Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47286297C>A | CA400023443 | ITGB3 | c.652C>A (p.His218Asn) c.617C>A | |
17 | g.47286297C>G | CA400023444 | ITGB3 | c.652C>G (p.His218Asp) c.617C>G | |
17 | g.47286297C>T | CA400023445 | ITGB3 | c.652C>T (p.His218Tyr) c.617C>T | ClinVar dbSNP |
17 | g.47286298A>C | CA400023447 | ITGB3 | c.653A>C (p.His218Pro) c.618A>C | |
17 | g.47286298A>G | CA400023448 | ITGB3 | c.653A>G (p.His218Arg) c.618A>G | gnomAD v4 |
17 | g.47286298A>T | CA400023446 | ITGB3 | c.653A>T (p.His218Leu) c.618A>T | |
17 | g.47286299C>A | CA400023450 | ITGB3 | c.654C>A (p.His218Gln) c.619C>A | |
17 | g.47286299C= | CA2262605986 | ITGB3 | c.654C= (p.His218=) c.619C= | |
17 | g.47286299C>G | CA400023449 | ITGB3 | c.654C>G (p.His218Gln) c.619C>G | |
17 | g.47286299C>T | CA8623015 | ITGB3 | c.654C>T (p.His218=) c.619C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286300G>A | CA8623016 | ITGB3 | c.655G>A (p.Val219Met) c.620G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286300G>C | CA400023452 | ITGB3 | c.655G>C (p.Val219Leu) c.620G>C | gnomAD v4 |
17 | g.47286300G= | CA2262605987 | ITGB3 | c.655G= (p.Val219=) c.620G= | |
17 | g.47286300G>T | CA400023451 | ITGB3 | c.655G>T (p.Val219Leu) c.620G>T | gnomAD v4 |
17 | g.47286301T>A | CA400023453 | ITGB3 | c.656T>A (p.Val219Glu) c.621T>A | |
17 | g.47286301T>C | CA400023455 | ITGB3 | c.656T>C (p.Val219Ala) c.621T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286301T>G | CA400023454 | ITGB3 | c.656T>G (p.Val219Gly) c.621T>G | |
17 | g.47286301T= | CA2262605988 | ITGB3 | c.656T= (p.Val219=) c.621T= | |
17 | g.47286302G>A | CA500431972 | ITGB3 | c.657G>A (p.Val219=) c.622G>A | |
17 | g.47286302G>C | CA500431971 | ITGB3 | c.657G>C (p.Val219=) c.622G>C | gnomAD v4 |
17 | g.47286302G>T | CA500431970 | ITGB3 | c.657G>T (p.Val219=) c.622G>T | |
17 | g.47286303C>A | CA400023456 | ITGB3 | c.658C>A (p.Leu220Met) c.623C>A | |
17 | g.47286303C>G | CA400023457 | ITGB3 | c.658C>G (p.Leu220Val) c.623C>G | |
17 | g.47286303C>T | CA500431973 | ITGB3 | c.658C>T (p.Leu220=) c.623C>T | |
17 | g.47286304T>A | CA400023458 | ITGB3 | c.659T>A (p.Leu220Gln) c.624T>A | gnomAD v4 |
17 | g.47286304T>C | CA400023459 | ITGB3 | c.659T>C (p.Leu220Pro) c.624T>C | |
17 | g.47286304T>G | CA400023460 | ITGB3 | c.659T>G (p.Leu220Arg) c.624T>G | |
17 | g.47286305G>A | CA500431975 | ITGB3 | c.660G>A (p.Leu220=) c.625G>A | |
17 | g.47286305G>C | CA500431974 | ITGB3 | c.660G>C (p.Leu220=) c.625G>C | |
17 | g.47286305G>T | CA500431976 | ITGB3 | c.660G>T (p.Leu220=) c.625G>T | |
17 | g.47286306A>C | CA400023461 | ITGB3 | c.661A>C (p.Thr221Pro) c.626A>C | |
17 | g.47286306A>G | CA400023462 | ITGB3 | c.661A>G (p.Thr221Ala) c.626A>G | |
17 | g.47286306A>T | CA400023463 | ITGB3 | c.661A>T (p.Thr221Ser) c.626A>T | |
17 | g.47286307C>A | CA400023464 | ITGB3 | c.662C>A (p.Thr221Lys) c.627C>A | |
17 | g.47286307C= | CA2262605989 | ITGB3 | c.662C= (p.Thr221=) c.627C= | |
17 | g.47286307C>G | CA400023465 | ITGB3 | c.662C>G (p.Thr221Arg) c.627C>G | gnomAD v4 |
17 | g.47286307C>T | CA8623017 | ITGB3 | c.662C>T (p.Thr221Met) c.627C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286308G>A | CA8623018 | ITGB3 | c.663G>A (p.Thr221=) c.628G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286308G>C | CA500431977 | ITGB3 | c.663G>C (p.Thr221=) c.628G>C | |
17 | g.47286308G= | CA2262605990 | ITGB3 | c.663G= (p.Thr221=) c.628G= | |
17 | g.47286308G>T | CA500431978 | ITGB3 | c.663G>T (p.Thr221=) c.628G>T | |
17 | g.47286308_47286312delinsGCTAA | CA2262605991 | ITGB3 | c.663_667delinsGCTAA (p.Thr221=) c.628_632delinsGCTAA | |
17 | g.47286309C>A | CA400023466 | ITGB3 | c.664C>A (p.Leu222Ile) c.629C>A | |
