| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202532711_202532713dup | CA915941651 | BMPR2 | c.1255_1257dup (p.Arg419_Cys420insArg) c.1186_1188dup (p.Arg396_Cys397insArg) | ClinVar dbSNP |
| 2 | g.202532713A= | CA1321545695 | BMPR2 | c.1257A= (p.Arg419=) c.1188A= (p.Arg396=) | |
| 2 | g.202532713A>C | CA350341974 | BMPR2 | c.1257A>C (p.Arg419Ser) c.1188A>C (p.Arg396Ser) | |
| 2 | g.202532713A>G | CA430849936 | BMPR2 | c.1257A>G (p.Arg419=) c.1188A>G (p.Arg396=) | |
| 2 | g.202532713A>T | CA350341975 | BMPR2 | c.1257A>T (p.Arg419Ser) c.1188A>T (p.Arg396Ser) | ClinVar dbSNP gnomAD v4 |
| 2 | g.202532714T>A | CA350341976 | BMPR2 | c.1258T>A (p.Cys420Ser) c.1189T>A (p.Cys397Ser) | |
| 2 | g.202532714T>C | CA350341977 | BMPR2 | c.1258T>C (p.Cys420Arg) c.1189T>C (p.Cys397Arg) | ClinVar dbSNP |
| 2 | g.202532714T>G | CA350341978 | BMPR2 | c.1258T>G (p.Cys420Gly) c.1189T>G (p.Cys397Gly) | |
| 2 | g.202532714T= | CA1321545696 | BMPR2 | c.1258T= (p.Cys420=) c.1189T= (p.Cys397=) | |
| 2 | g.202532715G>A | CA350341979 | BMPR2 | c.1259G>A (p.Cys420Tyr) c.1190G>A (p.Cys397Tyr) | ClinVar dbSNP |
| 2 | g.202532715G>C | CA350341980 | BMPR2 | c.1259G>C (p.Cys420Ser) c.1190G>C (p.Cys397Ser) | |
| 2 | g.202532715G= | CA1321545697 | BMPR2 | c.1259G= (p.Cys420=) c.1190G= (p.Cys397=) | |
| 2 | g.202532715G>T | CA350341981 | BMPR2 | c.1259G>T (p.Cys420Phe) c.1190G>T (p.Cys397Phe) | |
| 2 | g.202532716T>A | CA350341982 | BMPR2 | c.1260T>A (p.Cys420Ter) c.1191T>A (p.Cys397Ter) | |
| 2 | g.202532716T>C | CA430849963 | BMPR2 | c.1260T>C (p.Cys420=) c.1191T>C (p.Cys397=) | |
| 2 | g.202532716T>G | CA350341983 | BMPR2 | c.1260T>G (p.Cys420Trp) c.1191T>G (p.Cys397Trp) | |
| 2 | g.202532717A>C | CA350341984 | BMPR2 | c.1261A>C (p.Thr421Pro) c.1192A>C (p.Thr398Pro) | |
| 2 | g.202532717A>G | CA350341985 | BMPR2 | c.1261A>G (p.Thr421Ala) c.1192A>G (p.Thr398Ala) | gnomAD v4 |
| 2 | g.202532717A>T | CA350341986 | BMPR2 | c.1261A>T (p.Thr421Ser) c.1192A>T (p.Thr398Ser) | |
| 2 | g.202532718C>A | CA350341989 | BMPR2 | c.1262C>A (p.Thr421Lys) c.1193C>A (p.Thr398Lys) | |
| 2 | g.202532718C>G | CA350341987 | BMPR2 | c.1262C>G (p.Thr421Arg) c.1193C>G (p.Thr398Arg) | |
| 2 | g.202532718C>T | CA350341988 | BMPR2 | c.1262C>T (p.Thr421Ile) c.1193C>T (p.Thr398Ile) | |
| 2 | g.202532719A= | CA1321545698 | BMPR2 | c.1263A= (p.Thr421=) c.1194A= (p.Thr398=) | |
| 2 | g.202532719A>C | CA430849976 | BMPR2 | c.1263A>C (p.Thr421=) c.1194A>C (p.Thr398=) | |
| 2 | g.202532719A>G | CA64029570 | BMPR2 | c.1263A>G (p.Thr421=) c.1194A>G (p.Thr398=) | dbSNP gnomAD v4 |
| 2 | g.202532719A>T | CA430849977 | BMPR2 | c.1263A>T (p.Thr421=) c.1194A>T (p.Thr398=) | |
| 2 | g.202532720G>A | CA350341990 | BMPR2 | c.1264G>A (p.Asp422Asn) c.1195G>A (p.Asp399Asn) | |
| 2 | g.202532720G>C | CA350341991 | BMPR2 | c.1264G>C (p.Asp422His) c.1195G>C (p.Asp399His) | |
| 2 | g.202532720G>T | CA350341992 | BMPR2 | c.1264G>T (p.Asp422Tyr) c.1195G>T (p.Asp399Tyr) | |
| 2 | g.202532721A= | CA1321545699 | BMPR2 | c.1265A= (p.Asp422=) c.1196A= (p.Asp399=) | |
| 2 | g.202532721A>C | CA350341993 | BMPR2 | c.1265A>C (p.Asp422Ala) c.1196A>C (p.Asp399Ala) | |
| 2 | g.202532721A>G | CA2061321 | BMPR2 | c.1265A>G (p.Asp422Gly) c.1196A>G (p.Asp399Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.202532721A>T | CA350341994 | BMPR2 | c.1265A>T (p.Asp422Val) c.1196A>T (p.Asp399Val) | |
| 2 | g.202532722C>A | CA350341995 | BMPR2 | c.1266C>A (p.Asp422Glu) c.1197C>A (p.Asp399Glu) | |
| 2 | g.202532722C>G | CA350341996 | BMPR2 | c.1266C>G (p.Asp422Glu) c.1197C>G (p.Asp399Glu) | gnomAD v4 |
| 2 | g.202532722C>T | CA430849999 | BMPR2 | c.1266C>T (p.Asp422=) c.1197C>T (p.Asp399=) | |
| 2 | g.202532723C>A | CA350341997 | BMPR2 | c.1267C>A (p.Leu423Ile) c.1198C>A (p.Leu400Ile) | |
| 2 | g.202532723C= | CA1321545700 | BMPR2 | c.1267C= (p.Leu423=) c.1198C= (p.Leu400=) | |
| 2 | g.202532723C>G | CA350341998 | BMPR2 | c.1267C>G (p.Leu423Val) c.1198C>G (p.Leu400Val) | |
| 2 | g.202532723C>T | CA350341999 | BMPR2 | c.1267C>T (p.Leu423Phe) c.1198C>T (p.Leu400Phe) | gnomAD v4 |
| 2 | g.202532724T>A | CA350342001 | BMPR2 | c.1268T>A (p.Leu423His) c.1199T>A (p.Leu400His) | gnomAD v4 |
| 2 | g.202532724T>C | CA350342002 | BMPR2 | c.1268T>C (p.Leu423Pro) c.1199T>C (p.Leu400Pro) | |
| 2 | g.202532724T>G | CA350342000 | BMPR2 | c.1268T>G (p.Leu423Arg) c.1199T>G (p.Leu400Arg) | |
| 2 | g.202532724dup | CA645293830 | BMPR2 | c.1268dup (p.Phe424LeufsTer24) c.1199dup (p.Phe401LeufsTer24) | ClinVar dbSNP |
| 2 | g.202532724_202532731delinsTCTTCCCA | CA1321545701 | BMPR2 | c.1268_1275delinsTCTTCCCA (p.Leu423=) c.1199_1206delinsTCTTCCCA (p.Leu400=) | |
| 2 | g.202532725C>A | CA430850008 | BMPR2 | c.1269C>A (p.Leu423=) c.1200C>A (p.Leu400=) | |
| 2 | g.202532725C= | CA1321545702 | BMPR2 | c.1269C= (p.Leu423=) c.1200C= (p.Leu400=) | |
| 2 | g.202532725C>G | CA430850010 | BMPR2 | c.1269C>G (p.Leu423=) c.1200C>G (p.Leu400=) | |
| 2 | g.202532725C>T | CA2061323 | BMPR2 | c.1269C>T (p.Leu423=) c.1200C>T (p.Leu400=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.202532725_202532731del | CA2061322 | BMPR2 | c.1269_1275del (p.Phe424GlyfsTer?) c.1200_1206del (p.Phe401GlyfsTer?) | dbSNP ExAC gnomAD v2 |