Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.230710334A>C | CA345206464 | AGT | c.490T>G (p.Ser164Ala) n.1001T>G c.517T>G (p.Ser173Ala) | |
1 | g.230710334A>G | CA345206467 | AGT | c.490T>C (p.Ser164Pro) n.1001T>C c.517T>C (p.Ser173Pro) | COSMIC |
1 | g.230710334A>T | CA345206466 | AGT | c.490T>A (p.Ser164Thr) n.1001T>A c.517T>A (p.Ser173Thr) | |
1 | g.230710335G>A | CA1448288 | AGT | c.489C>T (p.Thr163=) n.1000C>T c.516C>T (p.Thr172=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710335G>C | CA424036628 | AGT | c.489C>G (p.Thr163=) n.1000C>G c.516C>G (p.Thr172=) | |
1 | g.230710335G= | CA1226669698 | AGT | c.489C= (p.Thr163=) n.1000C= c.516C= (p.Thr172=) | |
1 | g.230710335G>T | CA424036629 | AGT | c.489C>A (p.Thr163=) n.1000C>A c.516C>A (p.Thr172=) | |
1 | g.230710336G>A | CA345206470 | AGT | c.488C>T (p.Thr163Ile) n.999C>T c.515C>T (p.Thr172Ile) | dbSNP gnomAD v4 |
1 | g.230710336G>C | CA345206471 | AGT | c.488C>G (p.Thr163Ser) n.999C>G c.515C>G (p.Thr172Ser) | |
1 | g.230710336G= | CA1226669699 | AGT | c.488C= (p.Thr163=) n.999C= c.515C= (p.Thr172=) | |
1 | g.230710336G>T | CA345206472 | AGT | c.488C>A (p.Thr163Asn) n.999C>A c.515C>A (p.Thr172Asn) | dbSNP gnomAD v4 |
1 | g.230710337T>A | CA345206473 | AGT | c.487A>T (p.Thr163Ser) n.998A>T c.514A>T (p.Thr172Ser) | |
1 | g.230710337T>C | CA345206476 | AGT | c.487A>G (p.Thr163Ala) n.998A>G c.514A>G (p.Thr172Ala) | |
1 | g.230710337T>G | CA345206475 | AGT | c.487A>C (p.Thr163Pro) n.998A>C c.514A>C (p.Thr172Pro) | |
1 | g.230710338G>A | CA424036634 | AGT | c.486C>T (p.Cys162=) n.997C>T c.513C>T (p.Cys171=) | |
1 | g.230710338G>C | CA345206478 | AGT | c.486C>G (p.Cys162Trp) n.997C>G c.513C>G (p.Cys171Trp) | |
1 | g.230710338G= | CA1226669700 | AGT | c.486C= (p.Cys162=) n.997C= c.513C= (p.Cys171=) | |
1 | g.230710338G>T | CA345206479 | AGT | c.486C>A (p.Cys162Ter) n.997C>A c.513C>A (p.Cys171Ter) | |
1 | g.230710339C>A | CA345206481 | AGT | c.485G>T (p.Cys162Phe) n.996G>T c.512G>T (p.Cys171Phe) | |
1 | g.230710339C= | CA1226669701 | AGT | c.485G= (p.Cys162=) n.996G= c.512G= (p.Cys171=) | |
1 | g.230710339C>G | CA345206483 | AGT | c.485G>C (p.Cys162Ser) n.996G>C c.512G>C (p.Cys171Ser) | |
1 | g.230710339C>T | CA345206485 | AGT | c.485G>A (p.Cys162Tyr) n.996G>A c.512G>A (p.Cys171Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710340_230710353dup | CA891862742 | AGT | c.472_485dup (p.Cys162Ter) n.983_996dup c.499_512dup (p.Cys171Ter) | ClinVar dbSNP |
1 | g.230710340A>C | CA345206486 | AGT | c.484T>G (p.Cys162Gly) n.995T>G c.511T>G (p.Cys171Gly) | |
1 | g.230710340A>G | CA345206487 | AGT | c.484T>C (p.Cys162Arg) n.995T>C c.511T>C (p.Cys171Arg) | gnomAD v4 |
1 | g.230710340A>T | CA345206488 | AGT | c.484T>A (p.Cys162Ser) n.995T>A c.511T>A (p.Cys171Ser) | |
1 | g.230710341G>A | CA424036638 | AGT | c.483C>T (p.Asn161=) n.994C>T c.510C>T (p.Asn170=) | |
1 | g.230710341G>C | CA345206490 | AGT | c.483C>G (p.Asn161Lys) n.994C>G c.510C>G (p.Asn170Lys) | |
1 | g.230710341G>T | CA345206492 | AGT | c.483C>A (p.Asn161Lys) n.994C>A c.510C>A (p.Asn170Lys) | |
1 | g.230710342T>A | CA345206494 | AGT | c.482A>T (p.Asn161Ile) n.993A>T c.509A>T (p.Asn170Ile) | |
1 | g.230710342T>C | CA345206495 | AGT | c.482A>G (p.Asn161Ser) n.993A>G c.509A>G (p.Asn170Ser) | dbSNP gnomAD v2 |
1 | g.230710342T>G | CA345206496 | AGT | c.482A>C (p.Asn161Thr) n.993A>C c.509A>C (p.Asn170Thr) | |
1 | g.230710342T= | CA1226669702 | AGT | c.482A= (p.Asn161=) n.993A= c.509A= (p.Asn170=) | |
1 | g.230710343T>A | CA345206500 | AGT | c.481A>T (p.Asn161Tyr) n.992A>T c.508A>T (p.Asn170Tyr) | |
1 | g.230710343T>C | CA38871743 | AGT | c.481A>G (p.Asn161Asp) n.992A>G c.508A>G (p.Asn170Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710343T>G | CA345206498 | AGT | c.481A>C (p.Asn161His) n.992A>C c.508A>C (p.Asn170His) | |
1 | g.230710343T= | CA1226669703 | AGT | c.481A= (p.Asn161=) n.992A= c.508A= (p.Asn170=) | |
1 | g.230710344C>A | CA345206503 | AGT | c.480G>T (p.Lys160Asn) n.991G>T c.507G>T (p.Lys169Asn) | |
1 | g.230710344C>G | CA345206502 | AGT | c.480G>C (p.Lys160Asn) n.991G>C c.507G>C (p.Lys169Asn) | |
1 | g.230710344C>T | CA424036644 | AGT | c.480G>A (p.Lys160=) n.991G>A c.507G>A (p.Lys169=) | |
1 | g.230710345T>A | CA345206507 | AGT | c.479A>T (p.Lys160Met) n.990A>T c.506A>T (p.Lys169Met) | |
1 | g.230710345T>C | CA345206505 | AGT | c.479A>G (p.Lys160Arg) n.990A>G c.506A>G (p.Lys169Arg) | |
1 | g.230710345T>G | CA345206509 | AGT | c.479A>C (p.Lys160Thr) n.990A>C c.506A>C (p.Lys169Thr) | |
1 | g.230710346T>A | CA345206510 | AGT | c.478A>T (p.Lys160Ter) n.989A>T c.505A>T (p.Lys169Ter) | |
