P35749
SS
Gene name |
MYH11 (KIAA0866) |
Protein name |
Myosin-11 |
Names |
Myosin heavy chain 11 , Myosin heavy chain, smooth muscle isoform , SMMHC |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4629 |
EC number |
|
Protein Class |
|
Descriptions
Myosin-7 (MYH7, also named Myosin heavy chain, cardiac muscle β isoform) is an actin-based motor molecule with ATPase activity essential for muscle contraction. Several mutations in MYH7 are frequent causes of hypertrophic cardiomyopathy (HCM), a disease characterized by hypercontractility and eventual hypertrophy of the left ventricle. Many HCM-causing mutations appear to reduce myosin's ability to form an autoinhibited state. In an autoinhibited state, the myosin heads fold back onto their own subfragment 2 (S2) tail in a conformation known as the interacting heads motif (IHM). One of the two heads in the dimer has its actin-binding interface buried in the folded structure; this head is referred to as the blocked head, while the other is called the free head, since its actin-binding interface is not hidden structurally. Many myosin types have the folded back IHM structure. The IHM structure correlates to an ultra-low basal ATPase rate in the absence of an action called the 'super relaxed state'. Heads lacking the S2 tail mostly have a faster basal ATPase rate referred to as the 'disordered relaxed state'. Especially, mutations in the myosin lever arm or the pliant region of the lever arm can affect myosin function either by altering its intrinsic motor activity, and/or reducing its ability to form the autoinhibited state.
Autoinhibitory domains (AIDs)
Target domain |
79-784 (Myosin head, motor domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P35749
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P35749-F1 | Predicted | AlphaFoldDB |
2319 variants for P35749
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000613766 CA395199332 rs1555459260 |
1 | M>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001231218 RCV001836878 COSM262202 rs150600829 COSM262201 RCV002477766 RCV000774262 |
2 | A>V | Aortic aneurysm, familial thoracic 4 liver Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection large_intestine [ClinVar, Cosmic, NCI-TCGA] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2043958603 RCV001192290 |
8 | S>missing | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2043958315 RCV001190837 |
10 | D>Y | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA306622 RCV002515316 RCV000549599 RCV000182538 rs148562366 RCV001591235 RCV001189673 CA7923131 |
11 | E>D | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001969716 rs778352596 |
16 | V>A | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001584132 RCV001179119 RCV000474049 rs756777282 CA7923128 |
18 | K>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs148464745 RCV001183946 |
19 | N>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2043957002 RCV001179929 |
20 | F>C | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs777372840 RCV001057777 RCV001182335 |
21 | I>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000700231 RCV002360794 RCV002507219 rs752441599 |
24 | P>A | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP |
|
RCV001524464 rs2151381525 |
29 | D>A | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs765295579 RCV001886458 |
32 | A>P | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765295579 RCV001852318 RCV000182539 CA306625 RCV001185745 RCV002485204 |
32 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886038944 CA10587903 RCV002310861 |
33 | K>N | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2043954401 RCV001897235 RCV003229901 RCV002386652 |
33 | K>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001804661 rs199654191 |
34 | R>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7923119 RCV000802770 RCV001191557 RCV002480046 RCV000374025 rs199654191 |
34 | R>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000772664 CA278998951 COSM5097824 rs959014769 |
36 | V>I | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP |
|
rs761131497 RCV002559777 RCV001181172 |
39 | P>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001188968 RCV000498548 CA7923116 rs775927183 RCV001346448 RCV002475987 |
40 | S>L | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001524074 rs746419144 |
45 | F>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001523856 rs2151381454 |
48 | A>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001186178 rs2043951986 |
51 | K>E | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000774392 rs748791569 |
51 | K>M | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000772812 rs1567211756 RCV000795493 |
52 | E>G | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2151381441 RCV002015247 |
52 | E>K | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001280976 RCV003224466 rs1015353331 RCV000772796 |
54 | K>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2151381426 RCV001524391 |
56 | D>missing | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2043950817 RCV001183283 |
61 | E>Q | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001805470 rs2043950389 |
63 | V>A | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs886038997 CA10587901 RCV002310940 |
64 | E>Q | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002504606 rs777426396 RCV001367514 RCV001806151 RCV002051939 |
67 | K>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001188411 rs201872782 |
68 | K>E | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes dbSNP |
|
COSM3361645 RCV001181793 COSM3361646 rs111777997 |
68 | K>N | kidney Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; MODERATE impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD NCI-TCGA Cosmic |
|
RCV001183252 rs1222746393 |
70 | T>M | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001916068 rs2043948568 |
72 | G>R | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs147447269 RCV000182540 RCV000680562 CA306628 RCV001572709 RCV000233878 RCV000617853 RCV000244088 |
73 | K>Q | Connective tissue disorder Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000774190 rs1567211625 |
77 | Q>* | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001524024 rs2151381331 |
79 | M>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1431217461 RCV002313402 CA395198358 RCV003629129 |
82 | P>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs148687580 RCV001176690 |
85 | S>F | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001932865 rs1488968785 |
87 | V>L | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs775840903 RCV002541435 RCV001805509 |
89 | D>E | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2043945984 RCV001352499 |
89 | D>Y | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001374833 rs1187770545 |
90 | M>V | Isolated thoracic aortic aneurysm [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
COSM3506366 rs1555459204 RCV001524938 COSM3506367 RCV000641588 CA395198289 |
91 | A>V | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001185748 RCV003629104 CA306697 RCV000182567 rs794728681 |
94 | T>M | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs794728681 RCV001185334 |
94 | T>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001181184 RCV000182541 RCV001852319 CA306631 rs113363750 |
97 | N>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA277883 rs864309563 RCV001189910 RCV000202901 |
98 | E>D | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
COSM2127258 rs773587055 COSM2127257 RCV001187606 RCV001229443 RCV001560101 |
98 | E>K | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA306634 RCV000778045 COSM6002278 RCV002222428 RCV001116854 COSM181701 RCV000182542 rs375159635 |
101 | V>M | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001328953 RCV001526272 RCV001545121 rs1220795088 COSM290683 COSM290682 |
116 | T>M | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001805434 rs2151359917 |
117 | Y>F | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1596904322 RCV000787337 |
127 | P>S | Visceral myopathy 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001371954 RCV002480595 RCV001177526 RCV002284468 rs111247524 |
131 | L>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002352593 RCV001957179 rs2043468274 RCV002503624 |
133 | I>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs760445629 RCV003222337 RCV002471122 RCV001553754 |
135 | S>L | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
CA10587900 rs886039133 RCV002487158 RCV000694241 RCV002311148 |
138 | I>F | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001239694 RCV001177856 rs745609580 RCV002307690 |
139 | V>I | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM2127251 RCV000546818 RCV001182996 rs1085307699 RCV002489194 CA394882477 RCV000489819 COSM2127252 |
140 | D>N | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001186111 rs2043466892 |
141 | M>I | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001002055 rs755005682 |
145 | K>R | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001186753 rs2043466068 |
147 | R>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001524177 rs569925780 |
148 | H>Q | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV003528343 RCV001891337 rs750723134 |
151 | P>L | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
CA7923040 RCV001355711 RCV002282089 RCV003224244 RCV000247069 rs375998236 RCV000641579 |
158 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000695944 CA306637 rs794728671 RCV003528150 RCV000182543 |
160 | T>M | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1060500729 RCV001775804 CA16614885 RCV001805062 RCV000467496 |
163 | R>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002531833 RCV001181328 CA7923037 rs759409339 RCV002483732 RCV002264963 |
163 | R>W | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2151359714 RCV001894213 |
166 | L>F | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001876210 RCV001188995 rs539539812 |
169 | R>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs767290755 RCV001184436 |
169 | R>W | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA306640 RCV000818506 rs766315580 RCV000182544 |
170 | E>K | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001308752 RCV002486206 rs2042809404 |
177 | T>I | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002482149 RCV001072061 RCV001186482 rs1397436456 |
197 | V>M | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
CA394873636 rs763151112 RCV000544782 |
200 | S>A | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV003629159 rs763151112 RCV001179720 |
200 | S>P | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP |
|
rs773450359 RCV000697518 |
201 | S>A | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000788704 RCV002535788 RCV001182312 rs369194676 |
202 | H>P | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA306700 RCV003114332 COSM3722651 RCV000182568 RCV001185749 rs557865832 |
211 | T>M | upper_aerodigestive_tract Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1331223159 RCV001190781 |
220 | Q>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001180927 RCV002497633 rs1242871546 COSM5114552 |
229 | G>S | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000538025 CA394870786 rs1390176909 RCV001179627 |
237 | D>N | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2042283446 RCV001185281 |
246 | I>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA211693 RCV000206298 RCV000659901 RCV001092826 RCV000251088 RCV000157329 RCV000776119 RCV000148692 RCV000844919 RCV000182546 RCV003224171 rs150759461 |
247 | R>C | Connective tissue disorder Loeys-Dietz syndrome Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Altered myosin contractile function Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001187613 RCV002497654 RCV001862958 RCV001751336 rs772078130 |
252 | V>I | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001182863 RCV001876077 rs1596822713 |
253 | T>A | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA7922828 rs745787304 RCV000772092 RCV001119742 |
253 | T>M | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA306644 rs112992497 RCV000778046 COSM6023088 RCV000182547 RCV000231566 COSM6023087 |
257 | V>M | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2042216578 RCV001050643 |
270 | R>W | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM2127236 RCV002481737 COSM2127237 RCV000522785 CA394869584 rs1490228863 |
273 | R>C | Aortic aneurysm, familial thoracic 4 liver Variant assessed as Somatic; MODERATE impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1680622570 RCV003769866 RCV001175751 |
283 | I>L | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001176738 rs2042215219 |
284 | F>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001068471 rs1371371071 RCV001176324 |
287 | M>I | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs2042214133 RCV001177966 RCV003323803 |
296 | R>G | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2042105924 RCV001263012 |
300 | L>V | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2042105489 RCV001187816 |
305 | N>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000857860 rs185661462 RCV000659902 RCV000204065 RCV000182549 CA306650 RCV000770694 |
305 | N>S | Connective tissue disorder Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2151291395 RCV001524215 |
310 | L>F | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002477527 rs149964928 RCV001568762 RCV000686522 RCV000771504 |
312 | N>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC dbSNP gnomAD |
|
rs1567747453 RCV000773396 |
318 | P>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000182550 rs794728673 RCV001185746 CA306653 |
321 | Q>H | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2151291347 RCV001363554 |
321 | Q>R | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000688901 rs774646317 |
323 | D>N | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002515314 RCV000699161 RCV001721135 RCV001186510 CA306490 rs368938309 |
330 | V>M | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2042103218 RCV001190076 |
332 | A>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001183491 rs1425974785 |
334 | A>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001189783 rs1258616305 |
335 | I>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001176714 rs1393758073 |
337 | G>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000456357 CA16614599 rs1060500722 |
338 | F>C | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002010927 rs2151291266 |
339 | S>T | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001184593 rs145768331 |
340 | E>K | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs2042101661 RCV001179257 |
344 | L>I | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001187440 rs2041924270 |
346 | I>M | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs794728675 RCV000182552 RCV001118190 RCV001186486 CA306659 |
346 | I>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001258207 rs2041924034 |
348 | K>Q | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1414623292 RCV001177827 |
349 | V>M | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001189731 CA7922738 rs147496115 RCV000762213 RCV001868127 |
352 | S>L | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001186281 rs2041923210 RCV001118189 |
355 | Q>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
TOPMed gnomAD ClinVar dbSNP |
|
RCV002224123 rs1235801428 RCV002407177 RCV001994617 |
357 | G>missing | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003331046 RCV001118188 RCV001192108 RCV001266371 rs111677442 |
360 | V>I | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs770277568 RCV001524130 |
362 | K>E | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001361921 rs777252807 |
363 | K>N | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2041921713 RCV001188289 |
372 | M>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002497666 RCV001190813 rs1174407076 |
374 | D>G | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1344686228 RCV001189052 |
375 | N>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs943768534 RCV001185865 |
378 | A>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs943768534 RCV002443269 RCV002223367 |
378 | A>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2041847532 RCV001954052 |
380 | K>E | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001182110 rs2041847191 |
383 | H>Y | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003629179 RCV001190227 rs750691973 |
393 | T>I | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767021608 RCV000774532 RCV002255164 |
394 | R>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001184508 rs1179634554 RCV003629171 |
400 | R>C | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001181048 rs767036635 |
400 | R>H | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001208836 RCV001170345 CA306662 RCV000182553 RCV000455159 rs773998062 RCV002485206 |
401 | I>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748924540 RCV001181763 |
403 | V>F | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001054929 rs748165862 |
405 | R>Q | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000250073 RCV001179391 rs886038993 CA10587897 RCV002500947 |
407 | V>A | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2151278572 RCV001524649 |
408 | V>G | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2041845331 RCV001178058 |
408 | V>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001262552 rs2041844901 COSM1376105 |
414 | K>R | Aortic aneurysm, familial thoracic 4 large_intestine [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar dbSNP gnomAD |
|
rs777822332 RCV000770693 |
421 | V>G | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002483420 rs1555563221 CA394872620 RCV000560186 |
428 | T>A | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2041822203 RCV001328952 |
429 | Y>C | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000774132 rs1567736079 |
429 | Y>H | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs375276152 RCV001048923 RCV003528262 COSM4935165 RCV001759775 COSM4935164 |
434 | R>C | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV003528203 RCV000586233 RCV001208539 CA7922642 rs754636432 |
434 | R>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003130031 RCV000773488 rs1567736003 |
439 | R>C | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001183173 RCV003629165 rs372247345 |
439 | R>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10587898 RCV000457086 rs886038900 RCV000249195 RCV003528161 |
440 | V>M | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1159394998 RCV001526062 |
441 | N>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001868765 RCV001755688 rs2041820377 |
443 | A>V | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001525599 rs2151277173 |
448 | H>missing | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596793460 RCV000821561 |
448 | H>R | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001946303 rs775520228 |
449 | R>L | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001188726 RCV003514488 rs775520228 COSM3741788 |
449 | R>Q | Aortic aneurysm, familial thoracic 4 liver Familial thoracic aortic aneurysm and aortic dissection [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749264459 RCV002525955 RCV000483026 RCV002383934 CA7922633 |
452 | A>T | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1291260053 RCV001180987 |
452 | A>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001215960 rs780623648 |
468 | V>M | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs878854163 CA10583277 RCV000232835 |
476 | I>V | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2041773434 RCV001301267 |
488 | N>S | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2151274939 RCV001844530 |
491 | M>missing | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001285004 rs1236697376 |
491 | M>T | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2041772436 RCV001198628 |
498 | E>V | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA306665 RCV001001499 RCV000182554 RCV001180812 rs144244239 |
501 | R>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001185517 rs747217502 RCV001373986 |
505 | E>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1479218252 RCV001980529 |
509 | I>T | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001805246 rs1239094357 |
509 | I>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1443735566 RCV001182422 |
510 | D>A | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000182555 RCV002516858 COSM257468 rs112553563 RCV001186509 CA306668 |
510 | D>N | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1308058516 RCV001177439 |
518 | C>Y | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001183624 rs2041770602 |
520 | E>A | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM967469 COSM967470 RCV001904013 rs2151274848 |
520 | E>K | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
rs1555562770 RCV000624317 CA394870653 |
523 | E>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
TCGA novel RCV001805469 rs2151274829 |
524 | R>* | Variant assessed as Somatic; HIGH impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA Ensembl dbSNP |
|
CA10643094 RCV000358623 rs886051764 |
524 | R>Q | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM181684 RCV001812640 RCV003150135 COSM967468 RCV000230642 CA7922588 rs750288554 |
525 | P>L | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection central_nervous_system endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1421397442 RCV001182193 |
538 | E>G | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001525209 rs2151272970 |
543 | K>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001177941 rs2041718828 |
555 | T>M | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs758166424 CA7922547 RCV002313408 |
556 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1439991530 RCV001049655 |
557 | Q>* | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001069077 rs1415327075 RCV001805378 |
567 | K>N | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000822349 rs1596787649 |
567 | K>R | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001799484 rs2041716956 |
571 | D>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2151272860 RCV001901904 |
574 | E>Q | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000589107 RCV001079118 CA306440 RCV000243852 rs111936548 |
578 | I>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM967467 RCV000182494 RCV003150055 rs794728667 COSM967466 CA306498 |
588 | A>V | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs745516001 RCV001186487 RCV001721136 RCV000182495 RCV001049168 CA306501 |
590 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2151269020 RCV001526101 |
592 | L>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000773524 rs1338996385 |
596 | M>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001869556 RCV001805647 rs747024997 |
603 | V>M | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1567729751 RCV000699861 |
604 | T>I | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs758759408 RCV001177202 |
608 | N>D | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP |
|
RCV003330691 CA7922504 rs750642581 RCV001181129 RCV000460220 |
608 | N>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2151268922 RCV001950565 |
610 | S>A | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001038449 rs757513207 |
612 | D>E | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001190465 rs1267918882 RCV002560953 |
612 | D>N | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002406814 RCV000809016 RCV003442095 rs754374723 |
613 | K>N | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs140688587 RCV001188392 VAR_085875 |
616 | A>G | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD UniProt |
|
rs766985744 RCV001896638 |
617 | D>N | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000774275 rs751232816 RCV003768371 |
623 | D>G | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000808031 rs765885909 |
624 | R>C | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000225694 RCV000143925 RCV002055858 CA345838 rs201991156 |
624 | R>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001797705 RCV000404122 RCV000868555 RCV001572649 rs563865467 CA7922474 |
627 | G>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001189753 rs772309087 |
633 | K>Q | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001181820 RCV000700946 COSM5071071 RCV003238809 COSM259060 rs745878375 |
635 | T>M | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1312174913 RCV001177898 |
636 | E>D | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
COSM1376096 RCV000351501 RCV000659905 RCV000459130 RCV000766530 COSM1376095 RCV000238920 CA7922468 rs771128441 |
638 | S>L | Connective tissue disorder Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2041531591 RCV001187808 |
641 | S>N | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs530466304 RCV001966180 |
641 | S>R | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001187740 rs371750065 |
642 | A>P | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003132255 COSM5971655 COSM5971654 rs371750065 RCV001192265 |
642 | A>T | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002010572 rs1160451543 RCV002492311 |
651 | R>C | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001805240 rs2041530068 |
655 | Q>H | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001188124 CA394868981 rs1267658886 RCV003133331 RCV000525858 |
661 | L>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs762549707 CA7922458 RCV000536873 RCV003528191 |
664 | L>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2041529040 RCV002483971 RCV001178618 |
665 | M>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001190249 RCV001312487 RCV003409381 rs750066715 CA7922457 |
667 | T>M | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000505700 rs111404182 RCV000586477 RCV000776190 RCV000148694 CA211699 |
669 | R>C | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs749498320 RCV001179122 CA7922450 COSM115850 RCV000475365 |
672 | T>M | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000686542 rs1567726659 |
673 | P>A | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001190360 VAR_085645 rs1478913138 RCV001449892 |
677 | R>H | Familial thoracic aortic aneurysm and aortic dissection Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 MMIHS2 [ClinVar, UniProt] | Yes |
ClinVar dbSNP gnomAD UniProt |
|
rs886051763 RCV001094460 CA10637267 RCV000403845 |
681 | P>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM373583 RCV000474612 rs150924100 RCV003441866 CA16614671 |
683 | H>Q | lung Aortic aneurysm, familial thoracic 4 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs547459589 RCV000707537 |
684 | E>K | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003163127 RCV002227207 COSM5163672 RCV000688913 RCV001549535 rs760793367 RCV002493165 |
688 | G>S | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection Stroke disorder [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs775964675 RCV001525620 RCV003426171 |
690 | L>V | MYH11-related condition Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs148893135 RCV000769673 CA306504 RCV000182497 RCV001193457 RCV000525615 |
692 | A>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA348882 rs376758800 RCV000204679 |
700 | R>L | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000520837 rs376758800 CA7922390 RCV001187856 RCV000822494 RCV002497029 |
700 | R>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM967451 COSM967452 RCV002469090 RCV000641599 CA10587896 rs886038932 RCV001179386 RCV001547060 RCV000246855 |
700 | R>W | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs267606902 RCV002482869 RCV001557760 RCV000015196 CA257134 RCV000157330 |
712 | R>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001853949 RCV000581663 CA7922383 rs779897931 RCV002491158 RCV000772062 |
713 | Q>H | Ehlers-Danlos syndrome, classic type Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555560489 RCV000622613 CA394868050 |
714 | G>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809767 COSM3506334 COSM3506335 rs1596774009 RCV002424895 |
716 | P>H | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
RCV000769672 rs1286713310 RCV002223929 |
718 | R>Q | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002491866 RCV002430063 rs1275950124 RCV001258206 |
718 | R>W | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001805663 RCV002489858 RCV002541441 rs756408490 |
720 | V>I | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs373251357 RCV000774153 |
725 | R>C | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002224002 RCV001182361 COSM5706019 COSM5706018 rs1401359617 |
727 | R>C | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001188235 rs1460761362 RCV001220045 |
729 | E>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002028284 rs2151260511 |
731 | L>V | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003331070 RCV002484019 RCV001186589 rs764831521 |
732 | A>E | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001177945 rs764831521 |
732 | A>V | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002497646 RCV001186554 rs1393414333 |
733 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs776356937 RCV000554784 RCV001191183 RCV001552779 CA7922352 |
733 | A>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394867767 rs1555560379 RCV000528525 |
738 | K>R | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001525470 rs1555560379 |
738 | K>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003629168 RCV001183605 rs771806682 |
739 | G>A | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001360489 rs771806682 RCV003528291 |
739 | G>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555560373 RCV001796130 CA394867730 |
741 | M>T | Congenital aneurysm of ascending aorta [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7922347 RCV002429480 RCV003323544 rs778651094 RCV002281091 RCV000462297 |
746 | A>G | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2041457179 RCV001186548 RCV003514484 |
752 | K>E | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001183275 RCV003629166 rs147056835 |
758 | P>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003159202 RCV001339957 RCV002499672 rs140550319 |
759 | N>K | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001184168 rs2041456567 |
760 | L>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs935729628 RCV001177956 |
761 | Y>H | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001178183 CA278636624 rs912543441 RCV000585003 |
763 | I>M | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001776130 RCV001182988 rs944017240 |
763 | I>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001796026 RCV002523926 CA16042976 RCV002481276 rs1050298581 RCV001186935 RCV000413701 RCV000788983 |
766 | S>N | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Congenital aneurysm of ascending aorta [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs779331046 RCV001181821 RCV000702030 |
768 | I>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001258194 rs571704734 |
770 | F>L | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2151260076 RCV001895554 |
771 | R>* | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002531831 CA7922314 RCV002307561 rs147897132 RCV001180584 |
774 | V>I | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001182814 rs767136120 |
777 | H>N | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001187086 rs2041454597 |
780 | E>A | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000553732 CA394867315 rs1314103972 |
781 | E>V | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM5639195 RCV002568104 RCV001525708 COSM5639196 rs777173010 |
782 | R>* | Variant assessed as Somatic; HIGH impact. Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC dbSNP gnomAD |
|
rs200835799 RCV000865140 RCV001190645 |
782 | R>Q | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2041454061 RCV001177973 |
786 | I>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs768858261 RCV001183928 COSM1216138 RCV003514478 COSM1216137 |
788 | D>N | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001175945 rs2041453442 |
790 | I>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs780266654 RCV001204630 RCV001176985 |
791 | M>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001814678 rs2151259960 |
794 | Q>* | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001178513 rs2041453117 |
795 | A>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002298887 RCV001876140 RCV001184533 rs757602048 |
798 | R>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001317128 rs1567723860 |
800 | Y>D | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000703365 RCV001183566 rs1567723860 |
800 | Y>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs749801876 RCV001184880 RCV001876157 |
803 | R>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV003331175 rs534802983 RCV002568787 RCV003161053 RCV001524624 |
809 | R>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000777883 RCV001873171 rs761891932 |
812 | Q>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM2127172 COSM2127173 rs774279707 RCV001056237 RCV003528264 |
815 | A>T | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1243566183 RCV002536865 RCV000532854 CA394866877 RCV000780510 |
816 | M>L | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001804493 rs2151256712 |
821 | R>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs369196744 RCV000458059 RCV002223796 CA346461 RCV001181078 RCV000157331 |
832 | W>C | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1248564780 RCV001525694 |
839 | T>N | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs869025471 RCV001320281 RCV000208319 CA351937 |
849 | R>W | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10587893 rs886039165 RCV002311189 |
854 | M>I | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001176031 RCV002558803 rs2041283522 |
854 | M>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1567718928 RCV001805567 COSM5913777 COSM5913776 |
858 | E>K | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002479253 RCV001039550 RCV002427497 rs2041282747 |
859 | D>N | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002458396 rs373789068 RCV000780511 |
860 | E>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2041282396 RCV001180212 |
863 | K>E | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001978834 rs1337742341 |
865 | K>M | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001285384 rs773993037 RCV002281166 RCV001176852 |
867 | R>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000813659 COSM4058585 rs745429737 RCV002440775 COSM4058584 |
867 | R>W | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001181461 rs867202175 |
870 | K>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2151251130 RCV001799486 |
874 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2041280783 RCV001178318 |
878 | L>M | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs2151251073 RCV001804670 |
882 | H>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001085946 CA306510 rs35035518 RCV000252519 RCV001199892 RCV000182499 |
883 | S>L | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000804937 rs1596763433 |
885 | L>V | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001201301 RCV001178493 rs201387564 RCV000823188 RCV002495183 RCV003327468 |
887 | E>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000326425 RCV000916250 CA7922185 rs762308378 |
889 | K>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001179466 rs2041275775 |
890 | N>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001176204 rs866907050 |
900 | T>I | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs886051761 CA10647092 RCV000269150 |
901 | E>D | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001804504 rs1481169784 |
901 | E>G | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001811682 rs939496859 RCV001315848 RCV001176846 |
908 | E>D | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
TCGA novel RCV001804352 rs2041274181 |
910 | R>W | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP |
|
rs768392407 RCV001180903 |
912 | R>Q | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA306513 rs142128375 RCV002500538 RCV000370727 RCV001181530 RCV000182500 |
914 | A>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001185889 rs2041273210 |
916 | K>E | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1382626826 RCV003479223 RCV003372862 RCV000808272 |
916 | K>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs756452596 RCV000774511 |
925 | H>D | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs781711607 RCV001041613 |
927 | M>T | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002505568 RCV003323784 RCV001041017 RCV002436550 rs906679954 |
929 | A>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV003629157 rs755324860 RCV001178753 |
930 | R>C | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000641586 CA278627178 rs1025259076 RCV001176624 RCV002499077 |
930 | R>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002558971 rs1341541765 RCV001180782 RCV002223998 |
936 | D>V | Familial thoracic aortic aneurysm and aortic dissection Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000193616 CA277177 rs749497185 RCV001449891 |
937 | R>missing | Aortic aneurysm, familial thoracic 4 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001805627 rs2041270792 |
938 | G>A | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001365513 RCV000772945 RCV001563576 rs1227980651 |
938 | G>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001053270 rs2041270792 |
938 | G>V | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000484577 CA7922168 rs763514919 RCV000659907 RCV001524971 |
943 | A>D | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs878854164 RCV000231398 CA10583276 |
947 | K>N | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2041269564 RCV003629200 RCV001768305 |
950 | Q>E | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV002025134 rs2151250272 |
951 | Q>H | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2041269387 RCV001352456 |
951 | Q>L | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs372275868 RCV002298889 RCV001185189 |
952 | M>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003149003 rs758880935 RCV001943299 |
954 | D>V | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001805982 RCV001037764 RCV002479244 rs145121051 |
955 | L>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000820133 rs1596760890 |
959 | L>V | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002224263 RCV002496154 rs2151248171 RCV003089167 |
963 | E>G | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000234324 RCV000182501 RCV003323431 RCV001178103 rs113696032 CA306516 |
965 | A>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001524141 rs2151248150 |
968 | K>E | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002488610 RCV003163894 rs2151248140 RCV001755420 |
972 | E>Q | Aortic aneurysm, familial thoracic 4 Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2041231978 RCV001187870 |
973 | K>N | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002477473 RCV003424265 RCV000765255 rs763795192 COSM236797 RCV000659908 |
975 | T>M | Connective tissue disorder MYH11-related condition Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001181669 rs2041231212 |
980 | I>M | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs759420838 RCV001360566 |
984 | E>D | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1163072851 RCV001187062 COSM434699 COSM434698 |
984 | E>Q | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar dbSNP gnomAD |
|
RCV000641575 rs774274573 CA394864654 |
986 | E>D | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ExAC gnomAD ClinGen ClinVar dbSNP |
|
rs137988790 RCV001300255 |
987 | I>M | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs770004584 RCV001875959 RCV001179926 |
987 | I>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001185683 rs2041229911 |
990 | M>I | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1219173895 RCV001805985 RCV001039187 RCV003232187 |
994 | N>I | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
COSM5065412 rs2041228951 RCV001171284 |
997 | L>V | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP gnomAD |
|
rs2151247943 RCV001867802 |
998 | S>P | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001184325 COSM4704537 CA16620076 RCV000485034 rs1064795023 COSM4704538 |
1001 | R>* | Variant assessed as Somatic; HIGH impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV003528335 RCV001777053 COSM1708779 COSM1708778 rs376622843 |
1001 | R>Q | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection skin [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001550839 RCV002493074 RCV001861713 rs373358736 RCV000659909 RCV001184482 |
1004 | L>V | Connective tissue disorder Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1357435865 RCV002497368 RCV001040686 |
1007 | R>K | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1567715853 RCV000774087 |
1008 | I>F | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002541406 rs374785690 RCV001804479 |
1010 | D>E | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001178532 rs373881911 |
1012 | T>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000810431 rs373881911 RCV003313152 RCV001180085 |
1012 | T>M | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001799487 rs1347671761 |
1014 | N>D | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs2151245961 RCV001369268 |
1024 | N>S | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2041188958 RCV001178744 |
1029 | K>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001184112 rs2041188615 |
1033 | E>A | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001193456 RCV001876059 RCV001182525 rs557463209 |
1035 | M>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002325485 RCV003514414 RCV003128697 RCV000781627 rs1223757069 |
1039 | L>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV003514487 RCV001188555 rs2041159388 |
1041 | V>A | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA306519 rs771297865 RCV000182502 RCV002492809 RCV001188125 RCV000530492 |
1042 | R>Q | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001188142 RCV001192750 RCV000461579 rs774490005 CA7922075 |
1042 | R>W | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2041158967 RCV001171283 |
1044 | K>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002462044 RCV000700012 rs367605434 RCV001181818 |
1050 | R>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394863306 RCV001293464 RCV003235311 rs1555557294 RCV001187544 |
1051 | Q>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2041157922 RCV001187811 |
1056 | L>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001888974 RCV003407892 rs748577941 |
1058 | R>Q | MYH11-related condition Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2041157260 RCV001185151 |
1061 | E>D | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002251004 rs2151244209 |
1064 | A>T | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001753137 rs202136377 RCV003528332 |
1065 | S>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000769670 RCV000469986 rs757270167 RCV002481387 CA7922064 |
1066 | D>E | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2041156611 RCV001191272 |
1066 | D>G | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000864853 RCV000143926 rs200315340 CA345840 |
1066 | D>N | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001191695 rs2041155830 |
1070 | Q>* | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA7922060 RCV001188963 RCV000497365 RCV002527149 rs147848256 |
1070 | Q>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001042894 RCV003480918 rs759155353 RCV001174945 RCV001189027 |
1072 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2041155319 RCV001176423 |
1075 | Q>* | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001587327 RCV003166687 RCV001300597 rs1229749917 |
1076 | A>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001190899 RCV000641580 rs371205331 CA7922058 RCV002507093 RCV002263878 |
1076 | A>V | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002313723 rs193922629 RCV002496467 CA214156 RCV000030296 RCV000641574 RCV001753433 |
1078 | I>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001804988 rs140479999 RCV001570535 RCV002518736 CA10587890 |
1079 | A>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM967438 RCV001181381 RCV002289907 COSM967437 rs140479999 CA7922055 |
1079 | A>T | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555557191 CA658798552 RCV002314190 |
1082 | K>missing | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001370314 rs2151244102 |
1083 | M>I | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2151244086 RCV001525880 |
1086 | A>P | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001875796 RCV001176018 RCV002223992 rs375643160 |
1088 | K>E | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000560768 rs201443445 CA394862791 |
1091 | E>Q | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs945042608 RCV001051008 RCV001181365 RCV001776110 |
1092 | L>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001951108 rs2151244040 |
1093 | Q>* | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2041152851 RCV001182822 RCV002483995 RCV001751327 |
1094 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002492810 RCV000778040 RCV000701406 rs534384552 RCV000182503 CA306522 |
1094 | A>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10587891 rs886039079 RCV001181621 |
1096 | L>M | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7922022 RCV002531832 rs757497342 RCV001185560 |
1099 | L>F | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1640404 RCV001184289 rs764532365 RCV001225958 |
1101 | D>N | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection stomach [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001180633 rs761288871 |
1102 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000126939 rs34263860 CA292281 RCV003736596 VAR_050205 RCV000231857 RCV000243422 |
1104 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10643086 RCV000406052 rs886051759 |
1104 | A>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001188828 RCV002479174 RCV002550691 rs1451959711 RCV000996223 |
1108 | N>D | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1046453819 RCV002245590 RCV000690032 RCV001183069 |
1109 | A>D | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2151241070 RCV001900773 |
1113 | I>T | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000707606 COSM4990839 RCV001188197 COSM4990838 rs1349239463 |
1114 | R>Q | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000226763 RCV000182505 rs202004234 RCV002287384 RCV000778041 CA306528 |
1114 | R>W | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs746006297 RCV000689100 |
1118 | G>D | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000253117 RCV003528159 rs886038788 CA10587889 |
1120 | I>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2041091293 RCV001187953 |
1122 | D>H | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001374832 rs779019646 RCV002221584 RCV000774040 RCV001320092 |
1125 | E>D | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Isolated thoracic aortic aneurysm [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2041090817 RCV001039458 |
1126 | D>missing | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001171282 rs2041090629 |
1127 | L>P | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003302831 CA394861996 RCV000559707 RCV002497126 rs886038854 |
1127 | L>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1412932117 RCV000641581 CA394861974 |
1130 | E>G | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001177879 RCV003629153 RCV001374831 COSM1216122 rs778315061 |
1131 | R>W | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection large_intestine Isolated thoracic aortic aneurysm [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394861967 rs1409752157 RCV000641595 |
1132 | A>T | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000788829 RCV001805853 rs148731225 RCV001071655 |
1133 | A>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs148731225 RCV002307695 RCV001190928 RCV001876235 |
1133 | A>T | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs760057221 RCV001524929 |
1135 | N>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001371030 rs2151240909 |
1136 | K>M | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs761268562 RCV001344852 CA7922000 RCV001582897 RCV001183766 |
1137 | A>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001317692 rs761268562 |
1137 | A>T | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000194899 rs797045725 RCV001449890 CA277406 |
