| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 2 | g.166242563A>C | CA1944029 | SCN1A-AS1,SCN9A | c.3566T>G (p.Val1189Gly) c.3533T>G (p.Val1178Gly) n.612-5632A>C c.3179T>G (p.Val1060Gly) c.2822T>G (p.Val941Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166242563A>G | CA349070277 | SCN1A-AS1,SCN9A | c.3566T>C (p.Val1189Ala) c.3533T>C (p.Val1178Ala) n.612-5632A>G c.3179T>C (p.Val1060Ala) c.2822T>C (p.Val941Ala) | gnomAD v4 |
| 2 | g.166242563A>T | CA349070278 | SCN1A-AS1,SCN9A | c.3566T>A (p.Val1189Asp) c.3533T>A (p.Val1178Asp) n.612-5632A>T c.3179T>A (p.Val1060Asp) c.2822T>A (p.Val941Asp) | |
| 2 | g.166242564C>A | CA349070279 | SCN1A-AS1,SCN9A | c.3565G>T (p.Val1189Phe) c.3532G>T (p.Val1178Phe) n.612-5631C>A c.3178G>T (p.Val1060Phe) c.2821G>T (p.Val941Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.166242564C= | CA1304945626 | SCN1A-AS1,SCN9A | c.3565G= (p.Val1189=) c.3532G= (p.Val1178=) n.612-5631C= c.3178G= (p.Val1060=) c.2821G= (p.Val941=) | |
| 2 | g.166242564C>G | CA349070280 | SCN1A-AS1,SCN9A | c.3565G>C (p.Val1189Leu) c.3532G>C (p.Val1178Leu) n.612-5631C>G c.3178G>C (p.Val1060Leu) c.2821G>C (p.Val941Leu) | |
| 2 | g.166242564C>T | CA349070282 | SCN1A-AS1,SCN9A | c.3565G>A (p.Val1189Ile) c.3532G>A (p.Val1178Ile) n.612-5631C>T c.3178G>A (p.Val1060Ile) c.2821G>A (p.Val941Ile) | gnomAD v4 |
| 2 | g.166242565A>C | CA349070284 | SCN1A-AS1,SCN9A | c.3564T>G (p.Ile1188Met) c.3531T>G (p.Ile1177Met) n.612-5630A>C c.3177T>G (p.Ile1059Met) c.2820T>G (p.Ile940Met) | |
| 2 | g.166242565A>G | CA429901318 | SCN1A-AS1,SCN9A | c.3564T>C (p.Ile1188=) c.3531T>C (p.Ile1177=) n.612-5630A>G c.3177T>C (p.Ile1059=) c.2820T>C (p.Ile940=) | gnomAD v4 |
| 2 | g.166242565A>T | CA429901320 | SCN1A-AS1,SCN9A | c.3564T>A (p.Ile1188=) c.3531T>A (p.Ile1177=) n.612-5630A>T c.3177T>A (p.Ile1059=) c.2820T>A (p.Ile940=) | |
| 2 | g.166242566A= | CA1304945627 | SCN1A-AS1,SCN9A | c.3563T= (p.Ile1188=) c.3530T= (p.Ile1177=) n.612-5629A= c.3176T= (p.Ile1059=) c.2819T= (p.Ile940=) | |
| 2 | g.166242566A>C | CA349070287 | SCN1A-AS1,SCN9A | c.3563T>G (p.Ile1188Ser) c.3530T>G (p.Ile1177Ser) n.612-5629A>C c.3176T>G (p.Ile1059Ser) c.2819T>G (p.Ile940Ser) | |
