Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202547085_202553904delCA915941655BMPR2c.1413+4638_1586+1016del
c.1344+4638_1517+1016del
ClinVar
2g.202552774G>ACA278089BMPR2c.1472G>A (p.Arg491Gln)
c.1403G>A (p.Arg468Gln)
ClinVar dbSNP gnomAD v4 COSMIC
2g.202552774G>CCA350344576BMPR2c.1472G>C (p.Arg491Pro)
c.1403G>C (p.Arg468Pro)
2g.202552774G=CA1321556571BMPR2c.1472G= (p.Arg491=)
c.1403G= (p.Arg468=)
2g.202552774G>TCA350344573BMPR2c.1472G>T (p.Arg491Leu)
c.1403G>T (p.Arg468Leu)
ClinVar dbSNP
2g.202552775G>ACA430859771BMPR2c.1473G>A (p.Arg491=)
c.1404G>A (p.Arg468=)
2g.202552775G>CCA430859773BMPR2c.1473G>C (p.Arg491=)
c.1404G>C (p.Arg468=)
2g.202552775G>TCA430859774BMPR2c.1473G>T (p.Arg491=)
c.1404G>T (p.Arg468=)
2g.202552776C>ACA350344581BMPR2c.1474C>A (p.Leu492Ile)
c.1405C>A (p.Leu469Ile)
dbSNP
2g.202552776C=CA1321556575BMPR2c.1474C= (p.Leu492=)
c.1405C= (p.Leu469=)
2g.202552776C>GCA350344579BMPR2c.1474C>G (p.Leu492Val)
c.1405C>G (p.Leu469Val)
2g.202552776C>TCA350344583BMPR2c.1474C>T (p.Leu492Phe)
c.1405C>T (p.Leu469Phe)
gnomAD v4
2g.202552777T>ACA350344585BMPR2c.1475T>A (p.Leu492His)
c.1406T>A (p.Leu469His)
2g.202552777T>CCA350344587BMPR2c.1475T>C (p.Leu492Pro)
c.1406T>C (p.Leu469Pro)
2g.202552777T>GCA350344588BMPR2c.1475T>G (p.Leu492Arg)
c.1406T>G (p.Leu469Arg)
2g.202552778T>ACA430859787BMPR2c.1476T>A (p.Leu492=)
c.1407T>A (p.Leu469=)
2g.202552778T>CCA430859788BMPR2c.1476T>C (p.Leu492=)
c.1407T>C (p.Leu469=)
2g.202552778T>GCA430859791BMPR2c.1476T>G (p.Leu492=)
c.1407T>G (p.Leu469=)
2g.202552778T=CA1321556579BMPR2c.1476T= (p.Leu492=)
c.1407T= (p.Leu469=)
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)

Number of alleles fetched