| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166238137_166238147delinsTATGTTTTATA | CA1304949959 | SCN1A-AS1,SCN9A | c.3748_3758delinsTATAAAACATA (p.Tyr1250=) c.3715_3725delinsTATAAAACATA (p.Tyr1239=) n.612-10058_612-10048delinsTATGTTTTATA c.3361_3371delinsTATAAAACATA (p.Tyr1121=) c.3004_3014delinsTATAAAACATA (p.Tyr1002=) | |
| 2 | g.166238139_166238148del | CA1304949960 | SCN1A-AS1,SCN9A | c.3748_3757del (p.Tyr1250IlefsTer12) c.3715_3724del (p.Tyr1239IlefsTer12) n.612-10056_612-10047del c.3361_3370del (p.Tyr1121IlefsTer12) c.3004_3013del (p.Tyr1002IlefsTer12) | dbSNP |
| 2 | g.166238141T>A | CA349068546 | SCN1A-AS1,SCN9A | c.3754A>T (p.Thr1252Ser) c.3721A>T (p.Thr1241Ser) n.612-10054T>A c.3367A>T (p.Thr1123Ser) c.3010A>T (p.Thr1004Ser) | |
| 2 | g.166238141T>C | CA10612526 | SCN1A-AS1,SCN9A | c.3754A>G (p.Thr1252Ala) c.3721A>G (p.Thr1241Ala) n.612-10054T>C c.3367A>G (p.Thr1123Ala) c.3010A>G (p.Thr1004Ala) | ClinVar dbSNP |
| 2 | g.166238141T>G | CA349068547 | SCN1A-AS1,SCN9A | c.3754A>C (p.Thr1252Pro) c.3721A>C (p.Thr1241Pro) n.612-10054T>G c.3367A>C (p.Thr1123Pro) c.3010A>C (p.Thr1004Pro) | |
| 2 | g.166238141T= | CA1304949962 | SCN1A-AS1,SCN9A | c.3754A= (p.Thr1252=) c.3721A= (p.Thr1241=) n.612-10054T= c.3367A= (p.Thr1123=) c.3010A= (p.Thr1004=) | |
| 2 | g.166238142T>A | CA349068549 | SCN1A-AS1,SCN9A | c.3753A>T (p.Lys1251Asn) c.3720A>T (p.Lys1240Asn) n.612-10053T>A c.3366A>T (p.Lys1122Asn) c.3009A>T (p.Lys1003Asn) | |
| 2 | g.166238142T>C | CA429900714 | SCN1A-AS1,SCN9A | c.3753A>G (p.Lys1251=) c.3720A>G (p.Lys1240=) n.612-10053T>C c.3366A>G (p.Lys1122=) c.3009A>G (p.Lys1003=) | gnomAD v4 |
| 2 | g.166238142T>G | CA349068550 | SCN1A-AS1,SCN9A | c.3753A>C (p.Lys1251Asn) c.3720A>C (p.Lys1240Asn) n.612-10053T>G c.3366A>C (p.Lys1122Asn) c.3009A>C (p.Lys1003Asn) | |
| 2 | g.166238143T>A | CA349068553 | SCN1A-AS1,SCN9A | c.3752A>T (p.Lys1251Ile) c.3719A>T (p.Lys1240Ile) n.612-10052T>A c.3365A>T (p.Lys1122Ile) c.3008A>T (p.Lys1003Ile) | |
| 2 | g.166238143T>C | CA349068552 | SCN1A-AS1,SCN9A | c.3752A>G (p.Lys1251Arg) c.3719A>G (p.Lys1240Arg) n.612-10052T>C c.3365A>G (p.Lys1122Arg) c.3008A>G (p.Lys1003Arg) | ClinVar dbSNP |