1141 | K>missing | Aortic aneurysm, familial thoracic 4 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1466172600 RCV001285362 |
1143 | D>E | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
CA394861888 rs1555556567 RCV000537706 |
1144 | L>I | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002541436 rs761657319 RCV001805558 |
1145 | G>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001183675 rs965028796 |
1146 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000773865 rs1567712736 |
1147 | E>D | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
Ensembl ClinVar dbSNP |
|
RCV001179121 rs1060500726 RCV000475016 CA16615018 |
1148 | L>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1433294302 RCV001592386 RCV003629192 |
1152 | K>R | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001525589 rs2151240818 |
1155 | L>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003330839 RCV001521979 RCV001189933 CA7921992 rs746943696 |
1157 | D>N | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001183394 rs2041086846 |
1162 | T>I | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003629203 RCV001805732 rs2151240746 |
1165 | Q>L | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2151236178 RCV001449893 |
1173 | E>D* | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001193407 RCV000182506 rs201391947 CA306531 RCV001226158 RCV000342815 |
1177 | T>M | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003528204 RCV002532708 rs1555555783 RCV000598586 CA658798550 |
1181 | K>A | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2041002895 RCV002334796 RCV001886398 |
1184 | D>E | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001525057 rs2151236097 |
1186 | E>G | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs552818350 RCV001171281 RCV000584422 CA16614583 RCV000463204 |
1187 | T>M | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection Bicuspid aortic valve [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000581573 CA306537 RCV000776321 RCV000547917 rs746615097 RCV000182508 |
1188 | R>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000182507 RCV001082357 RCV000777817 rs146388001 RCV000780509 CA306534 |
1188 | R>W | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000772571 rs773443243 |
1189 | S>Y | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001859122 RCV001187020 rs769951224 |
1190 | H>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ExAC gnomAD ClinVar dbSNP |
|
RCV002454593 rs371629304 RCV002224289 |
1190 | H>Y | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002027419 rs1251694902 |
1193 | Q>H | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001191697 RCV002480638 rs1057347498 |
1198 | R>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001449889 rs786205435 RCV000172830 CA302647 |
1200 | K>* | Visceral myopathy 1 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_085646 | 1200 | K>del | MMIHS2 [UniProt] | Yes | UniProt |
|
RCV001177075 CA7921952 RCV000283083 rs199800922 RCV001570759 |
1201 | H>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001704870 RCV002469048 RCV001190663 CA306447 rs112657320 RCV000466280 |
1202 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001219350 rs2041000390 |
1203 | Q>missing | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000182469 RCV000547704 RCV001184235 rs772621139 CA306450 |
1204 | A>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001184000 CA7921948 rs371831822 RCV000473967 RCV000246055 RCV002223200 |
1207 | E>K | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2040998700 RCV001221104 |
1210 | E>K | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001196926 rs2040998358 |
1211 | Q>* | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA16614881 rs1060500724 RCV000461173 |
1211 | Q>H | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2040997545 RCV001188480 |
1217 | R>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002451328 RCV001121523 rs111940956 RCV002491376 |
1223 | D>E | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1264829172 RCV001863012 RCV001190105 |
1223 | D>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
CA278609931 RCV000641594 rs1035637500 |
1225 | N>H | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001041525 rs2040800359 |
1226 | K>E | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs755810220 RCV001860399 RCV002307562 RCV001524888 CA7921919 |
1228 | T>M | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001179932 rs141948303 |
1230 | E>Q | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000541013 rs754761681 CA7921916 |
1232 | E>Q | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001775607 RCV001812080 RCV001775608 CA292284 RCV000126941 RCV000253396 RCV000359456 rs16967494 RCV000755575 VAR_030239 RCV000617806 |
1234 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Visceral myopathy 2 Lissencephaly, Recessive Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001191741 rs374027456 |
1235 | D>E | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV002492998 RCV003514485 RCV000641573 rs558332944 RCV001186947 RCV001176623 CA7921910 |
1238 | G>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD ClinGen |
|
rs558332944 RCV000774457 |
1238 | G>W | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1256787988 RCV001804296 |
1239 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs111318460 RCV001184140 |
1240 | L>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001185529 rs749705160 CA7921905 RCV001868126 |
1241 | R>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA257125 rs1555554098 RCV000015193 |
1241 | R>missing | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA7921906 RCV000773294 RCV000641590 RCV002483829 rs771515309 RCV001508775 |
1241 | R>W | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_031734 | 1241 | R>del | AAT4 [UniProt] | Yes | UniProt |
|
rs1399080640 RCV001345460 RCV002486404 |
1242 | V>I | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001185072 CA394860193 RCV002287425 rs1555554139 RCV000583280 |
1243 | L>P | Aortic aneurysm, familial thoracic 4 Pulmonic stenosis Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2040796253 RCV001186420 |
1245 | Q>H | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001314302 rs929368464 |
1249 | E>V | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001962156 rs2040795490 |
1251 | E>Q | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA394860130 rs1390595486 RCV001177630 RCV000555730 |
1252 | H>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16614582 RCV002348278 RCV000475802 rs1006269156 |
1252 | H>Y | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001804353 rs746842838 |
1253 | K>N | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1596738517 RCV001180742 RCV000823230 |
1255 | K>N | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000471114 CA7921897 rs149241435 RCV000253105 RCV000617155 RCV001582893 |
1256 | K>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003228908 CA346470 rs730880147 RCV000254668 RCV000157334 RCV002281969 RCV000466385 |
1256 | K>missing | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Congenital aneurysm of ascending aorta [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs387906532 RCV001938595 |
1257 | L>P | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001298068 RCV001180048 rs138623948 RCV001711764 CA7921894 |
1259 | A>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002026648 rs2151225352 |
1260 | Q>missing | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232949 rs1057518389 |
1261 | V>L | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA16042975 RCV001187659 rs1057518389 RCV000414197 RCV000821186 |
1261 | V>M | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs759729702 CA7921891 RCV002313404 RCV002225690 |
1263 | E>G | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA645511341 rs201831933 RCV000243616 CA270776 RCV000182510 RCV000144438 RCV000015194 |
1264 | L>P | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
RCV001178501 rs2040792879 |
1265 | Q>H | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002536677 RCV000774195 RCV003514411 rs200012419 RCV001775992 |
1269 | S>G | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001294772 RCV001185828 rs770319821 |
1270 | D>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002489506 COSM231341 rs770319821 RCV001179319 RCV001001209 RCV002223964 |
1270 | D>N | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001525924 rs142227497 |
1273 | R>G | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC dbSNP gnomAD |
|
COSM3969405 RCV003317441 COSM3969406 RCV002480598 RCV001177662 rs1473608237 |
1273 | R>Q | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000803349 RCV002489208 RCV000494070 CA7921882 RCV003159598 rs142227497 RCV001183001 |
1273 | R>W | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1060500723 RCV000464790 CA16614879 |
1274 | A>G | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001121522 rs1060500723 |
1274 | A>V | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA645511341 RCV000251625 rs267606901 RCV003629099 CA257130 RCV000015194 |
1275 | R>L | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs267606901 RCV001119523 |
1275 | R>Q | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1182738877 RCV001300470 RCV001176821 |
1275 | R>W | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs547038802 RCV000685975 |
1276 | A>G | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000641596 CA306543 RCV000182511 rs547038802 RCV000778042 |
1276 | A>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001178937 rs2040790247 |
1278 | L>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002360684 rs767533401 RCV000659913 |
1279 | N>S | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000475519 rs1060500730 CA16614666 |
1281 | K>I | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555554044 CA394859949 RCV002313400 |
1282 | V>A | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001524167 RCV002568057 rs1555554044 |
1282 | V>G | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs763285173 RCV003528183 RCV000522533 CA394859953 RCV002476068 |
1282 | V>I | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001884478 rs763285173 |
1282 | V>L | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs750794801 RCV001066277 |
1283 | H>N | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002314857 RCV002481591 RCV000498793 CA278609324 RCV002527148 rs1023178766 |
1285 | L>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000126945 RCV000617351 rs16967510 VAR_030240 RCV000274667 RCV001116427 RCV000242975 CA292291 RCV001812081 RCV000467652 |
1289 | V>A | Aortic aneurysm, familial thoracic 4 Lissencephaly 4 Familial thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1264354643 RCV003629164 RCV001181712 |
1289 | V>L | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001760144 rs140339691 RCV001240491 RCV001190799 COSM340084 |
1291 | S>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection lung [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs151058774 RCV000659916 RCV000773634 RCV000762211 RCV000701003 |
1292 | V>I | Connective tissue disorder Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7921846 rs151058774 RCV000641583 RCV003117448 RCV001176308 RCV001532984 |
1292 | V>L | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001524967 rs2151219964 |
1293 | T>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2040677902 RCV001189505 |
1295 | M>I | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000808702 rs1028035825 |
1298 | E>D | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002558799 RCV001175965 RCV002491495 rs780157741 |
1298 | E>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002527607 rs1388360113 RCV000520475 CA394859138 |
1299 | A>T | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs200737737 RCV001086354 RCV000243879 RCV000533441 CA7921840 |
1304 | I>L | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs7196804 RCV001176152 |
1310 | V>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001116425 VAR_030241 RCV000182512 rs7196804 RCV000398079 RCV000417389 RCV003224200 RCV000459113 RCV000757516 CA306546 RCV000680555 RCV000769666 |
1310 | V>M | Connective tissue disorder Aortic aneurysm, familial thoracic 4 Lissencephaly 4 Familial thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1608950 RCV000182513 RCV001184502 CA306549 RCV000822715 rs185720909 RCV003330542 |
1311 | A>V | Aortic aneurysm, familial thoracic 4 liver Familial thoracic aortic aneurysm and aortic dissection [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001191058 RCV002549929 rs1596732730 |
1312 | S>F | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001186575 RCV002559109 rs766001513 |
1312 | S>P | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000336390 RCV001812173 RCV001000699 RCV000241941 RCV001121349 RCV000182472 CA306455 rs141159831 |
1317 | L>I | Lissencephaly 4 Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2040673806 RCV003129726 RCV001183342 |
1320 | T>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000641635 RCV000182514 rs150033906 RCV001171279 CA306552 RCV001699146 |
1325 | Q>E | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001171278 rs2040665153 |
1328 | T>N | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002560908 RCV001187390 rs761662427 RCV001571469 |
1329 | R>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2040664317 RCV001341007 |
1334 | V>A | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA10587887 RCV002310944 RCV003629160 rs139377348 RCV001180193 RCV001298710 |
1334 | V>L | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs139377348 RCV001179413 RCV001823758 |
1334 | V>M | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002313398 COSM4704531 CA7921810 COSM4704532 rs771330136 |
1336 | T>M | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002555457 RCV001176397 rs778284314 RCV001576726 |
1337 | K>N | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000532371 rs754951425 CA7921807 |
1339 | R>C | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001121346 RCV000699160 rs374271463 RCV001192184 CA306555 RCV000182515 RCV000288562 |
1339 | R>H | Lissencephaly 4 Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394858572 rs754951425 RCV000772660 |
1339 | R>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs755408359 RCV001183146 |
1342 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000277819 rs886051746 RCV000333031 RCV001119329 CA10647084 |
1344 | E>V | Lissencephaly 4 Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000415683 RCV001193458 COSM2150528 RCV001184302 CA7921804 COSM2150527 rs150883363 |
1345 | R>Q | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection central_nervous_system [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001182588 rs371790612 |
1346 | N>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
RCV001365639 RCV003528293 rs2151219347 |
1347 | S>G | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001239868 rs753575083 RCV001576937 |
1353 | D>E | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs764136209 COSM3506305 COSM3506304 RCV000823507 RCV001186088 |
1354 | E>K | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV003236786 CA306458 RCV002321719 rs794728663 |
1356 | M>I | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001764732 RCV001248212 CA7921795 RCV001179343 rs141184241 RCV001193455 |
1357 | E>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003331178 rs763280025 RCV002324130 RCV001539412 RCV003629189 |
1358 | A>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748585013 RCV001176638 RCV000688640 |
1363 | E>D | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1398265916 RCV001524111 |
1363 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001590444 COSM1376080 COSM1376079 RCV003150449 rs769227102 RCV002579491 RCV002501961 |
1364 | R>C | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. pancreas Familial thoracic aortic aneurysm and aortic dissection large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs138730904 RCV002322319 RCV001361110 |
1365 | H>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
rs147127121 RCV001868813 RCV002506816 RCV001776862 |
1366 | I>F | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs147127121 RCV001349477 RCV000774188 |
1366 | I>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2040657857 RCV001309443 RCV002322215 |
1369 | L>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs957879903 RCV001186380 |
1372 | Q>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs1401689647 RCV001253078 |
1374 | S>F | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001245253 rs143467011 RCV000773560 |
1375 | D>N | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs553877450 RCV001182047 RCV000792024 RCV001592968 RCV002487638 |
1376 | S>L | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001186027 rs748742555 |
1379 | K>missing | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003528162 RCV000243370 CA7921751 rs753312858 |
1379 | K>Q | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001876053 rs775802674 RCV003331066 RCV001182105 |
1384 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2040640042 RCV001180762 |
1385 | S>I | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001046515 RCV002307663 RCV001183779 rs773946923 |
1387 | V>M | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001180763 rs2040639430 |
1387 | V>M | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2151218401 RCV001805426 |
1390 | L>P | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001182255 CA306676 rs143620567 RCV000860965 RCV001721137 |
1393 | G>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001180879 rs1468559687 RCV003629161 |
1395 | K>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs755794886 RCV001297581 RCV001179562 |
1396 | R>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1433018488 RCV001804653 |
1397 | F>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
TOPMed gnomAD ClinVar dbSNP |
|
rs754997732 RCV001179353 RCV001371300 RCV001527025 |
1400 | E>D | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001186199 rs760611400 |
1401 | I>M | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001804422 RCV001869509 rs765373729 |
1401 | I>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM4058575 COSM4058574 RCV001799489 rs764341540 |
1402 | E>K | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2151218283 RCV001525116 |
1407 | Q>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs760096354 RCV002331617 RCV002040497 |
1409 | E>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000819370 RCV001189311 rs200391659 |
1412 | A>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1025147024 RCV001526061 RCV001544990 RCV001324935 |
1413 | A>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001116325 RCV000182517 CA306561 RCV000780512 RCV001080924 rs112467954 RCV001171276 RCV000659918 |
1414 | A>T | Connective tissue disorder Aortic aneurysm, familial thoracic 4 Lissencephaly 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000254669 rs794728676 RCV003398909 RCV001178104 CA306671 RCV003765124 |
1414 | A>T | MYH11-related condition Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001863046 RCV001192060 rs2040634438 |
1414 | A>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003373055 RCV001224379 rs2040633481 |
1418 | L>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001524953 rs567729923 RCV000659919 |
1419 | E>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA394857230 RCV002313409 rs146817436 |
1421 | T>I | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs990642038 RCV003771593 RCV001524919 |
1423 | N>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001179440 rs2040631854 |
1428 | E>Q | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs753916027 RCV001176105 RCV001304159 |
1429 | L>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2040631048 TCGA novel RCV001180104 |
1431 | D>N | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA Ensembl dbSNP |
|
rs2040629877 RCV001175731 |
1435 | D>E | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs794728668 CA306564 RCV000182518 RCV002478616 RCV002517779 RCV000771911 |
1435 | D>N | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001183896 rs919816656 RCV000804234 |
1437 | D>G | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs566506678 RCV001191230 |
1439 | Q>E | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000480228 RCV002496878 CA7921713 RCV002525971 RCV001191587 rs763467593 |
1440 | R>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002328755 RCV000311485 CA7921714 rs766841864 |
1440 | R>W | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2040628585 RCV001180716 |
1441 | Q>missing | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001092820 RCV000146507 RCV000516410 RCV000805937 rs141262029 CA172638 RCV002312962 |
1443 | V>M | Lissencephaly 4 Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000421159 COSM1678850 RCV000771986 rs775809843 CA7921709 |
1449 | K>Q | lung Familial thoracic aortic aneurysm and aortic dissection [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000769665 rs1567699253 |
1452 | K>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs151112745 RCV001183127 |
1453 | F>C | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs151112745 RCV001062731 RCV002482065 |
1453 | F>S | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16043500 RCV000414859 rs1057518938 |
1454 | D>H | Myopia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001220318 RCV000244482 RCV003528163 rs775154820 CA7921674 |
1458 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1159818787 RCV001177519 |
1459 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001796028 CA7921669 RCV000556988 RCV002314119 rs749181134 |
1466 | K>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Congenital aneurysm of ascending aorta [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs8046180 RCV001210362 |
1467 | Y>* | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000769664 CA306571 rs370240337 RCV002516857 RCV002492811 RCV000182520 |
1468 | A>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs901607947 RCV003629180 RCV001190767 |
1469 | D>E | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001175997 rs2040487068 |
1471 | R>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002329164 RCV002526988 rs758663266 RCV000478696 RCV002496879 CA7921666 |
1473 | R>I | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000322936 RCV000361234 rs886051741 RCV001121240 CA10647073 |
1474 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs367746199 RCV002505760 RCV003425979 RCV002555494 RCV001574594 RCV001178733 |
1476 | A>G | MYH11-related condition Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC dbSNP gnomAD |
|
rs2040485781 RCV001189105 |
1477 | E>D | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002295294 RCV002311179 rs886039156 CA10587885 |
1478 | A>G | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM396932 RCV001365652 rs2151210905 |
1480 | E>D | lung Aortic aneurysm, familial thoracic 4 [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar Ensembl dbSNP |
|
rs864622710 CA349873 RCV000205760 |
1480 | E>Q | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1596721430 COSM6078320 RCV000806378 COSM556912 COSM6078319 |
1487 | S>C | lung Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
cosmic curated NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
RCV000523648 rs1555552158 RCV001853645 CA658658393 |
1487 | S>missing | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs755712100 RCV001180761 RCV002560806 |
1493 | E>D | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002261209 RCV000799073 RCV001190555 rs375969176 |
1494 | E>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375969176 RCV001186095 |
1494 | E>Q | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs907051668 RCV000469486 CA16614659 RCV002523290 |
1495 | A>V | Aortic aneurysm, familial thoracic 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001184679 rs568507502 |
1496 | L>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001524347 rs766093291 RCV003514505 |
1503 | E>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002558848 RCV001177360 rs769614526 |
1504 | R>Q | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001177648 rs144823441 COSM1216126 RCV002555475 RCV002559730 |