1 | g.230710346T>C | CA345206513 | AGT | c.478A>G (p.Lys160Glu) n.989A>G c.505A>G (p.Lys169Glu) | |
1 | g.230710346T>G | CA345206511 | AGT | c.478A>C (p.Lys160Gln) n.989A>C c.505A>C (p.Lys169Gln) | |
1 | g.230710347G>A | CA424036656 | AGT | c.477C>T (p.Asp159=) n.988C>T c.504C>T (p.Asp168=) | dbSNP |
1 | g.230710347G>C | CA345206515 | AGT | c.477C>G (p.Asp159Glu) n.988C>G c.504C>G (p.Asp168Glu) | |
1 | g.230710347G= | CA1144871954 | AGT | c.477C= (p.Asp159=) n.988C= c.504C= (p.Asp168=) | |
1 | g.230710347G>T | CA1448289 | AGT | c.477C>A (p.Asp159Glu) n.988C>A c.504C>A (p.Asp168Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710348T>A | CA345206517 | AGT | c.476A>T (p.Asp159Val) n.987A>T c.503A>T (p.Asp168Val) | gnomAD v4 |
1 | g.230710348T>C | CA345206518 | AGT | c.476A>G (p.Asp159Gly) n.987A>G c.503A>G (p.Asp168Gly) | dbSNP gnomAD v4 |
1 | g.230710348T>G | CA345206520 | AGT | c.476A>C (p.Asp159Ala) n.987A>C c.503A>C (p.Asp168Ala) | |
1 | g.230710348T= | CA1226669704 | AGT | c.476A= (p.Asp159=) n.987A= c.503A= (p.Asp168=) | |
1 | g.230710349C>A | CA1448290 | AGT | c.475G>T (p.Asp159Tyr) n.986G>T c.502G>T (p.Asp168Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710349C= | CA1226669705 | AGT | c.475G= (p.Asp159=) n.986G= c.502G= (p.Asp168=) | |
1 | g.230710349C>G | CA345206522 | AGT | c.475G>C (p.Asp159His) n.986G>C c.502G>C (p.Asp168His) | |
1 | g.230710349C>T | CA345206524 | AGT | c.475G>A (p.Asp159Asn) n.986G>A c.502G>A (p.Asp168Asn) | |
1 | g.230710350C>A | CA345206526 | AGT | c.474G>T (p.Lys158Asn) n.985G>T c.501G>T (p.Lys167Asn) | |
1 | g.230710350C>G | CA345206528 | AGT | c.474G>C (p.Lys158Asn) n.985G>C c.501G>C (p.Lys167Asn) | |
1 | g.230710350C>T | CA424036659 | AGT | c.474G>A (p.Lys158=) n.985G>A c.501G>A (p.Lys167=) | |
1 | g.230710351T>A | CA345206530 | AGT | c.473A>T (p.Lys158Met) n.984A>T c.500A>T (p.Lys167Met) | |
1 | g.230710351T>C | CA345206531 | AGT | c.473A>G (p.Lys158Arg) n.984A>G c.500A>G (p.Lys167Arg) | |
1 | g.230710351T>G | CA345206532 | AGT | c.473A>C (p.Lys158Thr) n.984A>C c.500A>C (p.Lys167Thr) | |
1 | g.230710352T>A | CA345206536 | AGT | c.472A>T (p.Lys158Ter) n.983A>T c.499A>T (p.Lys167Ter) | |
1 | g.230710352T>C | CA345206535 | AGT | c.472A>G (p.Lys158Glu) n.983A>G c.499A>G (p.Lys167Glu) | |
1 | g.230710352T>G | CA345206534 | AGT | c.472A>C (p.Lys158Gln) n.983A>C c.499A>C (p.Lys167Gln) | |
1 | g.230710353C>A | CA345206538 | AGT | c.471G>T (p.Trp157Cys) n.982G>T c.498G>T (p.Trp166Cys) | |
1 | g.230710353C>G | CA345206539 | AGT | c.471G>C (p.Trp157Cys) n.982G>C c.498G>C (p.Trp166Cys) | |
1 | g.230710353C>T | CA345206540 | AGT | c.471G>A (p.Trp157Ter) n.982G>A c.498G>A (p.Trp166Ter) | |
1 | g.230710354C>A | CA345206542 | AGT | c.470G>T (p.Trp157Leu) n.981G>T c.497G>T (p.Trp166Leu) | |
1 | g.230710354C>G | CA345206543 | AGT | c.470G>C (p.Trp157Ser) n.981G>C c.497G>C (p.Trp166Ser) | |
1 | g.230710354C>T | CA345206545 | AGT | c.470G>A (p.Trp157Ter) n.981G>A c.497G>A (p.Trp166Ter) | |
1 | g.230710355A>C | CA345206546 | AGT | c.469T>G (p.Trp157Gly) n.980T>G c.496T>G (p.Trp166Gly) | |
1 | g.230710355A>G | CA345206548 | AGT | c.469T>C (p.Trp157Arg) n.980T>C c.496T>C (p.Trp166Arg) | |
1 | g.230710355A>T | CA345206549 | AGT | c.469T>A (p.Trp157Arg) n.980T>A c.496T>A (p.Trp166Arg) | |
1 | g.230710356A>C | CA424036670 | AGT | c.468T>G (p.Pro156=) n.979T>G c.495T>G (p.Pro165=) | |
1 | g.230710356A>G | CA424036671 | AGT | c.468T>C (p.Pro156=) n.979T>C c.495T>C (p.Pro165=) | |
1 | g.230710356A>T | CA424036672 | AGT | c.468T>A (p.Pro156=) n.979T>A c.495T>A (p.Pro165=) | |
1 | g.230710357G>A | CA345206550 | AGT | c.467C>T (p.Pro156Leu) n.978C>T c.494C>T (p.Pro165Leu) | |
1 | g.230710357G>C | CA345206551 | AGT | c.467C>G (p.Pro156Arg) n.978C>G c.494C>G (p.Pro165Arg) | |
1 | g.230710357G>T | CA345206553 | AGT | c.467C>A (p.Pro156His) n.978C>A c.494C>A (p.Pro165His) | |
1 | g.230710358G>A | CA345206558 | AGT | c.466C>T (p.Pro156Ser) n.977C>T c.493C>T (p.Pro165Ser) | |
1 | g.230710358G>C | CA345206557 | AGT | c.466C>G (p.Pro156Ala) n.977C>G c.493C>G (p.Pro165Ala) | |
1 | g.230710358G>T | CA345206555 | AGT | c.466C>A (p.Pro156Thr) n.977C>A c.493C>A (p.Pro165Thr) | |
1 | g.230710359A>C | CA424036681 | AGT | c.465T>G (p.Val155=) n.976T>G c.492T>G (p.Val164=) | |
1 | g.230710359A>G | CA424036683 | AGT | c.465T>C (p.Val155=) n.976T>C c.492T>C (p.Val164=) | |
1 | g.230710359A>T | CA424036684 | AGT | c.465T>A (p.Val155=) n.976T>A c.492T>A (p.Val164=) | |
1 | g.230710360A>C | CA345206560 | AGT | c.464T>G (p.Val155Gly) n.975T>G c.491T>G (p.Val164Gly) | |
1 | g.230710360A>G | CA345206561 | AGT | c.464T>C (p.Val155Ala) n.975T>C c.491T>C (p.Val164Ala) | |
