Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.130458384G>T | CA2692120543 | ASS1 | c.175-17G>T (n.175-17G>T) c.289-17G>T (n.289-17G>T) c.271-17G>T (n.271-17G>T) | gnomAD v4 |
9 | g.130458385G>C | CA1881249921 | ASS1 | c.175-16G>C (n.175-16G>C) c.289-16G>C (n.289-16G>C) c.271-16G>C (n.271-16G>C) | dbSNP |
9 | g.130458385G= | CA1881249920 | ASS1 | c.175-16G= (n.175-16G=) c.289-16G= (n.289-16G=) c.271-16G= (n.271-16G=) | |
9 | g.130458385G>T | CA5283186 | ASS1 | c.175-16G>T (n.175-16G>T) c.289-16G>T (n.289-16G>T) c.271-16G>T (n.271-16G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458386C>T | CA2692120553 | ASS1 | c.175-15C>T (n.175-15C>T) c.289-15C>T (n.289-15C>T) c.271-15C>T (n.271-15C>T) | gnomAD v4 |
9 | g.130458389_130458391dup | CA5283187 | ASS1 | c.175-12_175-10dup (n.175-12_175-10dup) c.289-12_289-10dup (n.289-12_289-10dup) c.271-12_271-10dup (n.271-12_271-10dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458389_130458391del | CA2692120552 | ASS1 | c.175-12_175-10del (n.175-12_175-10del) c.289-12_289-10del (n.289-12_289-10del) c.271-12_271-10del (n.271-12_271-10del) | gnomAD v4 |
9 | g.130458388C= | CA1881249922 | ASS1 | c.175-13C= (n.175-13C=) c.289-13C= (n.289-13C=) c.271-13C= (n.271-13C=) | |
9 | g.130458388C>G | CA2692120556 | ASS1 | c.175-13C>G (n.175-13C>G) c.289-13C>G (n.289-13C>G) c.271-13C>G (n.271-13C>G) | gnomAD v4 |
9 | g.130458388C>T | CA590945124 | ASS1 | c.175-13C>T (n.175-13C>T) c.289-13C>T (n.289-13C>T) c.271-13C>T (n.271-13C>T) | ClinVar dbSNP gnomAD v2 |
9 | g.130458389C= | CA1881249923 | ASS1 | c.175-12C= (n.175-12C=) c.289-12C= (n.289-12C=) c.271-12C= (n.271-12C=) | |
9 | g.130458389C>T | CA5283188 | ASS1 | c.175-12C>T (n.175-12C>T) c.289-12C>T (n.289-12C>T) c.271-12C>T (n.271-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458391C= | CA1881249924 | ASS1 | c.175-10C= (n.175-10C=) c.289-10C= (n.289-10C=) c.271-10C= (n.271-10C=) | |
9 | g.130458391C>T | CA590945125 | ASS1 | c.175-10C>T (n.175-10C>T) c.289-10C>T (n.289-10C>T) c.271-10C>T (n.271-10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.130458394C>A | CA590945126 | ASS1 | c.175-7C>A (n.175-7C>A) c.289-7C>A (n.289-7C>A) c.271-7C>A (n.271-7C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458394C= | CA1881249925 | ASS1 | c.175-7C= (n.175-7C=) c.289-7C= (n.289-7C=) c.271-7C= (n.271-7C=) | |
9 | g.130458394C>G | CA5283189 | ASS1 | c.175-7C>G (n.175-7C>G) c.289-7C>G (n.289-7C>G) c.271-7C>G (n.271-7C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458394C>T | CA1881249926 | ASS1 | c.175-7C>T (n.175-7C>T) c.289-7C>T (n.289-7C>T) c.271-7C>T (n.271-7C>T) | dbSNP |
9 | g.130458395C>G | CA2697558099 | ASS1 | c.175-6C>G (n.175-6C>G) c.289-6C>G (n.289-6C>G) c.271-6C>G (n.271-6C>G) | ClinVar |
9 | g.130458395C>T | CA2692120575 | ASS1 | c.175-6C>T (n.175-6C>T) c.289-6C>T (n.289-6C>T) c.271-6C>T (n.271-6C>T) | gnomAD v4 |
9 | g.130458396C= | CA1881249927 | ASS1 | c.175-5C= (n.175-5C=) c.289-5C= (n.289-5C=) c.271-5C= (n.271-5C=) | |
9 | g.130458396C>G | CA645547250 | ASS1 | c.175-5C>G (n.175-5C>G) c.289-5C>G (n.289-5C>G) c.271-5C>G (n.271-5C>G) | COSMIC |
9 | g.130458396C>T | CA5283190 | ASS1 | c.175-5C>T (n.175-5C>T) c.289-5C>T (n.289-5C>T) c.271-5C>T (n.271-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458397G>A | CA5283191 | ASS1 | c.175-4G>A (n.175-4G>A) c.289-4G>A (n.289-4G>A) c.271-4G>A (n.271-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458397G>C | CA2573144317 | ASS1 | c.175-4G>C (n.175-4G>C) c.289-4G>C (n.289-4G>C) c.271-4G>C (n.271-4G>C) | ClinVar dbSNP |
9 | g.130458397G= | CA1881249928 | ASS1 | c.175-4G= (n.175-4G=) c.289-4G= (n.289-4G=) c.271-4G= (n.271-4G=) | |
9 | g.130458397G>T | CA590945127 | ASS1 | c.175-4G>T (n.175-4G>T) c.289-4G>T (n.289-4G>T) c.271-4G>T (n.271-4G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458398T>C | CA590945128 | ASS1 | c.175-3T>C (n.175-3T>C) c.289-3T>C (n.289-3T>C) c.271-3T>C (n.271-3T>C) | dbSNP gnomAD v2 |
9 | g.130458398T= | CA1881249929 | ASS1 | c.175-3T= (n.175-3T=) c.289-3T= (n.289-3T=) c.271-3T= (n.271-3T=) | |
9 | g.130458399A= | CA1881249930 | ASS1 | c.175-2A= (n.175-2A=) c.289-2A= (n.289-2A=) c.271-2A= (n.271-2A=) | |
9 | g.130458399A>C | CA375224756 | ASS1 | c.175-2A>C (n.175-2A>C) c.289-2A>C (n.289-2A>C) c.271-2A>C (n.271-2A>C) | |
9 | g.130458399A>G | CA375224758 | ASS1 | c.175-2A>G (n.175-2A>G) c.289-2A>G (n.289-2A>G) c.271-2A>G (n.271-2A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.130458399A>T | CA375224760 | ASS1 | c.175-2A>T (n.175-2A>T) c.289-2A>T (n.289-2A>T) c.271-2A>T (n.271-2A>T) | |
9 | g.130458400G>A | CA375224762 | ASS1 | c.175-1G>A (n.175-1G>A) c.289-1G>A (n.289-1G>A) c.271-1G>A (n.271-1G>A) | ClinVar dbSNP |
9 | g.130458400G>C | CA375224764 | ASS1 | c.175-1G>C (n.175-1G>C) c.289-1G>C (n.289-1G>C) c.271-1G>C (n.271-1G>C) | |
9 | g.130458400G= | CA1881249931 | ASS1 | c.175-1G= (n.175-1G=) c.289-1G= (n.289-1G=) c.271-1G= (n.271-1G=) | |
