P13533
SS
Gene name |
MYH6 (MYHCA) |
Protein name |
Myosin-6 |
Names |
Myosin heavy chain 6 , Myosin heavy chain, cardiac muscle alpha isoform , MyHC-alpha |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4624 |
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 |
79-781 (Myosin head, motor domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Morck MM et al. (2022) "Hypertrophic cardiomyopathy mutations in the pliant and light chain-binding regions of the lever arm of human β-cardiac myosin have divergent effects on myosin function", eLife, 11,
Autoinhibited structure
Activated structure
1 structures for P13533
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P13533-F1 | Predicted | AlphaFoldDB |
1786 variants for P13533
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001309340 rs371667049 CA7116277 RCV002491332 RCV000618041 RCV001764736 |
3 | D>N | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA389032246 rs1270444359 RCV001046274 |
6 | M>T | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1891817183 RCV001235177 |
12 | A>missing | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000647050 CA7116276 rs562487638 |
12 | A>V | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000540828 rs1555335309 CA389032198 |
13 | A>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000494494 CA389032173 rs1131691313 RCV003224300 |
17 | R>C | Dilated cardiomyopathy 1EE [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001065645 rs1486297751 |
23 | R>missing | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001849967 RCV000143917 rs587782959 CA345828 RCV000494420 |
23 | R>C | Variant assessed as Somatic; 0.0003696 impact. Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003162939 RCV002499103 RCV000647076 CA7116274 rs771786844 RCV000770462 |
23 | R>H | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs573489857 RCV001589005 RCV000869501 CA176981 RCV001170479 RCV000620325 RCV000151229 |
24 | L>I | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002505756 RCV003163385 RCV001294383 RCV001174568 CA389032127 rs1320990570 |
24 | L>P | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs559973480 RCV000463202 RCV002411448 CA7116272 |
26 | A>G | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002375183 rs150574114 RCV001215233 |
29 | R>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000246156 RCV001723713 CA176975 RCV000151227 rs150574114 RCV000770461 RCV000757526 |
29 | R>Q | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7116265 RCV001772102 RCV000813352 RCV002440770 rs765792077 |
34 | R>C | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000552949 CA7116264 rs762303505 RCV001811057 |
34 | R>H | Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP |
|
RCV002354432 rs142850511 RCV000172038 CA237379 RCV000765155 RCV001089357 |
39 | V>M | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA237376 rs201161721 RCV000172037 RCV001365230 |
41 | D>N | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP |
|
CA176972 RCV000995139 RCV002498699 RCV000151226 rs727503239 RCV002390325 RCV001321909 RCV000208506 |
54 | R>Q | Variant assessed as Somatic; 0.0 impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs28711516 VAR_063550 RCV001511451 CA134248 RCV000420685 RCV000250931 RCV000037445 |
56 | G>R | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA346474 RCV001850184 RCV002498778 RCV000157335 rs730880148 |
61 | A>V | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1891810495 RCV001241035 |
62 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002484080 RCV001201962 CA7116252 rs750818212 RCV002411736 RCV002269343 |
64 | E>K | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002479384 RCV001065382 rs751285148 CA7116227 RCV002418539 RCV003153926 |
68 | T>M | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000473096 rs1060501429 |
71 | V>missing | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769686237 RCV000268671 RCV002487385 RCV000383513 CA7116223 RCV000328446 RCV000685753 RCV001753772 |
71 | V>A | Hypertrophic cardiomyopathy Atrial septal defect Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000647051 rs977234074 RCV002449056 CA257799250 RCV002477434 |
76 | V>M | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs772216708 CA7116220 RCV002483680 RCV000600539 RCV002448846 RCV002291678 |
78 | Q>R | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs529427223 RCV000151225 CA176969 RCV001041444 RCV002453489 |
82 | P>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001796385 CA257799212 RCV001205374 rs1021271475 |
87 | I>F | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1289213430 CA389031698 RCV001234752 |
89 | D>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000527362 RCV002530060 CA257799198 rs919307122 |
90 | M>T | Inborn genetic diseases Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7116217 RCV002456447 RCV001323339 rs778199745 RCV002486292 RCV002223300 |
90 | M>V | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000037465 RCV000770460 RCV000252583 RCV002470732 RCV000467043 CA134302 RCV000765154 RCV001256736 rs140596256 RCV000761867 |
98 | E>K | Cardiomyopathy Atrial septal defect 3 Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA134316 rs397516760 RCV001852775 RCV000037471 |
110 | A>T | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7116207 RCV001047864 RCV002320272 rs149454728 RCV003132171 |
110 | A>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555335108 RCV000647056 CA389031152 |
127 | P>A | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2046697143 RCV001065030 |
132 | P>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000172036 rs776853139 RCV001327220 CA237373 RCV002326946 |
141 | A>T | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001751458 RCV001233069 CA7116168 RCV002484275 rs2277473 |
143 | R>W | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000532286 CA389030907 rs1555335081 RCV002330925 |
146 | K>R | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs879175179 CA257798672 RCV001204583 |
150 | A>G | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
TCGA novel rs1595064466 RCV000813943 CA389030852 |
151 | P>S | Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV000483587 RCV002475952 RCV000647074 rs754736798 CA7116158 |
161 | A>T | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002496593 CA134437 rs397516772 RCV000037518 RCV000459581 |
162 | Y>C | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001865800 RCV002486336 rs972242173 RCV001334052 CA257798621 RCV002341684 RCV002224065 |
165 | M>L | Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1891729151 RCV001528495 RCV001212937 RCV002480701 RCV002348704 |
190 | R>H | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891728161 RCV001170250 |
201 | I>V | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002477585 CA7116102 rs756369181 RCV000696586 |
204 | R>C | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002357027 rs200623022 RCV001240381 CA7116101 |
204 | R>H | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001083054 CA134488 RCV000845323 RCV000852698 RCV000618320 rs142027794 RCV000770456 RCV000037537 |
208 | D>N | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000624414 RCV000621731 CA7116098 RCV000701024 rs780456381 |
212 | A>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000151223 CA176965 RCV000793999 RCV000253650 rs201828188 |
227 | A>T | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA345831 RCV002515936 rs587782960 RCV000143918 RCV002483275 |
232 | G>S | Primary familial hypertrophic cardiomyopathy Inborn genetic diseases Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1566515919 CA389028969 RCV000691105 |
236 | T>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002291697 CA7116060 rs576154116 RCV000795106 |
238 | R>W | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs759116118 RCV002489660 CA7116055 RCV001060199 |
244 | R>C | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs759116118 RCV001295652 |
244 | R>G | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000172035 RCV002381560 RCV001223813 CA237370 rs200645920 |
244 | R>H | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389028862 rs1263987728 RCV000624469 |
245 | F>L | Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs750341311 RCV000647046 RCV002223896 CA7116035 |
252 | H>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1332026608 RCV001322133 |
260 | A>P | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002426562 RCV000037541 CA134496 RCV001572348 rs201327273 RCV000989184 VAR_063551 RCV000624229 RCV000171837 |
275 | I>N | Primary dilated cardiomyopathy Primary familial dilated cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA181127 RCV001256735 RCV000999591 RCV001083211 RCV000769431 RCV000154662 RCV000172034 RCV002408687 rs140660481 |
277 | Q>H | Brugada syndrome Cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000995136 RCV001869387 CA389028228 rs1566515400 |
286 | I>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002478888 CA7116000 rs186265521 RCV001560587 RCV000812551 RCV001332139 |
288 | Y>* | Atrial septal defect 3 Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs374692396 RCV002223770 RCV003162325 RCV002482991 RCV001852779 CA134502 RCV000037543 |
310 | D>N | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000296450 CA7115965 RCV000350031 RCV000404777 rs748143404 RCV002446567 RCV000690464 RCV001764281 |
312 | A>T | Hypertrophic cardiomyopathy Atrial septal defect Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002369824 rs367952105 CA7115962 RCV000686211 |
314 | V>A | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA389027086 RCV001048422 rs1260228019 |
314 | V>M | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001059224 rs1891645604 |
318 | E>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000539441 CA7115950 RCV002390582 rs371859345 RCV000217101 RCV002293427 |
334 | D>E | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001300591 rs138572790 CA7115919 |
336 | A>D | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002504080 RCV000620439 RCV001529961 CA7115918 RCV002288969 RCV000769428 rs138572790 RCV000477183 |
336 | A>G | Cardiomyopathy Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs561344265 RCV002388275 CA257795122 RCV000697065 |
345 | E>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
rs1595062727 CA389026389 RCV000817051 |
346 | E>G | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001055339 RCV000208088 RCV002399770 rs200260629 CA353901 |
350 | V>I | Long QT syndrome Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7115909 rs781278134 RCV001041060 |
358 | M>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA348826 rs202196487 RCV000204610 RCV002426968 |
363 | M>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002431925 CA7115904 RCV003147614 RCV001324441 RCV003147612 RCV003147613 rs150272218 |
363 | M>T | MYH6-related cardiac defects Atrial septal defect 3 Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA389025921 RCV001231219 rs1595062683 |
365 | F>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA257795029 RCV001773627 RCV001314435 rs141083503 |
370 | R>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA7115903 RCV000615081 rs753444140 RCV000845387 RCV000485434 RCV001300484 |
370 | R>W | Primary familial dilated cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002436993 RCV001871633 RCV001281437 rs1891633873 |
374 | A>S | Brugada syndrome Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000619634 CA134227 RCV000037438 RCV000769425 rs61742472 RCV000529079 |
377 | D>E | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000464311 RCV001293167 RCV000241733 CA181340 rs148962966 RCV000154766 RCV001293155 RCV001697081 RCV001170246 |
378 | G>S | Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs747070258 CA7115895 RCV000786164 RCV000619609 RCV001068293 |
380 | E>A | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7115897 rs768924353 RCV002497791 RCV001231664 |
380 | E>K | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000868102 rs778319108 RCV000213817 CA7115865 RCV000620614 |
385 | S>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000807282 CA351909 RCV000208275 rs869025472 |
391 | L>M | Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7115859 RCV001856814 RCV000483690 rs199877580 RCV002341124 |
393 | S>A | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002489551 RCV002327257 CA7115858 RCV001038092 CA257793889 rs201822160 RCV001759731 |
395 | D>E | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen 1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA389024292 RCV000553974 rs1271657601 RCV002497162 RCV002358550 |
404 | R>W | Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1566513991 CA389024163 RCV000693738 |
413 | T>I | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7115852 RCV000229391 RCV000765153 RCV002392693 rs759520932 |
415 | G>A | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002379488 RCV001037707 RCV003155340 CA7115853 rs576432451 |
415 | G>R | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000547024 rs543839082 CA389024099 |
417 | S>R | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001088230 RCV000172033 CA134230 rs147606900 RCV000254507 RCV000852697 RCV000037439 |
418 | V>M | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001041086 rs1891577982 |
429 | A>D | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389023883 RCV001751588 rs1286482909 RCV001308020 |
431 | A>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs375729555 RCV000472267 RCV002223846 CA16614379 |
439 | W>* | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV002489614 rs757040426 CA7115840 RCV001050477 |
442 | T>M | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs182373896 RCV000226928 CA7115838 RCV002378987 |
443 | R>C | Variant assessed as Somatic; 4.619e-05 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs202096001 CA237367 RCV002381559 RCV002470787 RCV000172032 |
443 | R>H | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7115836 RCV002494569 RCV000248354 RCV001320565 rs556536964 RCV000217535 |
446 | A>T | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002381744 rs142059069 RCV001565787 RCV001853462 RCV000221158 CA7115834 |
449 | E>D | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002383957 RCV000647071 rs774807696 RCV002489218 CA7115828 RCV000497477 |
458 | I>T | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1891574474 RCV001037450 |
459 | G>missing | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000852452 CA389023343 rs778808038 |
467 | E>* | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7115822 RCV002500942 RCV000247254 rs777651128 RCV000795968 |
470 | D>N | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7115823 RCV000808673 RCV002390620 rs777651128 |
470 | D>Y | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001063262 rs1891562205 |
484 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000647053 rs1555334566 CA389022934 |
485 | K>M | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001334047 rs1891561643 |
494 | M>I | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001351955 RCV002395781 rs761085263 CA7115797 |
496 | V>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7115796 RCV002391043 rs761085263 RCV001799018 RCV000983925 |
496 | V>M | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000795985 rs1315813996 CA389022737 RCV002388437 |
497 | L>M | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA7115794 RCV000701976 rs372073959 RCV002388315 |
500 | E>D | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001216474 rs1891560310 |
505 | E>A | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142410102 RCV000765152 RCV000498773 RCV002395207 CA7115788 RCV000559203 RCV002244963 |
507 | I>M | Sick sinus syndrome 3, susceptibility to Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7115789 RCV000242027 RCV001764239 rs188023690 RCV002479987 |
507 | I>T | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1017557276 RCV001323314 CA257793315 RCV002499631 |
508 | E>V | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
TCGA novel rs1891559690 RCV001036525 |
510 | T>A | Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA389022447 rs1319467982 RCV000794962 RCV002397586 |
511 | F>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000037444 rs397516756 RCV002504892 RCV002223179 CA134245 |
512 | I>T | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389022320 RCV000678716 rs757410478 |
517 | D>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000647062 rs1555334545 |
521 | C>missing | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7115778 rs753062079 RCV001334048 RCV002224064 |
526 | E>D | Atrial septal defect 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001314487 rs1891517653 |
536 | E>G | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000647039 CA389021027 rs1555334436 |
539 | C>* | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001315369 rs750051592 |
539 | C>F | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750051592 RCV001305079 CA7115736 |
539 | C>Y | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs367663906 RCV002485391 RCV000766770 RCV000215596 CA7115735 RCV001853463 RCV002399790 |
543 | K>R | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1566513145 CA389020909 RCV000685381 |
547 | M>I | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346477 RCV000157336 rs730880149 |
555 | D>N | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs149650190 RCV000845511 RCV000154763 RCV002399544 CA181333 RCV000460717 |
568 | R>C | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7115725 rs376291577 RCV001002569 RCV002406876 RCV000819323 |
568 | R>H | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002507372 rs1488705293 RCV003117585 RCV002406746 RCV000796053 CA389020476 |
576 | A>T | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs138317414 CA7115719 RCV000815065 RCV003166341 |
584 | A>T | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000037446 RCV000766505 RCV000689618 RCV003149587 RCV000250070 rs150415679 RCV001334049 RCV001256810 RCV002490421 CA134251 |
585 | G>S | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Atrial septal defect 3 Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000249428 RCV000172566 CA176961 RCV001798462 RCV002408642 RCV000151221 rs142992009 RCV000143919 RCV000989183 |
588 | D>A | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Inborn genetic diseases Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA389020180 RCV002397264 rs1402004251 RCV000647075 |
591 | I>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002484144 CA389020080 rs1252826013 RCV002464411 RCV001210729 |
597 | K>N | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs774500922 RCV000824451 RCV002507447 |
598 | N>missing | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236793 rs760815285 CA7115707 |
602 | L>P | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001047328 rs1203125451 CA389019983 |
604 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001048409 rs1891508709 |
607 | V>M | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000292906 RCV000389600 RCV003165840 RCV000350192 rs886050409 CA10634736 |
608 | A>T | Hypertrophic cardiomyopathy Atrial septal defect Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003142175 RCV001221466 rs1891507309 |
614 | S>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796433 RCV002507376 rs764362016 CA7115693 |
623 | S>F | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002413582 rs1183656896 RCV000559982 |
624 | S>missing | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002407930 CA7115687 rs180904654 RCV003100917 |
629 | D>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001856188 RCV002406711 RCV000780517 rs1566512077 CA389019769 |
635 | K>E | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000471162 rs1060501430 CA16614476 |
638 | G>A | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201219066 CA257791216 RCV001059598 |
653 | H>P | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs369938365 RCV000999617 RCV000520542 RCV002420313 RCV001857975 CA7115653 |
654 | R>W | Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000821545 RCV002415934 CA389019372 rs1351249262 |
668 | H>Y | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1891424644 RCV001352083 |
675 | I>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000128628 rs515726230 CA163406 |
678 | N>S | Heart, malformation of [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7115624 RCV002422596 RCV000704826 rs551746815 |
680 | R>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1280689085 RCV001316962 CA389019078 |
686 | M>I | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002481416 CA7115598 RCV002418370 rs748016197 RCV000476544 |
689 | P>T | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001880082 RCV001264423 RCV002418867 rs779614256 |
690 | L>missing | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000619683 rs148915045 RCV000457574 RCV001701688 RCV000151220 RCV000769419 CA176958 |
691 | V>I | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001723799 RCV000219216 RCV002470822 RCV002415902 rs778886029 CA7115593 |
696 | R>C | Variant assessed as Somatic; 0.0 impact. Atrial septal defect 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7115592 rs757728653 RCV001319223 RCV002418963 RCV002546065 |
696 | R>H | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001256809 rs1891418103 |
697 | C>* | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002418683 rs767142932 RCV001205427 CA7115589 RCV002223284 |
700 | V>M | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001764389 rs767124357 CA7115588 RCV000458024 |
705 | R>C | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7115580 RCV002429265 RCV000494176 rs776602843 RCV000816987 |
714 | R>H | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001060306 rs772374378 |
715 | I>F | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7115577 RCV000624258 rs770907731 |
721 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs387906656 RCV001203574 RCV000022669 VAR_065561 CA128654 RCV003129755 |
721 | R>W | Sick sinus syndrome 3, susceptibility to (sss3) Sick sinus syndrome 3, susceptibility to Hypertrophic cardiomyopathy 14 SSS3; rare variant predisposing to sick sinus syndrome [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA7115555 rs748667312 RCV001042455 |
725 | R>C | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA257789576 rs781467923 RCV000647047 |
725 | R>H | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000813515 rs763963623 RCV002422808 CA7115550 RCV002487777 |
730 | V>A | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000172565 RCV002054035 rs201411075 CA238410 |
736 | Q>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002442761 RCV000822022 CA7115541 RCV002487848 rs369729808 |
753 | I>T | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001050331 rs1891407295 |
753 | I>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1486610243 RCV002453789 RCV000804587 CA389016360 |
