Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202530901_202530902delinsAC | CA1321544931 | BMPR2 | c.1075_1076delinsAC (p.Thr359=) c.1006_1007delinsAC (p.Thr336=) | |
2 | g.202530902del | CA645293974 | BMPR2 | c.1076del (p.Thr359MetfsTer16) c.1007del (p.Thr336MetfsTer16) | ClinVar dbSNP |
2 | g.202530902C>A | CA350341503 | BMPR2 | c.1076C>A (p.Thr359Asn) c.1007C>A (p.Thr336Asn) | |
2 | g.202530902C>G | CA350341504 | BMPR2 | c.1076C>G (p.Thr359Ser) c.1007C>G (p.Thr336Ser) | |
2 | g.202530902C>T | CA350341505 | BMPR2 | c.1076C>T (p.Thr359Ile) c.1007C>T (p.Thr336Ile) | |
2 | g.202530902_202530904delinsCTG | CA1321544932 | BMPR2 | c.1076_1078delinsCTG (p.Thr359=) c.1007_1009delinsCTG (p.Thr336=) | |
2 | g.202530903T>A | CA430847892 | BMPR2 | c.1077T>A (p.Thr359=) c.1008T>A (p.Thr336=) | |
2 | g.202530903T>C | CA430847901 | BMPR2 | c.1077T>C (p.Thr359=) c.1008T>C (p.Thr336=) | |
2 | g.202530903T>G | CA430847893 | BMPR2 | c.1077T>G (p.Thr359=) c.1008T>G (p.Thr336=) | |
2 | g.202530903_202530904del | CA915941650 | BMPR2 | c.1077_1078del (p.Gly360LysfsTer2) c.1008_1009del (p.Gly337LysfsTer2) | ClinVar dbSNP |
2 | g.202530904G>A | CA350341506 | BMPR2 | c.1078G>A (p.Gly360Arg) c.1009G>A (p.Gly337Arg) | |
2 | g.202530904G>C | CA350341507 | BMPR2 | c.1078G>C (p.Gly360Arg) c.1009G>C (p.Gly337Arg) | |
2 | g.202530904G>T | CA350341508 | BMPR2 | c.1078G>T (p.Gly360Ter) c.1009G>T (p.Gly337Ter) | |
2 | g.202530905G>A | CA350341511 | BMPR2 | c.1079G>A (p.Gly360Glu) c.1010G>A (p.Gly337Glu) | |
2 | g.202530905G>C | CA350341510 | BMPR2 | c.1079G>C (p.Gly360Ala) c.1010G>C (p.Gly337Ala) | gnomAD v4 |
2 | g.202530905G= | CA1321544933 | BMPR2 | c.1079G= (p.Gly360=) c.1010G= (p.Gly337=) | |
2 | g.202530905G>T | CA350341509 | BMPR2 | c.1079G>T (p.Gly360Val) c.1010G>T (p.Gly337Val) | dbSNP |
2 | g.202530906A>C | CA430847920 | BMPR2 | c.1080A>C (p.Gly360=) c.1011A>C (p.Gly337=) | |
2 | g.202530906A>G | CA430847922 | BMPR2 | c.1080A>G (p.Gly360=) c.1011A>G (p.Gly337=) | |
2 | g.202530906A>T | CA430847925 | BMPR2 | c.1080A>T (p.Gly360=) c.1011A>T (p.Gly337=) | |
2 | g.202530907A>C | CA350341512 | BMPR2 | c.1081A>C (p.Asn361His) c.1012A>C (p.Asn338His) | |
2 | g.202530907A>G | CA350341513 | BMPR2 | c.1081A>G (p.Asn361Asp) c.1012A>G (p.Asn338Asp) | |
2 | g.202530907A>T | CA350341514 | BMPR2 | c.1081A>T (p.Asn361Tyr) c.1012A>T (p.Asn338Tyr) | |
2 | g.202530908A>C | CA350341515 | BMPR2 | c.1082A>C (p.Asn361Thr) c.1013A>C (p.Asn338Thr) | |
2 | g.202530908A>G | CA350341516 | BMPR2 | c.1082A>G (p.Asn361Ser) c.1013A>G (p.Asn338Ser) | |
2 | g.202530908A>T | CA350341517 | BMPR2 | c.1082A>T (p.Asn361Ile) c.1013A>T (p.Asn338Ile) | |
2 | g.202530909T>A | CA350341518 | BMPR2 | c.1083T>A (p.Asn361Lys) c.1014T>A (p.Asn338Lys) | |
2 | g.202530909T>C | CA430847947 | BMPR2 | c.1083T>C (p.Asn361=) c.1014T>C (p.Asn338=) | ClinVar |
2 | g.202530909T>G | CA350341519 | BMPR2 | c.1083T>G (p.Asn361Lys) c.1014T>G (p.Asn338Lys) | gnomAD v4 |
2 | g.202530910A>C | CA430847954 | BMPR2 | c.1084A>C (p.Arg362=) c.1015A>C (p.Arg339=) | |
2 | g.202530910A>G | CA350341520 | BMPR2 | c.1084A>G (p.Arg362Gly) c.1015A>G (p.Arg339Gly) | |
2 | g.202530910A>T | CA350341521 | BMPR2 | c.1084A>T (p.Arg362Ter) c.1015A>T (p.Arg339Ter) | |
2 | g.202530911G>A | CA350341522 | BMPR2 | c.1085G>A (p.Arg362Lys) c.1016G>A (p.Arg339Lys) | |
2 | g.202530911G>C | CA350341523 | BMPR2 | c.1085G>C (p.Arg362Thr) c.1016G>C (p.Arg339Thr) | |
2 | g.202530911G>T | CA350341524 | BMPR2 | c.1085G>T (p.Arg362Ile) c.1016G>T (p.Arg339Ile) | |
2 | g.202530912A>C | CA350341525 | BMPR2 | c.1086A>C (p.Arg362Ser) c.1017A>C (p.Arg339Ser) | |
2 | g.202530912A>G | CA430847965 | BMPR2 | c.1086A>G (p.Arg362=) c.1017A>G (p.Arg339=) | |
2 | g.202530912A>T | CA350341526 | BMPR2 | c.1086A>T (p.Arg362Ser) c.1017A>T (p.Arg339Ser) | |
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) |