Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202530913C>A | CA350341527 | BMPR2 | c.1087C>A (p.Leu363Met) c.1018C>A (p.Leu340Met) | |
2 | g.202530913C= | CA1321544934 | BMPR2 | c.1087C= (p.Leu363=) c.1018C= (p.Leu340=) | |
2 | g.202530913C>G | CA2061285 | BMPR2 | c.1087C>G (p.Leu363Val) c.1018C>G (p.Leu340Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202530913C>T | CA430847970 | BMPR2 | c.1087C>T (p.Leu363=) c.1018C>T (p.Leu340=) | dbSNP gnomAD v4 |
2 | g.202530914T>A | CA350341528 | BMPR2 | c.1088T>A (p.Leu363Gln) c.1019T>A (p.Leu340Gln) | |
2 | g.202530914T>C | CA350341530 | BMPR2 | c.1088T>C (p.Leu363Pro) c.1019T>C (p.Leu340Pro) | |
2 | g.202530914T>G | CA350341529 | BMPR2 | c.1088T>G (p.Leu363Arg) c.1019T>G (p.Leu340Arg) | |
2 | g.202530915G>A | CA430847982 | BMPR2 | c.1089G>A (p.Leu363=) c.1020G>A (p.Leu340=) | |
2 | g.202530915G>C | CA430847983 | BMPR2 | c.1089G>C (p.Leu363=) c.1020G>C (p.Leu340=) | gnomAD v4 |
2 | g.202530915G>T | CA430847985 | BMPR2 | c.1089G>T (p.Leu363=) c.1020G>T (p.Leu340=) | gnomAD v4 |
2 | g.202530916del | CA2586965559 | BMPR2 | c.1090del (p.Val364CysfsTer11) c.1021del (p.Val341CysfsTer11) | |
2 | g.202530916G>A | CA350341531 | BMPR2 | c.1090G>A (p.Val364Met) c.1021G>A (p.Val341Met) | |
2 | g.202530916G>C | CA350341532 | BMPR2 | c.1090G>C (p.Val364Leu) c.1021G>C (p.Val341Leu) | |
2 | g.202530916G>T | CA350341533 | BMPR2 | c.1090G>T (p.Val364Leu) c.1021G>T (p.Val341Leu) | |
2 | g.202530917del | CA2499215572 | BMPR2 | c.1091del (p.Val364GlyfsTer11) c.1022del (p.Val341GlyfsTer11) | ClinVar dbSNP |
2 | g.202530917T>A | CA350341534 | BMPR2 | c.1091T>A (p.Val364Glu) c.1022T>A (p.Val341Glu) | |
2 | g.202530917T>C | CA350341535 | BMPR2 | c.1091T>C (p.Val364Ala) c.1022T>C (p.Val341Ala) | gnomAD v4 |
2 | g.202530917T>G | CA350341536 | BMPR2 | c.1091T>G (p.Val364Gly) c.1022T>G (p.Val341Gly) | |
2 | g.202530918G>A | CA430848001 | BMPR2 | c.1092G>A (p.Val364=) c.1023G>A (p.Val341=) | |
2 | g.202530918G>C | CA430848007 | BMPR2 | c.1092G>C (p.Val364=) c.1023G>C (p.Val341=) | |
2 | g.202530918G>T | CA430848004 | BMPR2 | c.1092G>T (p.Val364=) c.1023G>T (p.Val341=) | |
2 | g.202530918_202530924delinsGCGCCCA | CA1321544935 | BMPR2 | c.1092_1098delinsGCGCCCA (p.Val364=) c.1023_1029delinsGCGCCCA (p.Val341=) | |
2 | g.202530919C>A | CA350341537 | BMPR2 | c.1093C>A (p.Arg365Ser) c.1024C>A (p.Arg342Ser) | |
2 | g.202530919C= | CA1321544936 | BMPR2 | c.1093C= (p.Arg365=) c.1024C= (p.Arg342=) | |
2 | g.202530919C>G | CA350341538 | BMPR2 | c.1093C>G (p.Arg365Gly) c.1024C>G (p.Arg342Gly) | |
2 | g.202530919C>T | CA2061286 | BMPR2 | c.1093C>T (p.Arg365Cys) c.1024C>T (p.Arg342Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530919_202530924delinsG | CA645293975 | BMPR2 | c.1093_1098delinsG (p.Arg365GlyfsTer5) c.1024_1029delinsG (p.Arg342GlyfsTer5) | ClinVar dbSNP |
2 | g.202530920G>A | CA2061287 | BMPR2 | c.1094G>A (p.Arg365His) c.1025G>A (p.Arg342His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530920G>C | CA350341539 | BMPR2 | c.1094G>C (p.Arg365Pro) c.1025G>C (p.Arg342Pro) | |