9 | g.130458400G>T | CA375224765 | ASS1 | c.175-1G>T (n.175-1G>T) c.289-1G>T (n.289-1G>T) c.271-1G>T (n.271-1G>T) | ClinVar dbSNP |
9 | g.130458401G>A | CA375224771 | ASS1 | c.175G>A (p.Val59Met) c.289G>A (p.Val97Met) c.271G>A (p.Val91Met) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130458401G>C | CA375224769 | ASS1 | c.175G>C (p.Val59Leu) c.289G>C (p.Val97Leu) c.271G>C (p.Val91Leu) | COSMIC |
9 | g.130458401G= | CA1881249932 | ASS1 | c.175G= (p.Val59=) c.289G= (p.Val97=) c.271G= (p.Val91=) | |
9 | g.130458401G>T | CA375224767 | ASS1 | c.175G>T (p.Val59Leu) c.289G>T (p.Val97Leu) c.271G>T (p.Val91Leu) | |
9 | g.130458402T>A | CA375224773 | ASS1 | c.176T>A (p.Val59Glu) c.290T>A (p.Val97Glu) c.272T>A (p.Val91Glu) | |
9 | g.130458402T>C | CA375224777 | ASS1 | c.176T>C (p.Val59Ala) c.290T>C (p.Val97Ala) c.272T>C (p.Val91Ala) | |
9 | g.130458402T>G | CA375224775 | ASS1 | c.176T>G (p.Val59Gly) c.290T>G (p.Val97Gly) c.272T>G (p.Val91Gly) | |
9 | g.130458403G>A | CA5283192 | ASS1 | c.177G>A (p.Val59=) c.291G>A (p.Val97=) c.273G>A (p.Val91=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130458403G>C | CA467388453 | ASS1 | c.177G>C (p.Val59=) c.291G>C (p.Val97=) c.273G>C (p.Val91=) | |
9 | g.130458403G= | CA1881249933 | ASS1 | c.177G= (p.Val59=) c.291G= (p.Val97=) c.273G= (p.Val91=) | |
9 | g.130458403G>T | CA467388454 | ASS1 | c.177G>T (p.Val59=) c.291G>T (p.Val97=) c.273G>T (p.Val91=) | |
9 | g.130458404T>A | CA375224784 | ASS1 | c.178T>A (p.Phe60Ile) c.292T>A (p.Phe98Ile) c.274T>A (p.Phe92Ile) | gnomAD v4 |
9 | g.130458404T>C | CA375224780 | ASS1 | c.178T>C (p.Phe60Leu) c.292T>C (p.Phe98Leu) c.274T>C (p.Phe92Leu) | |
9 | g.130458404T>G | CA375224782 | ASS1 | c.178T>G (p.Phe60Val) c.292T>G (p.Phe98Val) c.274T>G (p.Phe92Val) | |
9 | g.130458405T>A | CA375224786 | ASS1 | c.179T>A (p.Phe60Tyr) c.293T>A (p.Phe98Tyr) c.275T>A (p.Phe92Tyr) | |
9 | g.130458405T>C | CA375224788 | ASS1 | c.179T>C (p.Phe60Ser) c.293T>C (p.Phe98Ser) c.275T>C (p.Phe92Ser) | |
9 | g.130458405T>G | CA5283193 | ASS1 | c.179T>G (p.Phe60Cys) c.293T>G (p.Phe98Cys) c.275T>G (p.Phe92Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130458405T= | CA1881249934 | ASS1 | c.179T= (p.Phe60=) c.293T= (p.Phe98=) c.275T= (p.Phe92=) | |
9 | g.130458406C>A | CA375224791 | ASS1 | c.180C>A (p.Phe60Leu) c.294C>A (p.Phe98Leu) c.276C>A (p.Phe92Leu) | |
9 | g.130458406C= | CA1881249935 | ASS1 | c.180C= (p.Phe60=) c.294C= (p.Phe98=) c.276C= (p.Phe92=) | |
9 | g.130458406C>G | CA375224793 | ASS1 | c.180C>G (p.Phe60Leu) c.294C>G (p.Phe98Leu) c.276C>G (p.Phe92Leu) | |
9 | g.130458406C>T | CA467388458 | ASS1 | c.180C>T (p.Phe60=) c.294C>T (p.Phe98=) c.276C>T (p.Phe92=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.130458407A= | CA1881249936 | ASS1 | c.181A= (p.Ile61=) c.295A= (p.Ile99=) c.277A= (p.Ile93=) | |
9 | g.130458407A>C | CA375224795 | ASS1 | c.181A>C (p.Ile61Leu) c.295A>C (p.Ile99Leu) c.277A>C (p.Ile93Leu) | |
9 | g.130458407A>G | CA375224797 | ASS1 | c.181A>G (p.Ile61Val) c.295A>G (p.Ile99Val) c.277A>G (p.Ile93Val) | dbSNP |
9 | g.130458407A>T | CA375224799 | ASS1 | c.181A>T (p.Ile61Phe) c.295A>T (p.Ile99Phe) c.277A>T (p.Ile93Phe) | |
9 | g.130458408T>A | CA375224803 | ASS1 | c.182T>A (p.Ile61Asn) c.296T>A (p.Ile99Asn) c.278T>A (p.Ile93Asn) | |
9 | g.130458408T>C | CA5283194 | ASS1 | c.182T>C (p.Ile61Thr) c.296T>C (p.Ile99Thr) c.278T>C (p.Ile93Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458408T>G | CA375224801 | ASS1 | c.182T>G (p.Ile61Ser) c.296T>G (p.Ile99Ser) c.278T>G (p.Ile93Ser) | |
9 | g.130458408T= | CA1881249937 | ASS1 | c.182T= (p.Ile61=) c.296T= (p.Ile99=) c.278T= (p.Ile93=) | |
9 | g.130458409T>A | CA467388463 | ASS1 | c.183T>A (p.Ile61=) c.297T>A (p.Ile99=) c.279T>A (p.Ile93=) | |
9 | g.130458409T>C | CA200607947 | ASS1 | c.183T>C (p.Ile61=) c.297T>C (p.Ile99=) c.279T>C (p.Ile93=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458409T>G | CA375224806 | ASS1 | c.183T>G (p.Ile61Met) c.297T>G (p.Ile99Met) c.279T>G (p.Ile93Met) | |
9 | g.130458409T= | CA1881249938 | ASS1 | c.183T= (p.Ile61=) c.297T= (p.Ile99=) c.279T= (p.Ile93=) | |
9 | g.130458410G>A | CA375224808 | ASS1 | c.184G>A (p.Glu62Lys) c.298G>A (p.Glu100Lys) c.280G>A (p.Glu94Lys) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130458410G>C | CA375224810 | ASS1 | c.184G>C (p.Glu62Gln) c.298G>C (p.Glu100Gln) c.280G>C (p.Glu94Gln) | |
9 | g.130458410G= | CA1881249939 | ASS1 | c.184G= (p.Glu62=) c.298G= (p.Glu100=) c.280G= (p.Glu94=) | |
9 | g.130458410G>T | CA375224812 | ASS1 | c.184G>T (p.Glu62Ter) c.298G>T (p.Glu100Ter) c.280G>T (p.Glu94Ter) | |
9 | g.130458411A>C | CA375224814 | ASS1 | c.185A>C (p.Glu62Ala) c.299A>C (p.Glu100Ala) c.281A>C (p.Glu94Ala) | |
9 | g.130458411A>G | CA375224817 | ASS1 | c.185A>G (p.Glu62Gly) c.299A>G (p.Glu100Gly) c.281A>G (p.Glu94Gly) | |
9 | g.130458411A>T | CA375224819 | ASS1 | c.185A>T (p.Glu62Val) c.299A>T (p.Glu100Val) c.281A>T (p.Glu94Val) | |
