17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del
| ClinVar |
17 | g.80104814A= | CA2277810653 | GAA | c.228A= (p.Arg76=)
| |
17 | g.80104814A>C | CA401360493 | GAA | c.228A>C (p.Arg76Ser)
| |
17 | g.80104814A>G | CA502402179 | GAA | c.228A>G (p.Arg76=)
| |
17 | g.80104814A>T | CA401360494 | GAA | c.228A>T (p.Arg76Ser)
| |
17 | g.80104816_80104818dup | CA775508124 | GAA | c.230_232dup (p.Ala77_Val78insAla)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104814_80104815insAGC | CA1139665915 | GAA | c.228_229insAGC (p.Arg76_Ala77insSer)
| |
17 | g.80104815G>A | CA401360495 | GAA | c.229G>A (p.Ala77Thr)
| |
17 | g.80104815G>C | CA8814817 | GAA | c.229G>C (p.Ala77Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104815G= | CA2277810654 | GAA | c.229G= (p.Ala77=)
| |
17 | g.80104815G>T | CA401360496 | GAA | c.229G>T (p.Ala77Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104815_80104826delinsGCAGTGCCCACA | CA2277810655 | GAA | c.229_240delinsGCAGTGCCCACA (p.Ala77=)
| |
17 | g.80104816C>A | CA401360497 | GAA | c.230C>A (p.Ala77Glu)
| |
17 | g.80104816C= | CA2277810656 | GAA | c.230C= (p.Ala77=)
| |
17 | g.80104816C>G | CA401360498 | GAA | c.230C>G (p.Ala77Gly)
| |
17 | g.80104816C>T | CA401360499 | GAA | c.230C>T (p.Ala77Val)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104822_80104832del | CA16041880 | GAA | c.236_246del (p.Pro79ArgfsTer13)
| ClinVar dbSNP |
17 | g.80104817A= | CA2277810657 | GAA | c.231A= (p.Ala77=)
| |
17 | g.80104817A>C | CA502402180 | GAA | c.231A>C (p.Ala77=)
| |
17 | g.80104817A>G | CA8814818 | GAA | c.231A>G (p.Ala77=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104817A>T | CA502402181 | GAA | c.231A>T (p.Ala77=)
| |
17 | g.80104818G>A | CA401360500 | GAA | c.232G>A (p.Val78Met)
| |
17 | g.80104818G>C | CA401360501 | GAA | c.232G>C (p.Val78Leu)
| |
17 | g.80104818G>T | CA401360502 | GAA | c.232G>T (p.Val78Leu)
| |
17 | g.80104819T>A | CA401360505 | GAA | c.233T>A (p.Val78Glu)
| |
17 | g.80104819T>C | CA401360504 | GAA | c.233T>C (p.Val78Ala)
| gnomAD v4 |
17 | g.80104819T>G | CA401360503 | GAA | c.233T>G (p.Val78Gly)
| gnomAD v4 |
17 | g.80104820G>A | CA502402182 | GAA | c.234G>A (p.Val78=)
| |
17 | g.80104820G>C | CA502402183 | GAA | c.234G>C (p.Val78=)
| |
17 | g.80104820G= | CA2277810658 | GAA | c.234G= (p.Val78=)
| |
17 | g.80104820G>T | CA502402184 | GAA | c.234G>T (p.Val78=)
| ClinVar dbSNP |
17 | g.80104821C>A | CA401360506 | GAA | c.235C>A (p.Pro79Thr)
| |
17 | g.80104821C= | CA2277810659 | GAA | c.235C= (p.Pro79=)
| |
17 | g.80104821C>G | CA401360507 | GAA | c.235C>G (p.Pro79Ala)
| |
17 | g.80104821C>T | CA8814819 | GAA | c.235C>T (p.Pro79Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104822C>A | CA401360508 | GAA | c.236C>A (p.Pro79His)
| |
17 | g.80104822C>G | CA401360509 | GAA | c.236C>G (p.Pro79Arg)
| |
17 | g.80104822C>T | CA401360510 | GAA | c.236C>T (p.Pro79Leu)
| |
17 | g.80104823C>A | CA502402185 | GAA | c.237C>A (p.Pro79=)
| |
17 | g.80104823C= | CA2277810660 | GAA | c.237C= (p.Pro79=)
| |
17 | g.80104823C>G | CA502402186 | GAA | c.237C>G (p.Pro79=)
| |
17 | g.80104823C>T | CA502402187 | GAA | c.237C>T (p.Pro79=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104824A>C | CA401360511 | GAA | c.238A>C (p.Thr80Pro)
| |
17 | g.80104824A>G | CA401360512 | GAA | c.238A>G (p.Thr80Ala)
| |
17 | g.80104824A>T | CA401360513 | GAA | c.238A>T (p.Thr80Ser)
| |
17 | g.80104825C>A | CA401360514 | GAA | c.239C>A (p.Thr80Lys)
| |
17 | g.80104825C>G | CA401360515 | GAA | c.239C>G (p.Thr80Arg)
| |
17 | g.80104825C>T | CA401360516 | GAA | c.239C>T (p.Thr80Ile)
| gnomAD v4 |
17 | g.80104826A= | CA2277810661 | GAA | c.240A= (p.Thr80=)
| |
17 | g.80104826A>C | CA502402188 | GAA | c.240A>C (p.Thr80=)
| gnomAD v4 |
17 | g.80104826A>G | CA8814820 | GAA | c.240A>G (p.Thr80=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104826A>T | CA502402189 | GAA | c.240A>T (p.Thr80=)
| |
17 | g.80104827C>A | CA401360519 | GAA | c.241C>A (p.Gln81Lys)
| |
17 | g.80104827C= | CA2277810662 | GAA | c.241C= (p.Gln81=)
| |
17 | g.80104827C>G | CA401360517 | GAA | c.241C>G (p.Gln81Glu)
| |
17 | g.80104827C>T | CA401360518 | GAA | c.241C>T (p.Gln81Ter)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104828del | CA2739265767 | GAA | c.242del (p.Gln81ArgfsTer?)
