| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166233375G>A | CA349066408 | SCN1A-AS1,SCN9A | c.3889C>T (p.Pro1297Ser) c.3769-4403C>T (n.3769-4403C>T) c.3856C>T (p.Pro1286Ser) n.612-14820G>A c.3502C>T (p.Pro1168Ser) c.3145C>T (p.Pro1049Ser) | COSMIC COSMIC |
| 2 | g.166233375G>C | CA349066409 | SCN1A-AS1,SCN9A | c.3889C>G (p.Pro1297Ala) c.3769-4403C>G (n.3769-4403C>G) c.3856C>G (p.Pro1286Ala) n.612-14820G>C c.3502C>G (p.Pro1168Ala) c.3145C>G (p.Pro1049Ala) | |
| 2 | g.166233375G>T | CA349066410 | SCN1A-AS1,SCN9A | c.3889C>A (p.Pro1297Thr) c.3769-4403C>A (n.3769-4403C>A) c.3856C>A (p.Pro1286Thr) n.612-14820G>T c.3502C>A (p.Pro1168Thr) c.3145C>A (p.Pro1049Thr) | gnomAD v4 |
| 2 | g.166233376T>A | CA349066411 | SCN1A-AS1,SCN9A | c.3888A>T (p.Arg1296Ser) c.3769-4404A>T (n.3769-4404A>T) c.3855A>T (p.Arg1285Ser) n.612-14819T>A c.3501A>T (p.Arg1167Ser) c.3144A>T (p.Arg1048Ser) | |
| 2 | g.166233376T>C | CA429900473 | SCN1A-AS1,SCN9A | c.3888A>G (p.Arg1296=) c.3769-4404A>G (n.3769-4404A>G) c.3855A>G (p.Arg1285=) n.612-14819T>C c.3501A>G (p.Arg1167=) c.3144A>G (p.Arg1048=) | |
| 2 | g.166233376T>G | CA349066412 | SCN1A-AS1,SCN9A | c.3888A>C (p.Arg1296Ser) c.3769-4404A>C (n.3769-4404A>C) c.3855A>C (p.Arg1285Ser) n.612-14819T>G c.3501A>C (p.Arg1167Ser) c.3144A>C (p.Arg1048Ser) | |
| 2 | g.166233377C>A | CA349066413 | SCN1A-AS1,SCN9A | c.3887G>T (p.Arg1296Ile) c.3769-4405G>T (n.3769-4405G>T) c.3854G>T (p.Arg1285Ile) n.612-14818C>A c.3500G>T (p.Arg1167Ile) c.3143G>T (p.Arg1048Ile) | |
| 2 | g.166233377C>G | CA349066414 | SCN1A-AS1,SCN9A | c.3887G>C (p.Arg1296Thr) c.3769-4405G>C (n.3769-4405G>C) c.3854G>C (p.Arg1285Thr) n.612-14818C>G c.3500G>C (p.Arg1167Thr) c.3143G>C (p.Arg1048Thr) | |
| 2 | g.166233377C>T | CA349066415 | SCN1A-AS1,SCN9A | c.3887G>A (p.Arg1296Lys) c.3769-4405G>A (n.3769-4405G>A) c.3854G>A (p.Arg1285Lys) n.612-14818C>T c.3500G>A (p.Arg1167Lys) c.3143G>A (p.Arg1048Lys) | |
| 2 | g.166233378T>A | CA349066417 | SCN1A-AS1,SCN9A | c.3886A>T (p.Arg1296Ter) c.3769-4406A>T (n.3769-4406A>T) c.3853A>T (p.Arg1285Ter) n.612-14817T>A c.3499A>T (p.Arg1167Ter) c.3142A>T (p.Arg1048Ter) | dbSNP |
| 2 | g.166233378T>C | CA349066416 | SCN1A-AS1,SCN9A | c.3886A>G (p.Arg1296Gly) c.3769-4406A>G (n.3769-4406A>G) c.3853A>G (p.Arg1285Gly) n.612-14817T>C c.3499A>G (p.Arg1167Gly) c.3142A>G (p.Arg1048Gly) | |
| 2 | g.166233378T>G | CA429900474 | SCN1A-AS1,SCN9A | c.3886A>C (p.Arg1296=) c.3769-4406A>C (n.3769-4406A>C) c.3853A>C (p.Arg1285=) n.612-14817T>G c.3499A>C (p.Arg1167=) c.3142A>C (p.Arg1048=) | |
| 2 | g.166233378T= | CA1304946734 | SCN1A-AS1,SCN9A | c.3886A= (p.Arg1296=) c.3769-4406A= (n.3769-4406A=) c.3853A= (p.Arg1285=) n.612-14817T= c.3499A= (p.Arg1167=) c.3142A= (p.Arg1048=) | |