17 | g.47286309C>G | CA400023467 | ITGB3 | c.664C>G (p.Leu222Val) c.629C>G | |
17 | g.47286309C>T | CA500431979 | ITGB3 | c.664C>T (p.Leu222=) c.629C>T | |
17 | g.47286311_47286314del | CA772537044 | ITGB3 | c.666_669del (p.Asp224ArgfsTer2) c.631_634del | dbSNP |
17 | g.47286310T>A | CA400023468 | ITGB3 | c.665T>A (p.Leu222Gln) c.630T>A | |
17 | g.47286310T>C | CA291224887 | ITGB3 | c.665T>C (p.Leu222Pro) c.630T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286310T>G | CA400023469 | ITGB3 | c.665T>G (p.Leu222Arg) c.630T>G | |
17 | g.47286310T= | CA2262605992 | ITGB3 | c.665T= (p.Leu222=) c.630T= | |
17 | g.47286311A>C | CA500431981 | ITGB3 | c.666A>C (p.Leu222=) c.631A>C | |
17 | g.47286311A>G | CA500431982 | ITGB3 | c.666A>G (p.Leu222=) c.631A>G | |
17 | g.47286311A>T | CA500431980 | ITGB3 | c.666A>T (p.Leu222=) c.631A>T | dbSNP |
17 | g.47286312A>C | CA400023470 | ITGB3 | c.667A>C (p.Thr223Pro) c.632A>C | |
17 | g.47286312A>G | CA400023471 | ITGB3 | c.667A>G (p.Thr223Ala) c.632A>G | |
17 | g.47286312A>T | CA400023472 | ITGB3 | c.667A>T (p.Thr223Ser) c.632A>T | |
17 | g.47286313C>A | CA400023473 | ITGB3 | c.668C>A (p.Thr223Asn) c.633C>A | |
17 | g.47286313C>G | CA400023474 | ITGB3 | c.668C>G (p.Thr223Ser) c.633C>G | |
17 | g.47286313C>T | CA400023475 | ITGB3 | c.668C>T (p.Thr223Ile) c.633C>T | |
17 | g.47286314T>A | CA500431985 | ITGB3 | c.669T>A (p.Thr223=) c.634T>A | |
17 | g.47286314T>C | CA500431984 | ITGB3 | c.669T>C (p.Thr223=) c.634T>C | |
17 | g.47286314T>G | CA500431983 | ITGB3 | c.669T>G (p.Thr223=) c.634T>G | dbSNP |
17 | g.47286315G>A | CA8623019 | ITGB3 | c.670G>A (p.Asp224Asn) c.635G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286315G>C | CA400023476 | ITGB3 | c.670G>C (p.Asp224His) c.635G>C | |
17 | g.47286315G= | CA2262605993 | ITGB3 | c.670G= (p.Asp224=) c.635G= | |
17 | g.47286315G>T | CA400023477 | ITGB3 | c.670G>T (p.Asp224Tyr) c.635G>T | |
17 | g.47286316A>C | CA400023479 | ITGB3 | c.671A>C (p.Asp224Ala) c.636A>C | |
17 | g.47286316A>G | CA400023480 | ITGB3 | c.671A>G (p.Asp224Gly) c.636A>G | gnomAD v4 |
17 | g.47286316A>T | CA400023478 | ITGB3 | c.671A>T (p.Asp224Val) c.636A>T | gnomAD v4 |
17 | g.47286317C>A | CA400023481 | ITGB3 | c.672C>A (p.Asp224Glu) c.637C>A | |
17 | g.47286317C= | CA2262605994 | ITGB3 | c.672C= (p.Asp224=) c.637C= | |
17 | g.47286317C>G | CA400023482 | ITGB3 | c.672C>G (p.Asp224Glu) c.637C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286317C>T | CA8623020 | ITGB3 | c.672C>T (p.Asp224=) c.637C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286318C>A | CA400023483 | ITGB3 | c.673C>A (p.Gln225Lys) c.638C>A | |
17 | g.47286318C>G | CA400023484 | ITGB3 | c.673C>G (p.Gln225Glu) c.638C>G | |
17 | g.47286318C>T | CA400023485 | ITGB3 | c.673C>T (p.Gln225Ter) c.638C>T | |
17 | g.47286319del | CA915940689 | ITGB3 | c.674del (p.Gln225ArgfsTer2) c.639del | ClinVar dbSNP |
17 | g.47286319A= | CA2262605995 | ITGB3 | c.674A= (p.Gln225=) c.639A= | |
17 | g.47286319A>C | CA400023486 | ITGB3 | c.674A>C (p.Gln225Pro) c.639A>C | |
17 | g.47286319A>G | CA8623021 | ITGB3 | c.674A>G (p.Gln225Arg) c.639A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286319A>T | CA400023487 | ITGB3 | c.674A>T (p.Gln225Leu) c.639A>T | |
17 | g.47286320G>A | CA500431986 | ITGB3 | c.675G>A (p.Gln225=) c.640G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286320G>C | CA400023488 | ITGB3 | c.675G>C (p.Gln225His) c.640G>C | gnomAD v4 |
17 | g.47286320G= | CA2262605996 | ITGB3 | c.675G= (p.Gln225=) c.640G= | |
17 | g.47286320G>T | CA400023489 | ITGB3 | c.675G>T (p.Gln225His) c.640G>T | |
17 | g.47286321G>A | CA400023491 | ITGB3 | c.676G>A (p.Val226Met) c.641G>A | |