1 | g.230710360A>T | CA345206562 | AGT | c.464T>A (p.Val155Asp) n.975T>A c.491T>A (p.Val164Asp) | |
1 | g.230710361C>A | CA345206564 | AGT | c.463G>T (p.Val155Phe) n.974G>T c.490G>T (p.Val164Phe) | |
1 | g.230710361C= | CA1226669706 | AGT | c.463G= (p.Val155=) n.974G= c.490G= (p.Val164=) | |
1 | g.230710361C>G | CA345206565 | AGT | c.463G>C (p.Val155Leu) n.974G>C c.490G>C (p.Val164Leu) | |
1 | g.230710361C>T | CA1448291 | AGT | c.463G>A (p.Val155Ile) n.974G>A c.490G>A (p.Val164Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710362A= | CA1226669707 | AGT | c.462T= (p.Gly154=) n.973T= c.489T= (p.Gly163=) | |
1 | g.230710362A>C | CA424036690 | AGT | c.462T>G (p.Gly154=) n.973T>G c.489T>G (p.Gly163=) | dbSNP gnomAD v4 |
1 | g.230710362A>G | CA424036691 | AGT | c.462T>C (p.Gly154=) n.973T>C c.489T>C (p.Gly163=) | |
1 | g.230710362A>T | CA424036692 | AGT | c.462T>A (p.Gly154=) n.973T>A c.489T>A (p.Gly163=) | |
1 | g.230710363C>A | CA345206568 | AGT | c.461G>T (p.Gly154Val) n.972G>T c.488G>T (p.Gly163Val) | |
1 | g.230710363C>G | CA345206569 | AGT | c.461G>C (p.Gly154Ala) n.972G>C c.488G>C (p.Gly163Ala) | |
1 | g.230710363C>T | CA345206570 | AGT | c.461G>A (p.Gly154Asp) n.972G>A c.488G>A (p.Gly163Asp) | |
1 | g.230710364C>A | CA345206572 | AGT | c.460G>T (p.Gly154Cys) n.971G>T c.487G>T (p.Gly163Cys) | |
1 | g.230710364C>G | CA345206574 | AGT | c.460G>C (p.Gly154Arg) n.971G>C c.487G>C (p.Gly163Arg) | |
1 | g.230710364C>T | CA345206575 | AGT | c.460G>A (p.Gly154Ser) n.971G>A c.487G>A (p.Gly163Ser) | gnomAD v4 |
1 | g.230710365C>A | CA424036700 | AGT | c.459G>T (p.Leu153=) n.970G>T c.486G>T (p.Leu162=) | |
1 | g.230710365C>G | CA424036702 | AGT | c.459G>C (p.Leu153=) n.970G>C c.486G>C (p.Leu162=) | |
1 | g.230710365C>T | CA424036704 | AGT | c.459G>A (p.Leu153=) n.970G>A c.486G>A (p.Leu162=) | |
1 | g.230710366A= | CA1226669708 | AGT | c.458T= (p.Leu153=) n.969T= c.485T= (p.Leu162=) | |
1 | g.230710366A>C | CA345206579 | AGT | c.458T>G (p.Leu153Arg) n.969T>G c.485T>G (p.Leu162Arg) | |
1 | g.230710366A>G | CA345206578 | AGT | c.458T>C (p.Leu153Pro) n.969T>C c.485T>C (p.Leu162Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710366A>T | CA345206577 | AGT | c.458T>A (p.Leu153Gln) n.969T>A c.485T>A (p.Leu162Gln) | |
1 | g.230710367G>A | CA424036707 | AGT | c.457C>T (p.Leu153=) n.968C>T c.484C>T (p.Leu162=) | |
1 | g.230710367G>C | CA345206581 | AGT | c.457C>G (p.Leu153Val) n.968C>G c.484C>G (p.Leu162Val) | dbSNP |
1 | g.230710367G= | CA1226669709 | AGT | c.457C= (p.Leu153=) n.968C= c.484C= (p.Leu162=) | |
1 | g.230710367G>T | CA345206583 | AGT | c.457C>A (p.Leu153Met) n.968C>A c.484C>A (p.Leu162Met) | |
1 | g.230710368G>A | CA424036711 | AGT | c.456C>T (p.Ile152=) n.967C>T c.483C>T (p.Ile161=) | gnomAD v4 COSMIC |
1 | g.230710368G>C | CA345206585 | AGT | c.456C>G (p.Ile152Met) n.967C>G c.483C>G (p.Ile161Met) | |
1 | g.230710368G>T | CA424036710 | AGT | c.456C>A (p.Ile152=) n.967C>A c.483C>A (p.Ile161=) | |
1 | g.230710369A>C | CA345206586 | AGT | c.455T>G (p.Ile152Ser) n.966T>G c.482T>G (p.Ile161Ser) | |
1 | g.230710369A>G | CA345206588 | AGT | c.455T>C (p.Ile152Thr) n.966T>C c.482T>C (p.Ile161Thr) | |
1 | g.230710369A>T | CA345206589 | AGT | c.455T>A (p.Ile152Asn) n.966T>A c.482T>A (p.Ile161Asn) | |
1 | g.230710369_230710370del | CA2650971414 | AGT | c.454_455del (p.Ile152ProfsTer?) n.965_966del c.481_482del (p.Ile161ProfsTer?) | gnomAD v4 |
1 | g.230710370T>A | CA345206591 | AGT | c.454A>T (p.Ile152Phe) n.965A>T c.481A>T (p.Ile161Phe) | |
1 | g.230710370T>C | CA1448292 | AGT | c.454A>G (p.Ile152Val) n.965A>G c.481A>G (p.Ile161Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710370T>G | CA345206593 | AGT | c.454A>C (p.Ile152Leu) n.965A>C c.481A>C (p.Ile161Leu) | |
1 | g.230710370T= | CA1226669710 | AGT | c.454A= (p.Ile152=) n.965A= c.481A= (p.Ile161=) | |
1 | g.230710371T>A | CA424036723 | AGT | c.453A>T (p.Ala151=) n.964A>T c.480A>T (p.Ala160=) | |
1 | g.230710371T>C | CA424036716 | AGT | c.453A>G (p.Ala151=) n.964A>G c.480A>G (p.Ala160=) | |
1 | g.230710371T>G | CA424036719 | AGT | c.453A>C (p.Ala151=) n.964A>C c.480A>C (p.Ala160=) | |
1 | g.230710372G>A | CA345206595 | AGT | c.452C>T (p.Ala151Val) n.963C>T c.479C>T (p.Ala160Val) | |
1 | g.230710372G>C | CA345206597 | AGT | c.452C>G (p.Ala151Gly) n.963C>G c.479C>G (p.Ala160Gly) | |
1 | g.230710372G>T | CA345206598 | AGT | c.452C>A (p.Ala151Glu) n.963C>A c.479C>A (p.Ala160Glu) | |
1 | g.230710373C>A | CA345206603 | AGT | c.451G>T (p.Ala151Ser) n.962G>T c.478G>T (p.Ala160Ser) | |
1 | g.230710373C>G | CA345206601 | AGT | c.451G>C (p.Ala151Pro) n.962G>C c.478G>C (p.Ala160Pro) | |
