Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47330388_47335387delCA2740090117
11g.47332259_47335041delCA2580084187MYBPC3c.2905+1_3628-1del
c.2887+1_3610-1del
c.2824+1_3547-1del
ClinVar
11g.47332549_47332603delCA2580084192MYBPC3c.3593_3627+20del
c.3575_3609+20del
c.3512_3546+20del
ClinVar
11g.47332575_47332576delCA2695213904MYBPC3c.3617_3618del (p.Gly1206GlufsTer?)
c.3599_3600del (p.Gly1200GlufsTer?)
c.3536_3537del (p.Gly1179GlufsTer?)
11g.47332575_47332576delinsACCA1969334059MYBPC3c.3617_3618delinsGT (p.Gly1206=)
c.3599_3600delinsGT (p.Gly1200=)
c.3536_3537delinsGT (p.Gly1179=)
11g.47332576C>ACA054375MYBPC3c.3617G>T (p.Gly1206Val)
c.3599G>T (p.Gly1200Val)
c.3536G>T (p.Gly1179Val)
ClinVar dbSNP
11g.47332576C=CA1969334064MYBPC3c.3617G= (p.Gly1206=)
c.3599G= (p.Gly1200=)
c.3536G= (p.Gly1179=)
11g.47332576C>GCA380312229MYBPC3c.3617G>C (p.Gly1206Ala)
c.3599G>C (p.Gly1200Ala)
c.3536G>C (p.Gly1179Ala)
11g.47332576C>TCA16042795MYBPC3c.3617G>A (p.Gly1206Asp)
c.3599G>A (p.Gly1200Asp)
c.3536G>A (p.Gly1179Asp)
ClinVar dbSNP gnomAD v4
11g.47332576_47332577delinsTTCA2580084194MYBPC3c.3616_3617delinsAA (p.Gly1206Asn)
c.3598_3599delinsAA (p.Gly1200Asn)
c.3535_3536delinsAA (p.Gly1179Asn)
ClinVar
11g.47332579delCA16613343MYBPC3c.3617del (p.Gly1206ValfsTer?)
c.3599del (p.Gly1200ValfsTer?)
c.3536del (p.Gly1179ValfsTer?)
ClinVar dbSNP
11g.47332577C>ACA380312232MYBPC3c.3616G>T (p.Gly1206Cys)
c.3598G>T (p.Gly1200Cys)
c.3535G>T (p.Gly1179Cys)
11g.47332577C>GCA380312235MYBPC3c.3616G>C (p.Gly1206Arg)
c.3598G>C (p.Gly1200Arg)
c.3535G>C (p.Gly1179Arg)
11g.47332577C>TCA380312237MYBPC3c.3616G>A (p.Gly1206Ser)
c.3598G>A (p.Gly1200Ser)
c.3535G>A (p.Gly1179Ser)
11g.47332578C>ACA474428895MYBPC3c.3615G>T (p.Arg1205=)
c.3597G>T (p.Arg1199=)
c.3534G>T (p.Arg1178=)
dbSNP
11g.47332578C=CA1969334069MYBPC3c.3615G= (p.Arg1205=)
c.3597G= (p.Arg1199=)
c.3534G= (p.Arg1178=)
11g.47332578C>GCA474428896MYBPC3c.3615G>C (p.Arg1205=)
c.3597G>C (p.Arg1199=)
c.3534G>C (p.Arg1178=)
ClinVar dbSNP gnomAD v4
11g.47332578C>TCA079448MYBPC3c.3615G>A (p.Arg1205=)
c.3597G>A (p.Arg1199=)
c.3534G>A (p.Arg1178=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332579C>ACA380312245MYBPC3c.3614G>T (p.Arg1205Leu)
c.3596G>T (p.Arg1199Leu)
c.3533G>T (p.Arg1178Leu)
11g.47332579C=CA1969334075MYBPC3c.3614G= (p.Arg1205=)
c.3596G= (p.Arg1199=)
c.3533G= (p.Arg1178=)
11g.47332579C>GCA380312247MYBPC3c.3614G>C (p.Arg1205Pro)
c.3596G>C (p.Arg1199Pro)
c.3533G>C (p.Arg1178Pro)
ClinVar dbSNP
11g.47332579C>TCA014478MYBPC3c.3614G>A (p.Arg1205Gln)
c.3596G>A (p.Arg1199Gln)
c.3533G>A (p.Arg1178Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332580G>ACA014469MYBPC3c.3613C>T (p.Arg1205Trp)
c.3595C>T (p.Arg1199Trp)
c.3532C>T (p.Arg1178Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332580G>CCA054456MYBPC3c.3613C>G (p.Arg1205Gly)
c.3595C>G (p.Arg1199Gly)
c.3532C>G (p.Arg1178Gly)
11g.47332580G=CA1969334088MYBPC3c.3613C= (p.Arg1205=)
c.3595C= (p.Arg1199=)
c.3532C= (p.Arg1178=)
11g.47332580G>TCA474428897MYBPC3c.3613C>A (p.Arg1205=)
c.3595C>A (p.Arg1199=)
c.3532C>A (p.Arg1178=)
gnomAD v4
11g.47332581G>ACA474428898MYBPC3c.3612C>T (p.Val1204=)
c.3594C>T (p.Val1198=)
c.3531C>T (p.Val1177=)
11g.47332581G>CCA474428899MYBPC3c.3612C>G (p.Val1204=)
c.3594C>G (p.Val1198=)
c.3531C>G (p.Val1177=)
11g.47332581G>TCA474428900MYBPC3c.3612C>A (p.Val1204=)
c.3594C>A (p.Val1198=)
c.3531C>A (p.Val1177=)
gnomAD v4
11g.47332582A=CA1969334096MYBPC3c.3611T= (p.Val1204=)
c.3593T= (p.Val1198=)
c.3530T= (p.Val1177=)
11g.47332582A>CCA380312258MYBPC3c.3611T>G (p.Val1204Gly)
c.3593T>G (p.Val1198Gly)
c.3530T>G (p.Val1177Gly)
11g.47332582A>GCA014459MYBPC3c.3611T>C (p.Val1204Ala)
c.3593T>C (p.Val1198Ala)
c.3530T>C (p.Val1177Ala)
ClinVar dbSNP
11g.47332582A>TCA380312264MYBPC3c.3611T>A (p.Val1204Asp)
c.3593T>A (p.Val1198Asp)
c.3530T>A (p.Val1177Asp)
11g.47332588_47332592dupCA2580615677MYBPC3c.3607_3611dup (p.Arg1205LeufsTer?)
