Q15746
SS
Gene name |
MYLK (MLCK, MLCK1, MYLK1) |
Protein name |
Myosin light chain kinase, smooth muscle |
Names |
MLCK , smMLCK , EC 2.7.11.18 , Kinase-related protein , KRP , Telokin [Cleaved into: Myosin light chain kinase, smooth muscle, deglutamylated form] |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4638 |
EC number |
2.7.11.18: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
Myosin light chain kinases (MLCK) are members of the family of Ca2+-calmodulin-dependent protein kinases. The autoinhibitory pseudosubstrate sequence was identified by sequence similarity with the chicken smooth muscle MLCK (P11799-2). The mutational changes of acidic residues in the catalytic core of the kinase domain, which may interact with the basic residues in the pseudosubstrate sequence, increased the catalytic activity of the kinase domain.
Autoinhibitory domains (AIDs)
Target domain |
1464-1719 (Protein kinase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
1604-1626 (Activation loop from InterPro)
Target domain |
1464-1719 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
1604-1626 (Activation loop from InterPro)
Target domain |
1461-1719 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1700 variants for Q15746
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2064882893 RCV001337529 RCV003150423 RCV001587355 |
3 | D>Y | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001237981 CA067577 RCV001751470 rs777696799 |
5 | K>N | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA354236813 RCV002327549 RCV001230272 rs1232197656 |
16 | S>F | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1048197599 RCV000703836 CA16622005 |
17 | L>F | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA073389 RCV000222218 RCV000755313 RCV001812230 rs28497577 VAR_057106 RCV002315653 |
21 | P>H | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001419212 RCV002372398 rs146297620 CA073466 |
23 | R>S | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs770959360 RCV002384366 RCV001303158 |
33 | P>S | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322511 rs760526212 CA066619 |
34 | A>T | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000659931 RCV002348140 rs767877538 CA066811 RCV000415627 RCV001753851 |
40 | R>Q | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10617014 RCV000298327 rs886057866 |
41 | N>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000465436 rs1060502537 CA16611342 |
48 | A>G | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA067424 rs369576521 RCV000769346 RCV000489357 RCV001851307 |
50 | A>V | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001056926 CA067438 rs759096954 |
51 | K>E | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001577928 rs767453947 RCV002499007 CA067594 RCV002313450 |
54 | G>E | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002313416 CA067644 rs768984022 RCV002531834 |
55 | R>Q | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002274080 CA067768 RCV000648734 RCV003155260 RCV002397280 rs776636237 RCV002483872 |
57 | R>W | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2063229998 RCV001063205 |
60 | P>A | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16611126 rs1060502532 RCV000457727 RCV002411479 |
60 | P>L | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA068044 RCV001590997 rs778259023 RCV000276037 |
63 | Q>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001569306 RCV000694950 RCV002485683 RCV002422522 rs779602599 CA068367 |
70 | G>R | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA068665 RCV002314886 RCV000548227 rs368413008 RCV001356273 |
76 | G>R | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs139000120 RCV001771926 CA068687 RCV000680577 RCV001236066 RCV000769345 |
77 | G>S | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001170680 CA068919 RCV002298878 RCV001299861 RCV002491484 RCV001563139 rs568619953 |
84 | G>S | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA354244665 rs368822172 RCV001150742 |
86 | R>G | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000727292 RCV001170679 rs138265409 RCV002265713 RCV000554596 CA069022 |
86 | R>Q | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000415686 rs368822172 CA069008 RCV000592069 RCV000311628 |
86 | R>W | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001078665 RCV000757535 CA069054 rs368325180 |
87 | G>E | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
RCV000809937 CA354244635 rs1285946380 RCV002495115 RCV003150351 |
88 | T>S | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002313433 CA354244381 rs756800370 |
97 | H>P | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002436436 RCV000476921 rs1060502535 CA074992 |
100 | D>N | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001703222 RCV000648733 RCV002449067 CA354244207 rs1345796517 |
102 | G>R | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2063223394 RCV001751625 RCV001323174 RCV002322244 RCV002476519 |
107 | E>K | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs146921745 CA069922 RCV001302451 RCV002451677 |
115 | R>C | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003155241 CA069990 RCV000585612 RCV000795823 rs141131535 |
115 | R>H | Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001315609 rs2063221778 |
120 | E>K | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA82952853 RCV000810397 rs1056087101 |
124 | E>D | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001343895 rs147840022 CA070860 |
128 | A>S | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs147840022 RCV001572878 RCV000456207 RCV002311139 RCV000613694 CA070854 |
128 | A>T | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_065570 RCV000242114 RCV000228521 rs143896146 RCV001812655 CA070867 RCV002500816 RCV001170678 |
128 | A>V | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001770220 RCV001000031 RCV000427577 RCV001795472 CA071055 RCV001579449 VAR_065571 RCV001170677 rs140148380 |
133 | Q>H | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 Megacystis, microcolon, hypoperistalsis syndrome Congenital aneurysm of ascending aorta [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001062998 rs2062808147 |
134 | P>A | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002314667 RCV000608983 rs9840993 RCV001778773 RCV000586763 CA024846 RCV000179991 |
147 | P>S | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 Megacystis, microcolon, hypoperistalsis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA072045 RCV002311130 RCV001089045 RCV001174833 rs201754358 |
152 | R>H | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16611339 rs368775754 RCV000472982 |
155 | I>L | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs368775754 CA072184 RCV000456784 |
155 | I>V | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA354241984 rs1560156324 RCV000691818 |
156 | W>* | Aortic aneurysm, familial thoracic 7 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000422448 CA072278 rs370158852 RCV003168654 RCV000475089 |
158 | E>D | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001812740 RCV000253654 RCV001000299 CA072380 RCV000769344 rs111256888 VAR_065572 |
160 | P>R | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000755687 CA072743 rs778050996 |
169 | R>* | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs758521431 RCV000811855 RCV001776025 CA072748 |
169 | R>Q | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs752679720 RCV000862846 CA072776 |
170 | V>A | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001170676 rs2062771575 |
175 | G>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002338761 RCV002500817 RCV000231427 rs375456836 RCV001093173 CA072999 |
175 | G>V | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000999541 CA073107 RCV003160157 rs761508149 |
179 | R>* | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1052930526 RCV001207705 CA82945467 |
179 | R>Q | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000414313 CA16042473 RCV000807946 rs1057518439 |
185 | T>S | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs762477499 RCV000648713 CA073242 |
187 | R>Q | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003133240 CA10617090 RCV002520074 RCV001052317 rs372482276 |
187 | R>W | Aortic aneurysm, familial thoracic 7 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002313458 RCV001230782 rs199736263 CA073251 |
190 | P>L | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 Variant assessed as Somatic; 0.0005234 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA354241607 rs1560155884 RCV000692261 |
190 | P>S | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002345625 rs794727880 RCV000694087 RCV000179990 CA024865 |
191 | Q>E | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs201835018 CA073339 RCV001798743 RCV000659933 RCV000498107 RCV000226549 |
198 | N>S | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA82944776 RCV001350991 RCV001762605 rs772426809 |
203 | P>L | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002358564 CA073352 RCV000539231 rs772426809 |
203 | P>Q | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs878855176 CA10582127 RCV000229422 |
204 | S>N | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs367649461 CA073374 RCV000456669 |
206 | R>L | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA073380 RCV000249352 rs756560698 RCV000659934 RCV001045808 RCV000520122 |
207 | V>M | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2062717894 RCV001348952 |
209 | V>* | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754479443 RCV002365408 RCV000551705 RCV001764311 CA073411 |
215 | M>V | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA073415 RCV001170675 RCV003117799 rs753350784 |
216 | Q>H | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA354240863 RCV000648716 rs1553824777 RCV003162958 |
217 | V>F | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000373689 CA073451 rs781483544 RCV001764310 |
228 | V>M | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA073455 RCV000792967 rs775485777 |
229 | G>E | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16611235 RCV001775810 rs55935214 RCV000473270 |
232 | T>M | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001146465 rs923797303 CA82944687 |
236 | V>M | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001323371 rs149407805 |
237 | N>K | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802893 CA354240647 rs1576794625 |
237 | N>S | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002482004 RCV001055812 rs771169789 CA073480 |
238 | G>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002369727 RCV000648768 rs137982786 RCV001569000 CA073488 |
239 | S>L | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001065428 RCV002505643 rs202126043 CA82944648 |
243 | S>L | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA073500 RCV000648739 rs202126043 |
243 | S>W | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001232993 rs2062712554 |
247 | E>missing | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA073670 RCV001812231 RCV002315654 VAR_040847 RCV000755314 rs3796164 RCV000215303 |
261 | V>A | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000795326 RCV002422444 CA073674 RCV000659938 rs755451013 |
267 | T>N | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2062594836 RCV001205654 |
279 | I>V | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000698556 CA073699 rs147770839 RCV002442485 RCV001546111 |
281 | K>R | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1560148831 RCV000698297 CA354240029 RCV002462038 |
282 | E>G | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002313429 CA073702 rs746464484 RCV001756008 |
282 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs150096018 CA073706 RCV002495060 RCV000798920 |
283 | S>L | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886057865 RCV001067042 CA10617086 |
287 | S>G | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000477311 rs545515041 RCV002374786 CA073736 |
301 | Q>* | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA354239907 rs545515041 RCV000696974 |
301 | Q>K | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001258154 CA354239880 rs1431655501 RCV002285466 |
305 | S>F | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs200143447 RCV002379935 RCV001244239 CA073806 |
328 | S>L | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1406169210 RCV001208715 |
329 | P>A | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002384388 RCV001312522 rs371825849 CA354239715 |
331 | T>K | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002481560 RCV001269252 CA073817 RCV001865535 rs371825849 RCV001170673 RCV000493211 |
331 | T>M | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 Variant assessed as Somatic; 4.62e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs568039936 CA073825 RCV002379541 RCV001049729 |
333 | P>L | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000648732 CA066596 rs757891156 |
335 | T>A | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000769342 RCV001082109 RCV000173911 RCV000680576 CA024817 rs35912339 RCV000757536 VAR_057107 |
336 | P>L | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA066617 RCV002440740 rs760242263 RCV000809493 |
337 | V>L | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001150630 rs2062585123 |
343 | S>G | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA82943023 RCV000541861 RCV002315005 rs961194527 |
343 | S>I | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs532659627 CA066644 RCV001170672 RCV001052945 RCV001772264 |
350 | A>T | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002487156 RCV001296974 rs202225055 RCV002311118 CA066673 |
359 | P>T | Variant assessed as Somatic; 0.0001386 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2062581349 RCV001751476 RCV001241656 |
368 | G>E | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354239468 rs1553822427 RCV002313420 |
374 | P>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003133553 RCV003163241 rs374894375 RCV000699844 CA066700 |
375 | A>T | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV002481333 RCV001704521 RCV002313130 RCV000457454 CA066709 rs11920433 |
378 | R>G | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_040849 RCV002311120 rs56378658 RCV000999540 CA066713 RCV000477018 |
378 | R>H | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs193921083 RCV000149329 CA024820 |
383 | P>L | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001338004 rs769450736 |
384 | T>I | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2062577743 RCV001230744 |
387 | P>T | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000552195 RCV002341409 rs771815695 RCV001290645 |
395 | V>missing | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553822326 RCV000659939 CA354239246 |
397 | K>E | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2062575448 RCV001052726 |
402 | R>K | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA066828 rs35436690 RCV000469893 VAR_040850 RCV002356474 |
405 | M>V | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA066831 rs199719143 RCV002311160 RCV000805986 RCV001565221 |
407 | G>C | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA82942906 rs199719143 RCV000526082 |
407 | G>S | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000691058 CA066843 rs776506361 |
409 | R>K | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001219375 rs2062572965 |
418 | S>N | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001569358 RCV002422369 RCV002477437 RCV000648722 rs377193216 CA066857 |
418 | S>R | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001280554 RCV000540936 RCV002420490 RCV001547759 CA066861 rs773391076 |
419 | K>Q | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1302739464 RCV001303813 |
424 | E>K | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002374380 RCV000229799 rs779309547 CA066872 |
424 | E>V | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA354238748 RCV000648715 rs1386279142 |
430 | T>S | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10617013 rs886057864 RCV000309567 RCV002379234 |
433 | F>L | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA066995 RCV001175605 RCV002558786 rs190877071 CA82942639 |
439 | G>R | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen 1000Genomes ExAC TOPMed gnomAD ClinVar NCI-TCGA dbSNP |
|
rs928811814 RCV001755964 CA82942637 RCV000578292 |
441 | P>S | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001812222 rs35156360 RCV003224226 RCV000232645 CA067000 VAR_040851 RCV002315643 RCV000217065 |
443 | P>S | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs35156360 CA066997 RCV001799052 RCV001220504 |
443 | P>T | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002313425 rs766381045 RCV000765704 CA067003 |
444 | E>K | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000555814 RCV002384203 CA067006 rs760407806 |
445 | V>G | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000466368 RCV001775811 RCV002480414 rs1064792964 |
450 | E>S | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746226982 RCV002480584 RCV001170671 RCV002559636 CA067036 |
454 | V>M | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001324252 rs1475351353 CA354238253 |
457 | Q>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002315068 CA067046 RCV001574782 rs147311651 RCV002477358 RCV001868128 |
459 | G>S | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000463774 CA16611149 rs1060502529 |
466 | D>N | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000226349 CA10582126 rs878855175 |
467 | A>G | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA354238097 rs1424304318 RCV001322281 |
467 | A>T | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs751748077 RCV002506236 RCV001299975 RCV000508515 RCV002395227 CA067073 RCV001575716 |
471 | Y>* | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA067086 RCV000472162 rs775483725 |
478 | R>Q | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs149802186 RCV001035412 CA067107 RCV002391092 RCV001553595 |
491 | N>S | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001697307 rs143010767 CA067114 RCV001779002 RCV000529711 RCV000680575 RCV000769341 |
492 | A>T | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA82942548 RCV002390617 RCV001811497 rs1052992526 RCV000807982 |
494 | G>A | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA354237689 rs1002989047 RCV000648723 |
494 | G>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001586008 rs1002989047 RCV001149128 CA82942553 RCV002497569 |
494 | G>S | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000358452 RCV000222054 CA067123 RCV000614418 RCV001778799 rs9833275 RCV000589856 |
496 | L>V | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 Megacystis, microcolon, hypoperistalsis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001798761 CA10587558 RCV002518735 rs886039189 |
499 | S>T | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA067132 RCV000544621 rs780888701 |
505 | E>K | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA067135 RCV000464435 rs77323602 RCV000424714 RCV001580016 RCV000769340 |
506 | R>G | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001170669 rs368575789 CA067204 |
510 | M>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA354235771 RCV001237682 rs1262457848 RCV003166476 |
522 | D>E | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001805222 rs375501508 RCV002313417 CA067224 |
524 | A>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2062268617 RCV001238493 |