779 | R>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001089006 RCV000786370 CA7115495 RCV002442514 rs543524943 |
785 | R>C | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7115494 RCV002446799 RCV000468612 rs769341738 |
785 | R>H | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746758304 CA7115490 RCV001913899 |
788 | T>M | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200925880 RCV002458105 RCV000647043 RCV003133442 CA7115488 |
789 | R>C | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs534878047 RCV002456474 RCV001339233 RCV001699533 CA7115487 |
789 | R>H | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002453263 RCV003125831 CA123764 VAR_031882 RCV002504791 RCV000015210 rs267606907 |
795 | R>Q | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 CMH14; late onset [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA7115483 RCV000619459 RCV002298661 RCV000769418 RCV002483461 RCV000548551 rs202120238 RCV001591250 |
795 | R>W | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001211399 rs199993769 RCV002447077 CA7115482 |
799 | M>I | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs763477425 RCV001879598 CA7115480 RCV002449518 |
800 | R>C | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001246827 rs535438755 RCV002447222 RCV002260693 CA7115479 RCV002499425 |
800 | R>H | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001047006 RCV001357321 CA7115478 RCV002429619 rs75487328 |
801 | I>F | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001256734 RCV000618074 CA134273 RCV000037454 RCV001365449 rs75487328 |
801 | I>V | Dilated cardiomyopathy 1A Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7115474 RCV000557393 RCV003156255 RCV002448739 rs780036697 |
809 | R>H | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000458837 RCV002496757 CA16614077 rs1060501428 |
810 | R>G | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA7115450 RCV000538124 RCV000621625 rs150675144 RCV002494980 RCV002261044 |
814 | L>M | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA123766 rs267606903 RCV000015211 VAR_031883 |
820 | I>N | Atrial septal defect 3 (asd3) Atrial septal defect 3 ASD3 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000622553 rs1555334047 |
821 | R>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000155804 rs138419275 RCV000647085 CA183535 |
822 | A>T | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000550460 CA389014649 rs1555334043 |
829 | W>* | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000015213 CA257138 VAR_063552 rs267606906 |
830 | P>L | Dilated cardiomyopathy 1EE CMD1EE [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1314476937 CA389014572 RCV000845487 |
834 | L>F | Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346480 RCV000157337 rs730880150 |
846 | E>D | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001305109 CA7115440 rs759408374 RCV002429264 |
847 | T>M | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000647059 RCV002223201 rs776971183 RCV002479981 RCV000242210 CA7115436 |
852 | A>T | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7115431 RCV000647042 RCV002458104 RCV000765151 rs779528748 |
859 | G>A | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000499003 RCV002455959 CA7115432 rs369274077 RCV001798862 RCV000647060 |
859 | G>R | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002453597 CA237363 RCV000208528 RCV001170243 RCV000172030 rs369274077 RCV002492720 RCV001364234 |
859 | G>W | Cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000786371 RCV000538883 RCV002483462 rs1025146248 RCV000618044 CA257787455 |
860 | R>C | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA134283 RCV000845565 RCV000770454 RCV000037458 RCV001082478 RCV000242007 rs115845031 |
860 | R>H | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7115430 RCV001236794 rs754237178 |
862 | K>R | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA389014167 RCV001256738 CA7115429 rs763692915 |
863 | E>D | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000208173 CA238407 RCV000821750 RCV002433759 rs200153625 RCV000172564 |
864 | T>M | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7115425 rs774144472 RCV001242410 RCV002430029 RCV002484330 |
869 | E>K | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389014065 rs1475742505 RCV001219338 |
870 | A>S | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000770453 RCV000618162 RCV000765150 RCV000551495 RCV000656919 RCV000037460 rs376682837 CA134289 |
871 | R>C | Cardiomyopathy Variant assessed as Somatic; 4.621e-05 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000208367 RCV002503821 RCV000770452 CA351986 rs869025473 RCV002426978 RCV001069449 |
871 | R>H | Cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 Ventricular fibrillation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000462013 RCV001170242 RCV002433502 CA134292 RCV001568077 RCV001293069 RCV000037461 rs201193346 |
872 | R>C | Cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001555762 RCV003147536 RCV003147537 RCV003147535 rs773162706 CA7115424 RCV000696939 RCV003163209 |
872 | R>H | MYH6-related cardiac defects Atrial septal defect 3 Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001302626 rs1891322319 |
885 | E>missing | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795939 RCV002495043 CA7115383 rs143928061 RCV002440641 |
906 | R>C | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002436831 rs527636904 RCV001217168 CA7115382 |
906 | R>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001057219 CA7115380 RCV001584446 rs758061689 RCV000619614 |
908 | D>N | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA389013202 RCV000705974 rs1566510145 |
909 | Q>K | Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000807107 rs138213182 RCV002440726 CA7115378 |
913 | N>S | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002436618 CA7115376 rs746669440 RCV001055514 |
924 | M>T | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001220824 rs1891312617 |
927 | R>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389012714 rs1555333987 RCV000539980 |
929 | E>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000227773 RCV000770450 RCV000037462 RCV001723616 CA134295 rs141704264 |
936 | A>S | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002436769 RCV001726448 CA7115372 rs199838024 RCV001196001 RCV001701304 |
936 | A>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002506356 CA7115368 RCV000768514 RCV000555711 rs368912844 RCV002438451 RCV001770460 |
943 | R>C | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002440597 RCV001204142 rs766640013 CA7115367 RCV000770449 |
943 | R>H | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7115365 RCV001066338 rs538791600 |
948 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000853576 CA389011997 rs1595056419 |
960 | E>K | Atrial septal defect 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000461438 RCV000618195 RCV001719743 RCV000037463 rs144907522 CA134298 RCV002477092 |
964 | A>S | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs771879878 CA7115359 RCV001327733 |
965 | K>T | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001202923 rs1891307559 |
972 | A>E | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7115341 rs141079114 RCV000539639 |
977 | V>M | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000852451 rs1369680809 RCV001858507 RCV001766767 CA389011318 |
986 | G>E | Arrhythmogenic right ventricular cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs369774403 RCV002223243 RCV000704899 CA7115336 RCV002440533 |
989 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs766362714 RCV000619804 CA257786769 RCV000689996 |
990 | I>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs727503238 RCV000706239 RCV000151219 RCV002498698 CA176955 |
994 | L>M | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7115331 RCV001194287 RCV002436766 RCV002480643 rs753891816 RCV001220071 RCV001598683 |
995 | T>S | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000623034 CA134311 RCV000770446 RCV000201499 VAR_063553 RCV000244450 RCV000656144 RCV000723680 RCV000852696 RCV000037468 RCV000172563 RCV000190123 RCV000015214 rs143978652 |
1004 | A>S | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Primary dilated cardiomyopathy Dilated cardiomyopathy 1EE Wolff-Parkinson-White pattern Hypertrophic cardiomyopathy 14 CMD1EE [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001039168 rs1555333948 RCV000621303 CA389010532 |
1017 | D>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595056123 RCV000800925 CA389010474 |
1019 | V>F | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs371209775 RCV002319555 RCV000691935 CA7115319 |
1025 | S>T | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002325369 rs779155360 CA7115317 RCV000689058 |
1030 | E>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs756244326 RCV003166072 RCV002493429 RCV002535698 CA7115296 RCV000781631 |
1042 | Q>K | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000821637 CA389009749 rs1049328399 |
1043 | E>D | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000647044 CA389009766 rs560776256 |
1043 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA352072 RCV000208480 rs869025474 |
1045 | K>E | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs758449996 RCV002325188 CA257786430 RCV002483742 RCV000624772 |
1045 | K>N | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001868135 CA7115293 RCV002223887 RCV000619722 rs755565288 |
1047 | R>C | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001223421 rs775843647 RCV001092191 CA7115292 RCV002487160 RCV000242097 |
1047 | R>H | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001067621 rs1184334975 RCV002320339 CA389009636 |
1048 | M>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001170241 RCV000617468 RCV002289906 CA7115290 rs532606047 RCV001055152 |
1052 | R>* | Cardiomyopathy Sick sinus syndrome 3, susceptibility to Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002525239 rs750020902 CA7115289 RCV000519643 |
1052 | R>Q | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001844125 rs540893860 RCV000647086 CA7115287 |
1055 | R>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000688600 CA7115288 RCV001584561 rs764909774 |
1055 | R>W | Variant assessed as Somatic; 4.62e-05 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA389009395 RCV000821256 rs1595055803 |
1059 | G>S | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002320244 CA7115283 rs775560235 RCV001170240 RCV001039248 |
1060 | D>N | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000201905 rs863225269 |
1065 | Q>missing | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000414926 RCV000171836 CA123768 RCV000037469 RCV000015212 RCV002321482 VAR_063554 RCV000845359 rs267606904 |
1065 | Q>H | Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 14 CMH14 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000037470 RCV002321509 CA134313 rs145508517 RCV001088527 RCV000172562 |
1067 | S>G | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002444641 RCV000155803 CA183532 RCV001309719 RCV000497746 RCV002498758 rs375169402 |
1074 | D>N | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000658226 RCV002323703 rs377716628 CA7115275 RCV001334050 RCV001088575 |
1077 | Q>L | Atrial septal defect 3 Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA389007558 rs1158303073 RCV001213411 |
1081 | K>E | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA7115234 RCV001314899 RCV002486233 RCV002322221 rs762901493 RCV001564841 |
1096 | I>T | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA134322 RCV000037473 RCV001668160 VAR_030205 RCV001513926 RCV000244685 rs365990 |
1101 | V>A | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002481856 CA389007117 RCV002454267 rs1595055372 RCV001036526 |
1106 | L>I | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs372446459 RCV002489492 CA7115207 RCV002320208 RCV000995130 |
1116 | R>C | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001084669 rs369247906 CA7115206 RCV000443494 RCV000251514 RCV000623582 |
1116 | R>H | Variant assessed as Somatic; 0.0 impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000545287 RCV002500448 rs372446459 RCV000172029 RCV002321684 CA237360 |
1116 | R>S | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000658292 RCV002477094 RCV001798114 RCV000622618 rs376002621 RCV000226348 RCV000037475 CA134328 |
1128 | R>H | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Left ventricular noncompaction Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1398805546 CA389006603 RCV001339333 |
1129 | T>A | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs28730771 RCV000770442 RCV001517097 RCV000037476 RCV000252089 RCV001642560 VAR_063555 CA134331 |
1130 | A>T | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002456181 RCV002491072 RCV000678718 rs745801044 CA7115191 RCV000557538 |
1138 | R>H | Left ventricular noncompaction Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001355795 RCV001798705 RCV000620062 rs543585784 CA7115184 RCV000214617 RCV001853464 |
1143 | R>Q | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA7115180 rs564367705 RCV000605334 RCV002062143 RCV002456319 RCV001170239 |
1149 | S>R | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001054318 CA237357 rs760399050 RCV000172028 RCV002453596 |
1150 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7115175 rs745406670 RCV000529198 |
1151 | R>Q | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs755974106 RCV000424194 CA7115170 RCV000802894 |
1157 | G>R | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7115168 RCV003159875 rs780305056 RCV002483463 RCV002259350 RCV000547212 RCV000768515 |
1159 | T>M | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs750502101 RCV001229262 CA7115166 |
1160 | S>Y | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002487384 CA7115165 RCV001859875 rs762230455 RCV000413094 |
1161 | V>M | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000151217 rs727503236 RCV000477774 RCV000860938 RCV001561277 RCV000617980 RCV001171186 CA176949 |
1170 | E>K | Cardiomyopathy Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000477255 CA7115155 rs769554911 |
1176 | M>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs747978305 RCV001238571 |
1177 | R>G | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780211563 RCV000797309 CA7115153 |
1177 | R>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs747978305 CA7115154 RCV000647037 |
1177 | R>W | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000242139 CA7115151 rs886039180 RCV001325191 |
1178 | R>W | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000647054 CA257784108 rs1033416176 |
1181 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000700371 RCV002499253 CA389006057 rs1033416176 |
1181 | E>Q | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs759117852 RCV000770440 RCV003105865 CA7115141 RCV002450866 |
1190 | T>I | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7115138 RCV002503905 RCV001786348 RCV002450686 rs765797952 RCV000232195 |
1192 | A>V | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002451244 CA257784040 RCV001058786 RCV002489655 rs1038940910 |
1193 | A>V | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001702000 CA7115135 RCV002450865 RCV001293070 rs769756450 |
1195 | R>C | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002341165 rs747891865 RCV000493710 RCV001242332 RCV002496894 CA7115134 |
1195 | R>H | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001539628 CA7115136 RCV001066460 rs769756450 RCV002339331 |
1195 | R>S | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002451098 RCV001595007 CA7115128 RCV000607798 rs372794975 RCV002489034 RCV000473507 |
1200 | D>H | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002451189 CA7115129 rs372794975 RCV001047551 |
1200 | D>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001089300 rs368451573 RCV000765149 RCV000295361 RCV000506811 RCV002450864 RCV000373519 RCV000335256 CA7115127 |
1202 | V>M | Hypertrophic cardiomyopathy Atrial septal defect Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1114167343 RCV001225962 RCV001564854 RCV000491541 |
1203 | A>missing | Hypertrophic cardiomyopathy 14 Arrhythmogenic right ventricular dysplasia 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000243115 rs751153777 RCV002265714 RCV002500954 CA7115123 RCV000647045 |
1204 | E>D | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002490508 RCV000037481 CA134344 RCV001753447 RCV000618370 RCV000822261 rs397516762 |
1207 | E>K | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7115118 RCV000818012 rs776607405 |
1209 | I>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001202230 rs1180345753 CA389005502 RCV002348653 |
1220 | E>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001304896 RCV002451687 rs1342875025 CA389005395 |
1224 | S>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002345467 rs201051663 CA176946 RCV000766423 RCV000151216 RCV002505149 |
1253 | T>M | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1595053286 CA389003832 RCV000807031 |
1255 | E>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000536730 RCV002483464 CA257783496 RCV003159876 RCV001251278 rs544358806 RCV002350319 |
1262 | R>H | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002347826 rs375819633 RCV000704700 RCV000222113 CA7115072 |
1263 | V>M | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7115069 rs777331087 RCV000618461 RCV001060970 |
1268 | A>T | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000618846 RCV000456435 CA7115066 rs371849826 RCV002489032 RCV001584147 |
1270 | R>C | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000549085 rs1383779893 CA389003447 |
1273 | N>S | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs762102758 RCV000525254 RCV002476177 CA7115061 RCV002358551 |
1280 | A>T | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA389003304 RCV000769412 RCV002360877 rs1425090608 |
1282 | L>V | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs375655864 CA7115057 RCV000647077 |
1285 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000811499 RCV001089625 rs138127105 RCV000769411 RCV001193051 CA7115030 RCV002360876 |
1289 | L>F | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7115029 rs780178869 RCV001214429 RCV002365823 |
1291 | R>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000037485 CA134354 RCV000852695 RCV000172561 VAR_063556 rs34935550 RCV000253033 RCV001086651 RCV000769410 |
1295 | E>Q | Cardiomyopathy Restrictive cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002362841 RCV001545949 RCV000463802 rs368588052 CA346483 RCV000157338 RCV002492608 |
1298 | A>V | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002497299 RCV001858808 rs767570086 CA7115025 |
1301 | S>L | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002325278 RCV000647065 rs776486154 CA7115016 RCV002483868 |
1308 | L>R | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs535425638 CA7115014 RCV000869643 RCV003169161 |
1311 | T>I | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1322506642 RCV000754795 CA389002696 |
1312 | Q>E | Restrictive cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16614074 RCV000461858 rs998323910 |
1316 | D>E | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs771913365 CA7115011 RCV000459976 RCV003129862 |
1326 | K>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000865488 RCV000247624 RCV001660390 CA7114959 rs148558068 |
1327 | A>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA237351 RCV002372075 RCV000852450 RCV000172026 RCV001088140 rs757840030 |
1330 | A>T | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs876657876 CA10576945 RCV003114383 RCV000223257 RCV001577107 RCV002057168 RCV002372230 |
1332 | A>V | Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000794032 RCV002352322 CA7114955 rs752258570 |
1333 | H>R | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001702562 CA7114953 RCV000801300 RCV002352361 rs758922922 |
1337 | S>L | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000658372 CA7114952 rs766238876 RCV000619363 RCV000227324 RCV002478857 |
1339 | R>Q | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs985894009 CA389002220 RCV001038945 RCV000588507 |
1339 | R>W | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs141062252 RCV000172025 RCV002354431 RCV001409841 CA237348 |
1342 | C>* | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7114949 RCV002358552 rs761711033 RCV000554208 |
1343 | D>N | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs372736126 RCV000704961 RCV000995126 CA134376 RCV001798116 RCV000037495 |
1346 | R>W | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7114944 rs570555040 CA389002094 RCV000695506 RCV000619384 |
1349 | Y>* | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000812894 rs1595052310 CA389002099 RCV002291704 |
1349 | Y>S | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001322419 RCV002248817 rs756392451 CA7114942 RCV000618949 |
1350 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000845372 rs1595052281 CA389002036 |
1354 | E>K | Conduction disorder of the heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001209675 RCV002505177 rs533942127 RCV000620200 RCV002272144 RCV000156402 RCV001357313 CA184770 |
1361 | R>H | Atrial septal defect 3 (asd3) Variant assessed as Somatic; 0.0 impact. Atrial septal defect 3 Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000823105 RCV002319922 RCV002495182 CA7114932 rs768398107 |
1362 | V>I | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001342066 rs778374207 CA7114927 |
1368 | S>L | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000779137 rs1566507342 CA389001825 |
1369 | E>* | MYH6-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346486 RCV000233729 RCV001171183 rs145611185 RCV000989182 RCV000157339 RCV002326893 RCV000216382 |
1379 | T>M | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001731946 RCV003169048 CA7114917 rs753774406 RCV000823137 |
1381 | A>T | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555333536 RCV000623864 CA389001492 RCV002532820 |
1382 | I>V | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs763926580 CA7114915 RCV000786369 RCV002329037 RCV000456403 |
1384 | R>W | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1566507274 CA389001354 RCV001243200 |
1388 | L>F | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000797282 rs397516768 CA134385 RCV000037498 |
1389 | E>K | Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001880081 CA7114848 RCV002327613 rs753160962 RCV001264422 |
1394 | K>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs150815925 CA237345 RCV000647058 RCV000172024 RCV000618730 RCV000223030 RCV001171182 |
1398 | R>Q | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001772136 RCV000820467 RCV002332703 RCV002501136 CA7114845 rs374022661 |
1398 | R>W | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs769398160 RCV000216111 RCV002327089 CA7114843 RCV001171181 |
1403 | E>K | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001057752 rs1891103132 |