2 | g.202530920G= | CA1321544937 | BMPR2 | c.1094G= (p.Arg365=) c.1025G= (p.Arg342=) | |
2 | g.202530920G>T | CA350341540 | BMPR2 | c.1094G>T (p.Arg365Leu) c.1025G>T (p.Arg342Leu) | |
2 | g.202530920_202530921delinsGC | CA1321544938 | BMPR2 | c.1094_1095delinsGC (p.Arg365=) c.1025_1026delinsGC (p.Arg342=) | |
2 | g.202530921C>A | CA430848025 | BMPR2 | c.1095C>A (p.Arg365=) c.1026C>A (p.Arg342=) | |
2 | g.202530921C= | CA1321544939 | BMPR2 | c.1095C= (p.Arg365=) c.1026C= (p.Arg342=) | |
2 | g.202530921C>G | CA430848033 | BMPR2 | c.1095C>G (p.Arg365=) c.1026C>G (p.Arg342=) | |
2 | g.202530921C>T | CA2061288 | BMPR2 | c.1095C>T (p.Arg365=) c.1026C>T (p.Arg342=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530923del | CA645293976 | BMPR2 | c.1097del (p.Pro366GlnfsTer9) c.1028del (p.Pro343GlnfsTer9) | ClinVar dbSNP |
2 | g.202530922C>A | CA350341541 | BMPR2 | c.1096C>A (p.Pro366Thr) c.1027C>A (p.Pro343Thr) | |
2 | g.202530922C= | CA1321544940 | BMPR2 | c.1096C= (p.Pro366=) c.1027C= (p.Pro343=) | |
2 | g.202530922C>G | CA2061289 | BMPR2 | c.1096C>G (p.Pro366Ala) c.1027C>G (p.Pro343Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530922C>T | CA2061290 | BMPR2 | c.1096C>T (p.Pro366Ser) c.1027C>T (p.Pro343Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202530923C>A | CA350341542 | BMPR2 | c.1097C>A (p.Pro366Gln) c.1028C>A (p.Pro343Gln) | dbSNP |
2 | g.202530923C= | CA1321544942 | BMPR2 | c.1097C= (p.Pro366=) c.1028C= (p.Pro343=) | |
2 | g.202530923C>G | CA350341543 | BMPR2 | c.1097C>G (p.Pro366Arg) c.1028C>G (p.Pro343Arg) | |
2 | g.202530923C>T | CA350341544 | BMPR2 | c.1097C>T (p.Pro366Leu) c.1028C>T (p.Pro343Leu) | dbSNP gnomAD v4 |
2 | g.202530923_202530928delinsCAGGGG | CA1321544941 | BMPR2 | c.1097_1102delinsCAGGGG (p.Pro366=) c.1028_1033delinsCAGGGG (p.Pro343=) | |
2 | g.202530924A= | CA1321544943 | BMPR2 | c.1098A= (p.Pro366=) c.1029A= (p.Pro343=) | |
2 | g.202530924A>C | CA430848042 | BMPR2 | c.1098A>C (p.Pro366=) c.1029A>C (p.Pro343=) | |
2 | g.202530924A>G | CA430848044 | BMPR2 | c.1098A>G (p.Pro366=) c.1029A>G (p.Pro343=) | dbSNP |
2 | g.202530924A>T | CA430848048 | BMPR2 | c.1098A>T (p.Pro366=) c.1029A>T (p.Pro343=) | |
2 | g.202530927_202530931del | CA645293977 | BMPR2 | c.1101_1105del (p.Glu368ArgfsTer2) c.1032_1036del (p.Glu345ArgfsTer2) | ClinVar dbSNP |
2 | g.202530925G>A | CA350341545 | BMPR2 | c.1099G>A (p.Gly367Arg) c.1030G>A (p.Gly344Arg) | gnomAD v4 |
2 | g.202530925G>C | CA64023433 | BMPR2 | c.1099G>C (p.Gly367Arg) c.1030G>C (p.Gly344Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202530925G= | CA1321544944 | BMPR2 | c.1099G= (p.Gly367=) c.1030G= (p.Gly344=) | |
2 | g.202530925G>T | CA350341546 | BMPR2 | c.1099G>T (p.Gly367Trp) c.1030G>T (p.Gly344Trp) | |
2 | g.202530926G>A | CA350341547 | BMPR2 | c.1100G>A (p.Gly367Glu) c.1031G>A (p.Gly344Glu) | COSMIC |
2 | g.202530926G>C | CA350341548 | BMPR2 | c.1100G>C (p.Gly367Ala) c.1031G>C (p.Gly344Ala) | |
2 | g.202530926G>T | CA350341549 | BMPR2 | c.1100G>T (p.Gly367Val) c.1031G>T (p.Gly344Val) | |
2 | g.202530927G>A | CA430848066 | BMPR2 | c.1101G>A (p.Gly367=) c.1032G>A (p.Gly344=) | |