| 2 | g.166238143T>G | CA349068551 | SCN1A-AS1,SCN9A | c.3752A>C (p.Lys1251Thr) c.3719A>C (p.Lys1240Thr) n.612-10052T>G c.3365A>C (p.Lys1122Thr) c.3008A>C (p.Lys1003Thr) | |
| 2 | g.166238143T= | CA1304949963 | SCN1A-AS1,SCN9A | c.3752A= (p.Lys1251=) c.3719A= (p.Lys1240=) n.612-10052T= c.3365A= (p.Lys1122=) c.3008A= (p.Lys1003=) | |
| 2 | g.166238144T>A | CA349068554 | SCN1A-AS1,SCN9A | c.3751A>T (p.Lys1251Ter) c.3718A>T (p.Lys1240Ter) n.612-10051T>A c.3364A>T (p.Lys1122Ter) c.3007A>T (p.Lys1003Ter) | dbSNP |
| 2 | g.166238144T>C | CA349068555 | SCN1A-AS1,SCN9A | c.3751A>G (p.Lys1251Glu) c.3718A>G (p.Lys1240Glu) n.612-10051T>C c.3364A>G (p.Lys1122Glu) c.3007A>G (p.Lys1003Glu) | |
| 2 | g.166238144T>G | CA349068557 | SCN1A-AS1,SCN9A | c.3751A>C (p.Lys1251Gln) c.3718A>C (p.Lys1240Gln) n.612-10051T>G c.3364A>C (p.Lys1122Gln) c.3007A>C (p.Lys1003Gln) | |
| 2 | g.166238144T= | CA1304949964 | SCN1A-AS1,SCN9A | c.3751A= (p.Lys1251=) c.3718A= (p.Lys1240=) n.612-10051T= c.3364A= (p.Lys1122=) c.3007A= (p.Lys1003=) | |
| 2 | g.166238145A= | CA1304949965 | SCN1A-AS1,SCN9A | c.3750T= (p.Tyr1250=) c.3717T= (p.Tyr1239=) n.612-10050A= c.3363T= (p.Tyr1121=) c.3006T= (p.Tyr1002=) | |
| 2 | g.166238145A>C | CA349068559 | SCN1A-AS1,SCN9A | c.3750T>G (p.Tyr1250Ter) c.3717T>G (p.Tyr1239Ter) n.612-10050A>C c.3363T>G (p.Tyr1121Ter) c.3006T>G (p.Tyr1002Ter) | |
| 2 | g.166238145A>G | CA429900715 | SCN1A-AS1,SCN9A | c.3750T>C (p.Tyr1250=) c.3717T>C (p.Tyr1239=) n.612-10050A>G c.3363T>C (p.Tyr1121=) c.3006T>C (p.Tyr1002=) | dbSNP |
| 2 | g.166238145A>T | CA349068561 | SCN1A-AS1,SCN9A | c.3750T>A (p.Tyr1250Ter) c.3717T>A (p.Tyr1239Ter) n.612-10050A>T c.3363T>A (p.Tyr1121Ter) c.3006T>A (p.Tyr1002Ter) | |
| 2 | g.166238146T>A | CA349068566 | SCN1A-AS1,SCN9A | c.3749A>T (p.Tyr1250Phe) c.3716A>T (p.Tyr1239Phe) n.612-10049T>A c.3362A>T (p.Tyr1121Phe) c.3005A>T (p.Tyr1002Phe) | |
| 2 | g.166238146T>C | CA349068564 | SCN1A-AS1,SCN9A | c.3749A>G (p.Tyr1250Cys) c.3716A>G (p.Tyr1239Cys) n.612-10049T>C c.3362A>G (p.Tyr1121Cys) c.3005A>G (p.Tyr1002Cys) | dbSNP |
| 2 | g.166238146T>G | CA349068562 | SCN1A-AS1,SCN9A | c.3749A>C (p.Tyr1250Ser) c.3716A>C (p.Tyr1239Ser) n.612-10049T>G c.3362A>C (p.Tyr1121Ser) c.3005A>C (p.Tyr1002Ser) | |
| 2 | g.166238146T= | CA1304949966 | SCN1A-AS1,SCN9A | c.3749A= (p.Tyr1250=) c.3716A= (p.Tyr1239=) n.612-10049T= c.3362A= (p.Tyr1121=) c.3005A= (p.Tyr1002=) | |
| 2 | g.166238147A>C | CA349068568 | SCN1A-AS1,SCN9A | c.3748T>G (p.Tyr1250Asp) c.3715T>G (p.Tyr1239Asp) n.612-10048A>C c.3361T>G (p.Tyr1121Asp) c.3004T>G (p.Tyr1002Asp) | |
| 2 | g.166238147A>G | CA349068569 | SCN1A-AS1,SCN9A | c.3748T>C (p.Tyr1250His) c.3715T>C (p.Tyr1239His) n.612-10048A>G c.3361T>C (p.Tyr1121His) c.3004T>C (p.Tyr1002His) | |
| 2 | g.166238147A>T | CA349068570 | SCN1A-AS1,SCN9A | c.3748T>A (p.Tyr1250Asn) c.3715T>A (p.Tyr1239Asn) n.612-10048A>T c.3361T>A (p.Tyr1121Asn) c.3004T>A (p.Tyr1002Asn) | |
| 2 | g.166238148A>C | CA429900716 | SCN1A-AS1,SCN9A | c.3747T>G (p.Gly1249=) c.3714T>G (p.Gly1238=) n.612-10047A>C c.3360T>G (p.Gly1120=) c.3003T>G (p.Gly1001=) | |
| 2 | g.166238148A>G | CA429900717 | SCN1A-AS1,SCN9A | c.3747T>C (p.Gly1249=) c.3714T>C (p.Gly1238=) n.612-10047A>G c.3360T>C (p.Gly1120=) c.3003T>C (p.Gly1001=) | |
| 2 | g.166238148A>T | CA429900718 | SCN1A-AS1,SCN9A | c.3747T>A (p.Gly1249=) c.3714T>A (p.Gly1238=) n.612-10047A>T c.3360T>A (p.Gly1120=) c.3003T>A (p.Gly1001=) | |
| 2 | g.166238149C>A | CA349068573 | SCN1A-AS1,SCN9A | c.3746G>T (p.Gly1249Val) c.3713G>T (p.Gly1238Val) n.612-10046C>A c.3359G>T (p.Gly1120Val) c.3002G>T (p.Gly1001Val) | |
| 2 | g.166238149C>G | CA349068574 | SCN1A-AS1,SCN9A | c.3746G>C (p.Gly1249Ala) c.3713G>C (p.Gly1238Ala) n.612-10046C>G c.3359G>C (p.Gly1120Ala) c.3002G>C (p.Gly1001Ala) | |
| 2 | g.166238149C>T | CA349068576 | SCN1A-AS1,SCN9A | c.3746G>A (p.Gly1249Asp) c.3713G>A (p.Gly1238Asp) n.612-10046C>T c.3359G>A (p.Gly1120Asp) c.3002G>A (p.Gly1001Asp) | |
| 2 | g.166238153_166238163del | CA2586970374 | SCN1A-AS1,SCN9A | c.3736_3746del (p.Ile1246LeufsTer2) c.3703_3713del (p.Ile1235LeufsTer2) n.612-10042_612-10032del c.3349_3359del (p.Ile1117LeufsTer2) c.2992_3002del (p.Ile998LeufsTer2) | gnomAD v4 |
| 2 | g.166238150C>A | CA349068577 | SCN1A-AS1,SCN9A | c.3745G>T (p.Gly1249Cys) c.3712G>T (p.Gly1238Cys) n.612-10045C>A c.3358G>T (p.Gly1120Cys) c.3001G>T (p.Gly1001Cys) | gnomAD v4 |
| 2 | g.166238150C>G | CA349068580 | SCN1A-AS1,SCN9A | c.3745G>C (p.Gly1249Arg) c.3712G>C (p.Gly1238Arg) n.612-10045C>G c.3358G>C (p.Gly1120Arg) c.3001G>C (p.Gly1001Arg) | |