1406 | V>missing | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000816147 CA346489 rs201566738 RCV002326894 RCV001529781 RCV000157340 |
1406 | V>M | Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000201880 CA279583 rs863225267 |
1414 | S>F | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614133 RCV001770322 rs1060501426 RCV000470923 |
1417 | E>Q | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA388999090 RCV000622834 RCV000538391 rs574433291 |
1422 | R>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000530234 RCV002527900 rs574433291 CA7114836 RCV002269287 |
1422 | R>Q | Inborn genetic diseases Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001256806 RCV002331211 RCV000647038 RCV001544894 RCV003224365 rs200465713 CA7114837 |
1422 | R>W | Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001225443 RCV002224028 CA7114834 rs752785030 |
1423 | L>I | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000852693 RCV000155802 rs201016285 CA183529 RCV000244312 RCV000756392 |
1431 | M>I | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7114831 rs146015292 RCV002331212 RCV000647055 |
1431 | M>T | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002482988 rs397516769 RCV000037501 RCV001852776 CA134394 |
1434 | V>I | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000154758 rs142556730 RCV002326881 CA181322 RCV001205885 RCV002483342 |
1436 | R>H | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs745683537 CA388998653 RCV000647067 |
1438 | N>S | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs137983703 RCV002499420 RCV001245982 RCV002327600 CA7114822 |
1440 | A>P | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000845518 RCV000701551 RCV000768516 RCV000761595 RCV002326864 CA176941 rs727503234 RCV000151213 RCV002478427 RCV000157341 RCV000995125 |
1443 | A>D | Atrial septal defect 3 (asd3) Atrial septal defect 3 Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1005724382 RCV001055188 RCV002481998 CA257780713 RCV003132183 |
1450 | N>T | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002327671 RCV001306252 CA7114783 rs746342054 |
1454 | I>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000015215 CA257140 RCV002496368 RCV000805305 VAR_063557 RCV000845441 rs267606905 |
1457 | E>K | Variant assessed as Somatic; 0.0 impact. Primary familial hypertrophic cardiomyopathy Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 CMD1EE [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs370412856 RCV001345409 |
1464 | E>G | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7114774 RCV002489173 rs766327056 RCV000482289 |
1465 | S>L | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV002330926 RCV000545041 RCV002497163 rs1555333437 CA658658240 |
1466 | Q>E | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000647070 RCV002530485 CA388997783 rs1555333429 |
1470 | E>Q | Inborn genetic diseases Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000620400 rs201989347 RCV002505238 RCV002272157 RCV000461394 CA237342 RCV000172023 |
1477 | R>C | Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA388997611 RCV001313675 rs201989347 RCV002329262 |
1477 | R>G | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000614150 RCV002331029 rs147586142 RCV000801070 CA7114765 |
1477 | R>H | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA257780366 RCV000656190 RCV001037698 rs147586142 |
1477 | R>L | Wolff-Parkinson-White pattern Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs930701630 RCV003224366 RCV002331213 RCV002493028 RCV000647061 CA257780356 |
1480 | S>G | Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000770433 rs761539900 RCV001068335 CA7114757 |
1489 | A>T | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001294616 rs1314169075 CA388997302 RCV002327610 RCV002486001 RCV001293060 |
1491 | E>K | Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA388997092 rs1595050790 RCV000810495 |
1501 | K>R | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199936506 CA134408 VAR_063558 RCV000515370 RCV001659959 RCV000466575 RCV000623195 RCV002336131 RCV000172022 RCV000037507 |
1502 | R>Q | Primary dilated cardiomyopathy Primary familial dilated cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 CMD1EE; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1381595537 CA388997042 RCV001343190 |
1503 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7114743 rs200380187 RCV000794289 RCV002334473 |
1509 | E>* | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs763022972 CA7114718 RCV001314722 RCV001586122 |
1512 | S>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001243123 RCV001547781 RCV000621872 CA257780076 rs900579440 |
1525 | V>M | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000226741 CA7114709 RCV002338720 RCV000415142 rs201827489 RCV001701711 |
1532 | R>C | Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001326872 CA7114707 RCV001755988 RCV002341539 rs34330111 RCV000602177 |
1532 | R>H | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001719961 RCV000154756 CA181318 RCV000852692 RCV000620512 RCV000228396 rs34330111 RCV000623367 |
1532 | R>L | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199600772 RCV000647040 CA7114706 RCV002334164 |
1534 | Q>H | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs750721562 RCV002334344 CA7114703 RCV000699783 RCV002499252 |
1542 | L>M | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA388995855 rs1595050469 RCV000817187 |
1542 | L>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388995818 RCV000545678 rs1177280918 RCV000618858 |
1543 | Q>H | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA388995702 RCV001256737 rs1342437470 RCV001363139 |
1549 | A>T | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7114673 rs373888186 CA388993312 RCV001798868 RCV002341230 RCV000520756 |
1555 | H>Q | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs148582147 RCV001029736 RCV000647064 CA7114671 RCV002334166 |
1556 | E>K | Atrial septal defect 3 Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7114670 rs768283362 RCV001047899 |
1557 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1276524636 RCV001211722 |
1558 | G>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002339390 rs371068881 CA7114662 RCV001322572 RCV002223267 RCV002482159 RCV001089614 |
1562 | R>L | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs371068881 RCV001374351 RCV001795473 CA7114663 RCV000248233 |
1562 | R>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002341393 CA7114664 rs756237624 RCV000534392 |
1562 | R>W | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001243003 CA388993063 rs1195354569 |
1564 | Q>R | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001256739 CA7114657 rs750138024 RCV002327608 |
1567 | F>C | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001219855 rs1258827113 CA388992847 |
1570 | I>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002505185 RCV000157342 rs730880151 CA346492 |
1571 | K>N | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs199627411 RCV000618001 CA7114655 RCV000545436 |
1574 | I>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs371067114 RCV001204767 RCV000618349 CA7114654 |
1575 | E>K | Variant assessed as Somatic; 4.622e-05 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002341148 RCV001229254 rs771898553 RCV000624637 RCV000481711 CA7114651 |
1576 | R>Q | Inborn genetic diseases Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001340562 rs1333346577 |
1579 | A>T | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811383 CA7114647 rs748264121 |
1582 | D>G | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA134422 RCV001852777 rs397516771 RCV000037513 RCV001550574 RCV000618656 RCV002490511 |
1583 | E>K | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003127687 rs1280321639 RCV001334051 RCV001211879 CA388992448 |
1584 | E>K | Atrial septal defect 3 Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000465735 rs1060501427 CA16614129 |
1585 | M>I | Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002534820 rs377473560 CA7114642 RCV000806034 |
1590 | R>H | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001591394 CA7114644 RCV002477361 RCV000623738 RCV002334034 rs544624250 |
1590 | R>S | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000647072 RCV002496592 CA134425 RCV000172021 rs200751434 RCV000037514 |
1591 | N>S | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_061364 RCV000037515 CA134428 RCV000253963 RCV000471328 rs45574136 |
1593 | Q>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000678717 CA7114641 rs545198745 RCV002331312 |
1594 | R>W | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs761627508 CA388991974 RCV000802999 |
1597 | D>E | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001193053 RCV001551760 rs770068575 CA7114635 RCV003106154 RCV002339487 |
1600 | Q>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs201667127 RCV000690288 CA388991802 |
1604 | D>E | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000465595 rs201683868 RCV000172020 RCV002492719 CA237339 RCV002336409 |
1608 | R>C | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002481280 rs747494958 RCV002338973 RCV000414669 CA7114632 |
1608 | R>H | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP |
|
RCV002338682 RCV001573798 RCV000468191 RCV000219757 rs780726611 CA7114630 RCV002485392 |
1610 | R>C | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs758792342 CA7114629 RCV002338894 RCV002225585 RCV002480128 RCV001314131 |
1610 | R>H | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000805639 rs1417882969 CA388991626 RCV002336635 RCV002223946 |
1612 | E>K | Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000245501 rs61742476 CA134434 RCV000467560 RCV000037517 |
1613 | V>A | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs372923261 RCV001322126 |
1616 | V>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776765616 CA7114616 RCV002339268 RCV001053076 RCV002481973 RCV001572358 |
1625 | N>S | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001309064 rs1891022943 |
1628 | E>D | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7114615 RCV002339520 RCV001840793 RCV001205375 rs369767936 |
1634 | A>T | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000037520 rs149460065 CA134443 RCV001719744 RCV000241881 RCV000226808 |
1636 | R>C | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs746448302 RCV002518694 RCV000246641 CA7114614 |
1636 | R>H | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000814564 rs777323881 CA388991117 |
1640 | E>D | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000816132 RCV000208194 RCV002485362 CA077541 rs748924413 RCV003129809 RCV002347813 |
1640 | E>K | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000995123 RCV001233107 CA388990900 rs1595049396 |
1650 | S>G | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001307708 RCV002341614 rs767073355 CA7114609 |
1650 | S>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs780842934 RCV001041800 CA7114577 |
1664 | R>C | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7114576 RCV002339145 rs778287981 RCV000469128 RCV002489033 RCV003133267 RCV001798832 |
1664 | R>H | Cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs758251388 CA7114573 RCV000756391 RCV000647052 |
1667 | D>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001224816 rs200884672 CA7114572 |
1668 | D>N | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs773755388 CA7114565 RCV001068135 RCV001699506 |
1676 | V>M | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7114563 RCV000689222 rs141195890 RCV001532741 |
1678 | R>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000156037 CA184049 rs727504739 RCV001338720 |
1688 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001322669 rs1421693475 |
1690 | L>R | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001326404 CA7114556 rs745747137 RCV002476534 |
1691 | R>C | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000155640 RCV002336331 rs727504502 RCV001559102 CA183191 RCV000768517 RCV002484940 RCV001242440 |
1691 | R>H | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001034163 rs373457153 RCV000770427 RCV000765148 RCV002348133 CA7114552 RCV000413418 |
1693 | V>M | Cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001850059 CA176938 RCV000151212 rs727503233 RCV002516035 |
1697 | T>A | Inborn genetic diseases Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs766345714 RCV002339529 CA7114549 RCV001207176 |
1699 | R>W | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7114545 RCV000647049 RCV002334165 rs762103586 RCV002507108 RCV001766392 |
1701 | R>Q | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002347844 RCV002517566 CA7114546 rs765737102 RCV000214141 |
1701 | R>W | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000688297 CA7114544 rs776961989 RCV001201319 RCV000626823 |
1704 | A>V | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000806764 rs1595048900 CA388989298 |
1710 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA237336 RCV001236365 RCV001193648 rs201383498 RCV002336408 RCV000765147 RCV000172019 |
1712 | S>I | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7114540 RCV000465457 RCV000250543 rs369275573 RCV000520603 |
1713 | E>K | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs369275573 CA10583165 RCV000229599 RCV002338722 |
1713 | E>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000799953 CA388988736 rs889866809 |
1722 | N>H | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001042200 rs1304636038 |
1726 | I>S | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002336726 rs757373258 RCV000824195 CA7114512 |
1731 | K>M | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA257777743 RCV001055492 RCV002339277 rs1028831815 TCGA novel RCV001760000 |
1732 | M>I | Hypertrophic cardiomyopathy 14 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD NCI-TCGA |
|
CA7114511 RCV000863185 RCV001574563 rs151324358 RCV000618898 |
1734 | S>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs142437308 RCV002274074 RCV002334035 RCV000623264 CA7114502 |
1753 | A>P | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs372270600 CA7114501 RCV001341985 |
1754 | E>* | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs372270600 CA7114500 RCV000796389 RCV001545187 RCV002334484 |
1754 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs372270600 CA7114499 RCV002334912 RCV001936341 |
1754 | E>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs746064687 RCV001040364 CA7114498 RCV000497445 RCV002341175 |
1756 | K>R | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001256732 RCV001858807 RCV002346201 rs146539406 RCV002298814 RCV002481770 CA7114497 |
1760 | A>T | Dilated cardiomyopathy 1A Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001699024 RCV000037529 RCV000845414 RCV000619201 RCV000770426 rs397516775 RCV000467764 RCV002482989 CA134466 |
1765 | A>T | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7114461 RCV002483739 RCV002531864 RCV000618705 rs760667847 |
1766 | M>T | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000803555 RCV000617540 CA354886 rs769271404 RCV000208386 |
1779 | A>D | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002350543 rs1046257632 RCV001301126 CA257776482 |
1780 | H>Y | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs747585087 RCV002504562 RCV001351223 CA7114453 |
1781 | L>M | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000534166 RCV000244484 rs745473249 CA7114450 RCV000624009 |
1783 | R>H | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1890963680 RCV001198790 |
1788 | M>I | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7114437 RCV000468128 RCV000413792 RCV000621434 rs144571463 RCV001567202 RCV001798781 |
1804 | Q>K | Cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs779394829 CA7114433 RCV000623659 |
1810 | G>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA257776395 RCV001334053 rs201494081 |
1818 | E>Q | Atrial septal defect 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
CA7114429 RCV001341338 rs371222772 RCV002486376 |
1820 | R>Q | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000216487 RCV000766294 RCV000617563 rs111473291 RCV002485393 RCV001055045 CA7114430 |
1820 | R>W | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001245481 rs1890959930 |
1821 | V>G | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1298835458 RCV000647066 CA388984245 |
1822 | R>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001658058 RCV000770424 RCV000845389 RCV000253607 RCV000230889 RCV001543371 rs878854502 CA10583164 |
1826 | G>N | Conduction disorder of the heart Cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727504626 CA183735 RCV001850140 RCV000155886 RCV003128585 |
1829 | E>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001048308 CA388984150 rs1250778572 |
1830 | A>T | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA244827 RCV002478588 RCV000622492 RCV000177872 RCV001229276 rs367834703 |
1831 | E>K | Inborn genetic diseases Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs137923514 CA10645036 RCV001566648 RCV001040196 |
1834 | R>C | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
rs202132499 RCV002348405 RCV001052711 CA7114418 RCV002489626 |
1834 | R>H | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000534813 RCV002350321 RCV002483465 RCV000587278 rs747673552 CA7114415 |
1838 | S>L | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000822382 CA7114414 rs754865673 |
1839 | V>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000521903 RCV002469091 RCV001256805 CA7114413 RCV002479985 RCV001262777 RCV000254495 RCV000477541 rs373629059 |
1840 | K>R | Left ventricular noncompaction 1 Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000688696 rs754070802 CA388983985 |
1842 | M>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA388983906 RCV000817482 rs752718246 |
1847 | R>G | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000812709 rs767679378 CA7114405 RCV002261026 RCV002479982 RCV000254160 |
1847 | R>Q | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000807126 CA7114404 RCV000618134 rs570853853 |
1848 | R>C | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs1441072867 RCV002223871 RCV000541411 RCV002350323 CA388983449 |
1859 | D>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000623148 RCV000688532 CA7114338 RCV002343177 rs138720701 RCV002477362 |
1865 | R>Q | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000845390 RCV002495209 RCV002345929 RCV001858457 CA7114339 rs759499155 |
1865 | R>W | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002485768 RCV001592909 rs201919534 RCV002343566 CA7114332 RCV000706086 |
1876 | K>R | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000586382 RCV000796615 RCV000852690 rs750886219 RCV003150290 CA7114330 RCV002350414 |
1881 | K>R | Cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001293156 rs199755234 RCV001879972 RCV002348854 RCV001732095 CA7114328 |
1882 | R>H | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs760353963 RCV002343326 RCV001530021 CA7114325 RCV001280662 RCV000647068 |
1885 | E>K | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7114324 RCV002345753 RCV000795486 rs138864419 |
1886 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002223888 rs767096302 RCV002532818 RCV000617320 RCV001194284 RCV002491335 CA7114323 |
1887 | A>V | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs947393801 CA388982075 RCV000793264 |
1888 | E>K | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001307762 rs1209697861 RCV000999584 CA388981834 |
1896 | S>F | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001041445 rs762923098 CA7114303 |
1898 | F>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs201199853 CA7114301 RCV000647041 RCV001700436 RCV002343325 |
1898 | F>L | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10587756 rs762923098 RCV000247796 RCV002487142 |
1898 | F>V | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000801894 RCV002487697 CA7114300 rs371607892 |
1899 | R>C | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
RCV001343595 RCV002480324 CA16607592 rs61731171 RCV000421266 RCV002348251 |
1899 | R>H | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001235456 rs1057518591 |
1904 | E>Q | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000155801 RCV001351716 CA183526 RCV002492589 rs373076710 RCV002345508 |
1912 | A>V | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA388981503 rs1555332882 RCV000624592 |
1913 | D>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000769401 CA388981413 rs1566503504 |
1916 | E>D | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs765861895 RCV000245042 CA7114288 RCV000647048 |
1923 | R>* | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002509544 RCV000800482 CA388981171 rs1424944982 |
1927 | R>C | Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs730880152 RCV000553866 CA7114286 |
1927 | R>H | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000157343 RCV002516357 rs730880152 RCV002498779 CA346495 |
1927 | R>L | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1890889294 RCV001341914 |
1929 | I>V | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002507187 RCV000686510 RCV002352117 CA7114283 rs763914096 |
1932 | K>* | Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001228706 rs372265811 CA7114263 RCV002356976 |
1935 | M>I | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000232563 rs878854503 CA10583163 RCV000522978 RCV000243674 |
1937 | D>N | Hypertrophic cardiomyopathy 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs975545708 CA257800516 |
3 | D>G | No |
ClinGen Ensembl |
|
|
rs1367579362 CA389032224 |
9 | F>S | No |
ClinGen gnomAD |
|
|
CA389032211 rs1229334328 |
11 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA389032210 rs1360228952 |
11 | A>V | No |
ClinGen TOPMed |
|
|
rs562487638 CA257800515 |
12 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389032192 rs1595065752 |
14 | Q>P | No |
ClinGen Ensembl |
|
|
rs1229592151 CA389032189 |
15 | Y>N | No |
ClinGen gnomAD |
|
|
CA389032186 rs1595065744 |
15 | Y>S | No |
ClinGen Ensembl |
|
|
rs746646172 CA7116275 |
17 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746646172 CA389032171 |
17 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 19 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs987272353 CA257800504 |
20 | E>Q | No |
ClinGen Ensembl |
|
|
rs778757636 CA7116273 |
25 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1162925455 CA389032112 |
27 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA389032107 rs1425680559 |
27 | Q>H | No |
ClinGen gnomAD |
|
|
CA7116270 rs150574114 |
29 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7116271 rs752885646 |
29 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257800466 rs751750825 |
30 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA7116269 rs751750825 |
30 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs951148263 CA257800469 |
30 | P>S | No |
ClinGen TOPMed |
|
|
CA7116268 rs200657398 |
31 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750776536 CA7116266 |
32 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389032075 rs1380115013 |
