Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |