Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
2g.202532672A>CCA350341874BMPR2c.1216A>C (p.Met406Leu)
c.1147A>C (p.Met383Leu)
2g.202532672A>GCA350341875BMPR2c.1216A>G (p.Met406Val)
c.1147A>G (p.Met383Val)
 dbSNP
2g.202532672A>TCA350341876BMPR2c.1216A>T (p.Met406Leu)
c.1147A>T (p.Met383Leu)
2g.202532673T>ACA350341877BMPR2c.1217T>A (p.Met406Lys)
c.1148T>A (p.Met383Lys)
 gnomAD v4
2g.202532673T>CCA350341878BMPR2c.1217T>C (p.Met406Thr)
c.1148T>C (p.Met383Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.202532673T>GCA350341879BMPR2c.1217T>G (p.Met406Arg)
c.1148T>G (p.Met383Arg)
 ClinVar dbSNP
2g.202532673T=CA1321545674BMPR2c.1217T= (p.Met406=)
c.1148T= (p.Met383=)
2g.202532674G>ACA350341882BMPR2c.1218G>A (p.Met406Ile)
c.1149G>A (p.Met383Ile)
 gnomAD v4
2g.202532674G>CCA350341881BMPR2c.1218G>C (p.Met406Ile)
c.1149G>C (p.Met383Ile)
 dbSNP
2g.202532674G=CA1321545675BMPR2c.1218G= (p.Met406=)
c.1149G= (p.Met383=)
2g.202532674G>TCA350341880BMPR2c.1218G>T (p.Met406Ile)
c.1149G>T (p.Met383Ile)
2g.202532675T>ACA350341883BMPR2c.1219T>A (p.Tyr407Asn)
c.1150T>A (p.Tyr384Asn)
2g.202532675T>CCA350341884BMPR2c.1219T>C (p.Tyr407His)
c.1150T>C (p.Tyr384His)
 gnomAD v4
2g.202532675T>GCA350341885BMPR2c.1219T>G (p.Tyr407Asp)
c.1150T>G (p.Tyr384Asp)
2g.202532676A=CA1321545676BMPR2c.1220A= (p.Tyr407=)
c.1151A= (p.Tyr384=)
2g.202532676A>CCA350341886BMPR2c.1220A>C (p.Tyr407Ser)
c.1151A>C (p.Tyr384Ser)
 ClinVar dbSNP
2g.202532676A>GCA350341887BMPR2c.1220A>G (p.Tyr407Cys)
c.1151A>G (p.Tyr384Cys)
 ClinVar
2g.202532676A>TCA350341888BMPR2c.1220A>T (p.Tyr407Phe)
c.1151A>T (p.Tyr384Phe)
2g.202532677T>ACA350341889BMPR2c.1221T>A (p.Tyr407Ter)
c.1152T>A (p.Tyr384Ter)
2g.202532677T>CCA430849745BMPR2c.1221T>C (p.Tyr407=)
c.1152T>C (p.Tyr384=)
2g.202532677T>GCA350341890BMPR2c.1221T>G (p.Tyr407Ter)
c.1152T>G (p.Tyr384Ter)
 ClinVar dbSNP
2g.202532677T=CA1321545677BMPR2c.1221T= (p.Tyr407=)
c.1152T= (p.Tyr384=)
2g.202532678G>ACA350341891BMPR2c.1222G>A (p.Ala408Thr)
c.1153G>A (p.Ala385Thr)
2g.202532678G>CCA350341892BMPR2c.1222G>C (p.Ala408Pro)
c.1153G>C (p.Ala385Pro)
2g.202532678G>TCA350341893BMPR2c.1222G>T (p.Ala408Ser)
c.1153G>T (p.Ala385Ser)
2g.202532679C>ACA350341896BMPR2c.1223C>A (p.Ala408Asp)
c.1154C>A (p.Ala385Asp)
2g.202532679C>GCA350341895BMPR2c.1223C>G (p.Ala408Gly)
c.1154C>G (p.Ala385Gly)
2g.202532679C>TCA350341894BMPR2c.1223C>T (p.Ala408Val)
c.1154C>T (p.Ala385Val)
2g.202532680T>ACA430849763BMPR2c.1224T>A (p.Ala408=)
c.1155T>A (p.Ala385=)
2g.202532680T>CCA2061319BMPR2c.1224T>C (p.Ala408=)
c.1155T>C (p.Ala385=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202532680T>GCA430849768BMPR2c.1224T>G (p.Ala408=)
c.1155T>G (p.Ala385=)
2g.202532680T=CA1321545678BMPR2c.1224T= (p.Ala408=)
c.1155T= (p.Ala385=)
2g.202532681C>ACA350341897BMPR2c.1225C>A (p.Leu409Ile)
c.1156C>A (p.Leu386Ile)
2g.202532681C>GCA350341898BMPR2c.1225C>G (p.Leu409Val)
c.1156C>G (p.Leu386Val)
2g.202532681C>TCA350341899BMPR2c.1225C>T (p.Leu409Phe)
c.1156C>T (p.Leu386Phe)
 COSMIC
2g.202532682T>ACA350341900BMPR2c.1226T>A (p.Leu409His)
c.1157T>A (p.Leu386His)
2g.202532682T>CCA350341901BMPR2c.1226T>C (p.Leu409Pro)
c.1157T>C (p.Leu386Pro)

Number of alleles fetched