1 | g.230710373C>T | CA345206600 | AGT | c.451G>A (p.Ala151Thr) n.962G>A c.478G>A (p.Ala160Thr) | COSMIC |
1 | g.230710374C>A | CA345206604 | AGT | c.450G>T (p.Gln150His) n.961G>T c.477G>T (p.Gln159His) | |
1 | g.230710374C= | CA1226669711 | AGT | c.450G= (p.Gln150=) n.961G= c.477G= (p.Gln159=) | |
1 | g.230710374C>G | CA345206605 | AGT | c.450G>C (p.Gln150His) n.961G>C c.477G>C (p.Gln159His) | |
1 | g.230710374C>T | CA424036728 | AGT | c.450G>A (p.Gln150=) n.961G>A c.477G>A (p.Gln159=) | dbSNP |
1 | g.230710375T>A | CA345206607 | AGT | c.449A>T (p.Gln150Leu) n.960A>T c.476A>T (p.Gln159Leu) | |
1 | g.230710375T>C | CA345206608 | AGT | c.449A>G (p.Gln150Arg) n.960A>G c.476A>G (p.Gln159Arg) | dbSNP |
1 | g.230710375T>G | CA345206610 | AGT | c.449A>C (p.Gln150Pro) n.960A>C c.476A>C (p.Gln159Pro) | |
1 | g.230710375T= | CA1226669712 | AGT | c.449A= (p.Gln150=) n.960A= c.476A= (p.Gln159=) | |
1 | g.230710376G>A | CA345206612 | AGT | c.448C>T (p.Gln150Ter) n.959C>T c.475C>T (p.Gln159Ter) | dbSNP gnomAD v4 |
1 | g.230710376G>C | CA345206614 | AGT | c.448C>G (p.Gln150Glu) n.959C>G c.475C>G (p.Gln159Glu) | |
1 | g.230710376G= | CA1226669713 | AGT | c.448C= (p.Gln150=) n.959C= c.475C= (p.Gln159=) | |
1 | g.230710376G>T | CA345206615 | AGT | c.448C>A (p.Gln150Lys) n.959C>A c.475C>A (p.Gln159Lys) | |
1 | g.230710377T>A | CA424036737 | AGT | c.447A>T (p.Leu149=) n.958A>T c.474A>T (p.Leu158=) | |
1 | g.230710377T>C | CA424036738 | AGT | c.447A>G (p.Leu149=) n.958A>G c.474A>G (p.Leu158=) | dbSNP gnomAD v4 |
1 | g.230710377T>G | CA424036739 | AGT | c.447A>C (p.Leu149=) n.958A>C c.474A>C (p.Leu158=) | |
1 | g.230710377T= | CA1226669714 | AGT | c.447A= (p.Leu149=) n.958A= c.474A= (p.Leu158=) | |
1 | g.230710378A>C | CA345206616 | AGT | c.446T>G (p.Leu149Arg) n.957T>G c.473T>G (p.Leu158Arg) | |
1 | g.230710378A>G | CA345206618 | AGT | c.446T>C (p.Leu149Pro) n.957T>C c.473T>C (p.Leu158Pro) | |
1 | g.230710378A>T | CA345206620 | AGT | c.446T>A (p.Leu149Gln) n.957T>A c.473T>A (p.Leu158Gln) | |
1 | g.230710379G>A | CA424036744 | AGT | c.445C>T (p.Leu149=) n.956C>T c.472C>T (p.Leu158=) | |
1 | g.230710379G>C | CA345206621 | AGT | c.445C>G (p.Leu149Val) n.956C>G c.472C>G (p.Leu158Val) | |
1 | g.230710379G>T | CA345206623 | AGT | c.445C>A (p.Leu149Ile) n.956C>A c.472C>A (p.Leu158Ile) | |
1 | g.230710380C>A | CA345206624 | AGT | c.444G>T (p.Arg148Ser) n.955G>T c.471G>T (p.Arg157Ser) | |
1 | g.230710380C>G | CA345206626 | AGT | c.444G>C (p.Arg148Ser) n.955G>C c.471G>C (p.Arg157Ser) | |
1 | g.230710380C>T | CA424036750 | AGT | c.444G>A (p.Arg148=) n.955G>A c.471G>A (p.Arg157=) | |
1 | g.230710381C>A | CA345206628 | AGT | c.443G>T (p.Arg148Met) n.954G>T c.470G>T (p.Arg157Met) | |
1 | g.230710381C= | CA1226669715 | AGT | c.443G= (p.Arg148=) n.954G= c.470G= (p.Arg157=) | |
1 | g.230710381C>G | CA345206630 | AGT | c.443G>C (p.Arg148Thr) n.954G>C c.470G>C (p.Arg157Thr) | |
1 | g.230710381C>T | CA345206629 | AGT | c.443G>A (p.Arg148Lys) n.954G>A c.470G>A (p.Arg157Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710382T>A | CA345206631 | AGT | c.442A>T (p.Arg148Trp) n.953A>T c.469A>T (p.Arg157Trp) | |
1 | g.230710382T>C | CA345206633 | AGT | c.442A>G (p.Arg148Gly) n.953A>G c.469A>G (p.Arg157Gly) | |
1 | g.230710382T>G | CA424036755 | AGT | c.442A>C (p.Arg148=) n.953A>C c.469A>C (p.Arg157=) | gnomAD v4 |
1 | g.230710383G>A | CA424036758 | AGT | c.441C>T (p.Asp147=) n.952C>T c.468C>T (p.Asp156=) | |
1 | g.230710383G>C | CA345206635 | AGT | c.441C>G (p.Asp147Glu) n.952C>G c.468C>G (p.Asp156Glu) | |
1 | g.230710383G= | CA1226669716 | AGT | c.441C= (p.Asp147=) n.952C= c.468C= (p.Asp156=) | |
1 | g.230710383G>T | CA345206637 | AGT | c.441C>A (p.Asp147Glu) n.952C>A c.468C>A (p.Asp156Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710384T>A | CA345206638 | AGT | c.440A>T (p.Asp147Val) n.951A>T c.467A>T (p.Asp156Val) | |
1 | g.230710384T>C | CA1448293 | AGT | c.440A>G (p.Asp147Gly) n.951A>G c.467A>G (p.Asp156Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710384T>G | CA345206640 | AGT | c.440A>C (p.Asp147Ala) n.951A>C c.467A>C (p.Asp156Ala) | |
1 | g.230710384T= | CA1140727498 | AGT | c.440A= (p.Asp147=) n.951A= c.467A= (p.Asp156=) | |
1 | g.230710385C>A | CA345206641 | AGT | c.439G>T (p.Asp147Tyr) n.950G>T c.466G>T (p.Asp156Tyr) | |
1 | g.230710385C>G | CA345206643 | AGT | c.439G>C (p.Asp147His) n.950G>C c.466G>C (p.Asp156His) | gnomAD v4 COSMIC |
1 | g.230710385C>T | CA345206644 | AGT | c.439G>A (p.Asp147Asn) n.950G>A c.466G>A (p.Asp156Asn) | COSMIC |
1 | g.230710386A>C | CA424036760 | AGT | c.438T>G (p.Ala146=) n.949T>G c.465T>G (p.Ala155=) | |