17 | g.47286321G>C | CA400023492 | ITGB3 | c.676G>C (p.Val226Leu) c.641G>C | |
17 | g.47286321G>T | CA400023490 | ITGB3 | c.676G>T (p.Val226Leu) c.641G>T | |
17 | g.47286322T>A | CA400023493 | ITGB3 | c.677T>A (p.Val226Glu) c.642T>A | |
17 | g.47286322T>C | CA400023494 | ITGB3 | c.677T>C (p.Val226Ala) c.642T>C | |
17 | g.47286322T>G | CA400023495 | ITGB3 | c.677T>G (p.Val226Gly) c.642T>G | |
17 | g.47286323G>A | CA8623022 | ITGB3 | c.678G>A (p.Val226=) c.643G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286323G>C | CA500431988 | ITGB3 | c.678G>C (p.Val226=) c.643G>C | |
17 | g.47286323G= | CA2262605997 | ITGB3 | c.678G= (p.Val226=) c.643G= | |
17 | g.47286323G>T | CA500431989 | ITGB3 | c.678G>T (p.Val226=) c.643G>T | |
17 | g.47286324A>C | CA400023498 | ITGB3 | c.679A>C (p.Thr227Pro) c.644A>C | |
17 | g.47286324A>G | CA400023497 | ITGB3 | c.679A>G (p.Thr227Ala) c.644A>G | |
17 | g.47286324A>T | CA400023496 | ITGB3 | c.679A>T (p.Thr227Ser) c.644A>T | |
17 | g.47286325C>A | CA400023499 | ITGB3 | c.680C>A (p.Thr227Asn) c.645C>A | |
17 | g.47286325C>G | CA400023500 | ITGB3 | c.680C>G (p.Thr227Ser) c.645C>G | |
17 | g.47286325C>T | CA400023501 | ITGB3 | c.680C>T (p.Thr227Ile) c.645C>T | |
17 | g.47286326C>A | CA500431991 | ITGB3 | c.681C>A (p.Thr227=) c.646C>A | |
17 | g.47286326C= | CA2262605998 | ITGB3 | c.681C= (p.Thr227=) c.646C= | |
17 | g.47286326C>G | CA500431992 | ITGB3 | c.681C>G (p.Thr227=) c.646C>G | |
17 | g.47286326C>T | CA500431990 | ITGB3 | c.681C>T (p.Thr227=) c.646C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286327C>A | CA400023502 | ITGB3 | c.682C>A (p.Arg228Ser) c.647C>A | gnomAD v4 |
17 | g.47286327C= | CA2262605999 | ITGB3 | c.682C= (p.Arg228=) c.647C= | |
17 | g.47286327C>G | CA8623023 | ITGB3 | c.682C>G (p.Arg228Gly) c.647C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286327C>T | CA8623024 | ITGB3 | c.682C>T (p.Arg228Cys) c.647C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286328G>A | CA8623025 | ITGB3 | c.683G>A (p.Arg228His) c.648G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286328G>C | CA400023504 | ITGB3 | c.683G>C (p.Arg228Pro) c.648G>C | |
17 | g.47286328G= | CA2262606000 | ITGB3 | c.683G= (p.Arg228=) c.648G= | |
17 | g.47286328G>T | CA400023503 | ITGB3 | c.683G>T (p.Arg228Leu) c.648G>T | dbSNP |
17 | g.47286329C>A | CA500431994 | ITGB3 | c.684C>A (p.Arg228=) c.649C>A | |
17 | g.47286329C= | CA2262606001 | ITGB3 | c.684C= (p.Arg228=) c.649C= | |
17 | g.47286329C>G | CA500431993 | ITGB3 | c.684C>G (p.Arg228=) c.649C>G | |
17 | g.47286329C>T | CA8623026 | ITGB3 | c.684C>T (p.Arg228=) c.649C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286330T>A | CA400023507 | ITGB3 | c.685T>A (p.Phe229Ile) c.650T>A | |
17 | g.47286330T>C | CA400023505 | ITGB3 | c.685T>C (p.Phe229Leu) c.650T>C | gnomAD v4 |
17 | g.47286330T>G | CA400023506 | ITGB3 | c.685T>G (p.Phe229Val) c.650T>G | |
17 | g.47286331T>A | CA400023508 | ITGB3 | c.686T>A (p.Phe229Tyr) c.651T>A | |
17 | g.47286331T>C | CA400023509 | ITGB3 | c.686T>C (p.Phe229Ser) c.651T>C | |
17 | g.47286331T>G | CA400023510 | ITGB3 | c.686T>G (p.Phe229Cys) c.651T>G | |
17 | g.47286332C>A | CA400023511 | ITGB3 | c.687C>A (p.Phe229Leu) c.652C>A | |
17 | g.47286332C>G | CA400023512 | ITGB3 | c.687C>G (p.Phe229Leu) c.652C>G | |
17 | g.47286332C>T | CA500431996 | ITGB3 | c.687C>T (p.Phe229=) c.652C>T | |
17 | g.47286333A>C | CA400023513 | ITGB3 | c.688A>C (p.Asn230His) c.653A>C | |
17 | g.47286333A>G | CA400023514 | ITGB3 | c.688A>G (p.Asn230Asp) c.653A>G | |
17 | g.47286333A>T | CA400023515 | ITGB3 | c.688A>T (p.Asn230Tyr) c.653A>T | |
17 | g.47286334A= | CA2262606002 | ITGB3 | c.689A= (p.Asn230=) c.654A= | |
