Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.68925563A>CCA390177885ACTN1c.20T>G (p.Ile7Ser)
n.503T>G
c.215T>G (p.Ile72Ser)
n.309T>G
c.212T>G (p.Ile71Ser)
c.152T>G (p.Ile51Ser)
c.146T>G (p.Ile49Ser)
c.302T>G (p.Ile101Ser)
14g.68925563A>GCA390177886ACTN1c.20T>C (p.Ile7Thr)
n.503T>C
c.215T>C (p.Ile72Thr)
n.309T>C
c.212T>C (p.Ile71Thr)
c.152T>C (p.Ile51Thr)
c.146T>C (p.Ile49Thr)
c.302T>C (p.Ile101Thr)
14g.68925563A>TCA390177887ACTN1c.20T>A (p.Ile7Asn)
n.503T>A
c.215T>A (p.Ile72Asn)
n.309T>A
c.212T>A (p.Ile71Asn)
c.152T>A (p.Ile51Asn)
c.146T>A (p.Ile49Asn)
c.302T>A (p.Ile101Asn)
14g.68925564T>ACA390177888ACTN1c.19A>T (p.Ile7Phe)
n.502A>T
c.214A>T (p.Ile72Phe)
n.308A>T
c.211A>T (p.Ile71Phe)
c.151A>T (p.Ile51Phe)
c.145A>T (p.Ile49Phe)
c.301A>T (p.Ile101Phe)
14g.68925564T>CCA390177889ACTN1c.19A>G (p.Ile7Val)
n.502A>G
c.214A>G (p.Ile72Val)
n.308A>G
c.211A>G (p.Ile71Val)
c.151A>G (p.Ile51Val)
c.145A>G (p.Ile49Val)
c.301A>G (p.Ile101Val)
14g.68925564T>GCA390177890ACTN1c.19A>C (p.Ile7Leu)
n.502A>C
c.214A>C (p.Ile72Leu)
n.308A>C
c.211A>C (p.Ile71Leu)
c.151A>C (p.Ile51Leu)
c.145A>C (p.Ile49Leu)
c.301A>C (p.Ile101Leu)
 gnomAD v4
14g.68925565G>ACA486985113ACTN1c.18C>T (p.Val6=)
n.501C>T
c.213C>T (p.Val71=)
n.307C>T
c.210C>T (p.Val70=)
c.150C>T (p.Val50=)
c.144C>T (p.Val48=)
c.300C>T (p.Val100=)
14g.68925565G>CCA486985115ACTN1c.18C>G (p.Val6=)
n.501C>G
c.213C>G (p.Val71=)
n.307C>G
c.210C>G (p.Val70=)
c.150C>G (p.Val50=)
c.144C>G (p.Val48=)
c.300C>G (p.Val100=)
14g.68925565G>TCA486985116ACTN1c.18C>A (p.Val6=)
n.501C>A
c.213C>A (p.Val71=)
n.307C>A
c.210C>A (p.Val70=)
c.150C>A (p.Val50=)
c.144C>A (p.Val48=)
c.300C>A (p.Val100=)
14g.68925566A>CCA390177891ACTN1c.17T>G (p.Val6Gly)
n.500T>G
c.212T>G (p.Val71Gly)
n.306T>G
c.209T>G (p.Val70Gly)
c.149T>G (p.Val50Gly)
c.143T>G (p.Val48Gly)
c.299T>G (p.Val100Gly)
14g.68925566A>GCA390177893ACTN1c.17T>C (p.Val6Ala)
n.500T>C
c.212T>C (p.Val71Ala)
n.306T>C
c.209T>C (p.Val70Ala)
c.149T>C (p.Val50Ala)
c.143T>C (p.Val48Ala)
c.299T>C (p.Val100Ala)
14g.68925566A>TCA390177892ACTN1c.17T>A (p.Val6Asp)
n.500T>A
c.212T>A (p.Val71Asp)
n.306T>A
c.209T>A (p.Val70Asp)
c.149T>A (p.Val50Asp)
c.143T>A (p.Val48Asp)
c.299T>A (p.Val100Asp)
14g.68925567C>ACA390177894ACTN1c.16G>T (p.Val6Phe)
n.499G>T
c.211G>T (p.Val71Phe)
n.305G>T
c.208G>T (p.Val70Phe)
c.148G>T (p.Val50Phe)
c.142G>T (p.Val48Phe)
c.298G>T (p.Val100Phe)
 gnomAD v4
14g.68925567C>GCA390177896ACTN1c.16G>C (p.Val6Leu)
n.499G>C
c.211G>C (p.Val71Leu)
n.305G>C
c.208G>C (p.Val70Leu)
c.148G>C (p.Val50Leu)
c.142G>C (p.Val48Leu)
c.298G>C (p.Val100Leu)
14g.68925567C>TCA390177895ACTN1c.16G>A (p.Val6Ile)
n.499G>A
c.211G>A (p.Val71Ile)
n.305G>A
c.208G>A (p.Val70Ile)
c.148G>A (p.Val50Ile)
c.142G>A (p.Val48Ile)
c.298G>A (p.Val100Ile)
14g.68925567_68925568delCA2802007148ACTN1c.15_16del (p.Glu5AspfsTer5)
n.498_499del
c.210_211del (p.Glu70AspfsTer5)
n.304_305del
c.210_211del (p.Glu70AspfsTer?)
c.207_208del (p.Glu69AspfsTer?)
c.147_148del (p.Glu49AspfsTer5)
c.141_142del (p.Glu47AspfsTer5)
c.297_298del (p.Glu99AspfsTer5)
14g.68925568C>ACA390177897ACTN1c.15G>T (p.Glu5Asp)
n.498G>T
c.210G>T (p.Glu70Asp)
n.304G>T
c.207G>T (p.Glu69Asp)
c.147G>T (p.Glu49Asp)
c.141G>T (p.Glu47Asp)
c.297G>T (p.Glu99Asp)
 gnomAD v4
14g.68925568C>GCA390177898ACTN1c.15G>C (p.Glu5Asp)
n.498G>C
c.210G>C (p.Glu70Asp)
n.304G>C
c.207G>C (p.Glu69Asp)
c.147G>C (p.Glu49Asp)
c.141G>C (p.Glu47Asp)
c.297G>C (p.Glu99Asp)
14g.68925568C>TCA486985127ACTN1c.15G>A (p.Glu5=)
n.498G>A
c.210G>A (p.Glu70=)
n.304G>A
c.207G>A (p.Glu69=)
c.147G>A (p.Glu49=)
c.141G>A (p.Glu47=)
c.297G>A (p.Glu99=)
14g.68925569T>ACA390177899ACTN1c.14A>T (p.Glu5Val)
n.497A>T
c.209A>T (p.Glu70Val)
n.303A>T
c.206A>T (p.Glu69Val)
c.146A>T (p.Glu49Val)
c.140A>T (p.Glu47Val)
c.296A>T (p.Glu99Val)
14g.68925569T>CCA390177901ACTN1c.14A>G (p.Glu5Gly)
n.497A>G
c.209A>G (p.Glu70Gly)
n.303A>G
c.206A>G (p.Glu69Gly)
c.146A>G (p.Glu49Gly)
c.140A>G (p.Glu47Gly)
c.296A>G (p.Glu99Gly)
14g.68925569T>GCA390177900ACTN1c.14A>C (p.Glu5Ala)
n.497A>C
c.209A>C (p.Glu70Ala)
n.303A>C
c.206A>C (p.Glu69Ala)
c.146A>C (p.Glu49Ala)
c.140A>C (p.Glu47Ala)
c.296A>C (p.Glu99Ala)
14g.68925570C>ACA390177902ACTN1c.13G>T (p.Glu5Ter)
n.496G>T
c.208G>T (p.Glu70Ter)
n.302G>T
c.205G>T (p.Glu69Ter)
c.145G>T (p.Glu49Ter)
c.139G>T (p.Glu47Ter)
c.295G>T (p.Glu99Ter)
14g.68925570C>GCA390177903ACTN1c.13G>C (p.Glu5Gln)
n.496G>C
c.208G>C (p.Glu70Gln)
n.302G>C
c.205G>C (p.Glu69Gln)
c.145G>C (p.Glu49Gln)
c.139G>C (p.Glu47Gln)
c.295G>C (p.Glu99Gln)
14g.68925570C>TCA390177904ACTN1c.13G>A (p.Glu5Lys)
n.496G>A
c.208G>A (p.Glu70Lys)
n.302G>A
c.205G>A (p.Glu69Lys)
c.145G>A (p.Glu49Lys)
c.139G>A (p.Glu47Lys)
c.295G>A (p.Glu99Lys)
14g.68925571delCA2802007149ACTN1c.13del (p.Glu5ArgfsTer16)
n.496del
c.208del (p.Glu70ArgfsTer16)
n.302del
c.208del (p.Glu70ArgfsTer11)
c.205del (p.Glu69ArgfsTer?)
c.145del (p.Glu49ArgfsTer16)
c.139del (p.Glu47ArgfsTer16)
c.295del (p.Glu99ArgfsTer16)
14g.68925571C>ACA486985138ACTN1c.12G>T (p.Leu4=)
n.495G>T
c.207G>T (p.Leu69=)
n.301G>T
c.204G>T (p.Leu68=)
c.144G>T (p.Leu48=)
c.138G>T (p.Leu46=)
c.294G>T (p.Leu98=)
 dbSNP gnomAD v4 COSMIC COSMIC
14g.68925571C=CA2144526282ACTN1c.12G= (p.Leu4=)
n.495G=
c.207G= (p.Leu69=)
n.301G=
c.204G= (p.Leu68=)
c.144G= (p.Leu48=)
c.138G= (p.Leu46=)
c.294G= (p.Leu98=)
14g.68925571C>GCA486985140ACTN1c.12G>C (p.Leu4=)
n.495G>C
c.207G>C (p.Leu69=)
n.301G>C
c.204G>C (p.Leu68=)
c.144G>C (p.Leu48=)
c.138G>C (p.Leu46=)
c.294G>C (p.Leu98=)
14g.68925571C>TCA486985136ACTN1c.12G>A (p.Leu4=)
n.495G>A
c.207G>A (p.Leu69=)
n.301G>A
c.204G>A (p.Leu68=)
c.144G>A (p.Leu48=)
c.138G>A (p.Leu46=)
c.294G>A (p.Leu98=)
 dbSNP gnomAD v3 gnomAD v4
14g.68925579_68925581delCA2625405069ACTN1c.10_12del (p.Leu4del)
n.493_495del
c.205_207del (p.Leu69del)
n.299_301del
c.202_204del (p.Leu68del)
c.142_144del (p.Leu48del)
c.136_138del (p.Leu46del)
c.292_294del (p.Leu98del)
 gnomAD v4
14g.68925572A>CCA390177905ACTN1c.11T>G (p.Leu4Arg)
n.494T>G
c.206T>G (p.Leu69Arg)
n.300T>G
c.203T>G (p.Leu68Arg)
c.143T>G (p.Leu48Arg)
c.137T>G (p.Leu46Arg)
c.293T>G (p.Leu98Arg)
14g.68925572A>GCA390177906ACTN1c.11T>C (p.Leu4Pro)
n.494T>C
c.206T>C (p.Leu69Pro)
n.300T>C
c.203T>C (p.Leu68Pro)
c.143T>C (p.Leu48Pro)
c.137T>C (p.Leu46Pro)
c.293T>C (p.Leu98Pro)
14g.68925572A>TCA390177907ACTN1c.11T>A (p.Leu4Gln)
n.494T>A
c.206T>A (p.Leu69Gln)
n.300T>A
c.203T>A (p.Leu68Gln)
c.143T>A (p.Leu48Gln)
c.137T>A (p.Leu46Gln)
c.293T>A (p.Leu98Gln)
14g.68925573G>ACA7242787ACTN1c.10C>T (p.Leu4=)
n.493C>T
c.205C>T (p.Leu69=)
n.299C>T
c.202C>T (p.Leu68=)
c.142C>T (p.Leu48=)
c.136C>T (p.Leu46=)
c.292C>T (p.Leu98=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.68925573G>CCA390177908ACTN1c.10C>G (p.Leu4Val)
n.493C>G
c.205C>G (p.Leu69Val)
n.299C>G
c.202C>G (p.Leu68Val)
c.142C>G (p.Leu48Val)
c.136C>G (p.Leu46Val)
c.292C>G (p.Leu98Val)
14g.68925573G=CA2144526283ACTN1c.10C= (p.Leu4=)
n.493C=
c.205C= (p.Leu69=)
n.299C=
c.202C= (p.Leu68=)
c.142C= (p.Leu48=)
c.136C= (p.Leu46=)
c.292C= (p.Leu98=)
14g.68925573G>TCA390177909ACTN1c.10C>A (p.Leu4Met)
n.493C>A
c.205C>A (p.Leu69Met)
n.299C>A
c.202C>A (p.Leu68Met)
c.142C>A (p.Leu48Met)
c.136C>A (p.Leu46Met)
c.292C>A (p.Leu98Met)
14g.68925574C>ACA486985153ACTN1c.9G>T (p.Leu3=)
n.492G>T
c.204G>T (p.Leu68=)
n.298G>T
c.201G>T (p.Leu67=)
c.141G>T (p.Leu47=)
c.135G>T (p.Leu45=)
c.291G>T (p.Leu97=)
14g.68925574C=CA2144526284ACTN1c.9G= (p.Leu3=)
n.492G=
c.204G= (p.Leu68=)
n.298G=
c.201G= (p.Leu67=)
c.141G= (p.Leu47=)
c.135G= (p.Leu45=)
c.291G= (p.Leu97=)
14g.68925574C>GCA486985150ACTN1c.9G>C (p.Leu3=)
n.492G>C
c.204G>C (p.Leu68=)
n.298G>C
c.201G>C (p.Leu67=)
c.141G>C (p.Leu47=)
c.135G>C (p.Leu45=)
c.291G>C (p.Leu97=)
 dbSNP gnomAD v3 gnomAD v4
14g.68925574C>TCA486985152ACTN1c.9G>A (p.Leu3=)
n.492G>A
c.204G>A (p.Leu68=)
n.298G>A
c.201G>A (p.Leu67=)
c.141G>A (p.Leu47=)
c.135G>A (p.Leu45=)
c.291G>A (p.Leu97=)
 dbSNP
