Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166277010_166277012del | CA2580614407 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277008A= | CA1304964663 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277008A>C | CA349076912 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277008A>G | CA349076914 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277008A>T | CA349076916 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277009T>A | CA349076919 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277009T>C | CA349076921 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277009T>G | CA349076923 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277010C>A | CA349076930 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277010C= | CA1304964664 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277010C>G | CA349076926 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277010C>T | CA1944196 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277011A>C | CA349076934 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277011A>G | CA349076940 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277011A>T | CA349076942 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277012T>A | CA349076947 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277012T>C | CA349076950 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277012T>G | CA349076953 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277013G>A | CA429977943 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277013G>C | CA349076956 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277013G>T | CA349076959 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277014T>A | CA349076965 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277014T>C | CA349076967 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277014T>G | CA349076973 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277015A>C | CA349076983 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277015A>G | CA349076980 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277015A>T | CA349076978 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277016A>C | CA429977950 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277016A>G | CA429977951 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277016A>T | CA429977952 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277017A= | CA1304964665 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277017A>C | CA349076985 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277017A>G | CA349076986 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277017A>T | CA349076992 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277018C>A | CA349076994 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277018C>G | CA349076996 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277018C>T | CA349076999 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277019A>C | CA349077003 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277019A>G | CA429977957 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277019A>T | CA429977958 | SCN1A-AS1,SCN9A | c.2838T>A (p.Ile946=) c.2805T>A (p.Ile935=) c.495T>A (p.Ile165=) c.1840T>A n.870-69A>T c.2451T>A (p.Ile817=) c.2094T>A (p.Ile698=) n.3152T>A | |
2 | g.166277020A= | CA1304964666 | SCN1A-AS1,SCN9A | c.2837T= (p.Ile946=) c.2804T= (p.Ile935=) c.494T= (p.Ile165=) c.1839T= n.870-68A= c.2450T= (p.Ile817=) c.2093T= (p.Ile698=) n.3151T= | |
2 | g.166277020A>C | CA349077008 | SCN1A-AS1,SCN9A | c.2837T>G (p.Ile946Ser) c.2804T>G (p.Ile935Ser) c.494T>G (p.Ile165Ser) c.1839T>G n.870-68A>C c.2450T>G (p.Ile817Ser) c.2093T>G (p.Ile698Ser) n.3151T>G | |
2 | g.166277020A>G | CA349077011 | SCN1A-AS1,SCN9A | c.2837T>C (p.Ile946Thr) c.2804T>C (p.Ile935Thr) c.494T>C (p.Ile165Thr) c.1839T>C n.870-68A>G c.2450T>C (p.Ile817Thr) c.2093T>C (p.Ile698Thr) n.3151T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.166277020A>T | CA349077013 | SCN1A-AS1,SCN9A | c.2837T>A (p.Ile946Asn) c.2804T>A (p.Ile935Asn) c.494T>A (p.Ile165Asn) c.1839T>A n.870-68A>T c.2450T>A (p.Ile817Asn) c.2093T>A (p.Ile698Asn) n.3151T>A | |
2 | g.166277021T>A | CA349077014 | SCN1A-AS1,SCN9A | c.2836A>T (p.Ile946Phe) c.2803A>T (p.Ile935Phe) c.493A>T (p.Ile165Phe) c.1838A>T n.870-67T>A c.2449A>T (p.Ile817Phe) c.2092A>T (p.Ile698Phe) n.3150A>T | |
2 | g.166277021T>C | CA1944197 | SCN1A-AS1,SCN9A | c.2836A>G (p.Ile946Val) c.2803A>G (p.Ile935Val) c.493A>G (p.Ile165Val) c.1838A>G n.870-67T>C c.2449A>G (p.Ile817Val) c.2092A>G (p.Ile698Val) n.3150A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277021T>G | CA349077016 | SCN1A-AS1,SCN9A | c.2836A>C (p.Ile946Leu) c.2803A>C (p.Ile935Leu) c.493A>C (p.Ile165Leu) c.1838A>C n.870-67T>G c.2449A>C (p.Ile817Leu) c.2092A>C (p.Ile698Leu) n.3150A>C | |
2 | g.166277021T= | CA1304964667 | SCN1A-AS1,SCN9A | c.2836A= (p.Ile946=) c.2803A= (p.Ile935=) c.493A= (p.Ile165=) c.1838A= n.870-67T= c.2449A= (p.Ile817=) c.2092A= (p.Ile698=) n.3150A= | |
2 | g.166277022A>C | CA429977966 | SCN1A-AS1,SCN9A | c.2835T>G (p.Leu945=) c.2802T>G (p.Leu934=) c.492T>G (p.Leu164=) c.1837T>G n.870-66A>C c.2448T>G (p.Leu816=) c.2091T>G (p.Leu697=) n.3149T>G | |
2 | g.166277022A>G | CA429977968 | SCN1A-AS1,SCN9A | c.2835T>C (p.Leu945=) c.2802T>C (p.Leu934=) c.492T>C (p.Leu164=) c.1837T>C n.870-66A>G c.2448T>C (p.Leu816=) c.2091T>C (p.Leu697=) n.3149T>C | |
2 | g.166277022A>T | CA429977969 | SCN1A-AS1,SCN9A | c.2835T>A (p.Leu945=) c.2802T>A (p.Leu934=) c.492T>A (p.Leu164=) c.1837T>A n.870-66A>T c.2448T>A (p.Leu816=) c.2091T>A (p.Leu697=) n.3149T>A | |
2 | g.166277023A= | CA1304964668 | SCN1A-AS1,SCN9A | c.2834T= (p.Leu945=) c.2801T= (p.Leu934=) c.491T= (p.Leu164=) c.1836T= n.870-65A= c.2447T= (p.Leu816=) c.2090T= (p.Leu697=) n.3148T= | |
2 | g.166277023A>C | CA349077022 | SCN1A-AS1,SCN9A | c.2834T>G (p.Leu945Arg) c.2801T>G (p.Leu934Arg) c.491T>G (p.Leu164Arg) c.1836T>G n.870-65A>C c.2447T>G (p.Leu816Arg) c.2090T>G (p.Leu697Arg) n.3148T>G | |
2 | g.166277023A>G | CA1944198 | SCN1A-AS1,SCN9A | c.2834T>C (p.Leu945Pro) c.2801T>C (p.Leu934Pro) c.491T>C (p.Leu164Pro) c.1836T>C n.870-65A>G c.2447T>C (p.Leu816Pro) c.2090T>C (p.Leu697Pro) n.3148T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277023A>T | CA349077025 | SCN1A-AS1,SCN9A | c.2834T>A (p.Leu945His) c.2801T>A (p.Leu934His) c.491T>A (p.Leu164His) c.1836T>A n.870-65A>T c.2447T>A (p.Leu816His) c.2090T>A (p.Leu697His) n.3148T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277024G>A | CA349077034 | SCN1A-AS1,SCN9A | c.2833C>T (p.Leu945Phe) c.2800C>T (p.Leu934Phe) c.490C>T (p.Leu164Phe) c.1835C>T n.870-64G>A c.2446C>T (p.Leu816Phe) c.2089C>T (p.Leu697Phe) n.3147C>T | |
2 | g.166277024G>C | CA349077037 | SCN1A-AS1,SCN9A | c.2833C>G (p.Leu945Val) c.2800C>G (p.Leu934Val) c.490C>G (p.Leu164Val) c.1835C>G n.870-64G>C c.2446C>G (p.Leu816Val) c.2089C>G (p.Leu697Val) n.3147C>G | |
2 | g.166277024G>T | CA349077041 | SCN1A-AS1,SCN9A | c.2833C>A (p.Leu945Ile) c.2800C>A (p.Leu934Ile) c.490C>A (p.Leu164Ile) c.1835C>A n.870-64G>T c.2446C>A (p.Leu816Ile) c.2089C>A (p.Leu697Ile) n.3147C>A | |
2 | g.166277025G>A | CA429977972 | SCN1A-AS1,SCN9A | c.2832C>T (p.Cys944=) c.2799C>T (p.Cys933=) c.489C>T (p.Cys163=) c.1834C>T n.870-63G>A c.2445C>T (p.Cys815=) c.2088C>T (p.Cys696=) n.3146C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277025G>C | CA349077047 | SCN1A-AS1,SCN9A | c.2832C>G (p.Cys944Trp) c.2799C>G (p.Cys933Trp) c.489C>G (p.Cys163Trp) c.1834C>G n.870-63G>C c.2445C>G (p.Cys815Trp) c.2088C>G (p.Cys696Trp) n.3146C>G | |
2 | g.166277025G= | CA1304964669 | SCN1A-AS1,SCN9A | c.2832C= (p.Cys944=) c.2799C= (p.Cys933=) c.489C= (p.Cys163=) c.1834C= n.870-63G= c.2445C= (p.Cys815=) c.2088C= (p.Cys696=) n.3146C= | |
2 | g.166277025G>T | CA349077050 | SCN1A-AS1,SCN9A | c.2832C>A (p.Cys944Ter) c.2799C>A (p.Cys933Ter) c.489C>A (p.Cys163Ter) c.1834C>A n.870-63G>T c.2445C>A (p.Cys815Ter) c.2088C>A (p.Cys696Ter) n.3146C>A | dbSNP |
2 | g.166277026C>A | CA349077055 | SCN1A-AS1,SCN9A | c.2831G>T (p.Cys944Phe) c.2798G>T (p.Cys933Phe) c.488G>T (p.Cys163Phe) c.1833G>T n.870-62C>A c.2444G>T (p.Cys815Phe) c.2087G>T (p.Cys696Phe) n.3145G>T | |
2 | g.166277026C>G | CA349077058 | SCN1A-AS1,SCN9A | c.2831G>C (p.Cys944Ser) c.2798G>C (p.Cys933Ser) c.488G>C (p.Cys163Ser) c.1833G>C n.870-62C>G c.2444G>C (p.Cys815Ser) c.2087G>C (p.Cys696Ser) n.3145G>C | |
2 | g.166277026C>T | CA349077061 | SCN1A-AS1,SCN9A | c.2831G>A (p.Cys944Tyr) c.2798G>A (p.Cys933Tyr) c.488G>A (p.Cys163Tyr) c.1833G>A n.870-62C>T c.2444G>A (p.Cys815Tyr) c.2087G>A (p.Cys696Tyr) n.3145G>A | |
