Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202508280_202517537del | CA915941637 | BMPR2 | c.419-5439_622-1285del c.350-5439_553-1285del | ClinVar |
2 | g.202514846del | CA2662705495 | BMPR2 | c.530-42del (n.530-42del) c.461-42del (n.461-42del) | gnomAD v4 |
2 | g.202514845T>A | CA2577215566 | BMPR2 | c.530-43T>A (n.530-43T>A) c.461-43T>A (n.461-43T>A) | |
2 | g.202514849G>A | CA2662705497 | BMPR2 | c.530-39G>A (n.530-39G>A) c.461-39G>A (n.461-39G>A) | gnomAD v4 |
2 | g.202514851A= | CA1321537817 | BMPR2 | c.530-37A= (n.530-37A=) c.461-37A= (n.461-37A=) | |
2 | g.202514851A>G | CA538970634 | BMPR2 | c.530-37A>G (n.530-37A>G) c.461-37A>G (n.461-37A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514852A>G | CA2662705498 | BMPR2 | c.530-36A>G (n.530-36A>G) c.461-36A>G (n.461-36A>G) | gnomAD v4 |
2 | g.202514853A>G | CA2662705499 | BMPR2 | c.530-35A>G (n.530-35A>G) c.461-35A>G (n.461-35A>G) | gnomAD v4 |
2 | g.202514856A= | CA1321537818 | BMPR2 | c.530-32A= (n.530-32A=) c.461-32A= (n.461-32A=) | |
2 | g.202514856A>G | CA2061141 | BMPR2 | c.530-32A>G (n.530-32A>G) c.461-32A>G (n.461-32A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514857T>C | CA1041339653 | BMPR2 | c.530-31T>C (n.530-31T>C) c.461-31T>C (n.461-31T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514857T= | CA1321537819 | BMPR2 | c.530-31T= (n.530-31T=) c.461-31T= (n.461-31T=) | |
2 | g.202514858A>T | CA2662705500 | BMPR2 | c.530-30A>T (n.530-30A>T) c.461-30A>T (n.461-30A>T) | gnomAD v4 |
2 | g.202514859T>A | CA2662705501 | BMPR2 | c.530-29T>A (n.530-29T>A) c.461-29T>A (n.461-29T>A) | gnomAD v4 |
2 | g.202514859T>C | CA1321537821 | BMPR2 | c.530-29T>C (n.530-29T>C) c.461-29T>C (n.461-29T>C) | dbSNP gnomAD v4 |
2 | g.202514859T= | CA1321537820 | BMPR2 | c.530-29T= (n.530-29T=) c.461-29T= (n.461-29T=) | |
2 | g.202514860A= | CA1321537822 | BMPR2 | c.530-28A= (n.530-28A=) c.461-28A= (n.461-28A=) | |
2 | g.202514860A>G | CA763445963 | BMPR2 | c.530-28A>G (n.530-28A>G) c.461-28A>G (n.461-28A>G) | dbSNP gnomAD v4 |
2 | g.202514862T>G | CA763445964 | BMPR2 | c.530-26T>G (n.530-26T>G) c.461-26T>G (n.461-26T>G) | dbSNP |
2 | g.202514862T= | CA1321537823 | BMPR2 | c.530-26T= (n.530-26T=) c.461-26T= (n.461-26T=) | |
2 | g.202514864G>C | CA538970636 | BMPR2 | c.530-24G>C (n.530-24G>C) c.461-24G>C (n.461-24G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514864G= | CA1321537824 | BMPR2 | c.530-24G= (n.530-24G=) c.461-24G= (n.461-24G=) | |
2 | g.202514864G>T | CA1041339655 | BMPR2 | c.530-24G>T (n.530-24G>T) c.461-24G>T (n.461-24G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514865T>G | CA763445965 | BMPR2 | c.530-23T>G (n.530-23T>G) c.461-23T>G (n.461-23T>G) | dbSNP |
2 | g.202514865T= | CA1321537825 | BMPR2 | c.530-23T= (n.530-23T=) c.461-23T= (n.461-23T=) | |
2 | g.202514867del | CA2577215567 | BMPR2 | c.530-21del (n.530-21del) c.461-21del (n.461-21del) | |
2 | g.202514869C>A | CA2662705502 | BMPR2 | c.530-19C>A (n.530-19C>A) c.461-19C>A (n.461-19C>A) | gnomAD v4 |
2 | g.202514869C= | CA1321537826 | BMPR2 | c.530-19C= (n.530-19C=) c.461-19C= (n.461-19C=) | |
2 | g.202514869C>T | CA2061142 | BMPR2 | c.530-19C>T (n.530-19C>T) c.461-19C>T (n.461-19C>T) | dbSNP ExAC gnomAD v2 |
2 | g.202514869_202514870delinsCT | CA1321537827 | BMPR2 | c.530-19_530-18delinsCT (n.530-19_530-18delinsCT) c.461-19_461-18delinsCT (n.461-19_461-18delinsCT) | |
