Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
2 | g.166233389A>G | CA349066446 | SCN1A-AS1,SCN9A | c.3875T>C (p.Leu1292Pro) c.3769-4417T>C (n.3769-4417T>C) c.3842T>C (p.Leu1281Pro) n.612-14806A>G c.3488T>C (p.Leu1163Pro) c.3131T>C (p.Leu1044Pro) | gnomAD v4 |
2 | g.166233389A>T | CA349066448 | SCN1A-AS1,SCN9A | c.3875T>A (p.Leu1292Gln) c.3769-4417T>A (n.3769-4417T>A) c.3842T>A (p.Leu1281Gln) n.612-14806A>T c.3488T>A (p.Leu1163Gln) c.3131T>A (p.Leu1044Gln) | |
2 | g.166233390G>A | CA429900485 | SCN1A-AS1,SCN9A | c.3874C>T (p.Leu1292=) c.3769-4418C>T (n.3769-4418C>T) c.3841C>T (p.Leu1281=) n.612-14805G>A c.3487C>T (p.Leu1163=) c.3130C>T (p.Leu1044=) | |
2 | g.166233390G>C | CA349066450 | SCN1A-AS1,SCN9A | c.3874C>G (p.Leu1292Val) c.3769-4418C>G (n.3769-4418C>G) c.3841C>G (p.Leu1281Val) n.612-14805G>C c.3487C>G (p.Leu1163Val) c.3130C>G (p.Leu1044Val) | |
2 | g.166233390G>T | CA349066452 | SCN1A-AS1,SCN9A | c.3874C>A (p.Leu1292Met) c.3769-4418C>A (n.3769-4418C>A) c.3841C>A (p.Leu1281Met) n.612-14805G>T c.3487C>A (p.Leu1163Met) c.3130C>A (p.Leu1044Met) | |
2 | g.166233391T>A | CA429900486 | SCN1A-AS1,SCN9A | c.3873A>T (p.Thr1291=) c.3769-4419A>T (n.3769-4419A>T) c.3840A>T (p.Thr1280=) n.612-14804T>A c.3486A>T (p.Thr1162=) c.3129A>T (p.Thr1043=) | |
2 | g.166233391T>C | CA429900487 | SCN1A-AS1,SCN9A | c.3873A>G (p.Thr1291=) c.3769-4419A>G (n.3769-4419A>G) c.3840A>G (p.Thr1280=) n.612-14804T>C c.3486A>G (p.Thr1162=) c.3129A>G (p.Thr1043=) | |
2 | g.166233391T>G | CA429900488 | SCN1A-AS1,SCN9A | c.3873A>C (p.Thr1291=) c.3769-4419A>C (n.3769-4419A>C) c.3840A>C (p.Thr1280=) n.612-14804T>G c.3486A>C (p.Thr1162=) c.3129A>C (p.Thr1043=) | |
2 | g.166233392G>A | CA349066454 | SCN1A-AS1,SCN9A | c.3872C>T (p.Thr1291Ile) c.3769-4420C>T (n.3769-4420C>T) c.3839C>T (p.Thr1280Ile) n.612-14803G>A c.3485C>T (p.Thr1162Ile) c.3128C>T (p.Thr1043Ile) | gnomAD v4 |
2 | g.166233392G>C | CA349066455 | SCN1A-AS1,SCN9A | c.3872C>G (p.Thr1291Arg) c.3769-4420C>G (n.3769-4420C>G) c.3839C>G (p.Thr1280Arg) n.612-14803G>C c.3485C>G (p.Thr1162Arg) c.3128C>G (p.Thr1043Arg) | |
2 | g.166233392G>T | CA349066457 | SCN1A-AS1,SCN9A | c.3872C>A (p.Thr1291Lys) c.3769-4420C>A (n.3769-4420C>A) c.3839C>A (p.Thr1280Lys) n.612-14803G>T c.3485C>A (p.Thr1162Lys) c.3128C>A (p.Thr1043Lys) | gnomAD v4 |
2 | g.166233393T>A | CA349066459 | SCN1A-AS1,SCN9A | c.3871A>T (p.Thr1291Ser) c.3769-4421A>T (n.3769-4421A>T) c.3838A>T (p.Thr1280Ser) n.612-14802T>A c.3484A>T (p.Thr1162Ser) c.3127A>T (p.Thr1043Ser) | |
2 | g.166233393T>C | CA349066461 | SCN1A-AS1,SCN9A | c.3871A>G (p.Thr1291Ala) c.3769-4421A>G (n.3769-4421A>G) c.3838A>G (p.Thr1280Ala) n.612-14802T>C c.3484A>G (p.Thr1162Ala) c.3127A>G (p.Thr1043Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166233393T>G | CA349066463 | SCN1A-AS1,SCN9A | c.3871A>C (p.Thr1291Pro) c.3769-4421A>C (n.3769-4421A>C) c.3838A>C (p.Thr1280Pro) n.612-14802T>G c.3484A>C (p.Thr1162Pro) c.3127A>C (p.Thr1043Pro) | |
2 | g.166233393T= | CA1304946763 | SCN1A-AS1,SCN9A | c.3871A= (p.Thr1291=) c.3769-4421A= (n.3769-4421A=) c.3838A= (p.Thr1280=) n.612-14802T= c.3484A= (p.Thr1162=) c.3127A= (p.Thr1043=) | |
2 | g.166233394C>A | CA429900491 | SCN1A-AS1,SCN9A | c.3870G>T (p.Arg1290=) c.3769-4422G>T (n.3769-4422G>T) c.3837G>T (p.Arg1279=) n.612-14801C>A c.3483G>T (p.Arg1161=) c.3126G>T (p.Arg1042=) | |
2 | g.166233394C>G | CA429900490 | SCN1A-AS1,SCN9A | c.3870G>C (p.Arg1290=) c.3769-4422G>C (n.3769-4422G>C) c.3837G>C (p.Arg1279=) n.612-14801C>G c.3483G>C (p.Arg1161=) c.3126G>C (p.Arg1042=) | gnomAD v4 |
2 | g.166233394C>T | CA429900489 | SCN1A-AS1,SCN9A | c.3870G>A (p.Arg1290=) c.3769-4422G>A (n.3769-4422G>A) c.3837G>A (p.Arg1279=) n.612-14801C>T c.3483G>A (p.Arg1161=) c.3126G>A (p.Arg1042=) | gnomAD v4 |
2 | g.166233395C>A | CA1943988 | SCN1A-AS1,SCN9A | c.3869G>T (p.Arg1290Leu) c.3769-4423G>T (n.3769-4423G>T) c.3836G>T (p.Arg1279Leu) n.612-14800C>A c.3482G>T (p.Arg1161Leu) c.3125G>T (p.Arg1042Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166233395C= | CA1304946769 | SCN1A-AS1,SCN9A | c.3869G= (p.Arg1290=) c.3769-4423G= (n.3769-4423G=) c.3836G= (p.Arg1279=) n.612-14800C= c.3482G= (p.Arg1161=) c.3125G= (p.Arg1042=) | |
2 | g.166233395C>G | CA349066466 | SCN1A-AS1,SCN9A | c.3869G>C (p.Arg1290Pro) c.3769-4423G>C (n.3769-4423G>C) c.3836G>C (p.Arg1279Pro) n.612-14800C>G c.3482G>C (p.Arg1161Pro) c.3125G>C (p.Arg1042Pro) | ClinVar dbSNP gnomAD v4 |
2 | g.166233395C>T | CA1943987 | SCN1A-AS1,SCN9A | c.3869G>A (p.Arg1290Gln) c.3769-4423G>A (n.3769-4423G>A) c.3836G>A (p.Arg1279Gln) n.612-14800C>T c.3482G>A (p.Arg1161Gln) c.3125G>A (p.Arg1042Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166233396G>A | CA1943989 | SCN1A-AS1,SCN9A | c.3868C>T (p.Arg1290Trp) c.3769-4424C>T (n.3769-4424C>T) c.3835C>T (p.Arg1279Trp) n.612-14799G>A c.3481C>T (p.Arg1161Trp) c.3124C>T (p.Arg1042Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.166233396G>C | CA349066472 | SCN1A-AS1,SCN9A | c.3868C>G (p.Arg1290Gly) c.3769-4424C>G (n.3769-4424C>G) c.3835C>G (p.Arg1279Gly) n.612-14799G>C c.3481C>G (p.Arg1161Gly) c.3124C>G (p.Arg1042Gly) | |
2 | g.166233396G= | CA1304946784 | SCN1A-AS1,SCN9A | c.3868C= (p.Arg1290=) c.3769-4424C= (n.3769-4424C=) c.3835C= (p.Arg1279=) n.612-14799G= c.3481C= (p.Arg1161=) c.3124C= (p.Arg1042=) | |
2 | g.166233396G>T | CA429900492 | SCN1A-AS1,SCN9A | c.3868C>A (p.Arg1290=) c.3769-4424C>A (n.3769-4424C>A) c.3835C>A (p.Arg1279=) n.612-14799G>T c.3481C>A (p.Arg1161=) c.3124C>A (p.Arg1042=) | ClinVar gnomAD v4 |
2 | g.166233397A>C | CA429900493 | SCN1A-AS1,SCN9A | c.3867T>G (p.Leu1289=) c.3769-4425T>G (n.3769-4425T>G) c.3834T>G (p.Leu1278=) n.612-14798A>C c.3480T>G (p.Leu1160=) c.3123T>G (p.Leu1041=) | |
2 | g.166233397A>G | CA429900494 | SCN1A-AS1,SCN9A | c.3867T>C (p.Leu1289=) c.3769-4425T>C (n.3769-4425T>C) c.3834T>C (p.Leu1278=) n.612-14798A>G c.3480T>C (p.Leu1160=) c.3123T>C (p.Leu1041=) | |
2 | g.166233397A>T | CA429900495 | SCN1A-AS1,SCN9A | c.3867T>A (p.Leu1289=) c.3769-4425T>A (n.3769-4425T>A) c.3834T>A (p.Leu1278=) n.612-14798A>T c.3480T>A (p.Leu1160=) c.3123T>A (p.Leu1041=) | |
2 | g.166233398A>C | CA349066475 | SCN1A-AS1,SCN9A | c.3866T>G (p.Leu1289Arg) c.3769-4426T>G (n.3769-4426T>G) c.3833T>G (p.Leu1278Arg) n.612-14797A>C c.3479T>G (p.Leu1160Arg) c.3122T>G (p.Leu1041Arg) | |
