Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166242548A>C | CA349070189 | SCN1A-AS1,SCN9A | c.3581T>G (p.Phe1194Cys) c.3548T>G (p.Phe1183Cys) n.612-5647A>C c.3194T>G (p.Phe1065Cys) c.2837T>G (p.Phe946Cys) | |
2 | g.166242548A>G | CA349070191 | SCN1A-AS1,SCN9A | c.3581T>C (p.Phe1194Ser) c.3548T>C (p.Phe1183Ser) n.612-5647A>G c.3194T>C (p.Phe1065Ser) c.2837T>C (p.Phe946Ser) | gnomAD v4 |
2 | g.166242548A>T | CA349070193 | SCN1A-AS1,SCN9A | c.3581T>A (p.Phe1194Tyr) c.3548T>A (p.Phe1183Tyr) n.612-5647A>T c.3194T>A (p.Phe1065Tyr) c.2837T>A (p.Phe946Tyr) | gnomAD v4 |
2 | g.166242549A>C | CA349070199 | SCN1A-AS1,SCN9A | c.3580T>G (p.Phe1194Val) c.3547T>G (p.Phe1183Val) n.612-5646A>C c.3193T>G (p.Phe1065Val) c.2836T>G (p.Phe946Val) | |
2 | g.166242549A>G | CA349070198 | SCN1A-AS1,SCN9A | c.3580T>C (p.Phe1194Leu) c.3547T>C (p.Phe1183Leu) n.612-5646A>G c.3193T>C (p.Phe1065Leu) c.2836T>C (p.Phe946Leu) | |
2 | g.166242549A>T | CA349070195 | SCN1A-AS1,SCN9A | c.3580T>A (p.Phe1194Ile) c.3547T>A (p.Phe1183Ile) n.612-5646A>T c.3193T>A (p.Phe1065Ile) c.2836T>A (p.Phe946Ile) | |
2 | g.166242550C>A | CA349070201 | SCN1A-AS1,SCN9A | c.3579G>T (p.Trp1193Cys) c.3546G>T (p.Trp1182Cys) n.612-5645C>A c.3192G>T (p.Trp1064Cys) c.2835G>T (p.Trp945Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242550C= | CA1304945616 | SCN1A-AS1,SCN9A | c.3579G= (p.Trp1193=) c.3546G= (p.Trp1182=) n.612-5645C= c.3192G= (p.Trp1064=) c.2835G= (p.Trp945=) | |
2 | g.166242550C>G | CA349070203 | SCN1A-AS1,SCN9A | c.3579G>C (p.Trp1193Cys) c.3546G>C (p.Trp1182Cys) n.612-5645C>G c.3192G>C (p.Trp1064Cys) c.2835G>C (p.Trp945Cys) | |
2 | g.166242550C>T | CA349070207 | SCN1A-AS1,SCN9A | c.3579G>A (p.Trp1193Ter) c.3546G>A (p.Trp1182Ter) n.612-5645C>T c.3192G>A (p.Trp1064Ter) c.2835G>A (p.Trp945Ter) | dbSNP |
2 | g.166242551C>A | CA349070210 | SCN1A-AS1,SCN9A | c.3578G>T (p.Trp1193Leu) c.3545G>T (p.Trp1182Leu) n.612-5644C>A c.3191G>T (p.Trp1064Leu) c.2834G>T (p.Trp945Leu) | ClinVar gnomAD v4 |
2 | g.166242551C>G | CA349070211 | SCN1A-AS1,SCN9A | c.3578G>C (p.Trp1193Ser) c.3545G>C (p.Trp1182Ser) n.612-5644C>G c.3191G>C (p.Trp1064Ser) c.2834G>C (p.Trp945Ser) | |
2 | g.166242551C>T | CA349070214 | SCN1A-AS1,SCN9A | c.3578G>A (p.Trp1193Ter) c.3545G>A (p.Trp1182Ter) n.612-5644C>T c.3191G>A (p.Trp1064Ter) c.2834G>A (p.Trp945Ter) | |
2 | g.166242552A>C | CA349070217 | SCN1A-AS1,SCN9A | c.3577T>G (p.Trp1193Gly) c.3544T>G (p.Trp1182Gly) n.612-5643A>C c.3190T>G (p.Trp1064Gly) c.2833T>G (p.Trp945Gly) | |
2 | g.166242552A>G | CA349070222 | SCN1A-AS1,SCN9A | c.3577T>C (p.Trp1193Arg) c.3544T>C (p.Trp1182Arg) n.612-5643A>G c.3190T>C (p.Trp1064Arg) c.2833T>C (p.Trp945Arg) | |
2 | g.166242552A>T | CA349070223 | SCN1A-AS1,SCN9A | c.3577T>A (p.Trp1193Arg) c.3544T>A (p.Trp1182Arg) n.612-5643A>T c.3190T>A (p.Trp1064Arg) c.2833T>A (p.Trp945Arg) | gnomAD v4 |