2 | g.202514870del | CA538970637 | BMPR2 | c.530-18del (n.530-18del) c.461-18del (n.461-18del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514870T>G | CA2662705503 | BMPR2 | c.530-18T>G (n.530-18T>G) c.461-18T>G (n.461-18T>G) | gnomAD v4 |
2 | g.202514871G>T | CA2577215568 | BMPR2 | c.530-17G>T (n.530-17G>T) c.461-17G>T (n.461-17G>T) | |
2 | g.202514871_202514872delinsGT | CA1321537828 | BMPR2 | c.530-17_530-16delinsGT (n.530-17_530-16delinsGT) c.461-17_461-16delinsGT (n.461-17_461-16delinsGT) | |
2 | g.202514874del | CA763445980 | BMPR2 | c.530-14del (n.530-14del) c.461-14del (n.461-14del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514873T>G | CA2577215569 | BMPR2 | c.530-15T>G (n.530-15T>G) c.461-15T>G (n.461-15T>G) | gnomAD v4 |
2 | g.202514874T>A | CA538970642 | BMPR2 | c.530-14T>A (n.530-14T>A) c.461-14T>A (n.461-14T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514874T>C | CA2061143 | BMPR2 | c.530-14T>C (n.530-14T>C) c.461-14T>C (n.461-14T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514874T= | CA1321537829 | BMPR2 | c.530-14T= (n.530-14T=) c.461-14T= (n.461-14T=) | |
2 | g.202514875C>A | CA538970648 | BMPR2 | c.530-13C>A (n.530-13C>A) c.461-13C>A (n.461-13C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514875C= | CA1321537830 | BMPR2 | c.530-13C= (n.530-13C=) c.461-13C= (n.461-13C=) | |
2 | g.202514878G>A | CA763445998 | BMPR2 | c.530-10G>A (n.530-10G>A) c.461-10G>A (n.461-10G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514878G= | CA1321537831 | BMPR2 | c.530-10G= (n.530-10G=) c.461-10G= (n.461-10G=) | |
2 | g.202514880T>A | CA1321537833 | BMPR2 | c.530-8T>A (n.530-8T>A) c.461-8T>A (n.461-8T>A) | dbSNP |
2 | g.202514880T= | CA1321537832 | BMPR2 | c.530-8T= (n.530-8T=) c.461-8T= (n.461-8T=) | |
2 | g.202514881C>A | CA64012780 | BMPR2 | c.530-7C>A (n.530-7C>A) c.461-7C>A (n.461-7C>A) | dbSNP |
2 | g.202514881C= | CA1321537834 | BMPR2 | c.530-7C= (n.530-7C=) c.461-7C= (n.461-7C=) | |
2 | g.202514881C>T | CA2061144 | BMPR2 | c.530-7C>T (n.530-7C>T) c.461-7C>T (n.461-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202514882T>C | CA2701465434 | BMPR2 | c.530-6T>C (n.530-6T>C) c.461-6T>C (n.461-6T>C) | dbSNP |
2 | g.202514882_202514883del | CA2662705504 | BMPR2 | c.530-6_530-5del (n.530-6_530-5del) c.461-6_461-5del (n.461-6_461-5del) | gnomAD v4 |
2 | g.202514884A= | CA1321537835 | BMPR2 | c.530-4A= (n.530-4A=) c.461-4A= (n.461-4A=) | |
2 | g.202514884A>C | CA2577215571 | BMPR2 | c.530-4A>C (n.530-4A>C) c.461-4A>C (n.461-4A>C) | |
2 | g.202514884A>G | CA64012781 | BMPR2 | c.530-4A>G (n.530-4A>G) c.461-4A>G (n.461-4A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514884dup | CA2577215570 | BMPR2 | c.530-4dup (n.530-4dup) c.461-4dup (n.461-4dup) | |
2 | g.202514885T>C | CA763446004 | BMPR2 | c.530-3T>C (n.530-3T>C) c.461-3T>C (n.461-3T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514885T= | CA1321537836 | BMPR2 | c.530-3T= (n.530-3T=) c.461-3T= (n.461-3T=) | |
2 | g.202514886A>C | CA350338618 | BMPR2 | c.530-2A>C (n.530-2A>C) c.461-2A>C (n.461-2A>C) | |
2 | g.202514886A>G | CA350338620 | BMPR2 | c.530-2A>G (n.530-2A>G) c.461-2A>G (n.461-2A>G) | ClinVar dbSNP |
2 | g.202514886A>T | CA350338623 | BMPR2 | c.530-2A>T (n.530-2A>T) c.461-2A>T (n.461-2A>T) | COSMIC |
2 | g.202514886_202514887insCTGT | CA2662705505 | BMPR2 | c.530-2_530-1insCTGT (n.530-2_530-1insCTGT) c.461-2_461-1insCTGT (n.461-2_461-1insCTGT) | gnomAD v4 |
