Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202541890_202550241delCA915941652BMPR2c.1277-421_1414-2475del
c.1208-421_1345-2475del
 ClinVar
2g.202542006_202547980delCA915941653BMPR2c.1277-305_1414-4736del
c.1208-305_1345-4736del
 ClinVar
2g.202542022_202547184delCA645293836BMPR2c.1277-289_1413+4737del
c.1208-289_1344+4737del
 ClinVar
2g.202542432G>ACA16610567BMPR2c.1398G>A (p.Trp466Ter)
c.1329G>A (p.Trp443Ter)
 ClinVar dbSNP gnomAD v4
2g.202542432G>CCA350343008BMPR2c.1398G>C (p.Trp466Cys)
c.1329G>C (p.Trp443Cys)
2g.202542432G=CA1321550647BMPR2c.1398G= (p.Trp466=)
c.1329G= (p.Trp443=)
2g.202542432G>TCA350343009BMPR2c.1398G>T (p.Trp466Cys)
c.1329G>T (p.Trp443Cys)
2g.202542432_202542433delinsGACA1321550646BMPR2c.1398_1399delinsGA (p.Trp466=)
c.1329_1330delinsGA (p.Trp443=)
2g.202542433A>CCA350343010BMPR2c.1399A>C (p.Lys467Gln)
c.1330A>C (p.Lys444Gln)
2g.202542433A>GCA350343011BMPR2c.1399A>G (p.Lys467Glu)
c.1330A>G (p.Lys444Glu)
2g.202542433A>TCA350343012BMPR2c.1399A>T (p.Lys467Ter)
c.1330A>T (p.Lys444Ter)
2g.202542435delCA645293851BMPR2c.1401del (p.Glu468LysfsTer6)
c.1332del (p.Glu445LysfsTer6)
 ClinVar dbSNP
2g.202542434A>CCA350343015BMPR2c.1400A>C (p.Lys467Thr)
c.1331A>C (p.Lys444Thr)
2g.202542434A>GCA350343014BMPR2c.1400A>G (p.Lys467Arg)
c.1331A>G (p.Lys444Arg)
2g.202542434A>TCA350343013BMPR2c.1400A>T (p.Lys467Ile)
c.1331A>T (p.Lys444Ile)
2g.202542435A>CCA350343016BMPR2c.1401A>C (p.Lys467Asn)
c.1332A>C (p.Lys444Asn)
2g.202542435A>GCA430854838BMPR2c.1401A>G (p.Lys467=)
c.1332A>G (p.Lys444=)
 dbSNP gnomAD v4
2g.202542435A>TCA350343017BMPR2c.1401A>T (p.Lys467Asn)
c.1332A>T (p.Lys444Asn)
2g.202542436G>ACA350343018BMPR2c.1402G>A (p.Glu468Lys)
c.1333G>A (p.Glu445Lys)
 COSMIC
2g.202542436G>CCA350343019BMPR2c.1402G>C (p.Glu468Gln)
c.1333G>C (p.Glu445Gln)
2g.202542436G=CA1321550648BMPR2c.1402G= (p.Glu468=)
c.1333G= (p.Glu445=)
2g.202542436G>TCA350343020BMPR2c.1402G>T (p.Glu468Ter)
c.1333G>T (p.Glu445Ter)
 ClinVar dbSNP
2g.202542437A>CCA350343021BMPR2c.1403A>C (p.Glu468Ala)
c.1334A>C (p.Glu445Ala)
2g.202542437A>GCA350343022BMPR2c.1403A>G (p.Glu468Gly)
c.1334A>G (p.Glu445Gly)
2g.202542437A>TCA350343023BMPR2c.1403A>T (p.Glu468Val)
c.1334A>T (p.Glu445Val)
2g.202542440delCA2662706455BMPR2c.1406del (p.Asn469IlefsTer5)
c.1337del (p.Asn446IlefsTer5)
 gnomAD v4
2g.202542438A>CCA350343024BMPR2c.1404A>C (p.Glu468Asp)
c.1335A>C (p.Glu445Asp)
2g.202542438A>GCA430854865BMPR2c.1404A>G (p.Glu468=)
c.1335A>G (p.Glu445=)
2g.202542438A>TCA350343025BMPR2c.1404A>T (p.Glu468Asp)
c.1335A>T (p.Glu445Asp)
2g.202542439A>CCA350343026BMPR2c.1405A>C (p.Asn469His)
c.1336A>C (p.Asn446His)
2g.202542439A>GCA350343027BMPR2c.1405A>G (p.Asn469Asp)
c.1336A>G (p.Asn446Asp)
2g.202542439A>TCA350343028BMPR2c.1405A>T (p.Asn469Tyr)
c.1336A>T (p.Asn446Tyr)
2g.202542440A>CCA350343031BMPR2c.1406A>C (p.Asn469Thr)
c.1337A>C (p.Asn446Thr)
2g.202542440A>GCA350343029BMPR2c.1406A>G (p.Asn469Ser)
c.1337A>G (p.Asn446Ser)
2g.202542440A>TCA350343030BMPR2c.1406A>T (p.Asn469Ile)
c.1337A>T (p.Asn446Ile)
2g.202542441T>ACA350343032BMPR2c.1407T>A (p.Asn469Lys)
c.1338T>A (p.Asn446Lys)
2g.202542441T>CCA430854892BMPR2c.1407T>C (p.Asn469=)
c.1338T>C (p.Asn446=)
2g.202542441T>GCA350343033BMPR2c.1407T>G (p.Asn469Lys)
c.1338T>G (p.Asn446Lys)
2g.202542442A>CCA350343034BMPR2c.1408A>C (p.Ser470Arg)
c.1339A>C (p.Ser447Arg)
2g.202542442A>GCA350343035BMPR2c.1408A>G (p.Ser470Gly)
c.1339A>G (p.Ser447Gly)
2g.202542442A>TCA350343036BMPR2c.1408A>T (p.Ser470Cys)
c.1339A>T (p.Ser447Cys)
2g.202542443G>ACA350343037BMPR2c.1409G>A (p.Ser470Asn)
c.1340G>A (p.Ser447Asn)
 gnomAD v4
2g.202542443G>CCA350343038BMPR2c.1409G>C (p.Ser470Thr)
c.1340G>C (p.Ser447Thr)
2g.202542443G>TCA350343039BMPR2c.1409G>T (p.Ser470Ile)
c.1340G>T (p.Ser447Ile)
2g.202542444C>ACA350343040BMPR2c.1410C>A (p.Ser470Arg)
c.1341C>A (p.Ser447Arg)
2g.202542444C=CA1321550649BMPR2c.1410C= (p.Ser470=)
c.1341C= (p.Ser447=)
2g.202542444C>GCA350343041BMPR2c.1410C>G (p.Ser470Arg)
c.1341C>G (p.Ser447Arg)
2g.202542444C>TCA430854919BMPR2c.1410C>T (p.Ser470=)
c.1341C>T (p.Ser447=)
 dbSNP gnomAD v3 gnomAD v4
2g.202542445C>ACA350343042BMPR2c.1411C>A (p.Leu471Met)
c.1342C>A (p.Leu448Met)
2g.202542445C>GCA350343043BMPR2c.1411C>G (p.Leu471Val)
c.1342C>G (p.Leu448Val)

Number of alleles fetched