2 | g.202530927G>C | CA430848067 | BMPR2 | c.1101G>C (p.Gly367=) c.1032G>C (p.Gly344=) | |
2 | g.202530927G>T | CA430848068 | BMPR2 | c.1101G>T (p.Gly367=) c.1032G>T (p.Gly344=) | |
2 | g.202530928G>A | CA350341552 | BMPR2 | c.1102G>A (p.Glu368Lys) c.1033G>A (p.Glu345Lys) | |
2 | g.202530928G>C | CA350341551 | BMPR2 | c.1102G>C (p.Glu368Gln) c.1033G>C (p.Glu345Gln) | |
2 | g.202530928G>T | CA350341550 | BMPR2 | c.1102G>T (p.Glu368Ter) c.1033G>T (p.Glu345Ter) | ClinVar dbSNP |
2 | g.202530929A>C | CA350341553 | BMPR2 | c.1103A>C (p.Glu368Ala) c.1034A>C (p.Glu345Ala) | |
2 | g.202530929A>G | CA350341554 | BMPR2 | c.1103A>G (p.Glu368Gly) c.1034A>G (p.Glu345Gly) | |
2 | g.202530929A>T | CA350341555 | BMPR2 | c.1103A>T (p.Glu368Val) c.1034A>T (p.Glu345Val) | |
2 | g.202530930G>A | CA64023437 | BMPR2 | c.1104G>A (p.Glu368=) c.1035G>A (p.Glu345=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530930G>C | CA350341556 | BMPR2 | c.1104G>C (p.Glu368Asp) c.1035G>C (p.Glu345Asp) | |
2 | g.202530930G= | CA1321544945 | BMPR2 | c.1104G= (p.Glu368=) c.1035G= (p.Glu345=) | |
2 | g.202530930G>T | CA350341557 | BMPR2 | c.1104G>T (p.Glu368Asp) c.1035G>T (p.Glu345Asp) | |
2 | g.202530931G>A | CA2061291 | BMPR2 | c.1105G>A (p.Glu369Lys) c.1036G>A (p.Glu346Lys) | dbSNP ExAC |
2 | g.202530931G>C | CA350341558 | BMPR2 | c.1105G>C (p.Glu369Gln) c.1036G>C (p.Glu346Gln) | |
2 | g.202530931G= | CA1321544946 | BMPR2 | c.1105G= (p.Glu369=) c.1036G= (p.Glu346=) | |
2 | g.202530931G>T | CA350341559 | BMPR2 | c.1105G>T (p.Glu369Ter) c.1036G>T (p.Glu346Ter) | |
2 | g.202530932A>C | CA350341560 | BMPR2 | c.1106A>C (p.Glu369Ala) c.1037A>C (p.Glu346Ala) | |
2 | g.202530932A>G | CA350341561 | BMPR2 | c.1106A>G (p.Glu369Gly) c.1037A>G (p.Glu346Gly) | |
2 | g.202530932A>T | CA350341562 | BMPR2 | c.1106A>T (p.Glu369Val) c.1037A>T (p.Glu346Val) | |
2 | g.202530933A>C | CA350341563 | BMPR2 | c.1107A>C (p.Glu369Asp) c.1038A>C (p.Glu346Asp) | |
2 | g.202530933A>G | CA430848137 | BMPR2 | c.1107A>G (p.Glu369=) c.1038A>G (p.Glu346=) | gnomAD v4 |
2 | g.202530933A>T | CA350341564 | BMPR2 | c.1107A>T (p.Glu369Asp) c.1038A>T (p.Glu346Asp) | |
2 | g.202530934G>A | CA350341565 | BMPR2 | c.1108G>A (p.Asp370Asn) c.1039G>A (p.Asp347Asn) | |
2 | g.202530934G>C | CA350341567 | BMPR2 | c.1108G>C (p.Asp370His) c.1039G>C (p.Asp347His) | |
2 | g.202530934G>T | CA350341566 | BMPR2 | c.1108G>T (p.Asp370Tyr) c.1039G>T (p.Asp347Tyr) | |
2 | g.202530935A>C | CA350341568 | BMPR2 | c.1109A>C (p.Asp370Ala) c.1040A>C (p.Asp347Ala) | |
2 | g.202530935A>G | CA350341569 | BMPR2 | c.1109A>G (p.Asp370Gly) c.1040A>G (p.Asp347Gly) | |
2 | g.202530935A>T | CA350341570 | BMPR2 | c.1109A>T (p.Asp370Val) c.1040A>T (p.Asp347Val) | |
2 | g.202530936T>A | CA2061292 | BMPR2 | c.1110T>A (p.Asp370Glu) c.1041T>A (p.Asp347Glu) | dbSNP ExAC |
2 | g.202530936T>C | CA430848175 | BMPR2 | c.1110T>C (p.Asp370=) c.1041T>C (p.Asp347=) | |
2 | g.202530936T>G | CA350341571 | BMPR2 | c.1110T>G (p.Asp370Glu) c.1041T>G (p.Asp347Glu) | |
2 | g.202530936T= | CA1321544947 | BMPR2 | c.1110T= (p.Asp370=) c.1041T= (p.Asp347=) | |