2 | g.202514887G>A | CA350338627 | BMPR2 | c.530-1G>A (n.530-1G>A) c.461-1G>A (n.461-1G>A) | |
2 | g.202514887G>C | CA350338628 | BMPR2 | c.530-1G>C (n.530-1G>C) c.461-1G>C (n.461-1G>C) | |
2 | g.202514887G>T | CA350338629 | BMPR2 | c.530-1G>T (n.530-1G>T) c.461-1G>T (n.461-1G>T) | |
2 | g.202514888G>A | CA350338638 | BMPR2 | c.530G>A (p.Gly177Glu) c.461G>A (p.Gly154Glu) | gnomAD v4 |
2 | g.202514888G>C | CA350338633 | BMPR2 | c.530G>C (p.Gly177Ala) c.461G>C (p.Gly154Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514888G= | CA1321537837 | BMPR2 | c.530G= (p.Gly177=) c.461G= (p.Gly154=) | |
2 | g.202514888G>T | CA350338636 | BMPR2 | c.530G>T (p.Gly177Val) c.461G>T (p.Gly154Val) | |
2 | g.202514889A= | CA1321537838 | BMPR2 | c.531A= (p.Gly177=) c.462A= (p.Gly154=) | |
2 | g.202514889A>C | CA430838524 | BMPR2 | c.531A>C (p.Gly177=) c.462A>C (p.Gly154=) | |
2 | g.202514889A>G | CA430838525 | BMPR2 | c.531A>G (p.Gly177=) c.462A>G (p.Gly154=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514889A>T | CA430838526 | BMPR2 | c.531A>T (p.Gly177=) c.462A>T (p.Gly154=) | |
2 | g.202514890G>A | CA350338641 | BMPR2 | c.532G>A (p.Asp178Asn) c.463G>A (p.Asp155Asn) | dbSNP gnomAD v2 |
2 | g.202514890G>C | CA350338644 | BMPR2 | c.532G>C (p.Asp178His) c.463G>C (p.Asp155His) | |
2 | g.202514890G= | CA1321537839 | BMPR2 | c.532G= (p.Asp178=) c.463G= (p.Asp155=) | |
2 | g.202514890G>T | CA350338646 | BMPR2 | c.532G>T (p.Asp178Tyr) c.463G>T (p.Asp155Tyr) | |
2 | g.202514891_202514894dup | CA915941639 | BMPR2 | c.533_536dup (p.Lys180ProfsTer2) c.464_467dup (p.Lys157ProfsTer2) | ClinVar dbSNP |
2 | g.202514891A>C | CA350338649 | BMPR2 | c.533A>C (p.Asp178Ala) c.464A>C (p.Asp155Ala) | |
2 | g.202514891A>G | CA350338652 | BMPR2 | c.533A>G (p.Asp178Gly) c.464A>G (p.Asp155Gly) | |
2 | g.202514891A>T | CA350338654 | BMPR2 | c.533A>T (p.Asp178Val) c.464A>T (p.Asp155Val) | |
2 | g.202514892C>A | CA350338659 | BMPR2 | c.534C>A (p.Asp178Glu) c.465C>A (p.Asp155Glu) | |
2 | g.202514892C>G | CA350338656 | BMPR2 | c.534C>G (p.Asp178Glu) c.465C>G (p.Asp155Glu) | |
2 | g.202514892C>T | CA430838530 | BMPR2 | c.534C>T (p.Asp178=) c.465C>T (p.Asp155=) | |
2 | g.202514893C>A | CA350338661 | BMPR2 | c.535C>A (p.Arg179Ser) c.466C>A (p.Arg156Ser) | |
2 | g.202514893C>G | CA350338664 | BMPR2 | c.535C>G (p.Arg179Gly) c.466C>G (p.Arg156Gly) | |
2 | g.202514893C>T | CA350338667 | BMPR2 | c.535C>T (p.Arg179Cys) c.466C>T (p.Arg156Cys) | gnomAD v4 COSMIC |
2 | g.202514894G>A | CA2061145 | BMPR2 | c.536G>A (p.Arg179His) c.467G>A (p.Arg156His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.202514894G>C | CA350338671 | BMPR2 | c.536G>C (p.Arg179Pro) c.467G>C (p.Arg156Pro) | gnomAD v4 |
2 | g.202514894G= | CA1321537840 | BMPR2 | c.536G= (p.Arg179=) c.467G= (p.Arg156=) | |
2 | g.202514894G>T | CA350338673 | BMPR2 | c.536G>T (p.Arg179Leu) c.467G>T (p.Arg156Leu) | |
2 | g.202514895T>A | CA430838534 | BMPR2 | c.537T>A (p.Arg179=) c.468T>A (p.Arg156=) | |
2 | g.202514895T>C | CA430838533 | BMPR2 | c.537T>C (p.Arg179=) c.468T>C (p.Arg156=) | gnomAD v4 |
2 | g.202514895T>G | CA430838532 | BMPR2 | c.537T>G (p.Arg179=) c.468T>G (p.Arg156=) | |
2 | g.202514896A= | CA1321537841 | BMPR2 | c.538A= (p.Lys180=) c.469A= (p.Lys157=) | |
2 | g.202514896A>C | CA2061146 | BMPR2 | c.538A>C (p.Lys180Gln) c.469A>C (p.Lys157Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202514896A>G | CA350338677 | BMPR2 | c.538A>G (p.Lys180Glu) c.469A>G (p.Lys157Glu) | |
