Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202532647_202532648delCA645293823BMPR2c.1191_1192del (p.Cys397Ter)
c.1122_1123del (p.Cys374Ter)
 ClinVar dbSNP
2g.202532647T>ACA350341816BMPR2c.1191T>A (p.Cys397Ter)
c.1122T>A (p.Cys374Ter)
2g.202532647T>CCA430849600BMPR2c.1191T>C (p.Cys397=)
c.1122T>C (p.Cys374=)
2g.202532647T>GCA350341817BMPR2c.1191T>G (p.Cys397Trp)
c.1122T>G (p.Cys374Trp)
2g.202532648G>ACA350341818BMPR2c.1192G>A (p.Glu398Lys)
c.1123G>A (p.Glu375Lys)
2g.202532648G>CCA350341819BMPR2c.1192G>C (p.Glu398Gln)
c.1123G>C (p.Glu375Gln)
2g.202532648G>TCA350341820BMPR2c.1192G>T (p.Glu398Ter)
c.1123G>T (p.Glu375Ter)
2g.202532649A=CA1321545665BMPR2c.1193A= (p.Glu398=)
c.1124A= (p.Glu375=)
2g.202532649A>CCA350341821BMPR2c.1193A>C (p.Glu398Ala)
c.1124A>C (p.Glu375Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.202532649A>GCA350341822BMPR2c.1193A>G (p.Glu398Gly)
c.1124A>G (p.Glu375Gly)
2g.202532649A>TCA350341823BMPR2c.1193A>T (p.Glu398Val)
c.1124A>T (p.Glu375Val)
2g.202532650A>CCA350341825BMPR2c.1194A>C (p.Glu398Asp)
c.1125A>C (p.Glu375Asp)
2g.202532650A>GCA430849606BMPR2c.1194A>G (p.Glu398=)
c.1125A>G (p.Glu375=)
2g.202532650A>TCA350341824BMPR2c.1194A>T (p.Glu398Asp)
c.1125A>T (p.Glu375Asp)
2g.202532651T>ACA350341826BMPR2c.1195T>A (p.Ser399Thr)
c.1126T>A (p.Ser376Thr)
2g.202532651T>CCA350341827BMPR2c.1195T>C (p.Ser399Pro)
c.1126T>C (p.Ser376Pro)
2g.202532651T>GCA350341828BMPR2c.1195T>G (p.Ser399Ala)
c.1126T>G (p.Ser376Ala)
2g.202532652C>ACA350341829BMPR2c.1196C>A (p.Ser399Ter)
c.1127C>A (p.Ser376Ter)
2g.202532652C=CA1321545667BMPR2c.1196C= (p.Ser399=)
c.1127C= (p.Ser376=)
2g.202532652C>GCA350341830BMPR2c.1196C>G (p.Ser399Ter)
c.1127C>G (p.Ser376Ter)
 ClinVar dbSNP
2g.202532652C>TCA350341831BMPR2c.1196C>T (p.Ser399Leu)
c.1127C>T (p.Ser376Leu)
2g.202532652_202532653delinsCACA1321545666BMPR2c.1196_1197delinsCA (p.Ser399=)
c.1127_1128delinsCA (p.Ser376=)
2g.202532653delCA1041321268BMPR2c.1197del (p.Ala400LeufsTer2)
c.1128del (p.Ala377LeufsTer2)
 dbSNP gnomAD v3 gnomAD v4
2g.202532653A>CCA430849615BMPR2c.1197A>C (p.Ser399=)
c.1128A>C (p.Ser376=)
2g.202532653A>GCA430849617BMPR2c.1197A>G (p.Ser399=)
c.1128A>G (p.Ser376=)
 gnomAD v4
2g.202532653A>TCA430849618BMPR2c.1197A>T (p.Ser399=)
c.1128A>T (p.Ser376=)
2g.202532654G>ACA350341832BMPR2c.1198G>A (p.Ala400Thr)
c.1129G>A (p.Ala377Thr)
2g.202532654G>CCA350341834BMPR2c.1198G>C (p.Ala400Pro)
c.1129G>C (p.Ala377Pro)
2g.202532654G>TCA350341833BMPR2c.1198G>T (p.Ala400Ser)
c.1129G>T (p.Ala377Ser)
2g.202532655C>ACA350341835BMPR2c.1199C>A (p.Ala400Asp)
c.1130C>A (p.Ala377Asp)
2g.202532655C>GCA350341836BMPR2c.1199C>G (p.Ala400Gly)
c.1130C>G (p.Ala377Gly)
2g.202532655C>TCA350341837BMPR2c.1199C>T (p.Ala400Val)
c.1130C>T (p.Ala377Val)
2g.202532656T>ACA430849635BMPR2c.1200T>A (p.Ala400=)
c.1131T>A (p.Ala377=)
2g.202532656T>CCA430849636BMPR2c.1200T>C (p.Ala400=)
c.1131T>C (p.Ala377=)
2g.202532656T>GCA430849637BMPR2c.1200T>G (p.Ala400=)
c.1131T>G (p.Ala377=)
2g.202532657T>ACA350341838BMPR2c.1201T>A (p.Leu401Met)
c.1132T>A (p.Leu378Met)
2g.202532657T>CCA430849640BMPR2c.1201T>C (p.Leu401=)
c.1132T>C (p.Leu378=)
2g.202532657T>GCA350341839BMPR2c.1201T>G (p.Leu401Val)
c.1132T>G (p.Leu378Val)
2g.202532658T>ACA350341840BMPR2c.1202T>A (p.Leu401Ter)
c.1133T>A (p.Leu378Ter)
2g.202532658T>CCA350341841BMPR2c.1202T>C (p.Leu401Ser)
c.1133T>C (p.Leu378Ser)
 ClinVar dbSNP
2g.202532658T>GCA350341842BMPR2c.1202T>G (p.Leu401Trp)
c.1133T>G (p.Leu378Trp)
2g.202532658T=CA1321545668BMPR2c.1202T= (p.Leu401=)
c.1133T= (p.Leu378=)
2g.202532659G>ACA430849654BMPR2c.1203G>A (p.Leu401=)
c.1134G>A (p.Leu378=)
2g.202532659G>CCA350341843BMPR2c.1203G>C (p.Leu401Phe)
c.1134G>C (p.Leu378Phe)
2g.202532659G>TCA350341844BMPR2c.1203G>T (p.Leu401Phe)
c.1134G>T (p.Leu378Phe)
2g.202532660A>CCA350341845BMPR2c.1204A>C (p.Lys402Gln)
c.1135A>C (p.Lys379Gln)
2g.202532660A>GCA350341847BMPR2c.1204A>G (p.Lys402Glu)
c.1135A>G (p.Lys379Glu)
2g.202532660A>TCA350341846BMPR2c.1204A>T (p.Lys402Ter)
c.1135A>T (p.Lys379Ter)
2g.202532662delCA2499215575BMPR2c.1206del (p.Lys402AsnfsTer3)
c.1137del (p.Lys379AsnfsTer3)
 ClinVar dbSNP
2g.202532661A>CCA350341848BMPR2c.1205A>C (p.Lys402Thr)
c.1136A>C (p.Lys379Thr)

Number of alleles fetched