33 | I>S | No |
ClinGen TOPMed |
|
|
CA10576949 rs876657875 RCV000222136 |
35 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1223271745 CA389032058 |
36 | E>D | No |
ClinGen gnomAD |
|
|
rs775038703 CA7116262 |
40 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs775038703 CA7116261 |
40 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1220888627 CA389032033 |
40 | P>S | No |
ClinGen gnomAD |
|
|
rs1439963430 CA389032026 |
41 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 41 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441587255 CA389032015 |
43 | K>E | No |
ClinGen TOPMed |
|
|
CA7116257 rs771062327 |
43 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA389031990 rs1595065619 |
46 | F>Y | No |
ClinGen Ensembl |
|
|
rs369366244 CA7116256 |
54 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389031928 rs1221039201 |
55 | E>D | No |
ClinGen TOPMed |
|
|
rs1317811281 CA389031929 |
55 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1469851944 CA389031918 |
57 | G>D | No |
ClinGen TOPMed |
|
|
rs1427899950 CA389031911 |
58 | K>R | No |
ClinGen gnomAD |
|
|
CA389031907 rs377029781 |
59 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7116255 rs377029781 |
59 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377029781 CA7116254 |
59 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 61 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389031878 rs1454138216 |
63 | T>S | No |
ClinGen gnomAD |
|
|
rs1566517347 CA389031867 |
65 | N>S | No |
ClinGen Ensembl |
|
|
CA389031856 rs1250343009 |
67 | K>Q | No |
ClinGen gnomAD |
|
|
CA389031835 rs751285148 |
68 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773127466 CA7116224 |
71 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7116222 rs761815039 |
75 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1448176145 CA389031749 |
81 | P>S | No |
ClinGen TOPMed |
|
|
CA7116219 rs754260713 |
82 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257799229 rs754260713 |
82 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA134280 rs397516758 RCV000037457 |
85 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs442275 CA7116218 VAR_030203 |
88 | E>Q | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA257799192 rs989677877 |
92 | M>I | No |
ClinGen Ensembl |
|
|
rs756371897 CA7116216 |
92 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs140596256 CA7116214 |
98 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA389031569 rs1406034162 |
99 | P>H | No |
ClinGen TOPMed |
|
|
rs1004123964 CA257799167 |
101 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7116211 rs762688602 |
102 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA257799164 rs376330318 |
103 | F>C | No |
ClinGen ESP |
|
|
CA7116210 rs750029272 |
105 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1369725432 CA16622152 |
106 | K>R | No |
ClinGen gnomAD |
|
|
CA389031426 rs147148031 |
109 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257799148 rs926609805 |
109 | Y>H | No |
ClinGen TOPMed |
|
|
rs150745354 CA7116205 CA7116204 |
113 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257799121 rs899143706 |
114 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA389031342 rs1290352295 |
115 | Y>C | No |
ClinGen TOPMed |
|
|
CA7116203 rs777804028 |
115 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595064578 CA389031285 |
116 | T>P | No |
ClinGen Ensembl |
|
|
CA389031273 rs1478881834 |
117 | Y>N | No |
ClinGen gnomAD |
|
|
rs1322526035 CA389031251 |
118 | S>L | No |
ClinGen TOPMed |
|
|
CA7116183 rs769074801 |
120 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA389031205 rs1365800845 |
122 | C>F | No |
ClinGen TOPMed |
|
|
rs1595064560 CA389031161 |
126 | N>T | No |
ClinGen Ensembl |
|
|
rs745340861 CA7116179 |
128 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1595064549 CA389031113 |
130 | W>G | No |
ClinGen Ensembl |
|
|
CA389031090 rs1278525766 |
132 | P>A | No |
ClinGen gnomAD |
|
|
rs1595064533 CA389031072 |
133 | V>G | No |
ClinGen Ensembl |
|
|
rs1347549938 CA389031052 |
135 | N>H | No |
ClinGen gnomAD |
|
|
CA389031040 rs1350104595 |
135 | N>K | No |
ClinGen TOPMed |
|
|
rs763885051 CA7116176 |
135 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752658033 CA7116174 |
137 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7116173 rs763139129 |
138 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA389031000 rs763139129 |
138 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA257798772 rs942136886 |
138 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA389030987 rs1416003742 |
139 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs765559939 CA7116171 |
140 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs765559939 CA389030977 |
140 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs769164879 CA7116169 |
142 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs2277473 CA7116167 |
143 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200377640 CA257798743 |
143 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
CA16622153 rs199923533 |
144 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7116166 rs199923533 |
144 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377104438 CA7116165 |
147 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756722953 CA7116164 |
149 | E>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000493239 CA389030846 rs1131691839 |
151 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 155 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257798660 rs372298082 RCV000618589 |
156 | S>C | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
rs982752675 CA257798651 |
159 | D>E | No |
ClinGen Ensembl |
|
|
rs369931610 CA7116160 |
159 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1448164373 CA389029947 |
168 | D>A | No |
ClinGen gnomAD |
|
|
CA257798596 rs145149045 |
168 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145149045 CA7116155 |
168 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs949447371 CA389029934 |
169 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs949447371 CA257797228 |
169 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA257797235 rs745761713 |
169 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA389029843 rs1244614745 |
176 | I>T | No |
ClinGen gnomAD |
|
|
CA389029850 rs1595064323 |
176 | I>V | No |
ClinGen Ensembl |
|
|
CA389029830 rs1223199964 |
177 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 180 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 182 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763305936 CA7116112 |
182 | A>T | No |
ClinGen ExAC |
|
|
CA257796844 rs929665024 |
188 | T>A | No |
ClinGen Ensembl |
|
|
RCV000037535 CA134482 rs397516777 |
190 | R>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs775500798 CA7116106 |
195 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs772200784 CA7116105 |
195 | F>L | No |
ClinGen ExAC |
|
|
rs745642166 CA7116104 |
197 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs535526291 CA7116103 |
199 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389029451 rs1344422091 |
203 | D>E | No |
ClinGen Ensembl |
|
|
CA389029437 rs1482751110 |
205 | G>S | No |
ClinGen gnomAD |
|
|
rs781398043 CA257796810 |
205 | G>V | No |
ClinGen Ensembl |
|
|
CA7116100 rs556370899 |
209 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749643853 CA257796782 |
211 | N>I | No |
ClinGen TOPMed |
|
|
rs886039039 RCV000248673 CA10587763 |
211 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs749643853 CA257796784 |
211 | N>S | No |
ClinGen TOPMed |
|
|
CA389029337 rs780456381 |
212 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765622615 CA7116095 |
214 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA257796505 rs940466173 |
215 | G>S | No |
ClinGen TOPMed |
|
|
rs1323504358 CA389029222 |
215 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA389029211 rs1448960877 |
216 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA257796502 rs1048762404 |
218 | E>A | No |
ClinGen TOPMed |
|
|
CA7116067 rs762797915 |
219 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 221 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389029095 rs1566515952 |
225 | N>S | No |
ClinGen Ensembl |
|
|
rs772932190 CA7116066 |
226 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 227 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7116064 rs199916773 |
231 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA257796482 rs587782960 |
232 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257796476 rs544293019 |
235 | K>R | No |
ClinGen gnomAD |
|
|
rs556235994 CA7116059 |
238 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7116057 rs375030177 |
240 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371608354 CA7116054 |
245 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA389028765 rs1199022689 |
246 | G>E | No |
ClinGen gnomAD |
|
|
CA7116037 rs765838969 |
249 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs751086645 CA7116038 |
249 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1595063510 CA389028699 |
252 | H>D | No |
ClinGen Ensembl |
|
|
rs765016322 CA7116034 |
254 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 259 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389028615 rs1332026608 |
260 | A>T | No |
ClinGen gnomAD |
|
|
CA389028606 rs1470827277 |
260 | A>V | No |
ClinGen gnomAD |
|
|
CA389028593 rs1177384521 |
262 | A>T | No |
ClinGen gnomAD |
|
|
CA7116031 rs767702815 |
262 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759793049 CA7116030 |
264 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA389028566 rs759793049 |
264 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs746593504 CA7116005 |
272 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 274 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389028366 rs201327273 |
275 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389028372 rs1595063300 |
275 | I>V | No |
ClinGen Ensembl |
|
|
CA7116003 rs778523059 |
280 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7115998 rs752600386 RCV000220159 |
293 | N>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs766491499 CA7115997 |
294 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs750433126 CA7115995 |
296 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1343760890 CA389028067 |
298 | L>* | No |
ClinGen TOPMed |
|
|
rs1469961484 CA389027276 |
301 | M>I | No |
ClinGen gnomAD |
|
|
RCV000620587 CA389027280 rs1555334802 |
301 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 301 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770635336 CA7115968 |
304 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs576034003 CA7115964 |
313 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1308312943 CA389027030 |
317 | G>E | No |
ClinGen gnomAD |
|
|
CA257795387 rs753937010 |
321 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs753937010 CA7115959 |
321 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs764299069 CA7115958 |
322 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs928866053 CA257795381 |
322 | A>T | No |
ClinGen TOPMed |
|
|
CA389026950 rs1452932809 |
323 | S>A | No |
ClinGen gnomAD |
|
|
CA389026936 rs1244112716 |
323 | S>C | No |
ClinGen TOPMed |
|
|
rs1156361474 CA389026896 |
325 | D>G | No |
ClinGen gnomAD |
|
|
rs773152632 CA7115955 |
326 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7115956 rs773152632 |
326 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs144422878 CA7115954 |
328 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 330 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112677696 CA257795336 |
331 | M>I | No |
ClinGen Ensembl |
|
|
rs765987210 CA7115953 |
332 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs572757741 CA7115951 |
334 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 334 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427108382 CA389026673 |
335 | S>G | No |
ClinGen TOPMed |
|
|
rs763533477 CA7115916 |
338 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381825784 CA389026538 |
339 | V>A | No |
ClinGen TOPMed |
|
|
CA7115914 rs760632098 |
339 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA389026448 rs1595062733 |
344 | S>A | No |
ClinGen Ensembl |
|
|
CA389026435 rs1339734533 |
344 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1400673282 CA389026404 |
345 | E>D | No |
ClinGen TOPMed |
|
|
CA389026398 rs1262102654 |
346 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 348 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1002843684 CA257795121 |
348 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7115913 rs775571547 |
349 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA389026276 rs1410301153 |
352 | K>N | No |
ClinGen gnomAD |
|
|
rs1263394605 CA389026253 |
354 | T>A | No |
ClinGen TOPMed |
|
|
CA7115911 rs201375441 |
354 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1166636578 CA389026181 |
356 | A>V | No |
ClinGen gnomAD |
|
|
CA389026166 rs1429092754 |
357 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1177155503 CA389026071 |
359 | H>Q | No |
ClinGen gnomAD |
|
|
RCV000995135 CA257795085 rs867092195 |
359 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389026047 rs528094937 |
360 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389026058 rs908733511 |
360 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs908733511 CA257795084 |
360 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7115907 rs747162281 |
361 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA389025914 rs1400695659 |
366 | K>E | No |
ClinGen TOPMed |
|
|
CA257795021 rs141083503 |
370 | R>L | No |
ClinGen ESP TOPMed |
|
|
rs397516754 RCV000037437 CA134224 |
371 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 374 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348513811 CA389025707 |
374 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7115901 rs752309025 |
375 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA389025704 rs1595062663 |
375 | E>Q | No |
ClinGen Ensembl |
|
|
rs2515926 CA257794961 |
376 | P>Q | No |
ClinGen Ensembl |
|
|
rs767537703 CA7115900 |
377 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1334996559 CA389025625 |
379 | T>I | No |
ClinGen gnomAD |
|
|
rs768924353 CA7115896 |
380 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1595061880 CA389024745 |
381 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 381 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389024738 rs1330935305 |
382 | A>S | No |
ClinGen TOPMed |
|
|
CA7115866 rs749590325 |
384 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7115862 rs146468868 |
386 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758383992 CA257793906 |
389 | M>I | No |
ClinGen Ensembl |
|
|
CA7115860 rs751143031 |
389 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs786205484 RCV000171219 CA235899 |
401 | C>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs760827414 CA7115855 |
402 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 405 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389024267 rs1368906663 |
406 | K>Q | No |
ClinGen gnomAD |
|
|
CA389024245 rs1471518338 |
407 | V>M | No |
ClinGen TOPMed |
|
|
rs765303211 CA257793862 |
408 | G>S | No |
ClinGen gnomAD |
|
|
CA389024207 rs752919716 |
409 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199754151 CA389024108 |
417 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7115851 rs199754151 |
417 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773659892 CA7115849 |
420 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7115847 rs200359124 |
421 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs139191436 CA7115846 |
426 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1566513959 CA389023891 |
431 | A>S | No |
ClinGen Ensembl |
|
|
rs779647429 CA7115844 |
432 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA389023851 rs1347517536 |
433 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7115843 rs758220970 |
434 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1566513950 CA389023846 |
434 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 435 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7115842 rs572323362 |
436 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389023762 rs1222529079 |
439 | W>* | No |
ClinGen gnomAD |
|
|
rs1595061756 CA389023752 |
440 | M>L | No |
ClinGen Ensembl |
|
|
CA7115841 rs778611517 |
441 | V>M | No |
ClinGen ExAC TOPMed |
|
|
rs202096001 CA257793782 |
443 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000156769 CA185529 rs202096001 |
443 | R>P | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7115835 rs773853983 |
446 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs796417215 CA257793767 |
447 | T>P | No |
ClinGen Ensembl |
|
|
rs1191380848 CA389023593 |
450 | T>A | No |
ClinGen TOPMed |
|
|
rs1380690189 CA389023562 |
451 | K>N | No |
ClinGen gnomAD |
|
|
CA257793759 rs112494241 |
451 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 453 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389023515 rs1425571023 |
454 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1241500497 CA389023508 |
454 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 456 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7115830 rs768154640 |
456 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs746698222 CA7115829 |
458 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA257793724 rs929124038 |
467 | E>D | No |
ClinGen Ensembl |
|
|
CA7115825 rs778808038 |
467 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| rs139886074 | 470 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7115821 rs755103712 |
470 | D>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000995134 rs777651128 CA389023291 |
470 | D>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs576180356 CA7115803 |
471 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7115802 rs780302468 |
472 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs397516755 CA134239 RCV000037442 |
475 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1332933521 CA389023011 |
481 | F>I | No |
ClinGen TOPMed |
|
|
CA389022982 rs1394875988 |
482 | T>N | No |
ClinGen TOPMed |
|
|
CA389022973 rs145447555 |
483 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 486 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389022879 rs1595061462 |
489 | F>Y | No |
ClinGen Ensembl |
|
|
CA389022833 rs1292552935 |
492 | H>Y | No |
ClinGen gnomAD |
|
|
rs769444785 CA257793377 |
493 | H>R | No |
ClinGen Ensembl |
|
|
rs745470997 CA257793376 |
495 | F>C | No |
ClinGen Ensembl |
|
|
CA7115795 rs375142167 |
498 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7115793 rs759217006 |
501 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 501 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 502 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773800447 CA7115791 |
503 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA389022581 rs1595061418 |
504 | K>R | No |
ClinGen Ensembl |
|
|
rs770439533 CA7115790 |
505 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA389022548 rs1390583534 |
506 | G>S | No |
ClinGen gnomAD |
|
|
rs188023690 CA10634742 |
507 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1396093509 CA389022534 |
507 | I>V | No |
ClinGen gnomAD |
|
|
rs747945067 CA7115786 |
508 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1175791487 CA389022473 |
509 | W>* | No |
ClinGen gnomAD |
|
|
rs533766156 CA257793313 |
512 | I>V | No |
ClinGen 1000Genomes |
|
|
rs779071373 CA7115783 |
516 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1437641740 CA389022358 |
516 | M>V | No |
ClinGen gnomAD |
|
|
rs1457884910 CA389022304 |
518 | L>P | No |
ClinGen gnomAD |
|
|
rs1170224049 CA389022285 |
519 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 520 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7115781 rs753920381 |
521 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778318391 CA7115780 |
522 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 523 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423423062 CA389022173 |
526 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 527 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10634739 rs886050411 |
530 | G>S | No |
ClinGen Ensembl |
|
|
CA389021135 rs1166850300 |
532 | M>K | No |
ClinGen gnomAD |
|
|
rs1264642639 CA389021103 |
534 | I>N | No |
ClinGen gnomAD |
|
|
rs1396789989 CA389021089 |
536 | E>Q | No |
ClinGen TOPMed |
|
|
rs1555334438 RCV000658685 CA389021064 |
537 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 540 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223480987 CA389020961 |
544 | A>S | No |
ClinGen gnomAD |
|
|
CA7115732 rs764088672 |
546 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA389020931 rs1290826704 |
546 | D>V | No |
ClinGen gnomAD |
|
|
CA7115731 rs760722098 |
547 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775372834 CA7115730 |
550 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs767230041 CA7115729 |
551 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7115727 rs374114140 |
554 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA257792473 rs370663301 |
555 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1169335242 CA389020783 |
556 | N>K | No |
ClinGen gnomAD |
|
|
rs1274588774 CA389020780 |
557 | H>N | No |
ClinGen TOPMed |
|
|
CA389020777 rs1274588774 |
557 | H>Y | No |
ClinGen TOPMed |
|
|
CA389020766 rs1463678920 |
558 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 561 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425150297 CA389020719 |
562 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389020720 rs1425150297 |
562 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs780553759 CA257792467 |
563 | N>S | No |
ClinGen Ensembl |
|
|
CA389020675 rs1203158451 |
565 | Q>* | No |
ClinGen TOPMed |
|
|
rs901825462 CA257792461 |
566 | K>E | No |
ClinGen Ensembl |
|
|
CA389020657 rs1230644840 |
566 | K>T | No |
ClinGen TOPMed |
|
|
rs1595060558 CA389020611 |
570 | I>V | No |
ClinGen Ensembl |
|
|
CA389020557 rs1422951029 |
572 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV000172031 rs786205354 |
573 | K>missing | No |
ClinVar dbSNP |
|
|
CA257792456 rs201040801 |
573 | K>E | No |
ClinGen 1000Genomes |
|
|
CA389020495 rs1192749008 |
575 | E>* | No |
ClinGen gnomAD |
|
|
rs769103956 CA7115724 |
576 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA257792447 rs374180605 |
579 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA389020406 rs374180605 |
579 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs747528643 CA7115722 |
580 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs371080062 CA7115721 |
581 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142992009 CA7115716 |
588 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751418733 RCV000519135 CA7115713 |
595 | L>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs759236619 CA7115714 |
595 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7115712 rs765338504 |
597 | K>E | No |
ClinGen ExAC gnomAD |
|
| rs774500922 | 598 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7115710 rs201855741 |