9 | g.130458412G>A | CA467388466 | ASS1 | c.186G>A (p.Glu62=) c.300G>A (p.Glu100=) c.282G>A (p.Glu94=) | ClinVar |
9 | g.130458412G>C | CA375224820 | ASS1 | c.186G>C (p.Glu62Asp) c.300G>C (p.Glu100Asp) c.282G>C (p.Glu94Asp) | |
9 | g.130458412G>T | CA375224822 | ASS1 | c.186G>T (p.Glu62Asp) c.300G>T (p.Glu100Asp) c.282G>T (p.Glu94Asp) | |
9 | g.130458413G>A | CA375224824 | ASS1 | c.187G>A (p.Asp63Asn) c.301G>A (p.Asp101Asn) c.283G>A (p.Asp95Asn) | |
9 | g.130458413G>C | CA375224826 | ASS1 | c.187G>C (p.Asp63His) c.301G>C (p.Asp101His) c.283G>C (p.Asp95His) | |
9 | g.130458413G>T | CA375224827 | ASS1 | c.187G>T (p.Asp63Tyr) c.301G>T (p.Asp101Tyr) c.283G>T (p.Asp95Tyr) | |
9 | g.130458413_130458415delinsGAT | CA1881249940 | ASS1 | c.187_189delinsGAT (p.Asp63=) c.301_303delinsGAT (p.Asp101=) c.283_285delinsGAT (p.Asp95=) | |
9 | g.130458414A>C | CA375224832 | ASS1 | c.188A>C (p.Asp63Ala) c.302A>C (p.Asp101Ala) c.284A>C (p.Asp95Ala) | |
9 | g.130458414A>G | CA375224834 | ASS1 | c.188A>G (p.Asp63Gly) c.302A>G (p.Asp101Gly) c.284A>G (p.Asp95Gly) | |
9 | g.130458414A>T | CA375224830 | ASS1 | c.188A>T (p.Asp63Val) c.302A>T (p.Asp101Val) c.284A>T (p.Asp95Val) | |
9 | g.130458414_130458415del | CA590945134 | ASS1 | c.188_189del (p.Asp63GlyfsTer21) c.302_303del (p.Asp101GlyfsTer21) c.284_285del (p.Asp95GlyfsTer21) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.130458415T>A | CA375224835 | ASS1 | c.189T>A (p.Asp63Glu) c.303T>A (p.Asp101Glu) c.285T>A (p.Asp95Glu) | |
9 | g.130458415T>C | CA467388469 | ASS1 | c.189T>C (p.Asp63=) c.303T>C (p.Asp101=) c.285T>C (p.Asp95=) | ClinVar dbSNP |
9 | g.130458415T>G | CA375224837 | ASS1 | c.189T>G (p.Asp63Glu) c.303T>G (p.Asp101Glu) c.285T>G (p.Asp95Glu) | |
9 | g.130458415T= | CA1881249941 | ASS1 | c.189T= (p.Asp63=) c.303T= (p.Asp101=) c.285T= (p.Asp95=) | |
9 | g.130458416G>A | CA5283195 | ASS1 | c.190G>A (p.Val64Ile) c.304G>A (p.Val102Ile) c.286G>A (p.Val96Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458416G>C | CA375224839 | ASS1 | c.190G>C (p.Val64Leu) c.304G>C (p.Val102Leu) c.286G>C (p.Val96Leu) | |
9 | g.130458416G= | CA1881249942 | ASS1 | c.190G= (p.Val64=) c.304G= (p.Val102=) c.286G= (p.Val96=) | |
9 | g.130458416G>T | CA375224841 | ASS1 | c.190G>T (p.Val64Phe) c.304G>T (p.Val102Phe) c.286G>T (p.Val96Phe) | COSMIC |
9 | g.130458417T>A | CA375224843 | ASS1 | c.191T>A (p.Val64Asp) c.305T>A (p.Val102Asp) c.287T>A (p.Val96Asp) | |
9 | g.130458417T>C | CA375224845 | ASS1 | c.191T>C (p.Val64Ala) c.305T>C (p.Val102Ala) c.287T>C (p.Val96Ala) | |
9 | g.130458417T>G | CA375224847 | ASS1 | c.191T>G (p.Val64Gly) c.305T>G (p.Val102Gly) c.287T>G (p.Val96Gly) | |
9 | g.130458418C>A | CA467388474 | ASS1 | c.192C>A (p.Val64=) c.306C>A (p.Val102=) c.288C>A (p.Val96=) | |
9 | g.130458418C>G | CA467388475 | ASS1 | c.192C>G (p.Val64=) c.306C>G (p.Val102=) c.288C>G (p.Val96=) | |
9 | g.130458418C>T | CA467388476 | ASS1 | c.192C>T (p.Val64=) c.306C>T (p.Val102=) c.288C>T (p.Val96=) | gnomAD v4 |
9 | g.130458419A>C | CA375224849 | ASS1 | c.193A>C (p.Ser65Arg) c.307A>C (p.Ser103Arg) c.289A>C (p.Ser97Arg) | |
9 | g.130458419A>G | CA375224851 | ASS1 | c.193A>G (p.Ser65Gly) c.307A>G (p.Ser103Gly) c.289A>G (p.Ser97Gly) | gnomAD v4 |
9 | g.130458419A>T | CA375224853 | ASS1 | c.193A>T (p.Ser65Cys) c.307A>T (p.Ser103Cys) c.289A>T (p.Ser97Cys) | |
9 | g.130458420G>A | CA375224857 | ASS1 | c.194G>A (p.Ser65Asn) c.308G>A (p.Ser103Asn) c.290G>A (p.Ser97Asn) | |
9 | g.130458420G>C | CA375224859 | ASS1 | c.194G>C (p.Ser65Thr) c.308G>C (p.Ser103Thr) c.290G>C (p.Ser97Thr) | |
9 | g.130458420G>T | CA375224855 | ASS1 | c.194G>T (p.Ser65Ile) c.308G>T (p.Ser103Ile) c.290G>T (p.Ser97Ile) | |
9 | g.130458421C>A | CA375224861 | ASS1 | c.195C>A (p.Ser65Arg) c.309C>A (p.Ser103Arg) c.291C>A (p.Ser97Arg) | |
9 | g.130458421C>G | CA375224863 | ASS1 | c.195C>G (p.Ser65Arg) c.309C>G (p.Ser103Arg) c.291C>G (p.Ser97Arg) | |
9 | g.130458421C>T | CA467388478 | ASS1 | c.195C>T (p.Ser65=) c.309C>T (p.Ser103=) c.291C>T (p.Ser97=) | |
9 | g.130458422A>C | CA467388479 | ASS1 | c.196A>C (p.Arg66=) c.310A>C (p.Arg104=) c.292A>C (p.Arg98=) | |
9 | g.130458422A>G | CA375224864 | ASS1 | c.196A>G (p.Arg66Gly) c.310A>G (p.Arg104Gly) c.292A>G (p.Arg98Gly) | |
9 | g.130458422A>T | CA375224865 | ASS1 | c.196A>T (p.Arg66Trp) c.310A>T (p.Arg104Trp) c.292A>T (p.Arg98Trp) | |
9 | g.130458423G>A | CA375224871 | ASS1 | c.197G>A (p.Arg66Lys) c.311G>A (p.Arg104Lys) c.293G>A (p.Arg98Lys) | dbSNP |
9 | g.130458423G>C | CA375224869 | ASS1 | c.197G>C (p.Arg66Thr) c.311G>C (p.Arg104Thr) c.293G>C (p.Arg98Thr) | |
9 | g.130458423G>T | CA375224867 | ASS1 | c.197G>T (p.Arg66Met) c.311G>T (p.Arg104Met) c.293G>T (p.Arg98Met) | |
9 | g.130458424G>A | CA5283196 | ASS1 | c.198G>A (p.Arg66=) c.312G>A (p.Arg104=) c.294G>A (p.Arg98=) | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
9 | g.130458424G>C | CA375224874 | ASS1 | c.198G>C (p.Arg66Ser) c.312G>C (p.Arg104Ser) c.294G>C (p.Arg98Ser) | |
