Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202530863C>A | CA2061282 | BMPR2 | c.1037C>A (p.Thr346Asn) c.968C>A (p.Thr323Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530863C= | CA1321544917 | BMPR2 | c.1037C= (p.Thr346=) c.968C= (p.Thr323=) | |
2 | g.202530863C>G | CA2061281 | BMPR2 | c.1037C>G (p.Thr346Ser) c.968C>G (p.Thr323Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530863C>T | CA350341419 | BMPR2 | c.1037C>T (p.Thr346Ile) c.968C>T (p.Thr323Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202530864C>A | CA430847615 | BMPR2 | c.1038C>A (p.Thr346=) c.969C>A (p.Thr323=) | |
2 | g.202530864C>G | CA430847618 | BMPR2 | c.1038C>G (p.Thr346=) c.969C>G (p.Thr323=) | |
2 | g.202530864C>T | CA430847619 | BMPR2 | c.1038C>T (p.Thr346=) c.969C>T (p.Thr323=) | gnomAD v4 |
2 | g.202530865T>A | CA350341420 | BMPR2 | c.1039T>A (p.Cys347Ser) c.970T>A (p.Cys324Ser) | gnomAD v4 |
2 | g.202530865T>C | CA350341421 | BMPR2 | c.1039T>C (p.Cys347Arg) c.970T>C (p.Cys324Arg) | ClinVar dbSNP |
2 | g.202530865T>G | CA350341422 | BMPR2 | c.1039T>G (p.Cys347Gly) c.970T>G (p.Cys324Gly) | |
2 | g.202530865T= | CA1321544918 | BMPR2 | c.1039T= (p.Cys347=) c.970T= (p.Cys324=) | |
2 | g.202530866G>A | CA278077 | BMPR2 | c.1040G>A (p.Cys347Tyr) c.971G>A (p.Cys324Tyr) | ClinVar dbSNP |
2 | g.202530866G>C | CA350341424 | BMPR2 | c.1040G>C (p.Cys347Ser) c.971G>C (p.Cys324Ser) | |
2 | g.202530866G= | CA1321544919 | BMPR2 | c.1040G= (p.Cys347=) c.971G= (p.Cys324=) | |
2 | g.202530866G>T | CA350341423 | BMPR2 | c.1040G>T (p.Cys347Phe) c.971G>T (p.Cys324Phe) | |
2 | g.202530867T>A | CA350341425 | BMPR2 | c.1041T>A (p.Cys347Ter) c.972T>A (p.Cys324Ter) | |
2 | g.202530867T>C | CA430847631 | BMPR2 | c.1041T>C (p.Cys347=) c.972T>C (p.Cys324=) | |
2 | g.202530867T>G | CA350341426 | BMPR2 | c.1041T>G (p.Cys347Trp) c.972T>G (p.Cys324Trp) | |
2 | g.202530868_202530873del | CA2586965556 | BMPR2 | c.1042_1047del (p.Val348_Ile349del) c.973_978del (p.Val325_Ile326del) | |
2 | g.202530868G>A | CA2061283 | BMPR2 | c.1042G>A (p.Val348Ile) c.973G>A (p.Val325Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530868G>C | CA350341427 | BMPR2 | c.1042G>C (p.Val348Leu) c.973G>C (p.Val325Leu) | gnomAD v4 |
2 | g.202530868G= | CA1321544920 | BMPR2 | c.1042G= (p.Val348=) c.973G= (p.Val325=) | |
2 | g.202530868G>T | CA350341428 | BMPR2 | c.1042G>T (p.Val348Phe) c.973G>T (p.Val325Phe) | |
2 | g.202530868_202530869delinsGT | CA1321544921 | BMPR2 | c.1042_1043delinsGT (p.Val348=) c.973_974delinsGT (p.Val325=) | |
2 | g.202530870_202530876del | CA2586965557 | BMPR2 | c.1044_1050del (p.Ile349ThrfsTer6) c.975_981del (p.Ile326ThrfsTer6) | |
2 | g.202530869T>A | CA350341429 | BMPR2 | c.1043T>A (p.Val348Asp) c.974T>A (p.Val325Asp) | |
2 | g.202530869T>C | CA350341430 | BMPR2 | c.1043T>C (p.Val348Ala) c.974T>C (p.Val325Ala) | |
2 | g.202530869T>G | CA350341431 | BMPR2 | c.1043T>G (p.Val348Gly) c.974T>G (p.Val325Gly) | |
2 | g.202530870del | CA645293972 | BMPR2 | c.1044del (p.Ile349LeufsTer8) c.975del (p.Ile326LeufsTer8) | ClinVar dbSNP |
2 | g.202530870T>A | CA430847650 | BMPR2 | c.1044T>A (p.Val348=) c.975T>A (p.Val325=) | |
2 | g.202530870T>C | CA430847653 | BMPR2 | c.1044T>C (p.Val348=) c.975T>C (p.Val325=) | dbSNP |
2 | g.202530870T>G | CA430847655 | BMPR2 | c.1044T>G (p.Val348=) c.975T>G (p.Val325=) | |
2 | g.202530870T= | CA1321544922 | BMPR2 | c.1044T= (p.Val348=) c.975T= (p.Val325=) | |
2 | g.202530870_202530874delinsG | CA2586965558 | BMPR2 | c.1044_1048delinsG (p.Ile349ValfsTer7) c.975_979delinsG (p.Ile326ValfsTer7) | |
2 | g.202530871A>C | CA350341432 | BMPR2 | c.1045A>C (p.Ile349Leu) c.976A>C (p.Ile326Leu) | |
2 | g.202530871A>G | CA350341433 | BMPR2 | c.1045A>G (p.Ile349Val) c.976A>G (p.Ile326Val) | gnomAD v4 |
2 | g.202530871A>T | CA350341434 | BMPR2 | c.1045A>T (p.Ile349Phe) c.976A>T (p.Ile326Phe) | |
2 | g.202530872T>A | CA350341435 | BMPR2 | c.1046T>A (p.Ile349Asn) c.977T>A (p.Ile326Asn) | |
2 | g.202530872T>C | CA350341437 | BMPR2 | c.1046T>C (p.Ile349Thr) c.977T>C (p.Ile326Thr) | gnomAD v4 |
2 | g.202530872T>G | CA350341436 | BMPR2 | c.1046T>G (p.Ile349Ser) c.977T>G (p.Ile326Ser) | |
2 | g.202530873T>A | CA430847671 | BMPR2 | c.1047T>A (p.Ile349=) c.978T>A (p.Ile326=) | |
2 | g.202530873T>C | CA430847674 | BMPR2 | c.1047T>C (p.Ile349=) c.978T>C (p.Ile326=) | gnomAD v4 |
2 | g.202530873T>G | CA350341438 | BMPR2 | c.1047T>G (p.Ile349Met) c.978T>G (p.Ile326Met) | |
2 | g.202530874A>C | CA350341439 | BMPR2 | c.1048A>C (p.Ser350Arg) c.979A>C (p.Ser327Arg) | |
2 | g.202530874A>G | CA350341440 | BMPR2 | c.1048A>G (p.Ser350Gly) c.979A>G (p.Ser327Gly) | |
2 | g.202530874A>T | CA350341441 | BMPR2 | c.1048A>T (p.Ser350Cys) c.979A>T (p.Ser327Cys) | gnomAD v4 |
2 | g.202530875G>A | CA350341442 | BMPR2 | c.1049G>A (p.Ser350Asn) c.980G>A (p.Ser327Asn) | |
2 | g.202530875G>C | CA350341443 | BMPR2 | c.1049G>C (p.Ser350Thr) c.980G>C (p.Ser327Thr) | |
2 | g.202530875G>T | CA350341444 | BMPR2 | c.1049G>T (p.Ser350Ile) c.980G>T (p.Ser327Ile) | |
2 | g.202530876T>A | CA350341445 | BMPR2 | c.1050T>A (p.Ser350Arg) c.981T>A (p.Ser327Arg) | |
2 | g.202530876T>C | CA430847690 | BMPR2 | c.1050T>C (p.Ser350=) c.981T>C (p.Ser327=) | |
2 | g.202530876T>G | CA350341446 | BMPR2 | c.1050T>G (p.Ser350Arg) c.981T>G (p.Ser327Arg) | |
2 | g.202530877G>A | CA350341447 | BMPR2 | c.1051G>A (p.Asp351Asn) c.982G>A (p.Asp328Asn) | |
2 | g.202530877G>C | CA350341448 | BMPR2 | c.1051G>C (p.Asp351His) c.982G>C (p.Asp328His) | |
