Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219418499_219419548del | CA1139655693 | DES | c.37_578+508del c.37_495+591del | ClinVar |
2 | g.219418914_219418921del | CA2499215677 | DES | c.452_459del (p.Val151AlafsTer18) c.452_459del (p.Val151AlafsTer24) | ClinVar dbSNP |
2 | g.219418914T>A | CA350686313 | DES | c.452T>A (p.Val151Glu) | |
2 | g.219418914T>C | CA350686316 | DES | c.452T>C (p.Val151Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418914T>G | CA350686321 | DES | c.452T>G (p.Val151Gly) | |
2 | g.219418914T= | CA1329210080 | DES | c.452T= (p.Val151=) | |
2 | g.219418915G>A | CA431427820 | DES | c.453G>A (p.Val151=) | gnomAD v4 |
2 | g.219418915G>C | CA431427821 | DES | c.453G>C (p.Val151=) | dbSNP |
2 | g.219418915G= | CA1329210081 | DES | c.453G= (p.Val151=) | |
2 | g.219418915G>T | CA431427823 | DES | c.453G>T (p.Val151=) | dbSNP gnomAD v4 |
2 | g.219418916G>A | CA350686326 | DES | c.454G>A (p.Ala152Thr) | |
2 | g.219418916G>C | CA350686330 | DES | c.454G>C (p.Ala152Pro) | |
2 | g.219418916G>T | CA350686334 | DES | c.454G>T (p.Ala152Ser) | |
2 | g.219418917C>A | CA350686338 | DES | c.455C>A (p.Ala152Asp) | |
2 | g.219418917C>G | CA350686348 | DES | c.455C>G (p.Ala152Gly) | |
2 | g.219418917C>T | CA350686345 | DES | c.455C>T (p.Ala152Val) | gnomAD v4 |
2 | g.219418918C>A | CA431427826 | DES | c.456C>A (p.Ala152=) | gnomAD v4 |
2 | g.219418918C= | CA1329210082 | DES | c.456C= (p.Ala152=) | |
2 | g.219418918C>G | CA431427827 | DES | c.456C>G (p.Ala152=) | ClinVar gnomAD v4 |
2 | g.219418918C>T | CA431427828 | DES | c.456C>T (p.Ala152=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418919G>A | CA350686355 | DES | c.457G>A (p.Glu153Lys) | dbSNP gnomAD v4 |
2 | g.219418919G>C | CA350686358 | DES | c.457G>C (p.Glu153Gln) | |
2 | g.219418919G= | CA1329210083 | DES | c.457G= (p.Glu153=) | |
2 | g.219418919G>T | CA350686363 | DES | c.457G>T (p.Glu153Ter) | gnomAD v4 |
2 | g.219418920A>C | CA350686367 | DES | c.458A>C (p.Glu153Ala) | |
2 | g.219418920A>G | CA350686370 | DES | c.458A>G (p.Glu153Gly) | ClinVar gnomAD v4 |
2 | g.219418920A>T | CA350686373 | DES | c.458A>T (p.Glu153Val) | |
2 | g.219418921G>A | CA431427834 | DES | c.459G>A (p.Glu153=) | |
2 | g.219418921G>C | CA350686378 | DES | c.459G>C (p.Glu153Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418921G= | CA1329210084 | DES | c.459G= (p.Glu153=) | |
2 | g.219418921G>T | CA350686382 | DES | c.459G>T (p.Glu153Asp) | gnomAD v4 COSMIC |
2 | g.219418922C>A | CA2125070 | DES | c.460C>A (p.Leu154Ile) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.219418922C= | CA1329210085 | DES | c.460C= (p.Leu154=) | |
2 | g.219418922C>G | CA350686390 | DES | c.460C>G (p.Leu154Val) | |
2 | g.219418922C>T | CA350686394 | DES | c.460C>T (p.Leu154Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418923T>A | CA2125071 | DES | c.461T>A (p.Leu154His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418923T>C | CA350686407 | DES | c.461T>C (p.Leu154Pro) | ClinVar gnomAD v4 |
2 | g.219418923T>G | CA350686402 | DES | c.461T>G (p.Leu154Arg) | |
2 | g.219418923T= | CA1329210086 | DES | c.461T= (p.Leu154=) | |
2 | g.219418924C>A | CA431427841 | DES | c.462C>A (p.Leu154=) | gnomAD v4 |
2 | g.219418924C= | CA1329210087 | DES | c.462C= (p.Leu154=) | |
2 | g.219418924C>G | CA431427842 | DES | c.462C>G (p.Leu154=) | gnomAD v4 |
2 | g.219418924C>T | CA431427843 | DES | c.462C>T (p.Leu154=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418925T>A | CA350686415 | DES | c.463T>A (p.Tyr155Asn) | |
2 | g.219418925T>C | CA350686422 | DES | c.463T>C (p.Tyr155His) | |
2 | g.219418925T>G | CA350686418 | DES | c.463T>G (p.Tyr155Asp) | |
2 | g.219418926A>C | CA350686426 | DES | c.464A>C (p.Tyr155Ser) | |
2 | g.219418926A>G | CA350686435 | DES | c.464A>G (p.Tyr155Cys) | |
2 | g.219418926A>T | CA350686429 | DES | c.464A>T (p.Tyr155Phe) | |
2 | g.219418927C>A | CA350686441 | DES | c.465C>A (p.Tyr155Ter) | dbSNP gnomAD v4 |
2 | g.219418927C= | CA1329210088 | DES | c.465C= (p.Tyr155=) | |
2 | g.219418927C>G | CA350686447 | DES | c.465C>G (p.Tyr155Ter) | |
2 | g.219418927C>T | CA431427848 | DES | c.465C>T (p.Tyr155=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418927_219418930delinsCGAG | CA1329210089 | DES | c.465_468delinsCGAG (p.Tyr155=) | |
2 | g.219418928G>A | CA2125072 | DES | c.466G>A (p.Glu156Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418928G>C | CA350686456 | DES | c.466G>C (p.Glu156Gln) | ClinVar dbSNP |
2 | g.219418928G= | CA1329210091 | DES | c.466G= (p.Glu156=) | |
2 | g.219418928G>T | CA350686459 | DES | c.466G>T (p.Glu156Ter) | |
2 | g.219418934_219418936del | CA1329210090 | DES | c.472_474del (p.Glu158del) | ClinVar dbSNP |
2 | g.219418929A>C | CA350686464 | DES | c.467A>C (p.Glu156Ala) | |
