Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202532550_202532551dup | CA2577215668 | BMPR2 | c.1129-35_1129-34dup (n.1129-35_1129-34dup) c.1060-35_1060-34dup (n.1060-35_1060-34dup) | gnomAD v4 |
2 | g.202532558_202532559dup | CA2061306 | BMPR2 | c.1129-27_1129-26dup (n.1129-27_1129-26dup) c.1060-27_1060-26dup (n.1060-27_1060-26dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532558_202532559del | CA2662706302 | BMPR2 | c.1129-27_1129-26del (n.1129-27_1129-26del) c.1060-27_1060-26del (n.1060-27_1060-26del) | gnomAD v4 |
2 | g.202532552C>A | CA2061307 | BMPR2 | c.1129-33C>A (n.1129-33C>A) c.1060-33C>A (n.1060-33C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532552C= | CA1321545626 | BMPR2 | c.1129-33C= (n.1129-33C=) c.1060-33C= (n.1060-33C=) | |
2 | g.202532552C>G | CA1321545627 | BMPR2 | c.1129-33C>G (n.1129-33C>G) c.1060-33C>G (n.1060-33C>G) | dbSNP gnomAD v4 |
2 | g.202532552C>T | CA430849312 | BMPR2 | c.1129-33C>T (n.1129-33C>T) c.1060-33C>T (n.1060-33C>T) | dbSNP gnomAD v4 |
2 | g.202532553T>G | CA2577215669 | BMPR2 | c.1129-32T>G (n.1129-32T>G) c.1060-32T>G (n.1060-32T>G) | |
2 | g.202532554C>A | CA2662706304 | BMPR2 | c.1129-31C>A (n.1129-31C>A) c.1060-31C>A (n.1060-31C>A) | gnomAD v4 |
2 | g.202532554C= | CA1321545629 | BMPR2 | c.1129-31C= (n.1129-31C=) c.1060-31C= (n.1060-31C=) | |
2 | g.202532554C>G | CA2061308 | BMPR2 | c.1129-31C>G (n.1129-31C>G) c.1060-31C>G (n.1060-31C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532554C>T | CA1321545630 | BMPR2 | c.1129-31C>T (n.1129-31C>T) c.1060-31C>T (n.1060-31C>T) | dbSNP gnomAD v4 |
2 | g.202532554_202532555delinsCT | CA1321545628 | BMPR2 | c.1129-31_1129-30delinsCT (n.1129-31_1129-30delinsCT) c.1060-31_1060-30delinsCT (n.1060-31_1060-30delinsCT) | |
2 | g.202532555del | CA2061309 | BMPR2 | c.1129-30del (n.1129-30del) c.1060-30del (n.1060-30del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532557T>G | CA2662706305 | BMPR2 | c.1129-28T>G (n.1129-28T>G) c.1060-28T>G (n.1060-28T>G) | gnomAD v4 |
2 | g.202532558C>A | CA538975618 | BMPR2 | c.1129-27C>A (n.1129-27C>A) c.1060-27C>A (n.1060-27C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202532558C= | CA1321545631 | BMPR2 | c.1129-27C= (n.1129-27C=) c.1060-27C= (n.1060-27C=) | |
2 | g.202532559T>A | CA538975620 | BMPR2 | c.1129-26T>A (n.1129-26T>A) c.1060-26T>A (n.1060-26T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202532559T= | CA1321545632 | BMPR2 | c.1129-26T= (n.1129-26T=) c.1060-26T= (n.1060-26T=) | |
2 | g.202532559_202532560del | CA2529435240 | BMPR2 | c.1129-26_1129-25del (n.1129-26_1129-25del) c.1060-26_1060-25del (n.1060-26_1060-25del) | gnomAD v4 |
2 | g.202532560A>G | CA2662706306 | BMPR2 | c.1129-25A>G (n.1129-25A>G) c.1060-25A>G (n.1060-25A>G) | gnomAD v4 |
2 | g.202532565dup | CA763434657 | BMPR2 | c.1129-20dup (n.1129-20dup) c.1060-20dup (n.1060-20dup) | dbSNP |
2 | g.202532565del | CA2577215670 | BMPR2 | c.1129-20del (n.1129-20del) c.1060-20del (n.1060-20del) | |
2 | g.202532563A= | CA1321545633 | BMPR2 | c.1129-22A= (n.1129-22A=) c.1060-22A= (n.1060-22A=) | |
2 | g.202532563A>C | CA2061310 | BMPR2 | c.1129-22A>C (n.1129-22A>C) c.1060-22A>C (n.1060-22A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532564_202532566delinsAAT | CA1321545634 | BMPR2 | c.1129-21_1129-19delinsAAT (n.1129-21_1129-19delinsAAT) c.1060-21_1060-19delinsAAT (n.1060-21_1060-19delinsAAT) | |
2 | g.202532565A= | CA1321545636 | BMPR2 | c.1129-20A= (n.1129-20A=) c.1060-20A= (n.1060-20A=) | |
2 | g.202532565A>G | CA1321545635 | BMPR2 | c.1129-20A>G (n.1129-20A>G) c.1060-20A>G (n.1060-20A>G) | dbSNP |
2 | g.202532565A>T | CA2577215671 | BMPR2 | c.1129-20A>T (n.1129-20A>T) c.1060-20A>T (n.1060-20A>T) | |
2 | g.202532565_202532566delinsAT | CA1321545637 | BMPR2 | c.1129-20_1129-19delinsAT (n.1129-20_1129-19delinsAT) c.1060-20_1060-19delinsAT (n.1060-20_1060-19delinsAT) | |