17 | g.47286334A>C | CA400023516 | ITGB3 | c.689A>C (p.Asn230Thr) c.654A>C | |
17 | g.47286334A>G | CA8623027 | ITGB3 | c.689A>G (p.Asn230Ser) c.654A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286334A>T | CA400023517 | ITGB3 | c.689A>T (p.Asn230Ile) c.654A>T | |
17 | g.47286335T>A | CA400023518 | ITGB3 | c.690T>A (p.Asn230Lys) c.655T>A | |
17 | g.47286335T>C | CA500431997 | ITGB3 | c.690T>C (p.Asn230=) c.655T>C | ClinVar |
17 | g.47286335T>G | CA400023519 | ITGB3 | c.690T>G (p.Asn230Lys) c.655T>G | |
17 | g.47286336G>A | CA400023520 | ITGB3 | c.691G>A (p.Glu231Lys) c.656G>A | |
17 | g.47286336G>C | CA400023521 | ITGB3 | c.691G>C (p.Glu231Gln) c.656G>C | |
17 | g.47286336G>T | CA400023522 | ITGB3 | c.691G>T (p.Glu231Ter) c.656G>T | |
17 | g.47286337A>C | CA400023523 | ITGB3 | c.692A>C (p.Glu231Ala) c.657A>C | |
17 | g.47286337A>G | CA400023524 | ITGB3 | c.692A>G (p.Glu231Gly) c.657A>G | |
17 | g.47286337A>T | CA400023525 | ITGB3 | c.692A>T (p.Glu231Val) c.657A>T | |
17 | g.47286338G>A | CA500431998 | ITGB3 | c.693G>A (p.Glu231=) c.658G>A | |
17 | g.47286338G>C | CA400023526 | ITGB3 | c.693G>C (p.Glu231Asp) c.658G>C | |
17 | g.47286338G>T | CA400023527 | ITGB3 | c.693G>T (p.Glu231Asp) c.658G>T | |
17 | g.47286339G>A | CA400023528 | ITGB3 | c.694G>A (p.Glu232Lys) c.659G>A | |
17 | g.47286339G>C | CA400023529 | ITGB3 | c.694G>C (p.Glu232Gln) c.659G>C | |
17 | g.47286339G>T | CA400023530 | ITGB3 | c.694G>T (p.Glu232Ter) c.659G>T | ClinVar COSMIC |
17 | g.47286340A= | CA2262606003 | ITGB3 | c.695A= (p.Glu232=) c.660A= | |
17 | g.47286340A>C | CA400023533 | ITGB3 | c.695A>C (p.Glu232Ala) c.660A>C | |
17 | g.47286340A>G | CA400023532 | ITGB3 | c.695A>G (p.Glu232Gly) c.660A>G | dbSNP gnomAD v2 |
17 | g.47286340A>T | CA400023531 | ITGB3 | c.695A>T (p.Glu232Val) c.660A>T | |
17 | g.47286341A>C | CA400023534 | ITGB3 | c.696A>C (p.Glu232Asp) c.661A>C | |
17 | g.47286341A>G | CA500431999 | ITGB3 | c.696A>G (p.Glu232=) c.661A>G | |
17 | g.47286341A>T | CA400023535 | ITGB3 | c.696A>T (p.Glu232Asp) c.661A>T | |
17 | g.47286342G>A | CA400023536 | ITGB3 | c.697G>A (p.Val233Met) c.662G>A | gnomAD v4 |
17 | g.47286342G>C | CA400023537 | ITGB3 | c.697G>C (p.Val233Leu) c.662G>C | |
17 | g.47286342G>T | CA400023538 | ITGB3 | c.697G>T (p.Val233Leu) c.662G>T | |
17 | g.47286343T>A | CA400023539 | ITGB3 | c.698T>A (p.Val233Glu) c.663T>A | |
17 | g.47286343T>C | CA400023540 | ITGB3 | c.698T>C (p.Val233Ala) c.663T>C | |
17 | g.47286343T>G | CA400023541 | ITGB3 | c.698T>G (p.Val233Gly) c.663T>G | |
17 | g.47286344G>A | CA500432000 | ITGB3 | c.699G>A (p.Val233=) c.664G>A | dbSNP gnomAD v2 |
17 | g.47286344G>C | CA500432001 | ITGB3 | c.699G>C (p.Val233=) c.664G>C | |
17 | g.47286344G= | CA2262606004 | ITGB3 | c.699G= (p.Val233=) c.664G= | |
17 | g.47286344G>T | CA500432002 | ITGB3 | c.699G>T (p.Val233=) c.664G>T | |
17 | g.47286345A>C | CA400023542 | ITGB3 | c.700A>C (p.Lys234Gln) c.665A>C | |
17 | g.47286345A>G | CA400023543 | ITGB3 | c.700A>G (p.Lys234Glu) c.665A>G | |
17 | g.47286345A>T | CA400023544 | ITGB3 | c.700A>T (p.Lys234Ter) c.665A>T | COSMIC COSMIC |
17 | g.47286346A>C | CA400023545 | ITGB3 | c.701A>C (p.Lys234Thr) c.666A>C | |
17 | g.47286346A>G | CA400023546 | ITGB3 | c.701A>G (p.Lys234Arg) c.666A>G | |
17 | g.47286346A>T | CA400023547 | ITGB3 | c.701A>T (p.Lys234Met) c.666A>T | |
17 | g.47286347G>A | CA500432003 | ITGB3 | c.702G>A (p.Lys234=) c.667G>A | |
17 | g.47286347G>C | CA400023548 | ITGB3 | c.702G>C (p.Lys234Asn) c.667G>C | COSMIC COSMIC COSMIC |
17 | g.47286347G>T | CA400023549 | ITGB3 | c.702G>T (p.Lys234Asn) c.667G>T | |
17 | g.47286348A= | CA2262606005 | ITGB3 | c.703A= (p.Lys235=) c.668A= | |