2 | g.166233398A>G | CA349066477 | SCN1A-AS1,SCN9A | c.3866T>C (p.Leu1289Pro) c.3769-4426T>C (n.3769-4426T>C) c.3833T>C (p.Leu1278Pro) n.612-14797A>G c.3479T>C (p.Leu1160Pro) c.3122T>C (p.Leu1041Pro) | gnomAD v4 |
2 | g.166233398A>T | CA349066479 | SCN1A-AS1,SCN9A | c.3866T>A (p.Leu1289His) c.3769-4426T>A (n.3769-4426T>A) c.3833T>A (p.Leu1278His) n.612-14797A>T c.3479T>A (p.Leu1160His) c.3122T>A (p.Leu1041His) | |
2 | g.166233399G>A | CA349066481 | SCN1A-AS1,SCN9A | c.3865C>T (p.Leu1289Phe) c.3769-4427C>T (n.3769-4427C>T) c.3832C>T (p.Leu1278Phe) n.612-14796G>A c.3478C>T (p.Leu1160Phe) c.3121C>T (p.Leu1041Phe) | ClinVar gnomAD v4 |
2 | g.166233399G>C | CA349066483 | SCN1A-AS1,SCN9A | c.3865C>G (p.Leu1289Val) c.3769-4427C>G (n.3769-4427C>G) c.3832C>G (p.Leu1278Val) n.612-14796G>C c.3478C>G (p.Leu1160Val) c.3121C>G (p.Leu1041Val) | |
2 | g.166233399G>T | CA349066485 | SCN1A-AS1,SCN9A | c.3865C>A (p.Leu1289Ile) c.3769-4427C>A (n.3769-4427C>A) c.3832C>A (p.Leu1278Ile) n.612-14796G>T c.3478C>A (p.Leu1160Ile) c.3121C>A (p.Leu1041Ile) | |
2 | g.166233400G>A | CA429900496 | SCN1A-AS1,SCN9A | c.3864C>T (p.Ser1288=) c.3769-4428C>T (n.3769-4428C>T) c.3831C>T (p.Ser1277=) n.612-14795G>A c.3477C>T (p.Ser1159=) c.3120C>T (p.Ser1040=) | |
2 | g.166233400G>C | CA429900497 | SCN1A-AS1,SCN9A | c.3864C>G (p.Ser1288=) c.3769-4428C>G (n.3769-4428C>G) c.3831C>G (p.Ser1277=) n.612-14795G>C c.3477C>G (p.Ser1159=) c.3120C>G (p.Ser1040=) | |
2 | g.166233400G>T | CA429900498 | SCN1A-AS1,SCN9A | c.3864C>A (p.Ser1288=) c.3769-4428C>A (n.3769-4428C>A) c.3831C>A (p.Ser1277=) n.612-14795G>T c.3477C>A (p.Ser1159=) c.3120C>A (p.Ser1040=) | gnomAD v4 |
2 | g.166233401G>A | CA349066487 | SCN1A-AS1,SCN9A | c.3863C>T (p.Ser1288Phe) c.3769-4429C>T (n.3769-4429C>T) c.3830C>T (p.Ser1277Phe) n.612-14794G>A c.3476C>T (p.Ser1159Phe) c.3119C>T (p.Ser1040Phe) | COSMIC COSMIC |
2 | g.166233401G>C | CA349066490 | SCN1A-AS1,SCN9A | c.3863C>G (p.Ser1288Cys) c.3769-4429C>G (n.3769-4429C>G) c.3830C>G (p.Ser1277Cys) n.612-14794G>C c.3476C>G (p.Ser1159Cys) c.3119C>G (p.Ser1040Cys) | |
2 | g.166233401G>T | CA349066492 | SCN1A-AS1,SCN9A | c.3863C>A (p.Ser1288Tyr) c.3769-4429C>A (n.3769-4429C>A) c.3830C>A (p.Ser1277Tyr) n.612-14794G>T c.3476C>A (p.Ser1159Tyr) c.3119C>A (p.Ser1040Tyr) | |
2 | g.166233402A>C | CA349066502 | SCN1A-AS1,SCN9A | c.3862T>G (p.Ser1288Ala) c.3769-4430T>G (n.3769-4430T>G) c.3829T>G (p.Ser1277Ala) n.612-14793A>C c.3475T>G (p.Ser1159Ala) c.3118T>G (p.Ser1040Ala) | |
2 | g.166233402A>G | CA349066500 | SCN1A-AS1,SCN9A | c.3862T>C (p.Ser1288Pro) c.3769-4430T>C (n.3769-4430T>C) c.3829T>C (p.Ser1277Pro) n.612-14793A>G c.3475T>C (p.Ser1159Pro) c.3118T>C (p.Ser1040Pro) | |
2 | g.166233402A>T | CA349066495 | SCN1A-AS1,SCN9A | c.3862T>A (p.Ser1288Thr) c.3769-4430T>A (n.3769-4430T>A) c.3829T>A (p.Ser1277Thr) n.612-14793A>T c.3475T>A (p.Ser1159Thr) c.3118T>A (p.Ser1040Thr) | |
2 | g.166233403T>A | CA349066504 | SCN1A-AS1,SCN9A | c.3861A>T (p.Lys1287Asn) c.3769-4431A>T (n.3769-4431A>T) c.3828A>T (p.Lys1276Asn) n.612-14792T>A c.3474A>T (p.Lys1158Asn) c.3117A>T (p.Lys1039Asn) | |
2 | g.166233403T>C | CA429900499 | SCN1A-AS1,SCN9A | c.3861A>G (p.Lys1287=) c.3769-4431A>G (n.3769-4431A>G) c.3828A>G (p.Lys1276=) n.612-14792T>C c.3474A>G (p.Lys1158=) c.3117A>G (p.Lys1039=) | |
2 | g.166233403T>G | CA349066506 | SCN1A-AS1,SCN9A | c.3861A>C (p.Lys1287Asn) c.3769-4431A>C (n.3769-4431A>C) c.3828A>C (p.Lys1276Asn) n.612-14792T>G c.3474A>C (p.Lys1158Asn) c.3117A>C (p.Lys1039Asn) | |
2 | g.166233404T>A | CA349066509 | SCN1A-AS1,SCN9A | c.3860A>T (p.Lys1287Ile) c.3769-4432A>T (n.3769-4432A>T) c.3827A>T (p.Lys1276Ile) n.612-14791T>A c.3473A>T (p.Lys1158Ile) c.3116A>T (p.Lys1039Ile) | |
2 | g.166233404T>C | CA349066510 | SCN1A-AS1,SCN9A | c.3860A>G (p.Lys1287Arg) c.3769-4432A>G (n.3769-4432A>G) c.3827A>G (p.Lys1276Arg) n.612-14791T>C c.3473A>G (p.Lys1158Arg) c.3116A>G (p.Lys1039Arg) | |
2 | g.166233404T>G | CA349066512 | SCN1A-AS1,SCN9A | c.3860A>C (p.Lys1287Thr) c.3769-4432A>C (n.3769-4432A>C) c.3827A>C (p.Lys1276Thr) n.612-14791T>G c.3473A>C (p.Lys1158Thr) c.3116A>C (p.Lys1039Thr) | |
2 | g.166233405T>A | CA349066514 | SCN1A-AS1,SCN9A | c.3859A>T (p.Lys1287Ter) c.3769-4433A>T (n.3769-4433A>T) c.3826A>T (p.Lys1276Ter) n.612-14790T>A c.3472A>T (p.Lys1158Ter) c.3115A>T (p.Lys1039Ter) | dbSNP |
2 | g.166233405T>C | CA349066516 | SCN1A-AS1,SCN9A | c.3859A>G (p.Lys1287Glu) c.3769-4433A>G (n.3769-4433A>G) c.3826A>G (p.Lys1276Glu) n.612-14790T>C c.3472A>G (p.Lys1158Glu) c.3115A>G (p.Lys1039Glu) | gnomAD v4 |
2 | g.166233405T>G | CA349066518 | SCN1A-AS1,SCN9A | c.3859A>C (p.Lys1287Gln) c.3769-4433A>C (n.3769-4433A>C) c.3826A>C (p.Lys1276Gln) n.612-14790T>G c.3472A>C (p.Lys1158Gln) c.3115A>C (p.Lys1039Gln) | |
2 | g.166233405T= | CA1304946790 | SCN1A-AS1,SCN9A | c.3859A= (p.Lys1287=) c.3769-4433A= (n.3769-4433A=) c.3826A= (p.Lys1276=) n.612-14790T= c.3472A= (p.Lys1158=) c.3115A= (p.Lys1039=) | |
2 | g.166233406A>C | CA349066520 | SCN1A-AS1,SCN9A | c.3858T>G (p.Ile1286Met) c.3769-4434T>G (n.3769-4434T>G) c.3825T>G (p.Ile1275Met) n.612-14789A>C c.3471T>G (p.Ile1157Met) c.3114T>G (p.Ile1038Met) | |
2 | g.166233406A>G | CA429900500 | SCN1A-AS1,SCN9A | c.3858T>C (p.Ile1286=) c.3769-4434T>C (n.3769-4434T>C) c.3825T>C (p.Ile1275=) n.612-14789A>G c.3471T>C (p.Ile1157=) c.3114T>C (p.Ile1038=) | gnomAD v4 |
2 | g.166233406A>T | CA429900501 | SCN1A-AS1,SCN9A | c.3858T>A (p.Ile1286=) c.3769-4434T>A (n.3769-4434T>A) c.3825T>A (p.Ile1275=) n.612-14789A>T c.3471T>A (p.Ile1157=) c.3114T>A (p.Ile1038=) | |
2 | g.166233407A>C | CA349066522 | SCN1A-AS1,SCN9A | c.3857T>G (p.Ile1286Ser) c.3769-4435T>G (n.3769-4435T>G) c.3824T>G (p.Ile1275Ser) n.612-14788A>C c.3470T>G (p.Ile1157Ser) c.3113T>G (p.Ile1038Ser) | |
2 | g.166233407A>G | CA349066524 | SCN1A-AS1,SCN9A | c.3857T>C (p.Ile1286Thr) c.3769-4435T>C (n.3769-4435T>C) c.3824T>C (p.Ile1275Thr) n.612-14788A>G c.3470T>C (p.Ile1157Thr) c.3113T>C (p.Ile1038Thr) | gnomAD v4 |
2 | g.166233407A>T | CA349066526 | SCN1A-AS1,SCN9A | c.3857T>A (p.Ile1286Asn) c.3769-4435T>A (n.3769-4435T>A) c.3824T>A (p.Ile1275Asn) n.612-14788A>T c.3470T>A (p.Ile1157Asn) c.3113T>A (p.Ile1038Asn) | |
2 | g.166233408T>A | CA349066530 | SCN1A-AS1,SCN9A | c.3856A>T (p.Ile1286Phe) c.3769-4436A>T (n.3769-4436A>T) c.3823A>T (p.Ile1275Phe) n.612-14787T>A c.3469A>T (p.Ile1157Phe) c.3112A>T (p.Ile1038Phe) | |