1504 | R>W | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection large_intestine Inborn genetic diseases [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2040481231 RCV001180413 |
1505 | T>I | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001185792 RCV000467014 CA16614581 rs1060500727 |
1506 | N>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1298388002 RCV001182120 |
1508 | M>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA292313 RCV000244209 RCV000126953 VAR_050206 RCV001812085 RCV000471823 rs35176378 RCV000769663 |
1508 | M>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001178155 RCV000926571 rs199713089 RCV002066045 |
1510 | K>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV003130535 rs2040479391 RCV001526255 |
1511 | A>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs771367057 RCV001186789 |
1512 | E>D | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001526147 rs1596721070 COSM4256370 RCV003771618 COSM4256369 |
1512 | E>K | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
rs794728669 RCV002515315 RCV000182521 CA306574 |
1513 | M>K | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001189253 rs2040478111 |
1514 | E>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs200909802 RCV002464155 RCV001178592 CA7921646 RCV002487148 RCV001201316 COSM1678848 RCV001060702 |
1515 | D>N | kidney Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774544947 RCV001189579 |
1527 | V>F | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748529935 RCV000680553 RCV002334240 RCV001224467 |
1533 | S>C | Connective tissue disorder Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001805278 rs1330157483 |
1534 | K>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000659922 RCV000227161 CA346463 RCV001311433 RCV000157332 rs137934837 RCV000417390 |
1535 | R>Q | Connective tissue disorder Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000414111 RCV003418092 CA7921608 RCV000776309 RCV000788492 RCV000556757 rs143402648 |
1535 | R>W | MYH11-related condition Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs373815046 RCV000823185 RCV002501143 RCV002336721 |
1536 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001751526 RCV001258193 rs1343964791 |
1538 | E>A | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001298716 rs1343964791 |
1538 | E>V | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001369601 rs758102556 RCV002476685 |
1543 | E>K | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001177087 COSM4985431 RCV001092819 RCV000791960 rs753685135 COSM4985432 |
1546 | T>M | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs374952057 RCV002224080 RCV001366889 |
1549 | E>V | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000983926 rs751716762 RCV003323772 RCV001805950 |
1550 | E>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001525018 RCV001872065 rs2151208733 |
1553 | D>N | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1555551958 RCV001068472 |
1554 | E>missing | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM967418 RCV001187745 RCV001068053 rs372598970 COSM967419 |
1554 | E>K | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555551958 CA658658392 RCV000550126 |
1554 | E>missing | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001094374 rs202231621 VAR_085647 RCV000310958 CA10643056 RCV000852382 |
1555 | L>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection VSCM2; uncertain significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD UniProt |
|
rs148275462 RCV002560139 RCV001192058 |
1556 | Q>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC dbSNP gnomAD |
|
RCV003225152 RCV001179714 rs2040439329 RCV002558919 |
1557 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000588245 CA346466 RCV001082621 rs111854563 RCV000157333 RCV001374830 |
1558 | T>M | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Isolated thoracic aortic aneurysm [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000403795 RCV000249445 CA7921585 RCV001844102 rs138863103 RCV002260632 COSM556914 RCV000468598 |
1561 | A>T | lung Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1019265305 RCV003514479 RCV001183931 |
1562 | K>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001177284 rs2040437613 |
1569 | M>I | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001775863 RCV000541780 CA7921583 rs145074004 RCV001180820 RCV002497127 |
1569 | M>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001178231 rs2040437510 |
1570 | Q>P | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs151101824 CA306577 RCV000182522 RCV001186508 RCV002478617 |
1573 | K>E | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7921581 RCV000706681 RCV001185564 RCV001190836 rs765435868 |
1576 | F>L | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs761965886 RCV001359634 RCV001187022 RCV002491555 |
1577 | E>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA306580 rs369751362 RCV000182523 RCV000778043 RCV001088950 |
1579 | D>N | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM967411 RCV000531179 COSM967410 CA7921576 RCV000996217 rs775908168 |
1583 | R>Q | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000765254 CA7921577 rs777170587 RCV001181545 RCV001508774 |
1583 | R>W | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001183866 rs773895582 |
1585 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs794728680 RCV000182561 CA306682 RCV002485207 RCV000641597 RCV000778047 |
1586 | Q>E | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001875934 rs1354578485 RCV001179349 |
1586 | Q>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001063777 rs376132003 |
1587 | N>K | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001526121 RCV001092818 rs747923542 |
1591 | R>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs754931029 RCV001188780 RCV001859133 |
1596 | R>G | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000284825 CA7921566 RCV000507867 RCV001795938 rs534983279 RCV000705273 RCV000337481 |
1597 | Q>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001175774 rs1328056044 |
1600 | E>D | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001175669 COSM5068896 rs761463510 |
1600 | E>K | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs376105806 RCV000324536 COSM4704521 RCV001177407 COSM4704522 CA7921533 |
1603 | T>M | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002000940 rs749424185 |
1607 | D>E | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001525813 rs771990666 |
1607 | D>N | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001759650 RCV001190583 rs777768672 RCV000868059 |
1608 | E>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000780508 rs1055960218 |
1609 | R>* | Variant assessed as Somatic; HIGH impact. Familial aortopathy [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001852317 CA306583 COSM1733481 RCV001181814 RCV000182524 rs190316422 |
1609 | R>Q | Aortic aneurysm, familial thoracic 4 pancreas Familial thoracic aortic aneurysm and aortic dissection [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs748356212 RCV002526963 CA7921527 RCV000478064 RCV001805103 RCV002475955 |
1612 | R>C | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM967406 COSM967407 RCV002493440 RCV001525948 rs781252922 RCV000788703 RCV000795576 |
1612 | R>H | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2040395983 RCV001177911 |
1617 | A>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001219737 RCV001185699 rs767053316 |
1617 | A>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000659924 CA214168 RCV002482921 rs34321232 RCV000554857 RCV000182562 RCV000611869 RCV000762209 |
1621 | K>Q | Connective tissue disorder Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003392541 RCV001176310 RCV001193454 rs755547393 RCV000704502 |
1621 | K>missing | MYH11-related condition Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001117662 rs2040394548 |
1625 | D>H | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001216907 rs2040394221 |
1627 | K>E | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001863027 rs571540776 RCV001190987 |
1630 | E>D | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000544206 CA394852437 rs1555551728 |
1630 | E>Q | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001524853 rs1364670858 |
1631 | L>F | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2040393468 RCV001170803 |
1632 | Q>H | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001756147 RCV000680552 RCV001861882 RCV002485570 RCV001191124 rs549820613 |
1634 | D>N | Connective tissue disorder Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs772007259 RCV001186761 |
1635 | S>C | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs376331652 RCV001856090 RCV000774540 |
1636 | A>P | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC dbSNP gnomAD |
|
RCV002223208 rs1060500728 RCV000463352 CA16614579 |
1638 | K>E | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001183859 rs2040391117 |
1642 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002009112 rs375607145 RCV002335021 RCV002261437 |
1645 | K>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs369409348 CA211697 RCV000689687 RCV002478413 COSM4058567 RCV000148693 RCV001804858 COSM4058566 |
1648 | R>C | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001189257 rs750912363 RCV003629178 |
1648 | R>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001525002 rs2151206068 |
1651 | Q>E | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000776361 RCV001116220 RCV003396347 rs756832190 |
1651 | Q>H | MYH11-related condition Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2151204765 RCV001804621 |
1659 | R>G | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs538137003 RCV000641591 CA394851786 |
1663 | D>V | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
rs1475779964 RCV001525921 |
1664 | A>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001176225 rs2040362704 |
1664 | A>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs768569707 RCV000523310 RCV000769659 RCV000475772 CA7921473 |
1665 | R>C | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs144813247 RCV001185434 RCV003629175 |
1665 | R>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000182525 RCV000559002 RCV002503709 CA306586 rs144813247 RCV001181815 |
1665 | R>L | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001902808 rs1345711998 |
1667 | S>C | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2040361619 RCV001214241 |
1670 | E>A | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2040361516 RCV001116217 RCV001116218 |
1670 | E>D | Lissencephaly 4 Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1567692384 RCV000696364 |
1676 | K>missing | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003448286 rs760908992 CA277873 RCV000757517 RCV000202728 RCV001184303 |
1684 | S>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs754570649 RCV001189309 RCV000818214 |
1685 | L>F | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001056072 rs1277876461 |
1690 | M>T | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000659925 rs1555551464 |
1693 | Q>R | Connective tissue disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001339254 rs538145374 RCV002240784 RCV001184507 |
1697 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001184353 rs2040340393 RCV003132253 |
1698 | A>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA278596958 RCV002483421 rs187172581 RCV000772099 RCV000537463 |
1698 | A>T | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1376073 COSM1376074 rs779639232 RCV002336453 RCV000182526 CA306589 |
1698 | A>V | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA7921422 RCV000780515 RCV002254933 RCV000557522 rs200410021 RCV001176125 |
1699 | A>T | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001179242 rs2040339703 |
1700 | E>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001768212 RCV003528333 rs777827294 |
1701 | R>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002034865 rs201108170 RCV002543441 RCV002334721 |
1703 | R>C | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs890856227 CA278596903 RCV000641600 |
1703 | R>H | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001220405 rs2040338321 RCV001526198 |
1705 | Q>P | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000774038 rs1567691518 |
1707 | D>G | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1353911032 RCV001181384 CA394850855 |
1708 | L>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001184428 rs769202751 RCV002480611 |
1709 | E>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001181792 RCV003129725 RCV001343107 rs566447086 |
1710 | K>E | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003528342 rs1344059916 RCV001895446 |
1714 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001184949 rs2040336060 |
1717 | L>P | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001121133 rs2040335841 |
1719 | S>R | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs571517980 RCV002559211 RCV001192306 |
1721 | L>M | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000471059 CA7921401 RCV002502614 rs756025504 RCV001177372 |
1722 | S>L | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3786629 CA7921370 RCV000762208 RCV001796029 RCV001188909 RCV000698929 rs376154041 |
1726 | A>T | Aortic aneurysm, familial thoracic 4 pancreas Familial thoracic aortic aneurysm and aortic dissection Congenital aneurysm of ascending aorta [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001184954 rs2040286402 |
1727 | L>F | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs145101141 RCV001525721 |
1729 | D>E | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002250131 rs766136761 |
1730 | E>* | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1310012347 RCV001181213 |
1732 | R>H | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
COSM5122964 RCV001061952 RCV003528265 rs1335030890 |
1733 | R>C | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP gnomAD |
|
rs2040284764 RCV002558940 RCV001180168 |
1734 | L>V | Familial thoracic aortic aneurysm and aortic dissection Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1388279286 RCV001178136 |
1735 | E>D | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002485765 RCV001798965 RCV000705803 rs148433586 |
1737 | R>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001189695 RCV001863002 rs772907739 |
1737 | R>W | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000185544 RCV003221841 RCV001804918 rs794729642 CA275505 |
1738 | I>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000658208 CA278596120 rs1029371842 RCV001178597 RCV000536102 |
1739 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001178899 rs2040283176 |
1740 | Q>H | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003323512 rs144421849 RCV000397601 RCV000769658 RCV001121130 RCV000460280 CA7921361 |
1742 | E>D | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs747864632 RCV000641592 RCV001176625 CA7921362 |
1742 | E>G | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002559696 rs769680879 RCV001176554 |
1742 | E>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001189447 RCV001859136 rs1224659472 |
1744 | E>missing | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748859355 RCV001936527 |
1748 | E>missing | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000774518 rs749462800 |
1750 | G>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs149245873 RCV001225782 |
1751 | N>I | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP |
|
RCV001189850 rs777832499 |
1752 | M>I | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs999924172 RCV001186372 |
1752 | M>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001351362 rs2040280173 |
1753 | E>Q | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1402732324 RCV001191609 |
1754 | A>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs756538881 RCV001191873 |
1755 | M>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
CA7921350 RCV001575927 RCV001182232 RCV000525433 rs146043349 |
1757 | D>E | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs752996609 RCV001185743 RCV000182527 CA306592 RCV000230350 |
1757 | D>N | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752996609 RCV001190822 |
1757 | D>Y | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA084166 RCV000148691 VAR_031735 CA272923 rs142546324 RCV000015192 RCV000611174 RCV001174812 RCV000182528 |
1758 | R>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection AAT4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002313407 rs138059405 CA394849871 |
1759 | V>F | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000656918 CA306464 RCV001553753 RCV000244427 RCV000239107 rs138059405 RCV000405397 |
1759 | V>I | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001900650 rs764794087 RCV002503450 |
1760 | R>C | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001180940 rs764794087 |
1760 | R>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000529067 rs142824472 CA278596019 |
1762 | A>T | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs2151201134 RCV001525696 |
1763 | T>A | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs761727438 RCV001191891 RCV003232222 RCV001863043 RCV002484055 |
1763 | T>I | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001910032 rs2151198532 |
1766 | A>T | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000774332 RCV003387927 rs377663370 |
1767 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000781630 RCV002536873 rs901502893 RCV003396359 RCV001188244 |
1768 | Q>E | MYH11-related condition Familial thoracic aortic aneurysm and aortic dissection Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000277615 rs201754049 CA7921301 RCV000699065 RCV002487401 |
1777 | R>H | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Lissencephaly, Recessive [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7921300 RCV000506086 RCV002489014 rs201960644 RCV001180578 RCV000461626 RCV001556383 |
1779 | T>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000143927 RCV000229023 CA345842 RCV000388279 rs201960644 |
1779 | T>M | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003224622 RCV002204533 rs201960644 |
1779 | T>R | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001185276 CA278595139 rs1041344233 RCV001242216 RCV002491328 |
1780 | A>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001524614 rs2151198418 RCV002290714 |
1782 | K>missing | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001176662 rs112201211 |
1783 | N>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs772663756 RCV000774447 RCV000864791 |
1785 | S>C | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746310860 RCV000685233 |
1785 | S>T | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs779452783 RCV001184807 RCV001231149 |
1786 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1567687948 RCV001206667 RCV001183794 |
1786 | A>V | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs759000207 RCV001184259 CA10587886 |
1787 | R>Q | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000805160 rs1596704972 |
1787 | R>missing | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596704952 RCV000793472 |
1789 | Q>E | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs368269107 RCV001753691 CA7921289 RCV000230804 RCV001184025 |
1791 | E>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003629162 rs368269107 RCV002223277 RCV001181361 |
1791 | E>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs751495086 RCV002487010 RCV002224185 |
1792 | R>P | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001186484 RCV000182529 CA306595 RCV001308821 rs751495086 |
1792 | R>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002560060 rs1364355866 RCV001189756 RCV002560061 |
1792 | R>W | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001180372 RCV000182563 rs148938946 RCV003323432 RCV001087366 RCV000249743 CA306685 |
1798 | R>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs371581038 RCV002509598 RCV003233940 RCV001048937 RCV001176831 |
1798 | R>W | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000470016 CA7921284 RCV003326433 rs776016983 |
1799 | S>N | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001189405 RCV000475948 CA16614577 rs776016983 |
1799 | S>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001875939 rs1485890422 RCV001179503 |
1802 | H>Y | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2040205677 RCV001186138 |
1802 | H>missing | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000259812 RCV000641576 RCV003323510 rs746211825 RCV000357063 CA7921283 RCV002269268 |
1802 | H>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001804519 rs1314387438 |
1803 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001186505 rs748806263 |
1804 | M>I | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs1384372336 RCV001525338 |
1806 | G>R | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000182564 RCV001185747 RCV000685931 RCV003330543 CA306688 rs780870767 |
1808 | V>I | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10647931 RCV000361465 RCV001117539 rs886051738 |
1809 | K>N | Aortic aneurysm, familial thoracic 4 Lissencephaly, Recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596704556 RCV001000750 |
1810 | S>Y | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000203002 CA277891 rs864309564 |
1812 | F>missing | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001524881 rs1567687613 |
1813 | K>missing | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001177358 RCV001219857 RCV000756381 rs759033733 RCV002485955 |
1814 | S>F | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001524037 RCV001821848 RCV002568053 rs764219360 |
1815 | T>A | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001427315 CA306598 RCV000182530 RCV000778044 RCV000680551 rs142654744 |
1817 | A>V | Connective tissue disorder Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs771343446 RCV003629135 RCV000773349 |
1818 | A>V | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001063447 rs2040199092 |
1821 | A>missing | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001179601 RCV002558914 rs769337030 |
1823 | I>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000770692 RCV000659927 RCV001696829 RCV000861530 rs147710374 CA7921262 RCV003235265 |
1824 | A>T | Connective tissue disorder Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1895647620 RCV001184271 |
1827 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001525870 RCV000680550 rs1365841164 |
1828 | E>V | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA16620074 RCV002350080 RCV000478759 RCV001346748 RCV001375555 rs1005977032 |
1829 | Q>E | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1005977032 RCV001188658 RCV001116104 |
1829 | Q>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001184808 rs2040197454 |
1830 | V>missing | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
rs185904370 RCV001776129 RCV001375554 RCV001179968 |
1830 | V>I | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002555462 RCV003442221 rs750433973 RCV001176739 |
1831 | E>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001181404 RCV003163419 rs750433973 |
1831 | E>Q | Familial thoracic aortic aneurysm and aortic dissection Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs553162576 RCV003629150 RCV001175730 RCV002491494 |
1832 | Q>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000770691 rs145252402 RCV000182531 RCV002287385 RCV001085729 CA306601 RCV003352798 RCV000589962 |
1833 | E>D | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1567687398 RCV000701803 |
1833 | E>K | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002558829 rs759734157 RCV001176729 |
1834 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000390537 RCV000724061 CA245003 RCV000659928 rs112948385 RCV000456952 RCV000252424 RCV003407656 |
1839 | A>V | Connective tissue disorder MYH11-related condition Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001027836 RCV003224199 rs148621523 RCV001116103 RCV001704871 RCV003398908 CA306470 RCV001185497 |
1843 | S>L | MYH11-related condition Aortic aneurysm, familial thoracic 4 Lissencephaly 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148621523 RCV001328954 RCV001190067 |
1843 | S>W | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002047376 rs2040060420 |
1849 | K>R | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs2040060024 RCV001183371 |
