X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del
| ClinVar |
X | g.25013352_25013381delinsGGGCGCTGCCCGGGCCGCCGGCCACGCCGA | CA2420209227 | ARX | c.614_643delinsTCGGCGTGGCCGGCGGCCCGGGCAGCGCCC (p.Leu205=)
| |
X | g.25013359_25013387del | CA10605871 | ARX | c.614_642del (p.Leu205ProfsTer23)
| ClinVar dbSNP |
X | g.25013381A>C | CA412612801 | ARX | c.614T>G (p.Leu205Arg)
| |
X | g.25013381A>G | CA412612802 | ARX | c.614T>C (p.Leu205Pro)
| |
X | g.25013381A>T | CA412612803 | ARX | c.614T>A (p.Leu205His)
| |
X | g.25013382G>A | CA207632 | ARX | c.613C>T (p.Leu205Phe)
| ClinVar dbSNP gnomAD v4 |
X | g.25013382G>C | CA412612804 | ARX | c.613C>G (p.Leu205Val)
| |
X | g.25013382G= | CA2420209242 | ARX | c.613C= (p.Leu205=)
| |
X | g.25013382G>T | CA412612805 | ARX | c.613C>A (p.Leu205Ile)
| |
X | g.25013383G>A | CA515948069 | ARX | c.612C>T (p.Arg204=)
| |
X | g.25013383G>C | CA515948070 | ARX | c.612C>G (p.Arg204=)
| |
X | g.25013383G>T | CA515948071 | ARX | c.612C>A (p.Arg204=)
| gnomAD v4 |
X | g.25013384C>A | CA412612806 | ARX | c.611G>T (p.Arg204Leu)
| ClinVar dbSNP gnomAD v4 |
X | g.25013384C= | CA2420209243 | ARX | c.611G= (p.Arg204=)
| |
X | g.25013384C>G | CA412612807 | ARX | c.611G>C (p.Arg204Pro)
| ClinVar gnomAD v4 |
X | g.25013384C>T | CA10373892 | ARX | c.611G>A (p.Arg204His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013385G>A | CA412612808 | ARX | c.610C>T (p.Arg204Cys)
| ClinVar gnomAD v4 |
X | g.25013385G>C | CA412612809 | ARX | c.610C>G (p.Arg204Gly)
| gnomAD v4 |
X | g.25013385G= | CA2420209244 | ARX | c.610C= (p.Arg204=)
| |
X | g.25013385G>T | CA10373893 | ARX | c.610C>A (p.Arg204Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013386C>A | CA412612810 | ARX | c.609G>T (p.Glu203Asp)
| gnomAD v4 |
X | g.25013386C>G | CA412612811 | ARX | c.609G>C (p.Glu203Asp)
| |
X | g.25013386C>T | CA515948086 | ARX | c.609G>A (p.Glu203=)
| |
X | g.25013387T>A | CA412612812 | ARX | c.608A>T (p.Glu203Val)
| |
X | g.25013387T>C | CA412612813 | ARX | c.608A>G (p.Glu203Gly)
| gnomAD v4 |
X | g.25013387T>G | CA412612814 | ARX | c.608A>C (p.Glu203Ala)
| |
X | g.25013388C>A | CA412612815 | ARX | c.607G>T (p.Glu203Ter)
| gnomAD v4 |
X | g.25013388C>G | CA412612816 | ARX | c.607G>C (p.Glu203Gln)
| |
X | g.25013388C>T | CA412612817 | ARX | c.607G>A (p.Glu203Lys)
| gnomAD v4 |
X | g.25013389C>A | CA412612819 | ARX | c.606G>T (p.Glu202Asp)
| gnomAD v4 |
X | g.25013389C>G | CA412612818 | ARX | c.606G>C (p.Glu202Asp)
| ClinVar |
X | g.25013389C>T | CA515948103 | ARX | c.606G>A (p.Glu202=)
| |
X | g.25013390T>A | CA412612820 | ARX | c.605A>T (p.Glu202Val)
| |
X | g.25013390T>C | CA412612821 | ARX | c.605A>G (p.Glu202Gly)
| |
X | g.25013390T>G | CA412612822 | ARX | c.605A>C (p.Glu202Ala)
| |
X | g.25013391C>A | CA412612823 | ARX | c.604G>T (p.Glu202Ter)
| |
X | g.25013391C>G | CA412612824 | ARX | c.604G>C (p.Glu202Gln)
| |
X | g.25013391C>T | CA412612825 | ARX | c.604G>A (p.Glu202Lys)
| |
X | g.25013392C>A | CA515948113 | ARX | c.603G>T (p.Pro201=)
| gnomAD v4 |
X | g.25013392C= | CA2420209245 | ARX | c.603G= (p.Pro201=)
| |
X | g.25013392C>G | CA515948114 | ARX | c.603G>C (p.Pro201=)
| |
X | g.25013392C>T | CA515948117 | ARX | c.603G>A (p.Pro201=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013393G>A | CA412612828 | ARX | c.602C>T (p.Pro201Leu)
| dbSNP |
X | g.25013393G>C | CA412612827 | ARX | c.602C>G (p.Pro201Arg)
| |
X | g.25013393G= | CA2420209246 | ARX | c.602C= (p.Pro201=)
| |
X | g.25013393G>T | CA412612826 | ARX | c.602C>A (p.Pro201Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013394G>A | CA412612829 | ARX | c.601C>T (p.Pro201Ser)
| |
X | g.25013394G>C | CA412612830 | ARX | c.601C>G (p.Pro201Ala)
| |
X | g.25013394G= | CA2420209247 | ARX | c.601C= (p.Pro201=)
| |
X | g.25013394G>T | CA412612831 | ARX | c.601C>A (p.Pro201Thr)
| dbSNP |
X | g.25013395G>A | CA224133 | ARX | c.600C>T (p.His200=)
| dbSNP gnomAD v4 |
X | g.25013395G>C | CA412612832 | ARX | c.600C>G (p.His200Gln)
| |
X | g.25013395G= | CA2420209248 | ARX | c.600C= (p.His200=)
| |
X | g.25013395G>T | CA412612833 | ARX | c.600C>A (p.His200Gln)
| |
X | g.25013396T>A | CA412612836 | ARX | c.599A>T (p.His200Leu)
| |
X | g.25013396T>C | CA412612834 | ARX | c.599A>G (p.His200Arg)
| |
X | g.25013396T>G | CA412612835 | ARX | c.599A>C (p.His200Pro)
| |
X | g.25013397G>A | CA412612837 | ARX | c.598C>T (p.His200Tyr)
| |
X | g.25013397G>C | CA412612838 | ARX | c.598C>G (p.His200Asp)
| |
X | g.25013397G>T | CA412612839 | ARX | c.598C>A (p.His200Asn)
| gnomAD v4 |
X | g.25013398C>A | CA515948134 | ARX | c.597G>T (p.Thr199=)
| ClinVar gnomAD v4 |
X | g.25013398C= | CA2420209249 | ARX | c.597G= (p.Thr199=)
| |
X | g.25013398C>G | CA515948132 | ARX | c.597G>C (p.Thr199=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013398C>T | CA224131 | ARX | c.597G>A (p.Thr199=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013399G>A | CA412612840 | ARX | c.596C>T (p.Thr199Met)
| gnomAD v4 |
X | g.25013399G>C | CA412612841 | ARX | c.596C>G (p.Thr199Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013399G= | CA2420209250 | ARX | c.596C= (p.Thr199=)
| |
X | g.25013399G>T | CA412612842 | ARX | c.596C>A (p.Thr199Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013400T>A | CA412612843 | ARX | c.595A>T (p.Thr199Ser)
| |
X | g.25013400T>C | CA412612844 | ARX | c.595A>G (p.Thr199Ala)
| ClinVar |
X | g.25013400T>G | CA412612845 | ARX | c.595A>C (p.Thr199Pro)
| |
X | g.25013401del | CA2738477725 | ARX | c.594del (p.Thr199ArgfsTer?)
| dbSNP |
X | g.25013401G>A | CA515948142 | ARX | c.594C>T (p.Val198=)
| ClinVar gnomAD v4 |
X | g.25013401G>C | CA515948141 | ARX | c.594C>G (p.Val198=)
| ClinVar |
X | g.25013401G>T | CA515948140 | ARX | c.594C>A (p.Val198=)
| gnomAD v4 |
X | g.25013402A= | CA2420209251 | ARX | c.593T= (p.Val198=)
| |
X | g.25013402A>C | CA412612846 | ARX | c.593T>G (p.Val198Gly)
| |
X | g.25013402A>G | CA224129 | ARX | c.593T>C (p.Val198Ala)
| ClinVar dbSNP gnomAD v4 |
X | g.25013402A>T | CA412612847 | ARX | c.593T>A (p.Val198Asp)
| |
X | g.25013403C>A | CA412612848 | ARX | c.592G>T (p.Val198Phe)
| dbSNP gnomAD v4 |
X | g.25013403C= | CA2420209252 | ARX | c.592G= (p.Val198=)
| |
X | g.25013403C>G | CA412612849 | ARX | c.592G>C (p.Val198Leu)
| |
X | g.25013403C>T | CA327733052 | ARX | c.592G>A (p.Val198Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013404G>A | CA515948147 | ARX | c.591C>T (p.Gly197=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013404G>C | CA515948148 | ARX | c.591C>G (p.Gly197=)
| |
X | g.25013404G= | CA2420209253 | ARX | c.591C= (p.Gly197=)
| |
X | g.25013404G>T | CA515948149 | ARX | c.591C>A (p.Gly197=)
| |
X | g.25013405C>A | CA412612850 | ARX | c.590G>T (p.Gly197Val)
| dbSNP |
X | g.25013405C= | CA2420209254 | ARX | c.590G= (p.Gly197=)
| |
X | g.25013405C>G | CA412612851 | ARX | c.590G>C (p.Gly197Ala)
| |
X | g.25013405C>T | CA224127 | ARX | c.590G>A (p.Gly197Asp)
| ClinVar dbSNP gnomAD v4 |
X | g.25013410dup | CA2508779922 | ARX | c.590dup (p.Val198ArgfsTer?)
| ClinVar gnomAD v4 |
X | g.25013410del | CA645618123 | ARX | c.590del (p.Gly197AlafsTer?)
| gnomAD v4 COSMIC |
X | g.25013406C>A | CA412612852 | ARX | c.589G>T (p.Gly197Cys)
| gnomAD v4 |
X | g.25013406C= | CA2420209255 | ARX | c.589G= (p.Gly197=)
| |
X | g.25013406C>G | CA412612853 | ARX | c.589G>C (p.Gly197Arg)
| |
X | g.25013406C>T | CA412612854 | ARX | c.589G>A (p.Gly197Ser)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013407C>A | CA515948151 | ARX | c.588G>T (p.Gly196=)
| |
X | g.25013407C>G | CA515948153 | ARX | c.588G>C (p.Gly196=)
| |
X | g.25013407C>T | CA515948155 | ARX | c.588G>A (p.Gly196=)
| gnomAD v4 |
X | g.25013408C>A | CA412612855 | ARX | c.587G>T (p.Gly196Val)
| gnomAD v4 |
X | g.25013408C= | CA2420209256 | ARX | c.587G= (p.Gly196=)
| |
X | g.25013408C>G | CA412612856 | ARX | c.587G>C (p.Gly196Ala)
| dbSNP |
X | g.25013408C>T | CA412612857 | ARX | c.587G>A (p.Gly196Glu)
| |
X | g.25013409C>A | CA412612858 | ARX | c.586G>T (p.Gly196Trp)
| gnomAD v3 gnomAD v4 |
X | g.25013409C= | CA2420209257 | ARX | c.586G= (p.Gly196=)
| |
X | g.25013409C>G | CA412612859 | ARX | c.586G>C (p.Gly196Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013409C>T | CA412612860 | ARX | c.586G>A (p.Gly196Arg)
| dbSNP |
X | g.25013410C>A | CA515948158 | ARX | c.585G>T (p.Pro195=)
| gnomAD v4 |
X | g.25013410C>G | CA515948159 | ARX | c.585G>C (p.Pro195=)
| ClinVar |
X | g.25013410C>T | CA515948160 | ARX | c.585G>A (p.Pro195=)
| gnomAD v4 |
X | g.25013411G>A | CA412612863 | ARX | c.584C>T (p.Pro195Leu)
| gnomAD v4 |
X | g.25013411G>C | CA412612862 | ARX | c.584C>G (p.Pro195Arg)
| |
X | g.25013411G>T | CA412612861 | ARX | c.584C>A (p.Pro195Gln)
| gnomAD v4 |
X | g.25013412G>A | CA412612864 | ARX | c.583C>T (p.Pro195Ser)
| |
X | g.25013412G>C | CA412612865 | ARX | c.583C>G (p.Pro195Ala)
| |
X | g.25013412G>T | CA412612866 | ARX | c.583C>A (p.Pro195Thr)
| |
X | g.25013413G>A | CA515948167 | ARX | c.582C>T (p.Gly194=)
| gnomAD v4 |
X | g.25013413G>C | CA515948169 | ARX | c.582C>G (p.Gly194=)
| |
X | g.25013413G>T | CA515948171 | ARX | c.582C>A (p.Gly194=)
| gnomAD v4 |
X | g.25013414C>A | CA412612867 | ARX | c.581G>T (p.Gly194Val)
| gnomAD v4 |
X | g.25013414C>G | CA412612868 | ARX | c.581G>C (p.Gly194Ala)
| |
X | g.25013414C>T | CA412612869 | ARX | c.581G>A (p.Gly194Asp)
| gnomAD v4 |
X | g.25013415C>A | CA412612870 | ARX | c.580G>T (p.Gly194Cys)
| gnomAD v4 |
X | g.25013415C>G | CA412612871 | ARX | c.580G>C (p.Gly194Arg)
| |
X | g.25013415C>T | CA412612872 | ARX | c.580G>A (p.Gly194Ser)
| gnomAD v4 |
X | g.25013416G>A | CA515948182 | ARX | c.579C>T (p.Gly193=)
| ClinVar gnomAD v4 |
X | g.25013416G>C | CA515948184 | ARX | c.579C>G (p.Gly193=)
| |
X | g.25013416G>T | CA515948185 | ARX | c.579C>A (p.Gly193=)
| gnomAD v4 |
X | g.25013417C>A | CA412612873 | ARX | c.578G>T (p.Gly193Val)
| gnomAD v4 |
X | g.25013417C>G | CA412612874 | ARX | c.578G>C (p.Gly193Ala)
| ClinVar dbSNP gnomAD v4 |
X | g.25013417C>T | CA412612875 | ARX | c.578G>A (p.Gly193Asp)
| gnomAD v4 |
X | g.25013418C>A | CA412612876 | ARX | c.577G>T (p.Gly193Cys)
| gnomAD v4 |
X | g.25013418C>G | CA412612878 | ARX | c.577G>C (p.Gly193Arg)
| |
X | g.25013418C>T | CA412612877 | ARX | c.577G>A (p.Gly193Ser)
| |
X | g.25013419C>A | CA515948190 | ARX | c.576G>T (p.Leu192=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013419C= | CA2420209258 | ARX | c.576G= (p.Leu192=)
| |
X | g.25013419C>G | CA515948192 | ARX | c.576G>C (p.Leu192=)
| |
X | g.25013419C>T | CA515948193 | ARX | c.576G>A (p.Leu192=)
| gnomAD v4 |
X | g.25013420A>C | CA412612879 | ARX | c.575T>G (p.Leu192Arg)
| |
X | g.25013420A>G | CA412612881 | ARX | c.575T>C (p.Leu192Pro)
| gnomAD v4 |
X | g.25013420A>T | CA412612880 | ARX | c.575T>A (p.Leu192Gln)
| |
X | g.25013420_25013421del | CA2532249379 | ARX | c.574_575del (p.Leu192GlyfsTer?)
| |
X | g.25013421G>A | CA515948198 | ARX | c.574C>T (p.Leu192=)
| gnomAD v4 |
X | g.25013421G>C | CA412612882 | ARX | c.574C>G (p.Leu192Val)
| gnomAD v4 |
X | g.25013421G>T | CA412612883 | ARX | c.574C>A (p.Leu192Met)
| gnomAD v4 |
X | g.25013422C>A | CA412612884 | ARX | c.573G>T (p.Glu191Asp)
| gnomAD v4 |
X | g.25013422C>G | CA412612885 | ARX | c.573G>C (p.Glu191Asp)
| |
X | g.25013422C>T | CA515948201 | ARX | c.573G>A (p.Glu191=)
| gnomAD v4 |
X | g.25013423T>A | CA412612886 | ARX | c.572A>T (p.Glu191Val)
| |
X | g.25013423T>C | CA412612888 | ARX | c.572A>G (p.Glu191Gly)
| gnomAD v4 |
X | g.25013423T>G | CA412612887 | ARX | c.572A>C (p.Glu191Ala)
| |
X | g.25013424C>A | CA412612889 | ARX | c.571G>T (p.Glu191Ter)
| dbSNP gnomAD v4 |
X | g.25013424C>G | CA412612891 | ARX | c.571G>C (p.Glu191Gln)
| |
X | g.25013424C>T | CA412612890 | ARX | c.571G>A (p.Glu191Lys)
| gnomAD v4 |
X | g.25013425G>A | CA515948209 | ARX | c.570C>T (p.Asp190=)
| gnomAD v4 |
X | g.25013425G>C | CA412612892 | ARX | c.570C>G (p.Asp190Glu)
| gnomAD v4 |
X | g.25013425G>T | CA412612893 | ARX | c.570C>A (p.Asp190Glu)
| gnomAD v4 |
X | g.25013426T>A | CA412612894 | ARX | c.569A>T (p.Asp190Val)
| |
X | g.25013426T>C | CA412612896 | ARX | c.569A>G (p.Asp190Gly)
| gnomAD v4 |
X | g.25013426T>G | CA412612895 | ARX | c.569A>C (p.Asp190Ala)
| dbSNP |
X | g.25013426T= | CA2420209259 | ARX | c.569A= (p.Asp190=)
| |
X | g.25013427C>A | CA412612897 | ARX | c.568G>T (p.Asp190Tyr)
| gnomAD v4 |
X | g.25013427C>G | CA412612899 | ARX | c.568G>C (p.Asp190His)
| |
X | g.25013427C>T | CA412612898 | ARX | c.568G>A (p.Asp190Asn)
| gnomAD v4 |
X | g.25013428C>A | CA515948215 | ARX | c.567G>T (p.Leu189=)
| gnomAD v4 |
X | g.25013428C>G | CA515948217 | ARX | c.567G>C (p.Leu189=)
| gnomAD v4 |
X | g.25013428C>T | CA515948219 | ARX | c.567G>A (p.Leu189=)
| gnomAD v4 |
X | g.25013429A= | CA2420209260 | ARX | c.566T= (p.Leu189=)
| |
X | g.25013429A>C | CA412612900 | ARX | c.566T>G (p.Leu189Arg)
| |
X | g.25013429A>G | CA412612902 | ARX | c.566T>C (p.Leu189Pro)
| dbSNP gnomAD v4 |
X | g.25013429A>T | CA412612901 | ARX | c.566T>A (p.Leu189Gln)
| gnomAD v4 |
X | g.25013430G>A | CA515948223 | ARX | c.565C>T (p.Leu189=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013430G>C | CA412612903 | ARX | c.565C>G (p.Leu189Val)
| |
X | g.25013430G= | CA2420209261 | ARX | c.565C= (p.Leu189=)
| |
X | g.25013430G>T | CA412612904 | ARX | c.565C>A (p.Leu189Met)
| gnomAD v4 |
X | g.25013431C>A | CA515948224 | ARX | c.564G>T (p.Ala188=)
| gnomAD v4 |
X | g.25013431C= | CA2420209262 | ARX | c.564G= (p.Ala188=)
| |
X | g.25013431C>G | CA515948226 | ARX | c.564G>C (p.Ala188=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013431C>T | CA515948229 | ARX | c.564G>A (p.Ala188=)
| gnomAD v4 |
X | g.25013432G>A | CA412612905 | ARX | c.563C>T (p.Ala188Val)
| gnomAD v4 |
X | g.25013432G>C | CA412612906 | ARX | c.563C>G (p.Ala188Gly)
| ClinVar dbSNP |
X | g.25013432G= | CA2420209264 | ARX | c.563C= (p.Ala188=)
| |
X | g.25013432G>T | CA412612907 | ARX | c.563C>A (p.Ala188Glu)
| dbSNP gnomAD v4 |
X | g.25013432_25013433delinsGC | CA2420209263 | ARX | c.562_563delinsGC (p.Ala188=)
| |
X | g.25013432_25013433delinsTA | CA213324 | ARX | c.562_563delinsTA (p.Ala188Ter)
| ClinVar dbSNP |
X | g.25013433del | CA2693353698 | ARX | c.562del (p.Ala188ArgfsTer?)