599 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7115709 rs776636056 |
600 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA257792376 rs901555768 |
601 | P>L | No |
ClinGen TOPMed |
|
|
rs746184323 CA7115705 |
606 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs772688148 CA7115706 |
606 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1313292150 CA389019947 |
607 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1256642105 CA389019943 |
608 | A>G | No |
ClinGen TOPMed |
|
|
CA389019942 rs1256642105 |
608 | A>V | No |
ClinGen TOPMed |
|
|
rs770655307 CA7115703 |
609 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA389019931 rs1595060452 |
610 | Y>S | No |
ClinGen Ensembl |
|
|
rs777351999 CA7115701 |
611 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777351999 CA7115702 |
611 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7115700 rs755680736 |
611 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1595060443 CA389019914 |
613 | S>P | No |
ClinGen Ensembl |
|
|
CA7115699 rs780968464 |
614 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754975942 CA7115698 |
614 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167547697 CA389019889 |
617 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs751266021 CA7115697 |
618 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761957649 CA7115695 |
621 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754059097 CA7115694 |
622 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA389019852 rs1595060416 |
623 | S>P | No |
ClinGen Ensembl |
|
|
rs1595060413 CA389019846 |
624 | S>T | No |
ClinGen Ensembl |
|
|
CA7115691 rs146591697 |
625 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257792287 rs760108411 |
626 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7115690 rs760108411 |
626 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1356322780 CA389019829 |
627 | T>N | No |
ClinGen gnomAD |
|
|
CA7115689 rs80337928 |
627 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 630 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777553713 CA7115686 |
631 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA257791258 rs367607444 |
632 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1057190824 CA257791255 |
633 | S>G | No |
ClinGen gnomAD |
|
|
CA389019776 rs1288080565 |
634 | G>S | No |
ClinGen TOPMed |
|
|
CA389019759 rs1168624799 |
636 | S>N | No |
ClinGen gnomAD |
|
|
CA7115664 rs775936803 |
636 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779940590 CA257791246 |
639 | G>D | No |
ClinGen Ensembl |
|
|
rs1162878585 CA389019737 |
640 | K>Q | No |
ClinGen gnomAD |
|
|
CA389019725 rs1401348638 RCV000845358 |
641 | K>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7115663 rs768209175 |
641 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1401348638 CA389019726 |
641 | K>R | No |
ClinGen Ensembl |
|
|
rs563533053 CA7115662 |
644 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7115661 rs779949089 |
645 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs543231422 CA7115658 |
649 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372300127 CA389019668 |
650 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372300127 CA7115657 |
650 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs767696152 CA7115655 |
651 | A>V | No |
ClinGen ExAC gnomAD |
|
| rs369938365 | 654 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763585076 CA7115651 |
654 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147623358 CA7115629 |
658 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000618993 rs780949569 |
659 | K>missing | No |
ClinVar dbSNP |
|
|
rs1217748685 CA389019454 |
661 | M>I | No |
ClinGen TOPMed |
|
|
CA389019441 rs1236456778 |
662 | T>N | No |
ClinGen gnomAD |
|
|
rs1279210494 CA389019419 |
664 | L>M | No |
ClinGen gnomAD |
|
|
CA389019404 rs1566511867 |
665 | R>K | No |
ClinGen Ensembl |
|
|
CA389019392 rs1215762116 |
666 | T>I | No |
ClinGen gnomAD |
|
|
CA7115627 rs754199269 |
670 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7115626 rs763764374 |
671 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA257790990 rs763764374 |
671 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA257790989 rs967679826 |
672 | V>M | No |
ClinGen Ensembl |
|
|
CA257790988 rs1023327699 |
673 | R>H | Atrial septal defect 3 (asd3) Variant assessed as Somatic; 0.0 impact. [Ensembl, NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1445873737 CA389019271 |
676 | I>F | No |
ClinGen gnomAD |
|
|
CA7115625 rs760345212 |
676 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA389019219 rs576497958 |
680 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA257790981 rs576497958 |
680 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA257790973 rs927752391 |
682 | A>S | No |
ClinGen TOPMed |
|
|
rs1400989865 CA389019162 |
683 | P>L | No |
ClinGen gnomAD |
|
|
rs759110601 CA7115623 |
684 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs770861495 CA7115602 |
685 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1215622115 CA389019058 CA389019063 |
687 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7115599 rs769708956 |
688 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs772993972 CA7115600 |
688 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389019035 rs772993972 |
688 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389019017 rs1394731379 |
689 | P>L | No |
ClinGen gnomAD |
|
|
rs1555334236 CA7115594 |
690 | L>Q | No |
ClinGen Ensembl |
|
|
CA389018955 rs1595058888 |
693 | H>P | No |
ClinGen Ensembl |
|
|
CA389018947 rs1171073800 |
693 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 693 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767142932 RCV000845561 CA389018825 |
700 | V>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1595058862 CA389018805 |
701 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 702 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000519782 CA7115587 RCV002420316 rs754654593 |
705 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA7115586 rs751030733 |
706 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs765820205 CA7115585 |
706 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389017791 rs765820205 |
706 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7115583 rs773009780 |
707 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1221259755 CA389017719 |
709 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761520417 CA7115581 |
714 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257789709 rs761520417 |
714 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV002429453 CA16607597 rs776602843 RCV000444907 |
714 | R>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs772374378 CA7115579 |
715 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389017560 rs1197844622 |
718 | G>R | No |
ClinGen gnomAD |
|
|
CA7115578 rs774419384 |
719 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA389017490 rs1357337454 |
720 | F>L | No |
ClinGen gnomAD |
|
|
rs781467923 CA7115554 |
725 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7115552 rs377485587 |
726 | I>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA7115549 rs571715099 |
731 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 734 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201411075 CA257789541 |
736 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 737 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535012567 CA7115546 |
738 | I>T | No |
ClinGen 1000Genomes ExAC |
|
|
rs1401647299 CA389017113 |
738 | I>V | No |
ClinGen gnomAD |
|
|
CA389017081 rs374177807 |
739 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7115545 rs146414756 |
741 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs146414756 CA257789518 |
741 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA389016995 rs1412862113 |
743 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA389016993 rs1366859659 |
744 | T>A | No |
ClinGen gnomAD |
|
|
rs1566511502 CA389016939 |
746 | K>N | No |
ClinGen Ensembl |
|
|
CA389016932 rs766470440 |
747 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389016918 rs1198472070 |
748 | L>F | No |
ClinGen TOPMed |
|
|
CA389016904 rs1427499890 |
749 | S>G | No |
ClinGen TOPMed |
|
|
rs1423498819 CA389016880 |
750 | S>A | No |
ClinGen gnomAD |
|
|
CA389016877 rs1192081784 |
750 | S>Y | No |
ClinGen gnomAD |
|
|
CA389016842 rs1262801085 |
752 | D>V | No |
ClinGen gnomAD |
|
|
rs1487300978 CA389016805 |
754 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761939427 CA7115540 |
756 | N>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000246711 CA7115538 rs528854076 |
758 | Y>C | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA389016732 rs1316699265 |
758 | Y>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 759 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7115537 rs747298006 |
760 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA7115536 rs780492748 |
764 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1413400553 CA389016485 |
766 | F>L | No |
ClinGen gnomAD |
|
|
rs139182991 CA7115502 |
769 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs982571968 CA257789262 |
771 | L>M | No |
ClinGen TOPMed |
|
|
CA389016447 rs1391957569 |
771 | L>R | No |
ClinGen gnomAD |
|
|
rs1405306434 CA389016418 |
774 | L>P | No |
ClinGen gnomAD |
|
|
rs759945266 CA7115499 |
777 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1367322391 CA389016367 |
778 | M>I | No |
ClinGen gnomAD |
|
|
rs774884059 CA7115498 |
778 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs182951502 CA7115497 |
779 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs748960382 CA7115496 |
780 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA389016332 rs1215602952 |
781 | E>D | No |
ClinGen gnomAD |
|
|
CA389016330 rs1488111533 |
782 | R>G | No |
ClinGen gnomAD |
|
|
CA257789243 rs557444310 |
782 | R>K | No |
ClinGen 1000Genomes |
|
|
rs11847151 VAR_030204 CA257789241 |
783 | L>M | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs200229373 CA7115493 |
786 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7115492 rs200229373 |
786 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 786 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1417728719 CA389016277 |
787 | I>T | No |
ClinGen TOPMed |
|
|
CA389016281 rs1283666600 |
787 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7115491 rs746758304 |
788 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200925880 CA389016262 |
789 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1481986940 CA389016244 CA389016246 |
790 | M>I | No |
ClinGen gnomAD |
|
|
rs764284030 CA7115486 |
790 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA389016251 rs1400861446 |
790 | M>T | No |
ClinGen gnomAD |
|
|
CA10576947 rs764284030 RCV000216052 |
790 | M>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs756200073 CA257789181 |
791 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs756200073 CA7115485 |
791 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA389016231 rs1595058261 |
791 | Q>H | No |
ClinGen Ensembl |
|
|
rs780273490 CA257789167 |
799 | M>L | No |
ClinGen Ensembl |
|
|
rs763477425 CA7115481 |
800 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447782770 CA389016122 |
801 | I>T | No |
ClinGen gnomAD |
|
|
CA389016107 rs1566511224 |
802 | E>D | No |
ClinGen Ensembl |
|
|
rs1566511218 CA389016088 |
804 | K>Q | No |
ClinGen Ensembl |
|
|
CA389016054 rs776028610 |
806 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1289302937 CA389016058 |
806 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 807 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7115475 rs746955749 |
809 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA389016024 rs746955749 |
809 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1060501428 CA389016017 |
810 | R>W | No |
ClinGen TOPMed |
|
|
CA389014876 rs1205782722 |
815 | V>I | No |
ClinGen gnomAD |
|
|
CA7115449 rs199675944 |
816 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389014803 rs758852308 |
819 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1278622745 CA389014808 |
819 | N>T | No |
ClinGen gnomAD |
|
|
CA389014773 rs1182211881 |
821 | R>Q | No |
ClinGen gnomAD |
|
|
CA389014774 rs1348126724 |
821 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA389014736 rs1221607900 |
824 | M>V | No |
ClinGen gnomAD |
|
| rs1566510417 | 826 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 826 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257787623 rs200323611 |
828 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765525780 CA7115447 |
830 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA389014612 rs1373471642 |
832 | M>V | No |
ClinGen gnomAD |
|
|
CA7115446 rs757710133 |
835 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 836 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 838 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775017184 CA7115442 |
843 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA257787534 rs989813600 |
845 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA389014409 rs759408374 |
847 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389014406 rs1297856283 |
848 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7115437 rs373248520 |
851 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA389014326 rs1595056882 |
853 | T>N | No |
ClinGen Ensembl |
|
|
CA389014296 rs1278853240 |
855 | K>* | No |
ClinGen TOPMed |
|
|
CA257787477 rs200751191 |
855 | K>R | No |
ClinGen 1000Genomes |
|
|
CA7115435 rs769040256 |
856 | E>G | No |
ClinGen ExAC |
|
|
rs747036926 CA7115434 |
857 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs115845031 CA257787454 |
860 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000520414 rs1025146248 CA389014225 |
860 | R>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs897907288 CA257787453 |
861 | I>F | No |
ClinGen Ensembl |
|
|
rs897907288 CA389014214 |
861 | I>V | No |
ClinGen Ensembl |
|
|
rs1359612380 CA389014175 |
863 | E>G | No |
ClinGen gnomAD |
|
|
CA389014164 rs1595056815 |
864 | T>A | No |
ClinGen Ensembl |
|
|
CA10587761 RCV000443085 rs886039171 RCV000244577 |
866 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389014142 rs1159890299 |
866 | E>Q | No |
ClinGen gnomAD |
|
|
CA134286 rs397516759 RCV000037459 |
867 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7115427 rs143284278 |
867 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147015593 CA257787429 |
868 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 870 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376682837 CA389014054 |
871 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA389014032 rs773162706 |
872 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7115423 rs768940302 |
874 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747237464 CA7115422 |
874 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456225633 CA389013985 |
876 | E>Q | No |
ClinGen gnomAD |
|
|
CA7115420 rs772029920 |
877 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746006714 CA7115419 |
879 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1595056756 CA389013863 RCV000995133 |
883 | L>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs749609972 CA7115416 |
886 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs778127543 CA7115415 |
888 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs267603952 CA257787386 |
888 | D>N | No |
ClinGen Ensembl |
|
|
rs1462413168 CA389013679 |
893 | V>M | No |
ClinGen gnomAD |
|
|
rs1372933415 CA389013628 |
895 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1239824409 CA389013495 |
896 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 897 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389013441 rs1248370729 |
898 | D>G | No |
ClinGen gnomAD |
|
|
CA389013417 rs1458068063 |
899 | N>K | No |
ClinGen TOPMed |
|
|
rs753694050 CA7115387 |
900 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA389013370 rs1480844465 |
902 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1480844465 CA389013369 |
902 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs759822161 CA7115385 |
904 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA257787155 rs143928061 |
906 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7115381 rs527636904 |
906 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7115384 rs143928061 |
906 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257787133 rs1012627922 |
907 | C>* | No |
ClinGen TOPMed |
|
|
rs1234082079 CA389013261 |
907 | C>Y | No |
ClinGen gnomAD |
|
|
rs1327143086 CA389013214 |
908 | D>G | No |
ClinGen gnomAD |
|
|
rs748422422 CA7115379 |
910 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1006277876 CA257787132 |
914 | K>E | No |
ClinGen TOPMed |
|
|
rs1312659522 CA389013045 |
914 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA257787124 rs373721137 |
922 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371709369 RCV001529402 RCV000620482 CA257787122 |
923 | E>A | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
rs746669440 RCV000242145 CA10587762 |
924 | M>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1595056522 CA389012801 |
925 | N>T | No |
ClinGen Ensembl |
|
|
CA7115375 rs779908883 |
929 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs934343235 CA257787109 |
930 | D>E | No |
ClinGen TOPMed |
|
|
CA389012558 CA389012555 rs1172763882 |
934 | M>I | No |
ClinGen gnomAD |
|
|
CA389012575 rs1458111554 |
934 | M>V | No |
ClinGen TOPMed |
|
|
rs141704264 CA7115373 |
936 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA257787081 rs915854015 |
938 | L>P | No |
ClinGen Ensembl |
|
|
CA257787066 rs945851203 |
942 | K>M | No |
ClinGen Ensembl |
|
|
CA257787063 rs368912844 |
943 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7115369 rs368912844 |
943 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762386800 CA7115363 |
949 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389012238 rs1397463119 |
949 | C>G | No |
ClinGen TOPMed |
|
|
rs148234492 CA7115364 |
949 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 950 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360691146 CA389012179 |
951 | E>G | No |
ClinGen TOPMed |
|
|
CA257787024 rs375226438 |
954 | K>N | No |
ClinGen ESP TOPMed |
|
|
rs267603951 CA7115362 |
955 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA257787023 rs267603951 |
955 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs769049656 CA389012052 |
956 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs563126625 CA7115360 |
959 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 960 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389011969 rs1413359973 |
961 | L>P | No |
ClinGen gnomAD |
|
|
CA257787022 rs979786482 |
968 | K>N | No |
ClinGen Ensembl |
|
|
rs1472905250 CA389011724 |
973 | T>A | No |
ClinGen gnomAD |
|
|
rs201602951 CA257787016 |
974 | E>G | No |
ClinGen 1000Genomes TOPMed |
|
|
rs201602951 CA389011692 |
974 | E>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1417105810 CA389011667 |
975 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1185657827 CA389011643 |
976 | K>R | No |
ClinGen gnomAD |
|
|
rs1337547799 CA389011524 |
977 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1337547799 CA389011521 |
977 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7115340 rs141079114 |
977 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 980 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389011466 rs1291099380 |
980 | L>V | No |
ClinGen gnomAD |
|
|
CA389011440 rs1209268771 |
981 | T>I | No |
ClinGen TOPMed |
|
|
CA7115339 rs770465041 |
982 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA257786804 rs201008410 |
983 | E>G | No |
ClinGen 1000Genomes |
|
|
CA7115338 rs202028680 |
984 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1010176157 CA257786793 |
985 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1173628205 CA389011269 |
988 | D>E | No |
ClinGen Ensembl |
|
|
CA7115332 RCV002442133 rs779051645 |
992 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| TCGA novel | 993 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1191805240 CA389011097 |
996 | K>R | No |
ClinGen gnomAD |
|
|
rs764610385 CA7115330 |
997 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA257786723 rs112779419 |
998 | K>E | No |
ClinGen Ensembl |
|
|
rs1247833669 CA389011027 |
998 | K>R | No |
ClinGen gnomAD |
|
|
rs1204356388 CA389010976 |
1000 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA389010948 rs1436441510 |
1002 | Q>* | No |
ClinGen gnomAD |
|
|
CA389010911 rs1275535309 |
1003 | E>A | No |
ClinGen gnomAD |
|
|
rs199901927 CA389010900 |
1003 | E>D | No |
ClinGen 1000Genomes TOPMed |
|
|
CA389010892 rs143978652 |
1004 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1005 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1005 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1006 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7115327 rs774127327 |
1007 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1374346357 CA389010765 |
1008 | A>T | No |
ClinGen TOPMed |
|
|
rs762487059 CA7115324 |
1009 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1439920300 CA389010659 |
1012 | L>F | No |
ClinGen gnomAD |
|
|
CA389010591 rs1595056130 |
1014 | V>A | No |
ClinGen Ensembl |
|
|
rs772621912 CA7115323 |
1020 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA389010406 rs1595056112 |
1021 | S>R | No |
ClinGen Ensembl |
|
|
CA389010415 rs1595056114 |
1021 | S>T | No |
ClinGen Ensembl |
|
|
rs748082713 CA7115321 |
1023 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA389010383 rs1595056109 |
1023 | S>T | No |
ClinGen Ensembl |
|
|
rs923117228 CA389010331 |
1024 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1425889168 CA389010307 |
1025 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA389010282 rs1244161023 |
1026 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs746844081 CA7115318 |
1026 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1044563809 CA257786701 |
1029 | L>M | No |
ClinGen gnomAD |
|
|
CA389010224 rs1044563809 |
1029 | L>V | No |
ClinGen gnomAD |
|
|
rs757439631 CA7115316 |
1031 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs753895226 CA7115315 |
1032 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA257786676 rs746723491 |
1033 | V>A | No |
ClinGen Ensembl |
|
|
CA389010103 rs746723491 |
1033 | V>G | No |
ClinGen Ensembl |
|
|
CA389010081 rs777715855 |
1034 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7115313 rs756325929 |
1035 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1188592396 CA389009931 |
1036 | L>Q | No |
ClinGen gnomAD |
|
|
CA257786467 rs777995240 |
1038 | G>E | No |
ClinGen Ensembl |
|
|
rs1208402766 CA389009899 |
1038 | G>R | No |
ClinGen TOPMed |
|
|
CA389009861 rs1398042911 |
1039 | S>F | Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs560776256 CA7115295 |
1043 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781751934 CA7115294 |
1046 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA389009656 rs755565288 |
1047 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389009626 rs1465870581 |
1048 | M>K | No |