14g.68925575A=CA2144526285ACTN1c.8T= (p.Leu3=)
n.491T=
c.203T= (p.Leu68=)
n.297T=
c.200T= (p.Leu67=)
c.140T= (p.Leu47=)
c.134T= (p.Leu45=)
c.290T= (p.Leu97=)
14g.68925575A>CCA390177910ACTN1c.8T>G (p.Leu3Arg)
n.491T>G
c.203T>G (p.Leu68Arg)
n.297T>G
c.200T>G (p.Leu67Arg)
c.140T>G (p.Leu47Arg)
c.134T>G (p.Leu45Arg)
c.290T>G (p.Leu97Arg)
14g.68925575A>GCA7242788ACTN1c.8T>C (p.Leu3Pro)
n.491T>C
c.203T>C (p.Leu68Pro)
n.297T>C
c.200T>C (p.Leu67Pro)
c.140T>C (p.Leu47Pro)
c.134T>C (p.Leu45Pro)
c.290T>C (p.Leu97Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.68925575A>TCA390177911ACTN1c.8T>A (p.Leu3Gln)
n.491T>A
c.203T>A (p.Leu68Gln)
n.297T>A
c.200T>A (p.Leu67Gln)
c.140T>A (p.Leu47Gln)
c.134T>A (p.Leu45Gln)
c.290T>A (p.Leu97Gln)
14g.68925576G>ACA486985160ACTN1c.7C>T (p.Leu3=)
n.490C>T
c.202C>T (p.Leu68=)
n.296C>T
c.199C>T (p.Leu67=)
c.139C>T (p.Leu47=)
c.133C>T (p.Leu45=)
c.289C>T (p.Leu97=)
14g.68925576G>CCA390177913ACTN1c.7C>G (p.Leu3Val)
n.490C>G
c.202C>G (p.Leu68Val)
n.296C>G
c.199C>G (p.Leu67Val)
c.139C>G (p.Leu47Val)
c.133C>G (p.Leu45Val)
c.289C>G (p.Leu97Val)
14g.68925576G=CA2144526286ACTN1c.7C= (p.Leu3=)
n.490C=
c.202C= (p.Leu68=)
n.296C=
c.199C= (p.Leu67=)
c.139C= (p.Leu47=)
c.133C= (p.Leu45=)
c.289C= (p.Leu97=)
14g.68925576G>TCA390177912ACTN1c.7C>A (p.Leu3Met)
n.490C>A
c.202C>A (p.Leu68Met)
n.296C>A
c.199C>A (p.Leu67Met)
c.139C>A (p.Leu47Met)
c.133C>A (p.Leu45Met)
c.289C>A (p.Leu97Met)
 dbSNP
14g.68925577C>ACA486985163ACTN1c.6G>T (p.Leu2=)
n.489G>T
c.201G>T (p.Leu67=)
n.295G>T
c.198G>T (p.Leu66=)
c.138G>T (p.Leu46=)
c.132G>T (p.Leu44=)
c.288G>T (p.Leu96=)
14g.68925577C>GCA486985167ACTN1c.6G>C (p.Leu2=)
n.489G>C
c.201G>C (p.Leu67=)
n.295G>C
c.198G>C (p.Leu66=)
c.138G>C (p.Leu46=)
c.132G>C (p.Leu44=)
c.288G>C (p.Leu96=)
14g.68925577C>TCA486985165ACTN1c.6G>A (p.Leu2=)
n.489G>A
c.201G>A (p.Leu67=)
n.295G>A
c.198G>A (p.Leu66=)
c.138G>A (p.Leu46=)
c.132G>A (p.Leu44=)
c.288G>A (p.Leu96=)
14g.68925578A>CCA390177914ACTN1c.5T>G (p.Leu2Arg)
n.488T>G
c.200T>G (p.Leu67Arg)
n.294T>G
c.197T>G (p.Leu66Arg)
c.137T>G (p.Leu46Arg)
c.131T>G (p.Leu44Arg)
c.287T>G (p.Leu96Arg)
14g.68925578A>GCA390177915ACTN1c.5T>C (p.Leu2Pro)
n.488T>C
c.200T>C (p.Leu67Pro)
n.294T>C
c.197T>C (p.Leu66Pro)
c.137T>C (p.Leu46Pro)
c.131T>C (p.Leu44Pro)
c.287T>C (p.Leu96Pro)
14g.68925578A>TCA390177916ACTN1c.5T>A (p.Leu2Gln)
n.488T>A
c.200T>A (p.Leu67Gln)
n.294T>A
c.197T>A (p.Leu66Gln)
c.137T>A (p.Leu46Gln)
c.131T>A (p.Leu44Gln)
c.287T>A (p.Leu96Gln)
14g.68925579G>ACA486985172ACTN1c.4C>T (p.Leu2=)
n.487C>T
c.199C>T (p.Leu67=)
n.293C>T
c.196C>T (p.Leu66=)
c.136C>T (p.Leu46=)
c.130C>T (p.Leu44=)
c.286C>T (p.Leu96=)
14g.68925579G>CCA390177917ACTN1c.4C>G (p.Leu2Val)
n.487C>G
c.199C>G (p.Leu67Val)
n.293C>G
c.196C>G (p.Leu66Val)
c.136C>G (p.Leu46Val)
c.130C>G (p.Leu44Val)
c.286C>G (p.Leu96Val)
 dbSNP
14g.68925579G=CA2144526287ACTN1c.4C= (p.Leu2=)
n.487C=
c.199C= (p.Leu67=)
n.293C=
c.196C= (p.Leu66=)
c.136C= (p.Leu46=)
c.130C= (p.Leu44=)
c.286C= (p.Leu96=)
14g.68925579G>TCA390177918ACTN1c.4C>A (p.Leu2Met)
n.487C>A
c.199C>A (p.Leu67Met)
n.293C>A
c.196C>A (p.Leu66Met)
c.136C>A (p.Leu46Met)
c.130C>A (p.Leu44Met)
c.286C>A (p.Leu96Met)
14g.68925580C>ACA390177919ACTN1c.3G>T (p.Met1Ile)
n.486G>T
c.198G>T (p.Met66Ile)
n.292G>T
c.195G>T (p.Met65Ile)
c.135G>T (p.Met45Ile)
c.129G>T (p.Met43Ile)
c.285G>T (p.Met95Ile)
14g.68925580C>GCA390177920ACTN1c.3G>C (p.Met1Ile)
n.486G>C
c.198G>C (p.Met66Ile)
n.292G>C
c.195G>C (p.Met65Ile)
c.135G>C (p.Met45Ile)
c.129G>C (p.Met43Ile)
c.285G>C (p.Met95Ile)
14g.68925580C>TCA390177921ACTN1c.3G>A (p.Met1Ile)
n.486G>A
c.198G>A (p.Met66Ile)
n.292G>A
c.195G>A (p.Met65Ile)
c.135G>A (p.Met45Ile)
c.129G>A (p.Met43Ile)
c.285G>A (p.Met95Ile)
14g.68925581A>CCA390177922ACTN1c.2T>G (p.Met1Arg)
n.485T>G
c.197T>G (p.Met66Arg)
n.291T>G
c.194T>G (p.Met65Arg)
c.134T>G (p.Met45Arg)
c.128T>G (p.Met43Arg)
c.284T>G (p.Met95Arg)
14g.68925581A>GCA390177923ACTN1c.2T>C (p.Met1Thr)
n.485T>C
c.197T>C (p.Met66Thr)
n.291T>C
c.194T>C (p.Met65Thr)
c.134T>C (p.Met45Thr)
c.128T>C (p.Met43Thr)
c.284T>C (p.Met95Thr)
14g.68925581A>TCA390177924ACTN1c.2T>A (p.Met1Lys)
n.485T>A
c.197T>A (p.Met66Lys)
n.291T>A
c.194T>A (p.Met65Lys)
c.134T>A (p.Met45Lys)
c.128T>A (p.Met43Lys)
c.284T>A (p.Met95Lys)
14g.68925582T>ACA390177927ACTN1c.1A>T (p.Met1Leu)
n.484A>T
c.196A>T (p.Met66Leu)
n.290A>T
c.193A>T (p.Met65Leu)
c.133A>T (p.Met45Leu)
c.127A>T (p.Met43Leu)
c.283A>T (p.Met95Leu)
14g.68925582T>CCA390177926ACTN1c.1A>G (p.Met1Val)
n.484A>G
c.196A>G (p.Met66Val)
n.290A>G
c.193A>G (p.Met65Val)
c.133A>G (p.Met45Val)
c.127A>G (p.Met43Val)
c.283A>G (p.Met95Val)
 dbSNP gnomAD v2 gnomAD v4
14g.68925582T>GCA390177925ACTN1c.1A>C (p.Met1Leu)
n.484A>C
c.196A>C (p.Met66Leu)
n.290A>C
c.193A>C (p.Met65Leu)
c.133A>C (p.Met45Leu)
c.127A>C (p.Met43Leu)
c.283A>C (p.Met95Leu)
 gnomAD v4
14g.68925582T=CA2144526288ACTN1c.1A= (p.Met1=)
n.484A=
c.196A= (p.Met66=)
n.290A=
c.193A= (p.Met65=)
c.133A= (p.Met45=)
c.127A= (p.Met43=)
c.283A= (p.Met95=)
14g.68925583G>ACA486985183ACTN1c.-1C>T (n.-1C>T)
n.483C>T
c.195C>T (p.Leu65=)
n.289C>T
c.192C>T (p.Leu64=)
c.132C>T (p.Leu44=)
c.126C>T (p.Leu42=)
c.282C>T (p.Leu94=)
 dbSNP gnomAD v2 gnomAD v4
14g.68925583G>CCA486985184ACTN1c.-1C>G (n.-1C>G)
n.483C>G
c.195C>G (p.Leu65=)
n.289C>G
c.192C>G (p.Leu64=)
c.132C>G (p.Leu44=)
c.126C>G (p.Leu42=)
c.282C>G (p.Leu94=)
14g.68925583G=CA2144526289ACTN1c.-1C= (n.-1C=)
n.483C=
c.195C= (p.Leu65=)
n.289C=
c.192C= (p.Leu64=)
c.132C= (p.Leu44=)
c.126C= (p.Leu42=)
c.282C= (p.Leu94=)
14g.68925583G>TCA486985185ACTN1c.-1C>A (n.-1C>A)
n.483C>A
c.195C>A (p.Leu65=)
n.289C>A
c.192C>A (p.Leu64=)
c.132C>A (p.Leu44=)
c.126C>A (p.Leu42=)
c.282C>A (p.Leu94=)
14g.68925584A>CCA390177928ACTN1c.-2T>G (n.-2T>G)
n.482T>G
c.194T>G (p.Leu65Arg)
n.288T>G
c.191T>G (p.Leu64Arg)
c.131T>G (p.Leu44Arg)
c.125T>G (p.Leu42Arg)
c.281T>G (p.Leu94Arg)
14g.68925584A>GCA390177929ACTN1c.-2T>C (n.-2T>C)
n.482T>C
c.194T>C (p.Leu65Pro)
n.288T>C
c.191T>C (p.Leu64Pro)
c.131T>C (p.Leu44Pro)
c.125T>C (p.Leu42Pro)
c.281T>C (p.Leu94Pro)
14g.68925584A>TCA390177930ACTN1c.-2T>A (n.-2T>A)
n.482T>A
c.194T>A (p.Leu65His)
n.288T>A
c.191T>A (p.Leu64His)
c.131T>A (p.Leu44His)
c.125T>A (p.Leu42His)
c.281T>A (p.Leu94His)
14g.68925585G>ACA390177931ACTN1c.-3C>T (n.-3C>T)
n.481C>T
c.193C>T (p.Leu65Phe)
n.287C>T
c.190C>T (p.Leu64Phe)
c.130C>T (p.Leu44Phe)
c.124C>T (p.Leu42Phe)
c.280C>T (p.Leu94Phe)
14g.68925585G>CCA390177932ACTN1c.-3C>G (n.-3C>G)
n.481C>G
c.193C>G (p.Leu65Val)
n.287C>G
c.190C>G (p.Leu64Val)
c.130C>G (p.Leu44Val)
c.124C>G (p.Leu42Val)
c.280C>G (p.Leu94Val)
14g.68925585G>TCA390177933ACTN1c.-3C>A (n.-3C>A)
n.481C>A
c.193C>A (p.Leu65Ile)
n.287C>A
c.190C>A (p.Leu64Ile)
c.130C>A (p.Leu44Ile)
c.124C>A (p.Leu42Ile)
c.280C>A (p.Leu94Ile)
14g.68925586C>ACA390177935ACTN1c.-4G>T (n.-4G>T)
n.480G>T
c.192G>T (p.Lys64Asn)
n.286G>T
c.189G>T (p.Lys63Asn)
c.129G>T (p.Lys43Asn)
c.123G>T (p.Lys41Asn)
c.279G>T (p.Lys93Asn)
 COSMIC COSMIC
14g.68925586C>GCA390177934ACTN1c.-4G>C (n.-4G>C)
n.480G>C
c.192G>C (p.Lys64Asn)
n.286G>C
c.189G>C (p.Lys63Asn)
c.129G>C (p.Lys43Asn)
c.123G>C (p.Lys41Asn)
c.279G>C (p.Lys93Asn)
14g.68925586C>TCA486985188ACTN1c.-4G>A (n.-4G>A)
n.480G>A
c.192G>A (p.Lys64=)
n.286G>A
c.189G>A (p.Lys63=)
c.129G>A (p.Lys43=)
c.123G>A (p.Lys41=)
c.279G>A (p.Lys93=)
14g.68925587T>ACA390177936ACTN1c.-5A>T (n.-5A>T)
n.479A>T
c.191A>T (p.Lys64Met)
n.285A>T
c.188A>T (p.Lys63Met)
c.128A>T (p.Lys43Met)
c.122A>T (p.Lys41Met)
c.278A>T (p.Lys93Met)
14g.68925587T>CCA390177937ACTN1c.-5A>G (n.-5A>G)
n.479A>G
c.191A>G (p.Lys64Arg)
n.285A>G
c.188A>G (p.Lys63Arg)
c.128A>G (p.Lys43Arg)
c.122A>G (p.Lys41Arg)
c.278A>G (p.Lys93Arg)
14g.68925587T>GCA390177938ACTN1c.-5A>C (n.-5A>C)
n.479A>C
c.191A>C (p.Lys64Thr)
n.285A>C
c.188A>C (p.Lys63Thr)
c.128A>C (p.Lys43Thr)
c.122A>C (p.Lys41Thr)
c.278A>C (p.Lys93Thr)
14g.68925588T>ACA390177939ACTN1c.-6A>T (n.-6A>T)