2 | g.166233408T>C | CA349066533 | SCN1A-AS1,SCN9A | c.3856A>G (p.Ile1286Val) c.3769-4436A>G (n.3769-4436A>G) c.3823A>G (p.Ile1275Val) n.612-14787T>C c.3469A>G (p.Ile1157Val) c.3112A>G (p.Ile1038Val) | ClinVar dbSNP gnomAD v4 |
2 | g.166233408T>G | CA349066529 | SCN1A-AS1,SCN9A | c.3856A>C (p.Ile1286Leu) c.3769-4436A>C (n.3769-4436A>C) c.3823A>C (p.Ile1275Leu) n.612-14787T>G c.3469A>C (p.Ile1157Leu) c.3112A>C (p.Ile1038Leu) | |
2 | g.166233408T= | CA1304946792 | SCN1A-AS1,SCN9A | c.3856A= (p.Ile1286=) c.3769-4436A= (n.3769-4436A=) c.3823A= (p.Ile1275=) n.612-14787T= c.3469A= (p.Ile1157=) c.3112A= (p.Ile1038=) | |
2 | g.166233409G>A | CA1943990 | SCN1A-AS1,SCN9A | c.3855C>T (p.Pro1285=) c.3769-4437C>T (n.3769-4437C>T) c.3822C>T (p.Pro1274=) n.612-14786G>A c.3468C>T (p.Pro1156=) c.3111C>T (p.Pro1037=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166233409G>C | CA429900503 | SCN1A-AS1,SCN9A | c.3855C>G (p.Pro1285=) c.3769-4437C>G (n.3769-4437C>G) c.3822C>G (p.Pro1274=) n.612-14786G>C c.3468C>G (p.Pro1156=) c.3111C>G (p.Pro1037=) | |
2 | g.166233409G= | CA1304946797 | SCN1A-AS1,SCN9A | c.3855C= (p.Pro1285=) c.3769-4437C= (n.3769-4437C=) c.3822C= (p.Pro1274=) n.612-14786G= c.3468C= (p.Pro1156=) c.3111C= (p.Pro1037=) | |
2 | g.166233409G>T | CA429900502 | SCN1A-AS1,SCN9A | c.3855C>A (p.Pro1285=) c.3769-4437C>A (n.3769-4437C>A) c.3822C>A (p.Pro1274=) n.612-14786G>T c.3468C>A (p.Pro1156=) c.3111C>A (p.Pro1037=) | gnomAD v4 |
2 | g.166233410G>A | CA349066538 | SCN1A-AS1,SCN9A | c.3854C>T (p.Pro1285Leu) c.3769-4438C>T (n.3769-4438C>T) c.3821C>T (p.Pro1274Leu) n.612-14785G>A c.3467C>T (p.Pro1156Leu) c.3110C>T (p.Pro1037Leu) | gnomAD v4 |
2 | g.166233410G>C | CA349066539 | SCN1A-AS1,SCN9A | c.3854C>G (p.Pro1285Arg) c.3769-4438C>G (n.3769-4438C>G) c.3821C>G (p.Pro1274Arg) n.612-14785G>C c.3467C>G (p.Pro1156Arg) c.3110C>G (p.Pro1037Arg) | |
2 | g.166233410G>T | CA349066541 | SCN1A-AS1,SCN9A | c.3854C>A (p.Pro1285His) c.3769-4438C>A (n.3769-4438C>A) c.3821C>A (p.Pro1274His) n.612-14785G>T c.3467C>A (p.Pro1156His) c.3110C>A (p.Pro1037His) | |
2 | g.166233411G>A | CA349066548 | SCN1A-AS1,SCN9A | c.3853C>T (p.Pro1285Ser) c.3769-4439C>T (n.3769-4439C>T) c.3820C>T (p.Pro1274Ser) n.612-14784G>A c.3466C>T (p.Pro1156Ser) c.3109C>T (p.Pro1037Ser) | gnomAD v4 |
2 | g.166233411G>C | CA349066546 | SCN1A-AS1,SCN9A | c.3853C>G (p.Pro1285Ala) c.3769-4439C>G (n.3769-4439C>G) c.3820C>G (p.Pro1274Ala) n.612-14784G>C c.3466C>G (p.Pro1156Ala) c.3109C>G (p.Pro1037Ala) | gnomAD v4 |
2 | g.166233411G>T | CA349066544 | SCN1A-AS1,SCN9A | c.3853C>A (p.Pro1285Thr) c.3769-4439C>A (n.3769-4439C>A) c.3820C>A (p.Pro1274Thr) n.612-14784G>T c.3466C>A (p.Pro1156Thr) c.3109C>A (p.Pro1037Thr) | |
2 | g.166233412G>A | CA429900506 | SCN1A-AS1,SCN9A | c.3852C>T (p.Gly1284=) c.3769-4440C>T (n.3769-4440C>T) c.3819C>T (p.Gly1273=) n.612-14783G>A c.3465C>T (p.Gly1155=) c.3108C>T (p.Gly1036=) | gnomAD v4 |
2 | g.166233412G>C | CA429900505 | SCN1A-AS1,SCN9A | c.3852C>G (p.Gly1284=) c.3769-4440C>G (n.3769-4440C>G) c.3819C>G (p.Gly1273=) n.612-14783G>C c.3465C>G (p.Gly1155=) c.3108C>G (p.Gly1036=) | |
2 | g.166233412G= | CA1304946802 | SCN1A-AS1,SCN9A | c.3852C= (p.Gly1284=) c.3769-4440C= (n.3769-4440C=) c.3819C= (p.Gly1273=) n.612-14783G= c.3465C= (p.Gly1155=) c.3108C= (p.Gly1036=) | |
2 | g.166233412G>T | CA429900504 | SCN1A-AS1,SCN9A | c.3852C>A (p.Gly1284=) c.3769-4440C>A (n.3769-4440C>A) c.3819C>A (p.Gly1273=) n.612-14783G>T c.3465C>A (p.Gly1155=) c.3108C>A (p.Gly1036=) | dbSNP gnomAD v4 |
2 | g.166233413C>A | CA349066551 | SCN1A-AS1,SCN9A | c.3851G>T (p.Gly1284Val) c.3769-4441G>T (n.3769-4441G>T) c.3818G>T (p.Gly1273Val) n.612-14782C>A c.3464G>T (p.Gly1155Val) c.3107G>T (p.Gly1036Val) | dbSNP gnomAD v4 |
2 | g.166233413C= | CA1304946806 | SCN1A-AS1,SCN9A | c.3851G= (p.Gly1284=) c.3769-4441G= (n.3769-4441G=) c.3818G= (p.Gly1273=) n.612-14782C= c.3464G= (p.Gly1155=) c.3107G= (p.Gly1036=) | |
2 | g.166233413C>G | CA349066552 | SCN1A-AS1,SCN9A | c.3851G>C (p.Gly1284Ala) c.3769-4441G>C (n.3769-4441G>C) c.3818G>C (p.Gly1273Ala) n.612-14782C>G c.3464G>C (p.Gly1155Ala) c.3107G>C (p.Gly1036Ala) | |
2 | g.166233413C>T | CA349066553 | SCN1A-AS1,SCN9A | c.3851G>A (p.Gly1284Asp) c.3769-4441G>A (n.3769-4441G>A) c.3818G>A (p.Gly1273Asp) n.612-14782C>T c.3464G>A (p.Gly1155Asp) c.3107G>A (p.Gly1036Asp) | dbSNP |
2 | g.166233414C>A | CA349066555 | SCN1A-AS1,SCN9A | c.3850G>T (p.Gly1284Cys) c.3769-4442G>T (n.3769-4442G>T) c.3817G>T (p.Gly1273Cys) n.612-14781C>A c.3463G>T (p.Gly1155Cys) c.3106G>T (p.Gly1036Cys) | |
2 | g.166233414C>G | CA349066557 | SCN1A-AS1,SCN9A | c.3850G>C (p.Gly1284Arg) c.3769-4442G>C (n.3769-4442G>C) c.3817G>C (p.Gly1273Arg) n.612-14781C>G c.3463G>C (p.Gly1155Arg) c.3106G>C (p.Gly1036Arg) | |
2 | g.166233414C>T | CA349066558 | SCN1A-AS1,SCN9A | c.3850G>A (p.Gly1284Ser) c.3769-4442G>A (n.3769-4442G>A) c.3817G>A (p.Gly1273Ser) n.612-14781C>T c.3463G>A (p.Gly1155Ser) c.3106G>A (p.Gly1036Ser) | gnomAD v4 |
2 | g.166233415A>C | CA429900507 | SCN1A-AS1,SCN9A | c.3849T>G (p.Leu1283=) c.3769-4443T>G (n.3769-4443T>G) c.3816T>G (p.Leu1272=) n.612-14780A>C c.3462T>G (p.Leu1154=) c.3105T>G (p.Leu1035=) | |
2 | g.166233415A>G | CA429900509 | SCN1A-AS1,SCN9A | c.3849T>C (p.Leu1283=) c.3769-4443T>C (n.3769-4443T>C) c.3816T>C (p.Leu1272=) n.612-14780A>G c.3462T>C (p.Leu1154=) c.3105T>C (p.Leu1035=) | gnomAD v4 |
2 | g.166233415A>T | CA429900508 | SCN1A-AS1,SCN9A | c.3849T>A (p.Leu1283=) c.3769-4443T>A (n.3769-4443T>A) c.3816T>A (p.Leu1272=) n.612-14780A>T c.3462T>A (p.Leu1154=) c.3105T>A (p.Leu1035=) | |
2 | g.166233416A>C | CA349066560 | SCN1A-AS1,SCN9A | c.3848T>G (p.Leu1283Arg) c.3769-4444T>G (n.3769-4444T>G) c.3815T>G (p.Leu1272Arg) n.612-14779A>C c.3461T>G (p.Leu1154Arg) c.3104T>G (p.Leu1035Arg) | COSMIC COSMIC |
2 | g.166233416A>G | CA349066564 | SCN1A-AS1,SCN9A | c.3848T>C (p.Leu1283Pro) c.3769-4444T>C (n.3769-4444T>C) c.3815T>C (p.Leu1272Pro) n.612-14779A>G c.3461T>C (p.Leu1154Pro) c.3104T>C (p.Leu1035Pro) | gnomAD v4 |
2 | g.166233416A>T | CA349066562 | SCN1A-AS1,SCN9A | c.3848T>A (p.Leu1283His) c.3769-4444T>A (n.3769-4444T>A) c.3815T>A (p.Leu1272His) n.612-14779A>T c.3461T>A (p.Leu1154His) c.3104T>A (p.Leu1035His) | |