17 | g.47286348A>C | CA400023550 | ITGB3 | c.703A>C (p.Lys235Gln) c.668A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286348A>G | CA400023551 | ITGB3 | c.703A>G (p.Lys235Glu) c.668A>G | ClinVar |
17 | g.47286348A>T | CA400023552 | ITGB3 | c.703A>T (p.Lys235Ter) c.668A>T | |
17 | g.47286349A= | CA2262606006 | ITGB3 | c.704A= (p.Lys235=) c.669A= | |
17 | g.47286349A>C | CA400023553 | ITGB3 | c.704A>C (p.Lys235Thr) c.669A>C | |
17 | g.47286349A>G | CA8623028 | ITGB3 | c.704A>G (p.Lys235Arg) c.669A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286349A>T | CA400023554 | ITGB3 | c.704A>T (p.Lys235Met) c.669A>T | |
17 | g.47286350G>A | CA500432005 | ITGB3 | c.705G>A (p.Lys235=) c.670G>A | |
17 | g.47286350G>C | CA400023555 | ITGB3 | c.705G>C (p.Lys235Asn) c.670G>C | |
17 | g.47286350G>T | CA400023556 | ITGB3 | c.705G>T (p.Lys235Asn) c.670G>T | |
17 | g.47286351C>A | CA400023557 | ITGB3 | c.706C>A (p.Gln236Lys) c.671C>A | |
17 | g.47286351C>G | CA400023558 | ITGB3 | c.706C>G (p.Gln236Glu) c.671C>G | |
17 | g.47286351C>T | CA400023559 | ITGB3 | c.706C>T (p.Gln236Ter) c.671C>T | |
17 | g.47286351_47286353delinsCAG | CA2262606007 | ITGB3 | c.706_708delinsCAG (p.Gln236=) c.671_673delinsCAG | |
17 | g.47286352A>C | CA400023561 | ITGB3 | c.707A>C (p.Gln236Pro) c.672A>C | |
17 | g.47286352A>G | CA400023562 | ITGB3 | c.707A>G (p.Gln236Arg) c.672A>G | |
17 | g.47286352A>T | CA400023560 | ITGB3 | c.707A>T (p.Gln236Leu) c.672A>T | |
17 | g.47286354_47286355del | CA8623029 | ITGB3 | c.709_710del (p.Ser237CysfsTer13) c.674_675del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286353G>A | CA291224893 | ITGB3 | c.708G>A (p.Gln236=) c.673G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286353G>C | CA400023563 | ITGB3 | c.708G>C (p.Gln236His) c.673G>C | |
17 | g.47286353G= | CA2262606008 | ITGB3 | c.708G= (p.Gln236=) c.673G= | |
17 | g.47286353G>T | CA400023564 | ITGB3 | c.708G>T (p.Gln236His) c.673G>T | |
17 | g.47286354A>C | CA400023565 | ITGB3 | c.709A>C (p.Ser237Arg) c.674A>C | |
17 | g.47286354A>G | CA400023566 | ITGB3 | c.709A>G (p.Ser237Gly) c.674A>G | |
17 | g.47286354A>T | CA400023567 | ITGB3 | c.709A>T (p.Ser237Cys) c.674A>T | |
17 | g.47286355G>A | CA400023568 | ITGB3 | c.710G>A (p.Ser237Asn) c.675G>A | gnomAD v4 |
17 | g.47286355G>C | CA400023569 | ITGB3 | c.710G>C (p.Ser237Thr) c.675G>C | |
17 | g.47286355G>T | CA400023570 | ITGB3 | c.710G>T (p.Ser237Ile) c.675G>T | |
17 | g.47286356T>A | CA400023571 | ITGB3 | c.711T>A (p.Ser237Arg) c.676T>A | dbSNP gnomAD v2 |
17 | g.47286356T>C | CA500432006 | ITGB3 | c.711T>C (p.Ser237=) c.676T>C | gnomAD v4 |
17 | g.47286356T>G | CA8623030 | ITGB3 | c.711T>G (p.Ser237Arg) c.676T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286356T= | CA2262606009 | ITGB3 | c.711T= (p.Ser237=) c.676T= | |
17 | g.47286357G>A | CA400023572 | ITGB3 | c.712G>A (p.Val238Met) c.677G>A | |
17 | g.47286357G>C | CA400023573 | ITGB3 | c.712G>C (p.Val238Leu) c.677G>C | |
17 | g.47286357G>T | CA400023574 | ITGB3 | c.712G>T (p.Val238Leu) c.677G>T | |
17 | g.47286358T>A | CA400023577 | ITGB3 | c.713T>A (p.Val238Glu) c.678T>A | |
17 | g.47286358T>C | CA400023576 | ITGB3 | c.713T>C (p.Val238Ala) c.678T>C | |
17 | g.47286358T>G | CA400023575 | ITGB3 | c.713T>G (p.Val238Gly) c.678T>G | |
17 | g.47286359G>A | CA500432009 | ITGB3 | c.714G>A (p.Val238=) c.679G>A | gnomAD v4 |
17 | g.47286359G>C | CA500432007 | ITGB3 | c.714G>C (p.Val238=) c.679G>C | |
17 | g.47286359G>T | CA500432008 | ITGB3 | c.714G>T (p.Val238=) c.679G>T | |
17 | g.47286360T>A | CA400023578 | ITGB3 | c.715T>A (p.Ser239Thr) c.680T>A | |
17 | g.47286360T>C | CA400023579 | ITGB3 | c.715T>C (p.Ser239Pro) c.680T>C | |