2 | g.166277027A>C | CA349077065 | SCN1A-AS1,SCN9A | c.2830T>G (p.Cys944Gly) c.2797T>G (p.Cys933Gly) c.487T>G (p.Cys163Gly) c.1832T>G n.870-61A>C c.2443T>G (p.Cys815Gly) c.2086T>G (p.Cys696Gly) n.3144T>G | |
2 | g.166277027A>G | CA349077068 | SCN1A-AS1,SCN9A | c.2830T>C (p.Cys944Arg) c.2797T>C (p.Cys933Arg) c.487T>C (p.Cys163Arg) c.1832T>C n.870-61A>G c.2443T>C (p.Cys815Arg) c.2086T>C (p.Cys696Arg) n.3144T>C | gnomAD v4 |
2 | g.166277027A>T | CA349077072 | SCN1A-AS1,SCN9A | c.2830T>A (p.Cys944Ser) c.2797T>A (p.Cys933Ser) c.487T>A (p.Cys163Ser) c.1832T>A n.870-61A>T c.2443T>A (p.Cys815Ser) c.2086T>A (p.Cys696Ser) n.3144T>A | |
2 | g.166277028C>A | CA349077088 | SCN1A-AS1,SCN9A | c.2829G>T (p.Met943Ile) c.2796G>T (p.Met932Ile) c.486G>T (p.Met162Ile) c.1831G>T n.870-60C>A c.2442G>T (p.Met814Ile) c.2085G>T (p.Met695Ile) n.3143G>T | |
2 | g.166277028C= | CA1304964670 | SCN1A-AS1,SCN9A | c.2829G= (p.Met943=) c.2796G= (p.Met932=) c.486G= (p.Met162=) c.1831G= n.870-60C= c.2442G= (p.Met814=) c.2085G= (p.Met695=) n.3143G= | |
2 | g.166277028C>G | CA349077090 | SCN1A-AS1,SCN9A | c.2829G>C (p.Met943Ile) c.2796G>C (p.Met932Ile) c.486G>C (p.Met162Ile) c.1831G>C n.870-60C>G c.2442G>C (p.Met814Ile) c.2085G>C (p.Met695Ile) n.3143G>C | gnomAD v4 |
2 | g.166277028C>T | CA59794487 | SCN1A-AS1,SCN9A | c.2829G>A (p.Met943Ile) c.2796G>A (p.Met932Ile) c.486G>A (p.Met162Ile) c.1831G>A n.870-60C>T c.2442G>A (p.Met814Ile) c.2085G>A (p.Met695Ile) n.3143G>A | ClinVar dbSNP |
2 | g.166277029A= | CA1304964671 | SCN1A-AS1,SCN9A | c.2828T= (p.Met943=) c.2795T= (p.Met932=) c.485T= (p.Met162=) c.1830T= n.870-59A= c.2441T= (p.Met814=) c.2084T= (p.Met695=) n.3142T= | |
2 | g.166277029A>C | CA349077099 | SCN1A-AS1,SCN9A | c.2828T>G (p.Met943Arg) c.2795T>G (p.Met932Arg) c.485T>G (p.Met162Arg) c.1830T>G n.870-59A>C c.2441T>G (p.Met814Arg) c.2084T>G (p.Met695Arg) n.3142T>G | |
2 | g.166277029A>G | CA349077091 | SCN1A-AS1,SCN9A | c.2828T>C (p.Met943Thr) c.2795T>C (p.Met932Thr) c.485T>C (p.Met162Thr) c.1830T>C n.870-59A>G c.2441T>C (p.Met814Thr) c.2084T>C (p.Met695Thr) n.3142T>C | ClinVar dbSNP gnomAD v4 |
2 | g.166277029A>T | CA349077096 | SCN1A-AS1,SCN9A | c.2828T>A (p.Met943Lys) c.2795T>A (p.Met932Lys) c.485T>A (p.Met162Lys) c.1830T>A n.870-59A>T c.2441T>A (p.Met814Lys) c.2084T>A (p.Met695Lys) n.3142T>A | |
2 | g.166277030T>A | CA349077105 | SCN1A-AS1,SCN9A | c.2827A>T (p.Met943Leu) c.2794A>T (p.Met932Leu) c.484A>T (p.Met162Leu) c.1829A>T n.870-58T>A c.2440A>T (p.Met814Leu) c.2083A>T (p.Met695Leu) n.3141A>T | |
2 | g.166277030T>C | CA349077108 | SCN1A-AS1,SCN9A | c.2827A>G (p.Met943Val) c.2794A>G (p.Met932Val) c.484A>G (p.Met162Val) c.1829A>G n.870-58T>C c.2440A>G (p.Met814Val) c.2083A>G (p.Met695Val) n.3141A>G | gnomAD v4 |
2 | g.166277030T>G | CA147603 | SCN1A-AS1,SCN9A | c.2827A>C (p.Met943Leu) c.2794A>C (p.Met932Leu) c.484A>C (p.Met162Leu) c.1829A>C n.870-58T>G c.2440A>C (p.Met814Leu) c.2083A>C (p.Met695Leu) n.3141A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277030T= | CA1304964672 | SCN1A-AS1,SCN9A | c.2827A= (p.Met943=) c.2794A= (p.Met932=) c.484A= (p.Met162=) c.1829A= n.870-58T= c.2440A= (p.Met814=) c.2083A= (p.Met695=) n.3141A= | |
2 | g.166277031A>C | CA429977986 | SCN1A-AS1,SCN9A | c.2826T>G (p.Ala942=) c.2793T>G (p.Ala931=) c.483T>G (p.Ala161=) c.1828T>G n.870-57A>C c.2439T>G (p.Ala813=) c.2082T>G (p.Ala694=) n.3140T>G | |
2 | g.166277031A>G | CA429977987 | SCN1A-AS1,SCN9A | c.2826T>C (p.Ala942=) c.2793T>C (p.Ala931=) c.483T>C (p.Ala161=) c.1828T>C n.870-57A>G c.2439T>C (p.Ala813=) c.2082T>C (p.Ala694=) n.3140T>C | |
2 | g.166277031A>T | CA429977988 | SCN1A-AS1,SCN9A | c.2826T>A (p.Ala942=) c.2793T>A (p.Ala931=) c.483T>A (p.Ala161=) c.1828T>A n.870-57A>T c.2439T>A (p.Ala813=) c.2082T>A (p.Ala694=) n.3140T>A | |
2 | g.166277032G>A | CA349077115 | SCN1A-AS1,SCN9A | c.2825C>T (p.Ala942Val) c.2792C>T (p.Ala931Val) c.482C>T (p.Ala161Val) c.1827C>T n.870-56G>A c.2438C>T (p.Ala813Val) c.2081C>T (p.Ala694Val) n.3139C>T | |
2 | g.166277032G>C | CA349077117 | SCN1A-AS1,SCN9A | c.2825C>G (p.Ala942Gly) c.2792C>G (p.Ala931Gly) c.482C>G (p.Ala161Gly) c.1827C>G n.870-56G>C c.2438C>G (p.Ala813Gly) c.2081C>G (p.Ala694Gly) n.3139C>G | |
2 | g.166277032G>T | CA349077120 | SCN1A-AS1,SCN9A | c.2825C>A (p.Ala942Asp) c.2792C>A (p.Ala931Asp) c.482C>A (p.Ala161Asp) c.1827C>A n.870-56G>T c.2438C>A (p.Ala813Asp) c.2081C>A (p.Ala694Asp) n.3139C>A | |
2 | g.166277033C>A | CA349077123 | SCN1A-AS1,SCN9A | c.2824G>T (p.Ala942Ser) c.2791G>T (p.Ala931Ser) c.481G>T (p.Ala161Ser) c.1826G>T n.870-55C>A c.2437G>T (p.Ala813Ser) c.2080G>T (p.Ala694Ser) n.3138G>T | gnomAD v4 |
2 | g.166277033C= | CA1304964692 | SCN1A-AS1,SCN9A | c.2824G= (p.Ala942=) c.2791G= (p.Ala931=) c.481G= (p.Ala161=) c.1826G= n.870-55C= c.2437G= (p.Ala813=) c.2080G= (p.Ala694=) n.3138G= | |
2 | g.166277033C>G | CA349077126 | SCN1A-AS1,SCN9A | c.2824G>C (p.Ala942Pro) c.2791G>C (p.Ala931Pro) c.481G>C (p.Ala161Pro) c.1826G>C n.870-55C>G c.2437G>C (p.Ala813Pro) c.2080G>C (p.Ala694Pro) n.3138G>C | |
2 | g.166277033C>T | CA1944199 | SCN1A-AS1,SCN9A | c.2824G>A (p.Ala942Thr) c.2791G>A (p.Ala931Thr) c.481G>A (p.Ala161Thr) c.1826G>A n.870-55C>T c.2437G>A (p.Ala813Thr) c.2080G>A (p.Ala694Thr) n.3138G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277034T>A | CA349077134 | SCN1A-AS1,SCN9A | c.2823A>T (p.Gln941His) c.2790A>T (p.Gln930His) c.480A>T (p.Gln160His) c.1825A>T n.870-54T>A c.2436A>T (p.Gln812His) c.2079A>T (p.Gln693His) n.3137A>T | ClinVar dbSNP gnomAD v4 |
2 | g.166277034T>C | CA429977992 | SCN1A-AS1,SCN9A | c.2823A>G (p.Gln941=) c.2790A>G (p.Gln930=) c.480A>G (p.Gln160=) c.1825A>G n.870-54T>C c.2436A>G (p.Gln812=) c.2079A>G (p.Gln693=) n.3137A>G | |
2 | g.166277034T>G | CA349077139 | SCN1A-AS1,SCN9A | c.2823A>C (p.Gln941His) c.2790A>C (p.Gln930His) c.480A>C (p.Gln160His) c.1825A>C n.870-54T>G c.2436A>C (p.Gln812His) c.2079A>C (p.Gln693His) n.3137A>C | |
2 | g.166277035T>A | CA349077149 | SCN1A-AS1,SCN9A | c.2822A>T (p.Gln941Leu) c.2789A>T (p.Gln930Leu) c.479A>T (p.Gln160Leu) c.1824A>T n.870-53T>A c.2435A>T (p.Gln812Leu) c.2078A>T (p.Gln693Leu) n.3136A>T | COSMIC COSMIC |
2 | g.166277035T>C | CA349077144 | SCN1A-AS1,SCN9A | c.2822A>G (p.Gln941Arg) c.2789A>G (p.Gln930Arg) c.479A>G (p.Gln160Arg) c.1824A>G n.870-53T>C c.2435A>G (p.Gln812Arg) c.2078A>G (p.Gln693Arg) n.3136A>G | |
2 | g.166277035T>G | CA349077146 | SCN1A-AS1,SCN9A | c.2822A>C (p.Gln941Pro) c.2789A>C (p.Gln930Pro) c.479A>C (p.Gln160Pro) c.1824A>C n.870-53T>G c.2435A>C (p.Gln812Pro) c.2078A>C (p.Gln693Pro) n.3136A>C | |
2 | g.166277036G>A | CA349077155 | SCN1A-AS1,SCN9A | c.2821C>T (p.Gln941Ter) c.2788C>T (p.Gln930Ter) c.478C>T (p.Gln160Ter) c.1823C>T n.870-52G>A c.2434C>T (p.Gln812Ter) c.2077C>T (p.Gln693Ter) n.3135C>T | dbSNP |
2 | g.166277036G>C | CA349077157 | SCN1A-AS1,SCN9A | c.2821C>G (p.Gln941Glu) c.2788C>G (p.Gln930Glu) c.478C>G (p.Gln160Glu) c.1823C>G n.870-52G>C c.2434C>G (p.Gln812Glu) c.2077C>G (p.Gln693Glu) n.3135C>G | |
2 | g.166277036G= | CA1304964715 | SCN1A-AS1,SCN9A | c.2821C= (p.Gln941=) c.2788C= (p.Gln930=) c.478C= (p.Gln160=) c.1823C= n.870-52G= c.2434C= (p.Gln812=) c.2077C= (p.Gln693=) n.3135C= | |
2 | g.166277036G>T | CA349077161 | SCN1A-AS1,SCN9A | c.2821C>A (p.Gln941Lys) c.2788C>A (p.Gln930Lys) c.478C>A (p.Gln160Lys) c.1823C>A n.870-52G>T c.2434C>A (p.Gln812Lys) c.2077C>A (p.Gln693Lys) n.3135C>A | |
2 | g.166277037A>C | CA429978000 | SCN1A-AS1,SCN9A | c.2820T>G (p.Gly940=) c.2787T>G (p.Gly929=) c.477T>G (p.Gly159=) c.1822T>G n.870-51A>C c.2433T>G (p.Gly811=) c.2076T>G (p.Gly692=) n.3134T>G | |
2 | g.166277037A>G | CA429977995 | SCN1A-AS1,SCN9A | c.2820T>C (p.Gly940=) c.2787T>C (p.Gly929=) c.477T>C (p.Gly159=) c.1822T>C n.870-51A>G c.2433T>C (p.Gly811=) c.2076T>C (p.Gly692=) n.3134T>C | |
2 | g.166277037A>T | CA429977997 | SCN1A-AS1,SCN9A | c.2820T>A (p.Gly940=) c.2787T>A (p.Gly929=) c.477T>A (p.Gly159=) c.1822T>A n.870-51A>T c.2433T>A (p.Gly811=) c.2076T>A (p.Gly692=) n.3134T>A | |
2 | g.166277038C>A | CA349077166 | SCN1A-AS1,SCN9A | c.2819G>T (p.Gly940Val) c.2786G>T (p.Gly929Val) c.476G>T (p.Gly159Val) c.1821G>T n.870-50C>A c.2432G>T (p.Gly811Val) c.2075G>T (p.Gly692Val) n.3133G>T | |
2 | g.166277038C>G | CA349077168 | SCN1A-AS1,SCN9A | c.2819G>C (p.Gly940Ala) c.2786G>C (p.Gly929Ala) c.476G>C (p.Gly159Ala) c.1821G>C n.870-50C>G c.2432G>C (p.Gly811Ala) c.2075G>C (p.Gly692Ala) n.3133G>C | |
