Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.68925552_68925560del | CA2625405067 | ACTN1 | c.24_25+7del n.507_508+7del c.219_220+7del n.313_314+7del c.156_157+7del c.150_151+7del c.306_307+7del | gnomAD v4 |
14 | g.68925558C>A | CA390177876 | ACTN1 | c.25G>T (p.Gly9Cys) n.508G>T c.220G>T (p.Gly74Cys) n.314G>T c.220G>T (p.Glu74Ter) c.157G>T (p.Gly53Cys) c.151G>T (p.Gly51Cys) c.307G>T (p.Gly103Cys) | gnomAD v4 |
14 | g.68925558C>G | CA390177877 | ACTN1 | c.25G>C (p.Gly9Arg) n.508G>C c.220G>C (p.Gly74Arg) n.314G>C c.220G>C (p.Glu74Gln) c.157G>C (p.Gly53Arg) c.151G>C (p.Gly51Arg) c.307G>C (p.Gly103Arg) | |
14 | g.68925558C>T | CA390177875 | ACTN1 | c.25G>A (p.Gly9Ser) n.508G>A c.220G>A (p.Gly74Ser) n.314G>A c.220G>A (p.Glu74Lys) c.157G>A (p.Gly53Ser) c.151G>A (p.Gly51Ser) c.307G>A (p.Gly103Ser) | |
14 | g.68925559T>A | CA486985085 | ACTN1 | c.24A>T (p.Ser8=) n.507A>T c.219A>T (p.Ser73=) n.313A>T c.216A>T (p.Ser72=) c.156A>T (p.Ser52=) c.150A>T (p.Ser50=) c.306A>T (p.Ser102=) | |
14 | g.68925559T>C | CA486985087 | ACTN1 | c.24A>G (p.Ser8=) n.507A>G c.219A>G (p.Ser73=) n.313A>G c.216A>G (p.Ser72=) c.156A>G (p.Ser52=) c.150A>G (p.Ser50=) c.306A>G (p.Ser102=) | gnomAD v4 |
14 | g.68925559T>G | CA486985090 | ACTN1 | c.24A>C (p.Ser8=) n.507A>C c.219A>C (p.Ser73=) n.313A>C c.216A>C (p.Ser72=) c.156A>C (p.Ser52=) c.150A>C (p.Ser50=) c.306A>C (p.Ser102=) | |
14 | g.68925560G>A | CA390177878 | ACTN1 | c.23C>T (p.Ser8Leu) n.506C>T c.218C>T (p.Ser73Leu) n.312C>T c.215C>T (p.Ser72Leu) c.155C>T (p.Ser52Leu) c.149C>T (p.Ser50Leu) c.305C>T (p.Ser102Leu) | gnomAD v4 |
14 | g.68925560G>C | CA390177879 | ACTN1 | c.23C>G (p.Ser8Ter) n.506C>G c.218C>G (p.Ser73Ter) n.312C>G c.215C>G (p.Ser72Ter) c.155C>G (p.Ser52Ter) c.149C>G (p.Ser50Ter) c.305C>G (p.Ser102Ter) | |
14 | g.68925560G>T | CA390177880 | ACTN1 | c.23C>A (p.Ser8Ter) n.506C>A c.218C>A (p.Ser73Ter) n.312C>A c.215C>A (p.Ser72Ter) c.155C>A (p.Ser52Ter) c.149C>A (p.Ser50Ter) c.305C>A (p.Ser102Ter) | |
14 | g.68925561A>C | CA390177881 | ACTN1 | c.22T>G (p.Ser8Ala) n.505T>G c.217T>G (p.Ser73Ala) n.311T>G c.214T>G (p.Ser72Ala) c.154T>G (p.Ser52Ala) c.148T>G (p.Ser50Ala) c.304T>G (p.Ser102Ala) | |
14 | g.68925561A>G | CA390177882 | ACTN1 | c.22T>C (p.Ser8Pro) n.505T>C c.217T>C (p.Ser73Pro) n.311T>C c.214T>C (p.Ser72Pro) c.154T>C (p.Ser52Pro) c.148T>C (p.Ser50Pro) c.304T>C (p.Ser102Pro) | gnomAD v4 |
14 | g.68925561A>T | CA390177883 | ACTN1 | c.22T>A (p.Ser8Thr) n.505T>A c.217T>A (p.Ser73Thr) n.311T>A c.214T>A (p.Ser72Thr) c.154T>A (p.Ser52Thr) c.148T>A (p.Ser50Thr) c.304T>A (p.Ser102Thr) | |
14 | g.68925562G>A | CA486985100 | ACTN1 | c.21C>T (p.Ile7=) n.504C>T c.216C>T (p.Ile72=) n.310C>T c.213C>T (p.Ile71=) c.153C>T (p.Ile51=) c.147C>T (p.Ile49=) c.303C>T (p.Ile101=) | |
14 | g.68925562G>C | CA390177884 | ACTN1 | c.21C>G (p.Ile7Met) n.504C>G c.216C>G (p.Ile72Met) n.310C>G c.213C>G (p.Ile71Met) c.153C>G (p.Ile51Met) c.147C>G (p.Ile49Met) c.303C>G (p.Ile101Met) | |
14 | g.68925562G>T | CA486985104 | ACTN1 | c.21C>A (p.Ile7=) n.504C>A c.216C>A (p.Ile72=) n.310C>A c.213C>A (p.Ile71=) c.153C>A (p.Ile51=) c.147C>A (p.Ile49=) c.303C>A (p.Ile101=) | |
14 | g.68925563A>C | CA390177885 | ACTN1 | c.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) | |
14 | g.68925563A>G | CA390177886 | ACTN1 | c.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) | |
14 | g.68925563A>T | CA390177887 | ACTN1 | c.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) | |
14 | g.68925564T>A | CA390177888 | ACTN1 | c.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) | |
14 | g.68925564T>C | CA390177889 | ACTN1 | c.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) | |
14 | g.68925564T>G | CA390177890 | ACTN1 | c.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 |
14 | g.68925565G>A | CA486985113 | ACTN1 | c.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=) | |
14 | g.68925565G>C | CA486985115 | ACTN1 | c.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=) | |
14 | g.68925565G>T | CA486985116 | ACTN1 | c.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=) | |
14 | g.68925566A>C | CA390177891 | ACTN1 | c.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) | |
14 | g.68925566A>G | CA390177893 | ACTN1 | c.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) | |
14 | g.68925566A>T | CA390177892 | ACTN1 | c.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) | |
14 | g.68925567C>A | CA390177894 | ACTN1 | c.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 |
14 | g.68925567C>G | CA390177896 | ACTN1 | c.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) | |