n.478A>T
c.190A>T (p.Lys64Ter)
n.284A>T
c.187A>T (p.Lys63Ter)
c.127A>T (p.Lys43Ter)
c.121A>T (p.Lys41Ter)
c.277A>T (p.Lys93Ter)
14g.68925588T>CCA390177940ACTN1c.-6A>G (n.-6A>G)
n.478A>G
c.190A>G (p.Lys64Glu)
n.284A>G
c.187A>G (p.Lys63Glu)
c.127A>G (p.Lys43Glu)
c.121A>G (p.Lys41Glu)
c.277A>G (p.Lys93Glu)
14g.68925588T>GCA390177941ACTN1c.-6A>C (n.-6A>C)
n.478A>C
c.190A>C (p.Lys64Gln)
n.284A>C
c.187A>C (p.Lys63Gln)
c.127A>C (p.Lys43Gln)
c.121A>C (p.Lys41Gln)
c.277A>C (p.Lys93Gln)
14g.68925589C>ACA486985192ACTN1c.-7G>T (n.-7G>T)
n.477G>T
c.189G>T (p.Leu63=)
n.283G>T
c.186G>T (p.Leu62=)
c.126G>T (p.Leu42=)
c.120G>T (p.Leu40=)
c.276G>T (p.Leu92=)
14g.68925589C>GCA486985193ACTN1c.-7G>C (n.-7G>C)
n.477G>C
c.189G>C (p.Leu63=)
n.283G>C
c.186G>C (p.Leu62=)
c.126G>C (p.Leu42=)
c.120G>C (p.Leu40=)
c.276G>C (p.Leu92=)
14g.68925589C>TCA486985194ACTN1c.-7G>A (n.-7G>A)
n.477G>A
c.189G>A (p.Leu63=)
n.283G>A
c.186G>A (p.Leu62=)
c.126G>A (p.Leu42=)
c.120G>A (p.Leu40=)
c.276G>A (p.Leu92=)
14g.68925590A=CA2144526290ACTN1c.-8T= (n.-8T=)
n.476T=
c.188T= (p.Leu63=)
n.282T=
c.185T= (p.Leu62=)
c.125T= (p.Leu42=)
c.119T= (p.Leu40=)
c.275T= (p.Leu92=)
14g.68925590A>CCA390177942ACTN1c.-8T>G (n.-8T>G)
n.476T>G
c.188T>G (p.Leu63Arg)
n.282T>G
c.185T>G (p.Leu62Arg)
c.125T>G (p.Leu42Arg)
c.119T>G (p.Leu40Arg)
c.275T>G (p.Leu92Arg)
14g.68925590A>GCA390177944ACTN1c.-8T>C (n.-8T>C)
n.476T>C
c.188T>C (p.Leu63Pro)
n.282T>C
c.185T>C (p.Leu62Pro)
c.125T>C (p.Leu42Pro)
c.119T>C (p.Leu40Pro)
c.275T>C (p.Leu92Pro)
 dbSNP gnomAD v2 gnomAD v4
14g.68925590A>TCA390177943ACTN1c.-8T>A (n.-8T>A)
n.476T>A
c.188T>A (p.Leu63Gln)
n.282T>A
c.185T>A (p.Leu62Gln)
c.125T>A (p.Leu42Gln)
c.119T>A (p.Leu40Gln)
c.275T>A (p.Leu92Gln)
14g.68925591G>ACA486985195ACTN1c.-9C>T (n.-9C>T)
n.475C>T
c.187C>T (p.Leu63=)
n.281C>T
c.184C>T (p.Leu62=)
c.124C>T (p.Leu42=)
c.118C>T (p.Leu40=)
c.274C>T (p.Leu92=)
14g.68925591G>CCA390177945ACTN1c.-9C>G (n.-9C>G)
n.475C>G
c.187C>G (p.Leu63Val)
n.281C>G
c.184C>G (p.Leu62Val)
c.124C>G (p.Leu42Val)
c.118C>G (p.Leu40Val)
c.274C>G (p.Leu92Val)
14g.68925591G>TCA390177946ACTN1c.-9C>A (n.-9C>A)
n.475C>A
c.187C>A (p.Leu63Met)
n.281C>A
c.184C>A (p.Leu62Met)
c.124C>A (p.Leu42Met)
c.118C>A (p.Leu40Met)
c.274C>A (p.Leu92Met)
14g.68925592G>ACA486985198ACTN1c.-10C>T (n.-10C>T)
n.474C>T
c.186C>T (p.Gly62=)
n.280C>T
c.183C>T (p.Gly61=)
c.123C>T (p.Gly41=)
c.117C>T (p.Gly39=)
c.273C>T (p.Gly91=)
 ClinVar dbSNP gnomAD v2 COSMIC COSMIC
14g.68925592G>CCA486985197ACTN1c.-10C>G (n.-10C>G)
n.474C>G
c.186C>G (p.Gly62=)
n.280C>G
c.183C>G (p.Gly61=)
c.123C>G (p.Gly41=)
c.117C>G (p.Gly39=)
c.273C>G (p.Gly91=)
14g.68925592G=CA2144526291ACTN1c.-10C= (n.-10C=)
n.474C=
c.186C= (p.Gly62=)
n.280C=
c.183C= (p.Gly61=)
c.123C= (p.Gly41=)
c.117C= (p.Gly39=)
c.273C= (p.Gly91=)
14g.68925592G>TCA486985196ACTN1c.-10C>A (n.-10C>A)
n.474C>A
c.186C>A (p.Gly62=)
n.280C>A
c.183C>A (p.Gly61=)
c.123C>A (p.Gly41=)
c.117C>A (p.Gly39=)
c.273C>A (p.Gly91=)
14g.68925593C>ACA390177947ACTN1c.-11G>T (n.-11G>T)
n.473G>T
c.185G>T (p.Gly62Val)
n.279G>T
c.182G>T (p.Gly61Val)
c.122G>T (p.Gly41Val)
c.116G>T (p.Gly39Val)
c.272G>T (p.Gly91Val)
14g.68925593C>GCA390177948ACTN1c.-11G>C (n.-11G>C)
n.473G>C
c.185G>C (p.Gly62Ala)
n.279G>C
c.182G>C (p.Gly61Ala)
c.122G>C (p.Gly41Ala)
c.116G>C (p.Gly39Ala)
c.272G>C (p.Gly91Ala)
14g.68925593C>TCA390177949ACTN1c.-11G>A (n.-11G>A)
n.473G>A
c.185G>A (p.Gly62Asp)
n.279G>A
c.182G>A (p.Gly61Asp)
c.122G>A (p.Gly41Asp)
c.116G>A (p.Gly39Asp)
c.272G>A (p.Gly91Asp)
14g.68925594C>ACA390177950ACTN1c.-12G>T (n.-12G>T)
n.472G>T
c.184G>T (p.Gly62Cys)
n.278G>T
c.181G>T (p.Gly61Cys)
c.121G>T (p.Gly41Cys)
c.115G>T (p.Gly39Cys)
c.271G>T (p.Gly91Cys)
14g.68925594C>GCA390177951ACTN1c.-12G>C (n.-12G>C)
n.472G>C
c.184G>C (p.Gly62Arg)
n.278G>C
c.181G>C (p.Gly61Arg)
c.121G>C (p.Gly41Arg)
c.115G>C (p.Gly39Arg)
c.271G>C (p.Gly91Arg)
14g.68925594C>TCA390177952ACTN1c.-12G>A (n.-12G>A)
n.472G>A
c.184G>A (p.Gly62Ser)
n.278G>A
c.181G>A (p.Gly61Ser)
c.121G>A (p.Gly41Ser)
c.115G>A (p.Gly39Ser)
c.271G>A (p.Gly91Ser)
14g.68925595A>CCA390177953ACTN1c.-13T>G (n.-13T>G)
n.471T>G
c.183T>G (p.Asp61Glu)
n.277T>G
c.180T>G (p.Asp60Glu)
c.120T>G (p.Asp40Glu)
c.114T>G (p.Asp38Glu)
c.270T>G (p.Asp90Glu)
14g.68925595A>GCA486985201ACTN1c.-13T>C (n.-13T>C)
n.471T>C
c.183T>C (p.Asp61=)
n.277T>C
c.180T>C (p.Asp60=)
c.120T>C (p.Asp40=)
c.114T>C (p.Asp38=)
c.270T>C (p.Asp90=)
14g.68925595A>TCA390177954ACTN1c.-13T>A (n.-13T>A)
n.471T>A
c.183T>A (p.Asp61Glu)
n.277T>A
c.180T>A (p.Asp60Glu)
c.120T>A (p.Asp40Glu)
c.114T>A (p.Asp38Glu)
c.270T>A (p.Asp90Glu)
14g.68925596T>ACA390177957ACTN1c.-14A>T (n.-14A>T)
n.470A>T
c.182A>T (p.Asp61Val)
n.276A>T
c.179A>T (p.Asp60Val)
c.119A>T (p.Asp40Val)
c.113A>T (p.Asp38Val)
c.269A>T (p.Asp90Val)
 dbSNP
14g.68925596T>CCA390177956ACTN1c.-14A>G (n.-14A>G)
n.470A>G
c.182A>G (p.Asp61Gly)
n.276A>G
c.179A>G (p.Asp60Gly)
c.119A>G (p.Asp40Gly)
c.113A>G (p.Asp38Gly)
c.269A>G (p.Asp90Gly)
14g.68925596T>GCA390177955ACTN1c.-14A>C (n.-14A>C)
n.470A>C
c.182A>C (p.Asp61Ala)
n.276A>C
c.179A>C (p.Asp60Ala)
c.119A>C (p.Asp40Ala)
c.113A>C (p.Asp38Ala)
c.269A>C (p.Asp90Ala)
 gnomAD v4
14g.68925596T=CA2144526292ACTN1c.-14A= (n.-14A=)
n.470A=
c.182A= (p.Asp61=)
n.276A=
c.179A= (p.Asp60=)
c.119A= (p.Asp40=)
c.113A= (p.Asp38=)
c.269A= (p.Asp90=)
14g.68925597C>ACA390177958ACTN1c.-15G>T (n.-15G>T)
n.469G>T
c.181G>T (p.Asp61Tyr)
n.275G>T
c.178G>T (p.Asp60Tyr)
c.118G>T (p.Asp40Tyr)
c.112G>T (p.Asp38Tyr)
c.268G>T (p.Asp90Tyr)
14g.68925597C>GCA390177959ACTN1c.-15G>C (n.-15G>C)
n.469G>C
c.181G>C (p.Asp61His)
n.275G>C
c.178G>C (p.Asp60His)
c.118G>C (p.Asp40His)
c.112G>C (p.Asp38His)
c.268G>C (p.Asp90His)
14g.68925597C>TCA390177960ACTN1c.-15G>A (n.-15G>A)
n.469G>A
c.181G>A (p.Asp61Asn)
n.275G>A
c.178G>A (p.Asp60Asn)
c.118G>A (p.Asp40Asn)
c.112G>A (p.Asp38Asn)
c.268G>A (p.Asp90Asn)
14g.68925598C>ACA486985207ACTN1c.-16G>T (n.-16G>T)
n.468G>T
c.180G>T (p.Arg60=)
n.274G>T
c.177G>T (p.Arg59=)
c.117G>T (p.Arg39=)
c.111G>T (p.Arg37=)
c.267G>T (p.Arg89=)
14g.68925598C>GCA486985205ACTN1c.-16G>C (n.-16G>C)
n.468G>C
c.180G>C (p.Arg60=)
n.274G>C
c.177G>C (p.Arg59=)
c.117G>C (p.Arg39=)
c.111G>C (p.Arg37=)
c.267G>C (p.Arg89=)
14g.68925598C>TCA486985206ACTN1c.-16G>A (n.-16G>A)
n.468G>A
c.180G>A (p.Arg60=)
n.274G>A
c.177G>A (p.Arg59=)
c.117G>A (p.Arg39=)
c.111G>A (p.Arg37=)
c.267G>A (p.Arg89=)
14g.68925599C>ACA390177961ACTN1c.-17G>T (n.-17G>T)
n.467G>T
c.179G>T (p.Arg60Leu)
n.273G>T
c.176G>T (p.Arg59Leu)
c.116G>T (p.Arg39Leu)
c.110G>T (p.Arg37Leu)
c.266G>T (p.Arg89Leu)
14g.68925599C=CA2144526293ACTN1c.-17G= (n.-17G=)
n.467G=
c.179G= (p.Arg60=)
n.273G=
c.176G= (p.Arg59=)
c.116G= (p.Arg39=)
c.110G= (p.Arg37=)
c.266G= (p.Arg89=)
14g.68925599C>GCA390177962ACTN1c.-17G>C (n.-17G>C)
n.467G>C
c.179G>C (p.Arg60Pro)
n.273G>C
c.176G>C (p.Arg59Pro)
c.116G>C (p.Arg39Pro)
c.110G>C (p.Arg37Pro)
c.266G>C (p.Arg89Pro)
14g.68925599C>TCA7242789ACTN1c.-17G>A (n.-17G>A)
n.467G>A
c.179G>A (p.Arg60Gln)
n.273G>A
c.176G>A (p.Arg59Gln)
c.116G>A (p.Arg39Gln)
c.110G>A (p.Arg37Gln)
c.266G>A (p.Arg89Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.68925600G>ACA262874364ACTN1c.-18C>T (n.-18C>T)
n.466C>T
c.178C>T (p.Arg60Trp)
n.272C>T
c.175C>T (p.Arg59Trp)
c.115C>T (p.Arg39Trp)
c.109C>T (p.Arg37Trp)
c.265C>T (p.Arg89Trp)
 dbSNP gnomAD v2 gnomAD v4
14g.68925600G>CCA390177963ACTN1c.-18C>G (n.-18C>G)
n.466C>G
c.178C>G (p.Arg60Gly)
n.272C>G
c.175C>G (p.Arg59Gly)
c.115C>G (p.Arg39Gly)
c.109C>G (p.Arg37Gly)
c.265C>G (p.Arg89Gly)
14g.68925600G=CA2144526294ACTN1c.-18C= (n.-18C=)
n.466C=
c.178C= (p.Arg60=)
n.272C=
c.175C= (p.Arg59=)
c.115C= (p.Arg39=)
c.109C= (p.Arg37=)
c.265C= (p.Arg89=)
14g.68925600G>TCA486985209ACTN1c.-18C>A (n.-18C>A)
n.466C>A
c.178C>A (p.Arg60=)
n.272C>A
c.175C>A (p.Arg59=)
c.115C>A (p.Arg39=)
c.109C>A (p.Arg37=)
c.265C>A (p.Arg89=)
14g.68925601G>ACA486985210ACTN1c.-19C>T (n.-19C>T)