2 | g.202532567_202532568del | CA538975622 | BMPR2 | c.1129-18_1129-17del (n.1129-18_1129-17del) c.1060-18_1060-17del (n.1060-18_1060-17del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202532566del | CA538975623 | BMPR2 | c.1129-19del (n.1129-19del) c.1060-19del (n.1060-19del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.202532566T>A | CA1321545639 | BMPR2 | c.1129-19T>A (n.1129-19T>A) c.1060-19T>A (n.1060-19T>A) | dbSNP |
2 | g.202532566T>C | CA2662706307 | BMPR2 | c.1129-19T>C (n.1129-19T>C) c.1060-19T>C (n.1060-19T>C) | gnomAD v4 |
2 | g.202532566T= | CA1321545638 | BMPR2 | c.1129-19T= (n.1129-19T=) c.1060-19T= (n.1060-19T=) | |
2 | g.202532567A>G | CA2577215672 | BMPR2 | c.1129-18A>G (n.1129-18A>G) c.1060-18A>G (n.1060-18A>G) | gnomAD v4 |
2 | g.202532568T>G | CA2662706308 | BMPR2 | c.1129-17T>G (n.1129-17T>G) c.1060-17T>G (n.1060-17T>G) | gnomAD v4 |
2 | g.202532569C>A | CA2061311 | BMPR2 | c.1129-16C>A (n.1129-16C>A) c.1060-16C>A (n.1060-16C>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.202532569C= | CA1321545640 | BMPR2 | c.1129-16C= (n.1129-16C=) c.1060-16C= (n.1060-16C=) | |
2 | g.202532570A>G | CA2561201185 | BMPR2 | c.1129-15A>G (n.1129-15A>G) c.1060-15A>G (n.1060-15A>G) | gnomAD v4 |
2 | g.202532571C>T | CA2662706309 | BMPR2 | c.1129-14C>T (n.1129-14C>T) c.1060-14C>T (n.1060-14C>T) | gnomAD v4 |
2 | g.202532573C>A | CA2061312 | BMPR2 | c.1129-12C>A (n.1129-12C>A) c.1060-12C>A (n.1060-12C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532573C= | CA1321545641 | BMPR2 | c.1129-12C= (n.1129-12C=) c.1060-12C= (n.1060-12C=) | |
2 | g.202532574T>C | CA647681762 | BMPR2 | c.1129-11T>C (n.1129-11T>C) c.1060-11T>C (n.1060-11T>C) | COSMIC |
2 | g.202532574dup | CA2577215673 | BMPR2 | c.1129-11dup (n.1129-11dup) c.1060-11dup (n.1060-11dup) | |
2 | g.202532575A= | CA1321545642 | BMPR2 | c.1129-10A= (n.1129-10A=) c.1060-10A= (n.1060-10A=) | |
2 | g.202532575A>G | CA538975625 | BMPR2 | c.1129-10A>G (n.1129-10A>G) c.1060-10A>G (n.1060-10A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532575A>T | CA1041347191 | BMPR2 | c.1129-10A>T (n.1129-10A>T) c.1060-10A>T (n.1060-10A>T) | ClinVar dbSNP |
2 | g.202532578_202532579delinsA | CA2586971097 | BMPR2 | c.1129-7_1129-6delinsA (n.1129-7_1129-6delinsA) c.1060-7_1060-6delinsA (n.1060-7_1060-6delinsA) | |
2 | g.202532580A= | CA1321545643 | BMPR2 | c.1129-5A= (n.1129-5A=) c.1060-5A= (n.1060-5A=) | |
2 | g.202532580A>G | CA763434674 | BMPR2 | c.1129-5A>G (n.1129-5A>G) c.1060-5A>G (n.1060-5A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202532580A>T | CA2061313 | BMPR2 | c.1129-5A>T (n.1129-5A>T) c.1060-5A>T (n.1060-5A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532582C= | CA1321545644 | BMPR2 | c.1129-3C= (n.1129-3C=) c.1060-3C= (n.1060-3C=) | |
2 | g.202532582C>G | CA538975626 | BMPR2 | c.1129-3C>G (n.1129-3C>G) c.1060-3C>G (n.1060-3C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.202532582C>T | CA2061314 | BMPR2 | c.1129-3C>T (n.1129-3C>T) c.1060-3C>T (n.1060-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532583A= | CA1321545645 | BMPR2 | c.1129-2A= (n.1129-2A=) c.1060-2A= (n.1060-2A=) | |
2 | g.202532583A>C | CA350341633 | BMPR2 | c.1129-2A>C (n.1129-2A>C) c.1060-2A>C (n.1060-2A>C) | |
2 | g.202532583A>G | CA350341634 | BMPR2 | c.1129-2A>G (n.1129-2A>G) c.1060-2A>G (n.1060-2A>G) | |
2 | g.202532583A>T | CA350341636 | BMPR2 | c.1129-2A>T (n.1129-2A>T) c.1060-2A>T (n.1060-2A>T) | ClinVar |
2 | g.202532584G>A | CA350341638 | BMPR2 | c.1129-1G>A (n.1129-1G>A) c.1060-1G>A (n.1060-1G>A) | COSMIC |
2 | g.202532584G>C | CA350341640 | BMPR2 | c.1129-1G>C (n.1129-1G>C) c.1060-1G>C (n.1060-1G>C) | |
2 | g.202532584G>T | CA350341642 | BMPR2 | c.1129-1G>T (n.1129-1G>T) c.1060-1G>T (n.1060-1G>T) | |
