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