2 | g.166242553A= | CA1304945618 | SCN1A-AS1,SCN9A | c.3576T= (p.Ser1192=) c.3543T= (p.Ser1181=) n.612-5642A= c.3189T= (p.Ser1063=) c.2832T= (p.Ser944=) | |
2 | g.166242553A>C | CA349070225 | SCN1A-AS1,SCN9A | c.3576T>G (p.Ser1192Arg) c.3543T>G (p.Ser1181Arg) n.612-5642A>C c.3189T>G (p.Ser1063Arg) c.2832T>G (p.Ser944Arg) | |
2 | g.166242553A>G | CA1944027 | SCN1A-AS1,SCN9A | c.3576T>C (p.Ser1192=) c.3543T>C (p.Ser1181=) n.612-5642A>G c.3189T>C (p.Ser1063=) c.2832T>C (p.Ser944=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242553A>T | CA349070227 | SCN1A-AS1,SCN9A | c.3576T>A (p.Ser1192Arg) c.3543T>A (p.Ser1181Arg) n.612-5642A>T c.3189T>A (p.Ser1063Arg) c.2832T>A (p.Ser944Arg) | gnomAD v4 |
2 | g.166242554C>A | CA349070231 | SCN1A-AS1,SCN9A | c.3575G>T (p.Ser1192Ile) c.3542G>T (p.Ser1181Ile) n.612-5641C>A c.3188G>T (p.Ser1063Ile) c.2831G>T (p.Ser944Ile) | gnomAD v4 |
2 | g.166242554C>G | CA349070233 | SCN1A-AS1,SCN9A | c.3575G>C (p.Ser1192Thr) c.3542G>C (p.Ser1181Thr) n.612-5641C>G c.3188G>C (p.Ser1063Thr) c.2831G>C (p.Ser944Thr) | COSMIC COSMIC |
2 | g.166242554C>T | CA349070230 | SCN1A-AS1,SCN9A | c.3575G>A (p.Ser1192Asn) c.3542G>A (p.Ser1181Asn) n.612-5641C>T c.3188G>A (p.Ser1063Asn) c.2831G>A (p.Ser944Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.166242555T>A | CA349070237 | SCN1A-AS1,SCN9A | c.3574A>T (p.Ser1192Cys) c.3541A>T (p.Ser1181Cys) n.612-5640T>A c.3187A>T (p.Ser1063Cys) c.2830A>T (p.Ser944Cys) | |
2 | g.166242555T>C | CA349070239 | SCN1A-AS1,SCN9A | c.3574A>G (p.Ser1192Gly) c.3541A>G (p.Ser1181Gly) n.612-5640T>C c.3187A>G (p.Ser1063Gly) c.2830A>G (p.Ser944Gly) | gnomAD v4 |
2 | g.166242555T>G | CA349070242 | SCN1A-AS1,SCN9A | c.3574A>C (p.Ser1192Arg) c.3541A>C (p.Ser1181Arg) n.612-5640T>G c.3187A>C (p.Ser1063Arg) c.2830A>C (p.Ser944Arg) | |
2 | g.166242556G>A | CA1944028 | SCN1A-AS1,SCN9A | c.3573C>T (p.His1191=) c.3540C>T (p.His1180=) n.612-5639G>A c.3186C>T (p.His1062=) c.2829C>T (p.His943=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242556G>C | CA349070246 | SCN1A-AS1,SCN9A | c.3573C>G (p.His1191Gln) c.3540C>G (p.His1180Gln) n.612-5639G>C c.3186C>G (p.His1062Gln) c.2829C>G (p.His943Gln) | gnomAD v4 |
2 | g.166242556G= | CA1304945621 | SCN1A-AS1,SCN9A | c.3573C= (p.His1191=) c.3540C= (p.His1180=) n.612-5639G= c.3186C= (p.His1062=) c.2829C= (p.His943=) | |
2 | g.166242556G>T | CA349070248 | SCN1A-AS1,SCN9A | c.3573C>A (p.His1191Gln) c.3540C>A (p.His1180Gln) n.612-5639G>T c.3186C>A (p.His1062Gln) c.2829C>A (p.His943Gln) | |
2 | g.166242557T>A | CA349070251 | SCN1A-AS1,SCN9A | c.3572A>T (p.His1191Leu) c.3539A>T (p.His1180Leu) n.612-5638T>A c.3185A>T (p.His1062Leu) c.2828A>T (p.His943Leu) | |
2 | g.166242557T>C | CA349070253 | SCN1A-AS1,SCN9A | c.3572A>G (p.His1191Arg) c.3539A>G (p.His1180Arg) n.612-5638T>C c.3185A>G (p.His1062Arg) c.2828A>G (p.His943Arg) | gnomAD v4 |
2 | g.166242557T>G | CA349070252 | SCN1A-AS1,SCN9A | c.3572A>C (p.His1191Pro) c.3539A>C (p.His1180Pro) n.612-5638T>G c.3185A>C (p.His1062Pro) c.2828A>C (p.His943Pro) | |