2 | g.202530877G>T | CA350341449 | BMPR2 | c.1051G>T (p.Asp351Tyr) c.982G>T (p.Asp328Tyr) | |
2 | g.202530878A>C | CA350341452 | BMPR2 | c.1052A>C (p.Asp351Ala) c.983A>C (p.Asp328Ala) | |
2 | g.202530878A>G | CA350341450 | BMPR2 | c.1052A>G (p.Asp351Gly) c.983A>G (p.Asp328Gly) | |
2 | g.202530878A>T | CA350341451 | BMPR2 | c.1052A>T (p.Asp351Val) c.983A>T (p.Asp328Val) | |
2 | g.202530879C>A | CA350341453 | BMPR2 | c.1053C>A (p.Asp351Glu) c.984C>A (p.Asp328Glu) | |
2 | g.202530879C= | CA1321544923 | BMPR2 | c.1053C= (p.Asp351=) c.984C= (p.Asp328=) | |
2 | g.202530879C>G | CA350341454 | BMPR2 | c.1053C>G (p.Asp351Glu) c.984C>G (p.Asp328Glu) | |
2 | g.202530879C>T | CA430847709 | BMPR2 | c.1053C>T (p.Asp351=) c.984C>T (p.Asp328=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530880T>A | CA350341455 | BMPR2 | c.1054T>A (p.Phe352Ile) c.985T>A (p.Phe329Ile) | |
2 | g.202530880T>C | CA350341456 | BMPR2 | c.1054T>C (p.Phe352Leu) c.985T>C (p.Phe329Leu) | |
2 | g.202530880T>G | CA350341457 | BMPR2 | c.1054T>G (p.Phe352Val) c.985T>G (p.Phe329Val) | |
2 | g.202530881T>A | CA350341458 | BMPR2 | c.1055T>A (p.Phe352Tyr) c.986T>A (p.Phe329Tyr) | |
2 | g.202530881T>C | CA350341459 | BMPR2 | c.1055T>C (p.Phe352Ser) c.986T>C (p.Phe329Ser) | |
2 | g.202530881T>G | CA350341460 | BMPR2 | c.1055T>G (p.Phe352Cys) c.986T>G (p.Phe329Cys) | |
2 | g.202530882T>A | CA350341461 | BMPR2 | c.1056T>A (p.Phe352Leu) c.987T>A (p.Phe329Leu) | |
2 | g.202530882T>C | CA430847725 | BMPR2 | c.1056T>C (p.Phe352=) c.987T>C (p.Phe329=) | |
2 | g.202530882T>G | CA350341462 | BMPR2 | c.1056T>G (p.Phe352Leu) c.987T>G (p.Phe329Leu) | |
2 | g.202530883G>A | CA350341465 | BMPR2 | c.1057G>A (p.Gly353Arg) c.988G>A (p.Gly330Arg) | |
2 | g.202530883G>C | CA350341464 | BMPR2 | c.1057G>C (p.Gly353Arg) c.988G>C (p.Gly330Arg) | |
2 | g.202530883G>T | CA350341463 | BMPR2 | c.1057G>T (p.Gly353Ter) c.988G>T (p.Gly330Ter) | |
2 | g.202530884G>A | CA350341466 | BMPR2 | c.1058G>A (p.Gly353Glu) c.989G>A (p.Gly330Glu) | |
2 | g.202530884G>C | CA350341468 | BMPR2 | c.1058G>C (p.Gly353Ala) c.989G>C (p.Gly330Ala) | |
2 | g.202530884G>T | CA350341467 | BMPR2 | c.1058G>T (p.Gly353Val) c.989G>T (p.Gly330Val) | |
2 | g.202530885A= | CA1321544925 | BMPR2 | c.1059A= (p.Gly353=) c.990A= (p.Gly330=) | |
2 | g.202530885A>C | CA430847743 | BMPR2 | c.1059A>C (p.Gly353=) c.990A>C (p.Gly330=) | |
2 | g.202530885A>G | CA430847745 | BMPR2 | c.1059A>G (p.Gly353=) c.990A>G (p.Gly330=) | dbSNP gnomAD v2 |
2 | g.202530885A>T | CA430847748 | BMPR2 | c.1059A>T (p.Gly353=) c.990A>T (p.Gly330=) | |
2 | g.202530885_202530886delinsAC | CA1321544924 | BMPR2 | c.1059_1060delinsAC (p.Gly353=) c.990_991delinsAC (p.Gly330=) | |