14 | g.68925567C>T | CA390177895 | ACTN1 | c.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) | |
14 | g.68925567_68925568del | CA2802007148 | ACTN1 | c.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) | |
14 | g.68925568C>A | CA390177897 | ACTN1 | c.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 |
14 | g.68925568C>G | CA390177898 | ACTN1 | c.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) | |
14 | g.68925568C>T | CA486985127 | ACTN1 | c.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=) | |
14 | g.68925569T>A | CA390177899 | ACTN1 | c.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) | |
14 | g.68925569T>C | CA390177901 | ACTN1 | c.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) | |
14 | g.68925569T>G | CA390177900 | ACTN1 | c.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) | |
14 | g.68925569dup | CA2842875682 | ACTN1 | c.14dup (p.Val6GlyfsTer5) n.497dup c.209dup (p.Val71GlyfsTer5) n.303dup c.209dup (p.Val71GlyfsTer?) c.206dup (p.Val70GlyfsTer?) c.146dup (p.Val50GlyfsTer5) c.140dup (p.Val48GlyfsTer5) c.296dup (p.Val100GlyfsTer5) | |
14 | g.68925570C>A | CA390177902 | ACTN1 | c.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) | |
14 | g.68925570C>G | CA390177903 | ACTN1 | c.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) | |
14 | g.68925570C>T | CA390177904 | ACTN1 | c.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) | |
14 | g.68925571del | CA2802007149 | ACTN1 | c.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) | |
14 | g.68925571C>A | CA486985138 | ACTN1 | c.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 |
14 | g.68925571C= | CA2144526282 | ACTN1 | c.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=) | |
14 | g.68925571C>G | CA486985140 | ACTN1 | c.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=) | |
14 | g.68925571C>T | CA486985136 | ACTN1 | c.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 |
14 | g.68925579_68925581del | CA2625405069 | ACTN1 | c.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 |
14 | g.68925572A>C | CA390177905 | ACTN1 | c.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) | |
14 | g.68925572A>G | CA390177906 | ACTN1 | c.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) | |
14 | g.68925572A>T | CA390177907 | ACTN1 | c.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) | |
14 | g.68925573G>A | CA7242787 | ACTN1 | c.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 |
14 | g.68925573G>C | CA390177908 | ACTN1 | c.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) | |
14 | g.68925573G= | CA2144526283 | ACTN1 | c.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=) | |
14 | g.68925573G>T | CA390177909 | ACTN1 | c.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) | |
14 | g.68925574C>A | CA486985153 | ACTN1 | c.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=) | |
14 | g.68925574C= | CA2144526284 | ACTN1 | c.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=) | |
14 | g.68925574C>G | CA486985150 | ACTN1 | c.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 |
14 | g.68925574C>T | CA486985152 | ACTN1 | c.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 |
14 | g.68925575A= | CA2144526285 | ACTN1 | c.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=) | |
14 | g.68925575A>C | CA390177910 | ACTN1 | c.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) | |
14 | g.68925575A>G | CA7242788 | ACTN1 | c.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 |
14 | g.68925575A>T | CA390177911 | ACTN1 | c.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) | |
14 | g.68925576G>A | CA486985160 | ACTN1 | c.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=) | |
14 | g.68925576G>C | CA390177913 | ACTN1 | c.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) | |
14 | g.68925576G= | CA2144526286 | ACTN1 | c.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=) | |
14 | g.68925576G>T | CA390177912 | ACTN1 | c.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 |
14 | g.68925577C>A | CA486985163 | ACTN1 | c.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=) | |
14 | g.68925577C>G | CA486985167 | ACTN1 | c.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=) | |
14 | g.68925577C>T | CA486985165 | ACTN1 | c.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=) | |
14 | g.68925578A>C | CA390177914 | ACTN1 | c.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) | |
14 | g.68925578A>G | CA390177915 | ACTN1 | c.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) | |
14 | g.68925578A>T | CA390177916 | ACTN1 | c.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) | |
14 | g.68925579G>A | CA486985172 | ACTN1 | c.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=) | |