2 | g.202532584_202532585dup | CA645293821 | BMPR2 | c.1129-1_1129dup c.1060-1_1060dup | ClinVar dbSNP |
2 | g.202532585G>A | CA350341649 | BMPR2 | c.1129G>A (p.Val377Ile) c.1060G>A (p.Val354Ile) | |
2 | g.202532585G>C | CA350341645 | BMPR2 | c.1129G>C (p.Val377Leu) c.1060G>C (p.Val354Leu) | |
2 | g.202532585G>T | CA350341647 | BMPR2 | c.1129G>T (p.Val377Phe) c.1060G>T (p.Val354Phe) | |
2 | g.202532586T>A | CA350341650 | BMPR2 | c.1130T>A (p.Val377Asp) c.1061T>A (p.Val354Asp) | |
2 | g.202532586T>C | CA350341653 | BMPR2 | c.1130T>C (p.Val377Ala) c.1061T>C (p.Val354Ala) | |
2 | g.202532586T>G | CA350341655 | BMPR2 | c.1130T>G (p.Val377Gly) c.1061T>G (p.Val354Gly) | |
2 | g.202532587T>A | CA430849342 | BMPR2 | c.1131T>A (p.Val377=) c.1062T>A (p.Val354=) | |
2 | g.202532587T>C | CA430849343 | BMPR2 | c.1131T>C (p.Val377=) c.1062T>C (p.Val354=) | |
2 | g.202532587T>G | CA430849345 | BMPR2 | c.1131T>G (p.Val377=) c.1062T>G (p.Val354=) | |
2 | g.202532588G>A | CA350341657 | BMPR2 | c.1132G>A (p.Gly378Ser) c.1063G>A (p.Gly355Ser) | |
2 | g.202532588G>C | CA350341659 | BMPR2 | c.1132G>C (p.Gly378Arg) c.1063G>C (p.Gly355Arg) | |
2 | g.202532588G>T | CA350341661 | BMPR2 | c.1132G>T (p.Gly378Cys) c.1063G>T (p.Gly355Cys) | |
2 | g.202532589G>A | CA350341663 | BMPR2 | c.1133G>A (p.Gly378Asp) c.1064G>A (p.Gly355Asp) | dbSNP COSMIC |
2 | g.202532589G>C | CA350341665 | BMPR2 | c.1133G>C (p.Gly378Ala) c.1064G>C (p.Gly355Ala) | |
2 | g.202532589G= | CA1321545646 | BMPR2 | c.1133G= (p.Gly378=) c.1064G= (p.Gly355=) | |
2 | g.202532589G>T | CA350341667 | BMPR2 | c.1133G>T (p.Gly378Val) c.1064G>T (p.Gly355Val) | ClinVar dbSNP |
2 | g.202532590del | CA2662706310 | BMPR2 | c.1134del (p.Thr379LeufsTer10) c.1065del (p.Thr356LeufsTer10) | gnomAD v4 |
2 | g.202532590C>A | CA430849354 | BMPR2 | c.1134C>A (p.Gly378=) c.1065C>A (p.Gly355=) | |
2 | g.202532590C>G | CA430849356 | BMPR2 | c.1134C>G (p.Gly378=) c.1065C>G (p.Gly355=) | |
2 | g.202532590C>T | CA430849357 | BMPR2 | c.1134C>T (p.Gly378=) c.1065C>T (p.Gly355=) | |
2 | g.202532591A>C | CA350341670 | BMPR2 | c.1135A>C (p.Thr379Pro) c.1066A>C (p.Thr356Pro) | |
2 | g.202532591A>G | CA350341671 | BMPR2 | c.1135A>G (p.Thr379Ala) c.1066A>G (p.Thr356Ala) | |
2 | g.202532591A>T | CA350341673 | BMPR2 | c.1135A>T (p.Thr379Ser) c.1066A>T (p.Thr356Ser) | |
2 | g.202532592C>A | CA350341679 | BMPR2 | c.1136C>A (p.Thr379Asn) c.1067C>A (p.Thr356Asn) | |
2 | g.202532592C>G | CA350341677 | BMPR2 | c.1136C>G (p.Thr379Ser) c.1067C>G (p.Thr356Ser) | |
2 | g.202532592C>T | CA350341676 | BMPR2 | c.1136C>T (p.Thr379Ile) c.1067C>T (p.Thr356Ile) | |
2 | g.202532593T>A | CA430849367 | BMPR2 | c.1137T>A (p.Thr379=) c.1068T>A (p.Thr356=) | |
2 | g.202532593T>C | CA430849368 | BMPR2 | c.1137T>C (p.Thr379=) c.1068T>C (p.Thr356=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202532593T>G | CA430849370 | BMPR2 | c.1137T>G (p.Thr379=) c.1068T>G (p.Thr356=) | |
2 | g.202532593T= | CA1321545647 | BMPR2 | c.1137T= (p.Thr379=) c.1068T= (p.Thr356=) | |
2 | g.202532594_202532595del | CA2586971098 | BMPR2 | c.1138_1139del (p.Ile380GlnfsTer18) c.1069_1070del (p.Ile357GlnfsTer18) | |
2 | g.202532594A>C | CA350341682 | BMPR2 | c.1138A>C (p.Ile380Leu) c.1069A>C (p.Ile357Leu) | |
2 | g.202532594A>G | CA350341683 | BMPR2 | c.1138A>G (p.Ile380Val) c.1069A>G (p.Ile357Val) | |
2 | g.202532594A>T | CA350341685 | BMPR2 | c.1138A>T (p.Ile380Phe) c.1069A>T (p.Ile357Phe) | |
2 | g.202532595T>A | CA350341688 | BMPR2 | c.1139T>A (p.Ile380Asn) c.1070T>A (p.Ile357Asn) | |
2 | g.202532595T>C | CA350341689 | BMPR2 | c.1139T>C (p.Ile380Thr) c.1070T>C (p.Ile357Thr) | dbSNP |
2 | g.202532595T>G | CA350341691 | BMPR2 | c.1139T>G (p.Ile380Ser) c.1070T>G (p.Ile357Ser) | |
2 | g.202532595T= | CA1321545648 | BMPR2 | c.1139T= (p.Ile380=) c.1070T= (p.Ile357=) | |