2 | g.202530937A>C | CA350341572 | BMPR2 | c.1111A>C (p.Asn371His) c.1042A>C (p.Asn348His) | |
2 | g.202530937A>G | CA350341573 | BMPR2 | c.1111A>G (p.Asn371Asp) c.1042A>G (p.Asn348Asp) | |
2 | g.202530937A>T | CA350341574 | BMPR2 | c.1111A>T (p.Asn371Tyr) c.1042A>T (p.Asn348Tyr) | |
2 | g.202530938A= | CA1321544948 | BMPR2 | c.1112A= (p.Asn371=) c.1043A= (p.Asn348=) | |
2 | g.202530938A>C | CA350341575 | BMPR2 | c.1112A>C (p.Asn371Thr) c.1043A>C (p.Asn348Thr) | |
2 | g.202530938A>G | CA350341576 | BMPR2 | c.1112A>G (p.Asn371Ser) c.1043A>G (p.Asn348Ser) | |
2 | g.202530938A>T | CA350341577 | BMPR2 | c.1112A>T (p.Asn371Ile) c.1043A>T (p.Asn348Ile) | |
2 | g.202530939del | CA658761120 | BMPR2 | c.1113del (p.Asn371LysfsTer4) c.1044del (p.Asn348LysfsTer4) | |
2 | g.202530939T>A | CA350341579 | BMPR2 | c.1113T>A (p.Asn371Lys) c.1044T>A (p.Asn348Lys) | |
2 | g.202530939T>C | CA2061293 | BMPR2 | c.1113T>C (p.Asn371=) c.1044T>C (p.Asn348=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202530939T>G | CA350341578 | BMPR2 | c.1113T>G (p.Asn371Lys) c.1044T>G (p.Asn348Lys) | |
2 | g.202530939T= | CA1321544949 | BMPR2 | c.1113T= (p.Asn371=) c.1044T= (p.Asn348=) | |
2 | g.202530939dup | CA645293978 | BMPR2 | c.1113dup (p.Ala372CysfsTer27) c.1044dup (p.Ala349CysfsTer27) | ClinVar dbSNP |
2 | g.202530940G>A | CA350341581 | BMPR2 | c.1114G>A (p.Ala372Thr) c.1045G>A (p.Ala349Thr) | ClinVar COSMIC |
2 | g.202530940G>C | CA2061294 | BMPR2 | c.1114G>C (p.Ala372Pro) c.1045G>C (p.Ala349Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202530940G= | CA1321544950 | BMPR2 | c.1114G= (p.Ala372=) c.1045G= (p.Ala349=) | |
2 | g.202530940G>T | CA350341580 | BMPR2 | c.1114G>T (p.Ala372Ser) c.1045G>T (p.Ala349Ser) | |
2 | g.202530942_202530944dup | CA539387044 | BMPR2 | c.1116_1118dup (p.Ala373_Ile374insAla) c.1047_1049dup (p.Ala350_Ile351insAla) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202530941C>A | CA350341582 | BMPR2 | c.1115C>A (p.Ala372Glu) c.1046C>A (p.Ala349Glu) | |
2 | g.202530941C>G | CA350341583 | BMPR2 | c.1115C>G (p.Ala372Gly) c.1046C>G (p.Ala349Gly) | |
2 | g.202530941C>T | CA350341584 | BMPR2 | c.1115C>T (p.Ala372Val) c.1046C>T (p.Ala349Val) | |
2 | g.202530942A= | CA1321544951 | BMPR2 | c.1116A= (p.Ala372=) c.1047A= (p.Ala349=) | |
2 | g.202530942A>C | CA430848220 | BMPR2 | c.1116A>C (p.Ala372=) c.1047A>C (p.Ala349=) | |
2 | g.202530942A>G | CA430848221 | BMPR2 | c.1116A>G (p.Ala372=) c.1047A>G (p.Ala349=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202530942A>T | CA430848217 | BMPR2 | c.1116A>T (p.Ala372=) c.1047A>T (p.Ala349=) | |
2 | g.202530943G>A | CA350341585 | BMPR2 | c.1117G>A (p.Ala373Thr) c.1048G>A (p.Ala350Thr) | |
2 | g.202530943G>C | CA350341586 | BMPR2 | c.1117G>C (p.Ala373Pro) c.1048G>C (p.Ala350Pro) | ClinVar dbSNP |
2 | g.202530943G= | CA1321544952 | BMPR2 | c.1117G= (p.Ala373=) c.1048G= (p.Ala350=) | |
2 | g.202530943G>T | CA350341587 | BMPR2 | c.1117G>T (p.Ala373Ser) c.1048G>T (p.Ala350Ser) | |
2 | g.202530944C>A | CA350341588 | BMPR2 | c.1118C>A (p.Ala373Asp) c.1049C>A (p.Ala350Asp) | |
2 | g.202530944C= | CA1321544953 | BMPR2 | c.1118C= (p.Ala373=) c.1049C= (p.Ala350=) | |
2 | g.202530944C>G | CA350341589 | BMPR2 | c.1118C>G (p.Ala373Gly) c.1049C>G (p.Ala350Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202530944C>T | CA350341590 | BMPR2 | c.1118C>T (p.Ala373Val) c.1049C>T (p.Ala350Val) | |
2 | g.202530945C>A | CA430848236 | BMPR2 | c.1119C>A (p.Ala373=) c.1050C>A (p.Ala350=) | |
2 | g.202530945C>G | CA430848239 | BMPR2 | c.1119C>G (p.Ala373=) c.1050C>G (p.Ala350=) | |
2 | g.202530945C>T | CA430848242 | BMPR2 | c.1119C>T (p.Ala373=) c.1050C>T (p.Ala350=) | |
2 | g.202530945_202530946delinsCA | CA1321544954 | BMPR2 | c.1119_1120delinsCA (p.Ala373=) c.1050_1051delinsCA (p.Ala350=) | |
2 | g.202530946del | CA645293979 | BMPR2 | c.1120del (p.Ile374Ter) c.1051del (p.Ile351Ter) | ClinVar dbSNP |
2 | g.202530946A= | CA1321544955 | BMPR2 | c.1120A= (p.Ile374=) c.1051A= (p.Ile351=) | |
2 | g.202530946A>C | CA350341592 | BMPR2 | c.1120A>C (p.Ile374Leu) c.1051A>C (p.Ile351Leu) | |
2 | g.202530946A>G | CA2061295 | BMPR2 | c.1120A>G (p.Ile374Val) c.1051A>G (p.Ile351Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202530946A>T | CA350341591 | BMPR2 | c.1120A>T (p.Ile374Leu) c.1051A>T (p.Ile351Leu) | |
2 | g.202530947T>A | CA350341593 | BMPR2 | c.1121T>A (p.Ile374Lys) c.1052T>A (p.Ile351Lys) | |
2 | g.202530947T>C | CA350341594 | BMPR2 | c.1121T>C (p.Ile374Thr) c.1052T>C (p.Ile351Thr) | |
2 | g.202530947T>G | CA350341595 | BMPR2 | c.1121T>G (p.Ile374Arg) c.1052T>G (p.Ile351Arg) | |
2 | g.202530948A>C | CA430848269 | BMPR2 | c.1122A>C (p.Ile374=) c.1053A>C (p.Ile351=) | |
2 | g.202530948A>G | CA350341596 | BMPR2 | c.1122A>G (p.Ile374Met) c.1053A>G (p.Ile351Met) | |
2 | g.202530948A>T | CA430848274 | BMPR2 | c.1122A>T (p.Ile374=) c.1053A>T (p.Ile351=) | |
2 | g.202530949dup | CA2586965562 | BMPR2 | c.1123dup (p.Ser375LysfsTer24) c.1054dup (p.Ser352LysfsTer24) | |
2 | g.202530951_202530971del | CA2586965563 | BMPR2 | c.1125_1128+17del c.1056_1059+17del | |
2 | g.202530949A>C | CA350341597 | BMPR2 | c.1123A>C (p.Ser375Arg) c.1054A>C (p.Ser352Arg) | |
2 | g.202530949A>G | CA350341598 | BMPR2 | c.1123A>G (p.Ser375Gly) c.1054A>G (p.Ser352Gly) | |
2 | g.202530949A>T | CA350341599 | BMPR2 | c.1123A>T (p.Ser375Cys) c.1054A>T (p.Ser352Cys) | |
2 | g.202530950G>A | CA350341600 | BMPR2 | c.1124G>A (p.Ser375Asn) c.1055G>A (p.Ser352Asn) | |
2 | g.202530950G>C | CA350341601 | BMPR2 | c.1124G>C (p.Ser375Thr) c.1055G>C (p.Ser352Thr) | |
2 | g.202530950G>T | CA350341602 | BMPR2 | c.1124G>T (p.Ser375Ile) c.1055G>T (p.Ser352Ile) | |
2 | g.202530950_202530970delinsGCGAGGTGAGTGTATACAAAA | CA1321544956 | BMPR2 | c.1124_1128+16delinsGCGAGGTGAGTGTATACAAAA c.1055_1059+16delinsGCGAGGTGAGTGTATACAAAA | |
2 | g.202530951C>A | CA350341603 | BMPR2 | c.1125C>A (p.Ser375Arg) c.1056C>A (p.Ser352Arg) | |
2 | g.202530951C= | CA1321544957 | BMPR2 | c.1125C= (p.Ser375=) c.1056C= (p.Ser352=) | |
2 | g.202530951C>G | CA350341604 | BMPR2 | c.1125C>G (p.Ser375Arg) c.1056C>G (p.Ser352Arg) | |