2 | g.219418929A>G | CA350686471 | DES | c.467A>G (p.Glu156Gly) | gnomAD v4 |
2 | g.219418929A>T | CA350686474 | DES | c.467A>T (p.Glu156Val) | ClinVar dbSNP |
2 | g.219418930G>A | CA431427851 | DES | c.468G>A (p.Glu156=) | |
2 | g.219418930G>C | CA350686481 | DES | c.468G>C (p.Glu156Asp) | |
2 | g.219418930G>T | CA350686482 | DES | c.468G>T (p.Glu156Asp) | |
2 | g.219418931G>A | CA350686483 | DES | c.469G>A (p.Glu157Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418931G>C | CA350686485 | DES | c.469G>C (p.Glu157Gln) | |
2 | g.219418931G= | CA1329210092 | DES | c.469G= (p.Glu157=) | |
2 | g.219418931G>T | CA350686490 | DES | c.469G>T (p.Glu157Ter) | |
2 | g.219418932A>C | CA350686504 | DES | c.470A>C (p.Glu157Ala) | |
2 | g.219418932A>G | CA350686502 | DES | c.470A>G (p.Glu157Gly) | |
2 | g.219418932A>T | CA350686497 | DES | c.470A>T (p.Glu157Val) | |
2 | g.219418933G>A | CA431427856 | DES | c.471G>A (p.Glu157=) | |
2 | g.219418933G>C | CA350686507 | DES | c.471G>C (p.Glu157Asp) | |
2 | g.219418933G>T | CA350686510 | DES | c.471G>T (p.Glu157Asp) | |
2 | g.219418943_219418951dup | CA2577252530 | DES | c.481_489dup (p.Arg163_Arg164insGluLeuArg) | ClinVar |
2 | g.219418934G>A | CA350686516 | DES | c.472G>A (p.Glu158Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418934G>C | CA350686517 | DES | c.472G>C (p.Glu158Gln) | |
2 | g.219418934G= | CA1329210093 | DES | c.472G= (p.Glu158=) | |
2 | g.219418934G>T | CA350686524 | DES | c.472G>T (p.Glu158Ter) | |
2 | g.219418935A= | CA1329210094 | DES | c.473A= (p.Glu158=) | |
2 | g.219418935A>C | CA350686530 | DES | c.473A>C (p.Glu158Ala) | |
2 | g.219418935A>G | CA350686535 | DES | c.473A>G (p.Glu158Gly) | gnomAD v4 |
2 | g.219418935A>T | CA350686538 | DES | c.473A>T (p.Glu158Val) | ClinVar dbSNP |
2 | g.219418936G>A | CA431427858 | DES | c.474G>A (p.Glu158=) | gnomAD v4 |
2 | g.219418936G>C | CA350686540 | DES | c.474G>C (p.Glu158Asp) | |
2 | g.219418936G>T | CA350686543 | DES | c.474G>T (p.Glu158Asp) | gnomAD v4 |
2 | g.219418937C>A | CA350686545 | DES | c.475C>A (p.Leu159Met) | dbSNP gnomAD v4 |
2 | g.219418937C= | CA1329210095 | DES | c.475C= (p.Leu159=) | |
2 | g.219418937C>G | CA350686549 | DES | c.475C>G (p.Leu159Val) | |
2 | g.219418937C>T | CA431427860 | DES | c.475C>T (p.Leu159=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418938T>A | CA350686554 | DES | c.476T>A (p.Leu159Gln) | |
2 | g.219418938T>C | CA350686551 | DES | c.476T>C (p.Leu159Pro) | ClinVar dbSNP gnomAD v4 |
2 | g.219418938T>G | CA350686550 | DES | c.476T>G (p.Leu159Arg) | |
2 | g.219418938T= | CA1329210096 | DES | c.476T= (p.Leu159=) | |
2 | g.219418939G>A | CA431427865 | DES | c.477G>A (p.Leu159=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418939G>C | CA431427866 | DES | c.477G>C (p.Leu159=) | |
2 | g.219418939G= | CA1329210097 | DES | c.477G= (p.Leu159=) | |
2 | g.219418939G>T | CA431427867 | DES | c.477G>T (p.Leu159=) | gnomAD v4 |
2 | g.219418940C>A | CA431427868 | DES | c.478C>A (p.Arg160=) | gnomAD v4 |
2 | g.219418940C= | CA1329210098 | DES | c.478C= (p.Arg160=) | |
2 | g.219418940C>G | CA350686556 | DES | c.478C>G (p.Arg160Gly) | |
2 | g.219418940C>T | CA350686558 | DES | c.478C>T (p.Arg160Trp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418941G>A | CA350686563 | DES | c.479G>A (p.Arg160Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418941G>C | CA350686566 | DES | c.479G>C (p.Arg160Pro) | gnomAD v4 |
2 | g.219418941G= | CA1329210099 | DES | c.479G= (p.Arg160=) | |
2 | g.219418941G>T | CA350686567 | DES | c.479G>T (p.Arg160Leu) | |
2 | g.219418942G>A | CA431427877 | DES | c.480G>A (p.Arg160=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418942G>C | CA431427875 | DES | c.480G>C (p.Arg160=) | ClinVar dbSNP |
2 | g.219418942G= | CA1329210100 | DES | c.480G= (p.Arg160=) | |
2 | g.219418942G>T | CA431427876 | DES | c.480G>T (p.Arg160=) | gnomAD v4 |
2 | g.219418943G>A | CA350686570 | DES | c.481G>A (p.Glu161Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418943G>C | CA350686571 | DES | c.481G>C (p.Glu161Gln) | |
2 | g.219418943G= | CA1329210101 | DES | c.481G= (p.Glu161=) | |
2 | g.219418943G>T | CA350686573 | DES | c.481G>T (p.Glu161Ter) | gnomAD v4 |
2 | g.219418944A= | CA1329210102 | DES | c.482A= (p.Glu161=) | |
2 | g.219418944A>C | CA350686574 | DES | c.482A>C (p.Glu161Ala) | gnomAD v4 |
2 | g.219418944A>G | CA350686579 | DES | c.482A>G (p.Glu161Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418944A>T | CA350686581 | DES | c.482A>T (p.Glu161Val) | |
2 | g.219418944_219418952dup | CA2580065786 | DES | c.482_490dup (p.Arg163_Arg164insGlnLeuArg) | ClinVar |
2 | g.219418945G>A | CA431427879 | DES | c.483G>A (p.Glu161=) | |
2 | g.219418945G>C | CA350686583 | DES | c.483G>C (p.Glu161Asp) | ClinVar |
