Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
2 | g.202532652C>A | CA350341829 | BMPR2 | c.1196C>A (p.Ser399Ter) c.1127C>A (p.Ser376Ter) | |
2 | g.202532652C= | CA1321545667 | BMPR2 | c.1196C= (p.Ser399=) c.1127C= (p.Ser376=) | |
2 | g.202532652C>G | CA350341830 | BMPR2 | c.1196C>G (p.Ser399Ter) c.1127C>G (p.Ser376Ter) | ClinVar dbSNP |
2 | g.202532652C>T | CA350341831 | BMPR2 | c.1196C>T (p.Ser399Leu) c.1127C>T (p.Ser376Leu) | |
2 | g.202532652_202532653delinsCA | CA1321545666 | BMPR2 | c.1196_1197delinsCA (p.Ser399=) c.1127_1128delinsCA (p.Ser376=) | |
2 | g.202532653del | CA1041321268 | BMPR2 | c.1197del (p.Ala400LeufsTer2) c.1128del (p.Ala377LeufsTer2) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202532653A>C | CA430849615 | BMPR2 | c.1197A>C (p.Ser399=) c.1128A>C (p.Ser376=) | |
2 | g.202532653A>G | CA430849617 | BMPR2 | c.1197A>G (p.Ser399=) c.1128A>G (p.Ser376=) | gnomAD v4 |
2 | g.202532653A>T | CA430849618 | BMPR2 | c.1197A>T (p.Ser399=) c.1128A>T (p.Ser376=) | |
2 | g.202532654G>A | CA350341832 | BMPR2 | c.1198G>A (p.Ala400Thr) c.1129G>A (p.Ala377Thr) | |
2 | g.202532654G>C | CA350341834 | BMPR2 | c.1198G>C (p.Ala400Pro) c.1129G>C (p.Ala377Pro) | |
2 | g.202532654G>T | CA350341833 | BMPR2 | c.1198G>T (p.Ala400Ser) c.1129G>T (p.Ala377Ser) | |
2 | g.202532655C>A | CA350341835 | BMPR2 | c.1199C>A (p.Ala400Asp) c.1130C>A (p.Ala377Asp) | |
2 | g.202532655C>G | CA350341836 | BMPR2 | c.1199C>G (p.Ala400Gly) c.1130C>G (p.Ala377Gly) | |
2 | g.202532655C>T | CA350341837 | BMPR2 | c.1199C>T (p.Ala400Val) c.1130C>T (p.Ala377Val) | |
2 | g.202532656T>A | CA430849635 | BMPR2 | c.1200T>A (p.Ala400=) c.1131T>A (p.Ala377=) | |
2 | g.202532656T>C | CA430849636 | BMPR2 | c.1200T>C (p.Ala400=) c.1131T>C (p.Ala377=) | |
2 | g.202532656T>G | CA430849637 | BMPR2 | c.1200T>G (p.Ala400=) c.1131T>G (p.Ala377=) | |
2 | g.202532657T>A | CA350341838 | BMPR2 | c.1201T>A (p.Leu401Met) c.1132T>A (p.Leu378Met) | |
2 | g.202532657T>C | CA430849640 | BMPR2 | c.1201T>C (p.Leu401=) c.1132T>C (p.Leu378=) | |
2 | g.202532657T>G | CA350341839 | BMPR2 | c.1201T>G (p.Leu401Val) c.1132T>G (p.Leu378Val) | |
2 | g.202532658T>A | CA350341840 | BMPR2 | c.1202T>A (p.Leu401Ter) c.1133T>A (p.Leu378Ter) | |
2 | g.202532658T>C | CA350341841 | BMPR2 | c.1202T>C (p.Leu401Ser) c.1133T>C (p.Leu378Ser) | ClinVar dbSNP |
2 | g.202532658T>G | CA350341842 | BMPR2 | c.1202T>G (p.Leu401Trp) c.1133T>G (p.Leu378Trp) | |
2 | g.202532658T= | CA1321545668 | BMPR2 | c.1202T= (p.Leu401=) c.1133T= (p.Leu378=) | |
2 | g.202532659G>A | CA430849654 | BMPR2 | c.1203G>A (p.Leu401=) c.1134G>A (p.Leu378=) | |
2 | g.202532659G>C | CA350341843 | BMPR2 | c.1203G>C (p.Leu401Phe) c.1134G>C (p.Leu378Phe) | |