529 | Q>E | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002313176 RCV000659940 rs199988497 RCV001721500 RCV000482145 CA067254 RCV000460571 |
537 | V>I | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA067261 RCV000489548 rs368509953 RCV000229195 |
538 | R>Q | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002388119 RCV002483871 RCV000648726 CA067256 rs55672414 |
538 | R>W | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs146724203 CA067283 RCV001400549 RCV000602126 |
544 | R>Q | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs552998417 RCV001089097 CA067279 RCV000827130 RCV000305847 |
544 | R>W | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA067381 RCV001220000 rs757770546 |
553 | P>L | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1410459876 CA354235511 RCV001214551 |
553 | P>S | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001367295 RCV002313421 RCV001775925 CA067393 rs143403855 |
557 | A>T | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
CA354235478 rs1272395846 RCV001146328 |
558 | R>C | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA067397 RCV001036006 RCV000769339 rs753464560 |
558 | R>H | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA067402 RCV000694561 rs765972446 |
562 | E>K | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000822735 rs1275836800 RCV001585762 CA354235443 |
564 | G>S | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000693227 rs370052625 RCV003151805 CA067413 |
565 | V>M | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002489059 RCV002402275 CA067428 RCV001561533 rs761639849 RCV000472490 |
575 | P>L | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000457297 CA16611227 rs749069560 RCV002313175 |
582 | T>N | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000769338 RCV002487568 rs374420141 CA067479 |
592 | V>A | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000529369 RCV002315006 rs758715543 RCV001528641 CA067491 |
596 | A>T | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001776121 CA067507 RCV001251292 rs766027720 RCV001146327 |
600 | V>I | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA067511 rs45477891 RCV002310949 RCV000648711 |
601 | H>P | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001069456 CA82934306 rs45477891 |
601 | H>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000546392 RCV002293454 rs751023438 CA067580 |
603 | K>E | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001069455 rs2061620897 |
618 | S>N | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000821823 CA067710 rs748628438 RCV002408986 |
622 | A>G | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA354234780 rs1439552576 RCV001060005 |
625 | F>L | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA067872 rs555029377 RCV000391508 |
651 | P>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001481772 RCV000869078 CA067881 RCV001255495 rs750686734 VAR_040853 |
652 | P>A | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001796131 CA067889 RCV002506404 rs761892127 |
652 | P>R | Aortic aneurysm, familial thoracic 7 Congenital aneurysm of ascending aorta [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001559463 RCV000648712 CA067893 rs142765858 RCV000769337 |
653 | E>K | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA067907 VAR_040854 RCV000680564 RCV000337416 RCV000757532 CA82929836 RCV000415658 rs138172035 RCV000420099 |
656 | W>C | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2061567604 RCV001314588 |
656 | W>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061567012 RCV001209895 |
660 | G>E | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354234514 RCV000648710 rs1553809100 |
664 | Q>* | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200273207 RCV001082057 CA067923 RCV000769336 RCV000214592 RCV001697219 |
664 | Q>R | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002418711 RCV001210316 rs2061566265 |
666 | S>L | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000558787 CA16604798 rs1057524740 RCV000441665 RCV002418340 |
670 | H>L | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001569565 RCV001084516 RCV002494665 CA067954 RCV002313961 RCV002229665 rs147008323 |
675 | G>R | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001798951 RCV002483870 CA067966 RCV000648719 rs144923036 RCV001508503 |
687 | P>L | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA354234352 RCV000689177 RCV002422486 rs144923036 |
687 | P>R | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000814496 RCV003166027 rs368417112 CA067981 RCV002493391 RCV000762385 |
690 | T>M | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA354234303 rs780052122 RCV000648735 |
695 | C>W | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001069216 CA068030 rs780949312 |
698 | W>L | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000534838 RCV002420491 CA068038 rs757524646 RCV001508502 |
699 | N>S | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000999796 RCV000769335 CA068060 rs142835596 VAR_040856 RCV000251900 RCV001573100 |
701 | A>T | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA068081 rs547322504 RCV002315916 RCV001860297 RCV000866251 |
705 | R>C | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA068085 RCV001065015 RCV002473189 RCV002418535 rs189505310 RCV002497459 |
705 | R>H | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA068101 RCV000425459 RCV001065127 RCV002480290 rs768134055 |
707 | Q>* | Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA024826 RCV001078482 RCV002415748 RCV000724560 rs201615936 |
707 | Q>R | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001325222 rs112537316 |
709 | V>L | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_040857 RCV000757531 RCV002315007 rs112537316 RCV001087472 CA068119 |
709 | V>M | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000494155 rs531232445 CA068127 RCV002314850 RCV001370965 |
711 | T>M | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs150936840 RCV002313418 RCV000648721 RCV002491329 RCV000762384 CA068219 RCV000735407 |
717 | D>N | Stroke Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000198643 RCV002315630 CA068222 rs150936840 |
717 | D>Y | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA068234 RCV000696245 rs776115724 |
722 | W>* | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA068248 RCV001086815 RCV000914206 RCV002313439 rs143468713 |
728 | R>C | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000430859 CA068253 RCV000648717 rs370154845 |
728 | R>H | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2061526429 RCV001205625 |
730 | V>L | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001823183 RCV001467051 RCV001269096 CA068309 rs145191000 RCV001170127 |
743 | A>T | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000535750 CA068346 rs774187263 |
754 | W>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002313436 rs763243524 RCV002274071 CA068360 |
764 | D>G | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs201806277 CA068374 RCV000697451 |
769 | E>K | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs372707781 RCV000658972 RCV001344096 RCV002442379 CA068395 |
776 | V>M | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs554791878 RCV002451444 CA068438 RCV002504242 RCV001207436 |
790 | G>S | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA354233538 RCV001055204 rs1229779040 RCV002479336 |
796 | L>V | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1435664878 RCV002313446 CA354232756 |
799 | R>Q | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA354232754 RCV000687502 RCV000521193 rs758697820 RCV002481738 RCV002431491 |
800 | V>F | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002497169 rs1477764878 RCV002060345 CA354232745 RCV000536683 |
802 | E>K | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1373697705 RCV000769334 CA354232736 |
803 | C>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001759842 RCV002445351 CA068535 RCV002480428 RCV001068068 rs372019566 |
805 | C>W | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA354232689 RCV000519486 rs1553805024 RCV001853660 RCV002456012 |
810 | M>K | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16611117 rs1060502538 RCV000468542 |
813 | N>K | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2061220448 RCV001202764 |
814 | S>G | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000477385 CA068568 RCV002525580 rs748575040 |
820 | P>S | Aortic aneurysm, familial thoracic 7 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002447202 RCV001241756 CA068619 rs745500351 RCV001751479 |
821 | R>Q | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002488740 rs150007422 RCV001580019 CA068574 RCV002450914 RCV000549158 |
821 | R>W | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA068647 RCV000461567 rs776358725 |
822 | G>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002508930 RCV000658971 RCV000467595 RCV001170124 RCV000581201 rs201332554 CA068662 |
825 | P>L | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 Marfan syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA354232571 RCV000494017 RCV002475973 RCV001325607 rs1131691270 |
827 | S>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000648749 CA068677 rs370190691 RCV002424494 RCV002499107 |
829 | E>K | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1560097299 CA354232544 RCV000693582 |
831 | L>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000648737 rs1553804523 CA354232540 |
832 | C>Y | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001307865 rs2061181685 |
834 | G>E | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001243836 rs754817817 CA068682 RCV002484349 |
834 | G>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA354232510 RCV000700541 rs1401139381 |
837 | G>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2061179969 RCV001305460 |
842 | G>missing | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000211453 RCV000222439 CA068704 RCV001812217 RCV000463249 VAR_057108 rs3732485 RCV000243617 |
845 | R>C | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 6 Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002429305 RCV000364908 CA10614649 rs886057863 |
855 | A>V | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_019986 RCV002315644 rs3732486 CA068741 RCV000321956 RCV000215520 |
861 | L>P | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001300642 CA068751 rs760372891 |
862 | E>D | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA068746 RCV001856880 RCV000486423 rs770667051 |
862 | E>Q | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA024829 RCV002505118 rs587782966 RCV000143929 RCV000523278 RCV002311020 |
866 | G>S | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA82925497 rs989370486 RCV002424614 RCV000690206 |
867 | E>K | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000769333 CA068781 RCV000806447 rs749162097 |
869 | V>M | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001593226 RCV001055898 rs369503342 RCV002489644 CA068791 |
876 | R>C | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002533934 RCV003224419 rs537224715 RCV000768026 CA068797 |
876 | R>H | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10585973 RCV000239161 rs369503342 |
876 | R>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs34542174 CA068811 RCV001052194 |
877 | V>L | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs34542174 RCV002314013 CA068805 RCV000351703 VAR_057109 RCV000648725 |
877 | V>M | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA068837 RCV001304204 rs140989388 |
886 | A>V | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs528507616 RCV000690992 RCV000480103 CA068852 RCV002466518 |
888 | R>H | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001591255 CA068889 rs145507832 RCV002431672 RCV000659941 RCV000555496 |
898 | R>Q | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000531551 RCV001540287 RCV002431673 CA068897 rs765778763 |
901 | L>V | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002539961 rs773956836 RCV000871272 CA068938 |
911 | S>L | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_019987 RCV000361525 rs3732487 RCV002315645 RCV000219186 CA068964 |
914 | D>E | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs544456463 RCV002440469 RCV000694445 CA068959 |
914 | D>G | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs561148360 RCV001037798 |
914 | D>H | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA068955 rs561148360 RCV000544003 RCV000769332 |
914 | D>N | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000818233 CA069000 rs202223681 RCV002433998 RCV002495165 |
921 | E>K | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2061162156 RCV001299744 |
923 | M>I | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000304408 RCV000232894 rs766824318 RCV001775703 CA069004 |
926 | R>C | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000688684 CA069013 rs756465340 |
926 | R>H | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000406308 rs886057862 CA10614644 |
927 | A>T | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553803967 RCV002438545 CA658796360 RCV000599478 |
931 | R>M | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000700586 rs1359230351 CA354231281 |
935 | P>L | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs886057861 RCV000405407 CA10617009 RCV003150190 |
943 | R>S | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1200981327 RCV000659942 RCV000648730 CA354231128 RCV003162959 |
946 | H>Q | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA069081 rs200536833 RCV001315395 RCV002438708 |
950 | Q>P | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs971096950 RCV002434442 CA354231032 RCV001038631 |
952 | D>N | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs749847711 RCV002483733 CA069092 RCV000688485 RCV002313411 |
954 | R>C | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs756451726 CA069100 RCV000659943 |
955 | S>T | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA354230861 rs201266960 RCV000797912 |
962 | T>S | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002482279 rs201711566 RCV001146203 CA069132 |
967 | V>M | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA354230753 rs1199429329 RCV000816341 |
971 | V>M | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002440341 rs760450984 CA069141 RCV000648754 |
973 | P>L | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000292530 CA069157 rs368229473 RCV001753805 RCV002314068 RCV002488739 |
979 | P>L | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002481881 CA82924997 rs879643674 RCV001040715 RCV002553070 |
980 | D>E | Aortic aneurysm, familial thoracic 7 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1391074220 CA354230480 RCV001204048 |
992 | P>S | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA069213 rs756054110 RCV002480412 RCV000469767 RCV001753893 |
995 | N>D | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA069222 rs761654890 RCV001038853 |
996 | G>D | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs764348039 CA069236 RCV001316825 RCV002438713 |
999 | S>I | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV002313415 rs1382043515 CA354230267 RCV001296555 |
1007 | A>V | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs747305438 CA069275 RCV001048924 |
1008 | V>M | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000680572 RCV002440340 RCV003128678 CA069283 rs200423083 RCV000648740 |
1011 | S>F | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002313435 rs377568543 CA82924821 |
1018 | Q>* | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV002313428 RCV001063694 CA82924816 rs200041144 |
1021 | G>A | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs778578954 RCV001584442 RCV000648741 CA069297 RCV002313414 |
1026 | V>M | Variant assessed as Somatic; 4.624e-05 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001555351 rs1302330903 RCV001871695 CA354230093 |
1029 | A>T | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000687201 rs763247566 RCV001592867 CA069355 |
1038 | M>V | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002480415 RCV000472877 rs568590920 RCV001552695 CA16611146 |
1041 | A>T | Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002321888 RCV003129816 CA069381 RCV002494666 RCV000227860 rs777200220 |
1043 | P>A | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000692465 RCV002325384 RCV002477561 rs773540567 CA069405 RCV003156282 |
1045 | E>K | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000473213 RCV003114584 rs1060502533 CA16611145 |
1046 | T>I | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002478887 rs748997552 RCV002325586 RCV000812179 RCV002067397 CA069417 |
1058 | N>Y | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA069429 RCV000417348 RCV000648724 rs11558550 RCV000494597 |
1062 | A>S | Familial aortic aneurysms Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001697000 RCV001798893 RCV000544940 rs11558550 CA069425 |
1062 | A>T | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001514194 RCV000175378 rs75967604 RCV000288268 |
1066 | E>missing | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002232088 CA069438 RCV000557324 rs148033472 |
1068 | K>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000464822 CA069481 RCV000609787 RCV002311219 RCV001701984 rs113491038 RCV002494796 RCV000680571 |
1081 | H>R | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003169550 RCV001331581 RCV001751645 rs762030142 RCV002476547 CA069496 |
1083 | G>E | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA354229742 rs772444197 RCV001226849 |
1083 | G>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs75370906 RCV002310800 CA069510 RCV001812225 VAR_065573 RCV000459681 RCV000223242 |
1085 | T>A | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000537895 rs1553803235 |
1089 | K>missing | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553803217 RCV002313449 |
1093 | S>missing | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1279342455 CA354229336 RCV001050023 |
1106 | D>H | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA354229153 rs1576620071 RCV000809528 |
1117 | L>P | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001243620 CA069611 RCV002504347 rs202025561 |
1132 | T>M | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1560092388 RCV000690170 CA354228596 |
1145 | I>V | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201251944 RCV003159891 CA069714 RCV001571755 RCV000558229 |
1155 | V>I | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs867887039 RCV002499008 CA82940447 RCV002313451 |
1158 | E>K | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001860401 CA354234981 rs1222534732 RCV002313455 |
1160 | A>V | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs758839208 RCV001775926 RCV002313445 RCV001055876 CA82940421 |
1176 | A>T | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000469933 rs372251565 CA069769 RCV003168815 |
1182 | S>F | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001046544 rs762850441 RCV001776102 CA069837 |
1189 | D>G | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA069856 RCV001551778 rs759317891 RCV002501091 RCV000807639 RCV002453814 |
1193 | S>R | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002480533 CA069872 RCV001144309 rs777876067 |
1203 | S>F | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000793618 CA069883 RCV002310920 RCV002487145 rs142421063 |