2 | g.219418945G>T | CA350686585 | DES | c.483G>T (p.Glu161Asp) | gnomAD v4 |
2 | g.219418946C>A | CA350686589 | DES | c.484C>A (p.Leu162Met) | gnomAD v4 |
2 | g.219418946C= | CA1329210103 | DES | c.484C= (p.Leu162=) | |
2 | g.219418946C>G | CA350686591 | DES | c.484C>G (p.Leu162Val) | |
2 | g.219418946C>T | CA431427883 | DES | c.484C>T (p.Leu162=) | gnomAD v4 |
2 | g.219418947T>A | CA350686594 | DES | c.485T>A (p.Leu162Gln) | |
2 | g.219418947T>C | CA350686595 | DES | c.485T>C (p.Leu162Pro) | gnomAD v4 |
2 | g.219418947T>G | CA350686598 | DES | c.485T>G (p.Leu162Arg) | dbSNP |
2 | g.219418947T= | CA1329210104 | DES | c.485T= (p.Leu162=) | |
2 | g.219418950_219418967dup | CA916081390 | DES | c.488_505dup (p.Val168_Leu169insArgArgGlnValGluVal) c.488_495+10dup | ClinVar dbSNP |
2 | g.219418948G>A | CA431427886 | DES | c.486G>A (p.Leu162=) | |
2 | g.219418948G>C | CA431427884 | DES | c.486G>C (p.Leu162=) | |
2 | g.219418948G>T | CA431427885 | DES | c.486G>T (p.Leu162=) | gnomAD v4 |
2 | g.219418949C>A | CA431427887 | DES | c.487C>A (p.Arg163=) | gnomAD v4 |
2 | g.219418949C>G | CA350686602 | DES | c.487C>G (p.Arg163Gly) | |
2 | g.219418949C>T | CA350686603 | DES | c.487C>T (p.Arg163Trp) | gnomAD v4 |
2 | g.219418950G>A | CA350686609 | DES | c.488G>A (p.Arg163Gln) | ClinVar dbSNP |
2 | g.219418950G>C | CA350686610 | DES | c.488G>C (p.Arg163Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418950G= | CA1329210105 | DES | c.488G= (p.Arg163=) | |
2 | g.219418950G>T | CA350686614 | DES | c.488G>T (p.Arg163Leu) | gnomAD v4 |
2 | g.219418951G>A | CA431427890 | DES | c.489G>A (p.Arg163=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418951G>C | CA431427891 | DES | c.489G>C (p.Arg163=) | |
2 | g.219418951G= | CA1329210106 | DES | c.489G= (p.Arg163=) | |
2 | g.219418951G>T | CA431427892 | DES | c.489G>T (p.Arg163=) | |
2 | g.219418952C>A | CA350686616 | DES | c.490C>A (p.Arg164Ser) | ClinVar gnomAD v4 |
2 | g.219418952C>G | CA350686619 | DES | c.490C>G (p.Arg164Gly) | |
2 | g.219418952C>T | CA350686622 | DES | c.490C>T (p.Arg164Cys) | gnomAD v4 |
2 | g.219418953G>A | CA350686630 | DES | c.491G>A (p.Arg164His) | dbSNP gnomAD v4 |
2 | g.219418953G>C | CA350686627 | DES | c.491G>C (p.Arg164Pro) | |
2 | g.219418953G= | CA1329210107 | DES | c.491G= (p.Arg164=) | |
2 | g.219418953G>T | CA350686626 | DES | c.491G>T (p.Arg164Leu) | gnomAD v4 |
2 | g.219418954C>A | CA431427893 | DES | c.492C>A (p.Arg164=) | gnomAD v4 |
2 | g.219418954C= | CA1329210108 | DES | c.492C= (p.Arg164=) | |
2 | g.219418954C>G | CA431427894 | DES | c.492C>G (p.Arg164=) | |
2 | g.219418954C>T | CA431427895 | DES | c.492C>T (p.Arg164=) | dbSNP gnomAD v2 |
2 | g.219418954_219418982delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG | CA1329210109 | DES | c.492_520delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG (p.Arg164=) c.492_495+25delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG | |
2 | g.219418955C>A | CA350686632 | DES | c.493C>A (p.Gln165Lys) | |
2 | g.219418955C>G | CA350686644 | DES | c.493C>G (p.Gln165Glu) | |
2 | g.219418955C>T | CA350686641 | DES | c.493C>T (p.Gln165Ter) | gnomAD v4 |
2 | g.219418955_219418982delinsGCGT | CA645369281 | DES | c.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer) c.493_495+25delinsGCGT | ClinVar dbSNP |
2 | g.219418956A= | CA1329210110 | DES | c.494A= (p.Gln165=) | |
2 | g.219418956A>C | CA350686646 | DES | c.494A>C (p.Gln165Pro) | |
2 | g.219418956A>G | CA350686649 | DES | c.494A>G (p.Gln165Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418956A>T | CA350686652 | DES | c.494A>T (p.Gln165Leu) | |
2 | g.219418957G>A | CA431427897 | DES | c.495G>A (p.Gln165=) | gnomAD v4 |
2 | g.219418957G>C | CA350686655 | DES | c.495G>C (p.Gln165His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418957G= | CA1329210111 | DES | c.495G= (p.Gln165=) | |
2 | g.219418957G>T | CA350686657 | DES | c.495G>T (p.Gln165His) | gnomAD v4 |
2 | g.219418958G>A | CA350686662 | DES | c.496G>A (p.Val166Met) c.495+1G>A (n.495+1G>A) | |
2 | g.219418958G>C | CA350686664 | DES | c.496G>C (p.Val166Leu) c.495+1G>C (n.495+1G>C) | |
2 | g.219418958G>T | CA350686669 | DES | c.496G>T (p.Val166Leu) c.495+1G>T (n.495+1G>T) | gnomAD v4 |
2 | g.219418959T>A | CA350686672 | DES | c.497T>A (p.Val166Glu) c.495+2T>A (n.495+2T>A) | |
2 | g.219418959T>C | CA350686675 | DES | c.497T>C (p.Val166Ala) c.495+2T>C (n.495+2T>C) | |
2 | g.219418959T>G | CA350686679 | DES | c.497T>G (p.Val166Gly) c.495+2T>G (n.495+2T>G) | gnomAD v4 |
2 | g.219418960G>A | CA431427901 | DES | c.498G>A (p.Val166=) c.495+3G>A (n.495+3G>A) | |
2 | g.219418960G>C | CA431427902 | DES | c.498G>C (p.Val166=) c.495+3G>C (n.495+3G>C) | |