17 | g.47286360T>G | CA400023580 | ITGB3 | c.715T>G (p.Ser239Ala) c.680T>G | |
17 | g.47286361C>A | CA400023581 | ITGB3 | c.716C>A (p.Ser239Ter) c.681C>A | |
17 | g.47286361C>G | CA400023582 | ITGB3 | c.716C>G (p.Ser239Ter) c.681C>G | |
17 | g.47286361C>T | CA400023583 | ITGB3 | c.716C>T (p.Ser239Leu) c.681C>T | |
17 | g.47286362del | CA2638435537 | ITGB3 | c.717del (p.Arg240GlyfsTer?) c.682del | gnomAD v4 |
17 | g.47286362A>C | CA500432011 | ITGB3 | c.717A>C (p.Ser239=) c.682A>C | |
17 | g.47286362A>G | CA500432010 | ITGB3 | c.717A>G (p.Ser239=) c.682A>G | |
17 | g.47286362A>T | CA500432012 | ITGB3 | c.717A>T (p.Ser239=) c.682A>T | |
17 | g.47286363C>A | CA500432013 | ITGB3 | c.718C>A (p.Arg240=) c.683C>A | |
17 | g.47286363C= | CA2262606010 | ITGB3 | c.718C= (p.Arg240=) c.683C= | |
17 | g.47286363C>G | CA400023584 | ITGB3 | c.718C>G (p.Arg240Gly) c.683C>G | |
17 | g.47286363C>T | CA123228 | ITGB3 | c.718C>T (p.Arg240Trp) c.683C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286364G>A | CA123224 | ITGB3 | c.719G>A (p.Arg240Gln) c.684G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286364G>C | CA400023585 | ITGB3 | c.719G>C (p.Arg240Pro) c.684G>C | |
17 | g.47286364G= | CA2262606011 | ITGB3 | c.719G= (p.Arg240=) c.684G= | |
17 | g.47286364G>T | CA400023586 | ITGB3 | c.719G>T (p.Arg240Leu) c.684G>T | |
17 | g.47286365G>A | CA500432014 | ITGB3 | c.720G>A (p.Arg240=) c.685G>A | gnomAD v4 |
17 | g.47286365G>C | CA500432016 | ITGB3 | c.720G>C (p.Arg240=) c.685G>C | |
17 | g.47286365G>T | CA500432015 | ITGB3 | c.720G>T (p.Arg240=) c.685G>T | |
17 | g.47286366A>C | CA400023587 | ITGB3 | c.721A>C (p.Asn241His) c.686A>C | |
17 | g.47286366A>G | CA400023588 | ITGB3 | c.721A>G (p.Asn241Asp) c.686A>G | |
17 | g.47286366A>T | CA400023589 | ITGB3 | c.721A>T (p.Asn241Tyr) c.686A>T | |
17 | g.47286367A>C | CA400023591 | ITGB3 | c.722A>C (p.Asn241Thr) c.687A>C | |
17 | g.47286367A>G | CA400023592 | ITGB3 | c.722A>G (p.Asn241Ser) c.687A>G | |
17 | g.47286367A>T | CA400023590 | ITGB3 | c.722A>T (p.Asn241Ile) c.687A>T | |
17 | g.47286368C>A | CA400023593 | ITGB3 | c.723C>A (p.Asn241Lys) c.688C>A | |
17 | g.47286368C>G | CA400023594 | ITGB3 | c.723C>G (p.Asn241Lys) c.688C>G | |
17 | g.47286368C>T | CA500432017 | ITGB3 | c.723C>T (p.Asn241=) c.688C>T | ClinVar gnomAD v4 |
17 | g.47286369C>A | CA8623031 | ITGB3 | c.724C>A (p.Arg242=) c.689C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286369C= | CA2262606012 | ITGB3 | c.724C= (p.Arg242=) c.689C= | |
17 | g.47286369C>G | CA400023595 | ITGB3 | c.724C>G (p.Arg242Gly) c.689C>G | |
17 | g.47286369C>T | CA400023596 | ITGB3 | c.724C>T (p.Arg242Ter) c.689C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286370G>A | CA291224896 | ITGB3 | c.725G>A (p.Arg242Gln) c.690G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286370G>C | CA400023597 | ITGB3 | c.725G>C (p.Arg242Pro) c.690G>C | |
17 | g.47286370G= | CA2262606013 | ITGB3 | c.725G= (p.Arg242=) c.690G= | |
17 | g.47286370G>T | CA400023598 | ITGB3 | c.725G>T (p.Arg242Leu) c.690G>T | |
17 | g.47286371A>C | CA500432019 | ITGB3 | c.726A>C (p.Arg242=) c.691A>C | |
17 | g.47286371A>G | CA500432020 | ITGB3 | c.726A>G (p.Arg242=) c.691A>G | |
17 | g.47286371A>T | CA500432018 | ITGB3 | c.726A>T (p.Arg242=) c.691A>T | |
17 | g.47286372G>A | CA400023599 | ITGB3 | c.727G>A (p.Asp243Asn) c.692G>A | |
17 | g.47286372G>C | CA400023600 | ITGB3 | c.727G>C (p.Asp243His) c.692G>C | ClinVar dbSNP gnomAD v4 |
17 | g.47286372G= | CA2262606014 | ITGB3 | c.727G= (p.Asp243=) c.692G= | |
17 | g.47286372G>T | CA400023601 | ITGB3 | c.727G>T (p.Asp243Tyr) c.692G>T | |
17 | g.47286373A>C | CA400023602 | ITGB3 | c.728A>C (p.Asp243Ala) c.693A>C | |