2 | g.202530951C>T | CA430848296 | BMPR2 | c.1125C>T (p.Ser375=) c.1056C>T (p.Ser352=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530951_202530970del | CA10581912 | BMPR2 | c.1125_1128+16del c.1056_1059+16del | ClinVar dbSNP |
2 | g.202530952G>A | CA350341606 | BMPR2 | c.1126G>A (p.Glu376Lys) c.1057G>A (p.Glu353Lys) | ClinVar dbSNP |
2 | g.202530952G>C | CA350341607 | BMPR2 | c.1126G>C (p.Glu376Gln) c.1057G>C (p.Glu353Gln) | |
2 | g.202530952G= | CA1321544958 | BMPR2 | c.1126G= (p.Glu376=) c.1057G= (p.Glu353=) | |
2 | g.202530952G>T | CA350341605 | BMPR2 | c.1126G>T (p.Glu376Ter) c.1057G>T (p.Glu353Ter) | ClinVar dbSNP |
2 | g.202530953A>C | CA350341608 | BMPR2 | c.1127A>C (p.Glu376Ala) c.1058A>C (p.Glu353Ala) | |
2 | g.202530953A>G | CA350341609 | BMPR2 | c.1127A>G (p.Glu376Gly) c.1058A>G (p.Glu353Gly) | |
2 | g.202530953A>T | CA350341610 | BMPR2 | c.1127A>T (p.Glu376Val) c.1058A>T (p.Glu353Val) | |
2 | g.202530954G>A | CA2061296 | BMPR2 | c.1128G>A (p.Glu376=) c.1059G>A (p.Glu353=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530954G>C | CA350341611 | BMPR2 | c.1128G>C (p.Glu376Asp) c.1059G>C (p.Glu353Asp) | |
2 | g.202530954G= | CA1321544959 | BMPR2 | c.1128G= (p.Glu376=) c.1059G= (p.Glu353=) | |
2 | g.202530954G>T | CA350341612 | BMPR2 | c.1128G>T (p.Glu376Asp) c.1059G>T (p.Glu353Asp) | |
2 | g.202530955del | CA2586965564 | BMPR2 | c.1128+1del c.1059+1del | |
2 | g.202530955G>A | CA322054 | BMPR2 | c.1128+1G>A (n.1128+1G>A) c.1059+1G>A (n.1059+1G>A) | ClinVar dbSNP |
2 | g.202530955G>C | CA10602826 | BMPR2 | c.1128+1G>C (n.1128+1G>C) c.1059+1G>C (n.1059+1G>C) | ClinVar dbSNP |
2 | g.202530955G= | CA1321544960 | BMPR2 | c.1128+1G= (n.1128+1G=) c.1059+1G= (n.1059+1G=) | |
2 | g.202530955G>T | CA350341613 | BMPR2 | c.1128+1G>T (n.1128+1G>T) c.1059+1G>T (n.1059+1G>T) | ClinVar dbSNP |
2 | g.202530956T>A | CA350341614 | BMPR2 | c.1128+2T>A (n.1128+2T>A) c.1059+2T>A (n.1059+2T>A) | |
2 | g.202530956T>C | CA350341615 | BMPR2 | c.1128+2T>C (n.1128+2T>C) c.1059+2T>C (n.1059+2T>C) | |
2 | g.202530956T>G | CA350341616 | BMPR2 | c.1128+2T>G (n.1128+2T>G) c.1059+2T>G (n.1059+2T>G) | ClinVar dbSNP |
2 | g.202530956T= | CA1321544961 | BMPR2 | c.1128+2T= (n.1128+2T=) c.1059+2T= (n.1059+2T=) | |
2 | g.202530957G>A | CA539387097 | BMPR2 | c.1128+3G>A (n.1128+3G>A) c.1059+3G>A (n.1059+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202530957G= | CA1321544962 | BMPR2 | c.1128+3G= (n.1128+3G=) c.1059+3G= (n.1059+3G=) | |
2 | g.202530958A= | CA1321544963 | BMPR2 | c.1128+4A= (n.1128+4A=) c.1059+4A= (n.1059+4A=) | |
2 | g.202530958A>C | CA64023524 | BMPR2 | c.1128+4A>C (n.1128+4A>C) c.1059+4A>C (n.1059+4A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530959G= | CA1321544964 | BMPR2 | c.1128+5G= (n.1128+5G=) c.1059+5G= (n.1059+5G=) | |
2 | g.202530960dup | CA2061297 | BMPR2 | c.1128+6dup (n.1128+6dup) c.1059+6dup (n.1059+6dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202530961G>A | CA2662706177 | BMPR2 | c.1128+7G>A (n.1128+7G>A) c.1059+7G>A (n.1059+7G>A) | gnomAD v4 |
2 | g.202530963A>G | CA2662706178 | BMPR2 | c.1128+9A>G (n.1128+9A>G) c.1059+9A>G (n.1059+9A>G) | gnomAD v4 |
