Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166277005A=CA1304964661SCN1A-AS1,SCN9Ac.2852T= (p.Val951=)
c.2819T= (p.Val940=)
c.509T= (p.Val170=)
c.1854T=
n.870-83A=
c.2465T= (p.Val822=)
c.2108T= (p.Val703=)
n.3166T=
2g.166277005A>CCA349076891SCN1A-AS1,SCN9Ac.2852T>G (p.Val951Gly)
c.2819T>G (p.Val940Gly)
c.509T>G (p.Val170Gly)
c.1854T>G
n.870-83A>C
c.2465T>G (p.Val822Gly)
c.2108T>G (p.Val703Gly)
n.3166T>G
2g.166277005A>GCA1944195SCN1A-AS1,SCN9Ac.2852T>C (p.Val951Ala)
c.2819T>C (p.Val940Ala)
c.509T>C (p.Val170Ala)
c.1854T>C
n.870-83A>G
c.2465T>C (p.Val822Ala)
c.2108T>C (p.Val703Ala)
n.3166T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277005A>TCA349076898SCN1A-AS1,SCN9Ac.2852T>A (p.Val951Asp)
c.2819T>A (p.Val940Asp)
c.509T>A (p.Val170Asp)
c.1854T>A
n.870-83A>T
c.2465T>A (p.Val822Asp)
c.2108T>A (p.Val703Asp)
n.3166T>A
2g.166277006C>ACA349076902SCN1A-AS1,SCN9Ac.2851G>T (p.Val951Phe)
c.2818G>T (p.Val940Phe)
c.508G>T (p.Val170Phe)
c.1853G>T
n.870-82C>A
c.2464G>T (p.Val822Phe)
c.2107G>T (p.Val703Phe)
n.3165G>T
2g.166277006C>GCA349076904SCN1A-AS1,SCN9Ac.2851G>C (p.Val951Leu)
c.2818G>C (p.Val940Leu)
c.508G>C (p.Val170Leu)
c.1853G>C
n.870-82C>G
c.2464G>C (p.Val822Leu)
c.2107G>C (p.Val703Leu)
n.3165G>C
2g.166277006C>TCA349076906SCN1A-AS1,SCN9Ac.2851G>A (p.Val951Ile)
c.2818G>A (p.Val940Ile)
c.508G>A (p.Val170Ile)
c.1853G>A
n.870-82C>T
c.2464G>A (p.Val822Ile)
c.2107G>A (p.Val703Ile)
n.3165G>A
2g.166277007C>ACA349076907SCN1A-AS1,SCN9Ac.2850G>T (p.Met950Ile)
c.2817G>T (p.Met939Ile)
c.507G>T (p.Met169Ile)
c.1852G>T
n.870-81C>A
c.2463G>T (p.Met821Ile)
c.2106G>T (p.Met702Ile)
n.3164G>T
 COSMIC COSMIC
2g.166277007C=CA1304964662SCN1A-AS1,SCN9Ac.2850G= (p.Met950=)
c.2817G= (p.Met939=)
c.507G= (p.Met169=)
c.1852G=
n.870-81C=
c.2463G= (p.Met821=)
c.2106G= (p.Met702=)
n.3164G=
2g.166277007C>GCA349076908SCN1A-AS1,SCN9Ac.2850G>C (p.Met950Ile)
c.2817G>C (p.Met939Ile)
c.507G>C (p.Met169Ile)
c.1852G>C
n.870-81C>G
c.2463G>C (p.Met821Ile)
c.2106G>C (p.Met702Ile)
n.3164G>C
 dbSNP gnomAD v4
2g.166277007C>TCA349076909SCN1A-AS1,SCN9Ac.2850G>A (p.Met950Ile)
c.2817G>A (p.Met939Ile)
c.507G>A (p.Met169Ile)
c.1852G>A
n.870-81C>T
c.2463G>A (p.Met821Ile)
c.2106G>A (p.Met702Ile)
n.3164G>A
2g.166277010_166277012delCA2580614407SCN1A-AS1,SCN9Ac.2848_2850del (p.Met950del)
c.2815_2817del (p.Met939del)
c.505_507del (p.Met169del)
c.1850_1852del
n.870-78_870-76del
c.2461_2463del (p.Met821del)
c.2104_2106del (p.Met702del)
n.3162_3164del
 ClinVar
2g.166277008A=CA1304964663SCN1A-AS1,SCN9Ac.2849T= (p.Met950=)
c.2816T= (p.Met939=)
c.506T= (p.Met169=)
c.1851T=
n.870-80A=
c.2462T= (p.Met821=)
c.2105T= (p.Met702=)
n.3163T=
2g.166277008A>CCA349076912SCN1A-AS1,SCN9Ac.2849T>G (p.Met950Arg)
c.2816T>G (p.Met939Arg)
c.506T>G (p.Met169Arg)
c.1851T>G
n.870-80A>C
c.2462T>G (p.Met821Arg)
c.2105T>G (p.Met702Arg)
n.3163T>G
2g.166277008A>GCA349076914SCN1A-AS1,SCN9Ac.2849T>C (p.Met950Thr)
c.2816T>C (p.Met939Thr)
c.506T>C (p.Met169Thr)
c.1851T>C
n.870-80A>G
c.2462T>C (p.Met821Thr)
c.2105T>C (p.Met702Thr)
n.3163T>C
 ClinVar dbSNP gnomAD v4
2g.166277008A>TCA349076916SCN1A-AS1,SCN9Ac.2849T>A (p.Met950Lys)
c.2816T>A (p.Met939Lys)
c.506T>A (p.Met169Lys)
c.1851T>A
n.870-80A>T
c.2462T>A (p.Met821Lys)
c.2105T>A (p.Met702Lys)
n.3163T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166277009T>ACA349076919SCN1A-AS1,SCN9Ac.2848A>T (p.Met950Leu)
c.2815A>T (p.Met939Leu)
c.505A>T (p.Met169Leu)
c.1850A>T
n.870-79T>A
c.2461A>T (p.Met821Leu)
c.2104A>T (p.Met702Leu)
n.3162A>T
2g.166277009T>CCA349076921SCN1A-AS1,SCN9Ac.2848A>G (p.Met950Val)
c.2815A>G (p.Met939Val)
c.505A>G (p.Met169Val)
c.1850A>G
n.870-79T>C
c.2461A>G (p.Met821Val)
c.2104A>G (p.Met702Val)
n.3162A>G
2g.166277009T>GCA349076923SCN1A-AS1,SCN9Ac.2848A>C (p.Met950Leu)
c.2815A>C (p.Met939Leu)
c.505A>C (p.Met169Leu)
c.1850A>C
n.870-79T>G
c.2461A>C (p.Met821Leu)
c.2104A>C (p.Met702Leu)
n.3162A>C
2g.166277010C>ACA349076930SCN1A-AS1,SCN9Ac.2847G>T (p.Met949Ile)
c.2814G>T (p.Met938Ile)
c.504G>T (p.Met168Ile)
c.1849G>T
n.870-78C>A
c.2460G>T (p.Met820Ile)
c.2103G>T (p.Met701Ile)
n.3161G>T
2g.166277010C=CA1304964664SCN1A-AS1,SCN9Ac.2847G= (p.Met949=)
c.2814G= (p.Met938=)
c.504G= (p.Met168=)
c.1849G=
n.870-78C=
c.2460G= (p.Met820=)
c.2103G= (p.Met701=)
n.3161G=
2g.166277010C>GCA349076926SCN1A-AS1,SCN9Ac.2847G>C (p.Met949Ile)
c.2814G>C (p.Met938Ile)
c.504G>C (p.Met168Ile)
c.1849G>C
n.870-78C>G
c.2460G>C (p.Met820Ile)
c.2103G>C (p.Met701Ile)
n.3161G>C
2g.166277010C>TCA1944196SCN1A-AS1,SCN9Ac.2847G>A (p.Met949Ile)
c.2814G>A (p.Met938Ile)
c.504G>A (p.Met168Ile)
c.1849G>A
n.870-78C>T
c.2460G>A (p.Met820Ile)
c.2103G>A (p.Met701Ile)
n.3161G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166277011A>CCA349076934SCN1A-AS1,SCN9Ac.2846T>G (p.Met949Arg)
c.2813T>G (p.Met938Arg)
c.503T>G (p.Met168Arg)
c.1848T>G
n.870-77A>C
c.2459T>G (p.Met820Arg)
c.2102T>G (p.Met701Arg)
n.3160T>G
2g.166277011A>GCA349076940SCN1A-AS1,SCN9Ac.2846T>C (p.Met949Thr)
c.2813T>C (p.Met938Thr)
c.503T>C (p.Met168Thr)
c.1848T>C
n.870-77A>G
c.2459T>C (p.Met820Thr)
c.2102T>C (p.Met701Thr)
n.3160T>C
2g.166277011A>TCA349076942SCN1A-AS1,SCN9Ac.2846T>A (p.Met949Lys)
c.2813T>A (p.Met938Lys)
c.503T>A (p.Met168Lys)
c.1848T>A
n.870-77A>T
c.2459T>A (p.Met820Lys)
c.2102T>A (p.Met701Lys)
n.3160T>A
2g.166277012T>ACA349076947SCN1A-AS1,SCN9Ac.2845A>T (p.Met949Leu)
c.2812A>T (p.Met938Leu)
c.502A>T (p.Met168Leu)
c.1847A>T
n.870-76T>A
c.2458A>T (p.Met820Leu)
c.2101A>T (p.Met701Leu)
n.3159A>T
2g.166277012T>CCA349076950SCN1A-AS1,SCN9Ac.2845A>G (p.Met949Val)
c.2812A>G (p.Met938Val)
c.502A>G (p.Met168Val)
c.1847A>G
n.870-76T>C
c.2458A>G (p.Met820Val)
c.2101A>G (p.Met701Val)
n.3159A>G
 gnomAD v4
2g.166277012T>GCA349076953SCN1A-AS1,SCN9Ac.2845A>C (p.Met949Leu)
c.2812A>C (p.Met938Leu)
c.502A>C (p.Met168Leu)
c.1847A>C
n.870-76T>G
c.2458A>C (p.Met820Leu)
c.2101A>C (p.Met701Leu)
n.3159A>C
2g.166277013G>ACA429977943SCN1A-AS1,SCN9Ac.2844C>T (p.Tyr948=)
c.2811C>T (p.Tyr937=)
c.501C>T (p.Tyr167=)
c.1846C>T
n.870-75G>A
c.2457C>T (p.Tyr819=)
c.2100C>T (p.Tyr700=)
n.3158C>T
2g.166277013G>CCA349076956SCN1A-AS1,SCN9Ac.2844C>G (p.Tyr948Ter)
c.2811C>G (p.Tyr937Ter)
c.501C>G (p.Tyr167Ter)
c.1846C>G
n.870-75G>C
c.2457C>G (p.Tyr819Ter)
c.2100C>G (p.Tyr700Ter)
n.3158C>G
2g.166277013G>TCA349076959SCN1A-AS1,SCN9Ac.2844C>A (p.Tyr948Ter)
c.2811C>A (p.Tyr937Ter)
c.501C>A (p.Tyr167Ter)
c.1846C>A
n.870-75G>T
c.2457C>A (p.Tyr819Ter)
c.2100C>A (p.Tyr700Ter)
n.3158C>A
2g.166277014T>ACA349076965SCN1A-AS1,SCN9Ac.2843A>T (p.Tyr948Phe)
c.2810A>T (p.Tyr937Phe)
c.500A>T (p.Tyr167Phe)
c.1845A>T
n.870-74T>A
c.2456A>T (p.Tyr819Phe)
c.2099A>T (p.Tyr700Phe)
n.3157A>T
 gnomAD v4
2g.166277014T>CCA349076967SCN1A-AS1,SCN9Ac.2843A>G (p.Tyr948Cys)
c.2810A>G (p.Tyr937Cys)
c.500A>G (p.Tyr167Cys)
c.1845A>G
n.870-74T>C
c.2456A>G (p.Tyr819Cys)
c.2099A>G (p.Tyr700Cys)
n.3157A>G
2g.166277014T>GCA349076973SCN1A-AS1,SCN9Ac.2843A>C (p.Tyr948Ser)
c.2810A>C (p.Tyr937Ser)
c.500A>C (p.Tyr167Ser)
c.1845A>C
n.870-74T>G
c.2456A>C (p.Tyr819Ser)
c.2099A>C (p.Tyr700Ser)
n.3157A>C
2g.166277015A>CCA349076983SCN1A-AS1,SCN9Ac.2842T>G (p.Tyr948Asp)
c.2809T>G (p.Tyr937Asp)
c.499T>G (p.Tyr167Asp)
c.1844T>G
n.870-73A>C
c.2455T>G (p.Tyr819Asp)
c.2098T>G (p.Tyr700Asp)
n.3156T>G
2g.166277015A>GCA349076980SCN1A-AS1,SCN9Ac.2842T>C (p.Tyr948His)
c.2809T>C (p.Tyr937His)
c.499T>C (p.Tyr167His)
c.1844T>C
n.870-73A>G
c.2455T>C (p.Tyr819His)
c.2098T>C (p.Tyr700His)
n.3156T>C
2g.166277015A>TCA349076978SCN1A-AS1,SCN9Ac.2842T>A (p.Tyr948Asn)
c.2809T>A (p.Tyr937Asn)
c.499T>A (p.Tyr167Asn)
c.1844T>A
n.870-73A>T
c.2455T>A (p.Tyr819Asn)
c.2098T>A (p.Tyr700Asn)
n.3156T>A
2g.166277016A>CCA429977950SCN1A-AS1,SCN9Ac.2841T>G (p.Val947=)
c.2808T>G (p.Val936=)
c.498T>G (p.Val166=)
c.1843T>G
n.870-72A>C
c.2454T>G (p.Val818=)
c.2097T>G (p.Val699=)
n.3155T>G
2g.166277016A>GCA429977951SCN1A-AS1,SCN9Ac.2841T>C (p.Val947=)
c.2808T>C (p.Val936=)
c.498T>C (p.Val166=)
c.1843T>C
n.870-72A>G
c.2454T>C (p.Val818=)
c.2097T>C (p.Val699=)
n.3155T>C
2g.166277016A>TCA429977952SCN1A-AS1,SCN9Ac.2841T>A (p.Val947=)
c.2808T>A (p.Val936=)
c.498T>A (p.Val166=)
c.1843T>A
n.870-72A>T
c.2454T>A (p.Val818=)
c.2097T>A (p.Val699=)
n.3155T>A
2g.166277017A=CA1304964665SCN1A-AS1,SCN9Ac.2840T= (p.Val947=)
c.2807T= (p.Val936=)
c.497T= (p.Val166=)
c.1842T=
n.870-71A=
c.2453T= (p.Val818=)
c.2096T= (p.Val699=)
n.3154T=
2g.166277017A>CCA349076985SCN1A-AS1,SCN9Ac.2840T>G (p.Val947Gly)
c.2807T>G (p.Val936Gly)
c.497T>G (p.Val166Gly)
c.1842T>G
n.870-71A>C
c.2453T>G (p.Val818Gly)
c.2096T>G (p.Val699Gly)
n.3154T>G
2g.166277017A>GCA349076986SCN1A-AS1,SCN9Ac.2840T>C (p.Val947Ala)
c.2807T>C (p.Val936Ala)
c.497T>C (p.Val166Ala)
c.1842T>C
n.870-71A>G
c.2453T>C (p.Val818Ala)
c.2096T>C (p.Val699Ala)
n.3154T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166277017A>TCA349076992SCN1A-AS1,SCN9Ac.2840T>A (p.Val947Asp)
c.2807T>A (p.Val936Asp)
c.497T>A (p.Val166Asp)
c.1842T>A
n.870-71A>T
c.2453T>A (p.Val818Asp)
c.2096T>A (p.Val699Asp)
n.3154T>A
2g.166277018C>ACA349076994SCN1A-AS1,SCN9Ac.2839G>T (p.Val947Phe)
c.2806G>T (p.Val936Phe)
c.496G>T (p.Val166Phe)
c.1841G>T
n.870-70C>A
c.2452G>T (p.Val818Phe)
c.2095G>T (p.Val699Phe)
n.3153G>T
2g.166277018C>GCA349076996SCN1A-AS1,SCN9Ac.2839G>C (p.Val947Leu)
c.2806G>C (p.Val936Leu)
c.496G>C (p.Val166Leu)
c.1841G>C
n.870-70C>G
c.2452G>C (p.Val818Leu)
c.2095G>C (p.Val699Leu)
n.3153G>C
2g.166277018C>TCA349076999SCN1A-AS1,SCN9Ac.2839G>A (p.Val947Ile)
c.2806G>A (p.Val936Ile)
c.496G>A (p.Val166Ile)
c.1841G>A
n.870-70C>T
c.2452G>A (p.Val818Ile)
c.2095G>A (p.Val699Ile)
n.3153G>A
2g.166277019A>CCA349077003SCN1A-AS1,SCN9Ac.2838T>G (p.Ile946Met)
c.2805T>G (p.Ile935Met)
c.495T>G (p.Ile165Met)
c.1840T>G
n.870-69A>C
c.2451T>G (p.Ile817Met)
c.2094T>G (p.Ile698Met)
n.3152T>G
2g.166277019A>GCA429977957SCN1A-AS1,SCN9Ac.2838T>C (p.Ile946=)
c.2805T>C (p.Ile935=)
c.495T>C (p.Ile165=)
c.1840T>C
n.870-69A>G
c.2451T>C (p.Ile817=)
c.2094T>C (p.Ile698=)
n.3152T>C

Number of alleles fetched