2 | g.166277038C>T | CA349077170 | SCN1A-AS1,SCN9A | c.2819G>A (p.Gly940Asp) c.2786G>A (p.Gly929Asp) c.476G>A (p.Gly159Asp) c.1821G>A n.870-50C>T c.2432G>A (p.Gly811Asp) c.2075G>A (p.Gly692Asp) n.3133G>A | |
2 | g.166277039C>A | CA349077173 | SCN1A-AS1,SCN9A | c.2818G>T (p.Gly940Cys) c.2785G>T (p.Gly929Cys) c.475G>T (p.Gly159Cys) c.1820G>T n.870-49C>A c.2431G>T (p.Gly811Cys) c.2074G>T (p.Gly692Cys) n.3132G>T | |
2 | g.166277039C= | CA1304964719 | SCN1A-AS1,SCN9A | c.2818G= (p.Gly940=) c.2785G= (p.Gly929=) c.475G= (p.Gly159=) c.1820G= n.870-49C= c.2431G= (p.Gly811=) c.2074G= (p.Gly692=) n.3132G= | |
2 | g.166277039C>G | CA349077176 | SCN1A-AS1,SCN9A | c.2818G>C (p.Gly940Arg) c.2785G>C (p.Gly929Arg) c.475G>C (p.Gly159Arg) c.1820G>C n.870-49C>G c.2431G>C (p.Gly811Arg) c.2074G>C (p.Gly692Arg) n.3132G>C | ClinVar dbSNP gnomAD v4 |
2 | g.166277039C>T | CA349077178 | SCN1A-AS1,SCN9A | c.2818G>A (p.Gly940Ser) c.2785G>A (p.Gly929Ser) c.475G>A (p.Gly159Ser) c.1820G>A n.870-49C>T c.2431G>A (p.Gly811Ser) c.2074G>A (p.Gly692Ser) n.3132G>A | |
2 | g.166277040A>C | CA429978003 | SCN1A-AS1,SCN9A | c.2817T>G (p.Ala939=) c.2784T>G (p.Ala928=) c.474T>G (p.Ala158=) c.1819T>G n.870-48A>C c.2430T>G (p.Ala810=) c.2073T>G (p.Ala691=) n.3131T>G | |
2 | g.166277040A>G | CA429978007 | SCN1A-AS1,SCN9A | c.2817T>C (p.Ala939=) c.2784T>C (p.Ala928=) c.474T>C (p.Ala158=) c.1819T>C n.870-48A>G c.2430T>C (p.Ala810=) c.2073T>C (p.Ala691=) n.3131T>C | |
2 | g.166277040A>T | CA429978004 | SCN1A-AS1,SCN9A | c.2817T>A (p.Ala939=) c.2784T>A (p.Ala928=) c.474T>A (p.Ala158=) c.1819T>A n.870-48A>T c.2430T>A (p.Ala810=) c.2073T>A (p.Ala691=) n.3131T>A | |
2 | g.166277041G>A | CA349077184 | SCN1A-AS1,SCN9A | c.2816C>T (p.Ala939Val) c.2783C>T (p.Ala928Val) c.473C>T (p.Ala158Val) c.1818C>T n.870-47G>A c.2429C>T (p.Ala810Val) c.2072C>T (p.Ala691Val) n.3130C>T | ClinVar dbSNP |
2 | g.166277041G>C | CA349077187 | SCN1A-AS1,SCN9A | c.2816C>G (p.Ala939Gly) c.2783C>G (p.Ala928Gly) c.473C>G (p.Ala158Gly) c.1818C>G n.870-47G>C c.2429C>G (p.Ala810Gly) c.2072C>G (p.Ala691Gly) n.3130C>G | |
2 | g.166277041G= | CA1304964726 | SCN1A-AS1,SCN9A | c.2816C= (p.Ala939=) c.2783C= (p.Ala928=) c.473C= (p.Ala158=) c.1818C= n.870-47G= c.2429C= (p.Ala810=) c.2072C= (p.Ala691=) n.3130C= | |
2 | g.166277041G>T | CA349077188 | SCN1A-AS1,SCN9A | c.2816C>A (p.Ala939Asp) c.2783C>A (p.Ala928Asp) c.473C>A (p.Ala158Asp) c.1818C>A n.870-47G>T c.2429C>A (p.Ala810Asp) c.2072C>A (p.Ala691Asp) n.3130C>A | |
2 | g.166277042C>A | CA349077200 | SCN1A-AS1,SCN9A | c.2815G>T (p.Ala939Ser) c.2782G>T (p.Ala928Ser) c.472G>T (p.Ala158Ser) c.1817G>T n.870-46C>A c.2428G>T (p.Ala810Ser) c.2071G>T (p.Ala691Ser) n.3129G>T | ClinVar dbSNP |
2 | g.166277042C= | CA1304964737 | SCN1A-AS1,SCN9A | c.2815G= (p.Ala939=) c.2782G= (p.Ala928=) c.472G= (p.Ala158=) c.1817G= n.870-46C= c.2428G= (p.Ala810=) c.2071G= (p.Ala691=) n.3129G= | |
2 | g.166277042C>G | CA349077197 | SCN1A-AS1,SCN9A | c.2815G>C (p.Ala939Pro) c.2782G>C (p.Ala928Pro) c.472G>C (p.Ala158Pro) c.1817G>C n.870-46C>G c.2428G>C (p.Ala810Pro) c.2071G>C (p.Ala691Pro) n.3129G>C | |
2 | g.166277042C>T | CA16617322 | SCN1A-AS1,SCN9A | c.2815G>A (p.Ala939Thr) c.2782G>A (p.Ala928Thr) c.472G>A (p.Ala158Thr) c.1817G>A n.870-46C>T c.2428G>A (p.Ala810Thr) c.2071G>A (p.Ala691Thr) n.3129G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277043G>A | CA59794494 | SCN1A-AS1,SCN9A | c.2814C>T (p.Val938=) c.2781C>T (p.Val927=) c.471C>T (p.Val157=) c.1816C>T n.870-45G>A c.2427C>T (p.Val809=) c.2070C>T (p.Val690=) n.3128C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277043G>C | CA429978016 | SCN1A-AS1,SCN9A | c.2814C>G (p.Val938=) c.2781C>G (p.Val927=) c.471C>G (p.Val157=) c.1816C>G n.870-45G>C c.2427C>G (p.Val809=) c.2070C>G (p.Val690=) n.3128C>G | |
2 | g.166277043G= | CA1304964739 | SCN1A-AS1,SCN9A | c.2814C= (p.Val938=) c.2781C= (p.Val927=) c.471C= (p.Val157=) c.1816C= n.870-45G= c.2427C= (p.Val809=) c.2070C= (p.Val690=) n.3128C= | |
2 | g.166277043G>T | CA429978018 | SCN1A-AS1,SCN9A | c.2814C>A (p.Val938=) c.2781C>A (p.Val927=) c.471C>A (p.Val157=) c.1816C>A n.870-45G>T c.2427C>A (p.Val809=) c.2070C>A (p.Val690=) n.3128C>A | |
2 | g.166277044A>C | CA349077205 | SCN1A-AS1,SCN9A | c.2813T>G (p.Val938Gly) c.2780T>G (p.Val927Gly) c.470T>G (p.Val157Gly) c.1815T>G n.870-44A>C c.2426T>G (p.Val809Gly) c.2069T>G (p.Val690Gly) n.3127T>G | |
2 | g.166277044A>G | CA349077207 | SCN1A-AS1,SCN9A | c.2813T>C (p.Val938Ala) c.2780T>C (p.Val927Ala) c.470T>C (p.Val157Ala) c.1815T>C n.870-44A>G c.2426T>C (p.Val809Ala) c.2069T>C (p.Val690Ala) n.3127T>C | |
2 | g.166277044A>T | CA349077211 | SCN1A-AS1,SCN9A | c.2813T>A (p.Val938Asp) c.2780T>A (p.Val927Asp) c.470T>A (p.Val157Asp) c.1815T>A n.870-44A>T c.2426T>A (p.Val809Asp) c.2069T>A (p.Val690Asp) n.3127T>A | |
2 | g.166277045C>A | CA349077217 | SCN1A-AS1,SCN9A | c.2812G>T (p.Val938Phe) c.2779G>T (p.Val927Phe) c.469G>T (p.Val157Phe) c.1814G>T n.870-43C>A c.2425G>T (p.Val809Phe) c.2068G>T (p.Val690Phe) n.3126G>T | |
2 | g.166277045C>G | CA349077220 | SCN1A-AS1,SCN9A | c.2812G>C (p.Val938Leu) c.2779G>C (p.Val927Leu) c.469G>C (p.Val157Leu) c.1814G>C n.870-43C>G c.2425G>C (p.Val809Leu) c.2068G>C (p.Val690Leu) n.3126G>C | |
2 | g.166277045C>T | CA349077223 | SCN1A-AS1,SCN9A | c.2812G>A (p.Val938Ile) c.2779G>A (p.Val927Ile) c.469G>A (p.Val157Ile) c.1814G>A n.870-43C>T c.2425G>A (p.Val809Ile) c.2068G>A (p.Val690Ile) n.3126G>A | |
2 | g.166277046C>A | CA349077230 | SCN1A-AS1,SCN9A | c.2811G>T (p.Glu937Asp) c.2778G>T (p.Glu926Asp) c.468G>T (p.Glu156Asp) c.1813G>T n.870-42C>A c.2424G>T (p.Glu808Asp) c.2067G>T (p.Glu689Asp) n.3125G>T | |
2 | g.166277046C= | CA1304964741 | SCN1A-AS1,SCN9A | c.2811G= (p.Glu937=) c.2778G= (p.Glu926=) c.468G= (p.Glu156=) c.1813G= n.870-42C= c.2424G= (p.Glu808=) c.2067G= (p.Glu689=) n.3125G= | |
2 | g.166277046C>G | CA349077227 | SCN1A-AS1,SCN9A | c.2811G>C (p.Glu937Asp) c.2778G>C (p.Glu926Asp) c.468G>C (p.Glu156Asp) c.1813G>C n.870-42C>G c.2424G>C (p.Glu808Asp) c.2067G>C (p.Glu689Asp) n.3125G>C | |
2 | g.166277046C>T | CA429978022 | SCN1A-AS1,SCN9A | c.2811G>A (p.Glu937=) c.2778G>A (p.Glu926=) c.468G>A (p.Glu156=) c.1813G>A n.870-42C>T c.2424G>A (p.Glu808=) c.2067G>A (p.Glu689=) n.3125G>A | dbSNP |
2 | g.166277047T>A | CA1944200 | SCN1A-AS1,SCN9A | c.2810A>T (p.Glu937Val) c.2777A>T (p.Glu926Val) c.467A>T (p.Glu156Val) c.1812A>T n.870-41T>A c.2423A>T (p.Glu808Val) c.2066A>T (p.Glu689Val) n.3124A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277047T>C | CA349077236 | SCN1A-AS1,SCN9A | c.2810A>G (p.Glu937Gly) c.2777A>G (p.Glu926Gly) c.467A>G (p.Glu156Gly) c.1812A>G n.870-41T>C c.2423A>G (p.Glu808Gly) c.2066A>G (p.Glu689Gly) n.3124A>G | |
2 | g.166277047T>G | CA349077242 | SCN1A-AS1,SCN9A | c.2810A>C (p.Glu937Ala) c.2777A>C (p.Glu926Ala) c.467A>C (p.Glu156Ala) c.1812A>C n.870-41T>G c.2423A>C (p.Glu808Ala) c.2066A>C (p.Glu689Ala) n.3124A>C | |
2 | g.166277047T= | CA1304964748 | SCN1A-AS1,SCN9A | c.2810A= (p.Glu937=) c.2777A= (p.Glu926=) c.467A= (p.Glu156=) c.1812A= n.870-41T= c.2423A= (p.Glu808=) c.2066A= (p.Glu689=) n.3124A= | |
2 | g.166277048C>A | CA349077248 | SCN1A-AS1,SCN9A | c.2809G>T (p.Glu937Ter) c.2776G>T (p.Glu926Ter) c.466G>T (p.Glu156Ter) c.1811G>T n.870-40C>A c.2422G>T (p.Glu808Ter) c.2065G>T (p.Glu689Ter) n.3123G>T | dbSNP |
2 | g.166277048C= | CA1304964751 | SCN1A-AS1,SCN9A | c.2809G= (p.Glu937=) c.2776G= (p.Glu926=) c.466G= (p.Glu156=) c.1811G= n.870-40C= c.2422G= (p.Glu808=) c.2065G= (p.Glu689=) n.3123G= | |
2 | g.166277048C>G | CA349077262 | SCN1A-AS1,SCN9A | c.2809G>C (p.Glu937Gln) c.2776G>C (p.Glu926Gln) c.466G>C (p.Glu156Gln) c.1811G>C n.870-40C>G c.2422G>C (p.Glu808Gln) c.2065G>C (p.Glu689Gln) n.3123G>C | |
2 | g.166277048C>T | CA59794502 | SCN1A-AS1,SCN9A | c.2809G>A (p.Glu937Lys) c.2776G>A (p.Glu926Lys) c.466G>A (p.Glu156Lys) c.1811G>A n.870-40C>T c.2422G>A (p.Glu808Lys) c.2065G>A (p.Glu689Lys) n.3123G>A | dbSNP |
2 | g.166277049C>A | CA349077271 | SCN1A-AS1,SCN9A | c.2808G>T (p.Met936Ile) c.2775G>T (p.Met925Ile) c.465G>T (p.Met155Ile) c.1810G>T n.870-39C>A c.2421G>T (p.Met807Ile) c.2064G>T (p.Met688Ile) n.3122G>T | |
2 | g.166277049C>G | CA349077276 | SCN1A-AS1,SCN9A | c.2808G>C (p.Met936Ile) c.2775G>C (p.Met925Ile) c.465G>C (p.Met155Ile) c.1810G>C n.870-39C>G c.2421G>C (p.Met807Ile) c.2064G>C (p.Met688Ile) n.3122G>C | |
2 | g.166277049C>T | CA349077274 | SCN1A-AS1,SCN9A | c.2808G>A (p.Met936Ile) c.2775G>A (p.Met925Ile) c.465G>A (p.Met155Ile) c.1810G>A n.870-39C>T c.2421G>A (p.Met807Ile) c.2064G>A (p.Met688Ile) n.3122G>A | gnomAD v4 |