2 | g.202532659G>T | CA350341844 | BMPR2 | c.1203G>T (p.Leu401Phe) c.1134G>T (p.Leu378Phe) | |
2 | g.202532660A>C | CA350341845 | BMPR2 | c.1204A>C (p.Lys402Gln) c.1135A>C (p.Lys379Gln) | |
2 | g.202532660A>G | CA350341847 | BMPR2 | c.1204A>G (p.Lys402Glu) c.1135A>G (p.Lys379Glu) | |
2 | g.202532660A>T | CA350341846 | BMPR2 | c.1204A>T (p.Lys402Ter) c.1135A>T (p.Lys379Ter) | |
2 | g.202532662del | CA2499215575 | BMPR2 | c.1206del (p.Lys402AsnfsTer3) c.1137del (p.Lys379AsnfsTer3) | ClinVar dbSNP |
2 | g.202532661A>C | CA350341848 | BMPR2 | c.1205A>C (p.Lys402Thr) c.1136A>C (p.Lys379Thr) | |
2 | g.202532661A>G | CA350341850 | BMPR2 | c.1205A>G (p.Lys402Arg) c.1136A>G (p.Lys379Arg) | gnomAD v4 |
2 | g.202532661A>T | CA350341849 | BMPR2 | c.1205A>T (p.Lys402Ile) c.1136A>T (p.Lys379Ile) | |
2 | g.202532662A>C | CA350341851 | BMPR2 | c.1206A>C (p.Lys402Asn) c.1137A>C (p.Lys379Asn) | |
2 | g.202532662A>G | CA430849671 | BMPR2 | c.1206A>G (p.Lys402=) c.1137A>G (p.Lys379=) | |
2 | g.202532662A>T | CA350341852 | BMPR2 | c.1206A>T (p.Lys402Asn) c.1137A>T (p.Lys379Asn) | |
2 | g.202532663C>A | CA350341853 | BMPR2 | c.1207C>A (p.Gln403Lys) c.1138C>A (p.Gln380Lys) | |
2 | g.202532663C= | CA1321545669 | BMPR2 | c.1207C= (p.Gln403=) c.1138C= (p.Gln380=) | |
2 | g.202532663C>G | CA350341854 | BMPR2 | c.1207C>G (p.Gln403Glu) c.1138C>G (p.Gln380Glu) | gnomAD v4 |
2 | g.202532663C>T | CA64029555 | BMPR2 | c.1207C>T (p.Gln403Ter) c.1138C>T (p.Gln380Ter) | ClinVar dbSNP COSMIC |
2 | g.202532664A>C | CA350341855 | BMPR2 | c.1208A>C (p.Gln403Pro) c.1139A>C (p.Gln380Pro) | |
2 | g.202532664A>G | CA350341857 | BMPR2 | c.1208A>G (p.Gln403Arg) c.1139A>G (p.Gln380Arg) | |
2 | g.202532664A>T | CA350341856 | BMPR2 | c.1208A>T (p.Gln403Leu) c.1139A>T (p.Gln380Leu) | |
2 | g.202532665A= | CA1321545670 | BMPR2 | c.1209A= (p.Gln403=) c.1140A= (p.Gln380=) | |
2 | g.202532665A>C | CA350341858 | BMPR2 | c.1209A>C (p.Gln403His) c.1140A>C (p.Gln380His) | |
2 | g.202532665A>G | CA2061317 | BMPR2 | c.1209A>G (p.Gln403=) c.1140A>G (p.Gln380=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532665A>T | CA350341859 | BMPR2 | c.1209A>T (p.Gln403His) c.1140A>T (p.Gln380His) | |
2 | g.202532666G>A | CA350341860 | BMPR2 | c.1210G>A (p.Val404Ile) c.1141G>A (p.Val381Ile) | |
2 | g.202532666G>C | CA350341861 | BMPR2 | c.1210G>C (p.Val404Leu) c.1141G>C (p.Val381Leu) | |
2 | g.202532666G>T | CA350341862 | BMPR2 | c.1210G>T (p.Val404Leu) c.1141G>T (p.Val381Leu) | |
2 | g.202532667T>A | CA350341863 | BMPR2 | c.1211T>A (p.Val404Glu) c.1142T>A (p.Val381Glu) | |
2 | g.202532667T>C | CA350341864 | BMPR2 | c.1211T>C (p.Val404Ala) c.1142T>C (p.Val381Ala) | gnomAD v4 |
2 | g.202532667T>G | CA350341865 | BMPR2 | c.1211T>G (p.Val404Gly) c.1142T>G (p.Val381Gly) | |