14 | g.68925579G>C | CA390177917 | ACTN1 | c.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 |
14 | g.68925579G= | CA2144526287 | ACTN1 | c.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=) | |
14 | g.68925579G>T | CA390177918 | ACTN1 | c.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) | |
14 | g.68925580C>A | CA390177919 | ACTN1 | c.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) | |
14 | g.68925580C>G | CA390177920 | ACTN1 | c.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) | |
14 | g.68925580C>T | CA390177921 | ACTN1 | c.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) | |
14 | g.68925581A>C | CA390177922 | ACTN1 | c.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) | |
14 | g.68925581A>G | CA390177923 | ACTN1 | c.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) | |
14 | g.68925581A>T | CA390177924 | ACTN1 | c.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) | |
14 | g.68925582T>A | CA390177927 | ACTN1 | c.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) | |
14 | g.68925582T>C | CA390177926 | ACTN1 | c.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 |
14 | g.68925582T>G | CA390177925 | ACTN1 | c.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 |
14 | g.68925582T= | CA2144526288 | ACTN1 | c.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=) | |
14 | g.68925583G>A | CA486985183 | ACTN1 | c.-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 |
14 | g.68925583G>C | CA486985184 | ACTN1 | c.-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=) | |
14 | g.68925583G= | CA2144526289 | ACTN1 | c.-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=) | |
14 | g.68925583G>T | CA486985185 | ACTN1 | c.-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=) | |
14 | g.68925584A>C | CA390177928 | ACTN1 | c.-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) | |
14 | g.68925584A>G | CA390177929 | ACTN1 | c.-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) | |
14 | g.68925584A>T | CA390177930 | ACTN1 | c.-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) | |
14 | g.68925585G>A | CA390177931 | ACTN1 | c.-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) | |
14 | g.68925585G>C | CA390177932 | ACTN1 | c.-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) | |
14 | g.68925585G>T | CA390177933 | ACTN1 | c.-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) | |
14 | g.68925586C>A | CA390177935 | ACTN1 | c.-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 |
14 | g.68925586C>G | CA390177934 | ACTN1 | c.-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) | |
14 | g.68925586C>T | CA486985188 | ACTN1 | c.-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=) | |
14 | g.68925587T>A | CA390177936 | ACTN1 | c.-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) | |
14 | g.68925587T>C | CA390177937 | ACTN1 | c.-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) | |
14 | g.68925587T>G | CA390177938 | ACTN1 | c.-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) | |
14 | g.68925588T>A | CA390177939 | ACTN1 | c.-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) | |
14 | g.68925588T>C | CA390177940 | ACTN1 | c.-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) | |
14 | g.68925588T>G | CA390177941 | ACTN1 | c.-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) | |
14 | g.68925589C>A | CA486985192 | ACTN1 | c.-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=) | |
14 | g.68925589C>G | CA486985193 | ACTN1 | c.-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=) | |
14 | g.68925589C>T | CA486985194 | ACTN1 | c.-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=) | |
14 | g.68925590A= | CA2144526290 | ACTN1 | c.-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=) | |
14 | g.68925590A>C | CA390177942 | ACTN1 | c.-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) | |
14 | g.68925590A>G | CA390177944 | ACTN1 | c.-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 |
14 | g.68925590A>T | CA390177943 | ACTN1 | c.-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) | |
14 | g.68925591G>A | CA486985195 | ACTN1 | c.-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=) | |
14 | g.68925591G>C | CA390177945 | ACTN1 | c.-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) | |
14 | g.68925591G>T | CA390177946 | ACTN1 | c.-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) | |
14 | g.68925592G>A | CA486985198 | ACTN1 | c.-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 |
14 | g.68925592G>C | CA486985197 | ACTN1 | c.-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=) | |