2 | g.202532595dup | CA2586971099 | BMPR2 | c.1139dup (p.Arg381GlnfsTer18) c.1070dup (p.Arg358GlnfsTer18) | |
2 | g.202532596C>A | CA430849382 | BMPR2 | c.1140C>A (p.Ile380=) c.1071C>A (p.Ile357=) | |
2 | g.202532596C= | CA1321545649 | BMPR2 | c.1140C= (p.Ile380=) c.1071C= (p.Ile357=) | |
2 | g.202532596C>G | CA350341694 | BMPR2 | c.1140C>G (p.Ile380Met) c.1071C>G (p.Ile357Met) | gnomAD v4 |
2 | g.202532596C>T | CA430849387 | BMPR2 | c.1140C>T (p.Ile380=) c.1071C>T (p.Ile357=) | |
2 | g.202532597A= | CA1321545650 | BMPR2 | c.1141A= (p.Arg381=) c.1072A= (p.Arg358=) | |
2 | g.202532597A>C | CA430849389 | BMPR2 | c.1141A>C (p.Arg381=) c.1072A>C (p.Arg358=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202532597A>G | CA350341696 | BMPR2 | c.1141A>G (p.Arg381Gly) c.1072A>G (p.Arg358Gly) | |
2 | g.202532597A>T | CA350341698 | BMPR2 | c.1141A>T (p.Arg381Ter) c.1072A>T (p.Arg358Ter) | |
2 | g.202532597dup | CA645293822 | BMPR2 | c.1141dup (p.Arg381LysfsTer18) c.1072dup (p.Arg358LysfsTer18) | ClinVar dbSNP |
2 | g.202532598_202532599dup | CA658796144 | BMPR2 | c.1142_1143dup (p.Tyr382AspfsTer8) c.1073_1074dup (p.Tyr359AspfsTer8) | ClinVar dbSNP |
2 | g.202532598G>A | CA350341700 | BMPR2 | c.1142G>A (p.Arg381Lys) c.1073G>A (p.Arg358Lys) | |
2 | g.202532598G>C | CA350341702 | BMPR2 | c.1142G>C (p.Arg381Thr) c.1073G>C (p.Arg358Thr) | |
2 | g.202532598G>T | CA350341704 | BMPR2 | c.1142G>T (p.Arg381Ile) c.1073G>T (p.Arg358Ile) | |
2 | g.202532599A>C | CA350341705 | BMPR2 | c.1143A>C (p.Arg381Ser) c.1074A>C (p.Arg358Ser) | |
2 | g.202532599A>G | CA430849400 | BMPR2 | c.1143A>G (p.Arg381=) c.1074A>G (p.Arg358=) | |
2 | g.202532599A>T | CA350341706 | BMPR2 | c.1143A>T (p.Arg381Ser) c.1074A>T (p.Arg358Ser) | |
2 | g.202532600T>A | CA350341707 | BMPR2 | c.1144T>A (p.Tyr382Asn) c.1075T>A (p.Tyr359Asn) | |
2 | g.202532600T>C | CA350341709 | BMPR2 | c.1144T>C (p.Tyr382His) c.1075T>C (p.Tyr359His) | |
2 | g.202532600T>G | CA350341708 | BMPR2 | c.1144T>G (p.Tyr382Asp) c.1075T>G (p.Tyr359Asp) | |
2 | g.202532601A>C | CA350341710 | BMPR2 | c.1145A>C (p.Tyr382Ser) c.1076A>C (p.Tyr359Ser) | |
2 | g.202532601A>G | CA350341711 | BMPR2 | c.1145A>G (p.Tyr382Cys) c.1076A>G (p.Tyr359Cys) | gnomAD v4 |
2 | g.202532601A>T | CA350341712 | BMPR2 | c.1145A>T (p.Tyr382Phe) c.1076A>T (p.Tyr359Phe) | |
2 | g.202532601dup | CA2662706312 | BMPR2 | c.1145dup (p.Tyr382Ter) c.1076dup (p.Tyr359Ter) | gnomAD v4 |
2 | g.202532602T>A | CA350341713 | BMPR2 | c.1146T>A (p.Tyr382Ter) c.1077T>A (p.Tyr359Ter) | |
2 | g.202532602T>C | CA430849408 | BMPR2 | c.1146T>C (p.Tyr382=) c.1077T>C (p.Tyr359=) | dbSNP gnomAD v4 |
2 | g.202532602T>G | CA350341714 | BMPR2 | c.1146T>G (p.Tyr382Ter) c.1077T>G (p.Tyr359Ter) | ClinVar dbSNP |
2 | g.202532602T= | CA1321545651 | BMPR2 | c.1146T= (p.Tyr382=) c.1077T= (p.Tyr359=) | |
2 | g.202532603A>C | CA350341715 | BMPR2 | c.1147A>C (p.Met383Leu) c.1078A>C (p.Met360Leu) | |
2 | g.202532603A>G | CA350341716 | BMPR2 | c.1147A>G (p.Met383Val) c.1078A>G (p.Met360Val) | |
2 | g.202532603A>T | CA350341717 | BMPR2 | c.1147A>T (p.Met383Leu) c.1078A>T (p.Met360Leu) | |
2 | g.202532603_202532604delinsAT | CA1321545652 | BMPR2 | c.1147_1148delinsAT (p.Met383=) c.1078_1079delinsAT (p.Met360=) | |
2 | g.202532604del | CA658655725 | BMPR2 | c.1148del (p.Met383ArgfsTer6) c.1079del (p.Met360ArgfsTer6) | ClinVar dbSNP |
2 | g.202532604T>A | CA350341718 | BMPR2 | c.1148T>A (p.Met383Lys) c.1079T>A (p.Met360Lys) | |
2 | g.202532604T>C | CA350341719 | BMPR2 | c.1148T>C (p.Met383Thr) c.1079T>C (p.Met360Thr) | |
2 | g.202532604T>G | CA350341720 | BMPR2 | c.1148T>G (p.Met383Arg) c.1079T>G (p.Met360Arg) | |
2 | g.202532604dup | CA2586971100 | BMPR2 | c.1148dup (p.Met383IlefsTer16) c.1079dup (p.Met360IlefsTer16) | |