n.465C>T
c.177C>T (p.Phe59=)
n.271C>T
c.174C>T (p.Phe58=)
c.114C>T (p.Phe38=)
c.108C>T (p.Phe36=)
c.264C>T (p.Phe88=)
14g.68925601G>CCA390177964ACTN1c.-19C>G (n.-19C>G)
n.465C>G
c.177C>G (p.Phe59Leu)
n.271C>G
c.174C>G (p.Phe58Leu)
c.114C>G (p.Phe38Leu)
c.108C>G (p.Phe36Leu)
c.264C>G (p.Phe88Leu)
 dbSNP gnomAD v2
14g.68925601G=CA2144526295ACTN1c.-19C= (n.-19C=)
n.465C=
c.177C= (p.Phe59=)
n.271C=
c.174C= (p.Phe58=)
c.114C= (p.Phe38=)
c.108C= (p.Phe36=)
c.264C= (p.Phe88=)
14g.68925601G>TCA390177965ACTN1c.-19C>A (n.-19C>A)
n.465C>A
c.177C>A (p.Phe59Leu)
n.271C>A
c.174C>A (p.Phe58Leu)
c.114C>A (p.Phe38Leu)
c.108C>A (p.Phe36Leu)
c.264C>A (p.Phe88Leu)
 gnomAD v4
14g.68925602A=CA2144526296ACTN1c.-20T= (n.-20T=)
n.464T=
c.176T= (p.Phe59=)
n.270T=
c.173T= (p.Phe58=)
c.113T= (p.Phe38=)
c.107T= (p.Phe36=)
c.263T= (p.Phe88=)
14g.68925602A>CCA390177966ACTN1c.-20T>G (n.-20T>G)
n.464T>G
c.176T>G (p.Phe59Cys)
n.270T>G
c.173T>G (p.Phe58Cys)
c.113T>G (p.Phe38Cys)
c.107T>G (p.Phe36Cys)
c.263T>G (p.Phe88Cys)
 gnomAD v4
14g.68925602A>GCA390177967ACTN1c.-20T>C (n.-20T>C)
n.464T>C
c.176T>C (p.Phe59Ser)
n.270T>C
c.173T>C (p.Phe58Ser)
c.113T>C (p.Phe38Ser)
c.107T>C (p.Phe36Ser)
c.263T>C (p.Phe88Ser)
14g.68925602A>TCA7242790ACTN1c.-20T>A (n.-20T>A)
n.464T>A
c.176T>A (p.Phe59Tyr)
n.270T>A
c.173T>A (p.Phe58Tyr)
c.113T>A (p.Phe38Tyr)
c.107T>A (p.Phe36Tyr)
c.263T>A (p.Phe88Tyr)
 dbSNP ExAC gnomAD v4
14g.68925603A>CCA390177970ACTN1c.-21T>G (n.-21T>G)
n.463T>G
c.175T>G (p.Phe59Val)
n.269T>G
c.172T>G (p.Phe58Val)
c.112T>G (p.Phe38Val)
c.106T>G (p.Phe36Val)
c.262T>G (p.Phe88Val)
14g.68925603A>GCA390177969ACTN1c.-21T>C (n.-21T>C)
n.463T>C
c.175T>C (p.Phe59Leu)
n.269T>C
c.172T>C (p.Phe58Leu)
c.112T>C (p.Phe38Leu)
c.106T>C (p.Phe36Leu)
c.262T>C (p.Phe88Leu)
14g.68925603A>TCA390177968ACTN1c.-21T>A (n.-21T>A)
n.463T>A
c.175T>A (p.Phe59Ile)
n.269T>A
c.172T>A (p.Phe58Ile)
c.112T>A (p.Phe38Ile)
c.106T>A (p.Phe36Ile)
c.262T>A (p.Phe88Ile)
14g.68925604G>ACA486985215ACTN1c.-22C>T (n.-22C>T)
n.462C>T
c.174C>T (p.Asp58=)
n.268C>T
c.171C>T (p.Asp57=)
c.111C>T (p.Asp37=)
c.105C>T (p.Asp35=)
c.261C>T (p.Asp87=)
14g.68925604G>CCA390177971ACTN1c.-22C>G (n.-22C>G)
n.462C>G
c.174C>G (p.Asp58Glu)
n.268C>G
c.171C>G (p.Asp57Glu)
c.111C>G (p.Asp37Glu)
c.105C>G (p.Asp35Glu)
c.261C>G (p.Asp87Glu)
14g.68925604G>TCA390177972ACTN1c.-22C>A (n.-22C>A)
n.462C>A
c.174C>A (p.Asp58Glu)
n.268C>A
c.171C>A (p.Asp57Glu)
c.111C>A (p.Asp37Glu)
c.105C>A (p.Asp35Glu)
c.261C>A (p.Asp87Glu)
14g.68925605T>ACA390177973ACTN1c.-23A>T (n.-23A>T)
n.461A>T
c.173A>T (p.Asp58Val)
n.267A>T
c.170A>T (p.Asp57Val)
c.110A>T (p.Asp37Val)
c.104A>T (p.Asp35Val)
c.260A>T (p.Asp87Val)
14g.68925605T>CCA390177974ACTN1c.-23A>G (n.-23A>G)
n.461A>G
c.173A>G (p.Asp58Gly)
n.267A>G
c.170A>G (p.Asp57Gly)
c.110A>G (p.Asp37Gly)
c.104A>G (p.Asp35Gly)
c.260A>G (p.Asp87Gly)
14g.68925605T>GCA390177975ACTN1c.-23A>C (n.-23A>C)
n.461A>C
c.173A>C (p.Asp58Ala)
n.267A>C
c.170A>C (p.Asp57Ala)
c.110A>C (p.Asp37Ala)
c.104A>C (p.Asp35Ala)
c.260A>C (p.Asp87Ala)
14g.68925606C>ACA390177976ACTN1c.-24G>T (n.-24G>T)
n.460G>T
c.172G>T (p.Asp58Tyr)
n.266G>T
c.169G>T (p.Asp57Tyr)
c.109G>T (p.Asp37Tyr)
c.103G>T (p.Asp35Tyr)
c.259G>T (p.Asp87Tyr)
14g.68925606C>GCA390177977ACTN1c.-24G>C (n.-24G>C)
n.460G>C
c.172G>C (p.Asp58His)
n.266G>C
c.169G>C (p.Asp57His)
c.109G>C (p.Asp37His)
c.103G>C (p.Asp35His)
c.259G>C (p.Asp87His)
14g.68925606C>TCA390177978ACTN1c.-24G>A (n.-24G>A)
n.460G>A
c.172G>A (p.Asp58Asn)
n.266G>A
c.169G>A (p.Asp57Asn)
c.109G>A (p.Asp37Asn)
c.103G>A (p.Asp35Asn)
c.259G>A (p.Asp87Asn)
14g.68925607C>ACA390177979ACTN1c.-25G>T (n.-25G>T)
n.459G>T
c.171G>T (p.Glu57Asp)
n.265G>T
c.168G>T (p.Glu56Asp)
c.108G>T (p.Glu36Asp)
c.102G>T (p.Glu34Asp)
c.258G>T (p.Glu86Asp)
14g.68925607C>GCA390177980ACTN1c.-25G>C (n.-25G>C)
n.459G>C
c.171G>C (p.Glu57Asp)
n.265G>C
c.168G>C (p.Glu56Asp)
c.108G>C (p.Glu36Asp)
c.102G>C (p.Glu34Asp)
c.258G>C (p.Glu86Asp)
14g.68925607C>TCA486985219ACTN1c.-25G>A (n.-25G>A)
n.459G>A
c.171G>A (p.Glu57=)
n.265G>A
c.168G>A (p.Glu56=)
c.108G>A (p.Glu36=)
c.102G>A (p.Glu34=)
c.258G>A (p.Glu86=)
14g.68925608T>ACA390177981ACTN1c.-26A>T (n.-26A>T)
n.458A>T
c.170A>T (p.Glu57Val)
n.264A>T
c.167A>T (p.Glu56Val)
c.107A>T (p.Glu36Val)
c.101A>T (p.Glu34Val)
c.257A>T (p.Glu86Val)
14g.68925608T>CCA390177982ACTN1c.-26A>G (n.-26A>G)
n.458A>G
c.170A>G (p.Glu57Gly)
n.264A>G
c.167A>G (p.Glu56Gly)
c.107A>G (p.Glu36Gly)
c.101A>G (p.Glu34Gly)
c.257A>G (p.Glu86Gly)
14g.68925608T>GCA390177983ACTN1c.-26A>C (n.-26A>C)
n.458A>C
c.170A>C (p.Glu57Ala)
n.264A>C
c.167A>C (p.Glu56Ala)
c.107A>C (p.Glu36Ala)
c.101A>C (p.Glu34Ala)
c.257A>C (p.Glu86Ala)
14g.68925609C>ACA390177985ACTN1c.-27G>T (n.-27G>T)
n.457G>T
c.169G>T (p.Glu57Ter)
n.263G>T
c.166G>T (p.Glu56Ter)
c.106G>T (p.Glu36Ter)
c.100G>T (p.Glu34Ter)
c.256G>T (p.Glu86Ter)
14g.68925609C>GCA390177986ACTN1c.-27G>C (n.-27G>C)
n.457G>C
c.169G>C (p.Glu57Gln)
n.263G>C
c.166G>C (p.Glu56Gln)
c.106G>C (p.Glu36Gln)
c.100G>C (p.Glu34Gln)
c.256G>C (p.Glu86Gln)
14g.68925609C>TCA390177984ACTN1c.-27G>A (n.-27G>A)
n.457G>A
c.169G>A (p.Glu57Lys)
n.263G>A
c.166G>A (p.Glu56Lys)
c.106G>A (p.Glu36Lys)
c.100G>A (p.Glu34Lys)
c.256G>A (p.Glu86Lys)
14g.68925610T>ACA390177987ACTN1c.-28A>T (n.-28A>T)
n.456A>T
c.168A>T (p.Glu56Asp)
n.262A>T
c.165A>T (p.Glu55Asp)
c.105A>T (p.Glu35Asp)
c.99A>T (p.Glu33Asp)
c.255A>T (p.Glu85Asp)
14g.68925610T>CCA486985220ACTN1c.-28A>G (n.-28A>G)
n.456A>G
c.168A>G (p.Glu56=)
n.262A>G
c.165A>G (p.Glu55=)
c.105A>G (p.Glu35=)
c.99A>G (p.Glu33=)
c.255A>G (p.Glu85=)
14g.68925610T>GCA390177988ACTN1c.-28A>C (n.-28A>C)
n.456A>C
c.168A>C (p.Glu56Asp)
n.262A>C
c.165A>C (p.Glu55Asp)
c.105A>C (p.Glu35Asp)
c.99A>C (p.Glu33Asp)
c.255A>C (p.Glu85Asp)
14g.68925611T>ACA390177989ACTN1c.-29A>T (n.-29A>T)
n.455A>T
c.167A>T (p.Glu56Val)
n.261A>T
c.164A>T (p.Glu55Val)
c.104A>T (p.Glu35Val)
c.98A>T (p.Glu33Val)
c.254A>T (p.Glu85Val)
14g.68925611T>CCA390177990ACTN1c.-29A>G (n.-29A>G)
n.455A>G
c.167A>G (p.Glu56Gly)
n.261A>G
c.164A>G (p.Glu55Gly)
c.104A>G (p.Glu35Gly)
c.98A>G (p.Glu33Gly)
c.254A>G (p.Glu85Gly)
14g.68925611T>GCA390177991ACTN1c.-29A>C (n.-29A>C)
n.455A>C
c.167A>C (p.Glu56Ala)
n.261A>C
c.164A>C (p.Glu55Ala)
c.104A>C (p.Glu35Ala)
c.98A>C (p.Glu33Ala)
c.254A>C (p.Glu85Ala)
14g.68925612C>ACA390177992ACTN1c.-30G>T (n.-30G>T)
n.454G>T
c.166G>T (p.Glu56Ter)
n.260G>T
c.163G>T (p.Glu55Ter)
c.103G>T (p.Glu35Ter)
c.97G>T (p.Glu33Ter)
c.253G>T (p.Glu85Ter)
14g.68925612C=CA2144526297ACTN1c.-30G= (n.-30G=)
n.454G=
c.166G= (p.Glu56=)
n.260G=
c.163G= (p.Glu55=)
c.103G= (p.Glu35=)
c.97G= (p.Glu33=)
c.253G= (p.Glu85=)
14g.68925612C>GCA390177993ACTN1c.-30G>C (n.-30G>C)
n.454G>C
c.166G>C (p.Glu56Gln)
n.260G>C
c.163G>C (p.Glu55Gln)
c.103G>C (p.Glu35Gln)
c.97G>C (p.Glu33Gln)
c.253G>C (p.Glu85Gln)
14g.68925612C>TCA7242791ACTN1c.-30G>A (n.-30G>A)
n.454G>A
c.166G>A (p.Glu56Lys)
n.260G>A
c.163G>A (p.Glu55Lys)
c.103G>A (p.Glu35Lys)
c.97G>A (p.Glu33Lys)
c.253G>A (p.Glu85Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.68925613G>ACA7242792ACTN1c.-31C>T (n.-31C>T)
n.453C>T
c.165C>T (p.Ile55=)
n.259C>T
c.162C>T (p.Ile54=)
c.102C>T (p.Ile34=)
c.96C>T (p.Ile32=)
c.252C>T (p.Ile84=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.68925613G>CCA7242793ACTN1c.-31C>G (n.-31C>G)
n.453C>G
c.165C>G (p.Ile55Met)
n.259C>G
c.162C>G (p.Ile54Met)
c.102C>G (p.Ile34Met)
c.96C>G (p.Ile32Met)
c.252C>G (p.Ile84Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.68925613G=CA2144526298ACTN1c.-31C= (n.-31C=)
n.453C=
c.165C= (p.Ile55=)
n.259C=
c.162C= (p.Ile54=)
c.102C= (p.Ile34=)
c.96C= (p.Ile32=)
c.252C= (p.Ile84=)
14g.68925613G>TCA486985223ACTN1c.-31C>A (n.-31C>A)
n.453C>A
c.165C>A (p.Ile55=)
n.259C>A
c.162C>A (p.Ile54=)
c.102C>A (p.Ile34=)
c.96C>A (p.Ile32=)
c.252C>A (p.Ile84=)
14g.68925614A>CCA390177994ACTN1c.-32T>G (n.-32T>G)
n.452T>G
c.164T>G (p.Ile55Ser)
