Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202552679dupCA2061365BMPR2c.1414-37dup (p.=)
dbSNP ExAC gnomAD COSMIC
2g.202552678_202552679dupCA538979840BMPR2c.1414-38_1414-37dup (p.=)
gnomAD
2g.202552679delCA2061364BMPR2c.1414-37del (p.=)
dbSNP ExAC gnomAD COSMIC
2g.202552678_202552679delCA2061366BMPR2c.1414-38_1414-37del (p.=)
dbSNP ExAC gnomAD
2g.202552677_202552679delCA538979837BMPR2c.1414-39_1414-37del (p.=)
gnomAD
2g.202552679T>ACA2061367BMPR2c.1414-37T>A (p.=)
dbSNP ExAC gnomAD
2g.202552680A>TCA2061368BMPR2c.1414-36A>T (p.=)
dbSNP ExAC gnomAD COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.202552681A>GCA430858851BMPR2c.1414-35A>G (p.=)
2g.202552682A>GCA763450494BMPR2c.1414-34A>G (p.=)
2g.202552685C>TCA538979847BMPR2c.1414-31C>T (p.=)
gnomAD
2g.202552686A>CCA2061369BMPR2c.1414-30A>C (p.=)
dbSNP ExAC gnomAD
2g.202552688A>GCA2061370BMPR2c.1414-28A>G (p.=)
dbSNP ExAC gnomAD
2g.202552691G>ACA64041000BMPR2c.1414-25G>A (p.=)
dbSNP
2g.202552695G>ACA2061371BMPR2c.1414-21G>A (p.=)
dbSNP ExAC gnomAD
2g.202552700G>CCA763450507BMPR2c.1414-16G>C (p.=)
2g.202552702A>GCA2061372BMPR2c.1414-14A>G (p.=)
dbSNP ExAC gnomAD
2g.202552706T>CCA2061373BMPR2c.1414-10T>C (p.=)
dbSNP ExAC gnomAD
2g.202552707G>ACA2061374BMPR2c.1414-9G>A (p.=)
dbSNP ExAC gnomAD
2g.202552713C>TCA2061375BMPR2c.1414-3C>T (p.=)
ClinVar dbSNP ExAC gnomAD
2g.202552714A>CCA350344397BMPR2c.1414-2A>C (p.=)
2g.202552714A>GCA350344398BMPR2c.1414-2A>G (p.=)
2g.202552714A>TCA350344399BMPR2c.1414-2A>T (p.=)
ClinVar
2g.202552715G>ACA350344400BMPR2c.1414-1G>A (p.=)
2g.202552715G>CCA350344402BMPR2c.1414-1G>C (p.=)
2g.202552715G>TCA350344401BMPR2c.1414-1G>T (p.=)
2g.202552716G>ACA2061376BMPR2c.1414G>A (p.Ala472Thr)
dbSNP ExAC gnomAD
2g.202552716G>CCA350344403BMPR2c.1414G>C (p.Ala472Pro)
2g.202552716G>TCA350344404BMPR2c.1414G>T (p.Ala472Ser)
2g.202552717C>ACA350344405BMPR2c.1415C>A (p.Ala472Glu)
2g.202552717C>GCA350344406BMPR2c.1415C>G (p.Ala472Gly)
2g.202552717C>TCA350344407BMPR2c.1415C>T (p.Ala472Val)
2g.202552718A>CCA430859503BMPR2c.1416A>C (p.Ala472=)
2g.202552718A>GCA430859504BMPR2c.1416A>G (p.Ala472=)
2g.202552718A>TCA430859508BMPR2c.1416A>T (p.Ala472=)
2g.202552719G>ACA350344408BMPR2c.1417G>A (p.Val473Met)
2g.202552719G>CCA350344409BMPR2c.1417G>C (p.Val473Leu)
2g.202552719G>TCA350344410BMPR2c.1417G>T (p.Val473Leu)
2g.202552720T>ACA350344411BMPR2c.1418T>A (p.Val473Glu)
2g.202552720T>CCA350344412BMPR2c.1418T>C (p.Val473Ala)
2g.202552720T>GCA350344413BMPR2c.1418T>G (p.Val473Gly)
2g.202552721G>ACA430859516BMPR2c.1419G>A (p.Val473=)
2g.202552721G>CCA430859518BMPR2c.1419G>C (p.Val473=)
2g.202552721G>TCA430859522BMPR2c.1419G>T (p.Val473=)
2g.202552722A>CCA430859525BMPR2c.1420A>C (p.Arg474=)
2g.202552722A>GCA350344415BMPR2c.1420A>G (p.Arg474Gly)
2g.202552722A>TCA350344414BMPR2c.1420A>T (p.Arg474Trp)
2g.202552723G>ACA350344416BMPR2c.1421G>A (p.Arg474Lys)
2g.202552723G>CCA350344418BMPR2c.1421G>C (p.Arg474Thr)
2g.202552723G>TCA350344417BMPR2c.1421G>T (p.Arg474Met)
2g.202552724G>ACA430859537BMPR2c.1422G>A (p.Arg474=)
COSMIC

Number of alleles fetched