| ClinVar |
17 | g.80104828A= | CA2277810663 | GAA | c.242A= (p.Gln81=)
| |
17 | g.80104828A>C | CA401360520 | GAA | c.242A>C (p.Gln81Pro)
| |
17 | g.80104828A>G | CA401360521 | GAA | c.242A>G (p.Gln81Arg)
| dbSNP |
17 | g.80104828A>T | CA401360522 | GAA | c.242A>T (p.Gln81Leu)
| |
17 | g.80104829G>A | CA502402190 | GAA | c.243G>A (p.Gln81=)
| |
17 | g.80104829G>C | CA401360523 | GAA | c.243G>C (p.Gln81His)
| |
17 | g.80104829G= | CA2277810664 | GAA | c.243G= (p.Gln81=)
| |
17 | g.80104829G>T | CA401360524 | GAA | c.243G>T (p.Gln81His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104830T>A | CA401360525 | GAA | c.244T>A (p.Cys82Ser)
| |
17 | g.80104830T>C | CA401360526 | GAA | c.244T>C (p.Cys82Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104830T>G | CA401360527 | GAA | c.244T>G (p.Cys82Gly)
| gnomAD v4 |
17 | g.80104830T= | CA2277810665 | GAA | c.244T= (p.Cys82=)
| |
17 | g.80104831G>A | CA401360528 | GAA | c.245G>A (p.Cys82Tyr)
| |
17 | g.80104831G>C | CA401360529 | GAA | c.245G>C (p.Cys82Ser)
| |
17 | g.80104831G>T | CA401360530 | GAA | c.245G>T (p.Cys82Phe)
| |
17 | g.80104832C>A | CA401360532 | GAA | c.246C>A (p.Cys82Ter)
| ClinVar dbSNP |
17 | g.80104832C= | CA2277810666 | GAA | c.246C= (p.Cys82=)
| |
17 | g.80104832C>G | CA401360531 | GAA | c.246C>G (p.Cys82Trp)
| |
17 | g.80104832C>T | CA8814821 | GAA | c.246C>T (p.Cys82=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104833G>A | CA8814822 | GAA | c.247G>A (p.Asp83Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104833G>C | CA401360533 | GAA | c.247G>C (p.Asp83His)
| |
17 | g.80104833G= | CA2277810667 | GAA | c.247G= (p.Asp83=)
| |
17 | g.80104833G>T | CA401360534 | GAA | c.247G>T (p.Asp83Tyr)
| |
17 | g.80104834A= | CA2277810668 | GAA | c.248A= (p.Asp83=)
| |
17 | g.80104834A>C | CA401360535 | GAA | c.248A>C (p.Asp83Ala)
| |
17 | g.80104834A>G | CA401360536 | GAA | c.248A>G (p.Asp83Gly)
| |
17 | g.80104834A>T | CA8814823 | GAA | c.248A>T (p.Asp83Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104835C>A | CA401360537 | GAA | c.249C>A (p.Asp83Glu)
| |
17 | g.80104835C= | CA2277810669 | GAA | c.249C= (p.Asp83=)
| |
17 | g.80104835C>G | CA401360538 | GAA | c.249C>G (p.Asp83Glu)
| |
17 | g.80104835C>T | CA8814824 | GAA | c.249C>T (p.Asp83=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104836G>A | CA8814825 | GAA | c.250G>A (p.Val84Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104836G>C | CA401360539 | GAA | c.250G>C (p.Val84Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104836G= | CA2277810670 | GAA | c.250G= (p.Val84=)
| |
17 | g.80104836G>T | CA401360540 | GAA | c.250G>T (p.Val84Phe)
| |
17 | g.80104837T>A | CA401360541 | GAA | c.251T>A (p.Val84Asp)
| |
17 | g.80104837T>C | CA401360543 | GAA | c.251T>C (p.Val84Ala)
| COSMIC |
17 | g.80104837T>G | CA401360542 | GAA | c.251T>G (p.Val84Gly)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104837T= | CA2277810672 | GAA | c.251T= (p.Val84=)
| |
17 | g.80104837_80104838del | CA913014076 | GAA | c.251_252del (p.Val84AlafsTer11)
| |
17 | g.80104837_80104838delinsTC | CA2277810671 | GAA | c.251_252delinsTC (p.Val84=)
| |
17 | g.80104838C>A | CA294886919 | GAA | c.252C>A (p.Val84=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104838C= | CA2277810673 | GAA | c.252C= (p.Val84=)
| |
17 | g.80104838C>G | CA502402191 | GAA | c.252C>G (p.Val84=)
| |
17 | g.80104838C>T | CA8814827 | GAA | c.252C>T (p.Val84=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104844dup | CA8814826 | GAA | c.258dup (p.Asn87GlnfsTer9)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80104844del | CA502402192 | GAA | c.258del (p.Asn87ThrfsTer?)
| ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.80104839C>A | CA401360544 | GAA | c.253C>A (p.Pro85Thr)
| |
17 | g.80104839C>G | CA401360545 | GAA | c.253C>G (p.Pro85Ala)
| |
17 | g.80104839C>T | CA401360546 | GAA | c.253C>T (p.Pro85Ser)
| COSMIC |
17 | g.80104840C>A | CA401360547 | GAA | c.254C>A (p.Pro85His)
| |
17 | g.80104840C>G | CA401360548 | GAA | c.254C>G (p.Pro85Arg)
| |
17 | g.80104840C>T | CA401360549 | GAA | c.254C>T (p.Pro85Leu)
| |
17 | g.80104841C>A | CA502402193 | GAA | c.255C>A (p.Pro85=)
| |
17 | g.80104841C= | CA2277810674 | GAA | c.255C= (p.Pro85=)
| |
17 | g.80104841C>G | CA502402194 | GAA | c.255C>G (p.Pro85=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104841C>T | CA502402195 | GAA | c.255C>T (p.Pro85=)
| dbSNP gnomAD v2 |
17 | g.80104842C>A | CA401360550 | GAA | c.256C>A (p.Pro86Thr)
| dbSNP |
17 | g.80104842C>G | CA401360551 | GAA | c.256C>G (p.Pro86Ala)
| gnomAD v4 |
17 | g.80104842C>T | CA401360552 | GAA | c.256C>T (p.Pro86Ser)
| dbSNP gnomAD v4 |
17 | g.80104843C>A | CA294886928 | GAA | c.257C>A (p.Pro86His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104843C= | CA1139532164 | GAA | c.257C= (p.Pro86=)
| |
17 | g.80104843C>G | CA8814828 | GAA | c.257C>G (p.Pro86Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104843C>T | CA401360553 | GAA | c.257C>T (p.Pro86Leu)
| |
17 | g.80104844C>A | CA8814829 | GAA | c.258C>A (p.Pro86=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104844C= | CA2277810675 | GAA | c.258C= (p.Pro86=)
| |
17 | g.80104844C>G | CA502402197 | GAA | c.258C>G (p.Pro86=)
| ClinVar |
17 | g.80104844C>T | CA502402196 | GAA | c.258C>T (p.Pro86=)
| |
17 | g.80104845A= | CA2277810676 | GAA | c.259A= (p.Asn87=)
| |
17 | g.80104845A>C | CA8814830 | GAA | c.259A>C (p.Asn87His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104845A>G | CA401360555 | GAA | c.259A>G (p.Asn87Asp)
| |
17 | g.80104845A>T | CA401360554 | GAA | c.259A>T (p.Asn87Tyr)
| |
17 | g.80104846A= | CA2277810677 | GAA | c.260A= (p.Asn87=)
| |
17 | g.80104846A>C | CA8814831 | GAA | c.260A>C (p.Asn87Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104846A>G | CA401360556 | GAA | c.260A>G (p.Asn87Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104846A>T | CA401360557 | GAA | c.260A>T (p.Asn87Ile)
| |
17 | g.80104847C>A | CA401360558 | GAA | c.261C>A (p.Asn87Lys)
| |
17 | g.80104847C= | CA2277810678 | GAA | c.261C= (p.Asn87=)
| |
17 | g.80104847C>G | CA294886998 | GAA | c.261C>G (p.Asn87Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104847C>T | CA502402198 | GAA | c.261C>T (p.Asn87=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104848A= | CA2277810679 | GAA | c.262A= (p.Ser88=)
| |
17 | g.80104848A>C | CA401360559 | GAA | c.262A>C (p.Ser88Arg)
| |
17 | g.80104848A>G | CA401360560 | GAA | c.262A>G (p.Ser88Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104848A>T | CA401360561 | GAA | c.262A>T (p.Ser88Cys)
| |
17 | g.80104849G>A | CA401360562 | GAA | c.263G>A (p.Ser88Asn)
| |
17 | g.80104849G>C | CA401360563 | GAA | c.263G>C (p.Ser88Thr)
| |
17 | g.80104849G>T | CA401360564 | GAA | c.263G>T (p.Ser88Ile)
| |
17 | g.80104850C>A | CA401360565 | GAA | c.264C>A (p.Ser88Arg)
| |
17 | g.80104850C= | CA2277810680 | GAA | c.264C= (p.Ser88=)
| |
17 | g.80104850C>G | CA401360566 | GAA | c.264C>G (p.Ser88Arg)
| ClinVar dbSNP |
17 | g.80104850C>T | CA502402199 | GAA | c.264C>T (p.Ser88=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104851C>A | CA401360567 | GAA | c.265C>A (p.Arg89Ser)
| ClinVar gnomAD v4 |
17 | g.80104851C= | CA2277810681 | GAA | c.265C= (p.Arg89=)
| |
17 | g.80104851C>G | CA401360568 | GAA | c.265C>G (p.Arg89Gly)
| |
17 | g.80104851C>T | CA8814832 | GAA | c.265C>T (p.Arg89Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104852G>A | CA8814833 | GAA | c.266G>A (p.Arg89His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104852G>C | CA401360569 | GAA | c.266G>C (p.Arg89Pro)