2 | g.202532605G>A | CA350341721 | BMPR2 | c.1149G>A (p.Met383Ile) c.1080G>A (p.Met360Ile) | |
2 | g.202532605G>C | CA350341723 | BMPR2 | c.1149G>C (p.Met383Ile) c.1080G>C (p.Met360Ile) | |
2 | g.202532605G>T | CA350341722 | BMPR2 | c.1149G>T (p.Met383Ile) c.1080G>T (p.Met360Ile) | |
2 | g.202532606G>A | CA350341724 | BMPR2 | c.1150G>A (p.Ala384Thr) c.1081G>A (p.Ala361Thr) | |
2 | g.202532606G>C | CA350341726 | BMPR2 | c.1150G>C (p.Ala384Pro) c.1081G>C (p.Ala361Pro) | |
2 | g.202532606G>T | CA350341725 | BMPR2 | c.1150G>T (p.Ala384Ser) c.1081G>T (p.Ala361Ser) | |
2 | g.202532607C>A | CA350341727 | BMPR2 | c.1151C>A (p.Ala384Glu) c.1082C>A (p.Ala361Glu) | |
2 | g.202532607C= | CA1321545653 | BMPR2 | c.1151C= (p.Ala384=) c.1082C= (p.Ala361=) | |
2 | g.202532607C>G | CA350341729 | BMPR2 | c.1151C>G (p.Ala384Gly) c.1082C>G (p.Ala361Gly) | |
2 | g.202532607C>T | CA350341728 | BMPR2 | c.1151C>T (p.Ala384Val) c.1082C>T (p.Ala361Val) | ClinVar dbSNP |
2 | g.202532608A>C | CA430849428 | BMPR2 | c.1152A>C (p.Ala384=) c.1083A>C (p.Ala361=) | |
2 | g.202532608A>G | CA430849429 | BMPR2 | c.1152A>G (p.Ala384=) c.1083A>G (p.Ala361=) | |
2 | g.202532608A>T | CA430849430 | BMPR2 | c.1152A>T (p.Ala384=) c.1083A>T (p.Ala361=) | |
2 | g.202532609C>A | CA350341730 | BMPR2 | c.1153C>A (p.Pro385Thr) c.1084C>A (p.Pro362Thr) | |
2 | g.202532609C>G | CA350341731 | BMPR2 | c.1153C>G (p.Pro385Ala) c.1084C>G (p.Pro362Ala) | |
2 | g.202532609C>T | CA350341732 | BMPR2 | c.1153C>T (p.Pro385Ser) c.1084C>T (p.Pro362Ser) | |
2 | g.202532610C>A | CA350341733 | BMPR2 | c.1154C>A (p.Pro385Gln) c.1085C>A (p.Pro362Gln) | |
2 | g.202532610C>G | CA350341734 | BMPR2 | c.1154C>G (p.Pro385Arg) c.1085C>G (p.Pro362Arg) | ClinVar dbSNP |
2 | g.202532610C>T | CA350341735 | BMPR2 | c.1154C>T (p.Pro385Leu) c.1085C>T (p.Pro362Leu) | |
2 | g.202532611A>C | CA430849440 | BMPR2 | c.1155A>C (p.Pro385=) c.1086A>C (p.Pro362=) | |
2 | g.202532611A>G | CA430849442 | BMPR2 | c.1155A>G (p.Pro385=) c.1086A>G (p.Pro362=) | |
2 | g.202532611A>T | CA430849441 | BMPR2 | c.1155A>T (p.Pro385=) c.1086A>T (p.Pro362=) | |
2 | g.202532612G>A | CA350341736 | BMPR2 | c.1156G>A (p.Glu386Lys) c.1087G>A (p.Glu363Lys) | ClinVar dbSNP |
2 | g.202532612G>C | CA350341737 | BMPR2 | c.1156G>C (p.Glu386Gln) c.1087G>C (p.Glu363Gln) | ClinVar dbSNP |
2 | g.202532612G= | CA1321545654 | BMPR2 | c.1156G= (p.Glu386=) c.1087G= (p.Glu363=) | |
2 | g.202532612G>T | CA350341738 | BMPR2 | c.1156G>T (p.Glu386Ter) c.1087G>T (p.Glu363Ter) | |
2 | g.202532613A= | CA1321545655 | BMPR2 | c.1157A= (p.Glu386=) c.1088A= (p.Glu363=) | |
2 | g.202532613A>C | CA350341739 | BMPR2 | c.1157A>C (p.Glu386Ala) c.1088A>C (p.Glu363Ala) | ClinVar dbSNP |
2 | g.202532613A>G | CA350341740 | BMPR2 | c.1157A>G (p.Glu386Gly) c.1088A>G (p.Glu363Gly) | ClinVar dbSNP COSMIC |
2 | g.202532613A>T | CA350341741 | BMPR2 | c.1157A>T (p.Glu386Val) c.1088A>T (p.Glu363Val) | ClinVar dbSNP |
2 | g.202532614A>C | CA350341742 | BMPR2 | c.1158A>C (p.Glu386Asp) c.1089A>C (p.Glu363Asp) | |
2 | g.202532614A>G | CA430849455 | BMPR2 | c.1158A>G (p.Glu386=) c.1089A>G (p.Glu363=) | |
2 | g.202532614A>T | CA350341743 | BMPR2 | c.1158A>T (p.Glu386Asp) c.1089A>T (p.Glu363Asp) | |
2 | g.202532615G>A | CA350341744 | BMPR2 | c.1159G>A (p.Val387Met) c.1090G>A (p.Val364Met) | |
2 | g.202532615G>C | CA350341745 | BMPR2 | c.1159G>C (p.Val387Leu) c.1090G>C (p.Val364Leu) | |
2 | g.202532615G>T | CA350341746 | BMPR2 | c.1159G>T (p.Val387Leu) c.1090G>T (p.Val364Leu) | |
2 | g.202532616T>A | CA350341747 | BMPR2 | c.1160T>A (p.Val387Glu) c.1091T>A (p.Val364Glu) | |
2 | g.202532616T>C | CA350341748 | BMPR2 | c.1160T>C (p.Val387Ala) c.1091T>C (p.Val364Ala) | |
2 | g.202532616T>G | CA350341749 | BMPR2 | c.1160T>G (p.Val387Gly) c.1091T>G (p.Val364Gly) | |
2 | g.202532617del | CA2586971101 | BMPR2 | c.1161del (p.Leu388Ter) c.1092del (p.Leu365Ter) | |
