| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166228776_166228792del | CA2661765422 | SCN1A-AS1,SCN9A | c.4112_4128del (p.Phe1371Ter) c.3956_3972del (p.Phe1319Ter) c.4079_4095del (p.Phe1360Ter) n.612-19419_612-19403del c.3725_3741del (p.Phe1242Ter) c.3368_3384del (p.Phe1123Ter) | gnomAD v4 |
| 2 | g.166228787A= | CA1304943638 | SCN1A-AS1,SCN9A | c.4110T= (p.Cys1370=) c.3954T= (p.Cys1318=) c.4077T= (p.Cys1359=) n.612-19408A= c.3723T= (p.Cys1241=) c.3366T= (p.Cys1122=) | |
| 2 | g.166228787A>C | CA349063550 | SCN1A-AS1,SCN9A | c.4110T>G (p.Cys1370Trp) c.3954T>G (p.Cys1318Trp) c.4077T>G (p.Cys1359Trp) n.612-19408A>C c.3723T>G (p.Cys1241Trp) c.3366T>G (p.Cys1122Trp) | |
| 2 | g.166228787A>G | CA1943949 | SCN1A-AS1,SCN9A | c.4110T>C (p.Cys1370=) c.3954T>C (p.Cys1318=) c.4077T>C (p.Cys1359=) n.612-19408A>G c.3723T>C (p.Cys1241=) c.3366T>C (p.Cys1122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166228787A>T | CA349063553 | SCN1A-AS1,SCN9A | c.4110T>A (p.Cys1370Ter) c.3954T>A (p.Cys1318Ter) c.4077T>A (p.Cys1359Ter) n.612-19408A>T c.3723T>A (p.Cys1241Ter) c.3366T>A (p.Cys1122Ter) | dbSNP |
| 2 | g.166228788C>A | CA349063555 | SCN1A-AS1,SCN9A | c.4109G>T (p.Cys1370Phe) c.3953G>T (p.Cys1318Phe) c.4076G>T (p.Cys1359Phe) n.612-19407C>A c.3722G>T (p.Cys1241Phe) c.3365G>T (p.Cys1122Phe) | |
| 2 | g.166228788C= | CA1304943639 | SCN1A-AS1,SCN9A | c.4109G= (p.Cys1370=) c.3953G= (p.Cys1318=) c.4076G= (p.Cys1359=) n.612-19407C= c.3722G= (p.Cys1241=) c.3365G= (p.Cys1122=) | |
| 2 | g.166228788C>G | CA349063558 | SCN1A-AS1,SCN9A | c.4109G>C (p.Cys1370Ser) c.3953G>C (p.Cys1318Ser) c.4076G>C (p.Cys1359Ser) n.612-19407C>G c.3722G>C (p.Cys1241Ser) c.3365G>C (p.Cys1122Ser) | |
| 2 | g.166228788C>T | CA349063560 | SCN1A-AS1,SCN9A | c.4109G>A (p.Cys1370Tyr) c.3953G>A (p.Cys1318Tyr) c.4076G>A (p.Cys1359Tyr) n.612-19407C>T c.3722G>A (p.Cys1241Tyr) c.3365G>A (p.Cys1122Tyr) | dbSNP gnomAD v2 |
| 2 | g.166228789A>C | CA349063563 | SCN1A-AS1,SCN9A | c.4108T>G (p.Cys1370Gly) c.3952T>G (p.Cys1318Gly) c.4075T>G (p.Cys1359Gly) n.612-19406A>C c.3721T>G (p.Cys1241Gly) c.3364T>G (p.Cys1122Gly) | |
| 2 | g.166228789A>G | CA349063567 | SCN1A-AS1,SCN9A | c.4108T>C (p.Cys1370Arg) c.3952T>C (p.Cys1318Arg) c.4075T>C (p.Cys1359Arg) n.612-19406A>G c.3721T>C (p.Cys1241Arg) c.3364T>C (p.Cys1122Arg) | |
| 2 | g.166228789A>T | CA349063565 | SCN1A-AS1,SCN9A | c.4108T>A (p.Cys1370Ser) c.3952T>A (p.Cys1318Ser) c.4075T>A (p.Cys1359Ser) n.612-19406A>T c.3721T>A (p.Cys1241Ser) c.3364T>A (p.Cys1122Ser) | |