2 | g.166233417G>A | CA349066567 | SCN1A-AS1,SCN9A | c.3847C>T (p.Leu1283Phe) c.3769-4445C>T (n.3769-4445C>T) c.3814C>T (p.Leu1272Phe) n.612-14778G>A c.3460C>T (p.Leu1154Phe) c.3103C>T (p.Leu1035Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166233417G>C | CA349066570 | SCN1A-AS1,SCN9A | c.3847C>G (p.Leu1283Val) c.3769-4445C>G (n.3769-4445C>G) c.3814C>G (p.Leu1272Val) n.612-14778G>C c.3460C>G (p.Leu1154Val) c.3103C>G (p.Leu1035Val) | |
2 | g.166233417G= | CA1304946809 | SCN1A-AS1,SCN9A | c.3847C= (p.Leu1283=) c.3769-4445C= (n.3769-4445C=) c.3814C= (p.Leu1272=) n.612-14778G= c.3460C= (p.Leu1154=) c.3103C= (p.Leu1035=) | |
2 | g.166233417G>T | CA349066568 | SCN1A-AS1,SCN9A | c.3847C>A (p.Leu1283Ile) c.3769-4445C>A (n.3769-4445C>A) c.3814C>A (p.Leu1272Ile) n.612-14778G>T c.3460C>A (p.Leu1154Ile) c.3103C>A (p.Leu1035Ile) | |
2 | g.166233418A>C | CA349066573 | SCN1A-AS1,SCN9A | c.3846T>G (p.Asp1282Glu) c.3769-4446T>G (n.3769-4446T>G) c.3813T>G (p.Asp1271Glu) n.612-14777A>C c.3459T>G (p.Asp1153Glu) c.3102T>G (p.Asp1034Glu) | |
2 | g.166233418A>G | CA429900510 | SCN1A-AS1,SCN9A | c.3846T>C (p.Asp1282=) c.3769-4446T>C (n.3769-4446T>C) c.3813T>C (p.Asp1271=) n.612-14777A>G c.3459T>C (p.Asp1153=) c.3102T>C (p.Asp1034=) | |
2 | g.166233418A>T | CA349066575 | SCN1A-AS1,SCN9A | c.3846T>A (p.Asp1282Glu) c.3769-4446T>A (n.3769-4446T>A) c.3813T>A (p.Asp1271Glu) n.612-14777A>T c.3459T>A (p.Asp1153Glu) c.3102T>A (p.Asp1034Glu) | |
2 | g.166233419T>A | CA349066578 | SCN1A-AS1,SCN9A | c.3845A>T (p.Asp1282Val) c.3769-4447A>T (n.3769-4447A>T) c.3812A>T (p.Asp1271Val) n.612-14776T>A c.3458A>T (p.Asp1153Val) c.3101A>T (p.Asp1034Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166233419T>C | CA349066582 | SCN1A-AS1,SCN9A | c.3845A>G (p.Asp1282Gly) c.3769-4447A>G (n.3769-4447A>G) c.3812A>G (p.Asp1271Gly) n.612-14776T>C c.3458A>G (p.Asp1153Gly) c.3101A>G (p.Asp1034Gly) | |
2 | g.166233419T>G | CA349066580 | SCN1A-AS1,SCN9A | c.3845A>C (p.Asp1282Ala) c.3769-4447A>C (n.3769-4447A>C) c.3812A>C (p.Asp1271Ala) n.612-14776T>G c.3458A>C (p.Asp1153Ala) c.3101A>C (p.Asp1034Ala) | |
2 | g.166233419T= | CA1304946812 | SCN1A-AS1,SCN9A | c.3845A= (p.Asp1282=) c.3769-4447A= (n.3769-4447A=) c.3812A= (p.Asp1271=) n.612-14776T= c.3458A= (p.Asp1153=) c.3101A= (p.Asp1034=) | |
2 | g.166233420C>A | CA349066585 | SCN1A-AS1,SCN9A | c.3844G>T (p.Asp1282Tyr) c.3769-4448G>T (n.3769-4448G>T) c.3811G>T (p.Asp1271Tyr) n.612-14775C>A c.3457G>T (p.Asp1153Tyr) c.3100G>T (p.Asp1034Tyr) | |
2 | g.166233420C= | CA1304946814 | SCN1A-AS1,SCN9A | c.3844G= (p.Asp1282=) c.3769-4448G= (n.3769-4448G=) c.3811G= (p.Asp1271=) n.612-14775C= c.3457G= (p.Asp1153=) c.3100G= (p.Asp1034=) | |
2 | g.166233420C>G | CA59812144 | SCN1A-AS1,SCN9A | c.3844G>C (p.Asp1282His) c.3769-4448G>C (n.3769-4448G>C) c.3811G>C (p.Asp1271His) n.612-14775C>G c.3457G>C (p.Asp1153His) c.3100G>C (p.Asp1034His) | dbSNP |
2 | g.166233420C>T | CA349066587 | SCN1A-AS1,SCN9A | c.3844G>A (p.Asp1282Asn) c.3769-4448G>A (n.3769-4448G>A) c.3811G>A (p.Asp1271Asn) n.612-14775C>T c.3457G>A (p.Asp1153Asn) c.3100G>A (p.Asp1034Asn) | |
2 | g.166233421T>A | CA1943991 | SCN1A-AS1,SCN9A | c.3843A>T (p.Ser1281=) c.3769-4449A>T (n.3769-4449A>T) c.3810A>T (p.Ser1270=) n.612-14774T>A c.3456A>T (p.Ser1152=) c.3099A>T (p.Ser1033=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166233421T>C | CA429900511 | SCN1A-AS1,SCN9A | c.3843A>G (p.Ser1281=) c.3769-4449A>G (n.3769-4449A>G) c.3810A>G (p.Ser1270=) n.612-14774T>C c.3456A>G (p.Ser1152=) c.3099A>G (p.Ser1033=) | gnomAD v4 |
2 | g.166233421T>G | CA429900512 | SCN1A-AS1,SCN9A | c.3843A>C (p.Ser1281=) c.3769-4449A>C (n.3769-4449A>C) c.3810A>C (p.Ser1270=) n.612-14774T>G c.3456A>C (p.Ser1152=) c.3099A>C (p.Ser1033=) | |
2 | g.166233421T= | CA1304946822 | SCN1A-AS1,SCN9A | c.3843A= (p.Ser1281=) c.3769-4449A= (n.3769-4449A=) c.3810A= (p.Ser1270=) n.612-14774T= c.3456A= (p.Ser1152=) c.3099A= (p.Ser1033=) | |
2 | g.166233422G>A | CA349066590 | SCN1A-AS1,SCN9A | c.3842C>T (p.Ser1281Leu) c.3769-4450C>T (n.3769-4450C>T) c.3809C>T (p.Ser1270Leu) n.612-14773G>A c.3455C>T (p.Ser1152Leu) c.3098C>T (p.Ser1033Leu) | gnomAD v4 |
2 | g.166233422G>C | CA349066591 | SCN1A-AS1,SCN9A | c.3842C>G (p.Ser1281Ter) c.3769-4450C>G (n.3769-4450C>G) c.3809C>G (p.Ser1270Ter) n.612-14773G>C c.3455C>G (p.Ser1152Ter) c.3098C>G (p.Ser1033Ter) | |
2 | g.166233422G>T | CA349066592 | SCN1A-AS1,SCN9A | c.3842C>A (p.Ser1281Ter) c.3769-4450C>A (n.3769-4450C>A) c.3809C>A (p.Ser1270Ter) n.612-14773G>T c.3455C>A (p.Ser1152Ter) c.3098C>A (p.Ser1033Ter) | |
2 | g.166233423A>C | CA349066594 | SCN1A-AS1,SCN9A | c.3841T>G (p.Ser1281Ala) c.3769-4451T>G (n.3769-4451T>G) c.3808T>G (p.Ser1270Ala) n.612-14772A>C c.3454T>G (p.Ser1152Ala) c.3097T>G (p.Ser1033Ala) | |
2 | g.166233423A>G | CA349066596 | SCN1A-AS1,SCN9A | c.3841T>C (p.Ser1281Pro) c.3769-4451T>C (n.3769-4451T>C) c.3808T>C (p.Ser1270Pro) n.612-14772A>G c.3454T>C (p.Ser1152Pro) c.3097T>C (p.Ser1033Pro) | gnomAD v4 |
2 | g.166233423A>T | CA349066597 | SCN1A-AS1,SCN9A | c.3841T>A (p.Ser1281Thr) c.3769-4451T>A (n.3769-4451T>A) c.3808T>A (p.Ser1270Thr) n.612-14772A>T c.3454T>A (p.Ser1152Thr) c.3097T>A (p.Ser1033Thr) | |
2 | g.166233424G>A | CA429900513 | SCN1A-AS1,SCN9A | c.3840C>T (p.Tyr1280=) c.3769-4452C>T (n.3769-4452C>T) c.3807C>T (p.Tyr1269=) n.612-14771G>A c.3453C>T (p.Tyr1151=) c.3096C>T (p.Tyr1032=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166233424G>C | CA349066600 | SCN1A-AS1,SCN9A | c.3840C>G (p.Tyr1280Ter) c.3769-4452C>G (n.3769-4452C>G) c.3807C>G (p.Tyr1269Ter) n.612-14771G>C c.3453C>G (p.Tyr1151Ter) c.3096C>G (p.Tyr1032Ter) | |
2 | g.166233424G= | CA1304946826 | SCN1A-AS1,SCN9A | c.3840C= (p.Tyr1280=) c.3769-4452C= (n.3769-4452C=) c.3807C= (p.Tyr1269=) n.612-14771G= c.3453C= (p.Tyr1151=) c.3096C= (p.Tyr1032=) | |
2 | g.166233424G>T | CA349066599 | SCN1A-AS1,SCN9A | c.3840C>A (p.Tyr1280Ter) c.3769-4452C>A (n.3769-4452C>A) c.3807C>A (p.Tyr1269Ter) n.612-14771G>T c.3453C>A (p.Tyr1151Ter) c.3096C>A (p.Tyr1032Ter) | gnomAD v4 |
2 | g.166233425T>A | CA349066601 | SCN1A-AS1,SCN9A | c.3839A>T (p.Tyr1280Phe) c.3769-4453A>T (n.3769-4453A>T) c.3806A>T (p.Tyr1269Phe) n.612-14770T>A c.3452A>T (p.Tyr1151Phe) c.3095A>T (p.Tyr1032Phe) | ClinVar |