17 | g.47286373A>G | CA400023603 | ITGB3 | c.728A>G (p.Asp243Gly) c.693A>G | gnomAD v4 |
17 | g.47286373A>T | CA400023604 | ITGB3 | c.728A>T (p.Asp243Val) c.693A>T | ClinVar dbSNP |
17 | g.47286374T>A | CA400023605 | ITGB3 | c.729T>A (p.Asp243Glu) c.694T>A | |
17 | g.47286374T>C | CA500432021 | ITGB3 | c.729T>C (p.Asp243=) c.694T>C | gnomAD v4 |
17 | g.47286374T>G | CA400023606 | ITGB3 | c.729T>G (p.Asp243Glu) c.694T>G | |
17 | g.47286375G>A | CA400023607 | ITGB3 | c.730G>A (p.Ala244Thr) c.695G>A | |
17 | g.47286375G>C | CA400023608 | ITGB3 | c.730G>C (p.Ala244Pro) c.695G>C | |
17 | g.47286375G>T | CA400023609 | ITGB3 | c.730G>T (p.Ala244Ser) c.695G>T | |
17 | g.47286376C>A | CA400023610 | ITGB3 | c.731C>A (p.Ala244Asp) c.696C>A | |
17 | g.47286376C>G | CA400023611 | ITGB3 | c.731C>G (p.Ala244Gly) c.696C>G | |
17 | g.47286376C>T | CA400023612 | ITGB3 | c.731C>T (p.Ala244Val) c.696C>T | |
17 | g.47286377C>A | CA500432022 | ITGB3 | c.732C>A (p.Ala244=) c.697C>A | |
17 | g.47286377C= | CA2262606015 | ITGB3 | c.732C= (p.Ala244=) c.697C= | |
17 | g.47286377C>G | CA500432024 | ITGB3 | c.732C>G (p.Ala244=) c.697C>G | |
17 | g.47286377C>T | CA500432023 | ITGB3 | c.732C>T (p.Ala244=) c.697C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286378C>A | CA400023613 | ITGB3 | c.733C>A (p.Pro245Thr) c.698C>A | |
17 | g.47286378C>G | CA400023614 | ITGB3 | c.733C>G (p.Pro245Ala) c.698C>G | |
17 | g.47286378C>T | CA400023615 | ITGB3 | c.733C>T (p.Pro245Ser) c.698C>T | |
17 | g.47286379C>A | CA400023616 | ITGB3 | c.734C>A (p.Pro245Gln) c.699C>A | |
17 | g.47286379C>G | CA400023617 | ITGB3 | c.734C>G (p.Pro245Arg) c.699C>G | |
17 | g.47286379C>T | CA400023618 | ITGB3 | c.734C>T (p.Pro245Leu) c.699C>T | |
17 | g.47286380A>C | CA500432026 | ITGB3 | c.735A>C (p.Pro245=) c.700A>C | |
17 | g.47286380A>G | CA500432027 | ITGB3 | c.735A>G (p.Pro245=) c.700A>G | |
17 | g.47286380A>T | CA500432025 | ITGB3 | c.735A>T (p.Pro245=) c.700A>T | |
17 | g.47286381G>A | CA400023619 | ITGB3 | c.736G>A (p.Glu246Lys) c.701G>A | COSMIC COSMIC COSMIC |
17 | g.47286381G>C | CA400023621 | ITGB3 | c.736G>C (p.Glu246Gln) c.701G>C | |
17 | g.47286381G>T | CA400023620 | ITGB3 | c.736G>T (p.Glu246Ter) c.701G>T | |
17 | g.47286382A>C | CA400023622 | ITGB3 | c.737A>C (p.Glu246Ala) c.702A>C | |
17 | g.47286382A>G | CA400023624 | ITGB3 | c.737A>G (p.Glu246Gly) c.702A>G | |
17 | g.47286382A>T | CA400023623 | ITGB3 | c.737A>T (p.Glu246Val) c.702A>T | |
17 | g.47286383G>A | CA500432028 | ITGB3 | c.738G>A (p.Glu246=) c.703G>A | |
17 | g.47286383G>C | CA400023625 | ITGB3 | c.738G>C (p.Glu246Asp) c.703G>C | |
17 | g.47286383G>T | CA400023626 | ITGB3 | c.738G>T (p.Glu246Asp) c.703G>T | |
17 | g.47286384G>A | CA400023627 | ITGB3 | c.739G>A (p.Gly247Ser) c.704G>A | |
17 | g.47286384G>C | CA400023628 | ITGB3 | c.739G>C (p.Gly247Arg) c.704G>C | |
17 | g.47286384G>T | CA400023629 | ITGB3 | c.739G>T (p.Gly247Cys) c.704G>T | |
17 | g.47286384_47286386delinsGGT | CA2262606016 | ITGB3 | c.739_741delinsGGT (p.Gly247=) c.704_706delinsGGT | |
17 | g.47286385G>A | CA123256 | ITGB3 | c.740G>A (p.Gly247Asp) c.705G>A | ClinVar dbSNP |
17 | g.47286385G>C | CA400023630 | ITGB3 | c.740G>C (p.Gly247Ala) c.705G>C | |
17 | g.47286385G= | CA2262606017 | ITGB3 | c.740G= (p.Gly247=) c.705G= | |
17 | g.47286385G>T | CA400023631 | ITGB3 | c.740G>T (p.Gly247Val) c.705G>T | |
17 | g.47286386_47286387del | CA626684841 | ITGB3 | c.741_742del (p.Gly248LeufsTer2) c.706_707del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286386T>A | CA500432029 | ITGB3 | c.741T>A (p.Gly247=) c.706T>A | |
17 | g.47286386T>C | CA500432030 | ITGB3 | c.741T>C (p.Gly247=) c.706T>C | |