| 2 | g.166228790T>A | CA349063568 | SCN1A-AS1,SCN9A | c.4107A>T (p.Glu1369Asp) c.3951A>T (p.Glu1317Asp) c.4074A>T (p.Glu1358Asp) n.612-19405T>A c.3720A>T (p.Glu1240Asp) c.3363A>T (p.Glu1121Asp) | |
| 2 | g.166228790T>C | CA1943950 | SCN1A-AS1,SCN9A | c.4107A>G (p.Glu1369=) c.3951A>G (p.Glu1317=) c.4074A>G (p.Glu1358=) n.612-19405T>C c.3720A>G (p.Glu1240=) c.3363A>G (p.Glu1121=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166228790T>G | CA349063570 | SCN1A-AS1,SCN9A | c.4107A>C (p.Glu1369Asp) c.3951A>C (p.Glu1317Asp) c.4074A>C (p.Glu1358Asp) n.612-19405T>G c.3720A>C (p.Glu1240Asp) c.3363A>C (p.Glu1121Asp) | |
| 2 | g.166228790T= | CA1304943640 | SCN1A-AS1,SCN9A | c.4107A= (p.Glu1369=) c.3951A= (p.Glu1317=) c.4074A= (p.Glu1358=) n.612-19405T= c.3720A= (p.Glu1240=) c.3363A= (p.Glu1121=) | |
| 2 | g.166228791del | CA2661765423 | SCN1A-AS1,SCN9A | c.4107del (p.Glu1369AspfsTer6) c.3951del (p.Glu1317AspfsTer6) c.4074del (p.Glu1358AspfsTer6) n.612-19404del c.3720del (p.Glu1240AspfsTer6) c.3363del (p.Glu1121AspfsTer6) | gnomAD v4 |
| 2 | g.166228791T>A | CA349063573 | SCN1A-AS1,SCN9A | c.4106A>T (p.Glu1369Val) c.3950A>T (p.Glu1317Val) c.4073A>T (p.Glu1358Val) n.612-19404T>A c.3719A>T (p.Glu1240Val) c.3362A>T (p.Glu1121Val) | |
| 2 | g.166228791T>C | CA349063575 | SCN1A-AS1,SCN9A | c.4106A>G (p.Glu1369Gly) c.3950A>G (p.Glu1317Gly) c.4073A>G (p.Glu1358Gly) n.612-19404T>C c.3719A>G (p.Glu1240Gly) c.3362A>G (p.Glu1121Gly) | |
| 2 | g.166228791T>G | CA349063578 | SCN1A-AS1,SCN9A | c.4106A>C (p.Glu1369Ala) c.3950A>C (p.Glu1317Ala) c.4073A>C (p.Glu1358Ala) n.612-19404T>G c.3719A>C (p.Glu1240Ala) c.3362A>C (p.Glu1121Ala) | gnomAD v4 |
| 2 | g.166228792C>A | CA349063581 | SCN1A-AS1,SCN9A | c.4105G>T (p.Glu1369Ter) c.3949G>T (p.Glu1317Ter) c.4072G>T (p.Glu1358Ter) n.612-19403C>A c.3718G>T (p.Glu1240Ter) c.3361G>T (p.Glu1121Ter) | dbSNP gnomAD v4 |
| 2 | g.166228792C= | CA1304943641 | SCN1A-AS1,SCN9A | c.4105G= (p.Glu1369=) c.3949G= (p.Glu1317=) c.4072G= (p.Glu1358=) n.612-19403C= c.3718G= (p.Glu1240=) c.3361G= (p.Glu1121=) | |
| 2 | g.166228792C>G | CA349063582 | SCN1A-AS1,SCN9A | c.4105G>C (p.Glu1369Gln) c.3949G>C (p.Glu1317Gln) c.4072G>C (p.Glu1358Gln) n.612-19403C>G c.3718G>C (p.Glu1240Gln) c.3361G>C (p.Glu1121Gln) | |
| 2 | g.166228792C>T | CA349063585 | SCN1A-AS1,SCN9A | c.4105G>A (p.Glu1369Lys) c.3949G>A (p.Glu1317Lys) c.4072G>A (p.Glu1358Lys) n.612-19403C>T c.3718G>A (p.Glu1240Lys) c.3361G>A (p.Glu1121Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.166228793G>A | CA429899179 | SCN1A-AS1,SCN9A | c.4104C>T (p.Ser1368=) c.3948C>T (p.Ser1316=) c.4071C>T (p.Ser1357=) n.612-19402G>A c.3717C>T (p.Ser1239=) c.3360C>T (p.Ser1120=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.166228793G>C | CA429899180 | SCN1A-AS1,SCN9A | c.4104C>G (p.Ser1368=) c.3948C>G (p.Ser1316=) c.4071C>G (p.Ser1357=) n.612-19402G>C c.3717C>G (p.Ser1239=) c.3360C>G (p.Ser1120=) | dbSNP |