1204 | R>Q | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001797708 RCV000460022 CA069879 RCV000998134 RCV001170120 RCV002480198 rs151294221 |
1204 | R>W | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002458359 RCV000757529 RCV002536567 rs1026157995 CA82936197 |
1205 | R>S | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000659944 rs1406608470 CA354233506 |
1209 | S>C | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000688896 RCV002458214 rs368390254 CA354233484 CA069913 RCV001579632 RCV001823743 RCV002493164 |
1213 | V>L | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 [ClinVar, Ensembl] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000582875 RCV002502598 RCV000756401 rs368390254 RCV002313152 CA069908 RCV000472608 RCV000455436 VAR_065574 |
1213 | V>M | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 Atrial septal defect AAT7; unknown pathological significance [NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001537250 RCV000230546 rs370872760 RCV002313962 CA069993 |
1220 | A>V | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001220651 RCV002484200 rs766218230 CA070022 |
1228 | P>A | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002352072 CA070048 RCV000659946 RCV000800101 RCV002499137 rs774553050 |
1232 | P>L | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs113124819 RCV000770620 RCV001081723 RCV000253600 RCV000828385 CA070134 |
1236 | M>V | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2059732940 RCV001065860 |
1239 | Q>missing | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs141481369 CA070142 RCV002348786 RCV001234070 |
1250 | R>C | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001770215 RCV000466008 RCV002494685 CA070149 rs139817477 RCV000508092 RCV000238683 |
1250 | R>H | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10587554 RCV002310989 rs886039046 |
1252 | G>E | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002367908 rs1553788596 CA354230408 RCV000547683 |
1262 | T>A | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA070213 rs750286831 RCV002313443 |
1269 | C>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1382893400 RCV000648720 CA354230241 |
1275 | R>* | Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000466129 RCV000523772 rs564792567 CA070223 |
1275 | R>Q | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000648738 RCV002493030 CA82929153 rs956816227 |
1279 | Q>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553787823 RCV000508615 RCV001804175 |
1282 | E>missing | Megacystis, microcolon, hypoperistalsis syndrome Visceral myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001770553 rs765252740 RCV002499006 RCV002313431 RCV001369145 CA070346 |
1282 | E>K | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs766866941 CA070360 RCV000648709 |
1286 | V>M | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA354229452 RCV002363123 rs1576474081 RCV000815079 |
1288 | N>S | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA070376 RCV002313410 rs145953933 RCV000648736 RCV001566086 |
1290 | E>K | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2059660021 RCV001196705 |
1292 | G>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003224265 RCV000659949 CA070416 RCV000528252 RCV001718726 rs149530842 RCV001170118 |
1300 | A>T | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002526422 CA16611106 RCV000464329 rs201265306 |
1300 | A>V | Aortic aneurysm, familial thoracic 7 Variant assessed as Somatic; 4.62e-05 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001592806 RCV000648742 RCV002493031 CA070429 RCV002358855 rs368321325 |
1301 | R>C | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001213110 rs770980369 CA070433 RCV002356910 |
1301 | R>H | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000238856 CA10585972 rs758161864 |
1304 | H>N | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755117377 RCV000459888 CA070474 |
1306 | G>S | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002313007 RCV001433134 rs730880164 CA024840 RCV000157374 |
1328 | V>M | Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001812739 RCV001087491 CA070785 RCV000247458 RCV000770619 rs9844788 |
1329 | D>E | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000648714 rs1553785222 |
1335 | A>missing | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000548625 CA070829 rs749921840 |
1339 | C>F | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001218825 CA070845 RCV001756009 rs774223564 RCV002313434 |
1344 | R>Q | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001759623 RCV002501149 RCV000824129 rs141271656 CA070840 |
1344 | R>W | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001859102 rs2059420831 RCV001170116 |
1352 | W>L | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10614642 RCV001068468 rs886057859 |
1352 | W>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782967 RCV002483276 RCV000143930 CA024843 |
1360 | G>D | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 Variant assessed as Somatic; 4.62e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000765703 RCV002311157 rs886039143 CA10587556 |
1361 | S>N | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs747543921 CA070932 RCV002542981 RCV001813061 |
1365 | S>T | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2059418764 RCV001170115 RCV002497601 |
1369 | E>K | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003224340 RCV000576566 CA070976 RCV002330993 rs750002545 RCV001764694 |
1377 | T>M | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA070997 RCV002482073 RCV001063195 rs373683421 |
1385 | R>C | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs762795374 RCV003166007 RCV002477738 RCV000756398 CA071005 |
1385 | R>H | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765421400 RCV001324830 CA071015 |
1389 | F>V | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003117553 CA071037 rs146576868 RCV001869071 RCV000770618 |
1395 | L>P | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA071049 RCV000247366 RCV002313990 RCV001722352 VAR_065575 rs181663420 RCV000471565 |
1399 | E>K | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs748559781 CA071074 RCV000466538 RCV002051854 |
1403 | R>C | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1286895921 CA354227895 RCV000794517 |
1403 | R>H | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002331332 RCV001775955 rs755248772 CA071088 RCV000687623 |
1405 | R>C | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000463109 RCV001840576 CA071112 RCV002329061 rs751056847 |
1409 | V>M | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000457102 rs758305428 CA071125 |
1416 | S>G | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV002051882 rs776975714 CA071148 RCV001861883 RCV001174756 RCV000680570 |
1423 | T>M | Connective tissue disorder Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA071163 rs553263281 RCV001297100 |
1424 | V>I | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs746690413 RCV002494549 CA071326 RCV001788070 RCV000210887 |
1431 | P>L | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001224955 CA071341 rs771619672 |
1434 | E>G | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000469322 RCV000519483 RCV001358749 CA071483 rs146682969 RCV001170114 |
1446 | E>K | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002525244 RCV000519402 rs757392371 CA071495 |
1448 | D>V | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA071507 RCV000770617 rs41366751 RCV000756397 RCV002503964 RCV000441978 RCV001082752 |
1450 | R>Q | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002314067 CA071501 RCV001555323 RCV000868827 rs143258617 |
1450 | R>W | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2059118422 RCV001070214 RCV002327364 |
1451 | T>I | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553781315 RCV002313444 CA354227523 |
1456 | T>N | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1018778128 RCV002313459 CA82919725 |
1457 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553781304 CA354227512 RCV000515767 |
1458 | Q>* | Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_083423 | 1458 | Q>del | AAT7; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV002329060 RCV000460668 CA071541 rs766722671 |
1466 | I>T | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002327534 RCV001225143 rs761390691 CA071551 RCV002484221 |
1469 | R>K | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001798012 RCV000023045 rs387906782 CA024849 |
1480 | R>* | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA354227347 RCV002504481 rs1397757032 RCV002329264 RCV001314019 |
1480 | R>Q | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA354227306 RCV000515772 rs886229659 |
1487 | R>* | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 [NCI-TCGA, Ensembl, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000823879 rs369356239 CA071764 |
1487 | R>Q | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_083424 | 1487 | R>del | AAT7; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1576422965 CA354227280 RCV000855690 VAR_083425 |
1491 | A>S | Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 AAT7; decreases kinase activity [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA354227273 rs1214008612 RCV001341883 |
1492 | G>E | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1060502531 RCV000462848 |
1497 | A>missing | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002311117 CA10587551 rs574296889 |
1507 | R>Q | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
RCV001324842 rs142010566 CA071795 |
1507 | R>W | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000762380 CA354227123 rs1560012143 RCV002533905 |
1513 | M>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2059054614 RCV003155391 RCV001306592 RCV002341612 RCV002245956 |
1514 | N>D | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000467332 rs763880352 RCV000756399 CA071816 RCV000770616 |
1522 | V>A | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000805118 CA354227058 rs1576422561 |
1523 | Q>K | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002334481 rs776503378 CA071849 RCV000795827 |
1535 | V>I | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001854997 RCV002311211 CA10587552 rs886039186 |
1549 | R>C | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1114167363 RCV000490635 RCV000585062 CA354226199 |
1561 | E>Q | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001751517 RCV002069323 rs757766496 CA071992 RCV001251270 |
1567 | R>Q | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1060502534 RCV001205612 |
1572 | G>A | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16611326 rs1060502534 RCV002339167 RCV000460947 |
1572 | G>E | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA354226081 rs1399378417 RCV000687401 |
1577 | H>Q | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002313453 RCV001144191 rs755510742 CA072021 |
1582 | V>M | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA354226042 RCV000648728 rs1553778145 |
1583 | H>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1576401641 CA354226006 RCV000853341 VAR_040859 RCV002538875 |
1588 | P>L | Aortic aneurysm, familial thoracic 7 Inborn genetic diseases an ovarian mucinous carcinoma sample; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000208474 RCV002515546 rs763260112 CA072065 |
1597 | T>M | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001837465 rs730880165 CA024856 |
1602 | K>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000461486 rs1060502536 CA16611102 |
1605 | D>N | Aortic aneurysm, familial thoracic 7 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1309391189 CA354225851 RCV001258153 |
1612 | L>M | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs202177283 CA024859 RCV000157376 RCV002336347 RCV002515047 |
1615 | A>V | Aortic aneurysm, familial abdominal, 1 Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA072205 RCV002341196 rs76655666 RCV000506993 RCV002264948 RCV000648766 |
1628 | V>M | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs752526557 CA072230 RCV000471553 RCV002523318 RCV002480413 |
1639 | G>A | Aortic aneurysm, familial thoracic 7 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10587553 RCV000685958 RCV002311159 RCV003153546 RCV002479988 rs143900788 |
1639 | G>R | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002060786 RCV000658426 CA072224 RCV002534288 rs143900788 |
1639 | G>S | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2058709315 RCV001339000 |
1648 | G>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553774803 RCV000648718 CA354233372 |
1664 | D>E | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002507391 CA354233359 RCV001759535 RCV000803767 rs1361739212 |
1666 | D>G | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553774774 RCV000648727 |
1668 | E>missing | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767591736 RCV001341378 CA072388 |
1671 | A>V | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs150392984 RCV000694196 CA072433 |
1681 | D>Y | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002479268 rs140456660 RCV001042107 CA072437 |
1682 | D>N | Variant assessed as Somatic; 0.0 impact. Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA16611324 RCV000467734 rs1060502530 |
1707 | R>C | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1328179065 CA354233065 RCV000531919 RCV001755871 RCV001798894 |
1707 | R>H | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002341410 RCV001755872 RCV000544399 rs374662467 CA072576 |
1711 | T>M | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000768025 CA072572 RCV002343617 rs374662467 RCV003224418 |
1711 | T>R | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA072639 rs761266023 RCV000556798 |
1738 | K>N | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs886057858 CA10615089 RCV000277659 |
1742 | R>G | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA354232785 rs1226517649 RCV002313440 |
1746 | Q>P | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_065576 | 1754 | A>T | AAT7; 4-fold reduced affinity for calmodulin; decreased kinase activity compared to wild-type protein [UniProt] | Yes | UniProt |
|
rs759291796 RCV001507632 RCV002313424 RCV001860400 CA072739 |
1755 | I>T | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA024862 rs387906781 RCV000603875 RCV000023044 VAR_065577 |
1759 | S>P | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 (aat7) Aortic aneurysm, familial thoracic 7 AAT7; 7-fold reduced affinity for calmodulin; 6-fold decreased Vmax [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA354231611 RCV000537332 rs1337673131 |
1763 | M>V | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002343535 RCV000701486 RCV001575746 CA072770 rs149866482 |
1768 | S>G | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002348097 RCV002305482 rs748200926 RCV000363594 CA072784 |
1777 | P>S | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000463934 CA072906 RCV002489058 rs746213310 RCV002348319 RCV002291634 |
1792 | V>M | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA354231209 RCV000549815 rs1553770582 |
1793 | S>A | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1576311533 RCV000810757 CA354231196 |
1794 | Q>H | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001039118 rs2057663405 |
1803 | E>K | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000239136 RCV001034981 RCV002347942 rs139045748 RCV002469087 CA072941 |
1804 | K>N | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA354231039 rs1553770523 RCV002315067 |
1809 | P>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000659953 rs1007504430 CA82940111 |
1812 | S>F | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs142220417 RCV000457820 RCV000306545 CA072977 RCV001269125 RCV001597109 |
1814 | T>I | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002478905 rs369511530 RCV002345874 CA072980 RCV000817305 |
1816 | R>C | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002265686 CA072986 RCV000208152 RCV002517400 rs140636141 RCV002503823 |
1816 | R>H | Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs746327636 RCV001206619 RCV001776142 CA072995 RCV002480676 |
1817 | D>N | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000657149 RCV000557660 RCV000238608 RCV001192846 CA073013 rs147187907 |
1826 | A>V | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA354230825 RCV000533705 rs1302244958 |
1830 | C>S | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA354230826 rs1302244958 RCV001211864 RCV000757534 |
1830 | C>Y | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA82937788 rs918643720 RCV000770609 |
1837 | D>A | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1559957766 RCV000770608 CA354229571 |
1843 | F>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001055135 rs2057343514 |
1849 | I>missing | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs138364346 CA073097 RCV001295208 RCV003166641 |
1853 | R>C | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1559957355 CA354229113 RCV000705977 |
1863 | G>R | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA073167 RCV001343358 rs149339426 |
1884 | A>T | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV002543578 RCV001311608 rs2057335896 |
1887 | S>G | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001068958 CA073177 RCV002480434 rs368231398 |
1892 | T>I | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1553768575 CA354228503 RCV002313441 |
1899 | V>M | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001563573 RCV000706411 CA073202 rs200490629 |
1901 | T>M | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA354228478 rs1194619668 RCV002313457 RCV002531838 |
1902 | M>I | Familial thoracic aortic aneurysm and aortic dissection Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1576282420 RCV000818530 |
1913 | E>missing | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001306715 rs974109787 RCV002221624 |
1914 | E>missing | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1421911091 RCV001243462 CA354228394 |
1914 | E>G | Aortic aneurysm, familial thoracic 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1178879948 CA354237417 |
2 | G>E | No |
ClinGen gnomAD |
|
|
rs746869917 CA073729 |
3 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs544813700 CA82956182 |
7 | V>A | No |
ClinGen Ensembl |
|
|
CA82956195 rs908417992 |
7 | V>I | No |
ClinGen TOPMed |
|
|
CA354237345 rs1291689727 |
8 | A>V | No |
ClinGen TOPMed |
|
|
rs779148876 CA069134 |
9 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866120445 CA82956150 |
10 | S>P | No |
ClinGen Ensembl |
|
|
rs907838812 CA82956134 |
12 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754336184 CA073343 |
20 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA354236763 rs780654221 |
20 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199706302 CA82956105 |
21 | P>S | No |
ClinGen gnomAD |
|
|
CA354236741 rs1402959688 |
22 | S>L | No |
ClinGen gnomAD |
|
|
rs866621006 CA82956101 |
22 | S>P | No |
ClinGen Ensembl |
|
|
CA073444 rs767799002 |
23 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762603388 CA073457 |
23 | R>K | No |
ClinGen ExAC |
|
|
CA073471 rs764755866 |
24 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 27 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354236664 rs141974889 |
28 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141974889 CA073689 |
28 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1398096300 CA354236666 |
28 | P>S | No |
ClinGen TOPMed |
|
|