9 | g.130458424G= | CA1881249943 | ASS1 | c.198G= (p.Arg66=) c.312G= (p.Arg104=) c.294G= (p.Arg98=) | |
9 | g.130458424G>T | CA375224876 | ASS1 | c.198G>T (p.Arg66Ser) c.312G>T (p.Arg104Ser) c.294G>T (p.Arg98Ser) | |
9 | g.130458425G>A | CA375224878 | ASS1 | c.199G>A (p.Glu67Lys) c.313G>A (p.Glu105Lys) c.295G>A (p.Glu99Lys) | ClinVar dbSNP |
9 | g.130458425G>C | CA375224880 | ASS1 | c.199G>C (p.Glu67Gln) c.313G>C (p.Glu105Gln) c.295G>C (p.Glu99Gln) | |
9 | g.130458425G= | CA1881249944 | ASS1 | c.199G= (p.Glu67=) c.313G= (p.Glu105=) c.295G= (p.Glu99=) | |
9 | g.130458425G>T | CA375224882 | ASS1 | c.199G>T (p.Glu67Ter) c.313G>T (p.Glu105Ter) c.295G>T (p.Glu99Ter) | ClinVar |
9 | g.130458426A>C | CA375224888 | ASS1 | c.200A>C (p.Glu67Ala) c.314A>C (p.Glu105Ala) c.296A>C (p.Glu99Ala) | |
9 | g.130458426A>G | CA375224886 | ASS1 | c.200A>G (p.Glu67Gly) c.314A>G (p.Glu105Gly) c.296A>G (p.Glu99Gly) | |
9 | g.130458426A>T | CA375224884 | ASS1 | c.200A>T (p.Glu67Val) c.314A>T (p.Glu105Val) c.296A>T (p.Glu99Val) | |
9 | g.130458427G>A | CA467388480 | ASS1 | c.201G>A (p.Glu67=) c.315G>A (p.Glu105=) c.297G>A (p.Glu99=) | |
9 | g.130458427G>C | CA375224890 | ASS1 | c.201G>C (p.Glu67Asp) c.315G>C (p.Glu105Asp) c.297G>C (p.Glu99Asp) | |
9 | g.130458427G>T | CA375224892 | ASS1 | c.201G>T (p.Glu67Asp) c.315G>T (p.Glu105Asp) c.297G>T (p.Glu99Asp) | gnomAD v4 |
9 | g.130458428T>A | CA375224894 | ASS1 | c.202T>A (p.Phe68Ile) c.316T>A (p.Phe106Ile) c.298T>A (p.Phe100Ile) | |
9 | g.130458428T>C | CA375224896 | ASS1 | c.202T>C (p.Phe68Leu) c.316T>C (p.Phe106Leu) c.298T>C (p.Phe100Leu) | |
9 | g.130458428T>G | CA375224898 | ASS1 | c.202T>G (p.Phe68Val) c.316T>G (p.Phe106Val) c.298T>G (p.Phe100Val) | |
9 | g.130458429T>A | CA375224900 | ASS1 | c.203T>A (p.Phe68Tyr) c.317T>A (p.Phe106Tyr) c.299T>A (p.Phe100Tyr) | |
9 | g.130458429T>C | CA375224902 | ASS1 | c.203T>C (p.Phe68Ser) c.317T>C (p.Phe106Ser) c.299T>C (p.Phe100Ser) | gnomAD v4 |
9 | g.130458429T>G | CA375224904 | ASS1 | c.203T>G (p.Phe68Cys) c.317T>G (p.Phe106Cys) c.299T>G (p.Phe100Cys) | |
9 | g.130458430T>A | CA375224906 | ASS1 | c.204T>A (p.Phe68Leu) c.318T>A (p.Phe106Leu) c.300T>A (p.Phe100Leu) | |
9 | g.130458430T>C | CA467388481 | ASS1 | c.204T>C (p.Phe68=) c.318T>C (p.Phe106=) c.300T>C (p.Phe100=) | |
9 | g.130458430T>G | CA375224908 | ASS1 | c.204T>G (p.Phe68Leu) c.318T>G (p.Phe106Leu) c.300T>G (p.Phe100Leu) | |
9 | g.130458431G>A | CA375224911 | ASS1 | c.205G>A (p.Val69Met) c.319G>A (p.Val107Met) c.301G>A (p.Val101Met) | |
9 | g.130458431G>C | CA375224912 | ASS1 | c.205G>C (p.Val69Leu) c.319G>C (p.Val107Leu) c.301G>C (p.Val101Leu) | |
9 | g.130458431G>T | CA375224914 | ASS1 | c.205G>T (p.Val69Leu) c.319G>T (p.Val107Leu) c.301G>T (p.Val101Leu) | gnomAD v4 |
9 | g.130458432T>A | CA375224919 | ASS1 | c.206T>A (p.Val69Glu) c.320T>A (p.Val107Glu) c.302T>A (p.Val101Glu) | |
9 | g.130458432T>C | CA5283197 | ASS1 | c.206T>C (p.Val69Ala) c.320T>C (p.Val107Ala) c.302T>C (p.Val101Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130458432T>G | CA375224916 | ASS1 | c.206T>G (p.Val69Gly) c.320T>G (p.Val107Gly) c.302T>G (p.Val101Gly) | |
9 | g.130458432T= | CA1881249945 | ASS1 | c.206T= (p.Val69=) c.320T= (p.Val107=) c.302T= (p.Val101=) | |
9 | g.130458433G>A | CA467388482 | ASS1 | c.207G>A (p.Val69=) c.321G>A (p.Val107=) c.303G>A (p.Val101=) | ClinVar dbSNP gnomAD v4 |
9 | g.130458433G>C | CA467388483 | ASS1 | c.207G>C (p.Val69=) c.321G>C (p.Val107=) c.303G>C (p.Val101=) | |
9 | g.130458433G>T | CA467388484 | ASS1 | c.207G>T (p.Val69=) c.321G>T (p.Val107=) c.303G>T (p.Val101=) | |
9 | g.130458434G>A | CA375224921 | ASS1 | c.208G>A (p.Glu70Lys) c.322G>A (p.Glu108Lys) c.304G>A (p.Glu102Lys) | |
9 | g.130458434G>C | CA375224924 | ASS1 | c.208G>C (p.Glu70Gln) c.322G>C (p.Glu108Gln) c.304G>C (p.Glu102Gln) | |
9 | g.130458434G>T | CA375224926 | ASS1 | c.208G>T (p.Glu70Ter) c.322G>T (p.Glu108Ter) c.304G>T (p.Glu102Ter) | |
9 | g.130458435A>C | CA375224928 | ASS1 | c.209A>C (p.Glu70Ala) c.323A>C (p.Glu108Ala) c.305A>C (p.Glu102Ala) | |
9 | g.130458435A>G | CA375224930 | ASS1 | c.209A>G (p.Glu70Gly) c.323A>G (p.Glu108Gly) c.305A>G (p.Glu102Gly) | |
9 | g.130458435A>T | CA375224932 | ASS1 | c.209A>T (p.Glu70Val) c.323A>T (p.Glu108Val) c.305A>T (p.Glu102Val) | |
9 | g.130458436G>A | CA467388485 | ASS1 | c.210G>A (p.Glu70=) c.324G>A (p.Glu108=) c.306G>A (p.Glu102=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458436G>C | CA375224934 | ASS1 | c.210G>C (p.Glu70Asp) c.324G>C (p.Glu108Asp) c.306G>C (p.Glu102Asp) | |
9 | g.130458436G= | CA1881249946 | ASS1 | c.210G= (p.Glu70=) c.324G= (p.Glu108=) c.306G= (p.Glu102=) | |
9 | g.130458436G>T | CA375224937 | ASS1 | c.210G>T (p.Glu70Asp) c.324G>T (p.Glu108Asp) c.306G>T (p.Glu102Asp) | |
9 | g.130458437dup | CA2692120643 | ASS1 | c.211dup (p.Glu71GlyfsTer14) c.325dup (p.Glu109GlyfsTer14) c.307dup (p.Glu103GlyfsTer14) | gnomAD v4 |