1851 | L>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001191209 rs1436778681 |
1858 | V>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV003514324 RCV000182533 CA306607 rs139418145 RCV001185744 |
1861 | E>K | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001191151 rs757542362 RCV002497669 RCV002559185 |
1862 | R>C | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000280640 rs146228576 CA306610 RCV000182534 RCV001374829 RCV001085094 RCV000776147 |
1862 | R>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive Isolated thoracic aortic aneurysm [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000777865 CA7921213 COSM3794605 COSM3794606 RCV001753734 RCV000553332 rs148743922 RCV000247569 |
1866 | E>K | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection urinary_tract [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2151192622 RCV001914128 |
1867 | Q>* | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1355377006 RCV002536667 RCV000773980 |
1872 | A>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001183143 rs943486107 |
1872 | A>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001885371 rs762821036 RCV001824517 |
1873 | E>D | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001175954 rs2040046772 |
1873 | E>Q | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001314929 RCV002504482 rs769802444 |
1876 | N>K | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002348372 RCV001045607 rs373369803 |
1876 | N>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001184270 rs2040045274 |
1878 | R>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000777832 RCV000478153 rs138206921 RCV003235238 RCV000659929 RCV001089216 CA7921178 |
1879 | V>I | Connective tissue disorder Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs745941067 RCV001895578 |
1881 | Q>K | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2040044275 RCV001189014 |
1882 | L>F | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000814301 RCV000182535 COSM1629784 CA306613 rs369950711 RCV000771912 |
1889 | A>V | Aortic aneurysm, familial thoracic 4 liver Familial thoracic aortic aneurysm and aortic dissection [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000126968 rs113964173 CA292332 RCV000475215 RCV001311430 RCV000776051 |
1892 | E>D | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1323711 RCV003528284 COSM1323712 RCV001374828 rs992494235 |
1895 | R>C | ovary Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection Isolated thoracic aortic aneurysm [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
CA7921165 RCV002491327 RCV001179345 rs375148396 |
1895 | R>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs992494235 RCV001179762 |
1895 | R>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001337726 RCV001181497 COSM1563235 COSM1563236 rs1363749589 |
1898 | A>T | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000771372 RCV001844167 CA7921160 RCV000755579 RCV001081156 rs79129097 |
1899 | N>S | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001525973 rs2151192042 |
1901 | R>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001523853 rs2151192036 |
1904 | Q>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001240359 RCV002484046 RCV001191153 rs1443593366 |
1905 | R>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs749422717 RCV000774519 RCV003117563 RCV002223932 |
1905 | R>W | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1176411300 RCV000659930 |
1908 | D>N | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001970582 rs770320526 |
1910 | A>T | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003372642 CA306616 rs748516947 RCV000182536 |
1911 | T>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748516947 CA7921155 RCV001374827 RCV001555668 RCV000415719 RCV000772071 |
1911 | T>M | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Isolated thoracic aortic aneurysm [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001054167 rs748516947 RCV001290570 |
1911 | T>R | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1030614126 RCV001891959 |
1912 | E>K | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001183828 rs760586766 RCV002559051 RCV001876118 |
1913 | S>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1284202501 RCV001875997 RCV001180707 |
1919 | R>H | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV003514482 RCV002462348 RCV001185377 rs757099566 COSM5384278 COSM5384277 |
1920 | E>K | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000360574 CA10643049 RCV000268264 RCV001119049 rs886051737 |
1921 | V>M | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA306619 RCV000796819 rs571504063 RCV001186485 RCV000756379 RCV002485203 |
1923 | A>T | Aortic aneurysm, familial thoracic 4 Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10647069 RCV000309241 RCV000366285 RCV001119048 rs886051736 |
1925 | K>R | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2151191803 RCV001989691 |
1926 | S>N | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002501957 rs764285909 RCV002359199 RCV001592030 |
1929 | R>L | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000599500 CA7921069 rs772670393 RCV002498875 |
1930 | R>* | Aortic aneurysm, familial thoracic 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs769356338 RCV002291730 RCV001192145 |
1930 | R>Q | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP |
|
RCV000253974 RCV000211551 RCV000680547 CA306482 RCV002516856 RCV000625176 rs113667224 RCV001092816 |
1934 | T>S | Connective tissue disorder Aortic aneurysm, familial thoracic 4 Aortic aneurysm, familial thoracic 6 Familial thoracic aortic aneurysm and aortic dissection Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2039323650 RCV001185634 |
1942 | S>F | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002280162 COSM4058555 RCV001178658 rs751862398 |
1945 | R>C | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003224449 RCV000768272 rs764843752 RCV001189778 COSM434691 |
1948 | I>T | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection breast [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001179243 rs769211342 |
1951 | A>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
COSM1629783 RCV001190978 rs2039321637 |
1955 | E>K | liver Familial thoracic aortic aneurysm and aortic dissection [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV001184147 rs2039321532 |
1955 | E>V | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003224501 RCV000996215 RCV001027837 RCV001174783 rs768140376 RCV001181543 |
1957 | E>Q | Aortic aneurysm, familial thoracic 4 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001186511 CA306484 RCV000182486 rs149701021 |
1958 | T>M | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003490097 RCV001176001 rs772155686 |
1961 | R>* | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001189159 RCV000486651 CA7921043 rs146413415 |
1963 | A>T | Variant assessed as Somatic; MODERATE impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA394843490 rs1317809527 RCV001176897 RCV000656148 |
1966 | N>S | Familial thoracic aortic aneurysm and aortic dissection Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs914328780 RCV001182424 |
1971 | S>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
| rs1363516524 | 3 | Q>K | No | TOPMed | |
| rs2043958746 | 5 | G>D | No | Ensembl | |
| rs1461846939 | 7 | L>V | No | gnomAD | |
| rs1301566011 | 9 | D>N | No | gnomAD | |
| rs2151381612 | 10 | D>G | No | Ensembl | |
| rs2043958315 | 10 | D>H | No |
TOPMed gnomAD |
|
| rs2043958315 | 10 | D>N | No |
TOPMed gnomAD |
|
| rs200925534 | 11 | E>K | No | gnomAD | |
| rs2043957775 | 12 | K>E | No | Ensembl | |
| rs2043957693 | 12 | K>N | No | Ensembl | |
| rs745386427 | 14 | L>P | No |
ExAC gnomAD |
|
| rs2043957542 | 15 | F>S | No | Ensembl | |
| rs2151381579 | 17 | D>H | No | Ensembl | |
| TCGA novel | 18 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001768026 rs1257655501 |
21 | I>missing | No |
ClinVar dbSNP |
|
| rs755935176 | 21 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1233739451 | 22 | N>H | No | TOPMed | |
| rs1321407433 | 22 | N>S | No | TOPMed | |
| rs1203094266 | 25 | V>A | No |
TOPMed gnomAD |
|
| rs767457782 | 26 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs767457782 | 26 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2043955262 | 29 | D>E | No | TOPMed | |
|
COSM3506373 rs998492066 COSM3506372 |
29 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs1204156266 | 30 | W>C | No | gnomAD | |
| rs2043954639 | 32 | A>G | No | Ensembl | |
| rs1226021715 | 38 | V>I | No | gnomAD | |
| rs761131497 | 39 | P>A | No |
ExAC TOPMed gnomAD |
|
|
COSM3887974 COSM3887973 |
39 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761131497 | 39 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1303933614 | 42 | K>Q | No | gnomAD | |
| rs866047937 | 46 | E>K | No | gnomAD | |
|
rs866047937 COSM3817296 COSM3817295 |
46 | E>Q | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs2043952484 | 47 | A>E | No | Ensembl | |
| rs2043952602 | 47 | A>S | No | TOPMed | |
| rs1471463253 | 49 | S>N | No | gnomAD | |
| rs2043952063 | 50 | I>V | No | Ensembl | |
|
COSM967490 rs138407222 COSM967489 |
54 | K>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA |
| TCGA novel | 55 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2043951177 | 57 | E>K | No | Ensembl | |
| rs2043950934 | 60 | V>M | No | TOPMed | |
| rs2043950389 | 63 | V>E | No | Ensembl | |
| rs1487939259 | 63 | V>M | No | gnomAD | |
| rs1263242137 | 64 | E>D | No | gnomAD | |
| rs1567211695 | 68 | K>T | No | Ensembl | |
| rs538460777 | 69 | V>A | No |
1000Genomes ExAC gnomAD |
|
| rs371215641 | 69 | V>I | No |
ESP ExAC gnomAD |
|
| rs371215641 | 69 | V>L | No |
ESP ExAC gnomAD |
|
| rs1284290610 | 71 | V>A | No |
TOPMed gnomAD |
|
|
COSM3506371 COSM3506370 |
71 | V>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs757303383 | 73 | K>N | No |
ExAC gnomAD |
|
| rs2043948148 | 73 | K>T | No | Ensembl | |
| rs1454312109 | 74 | D>G | No |
TOPMed gnomAD |
|
|
rs2151381334 RCV001703082 |
78 | K>E | No |
ClinVar Ensembl dbSNP |
|
| rs368641001 | 79 | M>K | No |
ESP ExAC gnomAD |
|
| rs764413626 | 81 | P>S | No |
ExAC gnomAD |
|
| rs2043946927 | 82 | P>H | No | Ensembl | |
| rs1431217461 | 82 | P>S | No |
TOPMed gnomAD |
|
| rs148687580 | 85 | S>Y | No | Ensembl | |
| rs185409096 | 86 | K>R | No |
1000Genomes ExAC gnomAD |
|
| rs1488968785 | 87 | V>M | No |
TOPMed gnomAD |
|
| rs1432299511 | 88 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 90 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1257012799 | 97 | N>S | No | gnomAD | |
|
COSM967488 COSM967487 |
98 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1245092974 | 99 | A>P | No | gnomAD | |
| COSM5114553 | 105 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151381248 | 105 | L>V | No | Ensembl | |
| rs747859212 | 106 | R>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 108 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2043943581 | 108 | R>W | No | Ensembl | |
| TCGA novel | 109 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567211480 | 114 | I>T | No | Ensembl | |
| rs1465301521 | 115 | Y>C | No | gnomAD | |
|
COSM262200 rs781275376 COSM262199 |
116 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs766831176 | 120 | L>V | No |
ExAC gnomAD |
|
| rs372775942 | 122 | C>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs750974235 | 123 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1181732289 | 125 | V>F | No |
TOPMed gnomAD |
|
| rs1247447254 | 127 | P>L | No |
TOPMed gnomAD |
|
|
COSM6078307 COSM6078308 |
128 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776152745 | 132 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA |
| rs2043468274 | 133 | I>L | No | Ensembl | |
| rs2043467995 | 136 | E>G | No | Ensembl | |
| TCGA novel | 136 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1425599394 | 137 | K>N | No | gnomAD | |
| rs1162127083 | 138 | I>M | No |
TOPMed gnomAD |
|
| rs1299642364 | 141 | M>T | No |
TOPMed gnomAD |
|
| rs770925258 | 142 | Y>S | No |
ExAC gnomAD |
|
| rs1225067070 | 143 | K>E | No | gnomAD | |
| rs200672270 | 143 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs2043466650 | 143 | K>R | No | TOPMed | |
| rs1289315807 | 144 | G>C | No | gnomAD | |
| rs2043466367 | 144 | G>V | No | TOPMed | |
| rs1208077854 | 145 | K>Q | No | gnomAD | |
| rs758779600 | 149 | E>K | No |
ExAC gnomAD |
|
| rs866866093 | 151 | P>S | No | Ensembl | |
| rs748483924 | 156 | A>S | No | Ensembl | |
|
rs748483924 COSM1708786 COSM1708785 |
156 | A>T | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2151359760 | 156 | A>V | No | Ensembl | |
| rs2043465085 | 157 | I>V | No |
TOPMed gnomAD |
|
| rs1387814670 | 159 | D>G | No | gnomAD | |
| rs767239289 | 162 | Y>* | No |
ExAC gnomAD |
|
| rs1293512437 | 164 | S>N | No |
TOPMed gnomAD |
|
| rs1017904847 | 167 | Q>E | No | TOPMed | |
| rs1225487568 | 168 | D>N | No | gnomAD | |
| rs2042809994 | 173 | S>T | No | TOPMed | |
| rs773220585 | 174 | I>V | No |
ExAC gnomAD |
|
| rs772137880 | 176 | C>F | No | ExAC | |
| rs1290485955 | 180 | S>T | No | TOPMed | |
| TCGA novel | 183 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM181692 rs1336808013 COSM1708784 |
186 | E>K | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
TCGA novel rs1009725726 |
189 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs868700157 | 193 | Q>* | No | Ensembl | |
|
COSM390506 rs2042477190 |
196 | A>V | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs369194676 | 202 | H>R | No |
TOPMed gnomAD |
|
| rs1369989221 | 203 | K>R | No | gnomAD | |
|
COSM4058601 COSM4058600 |
205 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1457434264 | 205 | K>R | No | gnomAD | |
| rs748471978 | 207 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1204903959 | 208 | T>I | No |
TOPMed gnomAD |
|
|
COSM3988259 COSM3988258 |
208 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1412401282 | 208 | T>P | No | TOPMed | |
| rs1204903959 | 208 | T>R | No |
TOPMed gnomAD |
|
| rs557865832 | 211 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM6143390 COSM6143389 |
223 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2042378923 | 227 | A>D | No |
TOPMed gnomAD |
|
| rs1457010223 | 227 | A>T | No | gnomAD | |
| rs2042378858 | 228 | F>S | No | TOPMed | |
| rs2042376401 | 231 | A>S | No | TOPMed | |
| rs781095954 | 232 | K>R | No |
ExAC gnomAD |
|
|
COSM701859 COSM701858 |
240 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs112895882 | 241 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1249771233 | 241 | R>Q | No | gnomAD | |
| rs1308503801 | 244 | K>R | No |
TOPMed gnomAD |
|
| rs768521822 | 247 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs768521822 | 247 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1596822765 | 248 | I>T | No | Ensembl | |
| rs2042283026 | 249 | N>S | No | TOPMed | |
| rs775577319 | 251 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs960296942 | 251 | D>N | No | gnomAD | |
| rs1355086136 | 254 | G>A | No | gnomAD | |
| rs1172101058 | 259 | A>S | No | TOPMed | |
| rs1172101058 | 259 | A>T | No | TOPMed | |
| rs1371318461 | 260 | N>S | No | gnomAD | |
| rs1409319293 | 261 | I>T | No |
TOPMed gnomAD |
|
| rs781220570 | 261 | I>V | No |
ExAC gnomAD |
|
|
rs1445935980 COSM967480 COSM967479 |
263 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
COSM967481 COSM967482 |
263 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2042281383 | 263 | T>S | No | TOPMed | |
| rs1428672061 | 264 | Y>H | No |
TOPMed gnomAD |
|
| TCGA novel | 265 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3506360 COSM3506361 |
269 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3887968 COSM3887967 |
270 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1473369908 | 270 | R>Q | No | gnomAD | |
|
rs886038851 CA10587899 RCV000249833 |
271 | A>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs1429935046 | 272 | I>V | No |
TOPMed gnomAD |
|
|
COSM967477 COSM967478 rs768807804 |
273 | R>H | Variant assessed as Somatic; MODERATE impact. pancreas endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs1479399329 | 275 | A>D | No | gnomAD | |
| rs747215448 | 277 | D>H | No |
ExAC gnomAD |
|
| rs747215448 | 277 | D>N | No |
ExAC gnomAD |
|
| rs2151296120 | 279 | R>K | No | Ensembl | |
|
rs1271678028 COSM1376109 |
280 | T>A | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1300115162 | 281 | F>L | No | TOPMed | |
| rs2042215431 | 282 | H>L | No | TOPMed | |
| rs2151296092 | 287 | M>L | No | Ensembl | |
| rs753233348 | 289 | A>V | No |
ExAC gnomAD |
|
| rs2042214914 | 290 | G>A | No | Ensembl | |
|
CA306647 RCV000182548 rs794728672 |
290 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2042214842 | 291 | A>S | No |
TOPMed gnomAD |
|
| rs763647598 | 293 | E>K | No |
ExAC gnomAD |
|
| rs866770231 | 295 | M>I | No | Ensembl | |
| rs898183293 | 295 | M>L | No | TOPMed | |
| TCGA novel | 296 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM701861 COSM701860 |
297 | S>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs752421610 | 298 | D>E | No |
ExAC gnomAD |
|
| rs2042105852 | 301 | L>S | No | Ensembl | |
| rs1830341892 | 302 | E>K | No | Ensembl | |
| rs2042105793 | 303 | G>D | No |
TOPMed gnomAD |
|
| rs374262038 | 305 | N>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs368906359 | 307 | Y>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151291404 | 308 | T>A | No | Ensembl | |
| rs766183134 | 308 | T>I | No |
ExAC gnomAD |
|
| rs2042105230 | 309 | F>C | No | gnomAD | |
| rs866269205 | 311 | S>F | No | Ensembl | |
|
RCV000523030 CA394867991 rs1555565510 |
312 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs193014833 | 314 | F>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 315 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2042104736 | 315 | V>L | No | gnomAD | |
| rs2042104736 | 315 | V>M | No | gnomAD | |
| rs760694528 | 316 | P>R | No |
ExAC gnomAD |
|
| rs867101088 | 316 | P>S | No | Ensembl | |
| rs775696743 | 317 | I>F | No |
ExAC gnomAD |
|
|
rs372237923 COSM341727 |
318 | P>S | lung [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs372237923 | 318 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2042104009 | 322 | D>G | No | Ensembl | |
| rs771296624 | 326 | F>S | No |
ExAC gnomAD |
|
| rs1313167543 | 328 | E>K | No | gnomAD | |
| rs1555565497 | 329 | T>I | No | Ensembl | |
| rs747592989 | 330 | V>A | No |
ExAC gnomAD |
|
| rs368938309 | 330 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs866388665 | 331 | E>K | No | Ensembl | |
|
COSM4950274 COSM4950273 |
332 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751216435 | 333 | M>I | No |
ExAC gnomAD |
|
| rs754644880 | 333 | M>L | No |
ExAC gnomAD |
|
| rs794728674 | 334 | A>E | No | Ensembl | |
| rs1425973761 | 336 | M>I | No | gnomAD | |
| rs1187583967 | 336 | M>T | No | gnomAD | |
| rs2042102682 | 337 | G>A | No | TOPMed | |
| rs766124723 | 338 | F>L | No |
ExAC gnomAD |
|
| rs758186778 | 339 | S>G | No |
ExAC gnomAD |
|
|
COSM1518081 rs112161189 COSM6143393 COSM6143394 |
339 | S>R | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA Cosmic |
| rs911589242 | 342 | E>* | No |
TOPMed gnomAD |
|
| rs1336729101 | 342 | E>G | No | gnomAD | |
| rs911589242 | 342 | E>K | No |
TOPMed gnomAD |
|
|
COSM4704544 COSM4704543 |
343 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2042101394 | 345 | S>P | No | gnomAD | |
| rs1325689400 | 347 | L>V | No | gnomAD | |
|
rs757255183 COSM4704542 COSM4704541 |
350 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| TCGA novel | 354 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766555066 | 355 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs2041923136 | 356 | L>F | No | Ensembl | |
| rs2041923054 | 357 | G>R | No | TOPMed | |
| rs1286077239 | 358 | N>H | No | gnomAD | |
| rs201658620 | 359 | I>N | No |
1000Genomes TOPMed gnomAD |
|
| rs201658620 | 359 | I>T | No |
1000Genomes TOPMed gnomAD |
|
| rs2041922939 | 359 | I>V | No | Ensembl | |
|
COSM4941217 COSM4941218 |
364 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2041922279 | 364 | E>V | No | Ensembl | |
| rs757236070 | 367 | T>A | No |
ExAC gnomAD |
|
| rs1026635988 | 367 | T>I | No | gnomAD | |
| rs1026635988 | 367 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2151282531 | 368 | D>E | No | Ensembl | |
|
COSM3402103 COSM3402104 |
369 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200447515 | 370 | A>V | No | 1000Genomes | |
| rs559404135 | 371 | S>Y | No |
TOPMed gnomAD |
|
|
CA10587895 rs886038835 RCV000249420 |
372 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1382985978 | 373 | P>S | No | gnomAD | |
| TCGA novel | 376 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2041847448 | 380 | K>T | No | TOPMed | |
| rs75309011 | 381 | V>A | No | 1000Genomes | |
| rs752571362 | 381 | V>I | No |
ExAC gnomAD |
|
| rs758525514 | 385 | M>I | No |
ExAC gnomAD |
|
| rs2151278675 | 385 | M>V | No | Ensembl | |
|
COSM3506358 COSM3506359 |
386 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1444418074 | 386 | G>V | No | gnomAD | |
| rs2151278661 | 389 | V>M | No | Ensembl | |
| rs369447331 | 390 | T>I | No |
ESP TOPMed |
|
| TCGA novel | 391 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1171114070 | 393 | T>A | No |
TOPMed gnomAD |
|
|
COSM434705 COSM434704 |
393 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs373601062 | 396 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3506356 COSM3506357 |
399 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767036635 | 400 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs767036635 | 400 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs773998062 | 401 | I>N | No |
ExAC TOPMed gnomAD |
|
|
RCV000788252 rs1596795086 |
401 | I>V | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 402 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748924540 | 403 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs769444338 | 405 | R>* | No |
ExAC gnomAD |
|
| rs2041845556 | 406 | D>E | No | TOPMed | |
| rs1164599820 | 407 | V>M | No | Ensembl | |
|
COSM471364 COSM471365 |
411 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1367891242 | 411 | A>V | No | TOPMed | |
| rs1406368749 | 413 | T>I | No |
TOPMed gnomAD |
|
| rs1406368749 | 413 | T>R | No |
TOPMed gnomAD |
|
|
COSM967476 COSM967475 |
415 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1596795002 | 415 | E>Q | No | Ensembl | |
| rs1225659801 | 416 | Q>* | No | gnomAD | |
| rs2041844568 | 416 | Q>R | No | gnomAD | |
|
COSM1376102 COSM1376101 |
417 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777822332 | 421 | V>A | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 423 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM967474 COSM967473 |
424 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs752949440 | 425 | A>V | No |
ExAC gnomAD |
|
| rs2041822687 | 426 | K>R | No | Ensembl | |
|
COSM5005988 COSM5005987 |
428 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1596793612 | 430 | E>D | No | Ensembl | |
|
rs1452623732 COSM4058599 COSM4058598 |
431 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs2041821891 | 432 | L>F | No | Ensembl | |
| rs754636432 | 434 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs375276152 | 434 | R>S | No |
ESP ExAC gnomAD |
|
| rs2151277266 | 435 | W>R | No | Ensembl | |
| rs2041821581 | 436 | I>L | No | Ensembl | |
| rs1489621279 | 437 | L>H | No |
TOPMed gnomAD |
|
| TCGA novel | 438 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1023259838 | 438 | T>N | No | TOPMed | |
| rs1023259838 | 438 | T>S | No | TOPMed | |
|
COSM4058596 COSM4058597 |
442 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1234940132 | 445 | D>E | No | gnomAD | |
| rs776623592 | 446 | K>N | No |
ExAC gnomAD |
|
| rs2041820185 | 447 | T>I | No | TOPMed | |
| rs1596793460 | 448 | H>P | No | TOPMed | |
|
COSM1376100 COSM1376099 rs1362359781 |
449 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1459183859 | 450 | Q>H | No | Ensembl | |
| rs2041819677 | 451 | G>E | No | Ensembl | |
|
COSM6143395 COSM6143396 |
451 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs77085387 | 453 | S>A | No | Ensembl | |
| rs1382664749 | 453 | S>C | No | TOPMed | |
|
COSM4916764 COSM4916763 |
458 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1227376960 | 460 | I>L | No | TOPMed | |
| rs1376376626 | 460 | I>T | No | gnomAD | |
| rs1227376960 | 460 | I>V | No | TOPMed | |
| TCGA novel | 461 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3817292 COSM3817291 |