rs948848516 CA82956046 |
32 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770959360 CA073802 |
33 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs773146142 CA066623 |
34 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA066665 rs771936901 |
36 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA354236548 rs1238513303 |
38 | P>L | No |
ClinGen gnomAD |
|
|
CA354236550 rs1450674131 |
38 | P>S | No |
ClinGen TOPMed |
|
|
rs779238932 CA066762 |
39 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748404732 CA066740 |
39 | P>S | No |
ClinGen ExAC |
|
|
rs749436978 CA066794 |
40 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs756715403 CA066851 |
42 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA066876 rs750867972 |
43 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA354236482 rs1382060732 |
44 | I>F | No |
ClinGen gnomAD |
|
|
CA354236479 rs1287939071 |
44 | I>N | No |
ClinGen gnomAD |
|
|
rs1382060732 CA354236484 |
44 | I>V | No |
ClinGen gnomAD |
|
|
CA067230 rs781555652 |
46 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354236418 rs1276195216 |
49 | T>A | No |
ClinGen gnomAD |
|
|
rs1337572355 CA354236411 |
49 | T>I | No |
ClinGen TOPMed |
|
|
rs751888783 CA067421 |
50 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA067443 rs753454689 |
51 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA067497 rs376586087 |
53 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA82955921 rs376586087 |
53 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000478149 rs1553850067 |
54 | G>missing | No |
ClinVar dbSNP |
|
|
rs767453947 CA067599 |
54 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560224879 CA354236361 |
54 | G>R | No |
ClinGen Ensembl |
|
|
rs767453947 CA354236358 |
54 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA067648 rs768984022 |
55 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA067639 rs374679897 |
55 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369537401 CA067745 |
56 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776636237 CA82953203 |
57 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354245545 rs150006791 |
57 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150006791 CA067781 |
57 | R>Q | Variant assessed as Somatic; 4.694e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1161966043 CA354245516 |
58 | G>D | No |
ClinGen gnomAD |
|
|
rs1213091943 CA354245529 |
58 | G>R | No |
ClinGen TOPMed |
|
|
CA354245399 rs1376046700 |
62 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA82953178 rs868049580 |
63 | Q>* | No |
ClinGen Ensembl |
|
|
CA068096 rs758668206 |
64 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1048834570 CA82953140 |
72 | P>R | No |
ClinGen TOPMed |
|
|
CA068518 rs767065648 |
73 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1158598449 CA354244954 |
74 | T>I | No |
ClinGen TOPMed |
|
|
CA354244977 rs1576848461 |
74 | T>P | No |
ClinGen Ensembl |
|
|
rs757326668 CA068560 |
75 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs139000120 CA354244889 |
77 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780448822 CA82953125 |
77 | G>D | No |
ClinGen TOPMed |
|
|
CA068709 rs554364032 |
78 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA068722 rs537615379 |
78 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354244867 rs537615379 |
78 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1301337646 CA354244858 |
79 | F>L | No |
ClinGen gnomAD |
|
|
rs145163155 CA068857 |
82 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761219750 CA068926 |
84 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs368325180 CA069060 |
87 | G>A | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA074906 rs1576848161 |
87 | G>R | No |
ClinGen Ensembl |
|
|
CA82953034 rs150468557 |
89 | F>S | No |
ClinGen ESP TOPMed |
|
|
CA82953023 rs201064955 |
90 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs777718159 CA354244518 |
92 | V>L | No |
ClinGen Ensembl |
|
|
rs777718159 CA354244526 |
92 | V>M | No |
ClinGen Ensembl |
|
|
CA354244490 rs1576848036 |
93 | I>V | No |
ClinGen Ensembl |
|
|
rs140765516 CA069267 |
94 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1425700163 CA354244448 |
94 | H>R | No |
ClinGen TOPMed |
|
|
CA354244410 rs1162837317 |
96 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 97 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA069371 rs756800370 |
97 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111422191 CA069344 |
97 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs113345148 CA82952964 |
99 | E>G | No |
ClinGen Ensembl |
|
|
rs758300915 CA069514 |
102 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA069519 rs758300915 |
102 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA069584 rs765013146 |
105 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354244111 rs1576847825 |
105 | T>P | No |
ClinGen Ensembl |
|
|
CA354244038 rs1481405340 |
108 | A>D | No |
ClinGen gnomAD |
|
|
rs1481405340 CA354244036 |
108 | A>G | No |
ClinGen gnomAD |
|
|
CA069641 rs759813484 |
108 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs930800987 CA075034 |
109 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 111 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA82952911 rs112308574 |
112 | S>G | No |
ClinGen Ensembl |
|
|
CA354243940 rs1036536395 |
113 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA82952899 rs899338860 |
113 | G>S | No |
ClinGen Ensembl |
|
|
rs1036536395 CA82952892 |
113 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA069895 rs566501002 |
114 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566501002 CA069891 |
114 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354243910 rs141131535 |
115 | R>L | Aortic aneurysm, familial thoracic 7 (aat7) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1576847602 CA354243883 |
117 | V>G | No |
ClinGen Ensembl |
|
|
CA070192 rs774918942 |
119 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA070172 rs762311378 |
119 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs769125855 CA070365 |
122 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA070406 rs181962327 |
123 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA070401 rs781027090 |
123 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA070601 rs778852995 |
125 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs777272069 CA070545 |
125 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754859097 CA070621 |
126 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs757393078 CA070970 |
131 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82946102 rs912334368 |
132 | G>R | No |
ClinGen Ensembl |
|
|
rs1266921857 CA354242093 |
140 | L>F | No |
ClinGen gnomAD |
|
|
rs530193574 CA071557 |
140 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs545806868 CA071756 |
142 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 143 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA82945615 rs961652927 |
145 | S>P | No |
ClinGen TOPMed |
|
|
CA82945611 rs1019154992 |
146 | A>V | No |
ClinGen Ensembl |
|
|
CA354242040 rs9840993 |
147 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs9840993 CA354242041 |
147 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354242034 rs1285059118 |
148 | A>S | No |
ClinGen gnomAD |
|
|
CA82945579 rs1028014401 |
151 | T>I | No |
ClinGen gnomAD |
|
|
CA072036 rs559933360 |
152 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201754358 CA354242009 |
152 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA072030 rs559933360 |
152 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 153 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354242001 rs1347384459 |
154 | S>G | No |
ClinGen gnomAD |
|
|
rs1435726483 CA354241988 |
156 | W>G | No |
ClinGen Ensembl |
|
|
CA072213 rs146339915 |
156 | W>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA072209 rs146339915 |
156 | W>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA82945567 rs900244669 RCV001311610 |
157 | G>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
| TCGA novel | 158 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770373926 | 158 | E>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560156275 CA354241973 |
158 | E>V | No |
ClinGen Ensembl |
|
|
rs745692872 CA072416 |
161 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780786576 CA072550 |
164 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs747222944 CA072617 |
166 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA354241834 rs1560156097 |
171 | V>L | No |
ClinGen Ensembl |
|
|
CA354241826 rs1287886464 |
172 | V>I | No |
ClinGen gnomAD |
|
|
rs1457050076 CA354241804 |
173 | K>R | No |
ClinGen gnomAD |
|
|
CA354241762 rs1468699497 |
176 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA82945480 rs886972512 |
177 | M>T | No |
ClinGen Ensembl |
|
|
rs766646825 CA073089 |
178 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA82945473 rs761508149 |
179 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA073143 rs751187628 |
180 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 187 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354241641 rs1227541211 |
188 | P>T | No |
ClinGen gnomAD |
|
|
CA82945448 rs199736263 |
190 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354241576 rs1305192330 |
192 | V>A | No |
ClinGen gnomAD |
|
|
CA354241569 rs1384085430 |
193 | T>N | No |
ClinGen gnomAD |
|
|
rs1452902825 CA354241571 |
193 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 196 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1045045755 CA82945427 |
196 | K>R | No |
ClinGen Ensembl |
|
|
rs1161613379 CA354241083 |
198 | N>H | No |
ClinGen gnomAD |
|
|
rs1417208178 CA354241045 |
201 | L>Q | No |
ClinGen gnomAD |
|
|
CA073362 rs774545887 |
205 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA073366 rs557873884 |
206 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs367649461 CA073370 |
206 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1047996567 CA82944770 |
207 | V>A | No |
ClinGen gnomAD |
|
|
CA354240962 rs746239128 |
209 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746239128 CA073385 |
209 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781537195 CA073393 |
212 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA82944756 rs565762188 |
212 | K>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs146073242 CA073398 |
213 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354240913 rs1405635492 |
213 | N>S | No |
ClinGen gnomAD |
|
|
rs200452099 CA073408 |
214 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354240818 rs1400184897 |
221 | H>R | No |
ClinGen TOPMed |
|
|
CA073423 rs760622096 |
221 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773207592 CA073427 |
223 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 223 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354240788 rs1199973403 |
224 | N>D | No |
ClinGen gnomAD |
|
|
CA354240784 rs1481137931 |
224 | N>T | No |
ClinGen gnomAD |
|
|
CA073434 rs148174313 |
225 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774402313 CA073440 |
226 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA354240741 rs768879568 |
227 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354240736 rs781483544 |
228 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA354240725 rs1327435683 |
229 | G>R | No |
ClinGen gnomAD |
|
|
rs143755460 CA82944704 |
230 | V>E | No |
ClinGen ESP TOPMed |
|
|
CA354240716 rs1216837997 |
230 | V>L | No |
ClinGen TOPMed |
|
|
rs1216837997 CA354240717 |
230 | V>M | No |
ClinGen TOPMed |
|
|
rs1228803195 CA354240694 |
231 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA073469 rs746363506 |
235 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576794660 CA075516 |
235 | V>M | No |
ClinGen Ensembl |
|
|
rs753402124 CA073496 |
242 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA354240614 rs1576794471 |
243 | S>P | No |
ClinGen Ensembl |
|
|
rs1465816836 CA075569 |
244 | M>I | No |
ClinGen TOPMed |
|
|
rs1243493326 CA354240595 |
246 | A>G | No |
ClinGen gnomAD |
|
|
CA354240596 rs1560153349 |
246 | A>P | No |
ClinGen Ensembl |
|
|
CA354240588 rs1576794350 |
247 | E>G | No |
ClinGen Ensembl |
|
|
rs200664361 CA82944642 |
249 | S>P | No |
ClinGen Ensembl |
|
|
CA073508 rs750362610 |
250 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1463869206 CA354240565 |
251 | Q>R | No |
ClinGen gnomAD |
|
|
CA354240239 rs1345546689 |
252 | G>D | No |
ClinGen Ensembl |
|
|
CA82944620 rs1016351104 |
252 | G>S | No |
ClinGen Ensembl |
|
|
rs1180567416 CA354240229 |
254 | D>Y | No |
ClinGen gnomAD |
|
|
CA354240208 rs1338353278 |
257 | N>D | No |
ClinGen TOPMed |
|
|
CA073613 rs769728772 |
257 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354240180 rs1576782497 |
259 | S>A | No |
ClinGen Ensembl |
|
|
rs1295865769 CA354240146 |
264 | T>A | No |
ClinGen gnomAD |
|
|
rs1230154140 CA075667 |
266 | A>V | No |
ClinGen gnomAD |
|
|
rs755451013 CA82943137 |
267 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354240093 rs1434758586 |
272 | R>K | No |
ClinGen gnomAD |
|
|
CA354240069 rs1576782319 |
275 | V>G | No |
ClinGen Ensembl |
|
|
rs769572072 CA073679 |
275 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs55846245 CA82943131 VAR_040848 |
276 | T>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs745524804 CA073683 RCV000734959 |
277 | N>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1560148873 CA075627 |
280 | S>* | No |
ClinGen Ensembl |
|
|
rs776057038 CA073695 |
281 | K>Q | No |
ClinGen ExAC |
|
| TCGA novel | 283 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 290 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354239965 rs1461571982 |
292 | A>V | No |
ClinGen gnomAD |
|
|
rs555917795 CA073717 |
295 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755250257 CA073720 |
295 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354239945 rs755250257 |
295 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560148733 CA354239935 |
296 | N>K | No |
ClinGen Ensembl |
|
|
CA354239931 rs1339659597 |
297 | C>Y | No |
ClinGen gnomAD |
|
|
CA354239922 rs1296362728 |
298 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA354239921 rs1296362728 |
298 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1228126307 CA354239916 |
299 | S>N | No |
ClinGen gnomAD |
|
|
CA073726 rs754066107 |
300 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354239912 rs754066107 |
300 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145226837 CA82943092 |
303 | G>C | No |
ClinGen Ensembl |
|
|
CA073743 rs750416997 |
303 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs891551084 CA82943088 |
304 | G>A | No |
ClinGen Ensembl |
|
|
rs768147482 CA354239883 |
305 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768147482 CA073745 |
305 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762341440 CA073751 |
306 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445033215 CA354239876 |
306 | P>Q | No |
ClinGen gnomAD |
|
|
CA354239868 rs1576781744 |
308 | W>R | No |
ClinGen Ensembl |
|
|
rs752034973 CA073757 |
311 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA073767 rs759154392 |
314 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA82943081 rs953477300 |
315 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA354239815 rs1252688672 |
315 | Q>H | No |
ClinGen TOPMed |
|
|
rs1420834022 CA354239806 |
317 | P>S | No |
ClinGen TOPMed |
|
|
CA354239783 rs776381441 |
320 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA073771 rs776381441 |
320 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA354239781 rs1411016605 |
321 | K>E | No |
ClinGen TOPMed |
|
|
CA073776 rs770445862 |
322 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA354239773 rs1222748652 |
322 | L>Q | No |
ClinGen gnomAD |
|
|
CA075755 rs1267576944 |
323 | E>A | No |
ClinGen gnomAD |
|
|
rs140876214 CA073795 |
326 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA073797 rs748066216 |
327 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 328 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406169210 CA354239729 |
329 | P>S | No |
ClinGen gnomAD |
|
|
rs1392677319 CA354239718 |
331 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1412626791 CA354239708 |
332 | A>V | No |
ClinGen gnomAD |
|
|
rs764660783 CA066603 |
336 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA066613 rs760242263 |
337 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 338 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA073907 rs1269339128 |
339 | Q>* | No |
ClinGen gnomAD |
|
|
CA82943032 rs200322546 |
340 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA354239660 rs1485918605 |
341 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 341 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA82943027 rs140100605 |
342 | S>C | No |
ClinGen ESP TOPMed |
|
|
rs1417402864 CA354239641 |
344 | S>F | No |
ClinGen Ensembl |
|
|
rs1033877804 CA82943020 |
344 | S>T | No |
ClinGen gnomAD |
|
|
rs771547173 CA066632 |
345 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1321752866 CA354239631 |
346 | T>N | No |
ClinGen gnomAD |
|
|
CA354239610 rs1161362052 |
350 | A>E | No |
ClinGen gnomAD |
|
|
CA066648 rs532659627 |
350 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1455544873 CA354239604 |
351 | R>T | No |
ClinGen gnomAD |
|
|
CA82943008 rs968288078 |
352 | V>A | No |
ClinGen gnomAD |
|
|
CA066655 rs144222004 |
353 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144222004 CA066651 |
353 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs562370892 CA066658 |
354 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1478703518 CA073869 |
354 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354239574 rs1249031567 |
356 | P>Q | No |
ClinGen gnomAD |
|
|
CA354239568 rs1576780721 |
357 | R>K | No |
ClinGen Ensembl |
|
|
CA066669 rs781464628 |
357 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA82942998 rs994582240 |
358 | A>T | No |
ClinGen TOPMed |
|
|
CA066677 rs202225055 |
359 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215423858 CA354239555 |
360 | G>R | No |
ClinGen TOPMed |
|
|
CA82942990 rs750652861 |
362 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1347141367 CA354239545 |
362 | G>R | No |
ClinGen gnomAD |
|
|
rs753172836 CA066688 |
366 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA82942975 rs749312132 |
368 | G>R | No |
ClinGen Ensembl |
|
|
rs765507293 CA066694 |
369 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354239488 rs1432578650 |
371 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1345178107 CA354239481 |
372 | K>R | No |
ClinGen Ensembl |
|
|
CA354239472 rs1235562647 |
373 | R>S | No |
ClinGen TOPMed |
|
|
rs891504781 CA82942966 |
375 | A>V | No |
ClinGen TOPMed |
|
|
CA354239456 rs1451597389 |
376 | P>L | No |
ClinGen gnomAD |
|
|
rs767114476 CA066704 |
376 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354239448 rs11920433 |
378 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA82942958 rs866203144 |
379 | P>S | No |
ClinGen Ensembl |
|
|
CA066720 rs762792073 |
381 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463771280 CA354239415 |
384 | T>A | No |
ClinGen gnomAD |
|
|
CA066730 rs769450736 |
384 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA066736 rs777019877 |
385 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771223914 CA066744 |
388 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs747090338 CA066749 |
388 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 390 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA066766 rs748583667 |