ClinGen gnomAD |
|
|
rs1248091182 CA389009605 |
1049 | D>N | No |
ClinGen gnomAD |
|
|
CA7115291 rs766657133 |
1051 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs532606047 CA257786406 |
1052 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565119867 CA257786381 |
1053 | A>T | No |
ClinGen gnomAD |
|
|
CA389009490 rs540893860 |
1055 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389009425 rs1435557002 |
1058 | E>G | No |
ClinGen TOPMed |
|
|
CA257786348 rs770216523 |
1059 | G>D | No |
ClinGen Ensembl |
|
|
rs727503237 RCV000151218 CA176952 |
1061 | L>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389009302 rs1566509689 |
1062 | K>Q | No |
ClinGen Ensembl |
|
|
CA7115280 rs773279964 |
1064 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs560965568 CA7115279 |
1066 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1245135546 CA389009207 |
1066 | E>V | No |
ClinGen gnomAD |
|
|
rs1054193737 CA257786314 |
1067 | S>N | No |
ClinGen Ensembl |
|
|
RCV000617526 rs777320756 CA7115278 |
1068 | I>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1283312830 CA389009071 |
1072 | E>Q | No |
ClinGen TOPMed |
|
|
rs375169402 CA7115277 |
1074 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1246067662 CA389008940 |
1076 | L>M | No |
ClinGen TOPMed |
|
|
rs371364790 CA7115276 |
1077 | Q>* | No |
ClinGen ESP ExAC TOPMed |
|
|
CA389008885 rs139368987 |
1079 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139368987 CA7115272 |
1079 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389007545 rs1555333894 RCV000619535 |
1081 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1412399168 CA389007411 |
1085 | K>E | No |
ClinGen gnomAD |
|
|
rs1022920167 CA257785432 |
1086 | E>G | No |
ClinGen Ensembl |
|
|
CA389007383 rs1271947861 |
1087 | F>V | No |
ClinGen gnomAD |
|
|
CA389007335 rs1595055441 |
1090 | N>S | No |
ClinGen Ensembl |
|
|
CA7115237 rs567433969 |
1092 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1092 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257785406 rs993052010 |
1094 | S>G | No |
ClinGen Ensembl |
|
|
rs751333990 CA389007270 |
1094 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA389007263 rs1184174539 |
1095 | K>M | No |
ClinGen gnomAD |
|
|
rs864309578 RCV000202697 CA248894 |
1095 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA7115235 rs762901493 |
1096 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7115233 rs150868324 |
1097 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257785357 rs376802694 |
1100 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7115231 rs775652096 RCV000485702 |
1100 | Q>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs140996984 CA7115229 |
1101 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1445428064 CA389007157 |
1103 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1104 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs727505164 CA185242 RCV000156637 |
1108 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1566509397 RCV000781632 CA389007043 |
1111 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7115208 rs375733891 |
1115 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758421298 CA7115205 |
1117 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1118 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750174797 CA7115204 |
1118 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389006744 rs750174797 |
1118 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7115203 rs765073193 |
1121 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1427532095 RCV000995129 CA389006682 |
1122 | E>D | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 1124 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170646537 CA389006629 |
1127 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs727505211 CA185396 RCV000156706 |
1128 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs28730771 CA389006593 |
1130 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs28730771 CA7115199 |
1130 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA257784304 rs906192401 |
1131 | R>G | No |
ClinGen TOPMed |
|
|
CA257784300 rs1045975287 |
1132 | A>V | No |
ClinGen Ensembl |
|
|
rs770181014 CA389006549 |
1133 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7115198 rs773660161 RCV000449563 |
1133 | K>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs748512359 CA7115196 |
1134 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA389006545 rs1276335714 |
1134 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1276335714 CA389006546 |
1134 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs776316587 CA7115195 |
1135 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA7115194 rs768443852 |
1135 | E>D | No |
ClinGen ExAC |
|
| TCGA novel | 1135 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1046030804 CA257784287 |
1135 | E>V | No |
ClinGen TOPMed |
|
|
CA389006499 rs1368246967 |
1138 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7115192 rs745801044 |
1138 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778761305 CA7115190 |
1140 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1142 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7115185 rs543585784 |
1143 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7115186 rs755209382 |
1143 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389006434 rs1158985058 |
1144 | E>K | No |
ClinGen gnomAD |
|
|
CA257784243 rs866895041 |
1147 | E>K | No |
ClinGen Ensembl |
|
|
CA7115181 rs765705891 |
1148 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs760399050 CA7115178 |
1150 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7115176 rs771683498 |
1151 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770799418 CA7115173 |
1153 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1288715863 CA389006304 |
1154 | E>G | No |
ClinGen gnomAD |
|
|
rs1363215993 CA389006289 |
1155 | A>V | No |
ClinGen TOPMed |
|
|
CA389006286 rs1378744560 |
1156 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs751768285 CA7115169 |
1158 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1456106460 CA389006255 |
1158 | A>V | No |
ClinGen gnomAD |
|
|
rs1414702550 CA389006251 |
1159 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1411186640 CA389006237 |
1160 | S>P | No |
ClinGen gnomAD |
|
|
CA389006213 rs1595053893 |
1162 | Q>H | No |
ClinGen Ensembl |
|
|
CA389006205 rs764540332 |
1163 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439017876 CA389006197 |
1164 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1466179689 CA389006203 |
1164 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1330256835 CA389006190 |
1165 | M>I | No |
ClinGen TOPMed |
|
|
rs1268631527 CA389006191 |
1165 | M>R | No |
ClinGen gnomAD |
|
|
rs542785668 CA7115162 |
1166 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV002337540 rs775248044 CA7115161 |
1167 | K>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA7115160 rs771879688 |
1169 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs975923796 CA257784172 |
1169 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1170 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595053845 CA389006154 |
1171 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 1171 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7115158 rs770838698 |
1172 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA257784118 rs944098136 |
1172 | E>V | No |
ClinGen TOPMed |
|
|
rs749180878 CA7115157 |
1173 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA7115156 rs777750123 |
1174 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA389006108 rs1424001627 |
1176 | M>T | No |
ClinGen gnomAD |
|
|
rs758572490 CA7115150 |
1178 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389006051 rs1266983460 |
1181 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA257784100 rs111916361 |
1183 | A>T | No |
ClinGen Ensembl |
|
|
rs112883817 CA7115147 |
1184 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs112883817 CA389006013 |
1184 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370052212 CA389006001 |
1185 | L>R | No |
ClinGen TOPMed |
|
|
CA7115144 rs753132634 |
1187 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767223211 CA257784094 |
1188 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7115142 rs767223211 |
1188 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367375061 CA389005951 |
1189 | A>V | No |
ClinGen gnomAD |
|
|
rs1386705472 CA389005937 |
1191 | A>S | No |
ClinGen gnomAD |
|
|
rs574066490 CA7115139 |
1192 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA389005886 rs1465037368 |
1196 | K>* | No |
ClinGen gnomAD |
|
|
rs941561970 CA257784005 |
1196 | K>R | No |
ClinGen Ensembl |
|
|
CA389005856 rs1431113578 |
1198 | H>D | No |
ClinGen gnomAD |
|
|
CA7115133 rs768560994 |
1198 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs369942086 CA389005845 |
1199 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369942086 CA7115131 |
1199 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779243528 CA7115130 |
1199 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7115126 rs756700108 |
1202 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7115125 rs753047012 |
1203 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233225064 CA389005767 |
1204 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7115122 rs766096733 |
1206 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1209 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396641952 CA389005672 |
1210 | D>N | No |
ClinGen gnomAD |
|
|
CA7115113 rs778007219 |
1214 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199911460 CA7115115 |
1214 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770068878 CA7115112 |
1216 | K>E | No |
ClinGen ExAC |
|
|
rs1207960765 CA389005573 |
1216 | K>T | No |
ClinGen TOPMed |
|
|
rs1595053640 CA389005494 |
1220 | E>A | No |
ClinGen Ensembl |
|
|
CA389005483 rs748655783 |
1220 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1220 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389005467 rs1251456263 |
1221 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1222 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1223 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755267212 RCV000176650 CA242683 |
1224 | S>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA7115108 rs751985684 |
1225 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389005296 rs1411329549 |
1230 | L>V | No |
ClinGen gnomAD |
|
|
CA389005275 rs1336002235 |
1231 | D>A | No |
ClinGen gnomAD |
|
|
CA7115106 rs758062295 |
1233 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA257783909 rs144761217 |
1233 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA7115105 rs750141267 |
1234 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA389005061 rs761360942 |
1241 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7115103 rs761360942 |
1241 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456615368 CA389005055 |
1241 | I>T | No |
ClinGen gnomAD |
|
|
CA257783891 rs761360942 |
1241 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7115082 rs760664428 |
1245 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs767409017 CA7115080 |
1250 | V>E | No |
ClinGen ExAC TOPMed |
|
|
rs1406827484 CA389003883 |
1251 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1251 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7115079 rs759454361 |
1252 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7115076 rs776789045 |
1256 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs768980444 CA7115075 |
1257 | Q>H | No |
ClinGen ExAC |
|
|
rs1476014957 CA389003738 |
1259 | N>S | No |
ClinGen gnomAD |
|
|
CA134350 RCV000037483 rs397516763 RCV000618700 |
1262 | R>C | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA389003654 rs544358806 |
1262 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs375819633 CA7115073 |
1263 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755639321 CA7115067 |
1268 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs777331087 CA7115068 |
1268 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7115065 RCV000658367 rs767603407 |
1270 | R>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs754780263 CA7115064 |
1272 | L>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000172027 rs200503588 CA237354 |
1273 | N>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1595053175 CA389003397 |
1276 | T>P | No |
ClinGen Ensembl |
|
|
CA389003377 rs1304053898 |
1277 | T>I | No |
ClinGen gnomAD |
|
|
CA389003387 rs1595053171 |
1277 | T>P | No |
ClinGen Ensembl |
|
|
CA257783420 rs998396110 |
1278 | Q>E | No |
ClinGen Ensembl |
|
|
CA389003360 rs1227827386 |
1278 | Q>H | No |
ClinGen TOPMed |
|
|
rs751426149 RCV000498759 CA389003352 |
1279 | R>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA7115062 rs200014711 |
1279 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772586397 CA7115056 RCV000219647 RCV002354608 |
1286 | N>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs774702449 CA7115055 CA7115054 |
1286 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs780857713 RCV001249425 CA7115032 |
1287 | G>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1224532574 CA389003098 |
1290 | A>T | No |
ClinGen gnomAD |
|
|
rs1372245953 CA389003075 |
1291 | R>W | No |
ClinGen gnomAD |
|
|
CA389003067 rs1566507814 |
1292 | Q>K | No |
ClinGen Ensembl |
|
|
rs34935550 CA389003005 |
1295 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1320389332 CA389002986 |
1296 | K>R | No |
ClinGen gnomAD |
|
|
CA389002953 rs368588052 |
1298 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1177022370 CA389002957 |
1298 | A>T | No |
ClinGen TOPMed |
|
|
rs1318793230 CA389002908 |
1301 | S>T | No |
ClinGen TOPMed |
|
|
CA7115020 rs1015940787 |
1305 | R>Q | No |
ClinGen gnomAD |
|
|
rs763328656 CA7115022 |
1305 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1226936252 CA389002748 |
1310 | Y>H | No |
ClinGen TOPMed |
|
|
rs1297586459 CA389002689 |
1312 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1316 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257783117 rs866414627 |
1317 | L>F | No |
ClinGen gnomAD |
|
|
CA389002523 rs1452786263 |
1321 | L>M | No |
ClinGen TOPMed |
|
|
CA257783087 rs879496385 |
1324 | E>D | No |
ClinGen gnomAD |
|
|
rs369949768 CA389002312 |
1330 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369949768 CA7114958 |
1330 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA389002301 rs1595052444 |
1331 | L>P | No |
ClinGen Ensembl |
|
|
rs756551140 CA7114956 |
1333 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA389002282 rs752258570 |
1333 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1036197497 CA257782465 |
1334 | A>V | No |
ClinGen Ensembl |
|
|
rs1204712548 CA389002249 |
1336 | Q>H | No |
ClinGen gnomAD |
|
|
CA389002231 rs1240739579 |
1338 | A>T | No |
ClinGen gnomAD |
|
|
CA389002223 rs1335874496 |
1338 | A>V | No |
ClinGen gnomAD |
|
|
CA389002216 rs766238876 |
1339 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7114951 rs762877435 |
1341 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1438187176 CA389002178 |
1342 | C>F | No |
ClinGen gnomAD |
|
|
rs1337248691 CA389002186 |
1342 | C>R | No |
ClinGen gnomAD |
|
|
CA389002140 rs1186966233 |
1346 | R>Q | No |
ClinGen gnomAD |
|
|
CA389002126 rs1245523411 |
1347 | E>G | No |
ClinGen gnomAD |
|
|
rs1442784785 CA389002131 |
1347 | E>K | No |
ClinGen gnomAD |
|
|
rs771192855 CA7114946 |
1349 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA7114945 rs771192855 |
1349 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA389002056 rs1350986089 |
1352 | E>V | No |
ClinGen gnomAD |
|
|
CA389002021 rs1177440228 |
1355 | A>T | No |
ClinGen TOPMed |
|
|
CA134379 rs397516767 RCV000037496 |
1355 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1159105498 CA389001998 |
1357 | A>T | No |
ClinGen gnomAD |
|
|
rs751281277 CA7114938 |
1357 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7114936 rs762503839 |
1358 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs765193057 CA7114934 |
1361 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749409049 CA7114928 |
1365 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1085307922 RCV000489332 CA389001874 |
1366 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 1370 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389001797 rs1468169152 |
1371 | A>T | No |
ClinGen gnomAD |
|
|
rs1032403992 CA257782333 |
1371 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1219794609 CA389001774 |
1372 | Q>R | No |
ClinGen gnomAD |
|
|
CA389001663 rs755359308 |
1376 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7114922 rs145611185 |
1379 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000513036 RCV002329211 CA7114920 rs199672166 CA7114919 |
1380 | D>E | No |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
|
rs1471592617 CA389001449 |
1383 | Q>H | No |
ClinGen TOPMed |
|
|
CA389001438 rs139265690 |
1384 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139265690 CA7114914 |
1384 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1386 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7114913 rs774673412 |
1386 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389001363 rs1409383122 |
1387 | E>D | No |
ClinGen gnomAD |
|
|
CA389001390 rs1303860344 |
1387 | E>K | No |
ClinGen gnomAD |
|
|
rs1595052121 CA389001312 |
1389 | E>A | No |
ClinGen Ensembl |
|
|
CA389001263 rs370600272 |
1390 | E>G | No |
ClinGen ESP TOPMed |
|
|
rs1475985417 CA389001288 |
1390 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA257782221 rs370600272 |
1390 | E>V | No |
ClinGen ESP TOPMed |
|
|
CA257782205 rs753638887 |
1392 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1393 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867125782 CA257780934 |
1396 | A>V | No |
ClinGen Ensembl |
|
|
CA388999727 rs1490254818 |
1397 | Q>* | No |
ClinGen gnomAD |
|
|
rs904103962 CA257780917 |
1401 | D>N | No |
ClinGen Ensembl |
|
|
CA7114844 rs769398160 |
1403 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1402924738 CA16622151 |
1403 | E>A | No |
ClinGen TOPMed |
|
|
rs918101481 CA257780897 |
1405 | A>T | No |
ClinGen Ensembl |
|
|
rs1171611972 CA388999518 |
1407 | E>K | No |
ClinGen Ensembl |
|
|
CA7114840 rs146172839 |
1411 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1411 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595051406 CA388999247 |
1417 | E>G | No |
ClinGen Ensembl |
|
|
CA7114838 rs758258271 |
1419 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA388999127 rs1479296388 |
1421 | H>Y | No |
ClinGen gnomAD |
|
|
CA388998975 rs1194099606 |
1427 | I>L | No |
ClinGen gnomAD |
|
|
CA388998959 rs767944859 |
1427 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388998934 rs1259189606 |
1428 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1321832222 CA388998908 |
1429 | D>E | No |
ClinGen gnomAD |
|
|
RCV000620842 rs755434984 CA7114832 |
1429 | D>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA7114829 rs772960346 |
1432 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs537640599 CA7114830 |
1432 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388998752 rs1335938482 |
1435 | E>Q | No |
ClinGen gnomAD |
|
|
rs746893658 CA7114825 |
1436 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7114826 rs746893658 |
1436 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1437 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1438 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7114823 rs745683537 |
1438 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA7114821 rs137983703 |
1440 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388998586 rs1239376937 |
1441 | A>D | No |
ClinGen gnomAD |
|
|
CA7114820 RCV002223231 RCV000622110 rs141534763 |
1442 | A>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1371415701 CA388998454 |
1446 | K>N | No |
ClinGen TOPMed |
|
|
rs766943407 CA7114818 |
1449 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs758643910 CA7114817 |
1449 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA7114815 rs764920377 |
1451 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388998286 rs776274375 |
1453 | K>N | No |
ClinGen TOPMed |
|
| rs1341369908 | 1454 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267606905 CA388998099 |
1457 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388998082 rs1403020452 |
1458 | W>R | No |
ClinGen TOPMed |
|
|
CA388997992 rs1324829636 |
1461 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1463 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7114779 rs755785767 |
1463 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs373897096 CA7114777 |
1464 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370412856 CA7114776 |
1464 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1566506610 | 1464 | E>TCP* | No | Ensembl | |
|
CA613317407 rs1324634285 |
1465 | S>* | No |
ClinGen gnomAD |
|
|
CA7114773 rs773067289 |
1466 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765011581 CA7114772 |
1466 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1274950434 CA388997802 |
1468 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs886628946 CA257780393 |
1470 | E>G | No |
ClinGen Ensembl |
|
|
CA388997699 rs1457877609 |
1473 | Q>R | No |
ClinGen gnomAD |
|
|
rs569501889 CA7114769 |
1474 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749826475 CA7114767 |
1475 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749826475 CA388997644 |
1475 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441481672 CA388997629 |
1476 | A>P | No |
ClinGen gnomAD |
|
|
CA7114766 rs778185611 |
1476 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7114764 rs780855004 |
1481 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7114763 rs754437314 |
1482 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA388997530 rs1415845199 |
1482 | E>G | No |
ClinGen gnomAD |
|
|
rs751085104 CA7114762 |
1483 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1478872389 CA388997482 |
1484 | F>L | No |
ClinGen Ensembl |
|
|
rs376316942 CA7114761 |
1485 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1241014712 CA388997314 |
1490 | Y>C | No |
ClinGen gnomAD |
|
|
rs1279525266 CA388997267 |
1492 | E>D | No |
ClinGen gnomAD |
|
|
rs1364111488 CA388997248 |
1493 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1382622446 CA388997200 |
1496 | H>Y | No |
ClinGen gnomAD |
|
|
rs1359397672 CA388997085 |
1501 | K>N | No |
ClinGen gnomAD |
|
|
CA7114749 rs773631723 |
1502 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388996948 rs1566506490 |
1504 | N>K | No |
ClinGen Ensembl |
|
|
rs372671573 CA7114747 |
1504 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199796162 CA257780261 |
1505 | K>E | No |
ClinGen 1000Genomes TOPMed |
|
|
CA7114744 rs779529542 CA7114745 |
1506 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1483447051 CA388996799 |
1508 | Q>R | No |
ClinGen gnomAD |
|
|
rs1194305191 CA388996468 |
1515 | T>I | No |
ClinGen TOPMed |
|
|
rs1265332889 CA388996441 |
1516 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1516 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1049240400 CA257780092 |