9 | g.130458437G>A | CA375224939 | ASS1 | c.211G>A (p.Glu71Lys) c.325G>A (p.Glu109Lys) c.307G>A (p.Glu103Lys) | |
9 | g.130458437G>C | CA375224941 | ASS1 | c.211G>C (p.Glu71Gln) c.325G>C (p.Glu109Gln) c.307G>C (p.Glu103Gln) | |
9 | g.130458437G>T | CA375224943 | ASS1 | c.211G>T (p.Glu71Ter) c.325G>T (p.Glu109Ter) c.307G>T (p.Glu103Ter) | |
9 | g.130458438A>C | CA375224946 | ASS1 | c.212A>C (p.Glu71Ala) c.326A>C (p.Glu109Ala) c.308A>C (p.Glu103Ala) | gnomAD v4 |
9 | g.130458438A>G | CA375224948 | ASS1 | c.212A>G (p.Glu71Gly) c.326A>G (p.Glu109Gly) c.308A>G (p.Glu103Gly) | |
9 | g.130458438A>T | CA375224950 | ASS1 | c.212A>T (p.Glu71Val) c.326A>T (p.Glu109Val) c.308A>T (p.Glu103Val) | |
9 | g.130458439G>A | CA5283198 | ASS1 | c.213G>A (p.Glu71=) c.327G>A (p.Glu109=) c.309G>A (p.Glu103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130458439G>C | CA375224955 | ASS1 | c.213G>C (p.Glu71Asp) c.327G>C (p.Glu109Asp) c.309G>C (p.Glu103Asp) | |
9 | g.130458439G= | CA1881249947 | ASS1 | c.213G= (p.Glu71=) c.327G= (p.Glu109=) c.309G= (p.Glu103=) | |
9 | g.130458439G>T | CA375224952 | ASS1 | c.213G>T (p.Glu71Asp) c.327G>T (p.Glu109Asp) c.309G>T (p.Glu103Asp) | |
9 | g.130458440T>A | CA375224957 | ASS1 | c.214T>A (p.Phe72Ile) c.328T>A (p.Phe110Ile) c.310T>A (p.Phe104Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.130458440T>C | CA375224959 | ASS1 | c.214T>C (p.Phe72Leu) c.328T>C (p.Phe110Leu) c.310T>C (p.Phe104Leu) | |
9 | g.130458440T>G | CA375224961 | ASS1 | c.214T>G (p.Phe72Val) c.328T>G (p.Phe110Val) c.310T>G (p.Phe104Val) | |
9 | g.130458440T= | CA1881249948 | ASS1 | c.214T= (p.Phe72=) c.328T= (p.Phe110=) c.310T= (p.Phe104=) | |
9 | g.130458441T>A | CA375224963 | ASS1 | c.215T>A (p.Phe72Tyr) c.329T>A (p.Phe110Tyr) c.311T>A (p.Phe104Tyr) | |
9 | g.130458441T>C | CA375224965 | ASS1 | c.215T>C (p.Phe72Ser) c.329T>C (p.Phe110Ser) c.311T>C (p.Phe104Ser) | |
9 | g.130458441T>G | CA375224967 | ASS1 | c.215T>G (p.Phe72Cys) c.329T>G (p.Phe110Cys) c.311T>G (p.Phe104Cys) | |
9 | g.130458442C>A | CA375224969 | ASS1 | c.216C>A (p.Phe72Leu) c.330C>A (p.Phe110Leu) c.312C>A (p.Phe104Leu) | |
9 | g.130458442C= | CA1881249949 | ASS1 | c.216C= (p.Phe72=) c.330C= (p.Phe110=) c.312C= (p.Phe104=) | |
9 | g.130458442C>G | CA375224971 | ASS1 | c.216C>G (p.Phe72Leu) c.330C>G (p.Phe110Leu) c.312C>G (p.Phe104Leu) | ClinVar dbSNP |
9 | g.130458442C>T | CA467388486 | ASS1 | c.216C>T (p.Phe72=) c.330C>T (p.Phe110=) c.312C>T (p.Phe104=) | COSMIC |
9 | g.130458443A>C | CA375224973 | ASS1 | c.217A>C (p.Ile73Leu) c.331A>C (p.Ile111Leu) c.313A>C (p.Ile105Leu) | |
9 | g.130458443A>G | CA375224975 | ASS1 | c.217A>G (p.Ile73Val) c.331A>G (p.Ile111Val) c.313A>G (p.Ile105Val) | |
9 | g.130458443A>T | CA375224977 | ASS1 | c.217A>T (p.Ile73Phe) c.331A>T (p.Ile111Phe) c.313A>T (p.Ile105Phe) | |
9 | g.130458444T>A | CA375224982 | ASS1 | c.218T>A (p.Ile73Asn) c.332T>A (p.Ile111Asn) c.314T>A (p.Ile105Asn) | |
9 | g.130458444T>C | CA375224980 | ASS1 | c.218T>C (p.Ile73Thr) c.332T>C (p.Ile111Thr) c.314T>C (p.Ile105Thr) | |
9 | g.130458444T>G | CA375224978 | ASS1 | c.218T>G (p.Ile73Ser) c.332T>G (p.Ile111Ser) c.314T>G (p.Ile105Ser) | |
9 | g.130458445C>A | CA467388487 | ASS1 | c.219C>A (p.Ile73=) c.333C>A (p.Ile111=) c.315C>A (p.Ile105=) | |
9 | g.130458445C>G | CA375224984 | ASS1 | c.219C>G (p.Ile73Met) c.333C>G (p.Ile111Met) c.315C>G (p.Ile105Met) | |
9 | g.130458445C>T | CA467388488 | ASS1 | c.219C>T (p.Ile73=) c.333C>T (p.Ile111=) c.315C>T (p.Ile105=) | |
9 | g.130458446T>A | CA375224986 | ASS1 | c.220T>A (p.Trp74Arg) c.334T>A (p.Trp112Arg) c.316T>A (p.Trp106Arg) | |
9 | g.130458446T>C | CA375224988 | ASS1 | c.220T>C (p.Trp74Arg) c.334T>C (p.Trp112Arg) c.316T>C (p.Trp106Arg) | |
9 | g.130458446T>G | CA375224990 | ASS1 | c.220T>G (p.Trp74Gly) c.334T>G (p.Trp112Gly) c.316T>G (p.Trp106Gly) | |
9 | g.130458447G>A | CA375224992 | ASS1 | c.221G>A (p.Trp74Ter) c.335G>A (p.Trp112Ter) c.317G>A (p.Trp106Ter) | |
9 | g.130458447G>C | CA375224994 | ASS1 | c.221G>C (p.Trp74Ser) c.335G>C (p.Trp112Ser) c.317G>C (p.Trp106Ser) | |
9 | g.130458447G>T | CA375224996 | ASS1 | c.221G>T (p.Trp74Leu) c.335G>T (p.Trp112Leu) c.317G>T (p.Trp106Leu) | |
9 | g.130458448G>A | CA375224998 | ASS1 | c.222G>A (p.Trp74Ter) c.336G>A (p.Trp112Ter) c.318G>A (p.Trp106Ter) | ClinVar gnomAD v4 |
9 | g.130458448G>C | CA375225000 | ASS1 | c.222G>C (p.Trp74Cys) c.336G>C (p.Trp112Cys) c.318G>C (p.Trp106Cys) | |
9 | g.130458448G>T | CA375225002 | ASS1 | c.222G>T (p.Trp74Cys) c.336G>T (p.Trp112Cys) c.318G>T (p.Trp106Cys) | |
9 | g.130458449C>A | CA375225004 | ASS1 | c.223C>A (p.Pro75Thr) c.337C>A (p.Pro113Thr) c.319C>A (p.Pro107Thr) | |
9 | g.130458449C>G | CA375225006 | ASS1 | c.223C>G (p.Pro75Ala) c.337C>G (p.Pro113Ala) c.319C>G (p.Pro107Ala) | |
9 | g.130458449C>T | CA375225007 | ASS1 | c.223C>T (p.Pro75Ser) c.337C>T (p.Pro113Ser) c.319C>T (p.Pro107Ser) | |
9 | g.130458450C>A | CA375225011 | ASS1 | c.224C>A (p.Pro75Gln) c.338C>A (p.Pro113Gln) c.320C>A (p.Pro107Gln) | |