| |
17 | g.80104852G= | CA2277810682 | GAA | c.266G= (p.Arg89=)
| |
17 | g.80104852G>T | CA401360570 | GAA | c.266G>T (p.Arg89Leu)
| ClinVar |
17 | g.80104853C>A | CA502402200 | GAA | c.267C>A (p.Arg89=)
| |
17 | g.80104853C= | CA2277810683 | GAA | c.267C= (p.Arg89=)
| |
17 | g.80104853C>G | CA502402201 | GAA | c.267C>G (p.Arg89=)
| |
17 | g.80104853C>T | CA502402202 | GAA | c.267C>T (p.Arg89=)
| ClinVar dbSNP |
17 | g.80104854T>A | CA401360571 | GAA | c.268T>A (p.Phe90Ile)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104854T>C | CA8814834 | GAA | c.268T>C (p.Phe90Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104854T>G | CA401360572 | GAA | c.268T>G (p.Phe90Val)
| |
17 | g.80104854T= | CA2277810684 | GAA | c.268T= (p.Phe90=)
| |
17 | g.80104855T>A | CA401360573 | GAA | c.269T>A (p.Phe90Tyr)
| |
17 | g.80104855T>C | CA401360574 | GAA | c.269T>C (p.Phe90Ser)
| |
17 | g.80104855T>G | CA401360575 | GAA | c.269T>G (p.Phe90Cys)
| |
17 | g.80104856C>A | CA401360577 | GAA | c.270C>A (p.Phe90Leu)
| dbSNP |
17 | g.80104856C= | CA2277810685 | GAA | c.270C= (p.Phe90=)
| |
17 | g.80104856C>G | CA401360576 | GAA | c.270C>G (p.Phe90Leu)
| |
17 | g.80104856C>T | CA8814835 | GAA | c.270C>T (p.Phe90=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80104857del | CA658795225 | GAA | c.271del (p.Asp91IlefsTer?)
| |
17 | g.80104857G>A | CA116586 | GAA | c.271G>A (p.Asp91Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104857G>C | CA401360578 | GAA | c.271G>C (p.Asp91His)
| |
17 | g.80104857G= | CA2277810686 | GAA | c.271G= (p.Asp91=)
| |
17 | g.80104857G>T | CA8814836 | GAA | c.271G>T (p.Asp91Tyr)
| ClinVar dbSNP ExAC gnomAD v2 |
17 | g.80104857_80104858delinsAG | CA241285 | GAA | c.271_272delinsAG (p.Asp91Ser)
| ClinVar dbSNP |
17 | g.80104857_80104858delinsGA | CA2277810687 | GAA | c.271_272delinsGA (p.Asp91=)
| |
17 | g.80104858A>C | CA401360579 | GAA | c.272A>C (p.Asp91Ala)
| |
17 | g.80104858A>G | CA401360580 | GAA | c.272A>G (p.Asp91Gly)
| ClinVar gnomAD v4 |
17 | g.80104858A>T | CA401360581 | GAA | c.272A>T (p.Asp91Val)
| |
17 | g.80104859T>A | CA401360582 | GAA | c.273T>A (p.Asp91Glu)
| |
17 | g.80104859T>C | CA502402203 | GAA | c.273T>C (p.Asp91=)
| |
17 | g.80104859T>G | CA401360583 | GAA | c.273T>G (p.Asp91Glu)
| |
17 | g.80104860T>A | CA401360584 | GAA | c.274T>A (p.Cys92Ser)
| |
17 | g.80104860T>C | CA401360585 | GAA | c.274T>C (p.Cys92Arg)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104860T>G | CA401360586 | GAA | c.274T>G (p.Cys92Gly)
| |
17 | g.80104860T= | CA2277810688 | GAA | c.274T= (p.Cys92=)
| |
17 | g.80104861G>A | CA401360589 | GAA | c.275G>A (p.Cys92Tyr)
| gnomAD v4 |
17 | g.80104861G>C | CA401360588 | GAA | c.275G>C (p.Cys92Ser)
| |
17 | g.80104861G>T | CA401360587 | GAA | c.275G>T (p.Cys92Phe)
| |
17 | g.80104862C>A | CA401360590 | GAA | c.276C>A (p.Cys92Ter)
| ClinVar dbSNP |
17 | g.80104862C= | CA2277810689 | GAA | c.276C= (p.Cys92=)
| |
17 | g.80104862C>G | CA401360591 | GAA | c.276C>G (p.Cys92Trp)
| |
17 | g.80104862C>T | CA502402204 | GAA | c.276C>T (p.Cys92=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104863G>A | CA8814837 | GAA | c.277G>A (p.Ala93Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104863G>C | CA401360593 | GAA | c.277G>C (p.Ala93Pro)
| gnomAD v4 |
17 | g.80104863G= | CA2277810690 | GAA | c.277G= (p.Ala93=)
| |
17 | g.80104863G>T | CA401360592 | GAA | c.277G>T (p.Ala93Ser)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104864C>A | CA401360594 | GAA | c.278C>A (p.Ala93Asp)
| gnomAD v4 |
17 | g.80104864C= | CA2277810691 | GAA | c.278C= (p.Ala93=)
| |
17 | g.80104864C>G | CA401360595 | GAA | c.278C>G (p.Ala93Gly)
| |
17 | g.80104864C>T | CA401360596 | GAA | c.278C>T (p.Ala93Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104867del | CA645599494 | GAA | c.281del (p.Pro94LeufsTer?)
