Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.6778468A=CA2348112131BMP2c.570A= (p.Arg190=)
c.102A= (p.Arg34=)
20g.6778468A>CCA408258626BMP2c.570A>C (p.Arg190Ser)
c.102A>C (p.Arg34Ser)
20g.6778468A>GCA509817765BMP2c.570A>G (p.Arg190=)
c.102A>G (p.Arg34=)
dbSNP
20g.6778468A>TCA202297BMP2c.570A>T (p.Arg190Ser)
c.102A>T (p.Arg34Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778469C>ACA408258627BMP2c.571C>A (p.Leu191Ile)
c.103C>A (p.Leu35Ile)
20g.6778469C>GCA408258628BMP2c.571C>G (p.Leu191Val)
c.103C>G (p.Leu35Val)
20g.6778469C>TCA408258629BMP2c.571C>T (p.Leu191Phe)
c.103C>T (p.Leu35Phe)
20g.6778470T>ACA408258631BMP2c.572T>A (p.Leu191His)
c.104T>A (p.Leu35His)
20g.6778470T>CCA408258632BMP2c.572T>C (p.Leu191Pro)
c.104T>C (p.Leu35Pro)
20g.6778470T>GCA408258630BMP2c.572T>G (p.Leu191Arg)
c.104T>G (p.Leu35Arg)
20g.6778471T>ACA509817767BMP2c.573T>A (p.Leu191=)
c.105T>A (p.Leu35=)
20g.6778471T>CCA509817769BMP2c.573T>C (p.Leu191=)
c.105T>C (p.Leu35=)
gnomAD v4
20g.6778471T>GCA509817768BMP2c.573T>G (p.Leu191=)
c.105T>G (p.Leu35=)
20g.6778472T>ACA408258633BMP2c.574T>A (p.Leu192Met)
c.106T>A (p.Leu36Met)
20g.6778472T>CCA9758706BMP2c.574T>C (p.Leu192=)
c.106T>C (p.Leu36=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778472T>GCA408258634BMP2c.574T>G (p.Leu192Val)
c.106T>G (p.Leu36Val)
20g.6778472T=CA2348112132BMP2c.574T= (p.Leu192=)
c.106T= (p.Leu36=)
20g.6778473T>ACA408258635BMP2c.575T>A (p.Leu192Ter)
c.107T>A (p.Leu36Ter)
20g.6778473T>CCA408258636BMP2c.575T>C (p.Leu192Ser)
c.107T>C (p.Leu36Ser)
20g.6778473T>GCA408258637BMP2c.575T>G (p.Leu192Trp)
c.107T>G (p.Leu36Trp)
20g.6778474G>ACA509817773BMP2c.576G>A (p.Leu192=)
c.108G>A (p.Leu36=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778474G>CCA408258638BMP2c.576G>C (p.Leu192Phe)
c.108G>C (p.Leu36Phe)
20g.6778474G=CA2348112133BMP2c.576G= (p.Leu192=)
c.108G= (p.Leu36=)
20g.6778474G>TCA408258639BMP2c.576G>T (p.Leu192Phe)
c.108G>T (p.Leu36Phe)
20g.6778475G>ACA408258640BMP2c.577G>A (p.Asp193Asn)
c.109G>A (p.Asp37Asn)
20g.6778475G>CCA408258641BMP2c.577G>C (p.Asp193His)
c.109G>C (p.Asp37His)
20g.6778475G>TCA408258642BMP2c.577G>T (p.Asp193Tyr)
c.109G>T (p.Asp37Tyr)
20g.6778476A>CCA408258643BMP2c.578A>C (p.Asp193Ala)
c.110A>C (p.Asp37Ala)
20g.6778476A>GCA408258644BMP2c.578A>G (p.Asp193Gly)
c.110A>G (p.Asp37Gly)
20g.6778476A>TCA408258645BMP2c.578A>T (p.Asp193Val)
c.110A>T (p.Asp37Val)
20g.6778477C>ACA408258647BMP2c.579C>A (p.Asp193Glu)
c.111C>A (p.Asp37Glu)
20g.6778477C>GCA408258646BMP2c.579C>G (p.Asp193Glu)
c.111C>G (p.Asp37Glu)
20g.6778477C>TCA509817778BMP2c.579C>T (p.Asp193=)
c.111C>T (p.Asp37=)
20g.6778478A>CCA408258648BMP2c.580A>C (p.Thr194Pro)
c.112A>C (p.Thr38Pro)
20g.6778478A>GCA408258649BMP2c.580A>G (p.Thr194Ala)
c.112A>G (p.Thr38Ala)
20g.6778478A>TCA408258650BMP2c.580A>T (p.Thr194Ser)
c.112A>T (p.Thr38Ser)
20g.6778479C>ACA408258651BMP2c.581C>A (p.Thr194Asn)
c.113C>A (p.Thr38Asn)
dbSNP gnomAD v3 gnomAD v4
20g.6778479C=CA2348112134BMP2c.581C= (p.Thr194=)
c.113C= (p.Thr38=)
20g.6778479C>GCA408258652BMP2c.581C>G (p.Thr194Ser)
c.113C>G (p.Thr38Ser)
20g.6778479C>TCA408258653BMP2c.581C>T (p.Thr194Ile)
c.113C>T (p.Thr38Ile)
20g.6778480C>ACA509817780BMP2c.582C>A (p.Thr194=)
c.114C>A (p.Thr38=)
gnomAD v4
20g.6778480C>GCA509817781BMP2c.582C>G (p.Thr194=)
c.114C>G (p.Thr38=)
20g.6778480C>TCA509817782BMP2c.582C>T (p.Thr194=)
c.114C>T (p.Thr38=)
20g.6778481A>CCA509817783BMP2c.583A>C (p.Arg195=)
c.115A>C (p.Arg39=)
gnomAD v4
20g.6778481A>GCA408258654BMP2c.583A>G (p.Arg195Gly)
c.115A>G (p.Arg39Gly)
20g.6778481A>TCA408258655BMP2c.583A>T (p.Arg195Trp)
c.115A>T (p.Arg39Trp)
20g.6778482G>ACA311471921BMP2c.584G>A (p.Arg195Lys)
c.116G>A (p.Arg39Lys)
dbSNP gnomAD v4 COSMIC
20g.6778482G>CCA408258657BMP2c.584G>C (p.Arg195Thr)
c.116G>C (p.Arg39Thr)
gnomAD v4
20g.6778482G=CA2348112135BMP2c.584G= (p.Arg195=)
c.116G= (p.Arg39=)
20g.6778482G>TCA408258656BMP2c.584G>T (p.Arg195Met)
c.116G>T (p.Arg39Met)

Number of alleles fetched