| 2 | g.166233379T>A | CA349066418 | SCN1A-AS1,SCN9A | c.3885A>T (p.Leu1295Phe) c.3769-4407A>T (n.3769-4407A>T) c.3852A>T (p.Leu1284Phe) n.612-14816T>A c.3498A>T (p.Leu1166Phe) c.3141A>T (p.Leu1047Phe) | |
| 2 | g.166233379T>C | CA429900475 | SCN1A-AS1,SCN9A | c.3885A>G (p.Leu1295=) c.3769-4407A>G (n.3769-4407A>G) c.3852A>G (p.Leu1284=) n.612-14816T>C c.3498A>G (p.Leu1166=) c.3141A>G (p.Leu1047=) | |
| 2 | g.166233379T>G | CA349066419 | SCN1A-AS1,SCN9A | c.3885A>C (p.Leu1295Phe) c.3769-4407A>C (n.3769-4407A>C) c.3852A>C (p.Leu1284Phe) n.612-14816T>G c.3498A>C (p.Leu1166Phe) c.3141A>C (p.Leu1047Phe) | |
| 2 | g.166233379T= | CA1304946738 | SCN1A-AS1,SCN9A | c.3885A= (p.Leu1295=) c.3769-4407A= (n.3769-4407A=) c.3852A= (p.Leu1284=) n.612-14816T= c.3498A= (p.Leu1166=) c.3141A= (p.Leu1047=) | |
| 2 | g.166233380A= | CA1304946744 | SCN1A-AS1,SCN9A | c.3884T= (p.Leu1295=) c.3769-4408T= (n.3769-4408T=) c.3851T= (p.Leu1284=) n.612-14815A= c.3497T= (p.Leu1166=) c.3140T= (p.Leu1047=) | |
| 2 | g.166233380A>C | CA349066420 | SCN1A-AS1,SCN9A | c.3884T>G (p.Leu1295Ter) c.3769-4408T>G (n.3769-4408T>G) c.3851T>G (p.Leu1284Ter) n.612-14815A>C c.3497T>G (p.Leu1166Ter) c.3140T>G (p.Leu1047Ter) | |
| 2 | g.166233380A>G | CA349066421 | SCN1A-AS1,SCN9A | c.3884T>C (p.Leu1295Ser) c.3769-4408T>C (n.3769-4408T>C) c.3851T>C (p.Leu1284Ser) n.612-14815A>G c.3497T>C (p.Leu1166Ser) c.3140T>C (p.Leu1047Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166233380A>T | CA349066422 | SCN1A-AS1,SCN9A | c.3884T>A (p.Leu1295Ter) c.3769-4408T>A (n.3769-4408T>A) c.3851T>A (p.Leu1284Ter) n.612-14815A>T c.3497T>A (p.Leu1166Ter) c.3140T>A (p.Leu1047Ter) | |
| 2 | g.166233380_166233381insGAA | CA537511603 | SCN1A-AS1,SCN9A | c.3884_3885insTCT (p.Ala1294_Leu1295insPhe) c.3769-4408_3769-4407insTCT (n.3769-4408_3769-4407insTCT) c.3851_3852insTCT (p.Ala1283_Leu1284insPhe) n.612-14815_612-14814insGAA c.3497_3498insTCT (p.Ala1165_Leu1166insPhe) c.3140_3141insTCT (p.Ala1046_Leu1047insPhe) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.166233382del | CA2661765697 | SCN1A-AS1,SCN9A | c.3884del (p.Leu1295Ter) c.3769-4408del (n.3769-4408del) c.3851del (p.Leu1284Ter) n.612-14813del c.3497del (p.Leu1166Ter) c.3140del (p.Leu1047Ter) | ClinVar gnomAD v4 |
| 2 | g.166233381A>C | CA349066423 | SCN1A-AS1,SCN9A | c.3883T>G (p.Leu1295Val) c.3769-4409T>G (n.3769-4409T>G) c.3850T>G (p.Leu1284Val) n.612-14814A>C c.3496T>G (p.Leu1166Val) c.3139T>G (p.Leu1047Val) | ClinVar dbSNP |