| COSMIC |
17 | g.80104865C>A | CA502402206 | GAA | c.279C>A (p.Ala93=)
| |
17 | g.80104865C>G | CA502402207 | GAA | c.279C>G (p.Ala93=)
| |
17 | g.80104865C>T | CA502402208 | GAA | c.279C>T (p.Ala93=)
| gnomAD v4 |
17 | g.80104866C>A | CA8814838 | GAA | c.280C>A (p.Pro94Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104866C= | CA2277810692 | GAA | c.280C= (p.Pro94=)
| |
17 | g.80104866C>G | CA401360597 | GAA | c.280C>G (p.Pro94Ala)
| |
17 | g.80104866C>T | CA401360598 | GAA | c.280C>T (p.Pro94Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104866_80104868delinsCCT | CA2277810693 | GAA | c.280_282delinsCCT (p.Pro94=)
| |
17 | g.80104867C>A | CA401360599 | GAA | c.281C>A (p.Pro94His)
| |
17 | g.80104867C>G | CA401360600 | GAA | c.281C>G (p.Pro94Arg)
| |
17 | g.80104867C>T | CA401360601 | GAA | c.281C>T (p.Pro94Leu)
| |
17 | g.80104867_80104868del | CA16041881 | GAA | c.281_282del (p.Pro94ArgfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104868del | CA2499224998 | GAA | c.282del (p.Asp95ThrfsTer?)
| ClinVar dbSNP |
17 | g.80104868T>A | CA502402209 | GAA | c.282T>A (p.Pro94=)
| |
17 | g.80104868T>C | CA502402210 | GAA | c.282T>C (p.Pro94=)
| ClinVar dbSNP |
17 | g.80104868T>G | CA502402211 | GAA | c.282T>G (p.Pro94=)
| |
17 | g.80104868T= | CA2277810694 | GAA | c.282T= (p.Pro94=)
| |
17 | g.80104869G>A | CA401360604 | GAA | c.283G>A (p.Asp95Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104869G>C | CA401360603 | GAA | c.283G>C (p.Asp95His)
| |
17 | g.80104869G= | CA2277810695 | GAA | c.283G= (p.Asp95=)
| |
17 | g.80104869G>T | CA401360602 | GAA | c.283G>T (p.Asp95Tyr)
| COSMIC |
17 | g.80104870A>C | CA401360605 | GAA | c.284A>C (p.Asp95Ala)
| |
17 | g.80104870A>G | CA401360606 | GAA | c.284A>G (p.Asp95Gly)
| |
17 | g.80104870A>T | CA401360607 | GAA | c.284A>T (p.Asp95Val)
| |
17 | g.80104871C>A | CA401360608 | GAA | c.285C>A (p.Asp95Glu)
| |
17 | g.80104871C= | CA2277810696 | GAA | c.285C= (p.Asp95=)
| |
17 | g.80104871C>G | CA401360609 | GAA | c.285C>G (p.Asp95Glu)
| dbSNP |
17 | g.80104871C>T | CA8814839 | GAA | c.285C>T (p.Asp95=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104872A= | CA2277810697 | GAA | c.286A= (p.Lys96=)
| |
17 | g.80104872A>C | CA401360610 | GAA | c.286A>C (p.Lys96Gln)
| dbSNP gnomAD v4 |
17 | g.80104872A>G | CA8814840 | GAA | c.286A>G (p.Lys96Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104872A>T | CA401360611 | GAA | c.286A>T (p.Lys96Ter)
| |
17 | g.80104873A>C | CA401360612 | GAA | c.287A>C (p.Lys96Thr)
| |
17 | g.80104873A>G | CA401360613 | GAA | c.287A>G (p.Lys96Arg)
| |
17 | g.80104873A>T | CA401360614 | GAA | c.287A>T (p.Lys96Met)
| |
17 | g.80104874G>A | CA502402212 | GAA | c.288G>A (p.Lys96=)
| |
17 | g.80104874G>C | CA401360616 | GAA | c.288G>C (p.Lys96Asn)
| gnomAD v4 |
17 | g.80104874G>T | CA401360615 | GAA | c.288G>T (p.Lys96Asn)
| |
17 | g.80104875G>A | CA401360617 | GAA | c.289G>A (p.Ala97Thr)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104875G>C | CA401360618 | GAA | c.289G>C (p.Ala97Pro)
| |
17 | g.80104875G>T | CA401360619 | GAA | c.289G>T (p.Ala97Ser)
| gnomAD v4 |
17 | g.80104876C>A | CA401360620 | GAA | c.290C>A (p.Ala97Asp)
| |
17 | g.80104876C= | CA2277810698 | GAA | c.290C= (p.Ala97=)
| |
17 | g.80104876C>G | CA401360621 | GAA | c.290C>G (p.Ala97Gly)
| |
17 | g.80104876C>T | CA401360622 | GAA | c.290C>T (p.Ala97Val)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104877C>A | CA502402215 | GAA | c.291C>A (p.Ala97=)
| |
17 | g.80104877C>G | CA502402213 | GAA | c.291C>G (p.Ala97=)
| |