| gnomAD v4 |
X | g.25013433C>A | CA412612908 | ARX | c.562G>T (p.Ala188Ser)
| gnomAD v4 |
X | g.25013433C>G | CA412612909 | ARX | c.562G>C (p.Ala188Pro)
| |
X | g.25013433C>T | CA412612910 | ARX | c.562G>A (p.Ala188Thr)
| gnomAD v4 |
X | g.25013434G>A | CA515948234 | ARX | c.561C>T (p.Pro187=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013434G>C | CA515948235 | ARX | c.561C>G (p.Pro187=)
| ClinVar gnomAD v4 |
X | g.25013434G= | CA2420209266 | ARX | c.561C= (p.Pro187=)
| |
X | g.25013434G>T | CA515948238 | ARX | c.561C>A (p.Pro187=)
| gnomAD v4 |
X | g.25013434_25013436del | CA2820100838 | ARX | c.559_561del (p.Pro187del)
| |
X | g.25013436del | CA2693353699 | ARX | c.561del (p.Ala188ArgfsTer?)
| gnomAD v4 |
X | g.25013434_25013437delinsGGGC | CA2420209265 | ARX | c.558_561delinsGCCC (p.Pro186=)
| |
X | g.25013435G>A | CA412612911 | ARX | c.560C>T (p.Pro187Leu)
| gnomAD v4 |
X | g.25013435G>C | CA412612912 | ARX | c.560C>G (p.Pro187Arg)
| |
X | g.25013435G>T | CA412612913 | ARX | c.560C>A (p.Pro187His)
| gnomAD v4 |
X | g.25013444_25013446dup | CA641364633 | ARX | c.558_560dup (p.Pro187_Ala188insPro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013444_25013446del | CA641364632 | ARX | c.558_560del (p.Pro187del)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013436G>A | CA412612916 | ARX | c.559C>T (p.Pro187Ser)
| gnomAD v4 |
X | g.25013436G>C | CA412612914 | ARX | c.559C>G (p.Pro187Ala)
| |
X | g.25013436G>T | CA412612915 | ARX | c.559C>A (p.Pro187Thr)
| gnomAD v4 |
X | g.25013437del | CA2693353700 | ARX | c.558del (p.Ala188ArgfsTer?)
| gnomAD v4 |
X | g.25013437C>A | CA10373894 | ARX | c.558G>T (p.Pro186=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013437C= | CA2420209267 | ARX | c.558G= (p.Pro186=)
| |
X | g.25013437C>G | CA515948247 | ARX | c.558G>C (p.Pro186=)
| gnomAD v4 |
X | g.25013437C>T | CA515948244 | ARX | c.558G>A (p.Pro186=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013438G>A | CA412612917 | ARX | c.557C>T (p.Pro186Leu)
| gnomAD v4 |
X | g.25013438G>C | CA412612918 | ARX | c.557C>G (p.Pro186Arg)
| |
X | g.25013438G= | CA2420209268 | ARX | c.557C= (p.Pro186=)
| |
X | g.25013438G>T | CA16609171 | ARX | c.557C>A (p.Pro186Gln)
| ClinVar dbSNP gnomAD v4 |
X | g.25013439dup | CA2740097963 | ARX | c.557dup (p.Pro187AlafsTer?)
| |
X | g.25013439G>A | CA412612919 | ARX | c.556C>T (p.Pro186Ser)
| gnomAD v4 |
X | g.25013439G>C | CA412612920 | ARX | c.556C>G (p.Pro186Ala)
| gnomAD v4 |
X | g.25013439G>T | CA412612921 | ARX | c.556C>A (p.Pro186Thr)
| gnomAD v4 |
X | g.25013440del | CA2693353701 | ARX | c.555del (p.Pro186ArgfsTer?)
| gnomAD v4 |
X | g.25013440C>A | CA515948253 | ARX | c.555G>T (p.Pro185=)
| gnomAD v4 |
X | g.25013440C= | CA2420209269 | ARX | c.555G= (p.Pro185=)
| |
X | g.25013440C>G | CA515948251 | ARX | c.555G>C (p.Pro185=)
| gnomAD v4 |
X | g.25013440C>T | CA515948252 | ARX | c.555G>A (p.Pro185=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013441G>A | CA412612922 | ARX | c.554C>T (p.Pro185Leu)
| gnomAD v4 |
X | g.25013441G>C | CA412612923 | ARX | c.554C>G (p.Pro185Arg)
| gnomAD v4 |
X | g.25013441G= | CA2420209270 | ARX | c.554C= (p.Pro185=)
| |
X | g.25013441G>T | CA327733053 | ARX | c.554C>A (p.Pro185Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013442G>A | CA412612926 | ARX | c.553C>T (p.Pro185Ser)
| ClinVar dbSNP gnomAD v4 |
X | g.25013442G>C | CA412612925 | ARX | c.553C>G (p.Pro185Ala)
| gnomAD v4 |
X | g.25013442G= | CA2420209271 | ARX | c.553C= (p.Pro185=)
| |
X | g.25013442G>T | CA412612924 | ARX | c.553C>A (p.Pro185Thr)
| gnomAD v4 |
X | g.25013447_25013547del | CA2820100839 | ARX | c.453_553del (p.Ala154ArgfsTer?)