14 | g.68925592G= | CA2144526291 | ACTN1 | c.-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=) | |
14 | g.68925592G>T | CA486985196 | ACTN1 | c.-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=) | |
14 | g.68925593C>A | CA390177947 | ACTN1 | c.-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) | |
14 | g.68925593C>G | CA390177948 | ACTN1 | c.-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) | |
14 | g.68925593C>T | CA390177949 | ACTN1 | c.-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) | |
14 | g.68925594C>A | CA390177950 | ACTN1 | c.-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) | |
14 | g.68925594C>G | CA390177951 | ACTN1 | c.-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) | |
14 | g.68925594C>T | CA390177952 | ACTN1 | c.-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) | |
14 | g.68925595A>C | CA390177953 | ACTN1 | c.-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) | |
14 | g.68925595A>G | CA486985201 | ACTN1 | c.-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=) | |
14 | g.68925595A>T | CA390177954 | ACTN1 | c.-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) | |
14 | g.68925596T>A | CA390177957 | ACTN1 | c.-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 |
14 | g.68925596T>C | CA390177956 | ACTN1 | c.-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) | |
14 | g.68925596T>G | CA390177955 | ACTN1 | c.-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 |
14 | g.68925596T= | CA2144526292 | ACTN1 | c.-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=) | |
14 | g.68925597C>A | CA390177958 | ACTN1 | c.-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) | |
14 | g.68925597C>G | CA390177959 | ACTN1 | c.-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) | |
14 | g.68925597C>T | CA390177960 | ACTN1 | c.-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) | |
14 | g.68925598C>A | CA486985207 | ACTN1 | c.-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=) | |
14 | g.68925598C>G | CA486985205 | ACTN1 | c.-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=) | |
14 | g.68925598C>T | CA486985206 | ACTN1 | c.-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=) | |
14 | g.68925599C>A | CA390177961 | ACTN1 | c.-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) | |
14 | g.68925599C= | CA2144526293 | ACTN1 | c.-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=) | |
14 | g.68925599C>G | CA390177962 | ACTN1 | c.-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) | |
14 | g.68925599C>T | CA7242789 | ACTN1 | c.-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 |
14 | g.68925600G>A | CA262874364 | ACTN1 | c.-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 |
14 | g.68925600G>C | CA390177963 | ACTN1 | c.-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) | |
14 | g.68925600G= | CA2144526294 | ACTN1 | c.-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=) | |
14 | g.68925600G>T | CA486985209 | ACTN1 | c.-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=) | |
14 | g.68925601G>A | CA486985210 | ACTN1 | c.-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=) | |
14 | g.68925601G>C | CA390177964 | ACTN1 | c.-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 |
14 | g.68925601G= | CA2144526295 | ACTN1 | c.-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=) | |
14 | g.68925601G>T | CA390177965 | ACTN1 | c.-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 |
14 | g.68925602A= | CA2144526296 | ACTN1 | c.-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=) | |
14 | g.68925602A>C | CA390177966 | ACTN1 | c.-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 |
14 | g.68925602A>G | CA390177967 | ACTN1 | c.-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) | |
14 | g.68925602A>T | CA7242790 | ACTN1 | c.-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 |
14 | g.68925603A>C | CA390177970 | ACTN1 | c.-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) | |
14 | g.68925603A>G | CA390177969 | ACTN1 | c.-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) | |
14 | g.68925603A>T | CA390177968 | ACTN1 | c.-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) | |
14 | g.68925604G>A | CA486985215 | ACTN1 | c.-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=) | |
14 | g.68925604G>C | CA390177971 | ACTN1 | c.-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) | |
14 | g.68925604G>T | CA390177972 | ACTN1 | c.-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) | |
14 | g.68925605T>A | CA390177973 | ACTN1 | c.-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) | |