391 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA354239336 rs1364126369 |
391 | S>N | No |
ClinGen gnomAD |
|
|
rs375747284 RCV001557071 CA066770 |
391 | S>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA066775 rs755365095 |
393 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA066788 rs759335530 |
396 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs754153075 CA066799 |
397 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA546175336 rs1166265494 |
397 | K>N* | No |
ClinGen gnomAD |
|
|
rs1448110341 CA354239228 |
398 | A>G | No |
ClinGen gnomAD |
|
|
CA354239219 rs1490320585 |
399 | A>P | No |
ClinGen gnomAD |
|
|
CA066803 rs767169659 |
399 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1560147363 CA354239193 |
401 | R>G | No |
ClinGen Ensembl |
|
|
CA354239189 rs1182989306 |
401 | R>K | No |
ClinGen gnomAD |
|
|
CA82942926 rs908614111 |
402 | R>S | No |
ClinGen Ensembl |
|
|
rs756832051 CA066815 |
403 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA82942919 rs1056978548 |
404 | P>L | No |
ClinGen gnomAD |
|
|
CA066820 rs751134054 |
404 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 405 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980918462 CA82942914 |
405 | M>T | No |
ClinGen gnomAD |
|
|
rs968237072 CA82942912 |
406 | E>D | No |
ClinGen Ensembl |
|
|
CA066840 rs759421606 |
408 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1230008907 CA074099 |
408 | Q>H | No |
ClinGen gnomAD |
|
|
CA82942901 rs947470085 |
410 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs947470085 CA354239059 |
410 | D>Y | No |
ClinGen TOPMed |
|
|
rs771346331 CA066846 |
414 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1226235946 CA354238987 |
415 | K>I | No |
ClinGen gnomAD |
|
|
rs1576779375 CA354238899 |
420 | P>R | No |
ClinGen Ensembl |
|
|
CA82942893 rs1008418840 |
421 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA066868 rs748217003 |
422 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 423 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1302739464 CA354238842 |
424 | E>* | No |
ClinGen gnomAD |
|
|
rs1407395670 CA354238835 |
424 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1560147023 CA354238833 |
425 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 429 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749657046 CA066886 |
431 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780388931 CA066891 |
432 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA354238671 rs1180342445 |
435 | C>Y | No |
ClinGen gnomAD |
|
|
rs1480418342 CA354238660 |
436 | E>K | No |
ClinGen gnomAD |
|
|
rs559196267 CA066980 |
437 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778260338 CA82942871 |
437 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778260338 CA067163 |
437 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354238427 rs1483332202 |
446 | A>S | No |
ClinGen gnomAD |
|
|
RCV000367757 rs886043581 CA10605684 |
447 | W>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA067013 rs767637137 |
448 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA354238368 rs1483625731 |
449 | L>R | No |
ClinGen gnomAD |
|
|
rs762090602 CA067017 |
450 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82942624 rs951341333 |
451 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1560145846 CA354238327 |
452 | T>I | No |
ClinGen Ensembl |
|
|
rs1560145846 CA354238331 |
452 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs763488992 CA067031 |
453 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs763488992 CA354238311 |
453 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs746226982 CA067039 |
454 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 455 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781619913 CA067042 |
456 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs369105428 CA067053 |
461 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369105428 CA067049 |
461 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA067055 rs376140363 |
462 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA067057 rs748756189 |
463 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs780152376 CA067059 |
464 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1388089555 CA354238140 |
464 | Y>F | No |
ClinGen gnomAD |
|
|
CA354238089 rs878855175 |
467 | A>V | No |
ClinGen gnomAD |
|
|
rs750251391 CA067064 |
468 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1274976522 CA354238062 |
469 | S>C | No |
ClinGen gnomAD |
|
|
rs1274976522 CA354238061 |
469 | S>F | No |
ClinGen gnomAD |
|
|
CA067070 rs757468352 |
470 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA354238045 rs1249952555 |
470 | H>Q | No |
ClinGen gnomAD |
|
|
CA354238050 rs757468352 |
470 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs767330046 CA067067 |
470 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354238034 rs1408463198 |
471 | Y>S | No |
ClinGen gnomAD |
|
|
rs1341622396 CA354238025 |
472 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA354238001 rs1469294273 |
473 | C>S | No |
ClinGen gnomAD |
|
|
rs200059795 CA067082 |
478 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs768369156 CA067091 |
480 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA354237884 rs1321268771 |
481 | D>G | No |
ClinGen TOPMed |
|
|
rs776913283 CA067094 |
481 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1370125857 CA354237873 |
482 | S>G | No |
ClinGen gnomAD |
|
|
rs1474632331 CA354237841 |
484 | T>A | No |
ClinGen gnomAD |
|
|
CA354237833 rs1251868701 |
484 | T>K | No |
ClinGen gnomAD |
|
|
rs1183961219 CA354237821 |
485 | Y>C | No |
ClinGen gnomAD |
|
|
CA067096 rs771299009 |
486 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA354237801 rs1249329726 |
486 | S>N | No |
ClinGen gnomAD |
|
|
rs964617197 CA82942566 |
487 | C>W | No |
ClinGen TOPMed |
|
|
CA067102 rs567572452 |
487 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354237754 rs1357423446 |
489 | A>V | No |
ClinGen gnomAD |
|
|
CA354237746 rs1267816965 |
490 | S>P | No |
ClinGen gnomAD |
|
|
CA354237706 rs1250859054 |
492 | A>V | No |
ClinGen TOPMed |
|
|
rs756058992 CA067117 |
493 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1052992526 CA354237680 |
494 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA354237657 rs9833275 |
496 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs890692103 CA82942541 |
496 | L>P | No |
ClinGen TOPMed |
|
|
rs1052053253 CA82942539 |
497 | S>F | No |
ClinGen gnomAD |
|
|
rs1387151764 CA354237634 |
498 | C>R | No |
ClinGen gnomAD |
|
|
rs1392609261 CA354237631 |
498 | C>Y | No |
ClinGen gnomAD |
|
|
CA354237560 rs1460837457 |
501 | T>I | No |
ClinGen gnomAD |
|
|
rs1250428351 CA354235975 |
506 | R>K | No |
ClinGen TOPMed |
|
|
CA82936627 rs866365679 |
508 | A>V | No |
ClinGen Ensembl |
|
|
CA067201 rs532203771 |
509 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354235944 rs1201059221 |
511 | E>K | No |
ClinGen gnomAD |
|
|
rs752889116 CA067206 |
513 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1187068090 CA354235843 |
518 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA354235797 rs1576750860 |
521 | K>T | No |
ClinGen Ensembl |
|
|
CA067233 rs775412425 |
528 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775412425 CA354235700 |
528 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354235683 rs1325399795 |
529 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 530 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA067240 CA067241 rs750871704 |
532 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA82936595 rs888258459 |
535 | C>F | No |
ClinGen Ensembl |
|
|
rs1373244382 CA354235619 |
535 | C>G | No |
ClinGen gnomAD |
|
|
rs867396042 CA354235611 |
536 | S>C | No |
ClinGen gnomAD |
|
|
rs867396042 CA82936589 |
536 | S>F | No |
ClinGen gnomAD |
|
|
rs1386419730 CA074249 |
539 | G>A | No |
ClinGen TOPMed |
|
|
rs776002181 CA067265 |
540 | T>N | No |
ClinGen ExAC TOPMed |
|
|
rs927903236 CA82936574 |
540 | T>S | No |
ClinGen TOPMed |
|
|
CA067269 rs770915351 |
541 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746927751 CA067272 |
542 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs777584787 CA067276 |
543 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1486660453 CA354235581 |
543 | P>S | No |
ClinGen gnomAD |
|
|
CA82936551 rs146724203 |
544 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000182570 rs779212460 CA024823 |
547 | W>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1212539612 CA354235560 |
547 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA354235549 rs1284646315 |
549 | L>P | No |
ClinGen gnomAD |
|
|
rs1164342090 CA354235524 |
551 | G>A | No |
ClinGen gnomAD |
|
|
rs1203451404 CA074342 |
551 | G>R | No |
ClinGen TOPMed |
|
|
rs1472920912 CA354235518 |
552 | Q>L | No |
ClinGen gnomAD |
|
|
rs1410459876 CA354235513 |
553 | P>T | No |
ClinGen gnomAD |
|
|
CA354235503 rs1268514829 |
554 | I>T | No |
ClinGen TOPMed |
|
|
rs143403855 CA354235485 |
557 | A>P | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1467105855 CA354235481 |
557 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753464560 CA067399 |
558 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354235471 rs1263021557 |
559 | S>F | No |
ClinGen TOPMed |
|
|
CA354235465 rs1318184098 |
560 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354235468 rs1576734595 |
560 | T>P | No |
ClinGen Ensembl |
|
|
CA354235442 rs1275836800 |
564 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA354235430 rs1457893640 |
566 | A>T | No |
ClinGen gnomAD |
|
|
CA354235427 rs1347040098 |
566 | A>V | No |
ClinGen gnomAD |
|
|
CA354235390 rs1426083751 |
572 | D>N | No |
ClinGen gnomAD |
|
|
CA354235368 rs761639849 |
575 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252356845 CA354235346 CA354235345 |
578 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA354235344 rs1221401063 |
579 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 579 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1576734230 CA354235338 |
580 | T>P | No |
ClinGen Ensembl |
|
|
CA354235334 rs1486583925 |
581 | Y>N | No |
ClinGen gnomAD |
|
|
CA067452 rs749069560 |
582 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354235326 rs768301658 |
582 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA067448 rs768301658 |
582 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs770081303 CA067461 |
585 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745946449 CA067466 |
586 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354235305 rs1369225594 |
586 | E>K | No |
ClinGen gnomAD |
|
|
CA354235293 rs1405684236 |
587 | N>I | No |
ClinGen TOPMed |
|
|
rs1383240101 CA354235284 |
589 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA067470 rs781409520 |
590 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA354235262 rs374420141 |
592 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757833198 CA067474 |
592 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA354235260 rs1576733954 |
593 | S>P | No |
ClinGen Ensembl |
|
|
CA354235252 rs1359974854 |
594 | C>Y | No |
ClinGen gnomAD |
|
|
CA82934334 rs370094325 |
595 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354235229 rs1189195616 |
597 | W>* | No |
ClinGen gnomAD |
|
|
CA354235235 rs1394217855 |
597 | W>R | No |
ClinGen gnomAD |
|
|
CA82934314 rs1028115288 |
598 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 603 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763941748 CA067584 |
606 | S>R | No |
ClinGen ExAC gnomAD |
|
| VAR_040852 | 607 | R>G | No | UniProt | |
|
rs752590947 CA354235140 |
609 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs752590947 CA067590 |
609 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1184218481 CA354235130 |
610 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1576676232 CA354235125 |
611 | Y>S | No |
ClinGen Ensembl |
|
|
CA067609 rs759366239 |
612 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA354235105 rs1233552558 |
614 | P>L | No |
ClinGen TOPMed |
|
|
CA067628 rs760679725 |
615 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA067634 rs773339888 |
616 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA354235098 rs773339888 |
616 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 617 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354235092 rs1269444079 |
617 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354235088 rs1576676110 |
618 | S>R | No |
ClinGen Ensembl |
|
|
CA354235079 rs1227570885 |
619 | K>E | No |
ClinGen TOPMed |
|
|
CA354235067 rs1198430684 |
621 | T>A | No |
ClinGen gnomAD |
|
|
rs748628438 CA067715 |
622 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA067725 rs779287040 |
623 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA354234767 rs1421288220 |
627 | Q>E | No |
ClinGen gnomAD |
|
|
rs1248832032 CA354234757 |
628 | G>D | No |
ClinGen gnomAD |
|
|
rs1249721390 CA354234752 |
629 | L>F | No |
ClinGen TOPMed |
|
|
rs780721129 CA067758 |
632 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA82930495 rs968409591 |
633 | K>* | No |
ClinGen TOPMed |
|
|
rs756867165 CA067761 |
633 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751096220 CA067772 |
637 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1420771021 CA354234680 |
640 | V>I | No |
ClinGen TOPMed |
|
|
rs1280428196 CA354234664 |
642 | M>T | No |
ClinGen gnomAD |
|
|
CA354234654 rs1276500410 |
643 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1305594540 CA354234631 |
647 | S>P | No |
ClinGen TOPMed |
|
|
rs938370233 CA82929881 |
649 | N>S | No |
ClinGen TOPMed |
|
|
CA82929877 rs151067308 |
650 | P>S | No |
ClinGen ESP |
|
|
rs1167725960 CA354234593 |
651 | P>S | No |
ClinGen gnomAD |
|
|
CA067885 rs761892127 |
652 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764652215 CA067897 |
653 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA067902 rs763435946 |
655 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354234574 rs763435946 |
655 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746172421 CA067919 |
659 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA067934 rs778558018 |
665 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA067930 rs144701244 |
665 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA067927 rs771785615 |
665 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA067937 rs755018151 |
667 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs779811725 CA067943 |
668 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749221243 CA067940 |
668 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA067947 rs755957947 |
669 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354234475 rs1057524740 |
670 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1422979473 CA354234468 |
671 | F>S | No |
ClinGen gnomAD |
|
|
CA354234460 rs1576669805 |
672 | E>A | No |
ClinGen Ensembl |
|
| TCGA novel | 673 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188684233 CA354234446 |
674 | R>K | No |
ClinGen gnomAD |
|
|
CA354234423 rs1209180365 |
677 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 677 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354234407 rs1173937190 |
679 | S>R | No |
ClinGen TOPMed |
|
|
CA067958 rs767729629 |
680 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA354234374 rs1275116499 |
684 | E>G | No |
ClinGen gnomAD |
|
|
rs1308191051 CA354234341 |
689 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs762903028 CA067974 |
689 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA067978 rs368417112 |
690 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA067988 rs776858093 VAR_040855 |
692 | T>M | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs761540073 CA067997 |
693 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA354234311 rs768309112 |
694 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs768309112 CA068004 |
694 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs769548990 CA068019 |
696 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 700 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA068052 rs758518392 |
700 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA068073 rs759950113 |
702 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA354234264 rs1292335344 |
702 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 703 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754306040 CA068078 |
704 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189505310 CA354234245 |
705 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354234243 rs1560109775 |
706 | T>P | No |
ClinGen Ensembl |
|
|
CA068110 rs774856925 |
708 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA82929152 rs886898229 |
714 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1195387502 CA354234197 |
714 | E>K | No |
ClinGen gnomAD |
|
|
rs574538830 CA82929149 |
715 | P>L | No |
ClinGen Ensembl |
|
|
rs764886832 CA068225 |
719 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA068236 rs766363451 |
722 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA354234134 rs1162378261 |
722 | W>R | No |
ClinGen TOPMed |
|
|
CA354234111 rs1485813457 |
725 | S>G | No |
ClinGen gnomAD |
|
|
CA068239 rs760586409 |
725 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA354234109 rs760586409 |
725 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs773102138 CA068244 |
727 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 729 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA068256 rs140381571 |
730 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA354234069 rs1218015517 |
732 | A>P | No |
ClinGen gnomAD |
|
|
rs1295332937 CA354234056 |
734 | L>Q | No |
ClinGen gnomAD |
|
|
rs759290582 CA2577970 |
735 | G>F | No |
ClinGen ExAC |
|
|
CA068276 rs780264881 |
735 | G>S | No |
ClinGen ExAC TOPMed |
|
|
rs746344193 CA068283 |
736 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA068299 rs781695158 |
738 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1463482979 CA354234028 |
739 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 739 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354233995 rs1386486112 |
744 | I>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1386486112 CA354233994 |
744 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778497684 CA068313 |
744 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs572885459 CA068317 |
745 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs572885459 CA068321 |
745 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765847503 CA068325 |
746 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760140685 CA068330 |
750 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs144740858 CA068337 |
752 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1343256623 CA354233910 |
757 | D>A | No |
ClinGen gnomAD |
|
|
CA354233877 rs1275325066 |
762 | C>S | No |
ClinGen gnomAD |
|
|
CA354233858 rs1242854332 |
765 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 766 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384782784 CA354233838 |
768 | F>L | No |
ClinGen gnomAD |
|
|
CA068378 rs770024825 |
770 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA354233821 rs1443338445 |
770 | V>M | No |
ClinGen TOPMed |
|
|
rs1330579297 CA354233801 |
773 | N>S | No |
ClinGen gnomAD |
|
|
CA068392 rs781555971 |
775 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA068403 rs778090693 |
778 | T>N | No |
ClinGen ExAC gnomAD |
|
|
RCV001194234 rs2061520061 |
780 | V>L | No |
ClinVar dbSNP |
|
|
CA354233742 rs1236952807 |