2 | g.202532668A>C | CA430849695 | BMPR2 | c.1212A>C (p.Val404=) c.1143A>C (p.Val381=) | |
2 | g.202532668A>G | CA430849700 | BMPR2 | c.1212A>G (p.Val404=) c.1143A>G (p.Val381=) | |
2 | g.202532668A>T | CA430849697 | BMPR2 | c.1212A>T (p.Val404=) c.1143A>T (p.Val381=) | |
2 | g.202532669G>A | CA350341866 | BMPR2 | c.1213G>A (p.Asp405Asn) c.1144G>A (p.Asp382Asn) | |
2 | g.202532669G>C | CA350341867 | BMPR2 | c.1213G>C (p.Asp405His) c.1144G>C (p.Asp382His) | |
2 | g.202532669G>T | CA350341868 | BMPR2 | c.1213G>T (p.Asp405Tyr) c.1144G>T (p.Asp382Tyr) | |
2 | g.202532669_202532670delinsGA | CA1321545671 | BMPR2 | c.1213_1214delinsGA (p.Asp405=) c.1144_1145delinsGA (p.Asp382=) | |
2 | g.202532670del | CA645293824 | BMPR2 | c.1214del (p.Asp405AlafsTer7) c.1145del (p.Asp382AlafsTer7) | ClinVar dbSNP |
2 | g.202532670A>C | CA350341869 | BMPR2 | c.1214A>C (p.Asp405Ala) c.1145A>C (p.Asp382Ala) | |
2 | g.202532670A>G | CA350341871 | BMPR2 | c.1214A>G (p.Asp405Gly) c.1145A>G (p.Asp382Gly) | |
2 | g.202532670A>T | CA350341870 | BMPR2 | c.1214A>T (p.Asp405Val) c.1145A>T (p.Asp382Val) | |
2 | g.202532671C>A | CA350341872 | BMPR2 | c.1215C>A (p.Asp405Glu) c.1146C>A (p.Asp382Glu) | |
2 | g.202532671C= | CA1321545672 | BMPR2 | c.1215C= (p.Asp405=) c.1146C= (p.Asp382=) | |
2 | g.202532671C>G | CA350341873 | BMPR2 | c.1215C>G (p.Asp405Glu) c.1146C>G (p.Asp382Glu) | |
2 | g.202532671C>T | CA2061318 | BMPR2 | c.1215C>T (p.Asp405=) c.1146C>T (p.Asp382=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532672A= | CA1321545673 | BMPR2 | c.1216A= (p.Met406=) c.1147A= (p.Met383=) | |
2 | g.202532672A>C | CA350341874 | BMPR2 | c.1216A>C (p.Met406Leu) c.1147A>C (p.Met383Leu) | |
2 | g.202532672A>G | CA350341875 | BMPR2 | c.1216A>G (p.Met406Val) c.1147A>G (p.Met383Val) | dbSNP |
2 | g.202532672A>T | CA350341876 | BMPR2 | c.1216A>T (p.Met406Leu) c.1147A>T (p.Met383Leu) | |
2 | g.202532673T>A | CA350341877 | BMPR2 | c.1217T>A (p.Met406Lys) c.1148T>A (p.Met383Lys) | gnomAD v4 |
2 | g.202532673T>C | CA350341878 | BMPR2 | c.1217T>C (p.Met406Thr) c.1148T>C (p.Met383Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202532673T>G | CA350341879 | BMPR2 | c.1217T>G (p.Met406Arg) c.1148T>G (p.Met383Arg) | ClinVar dbSNP |
2 | g.202532673T= | CA1321545674 | BMPR2 | c.1217T= (p.Met406=) c.1148T= (p.Met383=) | |
2 | g.202532674G>A | CA350341882 | BMPR2 | c.1218G>A (p.Met406Ile) c.1149G>A (p.Met383Ile) | gnomAD v4 |
2 | g.202532674G>C | CA350341881 | BMPR2 | c.1218G>C (p.Met406Ile) c.1149G>C (p.Met383Ile) | dbSNP |
2 | g.202532674G= | CA1321545675 | BMPR2 | c.1218G= (p.Met406=) c.1149G= (p.Met383=) | |
2 | g.202532674G>T | CA350341880 | BMPR2 | c.1218G>T (p.Met406Ile) c.1149G>T (p.Met383Ile) | |