| 2 | g.166228793G= | CA1304943642 | SCN1A-AS1,SCN9A | c.4104C= (p.Ser1368=) c.3948C= (p.Ser1316=) c.4071C= (p.Ser1357=) n.612-19402G= c.3717C= (p.Ser1239=) c.3360C= (p.Ser1120=) | |
| 2 | g.166228793G>T | CA429899181 | SCN1A-AS1,SCN9A | c.4104C>A (p.Ser1368=) c.3948C>A (p.Ser1316=) c.4071C>A (p.Ser1357=) n.612-19402G>T c.3717C>A (p.Ser1239=) c.3360C>A (p.Ser1120=) | |
| 2 | g.166228794G>A | CA349063587 | SCN1A-AS1,SCN9A | c.4103C>T (p.Ser1368Phe) c.3947C>T (p.Ser1316Phe) c.4070C>T (p.Ser1357Phe) n.612-19401G>A c.3716C>T (p.Ser1239Phe) c.3359C>T (p.Ser1120Phe) | COSMIC COSMIC |
| 2 | g.166228794G>C | CA349063588 | SCN1A-AS1,SCN9A | c.4103C>G (p.Ser1368Cys) c.3947C>G (p.Ser1316Cys) c.4070C>G (p.Ser1357Cys) n.612-19401G>C c.3716C>G (p.Ser1239Cys) c.3359C>G (p.Ser1120Cys) | |
| 2 | g.166228794G>T | CA349063590 | SCN1A-AS1,SCN9A | c.4103C>A (p.Ser1368Tyr) c.3947C>A (p.Ser1316Tyr) c.4070C>A (p.Ser1357Tyr) n.612-19401G>T c.3716C>A (p.Ser1239Tyr) c.3359C>A (p.Ser1120Tyr) | gnomAD v4 |
| 2 | g.166228795A= | CA1304943643 | SCN1A-AS1,SCN9A | c.4102T= (p.Ser1368=) c.3946T= (p.Ser1316=) c.4069T= (p.Ser1357=) n.612-19400A= c.3715T= (p.Ser1239=) c.3358T= (p.Ser1120=) | |
| 2 | g.166228795A>C | CA349063598 | SCN1A-AS1,SCN9A | c.4102T>G (p.Ser1368Ala) c.3946T>G (p.Ser1316Ala) c.4069T>G (p.Ser1357Ala) n.612-19400A>C c.3715T>G (p.Ser1239Ala) c.3358T>G (p.Ser1120Ala) | |
| 2 | g.166228795A>G | CA349063593 | SCN1A-AS1,SCN9A | c.4102T>C (p.Ser1368Pro) c.3946T>C (p.Ser1316Pro) c.4069T>C (p.Ser1357Pro) n.612-19400A>G c.3715T>C (p.Ser1239Pro) c.3358T>C (p.Ser1120Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.166228795A>T | CA349063596 | SCN1A-AS1,SCN9A | c.4102T>A (p.Ser1368Thr) c.3946T>A (p.Ser1316Thr) c.4069T>A (p.Ser1357Thr) n.612-19400A>T c.3715T>A (p.Ser1239Thr) c.3358T>A (p.Ser1120Thr) | |
| 2 | g.166228796A= | CA1304943644 | SCN1A-AS1,SCN9A | c.4101T= (p.Arg1367=) c.3945T= (p.Arg1315=) c.4068T= (p.Arg1356=) n.612-19399A= c.3714T= (p.Arg1238=) c.3357T= (p.Arg1119=) | |
| 2 | g.166228796A>C | CA429899186 | SCN1A-AS1,SCN9A | c.4101T>G (p.Arg1367=) c.3945T>G (p.Arg1315=) c.4068T>G (p.Arg1356=) n.612-19399A>C c.3714T>G (p.Arg1238=) c.3357T>G (p.Arg1119=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166228796A>G | CA429899187 | SCN1A-AS1,SCN9A | c.4101T>C (p.Arg1367=) c.3945T>C (p.Arg1315=) c.4068T>C (p.Arg1356=) n.612-19399A>G c.3714T>C (p.Arg1238=) c.3357T>C (p.Arg1119=) | |