782 | K>N | No |
ClinGen gnomAD |
|
|
rs1178533247 CA354233734 |
783 | K>N | No |
ClinGen gnomAD |
|
|
CA354233729 rs1335952678 |
784 | V>A | No |
ClinGen TOPMed |
|
|
rs779637665 CA354233731 CA068418 |
784 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA068430 rs767418150 |
789 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA82928943 rs948204458 |
791 | Q>R | No |
ClinGen TOPMed |
|
|
rs1308502581 CA354233580 |
793 | E>K | No |
ClinGen gnomAD |
|
|
rs1365992021 CA354233556 |
794 | I>T | No |
ClinGen TOPMed |
|
|
CA068508 rs758281565 |
799 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1381611720 CA354232752 |
800 | V>A | No |
ClinGen gnomAD |
|
|
CA354232755 rs758697820 |
800 | V>I | No |
ClinGen TOPMed |
|
|
CA82926097 rs758697820 |
800 | V>L | No |
ClinGen TOPMed |
|
|
CA82926076 rs750090450 |
801 | G>D | No |
ClinGen Ensembl |
|
|
CA354232733 rs1195878670 |
803 | C>Y | No |
ClinGen gnomAD |
|
|
CA068540 rs776616400 |
806 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82926037 rs41271439 |
808 | S>L | No |
ClinGen Ensembl |
|
|
rs530951554 CA068546 |
809 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1199782961 CA354232683 |
811 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs773724805 CA068555 |
812 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 815 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354232637 rs1560098600 |
818 | A>T | No |
ClinGen Ensembl |
|
|
rs772504905 CA068564 |
818 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA068572 rs367856001 |
820 | P>L | No |
ClinGen ESP ExAC |
|
|
CA354232600 rs1464643333 |
823 | R>K | No |
ClinGen TOPMed |
|
|
CA068658 rs746575305 |
825 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 826 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312174861 CA354232575 |
827 | S>N | No |
ClinGen gnomAD |
|
|
CA82925631 rs767423365 |
828 | C>F | No |
ClinGen Ensembl |
|
|
rs748128807 CA068672 |
828 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 830 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458380672 CA354232547 |
831 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 833 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354232523 rs1348406740 |
835 | G>R | No |
ClinGen gnomAD |
|
|
rs1164306894 CA354232516 |
836 | V>F | No |
ClinGen gnomAD |
|
|
rs1164306894 CA354232518 |
836 | V>I | No |
ClinGen gnomAD |
|
|
rs1401139381 CA354232512 |
837 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA354232506 rs1381922837 |
838 | A>T | No |
ClinGen gnomAD |
|
|
CA068691 rs753513585 |
839 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA354232482 rs1285188410 |
840 | G>S | No |
ClinGen gnomAD |
|
|
rs1439007594 CA354232464 |
841 | G>C | No |
ClinGen gnomAD |
|
|
CA354232452 rs1461689312 |
842 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs780394629 CA068695 |
843 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA354232428 rs1192479930 |
843 | S>N | No |
ClinGen gnomAD |
|
|
CA354232419 rs756311286 |
843 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs767551483 CA068714 |
846 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489034643 CA354232354 |
847 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA354232350 rs1489034643 |
847 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA354232342 rs1238379638 |
848 | S>P | No |
ClinGen gnomAD |
|
|
CA354232303 rs1353650030 |
850 | R>S | No |
ClinGen gnomAD |
|
|
rs929779721 CA82925557 |
851 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1221054139 CA354232279 |
852 | G>D | No |
ClinGen gnomAD |
|
|
CA354232240 rs1365570921 |
854 | P>R | No |
ClinGen gnomAD |
|
|
CA068730 rs764449392 |
857 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752128030 CA068726 |
857 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA068736 TCGA novel rs763379876 |
858 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA354232182 rs1351134881 |
859 | G>D | No |
ClinGen TOPMed |
|
|
rs3732486 CA354232161 |
861 | L>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354232147 rs536506601 |
863 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA068787 rs779695227 |
869 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs865903260 CA354232105 |
870 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA82925482 rs865903260 |
870 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA82925480 rs868374041 |
870 | R>Q | No |
ClinGen gnomAD |
|
|
CA354232099 rs1358465403 |
871 | G>A | No |
ClinGen gnomAD |
|
|
CA354232090 rs1576626058 |
872 | V>G | No |
ClinGen Ensembl |
|
|
rs1170560761 CA354232094 |
872 | V>L | No |
ClinGen gnomAD |
|
|
CA354232073 rs1421073194 |
875 | R>T | No |
ClinGen gnomAD |
|
|
rs1199400133 CA354232062 |
878 | E>K | No |
ClinGen gnomAD |
|
|
CA354232049 rs1256471829 |
879 | T>M | No |
ClinGen gnomAD |
|
|
CA068830 rs759929158 |
885 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA068834 rs551547284 |
885 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354232008 rs759929158 |
885 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354640070 CA354232009 |
885 | E>K | No |
ClinGen TOPMed |
|
|
rs147332242 CA068848 |
888 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA068865 rs775461771 |
891 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1576625478 CA354231960 |
892 | V>G | No |
ClinGen Ensembl |
|
|
rs769601826 CA068869 |
892 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA068880 rs757467154 |
895 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354231900 rs1189140530 |
897 | F>S | No |
ClinGen TOPMed |
|
|
CA068884 rs747171137 |
898 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354231860 rs1198046566 |
899 | D>E | No |
ClinGen gnomAD |
|
|
CA068894 rs758463138 |
900 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA354231804 rs1320883900 |
903 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 903 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354231794 rs1309960711 |
903 | K>R | No |
ClinGen gnomAD |
|
|
rs755396410 CA068914 |
905 | V>M | No |
ClinGen ExAC |
|
| TCGA novel | 908 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354231685 rs754246956 |
909 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs754246956 CA068923 |
909 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA82925362 rs895275590 |
909 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354231672 rs1392489184 |
910 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354231678 rs767333358 |
910 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1264439778 CA354231665 |
911 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1264439778 CA354231663 |
911 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs530064548 CA068946 |
913 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1576624922 CA354231622 |
913 | D>G | No |
ClinGen Ensembl |
|
|
rs561148360 RCV000762383 CA354231609 |
914 | D>Y | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA354231540 rs1208274446 |
918 | I>S | No |
ClinGen gnomAD |
|
|
rs1208274446 CA354231538 |
918 | I>T | No |
ClinGen gnomAD |
|
|
CA354231510 rs748190292 |
920 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs748190292 CA068986 |
920 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 920 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354231468 rs1308412635 |
922 | Q>H | No |
ClinGen gnomAD |
|
|
CA354231442 rs1346371704 |
924 | D>N | No |
ClinGen TOPMed |
|
|
rs756465340 CA354231391 |
926 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371418382 CA069041 |
931 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA069037 rs371418382 |
931 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762375833 CA069032 |
931 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA82925190 rs1064967 |
933 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1359230351 CA354231283 |
935 | P>Q | No |
ClinGen gnomAD |
|
|
CA354231275 rs1455215085 |
936 | K>T | No |
ClinGen Ensembl |
|
|
rs1478429713 CA354231270 |
937 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 939 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354231254 rs1196762486 |
940 | E>K | No |
ClinGen gnomAD |
|
|
rs371613462 CA069064 |
942 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA82925181 rs957980850 |
942 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 943 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760459912 CA069068 |
944 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA354231152 rs1576624136 |
945 | V>G | No |
ClinGen Ensembl |
|
|
rs1560095492 CA354231135 |
946 | H>R | No |
ClinGen Ensembl |
|
|
rs1400248811 CA354231100 |
948 | P>A | No |
ClinGen TOPMed |
|
|
CA354231106 rs1400248811 |
948 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 949 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200536833 CA069085 |
950 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1576623969 CA354231036 |
951 | V>G | No |
ClinGen Ensembl |
|
|
CA82925130 rs971096950 |
952 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA069097 rs191784247 |
954 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs191784247 CA82925098 |
954 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1318003240 CA354230973 |
955 | S>F | No |
ClinGen gnomAD |
|
|
rs1415550600 CA354230968 |
956 | V>L | No |
ClinGen gnomAD |
|
|
rs777358571 CA069110 |
958 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764696619 CA069120 |
961 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752253614 CA069118 |
961 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA82925042 rs201266960 |
962 | T>N | No |
ClinGen Ensembl |
|
|
rs3207817 CA82925040 |
963 | S>P | No |
ClinGen Ensembl |
|
|
CA354230841 rs1244464825 |
964 | K>E | No |
ClinGen gnomAD |
|
|
CA069124 rs758996239 |
965 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA354230824 rs1576623586 |
965 | T>P | No |
ClinGen Ensembl |
|
|
CA354230806 rs1187956742 |
966 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354230810 rs1187956742 |
966 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1199429329 CA354230752 |
971 | V>L | No |
ClinGen gnomAD |
|
|
CA354230742 rs1463301044 |
972 | P>A | No |
ClinGen TOPMed |
|
|
rs1553803753 CA354230716 RCV000521289 |
974 | P>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs772228366 CA069149 |
974 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA069153 rs139107387 |
976 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139107387 CA354230697 |
976 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1270011629 CA354230681 |
977 | A>P | No |
ClinGen gnomAD |
|
|
CA354230676 rs1449147438 |
977 | A>V | No |
ClinGen gnomAD |
|
|
rs1342831140 CA354230665 |
978 | T>S | No |
ClinGen gnomAD |
|
|
CA354230654 rs368229473 |
979 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000455934 rs1553803719 |
980 | D>missing | No |
ClinVar dbSNP |
|
|
CA069166 rs375731554 |
982 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA354230613 rs375731554 |
982 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA354230609 rs1464293384 |
982 | R>H | No |
ClinGen gnomAD |
|
|
CA069176 rs770331974 |
983 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1473638833 CA354230582 |
984 | V>A | No |
ClinGen gnomAD |
|
|
CA354230564 rs199729674 |
986 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA069184 rs199729674 |
986 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354230543 rs1239470950 |
987 | G>V | No |
ClinGen gnomAD |
|
|
CA354230535 rs1160133556 |
988 | K>R | No |
ClinGen TOPMed |
|
|
CA069196 rs778478874 |
991 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs754488306 CA069200 |
992 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA069205 rs753339459 |
993 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA069219 rs750220725 |
995 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA069227 rs761654890 |
996 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA82924925 rs1047925630 |
996 | G>S | No |
ClinGen TOPMed |
|
|
rs770254072 CA069247 |
1001 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA069244 rs775627574 |
1001 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA069255 rs746354929 |
1003 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs776964311 CA069260 |
1005 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA069271 rs771297772 |
1007 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1008 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354230233 rs1320927886 |
1010 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA354230227 rs1246988549 |
1010 | S>I | No |
ClinGen gnomAD |
|
|
rs1489350706 CA354230200 |
1012 | K>R | No |
ClinGen TOPMed |
|
|
rs1449454753 CA354230191 |
1013 | P>H | No |
ClinGen gnomAD |
|
|
CA354230160 rs1355112098 |
1018 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA354230129 rs1560094325 |
1023 | L>S | No |
ClinGen Ensembl |
|
|
CA354230118 rs1576622170 |
1024 | K>N | No |
ClinGen Ensembl |
|
|
CA354230115 rs1386649547 |
1025 | P>S | No |
ClinGen gnomAD |
|
|
rs778578954 CA069307 CA069302 |
1026 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354230108 rs1217929813 |
1027 | G>R | No |
ClinGen gnomAD |
|
|
rs1292187743 CA354230098 |
1028 | N>S | No |
ClinGen TOPMed |
|
|
CA354230091 rs1560094204 |
1029 | A>D | No |
ClinGen Ensembl |
|
|
rs1420060387 CA354230084 |
1030 | K>R | No |
ClinGen gnomAD |
|
|
rs764470740 CA069340 |
1033 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1034 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354230061 rs1576621932 |
1034 | T>P | No |
ClinGen Ensembl |
|
|
CA354230041 rs1156763957 |
1037 | P>A | No |
ClinGen gnomAD |
|
|
CA069359 rs775472828 |
1038 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA069364 rs765390328 |
1039 | G>D | No |
ClinGen ExAC |
|
|
rs771422273 CA82924728 |
1044 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs771422273 CA069401 |
1044 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1044 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414759889 CA354229987 |
1046 | T>P | No |
ClinGen TOPMed |
|
|
rs768335085 CA069408 |
1048 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1048 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354229967 rs1361879091 |
1049 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA354229960 rs1400451578 |
1050 | M>I | No |
ClinGen gnomAD |
|
|
CA82924691 rs557750849 |
1050 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778176638 CA82924696 |
1050 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1342122439 CA354229954 |
1051 | G>D | No |
ClinGen gnomAD |
|
|
CA354229951 rs1296051224 |
1052 | N>H | No |
ClinGen gnomAD |
|
|
rs1452968448 CA354229946 |
1052 | N>I | No |
ClinGen gnomAD |
|
|
CA354229947 rs1452968448 |
1052 | N>S | No |
ClinGen gnomAD |
|
|
CA354229940 rs1359626662 |
1053 | A>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1055 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2577961 rs1553803351 |
1056 | D>G | No |
ClinGen Ensembl |
|
|
rs1478565107 CA354229867 |
1064 | K>T | No |
ClinGen gnomAD |
|
|
CA16617821 RCV000480510 rs1064797009 |
1065 | E>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA916997308 rs869245145 |
1065 | E>R | No |
ClinGen Ensembl |
|
|
CA069433 rs549428862 |
1066 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs72491150 CA82924650 |
1066 | E>Q | No |
ClinGen Ensembl |
|
|
CA069445 rs751450529 |
1070 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354229827 rs1306888436 |
1070 | D>H | No |
ClinGen TOPMed |
|
|
rs752986671 CA069455 |
1071 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA069460 rs752986671 |
1071 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA069466 rs765309702 |
1074 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs529292204 CA069469 |
1074 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1381421612 CA354229794 |
1075 | V>L | No |
ClinGen gnomAD |
|
|
rs1381421612 CA354229793 |
1075 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 1077 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA069473 rs753848504 |
1079 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1079 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766917949 CA069477 |
1080 | G>D | No |
ClinGen ExAC |
|
|
rs1422493925 CA354229749 |
1081 | H>Q | No |
ClinGen TOPMed |
|
|
rs773665279 CA069487 |
1082 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA069492 rs772444197 |
1083 | G>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1086 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409950058 CA354229671 |
1087 | N>T | No |
ClinGen TOPMed |
|
|
rs1428257142 CA354229662 |
1088 | E>K | No |
ClinGen gnomAD |
|
|
rs1176144510 CA354229626 |
1089 | K>N | No |
ClinGen TOPMed |
|
|
CA069524 rs745443960 |
1091 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560093099 CA354229598 |
1091 | S>L | No |
ClinGen Ensembl |
|
|
CA354229604 rs745443960 |
1091 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460324793 CA354229557 |
1093 | S>N | No |
ClinGen gnomAD |
|
|
rs780828847 CA354229541 |
1094 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA069529 rs780828847 |
1094 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530737723 CA069534 |
1094 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1411027778 CA354229527 |
1095 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs200287208 CA82924571 |
1096 | T>S | No |
ClinGen 1000Genomes |
|
|
rs777804948 CA069544 |
1099 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758217067 CA069549 |
1101 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201094648 CA069553 |
1104 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA82924546 rs373383395 |
1105 | Q>R | No |
ClinGen ESP gnomAD |
|
|
rs779251437 CA069557 |
1107 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA354229301 rs755132285 |
1108 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354229299 rs1201958248 |
1108 | H>Q | No |
ClinGen TOPMed |
|
|
rs755132285 CA069562 |
1108 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354229266 rs1262789998 |
1110 | A>V | No |
ClinGen TOPMed |
|
|
rs1560092803 CA354229262 |
1111 | E>Q | No |
ClinGen Ensembl |
|
|
CA069573 rs766474525 |
1113 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs760693181 CA069577 |
1115 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA069580 rs750938164 |
1116 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs767948913 CA069588 |
1120 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA354229040 rs1475333215 |
1122 | S>Y | No |
ClinGen TOPMed |
|
|
CA354229012 rs1167262056 |
1124 | D>A | No |
ClinGen gnomAD |
|
|
CA069594 rs762309479 |
1124 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479187660 CA354228976 |
1126 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1126 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10606070 rs886043880 RCV000300723 |
1127 | A>GP | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1127 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA069601 rs769538142 |
1127 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA354228941 rs1179384491 |
1128 | T>S | No |
ClinGen gnomAD |
|
|
CA354228890 rs1388889365 |
1130 | I>M | No |
ClinGen TOPMed |
|
|
CA82924527 rs745315828 |
1130 | I>V | No |
ClinGen Ensembl |
|
|
rs865358 CA354228811 CA354228812 |
1134 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777923531 CA069626 |
1135 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1042205525 CA82924515 |
1137 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA069633 rs542248731 |
1141 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354228653 rs1221733896 |
1141 | T>S | No |