n.258T>G
c.161T>G (p.Ile54Ser)
c.101T>G (p.Ile34Ser)
c.95T>G (p.Ile32Ser)
c.251T>G (p.Ile84Ser)
14g.68925614A>GCA390177995ACTN1c.-32T>C (n.-32T>C)
n.452T>C
c.164T>C (p.Ile55Thr)
n.258T>C
c.161T>C (p.Ile54Thr)
c.101T>C (p.Ile34Thr)
c.95T>C (p.Ile32Thr)
c.251T>C (p.Ile84Thr)
14g.68925614A>TCA390177996ACTN1c.-32T>A (n.-32T>A)
n.452T>A
c.164T>A (p.Ile55Asn)
n.258T>A
c.161T>A (p.Ile54Asn)
c.101T>A (p.Ile34Asn)
c.95T>A (p.Ile32Asn)
c.251T>A (p.Ile84Asn)
14g.68925615T>ACA390177997ACTN1c.-33A>T (n.-33A>T)
n.451A>T
c.163A>T (p.Ile55Phe)
n.257A>T
c.160A>T (p.Ile54Phe)
c.100A>T (p.Ile34Phe)
c.94A>T (p.Ile32Phe)
c.250A>T (p.Ile84Phe)
14g.68925615T>CCA390177999ACTN1c.-33A>G (n.-33A>G)
n.451A>G
c.163A>G (p.Ile55Val)
n.257A>G
c.160A>G (p.Ile54Val)
c.100A>G (p.Ile34Val)
c.94A>G (p.Ile32Val)
c.250A>G (p.Ile84Val)
 gnomAD v4
14g.68925615T>GCA390177998ACTN1c.-33A>C (n.-33A>C)
n.451A>C
c.163A>C (p.Ile55Leu)
n.257A>C
c.160A>C (p.Ile54Leu)
c.100A>C (p.Ile34Leu)
c.94A>C (p.Ile32Leu)
c.250A>C (p.Ile84Leu)
14g.68925616G>ACA486985226ACTN1c.-34C>T (n.-34C>T)
n.450C>T
c.162C>T (p.Asn54=)
n.256C>T
c.159C>T (p.Asn53=)
c.99C>T (p.Asn33=)
c.93C>T (p.Asn31=)
c.249C>T (p.Asn83=)
14g.68925616G>CCA390178000ACTN1c.-34C>G (n.-34C>G)
n.450C>G
c.162C>G (p.Asn54Lys)
n.256C>G
c.159C>G (p.Asn53Lys)
c.99C>G (p.Asn33Lys)
c.93C>G (p.Asn31Lys)
c.249C>G (p.Asn83Lys)
14g.68925616G>TCA390178001ACTN1c.-34C>A (n.-34C>A)
n.450C>A
c.162C>A (p.Asn54Lys)
n.256C>A
c.159C>A (p.Asn53Lys)
c.99C>A (p.Asn33Lys)
c.93C>A (p.Asn31Lys)
c.249C>A (p.Asn83Lys)
14g.68925617T>ACA390178002ACTN1c.-35A>T (n.-35A>T)
n.449A>T
c.161A>T (p.Asn54Ile)
n.255A>T
c.158A>T (p.Asn53Ile)
c.98A>T (p.Asn33Ile)
c.92A>T (p.Asn31Ile)
c.248A>T (p.Asn83Ile)
14g.68925617T>CCA390178003ACTN1c.-35A>G (n.-35A>G)
n.449A>G
c.161A>G (p.Asn54Ser)
n.255A>G
c.158A>G (p.Asn53Ser)
c.98A>G (p.Asn33Ser)
c.92A>G (p.Asn31Ser)
c.248A>G (p.Asn83Ser)
14g.68925617T>GCA390178004ACTN1c.-35A>C (n.-35A>C)
n.449A>C
c.161A>C (p.Asn54Thr)
n.255A>C
c.158A>C (p.Asn53Thr)
c.98A>C (p.Asn33Thr)
c.92A>C (p.Asn31Thr)
c.248A>C (p.Asn83Thr)
14g.68925618T>ACA390178005ACTN1c.-36A>T (n.-36A>T)
n.448A>T
c.160A>T (p.Asn54Tyr)
n.254A>T
c.157A>T (p.Asn53Tyr)
c.97A>T (p.Asn33Tyr)
c.91A>T (p.Asn31Tyr)
c.247A>T (p.Asn83Tyr)
14g.68925618T>CCA390178006ACTN1c.-36A>G (n.-36A>G)
n.448A>G
c.160A>G (p.Asn54Asp)
n.254A>G
c.157A>G (p.Asn53Asp)
c.97A>G (p.Asn33Asp)
c.91A>G (p.Asn31Asp)
c.247A>G (p.Asn83Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.68925618T>GCA390178007ACTN1c.-36A>C (n.-36A>C)
n.448A>C
c.160A>C (p.Asn54His)
n.254A>C
c.157A>C (p.Asn53His)
c.97A>C (p.Asn33His)
c.91A>C (p.Asn31His)
c.247A>C (p.Asn83His)
14g.68925618T=CA2144526299ACTN1c.-36A= (n.-36A=)
n.448A=
c.160A= (p.Asn54=)
n.254A=
c.157A= (p.Asn53=)
c.97A= (p.Asn33=)
c.91A= (p.Asn31=)
c.247A= (p.Asn83=)
14g.68925619C>ACA390178008ACTN1c.-37G>T (n.-37G>T)
n.447G>T
c.159G>T (p.Glu53Asp)
n.253G>T
c.156G>T (p.Glu52Asp)
c.96G>T (p.Glu32Asp)
c.90G>T (p.Glu30Asp)
c.246G>T (p.Glu82Asp)
14g.68925619C>GCA390178009ACTN1c.-37G>C (n.-37G>C)
n.447G>C
c.159G>C (p.Glu53Asp)
n.253G>C
c.156G>C (p.Glu52Asp)
c.96G>C (p.Glu32Asp)
c.90G>C (p.Glu30Asp)
c.246G>C (p.Glu82Asp)
14g.68925619C>TCA486985234ACTN1c.-37G>A (n.-37G>A)
n.447G>A
c.159G>A (p.Glu53=)
n.253G>A
c.156G>A (p.Glu52=)
c.96G>A (p.Glu32=)
c.90G>A (p.Glu30=)
c.246G>A (p.Glu82=)
 gnomAD v4
14g.68925620T>ACA390178012ACTN1c.-38A>T (n.-38A>T)
n.446A>T
c.158A>T (p.Glu53Val)
n.252A>T
c.155A>T (p.Glu52Val)
c.95A>T (p.Glu32Val)
c.89A>T (p.Glu30Val)
c.245A>T (p.Glu82Val)
14g.68925620T>CCA390178011ACTN1c.-38A>G (n.-38A>G)
n.446A>G
c.158A>G (p.Glu53Gly)
n.252A>G
c.155A>G (p.Glu52Gly)
c.95A>G (p.Glu32Gly)
c.89A>G (p.Glu30Gly)
c.245A>G (p.Glu82Gly)
 dbSNP gnomAD v2 gnomAD v4
14g.68925620T>GCA390178010ACTN1c.-38A>C (n.-38A>C)
n.446A>C
c.158A>C (p.Glu53Ala)
n.252A>C
c.155A>C (p.Glu52Ala)
c.95A>C (p.Glu32Ala)
c.89A>C (p.Glu30Ala)
c.245A>C (p.Glu82Ala)
14g.68925620T=CA2144526300ACTN1c.-38A= (n.-38A=)
n.446A=
c.158A= (p.Glu53=)
n.252A=
c.155A= (p.Glu52=)
c.95A= (p.Glu32=)
c.89A= (p.Glu30=)
c.245A= (p.Glu82=)
14g.68925621C>ACA390178013ACTN1c.-39G>T (n.-39G>T)
n.445G>T
c.157G>T (p.Glu53Ter)
n.251G>T
c.154G>T (p.Glu52Ter)
c.94G>T (p.Glu32Ter)
c.88G>T (p.Glu30Ter)
c.244G>T (p.Glu82Ter)
14g.68925621C=CA2144526301ACTN1c.-39G= (n.-39G=)
n.445G=
c.157G= (p.Glu53=)
n.251G=
c.154G= (p.Glu52=)
c.94G= (p.Glu32=)
c.88G= (p.Glu30=)
c.244G= (p.Glu82=)
14g.68925621C>GCA390178015ACTN1c.-39G>C (n.-39G>C)
n.445G>C
c.157G>C (p.Glu53Gln)
n.251G>C
c.154G>C (p.Glu52Gln)
c.94G>C (p.Glu32Gln)
c.88G>C (p.Glu30Gln)
c.244G>C (p.Glu82Gln)
14g.68925621C>TCA390178014ACTN1c.-39G>A (n.-39G>A)
n.445G>A
c.157G>A (p.Glu53Lys)
n.251G>A
c.154G>A (p.Glu52Lys)
c.94G>A (p.Glu32Lys)
c.88G>A (p.Glu30Lys)
c.244G>A (p.Glu82Lys)
 dbSNP gnomAD v3 gnomAD v4
14g.68925622G>ACA7242794ACTN1c.-40C>T (n.-40C>T)
n.444C>T
c.156C>T (p.Ile52=)
n.250C>T
c.153C>T (p.Ile51=)
c.93C>T (p.Ile31=)
c.87C>T (p.Ile29=)
c.243C>T (p.Ile81=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.68925622G>CCA262874381ACTN1c.-40C>G (n.-40C>G)
n.444C>G
c.156C>G (p.Ile52Met)
n.250C>G
c.153C>G (p.Ile51Met)
c.93C>G (p.Ile31Met)
c.87C>G (p.Ile29Met)
c.243C>G (p.Ile81Met)
 dbSNP gnomAD v3 gnomAD v4
14g.68925622G=CA2144526302ACTN1c.-40C= (n.-40C=)
n.444C=
c.156C= (p.Ile52=)
n.250C=
c.153C= (p.Ile51=)
c.93C= (p.Ile31=)
c.87C= (p.Ile29=)
c.243C= (p.Ile81=)
14g.68925622G>TCA486985242ACTN1c.-40C>A (n.-40C>A)
n.444C>A
c.156C>A (p.Ile52=)
n.250C>A
c.153C>A (p.Ile51=)
c.93C>A (p.Ile31=)
c.87C>A (p.Ile29=)
c.243C>A (p.Ile81=)
 gnomAD v4
14g.68925623A>CCA390178016ACTN1c.-41T>G (n.-41T>G)
n.443T>G
c.155T>G (p.Ile52Ser)
n.249T>G
c.152T>G (p.Ile51Ser)
c.92T>G (p.Ile31Ser)
c.86T>G (p.Ile29Ser)
c.242T>G (p.Ile81Ser)
14g.68925623A>GCA390178017ACTN1c.-41T>C (n.-41T>C)
n.443T>C
c.155T>C (p.Ile52Thr)
n.249T>C
c.152T>C (p.Ile51Thr)
c.92T>C (p.Ile31Thr)
c.86T>C (p.Ile29Thr)
c.242T>C (p.Ile81Thr)
14g.68925623A>TCA390178018ACTN1c.-41T>A (n.-41T>A)
n.443T>A
c.155T>A (p.Ile52Asn)
n.249T>A
c.152T>A (p.Ile51Asn)
c.92T>A (p.Ile31Asn)
c.86T>A (p.Ile29Asn)
c.242T>A (p.Ile81Asn)
14g.68925624T>ACA390178019ACTN1c.-42A>T (n.-42A>T)
n.442A>T
c.154A>T (p.Ile52Phe)
n.248A>T
c.151A>T (p.Ile51Phe)
c.91A>T (p.Ile31Phe)
c.85A>T (p.Ile29Phe)
c.241A>T (p.Ile81Phe)
14g.68925624T>CCA390178020ACTN1c.-42A>G (n.-42A>G)
n.442A>G
c.154A>G (p.Ile52Val)
n.248A>G
c.151A>G (p.Ile51Val)
c.91A>G (p.Ile31Val)
c.85A>G (p.Ile29Val)
c.241A>G (p.Ile81Val)
14g.68925624T>GCA390178021ACTN1c.-42A>C (n.-42A>C)
n.442A>C
c.154A>C (p.Ile52Leu)
n.248A>C
c.151A>C (p.Ile51Leu)
c.91A>C (p.Ile31Leu)
c.85A>C (p.Ile29Leu)
c.241A>C (p.Ile81Leu)
14g.68925625C>ACA390178022ACTN1c.-43G>T (n.-43G>T)
n.441G>T
c.153G>T (p.Gln51His)
n.247G>T
c.150G>T (p.Gln50His)
c.90G>T (p.Gln30His)
c.84G>T (p.Gln28His)
c.240G>T (p.Gln80His)
14g.68925625C>GCA390178023ACTN1c.-43G>C (n.-43G>C)
n.441G>C
c.153G>C (p.Gln51His)
n.247G>C
c.150G>C (p.Gln50His)
c.90G>C (p.Gln30His)
c.84G>C (p.Gln28His)
c.240G>C (p.Gln80His)
14g.68925625C>TCA486985249ACTN1c.-43G>A (n.-43G>A)
n.441G>A
c.153G>A (p.Gln51=)
n.247G>A
c.150G>A (p.Gln50=)
c.90G>A (p.Gln30=)
c.84G>A (p.Gln28=)
c.240G>A (p.Gln80=)
14g.68925626T>ACA390178024ACTN1c.-44A>T (n.-44A>T)
n.440A>T
c.152A>T (p.Gln51Leu)
n.246A>T
c.149A>T (p.Gln50Leu)
c.89A>T (p.Gln30Leu)
c.83A>T (p.Gln28Leu)
c.239A>T (p.Gln80Leu)
14g.68925626T>CCA390178025ACTN1c.-44A>G (n.-44A>G)
n.440A>G
c.152A>G (p.Gln51Arg)
n.246A>G
c.149A>G (p.Gln50Arg)
c.89A>G (p.Gln30Arg)
c.83A>G (p.Gln28Arg)
c.239A>G (p.Gln80Arg)
 gnomAD v4
14g.68925626T>GCA390178026ACTN1c.-44A>C (n.-44A>C)
n.440A>C
c.152A>C (p.Gln51Pro)
n.246A>C
c.149A>C (p.Gln50Pro)
c.89A>C (p.Gln30Pro)
c.83A>C (p.Gln28Pro)
c.239A>C (p.Gln80Pro)
14g.68925629_68925630delCA2625405070ACTN1c.-45_-44del (n.-45_-44del)
n.439_440del
c.151_152del (p.Gln51AspfsTer24)
n.245_246del
c.151_152del (p.Gln51AspfsTer?)