2 | g.166277050A>C | CA349077281 | SCN1A-AS1,SCN9A | c.2807T>G (p.Met936Arg) c.2774T>G (p.Met925Arg) c.464T>G (p.Met155Arg) c.1809T>G n.870-38A>C c.2420T>G (p.Met807Arg) c.2063T>G (p.Met688Arg) n.3121T>G | |
2 | g.166277050A>G | CA349077283 | SCN1A-AS1,SCN9A | c.2807T>C (p.Met936Thr) c.2774T>C (p.Met925Thr) c.464T>C (p.Met155Thr) c.1809T>C n.870-38A>G c.2420T>C (p.Met807Thr) c.2063T>C (p.Met688Thr) n.3121T>C | ClinVar dbSNP |
2 | g.166277050A>T | CA349077287 | SCN1A-AS1,SCN9A | c.2807T>A (p.Met936Lys) c.2774T>A (p.Met925Lys) c.464T>A (p.Met155Lys) c.1809T>A n.870-38A>T c.2420T>A (p.Met807Lys) c.2063T>A (p.Met688Lys) n.3121T>A | |
2 | g.166277051T>A | CA349077291 | SCN1A-AS1,SCN9A | c.2806A>T (p.Met936Leu) c.2773A>T (p.Met925Leu) c.463A>T (p.Met155Leu) c.1808A>T n.870-37T>A c.2419A>T (p.Met807Leu) c.2062A>T (p.Met688Leu) n.3120A>T | |
2 | g.166277051T>C | CA349077294 | SCN1A-AS1,SCN9A | c.2806A>G (p.Met936Val) c.2773A>G (p.Met925Val) c.463A>G (p.Met155Val) c.1808A>G n.870-37T>C c.2419A>G (p.Met807Val) c.2062A>G (p.Met688Val) n.3120A>G | dbSNP gnomAD v2 |
2 | g.166277051T>G | CA349077296 | SCN1A-AS1,SCN9A | c.2806A>C (p.Met936Leu) c.2773A>C (p.Met925Leu) c.463A>C (p.Met155Leu) c.1808A>C n.870-37T>G c.2419A>C (p.Met807Leu) c.2062A>C (p.Met688Leu) n.3120A>C | |
2 | g.166277051T= | CA1304964754 | SCN1A-AS1,SCN9A | c.2806A= (p.Met936=) c.2773A= (p.Met925=) c.463A= (p.Met155=) c.1808A= n.870-37T= c.2419A= (p.Met807=) c.2062A= (p.Met688=) n.3120A= | |
2 | g.166277052A= | CA1304964758 | SCN1A-AS1,SCN9A | c.2805T= (p.Cys935=) c.2772T= (p.Cys924=) c.462T= (p.Cys154=) c.1807T= n.870-36A= c.2418T= (p.Cys806=) c.2061T= (p.Cys687=) n.3119T= | |
2 | g.166277052A>C | CA349077300 | SCN1A-AS1,SCN9A | c.2805T>G (p.Cys935Trp) c.2772T>G (p.Cys924Trp) c.462T>G (p.Cys154Trp) c.1807T>G n.870-36A>C c.2418T>G (p.Cys806Trp) c.2061T>G (p.Cys687Trp) n.3119T>G | |
2 | g.166277052A>G | CA59794504 | SCN1A-AS1,SCN9A | c.2805T>C (p.Cys935=) c.2772T>C (p.Cys924=) c.462T>C (p.Cys154=) c.1807T>C n.870-36A>G c.2418T>C (p.Cys806=) c.2061T>C (p.Cys687=) n.3119T>C | dbSNP |
2 | g.166277052A>T | CA349077304 | SCN1A-AS1,SCN9A | c.2805T>A (p.Cys935Ter) c.2772T>A (p.Cys924Ter) c.462T>A (p.Cys154Ter) c.1807T>A n.870-36A>T c.2418T>A (p.Cys806Ter) c.2061T>A (p.Cys687Ter) n.3119T>A | |
2 | g.166277053C>A | CA349077307 | SCN1A-AS1,SCN9A | c.2804G>T (p.Cys935Phe) c.2771G>T (p.Cys924Phe) c.461G>T (p.Cys154Phe) c.1806G>T n.870-35C>A c.2417G>T (p.Cys806Phe) c.2060G>T (p.Cys687Phe) n.3118G>T | |
2 | g.166277053C= | CA1304964763 | SCN1A-AS1,SCN9A | c.2804G= (p.Cys935=) c.2771G= (p.Cys924=) c.461G= (p.Cys154=) c.1806G= n.870-35C= c.2417G= (p.Cys806=) c.2060G= (p.Cys687=) n.3118G= | |
2 | g.166277053C>G | CA349077311 | SCN1A-AS1,SCN9A | c.2804G>C (p.Cys935Ser) c.2771G>C (p.Cys924Ser) c.461G>C (p.Cys154Ser) c.1806G>C n.870-35C>G c.2417G>C (p.Cys806Ser) c.2060G>C (p.Cys687Ser) n.3118G>C | |
2 | g.166277053C>T | CA59794516 | SCN1A-AS1,SCN9A | c.2804G>A (p.Cys935Tyr) c.2771G>A (p.Cys924Tyr) c.461G>A (p.Cys154Tyr) c.1806G>A n.870-35C>T c.2417G>A (p.Cys806Tyr) c.2060G>A (p.Cys687Tyr) n.3118G>A | dbSNP gnomAD v4 |
2 | g.166277054A>C | CA349077318 | SCN1A-AS1,SCN9A | c.2803T>G (p.Cys935Gly) c.2770T>G (p.Cys924Gly) c.460T>G (p.Cys154Gly) c.1805T>G n.870-34A>C c.2416T>G (p.Cys806Gly) c.2059T>G (p.Cys687Gly) n.3117T>G | |
2 | g.166277054A>G | CA349077325 | SCN1A-AS1,SCN9A | c.2803T>C (p.Cys935Arg) c.2770T>C (p.Cys924Arg) c.460T>C (p.Cys154Arg) c.1805T>C n.870-34A>G c.2416T>C (p.Cys806Arg) c.2059T>C (p.Cys687Arg) n.3117T>C | |
2 | g.166277054A>T | CA349077322 | SCN1A-AS1,SCN9A | c.2803T>A (p.Cys935Ser) c.2770T>A (p.Cys924Ser) c.460T>A (p.Cys154Ser) c.1805T>A n.870-34A>T c.2416T>A (p.Cys806Ser) c.2059T>A (p.Cys687Ser) n.3117T>A | gnomAD v4 |
2 | g.166277055G>A | CA429978041 | SCN1A-AS1,SCN9A | c.2802C>T (p.Asp934=) c.2769C>T (p.Asp923=) c.459C>T (p.Asp153=) c.1804C>T n.870-33G>A c.2415C>T (p.Asp805=) c.2058C>T (p.Asp686=) n.3116C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277055G>C | CA349077328 | SCN1A-AS1,SCN9A | c.2802C>G (p.Asp934Glu) c.2769C>G (p.Asp923Glu) c.459C>G (p.Asp153Glu) c.1804C>G n.870-33G>C c.2415C>G (p.Asp805Glu) c.2058C>G (p.Asp686Glu) n.3116C>G | |
2 | g.166277055G= | CA1304964767 | SCN1A-AS1,SCN9A | c.2802C= (p.Asp934=) c.2769C= (p.Asp923=) c.459C= (p.Asp153=) c.1804C= n.870-33G= c.2415C= (p.Asp805=) c.2058C= (p.Asp686=) n.3116C= | |
2 | g.166277055G>T | CA349077331 | SCN1A-AS1,SCN9A | c.2802C>A (p.Asp934Glu) c.2769C>A (p.Asp923Glu) c.459C>A (p.Asp153Glu) c.1804C>A n.870-33G>T c.2415C>A (p.Asp805Glu) c.2058C>A (p.Asp686Glu) n.3116C>A | |
2 | g.166277056T>A | CA349077335 | SCN1A-AS1,SCN9A | c.2801A>T (p.Asp934Val) c.2768A>T (p.Asp923Val) c.458A>T (p.Asp153Val) c.1803A>T n.870-32T>A c.2414A>T (p.Asp805Val) c.2057A>T (p.Asp686Val) n.3115A>T | |
2 | g.166277056T>C | CA349077342 | SCN1A-AS1,SCN9A | c.2801A>G (p.Asp934Gly) c.2768A>G (p.Asp923Gly) c.458A>G (p.Asp153Gly) c.1803A>G n.870-32T>C c.2414A>G (p.Asp805Gly) c.2057A>G (p.Asp686Gly) n.3115A>G | |
2 | g.166277056T>G | CA349077338 | SCN1A-AS1,SCN9A | c.2801A>C (p.Asp934Ala) c.2768A>C (p.Asp923Ala) c.458A>C (p.Asp153Ala) c.1803A>C n.870-32T>G c.2414A>C (p.Asp805Ala) c.2057A>C (p.Asp686Ala) n.3115A>C | ClinVar dbSNP |
2 | g.166277056T= | CA1304964771 | SCN1A-AS1,SCN9A | c.2801A= (p.Asp934=) c.2768A= (p.Asp923=) c.458A= (p.Asp153=) c.1803A= n.870-32T= c.2414A= (p.Asp805=) c.2057A= (p.Asp686=) n.3115A= | |
2 | g.166277057C>A | CA349077346 | SCN1A-AS1,SCN9A | c.2800G>T (p.Asp934Tyr) c.2767G>T (p.Asp923Tyr) c.457G>T (p.Asp153Tyr) c.1802G>T n.870-31C>A c.2413G>T (p.Asp805Tyr) c.2056G>T (p.Asp686Tyr) n.3114G>T | ClinVar dbSNP |
2 | g.166277057C= | CA1304964777 | SCN1A-AS1,SCN9A | c.2800G= (p.Asp934=) c.2767G= (p.Asp923=) c.457G= (p.Asp153=) c.1802G= n.870-31C= c.2413G= (p.Asp805=) c.2056G= (p.Asp686=) n.3114G= | |
2 | g.166277057C>G | CA349077349 | SCN1A-AS1,SCN9A | c.2800G>C (p.Asp934His) c.2767G>C (p.Asp923His) c.457G>C (p.Asp153His) c.1802G>C n.870-31C>G c.2413G>C (p.Asp805His) c.2056G>C (p.Asp686His) n.3114G>C | |
2 | g.166277057C>T | CA1944201 | SCN1A-AS1,SCN9A | c.2800G>A (p.Asp934Asn) c.2767G>A (p.Asp923Asn) c.457G>A (p.Asp153Asn) c.1802G>A n.870-31C>T c.2413G>A (p.Asp805Asn) c.2056G>A (p.Asp686Asn) n.3114G>A | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.166277058C>A | CA349077352 | SCN1A-AS1,SCN9A | c.2799G>T (p.Trp933Cys) c.2766G>T (p.Trp922Cys) c.456G>T (p.Trp152Cys) c.1801G>T n.870-30C>A c.2412G>T (p.Trp804Cys) c.2055G>T (p.Trp685Cys) n.3113G>T | |
2 | g.166277058C= | CA1304964780 | SCN1A-AS1,SCN9A | c.2799G= (p.Trp933=) c.2766G= (p.Trp922=) c.456G= (p.Trp152=) c.1801G= n.870-30C= c.2412G= (p.Trp804=) c.2055G= (p.Trp685=) n.3113G= | |
2 | g.166277058C>G | CA349077356 | SCN1A-AS1,SCN9A | c.2799G>C (p.Trp933Cys) c.2766G>C (p.Trp922Cys) c.456G>C (p.Trp152Cys) c.1801G>C n.870-30C>G c.2412G>C (p.Trp804Cys) c.2055G>C (p.Trp685Cys) n.3113G>C | |
2 | g.166277058C>T | CA349077354 | SCN1A-AS1,SCN9A | c.2799G>A (p.Trp933Ter) c.2766G>A (p.Trp922Ter) c.456G>A (p.Trp152Ter) c.1801G>A n.870-30C>T c.2412G>A (p.Trp804Ter) c.2055G>A (p.Trp685Ter) n.3113G>A | dbSNP |
2 | g.166277059C>A | CA349077358 | SCN1A-AS1,SCN9A | c.2798G>T (p.Trp933Leu) c.2765G>T (p.Trp922Leu) c.455G>T (p.Trp152Leu) c.1800G>T n.870-29C>A c.2411G>T (p.Trp804Leu) c.2054G>T (p.Trp685Leu) n.3112G>T | |
2 | g.166277059C>G | CA349077360 | SCN1A-AS1,SCN9A | c.2798G>C (p.Trp933Ser) c.2765G>C (p.Trp922Ser) c.455G>C (p.Trp152Ser) c.1800G>C n.870-29C>G c.2411G>C (p.Trp804Ser) c.2054G>C (p.Trp685Ser) n.3112G>C | |
2 | g.166277059C>T | CA349077361 | SCN1A-AS1,SCN9A | c.2798G>A (p.Trp933Ter) c.2765G>A (p.Trp922Ter) c.455G>A (p.Trp152Ter) c.1800G>A n.870-29C>T c.2411G>A (p.Trp804Ter) c.2054G>A (p.Trp685Ter) n.3112G>A | |
2 | g.166277060A>C | CA349077363 | SCN1A-AS1,SCN9A | c.2797T>G (p.Trp933Gly) c.2764T>G (p.Trp922Gly) c.454T>G (p.Trp152Gly) c.1799T>G n.870-28A>C c.2410T>G (p.Trp804Gly) c.2053T>G (p.Trp685Gly) n.3111T>G | |
2 | g.166277060A>G | CA349077365 | SCN1A-AS1,SCN9A | c.2797T>C (p.Trp933Arg) c.2764T>C (p.Trp922Arg) c.454T>C (p.Trp152Arg) c.1799T>C n.870-28A>G c.2410T>C (p.Trp804Arg) c.2053T>C (p.Trp685Arg) n.3111T>C | |
2 | g.166277060A>T | CA349077366 | SCN1A-AS1,SCN9A | c.2797T>A (p.Trp933Arg) c.2764T>A (p.Trp922Arg) c.454T>A (p.Trp152Arg) c.1799T>A n.870-28A>T c.2410T>A (p.Trp804Arg) c.2053T>A (p.Trp685Arg) n.3111T>A | |
2 | g.166277061C>A | CA349077368 | SCN1A-AS1,SCN9A | c.2796G>T (p.Met932Ile) c.2763G>T (p.Met921Ile) c.453G>T (p.Met151Ile) c.1798G>T n.870-27C>A c.2409G>T (p.Met803Ile) c.2052G>T (p.Met684Ile) n.3110G>T | |