ClinGen TOPMed |
|
|
rs748022784 CA069637 |
1142 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA354228589 rs1305595481 |
1145 | I>N | No |
ClinGen gnomAD |
|
|
rs1386992760 CA354228576 |
1146 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA069703 rs774292564 |
1151 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1152 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354235029 rs1480199241 |
1153 | C>R | No |
ClinGen gnomAD |
|
|
rs930753424 CA82940457 |
1153 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs201251944 CA354235016 |
1155 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347687164 CA354235007 |
1156 | S>F | No |
ClinGen gnomAD |
|
|
CA354235000 rs780323793 |
1157 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1260927946 CA354235005 |
1157 | I>V | No |
ClinGen gnomAD |
|
|
rs897907447 CA82940443 |
1158 | E>D | No |
ClinGen TOPMed |
|
|
CA069723 rs756317553 |
1160 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs781105303 CA069729 |
1162 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA354234962 rs1433300131 |
1164 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354234944 rs1198600835 |
1166 | G>D | No |
ClinGen TOPMed |
|
|
CA069732 rs375095511 |
1169 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373163290 CA069736 |
1171 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA354234909 rs1396734311 |
1171 | V>I | No |
ClinGen gnomAD |
|
|
CA354234880 rs1576580941 |
1175 | D>A | No |
ClinGen Ensembl |
|
|
CA069747 rs758839208 |
1176 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA069751 rs369094329 |
1176 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs189757903 CA069759 |
1179 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1467916123 CA354234854 |
1180 | E>K | No |
ClinGen TOPMed |
|
|
rs1576580785 CA354234844 |
1181 | C>G | No |
ClinGen Ensembl |
|
|
CA354234837 rs1576580764 |
1182 | S>P | No |
ClinGen Ensembl |
|
|
rs1462548665 CA354234828 |
1183 | C>Y | No |
ClinGen gnomAD |
|
|
CA354234810 rs1576580694 |
1186 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 1187 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA82940394 rs1033357973 |
1187 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1457975639 CA354234796 |
1188 | D>G | No |
ClinGen gnomAD |
|
|
CA82936266 rs775369609 |
1190 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs775369609 CA069842 |
1190 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA069844 rs769599836 |
1190 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs930172224 CA82936250 |
1191 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354233678 rs1162838991 |
1192 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA069859 rs776724662 |
1193 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354233670 rs776724662 |
1193 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82936221 rs749091089 |
1195 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs370979375 CA069864 |
1195 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA82936209 rs563356473 |
1197 | K>R | No |
ClinGen Ensembl |
|
|
CA82936207 rs911251036 |
1198 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354233627 rs1281226441 |
1199 | P>S | No |
ClinGen TOPMed |
|
|
rs867048614 CA82936204 |
1201 | M>I | No |
ClinGen Ensembl |
|
|
rs1222125596 CA354233541 |
1206 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779501339 CA069887 |
1206 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1275661070 CA354233539 |
1207 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1207 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1209 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354233499 rs1343423625 |
1210 | L>F | No |
ClinGen gnomAD |
|
|
CA354233493 rs1490588396 |
1211 | P>S | No |
ClinGen TOPMed |
|
|
CA069901 rs754223181 |
1212 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA16622004 rs1442851344 |
1218 | S>N | No |
ClinGen gnomAD |
|
|
rs370872760 CA354231924 |
1220 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA82930594 rs917219106 |
1220 | A>T | No |
ClinGen TOPMed |
|
|
rs754911735 CA070012 |
1226 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1454059079 CA354231786 |
1227 | A>S | No |
ClinGen gnomAD |
|
|
rs773569660 CA070030 |
1229 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA070037 rs767843209 |
1231 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA070043 rs762039026 |
1232 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA070059 rs749836430 |
1233 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1236 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1576480766 CA354230709 |
1237 | P>A | No |
ClinGen Ensembl |
|
|
CA354230689 rs1454440384 |
1239 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 1239 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431207683 CA354230656 |
1241 | I>N | No |
ClinGen gnomAD |
|
|
RCV001174757 rs2059732665 |
1242 | Q>H | No |
ClinVar dbSNP |
|
|
CA354230614 rs1196952053 |
1244 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1244 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1245 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1246 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530737058 CA070166 |
1251 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530737058 CA070158 |
1251 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA82930166 rs986859519 |
1251 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA82930160 rs1010065355 |
1253 | E>G | No |
ClinGen TOPMed |
|
|
rs1240672229 CA354230491 |
1255 | V>M | No |
ClinGen TOPMed |
|
|
CA354230476 rs1223751623 |
1256 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 1258 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354230424 rs1285640309 |
1260 | K>I | No |
ClinGen gnomAD |
|
|
rs780094038 CA070198 |
1261 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1263 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756095156 CA070205 |
1268 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270939003 CA354230236 |
1276 | K>E | No |
ClinGen TOPMed |
|
|
CA354229635 rs1240666284 |
1279 | Q>H | No |
ClinGen gnomAD |
|
|
rs1142295 CA070350 |
1284 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA354229528 rs1274180462 |
1284 | M>L | No |
ClinGen gnomAD |
|
|
rs527326491 CA070355 |
1285 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1289 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763844853 CA070382 |
1290 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA354229340 rs1336527807 |
1293 | S>T | No |
ClinGen gnomAD |
|
|
CA354229275 rs1330691130 |
1296 | T>S | No |
ClinGen gnomAD |
|
|
rs770980369 CA354229185 |
1301 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777401981 CA070454 |
1303 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA070458 rs758161864 |
1304 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748330354 CA354229127 |
1304 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs748330354 CA070463 |
1304 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs753896856 CA070481 |
1306 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA354229017 rs1378370521 |
1309 | T>A | No |
ClinGen TOPMed |
|
|
rs766916222 CA070486 |
1309 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA070498 rs750899369 |
1311 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA354228949 rs1576473721 |
1312 | V>G | No |
ClinGen Ensembl |
|
|
CA070558 rs775014243 |
1317 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759175384 CA070616 |
1324 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA82929050 rs915146541 |
1326 | T>A | No |
ClinGen TOPMed |
|
|
rs1000644079 CA82929046 |
1327 | V>L | No |
ClinGen Ensembl |
|
|
rs758789910 CA070799 |
1332 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1168067649 CA354228351 |
1332 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1334 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753543045 CA070807 |
1335 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs199973473 CA354228322 |
1337 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199973473 CA070815 |
1337 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354228320 rs1309227729 |
1338 | P>T | No |
ClinGen gnomAD |
|
|
CA82924848 rs41530452 |
1341 | S>P | No |
ClinGen Ensembl |
|
|
CA070833 rs767393963 |
1342 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA354228293 rs1284963237 |
1342 | D>V | No |
ClinGen gnomAD |
|
|
CA354228272 rs1302677255 |
1346 | S>A | No |
ClinGen gnomAD |
|
|
rs1443386256 CA354228267 |
1346 | S>F | No |
ClinGen gnomAD |
|
|
CA070874 rs375792564 |
1350 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775757746 CA070884 |
1351 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1560027806 RCV000762381 |
1353 | Y>C | No |
ClinVar dbSNP |
|
|
CA070898 rs770044054 |
1353 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1380606226 CA354228214 |
1355 | S>F | No |
ClinGen TOPMed |
|
|
CA070903 rs745988154 |
1356 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA070922 rs770879340 |
1364 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA354228151 rs1341722670 |
1365 | S>F | No |
ClinGen TOPMed |
|
|
CA82924760 rs764337773 |
1366 | Y>H | No |
ClinGen Ensembl |
|
|
rs1397336213 CA354228135 |
1368 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA82924739 rs199971683 RCV000523581 |
1370 | I>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA070953 rs748506730 |
1374 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA070957 rs779618727 |
1374 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA82924720 rs997936162 |
1375 | N>D | No |
ClinGen TOPMed |
|
|
CA070964 rs755761203 |
1375 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765421400 CA354227994 |
1389 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470925802 CA354227983 |
1390 | N>S | No |
ClinGen TOPMed |
|
|
CA82924634 rs959403270 |
1391 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs776671548 CA071024 |
1392 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA354227971 rs1181164204 |
1392 | Q>R | No |
ClinGen gnomAD |
|
|
rs1490505493 CA354227964 |
1393 | D>V | No |
ClinGen gnomAD |
|
|
rs1576453589 CA354227892 |
1404 | V>I | No |
ClinGen Ensembl |
|
|
rs745547260 CA071093 |
1405 | R>H | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745547260 CA354227884 |
1405 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA071082 rs755248772 |
1405 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354227881 rs1205248146 |
1406 | A>S | No |
ClinGen TOPMed |
|
|
rs1385538342 CA354227869 |
1408 | N>D | No |
ClinGen gnomAD |
|
|
rs4528888 CA82924565 |
1410 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs4528888 CA071119 |
1410 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA354227844 rs1386690780 |
1412 | T>A | No |
ClinGen gnomAD |
|
|
CA354227841 rs901809644 |
1412 | T>I | No |
ClinGen gnomAD |
|
|
CA82924558 rs901809644 |
1412 | T>N | No |
ClinGen gnomAD |
|
|
rs1480634996 CA354227840 |
1413 | S>G | No |
ClinGen gnomAD |
|
|
CA354227806 rs1196666594 |
1417 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs752540573 CA071132 |
1417 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA071144 rs140956155 |
1423 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1444729918 CA354227760 |
1425 | G>R | No |
ClinGen gnomAD |
|
|
rs773390077 CA071168 |
1426 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs372664094 CA354227705 |
1431 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA354227704 rs372664094 |
1431 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA071317 rs372664094 |
1431 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1389036916 CA354227685 |
1434 | E>K | No |
ClinGen gnomAD |
|
|
CA071353 rs375433770 |
1435 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778398628 CA071359 |
1436 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354227661 rs1576428583 |
1437 | V>G | No |
ClinGen Ensembl |
|
|
rs1252901556 CA354227665 |
1437 | V>L | No |
ClinGen gnomAD |
|
|
rs753765468 CA354227654 |
1439 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA071375 rs753765468 |
1439 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1440 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354227647 rs1274079650 |
1440 | D>N | No |
ClinGen gnomAD |
|
|
rs879757570 CA82919760 |
1447 | V>I | No |
ClinGen Ensembl |
|
|
CA354227577 rs1400984437 |
1448 | D>N | No |
ClinGen gnomAD |
|
|
CA354227560 rs41366751 |
1450 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354227552 rs1576427999 |
1452 | V>L | No |
ClinGen Ensembl |
|
|
rs758450558 CA071512 |
1453 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354227537 rs1479267897 |
1454 | I>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1456 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1461 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA916997144 rs1560014850 |
1461 | S>QDQNETQGGE* | No |
ClinGen Ensembl |
|
| TCGA novel | 1462 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759940284 CA071529 |
1462 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270233377 CA354227486 |
1462 | D>N | No |
ClinGen gnomAD |
|
|
CA354227463 rs1279018766 |
1465 | D>N | No |
ClinGen gnomAD |
|
|
CA071628 rs773996829 |
1472 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1064797297 CA16621807 RCV000488042 |
1475 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1183444473 CA354227363 |
1477 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 1477 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746820711 CA071751 |
1482 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354227338 rs1310994208 |
1482 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 1484 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA82918428 rs968890615 |
1485 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA82918408 rs941766411 |
1485 | K>N | No |
ClinGen TOPMed |
|
|
CA354227309 rs1483967686 |
1486 | T>A | No |
ClinGen gnomAD |
|
|
CA071761 rs560138602 |
1486 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA82918391 rs886229659 |
1487 | R>G | Aortic aneurysm, familial thoracic 7 (aat7) [Ensembl] | No |
ClinGen gnomAD |
|
CA82918377 rs1047937861 |
1490 | W>C | No |
ClinGen Ensembl |
|
|
CA071768 rs748327698 |
1490 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1377469744 CA354227237 |
1497 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1498 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312599058 CA354227181 |
1504 | E>D | No |
ClinGen gnomAD |
|
|
CA071787 rs778981889 |
1505 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306332940 CA354227168 |
1506 | I>M | No |
ClinGen gnomAD |
|
|
CA071791 rs754988972 |
1506 | I>N | No |
ClinGen ExAC |
|
|
CA82918335 rs748610813 |
1509 | E>D | No |
ClinGen gnomAD |
|
|
CA354227139 rs1412831614 |
1511 | S>T | No |
ClinGen gnomAD |
|
|
CA071805 rs756490769 |
1512 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82918309 rs781730221 |
1517 | H>Y | No |
ClinGen Ensembl |
|
|
rs1404318211 CA354227079 |
1519 | P>R | No |
ClinGen gnomAD |
|
|
rs1249511435 CA354227063 |
1522 | V>I | No |
ClinGen gnomAD |
|
|
CA071829 rs762727464 |
1523 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354227055 rs762727464 |
1523 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34982967 VAR_040858 CA82918279 |
1527 | A>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA071839 rs200949109 |
1531 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354226328 rs1466522531 |
1541 | V>A | No |
ClinGen gnomAD |
|
|
rs954388687 CA82913991 |
1541 | V>M | No |
ClinGen gnomAD |
|
|
CA071943 rs775096552 |
1542 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA071948 rs761590079 |
1543 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1546 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA82913933 rs867552093 |
1549 | R>H | No |
ClinGen TOPMed |
|
|
rs995938769 CA82913918 |
1553 | E>V | No |
ClinGen Ensembl |
|
|
rs769714150 CA071977 |
1559 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA82913899 rs1016031661 |
1564 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA071986 rs781737656 |
1566 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1567 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA071998 rs747368032 |
1570 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA354226122 rs1576401837 |
1572 | G>R | No |
ClinGen Ensembl |
|
|
CA354226089 rs1363247728 |
1576 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1301022074 CA354226048 |
1582 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1583 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1589 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461883888 CA354225988 |
1591 | I>F | No |
ClinGen TOPMed |
|
|
rs761643027 CA072050 |
1591 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1425565255 CA354225985 |
1591 | I>T | No |
ClinGen gnomAD |
|
|
rs938627009 CA82913868 |
1592 | M>I | No |
ClinGen TOPMed |
|
|
rs1560001924 CA354225979 |
1592 | M>T | No |
ClinGen Ensembl |
|
|
CA072058 rs763755515 |
1596 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1192992419 CA354225953 |
1596 | K>Q | No |
ClinGen gnomAD |
|
|
CA072054 rs774100340 |
1596 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560001785 CA354225942 |
1598 | G>S | No |
ClinGen Ensembl |
|
|
CA354225924 rs111901174 |
1600 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA072099 rs778317002 |
1610 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA354225852 rs199792889 |
1611 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354225822 rs820463 |
1614 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354225820 rs1185016724 |
1615 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA072189 rs772551534 |
1617 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA354225800 rs1329275023 |
1618 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 1620 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474032380 CA354225791 |
1620 | V>I | No |
ClinGen TOPMed |
|
|
CA354225783 rs1359543761 |
1621 | L>F | No |
ClinGen gnomAD |
|
|
CA354225758 rs1271496429 |
1625 | P>A | No |
ClinGen gnomAD |
|
|
CA354225759 rs1271496429 |
1625 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1626 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1632 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354225668 rs1412997500 |
1638 | I>V | No |
ClinGen gnomAD |
|
|
CA354225661 rs752526557 |
1639 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751502396 CA072243 |
1641 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA072253 rs758272545 |
1646 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354225612 rs1389874214 |
1646 | S>N | No |
ClinGen gnomAD |
|
|
CA354225593 rs1399510023 |
1649 | V>L | No |
ClinGen gnomAD |
|
|
CA354225569 rs1479057382 |
1652 | Y>C | No |
ClinGen gnomAD |
|
|
CA354225571 rs1173293040 |
1652 | Y>H | No |
ClinGen gnomAD |
|
|
rs1484638843 CA354233432 |
1656 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1279047834 CA354233424 |
1657 | G>C | No |
ClinGen gnomAD |
|
|
CA354233392 rs1559985971 |
1662 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA072364 rs766692784 |
1665 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1213559241 CA354233361 |
1666 | D>N | No |
ClinGen gnomAD |
|
|
CA072377 rs750437332 |
1668 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA072392 rs577501563 |
1672 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764447883 CA072402 |
1673 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA072407 rs763303731 |
1674 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA072421 rs770549888 |