14 | g.68925605T>C | CA390177974 | ACTN1 | c.-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) | |
14 | g.68925605T>G | CA390177975 | ACTN1 | c.-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) | |
14 | g.68925606C>A | CA390177976 | ACTN1 | c.-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) | |
14 | g.68925606C>G | CA390177977 | ACTN1 | c.-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) | |
14 | g.68925606C>T | CA390177978 | ACTN1 | c.-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) | |
14 | g.68925607C>A | CA390177979 | ACTN1 | c.-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) | |
14 | g.68925607C>G | CA390177980 | ACTN1 | c.-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) | |
14 | g.68925607C>T | CA486985219 | ACTN1 | c.-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=) | |
14 | g.68925608T>A | CA390177981 | ACTN1 | c.-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) | |
14 | g.68925608T>C | CA390177982 | ACTN1 | c.-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) | |
14 | g.68925608T>G | CA390177983 | ACTN1 | c.-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) | |
14 | g.68925609C>A | CA390177985 | ACTN1 | c.-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) | |
14 | g.68925609C>G | CA390177986 | ACTN1 | c.-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) | |
14 | g.68925609C>T | CA390177984 | ACTN1 | c.-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) | |
14 | g.68925610T>A | CA390177987 | ACTN1 | c.-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) | |
14 | g.68925610T>C | CA486985220 | ACTN1 | c.-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=) | |
14 | g.68925610T>G | CA390177988 | ACTN1 | c.-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) | |
14 | g.68925611T>A | CA390177989 | ACTN1 | c.-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) | |
14 | g.68925611T>C | CA390177990 | ACTN1 | c.-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) | |
14 | g.68925611T>G | CA390177991 | ACTN1 | c.-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) | |
14 | g.68925612C>A | CA390177992 | ACTN1 | c.-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) | |
14 | g.68925612C= | CA2144526297 | ACTN1 | c.-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=) | |
14 | g.68925612C>G | CA390177993 | ACTN1 | c.-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) | |
14 | g.68925612C>T | CA7242791 | ACTN1 | c.-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 |
14 | g.68925613G>A | CA7242792 | ACTN1 | c.-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 |
14 | g.68925613G>C | CA7242793 | ACTN1 | c.-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 |
14 | g.68925613G= | CA2144526298 | ACTN1 | c.-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=) | |
14 | g.68925613G>T | CA486985223 | ACTN1 | c.-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=) | |
14 | g.68925614A>C | CA390177994 | ACTN1 | c.-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) | |
14 | g.68925614A>G | CA390177995 | ACTN1 | c.-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) | |
14 | g.68925614A>T | CA390177996 | ACTN1 | c.-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) | |
14 | g.68925615T>A | CA390177997 | ACTN1 | c.-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) | |
14 | g.68925615T>C | CA390177999 | ACTN1 | c.-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 |
14 | g.68925615T>G | CA390177998 | ACTN1 | c.-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) | |
14 | g.68925616G>A | CA486985226 | ACTN1 | c.-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=) | |
14 | g.68925616G>C | CA390178000 | ACTN1 | c.-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) | |
14 | g.68925616G>T | CA390178001 | ACTN1 | c.-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) | |
14 | g.68925617T>A | CA390178002 | ACTN1 | c.-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) | |
14 | g.68925617T>C | CA390178003 | ACTN1 | c.-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) | |
14 | g.68925617T>G | CA390178004 | ACTN1 | c.-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) | |
14 | g.68925618T>A | CA390178005 | ACTN1 | c.-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) | |
14 | g.68925618T>C | CA390178006 | ACTN1 | c.-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 |
14 | g.68925618T>G | CA390178007 | ACTN1 | c.-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) | |
14 | g.68925618T= | CA2144526299 | ACTN1 | c.-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=) | |
14 | g.68925619C>A | CA390178008 | ACTN1 | c.-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) | |