2 | g.202532675T>A | CA350341883 | BMPR2 | c.1219T>A (p.Tyr407Asn) c.1150T>A (p.Tyr384Asn) | |
2 | g.202532675T>C | CA350341884 | BMPR2 | c.1219T>C (p.Tyr407His) c.1150T>C (p.Tyr384His) | gnomAD v4 |
2 | g.202532675T>G | CA350341885 | BMPR2 | c.1219T>G (p.Tyr407Asp) c.1150T>G (p.Tyr384Asp) | |
2 | g.202532676A= | CA1321545676 | BMPR2 | c.1220A= (p.Tyr407=) c.1151A= (p.Tyr384=) | |
2 | g.202532676A>C | CA350341886 | BMPR2 | c.1220A>C (p.Tyr407Ser) c.1151A>C (p.Tyr384Ser) | ClinVar dbSNP |
2 | g.202532676A>G | CA350341887 | BMPR2 | c.1220A>G (p.Tyr407Cys) c.1151A>G (p.Tyr384Cys) | ClinVar |
2 | g.202532676A>T | CA350341888 | BMPR2 | c.1220A>T (p.Tyr407Phe) c.1151A>T (p.Tyr384Phe) | |
2 | g.202532677T>A | CA350341889 | BMPR2 | c.1221T>A (p.Tyr407Ter) c.1152T>A (p.Tyr384Ter) | |
2 | g.202532677T>C | CA430849745 | BMPR2 | c.1221T>C (p.Tyr407=) c.1152T>C (p.Tyr384=) | |
2 | g.202532677T>G | CA350341890 | BMPR2 | c.1221T>G (p.Tyr407Ter) c.1152T>G (p.Tyr384Ter) | ClinVar dbSNP |
2 | g.202532677T= | CA1321545677 | BMPR2 | c.1221T= (p.Tyr407=) c.1152T= (p.Tyr384=) | |
2 | g.202532678G>A | CA350341891 | BMPR2 | c.1222G>A (p.Ala408Thr) c.1153G>A (p.Ala385Thr) | |
2 | g.202532678G>C | CA350341892 | BMPR2 | c.1222G>C (p.Ala408Pro) c.1153G>C (p.Ala385Pro) | |
2 | g.202532678G>T | CA350341893 | BMPR2 | c.1222G>T (p.Ala408Ser) c.1153G>T (p.Ala385Ser) | |
2 | g.202532679C>A | CA350341896 | BMPR2 | c.1223C>A (p.Ala408Asp) c.1154C>A (p.Ala385Asp) | |
2 | g.202532679C>G | CA350341895 | BMPR2 | c.1223C>G (p.Ala408Gly) c.1154C>G (p.Ala385Gly) | |
2 | g.202532679C>T | CA350341894 | BMPR2 | c.1223C>T (p.Ala408Val) c.1154C>T (p.Ala385Val) | |
2 | g.202532680T>A | CA430849763 | BMPR2 | c.1224T>A (p.Ala408=) c.1155T>A (p.Ala385=) | |
2 | g.202532680T>C | CA2061319 | BMPR2 | c.1224T>C (p.Ala408=) c.1155T>C (p.Ala385=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532680T>G | CA430849768 | BMPR2 | c.1224T>G (p.Ala408=) c.1155T>G (p.Ala385=) | |
2 | g.202532680T= | CA1321545678 | BMPR2 | c.1224T= (p.Ala408=) c.1155T= (p.Ala385=) | |
2 | g.202532681C>A | CA350341897 | BMPR2 | c.1225C>A (p.Leu409Ile) c.1156C>A (p.Leu386Ile) | |
2 | g.202532681C>G | CA350341898 | BMPR2 | c.1225C>G (p.Leu409Val) c.1156C>G (p.Leu386Val) | |
2 | g.202532681C>T | CA350341899 | BMPR2 | c.1225C>T (p.Leu409Phe) c.1156C>T (p.Leu386Phe) | COSMIC |
2 | g.202532682T>A | CA350341900 | BMPR2 | c.1226T>A (p.Leu409His) c.1157T>A (p.Leu386His) | |
2 | g.202532682T>C | CA350341901 | BMPR2 | c.1226T>C (p.Leu409Pro) c.1157T>C (p.Leu386Pro) | |
2 | g.202532682T>G | CA350341902 | BMPR2 | c.1226T>G (p.Leu409Arg) c.1157T>G (p.Leu386Arg) | |
2 | g.202532683T>A | CA430849787 | BMPR2 | c.1227T>A (p.Leu409=) c.1158T>A (p.Leu386=) | |