2 | g.166277061C>G | CA349077369 | SCN1A-AS1,SCN9A | c.2796G>C (p.Met932Ile) c.2763G>C (p.Met921Ile) c.453G>C (p.Met151Ile) c.1798G>C n.870-27C>G c.2409G>C (p.Met803Ile) c.2052G>C (p.Met684Ile) n.3110G>C | ClinVar dbSNP gnomAD v4 |
2 | g.166277061C>T | CA349077371 | SCN1A-AS1,SCN9A | c.2796G>A (p.Met932Ile) c.2763G>A (p.Met921Ile) c.453G>A (p.Met151Ile) c.1798G>A n.870-27C>T c.2409G>A (p.Met803Ile) c.2052G>A (p.Met684Ile) n.3110G>A | |
2 | g.166277062A= | CA1304964784 | SCN1A-AS1,SCN9A | c.2795T= (p.Met932=) c.2762T= (p.Met921=) c.452T= (p.Met151=) c.1797T= n.870-26A= c.2408T= (p.Met803=) c.2051T= (p.Met684=) n.3109T= | |
2 | g.166277062A>C | CA349077377 | SCN1A-AS1,SCN9A | c.2795T>G (p.Met932Arg) c.2762T>G (p.Met921Arg) c.452T>G (p.Met151Arg) c.1797T>G n.870-26A>C c.2408T>G (p.Met803Arg) c.2051T>G (p.Met684Arg) n.3109T>G | |
2 | g.166277062A>G | CA1944202 | SCN1A-AS1,SCN9A | c.2795T>C (p.Met932Thr) c.2762T>C (p.Met921Thr) c.452T>C (p.Met151Thr) c.1797T>C n.870-26A>G c.2408T>C (p.Met803Thr) c.2051T>C (p.Met684Thr) n.3109T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277062A>T | CA349077374 | SCN1A-AS1,SCN9A | c.2795T>A (p.Met932Lys) c.2762T>A (p.Met921Lys) c.452T>A (p.Met151Lys) c.1797T>A n.870-26A>T c.2408T>A (p.Met803Lys) c.2051T>A (p.Met684Lys) n.3109T>A | |
2 | g.166277063T>A | CA349077380 | SCN1A-AS1,SCN9A | c.2794A>T (p.Met932Leu) c.2761A>T (p.Met921Leu) c.451A>T (p.Met151Leu) c.1796A>T n.870-25T>A c.2407A>T (p.Met803Leu) c.2050A>T (p.Met684Leu) n.3108A>T | |
2 | g.166277063T>C | CA349077382 | SCN1A-AS1,SCN9A | c.2794A>G (p.Met932Val) c.2761A>G (p.Met921Val) c.451A>G (p.Met151Val) c.1796A>G n.870-25T>C c.2407A>G (p.Met803Val) c.2050A>G (p.Met684Val) n.3108A>G | |
2 | g.166277063T>G | CA349077384 | SCN1A-AS1,SCN9A | c.2794A>C (p.Met932Leu) c.2761A>C (p.Met921Leu) c.451A>C (p.Met151Leu) c.1796A>C n.870-25T>G c.2407A>C (p.Met803Leu) c.2050A>C (p.Met684Leu) n.3108A>C | |
2 | g.166277064G>A | CA429978057 | SCN1A-AS1,SCN9A | c.2793C>T (p.Thr931=) c.2760C>T (p.Thr920=) c.450C>T (p.Thr150=) c.1795C>T n.870-24G>A c.2406C>T (p.Thr802=) c.2049C>T (p.Thr683=) n.3107C>T | |
2 | g.166277064G>C | CA429978059 | SCN1A-AS1,SCN9A | c.2793C>G (p.Thr931=) c.2760C>G (p.Thr920=) c.450C>G (p.Thr150=) c.1795C>G n.870-24G>C c.2406C>G (p.Thr802=) c.2049C>G (p.Thr683=) n.3107C>G | |
2 | g.166277064G= | CA1304964789 | SCN1A-AS1,SCN9A | c.2793C= (p.Thr931=) c.2760C= (p.Thr920=) c.450C= (p.Thr150=) c.1795C= n.870-24G= c.2406C= (p.Thr802=) c.2049C= (p.Thr683=) n.3107C= | |
2 | g.166277064G>T | CA429978063 | SCN1A-AS1,SCN9A | c.2793C>A (p.Thr931=) c.2760C>A (p.Thr920=) c.450C>A (p.Thr150=) c.1795C>A n.870-24G>T c.2406C>A (p.Thr802=) c.2049C>A (p.Thr683=) n.3107C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277065G>A | CA349077387 | SCN1A-AS1,SCN9A | c.2792C>T (p.Thr931Ile) c.2759C>T (p.Thr920Ile) c.449C>T (p.Thr150Ile) c.1794C>T n.870-23G>A c.2405C>T (p.Thr802Ile) c.2048C>T (p.Thr683Ile) n.3106C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277065G>C | CA349077389 | SCN1A-AS1,SCN9A | c.2792C>G (p.Thr931Ser) c.2759C>G (p.Thr920Ser) c.449C>G (p.Thr150Ser) c.1794C>G n.870-23G>C c.2405C>G (p.Thr802Ser) c.2048C>G (p.Thr683Ser) n.3106C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277065G= | CA1304964797 | SCN1A-AS1,SCN9A | c.2792C= (p.Thr931=) c.2759C= (p.Thr920=) c.449C= (p.Thr150=) c.1794C= n.870-23G= c.2405C= (p.Thr802=) c.2048C= (p.Thr683=) n.3106C= | |
2 | g.166277065G>T | CA349077391 | SCN1A-AS1,SCN9A | c.2792C>A (p.Thr931Asn) c.2759C>A (p.Thr920Asn) c.449C>A (p.Thr150Asn) c.1794C>A n.870-23G>T c.2405C>A (p.Thr802Asn) c.2048C>A (p.Thr683Asn) n.3106C>A | |
2 | g.166277066T>A | CA349077393 | SCN1A-AS1,SCN9A | c.2791A>T (p.Thr931Ser) c.2758A>T (p.Thr920Ser) c.448A>T (p.Thr150Ser) c.1793A>T n.870-22T>A c.2404A>T (p.Thr802Ser) c.2047A>T (p.Thr683Ser) n.3105A>T | |
2 | g.166277066T>C | CA349077395 | SCN1A-AS1,SCN9A | c.2791A>G (p.Thr931Ala) c.2758A>G (p.Thr920Ala) c.448A>G (p.Thr150Ala) c.1793A>G n.870-22T>C c.2404A>G (p.Thr802Ala) c.2047A>G (p.Thr683Ala) n.3105A>G | |
2 | g.166277066T>G | CA349077398 | SCN1A-AS1,SCN9A | c.2791A>C (p.Thr931Pro) c.2758A>C (p.Thr920Pro) c.448A>C (p.Thr150Pro) c.1793A>C n.870-22T>G c.2404A>C (p.Thr802Pro) c.2047A>C (p.Thr683Pro) n.3105A>C | |
2 | g.166277067C>A | CA349077400 | SCN1A-AS1,SCN9A | c.2790G>T (p.Glu930Asp) c.2757G>T (p.Glu919Asp) c.447G>T (p.Glu149Asp) c.1792G>T n.870-21C>A c.2403G>T (p.Glu801Asp) c.2046G>T (p.Glu682Asp) n.3104G>T | |
2 | g.166277067C>G | CA349077402 | SCN1A-AS1,SCN9A | c.2790G>C (p.Glu930Asp) c.2757G>C (p.Glu919Asp) c.447G>C (p.Glu149Asp) c.1792G>C n.870-21C>G c.2403G>C (p.Glu801Asp) c.2046G>C (p.Glu682Asp) n.3104G>C | |
2 | g.166277067C>T | CA429978073 | SCN1A-AS1,SCN9A | c.2790G>A (p.Glu930=) c.2757G>A (p.Glu919=) c.447G>A (p.Glu149=) c.1792G>A n.870-21C>T c.2403G>A (p.Glu801=) c.2046G>A (p.Glu682=) n.3104G>A | |
2 | g.166277068T>A | CA349077405 | SCN1A-AS1,SCN9A | c.2789A>T (p.Glu930Val) c.2756A>T (p.Glu919Val) c.446A>T (p.Glu149Val) c.1791A>T n.870-20T>A c.2402A>T (p.Glu801Val) c.2045A>T (p.Glu682Val) n.3103A>T | |
2 | g.166277068T>C | CA349077407 | SCN1A-AS1,SCN9A | c.2789A>G (p.Glu930Gly) c.2756A>G (p.Glu919Gly) c.446A>G (p.Glu149Gly) c.1791A>G n.870-20T>C c.2402A>G (p.Glu801Gly) c.2045A>G (p.Glu682Gly) n.3103A>G | |
2 | g.166277068T>G | CA349077404 | SCN1A-AS1,SCN9A | c.2789A>C (p.Glu930Ala) c.2756A>C (p.Glu919Ala) c.446A>C (p.Glu149Ala) c.1791A>C n.870-20T>G c.2402A>C (p.Glu801Ala) c.2045A>C (p.Glu682Ala) n.3103A>C | |
2 | g.166277069C>A | CA349077410 | SCN1A-AS1,SCN9A | c.2788G>T (p.Glu930Ter) c.2755G>T (p.Glu919Ter) c.445G>T (p.Glu149Ter) c.1790G>T n.870-19C>A c.2401G>T (p.Glu801Ter) c.2044G>T (p.Glu682Ter) n.3102G>T | dbSNP gnomAD v4 |
2 | g.166277069C= | CA1304964806 | SCN1A-AS1,SCN9A | c.2788G= (p.Glu930=) c.2755G= (p.Glu919=) c.445G= (p.Glu149=) c.1790G= n.870-19C= c.2401G= (p.Glu801=) c.2044G= (p.Glu682=) n.3102G= | |
2 | g.166277069C>G | CA349077412 | SCN1A-AS1,SCN9A | c.2788G>C (p.Glu930Gln) c.2755G>C (p.Glu919Gln) c.445G>C (p.Glu149Gln) c.1790G>C n.870-19C>G c.2401G>C (p.Glu801Gln) c.2044G>C (p.Glu682Gln) n.3102G>C | |
2 | g.166277069C>T | CA1944203 | SCN1A-AS1,SCN9A | c.2788G>A (p.Glu930Lys) c.2755G>A (p.Glu919Lys) c.445G>A (p.Glu149Lys) c.1790G>A n.870-19C>T c.2401G>A (p.Glu801Lys) c.2044G>A (p.Glu682Lys) n.3102G>A | dbSNP ExAC gnomAD v2 |
2 | g.166277070T>A | CA429978078 | SCN1A-AS1,SCN9A | c.2787A>T (p.Ile929=) c.2754A>T (p.Ile918=) c.444A>T (p.Ile148=) c.1789A>T n.870-18T>A c.2400A>T (p.Ile800=) c.2043A>T (p.Ile681=) n.3101A>T | |
2 | g.166277070T>C | CA349077417 | SCN1A-AS1,SCN9A | c.2787A>G (p.Ile929Met) c.2754A>G (p.Ile918Met) c.444A>G (p.Ile148Met) c.1789A>G n.870-18T>C c.2400A>G (p.Ile800Met) c.2043A>G (p.Ile681Met) n.3101A>G | gnomAD v4 |
2 | g.166277070T>G | CA429978080 | SCN1A-AS1,SCN9A | c.2787A>C (p.Ile929=) c.2754A>C (p.Ile918=) c.444A>C (p.Ile148=) c.1789A>C n.870-18T>G c.2400A>C (p.Ile800=) c.2043A>C (p.Ile681=) n.3101A>C | |
2 | g.166277071_166277072del | CA537657175 | SCN1A-AS1,SCN9A | c.2786_2787del (p.Ile929ArgfsTer?) c.2753_2754del (p.Ile918ArgfsTer?) c.443_444del (p.Ile148ArgfsTer?) c.1788_1789del n.870-17_870-16del c.2399_2400del (p.Ile800ArgfsTer?) c.2042_2043del (p.Ile681ArgfsTer?) n.3100_3101del | gnomAD v2 gnomAD v4 |
2 | g.166277071A= | CA1304964808 | SCN1A-AS1,SCN9A | c.2786T= (p.Ile929=) c.2753T= (p.Ile918=) c.443T= (p.Ile148=) c.1788T= n.870-17A= c.2399T= (p.Ile800=) c.2042T= (p.Ile681=) n.3100T= | |
2 | g.166277071A>C | CA349077427 | SCN1A-AS1,SCN9A | c.2786T>G (p.Ile929Arg) c.2753T>G (p.Ile918Arg) c.443T>G (p.Ile148Arg) c.1788T>G n.870-17A>C c.2399T>G (p.Ile800Arg) c.2042T>G (p.Ile681Arg) n.3100T>G | |
2 | g.166277071A>G | CA1944204 | SCN1A-AS1,SCN9A | c.2786T>C (p.Ile929Thr) c.2753T>C (p.Ile918Thr) c.443T>C (p.Ile148Thr) c.1788T>C n.870-17A>G c.2399T>C (p.Ile800Thr) c.2042T>C (p.Ile681Thr) n.3100T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277071A>T | CA349077423 | SCN1A-AS1,SCN9A | c.2786T>A (p.Ile929Lys) c.2753T>A (p.Ile918Lys) c.443T>A (p.Ile148Lys) c.1788T>A n.870-17A>T c.2399T>A (p.Ile800Lys) c.2042T>A (p.Ile681Lys) n.3100T>A | |
2 | g.166277072T>A | CA349077430 | SCN1A-AS1,SCN9A | c.2785A>T (p.Ile929Leu) c.2752A>T (p.Ile918Leu) c.442A>T (p.Ile148Leu) c.1787A>T n.870-16T>A c.2398A>T (p.Ile800Leu) c.2041A>T (p.Ile681Leu) n.3099A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277072T>C | CA349077432 | SCN1A-AS1,SCN9A | c.2785A>G (p.Ile929Val) c.2752A>G (p.Ile918Val) c.442A>G (p.Ile148Val) c.1787A>G n.870-16T>C c.2398A>G (p.Ile800Val) c.2041A>G (p.Ile681Val) n.3099A>G | |
2 | g.166277072T>G | CA349077434 | SCN1A-AS1,SCN9A | c.2785A>C (p.Ile929Leu) c.2752A>C (p.Ile918Leu) c.442A>C (p.Ile148Leu) c.1787A>C n.870-16T>G c.2398A>C (p.Ile800Leu) c.2041A>C (p.Ile681Leu) n.3099A>C | |
2 | g.166277072T= | CA1304964812 | SCN1A-AS1,SCN9A | c.2785A= (p.Ile929=) c.2752A= (p.Ile918=) c.442A= (p.Ile148=) c.1787A= n.870-16T= c.2398A= (p.Ile800=) c.2041A= (p.Ile681=) n.3099A= | |
2 | g.166277077_166277083del | CA645519733 | SCN1A-AS1,SCN9A | c.2779_2785del (p.Glu927Ter) c.2746_2752del (p.Glu916Ter) c.436_442del (p.Glu146Ter) c.1781_1787del n.870-11_870-5del c.2392_2398del (p.Glu798Ter) c.2035_2041del (p.Glu679Ter) n.3093_3099del | COSMIC |
2 | g.166277073C>A | CA349077435 | SCN1A-AS1,SCN9A | c.2784G>T (p.Trp928Cys) c.2751G>T (p.Trp917Cys) c.441G>T (p.Trp147Cys) c.1786G>T n.870-15C>A c.2397G>T (p.Trp799Cys) c.2040G>T (p.Trp680Cys) n.3098G>T | |
2 | g.166277073C>G | CA349077436 | SCN1A-AS1,SCN9A | c.2784G>C (p.Trp928Cys) c.2751G>C (p.Trp917Cys) c.441G>C (p.Trp147Cys) c.1786G>C n.870-15C>G c.2397G>C (p.Trp799Cys) c.2040G>C (p.Trp680Cys) n.3098G>C | gnomAD v4 |
2 | g.166277073C>T | CA349077437 | SCN1A-AS1,SCN9A | c.2784G>A (p.Trp928Ter) c.2751G>A (p.Trp917Ter) c.441G>A (p.Trp147Ter) c.1786G>A n.870-15C>T c.2397G>A (p.Trp799Ter) c.2040G>A (p.Trp680Ter) n.3098G>A | |
2 | g.166277074C>A | CA349077438 | SCN1A-AS1,SCN9A | c.2783G>T (p.Trp928Leu) c.2750G>T (p.Trp917Leu) c.440G>T (p.Trp147Leu) c.1785G>T n.870-14C>A c.2396G>T (p.Trp799Leu) c.2039G>T (p.Trp680Leu) n.3097G>T | |
2 | g.166277074C>G | CA349077440 | SCN1A-AS1,SCN9A | c.2783G>C (p.Trp928Ser) c.2750G>C (p.Trp917Ser) c.440G>C (p.Trp147Ser) c.1785G>C n.870-14C>G c.2396G>C (p.Trp799Ser) c.2039G>C (p.Trp680Ser) n.3097G>C | |
2 | g.166277074C>T | CA349077439 | SCN1A-AS1,SCN9A | c.2783G>A (p.Trp928Ter) c.2750G>A (p.Trp917Ter) c.440G>A (p.Trp147Ter) c.1785G>A n.870-14C>T c.2396G>A (p.Trp799Ter) c.2039G>A (p.Trp680Ter) n.3097G>A | |
2 | g.166277075A>C | CA349077441 | SCN1A-AS1,SCN9A | c.2782T>G (p.Trp928Gly) c.2749T>G (p.Trp917Gly) c.439T>G (p.Trp147Gly) c.1784T>G n.870-13A>C c.2395T>G (p.Trp799Gly) c.2038T>G (p.Trp680Gly) n.3096T>G | |
2 | g.166277075A>G | CA349077442 | SCN1A-AS1,SCN9A | c.2782T>C (p.Trp928Arg) c.2749T>C (p.Trp917Arg) c.439T>C (p.Trp147Arg) c.1784T>C n.870-13A>G c.2395T>C (p.Trp799Arg) c.2038T>C (p.Trp680Arg) n.3096T>C | gnomAD v4 |
2 | g.166277075A>T | CA349077443 | SCN1A-AS1,SCN9A | c.2782T>A (p.Trp928Arg) c.2749T>A (p.Trp917Arg) c.439T>A (p.Trp147Arg) c.1784T>A n.870-13A>T c.2395T>A (p.Trp799Arg) c.2038T>A (p.Trp680Arg) n.3096T>A | |
2 | g.166277076C>A | CA349077446 | SCN1A-AS1,SCN9A | c.2781G>T (p.Glu927Asp) c.2748G>T (p.Glu916Asp) c.438G>T (p.Glu146Asp) c.1783G>T n.870-12C>A c.2394G>T (p.Glu798Asp) c.2037G>T (p.Glu679Asp) n.3095G>T | |
2 | g.166277076C>G | CA349077448 | SCN1A-AS1,SCN9A | c.2781G>C (p.Glu927Asp) c.2748G>C (p.Glu916Asp) c.438G>C (p.Glu146Asp) c.1783G>C n.870-12C>G c.2394G>C (p.Glu798Asp) c.2037G>C (p.Glu679Asp) n.3095G>C | |
2 | g.166277076C>T | CA429978087 | SCN1A-AS1,SCN9A | c.2781G>A (p.Glu927=) c.2748G>A (p.Glu916=) c.438G>A (p.Glu146=) c.1783G>A n.870-12C>T c.2394G>A (p.Glu798=) c.2037G>A (p.Glu679=) n.3095G>A | ClinVar dbSNP |
2 | g.166277077T>A | CA349077450 | SCN1A-AS1,SCN9A | c.2780A>T (p.Glu927Val) c.2747A>T (p.Glu916Val) c.437A>T (p.Glu146Val) c.1782A>T n.870-11T>A c.2393A>T (p.Glu798Val) c.2036A>T (p.Glu679Val) n.3094A>T | |
2 | g.166277077T>C | CA349077452 | SCN1A-AS1,SCN9A | c.2780A>G (p.Glu927Gly) c.2747A>G (p.Glu916Gly) c.437A>G (p.Glu146Gly) c.1782A>G n.870-11T>C c.2393A>G (p.Glu798Gly) c.2036A>G (p.Glu679Gly) n.3094A>G | |
2 | g.166277077T>G | CA349077457 | SCN1A-AS1,SCN9A | c.2780A>C (p.Glu927Ala) c.2747A>C (p.Glu916Ala) c.437A>C (p.Glu146Ala) c.1782A>C n.870-11T>G c.2393A>C (p.Glu798Ala) c.2036A>C (p.Glu679Ala) n.3094A>C | |
2 | g.166277078C>A | CA349077458 | SCN1A-AS1,SCN9A | c.2779G>T (p.Glu927Ter) c.2746G>T (p.Glu916Ter) c.436G>T (p.Glu146Ter) c.1781G>T n.870-10C>A c.2392G>T (p.Glu798Ter) c.2035G>T (p.Glu679Ter) n.3093G>T | dbSNP |
2 | g.166277078C= | CA1304964820 | SCN1A-AS1,SCN9A | c.2779G= (p.Glu927=) c.2746G= (p.Glu916=) c.436G= (p.Glu146=) c.1781G= n.870-10C= c.2392G= (p.Glu798=) c.2035G= (p.Glu679=) n.3093G= | |
2 | g.166277078C>G | CA349077459 | SCN1A-AS1,SCN9A | c.2779G>C (p.Glu927Gln) c.2746G>C (p.Glu916Gln) c.436G>C (p.Glu146Gln) c.1781G>C n.870-10C>G c.2392G>C (p.Glu798Gln) c.2035G>C (p.Glu679Gln) n.3093G>C | |
2 | g.166277078C>T | CA1944205 | SCN1A-AS1,SCN9A | c.2779G>A (p.Glu927Lys) c.2746G>A (p.Glu916Lys) c.436G>A (p.Glu146Lys) c.1781G>A n.870-10C>T c.2392G>A (p.Glu798Lys) c.2035G>A (p.Glu679Lys) n.3093G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277079T>A | CA429978096 | SCN1A-AS1,SCN9A | c.2778A>T (p.Gly926=) c.2745A>T (p.Gly915=) c.435A>T (p.Gly145=) c.1780A>T n.870-9T>A c.2391A>T (p.Gly797=) c.2034A>T (p.Gly678=) n.3092A>T | |
2 | g.166277079T>C | CA429978097 | SCN1A-AS1,SCN9A | c.2778A>G (p.Gly926=) c.2745A>G (p.Gly915=) c.435A>G (p.Gly145=) c.1780A>G n.870-9T>C c.2391A>G (p.Gly797=) c.2034A>G (p.Gly678=) n.3092A>G | gnomAD v4 |
2 | g.166277079T>G | CA429978098 | SCN1A-AS1,SCN9A | c.2778A>C (p.Gly926=) c.2745A>C (p.Gly915=) c.435A>C (p.Gly145=) c.1780A>C n.870-9T>G c.2391A>C (p.Gly797=) c.2034A>C (p.Gly678=) n.3092A>C | |
2 | g.166277080C>A | CA349077467 | SCN1A-AS1,SCN9A | c.2777G>T (p.Gly926Val) c.2744G>T (p.Gly915Val) c.434G>T (p.Gly145Val) c.1779G>T n.870-8C>A c.2390G>T (p.Gly797Val) c.2033G>T (p.Gly678Val) n.3091G>T | |
2 | g.166277080C>G | CA349077465 | SCN1A-AS1,SCN9A | c.2777G>C (p.Gly926Ala) c.2744G>C (p.Gly915Ala) c.434G>C (p.Gly145Ala) c.1779G>C n.870-8C>G c.2390G>C (p.Gly797Ala) c.2033G>C (p.Gly678Ala) n.3091G>C | |
2 | g.166277080C>T | CA349077463 | SCN1A-AS1,SCN9A | c.2777G>A (p.Gly926Glu) c.2744G>A (p.Gly915Glu) c.434G>A (p.Gly145Glu) c.1779G>A n.870-8C>T c.2390G>A (p.Gly797Glu) c.2033G>A (p.Gly678Glu) n.3091G>A | |
2 | g.166277081C>A | CA349077470 | SCN1A-AS1,SCN9A | c.2776G>T (p.Gly926Ter) c.2743G>T (p.Gly915Ter) c.433G>T (p.Gly145Ter) c.1778G>T n.870-7C>A c.2389G>T (p.Gly797Ter) c.2032G>T (p.Gly678Ter) n.3090G>T | dbSNP |
2 | g.166277081C= | CA1304964828 | SCN1A-AS1,SCN9A | c.2776G= (p.Gly926=) c.2743G= (p.Gly915=) c.433G= (p.Gly145=) c.1778G= n.870-7C= c.2389G= (p.Gly797=) c.2032G= (p.Gly678=) n.3090G= | |
2 | g.166277081C>G | CA349077474 | SCN1A-AS1,SCN9A | c.2776G>C (p.Gly926Arg) c.2743G>C (p.Gly915Arg) c.433G>C (p.Gly145Arg) c.1778G>C n.870-7C>G c.2389G>C (p.Gly797Arg) c.2032G>C (p.Gly678Arg) n.3090G>C | |
2 | g.166277081C>T | CA349077472 | SCN1A-AS1,SCN9A | c.2776G>A (p.Gly926Arg) c.2743G>A (p.Gly915Arg) c.433G>A (p.Gly145Arg) c.1778G>A n.870-7C>T c.2389G>A (p.Gly797Arg) c.2032G>A (p.Gly678Arg) n.3090G>A | |
2 | g.166277082A>C | CA349077476 | SCN1A-AS1,SCN9A | c.2775T>G (p.Cys925Trp) c.2742T>G (p.Cys914Trp) c.432T>G (p.Cys144Trp) c.1777T>G n.870-6A>C c.2388T>G (p.Cys796Trp) c.2031T>G (p.Cys677Trp) n.3089T>G | |
2 | g.166277082A>G | CA429978100 | SCN1A-AS1,SCN9A | c.2775T>C (p.Cys925=) c.2742T>C (p.Cys914=) c.432T>C (p.Cys144=) c.1777T>C n.870-6A>G c.2388T>C (p.Cys796=) c.2031T>C (p.Cys677=) n.3089T>C | |
2 | g.166277082A>T | CA349077478 | SCN1A-AS1,SCN9A | c.2775T>A (p.Cys925Ter) c.2742T>A (p.Cys914Ter) c.432T>A (p.Cys144Ter) c.1777T>A n.870-6A>T c.2388T>A (p.Cys796Ter) c.2031T>A (p.Cys677Ter) n.3089T>A | |
2 | g.166277083C>A | CA349077479 | SCN1A-AS1,SCN9A | c.2774G>T (p.Cys925Phe) c.2741G>T (p.Cys914Phe) c.431G>T (p.Cys144Phe) c.1776G>T n.870-5C>A c.2387G>T (p.Cys796Phe) c.2030G>T (p.Cys677Phe) n.3088G>T | |
2 | g.166277083C>G | CA349077480 | SCN1A-AS1,SCN9A | c.2774G>C (p.Cys925Ser) c.2741G>C (p.Cys914Ser) c.431G>C (p.Cys144Ser) c.1776G>C n.870-5C>G c.2387G>C (p.Cys796Ser) c.2030G>C (p.Cys677Ser) n.3088G>C | |
2 | g.166277083C>T | CA349077486 | SCN1A-AS1,SCN9A | c.2774G>A (p.Cys925Tyr) c.2741G>A (p.Cys914Tyr) c.431G>A (p.Cys144Tyr) c.1776G>A n.870-5C>T c.2387G>A (p.Cys796Tyr) c.2030G>A (p.Cys677Tyr) n.3088G>A | |
2 | g.166277084A>C | CA349077489 | SCN1A-AS1,SCN9A | c.2773T>G (p.Cys925Gly) c.2740T>G (p.Cys914Gly) c.430T>G (p.Cys144Gly) c.1775T>G n.870-4A>C c.2386T>G (p.Cys796Gly) c.2029T>G (p.Cys677Gly) n.3087T>G | gnomAD v4 |
2 | g.166277084A>G | CA349077490 | SCN1A-AS1,SCN9A | c.2773T>C (p.Cys925Arg) c.2740T>C (p.Cys914Arg) c.430T>C (p.Cys144Arg) c.1775T>C n.870-4A>G c.2386T>C (p.Cys796Arg) c.2029T>C (p.Cys677Arg) n.3087T>C | gnomAD v4 |
2 | g.166277084A>T | CA349077494 | SCN1A-AS1,SCN9A | c.2773T>A (p.Cys925Ser) c.2740T>A (p.Cys914Ser) c.430T>A (p.Cys144Ser) c.1775T>A n.870-4A>T c.2386T>A (p.Cys796Ser) c.2029T>A (p.Cys677Ser) n.3087T>A | |
2 | g.166277085C>A | CA429978102 | SCN1A-AS1,SCN9A | c.2772G>T (p.Leu924=) c.2739G>T (p.Leu913=) c.429G>T (p.Leu143=) c.1774G>T n.870-3C>A c.2385G>T (p.Leu795=) c.2028G>T (p.Leu676=) n.3086G>T | |
2 | g.166277085C>G | CA429978103 | SCN1A-AS1,SCN9A | c.2772G>C (p.Leu924=) c.2739G>C (p.Leu913=) c.429G>C (p.Leu143=) c.1774G>C n.870-3C>G c.2385G>C (p.Leu795=) c.2028G>C (p.Leu676=) n.3086G>C | |
2 | g.166277085C>T | CA429978104 | SCN1A-AS1,SCN9A | c.2772G>A (p.Leu924=) c.2739G>A (p.Leu913=) c.429G>A (p.Leu143=) c.1774G>A n.870-3C>T c.2385G>A (p.Leu795=) c.2028G>A (p.Leu676=) n.3086G>A | |
2 | g.166277086del | CA2661767149 | SCN1A-AS1,SCN9A | c.2771del (p.Leu924ArgfsTer6) c.2738del (p.Leu913ArgfsTer6) c.428del (p.Leu143ArgfsTer6) c.1773del n.870-2del c.2384del (p.Leu795ArgfsTer6) c.2027del (p.Leu676ArgfsTer6) n.3085del | gnomAD v4 |
2 | g.166277086A>C | CA349077495 | SCN1A-AS1,SCN9A | c.2771T>G (p.Leu924Arg) c.2738T>G (p.Leu913Arg) c.428T>G (p.Leu143Arg) c.1773T>G n.870-2A>C c.2384T>G (p.Leu795Arg) c.2027T>G (p.Leu676Arg) n.3085T>G | |
2 | g.166277086A>G | CA349077496 | SCN1A-AS1,SCN9A | c.2771T>C (p.Leu924Pro) c.2738T>C (p.Leu913Pro) c.428T>C (p.Leu143Pro) c.1773T>C n.870-2A>G c.2384T>C (p.Leu795Pro) c.2027T>C (p.Leu676Pro) n.3085T>C | |
2 | g.166277086A>T | CA349077498 | SCN1A-AS1,SCN9A | c.2771T>A (p.Leu924Gln) c.2738T>A (p.Leu913Gln) c.428T>A (p.Leu143Gln) c.1773T>A n.870-2A>T c.2384T>A (p.Leu795Gln) c.2027T>A (p.Leu676Gln) n.3085T>A | |
2 | g.166277087G>A | CA429978108 | SCN1A-AS1,SCN9A | c.2770C>T (p.Leu924=) c.2737C>T (p.Leu913=) c.427C>T (p.Leu143=) c.1772C>T n.870-1G>A c.2383C>T (p.Leu795=) c.2026C>T (p.Leu676=) n.3084C>T | COSMIC COSMIC |
2 | g.166277087G>C | CA349077500 | SCN1A-AS1,SCN9A | c.2770C>G (p.Leu924Val) c.2737C>G (p.Leu913Val) c.427C>G (p.Leu143Val) c.1772C>G n.870-1G>C c.2383C>G (p.Leu795Val) c.2026C>G (p.Leu676Val) n.3084C>G | |
2 | g.166277087G>T | CA349077501 | SCN1A-AS1,SCN9A | c.2770C>A (p.Leu924Met) c.2737C>A (p.Leu913Met) c.427C>A (p.Leu143Met) c.1772C>A n.870-1G>T c.2383C>A (p.Leu795Met) c.2026C>A (p.Leu676Met) n.3084C>A | |
2 | g.166277088C>A | CA429978109 | SCN1A-AS1,SCN9A | c.2769G>T (p.Val923=) c.2736G>T (p.Val912=) c.426G>T (p.Val142=) c.1771G>T n.870C>A c.2382G>T (p.Val794=) c.2025G>T (p.Val675=) n.3083G>T | |
2 | g.166277088C>G | CA429978112 | SCN1A-AS1,SCN9A | c.2769G>C (p.Val923=) c.2736G>C (p.Val912=) c.426G>C (p.Val142=) c.1771G>C n.870C>G c.2382G>C (p.Val794=) c.2025G>C (p.Val675=) n.3083G>C | |
2 | g.166277088C>T | CA429978111 | SCN1A-AS1,SCN9A | c.2769G>A (p.Val923=) c.2736G>A (p.Val912=) c.426G>A (p.Val142=) c.1771G>A n.870C>T c.2382G>A (p.Val794=) c.2025G>A (p.Val675=) n.3083G>A | |
2 | g.166277089A>C | CA349077502 | SCN1A-AS1,SCN9A | c.2768T>G (p.Val923Gly) c.2735T>G (p.Val912Gly) c.425T>G (p.Val142Gly) c.1770T>G n.871A>C c.2381T>G (p.Val794Gly) c.2024T>G (p.Val675Gly) n.3082T>G | |
2 | g.166277089A>G | CA349077506 | SCN1A-AS1,SCN9A | c.2768T>C (p.Val923Ala) c.2735T>C (p.Val912Ala) c.425T>C (p.Val142Ala) c.1770T>C n.871A>G c.2381T>C (p.Val794Ala) c.2024T>C (p.Val675Ala) n.3082T>C | |
2 | g.166277089A>T | CA349077504 | SCN1A-AS1,SCN9A | c.2768T>A (p.Val923Glu) c.2735T>A (p.Val912Glu) c.425T>A (p.Val142Glu) c.1770T>A n.871A>T c.2381T>A (p.Val794Glu) c.2024T>A (p.Val675Glu) n.3082T>A | |
2 | g.166277090C>A | CA349077508 | SCN1A-AS1,SCN9A | c.2767G>T (p.Val923Leu) c.2734G>T (p.Val912Leu) c.424G>T (p.Val142Leu) c.1769G>T n.872C>A c.2380G>T (p.Val794Leu) c.2023G>T (p.Val675Leu) n.3081G>T | |
2 | g.166277090C= | CA1304964833 | SCN1A-AS1,SCN9A | c.2767G= (p.Val923=) c.2734G= (p.Val912=) c.424G= (p.Val142=) c.1769G= n.872C= c.2380G= (p.Val794=) c.2023G= (p.Val675=) n.3081G= | |
2 | g.166277090C>G | CA349077509 | SCN1A-AS1,SCN9A | c.2767G>C (p.Val923Leu) c.2734G>C (p.Val912Leu) c.424G>C (p.Val142Leu) c.1769G>C n.872C>G c.2380G>C (p.Val794Leu) c.2023G>C (p.Val675Leu) n.3081G>C | gnomAD v4 |
2 | g.166277090C>T | CA1944206 | SCN1A-AS1,SCN9A | c.2767G>A (p.Val923Met) c.2734G>A (p.Val912Met) c.424G>A (p.Val142Met) c.1769G>A n.872C>T c.2380G>A (p.Val794Met) c.2023G>A (p.Val675Met) n.3081G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277091G>A | CA1944207 | SCN1A-AS1,SCN9A | c.2766C>T (p.Arg922=) c.2733C>T (p.Arg911=) c.423C>T (p.Arg141=) c.1768C>T n.873G>A c.2379C>T (p.Arg793=) c.2022C>T (p.Arg674=) n.3080C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277091G>C | CA429978116 | SCN1A-AS1,SCN9A | c.2766C>G (p.Arg922=) c.2733C>G (p.Arg911=) c.423C>G (p.Arg141=) c.1768C>G n.873G>C c.2379C>G (p.Arg793=) c.2022C>G (p.Arg674=) n.3080C>G | |
2 | g.166277091G= | CA1304964839 | SCN1A-AS1,SCN9A | c.2766C= (p.Arg922=) c.2733C= (p.Arg911=) c.423C= (p.Arg141=) c.1768C= n.873G= c.2379C= (p.Arg793=) c.2022C= (p.Arg674=) n.3080C= | |
2 | g.166277091G>T | CA429978117 | SCN1A-AS1,SCN9A | c.2766C>A (p.Arg922=) c.2733C>A (p.Arg911=) c.423C>A (p.Arg141=) c.1768C>A n.873G>T c.2379C>A (p.Arg793=) c.2022C>A (p.Arg674=) n.3080C>A | |
2 | g.166277092C>A | CA349077514 | SCN1A-AS1,SCN9A | c.2765G>T (p.Arg922Leu) c.2732G>T (p.Arg911Leu) c.422G>T (p.Arg141Leu) c.1767G>T n.874C>A c.2378G>T (p.Arg793Leu) c.2021G>T (p.Arg674Leu) n.3079G>T | |
2 | g.166277092C= | CA1304964848 | SCN1A-AS1,SCN9A | c.2765G= (p.Arg922=) c.2732G= (p.Arg911=) c.422G= (p.Arg141=) c.1767G= n.874C= c.2378G= (p.Arg793=) c.2021G= (p.Arg674=) n.3079G= | |
2 | g.166277092C>G | CA349077516 | SCN1A-AS1,SCN9A | c.2765G>C (p.Arg922Pro) c.2732G>C (p.Arg911Pro) c.422G>C (p.Arg141Pro) c.1767G>C n.874C>G c.2378G>C (p.Arg793Pro) c.2021G>C (p.Arg674Pro) n.3079G>C | |
2 | g.166277092C>T | CA349077518 | SCN1A-AS1,SCN9A | c.2765G>A (p.Arg922His) c.2732G>A (p.Arg911His) c.422G>A (p.Arg141His) c.1767G>A n.874C>T c.2378G>A (p.Arg793His) c.2021G>A (p.Arg674His) n.3079G>A | ClinVar dbSNP gnomAD v4 |
2 | g.166277093G>A | CA1944208 | SCN1A-AS1,SCN9A | c.2764C>T (p.Arg922Cys) c.2731C>T (p.Arg911Cys) c.421C>T (p.Arg141Cys) c.1766C>T n.875G>A c.2377C>T (p.Arg793Cys) c.2020C>T (p.Arg674Cys) n.3078C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277093G>C | CA349077519 | SCN1A-AS1,SCN9A | c.2764C>G (p.Arg922Gly) c.2731C>G (p.Arg911Gly) c.421C>G (p.Arg141Gly) c.1766C>G n.875G>C c.2377C>G (p.Arg793Gly) c.2020C>G (p.Arg674Gly) n.3078C>G | |
2 | g.166277093G= | CA1304964860 | SCN1A-AS1,SCN9A | c.2764C= (p.Arg922=) c.2731C= (p.Arg911=) c.421C= (p.Arg141=) c.1766C= n.875G= c.2377C= (p.Arg793=) c.2020C= (p.Arg674=) n.3078C= | |
2 | g.166277093G>T | CA349077521 | SCN1A-AS1,SCN9A | c.2764C>A (p.Arg922Ser) c.2731C>A (p.Arg911Ser) c.421C>A (p.Arg141Ser) c.1766C>A n.875G>T c.2377C>A (p.Arg793Ser) c.2020C>A (p.Arg674Ser) n.3078C>A | |
2 | g.166277094G>A | CA429978122 | SCN1A-AS1,SCN9A | c.2763C>T (p.Phe921=) c.2730C>T (p.Phe910=) c.420C>T (p.Phe140=) c.1765C>T n.876G>A c.2376C>T (p.Phe792=) c.2019C>T (p.Phe673=) n.3077C>T | |
2 | g.166277094G>C | CA349077524 | SCN1A-AS1,SCN9A | c.2763C>G (p.Phe921Leu) c.2730C>G (p.Phe910Leu) c.420C>G (p.Phe140Leu) c.1765C>G n.876G>C c.2376C>G (p.Phe792Leu) c.2019C>G (p.Phe673Leu) n.3077C>G | |
2 | g.166277094G>T | CA349077525 | SCN1A-AS1,SCN9A | c.2763C>A (p.Phe921Leu) c.2730C>A (p.Phe910Leu) c.420C>A (p.Phe140Leu) c.1765C>A n.876G>T c.2376C>A (p.Phe792Leu) c.2019C>A (p.Phe673Leu) n.3077C>A | |
2 | g.166277095A>C | CA349077528 | SCN1A-AS1,SCN9A | c.2762T>G (p.Phe921Cys) c.2729T>G (p.Phe910Cys) c.419T>G (p.Phe140Cys) c.1764T>G n.877A>C c.2375T>G (p.Phe792Cys) c.2018T>G (p.Phe673Cys) n.3076T>G | |
2 | g.166277095A>G | CA349077530 | SCN1A-AS1,SCN9A | c.2762T>C (p.Phe921Ser) c.2729T>C (p.Phe910Ser) c.419T>C (p.Phe140Ser) c.1764T>C n.877A>G c.2375T>C (p.Phe792Ser) c.2018T>C (p.Phe673Ser) n.3076T>C | |
2 | g.166277095A>T | CA349077531 | SCN1A-AS1,SCN9A | c.2762T>A (p.Phe921Tyr) c.2729T>A (p.Phe910Tyr) c.419T>A (p.Phe140Tyr) c.1764T>A n.877A>T c.2375T>A (p.Phe792Tyr) c.2018T>A (p.Phe673Tyr) n.3076T>A | COSMIC COSMIC |
2 | g.166277096A>C | CA349077532 | SCN1A-AS1,SCN9A | c.2761T>G (p.Phe921Val) c.2728T>G (p.Phe910Val) c.418T>G (p.Phe140Val) c.1763T>G n.878A>C c.2374T>G (p.Phe792Val) c.2017T>G (p.Phe673Val) n.3075T>G | |
2 | g.166277096A>G | CA349077534 | SCN1A-AS1,SCN9A | c.2761T>C (p.Phe921Leu) c.2728T>C (p.Phe910Leu) c.418T>C (p.Phe140Leu) c.1763T>C n.878A>G c.2374T>C (p.Phe792Leu) c.2017T>C (p.Phe673Leu) n.3075T>C | gnomAD v4 |