2 | g.219418960G>T | CA431427903 | DES | c.498G>T (p.Val166=) c.495+3G>T (n.495+3G>T) | |
2 | g.219418961G>A | CA350686688 | DES | c.499G>A (p.Glu167Lys) c.495+4G>A (n.495+4G>A) | gnomAD v4 |
2 | g.219418961G>C | CA350686685 | DES | c.499G>C (p.Glu167Gln) c.495+4G>C (n.495+4G>C) | dbSNP gnomAD v4 |
2 | g.219418961G= | CA1329210112 | DES | c.499G= (p.Glu167=) c.495+4G= (n.495+4G=) | |
2 | g.219418961G>T | CA350686682 | DES | c.499G>T (p.Glu167Ter) c.495+4G>T (n.495+4G>T) | |
2 | g.219418962A= | CA1329210113 | DES | c.500A= (p.Glu167=) c.495+5A= (n.495+5A=) | |
2 | g.219418962A>C | CA350686691 | DES | c.500A>C (p.Glu167Ala) c.495+5A>C (n.495+5A>C) | |
2 | g.219418962A>G | CA350686692 | DES | c.500A>G (p.Glu167Gly) c.495+5A>G (n.495+5A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.219418962A>T | CA350686694 | DES | c.500A>T (p.Glu167Val) c.495+5A>T (n.495+5A>T) | ClinVar dbSNP gnomAD v4 |
2 | g.219418963G>A | CA431427907 | DES | c.501G>A (p.Glu167=) c.495+6G>A (n.495+6G>A) | |
2 | g.219418963G>C | CA350686698 | DES | c.501G>C (p.Glu167Asp) c.495+6G>C (n.495+6G>C) | |
2 | g.219418963G= | CA1329210114 | DES | c.501G= (p.Glu167=) c.495+6G= (n.495+6G=) | |
2 | g.219418963G>T | CA350686701 | DES | c.501G>T (p.Glu167Asp) c.495+6G>T (n.495+6G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418964G>A | CA350686705 | DES | c.502G>A (p.Val168Met) c.495+7G>A (n.495+7G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418964G>C | CA350686708 | DES | c.502G>C (p.Val168Leu) c.495+7G>C (n.495+7G>C) | |
2 | g.219418964G= | CA1329210115 | DES | c.502G= (p.Val168=) c.495+7G= (n.495+7G=) | |
2 | g.219418964G>T | CA350686710 | DES | c.502G>T (p.Val168Leu) c.495+7G>T (n.495+7G>T) | |
2 | g.219418965T>A | CA350686715 | DES | c.503T>A (p.Val168Glu) c.495+8T>A (n.495+8T>A) | |
2 | g.219418965T>C | CA350686718 | DES | c.503T>C (p.Val168Ala) c.495+8T>C (n.495+8T>C) | |
2 | g.219418965T>G | CA350686719 | DES | c.503T>G (p.Val168Gly) c.495+8T>G (n.495+8T>G) | |
2 | g.219418966G>A | CA431427909 | DES | c.504G>A (p.Val168=) c.495+9G>A (n.495+9G>A) | gnomAD v4 |
2 | g.219418966G>C | CA431427910 | DES | c.504G>C (p.Val168=) c.495+9G>C (n.495+9G>C) | dbSNP |
2 | g.219418966G= | CA1329210116 | DES | c.504G= (p.Val168=) c.495+9G= (n.495+9G=) | |
2 | g.219418966G>T | CA431427911 | DES | c.504G>T (p.Val168=) c.495+9G>T (n.495+9G>T) | |
2 | g.219418967C>A | CA350686727 | DES | c.505C>A (p.Leu169Ile) c.495+10C>A (n.495+10C>A) | gnomAD v4 |
2 | g.219418967C= | CA1329210117 | DES | c.505C= (p.Leu169=) c.495+10C= (n.495+10C=) | |
2 | g.219418967C>G | CA350686726 | DES | c.505C>G (p.Leu169Val) c.495+10C>G (n.495+10C>G) | |
2 | g.219418967C>T | CA350686724 | DES | c.505C>T (p.Leu169Phe) c.495+10C>T (n.495+10C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418968T>A | CA350686729 | DES | c.506T>A (p.Leu169His) c.495+11T>A (n.495+11T>A) | |
2 | g.219418968T>C | CA350686732 | DES | c.506T>C (p.Leu169Pro) c.495+11T>C (n.495+11T>C) | gnomAD v4 |
2 | g.219418968T>G | CA350686735 | DES | c.506T>G (p.Leu169Arg) c.495+11T>G (n.495+11T>G) | |
2 | g.219418969C>A | CA431427915 | DES | c.507C>A (p.Leu169=) c.495+12C>A (n.495+12C>A) | |
2 | g.219418969C>G | CA431427913 | DES | c.507C>G (p.Leu169=) c.495+12C>G (n.495+12C>G) | |
2 | g.219418969C>T | CA431427914 | DES | c.507C>T (p.Leu169=) c.495+12C>T (n.495+12C>T) | gnomAD v4 |
2 | g.219418970A>C | CA350686739 | DES | c.508A>C (p.Thr170Pro) c.495+13A>C (n.495+13A>C) | |
2 | g.219418970A>G | CA350686742 | DES | c.508A>G (p.Thr170Ala) c.495+13A>G (n.495+13A>G) | gnomAD v4 |
2 | g.219418970A>T | CA350686744 | DES | c.508A>T (p.Thr170Ser) c.495+13A>T (n.495+13A>T) | |
2 | g.219418971del | CA2663250410 | DES | c.509del (p.Thr170IlefsTer?) c.495+14del (n.495+14del) | gnomAD v4 |
2 | g.219418971C>A | CA350686748 | DES | c.509C>A (p.Thr170Asn) c.495+14C>A (n.495+14C>A) | gnomAD v4 |
2 | g.219418971C= | CA1329210118 | DES | c.509C= (p.Thr170=) c.495+14C= (n.495+14C=) | |
2 | g.219418971C>G | CA350686751 | DES | c.509C>G (p.Thr170Ser) c.495+14C>G (n.495+14C>G) | |
2 | g.219418971C>T | CA350686754 | DES | c.509C>T (p.Thr170Ile) c.495+14C>T (n.495+14C>T) | dbSNP gnomAD v4 |
2 | g.219418972T>A | CA431427916 | DES | c.510T>A (p.Thr170=) c.495+15T>A (n.495+15T>A) | |
2 | g.219418972T>C | CA431427917 | DES | c.510T>C (p.Thr170=) c.495+15T>C (n.495+15T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.219418972T>G | CA431427918 | DES | c.510T>G (p.Thr170=) c.495+15T>G (n.495+15T>G) | |
2 | g.219418972T= | CA1329210119 | DES | c.510T= (p.Thr170=) c.495+15T= (n.495+15T=) | |
2 | g.219418973A>C | CA350686757 | DES | c.511A>C (p.Asn171His) c.495+16A>C (n.495+16A>C) | |
2 | g.219418973A>G | CA350686758 | DES | c.511A>G (p.Asn171Asp) c.495+16A>G (n.495+16A>G) | gnomAD v4 |