c.148_149del (p.Gln50AspfsTer?)
c.88_89del (p.Gln30AspfsTer24)
c.82_83del (p.Gln28AspfsTer24)
c.238_239del (p.Gln80AspfsTer24)
 gnomAD v4
14g.68925627G>ACA390178029ACTN1c.-45C>T (n.-45C>T)
n.439C>T
c.151C>T (p.Gln51Ter)
n.245C>T
c.148C>T (p.Gln50Ter)
c.88C>T (p.Gln30Ter)
c.82C>T (p.Gln28Ter)
c.238C>T (p.Gln80Ter)
14g.68925627G>CCA390178027ACTN1c.-45C>G (n.-45C>G)
n.439C>G
c.151C>G (p.Gln51Glu)
n.245C>G
c.148C>G (p.Gln50Glu)
c.88C>G (p.Gln30Glu)
c.82C>G (p.Gln28Glu)
c.238C>G (p.Gln80Glu)
 dbSNP
14g.68925627G=CA2144526303ACTN1c.-45C= (n.-45C=)
n.439C=
c.151C= (p.Gln51=)
n.245C=
c.148C= (p.Gln50=)
c.88C= (p.Gln30=)
c.82C= (p.Gln28=)
c.238C= (p.Gln80=)
14g.68925627G>TCA390178028ACTN1c.-45C>A (n.-45C>A)
n.439C>A
c.151C>A (p.Gln51Lys)
n.245C>A
c.148C>A (p.Gln50Lys)
c.88C>A (p.Gln30Lys)
c.82C>A (p.Gln28Lys)
c.238C>A (p.Gln80Lys)
14g.68925628T>ACA486985254ACTN1c.-46A>T (n.-46A>T)
n.438A>T
c.150A>T (p.Thr50=)
n.244A>T
c.147A>T (p.Thr49=)
c.87A>T (p.Thr29=)
c.81A>T (p.Thr27=)
c.237A>T (p.Thr79=)
14g.68925628T>CCA486985255ACTN1c.-46A>G (n.-46A>G)
n.438A>G
c.150A>G (p.Thr50=)
n.244A>G
c.147A>G (p.Thr49=)
c.87A>G (p.Thr29=)
c.81A>G (p.Thr27=)
c.237A>G (p.Thr79=)
14g.68925628T>GCA486985256ACTN1c.-46A>C (n.-46A>C)
n.438A>C
c.150A>C (p.Thr50=)
n.244A>C
c.147A>C (p.Thr49=)
c.87A>C (p.Thr29=)
c.81A>C (p.Thr27=)
c.237A>C (p.Thr79=)
 dbSNP
14g.68925629G>ACA390178030ACTN1c.-47C>T (n.-47C>T)
n.437C>T
c.149C>T (p.Thr50Ile)
n.243C>T
c.146C>T (p.Thr49Ile)
c.86C>T (p.Thr29Ile)
c.80C>T (p.Thr27Ile)
c.236C>T (p.Thr79Ile)
 dbSNP gnomAD v3 gnomAD v4
14g.68925629G>CCA390178031ACTN1c.-47C>G (n.-47C>G)
n.437C>G
c.149C>G (p.Thr50Arg)
n.243C>G
c.146C>G (p.Thr49Arg)
c.86C>G (p.Thr29Arg)
c.80C>G (p.Thr27Arg)
c.236C>G (p.Thr79Arg)
14g.68925629G=CA2144526304ACTN1c.-47C= (n.-47C=)
n.437C=
c.149C= (p.Thr50=)
n.243C=
c.146C= (p.Thr49=)
c.86C= (p.Thr29=)
c.80C= (p.Thr27=)
c.236C= (p.Thr79=)
14g.68925629G>TCA390178032ACTN1c.-47C>A (n.-47C>A)
n.437C>A
c.149C>A (p.Thr50Lys)
n.243C>A
c.146C>A (p.Thr49Lys)
c.86C>A (p.Thr29Lys)
c.80C>A (p.Thr27Lys)
c.236C>A (p.Thr79Lys)
14g.68925630T>ACA390178033ACTN1c.-48A>T (n.-48A>T)
n.436A>T
c.148A>T (p.Thr50Ser)
n.242A>T
c.145A>T (p.Thr49Ser)
c.85A>T (p.Thr29Ser)
c.79A>T (p.Thr27Ser)
c.235A>T (p.Thr79Ser)
14g.68925630T>CCA390178034ACTN1c.-48A>G (n.-48A>G)
n.436A>G
c.148A>G (p.Thr50Ala)
n.242A>G
c.145A>G (p.Thr49Ala)
c.85A>G (p.Thr29Ala)
c.79A>G (p.Thr27Ala)
c.235A>G (p.Thr79Ala)
14g.68925630T>GCA390178035ACTN1c.-48A>C (n.-48A>C)
n.436A>C
c.148A>C (p.Thr50Pro)
n.242A>C
c.145A>C (p.Thr49Pro)
c.85A>C (p.Thr29Pro)
c.79A>C (p.Thr27Pro)
c.235A>C (p.Thr79Pro)
14g.68925631C>ACA486985260ACTN1c.-49G>T (n.-49G>T)
n.435G>T
c.147G>T (p.Gly49=)
n.241G>T
c.144G>T (p.Gly48=)
c.84G>T (p.Gly28=)
c.78G>T (p.Gly26=)
c.234G>T (p.Gly78=)
14g.68925631C>GCA486985262ACTN1c.-49G>C (n.-49G>C)
n.435G>C
c.147G>C (p.Gly49=)
n.241G>C
c.144G>C (p.Gly48=)
c.84G>C (p.Gly28=)
c.78G>C (p.Gly26=)
c.234G>C (p.Gly78=)
14g.68925631C>TCA486985264ACTN1c.-49G>A (n.-49G>A)
n.435G>A
c.147G>A (p.Gly49=)
n.241G>A
c.144G>A (p.Gly48=)
c.84G>A (p.Gly28=)
c.78G>A (p.Gly26=)
c.234G>A (p.Gly78=)
 ClinVar
14g.68925632C>ACA390178036ACTN1c.-50G>T (n.-50G>T)
n.434G>T
c.146G>T (p.Gly49Val)
n.240G>T
c.143G>T (p.Gly48Val)
c.83G>T (p.Gly28Val)
c.77G>T (p.Gly26Val)
c.233G>T (p.Gly78Val)
14g.68925632C=CA2144526305ACTN1c.-50G= (n.-50G=)
n.434G=
c.146G= (p.Gly49=)
n.240G=
c.143G= (p.Gly48=)
c.83G= (p.Gly28=)
c.77G= (p.Gly26=)
c.233G= (p.Gly78=)
14g.68925632C>GCA390178037ACTN1c.-50G>C (n.-50G>C)
n.434G>C
c.146G>C (p.Gly49Ala)
n.240G>C
c.143G>C (p.Gly48Ala)
c.83G>C (p.Gly28Ala)
c.77G>C (p.Gly26Ala)
c.233G>C (p.Gly78Ala)
 gnomAD v4
14g.68925632C>TCA7242795ACTN1c.-50G>A (n.-50G>A)
n.434G>A
c.146G>A (p.Gly49Glu)
n.240G>A
c.143G>A (p.Gly48Glu)
c.83G>A (p.Gly28Glu)
c.77G>A (p.Gly26Glu)
c.233G>A (p.Gly78Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.68925633C>ACA390178038ACTN1c.-51G>T (n.-51G>T)
n.433G>T
c.145G>T (p.Gly49Trp)
n.239G>T
c.142G>T (p.Gly48Trp)
c.82G>T (p.Gly28Trp)
c.76G>T (p.Gly26Trp)
c.232G>T (p.Gly78Trp)
14g.68925633C>GCA390178039ACTN1c.-51G>C (n.-51G>C)
n.433G>C
c.145G>C (p.Gly49Arg)
n.239G>C
c.142G>C (p.Gly48Arg)
c.82G>C (p.Gly28Arg)
c.76G>C (p.Gly26Arg)
c.232G>C (p.Gly78Arg)
14g.68925633C>TCA390178040ACTN1c.-51G>A (n.-51G>A)
n.433G>A
c.145G>A (p.Gly49Arg)
n.239G>A
c.142G>A (p.Gly48Arg)
c.82G>A (p.Gly28Arg)
c.76G>A (p.Gly26Arg)
c.232G>A (p.Gly78Arg)
14g.68925634C>ACA486985271ACTN1c.-52G>T (n.-52G>T)
n.432G>T
c.144G>T (p.Ala48=)
n.238G>T
c.141G>T (p.Ala47=)
c.81G>T (p.Ala27=)
c.75G>T (p.Ala25=)
c.231G>T (p.Ala77=)
14g.68925634C=CA2144526306ACTN1c.-52G= (n.-52G=)
n.432G=
c.144G= (p.Ala48=)
n.238G=
c.141G= (p.Ala47=)
c.81G= (p.Ala27=)
c.75G= (p.Ala25=)
c.231G= (p.Ala77=)
14g.68925634C>GCA486985273ACTN1c.-52G>C (n.-52G>C)
n.432G>C
c.144G>C (p.Ala48=)
n.238G>C
c.141G>C (p.Ala47=)
c.81G>C (p.Ala27=)
c.75G>C (p.Ala25=)
c.231G>C (p.Ala77=)
14g.68925634C>TCA7242796ACTN1c.-52G>A (n.-52G>A)
n.432G>A
c.144G>A (p.Ala48=)
n.238G>A
c.141G>A (p.Ala47=)
c.81G>A (p.Ala27=)
c.75G>A (p.Ala25=)
c.231G>A (p.Ala77=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.68925635G>ACA7242797ACTN1c.-53C>T (n.-53C>T)
n.431C>T
c.143C>T (p.Ala48Val)
n.237C>T
c.140C>T (p.Ala47Val)
c.80C>T (p.Ala27Val)
c.74C>T (p.Ala25Val)
c.230C>T (p.Ala77Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.68925635G>CCA390178041ACTN1c.-53C>G (n.-53C>G)
n.431C>G
c.143C>G (p.Ala48Gly)
n.237C>G
c.140C>G (p.Ala47Gly)
c.80C>G (p.Ala27Gly)
c.74C>G (p.Ala25Gly)
c.230C>G (p.Ala77Gly)
14g.68925635G=CA2144526307ACTN1c.-53C= (n.-53C=)
n.431C=
c.143C= (p.Ala48=)
n.237C=
c.140C= (p.Ala47=)
c.80C= (p.Ala27=)
c.74C= (p.Ala25=)
c.230C= (p.Ala77=)
14g.68925635G>TCA390178042ACTN1c.-53C>A (n.-53C>A)
n.431C>A
c.143C>A (p.Ala48Glu)
n.237C>A
c.140C>A (p.Ala47Glu)
c.80C>A (p.Ala27Glu)
c.74C>A (p.Ala25Glu)
c.230C>A (p.Ala77Glu)
 dbSNP gnomAD v4
14g.68925636C>ACA390178043ACTN1c.-54G>T (n.-54G>T)
n.430G>T
c.142G>T (p.Ala48Ser)
n.236G>T
c.139G>T (p.Ala47Ser)
c.79G>T (p.Ala27Ser)
c.73G>T (p.Ala25Ser)
c.229G>T (p.Ala77Ser)
14g.68925636C>GCA390178044ACTN1c.-54G>C (n.-54G>C)
n.430G>C
c.142G>C (p.Ala48Pro)
n.236G>C
c.139G>C (p.Ala47Pro)
c.79G>C (p.Ala27Pro)
c.73G>C (p.Ala25Pro)
c.229G>C (p.Ala77Pro)
14g.68925636C>TCA390178045ACTN1c.-54G>A (n.-54G>A)
n.430G>A
c.142G>A (p.Ala48Thr)
n.236G>A
c.139G>A (p.Ala47Thr)
c.79G>A (p.Ala27Thr)
c.73G>A (p.Ala25Thr)
c.229G>A (p.Ala77Thr)
 gnomAD v4
14g.68925637C>ACA390178046ACTN1c.-55G>T (n.-55G>T)
n.429G>T
c.141G>T (p.Lys47Asn)
n.235G>T
c.138G>T (p.Lys46Asn)
c.78G>T (p.Lys26Asn)
c.72G>T (p.Lys24Asn)
c.228G>T (p.Lys76Asn)
14g.68925637C=CA2144526308ACTN1c.-55G= (n.-55G=)
n.429G=
c.141G= (p.Lys47=)
n.235G=
c.138G= (p.Lys46=)
c.78G= (p.Lys26=)
c.72G= (p.Lys24=)
c.228G= (p.Lys76=)
14g.68925637C>GCA390178047ACTN1c.-55G>C (n.-55G>C)
n.429G>C
c.141G>C (p.Lys47Asn)
n.235G>C
c.138G>C (p.Lys46Asn)
c.78G>C (p.Lys26Asn)
c.72G>C (p.Lys24Asn)
c.228G>C (p.Lys76Asn)
14g.68925637C>TCA262874401ACTN1c.-55G>A (n.-55G>A)
n.429G>A
c.141G>A (p.Lys47=)
n.235G>A
c.138G>A (p.Lys46=)
c.78G>A (p.Lys26=)
c.72G>A (p.Lys24=)
c.228G>A (p.Lys76=)
 dbSNP
14g.68925638T>ACA390178048ACTN1c.-56A>T (n.-56A>T)
n.428A>T
c.140A>T (p.Lys47Met)
n.234A>T
c.137A>T (p.Lys46Met)
c.77A>T (p.Lys26Met)
c.71A>T (p.Lys24Met)
c.227A>T (p.Lys76Met)
14g.68925638T>CCA390178049ACTN1c.-56A>G (n.-56A>G)
n.428A>G