| 2 | g.166242566A>G | CA349070289 | SCN1A-AS1,SCN9A | c.3563T>C (p.Ile1188Thr) c.3530T>C (p.Ile1177Thr) n.612-5629A>G c.3176T>C (p.Ile1059Thr) c.2819T>C (p.Ile940Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166242566A>T | CA349070292 | SCN1A-AS1,SCN9A | c.3563T>A (p.Ile1188Asn) c.3530T>A (p.Ile1177Asn) n.612-5629A>T c.3176T>A (p.Ile1059Asn) c.2819T>A (p.Ile940Asn) | |
| 2 | g.166242567T>A | CA349070294 | SCN1A-AS1,SCN9A | c.3562A>T (p.Ile1188Phe) c.3529A>T (p.Ile1177Phe) n.612-5628T>A c.3175A>T (p.Ile1059Phe) c.2818A>T (p.Ile940Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166242567T>C | CA349070295 | SCN1A-AS1,SCN9A | c.3562A>G (p.Ile1188Val) c.3529A>G (p.Ile1177Val) n.612-5628T>C c.3175A>G (p.Ile1059Val) c.2818A>G (p.Ile940Val) | |
| 2 | g.166242567T>G | CA349070296 | SCN1A-AS1,SCN9A | c.3562A>C (p.Ile1188Leu) c.3529A>C (p.Ile1177Leu) n.612-5628T>G c.3175A>C (p.Ile1059Leu) c.2818A>C (p.Ile940Leu) | |
| 2 | g.166242567T= | CA1304945628 | SCN1A-AS1,SCN9A | c.3562A= (p.Ile1188=) c.3529A= (p.Ile1177=) n.612-5628T= c.3175A= (p.Ile1059=) c.2818A= (p.Ile940=) | |
| 2 | g.166242568C>A | CA349070298 | SCN1A-AS1,SCN9A | c.3561G>T (p.Lys1187Asn) c.3528G>T (p.Lys1176Asn) n.612-5627C>A c.3174G>T (p.Lys1058Asn) c.2817G>T (p.Lys939Asn) | gnomAD v4 |
| 2 | g.166242568C= | CA1304945630 | SCN1A-AS1,SCN9A | c.3561G= (p.Lys1187=) c.3528G= (p.Lys1176=) n.612-5627C= c.3174G= (p.Lys1058=) c.2817G= (p.Lys939=) | |
| 2 | g.166242568C>G | CA1944030 | SCN1A-AS1,SCN9A | c.3561G>C (p.Lys1187Asn) c.3528G>C (p.Lys1176Asn) n.612-5627C>G c.3174G>C (p.Lys1058Asn) c.2817G>C (p.Lys939Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166242568C>T | CA429901325 | SCN1A-AS1,SCN9A | c.3561G>A (p.Lys1187=) c.3528G>A (p.Lys1176=) n.612-5627C>T c.3174G>A (p.Lys1058=) c.2817G>A (p.Lys939=) | |
| 2 | g.166242569T>A | CA349070303 | SCN1A-AS1,SCN9A | c.3560A>T (p.Lys1187Met) c.3527A>T (p.Lys1176Met) n.612-5626T>A c.3173A>T (p.Lys1058Met) c.2816A>T (p.Lys939Met) | |
| 2 | g.166242569T>C | CA349070305 | SCN1A-AS1,SCN9A | c.3560A>G (p.Lys1187Arg) c.3527A>G (p.Lys1176Arg) n.612-5626T>C c.3173A>G (p.Lys1058Arg) c.2816A>G (p.Lys939Arg) | |
| 2 | g.166242569T>G | CA349070306 | SCN1A-AS1,SCN9A | c.3560A>C (p.Lys1187Thr) c.3527A>C (p.Lys1176Thr) n.612-5626T>G c.3173A>C (p.Lys1058Thr) c.2816A>C (p.Lys939Thr) | |
| 2 | g.166242570T>A | CA349070311 | SCN1A-AS1,SCN9A | c.3559A>T (p.Lys1187Ter) c.3526A>T (p.Lys1176Ter) n.612-5625T>A c.3172A>T (p.Lys1058Ter) c.2815A>T (p.Lys939Ter) | dbSNP |