2 | g.202530966C= | CA1321544965 | BMPR2 | c.1128+12C= (n.1128+12C=) c.1059+12C= (n.1059+12C=) | |
2 | g.202530966C>G | CA2662706179 | BMPR2 | c.1128+12C>G (n.1128+12C>G) c.1059+12C>G (n.1059+12C>G) | gnomAD v4 |
2 | g.202530966C>T | CA539387098 | BMPR2 | c.1128+12C>T (n.1128+12C>T) c.1059+12C>T (n.1059+12C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530967A= | CA1321544967 | BMPR2 | c.1128+13A= (n.1128+13A=) c.1059+13A= (n.1059+13A=) | |
2 | g.202530967A>T | CA1321544966 | BMPR2 | c.1128+13A>T (n.1128+13A>T) c.1059+13A>T (n.1059+13A>T) | dbSNP |
2 | g.202530970del | CA2662706181 | BMPR2 | c.1128+16del (n.1128+16del) c.1059+16del (n.1059+16del) | gnomAD v4 |
2 | g.202530967_202530998dup | CA2662706180 | BMPR2 | c.1128+13_1128+44dup (n.1128+13_1128+44dup) c.1059+13_1059+44dup (n.1059+13_1059+44dup) | gnomAD v4 |
2 | g.202530968A= | CA1321544968 | BMPR2 | c.1128+14A= (n.1128+14A=) c.1059+14A= (n.1059+14A=) | |
2 | g.202530968A>G | CA2061298 | BMPR2 | c.1128+14A>G (n.1128+14A>G) c.1059+14A>G (n.1059+14A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202530975T>C | CA2662706182 | BMPR2 | c.1128+21T>C (n.1128+21T>C) c.1059+21T>C (n.1059+21T>C) | gnomAD v4 |
2 | g.202530978C= | CA1321544969 | BMPR2 | c.1128+24C= (n.1128+24C=) c.1059+24C= (n.1059+24C=) | |
2 | g.202530978C>G | CA539387099 | BMPR2 | c.1128+24C>G (n.1128+24C>G) c.1059+24C>G (n.1059+24C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202530978C>T | CA1321544970 | BMPR2 | c.1128+24C>T (n.1128+24C>T) c.1059+24C>T (n.1059+24C>T) | dbSNP |
2 | g.202530979A>G | CA2662706183 | BMPR2 | c.1128+25A>G (n.1128+25A>G) c.1059+25A>G (n.1059+25A>G) | gnomAD v4 |
2 | g.202530980C= | CA1321544971 | BMPR2 | c.1128+26C= (n.1128+26C=) c.1059+26C= (n.1059+26C=) | |
2 | g.202530980C>T | CA2061299 | BMPR2 | c.1128+26C>T (n.1128+26C>T) c.1059+26C>T (n.1059+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202530981T>C | CA539387101 | BMPR2 | c.1128+27T>C (n.1128+27T>C) c.1059+27T>C (n.1059+27T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202530981T>G | CA539387100 | BMPR2 | c.1128+27T>G (n.1128+27T>G) c.1059+27T>G (n.1059+27T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530981T= | CA1321544972 | BMPR2 | c.1128+27T= (n.1128+27T=) c.1059+27T= (n.1059+27T=) | |
2 | g.202530982G= | CA1321544973 | BMPR2 | c.1128+28G= (n.1128+28G=) c.1059+28G= (n.1059+28G=) | |
2 | g.202530982G>T | CA1041346463 | BMPR2 | c.1128+28G>T (n.1128+28G>T) c.1059+28G>T (n.1059+28G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202530983A>G | CA2577215645 | BMPR2 | c.1128+29A>G (n.1128+29A>G) c.1059+29A>G (n.1059+29A>G) | |
2 | g.202530988C>T | CA2662706184 | BMPR2 | c.1128+34C>T (n.1128+34C>T) c.1059+34C>T (n.1059+34C>T) | gnomAD v4 |
2 | g.202530992G>C | CA2701362009 | BMPR2 | c.1128+38G>C (n.1128+38G>C) c.1059+38G>C (n.1059+38G>C) | dbSNP |
2 | g.202530992G= | CA1321544974 | BMPR2 | c.1128+38G= (n.1128+38G=) c.1059+38G= (n.1059+38G=) | |
2 | g.202530992G>T | CA1321544975 | BMPR2 | c.1128+38G>T (n.1128+38G>T) c.1059+38G>T (n.1059+38G>T) | dbSNP gnomAD v4 |
