| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202530918_202530924delinsGCGCCCA | CA1321544935 | BMPR2 | c.1092_1098delinsGCGCCCA (p.Val364=) c.1023_1029delinsGCGCCCA (p.Val341=) | |
| 2 | g.202530919_202530924delinsG | CA645293975 | BMPR2 | c.1093_1098delinsG (p.Arg365GlyfsTer5) c.1024_1029delinsG (p.Arg342GlyfsTer5) | ClinVar dbSNP |
| 2 | g.202530923del | CA645293976 | BMPR2 | c.1097del (p.Pro366GlnfsTer9) c.1028del (p.Pro343GlnfsTer9) | ClinVar dbSNP |
| 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 |