9 | g.130458450C= | CA1881249951 | ASS1 | c.224C= (p.Pro75=) c.338C= (p.Pro113=) c.320C= (p.Pro107=) | |
9 | g.130458450C>G | CA375225013 | ASS1 | c.224C>G (p.Pro75Arg) c.338C>G (p.Pro113Arg) c.320C>G (p.Pro107Arg) | |
9 | g.130458450C>T | CA5283199 | ASS1 | c.224C>T (p.Pro75Leu) c.338C>T (p.Pro113Leu) c.320C>T (p.Pro107Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130458450_130458451delinsCG | CA1881249950 | ASS1 | c.224_225delinsCG (p.Pro75=) c.338_339delinsCG (p.Pro113=) c.320_321delinsCG (p.Pro107=) | |
9 | g.130458451G>A | CA5283200 | ASS1 | c.225G>A (p.Pro75=) c.339G>A (p.Pro113=) c.321G>A (p.Pro107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458451G>C | CA467388489 | ASS1 | c.225G>C (p.Pro75=) c.339G>C (p.Pro113=) c.321G>C (p.Pro107=) | dbSNP |
9 | g.130458451G= | CA1881249952 | ASS1 | c.225G= (p.Pro75=) c.339G= (p.Pro113=) c.321G= (p.Pro107=) | |
9 | g.130458451G>T | CA467388490 | ASS1 | c.225G>T (p.Pro75=) c.339G>T (p.Pro113=) c.321G>T (p.Pro107=) | |
9 | g.130458452del | CA16041298 | ASS1 | c.226del (p.Ala76ProfsTer?) c.340del (p.Ala114ProfsTer?) c.322del (p.Ala108ProfsTer?) | ClinVar dbSNP |
9 | g.130458452G>A | CA375225017 | ASS1 | c.226G>A (p.Ala76Thr) c.340G>A (p.Ala114Thr) c.322G>A (p.Ala108Thr) | |
9 | g.130458452G>C | CA375225018 | ASS1 | c.226G>C (p.Ala76Pro) c.340G>C (p.Ala114Pro) c.322G>C (p.Ala108Pro) | |
9 | g.130458452G>T | CA375225020 | ASS1 | c.226G>T (p.Ala76Ser) c.340G>T (p.Ala114Ser) c.322G>T (p.Ala108Ser) | gnomAD v4 |
9 | g.130458453C>A | CA375225022 | ASS1 | c.227C>A (p.Ala76Asp) c.341C>A (p.Ala114Asp) c.323C>A (p.Ala108Asp) | |
9 | g.130458453C>G | CA375225024 | ASS1 | c.227C>G (p.Ala76Gly) c.341C>G (p.Ala114Gly) c.323C>G (p.Ala108Gly) | |
9 | g.130458453C>T | CA375225025 | ASS1 | c.227C>T (p.Ala76Val) c.341C>T (p.Ala114Val) c.323C>T (p.Ala108Val) | gnomAD v4 |
9 | g.130458454C>A | CA467388493 | ASS1 | c.228C>A (p.Ala76=) c.342C>A (p.Ala114=) c.324C>A (p.Ala108=) | |
9 | g.130458454C= | CA1881249953 | ASS1 | c.228C= (p.Ala76=) c.342C= (p.Ala114=) c.324C= (p.Ala108=) | |
9 | g.130458454C>G | CA467388491 | ASS1 | c.228C>G (p.Ala76=) c.342C>G (p.Ala114=) c.324C>G (p.Ala108=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130458454C>T | CA467388492 | ASS1 | c.228C>T (p.Ala76=) c.342C>T (p.Ala114=) c.324C>T (p.Ala108=) | |
9 | g.130458455A= | CA1881249954 | ASS1 | c.229A= (p.Ile77=) c.343A= (p.Ile115=) c.325A= (p.Ile109=) | |
9 | g.130458455A>C | CA375225028 | ASS1 | c.229A>C (p.Ile77Leu) c.343A>C (p.Ile115Leu) c.325A>C (p.Ile109Leu) | |
9 | g.130458455A>G | CA375225030 | ASS1 | c.229A>G (p.Ile77Val) c.343A>G (p.Ile115Val) c.325A>G (p.Ile109Val) | dbSNP |
9 | g.130458455A>T | CA5283201 | ASS1 | c.229A>T (p.Ile77Phe) c.343A>T (p.Ile115Phe) c.325A>T (p.Ile109Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130458456T>A | CA375225032 | ASS1 | c.230T>A (p.Ile77Asn) c.344T>A (p.Ile115Asn) c.326T>A (p.Ile109Asn) | |
9 | g.130458456T>C | CA375225035 | ASS1 | c.230T>C (p.Ile77Thr) c.344T>C (p.Ile115Thr) c.326T>C (p.Ile109Thr) | |
9 | g.130458456T>G | CA375225037 | ASS1 | c.230T>G (p.Ile77Ser) c.344T>G (p.Ile115Ser) c.326T>G (p.Ile109Ser) | gnomAD v4 |
9 | g.130458457C>A | CA467388494 | ASS1 | c.231C>A (p.Ile77=) c.345C>A (p.Ile115=) c.327C>A (p.Ile109=) | |
9 | g.130458457C>G | CA375225039 | ASS1 | c.231C>G (p.Ile77Met) c.345C>G (p.Ile115Met) c.327C>G (p.Ile109Met) | ClinVar |
9 | g.130458457C>T | CA467388495 | ASS1 | c.231C>T (p.Ile77=) c.345C>T (p.Ile115=) c.327C>T (p.Ile109=) | |
9 | g.130458458C>A | CA375225045 | ASS1 | c.232C>A (p.Gln78Lys) c.346C>A (p.Gln116Lys) c.328C>A (p.Gln110Lys) | |
9 | g.130458458C>G | CA375225042 | ASS1 | c.232C>G (p.Gln78Glu) c.346C>G (p.Gln116Glu) c.328C>G (p.Gln110Glu) | |
9 | g.130458458C>T | CA375225043 | ASS1 | c.232C>T (p.Gln78Ter) c.346C>T (p.Gln116Ter) c.328C>T (p.Gln110Ter) | |
9 | g.130458459A>C | CA375225048 | ASS1 | c.233A>C (p.Gln78Pro) c.347A>C (p.Gln116Pro) c.329A>C (p.Gln110Pro) | |
9 | g.130458459A>G | CA375225049 | ASS1 | c.233A>G (p.Gln78Arg) c.347A>G (p.Gln116Arg) c.329A>G (p.Gln110Arg) | |
9 | g.130458459A>T | CA375225051 | ASS1 | c.233A>T (p.Gln78Leu) c.347A>T (p.Gln116Leu) c.329A>T (p.Gln110Leu) | |
9 | g.130458460G>A | CA5283202 | ASS1 | c.234G>A (p.Gln78=) c.348G>A (p.Gln116=) c.330G>A (p.Gln110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.130458460G>C | CA375225054 | ASS1 | c.234G>C (p.Gln78His) c.348G>C (p.Gln116His) c.330G>C (p.Gln110His) | |
9 | g.130458460G= | CA1881249955 | ASS1 | c.234G= (p.Gln78=) c.348G= (p.Gln116=) c.330G= (p.Gln110=) | |
9 | g.130458460G>T | CA375225056 | ASS1 | c.234G>T (p.Gln78His) c.348G>T (p.Gln116His) c.330G>T (p.Gln110His) | |
9 | g.130458461T>A | CA375225058 | ASS1 | c.235T>A (p.Ser79Thr) c.349T>A (p.Ser117Thr) c.331T>A (p.Ser111Thr) | |
9 | g.130458461T>C | CA375225060 | ASS1 | c.235T>C (p.Ser79Pro) c.349T>C (p.Ser117Pro) c.331T>C (p.Ser111Pro) | |