1677 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA072426 rs150392984 |
1681 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140456660 CA82944823 |
1682 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs968157617 CA82944816 |
1683 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 1684 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA82944814 rs781190664 |
1685 | F>L | No |
ClinGen TOPMed |
|
|
CA354233231 rs1483753716 |
1686 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA072453 rs754874304 |
1688 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA354233207 rs1203435454 |
1689 | S>A | No |
ClinGen gnomAD |
|
|
CA072464 rs554444072 |
1690 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143398165 CA072473 |
1692 | A>D | No |
ClinGen ESP ExAC |
|
|
rs1375643348 CA354233144 |
1698 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 1698 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764572695 CA072496 |
1702 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs763359005 CA072502 |
1703 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA354233109 rs1350685913 |
1703 | D>Y | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs146600235 CA072509 |
1704 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1475180335 CA354233103 |
1704 | M>V | No |
ClinGen TOPMed |
|
|
CA072514 rs555101909 |
1705 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354233074 rs1576351617 |
1706 | N>T | No |
ClinGen Ensembl |
|
|
CA354232975 rs1559981693 |
1720 | M>I | No |
ClinGen Ensembl |
|
|
rs1433266432 CA354232968 |
1721 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1722 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA072622 rs759881799 |
1734 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354232857 rs1487172440 |
1736 | M>I | No |
ClinGen gnomAD |
|
|
CA072634 rs767172548 |
1738 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1740 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1740 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1742 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762997073 CA072656 |
1743 | R>G | No |
ClinGen ExAC |
|
|
CA354231829 rs1559970350 |
1749 | G>V | No |
ClinGen Ensembl |
|
|
CA072736 rs769749622 |
1750 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1751 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478020770 CA354231746 |
1754 | A>V | No |
ClinGen Ensembl |
|
|
CA354231683 rs1393384583 |
1758 | L>P | No |
ClinGen TOPMed |
|
|
CA354231638 rs1250613141 |
1761 | M>I | No |
ClinGen gnomAD |
|
|
rs770585066 CA072760 |
1761 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1245231468 CA354231598 |
1763 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1767 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA072765 rs747248257 |
1767 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA354231523 rs1414048723 |
1769 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA82940795 rs530450065 |
1769 | G>S | No |
ClinGen 1000Genomes |
|
|
CA354231512 rs1235319565 |
1770 | R>K | No |
ClinGen TOPMed |
|
|
rs772211380 CA072779 |
1771 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA82940786 rs974834451 |
1772 | S>C | No |
ClinGen gnomAD |
|
|
rs974834451 CA354231491 |
1772 | S>F | No |
ClinGen gnomAD |
|
|
rs1576320448 CA354231496 |
1772 | S>T | No |
ClinGen Ensembl |
|
|
rs1576320375 CA354231454 |
1776 | S>A | No |
ClinGen Ensembl |
|
|
CA354231443 rs1395319485 |
1777 | P>R | No |
ClinGen gnomAD |
|
|
rs1199884485 CA354231426 |
1779 | S>N | No |
ClinGen TOPMed |
|
|
CA072794 rs200088151 |
1780 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354231412 rs200088151 |
1780 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780478599 CA072809 |
1783 | A>E | No |
ClinGen ExAC TOPMed |
|
|
CA072804 rs749707023 |
1783 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756479350 CA072812 |
1785 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA072817 rs751323718 |
1787 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA82940762 rs551204823 |
1790 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1455621714 CA354231184 |
1795 | A>V | No |
ClinGen TOPMed |
|
|
rs1197088894 CA354231164 |
1797 | L>P | No |
ClinGen TOPMed |
|
|
rs777616795 CA072910 RCV000756400 |
1798 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA354231139 rs1447574686 |
1800 | V>L | No |
ClinGen gnomAD |
|
|
CA82940182 rs75383538 |
1801 | A>S | No |
ClinGen Ensembl |
|
|
rs758144812 CA072917 |
1801 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA072927 rs764805187 |
1802 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1803 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354231083 rs1368328345 |
1805 | P>H | No |
ClinGen gnomAD |
|
|
CA354231084 rs1236092985 |
1805 | P>S | No |
ClinGen gnomAD |
|
|
rs1327158495 CA354231073 |
1806 | H>P | No |
ClinGen TOPMed |
|
|
rs551716136 CA354231069 CA354231067 |
1806 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1457231201 CA354231075 |
1806 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 1809 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773016751 CA072958 |
1810 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA072954 rs760516695 |
1810 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA072968 rs762029282 |
1813 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs140636141 CA354230972 |
1816 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1816 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390136240 CA354230954 |
1818 | L>S | No |
ClinGen gnomAD |
|
|
rs781712914 CA073004 |
1820 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA82940051 rs868526364 |
1823 | G>R | No |
ClinGen Ensembl |
|
|
rs1212387004 CA354230894 |
1824 | S>R | No |
ClinGen gnomAD |
|
|
rs910892660 CA82940040 |
1828 | F>L | No |
ClinGen TOPMed |
|
|
rs1274949918 CA354230833 |
1829 | D>E | No |
ClinGen TOPMed |
|
|
rs1214755818 CA354230809 |
1831 | K>N | No |
ClinGen gnomAD |
|
|
rs1467047104 CA354230798 |
1832 | I>T | No |
ClinGen TOPMed |
|
|
rs947049871 CA82937747 |
1839 | E>D | No |
ClinGen TOPMed |
|
|
CA82937752 rs369358803 |
1839 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA073081 rs768219999 |
1840 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs768219999 CA354229632 |
1840 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA82937737 rs1804613 |
1842 | W>R | No |
ClinGen Ensembl |
|
|
CA82937732 rs748934365 CA354229511 |
1845 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA073093 rs779547778 |
1846 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1474172649 CA354229507 |
1846 | D>N | No |
ClinGen gnomAD |
|
|
rs879115685 CA82937716 |
1848 | S>* | No |
ClinGen Ensembl |
|
|
CA354229417 rs1177273925 |
1849 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA82937708 rs972770717 |
1850 | R>G | No |
ClinGen Ensembl |
|
|
CA354229360 rs1576283644 |
1852 | S>P | No |
ClinGen Ensembl |
|
|
CA073101 rs375758782 |
1853 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375758782 CA82937704 |
1853 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs982108163 CA82937700 |
1854 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1274171468 CA354229230 |
1857 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs928506385 CA82937675 |
1857 | I>V | No |
ClinGen TOPMed |
|
|
rs1235715327 CA354229218 |
1858 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA073110 rs757115211 |
1860 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA073113 rs563208285 |
1862 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA82937667 rs980303095 |
1862 | D>Y | No |
ClinGen TOPMed |
|
|
rs1375537920 CA354229048 |
1866 | S>F | No |
ClinGen gnomAD |
|
|
rs752897933 CA073124 |
1867 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA073129 rs552874701 |
1869 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759672855 CA073134 |
1870 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82937658 rs113329897 |
1871 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1872 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354228933 rs1417068352 |
1873 | C>G | No |
ClinGen gnomAD |
|
|
rs532767014 CA073150 |
1874 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368993888 CA073155 |
1875 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1302750305 CA354228835 |
1877 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 1880 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354228725 rs1232047611 |
1881 | T>S | No |
ClinGen TOPMed |
|
|
CA354228668 rs1467373591 |
1885 | V>L | No |
ClinGen gnomAD |
|
|
CA354228658 rs1217078588 |
1886 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1886 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867810257 CA82937586 |
1888 | L>F | No |
ClinGen Ensembl |
|
|
rs1304934740 CA354228588 |
1891 | A>G | No |
ClinGen gnomAD |
|
|
CA354228552 rs1559956862 |
1894 | T>I | No |
ClinGen Ensembl |
|
|
CA82937569 rs1065022 |
1897 | L>H | No |
ClinGen gnomAD |
|
|
CA354228509 rs1065022 |
1897 | L>R | No |
ClinGen gnomAD |
|
|
rs1031116259 CA82937564 |
1898 | I>T | No |
ClinGen Ensembl |
|
|
rs374331944 CA073191 |
1898 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA073212 rs758153631 |
1903 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1903 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354228457 rs1396522007 |
1905 | G>D | No |
ClinGen gnomAD |
|
|
CA073233 rs765548705 |
1909 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA354228419 rs1206293380 |
1911 | E>K | No |
ClinGen gnomAD |
|
|
rs776151609 CA82937498 |
1911 | E>V | No |
ClinGen Ensembl |
|
|
rs755145231 CA073237 |
1914 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA354228390 RCV000522392 rs1553768506 |
1914 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
2 associated diseases with Q15746
[MIM: 613780]: Aortic aneurysm, familial thoracic 7 (AAT7)
A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 249210]: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)
A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS inheritance is autosomal recessive. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS inheritance is autosomal recessive. . Note=The disease is caused by variants affecting the gene represented in this entry.
41 regional properties for Q15746
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 1464 - 1719 | IPR000719 |
| domain | Immunoglobulin subtype 2 | 45 - 113 | IPR003598-1 |
| domain | Immunoglobulin subtype 2 | 173 - 240 | IPR003598-2 |
| domain | Immunoglobulin subtype 2 | 426 - 494 | IPR003598-3 |
| domain | Immunoglobulin subtype 2 | 526 - 590 | IPR003598-4 |
| domain | Immunoglobulin subtype 2 | 635 - 702 | IPR003598-5 |
| domain | Immunoglobulin subtype 2 | 733 - 801 | IPR003598-6 |
| domain | Immunoglobulin subtype 2 | 1110 - 1177 | IPR003598-7 |
| domain | Immunoglobulin subtype 2 | 1250 - 1317 | IPR003598-8 |
| domain | Immunoglobulin subtype 2 | 1821 - 1889 | IPR003598-9 |
| domain | Immunoglobulin subtype | 39 - 124 | IPR003599-1 |
| domain | Immunoglobulin subtype | 167 - 251 | IPR003599-2 |
| domain | Immunoglobulin subtype | 420 - 505 | IPR003599-3 |
| domain | Immunoglobulin subtype | 520 - 601 | IPR003599-4 |
| domain | Immunoglobulin subtype | 629 - 713 | IPR003599-5 |
| domain | Immunoglobulin subtype | 727 - 812 | IPR003599-6 |
| domain | Immunoglobulin subtype | 1104 - 1188 | IPR003599-7 |
| domain | Immunoglobulin subtype | 1244 - 1328 | IPR003599-8 |
| domain | Immunoglobulin subtype | 1815 - 1900 | IPR003599-9 |
| domain | Fibronectin type III | 1331 - 1426 | IPR003961 |
| domain | Immunoglobulin-like domain | 33 - 122 | IPR007110-1 |
| domain | Immunoglobulin-like domain | 161 - 249 | IPR007110-2 |
| domain | Immunoglobulin-like domain | 414 - 503 | IPR007110-3 |
| domain | Immunoglobulin-like domain | 514 - 599 | IPR007110-4 |
| domain | Immunoglobulin-like domain | 620 - 711 | IPR007110-5 |
| domain | Immunoglobulin-like domain | 721 - 808 | IPR007110-6 |
| domain | Immunoglobulin-like domain | 1098 - 1186 | IPR007110-7 |
| domain | Immunoglobulin-like domain | 1238 - 1326 | IPR007110-8 |
| domain | Immunoglobulin-like domain | 1809 - 1898 | IPR007110-9 |
| active_site | Serine/threonine-protein kinase, active site | 1581 - 1593 | IPR008271 |
| domain | Immunoglobulin I-set | 33 - 123 | IPR013098-1 |
| domain | Immunoglobulin I-set | 161 - 250 | IPR013098-2 |
| domain | Immunoglobulin I-set | 414 - 504 | IPR013098-3 |
| domain | Immunoglobulin I-set | 514 - 600 | IPR013098-4 |
| domain | Immunoglobulin I-set | 624 - 712 | IPR013098-5 |
| domain | Immunoglobulin I-set | 722 - 809 | IPR013098-6 |
| domain | Immunoglobulin I-set | 1098 - 1187 | IPR013098-7 |
| domain | Immunoglobulin I-set | 1238 - 1327 | IPR013098-8 |
| domain | Immunoglobulin I-set | 1809 - 1899 | IPR013098-9 |
| domain | Myosin Light Chain Kinase 1, Kinase domain | 1461 - 1719 | IPR015725 |
| binding_site | Protein kinase, ATP binding site | 1470 - 1493 | IPR017441 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.18 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| cleavage furrow | The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm. |
| 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. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| 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. |
| metal ion binding | Binding to a metal ion. |
| myosin light chain kinase activity | Catalysis of the reaction |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| aorta smooth muscle tissue morphogenesis | The process in which the structure of the smooth muscle tissue surrounding the aorta is generated and organized. An aorta is an artery that carries blood from the heart to other parts of the body. |
| bleb assembly | The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. |
| cellular hypotonic response | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of detection of, or exposure to, a hypotonic environment, i.e. an environment with a lower concentration of solutes than the organism or cell. |
| positive regulation of calcium ion transport | Any process that activates or increases the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| positive regulation of wound healing | Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| smooth muscle contraction | A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length. |
| tonic smooth muscle contraction | A process in which force is generated within tonic smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the tonic smooth muscle, the muscle contraction occurs without an ordered sarcomeric structure. Tonic smooth muscle contraction occurs as a sustained continuous contraction. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P11799 | Mylk | Myosin light chain kinase, smooth muscle | Gallus gallus (Chicken) | SS |
| Q8WZ42 | TTN | Titin | Homo sapiens (Human) | EV |
| Q62407 | Speg | Striated muscle-specific serine/threonine-protein kinase | Mus musculus (Mouse) | SS |
| A2ASS6 | Ttn | Titin | Mus musculus (Mouse) | SS |
| Q6PDN3 | Mylk | Myosin light chain kinase, smooth muscle | Mus musculus (Mouse) | EV |
| Q63638 | Speg | Striated muscle-specific serine/threonine-protein kinase | Rattus norvegicus (Rat) | SS |
| P97924 | Kalrn | Kalirin | Rattus norvegicus (Rat) | SS |
| G4SLH0 | ttn-1 | Titin homolog | Caenorhabditis elegans | EV |
| Q23551 | unc-22 | Twitchin | Caenorhabditis elegans | EV |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDVKLVASS | HISKTSLSVD | PSRVDSMPLT | EAPAFILPPR | NLCIKEGATA | KFEGRVRGYP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EPQVTWHRNG | QPITSGGRFL | LDCGIRGTFS | LVIHAVHEED | RGKYTCEATN | GSGARQVTVE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LTVEGSFAKQ | LGQPVVSKTL | GDRFSAPAVE | TRPSIWGECP | PKFATKLGRV | VVKEGQMGRF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SCKITGRPQP | QVTWLKGNVP | LQPSARVSVS | EKNGMQVLEI | HGVNQDDVGV | YTCLVVNGSG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KASMSAELSI | QGLDSANRSF | VRETKATNSD | VRKEVTNVIS | KESKLDSLEA | AAKSKNCSSP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QRGGSPPWAA | NSQPQPPRES | KLESCKDSPR | TAPQTPVLQK | TSSSITLQAA | RVQPEPRAPG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LGVLSPSGEE | RKRPAPPRPA | TFPTRQPGLG | SQDVVSKAAN | RRIPMEGQRD | SAFPKFESKP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QSQEVKENQT | VKFRCEVSGI | PKPEVAWFLE | GTPVRRQEGS | IEVYEDAGSH | YLCLLKARTR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DSGTYSCTAS | NAQGQLSCSW | TLQVERLAVM | EVAPSFSSVL | KDCAVIEGQD | FVLQCSVRGT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PVPRITWLLN | GQPIQYARST | CEAGVAELHI | QDALPEDHGT | YTCLAENALG | QVSCSAWVTV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HEKKSSRKSE | YLLPVAPSKP | TAPIFLQGLS | DLKVMDGSQV | TMTVQVSGNP | PPEVIWLHNG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NEIQESEDFH | FEQRGTQHSL | CIQEVFPEDT | GTYTCEAWNS | AGEVRTQAVL | TVQEPHDGTQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PWFISKPRSV | TASLGQSVLI | SCAIAGDPFP | TVHWLRDGKA | LCKDTGHFEV | LQNEDVFTLV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LKKVQPWHAG | QYEILLKNRV | GECSCQVSLM | LQNSSARALP | RGREPASCED | LCGGGVGADG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| GGSDRYGSLR | PGWPARGQGW | LEEEDGEDVR | GVLKRRVETR | QHTEEAIRQQ | EVEQLDFRDL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LGKKVSTKTL | SEDDLKEIPA | EQMDFRANLQ | RQVKPKTVSE | EERKVHSPQQ | VDFRSVLAKK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| GTSKTPVPEK | VPPPKPATPD | FRSVLGGKKK | LPAENGSSSA | ETLNAKAVES | SKPLSNAQPS |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| GPLKPVGNAK | PAETLKPMGN | AKPAETLKPM | GNAKPDENLK | SASKEELKKD | VKNDVNCKRG |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| HAGTTDNEKR | SESQGTAPAF | KQKLQDVHVA | EGKKLLLQCQ | VSSDPPATII | WTLNGKTLKT |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| TKFIILSQEG | SLCSVSIEKA | LPEDRGLYKC | VAKNDAGQAE | CSCQVTVDDA | PASENTKAPE |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| MKSRRPKSSL | PPVLGTESDA | TVKKKPAPKT | PPKAAMPPQI | IQFPEDQKVR | AGESVELFGK |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| VTGTQPITCT | WMKFRKQIQE | SEHMKVENSE | NGSKLTILAA | RQEHCGCYTL | LVENKLGSRQ |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| AQVNLTVVDK | PDPPAGTPCA | SDIRSSSLTL | SWYGSSYDGG | SAVQSYSIEI | WDSANKTWKE |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| LATCRSTSFN | VQDLLPDHEY | KFRVRAINVY | GTSEPSQESE | LTTVGEKPEE | PKDEVEVSDD |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| DEKEPEVDYR | TVTINTEQKV | SDFYDIEERL | GSGKFGQVFR | LVEKKTRKVW | AGKFFKAYSA |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| KEKENIRQEI | SIMNCLHHPK | LVQCVDAFEE | KANIVMVLEI | VSGGELFERI | IDEDFELTER |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| ECIKYMRQIS | EGVEYIHKQG | IVHLDLKPEN | IMCVNKTGTR | IKLIDFGLAR | RLENAGSLKV |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| LFGTPEFVAP | EVINYEPIGY | ATDMWSIGVI | CYILVSGLSP | FMGDNDNETL | ANVTSATWDF |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| DDEAFDEISD | DAKDFISNLL | KKDMKNRLDC | TQCLQHPWLM | KDTKNMEAKK | LSKDRMKKYM |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| ARRKWQKTGN | AVRAIGRLSS | MAMISGLSGR | KSSTGSPTSP | LNAEKLESEE | DVSQAFLEAV |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| AEEKPHVKPY | FSKTIRDLEV | VEGSAARFDC | KIEGYPDPEV | VWFKDDQSIR | ESRHFQIDYD |
| 1870 | 1880 | 1890 | 1900 | 1910 | |
| EDGNCSLIIS | DVCGDDDAKY | TCKAVNSLGE | ATCTAELIVE | TMEEGEGEGE | EEEE |