2 | g.202514896A>T | CA350338680 | BMPR2 | c.538A>T (p.Lys180Ter) c.469A>T (p.Lys157Ter) | |
2 | g.202514897A= | CA1321537842 | BMPR2 | c.539A= (p.Lys180=) c.470A= (p.Lys157=) | |
2 | g.202514897A>C | CA350338685 | BMPR2 | c.539A>C (p.Lys180Thr) c.470A>C (p.Lys157Thr) | |
2 | g.202514897A>G | CA350338686 | BMPR2 | c.539A>G (p.Lys180Arg) c.470A>G (p.Lys157Arg) | |
2 | g.202514897A>T | CA350338688 | BMPR2 | c.539A>T (p.Lys180Ile) c.470A>T (p.Lys157Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514898A= | CA1321537843 | BMPR2 | c.540A= (p.Lys180=) c.471A= (p.Lys157=) | |
2 | g.202514898A>C | CA350338691 | BMPR2 | c.540A>C (p.Lys180Asn) c.471A>C (p.Lys157Asn) | |
2 | g.202514898A>G | CA430838535 | BMPR2 | c.540A>G (p.Lys180=) c.471A>G (p.Lys157=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514898A>T | CA350338694 | BMPR2 | c.540A>T (p.Lys180Asn) c.471A>T (p.Lys157Asn) | |
2 | g.202514899C>A | CA350338696 | BMPR2 | c.541C>A (p.Gln181Lys) c.472C>A (p.Gln158Lys) | COSMIC |
2 | g.202514899C= | CA1321537844 | BMPR2 | c.541C= (p.Gln181=) c.472C= (p.Gln158=) | |
2 | g.202514899C>G | CA350338698 | BMPR2 | c.541C>G (p.Gln181Glu) c.472C>G (p.Gln158Glu) | |
2 | g.202514899C>T | CA350338700 | BMPR2 | c.541C>T (p.Gln181Ter) c.472C>T (p.Gln158Ter) | ClinVar dbSNP |
2 | g.202514900A= | CA1321537845 | BMPR2 | c.542A= (p.Gln181=) c.473A= (p.Gln158=) | |
2 | g.202514900A>C | CA350338702 | BMPR2 | c.542A>C (p.Gln181Pro) c.473A>C (p.Gln158Pro) | |
2 | g.202514900A>G | CA350338705 | BMPR2 | c.542A>G (p.Gln181Arg) c.473A>G (p.Gln158Arg) | dbSNP gnomAD v4 |
2 | g.202514900A>T | CA350338708 | BMPR2 | c.542A>T (p.Gln181Leu) c.473A>T (p.Gln158Leu) | |
2 | g.202514901A>C | CA350338712 | BMPR2 | c.543A>C (p.Gln181His) c.474A>C (p.Gln158His) | |
2 | g.202514901A>G | CA430838539 | BMPR2 | c.543A>G (p.Gln181=) c.474A>G (p.Gln158=) | |
2 | g.202514901A>T | CA350338715 | BMPR2 | c.543A>T (p.Gln181His) c.474A>T (p.Gln158His) | |
2 | g.202514901_202514902del | CA2586971004 | BMPR2 | c.543_544del (p.Gly182SerfsTer17) c.474_475del (p.Gly159SerfsTer17) | |
2 | g.202514902G>A | CA350338723 | BMPR2 | c.544G>A (p.Gly182Ser) c.475G>A (p.Gly159Ser) | dbSNP gnomAD v4 |
2 | g.202514902G>C | CA350338719 | BMPR2 | c.544G>C (p.Gly182Arg) c.475G>C (p.Gly159Arg) | |
2 | g.202514902G= | CA1321537846 | BMPR2 | c.544G= (p.Gly182=) c.475G= (p.Gly159=) | |
2 | g.202514902G>T | CA350338720 | BMPR2 | c.544G>T (p.Gly182Cys) c.475G>T (p.Gly159Cys) | |
2 | g.202514903G>A | CA119936 | BMPR2 | c.545G>A (p.Gly182Asp) c.476G>A (p.Gly159Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514903G>C | CA350338728 | BMPR2 | c.545G>C (p.Gly182Ala) c.476G>C (p.Gly159Ala) | |
2 | g.202514903G= | CA1321537847 | BMPR2 | c.545G= (p.Gly182=) c.476G= (p.Gly159=) | |
2 | g.202514903G>T | CA350338730 | BMPR2 | c.545G>T (p.Gly182Val) c.476G>T (p.Gly159Val) | |
2 | g.202514904T>A | CA430838542 | BMPR2 | c.546T>A (p.Gly182=) c.477T>A (p.Gly159=) | |
2 | g.202514904T>C | CA430838543 | BMPR2 | c.546T>C (p.Gly182=) c.477T>C (p.Gly159=) | |
2 | g.202514904T>G | CA430838544 | BMPR2 | c.546T>G (p.Gly182=) c.477T>G (p.Gly159=) | |
2 | g.202514905C>A | CA350338733 | BMPR2 | c.547C>A (p.Leu183Ile) c.478C>A (p.Leu160Ile) | |
2 | g.202514905C= | CA1321537848 | BMPR2 | c.547C= (p.Leu183=) c.478C= (p.Leu160=) | |