2 | g.202532617G>A | CA64029547 | BMPR2 | c.1161G>A (p.Val387=) c.1092G>A (p.Val364=) | dbSNP |
2 | g.202532617G>C | CA430849466 | BMPR2 | c.1161G>C (p.Val387=) c.1092G>C (p.Val364=) | |
2 | g.202532617G= | CA1321545656 | BMPR2 | c.1161G= (p.Val387=) c.1092G= (p.Val364=) | |
2 | g.202532617G>T | CA430849468 | BMPR2 | c.1161G>T (p.Val387=) c.1092G>T (p.Val364=) | |
2 | g.202532618C>A | CA350341750 | BMPR2 | c.1162C>A (p.Leu388Ile) c.1093C>A (p.Leu365Ile) | |
2 | g.202532618C>G | CA350341751 | BMPR2 | c.1162C>G (p.Leu388Val) c.1093C>G (p.Leu365Val) | |
2 | g.202532618C>T | CA430849472 | BMPR2 | c.1162C>T (p.Leu388=) c.1093C>T (p.Leu365=) | |
2 | g.202532619T>A | CA350341752 | BMPR2 | c.1163T>A (p.Leu388Gln) c.1094T>A (p.Leu365Gln) | |
2 | g.202532619T>C | CA350341753 | BMPR2 | c.1163T>C (p.Leu388Pro) c.1094T>C (p.Leu365Pro) | |
2 | g.202532619T>G | CA350341754 | BMPR2 | c.1163T>G (p.Leu388Arg) c.1094T>G (p.Leu365Arg) | |
2 | g.202532620A= | CA1321545657 | BMPR2 | c.1164A= (p.Leu388=) c.1095A= (p.Leu365=) | |
2 | g.202532620A>C | CA430849480 | BMPR2 | c.1164A>C (p.Leu388=) c.1095A>C (p.Leu365=) | |
2 | g.202532620A>G | CA430849482 | BMPR2 | c.1164A>G (p.Leu388=) c.1095A>G (p.Leu365=) | |
2 | g.202532620A>T | CA2061315 | BMPR2 | c.1164A>T (p.Leu388=) c.1095A>T (p.Leu365=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532621G>A | CA350341755 | BMPR2 | c.1165G>A (p.Glu389Lys) c.1096G>A (p.Glu366Lys) | |
2 | g.202532621G>C | CA350341757 | BMPR2 | c.1165G>C (p.Glu389Gln) c.1096G>C (p.Glu366Gln) | |
2 | g.202532621G>T | CA350341756 | BMPR2 | c.1165G>T (p.Glu389Ter) c.1096G>T (p.Glu366Ter) | |
2 | g.202532622A>C | CA350341758 | BMPR2 | c.1166A>C (p.Glu389Ala) c.1097A>C (p.Glu366Ala) | |
2 | g.202532622A>G | CA350341759 | BMPR2 | c.1166A>G (p.Glu389Gly) c.1097A>G (p.Glu366Gly) | COSMIC |
2 | g.202532622A>T | CA350341760 | BMPR2 | c.1166A>T (p.Glu389Val) c.1097A>T (p.Glu366Val) | |
2 | g.202532623A>C | CA350341761 | BMPR2 | c.1167A>C (p.Glu389Asp) c.1098A>C (p.Glu366Asp) | |
2 | g.202532623A>G | CA430849500 | BMPR2 | c.1167A>G (p.Glu389=) c.1098A>G (p.Glu366=) | |
2 | g.202532623A>T | CA350341762 | BMPR2 | c.1167A>T (p.Glu389Asp) c.1098A>T (p.Glu366Asp) | |
2 | g.202532624G>A | CA350341763 | BMPR2 | c.1168G>A (p.Gly390Arg) c.1099G>A (p.Gly367Arg) | dbSNP COSMIC |
2 | g.202532624G>C | CA350341764 | BMPR2 | c.1168G>C (p.Gly390Arg) c.1099G>C (p.Gly367Arg) | |
2 | g.202532624G= | CA1321545658 | BMPR2 | c.1168G= (p.Gly390=) c.1099G= (p.Gly367=) | |
2 | g.202532624G>T | CA350341765 | BMPR2 | c.1168G>T (p.Gly390Ter) c.1099G>T (p.Gly367Ter) | COSMIC |
2 | g.202532625del | CA2580065453 | BMPR2 | c.1169del (p.Gly390GlufsTer3) c.1100del (p.Gly367GlufsTer3) | ClinVar |
2 | g.202532625G>A | CA350341766 | BMPR2 | c.1169G>A (p.Gly390Glu) c.1100G>A (p.Gly367Glu) | |
2 | g.202532625G>C | CA350341767 | BMPR2 | c.1169G>C (p.Gly390Ala) c.1100G>C (p.Gly367Ala) | |
2 | g.202532625G>T | CA350341768 | BMPR2 | c.1169G>T (p.Gly390Val) c.1100G>T (p.Gly367Val) | |
2 | g.202532626A>C | CA430849511 | BMPR2 | c.1170A>C (p.Gly390=) c.1101A>C (p.Gly367=) | |
2 | g.202532626A>G | CA430849514 | BMPR2 | c.1170A>G (p.Gly390=) c.1101A>G (p.Gly367=) | |
2 | g.202532626A>T | CA430849515 | BMPR2 | c.1170A>T (p.Gly390=) c.1101A>T (p.Gly367=) | |
2 | g.202532627G>A | CA350341771 | BMPR2 | c.1171G>A (p.Ala391Thr) c.1102G>A (p.Ala368Thr) | ClinVar dbSNP |
2 | g.202532627G>C | CA350341770 | BMPR2 | c.1171G>C (p.Ala391Pro) c.1102G>C (p.Ala368Pro) | |
2 | g.202532627G= | CA1321545659 | BMPR2 | c.1171G= (p.Ala391=) c.1102G= (p.Ala368=) | |
2 | g.202532627G>T | CA350341769 | BMPR2 | c.1171G>T (p.Ala391Ser) c.1102G>T (p.Ala368Ser) | |
2 | g.202532628C>A | CA350341772 | BMPR2 | c.1172C>A (p.Ala391Asp) c.1103C>A (p.Ala368Asp) | |
