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