2 | g.202514905C>G | CA350338736 | BMPR2 | c.547C>G (p.Leu183Val) c.478C>G (p.Leu160Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514905C>T | CA350338738 | BMPR2 | c.547C>T (p.Leu183Phe) c.478C>T (p.Leu160Phe) | |
2 | g.202514906T>A | CA350338743 | BMPR2 | c.548T>A (p.Leu183His) c.479T>A (p.Leu160His) | |
2 | g.202514906T>C | CA350338744 | BMPR2 | c.548T>C (p.Leu183Pro) c.479T>C (p.Leu160Pro) | |
2 | g.202514906T>G | CA350338746 | BMPR2 | c.548T>G (p.Leu183Arg) c.479T>G (p.Leu160Arg) | |
2 | g.202514907T>A | CA430838547 | BMPR2 | c.549T>A (p.Leu183=) c.480T>A (p.Leu160=) | |
2 | g.202514907T>C | CA2061147 | BMPR2 | c.549T>C (p.Leu183=) c.480T>C (p.Leu160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514907T>G | CA430838548 | BMPR2 | c.549T>G (p.Leu183=) c.480T>G (p.Leu160=) | |
2 | g.202514907T= | CA1321537849 | BMPR2 | c.549T= (p.Leu183=) c.480T= (p.Leu160=) | |
2 | g.202514908C>A | CA350338751 | BMPR2 | c.550C>A (p.His184Asn) c.481C>A (p.His161Asn) | |
2 | g.202514908C= | CA1321537851 | BMPR2 | c.550C= (p.His184=) c.481C= (p.His161=) | |
2 | g.202514908C>G | CA350338754 | BMPR2 | c.550C>G (p.His184Asp) c.481C>G (p.His161Asp) | |
2 | g.202514908C>T | CA350338757 | BMPR2 | c.550C>T (p.His184Tyr) c.481C>T (p.His161Tyr) | dbSNP |
2 | g.202514908_202514931delinsCACAGTATGAACATGATGGAGGCA | CA1321537850 | BMPR2 | c.550_573delinsCACAGTATGAACATGATGGAGGCA (p.His184=) c.481_504delinsCACAGTATGAACATGATGGAGGCA (p.His161=) | |
2 | g.202514909A>C | CA350338765 | BMPR2 | c.551A>C (p.His184Pro) c.482A>C (p.His161Pro) | |
2 | g.202514909A>G | CA350338763 | BMPR2 | c.551A>G (p.His184Arg) c.482A>G (p.His161Arg) | |
2 | g.202514909A>T | CA350338761 | BMPR2 | c.551A>T (p.His184Leu) c.482A>T (p.His161Leu) | |
2 | g.202514909dup | CA2586971005 | BMPR2 | c.551dup (p.His184GlnfsTer16) c.482dup (p.His161GlnfsTer16) | |
2 | g.202514909_202514931del | CA645293805 | BMPR2 | c.551_573del (p.His184ArgfsTer8) c.482_504del (p.His161ArgfsTer8) | ClinVar dbSNP |
2 | g.202514910C>A | CA350338767 | BMPR2 | c.552C>A (p.His184Gln) c.483C>A (p.His161Gln) | |
2 | g.202514910C>G | CA350338770 | BMPR2 | c.552C>G (p.His184Gln) c.483C>G (p.His161Gln) | |
2 | g.202514910C>T | CA430838549 | BMPR2 | c.552C>T (p.His184=) c.483C>T (p.His161=) | |
2 | g.202514911A= | CA1321537852 | BMPR2 | c.553A= (p.Ser185=) c.484A= (p.Ser162=) | |
2 | g.202514911A>C | CA350338774 | BMPR2 | c.553A>C (p.Ser185Arg) c.484A>C (p.Ser162Arg) | |
2 | g.202514911A>G | CA350338775 | BMPR2 | c.553A>G (p.Ser185Gly) c.484A>G (p.Ser162Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514911A>T | CA350338778 | BMPR2 | c.553A>T (p.Ser185Cys) c.484A>T (p.Ser162Cys) | |
2 | g.202514912G>A | CA350338782 | BMPR2 | c.554G>A (p.Ser185Asn) c.485G>A (p.Ser162Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514912G>C | CA350338785 | BMPR2 | c.554G>C (p.Ser185Thr) c.485G>C (p.Ser162Thr) | |
2 | g.202514912G= | CA1321537853 | BMPR2 | c.554G= (p.Ser185=) c.485G= (p.Ser162=) | |
2 | g.202514912G>T | CA350338787 | BMPR2 | c.554G>T (p.Ser185Ile) c.485G>T (p.Ser162Ile) | dbSNP |
2 | g.202514913T>A | CA350338789 | BMPR2 | c.555T>A (p.Ser185Arg) c.486T>A (p.Ser162Arg) | |
2 | g.202514913T>C | CA430838550 | BMPR2 | c.555T>C (p.Ser185=) c.486T>C (p.Ser162=) | |
2 | g.202514913T>G | CA350338792 | BMPR2 | c.555T>G (p.Ser185Arg) c.486T>G (p.Ser162Arg) | |
2 | g.202514914A= | CA1321537854 | BMPR2 | c.556A= (p.Met186=) c.487A= (p.Met163=) | |
2 | g.202514914A>C | CA350338795 | BMPR2 | c.556A>C (p.Met186Leu) c.487A>C (p.Met163Leu) | |
2 | g.202514914A>G | CA350338798 | BMPR2 | c.556A>G (p.Met186Val) c.487A>G (p.Met163Val) | ClinVar dbSNP |
2 | g.202514914A>T | CA350338799 | BMPR2 | c.556A>T (p.Met186Leu) c.487A>T (p.Met163Leu) | |
2 | g.202514915T>A | CA350338804 | BMPR2 | c.557T>A (p.Met186Lys) c.488T>A (p.Met163Lys) | |
2 | g.202514915T>C | CA350338807 | BMPR2 | c.557T>C (p.Met186Thr) c.488T>C (p.Met163Thr) | |
2 | g.202514915T>G | CA350338802 | BMPR2 | c.557T>G (p.Met186Arg) c.488T>G (p.Met163Arg) | |
2 | g.202514916G>A | CA350338810 | BMPR2 | c.558G>A (p.Met186Ile) c.489G>A (p.Met163Ile) | |
2 | g.202514916G>C | CA350338813 | BMPR2 | c.558G>C (p.Met186Ile) c.489G>C (p.Met163Ile) | |
2 | g.202514916G>T | CA350338811 | BMPR2 | c.558G>T (p.Met186Ile) c.489G>T (p.Met163Ile) | COSMIC |
2 | g.202514917A>C | CA350338817 | BMPR2 | c.559A>C (p.Asn187His) c.490A>C (p.Asn164His) | |
2 | g.202514917A>G | CA350338818 | BMPR2 | c.559A>G (p.Asn187Asp) c.490A>G (p.Asn164Asp) | |
2 | g.202514917A>T | CA350338820 | BMPR2 | c.559A>T (p.Asn187Tyr) c.490A>T (p.Asn164Tyr) | |
2 | g.202514918A>C | CA350338823 | BMPR2 | c.560A>C (p.Asn187Thr) c.491A>C (p.Asn164Thr) | |
2 | g.202514918A>G | CA350338825 | BMPR2 | c.560A>G (p.Asn187Ser) c.491A>G (p.Asn164Ser) | |
2 | g.202514918A>T | CA350338827 | BMPR2 | c.560A>T (p.Asn187Ile) c.491A>T (p.Asn164Ile) | |
2 | g.202514919C>A | CA350338828 | BMPR2 | c.561C>A (p.Asn187Lys) c.492C>A (p.Asn164Lys) | |
2 | g.202514919C>G | CA350338831 | BMPR2 | c.561C>G (p.Asn187Lys) c.492C>G (p.Asn164Lys) | |
2 | g.202514919C>T | CA430838557 | BMPR2 | c.561C>T (p.Asn187=) c.492C>T (p.Asn164=) | |
2 | g.202514920A= | CA1321537855 | BMPR2 | c.562A= (p.Met188=) c.493A= (p.Met165=) | |
2 | g.202514920A>C | CA350338836 | BMPR2 | c.562A>C (p.Met188Leu) c.493A>C (p.Met165Leu) | |
2 | g.202514920A>G | CA350338837 | BMPR2 | c.562A>G (p.Met188Val) c.493A>G (p.Met165Val) | dbSNP |
2 | g.202514920A>T | CA350338840 | BMPR2 | c.562A>T (p.Met188Leu) c.493A>T (p.Met165Leu) | |
2 | g.202514921T>A | CA350338848 | BMPR2 | c.563T>A (p.Met188Lys) c.494T>A (p.Met165Lys) | gnomAD v4 |
2 | g.202514921T>C | CA2061148 | BMPR2 | c.563T>C (p.Met188Thr) c.494T>C (p.Met165Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514921T>G | CA350338843 | BMPR2 | c.563T>G (p.Met188Arg) c.494T>G (p.Met165Arg) | |
2 | g.202514921T= | CA1321537856 | BMPR2 | c.563T= (p.Met188=) c.494T= (p.Met165=) | |
2 | g.202514922G>A | CA350338852 | BMPR2 | c.564G>A (p.Met188Ile) c.495G>A (p.Met165Ile) | |
2 | g.202514922G>C | CA350338854 | BMPR2 | c.564G>C (p.Met188Ile) c.495G>C (p.Met165Ile) | |
2 | g.202514922G>T | CA350338857 | BMPR2 | c.564G>T (p.Met188Ile) c.495G>T (p.Met165Ile) | |
2 | g.202514923A>C | CA350338861 | BMPR2 | c.565A>C (p.Met189Leu) c.496A>C (p.Met166Leu) | |
2 | g.202514923A>G | CA350338864 | BMPR2 | c.565A>G (p.Met189Val) c.496A>G (p.Met166Val) | |
2 | g.202514923A>T | CA350338866 | BMPR2 | c.565A>T (p.Met189Leu) c.496A>T (p.Met166Leu) | |
2 | g.202514924T>A | CA2061149 | BMPR2 | c.566T>A (p.Met189Lys) c.497T>A (p.Met166Lys) | dbSNP ExAC gnomAD v2 |
2 | g.202514924T>C | CA350338874 | BMPR2 | c.566T>C (p.Met189Thr) c.497T>C (p.Met166Thr) | |
2 | g.202514924T>G | CA350338877 | BMPR2 | c.566T>G (p.Met189Arg) c.497T>G (p.Met166Arg) | gnomAD v4 |
2 | g.202514924T= | CA1321537857 | BMPR2 | c.566T= (p.Met189=) c.497T= (p.Met166=) | |