9 | g.130458461T>G | CA375225062 | ASS1 | c.235T>G (p.Ser79Ala) c.349T>G (p.Ser117Ala) c.331T>G (p.Ser111Ala) | |
9 | g.130458462C>A | CA375225064 | ASS1 | c.236C>A (p.Ser79Tyr) c.350C>A (p.Ser117Tyr) c.332C>A (p.Ser111Tyr) | gnomAD v4 |
9 | g.130458462C>G | CA375225066 | ASS1 | c.236C>G (p.Ser79Cys) c.350C>G (p.Ser117Cys) c.332C>G (p.Ser111Cys) | |
9 | g.130458462C>T | CA375225068 | ASS1 | c.236C>T (p.Ser79Phe) c.350C>T (p.Ser117Phe) c.332C>T (p.Ser111Phe) | |
9 | g.130458463C>A | CA467388496 | ASS1 | c.237C>A (p.Ser79=) c.351C>A (p.Ser117=) c.333C>A (p.Ser111=) | |
9 | g.130458463C= | CA1881249956 | ASS1 | c.237C= (p.Ser79=) c.351C= (p.Ser117=) c.333C= (p.Ser111=) | |
9 | g.130458463C>G | CA467388497 | ASS1 | c.237C>G (p.Ser79=) c.351C>G (p.Ser117=) c.333C>G (p.Ser111=) | |
9 | g.130458463C>T | CA5283203 | ASS1 | c.237C>T (p.Ser79=) c.351C>T (p.Ser117=) c.333C>T (p.Ser111=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130458464A>C | CA375225075 | ASS1 | c.238A>C (p.Ser80Arg) c.352A>C (p.Ser118Arg) c.334A>C (p.Ser112Arg) | |
9 | g.130458464A>G | CA375225072 | ASS1 | c.238A>G (p.Ser80Gly) c.352A>G (p.Ser118Gly) c.334A>G (p.Ser112Gly) | |
9 | g.130458464A>T | CA375225073 | ASS1 | c.238A>T (p.Ser80Cys) c.352A>T (p.Ser118Cys) c.334A>T (p.Ser112Cys) | |
9 | g.130458465G>A | CA375225078 | ASS1 | c.239G>A (p.Ser80Asn) c.353G>A (p.Ser118Asn) c.335G>A (p.Ser112Asn) | |
9 | g.130458465G>C | CA375225079 | ASS1 | c.239G>C (p.Ser80Thr) c.353G>C (p.Ser118Thr) c.335G>C (p.Ser112Thr) | |
9 | g.130458465G>T | CA375225081 | ASS1 | c.239G>T (p.Ser80Ile) c.353G>T (p.Ser118Ile) c.335G>T (p.Ser112Ile) | |
9 | g.130458467_130458468del | CA2697558100 | ASS1 | c.241_242del (p.Ala81ThrfsTer3) c.355_356del (p.Ala119ThrfsTer3) c.337_338del (p.Ala113ThrfsTer3) | ClinVar |
9 | g.130458466C>A | CA375225083 | ASS1 | c.240C>A (p.Ser80Arg) c.354C>A (p.Ser118Arg) c.336C>A (p.Ser112Arg) | COSMIC |
9 | g.130458466C= | CA1881249957 | ASS1 | c.240C= (p.Ser80=) c.354C= (p.Ser118=) c.336C= (p.Ser112=) | |
9 | g.130458466C>G | CA375225085 | ASS1 | c.240C>G (p.Ser80Arg) c.354C>G (p.Ser118Arg) c.336C>G (p.Ser112Arg) | |
9 | g.130458466C>T | CA5283204 | ASS1 | c.240C>T (p.Ser80=) c.354C>T (p.Ser118=) c.336C>T (p.Ser112=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458467G>A | CA5283205 | ASS1 | c.241G>A (p.Ala81Thr) c.355G>A (p.Ala119Thr) c.337G>A (p.Ala113Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458467G>C | CA375225088 | ASS1 | c.241G>C (p.Ala81Pro) c.355G>C (p.Ala119Pro) c.337G>C (p.Ala113Pro) | |
9 | g.130458467G= | CA1881249958 | ASS1 | c.241G= (p.Ala81=) c.355G= (p.Ala119=) c.337G= (p.Ala113=) | |
9 | g.130458467G>T | CA375225090 | ASS1 | c.241G>T (p.Ala81Ser) c.355G>T (p.Ala119Ser) c.337G>T (p.Ala113Ser) | |
9 | g.130458468C>A | CA375225093 | ASS1 | c.242C>A (p.Ala81Glu) c.356C>A (p.Ala119Glu) c.338C>A (p.Ala113Glu) | |
9 | g.130458468C= | CA1881249959 | ASS1 | c.242C= (p.Ala81=) c.356C= (p.Ala119=) c.338C= (p.Ala113=) | |
9 | g.130458468C>G | CA375225095 | ASS1 | c.242C>G (p.Ala81Gly) c.356C>G (p.Ala119Gly) c.338C>G (p.Ala113Gly) | |
9 | g.130458468C>T | CA5283206 | ASS1 | c.242C>T (p.Ala81Val) c.356C>T (p.Ala119Val) c.338C>T (p.Ala113Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130458469A>C | CA467388499 | ASS1 | c.243A>C (p.Ala81=) c.357A>C (p.Ala119=) c.339A>C (p.Ala113=) | |
9 | g.130458469A>G | CA467388500 | ASS1 | c.243A>G (p.Ala81=) c.357A>G (p.Ala119=) c.339A>G (p.Ala113=) | gnomAD v4 |
9 | g.130458469A>T | CA467388498 | ASS1 | c.243A>T (p.Ala81=) c.357A>T (p.Ala119=) c.339A>T (p.Ala113=) | |
9 | g.130458470C>A | CA375225098 | ASS1 | c.244C>A (p.Leu82Met) c.358C>A (p.Leu120Met) c.340C>A (p.Leu114Met) | gnomAD v4 |
9 | g.130458470C>G | CA375225100 | ASS1 | c.244C>G (p.Leu82Val) c.358C>G (p.Leu120Val) c.340C>G (p.Leu114Val) | |
9 | g.130458470C>T | CA467388501 | ASS1 | c.244C>T (p.Leu82=) c.358C>T (p.Leu120=) c.340C>T (p.Leu114=) | |
9 | g.130458471T>A | CA375225105 | ASS1 | c.245T>A (p.Leu82Gln) c.359T>A (p.Leu120Gln) c.341T>A (p.Leu114Gln) | |
9 | g.130458471T>C | CA5283207 | ASS1 | c.245T>C (p.Leu82Pro) c.359T>C (p.Leu120Pro) c.341T>C (p.Leu114Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458471T>G | CA375225103 | ASS1 | c.245T>G (p.Leu82Arg) c.359T>G (p.Leu120Arg) c.341T>G (p.Leu114Arg) | |
9 | g.130458471T= | CA1881249960 | ASS1 | c.245T= (p.Leu82=) c.359T= (p.Leu120=) c.341T= (p.Leu114=) | |
9 | g.130458472del | CA2695199419 | ASS1 | c.246del (p.Tyr83MetfsTer?) c.360del (p.Tyr121MetfsTer?) c.342del (p.Tyr115MetfsTer?) | ClinVar |
9 | g.130458472G>A | CA5283208 | ASS1 | c.246G>A (p.Leu82=) c.360G>A (p.Leu120=) c.342G>A (p.Leu114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458472G>C | CA467388502 | ASS1 | c.246G>C (p.Leu82=) c.360G>C (p.Leu120=) c.342G>C (p.Leu114=) | |
9 | g.130458472G= | CA1881249961 | ASS1 | c.246G= (p.Leu82=) c.360G= (p.Leu120=) c.342G= (p.Leu114=) | |