2 | g.166277096A>T | CA349077536 | SCN1A-AS1,SCN9A | c.2761T>A (p.Phe921Ile) c.2728T>A (p.Phe910Ile) c.418T>A (p.Phe140Ile) c.1763T>A n.878A>T c.2374T>A (p.Phe792Ile) c.2017T>A (p.Phe673Ile) n.3075T>A | |
2 | g.166277097C>A | CA429978128 | SCN1A-AS1,SCN9A | c.2760G>T (p.Val920=) c.2727G>T (p.Val909=) c.417G>T (p.Val139=) c.1762G>T n.879C>A c.2373G>T (p.Val791=) c.2016G>T (p.Val672=) n.3074G>T | gnomAD v4 |
2 | g.166277097C= | CA1304964869 | SCN1A-AS1,SCN9A | c.2760G= (p.Val920=) c.2727G= (p.Val909=) c.417G= (p.Val139=) c.1762G= n.879C= c.2373G= (p.Val791=) c.2016G= (p.Val672=) n.3074G= | |
2 | g.166277097C>G | CA429978130 | SCN1A-AS1,SCN9A | c.2760G>C (p.Val920=) c.2727G>C (p.Val909=) c.417G>C (p.Val139=) c.1762G>C n.879C>G c.2373G>C (p.Val791=) c.2016G>C (p.Val672=) n.3074G>C | |
2 | g.166277097C>T | CA1944209 | SCN1A-AS1,SCN9A | c.2760G>A (p.Val920=) c.2727G>A (p.Val909=) c.417G>A (p.Val139=) c.1762G>A n.879C>T c.2373G>A (p.Val791=) c.2016G>A (p.Val672=) n.3074G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277098A>C | CA349077539 | SCN1A-AS1,SCN9A | c.2759T>G (p.Val920Gly) c.2726T>G (p.Val909Gly) c.416T>G (p.Val139Gly) c.1761T>G n.880A>C c.2372T>G (p.Val791Gly) c.2015T>G (p.Val672Gly) n.3073T>G | |
2 | g.166277098A>G | CA349077541 | SCN1A-AS1,SCN9A | c.2759T>C (p.Val920Ala) c.2726T>C (p.Val909Ala) c.416T>C (p.Val139Ala) c.1761T>C n.880A>G c.2372T>C (p.Val791Ala) c.2015T>C (p.Val672Ala) n.3073T>C | |
2 | g.166277098A>T | CA349077542 | SCN1A-AS1,SCN9A | c.2759T>A (p.Val920Glu) c.2726T>A (p.Val909Glu) c.416T>A (p.Val139Glu) c.1761T>A n.880A>T c.2372T>A (p.Val791Glu) c.2015T>A (p.Val672Glu) n.3073T>A | gnomAD v4 |
2 | g.166277099C>A | CA349077544 | SCN1A-AS1,SCN9A | c.2758G>T (p.Val920Leu) c.2725G>T (p.Val909Leu) c.415G>T (p.Val139Leu) c.1760G>T n.881C>A c.2371G>T (p.Val791Leu) c.2014G>T (p.Val672Leu) n.3072G>T | |
2 | g.166277099C>G | CA349077546 | SCN1A-AS1,SCN9A | c.2758G>C (p.Val920Leu) c.2725G>C (p.Val909Leu) c.415G>C (p.Val139Leu) c.1760G>C n.881C>G c.2371G>C (p.Val791Leu) c.2014G>C (p.Val672Leu) n.3072G>C | |
2 | g.166277099C>T | CA349077548 | SCN1A-AS1,SCN9A | c.2758G>A (p.Val920Met) c.2725G>A (p.Val909Met) c.415G>A (p.Val139Met) c.1760G>A n.881C>T c.2371G>A (p.Val791Met) c.2014G>A (p.Val672Met) n.3072G>A | |
2 | g.166277100A= | CA1304964878 | SCN1A-AS1,SCN9A | c.2757T= (p.Ile919=) c.2724T= (p.Ile908=) c.414T= (p.Ile138=) c.1759T= n.882A= c.2370T= (p.Ile790=) c.2013T= (p.Ile671=) n.3071T= | |
2 | g.166277100A>C | CA349077551 | SCN1A-AS1,SCN9A | c.2757T>G (p.Ile919Met) c.2724T>G (p.Ile908Met) c.414T>G (p.Ile138Met) c.1759T>G n.882A>C c.2370T>G (p.Ile790Met) c.2013T>G (p.Ile671Met) n.3071T>G | |
2 | g.166277100A>G | CA429978135 | SCN1A-AS1,SCN9A | c.2757T>C (p.Ile919=) c.2724T>C (p.Ile908=) c.414T>C (p.Ile138=) c.1759T>C n.882A>G c.2370T>C (p.Ile790=) c.2013T>C (p.Ile671=) n.3071T>C | |
2 | g.166277100A>T | CA429978134 | SCN1A-AS1,SCN9A | c.2757T>A (p.Ile919=) c.2724T>A (p.Ile908=) c.414T>A (p.Ile138=) c.1759T>A n.882A>T c.2370T>A (p.Ile790=) c.2013T>A (p.Ile671=) n.3071T>A | ClinVar dbSNP |
2 | g.166277101A= | CA1304964885 | SCN1A-AS1,SCN9A | c.2756T= (p.Ile919=) c.2723T= (p.Ile908=) c.413T= (p.Ile138=) c.1758T= n.883A= c.2369T= (p.Ile790=) c.2012T= (p.Ile671=) n.3070T= | |
2 | g.166277101A>C | CA349077553 | SCN1A-AS1,SCN9A | c.2756T>G (p.Ile919Ser) c.2723T>G (p.Ile908Ser) c.413T>G (p.Ile138Ser) c.1758T>G n.883A>C c.2369T>G (p.Ile790Ser) c.2012T>G (p.Ile671Ser) n.3070T>G | |
2 | g.166277101A>G | CA349077555 | SCN1A-AS1,SCN9A | c.2756T>C (p.Ile919Thr) c.2723T>C (p.Ile908Thr) c.413T>C (p.Ile138Thr) c.1758T>C n.883A>G c.2369T>C (p.Ile790Thr) c.2012T>C (p.Ile671Thr) n.3070T>C | dbSNP |
2 | g.166277101A>T | CA349077557 | SCN1A-AS1,SCN9A | c.2756T>A (p.Ile919Asn) c.2723T>A (p.Ile908Asn) c.413T>A (p.Ile138Asn) c.1758T>A n.883A>T c.2369T>A (p.Ile790Asn) c.2012T>A (p.Ile671Asn) n.3070T>A | |
2 | g.166277102_166277104del | CA2573133704 | SCN1A-AS1,SCN9A | c.2754_2756del (p.Ile919del) c.2721_2723del (p.Ile908del) c.411_413del (p.Ile138del) c.1756_1758del n.884_886del c.2367_2369del (p.Ile790del) c.2010_2012del (p.Ile671del) n.3068_3070del | ClinVar dbSNP |
2 | g.166277102T>A | CA349077559 | SCN1A-AS1,SCN9A | c.2755A>T (p.Ile919Phe) c.2722A>T (p.Ile908Phe) c.412A>T (p.Ile138Phe) c.1757A>T n.884T>A c.2368A>T (p.Ile790Phe) c.2011A>T (p.Ile671Phe) n.3069A>T | |
2 | g.166277102T>C | CA349077561 | SCN1A-AS1,SCN9A | c.2755A>G (p.Ile919Val) c.2722A>G (p.Ile908Val) c.412A>G (p.Ile138Val) c.1757A>G n.884T>C c.2368A>G (p.Ile790Val) c.2011A>G (p.Ile671Val) n.3069A>G | |
2 | g.166277102T>G | CA349077563 | SCN1A-AS1,SCN9A | c.2755A>C (p.Ile919Leu) c.2722A>C (p.Ile908Leu) c.412A>C (p.Ile138Leu) c.1757A>C n.884T>G c.2368A>C (p.Ile790Leu) c.2011A>C (p.Ile671Leu) n.3069A>C | |
2 | g.166277103C>A | CA429978140 | SCN1A-AS1,SCN9A | c.2754G>T (p.Leu918=) c.2721G>T (p.Leu907=) c.411G>T (p.Leu137=) c.1756G>T n.885C>A c.2367G>T (p.Leu789=) c.2010G>T (p.Leu670=) n.3068G>T | |
2 | g.166277103C>G | CA429978143 | SCN1A-AS1,SCN9A | c.2754G>C (p.Leu918=) c.2721G>C (p.Leu907=) c.411G>C (p.Leu137=) c.1756G>C n.885C>G c.2367G>C (p.Leu789=) c.2010G>C (p.Leu670=) n.3068G>C | |
2 | g.166277103C>T | CA429978145 | SCN1A-AS1,SCN9A | c.2754G>A (p.Leu918=) c.2721G>A (p.Leu907=) c.411G>A (p.Leu137=) c.1756G>A n.885C>T c.2367G>A (p.Leu789=) c.2010G>A (p.Leu670=) n.3068G>A | gnomAD v4 |
2 | g.166277104A>C | CA349077564 | SCN1A-AS1,SCN9A | c.2753T>G (p.Leu918Arg) c.2720T>G (p.Leu907Arg) c.410T>G (p.Leu137Arg) c.1755T>G n.886A>C c.2366T>G (p.Leu789Arg) c.2009T>G (p.Leu670Arg) n.3067T>G | |
2 | g.166277104A>G | CA349077565 | SCN1A-AS1,SCN9A | c.2753T>C (p.Leu918Pro) c.2720T>C (p.Leu907Pro) c.410T>C (p.Leu137Pro) c.1755T>C n.886A>G c.2366T>C (p.Leu789Pro) c.2009T>C (p.Leu670Pro) n.3067T>C | |
2 | g.166277104A>T | CA349077567 | SCN1A-AS1,SCN9A | c.2753T>A (p.Leu918Gln) c.2720T>A (p.Leu907Gln) c.410T>A (p.Leu137Gln) c.1755T>A n.886A>T c.2366T>A (p.Leu789Gln) c.2009T>A (p.Leu670Gln) n.3067T>A | |
2 | g.166277105G>A | CA429978148 | SCN1A-AS1,SCN9A | c.2752C>T (p.Leu918=) c.2719C>T (p.Leu907=) c.409C>T (p.Leu137=) c.1754C>T n.887G>A c.2365C>T (p.Leu789=) c.2008C>T (p.Leu670=) n.3066C>T | gnomAD v4 |
2 | g.166277105G>C | CA349077568 | SCN1A-AS1,SCN9A | c.2752C>G (p.Leu918Val) c.2719C>G (p.Leu907Val) c.409C>G (p.Leu137Val) c.1754C>G n.887G>C c.2365C>G (p.Leu789Val) c.2008C>G (p.Leu670Val) n.3066C>G | gnomAD v4 |
2 | g.166277105G>T | CA349077570 | SCN1A-AS1,SCN9A | c.2752C>A (p.Leu918Met) c.2719C>A (p.Leu907Met) c.409C>A (p.Leu137Met) c.1754C>A n.887G>T c.2365C>A (p.Leu789Met) c.2008C>A (p.Leu670Met) n.3066C>A | |
2 | g.166277106G>A | CA429978152 | SCN1A-AS1,SCN9A | c.2751C>T (p.Phe917=) c.2718C>T (p.Phe906=) c.408C>T (p.Phe136=) c.1753C>T n.888G>A c.2364C>T (p.Phe788=) c.2007C>T (p.Phe669=) n.3065C>T | COSMIC COSMIC |
2 | g.166277106G>C | CA349077572 | SCN1A-AS1,SCN9A | c.2751C>G (p.Phe917Leu) c.2718C>G (p.Phe906Leu) c.408C>G (p.Phe136Leu) c.1753C>G n.888G>C c.2364C>G (p.Phe788Leu) c.2007C>G (p.Phe669Leu) n.3065C>G | |
2 | g.166277106G>T | CA349077573 | SCN1A-AS1,SCN9A | c.2751C>A (p.Phe917Leu) c.2718C>A (p.Phe906Leu) c.408C>A (p.Phe136Leu) c.1753C>A n.888G>T c.2364C>A (p.Phe788Leu) c.2007C>A (p.Phe669Leu) n.3065C>A | |
2 | g.166277107A>C | CA349077578 | SCN1A-AS1,SCN9A | c.2750T>G (p.Phe917Cys) c.2717T>G (p.Phe906Cys) c.407T>G (p.Phe136Cys) c.1752T>G n.889A>C c.2363T>G (p.Phe788Cys) c.2006T>G (p.Phe669Cys) n.3064T>G | |
2 | g.166277107A>G | CA349077580 | SCN1A-AS1,SCN9A | c.2750T>C (p.Phe917Ser) c.2717T>C (p.Phe906Ser) c.407T>C (p.Phe136Ser) c.1752T>C n.889A>G c.2363T>C (p.Phe788Ser) c.2006T>C (p.Phe669Ser) n.3064T>C | |
2 | g.166277107A>T | CA349077576 | SCN1A-AS1,SCN9A | c.2750T>A (p.Phe917Tyr) c.2717T>A (p.Phe906Tyr) c.407T>A (p.Phe136Tyr) c.1752T>A n.889A>T c.2363T>A (p.Phe788Tyr) c.2006T>A (p.Phe669Tyr) n.3064T>A | |
2 | g.166277108A>C | CA349077586 | SCN1A-AS1,SCN9A | c.2749T>G (p.Phe917Val) c.2716T>G (p.Phe906Val) c.406T>G (p.Phe136Val) c.1751T>G n.890A>C c.2362T>G (p.Phe788Val) c.2005T>G (p.Phe669Val) n.3063T>G | |
2 | g.166277108A>G | CA349077583 | SCN1A-AS1,SCN9A | c.2749T>C (p.Phe917Leu) c.2716T>C (p.Phe906Leu) c.406T>C (p.Phe136Leu) c.1751T>C n.890A>G c.2362T>C (p.Phe788Leu) c.2005T>C (p.Phe669Leu) n.3063T>C | |
2 | g.166277108A>T | CA349077585 | SCN1A-AS1,SCN9A | c.2749T>A (p.Phe917Ile) c.2716T>A (p.Phe906Ile) c.406T>A (p.Phe136Ile) c.1751T>A n.890A>T c.2362T>A (p.Phe788Ile) c.2005T>A (p.Phe669Ile) n.3063T>A |