| 2 | g.166238150C>T | CA349068578 | SCN1A-AS1,SCN9A | c.3745G>A (p.Gly1249Ser) c.3712G>A (p.Gly1238Ser) n.612-10045C>T c.3358G>A (p.Gly1120Ser) c.3001G>A (p.Gly1001Ser) | |
| 2 | g.166238151A>C | CA349068582 | SCN1A-AS1,SCN9A | c.3744T>G (p.Tyr1248Ter) c.3711T>G (p.Tyr1237Ter) n.612-10044A>C c.3357T>G (p.Tyr1119Ter) c.3000T>G (p.Tyr1000Ter) | |
| 2 | g.166238151A>G | CA429900719 | SCN1A-AS1,SCN9A | c.3744T>C (p.Tyr1248=) c.3711T>C (p.Tyr1237=) n.612-10044A>G c.3357T>C (p.Tyr1119=) c.3000T>C (p.Tyr1000=) | ClinVar COSMIC |
| 2 | g.166238151A>T | CA349068584 | SCN1A-AS1,SCN9A | c.3744T>A (p.Tyr1248Ter) c.3711T>A (p.Tyr1237Ter) n.612-10044A>T c.3357T>A (p.Tyr1119Ter) c.3000T>A (p.Tyr1000Ter) | |
| 2 | g.166238152T>A | CA349068585 | SCN1A-AS1,SCN9A | c.3743A>T (p.Tyr1248Phe) c.3710A>T (p.Tyr1237Phe) n.612-10043T>A c.3356A>T (p.Tyr1119Phe) c.2999A>T (p.Tyr1000Phe) | |
| 2 | g.166238152T>C | CA349068588 | SCN1A-AS1,SCN9A | c.3743A>G (p.Tyr1248Cys) c.3710A>G (p.Tyr1237Cys) n.612-10043T>C c.3356A>G (p.Tyr1119Cys) c.2999A>G (p.Tyr1000Cys) | gnomAD v4 |
| 2 | g.166238152T>G | CA349068589 | SCN1A-AS1,SCN9A | c.3743A>C (p.Tyr1248Ser) c.3710A>C (p.Tyr1237Ser) n.612-10043T>G c.3356A>C (p.Tyr1119Ser) c.2999A>C (p.Tyr1000Ser) | |
| 2 | g.166238153A= | CA1304949967 | SCN1A-AS1,SCN9A | c.3742T= (p.Tyr1248=) c.3709T= (p.Tyr1237=) n.612-10042A= c.3355T= (p.Tyr1119=) c.2998T= (p.Tyr1000=) | |
| 2 | g.166238153A>C | CA349068591 | SCN1A-AS1,SCN9A | c.3742T>G (p.Tyr1248Asp) c.3709T>G (p.Tyr1237Asp) n.612-10042A>C c.3355T>G (p.Tyr1119Asp) c.2998T>G (p.Tyr1000Asp) | |
| 2 | g.166238153A>G | CA349068593 | SCN1A-AS1,SCN9A | c.3742T>C (p.Tyr1248His) c.3709T>C (p.Tyr1237His) n.612-10042A>G c.3355T>C (p.Tyr1119His) c.2998T>C (p.Tyr1000His) | dbSNP |
| 2 | g.166238153A>T | CA349068595 | SCN1A-AS1,SCN9A | c.3742T>A (p.Tyr1248Asn) c.3709T>A (p.Tyr1237Asn) n.612-10042A>T c.3355T>A (p.Tyr1119Asn) c.2998T>A (p.Tyr1000Asn) | |
| 2 | g.166238154T>A | CA429900720 | SCN1A-AS1,SCN9A | c.3741A>T (p.Ala1247=) c.3708A>T (p.Ala1236=) n.612-10041T>A c.3354A>T (p.Ala1118=) c.2997A>T (p.Ala999=) | ClinVar dbSNP |
| 2 | g.166238154T>C | CA429900721 | SCN1A-AS1,SCN9A | c.3741A>G (p.Ala1247=) c.3708A>G (p.Ala1236=) n.612-10041T>C c.3354A>G (p.Ala1118=) c.2997A>G (p.Ala999=) |