2 | g.202514925G>A | CA350338880 | BMPR2 | c.567G>A (p.Met189Ile) c.498G>A (p.Met166Ile) | |
2 | g.202514925G>C | CA350338882 | BMPR2 | c.567G>C (p.Met189Ile) c.498G>C (p.Met166Ile) | |
2 | g.202514925G>T | CA350338885 | BMPR2 | c.567G>T (p.Met189Ile) c.498G>T (p.Met166Ile) | |
2 | g.202514926G>A | CA350338892 | BMPR2 | c.568G>A (p.Glu190Lys) c.499G>A (p.Glu167Lys) | |
2 | g.202514926G>C | CA350338890 | BMPR2 | c.568G>C (p.Glu190Gln) c.499G>C (p.Glu167Gln) | |
2 | g.202514926G>T | CA350338888 | BMPR2 | c.568G>T (p.Glu190Ter) c.499G>T (p.Glu167Ter) | |
2 | g.202514927A>C | CA350338896 | BMPR2 | c.569A>C (p.Glu190Ala) c.500A>C (p.Glu167Ala) | |
2 | g.202514927A>G | CA350338899 | BMPR2 | c.569A>G (p.Glu190Gly) c.500A>G (p.Glu167Gly) | gnomAD v4 |
2 | g.202514927A>T | CA350338901 | BMPR2 | c.569A>T (p.Glu190Val) c.500A>T (p.Glu167Val) | |
2 | g.202514928G>A | CA430838561 | BMPR2 | c.570G>A (p.Glu190=) c.501G>A (p.Glu167=) | |
2 | g.202514928G>C | CA350338905 | BMPR2 | c.570G>C (p.Glu190Asp) c.501G>C (p.Glu167Asp) | |
2 | g.202514928G= | CA1321537858 | BMPR2 | c.570G= (p.Glu190=) c.501G= (p.Glu167=) | |
2 | g.202514928G>T | CA350338907 | BMPR2 | c.570G>T (p.Glu190Asp) c.501G>T (p.Glu167Asp) | |
2 | g.202514929G>A | CA2061151 | BMPR2 | c.571G>A (p.Ala191Thr) c.502G>A (p.Ala168Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202514929G>C | CA350338916 | BMPR2 | c.571G>C (p.Ala191Pro) c.502G>C (p.Ala168Pro) | |
2 | g.202514929G= | CA1321537859 | BMPR2 | c.571G= (p.Ala191=) c.502G= (p.Ala168=) | |
2 | g.202514929G>T | CA350338918 | BMPR2 | c.571G>T (p.Ala191Ser) c.502G>T (p.Ala168Ser) | |
2 | g.202514935_202514937dup | CA2061150 | BMPR2 | c.577_579dup (p.Ala193_Ser194insAla) c.508_510dup (p.Ala170_Ser171insAla) | dbSNP ExAC gnomAD v2 |
2 | g.202514930C>A | CA350338920 | BMPR2 | c.572C>A (p.Ala191Glu) c.503C>A (p.Ala168Glu) | |
2 | g.202514930C>G | CA350338923 | BMPR2 | c.572C>G (p.Ala191Gly) c.503C>G (p.Ala168Gly) | |
2 | g.202514930C>T | CA350338926 | BMPR2 | c.572C>T (p.Ala191Val) c.503C>T (p.Ala168Val) | |
2 | g.202514931A>C | CA430838565 | BMPR2 | c.573A>C (p.Ala191=) c.504A>C (p.Ala168=) | gnomAD v4 |
2 | g.202514931A>G | CA430838566 | BMPR2 | c.573A>G (p.Ala191=) c.504A>G (p.Ala168=) | gnomAD v4 |
2 | g.202514931A>T | CA430838567 | BMPR2 | c.573A>T (p.Ala191=) c.504A>T (p.Ala168=) | |
2 | g.202514932G>A | CA350338933 | BMPR2 | c.574G>A (p.Ala192Thr) c.505G>A (p.Ala169Thr) | |
2 | g.202514932G>C | CA350338931 | BMPR2 | c.574G>C (p.Ala192Pro) c.505G>C (p.Ala169Pro) | |
2 | g.202514932G>T | CA350338930 | BMPR2 | c.574G>T (p.Ala192Ser) c.505G>T (p.Ala169Ser) | |
2 | g.202514933C>A | CA350338938 | BMPR2 | c.575C>A (p.Ala192Glu) c.506C>A (p.Ala169Glu) | |
2 | g.202514933C>G | CA350338940 | BMPR2 | c.575C>G (p.Ala192Gly) c.506C>G (p.Ala169Gly) | gnomAD v4 |
2 | g.202514933C>T | CA350338943 | BMPR2 | c.575C>T (p.Ala192Val) c.506C>T (p.Ala169Val) | gnomAD v4 |
2 | g.202514934A= | CA1321537860 | BMPR2 | c.576A= (p.Ala192=) c.507A= (p.Ala169=) | |
2 | g.202514934A>C | CA430838569 | BMPR2 | c.576A>C (p.Ala192=) c.507A>C (p.Ala169=) | gnomAD v4 |
2 | g.202514934A>G | CA430838570 | BMPR2 | c.576A>G (p.Ala192=) c.507A>G (p.Ala169=) | dbSNP COSMIC |
2 | g.202514934A>T | CA430838571 | BMPR2 | c.576A>T (p.Ala192=) c.507A>T (p.Ala169=) | |
2 | g.202514935G>A | CA350338947 | BMPR2 | c.577G>A (p.Ala193Thr) c.508G>A (p.Ala170Thr) | gnomAD v4 |
