Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47351295T>ACA380341657MYBPC3c.236A>T (p.Tyr79Phe)
11g.47351295T>CCA380341658MYBPC3c.236A>G (p.Tyr79Cys)
ClinVar dbSNP
11g.47351295T>GCA380341659MYBPC3c.236A>C (p.Tyr79Ser)
11g.47351295T=CA1969342633MYBPC3c.236A= (p.Tyr79=)
11g.47351295dupCA16042816MYBPC3c.236dup (p.Tyr79Ter)
ClinVar dbSNP gnomAD v4
11g.47351296A=CA1969342634MYBPC3c.235T= (p.Tyr79=)
11g.47351296A>CCA380341660MYBPC3c.235T>G (p.Tyr79Asp)
11g.47351296A>GCA380341661MYBPC3c.235T>C (p.Tyr79His)
gnomAD v4
11g.47351296A>TCA012128MYBPC3c.235T>A (p.Tyr79Asn)
ClinVar dbSNP
11g.47351297A>CCA474429619MYBPC3c.234T>G (p.Ser78=)
11g.47351297A>GCA474429620MYBPC3c.234T>C (p.Ser78=)
dbSNP
11g.47351297A>TCA474429622MYBPC3c.234T>A (p.Ser78=)
11g.47351298G>ACA380341663MYBPC3c.233C>T (p.Ser78Phe)
11g.47351298G>CCA380341664MYBPC3c.233C>G (p.Ser78Cys)
11g.47351298G>TCA380341662MYBPC3c.233C>A (p.Ser78Tyr)
11g.47351299A>CCA380341667MYBPC3c.232T>G (p.Ser78Ala)
11g.47351299A>GCA380341665MYBPC3c.232T>C (p.Ser78Pro)
11g.47351299A>TCA380341666MYBPC3c.232T>A (p.Ser78Thr)
11g.47351299_47351306delinsATCCCTGGCA1969342635MYBPC3c.225_232delinsCCAGGGAT (p.Asp75=)
11g.47351300T>ACA474429624MYBPC3c.231A>T (p.Gly77=)
gnomAD v4
11g.47351300T>CCA474429625MYBPC3c.231A>G (p.Gly77=)
ClinVar dbSNP gnomAD v4
11g.47351300T>GCA474429623MYBPC3c.231A>C (p.Gly77=)
11g.47351300T=CA1969342636MYBPC3c.231A= (p.Gly77=)
11g.47351302_47351308delCA676993760MYBPC3c.225_231del (p.Gln76LeufsTer18)
dbSNP
11g.47351301C>ACA380341668MYBPC3c.230G>T (p.Gly77Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47351301C=CA1969342637MYBPC3c.230G= (p.Gly77=)
11g.47351301C>GCA380341669MYBPC3c.230G>C (p.Gly77Ala)
11g.47351301C>TCA012059MYBPC3c.230G>A (p.Gly77Glu)
ClinVar dbSNP
11g.47351303delCA2580084274MYBPC3c.230del (p.Gly77AspfsTer19)
ClinVar
11g.47351302C>ACA351921MYBPC3c.229G>T (p.Gly77Ter)
ClinVar dbSNP gnomAD v4
11g.47351302C=CA1969342638MYBPC3c.229G= (p.Gly77=)
11g.47351302C>GCA380341670MYBPC3c.229G>C (p.Gly77Arg)
11g.47351302C>TCA380341671MYBPC3c.229G>A (p.Gly77Arg)
11g.47351303C>ACA380341672MYBPC3c.228G>T (p.Gln76His)
gnomAD v4
11g.47351303C=CA1969342639MYBPC3c.228G= (p.Gln76=)
11g.47351303C>GCA380341673MYBPC3c.228G>C (p.Gln76His)
11g.47351303C>TCA049031MYBPC3c.228G>A (p.Gln76=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47351304_47351308dupCA2695214004MYBPC3c.224_228dup (p.Gly77ThrfsTer21)
11g.47351309_47351310insCAGATCTGGTCGCA2613402097MYBPC3c.228_229insATCTGCGACCAG (p.Gln76_Gly77insIleCysAspGln)
gnomAD v4
11g.47351304T>ACA380341676MYBPC3c.227A>T (p.Gln76Leu)
11g.47351304T>CCA380341674MYBPC3c.227A>G (p.Gln76Arg)
ClinVar gnomAD v4
11g.47351304T>GCA380341675MYBPC3c.227A>C (p.Gln76Pro)
11g.47351304dupCA279311MYBPC3c.227dup (p.Ser78IlefsTer?)
ClinVar dbSNP
11g.47351305G>ACA380341677MYBPC3c.226C>T (p.Gln76Ter)
ClinVar dbSNP
11g.47351305G>CCA380341678MYBPC3c.226C>G (p.Gln76Glu)
11g.47351305G=CA1969342640MYBPC3c.226C= (p.Gln76=)
11g.47351305G>TCA380341679MYBPC3c.226C>A (p.Gln76Lys)
11g.47351306G>ACA474429630MYBPC3c.225C>T (p.Asp75=)
gnomAD v4
11g.47351306G>CCA380341680MYBPC3c.225C>G (p.Asp75Glu)
ClinVar dbSNP
11g.47351306G=CA1969342641MYBPC3c.225C= (p.Asp75=)

Number of alleles fetched