Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202532598_202532599dup | CA658796144 | BMPR2 | c.1142_1143dup (p.Tyr382AspfsTer8) c.1073_1074dup (p.Tyr359AspfsTer8) | ClinVar dbSNP |
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) |