| 2 | g.166228796A>T | CA429899188 | SCN1A-AS1,SCN9A | c.4101T>A (p.Arg1367=) c.3945T>A (p.Arg1315=) c.4068T>A (p.Arg1356=) n.612-19399A>T c.3714T>A (p.Arg1238=) c.3357T>A (p.Arg1119=) | |
| 2 | g.166228797C>A | CA349063601 | SCN1A-AS1,SCN9A | c.4100G>T (p.Arg1367Leu) c.3944G>T (p.Arg1315Leu) c.4067G>T (p.Arg1356Leu) n.612-19398C>A c.3713G>T (p.Arg1238Leu) c.3356G>T (p.Arg1119Leu) | gnomAD v4 |
| 2 | g.166228797C= | CA1304943645 | SCN1A-AS1,SCN9A | c.4100G= (p.Arg1367=) c.3944G= (p.Arg1315=) c.4067G= (p.Arg1356=) n.612-19398C= c.3713G= (p.Arg1238=) c.3356G= (p.Arg1119=) | |
| 2 | g.166228797C>G | CA349063604 | SCN1A-AS1,SCN9A | c.4100G>C (p.Arg1367Pro) c.3944G>C (p.Arg1315Pro) c.4067G>C (p.Arg1356Pro) n.612-19398C>G c.3713G>C (p.Arg1238Pro) c.3356G>C (p.Arg1119Pro) | |
| 2 | g.166228797C>T | CA1943951 | SCN1A-AS1,SCN9A | c.4100G>A (p.Arg1367His) c.3944G>A (p.Arg1315His) c.4067G>A (p.Arg1356His) n.612-19398C>T c.3713G>A (p.Arg1238His) c.3356G>A (p.Arg1119His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.166228798G>A | CA59810279 | SCN1A-AS1,SCN9A | c.4099C>T (p.Arg1367Cys) c.3943C>T (p.Arg1315Cys) c.4066C>T (p.Arg1356Cys) n.612-19397G>A c.3712C>T (p.Arg1238Cys) c.3355C>T (p.Arg1119Cys) | ClinVar dbSNP COSMIC COSMIC |
| 2 | g.166228798G>C | CA349063607 | SCN1A-AS1,SCN9A | c.4099C>G (p.Arg1367Gly) c.3943C>G (p.Arg1315Gly) c.4066C>G (p.Arg1356Gly) n.612-19397G>C c.3712C>G (p.Arg1238Gly) c.3355C>G (p.Arg1119Gly) | |
| 2 | g.166228798G= | CA1304943646 | SCN1A-AS1,SCN9A | c.4099C= (p.Arg1367=) c.3943C= (p.Arg1315=) c.4066C= (p.Arg1356=) n.612-19397G= c.3712C= (p.Arg1238=) c.3355C= (p.Arg1119=) | |
| 2 | g.166228798G>T | CA349063609 | SCN1A-AS1,SCN9A | c.4099C>A (p.Arg1367Ser) c.3943C>A (p.Arg1315Ser) c.4066C>A (p.Arg1356Ser) n.612-19397G>T c.3712C>A (p.Arg1238Ser) c.3355C>A (p.Arg1119Ser) | |
| 2 | g.166228799A>C | CA349063611 | SCN1A-AS1,SCN9A | c.4098T>G (p.Asn1366Lys) c.3942T>G (p.Asn1314Lys) c.4065T>G (p.Asn1355Lys) n.612-19396A>C c.3711T>G (p.Asn1237Lys) c.3354T>G (p.Asn1118Lys) | |
| 2 | g.166228799A>G | CA429899191 | SCN1A-AS1,SCN9A | c.4098T>C (p.Asn1366=) c.3942T>C (p.Asn1314=) c.4065T>C (p.Asn1355=) n.612-19396A>G c.3711T>C (p.Asn1237=) c.3354T>C (p.Asn1118=) | |
| 2 | g.166228799A>T | CA349063613 | SCN1A-AS1,SCN9A | c.4098T>A (p.Asn1366Lys) c.3942T>A (p.Asn1314Lys) c.4065T>A (p.Asn1355Lys) n.612-19396A>T c.3711T>A (p.Asn1237Lys) c.3354T>A (p.Asn1118Lys) |