2 | g.166233425T>C | CA59812152 | SCN1A-AS1,SCN9A | c.3839A>G (p.Tyr1280Cys) c.3769-4453A>G (n.3769-4453A>G) c.3806A>G (p.Tyr1269Cys) n.612-14770T>C c.3452A>G (p.Tyr1151Cys) c.3095A>G (p.Tyr1032Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166233425T>G | CA349066605 | SCN1A-AS1,SCN9A | c.3839A>C (p.Tyr1280Ser) c.3769-4453A>C (n.3769-4453A>C) c.3806A>C (p.Tyr1269Ser) n.612-14770T>G c.3452A>C (p.Tyr1151Ser) c.3095A>C (p.Tyr1032Ser) | ClinVar dbSNP |
2 | g.166233425T= | CA1304946833 | SCN1A-AS1,SCN9A | c.3839A= (p.Tyr1280=) c.3769-4453A= (n.3769-4453A=) c.3806A= (p.Tyr1269=) n.612-14770T= c.3452A= (p.Tyr1151=) c.3095A= (p.Tyr1032=) | |
2 | g.166233425_166233426insGGCCA | CA2606309735 | SCN1A-AS1,SCN9A | c.3838_3839insTGGCC (p.Tyr1280LeufsTer15) c.3769-4454_3769-4453insTGGCC (n.3769-4454_3769-4453insTGGCC) c.3805_3806insTGGCC (p.Tyr1269LeufsTer15) n.612-14770_612-14769insGGCCA c.3451_3452insTGGCC (p.Tyr1151LeufsTer15) c.3094_3095insTGGCC (p.Tyr1032LeufsTer15) | gnomAD v3 gnomAD v4 |
2 | g.166233426A= | CA1304946842 | SCN1A-AS1,SCN9A | c.3838T= (p.Tyr1280=) c.3769-4454T= (n.3769-4454T=) c.3805T= (p.Tyr1269=) n.612-14769A= c.3451T= (p.Tyr1151=) c.3094T= (p.Tyr1032=) | |
2 | g.166233426A>C | CA349066608 | SCN1A-AS1,SCN9A | c.3838T>G (p.Tyr1280Asp) c.3769-4454T>G (n.3769-4454T>G) c.3805T>G (p.Tyr1269Asp) n.612-14769A>C c.3451T>G (p.Tyr1151Asp) c.3094T>G (p.Tyr1032Asp) | |
2 | g.166233426A>G | CA349066611 | SCN1A-AS1,SCN9A | c.3838T>C (p.Tyr1280His) c.3769-4454T>C (n.3769-4454T>C) c.3805T>C (p.Tyr1269His) n.612-14769A>G c.3451T>C (p.Tyr1151His) c.3094T>C (p.Tyr1032His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166233426A>T | CA349066613 | SCN1A-AS1,SCN9A | c.3838T>A (p.Tyr1280Asn) c.3769-4454T>A (n.3769-4454T>A) c.3805T>A (p.Tyr1269Asn) n.612-14769A>T c.3451T>A (p.Tyr1151Asn) c.3094T>A (p.Tyr1032Asn) | ClinVar dbSNP |
2 | g.166233427G>A | CA429900514 | SCN1A-AS1,SCN9A | c.3837C>T (p.Gly1279=) c.3769-4455C>T (n.3769-4455C>T) c.3804C>T (p.Gly1268=) n.612-14768G>A c.3450C>T (p.Gly1150=) c.3093C>T (p.Gly1031=) | |
2 | g.166233427G>C | CA429900515 | SCN1A-AS1,SCN9A | c.3837C>G (p.Gly1279=) c.3769-4455C>G (n.3769-4455C>G) c.3804C>G (p.Gly1268=) n.612-14768G>C c.3450C>G (p.Gly1150=) c.3093C>G (p.Gly1031=) | |
2 | g.166233427G>T | CA429900516 | SCN1A-AS1,SCN9A | c.3837C>A (p.Gly1279=) c.3769-4455C>A (n.3769-4455C>A) c.3804C>A (p.Gly1268=) n.612-14768G>T c.3450C>A (p.Gly1150=) c.3093C>A (p.Gly1031=) | |
2 | g.166233427_166233428insATCTGAGTAT | CA2606309736 | SCN1A-AS1,SCN9A | c.3836_3837insATACTCAGAT (p.Gly1284LeufsTer7) c.3769-4456_3769-4455insATACTCAGAT (n.3769-4456_3769-4455insATACTCAGAT) c.3803_3804insATACTCAGAT (p.Gly1273LeufsTer7) n.612-14768_612-14767insATCTGAGTAT c.3449_3450insATACTCAGAT (p.Gly1155LeufsTer7) c.3092_3093insATACTCAGAT (p.Gly1036LeufsTer7) | gnomAD v3 gnomAD v4 |
2 | g.166233428C>A | CA349066616 | SCN1A-AS1,SCN9A | c.3836G>T (p.Gly1279Val) c.3769-4456G>T (n.3769-4456G>T) c.3803G>T (p.Gly1268Val) n.612-14767C>A c.3449G>T (p.Gly1150Val) c.3092G>T (p.Gly1031Val) | gnomAD v4 |
2 | g.166233428C>G | CA349066619 | SCN1A-AS1,SCN9A | c.3836G>C (p.Gly1279Ala) c.3769-4456G>C (n.3769-4456G>C) c.3803G>C (p.Gly1268Ala) n.612-14767C>G c.3449G>C (p.Gly1150Ala) c.3092G>C (p.Gly1031Ala) | gnomAD v4 |
2 | g.166233428C>T | CA349066618 | SCN1A-AS1,SCN9A | c.3836G>A (p.Gly1279Asp) c.3769-4456G>A (n.3769-4456G>A) c.3803G>A (p.Gly1268Asp) n.612-14767C>T c.3449G>A (p.Gly1150Asp) c.3092G>A (p.Gly1031Asp) | |
2 | g.166233429C>A | CA349066620 | SCN1A-AS1,SCN9A | c.3835G>T (p.Gly1279Cys) c.3769-4457G>T (n.3769-4457G>T) c.3802G>T (p.Gly1268Cys) n.612-14766C>A c.3448G>T (p.Gly1150Cys) c.3091G>T (p.Gly1031Cys) | gnomAD v4 |
2 | g.166233429C= | CA1304946849 | SCN1A-AS1,SCN9A | c.3835G= (p.Gly1279=) c.3769-4457G= (n.3769-4457G=) c.3802G= (p.Gly1268=) n.612-14766C= c.3448G= (p.Gly1150=) c.3091G= (p.Gly1031=) | |
2 | g.166233429C>G | CA349066622 | SCN1A-AS1,SCN9A | c.3835G>C (p.Gly1279Arg) c.3769-4457G>C (n.3769-4457G>C) c.3802G>C (p.Gly1268Arg) n.612-14766C>G c.3448G>C (p.Gly1150Arg) c.3091G>C (p.Gly1031Arg) | |
2 | g.166233429C>T | CA349066624 | SCN1A-AS1,SCN9A | c.3835G>A (p.Gly1279Ser) c.3769-4457G>A (n.3769-4457G>A) c.3802G>A (p.Gly1268Ser) n.612-14766C>T c.3448G>A (p.Gly1150Ser) c.3091G>A (p.Gly1031Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166233430A= | CA1304946854 | SCN1A-AS1,SCN9A | c.3834T= (p.Leu1278=) c.3769-4458T= (n.3769-4458T=) c.3801T= (p.Leu1267=) n.612-14765A= c.3447T= (p.Leu1149=) c.3090T= (p.Leu1030=) | |
2 | g.166233430A>C | CA429900519 | SCN1A-AS1,SCN9A | c.3834T>G (p.Leu1278=) c.3769-4458T>G (n.3769-4458T>G) c.3801T>G (p.Leu1267=) n.612-14765A>C c.3447T>G (p.Leu1149=) c.3090T>G (p.Leu1030=) | ClinVar dbSNP |
2 | g.166233430A>G | CA429900518 | SCN1A-AS1,SCN9A | c.3834T>C (p.Leu1278=) c.3769-4458T>C (n.3769-4458T>C) c.3801T>C (p.Leu1267=) n.612-14765A>G c.3447T>C (p.Leu1149=) c.3090T>C (p.Leu1030=) | gnomAD v4 |
2 | g.166233430A>T | CA429900517 | SCN1A-AS1,SCN9A | c.3834T>A (p.Leu1278=) c.3769-4458T>A (n.3769-4458T>A) c.3801T>A (p.Leu1267=) n.612-14765A>T c.3447T>A (p.Leu1149=) c.3090T>A (p.Leu1030=) | |
2 | g.166233431A= | CA1304946861 | SCN1A-AS1,SCN9A | c.3833T= (p.Leu1278=) c.3769-4459T= (n.3769-4459T=) c.3800T= (p.Leu1267=) n.612-14764A= c.3446T= (p.Leu1149=) c.3089T= (p.Leu1030=) | |
2 | g.166233431A>C | CA59812155 | SCN1A-AS1,SCN9A | c.3833T>G (p.Leu1278Arg) c.3769-4459T>G (n.3769-4459T>G) c.3800T>G (p.Leu1267Arg) n.612-14764A>C c.3446T>G (p.Leu1149Arg) c.3089T>G (p.Leu1030Arg) | dbSNP |
2 | g.166233431A>G | CA349066627 | SCN1A-AS1,SCN9A | c.3833T>C (p.Leu1278Pro) c.3769-4459T>C (n.3769-4459T>C) c.3800T>C (p.Leu1267Pro) n.612-14764A>G c.3446T>C (p.Leu1149Pro) c.3089T>C (p.Leu1030Pro) | gnomAD v4 |
2 | g.166233431A>T | CA349066629 | SCN1A-AS1,SCN9A | c.3833T>A (p.Leu1278His) c.3769-4459T>A (n.3769-4459T>A) c.3800T>A (p.Leu1267His) n.612-14764A>T c.3446T>A (p.Leu1149His) c.3089T>A (p.Leu1030His) | |
2 | g.166233432G>A | CA349066631 | SCN1A-AS1,SCN9A | c.3832C>T (p.Leu1278Phe) c.3769-4460C>T (n.3769-4460C>T) c.3799C>T (p.Leu1267Phe) n.612-14763G>A c.3445C>T (p.Leu1149Phe) c.3088C>T (p.Leu1030Phe) | |
2 | g.166233432G>C | CA201841 | SCN1A-AS1,SCN9A | c.3832C>G (p.Leu1278Val) c.3769-4460C>G (n.3769-4460C>G) c.3799C>G (p.Leu1267Val) n.612-14763G>C c.3445C>G (p.Leu1149Val) c.3088C>G (p.Leu1030Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166233432G= | CA1304946868 | SCN1A-AS1,SCN9A | c.3832C= (p.Leu1278=) c.3769-4460C= (n.3769-4460C=) c.3799C= (p.Leu1267=) n.612-14763G= c.3445C= (p.Leu1149=) c.3088C= (p.Leu1030=) | |