464 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1460767349 | 466 | F>S | No |
TOPMed gnomAD |
|
| rs1392496967 | 472 | E>G | No | gnomAD | |
|
rs750935497 COSM967472 COSM967471 |
472 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs554373758 | 480 | N>K | No |
TOPMed gnomAD |
|
| rs2041773799 | 480 | N>T | No | Ensembl | |
| rs755991591 | 481 | E>K | No |
ExAC gnomAD |
|
| TCGA novel | 484 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151274957 | 486 | L>F | No | Ensembl | |
| rs767343986 | 490 | T>S | No |
ExAC gnomAD |
|
| rs1278445093 | 496 | Q>H | No | TOPMed | |
| rs2041772785 | 497 | E>Q | No | Ensembl | |
| rs2041772545 | 498 | E>K | No | Ensembl | |
| rs2041772077 | 502 | E>Q | No | Ensembl | |
| rs1319218209 | 503 | G>S | No | gnomAD | |
| rs775783264 | 505 | E>D | No |
ExAC gnomAD |
|
| rs747217502 | 505 | E>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM3506349 COSM3506348 |
509 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1433765188 | 516 | Q>H | No | Ensembl | |
| rs1308058516 | 518 | C>F | No |
TOPMed gnomAD |
|
| rs371336827 | 519 | I>L | No |
ESP TOPMed gnomAD |
|
| rs959105164 | 519 | I>M | No |
TOPMed gnomAD |
|
| rs1555562769 | 523 | E>D | No |
TOPMed gnomAD |
|
| rs1555562770 | 523 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs750288554 | 525 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs1314880898 | 526 | N>S | No | gnomAD | |
| rs774850250 | 528 | P>L | No |
ExAC gnomAD |
|
| rs1358632004 | 529 | P>S | No | gnomAD | |
| rs763607609 | 537 | E>D | No |
ExAC gnomAD |
|
|
rs794728666 CA306495 RCV000182493 |
540 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1200198066 | 540 | W>G | No | Ensembl | |
| rs2041719767 | 543 | K>Q | No | TOPMed | |
|
COSM434700 COSM434701 |
544 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2041719693 | 544 | A>T | No | Ensembl | |
| rs2041719479 | 546 | D>G | No | Ensembl | |
| rs780717336 | 547 | K>N | No |
ExAC gnomAD |
|
| rs2041719116 | 550 | V>M | No | gnomAD | |
| rs746637734 | 552 | K>E | No |
ExAC gnomAD |
|
| rs1555562404 | 553 | L>V | No | Ensembl | |
| rs1439991530 | 557 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 557 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1274162711 | 557 | Q>P | No | gnomAD | |
| TCGA novel | 558 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM245852 | 558 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756161600 | 559 | S>C | No |
ExAC gnomAD |
|
| rs756161600 | 559 | S>G | No |
ExAC gnomAD |
|
|
TCGA novel rs752880484 |
559 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC TOPMed gnomAD |
| rs752880484 | 559 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs2151272894 | 561 | P>L | No | Ensembl | |
| rs201401918 | 563 | F>L | No |
1000Genomes ExAC gnomAD |
|
| rs202225168 | 565 | K>R | No | 1000Genomes | |
|
rs2151272880 RCV001767919 |
566 | P>A | No |
ClinVar Ensembl dbSNP |
|
| rs2041717212 | 569 | L>P | No | gnomAD | |
| rs2041717134 | 570 | K>Q | No | Ensembl | |
|
RCV000182558 CA306673 rs794728678 |
572 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs2151272852 RCV002224342 |
575 | F>L | No |
ClinVar Ensembl dbSNP |
|
| rs751811080 | 577 | I>V | No |
ExAC gnomAD |
|
| rs2041715890 | 582 | G>R | No | Ensembl | |
| rs763680596 | 584 | V>G | No |
ExAC gnomAD |
|
| TCGA novel | 584 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1049942581 | 585 | D>N | No | Ensembl | |
| rs1049942581 | 585 | D>Y | No | Ensembl | |
| rs2151269040 | 588 | A>T | No | Ensembl | |
| rs745516001 | 590 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs1596782885 | 596 | M>V | No | Ensembl | |
|
rs2151268988 RCV002223416 |
597 | D>A | No |
ClinVar Ensembl dbSNP |
|
|
rs770613752 COSM4058594 COSM4058595 |
598 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs777535864 | 602 | N>S | No |
ExAC TOPMed gnomAD |
|
|
COSM3506341 COSM3506340 |
605 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2041627821 | 608 | N>K | No | Ensembl | |
| rs566821376 | 616 | A>T | No |
1000Genomes ExAC gnomAD |
|
| rs1233324109 | 617 | D>E | No |
TOPMed gnomAD |
|
| rs1233867074 | 617 | D>G | No |
TOPMed gnomAD |
|
| rs111981883 | 619 | W>R | No | Ensembl | |
| rs773829617 | 621 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs2041533506 | 622 | V>A | No | Ensembl | |
| rs1340696910 | 622 | V>M | No | gnomAD | |
| TCGA novel | 623 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201991156 | 624 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1486891893 | 625 | I>N | No |
TOPMed gnomAD |
|
| rs2041533083 | 626 | V>M | No |
TOPMed gnomAD |
|
| rs1458091563 | 627 | G>A | No |
TOPMed gnomAD |
|
| rs1458091563 | 627 | G>V | No |
TOPMed gnomAD |
|
| rs761889706 | 629 | D>G | No |
ExAC gnomAD |
|
| rs1196372794 | 630 | Q>* | No | gnomAD | |
| rs2151264072 | 631 | M>V | No | Ensembl | |
| rs966733533 | 637 | S>N | No | TOPMed | |
| rs1329663702 | 639 | L>P | No |
TOPMed gnomAD |
|
| COSM116588 | 639 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1010764261 | 640 | P>S | No |
TOPMed gnomAD |
|
| rs2041531591 | 641 | S>I | No | Ensembl | |
| rs2041530971 | 646 | K>R | No | Ensembl | |
| rs1160451543 | 651 | R>G | No |
TOPMed gnomAD |
|
| rs1466960409 | 651 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 652 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2041530300 | 653 | V>A | No | Ensembl | |
| rs1237354544 | 653 | V>L | No | gnomAD | |
| rs2041530225 | 654 | G>W | No | Ensembl | |
| rs781616886 | 655 | Q>P | No |
ExAC gnomAD |
|
| rs1241527715 | 665 | M>I | No | gnomAD | |
|
COSM3506336 COSM3506337 |
666 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM967459 rs760656490 COSM967460 |
669 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs760656490 | 669 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs111404182 | 669 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1385302637 | 671 | T>A | No | gnomAD | |
| rs2041527871 | 671 | T>S | No |
TOPMed gnomAD |
|
| rs749498320 | 672 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs1201128693 | 674 | N>S | No |
TOPMed gnomAD |
|
|
COSM967457 COSM967458 rs926424189 |
676 | V>M | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs748458484 | 677 | R>C | No |
ExAC gnomAD |
|
| rs2041526993 | 679 | I>L | No | Ensembl | |
| rs781520642 | 681 | P>H | No |
ExAC gnomAD |
|
| rs781520642 | 681 | P>L | No |
ExAC gnomAD |
|
|
COSM967456 COSM967455 |
682 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs980710782 RCV002224568 |
683 | H>R | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs547459589 | 684 | E>Q | No |
ExAC TOPMed gnomAD |
|
|
RCV000757518 rs1567726588 |
686 | R>T | No |
ClinVar Ensembl dbSNP |
|
| rs201595066 | 687 | S>A | No | Ensembl | |
| rs201595066 | 687 | S>T | No | Ensembl | |
| rs760793367 | 688 | G>C | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 691 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1243698832 | 691 | D>Y | No | gnomAD | |
| rs1355701869 | 692 | A>S | No | gnomAD | |
|
COSM4058590 COSM4058591 |
692 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs891485281 | 693 | F>L | No | Ensembl | |
| rs1311913510 | 695 | V>M | No | TOPMed | |
|
COSM1301656 COSM1301657 |
697 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1317575433 | 697 | E>D | No |
TOPMed gnomAD |
|
| rs886038932 | 700 | R>G | No |
TOPMed gnomAD |
|
|
COSM1376094 COSM1376093 |
702 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777138026 | 702 | N>S | No | ExAC | |
|
COSM967449 COSM967450 |
704 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754715839 | 706 | E>* | No |
ExAC gnomAD |
|
|
COSM117388 rs567285465 |
709 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD |
| rs1192001129 | 709 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
COSM3387233 COSM3387234 |
712 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000788177 rs1555560489 |
714 | G>A | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 714 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567724574 | 717 | N>S | No |
TOPMed gnomAD |
|
| rs754008415 | 719 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs2041468544 | 722 | Q>R | No | TOPMed | |
| rs906918076 | 726 | Q>R | No | gnomAD | |
| rs1360594189 | 727 | R>H | No |
TOPMed gnomAD |
|
| TCGA novel | 729 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1173410086 | 729 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1240972361 | 729 | E>G | No | gnomAD | |
| rs2041463490 | 734 | N>S | No | Ensembl | |
| rs746659820 | 735 | A>T | No |
ExAC gnomAD |
|
| rs914397038 | 736 | I>S | No | TOPMed | |
| TCGA novel | 739 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1381044168 | 739 | G>R | No | gnomAD | |
|
COSM3506332 COSM3506333 |
743 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1031350298 | 743 | G>R | No |
TOPMed gnomAD |
|
| rs2041462418 | 744 | K>N | No | Ensembl | |
| rs1489349194 | 744 | K>T | No |
TOPMed gnomAD |
|
| rs1208240975 | 745 | Q>L | No | TOPMed | |
|
COSM3988257 COSM3988256 |
746 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756234437 | 748 | I>V | No |
ExAC gnomAD |
|
| TCGA novel | 750 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748236620 | 750 | M>K | No |
ExAC gnomAD |
|
| rs2041462014 | 750 | M>V | No | gnomAD | |
| rs781475022 | 751 | I>L | No |
ExAC TOPMed gnomAD |
|
|
COSM701868 COSM701867 |
751 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs781475022 | 751 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs897376321 | 754 | L>P | No | Ensembl | |
| rs2041457024 | 755 | E>Q | No | TOPMed | |
|
COSM3420785 COSM3420784 |
757 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs147056835 | 758 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs747262043 | 759 | N>S | No |
ExAC gnomAD |
|
| rs2041456567 | 760 | L>* | No | Ensembl | |
|
COSM1376091 COSM1376092 |
764 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2041456064 | 765 | Q>E | No | Ensembl | |
|
TCGA novel rs750809712 |
765 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
| rs754320940 | 770 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs571704734 | 770 | F>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1216128 rs1192865849 |
771 | R>Q | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs147897132 | 774 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1450432946 | 778 | L>V | No | TOPMed | |
|
COSM3747984 COSM3747985 |
780 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM5535025 COSM5535024 |
780 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1479208928 | 783 | D>E | No |
TOPMed gnomAD |
|
|
COSM75512 COSM4947546 |
786 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1264628663 | 787 | T>I | No | gnomAD | |
| rs768858261 | 788 | D>Y | No |
ExAC gnomAD |
|
| rs924500062 | 791 | M>T | No | Ensembl | |
| TCGA novel | 792 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2151259967 RCV002269764 |
792 | A>V | No |
ClinVar Ensembl dbSNP |
|
| rs1210863794 | 793 | F>L | No |
TOPMed gnomAD |
|
|
COSM471363 COSM471362 |
794 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761994488 | 795 | A>E | No | Ensembl | |
| rs746070372 | 796 | M>T | No |
ExAC TOPMed gnomAD |
|
|
COSM5521757 CA7922301 RCV000489246 rs779195096 COSM5521758 |
798 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1203595558 | 802 | A>D | No | TOPMed | |
| rs1202010177 | 810 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs774279707 | 815 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs1378823876 | 816 | M>T | No | gnomAD | |
| rs1243566183 | 816 | M>V | No |
TOPMed gnomAD |
|
| rs201728337 | 818 | V>G | No | Ensembl | |
| rs2041383645 | 818 | V>M | No | TOPMed | |
| rs1430368669 | 820 | Q>E | No | TOPMed | |
| TCGA novel | 820 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201306276 | 820 | Q>R | No |
1000Genomes ExAC |
|
|
COSM3506326 COSM3506327 |
823 | C>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs773612208 | 824 | A>S | No |
ExAC TOPMed gnomAD |
|
|
COSM967448 COSM967447 rs773612208 |
824 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs748629055 | 825 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs748629055 | 825 | A>T | No |
ExAC TOPMed gnomAD |
|
|
RCV001776826 rs1436181127 RCV002266014 |
826 | Y>H | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs377315246 | 827 | L>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs779428674 | 830 | R>Q | No |
ExAC gnomAD |
|
| rs374264036 | 830 | R>W | No |
ESP ExAC gnomAD |
|
|
COSM294589 COSM294590 |
833 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs79779946 | 836 | R>G | No | Ensembl | |
| rs1468754202 | 839 | T>A | No | gnomAD | |
| rs1248564780 | 839 | T>I | No | gnomAD | |
|
RCV000996225 rs1596768835 |
840 | K>E | No |
ClinVar Ensembl dbSNP |
|
|
COSM3887966 COSM3887965 |
841 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1177419430 | 846 | Q>K | No | gnomAD | |
| rs370512756 | 849 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs370512756 | 849 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 851 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs80034951 | 851 | E>G | No |
ExAC gnomAD |
|
| rs867589365 | 851 | E>K | No | Ensembl | |
| rs761940254 | 852 | E>G | No |
ExAC gnomAD |
|
| rs200572503 | 853 | E>A | No |
TOPMed gnomAD |
|
| rs2041283961 | 853 | E>K | No | Ensembl | |
|
COSM4058587 COSM4058586 |
855 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1244685142 | 855 | Q>K | No |
TOPMed gnomAD |
|
| rs2041283280 | 855 | Q>R | No | TOPMed | |
| rs1203930286 | 856 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1322351885 | 856 | A>V | No | gnomAD | |
| rs2041282660 | 859 | D>E | No | TOPMed | |
| TCGA novel | 860 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1801902 | 864 | T>A | No | Ensembl | |
| rs776100927 | 864 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs776100927 | 864 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs2041282044 | 866 | E>G | No | TOPMed | |
| rs1333590764 | 868 | Q>* | No | gnomAD | |
| rs918585006 | 869 | Q>* | No | gnomAD | |
| rs918585006 | 869 | Q>E | No | gnomAD | |
| rs555471585 | 869 | Q>H | No |
1000Genomes ExAC gnomAD |
|
| rs867202175 | 870 | K>M | No | Ensembl | |
| rs748867861 | 873 | N>D | No |
ExAC gnomAD |
|
| rs1386895618 | 875 | L>F | No | gnomAD | |
| rs2041281146 | 875 | L>R | No | Ensembl | |
| rs2041281062 | 876 | K>Q | No | gnomAD | |
|
COSM3506324 COSM3506325 |
879 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1184028559 | 880 | Q>E | No |
TOPMed gnomAD |
|
| rs1567718800 | 880 | Q>R | No | Ensembl | |
| rs754899871 | 884 | Q>H | No | ExAC | |
| rs2041280252 | 884 | Q>R | No | TOPMed | |
|
rs760141485 COSM2149355 COSM2149354 |
885 | L>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
rs2041276246 COSM4058583 COSM4058582 |
886 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
|
COSM3506322 rs1406909177 COSM3506323 |
886 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1445320738 | 888 | E>G | No |
TOPMed gnomAD |
|
| rs2151250734 | 888 | E>K | No | Ensembl | |
| rs1057518502 | 889 | K>R | No | Ensembl | |
|
rs1057518502 RCV000412984 CA16042972 |
889 | K>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1021297987 | 893 | Q>H | No | Ensembl | |
| rs1363506426 | 895 | Q>H | No | gnomAD | |
|
CA7922184 RCV000253046 rs772769846 |
898 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs866907050 | 900 | T>K | No | Ensembl | |
| rs1179205872 | 901 | E>Q | No | gnomAD | |
|
RCV001776847 rs2151250600 |
902 | L>V | No |
ClinVar Ensembl dbSNP |
|
| rs769403678 | 904 | A>T | No |
ExAC gnomAD |
|
| rs2041274483 | 905 | E>V | No | Ensembl | |
|
COSM1678855 rs1056605428 |
906 | A>T | ovary [Cosmic] | No |
cosmic curated TOPMed gnomAD |
|
rs146404868 COSM2127159 |
910 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD |
| rs761426006 | 911 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs761426006 | 911 | V>M | No |
ExAC TOPMed gnomAD |
|
|
rs918714049 COSM967444 COSM967443 |
912 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs142128375 | 914 | A>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs142128375 | 914 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs746982396 | 914 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2041273043 | 917 | K>Q | No | Ensembl | |
| rs2041272957 | 917 | K>T | No | Ensembl | |
| rs1272172824 | 922 | E>D | No | TOPMed | |
| rs867824508 | 922 | E>K | No | Ensembl | |
| rs756452596 | 925 | H>N | No |
ExAC gnomAD |
|
|
COSM3506318 COSM3506319 |
926 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs752918014 | 926 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1025259076 | 930 | R>L | No |
TOPMed gnomAD |
|
| rs1205837925 | 932 | E>G | No | gnomAD | |
| rs1596763082 | 932 | E>Q | No | Ensembl | |
|
COSM3506317 COSM3506316 |
933 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2041271321 | 935 | E>K | No | Ensembl | |
|
rs2041271138 RCV001755348 |
937 | R>G | No |
ClinVar Ensembl dbSNP |
|
| rs1433745376 | 937 | R>K | No |
TOPMed gnomAD |
|
| rs1227980651 | 938 | G>R | No |
TOPMed gnomAD |
|
|
COSM4750347 COSM4750346 |
939 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1406426454 | 942 | Q>K | No | gnomAD | |
| rs1472336132 | 944 | E>G | No | gnomAD | |
| rs1420946532 | 945 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
RCV002223451 rs2041270139 |
946 | K>* | No |
ClinVar Ensembl dbSNP |
|
| rs2041270056 | 946 | K>R | No | TOPMed | |
| rs2151250312 | 947 | K>T | No | Ensembl | |
| rs749945246 | 948 | M>T | No |
ExAC gnomAD |
|
| rs985352348 | 949 | A>D | No |
TOPMed gnomAD |
|
| rs2041269226 | 952 | M>I | No | Ensembl | |
| rs1181241409 | 954 | D>N | No | gnomAD | |
|
TCGA novel rs2151248207 |
956 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2041233131 | 960 | E>* | No | gnomAD | |
| rs2041232895 | 961 | E>K | No | Ensembl | |
| rs750897025 | 962 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs113696032 | 965 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1376086 COSM1376085 |
965 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2041232280 | 966 | R>T | No | gnomAD | |
| rs753502706 | 972 | E>V | No |
ExAC gnomAD |
|
| TCGA novel | 974 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1425783484 | 978 | A>T | No | gnomAD | |
| COSM2127156 | 979 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2041231142 | 981 | K>N | No | TOPMed | |
| rs1163072851 | 984 | E>* | No | gnomAD | |
| rs1474460863 | 984 | E>G | No |
TOPMed gnomAD |
|
| rs974621161 | 985 | D>G | No |
TOPMed gnomAD |
|
| rs1409062479 | 985 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1167460119 | 986 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs770004584 | 987 | I>N | No |
ExAC TOPMed gnomAD |
|
| rs539651592 | 990 | M>T | No |
1000Genomes ExAC gnomAD |
|
| rs368193129 | 991 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1365275899 | 992 | D>G | No | TOPMed | |
| rs2041229627 | 993 | Q>E | No | Ensembl | |
| rs780308043 | 993 | Q>H | No |
ExAC gnomAD |
|
| rs746367959 | 995 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs779337653 | 995 | N>S | No |
ExAC gnomAD |
|
|
RCV003238649 rs2151247930 |
998 | S>* | No |
ClinVar Ensembl dbSNP |
|
| rs2041228837 | 999 | K>E | No | TOPMed | |
| rs894429587 | 999 | K>R | No | TOPMed | |
| TCGA novel | 1002 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755584033 | 1002 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1469418234 | 1006 | E>D | No |
TOPMed gnomAD |
|
| rs368879422 | 1006 | E>V | No |
ESP ExAC gnomAD |
|
| rs1357435865 | 1007 | R>T | No |
TOPMed gnomAD |
|
| rs754579611 | 1009 | S>G | No |
ExAC gnomAD |
|
| rs2041190293 | 1009 | S>T | No | TOPMed | |
| rs762345668 | 1013 | T>A | No | Ensembl | |
| rs1347671761 | 1014 | N>H | No | TOPMed | |
| TCGA novel | 1015 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1019 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775419503 | 1022 | A>D | No |
ExAC gnomAD |
|
| rs2041189027 | 1026 | T>P | No | TOPMed | |
| rs1207278935 | 1030 | N>S | No | gnomAD | |
| rs759725475 | 1032 | H>Q | No |
ExAC gnomAD |
|
|
rs930631886 COSM4848301 COSM4848302 COSM1708774 |
1035 | M>I | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1596758465 | 1036 | I>V | No | Ensembl | |
| rs1223757069 | 1039 | L>M | No | TOPMed | |
| rs749800008 | 1040 | E>K | No |
ExAC gnomAD |
|
| rs749800008 | 1040 | E>Q | No |
ExAC gnomAD |
|
| rs771297865 | 1042 | R>L | No |
ExAC TOPMed gnomAD |
|
|
COSM967440 COSM967439 |
1046 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3887963 COSM3887964 |
1046 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1250356971 | 1048 | K>R | No | gnomAD | |
| rs1490973342 | 1049 | S>R | No |
TOPMed gnomAD |
|
|
rs1270195304 CA394863320 RCV000627320 |
1050 | R>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs12149651 | 1053 | L>M | No |
TOPMed gnomAD |
|
|
COSM6078312 COSM6078311 |
1054 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1328609476 | 1055 | K>N | No |
TOPMed gnomAD |
|
| rs1239960395 | 1055 | K>Q | No | gnomAD | |
|
CA242542 rs794727400 RCV000176549 |
1057 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1464255846 | 1058 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs780779062 | 1059 | K>E | No |
ExAC gnomAD |
|
| rs866174594 | 1061 | E>K | No | Ensembl | |
| rs1422225213 | 1062 | G>D | No |
TOPMed gnomAD |
|
| rs746667349 | 1062 | G>S | No |
ExAC gnomAD |
|
| rs2041157009 | 1063 | D>G | No | Ensembl | |
| TCGA novel | 1064 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs200315340 | 1066 | D>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1066 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1488539058 | 1067 | F>L | No |
TOPMed gnomAD |
|
| rs1454011493 | 1068 | H>P | No |
TOPMed gnomAD |
|
| rs140143700 | 1068 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1156371168 | 1068 | H>Y | No | gnomAD | |
| rs754992922 | 1069 | E>D | No |
ExAC gnomAD |
|
| rs1430685942 | 1069 | E>K | No | gnomAD | |
| rs1430685942 | 1069 | E>Q | No | gnomAD | |
| rs147848256 | 1070 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs374947185 | 1071 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1464645379 | 1072 | A>G | No | gnomAD | |
| rs759155353 | 1072 | A>S | No |
TOPMed gnomAD |
|
| rs371205331 | 1076 | A>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs368633753 | 1077 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151244126 | 1078 | I>F | No | Ensembl | |
| rs543770978 | 1079 | A>V | No | Ensembl | |
| rs1567714522 | 1082 | K>N | No | Ensembl | |
| rs2041154290 | 1082 | K>R | No | Ensembl | |
| rs2041154142 | 1084 | Q>* | No | Ensembl | |
| rs1567714517 | 1084 | Q>R | No | Ensembl | |
| rs746576985 | 1086 | A>V | No |
ExAC gnomAD |
|
| rs775135568 | 1087 | K>R | No |
ExAC gnomAD |
|
| TCGA novel | 1088 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1406094927 | 1089 | E>K | No | gnomAD | |
| rs2041153470 | 1090 | E>V | No | TOPMed | |
|
RCV000788432 rs1596756439 |
1091 | E>missing | No |
ClinVar dbSNP |
|
| rs201443445 | 1091 | E>* | No | gnomAD | |
| rs201443445 | 1091 | E>K | No | gnomAD | |
| rs1375253334 | 1091 | E>V | No | gnomAD | |
| rs2041152933 | 1093 | Q>H | No | Ensembl | |
| rs534384552 | 1094 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs777744231 | 1095 | A>V | No |
ExAC TOPMed gnomAD |
|
|
RCV001757744 rs2151244008 |
1096 | L>P | No |
ClinVar Ensembl dbSNP |
|
|
rs147605116 COSM3506315 COSM3506314 |
1097 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1277948896 | 1097 | A>T | No |
TOPMed gnomAD |
|
| rs757497342 | 1099 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs757497342 | 1099 | L>V | No |
ExAC TOPMed gnomAD |
|
|
COSM3887959 COSM3887960 |
1100 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1102 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs370854451 | 1103 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs886051759 | 1104 | A>G | No |
TOPMed gnomAD |
|
| rs773907929 | 1105 | Q>L | No |
ExAC gnomAD |
|
| rs770525773 | 1106 | K>N | No |
ExAC gnomAD |
|
|
rs777156978 RCV000996222 |
1108 | N>S | No |
ClinVar Ensembl dbSNP |
|
| rs777156978 | 1108 | N>T | No | Ensembl | |
|
COSM434694 COSM434695 |
1116 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768628428 | 1117 | E>Q | No |
ExAC gnomAD |
|
| rs2041091681 | 1118 | G>C | No | TOPMed | |
| rs1321846678 | 1123 | L>R | No | gnomAD | |
|
COSM6143406 COSM6143405 |
1126 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2041090443 | 1128 | D>H | No | Ensembl | |
|
COSM967436 COSM967435 |
