Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | 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 |