2 | g.219418973A>T | CA350686760 | DES | c.511A>T (p.Asn171Tyr) c.495+16A>T (n.495+16A>T) | gnomAD v4 |
2 | g.219418974A>C | CA350686771 | DES | c.512A>C (p.Asn171Thr) c.495+17A>C (n.495+17A>C) | ClinVar |
2 | g.219418974A>G | CA350686768 | DES | c.512A>G (p.Asn171Ser) c.495+17A>G (n.495+17A>G) | gnomAD v4 |
2 | g.219418974A>T | CA350686764 | DES | c.512A>T (p.Asn171Ile) c.495+17A>T (n.495+17A>T) | |
2 | g.219418975C>A | CA350686774 | DES | c.513C>A (p.Asn171Lys) c.495+18C>A (n.495+18C>A) | gnomAD v4 |
2 | g.219418975C>G | CA350686776 | DES | c.513C>G (p.Asn171Lys) c.495+18C>G (n.495+18C>G) | |
2 | g.219418975C>T | CA431427919 | DES | c.513C>T (p.Asn171=) c.495+18C>T (n.495+18C>T) | |
2 | g.219418976del | CA2663250414 | DES | c.514del (p.Gln172SerfsTer29) c.495+19del (n.495+19del) | gnomAD v4 |
2 | g.219418976C>A | CA350686780 | DES | c.514C>A (p.Gln172Lys) c.495+19C>A (n.495+19C>A) | gnomAD v4 |
2 | g.219418976C= | CA1329210121 | DES | c.514C= (p.Gln172=) c.495+19C= (n.495+19C=) | |
2 | g.219418976C>G | CA350686783 | DES | c.514C>G (p.Gln172Glu) c.495+19C>G (n.495+19C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418976C>T | CA350686786 | DES | c.514C>T (p.Gln172Ter) c.495+19C>T (n.495+19C>T) | ClinVar dbSNP |
2 | g.219418976_219418997delinsCAGCGCGCGCGCGTCGACGTCG | CA1329210120 | DES | c.514_535delinsCAGCGCGCGCGCGTCGACGTCG (p.Gln172=) c.495+19_495+40delinsCAGCGCGCGCGCGTCGACGTCG (n.495+19_495+40delinsCAGCGCGCGCGCGTCGACGTCG) | |
2 | g.219418977A>C | CA350686790 | DES | c.515A>C (p.Gln172Pro) c.495+20A>C (n.495+20A>C) | ClinVar dbSNP |
2 | g.219418977A>G | CA350686793 | DES | c.515A>G (p.Gln172Arg) c.495+20A>G (n.495+20A>G) | gnomAD v4 |
2 | g.219418977A>T | CA350686796 | DES | c.515A>T (p.Gln172Leu) c.495+20A>T (n.495+20A>T) | ClinVar gnomAD v4 |
2 | g.219418977_219418979delinsAGC | CA1329210122 | DES | c.515_517delinsAGC (p.Gln172=) c.495+20_495+22delinsAGC (n.495+20_495+22delinsAGC) | |
2 | g.219418983_219419003del | CA217075 | DES | c.521_541del (p.Ala174_Arg180del) c.495+26_495+46del (n.495+26_495+46del) | ClinVar dbSNP |
2 | g.219418978G>A | CA65981284 | DES | c.516G>A (p.Gln172=) c.495+21G>A (n.495+21G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418978G>C | CA350686804 | DES | c.516G>C (p.Gln172His) c.495+21G>C (n.495+21G>C) | gnomAD v4 |
2 | g.219418978G= | CA1329210123 | DES | c.516G= (p.Gln172=) c.495+21G= (n.495+21G=) | |
2 | g.219418978G>T | CA350686815 | DES | c.516G>T (p.Gln172His) c.495+21G>T (n.495+21G>T) | COSMIC |
2 | g.219418987_219418988dup | CA2580616703 | DES | c.525_526dup (p.Val176AlafsTer26) c.495+30_495+31dup (n.495+30_495+31dup) | ClinVar |
2 | g.219418987_219418988del | CA2125073 | DES | c.525_526del (p.Val176ArgfsTer?) c.495+30_495+31del (n.495+30_495+31del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418979C>A | CA2125074 | DES | c.517C>A (p.Arg173Ser) c.495+22C>A (n.495+22C>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.219418979C= | CA1329210124 | DES | c.517C= (p.Arg173=) c.495+22C= (n.495+22C=) | |
2 | g.219418979C>G | CA350686826 | DES | c.517C>G (p.Arg173Gly) c.495+22C>G (n.495+22C>G) | ClinVar |
2 | g.219418979C>T | CA350686823 | DES | c.517C>T (p.Arg173Cys) c.495+22C>T (n.495+22C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418980G>A | CA65981288 | DES | c.518G>A (p.Arg173His) c.495+23G>A (n.495+23G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418980G>C | CA350686829 | DES | c.518G>C (p.Arg173Pro) c.495+23G>C (n.495+23G>C) | |
2 | g.219418980G= | CA1329210125 | DES | c.518G= (p.Arg173=) c.495+23G= (n.495+23G=) | |
2 | g.219418980G>T | CA350686832 | DES | c.518G>T (p.Arg173Leu) c.495+23G>T (n.495+23G>T) | gnomAD v4 |
2 | g.219418985_219419003del | CA2663250435 | DES | c.523_541del (p.Arg175ThrfsTer20) c.495+28_495+46del (n.495+28_495+46del) | gnomAD v4 |
2 | g.219418981C>A | CA431427925 | DES | c.519C>A (p.Arg173=) c.495+24C>A (n.495+24C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.219418981C= | CA1329210126 | DES | c.519C= (p.Arg173=) c.495+24C= (n.495+24C=) | |
2 | g.219418981C>G | CA2125075 | DES | c.519C>G (p.Arg173=) c.495+24C>G (n.495+24C>G) | dbSNP ExAC gnomAD v2 |
2 | g.219418981C>T | CA431427927 | DES | c.519C>T (p.Arg173=) c.495+24C>T (n.495+24C>T) | gnomAD v4 |
2 | g.219418982G>A | CA350686838 | DES | c.520G>A (p.Ala174Thr) c.495+25G>A (n.495+25G>A) | ClinVar gnomAD v4 |
2 | g.219418982G>C | CA2125076 | DES | c.520G>C (p.Ala174Pro) c.495+25G>C (n.495+25G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418982G= | CA1329210127 | DES | c.520G= (p.Ala174=) c.495+25G= (n.495+25G=) | |
2 | g.219418982G>T | CA350686842 | DES | c.520G>T (p.Ala174Ser) c.495+25G>T (n.495+25G>T) | gnomAD v4 |
2 | g.219418983C>A | CA350686850 | DES | c.521C>A (p.Ala174Glu) c.495+26C>A (n.495+26C>A) | gnomAD v4 |