| |
X | g.25013443C>A | CA515948259 | ARX | c.552G>T (p.Pro184=)
| gnomAD v4 |
X | g.25013443C>G | CA515948260 | ARX | c.552G>C (p.Pro184=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013443C>T | CA515948258 | ARX | c.552G>A (p.Pro184=)
| ClinVar gnomAD v4 COSMIC |
X | g.25013444G>A | CA412612927 | ARX | c.551C>T (p.Pro184Leu)
| gnomAD v3 gnomAD v4 |
X | g.25013444G>C | CA412612928 | ARX | c.551C>G (p.Pro184Arg)
| ClinVar dbSNP gnomAD v4 |
X | g.25013444G= | CA2420209272 | ARX | c.551C= (p.Pro184=)
| |
X | g.25013444G>T | CA412612929 | ARX | c.551C>A (p.Pro184Gln)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013445G>A | CA412612930 | ARX | c.550C>T (p.Pro184Ser)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013445G>C | CA412612931 | ARX | c.550C>G (p.Pro184Ala)
| ClinVar gnomAD v4 |
X | g.25013445G= | CA2420209273 | ARX | c.550C= (p.Pro184=)
| |
X | g.25013445G>T | CA412612932 | ARX | c.550C>A (p.Pro184Thr)
| gnomAD v4 |
X | g.25013446C>A | CA515948271 | ARX | c.549G>T (p.Val183=)
| gnomAD v4 |
X | g.25013446C= | CA2420209274 | ARX | c.549G= (p.Val183=)
| |
X | g.25013446C>G | CA515948273 | ARX | c.549G>C (p.Val183=)
| gnomAD v4 |
X | g.25013446C>T | CA515948276 | ARX | c.549G>A (p.Val183=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013447A>C | CA412612933 | ARX | c.548T>G (p.Val183Gly)
| |
X | g.25013447A>G | CA412612934 | ARX | c.548T>C (p.Val183Ala)
| gnomAD v4 |
X | g.25013447A>T | CA412612935 | ARX | c.548T>A (p.Val183Glu)
| |
X | g.25013448C>A | CA412612936 | ARX | c.547G>T (p.Val183Leu)
| gnomAD v4 |
X | g.25013448C>G | CA412612937 | ARX | c.547G>C (p.Val183Leu)
| ClinVar |
X | g.25013448C>T | CA412612938 | ARX | c.547G>A (p.Val183Met)
| gnomAD v4 |
X | g.25013449G>A | CA515948284 | ARX | c.546C>T (p.Phe182=)
| gnomAD v4 |
X | g.25013449G>C | CA412612940 | ARX | c.546C>G (p.Phe182Leu)
| |
X | g.25013449G>T | CA412612939 | ARX | c.546C>A (p.Phe182Leu)
| gnomAD v4 |
X | g.25013450A>C | CA412612941 | ARX | c.545T>G (p.Phe182Cys)
| |
X | g.25013450A>G | CA412612942 | ARX | c.545T>C (p.Phe182Ser)
| gnomAD v4 |
X | g.25013450A>T | CA412612943 | ARX | c.545T>A (p.Phe182Tyr)
| gnomAD v4 |
X | g.25013451del | CA2693353702 | ARX | c.545del (p.Phe182SerfsTer?)
| gnomAD v4 |
X | g.25013451A>C | CA412612944 | ARX | c.544T>G (p.Phe182Val)
| gnomAD v4 |
X | g.25013451A>G | CA412612945 | ARX | c.544T>C (p.Phe182Leu)
| gnomAD v4 |
X | g.25013451A>T | CA412612946 | ARX | c.544T>A (p.Phe182Ile)
| gnomAD v4 |
X | g.25013452G>A | CA289511 | ARX | c.543C>T (p.Pro181=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013452G>C | CA515948293 | ARX | c.543C>G (p.Pro181=)
| |
X | g.25013452G= | CA2420209275 | ARX | c.543C= (p.Pro181=)
| |
X | g.25013452G>T | CA515948294 | ARX | c.543C>A (p.Pro181=)
| gnomAD v4 |
X | g.25013453G>A | CA412612947 | ARX | c.542C>T (p.Pro181Leu)
| gnomAD v4 |
X | g.25013453G>C | CA412612948 | ARX | c.542C>G (p.Pro181Arg)
| |
X | g.25013453G>T | CA412612949 | ARX | c.542C>A (p.Pro181His)
| gnomAD v4 |
X | g.25013454G>A | CA412612950 | ARX | c.541C>T (p.Pro181Ser)
| ClinVar gnomAD v4 |
X | g.25013454G>C | CA412612951 | ARX | c.541C>G (p.Pro181Ala)
| gnomAD v4 |
X | g.25013454G>T | CA412612952 | ARX | c.541C>A (p.Pro181Thr)
| ClinVar dbSNP gnomAD v4 |
X | g.25013455C>A | CA241831 | ARX | c.540G>T (p.Ala180=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013455C= | CA2420209276 | ARX | c.540G= (p.Ala180=)
| |
X | g.25013455C>G | CA515947493 | ARX | c.540G>C (p.Ala180=)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013455C>T | CA515947492 | ARX | c.540G>A (p.Ala180=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013456G>A | CA412612954 | ARX | c.539C>T (p.Ala180Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013456G>C | CA412612953 | ARX | c.539C>G (p.Ala180Gly)
| gnomAD v4 |
X | g.25013456G= | CA2420209277 | ARX | c.539C= (p.Ala180=)
| |
X | g.25013456G>T | CA412612955 | ARX | c.539C>A (p.Ala180Glu)
| gnomAD v4 |
X | g.25013457C>A | CA412612956 | ARX | c.538G>T (p.Ala180Ser)
| gnomAD v4 |
X | g.25013457C= | CA2420209278 | ARX | c.538G= (p.Ala180=)
| |
X | g.25013457C>G | CA412612957 | ARX | c.538G>C (p.Ala180Pro)
| dbSNP |
X | g.25013457C>T | CA412612958 | ARX | c.538G>A (p.Ala180Thr)
| gnomAD v4 |
X | g.25013460del | CA2693353703 | ARX | c.538del (p.Ala180ArgfsTer?)