2 | g.166233432G>T | CA349066635 | SCN1A-AS1,SCN9A | c.3832C>A (p.Leu1278Ile) c.3769-4460C>A (n.3769-4460C>A) c.3799C>A (p.Leu1267Ile) n.612-14763G>T c.3445C>A (p.Leu1149Ile) c.3088C>A (p.Leu1030Ile) | |
2 | g.166233433A>C | CA429900520 | SCN1A-AS1,SCN9A | c.3831T>G (p.Thr1277=) c.3769-4461T>G (n.3769-4461T>G) c.3798T>G (p.Thr1266=) n.612-14762A>C c.3444T>G (p.Thr1148=) c.3087T>G (p.Thr1029=) | |
2 | g.166233433A>G | CA429900522 | SCN1A-AS1,SCN9A | c.3831T>C (p.Thr1277=) c.3769-4461T>C (n.3769-4461T>C) c.3798T>C (p.Thr1266=) n.612-14762A>G c.3444T>C (p.Thr1148=) c.3087T>C (p.Thr1029=) | gnomAD v4 |
2 | g.166233433A>T | CA429900521 | SCN1A-AS1,SCN9A | c.3831T>A (p.Thr1277=) c.3769-4461T>A (n.3769-4461T>A) c.3798T>A (p.Thr1266=) n.612-14762A>T c.3444T>A (p.Thr1148=) c.3087T>A (p.Thr1029=) | |
2 | g.166233434G>A | CA349066638 | SCN1A-AS1,SCN9A | c.3830C>T (p.Thr1277Ile) c.3769-4462C>T (n.3769-4462C>T) c.3797C>T (p.Thr1266Ile) n.612-14761G>A c.3443C>T (p.Thr1148Ile) c.3086C>T (p.Thr1029Ile) | |
2 | g.166233434G>C | CA1943992 | SCN1A-AS1,SCN9A | c.3830C>G (p.Thr1277Ser) c.3769-4462C>G (n.3769-4462C>G) c.3797C>G (p.Thr1266Ser) n.612-14761G>C c.3443C>G (p.Thr1148Ser) c.3086C>G (p.Thr1029Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166233434G= | CA1304946875 | SCN1A-AS1,SCN9A | c.3830C= (p.Thr1277=) c.3769-4462C= (n.3769-4462C=) c.3797C= (p.Thr1266=) n.612-14761G= c.3443C= (p.Thr1148=) c.3086C= (p.Thr1029=) | |
2 | g.166233434G>T | CA349066641 | SCN1A-AS1,SCN9A | c.3830C>A (p.Thr1277Asn) c.3769-4462C>A (n.3769-4462C>A) c.3797C>A (p.Thr1266Asn) n.612-14761G>T c.3443C>A (p.Thr1148Asn) c.3086C>A (p.Thr1029Asn) | |
2 | g.166233435T>A | CA349066644 | SCN1A-AS1,SCN9A | c.3829A>T (p.Thr1277Ser) c.3769-4463A>T (n.3769-4463A>T) c.3796A>T (p.Thr1266Ser) n.612-14760T>A c.3442A>T (p.Thr1148Ser) c.3085A>T (p.Thr1029Ser) | |
2 | g.166233435T>C | CA349066648 | SCN1A-AS1,SCN9A | c.3829A>G (p.Thr1277Ala) c.3769-4463A>G (n.3769-4463A>G) c.3796A>G (p.Thr1266Ala) n.612-14760T>C c.3442A>G (p.Thr1148Ala) c.3085A>G (p.Thr1029Ala) | |
2 | g.166233435T>G | CA349066646 | SCN1A-AS1,SCN9A | c.3829A>C (p.Thr1277Pro) c.3769-4463A>C (n.3769-4463A>C) c.3796A>C (p.Thr1266Pro) n.612-14760T>G c.3442A>C (p.Thr1148Pro) c.3085A>C (p.Thr1029Pro) | |
2 | g.166233436G>A | CA429900523 | SCN1A-AS1,SCN9A | c.3828C>T (p.Asn1276=) c.3769-4464C>T (n.3769-4464C>T) c.3795C>T (p.Asn1265=) n.612-14759G>A c.3441C>T (p.Asn1147=) c.3084C>T (p.Asn1028=) | gnomAD v4 |
2 | g.166233436G>C | CA349066651 | SCN1A-AS1,SCN9A | c.3828C>G (p.Asn1276Lys) c.3769-4464C>G (n.3769-4464C>G) c.3795C>G (p.Asn1265Lys) n.612-14759G>C c.3441C>G (p.Asn1147Lys) c.3084C>G (p.Asn1028Lys) | |
2 | g.166233436G>T | CA349066653 | SCN1A-AS1,SCN9A | c.3828C>A (p.Asn1276Lys) c.3769-4464C>A (n.3769-4464C>A) c.3795C>A (p.Asn1265Lys) n.612-14759G>T c.3441C>A (p.Asn1147Lys) c.3084C>A (p.Asn1028Lys) | |
2 | g.166233437T>A | CA349066655 | SCN1A-AS1,SCN9A | c.3827A>T (p.Asn1276Ile) c.3769-4465A>T (n.3769-4465A>T) c.3794A>T (p.Asn1265Ile) n.612-14758T>A c.3440A>T (p.Asn1147Ile) c.3083A>T (p.Asn1028Ile) | ClinVar dbSNP |
2 | g.166233437T>C | CA349066657 | SCN1A-AS1,SCN9A | c.3827A>G (p.Asn1276Ser) c.3769-4465A>G (n.3769-4465A>G) c.3794A>G (p.Asn1265Ser) n.612-14758T>C c.3440A>G (p.Asn1147Ser) c.3083A>G (p.Asn1028Ser) | |
2 | g.166233437T>G | CA349066659 | SCN1A-AS1,SCN9A | c.3827A>C (p.Asn1276Thr) c.3769-4465A>C (n.3769-4465A>C) c.3794A>C (p.Asn1265Thr) n.612-14758T>G c.3440A>C (p.Asn1147Thr) c.3083A>C (p.Asn1028Thr) | |
2 | g.166233437T= | CA1304946887 | SCN1A-AS1,SCN9A | c.3827A= (p.Asn1276=) c.3769-4465A= (n.3769-4465A=) c.3794A= (p.Asn1265=) n.612-14758T= c.3440A= (p.Asn1147=) c.3083A= (p.Asn1028=) | |
2 | g.166233438T>A | CA349066666 | SCN1A-AS1,SCN9A | c.3826A>T (p.Asn1276Tyr) c.3769-4466A>T (n.3769-4466A>T) c.3793A>T (p.Asn1265Tyr) n.612-14757T>A c.3439A>T (p.Asn1147Tyr) c.3082A>T (p.Asn1028Tyr) | |
2 | g.166233438T>C | CA349066664 | SCN1A-AS1,SCN9A | c.3826A>G (p.Asn1276Asp) c.3769-4466A>G (n.3769-4466A>G) c.3793A>G (p.Asn1265Asp) n.612-14757T>C c.3439A>G (p.Asn1147Asp) c.3082A>G (p.Asn1028Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.166233438T>G | CA349066662 | SCN1A-AS1,SCN9A | c.3826A>C (p.Asn1276His) c.3769-4466A>C (n.3769-4466A>C) c.3793A>C (p.Asn1265His) n.612-14757T>G c.3439A>C (p.Asn1147His) c.3082A>C (p.Asn1028His) | |
2 | g.166233438T= | CA1304946891 | SCN1A-AS1,SCN9A | c.3826A= (p.Asn1276=) c.3769-4466A= (n.3769-4466A=) c.3793A= (p.Asn1265=) n.612-14757T= c.3439A= (p.Asn1147=) c.3082A= (p.Asn1028=) | |
2 | g.166233439T>A | CA429900524 | SCN1A-AS1,SCN9A | c.3825A>T (p.Ala1275=) c.3769-4467A>T (n.3769-4467A>T) c.3792A>T (p.Ala1264=) n.612-14756T>A c.3438A>T (p.Ala1146=) c.3081A>T (p.Ala1027=) | |
2 | g.166233439T>C | CA429900525 | SCN1A-AS1,SCN9A | c.3825A>G (p.Ala1275=) c.3769-4467A>G (n.3769-4467A>G) c.3792A>G (p.Ala1264=) n.612-14756T>C c.3438A>G (p.Ala1146=) c.3081A>G (p.Ala1027=) | gnomAD v4 |
2 | g.166233439T>G | CA429900526 | SCN1A-AS1,SCN9A | c.3825A>C (p.Ala1275=) c.3769-4467A>C (n.3769-4467A>C) c.3792A>C (p.Ala1264=) n.612-14756T>G c.3438A>C (p.Ala1146=) c.3081A>C (p.Ala1027=) | |
2 | g.166233440G>A | CA349066667 | SCN1A-AS1,SCN9A | c.3824C>T (p.Ala1275Val) c.3769-4468C>T (n.3769-4468C>T) c.3791C>T (p.Ala1264Val) n.612-14755G>A c.3437C>T (p.Ala1146Val) c.3080C>T (p.Ala1027Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166233440G>C | CA349066668 | SCN1A-AS1,SCN9A | c.3824C>G (p.Ala1275Gly) c.3769-4468C>G (n.3769-4468C>G) c.3791C>G (p.Ala1264Gly) n.612-14755G>C c.3437C>G (p.Ala1146Gly) c.3080C>G (p.Ala1027Gly) | gnomAD v4 |
2 | g.166233440G= | CA1304946894 | SCN1A-AS1,SCN9A | c.3824C= (p.Ala1275=) c.3769-4468C= (n.3769-4468C=) c.3791C= (p.Ala1264=) n.612-14755G= c.3437C= (p.Ala1146=) c.3080C= (p.Ala1027=) | |
2 | g.166233440G>T | CA349066672 | SCN1A-AS1,SCN9A | c.3824C>A (p.Ala1275Glu) c.3769-4468C>A (n.3769-4468C>A) c.3791C>A (p.Ala1264Glu) n.612-14755G>T c.3437C>A (p.Ala1146Glu) c.3080C>A (p.Ala1027Glu) | gnomAD v4 |