2 | g.202530886del | CA645293973 | BMPR2 | c.1060del (p.Leu354CysfsTer3) c.991del (p.Leu331CysfsTer3) | ClinVar dbSNP |
2 | g.202530886C>A | CA350341469 | BMPR2 | c.1060C>A (p.Leu354Met) c.991C>A (p.Leu331Met) | |
2 | g.202530886C= | CA1321544926 | BMPR2 | c.1060C= (p.Leu354=) c.991C= (p.Leu331=) | |
2 | g.202530886C>G | CA350341470 | BMPR2 | c.1060C>G (p.Leu354Val) c.991C>G (p.Leu331Val) | |
2 | g.202530886C>T | CA430847752 | BMPR2 | c.1060C>T (p.Leu354=) c.991C>T (p.Leu331=) | dbSNP |
2 | g.202530887T>A | CA350341471 | BMPR2 | c.1061T>A (p.Leu354Gln) c.992T>A (p.Leu331Gln) | |
2 | g.202530887T>C | CA350341472 | BMPR2 | c.1061T>C (p.Leu354Pro) c.992T>C (p.Leu331Pro) | gnomAD v4 |
2 | g.202530887T>G | CA350341473 | BMPR2 | c.1061T>G (p.Leu354Arg) c.992T>G (p.Leu331Arg) | |
2 | g.202530888G>A | CA430847768 | BMPR2 | c.1062G>A (p.Leu354=) c.993G>A (p.Leu331=) | gnomAD v4 COSMIC |
2 | g.202530888G>C | CA430847770 | BMPR2 | c.1062G>C (p.Leu354=) c.993G>C (p.Leu331=) | |
2 | g.202530888G>T | CA430847776 | BMPR2 | c.1062G>T (p.Leu354=) c.993G>T (p.Leu331=) | |
2 | g.202530889T>A | CA350341474 | BMPR2 | c.1063T>A (p.Ser355Thr) c.994T>A (p.Ser332Thr) | |
2 | g.202530889T>C | CA350341475 | BMPR2 | c.1063T>C (p.Ser355Pro) c.994T>C (p.Ser332Pro) | |
2 | g.202530889T>G | CA350341476 | BMPR2 | c.1063T>G (p.Ser355Ala) c.994T>G (p.Ser332Ala) | |
2 | g.202530890C>A | CA350341477 | BMPR2 | c.1064C>A (p.Ser355Tyr) c.995C>A (p.Ser332Tyr) | |
2 | g.202530890C>G | CA350341478 | BMPR2 | c.1064C>G (p.Ser355Cys) c.995C>G (p.Ser332Cys) | |
2 | g.202530890C>T | CA350341479 | BMPR2 | c.1064C>T (p.Ser355Phe) c.995C>T (p.Ser332Phe) | |
2 | g.202530891C>A | CA430847795 | BMPR2 | c.1065C>A (p.Ser355=) c.996C>A (p.Ser332=) | |
2 | g.202530891C>G | CA430847797 | BMPR2 | c.1065C>G (p.Ser355=) c.996C>G (p.Ser332=) | |
2 | g.202530891C>T | CA430847800 | BMPR2 | c.1065C>T (p.Ser355=) c.996C>T (p.Ser332=) | dbSNP |
2 | g.202530892A= | CA1321544927 | BMPR2 | c.1066A= (p.Met356=) c.997A= (p.Met333=) | |
2 | g.202530892A>C | CA350341482 | BMPR2 | c.1066A>C (p.Met356Leu) c.997A>C (p.Met333Leu) | |
2 | g.202530892A>G | CA350341481 | BMPR2 | c.1066A>G (p.Met356Val) c.997A>G (p.Met333Val) | |
2 | g.202530892A>T | CA350341480 | BMPR2 | c.1066A>T (p.Met356Leu) c.997A>T (p.Met333Leu) | ClinVar dbSNP |
2 | g.202530893T>A | CA350341483 | BMPR2 | c.1067T>A (p.Met356Lys) c.998T>A (p.Met333Lys) | |
2 | g.202530893T>C | CA350341484 | BMPR2 | c.1067T>C (p.Met356Thr) c.998T>C (p.Met333Thr) | |
2 | g.202530893T>G | CA350341485 | BMPR2 | c.1067T>G (p.Met356Arg) c.998T>G (p.Met333Arg) | gnomAD v4 |
2 | g.202530894G>A | CA350341486 | BMPR2 | c.1068G>A (p.Met356Ile) c.999G>A (p.Met333Ile) | dbSNP gnomAD v4 |