1 | g.230710386A>G | CA424036761 | AGT | c.438T>C (p.Ala146=) n.949T>C c.465T>C (p.Ala155=) | |
1 | g.230710386A>T | CA424036762 | AGT | c.438T>A (p.Ala146=) n.949T>A c.465T>A (p.Ala155=) | |
1 | g.230710387G>A | CA1448294 | AGT | c.437C>T (p.Ala146Val) n.948C>T c.464C>T (p.Ala155Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710387G>C | CA345206648 | AGT | c.437C>G (p.Ala146Gly) n.948C>G c.464C>G (p.Ala155Gly) | |
1 | g.230710387G= | CA1141929753 | AGT | c.437C= (p.Ala146=) n.948C= c.464C= (p.Ala155=) | |
1 | g.230710387G>T | CA345206645 | AGT | c.437C>A (p.Ala146Asp) n.948C>A c.464C>A (p.Ala155Asp) | |
1 | g.230710388C>A | CA345206650 | AGT | c.436G>T (p.Ala146Ser) n.947G>T c.463G>T (p.Ala155Ser) | |
1 | g.230710388C= | CA1226669717 | AGT | c.436G= (p.Ala146=) n.947G= c.463G= (p.Ala155=) | |
1 | g.230710388C>G | CA345206651 | AGT | c.436G>C (p.Ala146Pro) n.947G>C c.463G>C (p.Ala155Pro) | |
1 | g.230710388C>T | CA345206653 | AGT | c.436G>A (p.Ala146Thr) n.947G>A c.463G>A (p.Ala155Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710389T>A | CA424036764 | AGT | c.435A>T (p.Thr145=) n.946A>T c.462A>T (p.Thr154=) | |
1 | g.230710389T>C | CA424036765 | AGT | c.435A>G (p.Thr145=) n.946A>G c.462A>G (p.Thr154=) | |
1 | g.230710389T>G | CA424036766 | AGT | c.435A>C (p.Thr145=) n.946A>C c.462A>C (p.Thr154=) | |
1 | g.230710393_230710394del | CA2574015666 | AGT | c.434_435del (p.Thr145SerfsTer2) n.945_946del c.461_462del (p.Thr154SerfsTer2) | |
1 | g.230710390G>A | CA1448295 | AGT | c.434C>T (p.Thr145Ile) n.945C>T c.461C>T (p.Thr154Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710390G>C | CA345206655 | AGT | c.434C>G (p.Thr145Arg) n.945C>G c.461C>G (p.Thr154Arg) | |
1 | g.230710390G= | CA1226669718 | AGT | c.434C= (p.Thr145=) n.945C= c.461C= (p.Thr154=) | |
1 | g.230710390G>T | CA345206656 | AGT | c.434C>A (p.Thr145Lys) n.945C>A c.461C>A (p.Thr154Lys) | |
1 | g.230710391T>A | CA345206659 | AGT | c.433A>T (p.Thr145Ser) n.944A>T c.460A>T (p.Thr154Ser) | |
1 | g.230710391T>C | CA345206657 | AGT | c.433A>G (p.Thr145Ala) n.944A>G c.460A>G (p.Thr154Ala) | dbSNP |
1 | g.230710391T>G | CA345206658 | AGT | c.433A>C (p.Thr145Pro) n.944A>C c.460A>C (p.Thr154Pro) | gnomAD v4 |
1 | g.230710391T= | CA1226669719 | AGT | c.433A= (p.Thr145=) n.944A= c.460A= (p.Thr154=) | |
1 | g.230710392G>A | CA424036769 | AGT | c.432C>T (p.His144=) n.943C>T c.459C>T (p.His153=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710392G>C | CA345206660 | AGT | c.432C>G (p.His144Gln) n.943C>G c.459C>G (p.His153Gln) | |
1 | g.230710392G= | CA1226669720 | AGT | c.432C= (p.His144=) n.943C= c.459C= (p.His153=) | |
1 | g.230710392G>T | CA345206661 | AGT | c.432C>A (p.His144Gln) n.943C>A c.459C>A (p.His153Gln) | |
1 | g.230710393T>A | CA345206662 | AGT | c.431A>T (p.His144Leu) n.942A>T c.458A>T (p.His153Leu) | |
1 | g.230710393T>C | CA345206663 | AGT | c.431A>G (p.His144Arg) n.942A>G c.458A>G (p.His153Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710393T>G | CA345206664 | AGT | c.431A>C (p.His144Pro) n.942A>C c.458A>C (p.His153Pro) | |
1 | g.230710393T= | CA1226669721 | AGT | c.431A= (p.His144=) n.942A= c.458A= (p.His153=) | |
1 | g.230710394G>A | CA345206665 | AGT | c.430C>T (p.His144Tyr) n.941C>T c.457C>T (p.His153Tyr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710394G>C | CA345206667 | AGT | c.430C>G (p.His144Asp) n.941C>G c.457C>G (p.His153Asp) | gnomAD v4 |
1 | g.230710394G= | CA1226669722 | AGT | c.430C= (p.His144=) n.941C= c.457C= (p.His153=) | |
1 | g.230710394G>T | CA345206666 | AGT | c.430C>A (p.His144Asn) n.941C>A c.457C>A (p.His153Asn) | |
1 | g.230710395G>A | CA424036771 | AGT | c.429C>T (p.Asp143=) n.940C>T c.456C>T (p.Asp152=) | |
1 | g.230710395G>C | CA345206668 | AGT | c.429C>G (p.Asp143Glu) n.940C>G c.456C>G (p.Asp152Glu) | |
1 | g.230710395G>T | CA345206669 | AGT | c.429C>A (p.Asp143Glu) n.940C>A c.456C>A (p.Asp152Glu) | |
1 | g.230710396T>A | CA345206670 | AGT | c.428A>T (p.Asp143Val) n.939A>T c.455A>T (p.Asp152Val) | |
1 | g.230710396T>C | CA345206671 | AGT | c.428A>G (p.Asp143Gly) n.939A>G c.455A>G (p.Asp152Gly) | |
1 | g.230710396T>G | CA345206672 | AGT | c.428A>C (p.Asp143Ala) n.939A>C c.455A>C (p.Asp152Ala) | |
1 | g.230710397C>A | CA345206673 | AGT | c.427G>T (p.Asp143Tyr) n.938G>T c.454G>T (p.Asp152Tyr) | |
1 | g.230710397C>G | CA345206674 | AGT | c.427G>C (p.Asp143His) n.938G>C c.454G>C (p.Asp152His) | |
1 | g.230710397C>T | CA345206675 | AGT | c.427G>A (p.Asp143Asn) n.938G>A c.454G>A (p.Asp152Asn) | |
1 | g.230710398C>A | CA345206676 | AGT | c.426G>T (p.Leu142Phe) n.937G>T c.453G>T (p.Leu151Phe) | |