| 2 | g.166233381A>G | CA429900476 | SCN1A-AS1,SCN9A | c.3883T>C (p.Leu1295=) c.3769-4409T>C (n.3769-4409T>C) c.3850T>C (p.Leu1284=) n.612-14814A>G c.3496T>C (p.Leu1166=) c.3139T>C (p.Leu1047=) | |
| 2 | g.166233381A>T | CA349066424 | SCN1A-AS1,SCN9A | c.3883T>A (p.Leu1295Ile) c.3769-4409T>A (n.3769-4409T>A) c.3850T>A (p.Leu1284Ile) n.612-14814A>T c.3496T>A (p.Leu1166Ile) c.3139T>A (p.Leu1047Ile) | |
| 2 | g.166233382A>C | CA429900477 | SCN1A-AS1,SCN9A | c.3882T>G (p.Ala1294=) c.3769-4410T>G (n.3769-4410T>G) c.3849T>G (p.Ala1283=) n.612-14813A>C c.3495T>G (p.Ala1165=) c.3138T>G (p.Ala1046=) | gnomAD v4 |
| 2 | g.166233382A>G | CA429900478 | SCN1A-AS1,SCN9A | c.3882T>C (p.Ala1294=) c.3769-4410T>C (n.3769-4410T>C) c.3849T>C (p.Ala1283=) n.612-14813A>G c.3495T>C (p.Ala1165=) c.3138T>C (p.Ala1046=) | |
| 2 | g.166233382A>T | CA429900479 | SCN1A-AS1,SCN9A | c.3882T>A (p.Ala1294=) c.3769-4410T>A (n.3769-4410T>A) c.3849T>A (p.Ala1283=) n.612-14813A>T c.3495T>A (p.Ala1165=) c.3138T>A (p.Ala1046=) | |
| 2 | g.166233383G>A | CA349066425 | SCN1A-AS1,SCN9A | c.3881C>T (p.Ala1294Val) c.3769-4411C>T (n.3769-4411C>T) c.3848C>T (p.Ala1283Val) n.612-14812G>A c.3494C>T (p.Ala1165Val) c.3137C>T (p.Ala1046Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.166233383G>C | CA349066426 | SCN1A-AS1,SCN9A | c.3881C>G (p.Ala1294Gly) c.3769-4411C>G (n.3769-4411C>G) c.3848C>G (p.Ala1283Gly) n.612-14812G>C c.3494C>G (p.Ala1165Gly) c.3137C>G (p.Ala1046Gly) | |
| 2 | g.166233383G>T | CA349066427 | SCN1A-AS1,SCN9A | c.3881C>A (p.Ala1294Asp) c.3769-4411C>A (n.3769-4411C>A) c.3848C>A (p.Ala1283Asp) n.612-14812G>T c.3494C>A (p.Ala1165Asp) c.3137C>A (p.Ala1046Asp) | |
| 2 | g.166233384C>A | CA349066428 | SCN1A-AS1,SCN9A | c.3880G>T (p.Ala1294Ser) c.3769-4412G>T (n.3769-4412G>T) c.3847G>T (p.Ala1283Ser) n.612-14811C>A c.3493G>T (p.Ala1165Ser) c.3136G>T (p.Ala1046Ser) | gnomAD v4 |
| 2 | g.166233384C>G | CA349066429 | SCN1A-AS1,SCN9A | c.3880G>C (p.Ala1294Pro) c.3769-4412G>C (n.3769-4412G>C) c.3847G>C (p.Ala1283Pro) n.612-14811C>G c.3493G>C (p.Ala1165Pro) c.3136G>C (p.Ala1046Pro) | |
| 2 | g.166233384C>T | CA349066430 | SCN1A-AS1,SCN9A | c.3880G>A (p.Ala1294Thr) c.3769-4412G>A (n.3769-4412G>A) c.3847G>A (p.Ala1283Thr) n.612-14811C>T c.3493G>A (p.Ala1165Thr) c.3136G>A (p.Ala1046Thr) | |
| 2 | g.166233385T>A | CA349066432 | SCN1A-AS1,SCN9A | c.3879A>T (p.Arg1293Ser) c.3769-4413A>T (n.3769-4413A>T) c.3846A>T (p.Arg1282Ser) n.612-14810T>A c.3492A>T (p.Arg1164Ser) c.3135A>T (p.Arg1045Ser) | |
| 2 | g.166233385T>C | CA429900480 | SCN1A-AS1,SCN9A | c.3879A>G (p.Arg1293=) c.3769-4413A>G (n.3769-4413A>G) c.3846A>G (p.Arg1282=) n.612-14810T>C c.3492A>G (p.Arg1164=) c.3135A>G (p.Arg1045=) | gnomAD v4 |
| 2 | g.166233385T>G | CA349066431 | SCN1A-AS1,SCN9A | c.3879A>C (p.Arg1293Ser) c.3769-4413A>C (n.3769-4413A>C) c.3846A>C (p.Arg1282Ser) n.612-14810T>G c.3492A>C (p.Arg1164Ser) c.3135A>C (p.Arg1045Ser) | |
| 2 | g.166233386C>A | CA349066435 | SCN1A-AS1,SCN9A | c.3878G>T (p.Arg1293Ile) c.3769-4414G>T (n.3769-4414G>T) c.3845G>T (p.Arg1282Ile) n.612-14809C>A c.3491G>T (p.Arg1164Ile) c.3134G>T (p.Arg1045Ile) | |
| 2 | g.166233386C>G | CA349066439 | SCN1A-AS1,SCN9A | c.3878G>C (p.Arg1293Thr) c.3769-4414G>C (n.3769-4414G>C) c.3845G>C (p.Arg1282Thr) n.612-14809C>G c.3491G>C (p.Arg1164Thr) c.3134G>C (p.Arg1045Thr) | ClinVar dbSNP |
| 2 | g.166233386C>T | CA349066437 | SCN1A-AS1,SCN9A | c.3878G>A (p.Arg1293Lys) c.3769-4414G>A (n.3769-4414G>A) c.3845G>A (p.Arg1282Lys) n.612-14809C>T c.3491G>A (p.Arg1164Lys) c.3134G>A (p.Arg1045Lys) | |
| 2 | g.166233387T>A | CA349066440 | SCN1A-AS1,SCN9A | c.3877A>T (p.Arg1293Ter) c.3769-4415A>T (n.3769-4415A>T) c.3844A>T (p.Arg1282Ter) n.612-14808T>A c.3490A>T (p.Arg1164Ter) c.3133A>T (p.Arg1045Ter) | dbSNP |
| 2 | g.166233387T>C | CA349066442 | SCN1A-AS1,SCN9A | c.3877A>G (p.Arg1293Gly) c.3769-4415A>G (n.3769-4415A>G) c.3844A>G (p.Arg1282Gly) n.612-14808T>C c.3490A>G (p.Arg1164Gly) c.3133A>G (p.Arg1045Gly) | COSMIC |
| 2 | g.166233387T>G | CA429900481 | SCN1A-AS1,SCN9A | c.3877A>C (p.Arg1293=) c.3769-4415A>C (n.3769-4415A>C) c.3844A>C (p.Arg1282=) n.612-14808T>G c.3490A>C (p.Arg1164=) c.3133A>C (p.Arg1045=) | |
| 2 | g.166233387T= | CA1304946753 | SCN1A-AS1,SCN9A | c.3877A= (p.Arg1293=) c.3769-4415A= (n.3769-4415A=) c.3844A= (p.Arg1282=) n.612-14808T= c.3490A= (p.Arg1164=) c.3133A= (p.Arg1045=) | |
| 2 | g.166233388C>A | CA429900483 | SCN1A-AS1,SCN9A | c.3876G>T (p.Leu1292=) c.3769-4416G>T (n.3769-4416G>T) c.3843G>T (p.Leu1281=) n.612-14807C>A c.3489G>T (p.Leu1163=) c.3132G>T (p.Leu1044=) | |
| 2 | g.166233388C>G | CA429900484 | SCN1A-AS1,SCN9A | c.3876G>C (p.Leu1292=) c.3769-4416G>C (n.3769-4416G>C) c.3843G>C (p.Leu1281=) n.612-14807C>G c.3489G>C (p.Leu1163=) c.3132G>C (p.Leu1044=) | |
| 2 | g.166233388C>T | CA429900482 | SCN1A-AS1,SCN9A | c.3876G>A (p.Leu1292=) c.3769-4416G>A (n.3769-4416G>A) c.3843G>A (p.Leu1281=) n.612-14807C>T c.3489G>A (p.Leu1163=) c.3132G>A (p.Leu1044=) | gnomAD v4 |
| 2 | g.166233389A= | CA1304946760 | SCN1A-AS1,SCN9A | c.3875T= (p.Leu1292=) c.3769-4417T= (n.3769-4417T=) c.3842T= (p.Leu1281=) n.612-14806A= c.3488T= (p.Leu1163=) c.3131T= (p.Leu1044=) | |
| 2 | g.166233389A>C | CA349066444 | SCN1A-AS1,SCN9A | c.3875T>G (p.Leu1292Arg) c.3769-4417T>G (n.3769-4417T>G) c.3842T>G (p.Leu1281Arg) n.612-14806A>C c.3488T>G (p.Leu1163Arg) c.3131T>G (p.Leu1044Arg) | ClinVar dbSNP |