2 | g.166242558G>A | CA349070254 | SCN1A-AS1,SCN9A | c.3571C>T (p.His1191Tyr) c.3538C>T (p.His1180Tyr) n.612-5637G>A c.3184C>T (p.His1062Tyr) c.2827C>T (p.His943Tyr) | gnomAD v4 |
2 | g.166242558G>C | CA349070255 | SCN1A-AS1,SCN9A | c.3571C>G (p.His1191Asp) c.3538C>G (p.His1180Asp) n.612-5637G>C c.3184C>G (p.His1062Asp) c.2827C>G (p.His943Asp) | |
2 | g.166242558G>T | CA349070256 | SCN1A-AS1,SCN9A | c.3571C>A (p.His1191Asn) c.3538C>A (p.His1180Asn) n.612-5637G>T c.3184C>A (p.His1062Asn) c.2827C>A (p.His943Asn) | |
2 | g.166242559T>A | CA349070257 | SCN1A-AS1,SCN9A | c.3570A>T (p.Glu1190Asp) c.3537A>T (p.Glu1179Asp) n.612-5636T>A c.3183A>T (p.Glu1061Asp) c.2826A>T (p.Glu942Asp) | |
2 | g.166242559T>C | CA429901306 | SCN1A-AS1,SCN9A | c.3570A>G (p.Glu1190=) c.3537A>G (p.Glu1179=) n.612-5636T>C c.3183A>G (p.Glu1061=) c.2826A>G (p.Glu942=) | gnomAD v4 |
2 | g.166242559T>G | CA349070258 | SCN1A-AS1,SCN9A | c.3570A>C (p.Glu1190Asp) c.3537A>C (p.Glu1179Asp) n.612-5636T>G c.3183A>C (p.Glu1061Asp) c.2826A>C (p.Glu942Asp) | |
2 | g.166242560T>A | CA349070267 | SCN1A-AS1,SCN9A | c.3569A>T (p.Glu1190Val) c.3536A>T (p.Glu1179Val) n.612-5635T>A c.3182A>T (p.Glu1061Val) c.2825A>T (p.Glu942Val) | gnomAD v4 |
2 | g.166242560T>C | CA349070270 | SCN1A-AS1,SCN9A | c.3569A>G (p.Glu1190Gly) c.3536A>G (p.Glu1179Gly) n.612-5635T>C c.3182A>G (p.Glu1061Gly) c.2825A>G (p.Glu942Gly) | |
2 | g.166242560T>G | CA349070262 | SCN1A-AS1,SCN9A | c.3569A>C (p.Glu1190Ala) c.3536A>C (p.Glu1179Ala) n.612-5635T>G c.3182A>C (p.Glu1061Ala) c.2825A>C (p.Glu942Ala) | gnomAD v4 |
2 | g.166242561C>A | CA349070272 | SCN1A-AS1,SCN9A | c.3568G>T (p.Glu1190Ter) c.3535G>T (p.Glu1179Ter) n.612-5634C>A c.3181G>T (p.Glu1061Ter) c.2824G>T (p.Glu942Ter) | dbSNP gnomAD v4 |
2 | g.166242561C= | CA1304945622 | SCN1A-AS1,SCN9A | c.3568G= (p.Glu1190=) c.3535G= (p.Glu1179=) n.612-5634C= c.3181G= (p.Glu1061=) c.2824G= (p.Glu942=) | |
2 | g.166242561C>G | CA349070276 | SCN1A-AS1,SCN9A | c.3568G>C (p.Glu1190Gln) c.3535G>C (p.Glu1179Gln) n.612-5634C>G c.3181G>C (p.Glu1061Gln) c.2824G>C (p.Glu942Gln) | |
2 | g.166242561C>T | CA349070274 | SCN1A-AS1,SCN9A | c.3568G>A (p.Glu1190Lys) c.3535G>A (p.Glu1179Lys) n.612-5634C>T c.3181G>A (p.Glu1061Lys) c.2824G>A (p.Glu942Lys) | |
2 | g.166242562A>C | CA429901312 | SCN1A-AS1,SCN9A | c.3567T>G (p.Val1189=) c.3534T>G (p.Val1178=) n.612-5633A>C c.3180T>G (p.Val1060=) c.2823T>G (p.Val941=) | |
2 | g.166242562A>G | CA429901313 | SCN1A-AS1,SCN9A | c.3567T>C (p.Val1189=) c.3534T>C (p.Val1178=) n.612-5633A>G c.3180T>C (p.Val1060=) c.2823T>C (p.Val941=) | |
2 | g.166242562A>T | CA429901315 | SCN1A-AS1,SCN9A | c.3567T>A (p.Val1189=) c.3534T>A (p.Val1178=) n.612-5633A>T c.3180T>A (p.Val1060=) c.2823T>A (p.Val941=) | |
2 | g.166242563A= | CA1304945623 | SCN1A-AS1,SCN9A | c.3566T= (p.Val1189=) c.3533T= (p.Val1178=) n.612-5632A= c.3179T= (p.Val1060=) c.2822T= (p.Val941=) |