1 | g.230710398C= | CA1226669723 | AGT | c.426G= (p.Leu142=) n.937G= c.453G= (p.Leu151=) | |
1 | g.230710398C>G | CA345206677 | AGT | c.426G>C (p.Leu142Phe) n.937G>C c.453G>C (p.Leu151Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710398C>T | CA424036774 | AGT | c.426G>A (p.Leu142=) n.937G>A c.453G>A (p.Leu151=) | |
1 | g.230710399A= | CA1142347657 | AGT | c.425T= (p.Leu142=) n.936T= c.452T= (p.Leu151=) | |
1 | g.230710399A>C | CA1448296 | AGT | c.425T>G (p.Leu142Trp) n.936T>G c.452T>G (p.Leu151Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710399A>G | CA1448297 | AGT | c.425T>C (p.Leu142Ser) n.936T>C c.452T>C (p.Leu151Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710399A>T | CA345206678 | AGT | c.425T>A (p.Leu142Ter) n.936T>A c.452T>A (p.Leu151Ter) | |
1 | g.230710400A>C | CA345206679 | AGT | c.424T>G (p.Leu142Val) n.935T>G c.451T>G (p.Leu151Val) | |
1 | g.230710400A>G | CA424036778 | AGT | c.424T>C (p.Leu142=) n.935T>C c.451T>C (p.Leu151=) | |
1 | g.230710400A>T | CA345206680 | AGT | c.424T>A (p.Leu142Met) n.935T>A c.451T>A (p.Leu151Met) | |
1 | g.230710401G>A | CA424036782 | AGT | c.423C>T (p.Ala141=) n.934C>T c.450C>T (p.Ala150=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710401G>C | CA424036784 | AGT | c.423C>G (p.Ala141=) n.934C>G c.450C>G (p.Ala150=) | |
1 | g.230710401G= | CA1226669724 | AGT | c.423C= (p.Ala141=) n.934C= c.450C= (p.Ala150=) | |
1 | g.230710401G>T | CA424036783 | AGT | c.423C>A (p.Ala141=) n.934C>A c.450C>A (p.Ala150=) | |
1 | g.230710402G>A | CA345206681 | AGT | c.422C>T (p.Ala141Val) n.933C>T c.449C>T (p.Ala150Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710402G>C | CA345206683 | AGT | c.422C>G (p.Ala141Gly) n.933C>G c.449C>G (p.Ala150Gly) | |
1 | g.230710402G= | CA1226669725 | AGT | c.422C= (p.Ala141=) n.933C= c.449C= (p.Ala150=) | |
1 | g.230710402G>T | CA345206682 | AGT | c.422C>A (p.Ala141Asp) n.933C>A c.449C>A (p.Ala150Asp) | |
1 | g.230710403C>A | CA345206684 | AGT | c.421G>T (p.Ala141Ser) n.932G>T c.448G>T (p.Ala150Ser) | |
1 | g.230710403C= | CA1148873303 | AGT | c.421G= (p.Ala141=) n.932G= c.448G= (p.Ala150=) | |
1 | g.230710403C>G | CA345206685 | AGT | c.421G>C (p.Ala141Pro) n.932G>C c.448G>C (p.Ala150Pro) | |
1 | g.230710403C>T | CA1448298 | AGT | c.421G>A (p.Ala141Thr) n.932G>A c.448G>A (p.Ala150Thr) | dbSNP ExAC |
1 | g.230710404T>A | CA424036788 | AGT | c.420A>T (p.Gly140=) n.931A>T c.447A>T (p.Gly149=) | |
1 | g.230710404T>C | CA424036789 | AGT | c.420A>G (p.Gly140=) n.931A>G c.447A>G (p.Gly149=) | |
1 | g.230710404T>G | CA424036790 | AGT | c.420A>C (p.Gly140=) n.931A>C c.447A>C (p.Gly149=) | |
1 | g.230710405C>A | CA345206686 | AGT | c.419G>T (p.Gly140Val) n.930G>T c.446G>T (p.Gly149Val) | |
1 | g.230710405C= | CA1226669726 | AGT | c.419G= (p.Gly140=) n.930G= c.446G= (p.Gly149=) | |
1 | g.230710405C>G | CA345206687 | AGT | c.419G>C (p.Gly140Ala) n.930G>C c.446G>C (p.Gly149Ala) | gnomAD v4 |
1 | g.230710405C>T | CA345206688 | AGT | c.419G>A (p.Gly140Glu) n.930G>A c.446G>A (p.Gly149Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710406C>A | CA345206689 | AGT | c.418G>T (p.Gly140Ter) n.929G>T c.445G>T (p.Gly149Ter) | |
1 | g.230710406C= | CA1226669727 | AGT | c.418G= (p.Gly140=) n.929G= c.445G= (p.Gly149=) | |
1 | g.230710406C>G | CA345206690 | AGT | c.418G>C (p.Gly140Arg) n.929G>C c.445G>C (p.Gly149Arg) | |
1 | g.230710406C>T | CA345206691 | AGT | c.418G>A (p.Gly140Arg) n.929G>A c.445G>A (p.Gly149Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710407C>A | CA424036792 | AGT | c.417G>T (p.Leu139=) n.928G>T c.444G>T (p.Leu148=) | |
1 | g.230710407C>G | CA424036794 | AGT | c.417G>C (p.Leu139=) n.928G>C c.444G>C (p.Leu148=) | |
1 | g.230710407C>T | CA424036796 | AGT | c.417G>A (p.Leu139=) n.928G>A c.444G>A (p.Leu148=) | gnomAD v4 |
1 | g.230710408A>C | CA345206692 | AGT | c.416T>G (p.Leu139Arg) n.927T>G c.443T>G (p.Leu148Arg) | |
1 | g.230710408A>G | CA345206693 | AGT | c.416T>C (p.Leu139Pro) n.927T>C c.443T>C (p.Leu148Pro) | |
1 | g.230710408A>T | CA345206694 | AGT | c.416T>A (p.Leu139Gln) n.927T>A c.443T>A (p.Leu148Gln) | |
1 | g.230710409G>A | CA424036798 | AGT | c.415C>T (p.Leu139=) n.926C>T c.442C>T (p.Leu148=) | |
1 | g.230710409G>C | CA345206695 | AGT | c.415C>G (p.Leu139Val) n.926C>G c.442C>G (p.Leu148Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710409G= | CA1226669728 | AGT | c.415C= (p.Leu139=) n.926C= c.442C= (p.Leu148=) | |
1 | g.230710409G>T | CA345206696 | AGT | c.415C>A (p.Leu139Met) n.926C>A c.442C>A (p.Leu148Met) | |
1 | g.230710410A= | CA1226669729 | AGT | c.414T= (p.Tyr138=) n.925T= c.441T= (p.Tyr147=) | |