2 | g.202530894G>C | CA350341487 | BMPR2 | c.1068G>C (p.Met356Ile) c.999G>C (p.Met333Ile) | |
2 | g.202530894G= | CA1321544928 | BMPR2 | c.1068G= (p.Met356=) c.999G= (p.Met333=) | |
2 | g.202530894G>T | CA350341488 | BMPR2 | c.1068G>T (p.Met356Ile) c.999G>T (p.Met333Ile) | |
2 | g.202530895del | CA2573134352 | BMPR2 | c.1069del (p.Arg357GlyfsTer2) c.1000del (p.Arg334GlyfsTer2) | ClinVar dbSNP |
2 | g.202530895A>C | CA430847822 | BMPR2 | c.1069A>C (p.Arg357=) c.1000A>C (p.Arg334=) | |
2 | g.202530895A>G | CA350341489 | BMPR2 | c.1069A>G (p.Arg357Gly) c.1000A>G (p.Arg334Gly) | |
2 | g.202530895A>T | CA350341490 | BMPR2 | c.1069A>T (p.Arg357Trp) c.1000A>T (p.Arg334Trp) | |
2 | g.202530896G>A | CA350341491 | BMPR2 | c.1070G>A (p.Arg357Lys) c.1001G>A (p.Arg334Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.202530896G>C | CA350341492 | BMPR2 | c.1070G>C (p.Arg357Thr) c.1001G>C (p.Arg334Thr) | |
2 | g.202530896G= | CA1321544929 | BMPR2 | c.1070G= (p.Arg357=) c.1001G= (p.Arg334=) | |
2 | g.202530896G>T | CA350341493 | BMPR2 | c.1070G>T (p.Arg357Met) c.1001G>T (p.Arg334Met) | |
2 | g.202530897G>A | CA430847840 | BMPR2 | c.1071G>A (p.Arg357=) c.1002G>A (p.Arg334=) | gnomAD v4 |
2 | g.202530897G>C | CA350341494 | BMPR2 | c.1071G>C (p.Arg357Ser) c.1002G>C (p.Arg334Ser) | |
2 | g.202530897G>T | CA350341495 | BMPR2 | c.1071G>T (p.Arg357Ser) c.1002G>T (p.Arg334Ser) | |
2 | g.202530898C>A | CA350341496 | BMPR2 | c.1072C>A (p.Leu358Met) c.1003C>A (p.Leu335Met) | |
2 | g.202530898C= | CA1321544930 | BMPR2 | c.1072C= (p.Leu358=) c.1003C= (p.Leu335=) | |
2 | g.202530898C>G | CA2061284 | BMPR2 | c.1072C>G (p.Leu358Val) c.1003C>G (p.Leu335Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202530898C>T | CA430847854 | BMPR2 | c.1072C>T (p.Leu358=) c.1003C>T (p.Leu335=) | gnomAD v4 |
2 | g.202530899T>A | CA350341497 | BMPR2 | c.1073T>A (p.Leu358Gln) c.1004T>A (p.Leu335Gln) | |
2 | g.202530899T>C | CA350341498 | BMPR2 | c.1073T>C (p.Leu358Pro) c.1004T>C (p.Leu335Pro) | |
2 | g.202530899T>G | CA350341499 | BMPR2 | c.1073T>G (p.Leu358Arg) c.1004T>G (p.Leu335Arg) | |
2 | g.202530900G>A | CA430847863 | BMPR2 | c.1074G>A (p.Leu358=) c.1005G>A (p.Leu335=) | |
2 | g.202530900G>C | CA430847859 | BMPR2 | c.1074G>C (p.Leu358=) c.1005G>C (p.Leu335=) | |
2 | g.202530900G>T | CA430847861 | BMPR2 | c.1074G>T (p.Leu358=) c.1005G>T (p.Leu335=) | |
2 | g.202530901A>C | CA350341500 | BMPR2 | c.1075A>C (p.Thr359Pro) c.1006A>C (p.Thr336Pro) | |
2 | g.202530901A>G | CA350341501 | BMPR2 | c.1075A>G (p.Thr359Ala) c.1006A>G (p.Thr336Ala) | |
2 | g.202530901A>T | CA350341502 | BMPR2 | c.1075A>T (p.Thr359Ser) c.1006A>T (p.Thr336Ser) | |
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) | |
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 |