2 | g.202514935G>C | CA350338950 | BMPR2 | c.577G>C (p.Ala193Pro) c.508G>C (p.Ala170Pro) | |
2 | g.202514935G>T | CA350338953 | BMPR2 | c.577G>T (p.Ala193Ser) c.508G>T (p.Ala170Ser) | |
2 | g.202514936C>A | CA350338956 | BMPR2 | c.578C>A (p.Ala193Glu) c.509C>A (p.Ala170Glu) | |
2 | g.202514936C>G | CA350338958 | BMPR2 | c.578C>G (p.Ala193Gly) c.509C>G (p.Ala170Gly) | gnomAD v4 |
2 | g.202514936C>T | CA350338960 | BMPR2 | c.578C>T (p.Ala193Val) c.509C>T (p.Ala170Val) | gnomAD v4 |
2 | g.202514937A>C | CA430838572 | BMPR2 | c.579A>C (p.Ala193=) c.510A>C (p.Ala170=) | |
2 | g.202514937A>G | CA430838573 | BMPR2 | c.579A>G (p.Ala193=) c.510A>G (p.Ala170=) | |
2 | g.202514937A>T | CA430838574 | BMPR2 | c.579A>T (p.Ala193=) c.510A>T (p.Ala170=) | |
2 | g.202514938T>A | CA350338964 | BMPR2 | c.580T>A (p.Ser194Thr) c.511T>A (p.Ser171Thr) | |
2 | g.202514938T>C | CA350338966 | BMPR2 | c.580T>C (p.Ser194Pro) c.511T>C (p.Ser171Pro) | |
2 | g.202514938T>G | CA350338969 | BMPR2 | c.580T>G (p.Ser194Ala) c.511T>G (p.Ser171Ala) | |
2 | g.202514939C>A | CA350338972 | BMPR2 | c.581C>A (p.Ser194Tyr) c.512C>A (p.Ser171Tyr) | |
2 | g.202514939C= | CA1321537861 | BMPR2 | c.581C= (p.Ser194=) c.512C= (p.Ser171=) | |
2 | g.202514939C>G | CA350338975 | BMPR2 | c.581C>G (p.Ser194Cys) c.512C>G (p.Ser171Cys) | dbSNP gnomAD v4 |
2 | g.202514939C>T | CA2061152 | BMPR2 | c.581C>T (p.Ser194Phe) c.512C>T (p.Ser171Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202514940C>A | CA430838579 | BMPR2 | c.582C>A (p.Ser194=) c.513C>A (p.Ser171=) | |
2 | g.202514940C= | CA1321537862 | BMPR2 | c.582C= (p.Ser194=) c.513C= (p.Ser171=) | |
2 | g.202514940C>G | CA430838578 | BMPR2 | c.582C>G (p.Ser194=) c.513C>G (p.Ser171=) | |
2 | g.202514940C>T | CA2061153 | BMPR2 | c.582C>T (p.Ser194=) c.513C>T (p.Ser171=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202514941G>A | CA2061154 | BMPR2 | c.583G>A (p.Glu195Lys) c.514G>A (p.Glu172Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.202514941G>C | CA350338983 | BMPR2 | c.583G>C (p.Glu195Gln) c.514G>C (p.Glu172Gln) | |
2 | g.202514941G= | CA1321537863 | BMPR2 | c.583G= (p.Glu195=) c.514G= (p.Glu172=) | |
2 | g.202514941G>T | CA130278 | BMPR2 | c.583G>T (p.Glu195Ter) c.514G>T (p.Glu172Ter) | ClinVar dbSNP |
2 | g.202514942A>C | CA350338990 | BMPR2 | c.584A>C (p.Glu195Ala) c.515A>C (p.Glu172Ala) | |
2 | g.202514942A>G | CA350338994 | BMPR2 | c.584A>G (p.Glu195Gly) c.515A>G (p.Glu172Gly) | |
2 | g.202514942A>T | CA350338993 | BMPR2 | c.584A>T (p.Glu195Val) c.515A>T (p.Glu172Val) | |
2 | g.202514943A>C | CA350338997 | BMPR2 | c.585A>C (p.Glu195Asp) c.516A>C (p.Glu172Asp) | gnomAD v4 |
2 | g.202514943A>G | CA430838583 | BMPR2 | c.585A>G (p.Glu195=) c.516A>G (p.Glu172=) | |
2 | g.202514943A>T | CA350338999 | BMPR2 | c.585A>T (p.Glu195Asp) c.516A>T (p.Glu172Asp) | |
2 | g.202514944C>A | CA350339003 | BMPR2 | c.586C>A (p.Pro196Thr) c.517C>A (p.Pro173Thr) | |
2 | g.202514944C>G | CA350339006 | BMPR2 | c.586C>G (p.Pro196Ala) c.517C>G (p.Pro173Ala) | |
2 | g.202514944C>T | CA350339007 | BMPR2 | c.586C>T (p.Pro196Ser) c.517C>T (p.Pro173Ser) | |
2 | g.202514945C>A | CA350339016 | BMPR2 | c.587C>A (p.Pro196His) c.518C>A (p.Pro173His) | |
2 | g.202514945C>G | CA350339018 | BMPR2 | c.587C>G (p.Pro196Arg) c.518C>G (p.Pro173Arg) | |
2 | g.202514945C>T | CA350339020 | BMPR2 | c.587C>T (p.Pro196Leu) c.518C>T (p.Pro173Leu) |