2 | g.219418983C= | CA1329210128 | DES | c.521C= (p.Ala174=) c.495+26C= (n.495+26C=) | |
2 | g.219418983C>G | CA350686847 | DES | c.521C>G (p.Ala174Gly) c.495+26C>G (n.495+26C>G) | |
2 | g.219418983C>T | CA350686844 | DES | c.521C>T (p.Ala174Val) c.495+26C>T (n.495+26C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418984G>A | CA431427928 | DES | c.522G>A (p.Ala174=) c.495+27G>A (n.495+27G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418984G>C | CA431427929 | DES | c.522G>C (p.Ala174=) c.495+27G>C (n.495+27G>C) | ClinVar dbSNP |
2 | g.219418984G= | CA1329210129 | DES | c.522G= (p.Ala174=) c.495+27G= (n.495+27G=) | |
2 | g.219418984G>T | CA431427930 | DES | c.522G>T (p.Ala174=) c.495+27G>T (n.495+27G>T) | gnomAD v4 |
2 | g.219418985C>A | CA350686853 | DES | c.523C>A (p.Arg175Ser) c.495+28C>A (n.495+28C>A) | gnomAD v4 |
2 | g.219418985C= | CA1329210130 | DES | c.523C= (p.Arg175=) c.495+28C= (n.495+28C=) | |
2 | g.219418985C>G | CA350686857 | DES | c.523C>G (p.Arg175Gly) c.495+28C>G (n.495+28C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418985C>T | CA350686859 | DES | c.523C>T (p.Arg175Cys) c.495+28C>T (n.495+28C>T) | gnomAD v4 COSMIC |
2 | g.219418986G>A | CA10581948 | DES | c.524G>A (p.Arg175His) c.495+29G>A (n.495+29G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418986G>C | CA350686867 | DES | c.524G>C (p.Arg175Pro) c.495+29G>C (n.495+29G>C) | |
2 | g.219418986G= | CA1329210131 | DES | c.524G= (p.Arg175=) c.495+29G= (n.495+29G=) | |
2 | g.219418986G>T | CA350686870 | DES | c.524G>T (p.Arg175Leu) c.495+29G>T (n.495+29G>T) | gnomAD v4 |
2 | g.219418986_219418988del | CA2577252533 | DES | c.524_526del (p.Arg175_Val176delinsLeu) c.495+29_495+31del (n.495+29_495+31del) | |
2 | g.219418987C>A | CA431427933 | DES | c.525C>A (p.Arg175=) c.495+30C>A (n.495+30C>A) | ClinVar dbSNP |
2 | g.219418987C= | CA1329210132 | DES | c.525C= (p.Arg175=) c.495+30C= (n.495+30C=) | |
2 | g.219418987C>G | CA431427934 | DES | c.525C>G (p.Arg175=) c.495+30C>G (n.495+30C>G) | |
2 | g.219418987C>T | CA431427935 | DES | c.525C>T (p.Arg175=) c.495+30C>T (n.495+30C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418988G>A | CA350686874 | DES | c.526G>A (p.Val176Ile) c.495+31G>A (n.495+31G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418988G>C | CA350686881 | DES | c.526G>C (p.Val176Leu) c.495+31G>C (n.495+31G>C) | dbSNP |
2 | g.219418988G= | CA1329210133 | DES | c.526G= (p.Val176=) c.495+31G= (n.495+31G=) | |
2 | g.219418988G>T | CA350686878 | DES | c.526G>T (p.Val176Phe) c.495+31G>T (n.495+31G>T) | |
2 | g.219418989T>A | CA350686886 | DES | c.527T>A (p.Val176Asp) c.495+32T>A (n.495+32T>A) | |
2 | g.219418989T>C | CA350686889 | DES | c.527T>C (p.Val176Ala) c.495+32T>C (n.495+32T>C) | gnomAD v4 |
2 | g.219418989T>G | CA350686892 | DES | c.527T>G (p.Val176Gly) c.495+32T>G (n.495+32T>G) | |
2 | g.219418990C>A | CA431427936 | DES | c.528C>A (p.Val176=) c.495+33C>A (n.495+33C>A) | gnomAD v4 |
2 | g.219418990C= | CA1329210134 | DES | c.528C= (p.Val176=) c.495+33C= (n.495+33C=) | |
2 | g.219418990C>G | CA16604070 | DES | c.528C>G (p.Val176=) c.495+33C>G (n.495+33C>G) | ClinVar dbSNP |
2 | g.219418990C>T | CA431427937 | DES | c.528C>T (p.Val176=) c.495+33C>T (n.495+33C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.219418991G>A | CA16604072 | DES | c.529G>A (p.Asp177Asn) c.495+34G>A (n.495+34G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.219418991G>C | CA350686897 | DES | c.529G>C (p.Asp177His) c.495+34G>C (n.495+34G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418991G= | CA1329210135 | DES | c.529G= (p.Asp177=) c.495+34G= (n.495+34G=) | |
2 | g.219418991G>T | CA350686899 | DES | c.529G>T (p.Asp177Tyr) c.495+34G>T (n.495+34G>T) | gnomAD v4 |
2 | g.219418992A>C | CA350686902 | DES | c.530A>C (p.Asp177Ala) c.495+35A>C (n.495+35A>C) | |
2 | g.219418992A>G | CA350686904 | DES | c.530A>G (p.Asp177Gly) c.495+35A>G (n.495+35A>G) | |
2 | g.219418992A>T | CA350686906 | DES | c.530A>T (p.Asp177Val) c.495+35A>T (n.495+35A>T) | |
2 | g.219418993C>A | CA350686912 | DES | c.531C>A (p.Asp177Glu) c.495+36C>A (n.495+36C>A) | gnomAD v4 |
2 | g.219418993C>G | CA350686914 | DES | c.531C>G (p.Asp177Glu) c.495+36C>G (n.495+36C>G) | |
2 | g.219418993C>T | CA431427938 | DES | c.531C>T (p.Asp177=) c.495+36C>T (n.495+36C>T) | gnomAD v4 |
2 | g.219418994del | CA2663250456 | DES | c.532del (p.Val178SerfsTer23) c.495+37del (n.495+37del) | gnomAD v4 |
2 | g.219418994G>A | CA350686919 | DES | c.532G>A (p.Val178Ile) c.495+37G>A (n.495+37G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418994G>C | CA350686924 | DES | c.532G>C (p.Val178Leu) c.495+37G>C (n.495+37G>C) | |
2 | g.219418994G= | CA1329210136 | DES | c.532G= (p.Val178=) c.495+37G= (n.495+37G=) | |