2 | g.202532628C>G | CA350341773 | BMPR2 | c.1172C>G (p.Ala391Gly) c.1103C>G (p.Ala368Gly) | |
2 | g.202532628C>T | CA350341774 | BMPR2 | c.1172C>T (p.Ala391Val) c.1103C>T (p.Ala368Val) | |
2 | g.202532629T>A | CA430849527 | BMPR2 | c.1173T>A (p.Ala391=) c.1104T>A (p.Ala368=) | |
2 | g.202532629T>C | CA430849529 | BMPR2 | c.1173T>C (p.Ala391=) c.1104T>C (p.Ala368=) | |
2 | g.202532629T>G | CA430849530 | BMPR2 | c.1173T>G (p.Ala391=) c.1104T>G (p.Ala368=) | |
2 | g.202532630G>A | CA350341775 | BMPR2 | c.1174G>A (p.Val392Met) c.1105G>A (p.Val369Met) | |
2 | g.202532630G>C | CA350341776 | BMPR2 | c.1174G>C (p.Val392Leu) c.1105G>C (p.Val369Leu) | |
2 | g.202532630G>T | CA350341777 | BMPR2 | c.1174G>T (p.Val392Leu) c.1105G>T (p.Val369Leu) | |
2 | g.202532631del | CA2573134355 | BMPR2 | c.1175del (p.Val392GlyfsTer3) c.1106del (p.Val369GlyfsTer3) | ClinVar dbSNP |
2 | g.202532631T>A | CA350341778 | BMPR2 | c.1175T>A (p.Val392Glu) c.1106T>A (p.Val369Glu) | ClinVar dbSNP |
2 | g.202532631T>C | CA350341779 | BMPR2 | c.1175T>C (p.Val392Ala) c.1106T>C (p.Val369Ala) | ClinVar dbSNP |
2 | g.202532631T>G | CA350341780 | BMPR2 | c.1175T>G (p.Val392Gly) c.1106T>G (p.Val369Gly) | |
2 | g.202532631T= | CA1321545660 | BMPR2 | c.1175T= (p.Val392=) c.1106T= (p.Val369=) | |
2 | g.202532632G>A | CA430849538 | BMPR2 | c.1176G>A (p.Val392=) c.1107G>A (p.Val369=) | gnomAD v4 |
2 | g.202532632G>C | CA430849539 | BMPR2 | c.1176G>C (p.Val392=) c.1107G>C (p.Val369=) | |
2 | g.202532632G>T | CA430849542 | BMPR2 | c.1176G>T (p.Val392=) c.1107G>T (p.Val369=) | |
2 | g.202532633A>C | CA350341781 | BMPR2 | c.1177A>C (p.Asn393His) c.1108A>C (p.Asn370His) | |
2 | g.202532633A>G | CA350341782 | BMPR2 | c.1177A>G (p.Asn393Asp) c.1108A>G (p.Asn370Asp) | |
2 | g.202532633A>T | CA350341783 | BMPR2 | c.1177A>T (p.Asn393Tyr) c.1108A>T (p.Asn370Tyr) | |
2 | g.202532634A= | CA1321545661 | BMPR2 | c.1178A= (p.Asn393=) c.1109A= (p.Asn370=) | |
2 | g.202532634A>C | CA350341786 | BMPR2 | c.1178A>C (p.Asn393Thr) c.1109A>C (p.Asn370Thr) | |
2 | g.202532634A>G | CA350341785 | BMPR2 | c.1178A>G (p.Asn393Ser) c.1109A>G (p.Asn370Ser) | ClinVar dbSNP |
2 | g.202532634A>T | CA350341784 | BMPR2 | c.1178A>T (p.Asn393Ile) c.1109A>T (p.Asn370Ile) | |
2 | g.202532635C>A | CA350341787 | BMPR2 | c.1179C>A (p.Asn393Lys) c.1110C>A (p.Asn370Lys) | |
2 | g.202532635C>G | CA350341788 | BMPR2 | c.1179C>G (p.Asn393Lys) c.1110C>G (p.Asn370Lys) | |
2 | g.202532635C>T | CA430849558 | BMPR2 | c.1179C>T (p.Asn393=) c.1110C>T (p.Asn370=) | |
2 | g.202532636T>A | CA350341789 | BMPR2 | c.1180T>A (p.Leu394Met) c.1111T>A (p.Leu371Met) | |
2 | g.202532636T>C | CA430849560 | BMPR2 | c.1180T>C (p.Leu394=) c.1111T>C (p.Leu371=) | |
2 | g.202532636T>G | CA350341790 | BMPR2 | c.1180T>G (p.Leu394Val) c.1111T>G (p.Leu371Val) | |
2 | g.202532637T>A | CA350341791 | BMPR2 | c.1181T>A (p.Leu394Ter) c.1112T>A (p.Leu371Ter) | |
2 | g.202532637T>C | CA350341792 | BMPR2 | c.1181T>C (p.Leu394Ser) c.1112T>C (p.Leu371Ser) | |
2 | g.202532637T>G | CA350341793 | BMPR2 | c.1181T>G (p.Leu394Trp) c.1112T>G (p.Leu371Trp) | |
2 | g.202532638G>A | CA430849570 | BMPR2 | c.1182G>A (p.Leu394=) c.1113G>A (p.Leu371=) | |
2 | g.202532638G>C | CA350341794 | BMPR2 | c.1182G>C (p.Leu394Phe) c.1113G>C (p.Leu371Phe) | |
2 | g.202532638G>T | CA350341795 | BMPR2 | c.1182G>T (p.Leu394Phe) c.1113G>T (p.Leu371Phe) | |
2 | g.202532639A>C | CA430849574 | BMPR2 | c.1183A>C (p.Arg395=) c.1114A>C (p.Arg372=) | |
2 | g.202532639A>G | CA350341796 | BMPR2 | c.1183A>G (p.Arg395Gly) c.1114A>G (p.Arg372Gly) | |
2 | g.202532639A>T | CA350341797 | BMPR2 | c.1183A>T (p.Arg395Trp) c.1114A>T (p.Arg372Trp) | |
2 | g.202532640G>A | CA350341798 | BMPR2 | c.1184G>A (p.Arg395Lys) c.1115G>A (p.Arg372Lys) | dbSNP |
2 | g.202532640G>C | CA350341799 | BMPR2 | c.1184G>C (p.Arg395Thr) c.1115G>C (p.Arg372Thr) | |