9 | g.130458472G>T | CA467388503 | ASS1 | c.246G>T (p.Leu82=) c.360G>T (p.Leu120=) c.342G>T (p.Leu114=) | |
9 | g.130458473T>A | CA375225108 | ASS1 | c.247T>A (p.Tyr83Asn) c.361T>A (p.Tyr121Asn) c.343T>A (p.Tyr115Asn) | |
9 | g.130458473T>C | CA5283209 | ASS1 | c.247T>C (p.Tyr83His) c.361T>C (p.Tyr121His) c.343T>C (p.Tyr115His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458473T>G | CA375225111 | ASS1 | c.247T>G (p.Tyr83Asp) c.361T>G (p.Tyr121Asp) c.343T>G (p.Tyr115Asp) | |
9 | g.130458473T= | CA1881249962 | ASS1 | c.247T= (p.Tyr83=) c.361T= (p.Tyr121=) c.343T= (p.Tyr115=) | |
9 | g.130458474A>C | CA375225114 | ASS1 | c.248A>C (p.Tyr83Ser) c.362A>C (p.Tyr121Ser) c.344A>C (p.Tyr115Ser) | |
9 | g.130458474A>G | CA375225116 | ASS1 | c.248A>G (p.Tyr83Cys) c.362A>G (p.Tyr121Cys) c.344A>G (p.Tyr115Cys) | |
9 | g.130458474A>T | CA375225117 | ASS1 | c.248A>T (p.Tyr83Phe) c.362A>T (p.Tyr121Phe) c.344A>T (p.Tyr115Phe) | |
9 | g.130458475T>A | CA375225118 | ASS1 | c.249T>A (p.Tyr83Ter) c.363T>A (p.Tyr121Ter) c.345T>A (p.Tyr115Ter) | |
9 | g.130458475T>C | CA467388504 | ASS1 | c.249T>C (p.Tyr83=) c.363T>C (p.Tyr121=) c.345T>C (p.Tyr115=) | |
9 | g.130458475T>G | CA375225120 | ASS1 | c.249T>G (p.Tyr83Ter) c.363T>G (p.Tyr121Ter) c.345T>G (p.Tyr115Ter) | |
9 | g.130458476G>A | CA375225122 | ASS1 | c.250G>A (p.Glu84Lys) c.364G>A (p.Glu122Lys) c.346G>A (p.Glu116Lys) | ClinVar dbSNP |
9 | g.130458476G>C | CA375225124 | ASS1 | c.250G>C (p.Glu84Gln) c.364G>C (p.Glu122Gln) c.346G>C (p.Glu116Gln) | |
9 | g.130458476G= | CA1881249963 | ASS1 | c.250G= (p.Glu84=) c.364G= (p.Glu122=) c.346G= (p.Glu116=) | |
9 | g.130458476G>T | CA375225126 | ASS1 | c.250G>T (p.Glu84Ter) c.364G>T (p.Glu122Ter) c.346G>T (p.Glu116Ter) | |
9 | g.130458477A>C | CA375225128 | ASS1 | c.251A>C (p.Glu84Ala) c.365A>C (p.Glu122Ala) c.347A>C (p.Glu116Ala) | |
9 | g.130458477A>G | CA375225131 | ASS1 | c.251A>G (p.Glu84Gly) c.365A>G (p.Glu122Gly) c.347A>G (p.Glu116Gly) | |
9 | g.130458477A>T | CA375225129 | ASS1 | c.251A>T (p.Glu84Val) c.365A>T (p.Glu122Val) c.347A>T (p.Glu116Val) | |
9 | g.130458478G>A | CA467388505 | ASS1 | c.252G>A (p.Glu84=) c.366G>A (p.Glu122=) c.348G>A (p.Glu116=) | gnomAD v4 |
9 | g.130458478G>C | CA375225133 | ASS1 | c.252G>C (p.Glu84Asp) c.366G>C (p.Glu122Asp) c.348G>C (p.Glu116Asp) | |
9 | g.130458478G>T | CA375225135 | ASS1 | c.252G>T (p.Glu84Asp) c.366G>T (p.Glu122Asp) c.348G>T (p.Glu116Asp) | |
9 | g.130458479G>A | CA375225138 | ASS1 | c.253G>A (p.Asp85Asn) c.367G>A (p.Asp123Asn) c.349G>A (p.Asp117Asn) | |
9 | g.130458479G>C | CA375225140 | ASS1 | c.253G>C (p.Asp85His) c.367G>C (p.Asp123His) c.349G>C (p.Asp117His) | |
9 | g.130458479G>T | CA375225142 | ASS1 | c.253G>T (p.Asp85Tyr) c.367G>T (p.Asp123Tyr) c.349G>T (p.Asp117Tyr) | COSMIC |
9 | g.130458480A= | CA1881249964 | ASS1 | c.254A= (p.Asp85=) c.368A= (p.Asp123=) c.350A= (p.Asp117=) | |
9 | g.130458480A>C | CA375225144 | ASS1 | c.254A>C (p.Asp85Ala) c.368A>C (p.Asp123Ala) c.350A>C (p.Asp117Ala) | |
9 | g.130458480A>G | CA200608034 | ASS1 | c.254A>G (p.Asp85Gly) c.368A>G (p.Asp123Gly) c.350A>G (p.Asp117Gly) | dbSNP |
9 | g.130458480A>T | CA375225147 | ASS1 | c.254A>T (p.Asp85Val) c.368A>T (p.Asp123Val) c.350A>T (p.Asp117Val) | |
9 | g.130458481C>A | CA375225149 | ASS1 | c.255C>A (p.Asp85Glu) c.369C>A (p.Asp123Glu) c.351C>A (p.Asp117Glu) | |
9 | g.130458481C>G | CA375225151 | ASS1 | c.255C>G (p.Asp85Glu) c.369C>G (p.Asp123Glu) c.351C>G (p.Asp117Glu) | |
9 | g.130458481C>T | CA467388506 | ASS1 | c.255C>T (p.Asp85=) c.369C>T (p.Asp123=) c.351C>T (p.Asp117=) | |
9 | g.130458482C>A | CA375225154 | ASS1 | c.256C>A (p.Arg86Ser) c.370C>A (p.Arg124Ser) c.352C>A (p.Arg118Ser) | |
9 | g.130458482C= | CA1881249965 | ASS1 | c.256C= (p.Arg86=) c.370C= (p.Arg124=) c.352C= (p.Arg118=) | |
9 | g.130458482C>G | CA375225155 | ASS1 | c.256C>G (p.Arg86Gly) c.370C>G (p.Arg124Gly) c.352C>G (p.Arg118Gly) | |
9 | g.130458482C>T | CA253837 | ASS1 | c.256C>T (p.Arg86Cys) c.370C>T (p.Arg124Cys) c.352C>T (p.Arg118Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458483G>A | CA5283210 | ASS1 | c.257G>A (p.Arg86His) c.371G>A (p.Arg124His) c.353G>A (p.Arg118His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458483G>C | CA375225157 | ASS1 | c.257G>C (p.Arg86Pro) c.371G>C (p.Arg124Pro) c.353G>C (p.Arg118Pro) | |
9 | g.130458483G= | CA1881249966 | ASS1 | c.257G= (p.Arg86=) c.371G= (p.Arg124=) c.353G= (p.Arg118=) | |
9 | g.130458483G>T | CA375225156 | ASS1 | c.257G>T (p.Arg86Leu) c.371G>T (p.Arg124Leu) c.353G>T (p.Arg118Leu) | |
9 | g.130458484C>A | CA467388507 | ASS1 | c.258C>A (p.Arg86=) c.372C>A (p.Arg124=) c.354C>A (p.Arg118=) | dbSNP COSMIC |
9 | g.130458484C= | CA1881249967 | ASS1 | c.258C= (p.Arg86=) c.372C= (p.Arg124=) c.354C= (p.Arg118=) | |
9 | g.130458484C>G | CA467388508 | ASS1 | c.258C>G (p.Arg86=) c.372C>G (p.Arg124=) c.354C>G (p.Arg118=) | |
9 | g.130458484C>T | CA467388509 | ASS1 | c.258C>T (p.Arg86=) c.372C>T (p.Arg124=) c.354C>T (p.Arg118=) | ClinVar gnomAD v4 |