17 | g.80104877C>T | CA502402214 | GAA | c.291C>T (p.Ala97=)
| |
17 | g.80104878A= | CA2277810699 | GAA | c.292A= (p.Ile98=)
| |
17 | g.80104878A>C | CA401360623 | GAA | c.292A>C (p.Ile98Leu)
| |
17 | g.80104878A>G | CA401360624 | GAA | c.292A>G (p.Ile98Val)
| gnomAD v4 |
17 | g.80104878A>T | CA8814841 | GAA | c.292A>T (p.Ile98Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.80104879T>A | CA401360625 | GAA | c.293T>A (p.Ile98Asn)
| |
17 | g.80104879T>C | CA401360626 | GAA | c.293T>C (p.Ile98Thr)
| |
17 | g.80104879T>G | CA401360627 | GAA | c.293T>G (p.Ile98Ser)
| |
17 | g.80104880C>A | CA502402216 | GAA | c.294C>A (p.Ile98=)
| |
17 | g.80104880C>G | CA401360628 | GAA | c.294C>G (p.Ile98Met)
| |
17 | g.80104880C>T | CA502402217 | GAA | c.294C>T (p.Ile98=)
| gnomAD v4 |
17 | g.80104881_80104900del | CA2640275279 | GAA | c.295_314del (p.Thr99ProfsTer?)
| gnomAD v4 |
17 | g.80104881A>C | CA401360632 | GAA | c.295A>C (p.Thr99Pro)
| gnomAD v4 |
17 | g.80104881A>G | CA401360629 | GAA | c.295A>G (p.Thr99Ala)
| |
17 | g.80104881A>T | CA401360630 | GAA | c.295A>T (p.Thr99Ser)
| |
17 | g.80104882C>A | CA401360634 | GAA | c.296C>A (p.Thr99Asn)
| |
17 | g.80104882C= | CA2277810700 | GAA | c.296C= (p.Thr99=)
| |
17 | g.80104882C>G | CA401360636 | GAA | c.296C>G (p.Thr99Ser)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104882C>T | CA401360637 | GAA | c.296C>T (p.Thr99Ile)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104883C>A | CA502402218 | GAA | c.297C>A (p.Thr99=)
| |
17 | g.80104883C= | CA2277810701 | GAA | c.297C= (p.Thr99=)
| |
17 | g.80104883C>G | CA16607528 | GAA | c.297C>G (p.Thr99=)
| ClinVar dbSNP |
17 | g.80104883C>T | CA8814842 | GAA | c.297C>T (p.Thr99=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104884C>A | CA401360641 | GAA | c.298C>A (p.Gln100Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104884C= | CA2277810702 | GAA | c.298C= (p.Gln100=)
| |
17 | g.80104884C>G | CA8814843 | GAA | c.298C>G (p.Gln100Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104884C>T | CA401360643 | GAA | c.298C>T (p.Gln100Ter)
| |
17 | g.80104885A= | CA2277810703 | GAA | c.299A= (p.Gln100=)
| |
17 | g.80104885A>C | CA401360646 | GAA | c.299A>C (p.Gln100Pro)
| |
17 | g.80104885A>G | CA401360648 | GAA | c.299A>G (p.Gln100Arg)
| dbSNP gnomAD v4 |
17 | g.80104885A>T | CA401360650 | GAA | c.299A>T (p.Gln100Leu)
| |
17 | g.80104886G>A | CA502402219 | GAA | c.300G>A (p.Gln100=)
| ClinVar dbSNP |
17 | g.80104886G>C | CA401360652 | GAA | c.300G>C (p.Gln100His)
| |
17 | g.80104886G>T | CA401360654 | GAA | c.300G>T (p.Gln100His)
| gnomAD v4 |
17 | g.80104887G>A | CA401360658 | GAA | c.301G>A (p.Glu101Lys)
| |
17 | g.80104887G>C | CA401360660 | GAA | c.301G>C (p.Glu101Gln)
| |
17 | g.80104887G>T | CA401360656 | GAA | c.301G>T (p.Glu101Ter)
| ClinVar dbSNP |
17 | g.80104888A>C | CA401360662 | GAA | c.302A>C (p.Glu101Ala)
| |
17 | g.80104888A>G | CA401360664 | GAA | c.302A>G (p.Glu101Gly)
| |
17 | g.80104888A>T | CA401360665 | GAA | c.302A>T (p.Glu101Val)
| |
17 | g.80104889A>C | CA401360667 | GAA | c.303A>C (p.Glu101Asp)
| |
17 | g.80104889A>G | CA502402220 | GAA | c.303A>G (p.Glu101=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104889A>T | CA401360668 | GAA | c.303A>T (p.Glu101Asp)
| |
17 | g.80104890C>A | CA401360670 | GAA | c.304C>A (p.Gln102Lys)
| |
17 | g.80104890C= | CA2277810704 | GAA | c.304C= (p.Gln102=)
| |
17 | g.80104890C>G | CA401360672 | GAA | c.304C>G (p.Gln102Glu)
| |
17 | g.80104890C>T | CA401360674 | GAA | c.304C>T (p.Gln102Ter)
| ClinVar dbSNP gnomAD v2 |
