Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202547085_202553904delCA915941655BMPR2c.1413+4638_1586+1016del
c.1344+4638_1517+1016del
 ClinVar
2g.202552779A>CCA350344591BMPR2c.1477A>C (p.Thr493Pro)
c.1408A>C (p.Thr470Pro)
2g.202552779A>GCA350344592BMPR2c.1477A>G (p.Thr493Ala)
c.1408A>G (p.Thr470Ala)
2g.202552779A>TCA350344594BMPR2c.1477A>T (p.Thr493Ser)
c.1408A>T (p.Thr470Ser)
2g.202552779dupCA645293982BMPR2c.1477dup (p.Thr493AsnfsTer6)
c.1408dup (p.Thr470AsnfsTer6)
 ClinVar dbSNP
2g.202552780C>ACA350344597BMPR2c.1478C>A (p.Thr493Asn)
c.1409C>A (p.Thr470Asn)
2g.202552780C=CA1321556586BMPR2c.1478C= (p.Thr493=)
c.1409C= (p.Thr470=)
2g.202552780C>GCA350344598BMPR2c.1478C>G (p.Thr493Ser)
c.1409C>G (p.Thr470Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.202552780C>TCA350344599BMPR2c.1478C>T (p.Thr493Ile)
c.1409C>T (p.Thr470Ile)
2g.202552781T>ACA430859802BMPR2c.1479T>A (p.Thr493=)
c.1410T>A (p.Thr470=)
2g.202552781T>CCA430859805BMPR2c.1479T>C (p.Thr493=)
c.1410T>C (p.Thr470=)
2g.202552781T>GCA430859807BMPR2c.1479T>G (p.Thr493=)
c.1410T>G (p.Thr470=)
2g.202552782G>ACA350344602BMPR2c.1480G>A (p.Ala494Thr)
c.1411G>A (p.Ala471Thr)
2g.202552782G>CCA350344604BMPR2c.1480G>C (p.Ala494Pro)
c.1411G>C (p.Ala471Pro)
2g.202552782G>TCA350344605BMPR2c.1480G>T (p.Ala494Ser)
c.1411G>T (p.Ala471Ser)
2g.202552783C>ACA350344610BMPR2c.1481C>A (p.Ala494Glu)
c.1412C>A (p.Ala471Glu)
2g.202552783C=CA1321556589BMPR2c.1481C= (p.Ala494=)
c.1412C= (p.Ala471=)
2g.202552783C>GCA350344607BMPR2c.1481C>G (p.Ala494Gly)
c.1412C>G (p.Ala471Gly)
2g.202552783C>TCA2061380BMPR2c.1481C>T (p.Ala494Val)
c.1412C>T (p.Ala471Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202552784A>CCA430859818BMPR2c.1482A>C (p.Ala494=)
c.1413A>C (p.Ala471=)
2g.202552784A>GCA430859820BMPR2c.1482A>G (p.Ala494=)
c.1413A>G (p.Ala471=)
 gnomAD v4
2g.202552784A>TCA430859822BMPR2c.1482A>T (p.Ala494=)
c.1413A>T (p.Ala471=)
2g.202552785C>ACA350344611BMPR2c.1483C>A (p.Gln495Lys)
c.1414C>A (p.Gln472Lys)
2g.202552785C=CA1321556592BMPR2c.1483C= (p.Gln495=)
c.1414C= (p.Gln472=)
2g.202552785C>GCA350344613BMPR2c.1483C>G (p.Gln495Glu)
c.1414C>G (p.Gln472Glu)
2g.202552785C>TCA350344615BMPR2c.1483C>T (p.Gln495Ter)
c.1414C>T (p.Gln472Ter)
 ClinVar dbSNP
2g.202552786A=CA1321556598BMPR2c.1484A= (p.Gln495=)
c.1415A= (p.Gln472=)
2g.202552786A>CCA350344617BMPR2c.1484A>C (p.Gln495Pro)
c.1415A>C (p.Gln472Pro)
2g.202552786A>GCA350344619BMPR2c.1484A>G (p.Gln495Arg)
c.1415A>G (p.Gln472Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.202552786A>TCA350344621BMPR2c.1484A>T (p.Gln495Leu)
c.1415A>T (p.Gln472Leu)
2g.202552787G>ACA430859832BMPR2c.1485G>A (p.Gln495=)
c.1416G>A (p.Gln472=)
 gnomAD v4
2g.202552787G>CCA350344622BMPR2c.1485G>C (p.Gln495His)
c.1416G>C (p.Gln472His)
2g.202552787G>TCA350344624BMPR2c.1485G>T (p.Gln495His)
c.1416G>T (p.Gln472His)
2g.202552788T>ACA350344626BMPR2c.1486T>A (p.Cys496Ser)
c.1417T>A (p.Cys473Ser)
2g.202552788T>CCA350344628BMPR2c.1486T>C (p.Cys496Arg)
c.1417T>C (p.Cys473Arg)
 ClinVar dbSNP
2g.202552788T>GCA350344629BMPR2c.1486T>G (p.Cys496Gly)
c.1417T>G (p.Cys473Gly)
2g.202552788T=CA1321556601BMPR2c.1486T= (p.Cys496=)
c.1417T= (p.Cys473=)
2g.202552789G>ACA350344634BMPR2c.1487G>A (p.Cys496Tyr)
c.1418G>A (p.Cys473Tyr)
 ClinVar dbSNP
2g.202552789G>CCA350344635BMPR2c.1487G>C (p.Cys496Ser)
c.1418G>C (p.Cys473Ser)
2g.202552789G=CA1321556604BMPR2c.1487G= (p.Cys496=)
c.1418G= (p.Cys473=)
2g.202552789G>TCA350344632BMPR2c.1487G>T (p.Cys496Phe)
c.1418G>T (p.Cys473Phe)
2g.202552789_202552807delinsGTGCTGAGGAAAGGATGGCCA1321556605BMPR2c.1487_1505delinsGTGCTGAGGAAAGGATGGC (p.Cys496=)
c.1418_1436delinsGTGCTGAGGAAAGGATGGC (p.Cys473=)
2g.202552790T>ACA350344637BMPR2c.1488T>A (p.Cys496Ter)
c.1419T>A (p.Cys473Ter)
2g.202552790T>CCA430859844BMPR2c.1488T>C (p.Cys496=)
c.1419T>C (p.Cys473=)
2g.202552790T>GCA350344638BMPR2c.1488T>G (p.Cys496Trp)
c.1419T>G (p.Cys473Trp)
 ClinVar dbSNP
2g.202552792_202552809delCA915941656BMPR2c.1490_1507del (p.Ala497_Ala502del)
c.1421_1438del (p.Ala474_Ala479del)
 ClinVar dbSNP
2g.202552791G>ACA350344640BMPR2c.1489G>A (p.Ala497Thr)
c.1420G>A (p.Ala474Thr)
2g.202552791G>CCA350344642BMPR2c.1489G>C (p.Ala497Pro)
c.1420G>C (p.Ala474Pro)
2g.202552791G>TCA350344643BMPR2c.1489G>T (p.Ala497Ser)
c.1420G>T (p.Ala474Ser)
2g.202552792C>ACA350344646BMPR2c.1490C>A (p.Ala497Asp)
c.1421C>A (p.Ala474Asp)

Number of alleles fetched