2 | g.202530993A= | CA1321544976 | BMPR2 | c.1128+39A= (n.1128+39A=) c.1059+39A= (n.1059+39A=) | |
2 | g.202530993A>C | CA2662706186 | BMPR2 | c.1128+39A>C (n.1128+39A>C) c.1059+39A>C (n.1059+39A>C) | gnomAD v4 |
2 | g.202530993A>G | CA2662706185 | BMPR2 | c.1128+39A>G (n.1128+39A>G) c.1059+39A>G (n.1059+39A>G) | gnomAD v4 |
2 | g.202530993A>T | CA1321544977 | BMPR2 | c.1128+39A>T (n.1128+39A>T) c.1059+39A>T (n.1059+39A>T) | dbSNP |
2 | g.202530995A= | CA1321544978 | BMPR2 | c.1128+41A= (n.1128+41A=) c.1059+41A= (n.1059+41A=) | |
2 | g.202530995A>G | CA539387102 | BMPR2 | c.1128+41A>G (n.1128+41A>G) c.1059+41A>G (n.1059+41A>G) | dbSNP gnomAD v2 |
2 | g.202530995A>T | CA539387103 | BMPR2 | c.1128+41A>T (n.1128+41A>T) c.1059+41A>T (n.1059+41A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530996T>C | CA1321544980 | BMPR2 | c.1128+42T>C (n.1128+42T>C) c.1059+42T>C (n.1059+42T>C) | dbSNP gnomAD v4 |
2 | g.202530996T= | CA1321544979 | BMPR2 | c.1128+42T= (n.1128+42T=) c.1059+42T= (n.1059+42T=) | |
2 | g.202530997G>A | CA2662706187 | BMPR2 | c.1128+43G>A (n.1128+43G>A) c.1059+43G>A (n.1059+43G>A) | gnomAD v4 |
2 | g.202530997G= | CA1321544981 | BMPR2 | c.1128+43G= (n.1128+43G=) c.1059+43G= (n.1059+43G=) | |
2 | g.202530997G>T | CA1321544982 | BMPR2 | c.1128+43G>T (n.1128+43G>T) c.1059+43G>T (n.1059+43G>T) | dbSNP gnomAD v4 |
2 | g.202530998A= | CA1321544983 | BMPR2 | c.1128+44A= (n.1128+44A=) c.1059+44A= (n.1059+44A=) | |
2 | g.202530998A>G | CA1321544984 | BMPR2 | c.1128+44A>G (n.1128+44A>G) c.1059+44A>G (n.1059+44A>G) | dbSNP |
2 | g.202531004_202531008del | CA2662706188 | BMPR2 | c.1128+50_1128+54del (n.1128+50_1128+54del) c.1059+50_1059+54del (n.1059+50_1059+54del) | gnomAD v4 |
2 | g.202531000A>T | CA2662706189 | BMPR2 | c.1128+46A>T (n.1128+46A>T) c.1059+46A>T (n.1059+46A>T) | gnomAD v4 |
2 | g.202531002T>C | CA2753905955 | BMPR2 | c.1128+48T>C (n.1128+48T>C) c.1059+48T>C (n.1059+48T>C) | |
2 | g.202531003T>C | CA539387104 | BMPR2 | c.1128+49T>C (n.1128+49T>C) c.1059+49T>C (n.1059+49T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202531003T= | CA1321544985 | BMPR2 | c.1128+49T= (n.1128+49T=) c.1059+49T= (n.1059+49T=) | |
2 | g.202531004T>G | CA1321544987 | BMPR2 | c.1128+50T>G (n.1128+50T>G) c.1059+50T>G (n.1059+50T>G) | dbSNP |
2 | g.202531004T= | CA1321544986 | BMPR2 | c.1128+50T= (n.1128+50T=) c.1059+50T= (n.1059+50T=) | |
2 | g.202531004_202531005insC | CA2061300 | BMPR2 | c.1128+50_1128+51insC (n.1128+50_1128+51insC) c.1059+50_1059+51insC (n.1059+50_1059+51insC) | dbSNP ExAC |
2 | g.202531006A>C | CA2577215646 | BMPR2 | c.1128+52A>C (n.1128+52A>C) c.1059+52A>C (n.1059+52A>C) | |
2 | g.202531007T>C | CA2662706190 | BMPR2 | c.1128+53T>C (n.1128+53T>C) c.1059+53T>C (n.1059+53T>C) | gnomAD v4 |
2 | g.202531012A>G | CA2577215647 | BMPR2 | c.1128+58A>G (n.1128+58A>G) c.1059+58A>G (n.1059+58A>G) | |
2 | g.202531013C= | CA1321544988 | BMPR2 | c.1128+59C= (n.1128+59C=) c.1059+59C= (n.1059+59C=) | |
2 | g.202531013C>T | CA1041346465 | BMPR2 | c.1128+59C>T (n.1128+59C>T) c.1059+59C>T (n.1059+59C>T) | dbSNP gnomAD v3 gnomAD v4 |