c.140A>G (p.Lys47Arg)
n.234A>G
c.137A>G (p.Lys46Arg)
c.77A>G (p.Lys26Arg)
c.71A>G (p.Lys24Arg)
c.227A>G (p.Lys76Arg)
14g.68925638T>GCA390178050ACTN1c.-56A>C (n.-56A>C)
n.428A>C
c.140A>C (p.Lys47Thr)
n.234A>C
c.137A>C (p.Lys46Thr)
c.77A>C (p.Lys26Thr)
c.71A>C (p.Lys24Thr)
c.227A>C (p.Lys76Thr)
14g.68925639T>ACA390178051ACTN1c.-57A>T (n.-57A>T)
n.427A>T
c.139A>T (p.Lys47Ter)
n.233A>T
c.136A>T (p.Lys46Ter)
c.76A>T (p.Lys26Ter)
c.70A>T (p.Lys24Ter)
c.226A>T (p.Lys76Ter)
14g.68925639T>CCA390178052ACTN1c.-57A>G (n.-57A>G)
n.427A>G
c.139A>G (p.Lys47Glu)
n.233A>G
c.136A>G (p.Lys46Glu)
c.76A>G (p.Lys26Glu)
c.70A>G (p.Lys24Glu)
c.226A>G (p.Lys76Glu)
 gnomAD v4
14g.68925639T>GCA390178053ACTN1c.-57A>C (n.-57A>C)
n.427A>C
c.139A>C (p.Lys47Gln)
n.233A>C
c.136A>C (p.Lys46Gln)
c.76A>C (p.Lys26Gln)
c.70A>C (p.Lys24Gln)
c.226A>C (p.Lys76Gln)
14g.68925640C>ACA486985280ACTN1c.-58G>T (n.-58G>T)
n.426G>T
c.138G>T (p.Arg46=)
n.232G>T
c.135G>T (p.Arg45=)
c.75G>T (p.Arg25=)
c.69G>T (p.Arg23=)
c.225G>T (p.Arg75=)
14g.68925640C=CA2144526309ACTN1c.-58G= (n.-58G=)
n.426G=
c.138G= (p.Arg46=)
n.232G=
c.135G= (p.Arg45=)
c.75G= (p.Arg25=)
c.69G= (p.Arg23=)
c.225G= (p.Arg75=)
14g.68925640C>GCA486985281ACTN1c.-58G>C (n.-58G>C)
n.426G>C
c.138G>C (p.Arg46=)
n.232G>C
c.135G>C (p.Arg45=)
c.75G>C (p.Arg25=)
c.69G>C (p.Arg23=)
c.225G>C (p.Arg75=)
14g.68925640C>TCA486985283ACTN1c.-58G>A (n.-58G>A)
n.426G>A
c.138G>A (p.Arg46=)
n.232G>A
c.135G>A (p.Arg45=)
c.75G>A (p.Arg25=)
c.69G>A (p.Arg23=)
c.225G>A (p.Arg75=)
 dbSNP
14g.68925641C>ACA390178054ACTN1c.-59G>T (n.-59G>T)
n.425G>T
c.137G>T (p.Arg46Leu)
n.231G>T
c.134G>T (p.Arg45Leu)
c.74G>T (p.Arg25Leu)
c.68G>T (p.Arg23Leu)
c.224G>T (p.Arg75Leu)
14g.68925641C=CA2144526310ACTN1c.-59G= (n.-59G=)
n.425G=
c.137G= (p.Arg46=)
n.231G=
c.134G= (p.Arg45=)
c.74G= (p.Arg25=)
c.68G= (p.Arg23=)
c.224G= (p.Arg75=)
14g.68925641C>GCA390178055ACTN1c.-59G>C (n.-59G>C)
n.425G>C
c.137G>C (p.Arg46Pro)
n.231G>C
c.134G>C (p.Arg45Pro)
c.74G>C (p.Arg25Pro)
c.68G>C (p.Arg23Pro)
c.224G>C (p.Arg75Pro)
14g.68925641C>TCA130967ACTN1c.-59G>A (n.-59G>A)
n.425G>A
c.137G>A (p.Arg46Gln)
n.231G>A
c.134G>A (p.Arg45Gln)
c.74G>A (p.Arg25Gln)
c.68G>A (p.Arg23Gln)
c.224G>A (p.Arg75Gln)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
14g.68925642G>ACA7242798ACTN1c.-60C>T (n.-60C>T)
n.424C>T
c.136C>T (p.Arg46Trp)
n.230C>T
c.133C>T (p.Arg45Trp)
c.73C>T (p.Arg25Trp)
c.67C>T (p.Arg23Trp)
c.223C>T (p.Arg75Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.68925642G>CCA390178056ACTN1c.-60C>G (n.-60C>G)
n.424C>G
c.136C>G (p.Arg46Gly)
n.230C>G
c.133C>G (p.Arg45Gly)
c.73C>G (p.Arg25Gly)
c.67C>G (p.Arg23Gly)
c.223C>G (p.Arg75Gly)
14g.68925642G=CA2144526311ACTN1c.-60C= (n.-60C=)
n.424C=
c.136C= (p.Arg46=)
n.230C=
c.133C= (p.Arg45=)
c.73C= (p.Arg25=)
c.67C= (p.Arg23=)
c.223C= (p.Arg75=)
14g.68925642G>TCA486985286ACTN1c.-60C>A (n.-60C>A)
n.424C>A
c.136C>A (p.Arg46=)
n.230C>A
c.133C>A (p.Arg45=)
c.73C>A (p.Arg25=)
c.67C>A (p.Arg23=)
c.223C>A (p.Arg75=)
 gnomAD v4
14g.68925643G>ACA486985287ACTN1c.-61C>T (n.-61C>T)
n.423C>T
c.135C>T (p.Leu45=)
n.229C>T
c.132C>T (p.Leu44=)
c.72C>T (p.Leu24=)
c.66C>T (p.Leu22=)
c.222C>T (p.Leu74=)
 gnomAD v4
14g.68925643G>CCA486985288ACTN1c.-61C>G (n.-61C>G)
n.423C>G
c.135C>G (p.Leu45=)
n.229C>G
c.132C>G (p.Leu44=)
c.72C>G (p.Leu24=)
c.66C>G (p.Leu22=)
c.222C>G (p.Leu74=)
14g.68925643G>TCA486985290ACTN1c.-61C>A (n.-61C>A)
n.423C>A
c.135C>A (p.Leu45=)
n.229C>A
c.132C>A (p.Leu44=)
c.72C>A (p.Leu24=)
c.66C>A (p.Leu22=)
c.222C>A (p.Leu74=)
14g.68925644A>CCA390178057ACTN1c.-62T>G (n.-62T>G)
n.422T>G
c.134T>G (p.Leu45Arg)
n.228T>G
c.131T>G (p.Leu44Arg)
c.71T>G (p.Leu24Arg)
c.65T>G (p.Leu22Arg)
c.221T>G (p.Leu74Arg)
14g.68925644A>GCA390178058ACTN1c.-62T>C (n.-62T>C)
n.422T>C
c.134T>C (p.Leu45Pro)
n.228T>C
c.131T>C (p.Leu44Pro)
c.71T>C (p.Leu24Pro)
c.65T>C (p.Leu22Pro)
c.221T>C (p.Leu74Pro)
14g.68925644A>TCA390178059ACTN1c.-62T>A (n.-62T>A)
n.422T>A
c.134T>A (p.Leu45His)
n.228T>A
c.131T>A (p.Leu44His)
c.71T>A (p.Leu24His)
c.65T>A (p.Leu22His)
c.221T>A (p.Leu74His)
14g.68925645G>ACA390178062ACTN1c.-63C>T (n.-63C>T)
n.421C>T
c.133C>T (p.Leu45Phe)
n.227C>T
c.130C>T (p.Leu44Phe)
c.70C>T (p.Leu24Phe)
c.64C>T (p.Leu22Phe)
c.220C>T (p.Leu74Phe)
14g.68925645G>CCA390178060ACTN1c.-63C>G (n.-63C>G)
n.421C>G
c.133C>G (p.Leu45Val)
n.227C>G
c.130C>G (p.Leu44Val)
c.70C>G (p.Leu24Val)
c.64C>G (p.Leu22Val)
c.220C>G (p.Leu74Val)
14g.68925645G>TCA390178061ACTN1c.-63C>A (n.-63C>A)
n.421C>A
c.133C>A (p.Leu45Ile)
n.227C>A
c.130C>A (p.Leu44Ile)
c.70C>A (p.Leu24Ile)
c.64C>A (p.Leu22Ile)
c.220C>A (p.Leu74Ile)
14g.68925646G>ACA486985291ACTN1c.-64C>T (n.-64C>T)
n.420C>T
c.132C>T (p.His44=)
n.226C>T
c.129C>T (p.His43=)
c.69C>T (p.His23=)
c.63C>T (p.His21=)
c.219C>T (p.His73=)
14g.68925646G>CCA390178063ACTN1c.-64C>G (n.-64C>G)
n.420C>G
c.132C>G (p.His44Gln)
n.226C>G
c.129C>G (p.His43Gln)
c.69C>G (p.His23Gln)
c.63C>G (p.His21Gln)
c.219C>G (p.His73Gln)
14g.68925646G>TCA390178064ACTN1c.-64C>A (n.-64C>A)
n.420C>A
c.132C>A (p.His44Gln)
n.226C>A
c.129C>A (p.His43Gln)
c.69C>A (p.His23Gln)
c.63C>A (p.His21Gln)
c.219C>A (p.His73Gln)
14g.68925647T>ACA390178065ACTN1c.-65A>T (n.-65A>T)
n.419A>T
c.131A>T (p.His44Leu)
n.225A>T
c.128A>T (p.His43Leu)
c.68A>T (p.His23Leu)
c.62A>T (p.His21Leu)
c.218A>T (p.His73Leu)
14g.68925647T>CCA390178066ACTN1c.-65A>G (n.-65A>G)
n.419A>G
c.131A>G (p.His44Arg)
n.225A>G
c.128A>G (p.His43Arg)
c.68A>G (p.His23Arg)
c.62A>G (p.His21Arg)
c.218A>G (p.His73Arg)
 gnomAD v4
14g.68925647T>GCA390178067ACTN1c.-65A>C (n.-65A>C)
n.419A>C
c.131A>C (p.His44Pro)
n.225A>C
c.128A>C (p.His43Pro)
c.68A>C (p.His23Pro)
c.62A>C (p.His21Pro)
c.218A>C (p.His73Pro)
14g.68925648G>ACA390178068ACTN1c.-66C>T (n.-66C>T)
n.418C>T
c.130C>T (p.His44Tyr)
n.224C>T
c.127C>T (p.His43Tyr)
c.67C>T (p.His23Tyr)
c.61C>T (p.His21Tyr)
c.217C>T (p.His73Tyr)
 gnomAD v4
14g.68925648G>CCA390178070ACTN1c.-66C>G (n.-66C>G)
n.418C>G
c.130C>G (p.His44Asp)
n.224C>G
c.127C>G (p.His43Asp)
c.67C>G (p.His23Asp)
c.61C>G (p.His21Asp)
c.217C>G (p.His73Asp)
14g.68925648G>TCA390178069ACTN1c.-66C>A (n.-66C>A)
n.418C>A
c.130C>A (p.His44Asn)
n.224C>A
c.127C>A (p.His43Asn)
c.67C>A (p.His23Asn)
c.61C>A (p.His21Asn)
c.217C>A (p.His73Asn)
14g.68925649G>ACA486985293ACTN1c.-67C>T (n.-67C>T)
n.417C>T
c.129C>T (p.Ser43=)
n.223C>T
c.126C>T (p.Ser42=)
c.66C>T (p.Ser22=)
c.60C>T (p.Ser20=)
c.216C>T (p.Ser72=)
14g.68925649G>CCA486985294ACTN1c.-67C>G (n.-67C>G)
n.417C>G
c.129C>G (p.Ser43=)
n.223C>G
c.126C>G (p.Ser42=)
c.66C>G (p.Ser22=)
c.60C>G (p.Ser20=)
c.216C>G (p.Ser72=)
14g.68925649G>TCA486985295ACTN1c.-67C>A (n.-67C>A)
n.417C>A
c.129C>A (p.Ser43=)
n.223C>A
c.126C>A (p.Ser42=)
c.66C>A (p.Ser22=)
c.60C>A (p.Ser20=)
c.216C>A (p.Ser72=)
14g.68925650G>ACA390178071ACTN1c.-68C>T (n.-68C>T)
n.416C>T
c.128C>T (p.Ser43Phe)
n.222C>T
c.125C>T (p.Ser42Phe)
c.65C>T (p.Ser22Phe)
c.59C>T (p.Ser20Phe)
c.215C>T (p.Ser72Phe)
14g.68925650G>CCA390178073ACTN1c.-68C>G (n.-68C>G)
n.416C>G
c.128C>G (p.Ser43Cys)
n.222C>G
c.125C>G (p.Ser42Cys)
c.65C>G (p.Ser22Cys)
c.59C>G (p.Ser20Cys)
c.215C>G (p.Ser72Cys)
14g.68925650G>TCA390178072ACTN1c.-68C>A (n.-68C>A)
n.416C>A
c.128C>A (p.Ser43Tyr)
n.222C>A
c.125C>A (p.Ser42Tyr)
c.65C>A (p.Ser22Tyr)
c.59C>A (p.Ser20Tyr)
c.215C>A (p.Ser72Tyr)
14g.68925651A=CA2144526312ACTN1c.-69T= (n.-69T=)
n.415T=
c.127T= (p.Ser43=)
n.221T=
c.124T= (p.Ser42=)