17 | g.80104891A>C | CA401360675 | GAA | c.305A>C (p.Gln102Pro)
| |
17 | g.80104891A>G | CA401360677 | GAA | c.305A>G (p.Gln102Arg)
| gnomAD v4 |
17 | g.80104891A>T | CA401360679 | GAA | c.305A>T (p.Gln102Leu)
| |
17 | g.80104892G>A | CA502402221 | GAA | c.306G>A (p.Gln102=)
| gnomAD v4 |
17 | g.80104892G>C | CA401360681 | GAA | c.306G>C (p.Gln102His)
| |
17 | g.80104892G>T | CA401360682 | GAA | c.306G>T (p.Gln102His)
| |
17 | g.80104893T>A | CA401360687 | GAA | c.307T>A (p.Cys103Ser)
| |
17 | g.80104893T>C | CA401360685 | GAA | c.307T>C (p.Cys103Arg)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104893T>G | CA220404 | GAA | c.307T>G (p.Cys103Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104893T= | CA2277810705 | GAA | c.307T= (p.Cys103=)
| |
17 | g.80104894G>A | CA401360690 | GAA | c.308G>A (p.Cys103Tyr)
| ClinVar dbSNP |
17 | g.80104894G>C | CA401360691 | GAA | c.308G>C (p.Cys103Ser)
| |
17 | g.80104894G>T | CA401360693 | GAA | c.308G>T (p.Cys103Phe)
| |
17 | g.80104895C>A | CA401360695 | GAA | c.309C>A (p.Cys103Ter)
| ClinVar dbSNP |
17 | g.80104895C= | CA2277810706 | GAA | c.309C= (p.Cys103=)
| |
17 | g.80104895C>G | CA401360696 | GAA | c.309C>G (p.Cys103Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.80104895C>T | CA8814844 | GAA | c.309C>T (p.Cys103=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104895_80104898delinsCGAG | CA2277810707 | GAA | c.309_312delinsCGAG (p.Cys103=)
| |
17 | g.80104896G>A | CA8814846 | GAA | c.310G>A (p.Glu104Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104896G>C | CA8814845 | GAA | c.310G>C (p.Glu104Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104896G= | CA2277810708 | GAA | c.310G= (p.Glu104=)
| |
17 | g.80104896G>T | CA401360700 | GAA | c.310G>T (p.Glu104Ter)
| |
17 | g.80104897_80104899del | CA916082437 | GAA | c.311_313del (p.Glu104del)
| ClinVar dbSNP |
17 | g.80104897A>C | CA401360702 | GAA | c.311A>C (p.Glu104Ala)
| |
17 | g.80104897A>G | CA401360703 | GAA | c.311A>G (p.Glu104Gly)
| |
17 | g.80104897A>T | CA401360704 | GAA | c.311A>T (p.Glu104Val)
| |
17 | g.80104898G>A | CA502402222 | GAA | c.312G>A (p.Glu104=)
| dbSNP gnomAD v2 |
17 | g.80104898G>C | CA401360707 | GAA | c.312G>C (p.Glu104Asp)
| |
17 | g.80104898G= | CA2277810709 | GAA | c.312G= (p.Glu104=)
| |
17 | g.80104898G>T | CA401360709 | GAA | c.312G>T (p.Glu104Asp)
| gnomAD v4 |
17 | g.80104899G>A | CA401360713 | GAA | c.313G>A (p.Ala105Thr)
| gnomAD v4 |
17 | g.80104899G>C | CA401360715 | GAA | c.313G>C (p.Ala105Pro)
| |
17 | g.80104899G>T | CA401360712 | GAA | c.313G>T (p.Ala105Ser)
| gnomAD v4 |
17 | g.80104900C>A | CA8814847 | GAA | c.314C>A (p.Ala105Asp)
| dbSNP ExAC |
17 | g.80104900C= | CA2277810710 | GAA | c.314C= (p.Ala105=)
| |
17 | g.80104900C>G | CA401360718 | GAA | c.314C>G (p.Ala105Gly)
| |
17 | g.80104900C>T | CA8814848 | GAA | c.314C>T (p.Ala105Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104901C>A | CA502402223 | GAA | c.315C>A (p.Ala105=)
| |
17 | g.80104901C>G | CA502402224 | GAA | c.315C>G (p.Ala105=)
| |
17 | g.80104901C>T | CA502402225 | GAA | c.315C>T (p.Ala105=)
| |
17 | g.80104902C>A | CA401360722 | GAA | c.316C>A (p.Arg106Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104902C= | CA2277810711 | GAA | c.316C= (p.Arg106=)
| |
17 | g.80104902C>G | CA401360724 | GAA | c.316C>G (p.Arg106Gly)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104902C>T | CA294887086 | GAA | c.316C>T (p.Arg106Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104903G>A | CA8814849 | GAA | c.317G>A (p.Arg106His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104903G>C | CA401360727 | GAA | c.317G>C (p.Arg106Pro)