14 | g.68925619C>G | CA390178009 | ACTN1 | c.-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) | |
14 | g.68925619C>T | CA486985234 | ACTN1 | c.-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 |
14 | g.68925620T>A | CA390178012 | ACTN1 | c.-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) | |
14 | g.68925620T>C | CA390178011 | ACTN1 | c.-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 |
14 | g.68925620T>G | CA390178010 | ACTN1 | c.-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) | |
14 | g.68925620T= | CA2144526300 | ACTN1 | c.-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=) | |
14 | g.68925621C>A | CA390178013 | ACTN1 | c.-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) | |
14 | g.68925621C= | CA2144526301 | ACTN1 | c.-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=) | |
14 | g.68925621C>G | CA390178015 | ACTN1 | c.-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) | |
14 | g.68925621C>T | CA390178014 | ACTN1 | c.-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 |
14 | g.68925622G>A | CA7242794 | ACTN1 | c.-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 |
14 | g.68925622G>C | CA262874381 | ACTN1 | c.-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 |
14 | g.68925622G= | CA2144526302 | ACTN1 | c.-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=) | |
14 | g.68925622G>T | CA486985242 | ACTN1 | c.-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 |
14 | g.68925623A>C | CA390178016 | ACTN1 | c.-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) | |
14 | g.68925623A>G | CA390178017 | ACTN1 | c.-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) | |
14 | g.68925623A>T | CA390178018 | ACTN1 | c.-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) | |
14 | g.68925624T>A | CA390178019 | ACTN1 | c.-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) | |
14 | g.68925624T>C | CA390178020 | ACTN1 | c.-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) | |
14 | g.68925624T>G | CA390178021 | ACTN1 | c.-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) | |
14 | g.68925625C>A | CA390178022 | ACTN1 | c.-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) | |
14 | g.68925625C>G | CA390178023 | ACTN1 | c.-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) | |
14 | g.68925625C>T | CA486985249 | ACTN1 | c.-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=) | |
14 | g.68925626T>A | CA390178024 | ACTN1 | c.-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) | |
14 | g.68925626T>C | CA390178025 | ACTN1 | c.-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 |
14 | g.68925626T>G | CA390178026 | ACTN1 | c.-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) | |
14 | g.68925629_68925630del | CA2625405070 | ACTN1 | c.-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 |
14 | g.68925627G>A | CA390178029 | ACTN1 | c.-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) | |
14 | g.68925627G>C | CA390178027 | ACTN1 | c.-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 |
14 | g.68925627G= | CA2144526303 | ACTN1 | c.-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=) | |
14 | g.68925627G>T | CA390178028 | ACTN1 | c.-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) | |
14 | g.68925628T>A | CA486985254 | ACTN1 | c.-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=) | |
14 | g.68925628T>C | CA486985255 | ACTN1 | c.-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=) | |
14 | g.68925628T>G | CA486985256 | ACTN1 | c.-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 |
14 | g.68925629G>A | CA390178030 | ACTN1 | c.-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 |
14 | g.68925629G>C | CA390178031 | ACTN1 | c.-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) | |
14 | g.68925629G= | CA2144526304 | ACTN1 | c.-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=) | |
14 | g.68925629G>T | CA390178032 | ACTN1 | c.-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) | |
14 | g.68925630T>A | CA390178033 | ACTN1 | c.-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) | |
14 | g.68925630T>C | CA390178034 | ACTN1 | c.-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) | |
14 | g.68925630T>G | CA390178035 | ACTN1 | c.-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) | |
14 | g.68925631C>A | CA486985260 | ACTN1 | c.-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=) | |
14 | g.68925631C>G | CA486985262 | ACTN1 | c.-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=) | |
14 | g.68925631C>T | CA486985264 | ACTN1 | c.-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 |