c.64T= (p.Ser22=)
c.58T= (p.Ser20=)
c.214T= (p.Ser72=)
14g.68925651A>CCA7242799ACTN1c.-69T>G (n.-69T>G)
n.415T>G
c.127T>G (p.Ser43Ala)
n.221T>G
c.124T>G (p.Ser42Ala)
c.64T>G (p.Ser22Ala)
c.58T>G (p.Ser20Ala)
c.214T>G (p.Ser72Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.68925651A>GCA390178074ACTN1c.-69T>C (n.-69T>C)
n.415T>C
c.127T>C (p.Ser43Pro)
n.221T>C
c.124T>C (p.Ser42Pro)
c.64T>C (p.Ser22Pro)
c.58T>C (p.Ser20Pro)
c.214T>C (p.Ser72Pro)
14g.68925651A>TCA390178075ACTN1c.-69T>A (n.-69T>A)
n.415T>A
c.127T>A (p.Ser43Thr)
n.221T>A
c.124T>A (p.Ser42Thr)
c.64T>A (p.Ser22Thr)
c.58T>A (p.Ser20Thr)
c.214T>A (p.Ser72Thr)
 ClinVar dbSNP gnomAD v4
14g.68925652G>ACA486985297ACTN1c.-70C>T (n.-70C>T)
n.414C>T
c.126C>T (p.Asn42=)
n.220C>T
c.123C>T (p.Asn41=)
c.63C>T (p.Asn21=)
c.57C>T (p.Asn19=)
c.213C>T (p.Asn71=)
 gnomAD v4
14g.68925652G>CCA390178076ACTN1c.-70C>G (n.-70C>G)
n.414C>G
c.126C>G (p.Asn42Lys)
n.220C>G
c.123C>G (p.Asn41Lys)
c.63C>G (p.Asn21Lys)
c.57C>G (p.Asn19Lys)
c.213C>G (p.Asn71Lys)
14g.68925652G>TCA390178077ACTN1c.-70C>A (n.-70C>A)
n.414C>A
c.126C>A (p.Asn42Lys)
n.220C>A
c.123C>A (p.Asn41Lys)
c.63C>A (p.Asn21Lys)
c.57C>A (p.Asn19Lys)
c.213C>A (p.Asn71Lys)
14g.68925653T>ACA390178078ACTN1c.-71A>T (n.-71A>T)
n.413A>T
c.125A>T (p.Asn42Ile)
n.219A>T
c.122A>T (p.Asn41Ile)
c.62A>T (p.Asn21Ile)
c.56A>T (p.Asn19Ile)
c.212A>T (p.Asn71Ile)
14g.68925653T>CCA390178079ACTN1c.-71A>G (n.-71A>G)
n.413A>G
c.125A>G (p.Asn42Ser)
n.219A>G
c.122A>G (p.Asn41Ser)
c.62A>G (p.Asn21Ser)
c.56A>G (p.Asn19Ser)
c.212A>G (p.Asn71Ser)
14g.68925653T>GCA390178080ACTN1c.-71A>C (n.-71A>C)
n.413A>C
c.125A>C (p.Asn42Thr)
n.219A>C
c.122A>C (p.Asn41Thr)
c.62A>C (p.Asn21Thr)
c.56A>C (p.Asn19Thr)
c.212A>C (p.Asn71Thr)
14g.68925654T>ACA390178081ACTN1c.-72A>T (n.-72A>T)
n.412A>T
c.124A>T (p.Asn42Tyr)
n.218A>T
c.121A>T (p.Asn41Tyr)
c.61A>T (p.Asn21Tyr)
c.55A>T (p.Asn19Tyr)
c.211A>T (p.Asn71Tyr)
14g.68925654T>CCA390178082ACTN1c.-72A>G (n.-72A>G)
n.412A>G
c.124A>G (p.Asn42Asp)
n.218A>G
c.121A>G (p.Asn41Asp)
c.61A>G (p.Asn21Asp)
c.55A>G (p.Asn19Asp)
c.211A>G (p.Asn71Asp)
14g.68925654T>GCA390178083ACTN1c.-72A>C (n.-72A>C)
n.412A>C
c.124A>C (p.Asn42His)
n.218A>C
c.121A>C (p.Asn41His)
c.61A>C (p.Asn21His)
c.55A>C (p.Asn19His)
c.211A>C (p.Asn71His)
14g.68925655A>CCA390178084ACTN1c.-73T>G (n.-73T>G)
n.411T>G
c.123T>G (p.Cys41Trp)
n.217T>G
c.120T>G (p.Cys40Trp)
c.60T>G (p.Cys20Trp)
c.54T>G (p.Cys18Trp)
c.210T>G (p.Cys70Trp)
14g.68925655A>GCA486985300ACTN1c.-73T>C (n.-73T>C)
n.411T>C
c.123T>C (p.Cys41=)
n.217T>C
c.120T>C (p.Cys40=)
c.60T>C (p.Cys20=)
c.54T>C (p.Cys18=)
c.210T>C (p.Cys70=)
 COSMIC COSMIC
14g.68925655A>TCA390178085ACTN1c.-73T>A (n.-73T>A)
n.411T>A
c.123T>A (p.Cys41Ter)
n.217T>A
c.120T>A (p.Cys40Ter)
c.60T>A (p.Cys20Ter)
c.54T>A (p.Cys18Ter)
c.210T>A (p.Cys70Ter)
14g.68925656C>ACA390178086ACTN1c.-74G>T (n.-74G>T)
n.410G>T
c.122G>T (p.Cys41Phe)
n.216G>T
c.119G>T (p.Cys40Phe)
c.59G>T (p.Cys20Phe)
c.53G>T (p.Cys18Phe)
c.209G>T (p.Cys70Phe)
14g.68925656C>GCA390178088ACTN1c.-74G>C (n.-74G>C)
n.410G>C
c.122G>C (p.Cys41Ser)
n.216G>C
c.119G>C (p.Cys40Ser)
c.59G>C (p.Cys20Ser)
c.53G>C (p.Cys18Ser)
c.209G>C (p.Cys70Ser)
14g.68925656C>TCA390178087ACTN1c.-74G>A (n.-74G>A)
n.410G>A
c.122G>A (p.Cys41Tyr)
n.216G>A
c.119G>A (p.Cys40Tyr)
c.59G>A (p.Cys20Tyr)
c.53G>A (p.Cys18Tyr)
c.209G>A (p.Cys70Tyr)
 gnomAD v4
14g.68925657A>CCA390178089ACTN1c.-75T>G (n.-75T>G)
n.409T>G
c.121T>G (p.Cys41Gly)
n.215T>G
c.118T>G (p.Cys40Gly)
c.58T>G (p.Cys20Gly)
c.52T>G (p.Cys18Gly)
c.208T>G (p.Cys70Gly)
14g.68925657A>GCA390178090ACTN1c.-75T>C (n.-75T>C)
n.409T>C
c.121T>C (p.Cys41Arg)
n.215T>C
c.118T>C (p.Cys40Arg)
c.58T>C (p.Cys20Arg)
c.52T>C (p.Cys18Arg)
c.208T>C (p.Cys70Arg)
14g.68925657A>TCA390178091ACTN1c.-75T>A (n.-75T>A)
n.409T>A
c.121T>A (p.Cys41Ser)
n.215T>A
c.118T>A (p.Cys40Ser)
c.58T>A (p.Cys20Ser)
c.52T>A (p.Cys18Ser)
c.208T>A (p.Cys70Ser)
14g.68925658C>ACA390178092ACTN1c.-76G>T (n.-76G>T)
n.408G>T
c.120G>T (p.Trp40Cys)
n.214G>T
c.117G>T (p.Trp39Cys)
c.57G>T (p.Trp19Cys)
c.51G>T (p.Trp17Cys)
c.207G>T (p.Trp69Cys)
14g.68925658C>GCA390178093ACTN1c.-76G>C (n.-76G>C)
n.408G>C
c.120G>C (p.Trp40Cys)
n.214G>C
c.117G>C (p.Trp39Cys)
c.57G>C (p.Trp19Cys)
c.51G>C (p.Trp17Cys)
c.207G>C (p.Trp69Cys)
14g.68925658C>TCA390178094ACTN1c.-76G>A (n.-76G>A)
n.408G>A
c.120G>A (p.Trp40Ter)
n.214G>A
c.117G>A (p.Trp39Ter)
c.57G>A (p.Trp19Ter)
c.51G>A (p.Trp17Ter)
c.207G>A (p.Trp69Ter)
14g.68925659C>ACA390178095ACTN1c.-77G>T (n.-77G>T)
n.407G>T
c.119G>T (p.Trp40Leu)
n.213G>T
c.116G>T (p.Trp39Leu)
c.56G>T (p.Trp19Leu)
c.50G>T (p.Trp17Leu)
c.206G>T (p.Trp69Leu)
14g.68925659C>GCA390178096ACTN1c.-77G>C (n.-77G>C)
n.407G>C
c.119G>C (p.Trp40Ser)
n.213G>C
c.116G>C (p.Trp39Ser)
c.56G>C (p.Trp19Ser)
c.50G>C (p.Trp17Ser)
c.206G>C (p.Trp69Ser)
14g.68925659C>TCA390178097ACTN1c.-77G>A (n.-77G>A)
n.407G>A
c.119G>A (p.Trp40Ter)
n.213G>A
c.116G>A (p.Trp39Ter)
c.56G>A (p.Trp19Ter)
c.50G>A (p.Trp17Ter)
c.206G>A (p.Trp69Ter)
14g.68925660A>CCA390178100ACTN1c.-78T>G (n.-78T>G)
n.406T>G
c.118T>G (p.Trp40Gly)
n.212T>G
c.115T>G (p.Trp39Gly)
c.55T>G (p.Trp19Gly)
c.49T>G (p.Trp17Gly)
c.205T>G (p.Trp69Gly)
14g.68925660A>GCA390178099ACTN1c.-78T>C (n.-78T>C)
n.406T>C
c.118T>C (p.Trp40Arg)
n.212T>C
c.115T>C (p.Trp39Arg)
c.55T>C (p.Trp19Arg)
c.49T>C (p.Trp17Arg)
c.205T>C (p.Trp69Arg)
14g.68925660A>TCA390178098ACTN1c.-78T>A (n.-78T>A)
n.406T>A
c.118T>A (p.Trp40Arg)
n.212T>A
c.115T>A (p.Trp39Arg)
c.55T>A (p.Trp19Arg)
c.49T>A (p.Trp17Arg)
c.205T>A (p.Trp69Arg)
14g.68925661T>ACA7242801ACTN1c.-79A>T (n.-79A>T)
n.405A>T
c.117A>T (p.Ala39=)
n.211A>T
c.114A>T (p.Ala38=)
c.54A>T (p.Ala18=)
c.48A>T (p.Ala16=)
c.204A>T (p.Ala68=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.68925661T>CCA7242800ACTN1c.-79A>G (n.-79A>G)
n.405A>G
c.117A>G (p.Ala39=)
n.211A>G
c.114A>G (p.Ala38=)
c.54A>G (p.Ala18=)
c.48A>G (p.Ala16=)
c.204A>G (p.Ala68=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.68925661T>GCA486985306ACTN1c.-79A>C (n.-79A>C)
n.405A>C
c.117A>C (p.Ala39=)
n.211A>C
c.114A>C (p.Ala38=)
c.54A>C (p.Ala18=)
c.48A>C (p.Ala16=)
c.204A>C (p.Ala68=)
14g.68925661T=CA2144526313ACTN1c.-79A= (n.-79A=)
n.405A=
c.117A= (p.Ala39=)
n.211A=
c.114A= (p.Ala38=)
c.54A= (p.Ala18=)
c.48A= (p.Ala16=)
c.204A= (p.Ala68=)
14g.68925662G>ACA390178101ACTN1c.-80C>T (n.-80C>T)
n.404C>T
c.116C>T (p.Ala39Val)
n.210C>T
c.113C>T (p.Ala38Val)
c.53C>T (p.Ala18Val)
c.47C>T (p.Ala16Val)
c.203C>T (p.Ala68Val)
14g.68925662G>CCA390178102ACTN1c.-80C>G (n.-80C>G)
n.404C>G
c.116C>G (p.Ala39Gly)
n.210C>G
c.113C>G (p.Ala38Gly)
c.53C>G (p.Ala18Gly)
c.47C>G (p.Ala16Gly)
c.203C>G (p.Ala68Gly)
14g.68925662G>TCA390178103ACTN1c.-80C>A (n.-80C>A)
n.404C>A
c.116C>A (p.Ala39Glu)
n.210C>A
c.113C>A (p.Ala38Glu)
c.53C>A (p.Ala18Glu)
c.47C>A (p.Ala16Glu)
c.203C>A (p.Ala68Glu)
14g.68925663C>ACA390178106ACTN1c.-81G>T (n.-81G>T)
n.403G>T
c.115G>T (p.Ala39Ser)
n.209G>T
c.112G>T (p.Ala38Ser)
c.52G>T (p.Ala18Ser)
c.46G>T (p.Ala16Ser)
c.202G>T (p.Ala68Ser)
14g.68925663C>GCA390178105ACTN1c.-81G>C (n.-81G>C)
n.403G>C
c.115G>C (p.Ala39Pro)
n.209G>C
c.112G>C (p.Ala38Pro)
c.52G>C (p.Ala18Pro)
c.46G>C (p.Ala16Pro)
c.202G>C (p.Ala68Pro)
14g.68925663C>TCA390178104ACTN1c.-81G>A (n.-81G>A)
n.403G>A
c.115G>A (p.Ala39Thr)
n.209G>A
c.112G>A (p.Ala38Thr)
c.52G>A (p.Ala18Thr)
c.46G>A (p.Ala16Thr)
c.202G>A (p.Ala68Thr)

Number of alleles fetched