2 | g.202532683T>C | CA430849785 | BMPR2 | c.1227T>C (p.Leu409=) c.1158T>C (p.Leu386=) | |
2 | g.202532683T>G | CA430849783 | BMPR2 | c.1227T>G (p.Leu409=) c.1158T>G (p.Leu386=) | |
2 | g.202532684G>A | CA350341903 | BMPR2 | c.1228G>A (p.Gly410Arg) c.1159G>A (p.Gly387Arg) | ClinVar dbSNP |
2 | g.202532684G>C | CA350341904 | BMPR2 | c.1228G>C (p.Gly410Arg) c.1159G>C (p.Gly387Arg) | ClinVar dbSNP |
2 | g.202532684G= | CA1321545679 | BMPR2 | c.1228G= (p.Gly410=) c.1159G= (p.Gly387=) | |
2 | g.202532684G>T | CA350341905 | BMPR2 | c.1228G>T (p.Gly410Ter) c.1159G>T (p.Gly387Ter) | |
2 | g.202532687_202532700del | CA2586971102 | BMPR2 | c.1231_1244del (p.Leu411AspfsTer?) c.1162_1175del (p.Leu388AspfsTer?) | |
2 | g.202532685G>A | CA350341906 | BMPR2 | c.1229G>A (p.Gly410Glu) c.1160G>A (p.Gly387Glu) | |
2 | g.202532685G>C | CA350341907 | BMPR2 | c.1229G>C (p.Gly410Ala) c.1160G>C (p.Gly387Ala) | |
2 | g.202532685G= | CA1321545680 | BMPR2 | c.1229G= (p.Gly410=) c.1160G= (p.Gly387=) | |
2 | g.202532685G>T | CA350341908 | BMPR2 | c.1229G>T (p.Gly410Val) c.1160G>T (p.Gly387Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.202532686A>C | CA430849803 | BMPR2 | c.1230A>C (p.Gly410=) c.1161A>C (p.Gly387=) | |
2 | g.202532686A>G | CA430849810 | BMPR2 | c.1230A>G (p.Gly410=) c.1161A>G (p.Gly387=) | |
2 | g.202532686A>T | CA430849806 | BMPR2 | c.1230A>T (p.Gly410=) c.1161A>T (p.Gly387=) | |
2 | g.202532687C>A | CA350341910 | BMPR2 | c.1231C>A (p.Leu411Ile) c.1162C>A (p.Leu388Ile) | |
2 | g.202532687C= | CA1321545681 | BMPR2 | c.1231C= (p.Leu411=) c.1162C= (p.Leu388=) | |
2 | g.202532687C>G | CA350341909 | BMPR2 | c.1231C>G (p.Leu411Val) c.1162C>G (p.Leu388Val) | |
2 | g.202532687C>T | CA430849814 | BMPR2 | c.1231C>T (p.Leu411=) c.1162C>T (p.Leu388=) | dbSNP |
2 | g.202532688T>A | CA350341911 | BMPR2 | c.1232T>A (p.Leu411Gln) c.1163T>A (p.Leu388Gln) | |
2 | g.202532688T>C | CA350341913 | BMPR2 | c.1232T>C (p.Leu411Pro) c.1163T>C (p.Leu388Pro) | |
2 | g.202532688T>G | CA350341912 | BMPR2 | c.1232T>G (p.Leu411Arg) c.1163T>G (p.Leu388Arg) | |
2 | g.202532688T= | CA1321545682 | BMPR2 | c.1232T= (p.Leu411=) c.1163T= (p.Leu388=) | |
2 | g.202532689A= | CA1321545683 | BMPR2 | c.1233A= (p.Leu411=) c.1164A= (p.Leu388=) | |
2 | g.202532689A>C | CA430849820 | BMPR2 | c.1233A>C (p.Leu411=) c.1164A>C (p.Leu388=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202532689A>G | CA430849826 | BMPR2 | c.1233A>G (p.Leu411=) c.1164A>G (p.Leu388=) | |
2 | g.202532689A>T | CA430849827 | BMPR2 | c.1233A>T (p.Leu411=) c.1164A>T (p.Leu388=) | |
2 | g.202532689_202532692dup | CA1139657615 | BMPR2 | c.1233_1236dup (p.Tyr413AsnfsTer?) c.1164_1167dup (p.Tyr390AsnfsTer?) | ClinVar dbSNP |