c.3589_3593dup (p.Arg1199LeufsTer?)
c.3526_3530dup (p.Arg1178LeufsTer?)
11g.47332583C>ACA380312268MYBPC3c.3610G>T (p.Val1204Phe)
c.3592G>T (p.Val1198Phe)
c.3529G>T (p.Val1177Phe)
11g.47332583C=CA1969334108MYBPC3c.3610G= (p.Val1204=)
c.3592G= (p.Val1198=)
c.3529G= (p.Val1177=)
11g.47332583C>GCA380312274MYBPC3c.3610G>C (p.Val1204Leu)
c.3592G>C (p.Val1198Leu)
c.3529G>C (p.Val1177Leu)
11g.47332583C>TCA380312272MYBPC3c.3610G>A (p.Val1204Ile)
c.3592G>A (p.Val1198Ile)
c.3529G>A (p.Val1177Ile)
dbSNP
11g.47332583_47332593delinsCAGCACAGCAGCA1969334106MYBPC3c.3600_3610delinsCTGCTGTGCTG (p.Leu1200=)
c.3582_3592delinsCTGCTGTGCTG (p.Leu1194=)
c.3519_3529delinsCTGCTGTGCTG (p.Leu1173=)
11g.47332584A>CCA474428903MYBPC3c.3609T>G (p.Ala1203=)
c.3591T>G (p.Ala1197=)
c.3528T>G (p.Ala1176=)
11g.47332584A>GCA474428904MYBPC3c.3609T>C (p.Ala1203=)
c.3591T>C (p.Ala1197=)
c.3528T>C (p.Ala1176=)
11g.47332584A>TCA474428902MYBPC3c.3609T>A (p.Ala1203=)
c.3591T>A (p.Ala1197=)
c.3528T>A (p.Ala1176=)
11g.47332588_47332597dupCA2580084197MYBPC3c.3600_3609dup (p.Val1204LeufsTer7)
c.3582_3591dup (p.Val1198LeufsTer7)
c.3519_3528dup (p.Val1177LeufsTer7)
ClinVar
11g.47332588_47332597delCA014440MYBPC3c.3600_3609del (p.Cys1201SerfsTer?)
c.3582_3591del (p.Cys1195SerfsTer?)
c.3519_3528del (p.Cys1174SerfsTer?)
ClinVar dbSNP
11g.47332585G>ACA380312282MYBPC3c.3608C>T (p.Ala1203Val)
c.3590C>T (p.Ala1197Val)
c.3527C>T (p.Ala1176Val)
dbSNP gnomAD v2 gnomAD v4
11g.47332585G>CCA380312285MYBPC3c.3608C>G (p.Ala1203Gly)
c.3590C>G (p.Ala1197Gly)
c.3527C>G (p.Ala1176Gly)
11g.47332585G=CA1969334125MYBPC3c.3608C= (p.Ala1203=)
c.3590C= (p.Ala1197=)
c.3527C= (p.Ala1176=)
11g.47332585G>TCA380312287MYBPC3c.3608C>A (p.Ala1203Asp)
c.3590C>A (p.Ala1197Asp)
c.3527C>A (p.Ala1176Asp)
11g.47332586C>ACA380312290MYBPC3c.3607G>T (p.Ala1203Ser)
c.3589G>T (p.Ala1197Ser)
c.3526G>T (p.Ala1176Ser)
gnomAD v4
11g.47332586C>GCA380312292MYBPC3c.3607G>C (p.Ala1203Pro)
c.3589G>C (p.Ala1197Pro)
c.3526G>C (p.Ala1176Pro)

Number of alleles fetched