14 | g.68925632C>A | CA390178036 | ACTN1 | c.-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) | |
14 | g.68925632C= | CA2144526305 | ACTN1 | c.-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=) | |
14 | g.68925632C>G | CA390178037 | ACTN1 | c.-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 |
14 | g.68925632C>T | CA7242795 | ACTN1 | c.-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 |
14 | g.68925633C>A | CA390178038 | ACTN1 | c.-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) | |
14 | g.68925633C>G | CA390178039 | ACTN1 | c.-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) | |
14 | g.68925633C>T | CA390178040 | ACTN1 | c.-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) | |
14 | g.68925634C>A | CA486985271 | ACTN1 | c.-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=) | |
14 | g.68925634C= | CA2144526306 | ACTN1 | c.-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=) | |
14 | g.68925634C>G | CA486985273 | ACTN1 | c.-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=) | |
14 | g.68925634C>T | CA7242796 | ACTN1 | c.-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 |
14 | g.68925635G>A | CA7242797 | ACTN1 | c.-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 |
14 | g.68925635G>C | CA390178041 | ACTN1 | c.-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) | |
14 | g.68925635G= | CA2144526307 | ACTN1 | c.-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=) | |
14 | g.68925635G>T | CA390178042 | ACTN1 | c.-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 |
14 | g.68925636C>A | CA390178043 | ACTN1 | c.-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) | |
14 | g.68925636C>G | CA390178044 | ACTN1 | c.-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) | |
14 | g.68925636C>T | CA390178045 | ACTN1 | c.-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 |
14 | g.68925637C>A | CA390178046 | ACTN1 | c.-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) | |
14 | g.68925637C= | CA2144526308 | ACTN1 | c.-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=) | |
14 | g.68925637C>G | CA390178047 | ACTN1 | c.-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) | |
14 | g.68925637C>T | CA262874401 | ACTN1 | c.-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 |
14 | g.68925638T>A | CA390178048 | ACTN1 | c.-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) | |
14 | g.68925638T>C | CA390178049 | ACTN1 | c.-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) | |
14 | g.68925638T>G | CA390178050 | ACTN1 | c.-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) | |
14 | g.68925639T>A | CA390178051 | ACTN1 | c.-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) | |
14 | g.68925639T>C | CA390178052 | ACTN1 | c.-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 |
14 | g.68925639T>G | CA390178053 | ACTN1 | c.-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) | |
14 | g.68925640C>A | CA486985280 | ACTN1 | c.-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=) | |
14 | g.68925640C= | CA2144526309 | ACTN1 | c.-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=) | |
14 | g.68925640C>G | CA486985281 | ACTN1 | c.-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=) | |
14 | g.68925640C>T | CA486985283 | ACTN1 | c.-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 |
14 | g.68925641C>A | CA390178054 | ACTN1 | c.-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) | |
14 | g.68925641C= | CA2144526310 | ACTN1 | c.-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=) | |
14 | g.68925641C>G | CA390178055 | ACTN1 | c.-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) | |
14 | g.68925641C>T | CA130967 | ACTN1 | c.-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 |
14 | g.68925642G>A | CA7242798 | ACTN1 | c.-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 |
14 | g.68925642G>C | CA390178056 | ACTN1 | c.-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) | |
14 | g.68925642G= | CA2144526311 | ACTN1 | c.-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=) | |
14 | g.68925642G>T | CA486985286 | ACTN1 | c.-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 |
14 | g.68925643G>A | CA486985287 | ACTN1 | c.-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 |
14 | g.68925643G>C | CA486985288 | ACTN1 | c.-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=) | |
14 | g.68925643G>T | CA486985290 | ACTN1 | c.-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=) | |
14 | g.68925644A>C | CA390178057 | ACTN1 | c.-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) | |
14 | g.68925644A>G | CA390178058 | ACTN1 | c.-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) | |