2 | g.219418994G>T | CA350686921 | DES | c.532G>T (p.Val178Phe) c.495+37G>T (n.495+37G>T) | |
2 | g.219418994_219419009delinsGTCGAGCGCGACAACC | CA1329210137 | DES | c.532_547delinsGTCGAGCGCGACAACC (p.Val178=) c.495+37_495+52delinsGTCGAGCGCGACAACC (n.495+37_495+52delinsGTCGAGCGCGACAACC) | |
2 | g.219418994_219419012delinsGTCGAGCGCGACAACCTGC | CA1329210138 | DES | c.532_550delinsGTCGAGCGCGACAACCTGC (p.Val178=) c.495+37_495+55delinsGTCGAGCGCGACAACCTGC (n.495+37_495+55delinsGTCGAGCGCGACAACCTGC) | |
2 | g.219418995T>A | CA350686929 | DES | c.533T>A (p.Val178Asp) c.495+38T>A (n.495+38T>A) | |
2 | g.219418995T>C | CA350686931 | DES | c.533T>C (p.Val178Ala) c.495+38T>C (n.495+38T>C) | dbSNP gnomAD v4 |
2 | g.219418995T>G | CA350686935 | DES | c.533T>G (p.Val178Gly) c.495+38T>G (n.495+38T>G) | |
2 | g.219418995T= | CA1329210140 | DES | c.533T= (p.Val178=) c.495+38T= (n.495+38T=) | |
2 | g.219418996_219419010del | CA1329210139 | DES | c.534_548del (p.Glu179_Leu183del) c.495+39_495+53del (n.495+39_495+53del) | dbSNP |
2 | g.219418999_219419016del | CA539843108 | DES | c.537_554del (p.Glu179_Leu184del) c.495+42_495+59del (n.495+42_495+59del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418996C>A | CA431427942 | DES | c.534C>A (p.Val178=) c.495+39C>A (n.495+39C>A) | dbSNP gnomAD v4 |
2 | g.219418996C= | CA1329210141 | DES | c.534C= (p.Val178=) c.495+39C= (n.495+39C=) | |
2 | g.219418996C>G | CA431427943 | DES | c.534C>G (p.Val178=) c.495+39C>G (n.495+39C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418996C>T | CA431427944 | DES | c.534C>T (p.Val178=) c.495+39C>T (n.495+39C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418999_219419004dup | CA2580065793 | DES | c.537_542dup (p.Arg180_Asp181insGluArg) c.495+42_495+47dup (n.495+42_495+47dup) | ClinVar |
2 | g.219418997G>A | CA350686939 | DES | c.535G>A (p.Glu179Lys) c.495+40G>A (n.495+40G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418997G>C | CA350686942 | DES | c.535G>C (p.Glu179Gln) c.495+40G>C (n.495+40G>C) | gnomAD v4 |
2 | g.219418997G= | CA1329210142 | DES | c.535G= (p.Glu179=) c.495+40G= (n.495+40G=) | |
2 | g.219418997G>T | CA350686946 | DES | c.535G>T (p.Glu179Ter) c.495+40G>T (n.495+40G>T) | gnomAD v4 |
2 | g.219418998_219419011del | CA2663250457 | DES | c.536_549del (p.Glu179AlafsTer?) c.495+41_495+54del (n.495+41_495+54del) | gnomAD v4 |
2 | g.219418998A= | CA1329210143 | DES | c.536A= (p.Glu179=) c.495+41A= (n.495+41A=) | |
2 | g.219418998A>C | CA350686950 | DES | c.536A>C (p.Glu179Ala) c.495+41A>C (n.495+41A>C) | |
2 | g.219418998A>G | CA350686952 | DES | c.536A>G (p.Glu179Gly) c.495+41A>G (n.495+41A>G) | |
2 | g.219418998A>T | CA350686956 | DES | c.536A>T (p.Glu179Val) c.495+41A>T (n.495+41A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418999G>A | CA431427945 | DES | c.537G>A (p.Glu179=) c.495+42G>A (n.495+42G>A) | dbSNP |
2 | g.219418999G>C | CA350686960 | DES | c.537G>C (p.Glu179Asp) c.495+42G>C (n.495+42G>C) | |
2 | g.219418999G>T | CA350686963 | DES | c.537G>T (p.Glu179Asp) c.495+42G>T (n.495+42G>T) | gnomAD v4 |
2 | g.219419000C>A | CA350686973 | DES | c.538C>A (p.Arg180Ser) c.495+43C>A (n.495+43C>A) | gnomAD v4 |
2 | g.219419000C>G | CA350686970 | DES | c.538C>G (p.Arg180Gly) c.495+43C>G (n.495+43C>G) | |
2 | g.219419000C>T | CA350686968 | DES | c.538C>T (p.Arg180Cys) c.495+43C>T (n.495+43C>T) | gnomAD v4 |
2 | g.219419001G>A | CA350686976 | DES | c.539G>A (p.Arg180His) c.495+44G>A (n.495+44G>A) | gnomAD v4 |
2 | g.219419001G>C | CA350686977 | DES | c.539G>C (p.Arg180Pro) c.495+44G>C (n.495+44G>C) | |
2 | g.219419001G= | CA1329210144 | DES | c.539G= (p.Arg180=) c.495+44G= (n.495+44G=) | |
2 | g.219419001G>T | CA2125077 | DES | c.539G>T (p.Arg180Leu) c.495+44G>T (n.495+44G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219419001_219419013delinsGCGACAACCTGCT | CA1329210145 | DES | c.539_551delinsGCGACAACCTGCT (p.Arg180=) c.495+44_495+56delinsGCGACAACCTGCT (n.495+44_495+56delinsGCGACAACCTGCT) | |
2 | g.219419002C>A | CA431427948 | DES | c.540C>A (p.Arg180=) c.495+45C>A (n.495+45C>A) | gnomAD v4 |
2 | g.219419002C= | CA1329210146 | DES | c.540C= (p.Arg180=) c.495+45C= (n.495+45C=) | |
2 | g.219419002C>G | CA431427949 | DES | c.540C>G (p.Arg180=) c.495+45C>G (n.495+45C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219419002C>T | CA2125078 | DES | c.540C>T (p.Arg180=) c.495+45C>T (n.495+45C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219419006_219419017del | CA916081392 | DES | c.544_555del (p.Asn182_Asp185del) c.495+49_495+60del (n.495+49_495+60del) | ClinVar dbSNP |
2 | g.219419006_219419020del | CA2580065795 | DES | c.544_558del (p.Asn182_Asp186del) c.495+49_495+63del (n.495+49_495+63del) | ClinVar |