| gnomAD v4 |
X | g.25013458C>A | CA515947498 | ARX | c.537G>T (p.Gly179=)
| gnomAD v4 |
X | g.25013458C>G | CA515947499 | ARX | c.537G>C (p.Gly179=)
| gnomAD v4 |
X | g.25013458C>T | CA515947500 | ARX | c.537G>A (p.Gly179=)
| gnomAD v4 |
X | g.25013459C>A | CA412612959 | ARX | c.536G>T (p.Gly179Val)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013459C= | CA2420209279 | ARX | c.536G= (p.Gly179=)
| |
X | g.25013459C>G | CA412612960 | ARX | c.536G>C (p.Gly179Ala)
| gnomAD v4 |
X | g.25013459C>T | CA412612961 | ARX | c.536G>A (p.Gly179Glu)
| gnomAD v4 |
X | g.25013460C>A | CA412612962 | ARX | c.535G>T (p.Gly179Trp)
| gnomAD v4 |
X | g.25013460C= | CA2420209280 | ARX | c.535G= (p.Gly179=)
| |
X | g.25013460C>G | CA412612963 | ARX | c.535G>C (p.Gly179Arg)
| ClinVar dbSNP |
X | g.25013460C>T | CA412612964 | ARX | c.535G>A (p.Gly179Arg)
| gnomAD v4 |
X | g.25013460_25013461insT | CA2820100841 | ARX | c.534_535insA (p.Gly179ArgfsTer?)
| |
X | g.25013461G>A | CA515947501 | ARX | c.534C>T (p.Asn178=)
| gnomAD v4 |
X | g.25013461G>C | CA412612965 | ARX | c.534C>G (p.Asn178Lys)
| gnomAD v4 |
X | g.25013461G>T | CA412612966 | ARX | c.534C>A (p.Asn178Lys)
| gnomAD v4 |
X | g.25013462T>A | CA412612969 | ARX | c.533A>T (p.Asn178Ile)
| gnomAD v4 |
X | g.25013462T>C | CA412612968 | ARX | c.533A>G (p.Asn178Ser)
| gnomAD v4 |
X | g.25013462T>G | CA412612967 | ARX | c.533A>C (p.Asn178Thr)
| |
X | g.25013463T>A | CA412612970 | ARX | c.532A>T (p.Asn178Tyr)
| gnomAD v4 |
X | g.25013463T>C | CA412612971 | ARX | c.532A>G (p.Asn178Asp)
| gnomAD v4 |
X | g.25013463T>G | CA412612972 | ARX | c.532A>C (p.Asn178His)
| |
X | g.25013464C>A | CA412612973 | ARX | c.531G>T (p.Glu177Asp)
| gnomAD v4 |
X | g.25013464C>G | CA412612974 | ARX | c.531G>C (p.Glu177Asp)
| |
X | g.25013464C>T | CA515947508 | ARX | c.531G>A (p.Glu177=)
| gnomAD v4 |
X | g.25013465T>A | CA412612975 | ARX | c.530A>T (p.Glu177Val)
| gnomAD v4 |
X | g.25013465T>C | CA412612976 | ARX | c.530A>G (p.Glu177Gly)
| gnomAD v4 |
X | g.25013465T>G | CA412612977 | ARX | c.530A>C (p.Glu177Ala)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013465T= | CA2420209281 | ARX | c.530A= (p.Glu177=)
| |
X | g.25013466C>A | CA412612978 | ARX | c.529G>T (p.Glu177Ter)
| gnomAD v4 |
X | g.25013466C>G | CA412612979 | ARX | c.529G>C (p.Glu177Gln)
| |
X | g.25013466C>T | CA412612980 | ARX | c.529G>A (p.Glu177Lys)
| gnomAD v4 |
X | g.25013467G>A | CA10373895 | ARX | c.528C>T (p.Arg176=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013467G>C | CA515947515 | ARX | c.528C>G (p.Arg176=)
| |
X | g.25013467G= | CA2420209282 | ARX | c.528C= (p.Arg176=)
| |
X | g.25013467G>T | CA515947518 | ARX | c.528C>A (p.Arg176=)
| gnomAD v4 |
X | g.25013468C>A | CA412612983 | ARX | c.527G>T (p.Arg176Leu)
| gnomAD v4 |
X | g.25013468C>G | CA412612982 | ARX | c.527G>C (p.Arg176Pro)
| gnomAD v4 |
X | g.25013468C>T | CA412612981 | ARX | c.527G>A (p.Arg176His)
| gnomAD v4 |
X | g.25013469G>A | CA412612984 | ARX | c.526C>T (p.Arg176Cys)
| gnomAD v4 |
X | g.25013469G>C | CA412612985 | ARX | c.526C>G (p.Arg176Gly)
| |
X | g.25013469G>T | CA412612986 | ARX | c.526C>A (p.Arg176Ser)