1129 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778315061 | 1131 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs187593975 | 1131 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs187593975 COSM701873 COSM701874 |
1131 | R>Q | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM4058581 COSM4058580 |
1132 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1396472563 | 1134 | R>K | No | Ensembl | |
| rs765861775 | 1137 | A>V | No | ExAC | |
|
RCV002224605 rs2151240896 |
1138 | E>G | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 1142 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762541348 | 1142 | R>Q | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1145 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1147 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1149 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768516438 | 1149 | E>K | No |
ExAC gnomAD |
|
| rs996735929 | 1158 | T>I | No |
TOPMed gnomAD |
|
| rs774318386 | 1159 | L>M | No |
ExAC gnomAD |
|
| rs2151240785 | 1160 | D>G | No | Ensembl | |
| rs749532026 | 1161 | S>N | No |
ExAC gnomAD |
|
|
COSM6078314 COSM6078313 |
1161 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778198173 | 1162 | T>P | No |
ExAC gnomAD |
|
| rs756399709 | 1163 | A>V | No |
ExAC gnomAD |
|
| rs901083970 | 1164 | T>S | No |
TOPMed gnomAD |
|
| rs1451088454 | 1166 | Q>E | No | gnomAD | |
| rs748563819 | 1167 | E>A | No |
ExAC TOPMed gnomAD |
|
|
COSM1376083 COSM1376084 |
1167 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1187469688 | 1169 | R>K | No | gnomAD | |
|
COSM471358 COSM471359 |
1169 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1439735700 | 1179 | L>M | No |
TOPMed gnomAD |
|
| TCGA novel | 1179 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs189791138 | 1180 | K>R | No | 1000Genomes | |
| rs764704892 | 1181 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs756926040 | 1181 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs753491377 | 1182 | A>S | No |
ExAC gnomAD |
|
| rs2151236123 | 1183 | L>V | No | Ensembl | |
| rs1897284189 | 1184 | D>H | No | Ensembl | |
| rs1354548720 | 1185 | E>G | No | gnomAD | |
| rs1453043166 | 1186 | E>Q | No |
TOPMed gnomAD |
|
| rs113485966 | 1187 | T>A | No | Ensembl | |
|
RCV000182509 rs746615097 CA306540 |
1188 | R>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs773443243 | 1189 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs775386151 | 1190 | H>R | No | gnomAD | |
| rs1483689635 | 1191 | E>K | No | gnomAD | |
| rs1304972708 | 1192 | A>V | No | TOPMed | |
| rs2041001425 | 1193 | Q>E | No | Ensembl | |
|
rs2151235993 RCV002224734 |
1195 | Q>* | No |
ClinVar Ensembl dbSNP |
|
| rs113275615 | 1197 | M>R | No | TOPMed | |
| rs113275615 | 1197 | M>T | No | TOPMed | |
| rs2041001139 | 1198 | R>G | No | Ensembl | |
|
rs1567710211 RCV000762212 |
1199 | Q>H | No |
ClinVar TOPMed dbSNP |
|
| rs111895315 | 1200 | K>R | No | Ensembl | |
| rs776852765 | 1201 | H>Y | No |
ExAC gnomAD |
|
| rs2040999886 | 1205 | V>A | No |
TOPMed gnomAD |
|
| rs2040999970 | 1205 | V>M | No | Ensembl | |
| rs923022300 | 1206 | E>A | No | Ensembl | |
| rs923022300 | 1206 | E>G | No | Ensembl | |
| rs933047011 | 1206 | E>K | No | Ensembl | |
| rs753448138 | 1207 | E>D | No |
ExAC gnomAD |
|
| rs777546897 | 1209 | T>I | No |
ExAC gnomAD |
|
| TCGA novel | 1210 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1392543955 | 1210 | E>V | No | gnomAD | |
| rs755690346 | 1212 | L>H | No |
ExAC TOPMed gnomAD |
|
|
rs755690346 RCV000996221 |
1212 | L>P | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs755690346 | 1212 | L>R | No |
ExAC TOPMed gnomAD |
|
| rs1379320917 | 1214 | Q>L | No | Ensembl | |
| rs2040997688 | 1215 | F>L | No | TOPMed | |
| rs1258610334 | 1218 | A>V | No | TOPMed | |
| rs746382010 | 1220 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs140189648 | 1221 | N>Y | No | ESP | |
| rs2040801305 | 1222 | L>V | No | TOPMed | |
| rs2040801082 | 1223 | D>G | No | TOPMed | |
|
COSM6078316 COSM6078315 |
1223 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1264829172 | 1223 | D>Y | No | gnomAD | |
| rs1567704963 | 1224 | K>N | No | TOPMed | |
| rs1202214342 | 1225 | N>S | No | gnomAD | |
|
COSM967427 COSM967428 |
1226 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1256500194 | 1227 | Q>E | No | gnomAD | |
| rs777121788 | 1227 | Q>H | No |
ExAC gnomAD |
|
| rs202059386 | 1228 | T>S | No | Ensembl | |
| rs781137820 | 1229 | L>V | No |
ExAC gnomAD |
|
| TCGA novel | 1230 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754761681 | 1232 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs2040799314 | 1233 | N>D | No | gnomAD | |
| rs143520359 | 1234 | A>G | No |
ESP ExAC |
|
| rs16967494 | 1234 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs376103294 | 1235 | D>N | No |
ESP gnomAD |
|
| rs376103294 | 1235 | D>Y | No |
ESP gnomAD |
|
|
RCV000788757 rs1596738708 |
1236 | L>P | No |
ClinVar Ensembl dbSNP |
|
| rs2040798272 | 1237 | A>T | No | gnomAD | |
| rs764031913 | 1237 | A>V | No |
ExAC gnomAD |
|
| rs759954542 | 1238 | G>A | No |
ExAC gnomAD |
|
| rs759954542 | 1238 | G>E | No |
ExAC gnomAD |
|
|
COSM6143409 COSM6143410 |
1238 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1256787988 | 1239 | E>Q | No | gnomAD | |
| rs111318460 | 1240 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs1268033663 | 1244 | G>S | No | gnomAD | |
| rs2151225516 | 1246 | A>G | No | Ensembl | |
| rs2040796143 | 1246 | A>T | No | TOPMed | |
| rs747848745 | 1247 | K>N | No |
ExAC gnomAD |
|
| rs1413431094 | 1248 | Q>E | No | gnomAD | |
| rs1413431094 | 1248 | Q>K | No | gnomAD | |
| rs2040795788 | 1249 | E>Q | No | Ensembl | |
| rs2151225489 | 1250 | V>E | No | Ensembl | |
| rs1006269156 | 1252 | H>D | No |
TOPMed gnomAD |
|
| rs754671760 | 1252 | H>L | No |
ExAC TOPMed gnomAD |
|
| rs754671760 | 1252 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs1309068172 | 1253 | K>E | No |
TOPMed gnomAD |
|
| TCGA novel | 1255 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs537132043 | 1255 | K>E | No |
1000Genomes ExAC gnomAD |
|
| rs750288054 | 1256 | K>M | No |
ExAC TOPMed gnomAD |
|
| rs764242549 | 1256 | K>N | No |
ExAC gnomAD |
|
| rs750288054 | 1256 | K>R | No |
ExAC TOPMed gnomAD |
|
|
CA16609773 RCV000454521 rs1060499879 |
1260 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2040793737 | 1260 | Q>R | No | gnomAD | |
| rs767764289 | 1262 | Q>* | No |
ExAC gnomAD |
|
| rs201831933 | 1264 | L>Q | No |
1000Genomes TOPMed |
|
| rs1392128823 | 1265 | Q>* | No | TOPMed | |
| rs766609666 | 1265 | Q>L | No |
ExAC gnomAD |
|
| rs1230901143 | 1266 | S>F | No | gnomAD | |
| rs1478237955 | 1268 | C>S | No | gnomAD | |
| rs773533472 | 1269 | S>R | No |
ExAC gnomAD |
|
| TCGA novel | 1270 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs568726096 | 1271 | G>A | No |
1000Genomes ExAC gnomAD |
|
| rs568726096 | 1271 | G>V | No |
1000Genomes ExAC gnomAD |
|
| rs776252415 | 1272 | E>* | No |
ExAC gnomAD |
|
| rs776252415 | 1272 | E>K | No |
ExAC gnomAD |
|
| rs1473608237 | 1273 | R>L | No |
TOPMed gnomAD |
|
| rs758065642 | 1274 | A>T | No |
ExAC gnomAD |
|
| rs1182738877 | 1275 | R>G | No |
TOPMed gnomAD |
|
| rs757217200 | 1277 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1265698879 | 1278 | L>P | No | TOPMed | |
| rs751709306 | 1279 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs1279730451 | 1280 | D>E | No |
TOPMed gnomAD |
|
| rs2040789824 | 1280 | D>G | No | Ensembl | |
| rs766780039 | 1281 | K>E | No |
ExAC gnomAD |
|
| TCGA novel | 1282 | V>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2040789108 | 1284 | K>R | No | Ensembl | |
| rs1330803046 | 1286 | Q>H | No | gnomAD | |
| rs139096254 | 1287 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs16967510 | 1289 | V>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2040678973 | 1290 | E>A | No | Ensembl | |
| rs771664446 | 1290 | E>K | No |
ExAC gnomAD |
|
| rs759176544 | 1291 | S>N | No |
ExAC gnomAD |
|
|
COSM340084 rs1206843088 |
1291 | S>R | lung [Cosmic] | No |
cosmic curated gnomAD |
| rs151058774 | 1292 | V>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2040678071 | 1294 | G>V | No | Ensembl | |
| rs541280738 | 1297 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2040677260 | 1299 | A>V | No | Ensembl | |
| rs1339119390 | 1300 | E>K | No |
TOPMed gnomAD |
|
| rs996925866 | 1301 | G>R | No | Ensembl | |
| rs996925866 | 1301 | G>W | No | Ensembl | |
| rs1431386992 | 1303 | A>T | No |
TOPMed gnomAD |
|
| rs1169233127 | 1304 | I>M | No | gnomAD | |
| rs920880733 | 1304 | I>T | No | Ensembl | |
| rs1426235666 | 1305 | K>N | No | gnomAD | |
| rs2040676270 | 1305 | K>T | No |
TOPMed gnomAD |
|
| rs764769079 | 1307 | A>V | No |
ExAC gnomAD |
|
| rs185720909 | 1311 | A>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs185720909 | 1311 | A>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1483548054 | 1311 | A>T | No |
TOPMed gnomAD |
|
| rs1375279466 | 1314 | S>T | No | gnomAD | |
|
COSM269659 COSM269658 |
1318 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs914882669 | 1320 | T>P | No | Ensembl | |
| rs1291364486 | 1321 | Q>H | No | gnomAD | |
| rs1354805868 | 1321 | Q>R | No | gnomAD | |
| TCGA novel | 1326 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1193183750 | 1326 | E>Q | No | gnomAD | |
| rs764978285 | 1329 | R>W | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1330 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs776574034 | 1333 | N>I | No |
ExAC gnomAD |
|
| rs776574034 | 1333 | N>S | No |
ExAC gnomAD |
|
| rs2040664093 | 1336 | T>A | No | Ensembl | |
| rs1369457903 | 1341 | L>M | No | TOPMed | |
| TCGA novel | 1343 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1157274278 | 1344 | E>K | No | gnomAD | |
| rs1378528408 | 1345 | R>W | No | gnomAD | |
|
COSM6078317 COSM6078318 |
1346 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4058577 COSM4058576 |
1349 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1285916662 | 1350 | D>H | No |
TOPMed gnomAD |
|
|
COSM6143411 COSM6143412 |
1351 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764955677 | 1352 | L>P | No |
ExAC gnomAD |
|
| rs750013920 | 1352 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs760669243 | 1354 | E>D | No |
ExAC gnomAD |
|
| rs2040660485 | 1355 | E>G | No | Ensembl | |
| rs2040660179 | 1357 | E>A | No |
TOPMed gnomAD |
|
|
COSM272980 COSM272981 |
1358 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1227526466 | 1359 | K>N | No |
TOPMed gnomAD |
|
| rs773622802 | 1359 | K>R | No |
ExAC gnomAD |
|
|
RCV000523136 CA394858026 rs1555553235 |
1360 | Q>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2040659441 | 1360 | Q>R | No | Ensembl | |
| rs769899465 | 1361 | N>K | No |
ExAC gnomAD |
|
| rs747473469 | 1364 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs769227102 | 1364 | R>S | No |
ExAC TOPMed gnomAD |
|
|
COSM434692 rs778694636 COSM434693 |
1366 | I>M | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 1366 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2040657857 | 1369 | L>P | No | TOPMed | |
| rs753720387 | 1371 | I>M | No |
ExAC gnomAD |
|
| rs2040657554 | 1371 | I>V | No | TOPMed | |
|
COSM1301654 rs2040642144 COSM1301655 |
1373 | L>V | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
|
RCV002223501 rs2151218530 |
1374 | S>P | No |
ClinVar Ensembl dbSNP |
|
| rs143467011 | 1375 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs1005039470 | 1377 | K>N | No | gnomAD | |
| rs1333178035 | 1379 | K>M | No |
TOPMed gnomAD |
|
| rs2040640997 | 1380 | L>P | No | Ensembl | |
| rs761097049 | 1382 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs775802674 | 1384 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs2040640249 | 1384 | A>V | No | Ensembl | |
| rs1204333980 | 1385 | S>G | No |
TOPMed gnomAD |
|
| TCGA novel | 1385 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2040639843 | 1386 | T>A | No | Ensembl | |
| rs2040639723 | 1386 | T>N | No | TOPMed | |
| rs578005190 | 1388 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs1469373877 | 1390 | L>M | No | gnomAD | |
| rs748813945 | 1391 | E>K | No |
ExAC gnomAD |
|
| rs2040638916 | 1392 | E>* | No | Ensembl | |
| rs2040638571 | 1393 | G>E | No | gnomAD | |
| TCGA novel | 1396 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1303850533 | 1398 | Q>R | No | TOPMed | |
| rs748003956 | 1399 | K>T | No |
ExAC gnomAD |
|
| rs765373729 | 1401 | I>N | No |
ExAC TOPMed gnomAD |
|
| rs775857907 | 1404 | L>V | No |
ExAC gnomAD |
|
| rs2040636408 | 1406 | Q>H | No | gnomAD | |
| rs1324030076 | 1406 | Q>R | No | gnomAD | |
| rs767832212 | 1408 | Y>C | No |
ExAC TOPMed gnomAD |
|
|
RCV001776523 rs2151218259 |
1409 | E>D | No |
ClinVar Ensembl dbSNP |
|
| rs1226945220 | 1409 | E>G | No |
TOPMed gnomAD |
|
| rs1399915743 | 1410 | E>K | No | gnomAD | |
| rs200391659 | 1412 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs1191279805 | 1413 | A>D | No | gnomAD | |
| rs1215643493 | 1414 | A>V | No | gnomAD | |
| rs2040634033 | 1415 | Y>S | No | Ensembl | |
|
COSM4058573 COSM4058572 |
1416 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1235455476 | 1416 | D>H | No |
TOPMed gnomAD |
|
| rs781137890 | 1417 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs2040633172 | 1420 | K>N | No | gnomAD | |
| rs146817436 | 1421 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
|
rs2040632791 TCGA novel |
1422 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1596730155 | 1423 | N>H | No | Ensembl | |
| rs2040632430 | 1425 | L>V | No | Ensembl | |
| rs2040632322 | 1426 | Q>R | No | TOPMed | |
|
rs1596730121 RCV000996218 |
1427 | Q>* | No |
ClinVar Ensembl dbSNP |
|
| rs1435099547 | 1428 | E>D | No |
TOPMed gnomAD |
|
| rs1314555293 | 1428 | E>G | No | gnomAD | |
|
COSM701877 rs1171298608 |
1430 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs2040631334 | 1430 | D>N | No | TOPMed | |
| rs1185402501 | 1433 | V>A | No | gnomAD | |
| rs764485187 | 1434 | V>A | No | TOPMed | |
| rs767885449 | 1438 | N>D | No |
ExAC gnomAD |
|
| rs767885449 | 1438 | N>H | No |
ExAC gnomAD |
|
| rs759880696 | 1438 | N>K | No |
1000Genomes ExAC gnomAD |
|
| rs2040628969 | 1439 | Q>R | No | Ensembl | |
| rs1295006027 | 1442 | L>P | No | gnomAD | |
|
rs141262029 COSM1740288 COSM1740286 |
1443 | V>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs2040627853 | 1444 | S>Y | No | TOPMed | |
| rs761570770 | 1445 | N>S | No |
ExAC gnomAD |
|
| rs1275367249 | 1446 | L>V | No |
TOPMed gnomAD |
|
| rs776485778 | 1447 | E>A | No |
ExAC gnomAD |
|
|
RCV002223523 rs2151217975 |
1448 | K>E | No |
ClinVar Ensembl dbSNP |
|
| rs2040627352 | 1448 | K>N | No | Ensembl | |
| rs779878402 | 1450 | Q>* | No |
ExAC gnomAD |
|
| rs779878402 | 1450 | Q>E | No |
ExAC gnomAD |
|
| rs1463240400 | 1451 | R>S | No |
TOPMed gnomAD |
|
| TCGA novel | 1456 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759363687 | 1459 | E>V | No |
ExAC gnomAD |
|
| rs774106226 | 1460 | E>G | No |
ExAC gnomAD |
|
| rs2040489405 | 1460 | E>K | No | Ensembl | |
| rs2040489167 | 1461 | K>E | No | TOPMed | |
| rs1193164382 | 1463 | I>M | No | gnomAD | |
| rs2040488743 | 1463 | I>N | No | TOPMed | |
| rs1567696365 | 1463 | I>V | No | Ensembl | |
| rs1358518980 | 1464 | S>F | No |
TOPMed gnomAD |
|
| rs758895653 | 1468 | A>T | No |
ExAC TOPMed |
|
| rs997264671 | 1469 | D>G | No | TOPMed | |
|
COSM344395 COSM344394 |
1469 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001757373 rs753301051 |
1470 | E>K | No |
ClinVar Ensembl dbSNP |
|
| rs1053195447 | 1472 | D>A | No | Ensembl | |
| rs763594267 | 1472 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs758663266 | 1473 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs1232945828 | 1474 | A>V | No | gnomAD | |
| rs864622710 | 1480 | E>K | No |
TOPMed gnomAD |
|
| rs1353580314 | 1481 | K>R | No |
TOPMed gnomAD |
|
| TCGA novel | 1482 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3506299 COSM3506298 |
1482 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1383310134 | 1483 | T>I | No | gnomAD | |
| rs1384845358 | 1485 | A>S | No | gnomAD | |
| rs1384845358 | 1485 | A>T | No | gnomAD | |
| rs1212314228 | 1485 | A>V | No |
TOPMed gnomAD |
|
| TCGA novel | 1486 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757872702 | 1488 | L>P | No |
ExAC gnomAD |
|
| rs757872702 | 1488 | L>R | No |
ExAC gnomAD |
|
| rs754307089 | 1490 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1052648046 | 1490 | R>W | No |
TOPMed gnomAD |
|
| rs536153803 | 1491 | A>D | No |
1000Genomes ExAC gnomAD |
|
| rs1200270568 | 1491 | A>T | No | TOPMed | |
| rs1486496020 | 1495 | A>T | No |
TOPMed gnomAD |
|
| rs770997238 | 1497 | E>K | No | Ensembl | |
| rs1378016414 | 1498 | A>T | No |
TOPMed gnomAD |
|
| rs1342399412 | 1501 | E>Q | No | gnomAD | |
| rs2040481873 | 1503 | E>G | No | TOPMed | |
| rs766093291 | 1503 | E>Q | No |
ExAC gnomAD |
|
| rs2151210665 | 1505 | T>A | No | Ensembl | |
| rs1567695980 | 1507 | K>N | No | Ensembl | |
| rs2040480427 | 1507 | K>R | No | Ensembl | |
| TCGA novel | 1511 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1168631155 | 1511 | A>V | No | gnomAD | |
| rs1596721058 | 1512 | E>V | No | Ensembl | |
|
COSM3506294 COSM3506295 |
1513 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2040477564 | 1515 | D>E | No |
TOPMed gnomAD |
|
| rs2040477430 | 1518 | S>N | No | TOPMed | |
|
CA306679 RCV000182560 rs794728679 COSM3506292 COSM3506293 |
1521 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
| rs2040476976 | 1523 | V>A | No | TOPMed | |
| rs919030976 | 1523 | V>M | No | Ensembl | |
| rs1235117711 | 1524 | G>D | No |
TOPMed gnomAD |
|
| rs766725596 | 1527 | V>G | No |
ExAC gnomAD |
|
| rs774544947 | 1527 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs763042464 | 1528 | H>P | No | ExAC | |
| rs2151209018 | 1528 | H>Y | No | Ensembl | |
| rs773627818 | 1529 | E>Q | No | ExAC | |
| rs2151208984 | 1531 | E>A | No | Ensembl | |
| rs769993550 | 1531 | E>Q | No |
ExAC gnomAD |
|
| rs1351788093 | 1532 | K>T | No | gnomAD | |
| rs748529935 | 1533 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs2151208912 | 1536 | A>V | No | Ensembl | |
| rs1318737188 | 1539 | T>I | No | gnomAD | |
| TCGA novel | 1540 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1049173836 | 1540 | Q>R | No |
TOPMed gnomAD |
|
|
COSM4128733 rs1358300741 |
1541 | M>I | thyroid Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA gnomAD |
| rs981501148 | 1541 | M>T | No | Ensembl | |
| rs2040443040 | 1541 | M>V | No | Ensembl | |
| rs1175105709 | 1542 | E>K | No | gnomAD | |
|
rs1555551985 RCV000508152 CA394854448 |
1543 | E>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1543 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000481463 rs1064797005 CA16620075 |
1544 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs150724324 | 1544 | M>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs778784527 | 1544 | M>L | No |
ExAC gnomAD |
|
| rs2151208825 | 1545 | K>N | No | Ensembl | |
| rs1243132688 | 1545 | K>R | No | gnomAD | |
| rs753685135 | 1546 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs764170491 | 1547 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs2151208793 | 1549 | E>* | No | Ensembl | |
| rs751716762 | 1550 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs2040440828 | 1550 | E>D | No |
TOPMed gnomAD |
|
| rs1376818730 | 1550 | E>G | No | gnomAD | |
| rs766298955 | 1551 | L>R | No |
ExAC gnomAD |
|
|
COSM701880 COSM701881 |
1552 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2040440320 | 1552 | E>K | No |
TOPMed gnomAD |
|
| rs2040440320 | 1552 | E>Q | No |
TOPMed gnomAD |
|
| rs141031021 | 1553 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM4058569 COSM4058568 |
1553 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs202231621 | 1555 | L>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2151208689 | 1556 | Q>* | No | Ensembl | |
| rs2151208669 | 1557 | A>V | No | Ensembl | |
| rs111854563 | 1558 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1559 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756906118 | 1559 | E>A | No |
ExAC gnomAD |
|
| rs138863103 | 1561 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2040437847 | 1564 | R>Q | No | TOPMed | |
| rs756121642 | 1564 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001753303 rs2151208581 |
1567 | V>F | No |
ClinVar Ensembl dbSNP |
|
|
COSM967416 COSM967417 |
1568 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151208555 | 1570 | Q>* | No | Ensembl | |
|
COSM673837 rs1189029785 |
1571 | A>V | endometrium [Cosmic] | No |
cosmic curated gnomAD |
| rs2151208528 | 1572 | L>H | No | Ensembl | |
| rs2151208528 | 1572 | L>P | No | Ensembl | |
| rs1266271367 | 1574 | G>S | No |
TOPMed gnomAD |
|
| rs2040436843 | 1574 | G>V | No | gnomAD | |
| TCGA novel | 1575 | Q>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754206363 | 1578 | R>K | No |
ExAC gnomAD |
|
| rs1315936081 | 1582 | A>V | No | gnomAD | |
| rs777170587 | 1583 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs759031841 | 1584 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs773606406 | 1589 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748913486 | 1589 | E>D | No |
ExAC gnomAD |
|
| rs1464537184 | 1589 | E>V | No | gnomAD | |
| rs777737226 | 1590 | K>R | No |
ExAC gnomAD |
|
| TCGA novel | 1591 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237673081 COSM287418 COSM287419 |
1592 | R>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1237673081 | 1592 | R>T | No | gnomAD | |
| rs2151208293 | 1597 | Q>* | No | Ensembl | |
| rs1567693868 | 1598 | L>F | No | Ensembl | |
| rs946667449 | 1598 | L>R | No | TOPMed | |
| rs2040398500 | 1600 | E>G | No |
TOPMed gnomAD |
|
| rs761463510 | 1600 | E>Q | No |
ExAC gnomAD |
|
|
rs776321648 COSM967408 COSM967409 |
1602 | E>D | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD |
| rs1256091786 | 1602 | E>V | No | gnomAD | |
| rs376105806 | 1603 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs2040397767 | 1604 | E>K | No | Ensembl | |
| rs771990666 | 1607 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs190316422 | 1609 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs200083481 | 1615 | A>T | No |
1000Genomes ExAC gnomAD |
|
|
rs2151206432 RCV001576969 |
1615 | A>V | No |
ClinVar Ensembl dbSNP |
|
| rs1219815903 | 1616 | A>P | No | TOPMed | |
| rs1268694978 | 1616 | A>V | No | TOPMed | |
| rs2040395678 | 1619 | K>E | No | Ensembl | |
|
COSM4704519 COSM4704520 rs1478359767 |
1619 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed gnomAD NCI-TCGA Cosmic |
| rs927811909 | 1624 | G>E | No | TOPMed | |
| rs530535158 | 1624 | G>R | No | gnomAD | |
| rs1276709633 | 1625 | D>A | No |
TOPMed gnomAD |
|
| rs2040394548 | 1625 | D>N | No | TOPMed | |
| rs2040394321 | 1626 | L>P | No | TOPMed | |
| rs780786328 | 1628 | D>E | No |
ExAC TOPMed gnomAD |
|
|
COSM701882 COSM701883 |
1628 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1407081723 | 1630 | E>G | No |
TOPMed gnomAD |
|
| rs1394409011 | 1632 | Q>E | No |
TOPMed gnomAD |
|
| rs763622421 | 1633 | A>G | No |
ExAC gnomAD |
|
| rs1400392287 | 1633 | A>T | No |
TOPMed gnomAD |
|
| rs376331652 | 1636 | A>T | No |
ESP ExAC gnomAD |
|
| rs2040392259 | 1637 | I>V | No | Ensembl | |
| rs773307101 | 1638 | K>M | No |
ExAC gnomAD |
|
| rs769970169 | 1638 | K>N | No |
ExAC gnomAD |
|
| rs773307101 | 1638 | K>R | No |
ExAC gnomAD |
|
|
RCV001766292 rs151337580 |
1639 | G>R | No |
ESP ExAC gnomAD ClinVar dbSNP |
|
| rs1252075795 | 1640 | R>K | No | gnomAD | |
| rs1359060930 | 1642 | E>A | No |
TOPMed gnomAD |
|
| rs369662031 | 1643 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2040390537 | 1644 | I>V | No | gnomAD | |
| TCGA novel | 1646 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1646 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs369409348 | 1648 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1283937185 | 1650 | L>M | No |
TOPMed gnomAD |
|
|
RCV001569813 rs1242915320 |
1650 | L>P | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1242915320 | 1650 | L>Q | No |
TOPMed gnomAD |
|
| rs767128780 | 1652 | A>S | No |
ExAC gnomAD |
|
| rs767128780 | 1652 | A>T | No |
ExAC gnomAD |
|
| rs1192375006 | 1653 | Q>E | No | gnomAD | |
| rs759396801 | 1654 | M>T | No |
ExAC gnomAD |
|
| rs2040364464 | 1656 | D>E | No | TOPMed | |
| rs751344814 | 1657 | F>L | No |
ExAC gnomAD |
|
| rs766356741 | 1658 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
COSM967405 rs762733113 COSM967404 |
1658 | Q>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs2151204759 | 1659 | R>T | No | Ensembl | |