| |
17 | g.80104903G= | CA2277810712 | GAA | c.317G= (p.Arg106=)
| |
17 | g.80104903G>T | CA401360728 | GAA | c.317G>T (p.Arg106Leu)
| |
17 | g.80104904_80104909dup | CA2573154941 | GAA | c.318_323dup (p.Cys108_Cys109insGlyCys)
| ClinVar dbSNP |
17 | g.80104904C>A | CA502402226 | GAA | c.318C>A (p.Arg106=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104904C= | CA2277810713 | GAA | c.318C= (p.Arg106=)
| |
17 | g.80104904C>G | CA502402227 | GAA | c.318C>G (p.Arg106=)
| |
17 | g.80104904C>T | CA241288 | GAA | c.318C>T (p.Arg106=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80104905G>A | CA8814850 | GAA | c.319G>A (p.Gly107Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104905G>C | CA401360731 | GAA | c.319G>C (p.Gly107Arg)
| |
17 | g.80104905G= | CA2277810714 | GAA | c.319G= (p.Gly107=)
| |
17 | g.80104905G>T | CA294887102 | GAA | c.319G>T (p.Gly107Cys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104906G>A | CA401360737 | GAA | c.320G>A (p.Gly107Asp)
| dbSNP gnomAD v2 |
17 | g.80104906G>C | CA401360734 | GAA | c.320G>C (p.Gly107Ala)
| |
17 | g.80104906G= | CA2277810715 | GAA | c.320G= (p.Gly107=)
| |
17 | g.80104906G>T | CA401360736 | GAA | c.320G>T (p.Gly107Val)
| |
17 | g.80104907C>A | CA502402228 | GAA | c.321C>A (p.Gly107=)
| |
17 | g.80104907C>G | CA502402230 | GAA | c.321C>G (p.Gly107=)
| |
17 | g.80104907C>T | CA502402229 | GAA | c.321C>T (p.Gly107=)
| |
17 | g.80104908T>A | CA401360738 | GAA | c.322T>A (p.Cys108Ser)
| ClinVar dbSNP |
17 | g.80104908T>C | CA401360740 | GAA | c.322T>C (p.Cys108Arg)
| |
17 | g.80104908T>G | CA401360742 | GAA | c.322T>G (p.Cys108Gly)
| |
17 | g.80104908T= | CA2277810716 | GAA | c.322T= (p.Cys108=)
| |
17 | g.80104909G>A | CA401360744 | GAA | c.323G>A (p.Cys108Tyr)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104909G>C | CA401360745 | GAA | c.323G>C (p.Cys108Ser)
| |
17 | g.80104909G= | CA2277810717 | GAA | c.323G= (p.Cys108=)
| |
17 | g.80104909G>T | CA401360747 | GAA | c.323G>T (p.Cys108Phe)
| gnomAD v4 |
17 | g.80104909_80104910delinsAC | CA2695227063 | GAA | c.323_324delinsAC (p.Cys108Tyr)
| |
17 | g.80104910T>A | CA401360749 | GAA | c.324T>A (p.Cys108Ter)
| dbSNP gnomAD v4 |
17 | g.80104910T>C | CA145781 | GAA | c.324T>C (p.Cys108=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104910T>G | CA401360751 | GAA | c.324T>G (p.Cys108Trp)
| dbSNP |
17 | g.80104910T= | CA2277810718 | GAA | c.324T= (p.Cys108=)
| |
17 | g.80104911T>A | CA401360754 | GAA | c.325T>A (p.Cys109Ser)
| |
17 | g.80104911T>C | CA294887113 | GAA | c.325T>C (p.Cys109Arg)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104911T>G | CA401360756 | GAA | c.325T>G (p.Cys109Gly)
| |
17 | g.80104911T= | CA2277810719 | GAA | c.325T= (p.Cys109=)
| |
17 | g.80104912G>A | CA401360760 | GAA | c.326G>A (p.Cys109Tyr)
| gnomAD v4 |
17 | g.80104912G>C | CA401360761 | GAA | c.326G>C (p.Cys109Ser)
| |
17 | g.80104912G>T | CA401360758 | GAA | c.326G>T (p.Cys109Phe)
| |
17 | g.80104913C>A | CA401360765 | GAA | c.327C>A (p.Cys109Ter)
| gnomAD v4 |
17 | g.80104913C>G | CA401360763 | GAA | c.327C>G (p.Cys109Trp)
| |
17 | g.80104913C>T | CA502402231 | GAA | c.327C>T (p.Cys109=)
| |
17 | g.80104914T>A | CA401360768 | GAA | c.328T>A (p.Tyr110Asn)
| |
17 | g.80104914T>C | CA8814851 | GAA | c.328T>C (p.Tyr110His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104914T>G | CA401360769 | GAA | c.328T>G (p.Tyr110Asp)
| |
17 | g.80104914T= | CA2277810720 | GAA | c.328T= (p.Tyr110=)
| |