14 | g.68925644A>T | CA390178059 | ACTN1 | c.-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) | |
14 | g.68925645G>A | CA390178062 | ACTN1 | c.-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) | |
14 | g.68925645G>C | CA390178060 | ACTN1 | c.-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) | |
14 | g.68925645G>T | CA390178061 | ACTN1 | c.-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) | |
14 | g.68925646G>A | CA486985291 | ACTN1 | c.-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=) | |
14 | g.68925646G>C | CA390178063 | ACTN1 | c.-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) | |
14 | g.68925646G>T | CA390178064 | ACTN1 | c.-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) | |
14 | g.68925647T>A | CA390178065 | ACTN1 | c.-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) | |
14 | g.68925647T>C | CA390178066 | ACTN1 | c.-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 |
14 | g.68925647T>G | CA390178067 | ACTN1 | c.-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) | |
14 | g.68925648G>A | CA390178068 | ACTN1 | c.-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 |
14 | g.68925648G>C | CA390178070 | ACTN1 | c.-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) | |
14 | g.68925648G>T | CA390178069 | ACTN1 | c.-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) | |
14 | g.68925649G>A | CA486985293 | ACTN1 | c.-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=) | |
14 | g.68925649G>C | CA486985294 | ACTN1 | c.-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=) | |
14 | g.68925649G>T | CA486985295 | ACTN1 | c.-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=) | |
14 | g.68925650G>A | CA390178071 | ACTN1 | c.-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) | |
14 | g.68925650G>C | CA390178073 | ACTN1 | c.-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) | |
14 | g.68925650G>T | CA390178072 | ACTN1 | c.-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) | |
14 | g.68925651A= | CA2144526312 | ACTN1 | c.-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=) | |
14 | g.68925651A>C | CA7242799 | ACTN1 | c.-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 |
14 | g.68925651A>G | CA390178074 | ACTN1 | c.-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) | |
14 | g.68925651A>T | CA390178075 | ACTN1 | c.-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 |
14 | g.68925652G>A | CA486985297 | ACTN1 | c.-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 |
14 | g.68925652G>C | CA390178076 | ACTN1 | c.-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) | |
14 | g.68925652G>T | CA390178077 | ACTN1 | c.-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) | |
14 | g.68925653T>A | CA390178078 | ACTN1 | c.-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) | |
14 | g.68925653T>C | CA390178079 | ACTN1 | c.-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) | |
14 | g.68925653T>G | CA390178080 | ACTN1 | c.-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) | |
14 | g.68925654T>A | CA390178081 | ACTN1 | c.-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) | |
14 | g.68925654T>C | CA390178082 | ACTN1 | c.-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) | |
14 | g.68925654T>G | CA390178083 | ACTN1 | c.-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) | |
14 | g.68925655A>C | CA390178084 | ACTN1 | c.-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) | |
14 | g.68925655A>G | CA486985300 | ACTN1 | c.-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 |
14 | g.68925655A>T | CA390178085 | ACTN1 | c.-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) | |
14 | g.68925656C>A | CA390178086 | ACTN1 | c.-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) | |
14 | g.68925656C>G | CA390178088 | ACTN1 | c.-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) | |
14 | g.68925656C>T | CA390178087 | ACTN1 | c.-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 |
14 | g.68925657A>C | CA390178089 | ACTN1 | c.-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) | |
14 | g.68925657A>G | CA390178090 | ACTN1 | c.-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) | |
14 | g.68925657A>T | CA390178091 | ACTN1 | c.-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) | |
14 | g.68925658C>A | CA390178092 | ACTN1 | c.-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) | |
14 | g.68925658C>G | CA390178093 | ACTN1 | c.-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) | |
14 | g.68925658C>T | CA390178094 | ACTN1 | c.-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) |