| rs2151204753 | 1660 | E>A | No | Ensembl | |
| rs1170308208 | 1660 | E>Q | No | gnomAD | |
| rs1286560904 | 1661 | L>V | No |
TOPMed gnomAD |
|
| rs776805361 | 1662 | E>A | No |
ExAC gnomAD |
|
| rs1216201813 | 1662 | E>K | No | gnomAD | |
| rs538137003 | 1663 | D>G | No |
1000Genomes TOPMed |
|
| rs2040363563 | 1663 | D>N | No | TOPMed | |
|
rs2040362299 COSM4058565 COSM4058564 |
1666 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
|
COSM3794608 COSM3794607 rs1345711998 |
1667 | S>F | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
COSM3817281 COSM3817280 rs890481446 |
1668 | R>K | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs890481446 | 1668 | R>T | No |
TOPMed gnomAD |
|
| rs1241812623 | 1672 | F>S | No | Ensembl | |
|
COSM701885 COSM701884 |
1674 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774519463 | 1677 | E>A | No |
ExAC gnomAD |
|
| rs765569537 | 1677 | E>D | No | gnomAD | |
| rs1342104521 | 1677 | E>K | No | gnomAD | |
| rs1177693130 | 1679 | E>K | No | gnomAD | |
| rs777361412 | 1682 | A>G | No |
ExAC gnomAD |
|
| rs749715052 | 1682 | A>P | No |
ExAC gnomAD |
|
| rs1171305063 | 1683 | K>R | No | gnomAD | |
| rs1410534520 | 1684 | S>G | No |
TOPMed gnomAD |
|
| rs755664838 | 1684 | S>N | No |
ExAC gnomAD |
|
| rs751375975 | 1688 | D>E | No |
ExAC TOPMed gnomAD |
|
|
RCV000585475 rs1239423939 CA394851341 |
1688 | D>H | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs1338185802 | 1689 | L>V | No |
TOPMed gnomAD |
|
| rs2040357859 | 1690 | M>I | No | Ensembl | |
| rs1277876461 | 1690 | M>K | No |
TOPMed gnomAD |
|
| rs140956234 | 1691 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs1217430188 | 1691 | Q>K | No | gnomAD | |
| rs1596714014 | 1691 | Q>R | No | Ensembl | |
| rs2040357191 | 1693 | Q>* | No | TOPMed | |
| rs914070681 | 1694 | E>V | No | TOPMed | |
| rs2151203657 | 1696 | L>I | No | Ensembl | |
| rs779639232 | 1698 | A>G | No |
ExAC gnomAD |
|
| rs187172581 | 1698 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2151203607 | 1699 | A>G | No | Ensembl | |
| rs368731717 | 1700 | E>D | No |
ESP TOPMed gnomAD |
|
| rs757288297 | 1701 | R>G | No |
ExAC gnomAD |
|
| rs753777214 | 1701 | R>K | No |
ExAC gnomAD |
|
| rs755050373 | 1702 | A>S | No |
ExAC gnomAD |
|
| rs755050373 | 1702 | A>T | No |
ExAC gnomAD |
|
| rs1176791349 | 1702 | A>V | No | gnomAD | |
| rs201108170 | 1703 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1191616660 | 1705 | Q>K | No |
TOPMed gnomAD |
|
| rs533519322 | 1706 | A>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2040338156 | 1706 | A>T | No | Ensembl | |
| rs533519322 | 1706 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs762146153 | 1707 | D>E | No |
ExAC gnomAD |
|
| rs1353911032 | 1708 | L>F | No | gnomAD | |
| rs2040337321 | 1708 | L>H | No | Ensembl | |
| rs1314529435 | 1709 | E>D | No | gnomAD | |
| rs267604421 | 1711 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs775007509 | 1717 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs1156999108 | 1720 | S>N | No |
TOPMed gnomAD |
|
| rs551214569 | 1720 | S>R | No |
1000Genomes ExAC gnomAD |
|
| rs753293134 | 1725 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs1357397186 | 1728 | Q>H | No |
TOPMed gnomAD |
|
| rs2040286272 | 1728 | Q>L | No | TOPMed | |
| rs2040285641 | 1730 | E>D | No | Ensembl | |
| rs766136761 | 1730 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs762659627 | 1732 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1326687858 | 1733 | R>H | No | gnomAD | |
| rs962845895 | 1736 | A>D | No | Ensembl | |
|
rs951297859 COSM967400 COSM967401 |
1738 | I>F | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1201529499 | 1739 | A>D | No | gnomAD | |
| rs1201529499 | 1739 | A>V | No | gnomAD | |
| rs769680879 | 1742 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1255151226 | 1744 | E>Q | No |
TOPMed gnomAD |
|
| rs1438208747 | 1744 | E>V | No |
TOPMed gnomAD |
|
| rs745958601 | 1746 | E>G | No |
ExAC gnomAD |
|
| rs1239514656 | 1748 | E>K | No | gnomAD | |
| rs2040281657 | 1748 | E>G | No | TOPMed | |
| rs567806167 | 1749 | Q>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs567806167 | 1749 | Q>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1353357594 | 1749 | Q>P | No | gnomAD | |
| rs999924172 | 1752 | M>K | No |
TOPMed gnomAD |
|
| rs1432080651 | 1752 | M>L | No | TOPMed | |
|
COSM4058562 RCV000412848 COSM4058563 CA16042973 rs904032269 |
1754 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP gnomAD |
| rs1232834707 | 1755 | M>I | No |
TOPMed gnomAD |
|
| rs756538881 | 1755 | M>T | No |
ExAC gnomAD |
|
| rs768123738 | 1757 | D>A | No |
ExAC TOPMed gnomAD |
|
| rs752996609 | 1757 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs768123738 | 1757 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs142546324 | 1758 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs751148158 | 1758 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs138059405 | 1759 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1445320074 | 1760 | R>H | No |
TOPMed gnomAD |
|
| rs1051107286 | 1762 | A>V | No |
TOPMed gnomAD |
|
| rs981285361 | 1764 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
|
rs753482794 COSM4058560 COSM4058561 |
1766 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
COSM1678846 rs756955009 |
1766 | A>V | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1298031576 | 1770 | S>G | No |
TOPMed gnomAD |
|
|
COSM6078322 COSM6078321 |
1770 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1298031576 | 1770 | S>R | No |
TOPMed gnomAD |
|
| rs369969369 | 1772 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs369969369 | 1772 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1424202630 | 1774 | A>S | No | gnomAD | |
| rs2040212652 | 1775 | T>K | No | gnomAD | |
| rs1323596418 | 1775 | T>P | No | gnomAD | |
|
rs773366562 RCV001768028 |
1776 | E>D | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1441546016 COSM5122963 RCV001757295 |
1777 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM556923 COSM556922 |
1777 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4058558 COSM4058559 |
1780 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs375743675 | 1782 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1271608230 | 1783 | N>D | No |
TOPMed gnomAD |
|
|
COSM3402101 COSM3402102 |
1784 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1321829406 | 1784 | E>G | No |
TOPMed gnomAD |
|
| rs2040210986 | 1784 | E>Q | No | TOPMed | |
| rs772663756 | 1785 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs746310860 | 1785 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs759000207 | 1787 | R>P | No |
TOPMed gnomAD |
|
| rs142198104 | 1787 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs777456120 RCV002224667 |
1790 | L>F | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2040208172 | 1793 | Q>E | No |
TOPMed gnomAD |
|
| rs375230260 | 1793 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs1427020506 | 1794 | N>K | No | gnomAD | |
| rs2040207703 | 1795 | K>E | No | TOPMed | |
| rs776794802 | 1795 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs2040207437 | 1796 | E>Q | No | Ensembl | |
| rs2040206752 | 1799 | S>G | No | gnomAD | |
| rs776016983 | 1799 | S>I | No |
ExAC TOPMed gnomAD |
|
| rs1379238925 | 1800 | K>T | No | TOPMed | |
| rs1567687790 | 1801 | L>V | No | Ensembl | |
| rs1259582668 | 1802 | H>R | No |
TOPMed gnomAD |
|
| rs1314387438 | 1803 | E>Q | No |
TOPMed gnomAD |
|
| rs200026099 | 1804 | M>L | No |
1000Genomes ExAC gnomAD |
|
|
CA394848950 rs1085307503 RCV000489932 |
1804 | M>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs200026099 | 1804 | M>V | No |
1000Genomes ExAC gnomAD |
|
| rs1382954416 | 1805 | E>Q | No | gnomAD | |
| rs777194780 | 1807 | A>G | No |
ExAC gnomAD |
|
| rs985865728 | 1807 | A>S | No |
TOPMed gnomAD |
|
| rs985865728 | 1807 | A>T | No |
TOPMed gnomAD |
|
| TCGA novel | 1809 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751355793 | 1810 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs751355793 | 1810 | S>P | No |
ExAC TOPMed gnomAD |
|
|
COSM3506285 COSM3506284 |
1811 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1567687648 | 1812 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
|
COSM1286414 COSM1286415 |
1813 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1050162 | 1813 | K>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs760814164 | 1815 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs370077312 | 1817 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1321897124 | 1818 | A>S | No | gnomAD | |
| rs1326004706 | 1820 | E>* | No | gnomAD | |
| rs773689672 | 1821 | A>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1822 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1397844209 | 1822 | K>Q | No | gnomAD | |
| rs147710374 | 1824 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1596704264 | 1824 | A>V | No | Ensembl | |
| rs780770242 | 1825 | Q>E | No |
ExAC gnomAD |
|
| rs2040199537 | 1825 | Q>R | No | TOPMed | |
| rs768297365 | 1826 | L>R | No |
ExAC TOPMed gnomAD |
|
| rs1895647620 | 1827 | E>Q | No |
TOPMed gnomAD |
|
| rs1596704207 | 1828 | E>K | No | Ensembl | |
| TCGA novel | 1832 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2040197692 | 1832 | Q>R | No | TOPMed | |
| rs1567687391 | 1833 | E>A | No |
TOPMed gnomAD |
|
| rs1314408561 | 1835 | R>T | No | gnomAD | |
| rs954894296 | 1836 | E>D | No | Ensembl | |
| rs112948385 | 1839 | A>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2040061799 | 1841 | T>A | No | Ensembl | |
| rs1418908913 | 1841 | T>I | No | gnomAD | |
|
COSM6143418 COSM6143417 |
1843 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2040060957 | 1845 | K>M | No | Ensembl | |
| TCGA novel | 1847 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001559598 rs2151192751 |
1849 | K>E | No |
ClinVar Ensembl dbSNP |
|
|
COSM3887951 COSM3887952 |
1853 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs371591343 | 1854 | I>M | No | Ensembl | |
| rs1225099089 | 1855 | L>M | No |
TOPMed gnomAD |
|
|
RCV000182532 rs794728670 CA306604 |
1858 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1364929869 | 1859 | E>A | No | TOPMed | |
| rs1013472767 | 1859 | E>D | No | Ensembl | |
| rs1402672446 | 1859 | E>K | No | gnomAD | |
| rs896147583 | 1861 | E>G | No | Ensembl | |
| rs199514546 | 1863 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA |
| rs1428983692 | 1864 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2040057043 | 1864 | M>T | No | gnomAD | |
| rs2151192650 | 1864 | M>V | No | Ensembl | |
| rs1197566728 | 1865 | A>G | No | gnomAD | |
|
COSM1376072 rs1197566728 COSM1376071 |
1865 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs148743922 | 1866 | E>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs148743922 | 1866 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2151192258 | 1874 | K>T | No | Ensembl | |
| TCGA novel | 1875 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2040046191 | 1875 | G>R | No | Ensembl | |
|
COSM967398 rs1445234698 |
1877 | A>V | endometrium [Cosmic] | No |
cosmic curated gnomAD |
| rs772182716 | 1879 | V>A | No |
ExAC gnomAD |
|
| rs772182716 | 1879 | V>G | No |
ExAC gnomAD |
|
|
COSM1678844 rs2040044529 |
1880 | K>R | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
| rs779249687 | 1884 | R>K | No |
ExAC gnomAD |
|
| rs779249687 | 1884 | R>T | No |
ExAC gnomAD |
|
| rs2040043762 | 1888 | E>D | No | gnomAD | |
| rs749664566 | 1889 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs756666289 | 1891 | E>K | No |
ExAC gnomAD |
|
| rs753304573 | 1892 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs781754239 | 1892 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs762473731 | 1893 | S>F | No |
ExAC gnomAD |
|
| rs766060149 | 1893 | S>T | No |
ExAC TOPMed |
|
| rs764994966 | 1897 | N>H | No |
ExAC gnomAD |
|
| rs776619789 | 1897 | N>S | No |
ExAC gnomAD |
|
| rs776619789 | 1897 | N>T | No |
ExAC gnomAD |
|
| rs79129097 | 1899 | N>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1001859679 | 1900 | R>C | No |
TOPMed gnomAD |
|
| rs771212799 | 1900 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1016706023 | 1907 | L>V | No | Ensembl | |
| rs1178911566 | 1908 | D>A | No |
TOPMed gnomAD |
|
| rs773460470 | 1909 | E>K | No |
ExAC gnomAD |
|
| rs1030614126 | 1912 | E>Q | No |
TOPMed gnomAD |
|
| rs760586766 | 1913 | S>C | No |
TOPMed gnomAD |
|
| rs2040038086 | 1913 | S>T | No |
TOPMed gnomAD |
|
|
COSM1518108 rs146391904 |
1914 | N>K | lung [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs879215953 | 1915 | E>A | No | Ensembl | |
| rs779383281 | 1915 | E>D | No |
ExAC gnomAD |
|
| rs746561322 | 1915 | E>K | No |
ExAC TOPMed |
|
| rs757908421 | 1916 | A>D | No |
ExAC gnomAD |
|
| rs2040036994 | 1917 | M>T | No | TOPMed | |
| rs2040036846 | 1918 | G>S | No |
TOPMed gnomAD |
|
|
CA306691 rs750085824 RCV000182565 |
1919 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs750085824 COSM6143422 COSM1518110 COSM6143421 |
1919 | R>G | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1284202501 | 1919 | R>L | No |
TOPMed gnomAD |
|
|
RCV001767943 rs1290642611 |
1920 | E>V | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1347699926 | 1922 | N>H | No |
TOPMed gnomAD |
|
|
RCV000485735 rs571504063 CA16620073 |
1923 | A>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1431099810 | 1924 | L>I | No | gnomAD | |
| rs1264656948 | 1926 | S>G | No | gnomAD | |
| rs1187758442 | 1928 | L>F | No | gnomAD | |
| COSM6078323 | 1931 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs149529195 | 1932 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs746791674 | 1933 | E>D | No |
ExAC TOPMed gnomAD |
|
|
COSM4058556 RCV001757388 rs768566847 |
1933 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs758347098 | 1935 | S>Y | No |
ExAC gnomAD |
|
| rs145505544 | 1936 | F>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs756122406 | 1937 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2039324134 | 1938 | P>H | No | TOPMed | |
| rs1334252862 | 1939 | S>P | No |
TOPMed gnomAD |
|
| rs764375446 | 1941 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs2151160040 | 1942 | S>T | No | Ensembl | |
| rs1567668723 | 1943 | G>A | No | Ensembl | |
| rs766875173 | 1945 | R>H | No |
ExAC gnomAD |
|
| rs751862398 | 1945 | R>S | No |
ExAC TOPMed gnomAD |
|
|
RCV000733061 rs1258689018 |
1946 | R>missing | No |
ClinVar dbSNP |
|
| rs1277442569 | 1946 | R>G | No |
TOPMed gnomAD |
|
| TCGA novel | 1946 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773572276 | 1947 | V>L | No |
ExAC gnomAD |
|
|
rs2151159972 RCV001755661 |
1952 | D>H | No |
ClinVar Ensembl dbSNP |
|
| rs1258510512 | 1953 | G>D | No | TOPMed | |
| rs776407200 | 1953 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs776407200 | 1953 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1258510512 | 1953 | G>V | No | TOPMed | |
| rs1332460597 | 1956 | E>D | No | gnomAD | |
| rs1358904937 | 1956 | E>K | No |
TOPMed gnomAD |
|
|
rs2151159904 RCV002223547 |
1959 | D>missing | No |
ClinVar dbSNP |
|
| rs1448853511 | 1960 | T>I | No | gnomAD | |
| rs1448853511 | 1960 | T>N | No | gnomAD | |
|
COSM701886 rs772155686 |
1961 | R>G | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs745846240 | 1961 | R>Q | No |
ExAC gnomAD |
|
| rs112999816 | 1962 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1207603681 | 1962 | D>N | No | gnomAD | |
| rs1203781203 | 1963 | A>G | No | gnomAD | |
| rs781487785 | 1964 | D>H | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1964 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2039319517 | 1965 | F>L | No | TOPMed | |
| rs1317809527 | 1966 | N>T | No |
TOPMed gnomAD |
|
| rs1209834920 | 1968 | T>N | No | Ensembl | |
| rs2039319172 | 1970 | A>T | No | TOPMed | |
| rs1555546997 | 1971 | S>G | No | Ensembl | |
| rs914328780 | 1971 | S>N | No | gnomAD | |
| rs1282723230 | 1973 | E>E | No | gnomAD |
No associated diseases with P35749
No regional properties for P35749
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P35749 | |||
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| melanosome | A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. |
| muscle myosin complex | A filament of myosin found in a muscle cell of any type. |
| myosin filament | A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament. |
| myosin II complex | A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| microfilament motor activity | A motor activity that generates movement along a microfilament, driven by ATP hydrolysis. |
| structural constituent of muscle | The action of a molecule that contributes to the structural integrity of a muscle fiber. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| actomyosin structure organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments. |
| cardiac muscle cell development | The process whose specific outcome is the progression of a cardiac muscle cell over time, from its formation to the mature state. |
| elastic fiber assembly | Assembly of the extracellular matrix fibers that enables the matrix to recoil after transient stretching. |
| skeletal muscle myosin thick filament assembly | The aggregation, arrangement and bonding together of proteins to form the myosin-based thick filaments of myofibrils in skeletal muscle. |
| smooth muscle contraction | A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length. |
46 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BE40 | MYH1 | Myosin-1 | Bos taurus (Bovine) | SS |
| Q9BE41 | MYH2 | Myosin-2 | Bos taurus (Bovine) | SS |
| Q27991 | MYH10 | Myosin-10 | Bos taurus (Bovine) | SS |
| Q9BE39 | MYH7 | Myosin-7 | Bos taurus (Bovine) | SS |
| P14105 | MYH9 | Myosin-9 | Gallus gallus (Chicken) | SS |
| P02565 | MYH1B | Myosin-1B | Gallus gallus (Chicken) | SS |
| P13538 | Myosin heavy chain, skeletal muscle, adult | Gallus gallus (Chicken) | SS | |
| P10587 | MYH11 | Myosin-11 | Gallus gallus (Chicken) | SS |
| P05661 | Mhc | Myosin heavy chain, muscle | Drosophila melanogaster (Fruit fly) | SS |
| Q99323 | zip | Myosin heavy chain, non-muscle | Drosophila melanogaster (Fruit fly) | SS |
| P11055 | MYH3 | Myosin-3 | Homo sapiens (Human) | SS |
| Q9Y623 | MYH4 | Myosin-4 | Homo sapiens (Human) | SS |
| Q9UKX2 | MYH2 | Myosin-2 | Homo sapiens (Human) | SS |
| P13535 | MYH8 | Myosin-8 | Homo sapiens (Human) | SS |
| P12882 | MYH1 | Myosin-1 | Homo sapiens (Human) | SS |
| Q9UKX3 | MYH13 | Myosin-13 | Homo sapiens (Human) | SS |
| P12883 | MYH7 | Myosin-7 | Homo sapiens (Human) | EV |
| P13533 | MYH6 | Myosin-6 | Homo sapiens (Human) | SS |
| A7E2Y1 | MYH7B | Myosin-7B | Homo sapiens (Human) | SS |
| Q9Y2K3 | MYH15 | Myosin-15 | Homo sapiens (Human) | SS |
| P35580 | MYH10 | Myosin-10 | Homo sapiens (Human) | SS |
| P35579 | MYH9 | Myosin-9 | Homo sapiens (Human) | SS |
| Q7Z406 | MYH14 | Myosin-14 | Homo sapiens (Human) | SS |
| Q5SX39 | Myh4 | Myosin-4 | Mus musculus (Mouse) | SS |
| P13542 | Myh8 | Myosin-8 | Mus musculus (Mouse) | SS |
| Q02566 | Myh6 | Myosin-6 | Mus musculus (Mouse) | SS |
| A2AQP0 | Myh7b | Myosin-7B | Mus musculus (Mouse) | SS |
| Q91Z83 | Myh7 | Myosin-7 | Mus musculus (Mouse) | SS |
| P13541 | Myh3 | Myosin-3 | Mus musculus (Mouse) | SS |
| Q5SX40 | Myh1 | Myosin-1 | Mus musculus (Mouse) | SS |
| Q61879 | Myh10 | Myosin-10 | Mus musculus (Mouse) | SS |
| Q6URW6 | Myh14 | Myosin-14 | Mus musculus (Mouse) | SS |
| Q8VDD5 | Myh9 | Myosin-9 | Mus musculus (Mouse) | SS |
| O08638 | Myh11 | Myosin-11 | Mus musculus (Mouse) | SS |
| P79293 | MYH7 | Myosin-7 | Sus scrofa (Pig) | SS |
| Q9TV63 | MYH2 | Myosin-2 | Sus scrofa (Pig) | SS |
| P12847 | Myh3 | Myosin-3 | Rattus norvegicus (Rat) | SS |
| P02563 | Myh6 | Myosin-6 | Rattus norvegicus (Rat) | SS |
| P02564 | Myh7 | Myosin-7 | Rattus norvegicus (Rat) | SS |
| Q62812 | Myh9 | Myosin-9 | Rattus norvegicus (Rat) | SS |
| Q29RW1 | Myh4 | Myosin-4 | Rattus norvegicus (Rat) | SS |
| Q9JLT0 | Myh10 | Myosin-10 | Rattus norvegicus (Rat) | SS |
| P02566 | unc-54 | Myosin-4 | Caenorhabditis elegans | SS |
| P12844 | myo-3 | Myosin-3 | Caenorhabditis elegans | SS |
| P02567 | myo-1 | Myosin-1 | Caenorhabditis elegans | SS |
| P12845 | myo-2 | Myosin-2 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQKGQLSDD | EKFLFVDKNF | INSPVAQADW | AAKRLVWVPS | EKQGFEAASI | KEEKGDEVVV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ELVENGKKVT | VGKDDIQKMN | PPKFSKVEDM | AELTCLNEAS | VLHNLRERYF | SGLIYTYSGL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FCVVVNPYKH | LPIYSEKIVD | MYKGKKRHEM | PPHIYAIADT | AYRSMLQDRE | DQSILCTGES |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GAGKTENTKK | VIQYLAVVAS | SHKGKKDTSI | TGELEKQLLQ | ANPILEAFGN | AKTVKNDNSS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RFGKFIRINF | DVTGYIVGAN | IETYLLEKSR | AIRQARDERT | FHIFYYMIAG | AKEKMRSDLL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LEGFNNYTFL | SNGFVPIPAA | QDDEMFQETV | EAMAIMGFSE | EEQLSILKVV | SSVLQLGNIV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FKKERNTDQA | SMPDNTAAQK | VCHLMGINVT | DFTRSILTPR | IKVGRDVVQK | AQTKEQADFA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VEALAKATYE | RLFRWILTRV | NKALDKTHRQ | GASFLGILDI | AGFEIFEVNS | FEQLCINYTN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EKLQQLFNHT | MFILEQEEYQ | REGIEWNFID | FGLDLQPCIE | LIERPNNPPG | VLALLDEECW |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FPKATDKSFV | EKLCTEQGSH | PKFQKPKQLK | DKTEFSIIHY | AGKVDYNASA | WLTKNMDPLN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DNVTSLLNAS | SDKFVADLWK | DVDRIVGLDQ | MAKMTESSLP | SASKTKKGMF | RTVGQLYKEQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LGKLMTTLRN | TTPNFVRCII | PNHEKRSGKL | DAFLVLEQLR | CNGVLEGIRI | CRQGFPNRIV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FQEFRQRYEI | LAANAIPKGF | MDGKQACILM | IKALELDPNL | YRIGQSKIFF | RTGVLAHLEE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ERDLKITDVI | MAFQAMCRGY | LARKAFAKRQ | QQLTAMKVIQ | RNCAAYLKLR | NWQWWRLFTK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VKPLLQVTRQ | EEEMQAKEDE | LQKTKERQQK | AENELKELEQ | KHSQLTEEKN | LLQEQLQAET |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ELYAEAEEMR | VRLAAKKQEL | EEILHEMEAR | LEEEEDRGQQ | LQAERKKMAQ | QMLDLEEQLE |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| EEEAARQKLQ | LEKVTAEAKI | KKLEDEILVM | DDQNNKLSKE | RKLLEERISD | LTTNLAEEEE |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| KAKNLTKLKN | KHESMISELE | VRLKKEEKSR | QELEKLKRKL | EGDASDFHEQ | IADLQAQIAE |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LKMQLAKKEE | ELQAALARLD | DEIAQKNNAL | KKIRELEGHI | SDLQEDLDSE | RAARNKAEKQ |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| KRDLGEELEA | LKTELEDTLD | STATQQELRA | KREQEVTVLK | KALDEETRSH | EAQVQEMRQK |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| HAQAVEELTE | QLEQFKRAKA | NLDKNKQTLE | KENADLAGEL | RVLGQAKQEV | EHKKKKLEAQ |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| VQELQSKCSD | GERARAELND | KVHKLQNEVE | SVTGMLNEAE | GKAIKLAKDV | ASLSSQLQDT |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| QELLQEETRQ | KLNVSTKLRQ | LEEERNSLQD | QLDEEMEAKQ | NLERHISTLN | IQLSDSKKKL |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| QDFASTVEAL | EEGKKRFQKE | IENLTQQYEE | KAAAYDKLEK | TKNRLQQELD | DLVVDLDNQR |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| QLVSNLEKKQ | RKFDQLLAEE | KNISSKYADE | RDRAEAEARE | KETKALSLAR | ALEEALEAKE |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| ELERTNKMLK | AEMEDLVSSK | DDVGKNVHEL | EKSKRALETQ | MEEMKTQLEE | LEDELQATED |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| AKLRLEVNMQ | ALKGQFERDL | QARDEQNEEK | RRQLQRQLHE | YETELEDERK | QRALAAAAKK |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| KLEGDLKDLE | LQADSAIKGR | EEAIKQLRKL | QAQMKDFQRE | LEDARASRDE | IFATAKENEK |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| KAKSLEADLM | QLQEDLAAAE | RARKQADLEK | EELAEELASS | LSGRNALQDE | KRRLEARIAQ |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| LEEELEEEQG | NMEAMSDRVR | KATQQAEQLS | NELATERSTA | QKNESARQQL | ERQNKELRSK |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| LHEMEGAVKS | KFKSTIAALE | AKIAQLEEQV | EQEAREKQAA | TKSLKQKDKK | LKEILLQVED |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| ERKMAEQYKE | QAEKGNARVK | QLKRQLEEAE | EESQRINANR | RKLQRELDEA | TESNEAMGRE |
| 1930 | 1940 | 1950 | 1960 | 1970 | |
| VNALKSKLRR | GNETSFVPSR | RSGGRRVIEN | ADGSEEETDT | RDADFNGTKA | SE |