2 | g.202532640G= | CA1321545662 | BMPR2 | c.1184G= (p.Arg395=) c.1115G= (p.Arg372=) | |
2 | g.202532640G>T | CA350341800 | BMPR2 | c.1184G>T (p.Arg395Met) c.1115G>T (p.Arg372Met) | |
2 | g.202532641G>A | CA430849582 | BMPR2 | c.1185G>A (p.Arg395=) c.1116G>A (p.Arg372=) | |
2 | g.202532641G>C | CA350341801 | BMPR2 | c.1185G>C (p.Arg395Ser) c.1116G>C (p.Arg372Ser) | |
2 | g.202532641G>T | CA350341802 | BMPR2 | c.1185G>T (p.Arg395Ser) c.1116G>T (p.Arg372Ser) | |
2 | g.202532642G>A | CA350341803 | BMPR2 | c.1186G>A (p.Asp396Asn) c.1117G>A (p.Asp373Asn) | COSMIC |
2 | g.202532642G>C | CA350341805 | BMPR2 | c.1186G>C (p.Asp396His) c.1117G>C (p.Asp373His) | |
2 | g.202532642G>T | CA350341804 | BMPR2 | c.1186G>T (p.Asp396Tyr) c.1117G>T (p.Asp373Tyr) | |
2 | g.202532643A>C | CA350341806 | BMPR2 | c.1187A>C (p.Asp396Ala) c.1118A>C (p.Asp373Ala) | |
2 | g.202532643A>G | CA350341807 | BMPR2 | c.1187A>G (p.Asp396Gly) c.1118A>G (p.Asp373Gly) | |
2 | g.202532643A>T | CA350341808 | BMPR2 | c.1187A>T (p.Asp396Val) c.1118A>T (p.Asp373Val) | |
2 | g.202532644C>A | CA350341809 | BMPR2 | c.1188C>A (p.Asp396Glu) c.1119C>A (p.Asp373Glu) | |
2 | g.202532644C>G | CA350341810 | BMPR2 | c.1188C>G (p.Asp396Glu) c.1119C>G (p.Asp373Glu) | |
2 | g.202532644C>T | CA430849592 | BMPR2 | c.1188C>T (p.Asp396=) c.1119C>T (p.Asp373=) | |
2 | g.202532644_202532646delinsCTG | CA1321545663 | BMPR2 | c.1188_1190delinsCTG (p.Asp396=) c.1119_1121delinsCTG (p.Asp373=) | |
2 | g.202532645T>A | CA350341811 | BMPR2 | c.1189T>A (p.Cys397Ser) c.1120T>A (p.Cys374Ser) | |
2 | g.202532645T>C | CA350341812 | BMPR2 | c.1189T>C (p.Cys397Arg) c.1120T>C (p.Cys374Arg) | |
2 | g.202532645T>G | CA350341813 | BMPR2 | c.1189T>G (p.Cys397Gly) c.1120T>G (p.Cys374Gly) | |
2 | g.202532647_202532648del | CA645293823 | BMPR2 | c.1191_1192del (p.Cys397Ter) c.1122_1123del (p.Cys374Ter) | ClinVar dbSNP |
2 | g.202532646G>A | CA2061316 | BMPR2 | c.1190G>A (p.Cys397Tyr) c.1121G>A (p.Cys374Tyr) | dbSNP ExAC gnomAD v4 |
2 | g.202532646G>C | CA350341814 | BMPR2 | c.1190G>C (p.Cys397Ser) c.1121G>C (p.Cys374Ser) | gnomAD v4 |
2 | g.202532646G= | CA1321545664 | BMPR2 | c.1190G= (p.Cys397=) c.1121G= (p.Cys374=) | |
2 | g.202532646G>T | CA350341815 | BMPR2 | c.1190G>T (p.Cys397Phe) c.1121G>T (p.Cys374Phe) | |
2 | g.202532647T>A | CA350341816 | BMPR2 | c.1191T>A (p.Cys397Ter) c.1122T>A (p.Cys374Ter) | |
2 | g.202532647T>C | CA430849600 | BMPR2 | c.1191T>C (p.Cys397=) c.1122T>C (p.Cys374=) | |
2 | g.202532647T>G | CA350341817 | BMPR2 | c.1191T>G (p.Cys397Trp) c.1122T>G (p.Cys374Trp) | |
2 | g.202532648G>A | CA350341818 | BMPR2 | c.1192G>A (p.Glu398Lys) c.1123G>A (p.Glu375Lys) | |
2 | g.202532648G>C | CA350341819 | BMPR2 | c.1192G>C (p.Glu398Gln) c.1123G>C (p.Glu375Gln) | |
2 | g.202532648G>T | CA350341820 | BMPR2 | c.1192G>T (p.Glu398Ter) c.1123G>T (p.Glu375Ter) | |
2 | g.202532649A= | CA1321545665 | BMPR2 | c.1193A= (p.Glu398=) c.1124A= (p.Glu375=) | |
2 | g.202532649A>C | CA350341821 | BMPR2 | c.1193A>C (p.Glu398Ala) c.1124A>C (p.Glu375Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202532649A>G | CA350341822 | BMPR2 | c.1193A>G (p.Glu398Gly) c.1124A>G (p.Glu375Gly) | |
2 | g.202532649A>T | CA350341823 | BMPR2 | c.1193A>T (p.Glu398Val) c.1124A>T (p.Glu375Val) | |
2 | g.202532650A>C | CA350341825 | BMPR2 | c.1194A>C (p.Glu398Asp) c.1125A>C (p.Glu375Asp) | |
2 | g.202532650A>G | CA430849606 | BMPR2 | c.1194A>G (p.Glu398=) c.1125A>G (p.Glu375=) | |
2 | g.202532650A>T | CA350341824 | BMPR2 | c.1194A>T (p.Glu398Asp) c.1125A>T (p.Glu375Asp) | |
2 | g.202532651T>A | CA350341826 | BMPR2 | c.1195T>A (p.Ser399Thr) c.1126T>A (p.Ser376Thr) | |
2 | g.202532651T>C | CA350341827 | BMPR2 | c.1195T>C (p.Ser399Pro) c.1126T>C (p.Ser376Pro) | |
2 | g.202532651T>G | CA350341828 | BMPR2 | c.1195T>G (p.Ser399Ala) c.1126T>G (p.Ser376Ala) |