2 | g.219419003G>A | CA350686998 | DES | c.541G>A (p.Asp181Asn) c.495+46G>A (n.495+46G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219419003G>C | CA350686999 | DES | c.541G>C (p.Asp181His) c.495+46G>C (n.495+46G>C) | ClinVar dbSNP gnomAD v4 |
2 | g.219419003G= | CA1329210147 | DES | c.541G= (p.Asp181=) c.495+46G= (n.495+46G=) | |
2 | g.219419003G>T | CA350687002 | DES | c.541G>T (p.Asp181Tyr) c.495+46G>T (n.495+46G>T) | gnomAD v4 |
2 | g.219419004A>C | CA350687007 | DES | c.542A>C (p.Asp181Ala) c.495+47A>C (n.495+47A>C) | |
2 | g.219419004A>G | CA350687009 | DES | c.542A>G (p.Asp181Gly) c.495+47A>G (n.495+47A>G) | |
2 | g.219419004A>T | CA350687012 | DES | c.542A>T (p.Asp181Val) c.495+47A>T (n.495+47A>T) | |
2 | g.219419004_219419012del | CA2580065797 | DES | c.542_550del (p.Asp181_Leu184delinsVal) c.495+47_495+55del (n.495+47_495+55del) | ClinVar |
2 | g.219419005C>A | CA350687017 | DES | c.543C>A (p.Asp181Glu) c.495+48C>A (n.495+48C>A) | gnomAD v4 |
2 | g.219419005C= | CA1329210148 | DES | c.543C= (p.Asp181=) c.495+48C= (n.495+48C=) | |
2 | g.219419005C>G | CA350687020 | DES | c.543C>G (p.Asp181Glu) c.495+48C>G (n.495+48C>G) | ClinVar gnomAD v4 |
2 | g.219419005C>T | CA431427950 | DES | c.543C>T (p.Asp181=) c.495+48C>T (n.495+48C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.219419006A= | CA1329210149 | DES | c.544A= (p.Asn182=) c.495+49A= (n.495+49A=) | |
2 | g.219419006A>C | CA350687027 | DES | c.544A>C (p.Asn182His) c.495+49A>C (n.495+49A>C) | dbSNP gnomAD v4 |
2 | g.219419006A>G | CA350687030 | DES | c.544A>G (p.Asn182Asp) c.495+49A>G (n.495+49A>G) | |
2 | g.219419006A>T | CA350687024 | DES | c.544A>T (p.Asn182Tyr) c.495+49A>T (n.495+49A>T) | |
2 | g.219419007A= | CA1329210150 | DES | c.545A= (p.Asn182=) c.495+50A= (n.495+50A=) | |
2 | g.219419007A>C | CA350687038 | DES | c.545A>C (p.Asn182Thr) c.495+50A>C (n.495+50A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219419007A>G | CA350687032 | DES | c.545A>G (p.Asn182Ser) c.495+50A>G (n.495+50A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219419007A>T | CA350687035 | DES | c.545A>T (p.Asn182Ile) c.495+50A>T (n.495+50A>T) | |
2 | g.219419008C>A | CA350687042 | DES | c.546C>A (p.Asn182Lys) c.495+51C>A (n.495+51C>A) | gnomAD v4 |
2 | g.219419008C= | CA1329210151 | DES | c.546C= (p.Asn182=) c.495+51C= (n.495+51C=) | |
2 | g.219419008C>G | CA350687045 | DES | c.546C>G (p.Asn182Lys) c.495+51C>G (n.495+51C>G) | dbSNP gnomAD v4 |
2 | g.219419008C>T | CA431427951 | DES | c.546C>T (p.Asn182=) c.495+51C>T (n.495+51C>T) | gnomAD v4 |
2 | g.219419009del | CA2663250458 | DES | c.547del (p.Leu183CysfsTer18) c.495+52del (n.495+52del) | gnomAD v4 |
2 | g.219419009C>A | CA350687049 | DES | c.547C>A (p.Leu183Met) c.495+52C>A (n.495+52C>A) | gnomAD v4 |
2 | g.219419009C>G | CA350687050 | DES | c.547C>G (p.Leu183Val) c.495+52C>G (n.495+52C>G) | |
2 | g.219419009C>T | CA431427952 | DES | c.547C>T (p.Leu183=) c.495+52C>T (n.495+52C>T) | gnomAD v4 |
2 | g.219419010T>A | CA350687054 | DES | c.548T>A (p.Leu183Gln) c.495+53T>A (n.495+53T>A) | |
2 | g.219419010T>C | CA350687057 | DES | c.548T>C (p.Leu183Pro) c.495+53T>C (n.495+53T>C) | gnomAD v4 |
2 | g.219419010T>G | CA350687059 | DES | c.548T>G (p.Leu183Arg) c.495+53T>G (n.495+53T>G) | |
2 | g.219419011G>A | CA431284037 | DES | c.549G>A (p.Leu183=) c.495+54G>A (n.495+54G>A) | |
2 | g.219419011G>C | CA431284036 | DES | c.549G>C (p.Leu183=) c.495+54G>C (n.495+54G>C) | |
2 | g.219419011G>T | CA431284035 | DES | c.549G>T (p.Leu183=) c.495+54G>T (n.495+54G>T) | gnomAD v4 |
2 | g.219419011_219419026del | CA2740096473 | DES | c.549_564del (p.Leu184GlyfsTer12) c.495+54_495+69del (n.495+54_495+69del) | ClinVar |
2 | g.219419012C>A | CA350687062 | DES | c.550C>A (p.Leu184Ile) c.495+55C>A (n.495+55C>A) | gnomAD v4 |
2 | g.219419012C= | CA1329210152 | DES | c.550C= (p.Leu184=) c.495+55C= (n.495+55C=) | |
2 | g.219419012C>G | CA350687068 | DES | c.550C>G (p.Leu184Val) c.495+55C>G (n.495+55C>G) | |
2 | g.219419012C>T | CA350687071 | DES | c.550C>T (p.Leu184Phe) c.495+55C>T (n.495+55C>T) | dbSNP |
2 | g.219419013T>A | CA350687076 | DES | c.551T>A (p.Leu184His) c.495+56T>A (n.495+56T>A) | |
2 | g.219419013T>C | CA350687078 | DES | c.551T>C (p.Leu184Pro) c.495+56T>C (n.495+56T>C) | |
2 | g.219419013T>G | CA350687075 | DES | c.551T>G (p.Leu184Arg) c.495+56T>G (n.495+56T>G) | |
2 | g.219419014C>A | CA431284039 | DES | c.552C>A (p.Leu184=) c.495+57C>A (n.495+57C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219419014C= | CA1329210153 | DES | c.552C= (p.Leu184=) c.495+57C= (n.495+57C=) | |
2 | g.219419014C>G | CA431284038 | DES | c.552C>G (p.Leu184=) c.495+57C>G (n.495+57C>G) | ClinVar dbSNP |
2 | g.219419014C>T | CA65981348 | DES | c.552C>T (p.Leu184=) c.495+57C>T (n.495+57C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |