Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202532613A=CA1321545655BMPR2c.1157A= (p.Glu386=)
c.1088A= (p.Glu363=)
2g.202532613A>CCA350341739BMPR2c.1157A>C (p.Glu386Ala)
c.1088A>C (p.Glu363Ala)
ClinVar dbSNP
2g.202532613A>GCA350341740BMPR2c.1157A>G (p.Glu386Gly)
c.1088A>G (p.Glu363Gly)
ClinVar dbSNP COSMIC
2g.202532613A>TCA350341741BMPR2c.1157A>T (p.Glu386Val)
c.1088A>T (p.Glu363Val)
ClinVar dbSNP
2g.202532614A>CCA350341742BMPR2c.1158A>C (p.Glu386Asp)
c.1089A>C (p.Glu363Asp)
2g.202532614A>GCA430849455BMPR2c.1158A>G (p.Glu386=)
c.1089A>G (p.Glu363=)
2g.202532614A>TCA350341743BMPR2c.1158A>T (p.Glu386Asp)
c.1089A>T (p.Glu363Asp)
2g.202532615G>ACA350341744BMPR2c.1159G>A (p.Val387Met)
c.1090G>A (p.Val364Met)
2g.202532615G>CCA350341745BMPR2c.1159G>C (p.Val387Leu)
c.1090G>C (p.Val364Leu)
2g.202532615G>TCA350341746BMPR2c.1159G>T (p.Val387Leu)
c.1090G>T (p.Val364Leu)
2g.202532616T>ACA350341747BMPR2c.1160T>A (p.Val387Glu)
c.1091T>A (p.Val364Glu)
2g.202532616T>CCA350341748BMPR2c.1160T>C (p.Val387Ala)
c.1091T>C (p.Val364Ala)
2g.202532616T>GCA350341749BMPR2c.1160T>G (p.Val387Gly)
c.1091T>G (p.Val364Gly)
2g.202532617delCA2586971101BMPR2c.1161del (p.Leu388Ter)
c.1092del (p.Leu365Ter)
2g.202532617G>ACA64029547BMPR2c.1161G>A (p.Val387=)
c.1092G>A (p.Val364=)
dbSNP
2g.202532617G>CCA430849466BMPR2c.1161G>C (p.Val387=)
c.1092G>C (p.Val364=)
2g.202532617G=CA1321545656BMPR2c.1161G= (p.Val387=)
c.1092G= (p.Val364=)
2g.202532617G>TCA430849468BMPR2c.1161G>T (p.Val387=)
c.1092G>T (p.Val364=)
2g.202532618C>ACA350341750BMPR2c.1162C>A (p.Leu388Ile)
c.1093C>A (p.Leu365Ile)
2g.202532618C>GCA350341751BMPR2c.1162C>G (p.Leu388Val)
c.1093C>G (p.Leu365Val)
2g.202532618C>TCA430849472BMPR2c.1162C>T (p.Leu388=)
c.1093C>T (p.Leu365=)
2g.202532619T>ACA350341752BMPR2c.1163T>A (p.Leu388Gln)
c.1094T>A (p.Leu365Gln)
2g.202532619T>CCA350341753BMPR2c.1163T>C (p.Leu388Pro)
c.1094T>C (p.Leu365Pro)
2g.202532619T>GCA350341754BMPR2c.1163T>G (p.Leu388Arg)
c.1094T>G (p.Leu365Arg)
2g.202532620A=CA1321545657BMPR2c.1164A= (p.Leu388=)
c.1095A= (p.Leu365=)
2g.202532620A>CCA430849480BMPR2c.1164A>C (p.Leu388=)
c.1095A>C (p.Leu365=)
2g.202532620A>GCA430849482BMPR2c.1164A>G (p.Leu388=)
c.1095A>G (p.Leu365=)
2g.202532620A>TCA2061315BMPR2c.1164A>T (p.Leu388=)
c.1095A>T (p.Leu365=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202532621G>ACA350341755BMPR2c.1165G>A (p.Glu389Lys)
c.1096G>A (p.Glu366Lys)
2g.202532621G>CCA350341757BMPR2c.1165G>C (p.Glu389Gln)
c.1096G>C (p.Glu366Gln)
2g.202532621G>TCA350341756BMPR2c.1165G>T (p.Glu389Ter)
c.1096G>T (p.Glu366Ter)
2g.202532622A>CCA350341758BMPR2c.1166A>C (p.Glu389Ala)
c.1097A>C (p.Glu366Ala)
2g.202532622A>GCA350341759BMPR2c.1166A>G (p.Glu389Gly)
c.1097A>G (p.Glu366Gly)
COSMIC
2g.202532622A>TCA350341760BMPR2c.1166A>T (p.Glu389Val)
c.1097A>T (p.Glu366Val)
2g.202532623A>CCA350341761BMPR2c.1167A>C (p.Glu389Asp)
c.1098A>C (p.Glu366Asp)
2g.202532623A>GCA430849500BMPR2c.1167A>G (p.Glu389=)
c.1098A>G (p.Glu366=)
2g.202532623A>TCA350341762BMPR2c.1167A>T (p.Glu389Asp)
c.1098A>T (p.Glu366Asp)
2g.202532624G>ACA350341763BMPR2c.1168G>A (p.Gly390Arg)
c.1099G>A (p.Gly367Arg)
dbSNP COSMIC
2g.202532624G>CCA350341764BMPR2c.1168G>C (p.Gly390Arg)
c.1099G>C (p.Gly367Arg)
2g.202532624G=CA1321545658BMPR2c.1168G= (p.Gly390=)
c.1099G= (p.Gly367=)
2g.202532624G>TCA350341765BMPR2c.1168G>T (p.Gly390Ter)
c.1099G>T (p.Gly367Ter)
COSMIC
2g.202532625delCA2580065453BMPR2c.1169del (p.Gly390GlufsTer3)
c.1100del (p.Gly367GlufsTer3)
ClinVar
2g.202532625G>ACA350341766BMPR2c.1169G>A (p.Gly390Glu)
c.1100G>A (p.Gly367Glu)
2g.202532625G>CCA350341767BMPR2c.1169G>C (p.Gly390Ala)
c.1100G>C (p.Gly367Ala)
2g.202532625G>TCA350341768BMPR2c.1169G>T (p.Gly390Val)
c.1100G>T (p.Gly367Val)
2g.202532626A>CCA430849511BMPR2c.1170A>C (p.Gly390=)
c.1101A>C (p.Gly367=)
2g.202532626A>GCA430849514BMPR2c.1170A>G (p.Gly390=)
c.1101A>G (p.Gly367=)
2g.202532626A>TCA430849515BMPR2c.1170A>T (p.Gly390=)
c.1101A>T (p.Gly367=)
2g.202532627G>ACA350341771BMPR2c.1171G>A (p.Ala391Thr)
c.1102G>A (p.Ala368Thr)
ClinVar dbSNP
2g.202532627G>CCA350341770BMPR2c.1171G>C (p.Ala391Pro)
c.1102G>C (p.Ala368Pro)

Number of alleles fetched