1 | g.230710410A>C | CA345206698 | AGT | c.414T>G (p.Tyr138Ter) n.925T>G c.441T>G (p.Tyr147Ter) | |
1 | g.230710410A>G | CA38871797 | AGT | c.414T>C (p.Tyr138=) n.925T>C c.441T>C (p.Tyr147=) | dbSNP |
1 | g.230710410A>T | CA345206697 | AGT | c.414T>A (p.Tyr138Ter) n.925T>A c.441T>A (p.Tyr147Ter) | |
1 | g.230710411T>A | CA345206699 | AGT | c.413A>T (p.Tyr138Phe) n.924A>T c.440A>T (p.Tyr147Phe) | |
1 | g.230710411T>C | CA1448299 | AGT | c.413A>G (p.Tyr138Cys) n.924A>G c.440A>G (p.Tyr147Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710411T>G | CA345206700 | AGT | c.413A>C (p.Tyr138Ser) n.924A>C c.440A>C (p.Tyr147Ser) | |
1 | g.230710411T= | CA1146400865 | AGT | c.413A= (p.Tyr138=) n.924A= c.440A= (p.Tyr147=) | |
1 | g.230710411_230710415delinsTAGAG | CA1226669730 | AGT | c.409_413delinsCTCTA (p.Leu137=) n.920_924delinsCTCTA c.436_440delinsCTCTA (p.Leu146=) | |
1 | g.230710412A>C | CA345206701 | AGT | c.412T>G (p.Tyr138Asp) n.923T>G c.439T>G (p.Tyr147Asp) | |
1 | g.230710412A>G | CA345206702 | AGT | c.412T>C (p.Tyr138His) n.923T>C c.439T>C (p.Tyr147His) | |
1 | g.230710412A>T | CA345206703 | AGT | c.412T>A (p.Tyr138Asn) n.923T>A c.439T>A (p.Tyr147Asn) | |
1 | g.230710416_230710419del | CA1226669731 | AGT | c.409_412del (p.Leu137IlefsTer?) n.920_923del c.436_439del (p.Leu146IlefsTer?) | dbSNP |
1 | g.230710413G>A | CA1448300 | AGT | c.411C>T (p.Leu137=) n.922C>T c.438C>T (p.Leu146=) | dbSNP ExAC |
1 | g.230710413G>C | CA424036804 | AGT | c.411C>G (p.Leu137=) n.922C>G c.438C>G (p.Leu146=) | |
1 | g.230710413G= | CA1226669732 | AGT | c.411C= (p.Leu137=) n.922C= c.438C= (p.Leu146=) | |
1 | g.230710413G>T | CA424036802 | AGT | c.411C>A (p.Leu137=) n.922C>A c.438C>A (p.Leu146=) | |
1 | g.230710414A>C | CA345206704 | AGT | c.410T>G (p.Leu137Arg) n.921T>G c.437T>G (p.Leu146Arg) | |
1 | g.230710414A>G | CA345206705 | AGT | c.410T>C (p.Leu137Pro) n.921T>C c.437T>C (p.Leu146Pro) | |
1 | g.230710414A>T | CA345206706 | AGT | c.410T>A (p.Leu137His) n.921T>A c.437T>A (p.Leu146His) | |
1 | g.230710415G>A | CA345206708 | AGT | c.409C>T (p.Leu137Phe) n.920C>T c.436C>T (p.Leu146Phe) | gnomAD v4 |
1 | g.230710415G>C | CA345206709 | AGT | c.409C>G (p.Leu137Val) n.920C>G c.436C>G (p.Leu146Val) | |
1 | g.230710415G>T | CA345206707 | AGT | c.409C>A (p.Leu137Ile) n.920C>A c.436C>A (p.Leu146Ile) | |
1 | g.230710416A>C | CA424036806 | AGT | c.408T>G (p.Ser136=) n.919T>G c.435T>G (p.Ser145=) | |
1 | g.230710416A>G | CA424036807 | AGT | c.408T>C (p.Ser136=) n.919T>C c.435T>C (p.Ser145=) | |
1 | g.230710416A>T | CA424036808 | AGT | c.408T>A (p.Ser136=) n.919T>A c.435T>A (p.Ser145=) | |
1 | g.230710417G>A | CA345206710 | AGT | c.407C>T (p.Ser136Phe) n.918C>T c.434C>T (p.Ser145Phe) | gnomAD v4 |
1 | g.230710417G>C | CA345206711 | AGT | c.407C>G (p.Ser136Cys) n.918C>G c.434C>G (p.Ser145Cys) | |
1 | g.230710417G>T | CA345206712 | AGT | c.407C>A (p.Ser136Tyr) n.918C>A c.434C>A (p.Ser145Tyr) | |
1 | g.230710418A>C | CA345206713 | AGT | c.406T>G (p.Ser136Ala) n.917T>G c.433T>G (p.Ser145Ala) | |
1 | g.230710418A>G | CA345206714 | AGT | c.406T>C (p.Ser136Pro) n.917T>C c.433T>C (p.Ser145Pro) | |
1 | g.230710418A>T | CA345206715 | AGT | c.406T>A (p.Ser136Thr) n.917T>A c.433T>A (p.Ser145Thr) | |
1 | g.230710419G>A | CA424036814 | AGT | c.405C>T (p.Ala135=) n.916C>T c.432C>T (p.Ala144=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710419G>C | CA424036816 | AGT | c.405C>G (p.Ala135=) n.916C>G c.432C>G (p.Ala144=) | |
1 | g.230710419G= | CA1226669733 | AGT | c.405C= (p.Ala135=) n.916C= c.432C= (p.Ala144=) | |
1 | g.230710419G>T | CA424036818 | AGT | c.405C>A (p.Ala135=) n.916C>A c.432C>A (p.Ala144=) | |
1 | g.230710420G>A | CA345206716 | AGT | c.404C>T (p.Ala135Val) n.915C>T c.431C>T (p.Ala144Val) | |
1 | g.230710420G>C | CA345206717 | AGT | c.404C>G (p.Ala135Gly) n.915C>G c.431C>G (p.Ala144Gly) | |
1 | g.230710420G>T | CA345206718 | AGT | c.404C>A (p.Ala135Asp) n.915C>A c.431C>A (p.Ala144Asp) | |
1 | g.230710421C>A | CA345206719 | AGT | c.403G>T (p.Ala135Ser) n.914G>T c.430G>T (p.Ala144Ser) | |
1 | g.230710421C= | CA1141631937 | AGT | c.403G= (p.Ala135=) n.914G= c.430G= (p.Ala144=) | |
1 | g.230710421C>G | CA345206720 | AGT | c.403G>C (p.Ala135Pro) n.914G>C c.430G>C (p.Ala144Pro) | |
1 | g.230710421C>T | CA1448301 | AGT | c.403G>A (p.Ala135Thr) n.914G>A c.430G>A (p.Ala144Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710422C>A | CA424036823 | AGT | c.402G>T (p.Leu134=) n.913G>T c.429G>T (p.Leu143=) | |
1 | g.230710422C>G | CA424036822 | AGT | c.402G>C (p.Leu134=) n.913G>C c.429G>C (p.Leu143=) | |
1 | g.230710422C>T | CA424036821 | AGT | c.402G>A (p.Leu134=) n.913G>A c.429G>A (p.Leu143=) | |
1 | g.230710423A>C | CA345206722 | AGT | c.401T>G (p.Leu134Arg) n.912T>G c.428T>G (p.Leu143Arg) | |
1 | g.230710423A>G | CA345206723 | AGT | c.401T>C (p.Leu134Pro) n.912T>C c.428T>C (p.Leu143Pro) | |
1 | g.230710423A>T | CA345206721 | AGT | c.401T>A (p.Leu134Gln) n.912T>A c.428T>A (p.Leu143Gln) | |
1 | g.230710424G>A | CA424036827 | AGT | c.400C>T (p.Leu134=) n.911C>T c.427C>T (p.Leu143=) | |
1 | g.230710424G>C | CA345206724 | AGT | c.400C>G (p.Leu134Val) n.911C>G c.427C>G (p.Leu143Val) | |
1 | g.230710424G>T | CA345206725 | AGT | c.400C>A (p.Leu134Met) n.911C>A c.427C>A (p.Leu143Met) | |
1 | g.230710425G>A | CA424036828 | AGT | c.399C>T (p.Thr133=) n.910C>T c.426C>T (p.Thr142=) | gnomAD v4 |
1 | g.230710425G>C | CA424036830 | AGT | c.399C>G (p.Thr133=) n.910C>G c.426C>G (p.Thr142=) | |
1 | g.230710425G>T | CA424036832 | AGT | c.399C>A (p.Thr133=) n.910C>A c.426C>A (p.Thr142=) | |
1 | g.230710426G>A | CA345206726 | AGT | c.398C>T (p.Thr133Ile) n.909C>T c.425C>T (p.Thr142Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.230710426G>C | CA1448302 | AGT | c.398C>G (p.Thr133Ser) n.909C>G c.425C>G (p.Thr142Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710426G= | CA1226669734 | AGT | c.398C= (p.Thr133=) n.909C= c.425C= (p.Thr142=) | |
1 | g.230710426G>T | CA345206727 | AGT | c.398C>A (p.Thr133Asn) n.909C>A c.425C>A (p.Thr142Asn) | |
1 | g.230710427T>A | CA345206729 | AGT | c.397A>T (p.Thr133Ser) n.908A>T c.424A>T (p.Thr142Ser) | |
1 | g.230710427T>C | CA1448303 | AGT | c.397A>G (p.Thr133Ala) n.908A>G c.424A>G (p.Thr142Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230710427T>G | CA345206728 | AGT | c.397A>C (p.Thr133Pro) n.908A>C c.424A>C (p.Thr142Pro) | dbSNP |
1 | g.230710427T= | CA1226669735 | AGT | c.397A= (p.Thr133=) n.908A= c.424A= (p.Thr142=) | |
1 | g.230710427_230710437delinsTGCCAAAGACA | CA1226669736 | AGT | c.387_397delinsTGTCTTTGGCA (p.Ala129=) n.898_908delinsTGTCTTTGGCA c.414_424delinsTGTCTTTGGCA (p.Ala138=) | |
1 | g.230710428G>A | CA424036836 | AGT | c.396C>T (p.Gly132=) n.907C>T c.423C>T (p.Gly141=) | |
1 | g.230710428G>C | CA424036837 | AGT | c.396C>G (p.Gly132=) n.907C>G c.423C>G (p.Gly141=) | |
1 | g.230710428G>T | CA424036838 | AGT | c.396C>A (p.Gly132=) n.907C>A c.423C>A (p.Gly141=) | |
1 | g.230710431_230710440del | CA1013239946 | AGT | c.387_396del (p.Val130ProfsTer?) n.898_907del c.414_423del (p.Val139ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710429C>A | CA345206730 | AGT | c.395G>T (p.Gly132Val) n.906G>T c.422G>T (p.Gly141Val) | |
1 | g.230710429C= | CA1226669737 | AGT | c.395G= (p.Gly132=) n.906G= c.422G= (p.Gly141=) | |
1 | g.230710429C>G | CA345206731 | AGT | c.395G>C (p.Gly132Ala) n.906G>C c.422G>C (p.Gly141Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.230710429C>T | CA345206732 | AGT | c.395G>A (p.Gly132Asp) n.906G>A c.422G>A (p.Gly141Asp) | |
1 | g.230710430C>A | CA345206733 | AGT | c.394G>T (p.Gly132Cys) n.905G>T c.421G>T (p.Gly141Cys) | dbSNP gnomAD v4 |
1 | g.230710430C= | CA1226669738 | AGT | c.394G= (p.Gly132=) n.905G= c.421G= (p.Gly141=) | |
1 | g.230710430C>G | CA345206734 | AGT | c.394G>C (p.Gly132Arg) n.905G>C c.421G>C (p.Gly141Arg) | |
1 | g.230710430C>T | CA345206735 | AGT | c.394G>A (p.Gly132Ser) n.905G>A c.421G>A (p.Gly141Ser) | |
1 | g.230710431A>C | CA345206737 | AGT | c.393T>G (p.Phe131Leu) n.904T>G c.420T>G (p.Phe140Leu) | |
1 | g.230710431A>G | CA424036842 | AGT | c.393T>C (p.Phe131=) n.904T>C c.420T>C (p.Phe140=) | |
1 | g.230710431A>T | CA345206736 | AGT | c.393T>A (p.Phe131Leu) n.904T>A c.420T>A (p.Phe140Leu) | |
1 | g.230710432A>C | CA345206738 | AGT | c.392T>G (p.Phe131Cys) n.903T>G c.419T>G (p.Phe140Cys) | |
1 | g.230710432A>G | CA345206740 | AGT | c.392T>C (p.Phe131Ser) n.903T>C c.419T>C (p.Phe140Ser) | |
1 | g.230710432A>T | CA345206739 | AGT | c.392T>A (p.Phe131Tyr) n.903T>A c.419T>A (p.Phe140Tyr) | |
1 | g.230710433A>C | CA345206741 | AGT | c.391T>G (p.Phe131Val) n.902T>G c.418T>G (p.Phe140Val) | |
1 | g.230710433A>G | CA345206742 | AGT | c.391T>C (p.Phe131Leu) n.902T>C c.418T>C (p.Phe140Leu) | |
1 | g.230710433A>T | CA345206743 | AGT | c.391T>A (p.Phe131Ile) n.902T>A c.418T>A (p.Phe140Ile) | |
1 | g.230710434G>A | CA424036846 | AGT | c.390C>T (p.Val130=) n.901C>T c.417C>T (p.Val139=) | COSMIC |
1 | g.230710434G>C | CA1448304 | AGT | c.390C>G (p.Val130=) n.901C>G c.417C>G (p.Val139=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.230710434G= | CA1226669739 | AGT | c.390C= (p.Val130=) n.901C= c.417C= (p.Val139=) | |
1 | g.230710434G>T | CA424036847 | AGT | c.390C>A (p.Val130=) n.901C>A c.417C>A (p.Val139=) |