| gnomAD v4 |
X | g.25013470G>A | CA515947523 | ARX | c.525C>T (p.Tyr175=)
| gnomAD v4 |
X | g.25013470G>C | CA412612987 | ARX | c.525C>G (p.Tyr175Ter)
| ClinVar dbSNP gnomAD v4 |
X | g.25013470G= | CA2420209283 | ARX | c.525C= (p.Tyr175=)
| |
X | g.25013470G>T | CA412612988 | ARX | c.525C>A (p.Tyr175Ter)
| gnomAD v4 |
X | g.25013471T>A | CA412612991 | ARX | c.524A>T (p.Tyr175Phe)
| gnomAD v4 |
X | g.25013471T>C | CA412612990 | ARX | c.524A>G (p.Tyr175Cys)
| gnomAD v4 |
X | g.25013471T>G | CA412612989 | ARX | c.524A>C (p.Tyr175Ser)
| |
X | g.25013472A= | CA2420209284 | ARX | c.523T= (p.Tyr175=)
| |
X | g.25013472A>C | CA412612992 | ARX | c.523T>G (p.Tyr175Asp)
| |
X | g.25013472A>G | CA412612993 | ARX | c.523T>C (p.Tyr175His)
| dbSNP gnomAD v4 |
X | g.25013472A>T | CA412612994 | ARX | c.523T>A (p.Tyr175Asn)
| gnomAD v4 |
X | g.25013473C>A | CA515947532 | ARX | c.522G>T (p.Ser174=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013473C= | CA2420209285 | ARX | c.522G= (p.Ser174=)
| |
X | g.25013473C>G | CA515947534 | ARX | c.522G>C (p.Ser174=)
| |
X | g.25013473C>T | CA515947537 | ARX | c.522G>A (p.Ser174=)
| gnomAD v4 |
X | g.25013474G>A | CA412612995 | ARX | c.521C>T (p.Ser174Leu)
| gnomAD v4 |
X | g.25013474G>C | CA412612996 | ARX | c.521C>G (p.Ser174Trp)
| |
X | g.25013474G>T | CA412612997 | ARX | c.521C>A (p.Ser174Ter)
| gnomAD v4 |
X | g.25013475A>C | CA412612998 | ARX | c.520T>G (p.Ser174Ala)
| |
X | g.25013475A>G | CA412613000 | ARX | c.520T>C (p.Ser174Pro)
| gnomAD v4 |
X | g.25013475A>T | CA412612999 | ARX | c.520T>A (p.Ser174Thr)
| gnomAD v4 |
X | g.25013476C>A | CA412613001 | ARX | c.519G>T (p.Lys173Asn)
| gnomAD v4 |
X | g.25013476C= | CA2420209286 | ARX | c.519G= (p.Lys173=)
| |
X | g.25013476C>G | CA412613002 | ARX | c.519G>C (p.Lys173Asn)
| gnomAD v4 |
X | g.25013476C>T | CA515947547 | ARX | c.519G>A (p.Lys173=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013477T>A | CA412613003 | ARX | c.518A>T (p.Lys173Met)
| gnomAD v4 |
X | g.25013477T>C | CA412613004 | ARX | c.518A>G (p.Lys173Arg)
| gnomAD v4 |
X | g.25013477T>G | CA412613005 | ARX | c.518A>C (p.Lys173Thr)
| |
X | g.25013478T>A | CA412613006 | ARX | c.517A>T (p.Lys173Ter)
| gnomAD v4 |
X | g.25013478T>C | CA412613007 | ARX | c.517A>G (p.Lys173Glu)
| gnomAD v4 |
X | g.25013478T>G | CA412613008 | ARX | c.517A>C (p.Lys173Gln)
| |
X | g.25013479G>A | CA515947557 | ARX | c.516C>T (p.Ser172=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013479G>C | CA412613009 | ARX | c.516C>G (p.Ser172Arg)
| gnomAD v4 |
X | g.25013479G= | CA2420209287 | ARX | c.516C= (p.Ser172=)
| |
X | g.25013479G>T | CA412613010 | ARX | c.516C>A (p.Ser172Arg)
| gnomAD v4 |
X | g.25013480C>A | CA412613013 | ARX | c.515G>T (p.Ser172Ile)
| gnomAD v4 |
X | g.25013480C>G | CA412613012 | ARX | c.515G>C (p.Ser172Thr)
| gnomAD v4 |
X | g.25013480C>T | CA412613011 | ARX | c.515G>A (p.Ser172Asn)
| gnomAD v4 |
X | g.25013481T>A | CA412613014 | ARX | c.514A>T (p.Ser172Cys)
| |
X | g.25013481T>C | CA412613016 | ARX | c.514A>G (p.Ser172Gly)
| gnomAD v4 |
X | g.25013481T>G | CA412613015 | ARX | c.514A>C (p.Ser172Arg)
| |