2 | g.202532690A= | CA1321545684 | BMPR2 | c.1234A= (p.Ile412=) c.1165A= (p.Ile389=) | |
2 | g.202532690A>C | CA350341914 | BMPR2 | c.1234A>C (p.Ile412Leu) c.1165A>C (p.Ile389Leu) | |
2 | g.202532690A>G | CA64029565 | BMPR2 | c.1234A>G (p.Ile412Val) c.1165A>G (p.Ile389Val) | dbSNP gnomAD v4 |
2 | g.202532690A>T | CA350341915 | BMPR2 | c.1234A>T (p.Ile412Phe) c.1165A>T (p.Ile389Phe) | |
2 | g.202532691T>A | CA350341916 | BMPR2 | c.1235T>A (p.Ile412Asn) c.1166T>A (p.Ile389Asn) | |
2 | g.202532691T>C | CA350341917 | BMPR2 | c.1235T>C (p.Ile412Thr) c.1166T>C (p.Ile389Thr) | |
2 | g.202532691T>G | CA350341918 | BMPR2 | c.1235T>G (p.Ile412Ser) c.1166T>G (p.Ile389Ser) | |
2 | g.202532692C>A | CA430849834 | BMPR2 | c.1236C>A (p.Ile412=) c.1167C>A (p.Ile389=) | |
2 | g.202532692C>G | CA350341919 | BMPR2 | c.1236C>G (p.Ile412Met) c.1167C>G (p.Ile389Met) | |
2 | g.202532692C>T | CA430849837 | BMPR2 | c.1236C>T (p.Ile412=) c.1167C>T (p.Ile389=) | |
2 | g.202532693T>A | CA350341920 | BMPR2 | c.1237T>A (p.Tyr413Asn) c.1168T>A (p.Tyr390Asn) | |
2 | g.202532693T>C | CA350341921 | BMPR2 | c.1237T>C (p.Tyr413His) c.1168T>C (p.Tyr390His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532693T>G | CA350341922 | BMPR2 | c.1237T>G (p.Tyr413Asp) c.1168T>G (p.Tyr390Asp) | |
2 | g.202532693T= | CA1321545685 | BMPR2 | c.1237T= (p.Tyr413=) c.1168T= (p.Tyr390=) | |
2 | g.202532694A>C | CA350341925 | BMPR2 | c.1238A>C (p.Tyr413Ser) c.1169A>C (p.Tyr390Ser) | |
2 | g.202532694A>G | CA350341924 | BMPR2 | c.1238A>G (p.Tyr413Cys) c.1169A>G (p.Tyr390Cys) | gnomAD v4 |
2 | g.202532694A>T | CA350341923 | BMPR2 | c.1238A>T (p.Tyr413Phe) c.1169A>T (p.Tyr390Phe) | |
2 | g.202532695T>A | CA350341926 | BMPR2 | c.1239T>A (p.Tyr413Ter) c.1170T>A (p.Tyr390Ter) | |
2 | g.202532695T>C | CA2061320 | BMPR2 | c.1239T>C (p.Tyr413=) c.1170T>C (p.Tyr390=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532695T>G | CA350341927 | BMPR2 | c.1239T>G (p.Tyr413Ter) c.1170T>G (p.Tyr390Ter) | |
2 | g.202532695T= | CA1321545686 | BMPR2 | c.1239T= (p.Tyr413=) c.1170T= (p.Tyr390=) | |
2 | g.202532696T>A | CA350341928 | BMPR2 | c.1240T>A (p.Trp414Arg) c.1171T>A (p.Trp391Arg) | |
2 | g.202532696T>C | CA350341929 | BMPR2 | c.1240T>C (p.Trp414Arg) c.1171T>C (p.Trp391Arg) | |
2 | g.202532696T>G | CA350341930 | BMPR2 | c.1240T>G (p.Trp414Gly) c.1171T>G (p.Trp391Gly) | |
2 | g.202532697G>A | CA350341931 | BMPR2 | c.1241G>A (p.Trp414Ter) c.1172G>A (p.Trp391Ter) | ClinVar dbSNP |
2 | g.202532697G>C | CA350341932 | BMPR2 | c.1241G>C (p.Trp414Ser) c.1172G>C (p.Trp391Ser) | |
2 | g.202532697G= | CA1321545687 | BMPR2 | c.1241G= (p.Trp414=) c.1172G= (p.Trp391=) | |
2 | g.202532697G>T | CA350341933 | BMPR2 | c.1241G>T (p.Trp414Leu) c.1172G>T (p.Trp391Leu) |