Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.202532661A>GCA350341850BMPR2c.1205A>G (p.Lys402Arg)
c.1136A>G (p.Lys379Arg)
 gnomAD v4
2g.202532661A>TCA350341849BMPR2c.1205A>T (p.Lys402Ile)
c.1136A>T (p.Lys379Ile)
2g.202532662A>CCA350341851BMPR2c.1206A>C (p.Lys402Asn)
c.1137A>C (p.Lys379Asn)
2g.202532662A>GCA430849671BMPR2c.1206A>G (p.Lys402=)
c.1137A>G (p.Lys379=)
2g.202532662A>TCA350341852BMPR2c.1206A>T (p.Lys402Asn)
c.1137A>T (p.Lys379Asn)
2g.202532663C>ACA350341853BMPR2c.1207C>A (p.Gln403Lys)
c.1138C>A (p.Gln380Lys)
2g.202532663C=CA1321545669BMPR2c.1207C= (p.Gln403=)
c.1138C= (p.Gln380=)
2g.202532663C>GCA350341854BMPR2c.1207C>G (p.Gln403Glu)
c.1138C>G (p.Gln380Glu)
 gnomAD v4
2g.202532663C>TCA64029555BMPR2c.1207C>T (p.Gln403Ter)
c.1138C>T (p.Gln380Ter)
 ClinVar dbSNP COSMIC
2g.202532664A>CCA350341855BMPR2c.1208A>C (p.Gln403Pro)
c.1139A>C (p.Gln380Pro)
2g.202532664A>GCA350341857BMPR2c.1208A>G (p.Gln403Arg)
c.1139A>G (p.Gln380Arg)
2g.202532664A>TCA350341856BMPR2c.1208A>T (p.Gln403Leu)
c.1139A>T (p.Gln380Leu)
2g.202532665A=CA1321545670BMPR2c.1209A= (p.Gln403=)
c.1140A= (p.Gln380=)
2g.202532665A>CCA350341858BMPR2c.1209A>C (p.Gln403His)
c.1140A>C (p.Gln380His)
2g.202532665A>GCA2061317BMPR2c.1209A>G (p.Gln403=)
c.1140A>G (p.Gln380=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202532665A>TCA350341859BMPR2c.1209A>T (p.Gln403His)
c.1140A>T (p.Gln380His)
2g.202532666G>ACA350341860BMPR2c.1210G>A (p.Val404Ile)
c.1141G>A (p.Val381Ile)
2g.202532666G>CCA350341861BMPR2c.1210G>C (p.Val404Leu)
c.1141G>C (p.Val381Leu)
2g.202532666G>TCA350341862BMPR2c.1210G>T (p.Val404Leu)
c.1141G>T (p.Val381Leu)
2g.202532667T>ACA350341863BMPR2c.1211T>A (p.Val404Glu)
c.1142T>A (p.Val381Glu)
2g.202532667T>CCA350341864BMPR2c.1211T>C (p.Val404Ala)
c.1142T>C (p.Val381Ala)
 gnomAD v4
2g.202532667T>GCA350341865BMPR2c.1211T>G (p.Val404Gly)
c.1142T>G (p.Val381Gly)
2g.202532668A>CCA430849695BMPR2c.1212A>C (p.Val404=)
c.1143A>C (p.Val381=)
2g.202532668A>GCA430849700BMPR2c.1212A>G (p.Val404=)
c.1143A>G (p.Val381=)
2g.202532668A>TCA430849697BMPR2c.1212A>T (p.Val404=)
c.1143A>T (p.Val381=)
2g.202532669G>ACA350341866BMPR2c.1213G>A (p.Asp405Asn)
c.1144G>A (p.Asp382Asn)
2g.202532669G>CCA350341867BMPR2c.1213G>C (p.Asp405His)
c.1144G>C (p.Asp382His)
2g.202532669G>TCA350341868BMPR2c.1213G>T (p.Asp405Tyr)
c.1144G>T (p.Asp382Tyr)
2g.202532669_202532670delinsGACA1321545671BMPR2c.1213_1214delinsGA (p.Asp405=)
c.1144_1145delinsGA (p.Asp382=)
2g.202532670delCA645293824BMPR2c.1214del (p.Asp405AlafsTer7)
c.1145del (p.Asp382AlafsTer7)
 ClinVar dbSNP
2g.202532670A>CCA350341869BMPR2c.1214A>C (p.Asp405Ala)
c.1145A>C (p.Asp382Ala)
2g.202532670A>GCA350341871BMPR2c.1214A>G (p.Asp405Gly)
c.1145A>G (p.Asp382Gly)
2g.202532670A>TCA350341870BMPR2c.1214A>T (p.Asp405Val)
c.1145A>T (p.Asp382Val)
2g.202532671C>ACA350341872BMPR2c.1215C>A (p.Asp405Glu)
c.1146C>A (p.Asp382Glu)
2g.202532671C=CA1321545672BMPR2c.1215C= (p.Asp405=)
c.1146C= (p.Asp382=)
2g.202532671C>GCA350341873BMPR2c.1215C>G (p.Asp405Glu)
c.1146C>G (p.Asp382Glu)
2g.202532671C>TCA2061318BMPR2c.1215C>T (p.Asp405=)
c.1146C>T (p.Asp382=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202532672A=CA1321545673BMPR2c.1216A= (p.Met406=)
c.1147A= (p.Met383=)

Number of alleles fetched