1517 | Q>H | No |
ClinGen Ensembl |
|
|
rs1398810232 CA388996398 |
1518 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs552954303 CA7114716 |
1519 | G>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7114715 rs777159953 |
1519 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA388996325 rs1426111127 |
1521 | G>E | No |
ClinGen TOPMed |
|
|
CA257780077 rs776900813 |
1522 | G>R | No |
ClinGen Ensembl |
|
|
CA388996272 rs1173978440 |
1523 | K>N | No |
ClinGen gnomAD |
|
|
CA388996241 rs558533091 |
1524 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1524 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs549773207 CA257780074 |
1526 | H>Y | No |
ClinGen Ensembl |
|
|
rs372327939 CA7114711 |
1529 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs745594593 CA7114710 |
1530 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1400535472 CA388996096 |
1531 | V>G | No |
ClinGen TOPMed |
|
|
CA388996118 rs1595050508 |
1531 | V>I | No |
ClinGen Ensembl |
|
|
CA7114708 rs201827489 |
1532 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000251942 CA10587760 rs886039002 |
1535 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA388996001 rs1400725018 |
1536 | E>K | No |
ClinGen gnomAD |
|
|
rs1469503364 CA388995974 |
1537 | V>M | No |
ClinGen gnomAD |
|
|
CA7114705 rs199881235 |
1539 | K>Q | No |
ClinGen 1000Genomes ExAC |
|
|
CA257780042 rs758534100 |
1541 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs758534100 CA7114704 |
1541 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765197548 CA7114702 |
1543 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA388995786 rs1318904765 |
1545 | A>S | No |
ClinGen TOPMed |
|
|
rs1239192578 CA388995778 |
1545 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1547 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257780012 rs762413105 |
1547 | E>G | No |
ClinGen Ensembl |
|
|
CA257779315 rs1012836005 |
1551 | A>D | No |
ClinGen gnomAD |
|
|
rs1012836005 CA388993440 |
1551 | A>V | No |
ClinGen gnomAD |
|
|
rs553761240 CA257779308 |
1554 | E>* | No |
ClinGen TOPMed |
|
|
rs553761240 CA257779313 |
1554 | E>Q | No |
ClinGen TOPMed |
|
|
CA388993292 rs148582147 |
1556 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388993228 rs1276524636 |
1558 | G>D | No |
ClinGen gnomAD |
|
|
rs746847582 CA7114669 |
1558 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA257779305 rs145724064 |
1559 | K>* | No |
ClinGen ESP |
|
|
CA7114667 rs757460903 |
1559 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1323541808 CA388993182 |
1560 | I>V | No |
ClinGen gnomAD |
|
|
rs749581457 CA7114666 |
1561 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs755230697 CA7114661 |
1563 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7114659 rs542799440 |
1566 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7114656 rs149771264 |
1568 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1195066266 CA388992730 |
1574 | I>F | No |
ClinGen gnomAD |
|
|
rs371067114 CA388992711 |
1575 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775263766 CA7114652 |
1576 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388992629 rs1333346577 |
1579 | A>P | No |
ClinGen gnomAD |
|
|
rs769723233 CA7114649 |
1581 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7114650 rs749493266 |
1581 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781492953 CA388992490 |
1582 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1050811589 CA257779175 |
1582 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA388992367 rs1566505816 |
1586 | E>V | No |
ClinGen Ensembl |
|
|
CA257779147 rs924929069 |
1587 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7114645 rs752070605 |
1588 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA388992298 rs1232596437 |
1588 | A>S | No |
ClinGen TOPMed |
|
|
CA7114643 rs544624250 |
1590 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs146095234 CA7114640 |
1594 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA257779060 rs201026560 |
1595 | V>A | No |
ClinGen 1000Genomes |
|
|
rs767351186 CA257779063 |
1595 | V>L | No |
ClinGen Ensembl |
|
|
CA388992010 rs1347214886 |
1596 | V>A | No |
ClinGen gnomAD |
|
|
rs1347214886 CA388991994 |
1596 | V>G | No |
ClinGen gnomAD |
|
|
rs958703816 CA257779057 |
1596 | V>L | No |
ClinGen Ensembl |
|
|
rs536807961 CA7114637 |
1598 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771806821 CA7114638 |
1598 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs536807961 CA388991963 |
1598 | S>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388991950 rs1333795071 |
1599 | L>M | No |
ClinGen gnomAD |
|
|
rs770068575 CA388991924 |
1600 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA388991890 rs1595049547 |
1601 | T>P | No |
ClinGen Ensembl |
|
|
rs1415720891 CA388991731 |
1607 | T>R | No |
ClinGen gnomAD |
|
|
RCV000619383 rs764543612 |
1608 | R>missing | No |
ClinVar dbSNP |
|
|
rs201683868 CA7114633 |
1608 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780726611 CA388991671 |
1610 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7114627 rs778368888 |
1612 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281167347 CA388991569 |
1616 | V>A | No |
ClinGen gnomAD |
|
|
CA388991565 rs1281167347 |
1616 | V>G | No |
ClinGen gnomAD |
|
|
rs372923261 CA7114623 |
1616 | V>M | No |
ClinGen ESP ExAC TOPMed |
|
|
rs141375292 CA7114622 |
1617 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766153681 CA7114621 CA7114620 |
1618 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7114617 rs536673067 |
1624 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388991356 rs1566505687 |
1627 | M>T | No |
ClinGen Ensembl |
|
|
rs1282121566 CA388991342 |
1628 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388991238 rs1595049456 |
1635 | N>T | No |
ClinGen Ensembl |
|
|
rs1291990603 CA388991171 |
1638 | A>T | No |
ClinGen TOPMed |
|
|
rs757613880 CA7114613 |
1639 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1473898354 CA388991126 |
1640 | E>A | No |
ClinGen gnomAD |
|
|
CA388991098 rs1242897954 |
1641 | A>V | No |
ClinGen TOPMed |
|
|
CA388991085 rs1487346307 |
1642 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs565763606 CA7114610 |
1646 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1321437452 CA388990971 |
1647 | S>N | No |
ClinGen TOPMed |
|
|
rs1321593074 CA388990941 |
1648 | L>P | No |
ClinGen gnomAD |
|
|
CA388990918 rs1219000315 |
1649 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1653 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767658491 CA7114583 |
1654 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA388990591 rs1487830665 |
1654 | D>V | No |
ClinGen TOPMed |
|
|
CA388990573 rs1237985482 |
1655 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1197066451 CA388990564 |
1656 | Q>* | No |
ClinGen gnomAD |
|
|
CA388990552 rs759724961 |
1657 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA388990535 rs566793615 |
1657 | I>M | No |
ClinGen gnomAD |
|
|
CA7114582 rs759724961 |
1657 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1454835157 CA388990518 |
1658 | Q>H | No |
ClinGen gnomAD |
|
|
rs382872 CA388990495 |
1660 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7114581 rs771357562 |
1661 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA388990492 rs771357562 |
1661 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7114579 rs773445582 |
1662 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200295909 CA257778654 |
1663 | V>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs374271404 CA257778619 |
1665 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA388990357 rs1250847290 |
1668 | D>G | No |
ClinGen gnomAD |
|
|
rs200884672 CA388990366 |
1668 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1371251453 CA388990307 |
1671 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7114570 rs752930427 |
1672 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1210895817 CA388990238 |
1673 | I>T | No |
ClinGen gnomAD |
|
|
rs534560839 CA7114568 |
1674 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766549147 CA7114567 |
1675 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA388990146 rs1029801287 |
1677 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA257778530 rs1029801287 |
1677 | E>Q | No |
ClinGen gnomAD |
|
|
rs765536879 CA7114564 |
1678 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs921540558 CA257778506 |
1679 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7114561 rs483352719 |
1679 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000087201 rs483352719 CA229102 |
1679 | R>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs147728632 CA7114560 |
1680 | N>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1595049020 CA388990084 |
1681 | N>T | No |
ClinGen Ensembl |
|
|
CA257778481 rs965520000 |
1686 | E>Q | No |
ClinGen TOPMed |
|
|
rs1019706262 CA257778474 |
1688 | E>G | No |
ClinGen TOPMed |
|
|
rs1421693475 CA388989975 |
1690 | L>P | No |
ClinGen gnomAD |
|
|
CA388989959 rs727504502 |
1691 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1351253627 CA388989904 |
1693 | V>E | No |
ClinGen gnomAD |
|
|
rs373457153 CA257778438 |
1693 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1698 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7114548 rs758526212 |
1699 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388989680 rs750888671 |
1700 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7114547 rs750888671 |
1700 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365969171 CA388989638 |
1702 | K>E | No |
ClinGen TOPMed |
|
|
rs1419664066 CA388989557 |
1704 | A>T | No |
ClinGen gnomAD |
|
|
CA388989500 rs1162323182 |
1705 | E>D | No |
ClinGen TOPMed |
|
|
rs760211456 CA7114542 |
1709 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA388989282 rs1195165940 |
1710 | E>V | No |
ClinGen gnomAD |
|
|
CA388989210 rs397516774 CA257778390 |
1712 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777682189 CA388989145 RCV000617485 |
1714 | R>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs777682189 CA7114538 |
1714 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000172018 rs140651265 CA237333 RCV002345586 |
1714 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1595048871 CA388989110 |
1715 | V>G | No |
ClinGen Ensembl |
|
|
CA257778324 rs936703258 |
1716 | Q>H | No |
ClinGen TOPMed |
|
|
rs747148998 CA7114536 |
1716 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780353974 CA7114534 |
1719 | H>R | No |
ClinGen ExAC |
|
|
rs889866809 CA257777755 |
1722 | N>D | No |
ClinGen Ensembl |
|
|
rs1360452748 CA388988720 |
1722 | N>S | No |
ClinGen gnomAD |
|
|
CA388988722 rs1360452748 |
1722 | N>T | No |
ClinGen gnomAD |
|
|
CA388988709 rs1373782211 |
1723 | T>P | No |
ClinGen gnomAD |
|
|
CA388988636 rs1304636038 |
1726 | I>N | No |
ClinGen gnomAD |
|
|
CA388988576 rs1329348058 |
1728 | Q>* | No |
ClinGen Ensembl |
|
|
rs1329348058 CA388988585 |
1728 | Q>E | No |
ClinGen Ensembl |
|
|
CA7114515 rs772321054 |
1728 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs375346484 CA7114514 |
1730 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000245547 rs886039114 |
1731 | K>missing | No |
ClinVar dbSNP |
|
|
CA7114513 rs757373258 |
1731 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA7114509 rs756380209 |
1735 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA257777730 rs1059854 VAR_030206 |
1737 | T>S | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 1739 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437586718 CA16622150 |
1741 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA388988091 rs1206864440 |
1743 | V>A | No |
ClinGen gnomAD |
|
|
CA388987993 rs1483830739 |
1747 | V>M | No |
ClinGen Ensembl |
|
|
rs1278049375 CA388987966 |
1748 | Q>* | No |
ClinGen gnomAD |
|
|
CA388987917 rs1400892365 |
1750 | C>G | No |
ClinGen TOPMed |
|
|
rs534138672 CA7114504 |
1752 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA257777697 rs142437308 |
1753 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1760 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257777654 rs200972499 |
1762 | T>A | No |
ClinGen 1000Genomes |
|
|
CA257777653 rs917672791 |
1762 | T>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1764 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA134469 RCV000037530 rs397516776 |
1766 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7114460 rs775263867 |
1769 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs369336248 CA388985592 |
1770 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369336248 CA7114459 |
1770 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA388985590 rs1566504629 |
1770 | E>V | No |
ClinGen Ensembl |
|
|
CA7114457 rs773330898 |
1773 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs769880184 CA388985511 |
1774 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA388985505 rs1327619656 |
1774 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7114456 rs769880184 |
1774 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs905038658 CA257776510 |
1775 | Q>K | No |
ClinGen Ensembl |
|
|
CA388985465 rs1418772558 |
1776 | D>H | No |
ClinGen gnomAD |
|
|
CA7114454 rs777220078 |
1779 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA388985390 rs777220078 |
1779 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1782 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780530605 CA7114452 |
1782 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7114451 rs758734120 |
1783 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA257776480 rs745473249 |
1783 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388985289 rs745473249 |
1783 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756736334 CA7114448 |
1784 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA257776460 rs756736334 |
1784 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs778458957 CA7114449 |
1784 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA7114446 rs777333999 |
1790 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA388985081 rs1174943828 |
1790 | Q>R | No |
ClinGen Ensembl |
|
|
rs756018853 CA7114445 |
1792 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA388985030 rs1218605343 |
1792 | I>V | No |
ClinGen gnomAD |
|
|
CA388984927 rs1595047790 |
1794 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 1796 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7114444 rs752680603 |
1797 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs759281871 RCV000597840 RCV002350424 CA7114442 |
1798 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA7114443 rs767251436 |
1798 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA388984671 rs144329079 |
1800 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1595047774 CA388984675 |
1800 | D>G | No |
ClinGen Ensembl |
|
|
CA7114441 rs765389629 |
1801 | E>K | No |
ClinGen ExAC |
|
|
rs776846094 CA7114439 |
1802 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7114438 rs768893054 |
1803 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772439467 CA7114435 |
1806 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388984397 rs368384248 |
1813 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA257776412 rs368384248 |
1813 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA257776411 rs924934077 |
1813 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777243612 CA7114431 |
1818 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1375850340 CA388984274 |
1819 | A>G | No |
ClinGen gnomAD |
|
|
rs1375850340 CA388984271 |
1819 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA388984269 rs111473291 |
1820 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7114428 rs150589765 |
1822 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1298835458 CA388984249 |
1822 | R>L | No |
ClinGen gnomAD |
|
|
rs150589765 CA388984251 |
1822 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs955177411 CA257776366 |
1823 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7114426 rs79143968 |
1825 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7114427 rs754742030 |
1825 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs200260229 CA7114423 RCV000845388 |
1826 | G>D | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
RCV001194288 rs202141059 |
1826 | G>R | No |
ClinVar dbSNP |
|
|
RCV000845470 CA7114425 rs202141059 |
1826 | G>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA7114424 rs200260229 |
1826 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760865481 CA7114422 |
1827 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1002518548 CA257776318 |
1830 | A>V | No |
ClinGen Ensembl |
|
|
CA7114419 rs367834703 |
1831 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1297982545 CA388984112 |
1832 | Q>H | No |
ClinGen TOPMed |
|
|
CA388984084 rs202132499 |
1834 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388984072 rs549746895 CA388984071 |
1835 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769228763 CA7114416 |
1836 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1836 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388984044 rs1566504467 |
1837 | E>D | No |
ClinGen Ensembl |
|
|
CA388984051 rs1323234454 |
1837 | E>Q | No |
ClinGen Ensembl |
|
|
rs747673552 CA388984034 |
1838 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388984040 rs1240851229 |
1838 | S>T | No |
ClinGen gnomAD |
|
|
rs747673552 RCV001760423 RCV001328469 |
1838 | S>W | No |
ClinVar dbSNP |
|
|
CA388984021 rs1353623792 |
1839 | V>A | No |
ClinGen gnomAD |
|
|
CA388984017 rs1353623792 |
1839 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1840 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7114411 rs758287541 |
1841 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7114412 rs779691136 |
1841 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA388983976 rs1185901693 |
1842 | M>I | No |
ClinGen TOPMed |
|
|
CA7114410 rs754070802 |
1842 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388983951 rs1420035939 |
1844 | K>* | No |
ClinGen TOPMed |
|
|
CA7114408 rs764413598 |
1845 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA388983926 rs539962427 |
1845 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1187966761 CA388983914 |
1846 | E>G | No |
ClinGen gnomAD |
|
|
CA388983922 rs1419432556 |
1846 | E>K | No |
ClinGen gnomAD |
|
|
CA7114406 RCV000995119 rs752718246 |
1847 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1486056525 CA388983894 |
1848 | R>H | No |
ClinGen gnomAD |
|
|
rs941651362 CA257776257 |
1849 | I>T | No |
ClinGen Ensembl |
|
|
rs887453569 CA257776255 |
1850 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA388983872 rs1233959906 |
1851 | E>K | No |
ClinGen gnomAD |
|
|
rs1412470584 CA388983837 |
1853 | T>A | No |
ClinGen TOPMed |
|
|
rs772795223 CA7114400 |
1854 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA7114399 rs769420961 |
1855 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257775569 rs542415393 |
1861 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1861 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388983385 rs1280908876 |
1862 | N>D | No |
ClinGen TOPMed |
|
|
CA7114341 rs544009955 |
1862 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1595046579 CA388983381 |
1862 | N>T | No |
ClinGen Ensembl |
|
|
CA257775562 rs1045668939 |
1864 | L>V | No |
ClinGen Ensembl |
|
|
CA7114336 rs749125458 |
1867 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA257775558 rs749125458 |
1867 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs768920762 CA7114334 |
1869 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA388983272 rs1469830047 |
1869 | L>V | No |
ClinGen gnomAD |
|
|
rs1476873799 CA388983249 |
1870 | V>A | No |
ClinGen TOPMed |
|
|
rs1476873799 CA388983247 |
1870 | V>G | No |
ClinGen TOPMed |
|
|
CA388983154 rs1390751455 |
1876 | K>N | No |
ClinGen TOPMed |
|
|
CA388983142 rs1595046532 |
1877 | V>G | No |
ClinGen Ensembl |
|
|
CA388983135 rs1404653750 |
1878 | K>E | No |
ClinGen gnomAD |
|
|
CA388983116 RCV000617897 rs1457647629 |
1879 | A>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs201552605 CA257775533 |
1881 | K>* | No |
ClinGen 1000Genomes |
|
|
CA7114329 rs779397173 |
1882 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199755234 CA7114327 |
1882 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388983009 rs1442362401 |
1885 | E>G | No |
ClinGen gnomAD |
|
|
rs767096302 CA388982974 |
1887 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767296506 CA7114307 |
1888 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs947393801 CA257775230 |
1888 | E>Q | No |
ClinGen TOPMed |
|
|
rs1415232837 CA388982011 |
1889 | E>D | No |
ClinGen gnomAD |
|
|
CA7114306 rs754739393 |
1889 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA388981954 rs1258355019 |
1892 | N>Y | No |
ClinGen Ensembl |
|
|
rs1186462290 CA388981925 |
1893 | T>A | No |
ClinGen gnomAD |
|
|
rs765849175 CA7114304 |
1897 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs397516778 CA134485 RCV000037536 |
1900 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs746154984 CA7114297 |
1902 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774468778 CA7114296 |
1903 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1220069281 CA388981687 |
1904 | E>G | No |
ClinGen Ensembl |
|
|
CA16042946 rs1057518591 RCV000413851 |
1904 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA388981525 rs1463159568 |
1911 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs746557077 CA7114293 |
1911 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA388981469 rs1408737257 |
1914 | I>N | No |
ClinGen gnomAD |
|
|
CA7114290 rs754649208 |
1915 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1454103331 CA388981437 |
1916 | E>Q | No |
ClinGen gnomAD |
|
|
CA7114289 rs751303420 |
1918 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539827027 CA257775203 |
1920 | N>S | No |
ClinGen Ensembl |
|
|
CA7114287 rs757873491 |
1923 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs368881214 CA257775190 |
1929 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs776405542 CA7114284 |
1930 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7114285 rs761796189 |
1930 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA257775179 rs563924147 |
1931 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1233371859 CA388981104 |
1931 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388980902 rs377133201 |
1935 | M>K | No |
ClinGen ESP TOPMed |
|
| rs768525215 | 1935 | M>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257775019 rs377133201 |
1935 | M>T | No |
ClinGen ESP TOPMed |
4 associated diseases with P13533
[MIM: 614089]: Atrial septal defect 3 (ASD3)
A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613251]: Cardiomyopathy, familial hypertrophic, 14 (CMH14)
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613252]: Cardiomyopathy, dilated, 1EE (CMD1EE)
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 614090]: Sick sinus syndrome 3 (SSS3)
The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. The lifetime risk of being diagnosed with sick sinus syndrome is higher for carriers of variant p.Arg721Trp than for non-carriers. .
Without disease ID
- A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. . Note=The disease is caused by variants affecting the gene represented in this entry.
- The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. The lifetime risk of being diagnosed with sick sinus syndrome is higher for carriers of variant p.Arg721Trp than for non-carriers. .
111 regional properties for P13533
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| ptm | EGF-type aspartate/asparagine hydroxylation site | 198 - 209 | IPR000152-1 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 275 - 286 | IPR000152-2 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 315 - 326 | IPR000152-3 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 353 - 364 | IPR000152-4 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 433 - 444 | IPR000152-5 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 471 - 482 | IPR000152-6 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 509 - 520 | IPR000152-7 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 547 - 558 | IPR000152-8 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 584 - 595 | IPR000152-9 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 622 - 633 | IPR000152-10 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 659 - 670 | IPR000152-11 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 697 - 708 | IPR000152-12 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 772 - 783 | IPR000152-13 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 810 - 821 | IPR000152-14 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 888 - 899 | IPR000152-15 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 926 - 937 | IPR000152-16 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 964 - 975 | IPR000152-17 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 1002 - 1013 | IPR000152-18 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 1040 - 1051 | IPR000152-19 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 1164 - 1175 | IPR000152-20 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 1202 - 1213 | IPR000152-21 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 1241 - 1252 | IPR000152-22 |
| domain | EGF-like domain | 24 - 63 | IPR000742-1 |
| domain | EGF-like domain | 64 - 102 | IPR000742-2 |
| domain | EGF-like domain | 105 - 143 | IPR000742-3 |
| domain | EGF-like domain | 144 - 180 | IPR000742-4 |
| domain | EGF-like domain | 182 - 219 | IPR000742-5 |
| domain | EGF-like domain | 221 - 258 | IPR000742-6 |
| domain | EGF-like domain | 260 - 296 | IPR000742-7 |
| domain | EGF-like domain | 298 - 336 | IPR000742-8 |
| domain | EGF-like domain | 338 - 374 | IPR000742-9 |
| domain | EGF-like domain | 375 - 413 | IPR000742-10 |
| domain | EGF-like domain | 415 - 454 | IPR000742-11 |
| domain | EGF-like domain | 456 - 492 | IPR000742-12 |
| domain | EGF-like domain | 494 - 530 | IPR000742-13 |
| domain | EGF-like domain | 532 - 568 | IPR000742-14 |
| domain | EGF-like domain | 570 - 605 | IPR000742-15 |
| domain | EGF-like domain | 607 - 643 | IPR000742-16 |
| domain | EGF-like domain | 645 - 680 | IPR000742-17 |
| domain | EGF-like domain | 682 - 718 | IPR000742-18 |
| domain | EGF-like domain | 720 - 755 | IPR000742-19 |
| domain | EGF-like domain | 757 - 793 | IPR000742-20 |
| domain | EGF-like domain | 795 - 831 | IPR000742-21 |
| domain | EGF-like domain | 833 - 871 | IPR000742-22 |
| domain | EGF-like domain | 873 - 909 | IPR000742-23 |
| domain | EGF-like domain | 911 - 947 | IPR000742-24 |
| domain | EGF-like domain | 949 - 985 | IPR000742-25 |
| domain | EGF-like domain | 987 - 1023 | IPR000742-26 |
| domain | EGF-like domain | 1025 - 1061 | IPR000742-27 |
| domain | EGF-like domain | 1063 - 1099 | IPR000742-28 |
| domain | EGF-like domain | 1104 - 1147 | IPR000742-29 |
| domain | EGF-like domain | 1149 - 1185 | IPR000742-30 |
| domain | EGF-like domain | 1187 - 1223 | IPR000742-31 |
| domain | EGF-like domain | 1225 - 1262 | IPR000742-32 |
| domain | EGF-like domain | 1264 - 1302 | IPR000742-33 |
| domain | EGF-like domain | 1304 - 1343 | IPR000742-34 |
| domain | EGF-like domain | 1345 - 1375 | IPR000742-35 |
| domain | EGF-like domain | 1375 - 1412 | IPR000742-36 |
| domain | Notch domain | 1418 - 1544 | IPR000800 |
| domain | EGF-like calcium-binding domain | 64 - 102 | IPR001881-1 |
| domain | EGF-like calcium-binding domain | 109 - 143 | IPR001881-2 |
| domain | EGF-like calcium-binding domain | 146 - 180 | IPR001881-3 |
| domain | EGF-like calcium-binding domain | 182 - 219 | IPR001881-4 |
| domain | EGF-like calcium-binding domain | 225 - 258 | IPR001881-5 |
| domain | EGF-like calcium-binding domain | 260 - 296 | IPR001881-6 |
| domain | EGF-like calcium-binding domain | 298 - 336 | IPR001881-7 |
| domain | EGF-like calcium-binding domain | 338 - 374 | IPR001881-8 |
| domain | EGF-like calcium-binding domain | 377 - 413 | IPR001881-9 |
| domain | EGF-like calcium-binding domain | 415 - 454 | IPR001881-10 |
| domain | EGF-like calcium-binding domain | 456 - 492 | IPR001881-11 |
| domain | EGF-like calcium-binding domain | 494 - 530 | IPR001881-12 |
| domain | EGF-like calcium-binding domain | 532 - 568 | IPR001881-13 |
| domain | EGF-like calcium-binding domain | 570 - 605 | IPR001881-14 |
| domain | EGF-like calcium-binding domain | 607 - 643 | IPR001881-15 |
| domain | EGF-like calcium-binding domain | 645 - 680 | IPR001881-16 |
| domain | EGF-like calcium-binding domain | 682 - 718 | IPR001881-17 |
| domain | EGF-like calcium-binding domain | 720 - 755 | IPR001881-18 |
| domain | EGF-like calcium-binding domain | 757 - 793 | IPR001881-19 |
| domain | EGF-like calcium-binding domain | 795 - 831 | IPR001881-20 |
| domain | EGF-like calcium-binding domain | 837 - 871 | IPR001881-21 |
| domain | EGF-like calcium-binding domain | 873 - 909 | IPR001881-22 |
| domain | EGF-like calcium-binding domain | 911 - 947 | IPR001881-23 |
| domain | EGF-like calcium-binding domain | 949 - 985 | IPR001881-24 |
| domain | EGF-like calcium-binding domain | 987 - 1023 | IPR001881-25 |
| domain | EGF-like calcium-binding domain | 1025 - 1061 | IPR001881-26 |
| domain | EGF-like calcium-binding domain | 1064 - 1099 | IPR001881-27 |
| domain | EGF-like calcium-binding domain | 1105 - 1147 | IPR001881-28 |
| domain | EGF-like calcium-binding domain | 1149 - 1185 | IPR001881-29 |
| domain | EGF-like calcium-binding domain | 1187 - 1223 | IPR001881-30 |
| domain | EGF-like calcium-binding domain | 1225 - 1262 | IPR001881-31 |
| domain | EGF-like calcium-binding domain | 1264 - 1302 | IPR001881-32 |
| domain | EGF-like calcium-binding domain | 1306 - 1343 | IPR001881-33 |
| domain | EGF-like calcium-binding domain | 1373 - 1412 | IPR001881-34 |
| repeat | Ankyrin repeat | 1827 - 1939 | IPR002110-1 |
| repeat | Ankyrin repeat | 1943 - 2041 | IPR002110-2 |
| domain | Notch, NOD domain | 1539 - 1595 | IPR010660 |
| domain | Notch, NODP domain | 1617 - 1677 | IPR011656 |
| conserved_site | EGF-like, conserved site | 230 - 252 | IPR013032-1 |
| conserved_site | EGF-like, conserved site | 347 - 367 | IPR013032-2 |
| conserved_site | EGF-like, conserved site | 579 - 599 | IPR013032-3 |
| conserved_site | EGF-like, conserved site | 729 - 749 | IPR013032-4 |
| conserved_site | EGF-like calcium-binding, conserved site | 182 - 207 | IPR018097-1 |
| conserved_site | EGF-like calcium-binding, conserved site | 260 - 284 | IPR018097-2 |
| conserved_site | EGF-like calcium-binding, conserved site | 456 - 480 | IPR018097-3 |
| conserved_site | EGF-like calcium-binding, conserved site | 532 - 556 | IPR018097-4 |
| conserved_site | EGF-like calcium-binding, conserved site | 682 - 706 | IPR018097-5 |
| conserved_site | EGF-like calcium-binding, conserved site | 911 - 935 | IPR018097-6 |
| conserved_site | EGF-like calcium-binding, conserved site | 1025 - 1049 | IPR018097-7 |
| conserved_site | EGF-like calcium-binding, conserved site | 1149 - 1173 | IPR018097-8 |
| conserved_site | EGF-like calcium-binding, conserved site | 1225 - 1250 | IPR018097-9 |
| domain | Notch, C-terminal | 2380 - 2445 | IPR024600 |
10 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. |
| muscle myosin complex | A filament of myosin found in a muscle cell of any type. |
| myofibril | The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism. |
| myosin complex | A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes. |
| 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. |
| sarcomere | The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
| stress fiber | A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
6 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. |
| myosin phosphatase activity | Catalysis of the reaction |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| adult heart development | The process whose specific outcome is the progression of the adult heart over time, from its formation to the mature structure. |
| ATP metabolic process | The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. |
| atrial cardiac muscle tissue morphogenesis | The process in which the anatomical structure of cardiac atrium muscle is generated and organized. |
| 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. |
| cardiac muscle contraction | Muscle contraction of cardiac muscle tissue. |
| cardiac muscle hypertrophy in response to stress | The physiological enlargement or overgrowth of all or part of the heart muscle due to an increase in size (not length) of individual cardiac muscle fibers, without cell division, as a result of a disturbance in organismal or cellular homeostasis. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| muscle contraction | A process in which force is generated within 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. |
| muscle filament sliding | The sliding of actin thin filaments and myosin thick filaments past each other in muscle contraction. This involves a process of interaction of myosin located on a thick filament with actin located on a thin filament. During this process ATP is split and forces are generated. |
| myofibril assembly | Formation of myofibrils, the repeating units of striated muscle. |
| regulation of ATP-dependent activity | Any process that modulates the rate of an ATP-dependent activity. |
| regulation of blood pressure | Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. |
| regulation of heart contraction | Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. |
| regulation of heart growth | Any process that modulates the rate or extent of heart growth. Heart growth is the increase in size or mass of the heart. |
| regulation of heart rate | Any process that modulates the frequency or rate of heart contraction. |
| regulation of the force of heart contraction | Any process that modulates the extent of heart contraction, changing the force with which blood is propelled. |
| sarcomere organization | The myofibril assembly process that results in the organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
| striated muscle contraction | A process in which force is generated within striated muscle tissue, resulting in the shortening of the muscle. 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. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope. |
| ventricular cardiac muscle tissue morphogenesis | The process in which the anatomical structures of cardiac ventricle muscle is generated and organized. |
| visceral muscle development | The process whose specific outcome is the progression of the visceral muscle over time, from its formation to the mature structure. |
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 |
| P10587 | MYH11 | Myosin-11 | Gallus gallus (Chicken) | 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 | |
| Q99323 | zip | Myosin heavy chain, non-muscle | Drosophila melanogaster (Fruit fly) | SS |
| P05661 | Mhc | Myosin heavy chain, muscle | Drosophila melanogaster (Fruit fly) | SS |
| A7E2Y1 | MYH7B | Myosin-7B | Homo sapiens (Human) | SS |
| P11055 | MYH3 | Myosin-3 | Homo sapiens (Human) | SS |
| P12882 | MYH1 | Myosin-1 | Homo sapiens (Human) | SS |
| P12883 | MYH7 | Myosin-7 | Homo sapiens (Human) | EV |
| P13535 | MYH8 | Myosin-8 | Homo sapiens (Human) | SS |
| Q9UKX3 | MYH13 | Myosin-13 | Homo sapiens (Human) | SS |
| Q9Y2K3 | MYH15 | Myosin-15 | Homo sapiens (Human) | SS |
| Q9Y623 | MYH4 | Myosin-4 | Homo sapiens (Human) | SS |
| Q9UKX2 | MYH2 | Myosin-2 | Homo sapiens (Human) | SS |
| P35580 | MYH10 | Myosin-10 | Homo sapiens (Human) | SS |
| P35749 | MYH11 | Myosin-11 | Homo sapiens (Human) | SS |
| P35579 | MYH9 | Myosin-9 | Homo sapiens (Human) | SS |
| Q7Z406 | MYH14 | Myosin-14 | Homo sapiens (Human) | SS |
| Q8VDD5 | Myh9 | Myosin-9 | Mus musculus (Mouse) | SS |
| Q5SX39 | Myh4 | Myosin-4 | Mus musculus (Mouse) | SS |
| P13542 | Myh8 | Myosin-8 | Mus musculus (Mouse) | SS |
| O08638 | Myh11 | Myosin-11 | Mus musculus (Mouse) | SS |
| A2AQP0 | Myh7b | Myosin-7B | Mus musculus (Mouse) | SS |
| Q61879 | Myh10 | Myosin-10 | Mus musculus (Mouse) | SS |
| Q91Z83 | Myh7 | Myosin-7 | Mus musculus (Mouse) | SS |
| Q6URW6 | Myh14 | Myosin-14 | Mus musculus (Mouse) | SS |
| P13541 | Myh3 | Myosin-3 | Mus musculus (Mouse) | SS |
| Q5SX40 | Myh1 | Myosin-1 | Mus musculus (Mouse) | SS |
| Q02566 | Myh6 | Myosin-6 | 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 |
| 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 |
| P02563 | Myh6 | Myosin-6 | Rattus norvegicus (Rat) | SS |
| P02566 | unc-54 | Myosin-4 | Caenorhabditis elegans | SS |
| P02567 | myo-1 | Myosin-1 | Caenorhabditis elegans | SS |
| P12844 | myo-3 | Myosin-3 | Caenorhabditis elegans | SS |
| P12845 | myo-2 | Myosin-2 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTDAQMADFG | AAAQYLRKSE | KERLEAQTRP | FDIRTECFVP | DDKEEFVKAK | ILSREGGKVI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AETENGKTVT | VKEDQVLQQN | PPKFDKIEDM | AMLTFLHEPA | VLFNLKERYA | AWMIYTYSGL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FCVTVNPYKW | LPVYNAEVVA | AYRGKKRSEA | PPHIFSISDN | AYQYMLTDRE | NQSILITGES |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GAGKTVNTKR | VIQYFASIAA | IGDRGKKDNA | NANKGTLEDQ | IIQANPALEA | FGNAKTVRND |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NSSRFGKFIR | IHFGATGKLA | SADIETYLLE | KSRVIFQLKA | ERNYHIFYQI | LSNKKPELLD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MLLVTNNPYD | YAFVSQGEVS | VASIDDSEEL | MATDSAFDVL | GFTSEEKAGV | YKLTGAIMHY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GNMKFKQKQR | EEQAEPDGTE | DADKSAYLMG | LNSADLLKGL | CHPRVKVGNE | YVTKGQSVQQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VYYSIGALAK | AVYEKMFNWM | VTRINATLET | KQPRQYFIGV | LDIAGFEIFD | FNSFEQLCIN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FTNEKLQQFF | NHHMFVLEQE | EYKKEGIEWT | FIDFGMDLQA | CIDLIEKPMG | IMSILEEECM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FPKATDMTFK | AKLYDNHLGK | SNNFQKPRNI | KGKQEAHFSL | IHYAGTVDYN | ILGWLEKNKD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PLNETVVALY | QKSSLKLMAT | LFSSYATADT | GDSGKSKGGK | KKGSSFQTVS | ALHRENLNKL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MTNLRTTHPH | FVRCIIPNER | KAPGVMDNPL | VMHQLRCNGV | LEGIRICRKG | FPNRILYGDF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RQRYRILNPV | AIPEGQFIDS | RKGTEKLLSS | LDIDHNQYKF | GHTKVFFKAG | LLGLLEEMRD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ERLSRIITRM | QAQARGQLMR | IEFKKIVERR | DALLVIQWNI | RAFMGVKNWP | WMKLYFKIKP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LLKSAETEKE | MATMKEEFGR | IKETLEKSEA | RRKELEEKMV | SLLQEKNDLQ | LQVQAEQDNL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| NDAEERCDQL | IKNKIQLEAK | VKEMNERLED | EEEMNAELTA | KKRKLEDECS | ELKKDIDDLE |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LTLAKVEKEK | HATENKVKNL | TEEMAGLDEI | IAKLTKEKKA | LQEAHQQALD | DLQVEEDKVN |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| SLSKSKVKLE | QQVDDLEGSL | EQEKKVRMDL | ERAKRKLEGD | LKLTQESIMD | LENDKLQLEE |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| KLKKKEFDIN | QQNSKIEDEQ | VLALQLQKKL | KENQARIEEL | EEELEAERTA | RAKVEKLRSD |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| LSRELEEISE | RLEEAGGATS | VQIEMNKKRE | AEFQKMRRDL | EEATLQHEAT | AAALRKKHAD |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| SVAELGEQID | NLQRVKQKLE | KEKSEFKLEL | DDVTSNMEQI | IKAKANLEKV | SRTLEDQANE |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| YRVKLEEAQR | SLNDFTTQRA | KLQTENGELA | RQLEEKEALI | SQLTRGKLSY | TQQMEDLKRQ |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| LEEEGKAKNA | LAHALQSARH | DCDLLREQYE | EETEAKAELQ | RVLSKANSEV | AQWRTKYETD |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| AIQRTEELEE | AKKKLAQRLQ | DAEEAVEAVN | AKCSSLEKTK | HRLQNEIEDL | MVDVERSNAA |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| AAALDKKQRN | FDKILAEWKQ | KYEESQSELE | SSQKEARSLS | TELFKLKNAY | EESLEHLETF |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| KRENKNLQEE | ISDLTEQLGE | GGKNVHELEK | VRKQLEVEKL | ELQSALEEAE | ASLEHEEGKI |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| LRAQLEFNQI | KAEIERKLAE | KDEEMEQAKR | NHQRVVDSLQ | TSLDAETRSR | NEVLRVKKKM |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| EGDLNEMEIQ | LSHANRMAAE | AQKQVKSLQS | LLKDTQIQLD | DAVRANDDLK | ENIAIVERRN |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| NLLQAELEEL | RAVVEQTERS | RKLAEQELIE | TSERVQLLHS | QNTSLINQKK | KMESDLTQLQ |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| SEVEEAVQEC | RNAEEKAKKA | ITDAAMMAEE | LKKEQDTSAH | LERMKKNMEQ | TIKDLQHRLD |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| EAEQIALKGG | KKQLQKLEAR | VRELEGELEA | EQKRNAESVK | GMRKSERRIK | ELTYQTEEDK |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| KNLLRLQDLV | DKLQLKVKAY | KRQAEEAEEQ | ANTNLSKFRK | VQHELDEAEE | RADIAESQVN |
| 1930 | |||||
| KLRAKSRDIG | AKQKMHDEE |