17 | g.47286386T>G | CA500432031 | ITGB3 | c.741T>G (p.Gly247=) c.706T>G | |
17 | g.47286387G>A | CA400023632 | ITGB3 | c.742G>A (p.Gly248Ser) c.707G>A | gnomAD v4 |
17 | g.47286387G>C | CA400023633 | ITGB3 | c.742G>C (p.Gly248Arg) c.707G>C | |
17 | g.47286387G>T | CA400023634 | ITGB3 | c.742G>T (p.Gly248Cys) c.707G>T | |
17 | g.47286388G>A | CA400023637 | ITGB3 | c.743G>A (p.Gly248Asp) c.708G>A | gnomAD v4 |
17 | g.47286388G>C | CA400023636 | ITGB3 | c.743G>C (p.Gly248Ala) c.708G>C | |
17 | g.47286388G>T | CA400023635 | ITGB3 | c.743G>T (p.Gly248Val) c.708G>T | |
17 | g.47286389C>A | CA500432032 | ITGB3 | c.744C>A (p.Gly248=) c.709C>A | |
17 | g.47286389C= | CA2262606018 | ITGB3 | c.744C= (p.Gly248=) c.709C= | |
17 | g.47286389C>G | CA500432033 | ITGB3 | c.744C>G (p.Gly248=) c.709C>G | |
17 | g.47286389C>T | CA8623032 | ITGB3 | c.744C>T (p.Gly248=) c.709C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286389_47286393delinsCTTTG | CA2262606019 | ITGB3 | c.744_748delinsCTTTG (p.Gly248=) c.709_713delinsCTTTG | |
17 | g.47286390T>A | CA400023638 | ITGB3 | c.745T>A (p.Phe249Ile) c.710T>A | |
17 | g.47286390T>C | CA400023639 | ITGB3 | c.745T>C (p.Phe249Leu) c.710T>C | |
17 | g.47286390T>G | CA400023640 | ITGB3 | c.745T>G (p.Phe249Val) c.710T>G | |
17 | g.47286390_47286393del | CA626684842 | ITGB3 | c.745_748del (p.Phe249MetfsTer?) c.710_713del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286391T>A | CA400023641 | ITGB3 | c.746T>A (p.Phe249Tyr) c.711T>A | dbSNP |
17 | g.47286391T>C | CA400023642 | ITGB3 | c.746T>C (p.Phe249Ser) c.711T>C | |
17 | g.47286391T>G | CA400023643 | ITGB3 | c.746T>G (p.Phe249Cys) c.711T>G | |
17 | g.47286391T= | CA2262606020 | ITGB3 | c.746T= (p.Phe249=) c.711T= | |
17 | g.47286392T>A | CA400023644 | ITGB3 | c.747T>A (p.Phe249Leu) c.712T>A | |
17 | g.47286392T>C | CA500432034 | ITGB3 | c.747T>C (p.Phe249=) c.712T>C | |
17 | g.47286392T>G | CA400023645 | ITGB3 | c.747T>G (p.Phe249Leu) c.712T>G | |
17 | g.47286393G>A | CA400023646 | ITGB3 | c.748G>A (p.Asp250Asn) c.713G>A | |
17 | g.47286393G>C | CA400023647 | ITGB3 | c.748G>C (p.Asp250His) c.713G>C | ClinVar |
17 | g.47286393G>T | CA400023648 | ITGB3 | c.748G>T (p.Asp250Tyr) c.713G>T | |
17 | g.47286394A= | CA2262606021 | ITGB3 | c.749A= (p.Asp250=) c.714A= | |
17 | g.47286394A>C | CA400023650 | ITGB3 | c.749A>C (p.Asp250Ala) c.714A>C | |
17 | g.47286394A>G | CA16043530 | ITGB3 | c.749A>G (p.Asp250Gly) c.714A>G | ClinVar dbSNP |
17 | g.47286394A>T | CA400023649 | ITGB3 | c.749A>T (p.Asp250Val) c.714A>T | dbSNP |
17 | g.47286395T>A | CA400023651 | ITGB3 | c.750T>A (p.Asp250Glu) c.715T>A | dbSNP |
17 | g.47286395T>C | CA500432035 | ITGB3 | c.750T>C (p.Asp250=) c.715T>C | gnomAD v4 |
17 | g.47286395T>G | CA400023652 | ITGB3 | c.750T>G (p.Asp250Glu) c.715T>G | gnomAD v4 |
17 | g.47286395T= | CA2262606022 | ITGB3 | c.750T= (p.Asp250=) c.715T= | |
17 | g.47286395_47286397dup | CA2576302256 | ITGB3 | c.750_752dup (p.Ala251_Ile252insAla) c.715_717dup | |
17 | g.47286396G>A | CA400023653 | ITGB3 | c.751G>A (p.Ala251Thr) c.716G>A | |
17 | g.47286396G>C | CA400023654 | ITGB3 | c.751G>C (p.Ala251Pro) c.716G>C | |
17 | g.47286396G= | CA2262606023 | ITGB3 | c.751G= (p.Ala251=) c.716G= | |
17 | g.47286396G>T | CA400023655 | ITGB3 | c.751G>T (p.Ala251Ser) c.716G>T | dbSNP gnomAD v2 |
17 | g.47286396_47286397insTAG | CA626684843 | ITGB3 | c.751_752insTAG (p.Asp250_Ala251insVal) c.716_717insTAG | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286397C>A | CA400023656 | ITGB3 | c.752C>A (p.Ala251Asp) c.717C>A | |
17 | g.47286397C>G | CA400023657 | ITGB3 | c.752C>G (p.Ala251Gly) c.717C>G | |
17 | g.47286397C>T | CA400023658 | ITGB3 | c.752C>T (p.Ala251Val) c.717C>T |