2 | g.166233441C>A | CA349066674 | SCN1A-AS1,SCN9A | c.3823G>T (p.Ala1275Ser) c.3769-4469G>T (n.3769-4469G>T) c.3790G>T (p.Ala1264Ser) n.612-14754C>A c.3436G>T (p.Ala1146Ser) c.3079G>T (p.Ala1027Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.166233441C= | CA1304946899 | SCN1A-AS1,SCN9A | c.3823G= (p.Ala1275=) c.3769-4469G= (n.3769-4469G=) c.3790G= (p.Ala1264=) n.612-14754C= c.3436G= (p.Ala1146=) c.3079G= (p.Ala1027=) | |
2 | g.166233441C>G | CA349066676 | SCN1A-AS1,SCN9A | c.3823G>C (p.Ala1275Pro) c.3769-4469G>C (n.3769-4469G>C) c.3790G>C (p.Ala1264Pro) n.612-14754C>G c.3436G>C (p.Ala1146Pro) c.3079G>C (p.Ala1027Pro) | |
2 | g.166233441C>T | CA349066677 | SCN1A-AS1,SCN9A | c.3823G>A (p.Ala1275Thr) c.3769-4469G>A (n.3769-4469G>A) c.3790G>A (p.Ala1264Thr) n.612-14754C>T c.3436G>A (p.Ala1146Thr) c.3079G>A (p.Ala1027Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166233442C>A | CA429900528 | SCN1A-AS1,SCN9A | c.3822G>T (p.Val1274=) c.3769-4470G>T (n.3769-4470G>T) c.3789G>T (p.Val1263=) n.612-14753C>A c.3435G>T (p.Val1145=) c.3078G>T (p.Val1026=) | dbSNP gnomAD v2 |
2 | g.166233442C= | CA1304946902 | SCN1A-AS1,SCN9A | c.3822G= (p.Val1274=) c.3769-4470G= (n.3769-4470G=) c.3789G= (p.Val1263=) n.612-14753C= c.3435G= (p.Val1145=) c.3078G= (p.Val1026=) | |
2 | g.166233442C>G | CA429900529 | SCN1A-AS1,SCN9A | c.3822G>C (p.Val1274=) c.3769-4470G>C (n.3769-4470G>C) c.3789G>C (p.Val1263=) n.612-14753C>G c.3435G>C (p.Val1145=) c.3078G>C (p.Val1026=) | |
2 | g.166233442C>T | CA429900527 | SCN1A-AS1,SCN9A | c.3822G>A (p.Val1274=) c.3769-4470G>A (n.3769-4470G>A) c.3789G>A (p.Val1263=) n.612-14753C>T c.3435G>A (p.Val1145=) c.3078G>A (p.Val1026=) | |
2 | g.166233443A>C | CA349066679 | SCN1A-AS1,SCN9A | c.3821T>G (p.Val1274Gly) c.3769-4471T>G (n.3769-4471T>G) c.3788T>G (p.Val1263Gly) n.612-14752A>C c.3434T>G (p.Val1145Gly) c.3077T>G (p.Val1026Gly) | gnomAD v4 |
2 | g.166233443A>G | CA349066683 | SCN1A-AS1,SCN9A | c.3821T>C (p.Val1274Ala) c.3769-4471T>C (n.3769-4471T>C) c.3788T>C (p.Val1263Ala) n.612-14752A>G c.3434T>C (p.Val1145Ala) c.3077T>C (p.Val1026Ala) | gnomAD v4 |
2 | g.166233443A>T | CA349066681 | SCN1A-AS1,SCN9A | c.3821T>A (p.Val1274Glu) c.3769-4471T>A (n.3769-4471T>A) c.3788T>A (p.Val1263Glu) n.612-14752A>T c.3434T>A (p.Val1145Glu) c.3077T>A (p.Val1026Glu) | |
2 | g.166233444C>A | CA349066685 | SCN1A-AS1,SCN9A | c.3820G>T (p.Val1274Leu) c.3769-4472G>T (n.3769-4472G>T) c.3787G>T (p.Val1263Leu) n.612-14751C>A c.3433G>T (p.Val1145Leu) c.3076G>T (p.Val1026Leu) | |
2 | g.166233444C= | CA1304946907 | SCN1A-AS1,SCN9A | c.3820G= (p.Val1274=) c.3769-4472G= (n.3769-4472G=) c.3787G= (p.Val1263=) n.612-14751C= c.3433G= (p.Val1145=) c.3076G= (p.Val1026=) | |
2 | g.166233444C>G | CA349066688 | SCN1A-AS1,SCN9A | c.3820G>C (p.Val1274Leu) c.3769-4472G>C (n.3769-4472G>C) c.3787G>C (p.Val1263Leu) n.612-14751C>G c.3433G>C (p.Val1145Leu) c.3076G>C (p.Val1026Leu) | |
2 | g.166233444C>T | CA1943993 | SCN1A-AS1,SCN9A | c.3820G>A (p.Val1274Met) c.3769-4472G>A (n.3769-4472G>A) c.3787G>A (p.Val1263Met) n.612-14751C>T c.3433G>A (p.Val1145Met) c.3076G>A (p.Val1026Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166233445T>A | CA349066691 | SCN1A-AS1,SCN9A | c.3819A>T (p.Leu1273Phe) c.3769-4473A>T (n.3769-4473A>T) c.3786A>T (p.Leu1262Phe) n.612-14750T>A c.3432A>T (p.Leu1144Phe) c.3075A>T (p.Leu1025Phe) | |
2 | g.166233445T>C | CA429900530 | SCN1A-AS1,SCN9A | c.3819A>G (p.Leu1273=) c.3769-4473A>G (n.3769-4473A>G) c.3786A>G (p.Leu1262=) n.612-14750T>C c.3432A>G (p.Leu1144=) c.3075A>G (p.Leu1025=) | |
2 | g.166233445T>G | CA349066692 | SCN1A-AS1,SCN9A | c.3819A>C (p.Leu1273Phe) c.3769-4473A>C (n.3769-4473A>C) c.3786A>C (p.Leu1262Phe) n.612-14750T>G c.3432A>C (p.Leu1144Phe) c.3075A>C (p.Leu1025Phe) | |
2 | g.166233445_166233446delinsTA | CA1304946912 | SCN1A-AS1,SCN9A | c.3818_3819delinsTA (p.Leu1273=) c.3769-4474_3769-4473delinsTA (n.3769-4474_3769-4473delinsTA) c.3785_3786delinsTA (p.Leu1262=) n.612-14750_612-14749delinsTA c.3431_3432delinsTA (p.Leu1144=) c.3074_3075delinsTA (p.Leu1025=) | |
2 | g.166233446A>C | CA349066696 | SCN1A-AS1,SCN9A | c.3818T>G (p.Leu1273Ter) c.3769-4474T>G (n.3769-4474T>G) c.3785T>G (p.Leu1262Ter) n.612-14749A>C c.3431T>G (p.Leu1144Ter) c.3074T>G (p.Leu1025Ter) | |
2 | g.166233446A>G | CA349066698 | SCN1A-AS1,SCN9A | c.3818T>C (p.Leu1273Ser) c.3769-4474T>C (n.3769-4474T>C) c.3785T>C (p.Leu1262Ser) n.612-14749A>G c.3431T>C (p.Leu1144Ser) c.3074T>C (p.Leu1025Ser) | gnomAD v4 |
2 | g.166233446A>T | CA349066700 | SCN1A-AS1,SCN9A | c.3818T>A (p.Leu1273Ter) c.3769-4474T>A (n.3769-4474T>A) c.3785T>A (p.Leu1262Ter) n.612-14749A>T c.3431T>A (p.Leu1144Ter) c.3074T>A (p.Leu1025Ter) | |
2 | g.166233448del | CA537511604 | SCN1A-AS1,SCN9A | c.3818del (p.Leu1273Ter) c.3769-4474del (n.3769-4474del) c.3785del (p.Leu1262Ter) n.612-14747del c.3431del (p.Leu1144Ter) c.3074del (p.Leu1025Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166233447A>C | CA349066702 | SCN1A-AS1,SCN9A | c.3817T>G (p.Leu1273Val) c.3769-4475T>G (n.3769-4475T>G) c.3784T>G (p.Leu1262Val) n.612-14748A>C c.3430T>G (p.Leu1144Val) c.3073T>G (p.Leu1025Val) | |
2 | g.166233447A>G | CA429900531 | SCN1A-AS1,SCN9A | c.3817T>C (p.Leu1273=) c.3769-4475T>C (n.3769-4475T>C) c.3784T>C (p.Leu1262=) n.612-14748A>G c.3430T>C (p.Leu1144=) c.3073T>C (p.Leu1025=) | gnomAD v4 |
2 | g.166233447A>T | CA349066703 | SCN1A-AS1,SCN9A | c.3817T>A (p.Leu1273Ile) c.3769-4475T>A (n.3769-4475T>A) c.3784T>A (p.Leu1262Ile) n.612-14748A>T c.3430T>A (p.Leu1144Ile) c.3073T>A (p.Leu1025Ile) | |
2 | g.166233448A>C | CA429900532 | SCN1A-AS1,SCN9A | c.3816T>G (p.Thr1272=) c.3769-4476T>G (n.3769-4476T>G) c.3783T>G (p.Thr1261=) n.612-14747A>C c.3429T>G (p.Thr1143=) c.3072T>G (p.Thr1024=) | |
2 | g.166233448A>G | CA429900533 | SCN1A-AS1,SCN9A | c.3816T>C (p.Thr1272=) c.3769-4476T>C (n.3769-4476T>C) c.3783T>C (p.Thr1261=) n.612-14747A>G c.3429T>C (p.Thr1143=) c.3072T>C (p.Thr1024=) | |
2 | g.166233448A>T | CA429900534 | SCN1A-AS1,SCN9A | c.3816T>A (p.Thr1272=) c.3769-4476T>A (n.3769-4476T>A) c.3783T>A (p.Thr1261=) n.612-14747A>T c.3429T>A (p.Thr1143=) c.3072T>A (p.Thr1024=) | |
2 | g.166233449G>A | CA349066706 | SCN1A-AS1,SCN9A | c.3815C>T (p.Thr1272Ile) c.3769-4477C>T (n.3769-4477C>T) c.3782C>T (p.Thr1261Ile) n.612-14746G>A c.3428C>T (p.Thr1143Ile) c.3071C>T (p.Thr1024Ile) | ClinVar gnomAD v4 |
2 | g.166233449G>C | CA349066710 | SCN1A-AS1,SCN9A | c.3815C>G (p.Thr1272Ser) c.3769-4477C>G (n.3769-4477C>G) c.3782C>G (p.Thr1261Ser) n.612-14746G>C c.3428C>G (p.Thr1143Ser) c.3071C>G (p.Thr1024Ser) | |
2 | g.166233449G= | CA1304946919 | SCN1A-AS1,SCN9A | c.3815C= (p.Thr1272=) c.3769-4477C= (n.3769-4477C=) c.3782C= (p.Thr1261=) n.612-14746G= c.3428C= (p.Thr1143=) c.3071C= (p.Thr1024=) | |
2 | g.166233449G>T | CA349066708 | SCN1A-AS1,SCN9A | c.3815C>A (p.Thr1272Asn) c.3769-4477C>A (n.3769-4477C>A) c.3782C>A (p.Thr1261Asn) n.612-14746G>T c.3428C>A (p.Thr1143Asn) c.3071C>A (p.Thr1024Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166233450T>A | CA349066712 | SCN1A-AS1,SCN9A | c.3814A>T (p.Thr1272Ser) c.3769-4478A>T (n.3769-4478A>T) c.3781A>T (p.Thr1261Ser) n.612-14745T>A c.3427A>T (p.Thr1143Ser) c.3070A>T (p.Thr1024Ser) | |
2 | g.166233450T>C | CA349066716 | SCN1A-AS1,SCN9A | c.3814A>G (p.Thr1272Ala) c.3769-4478A>G (n.3769-4478A>G) c.3781A>G (p.Thr1261Ala) n.612-14745T>C c.3427A>G (p.Thr1143Ala) c.3070A>G (p.Thr1024Ala) | gnomAD v4 |
2 | g.166233450T>G | CA349066714 | SCN1A-AS1,SCN9A | c.3814A>C (p.Thr1272Pro) c.3769-4478A>C (n.3769-4478A>C) c.3781A>C (p.Thr1261Pro) n.612-14745T>G c.3427A>C (p.Thr1143Pro) c.3070A>C (p.Thr1024Pro) | |
2 | g.166233451A>C | CA429900535 | SCN1A-AS1,SCN9A | c.3813T>G (p.Val1271=) c.3769-4479T>G (n.3769-4479T>G) c.3780T>G (p.Val1260=) n.612-14744A>C c.3426T>G (p.Val1142=) c.3069T>G (p.Val1023=) | |
2 | g.166233451A>G | CA429900536 | SCN1A-AS1,SCN9A | c.3813T>C (p.Val1271=) c.3769-4479T>C (n.3769-4479T>C) c.3780T>C (p.Val1260=) n.612-14744A>G c.3426T>C (p.Val1142=) c.3069T>C (p.Val1023=) | gnomAD v4 |
2 | g.166233451A>T | CA429900537 | SCN1A-AS1,SCN9A | c.3813T>A (p.Val1271=) c.3769-4479T>A (n.3769-4479T>A) c.3780T>A (p.Val1260=) n.612-14744A>T c.3426T>A (p.Val1142=) c.3069T>A (p.Val1023=) | |
2 | g.166233452A>C | CA349066718 | SCN1A-AS1,SCN9A | c.3812T>G (p.Val1271Gly) c.3769-4480T>G (n.3769-4480T>G) c.3779T>G (p.Val1260Gly) n.612-14743A>C c.3425T>G (p.Val1142Gly) c.3068T>G (p.Val1023Gly) | |
2 | g.166233452A>G | CA349066720 | SCN1A-AS1,SCN9A | c.3812T>C (p.Val1271Ala) c.3769-4480T>C (n.3769-4480T>C) c.3779T>C (p.Val1260Ala) n.612-14743A>G c.3425T>C (p.Val1142Ala) c.3068T>C (p.Val1023Ala) | gnomAD v4 |
2 | g.166233452A>T | CA349066722 | SCN1A-AS1,SCN9A | c.3812T>A (p.Val1271Asp) c.3769-4480T>A (n.3769-4480T>A) c.3779T>A (p.Val1260Asp) n.612-14743A>T c.3425T>A (p.Val1142Asp) c.3068T>A (p.Val1023Asp) | |
2 | g.166233453C>A | CA349066724 | SCN1A-AS1,SCN9A | c.3811G>T (p.Val1271Phe) c.3769-4481G>T (n.3769-4481G>T) c.3778G>T (p.Val1260Phe) n.612-14742C>A c.3424G>T (p.Val1142Phe) c.3067G>T (p.Val1023Phe) | gnomAD v4 |
2 | g.166233453C>G | CA349066726 | SCN1A-AS1,SCN9A | c.3811G>C (p.Val1271Leu) c.3769-4481G>C (n.3769-4481G>C) c.3778G>C (p.Val1260Leu) n.612-14742C>G c.3424G>C (p.Val1142Leu) c.3067G>C (p.Val1023Leu) | gnomAD v4 |
2 | g.166233453C>T | CA349066728 | SCN1A-AS1,SCN9A | c.3811G>A (p.Val1271Ile) c.3769-4481G>A (n.3769-4481G>A) c.3778G>A (p.Val1260Ile) n.612-14742C>T c.3424G>A (p.Val1142Ile) c.3067G>A (p.Val1023Ile) | |
2 | g.166233454C>A | CA59812165 | SCN1A-AS1,SCN9A | c.3810G>T (p.Leu1270Phe) c.3769-4482G>T (n.3769-4482G>T) c.3777G>T (p.Leu1259Phe) n.612-14741C>A c.3423G>T (p.Leu1141Phe) c.3066G>T (p.Leu1022Phe) | ClinVar dbSNP gnomAD v4 |
2 | g.166233454C= | CA1304946926 | SCN1A-AS1,SCN9A | c.3810G= (p.Leu1270=) c.3769-4482G= (n.3769-4482G=) c.3777G= (p.Leu1259=) n.612-14741C= c.3423G= (p.Leu1141=) c.3066G= (p.Leu1022=) | |
2 | g.166233454C>G | CA349066731 | SCN1A-AS1,SCN9A | c.3810G>C (p.Leu1270Phe) c.3769-4482G>C (n.3769-4482G>C) c.3777G>C (p.Leu1259Phe) n.612-14741C>G c.3423G>C (p.Leu1141Phe) c.3066G>C (p.Leu1022Phe) | |
2 | g.166233454C>T | CA429900538 | SCN1A-AS1,SCN9A | c.3810G>A (p.Leu1270=) c.3769-4482G>A (n.3769-4482G>A) c.3777G>A (p.Leu1259=) n.612-14741C>T c.3423G>A (p.Leu1141=) c.3066G>A (p.Leu1022=) | dbSNP |
2 | g.166233455A= | CA1304946933 | SCN1A-AS1,SCN9A | c.3809T= (p.Leu1270=) c.3769-4483T= (n.3769-4483T=) c.3776T= (p.Leu1259=) n.612-14740A= c.3422T= (p.Leu1141=) c.3065T= (p.Leu1022=) | |
2 | g.166233455A>C | CA349066733 | SCN1A-AS1,SCN9A | c.3809T>G (p.Leu1270Trp) c.3769-4483T>G (n.3769-4483T>G) c.3776T>G (p.Leu1259Trp) n.612-14740A>C c.3422T>G (p.Leu1141Trp) c.3065T>G (p.Leu1022Trp) | |
2 | g.166233455A>G | CA59812169 | SCN1A-AS1,SCN9A | c.3809T>C (p.Leu1270Ser) c.3769-4483T>C (n.3769-4483T>C) c.3776T>C (p.Leu1259Ser) n.612-14740A>G c.3422T>C (p.Leu1141Ser) c.3065T>C (p.Leu1022Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166233455A>T | CA349066736 | SCN1A-AS1,SCN9A | c.3809T>A (p.Leu1270Ter) c.3769-4483T>A (n.3769-4483T>A) c.3776T>A (p.Leu1259Ter) n.612-14740A>T c.3422T>A (p.Leu1141Ter) c.3065T>A (p.Leu1022Ter) | dbSNP |
2 | g.166233456A>C | CA349066738 | SCN1A-AS1,SCN9A | c.3808T>G (p.Leu1270Val) c.3769-4484T>G (n.3769-4484T>G) c.3775T>G (p.Leu1259Val) n.612-14739A>C c.3421T>G (p.Leu1141Val) c.3064T>G (p.Leu1022Val) | gnomAD v4 |
2 | g.166233456A>G | CA429900539 | SCN1A-AS1,SCN9A | c.3808T>C (p.Leu1270=) c.3769-4484T>C (n.3769-4484T>C) c.3775T>C (p.Leu1259=) n.612-14739A>G c.3421T>C (p.Leu1141=) c.3064T>C (p.Leu1022=) | |
2 | g.166233456A>T | CA349066740 | SCN1A-AS1,SCN9A | c.3808T>A (p.Leu1270Met) c.3769-4484T>A (n.3769-4484T>A) c.3775T>A (p.Leu1259Met) n.612-14739A>T c.3421T>A (p.Leu1141Met) c.3064T>A (p.Leu1022Met) | |
2 | g.166233457A= | CA1304946939 | SCN1A-AS1,SCN9A | c.3807T= (p.Ser1269=) c.3769-4485T= (n.3769-4485T=) c.3774T= (p.Ser1258=) n.612-14738A= c.3420T= (p.Ser1140=) c.3063T= (p.Ser1021=) | |
2 | g.166233457A>C | CA429900540 | SCN1A-AS1,SCN9A | c.3807T>G (p.Ser1269=) c.3769-4485T>G (n.3769-4485T>G) c.3774T>G (p.Ser1258=) n.612-14738A>C c.3420T>G (p.Ser1140=) c.3063T>G (p.Ser1021=) | |
2 | g.166233457A>G | CA429900541 | SCN1A-AS1,SCN9A | c.3807T>C (p.Ser1269=) c.3769-4485T>C (n.3769-4485T>C) c.3774T>C (p.Ser1258=) n.612-14738A>G c.3420T>C (p.Ser1140=) c.3063T>C (p.Ser1021=) | gnomAD v4 |
2 | g.166233457A>T | CA429900542 | SCN1A-AS1,SCN9A | c.3807T>A (p.Ser1269=) c.3769-4485T>A (n.3769-4485T>A) c.3774T>A (p.Ser1258=) n.612-14738A>T c.3420T>A (p.Ser1140=) c.3063T>A (p.Ser1021=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166233458G>A | CA349066743 | SCN1A-AS1,SCN9A | c.3806C>T (p.Ser1269Phe) c.3769-4486C>T (n.3769-4486C>T) c.3773C>T (p.Ser1258Phe) n.612-14737G>A c.3419C>T (p.Ser1140Phe) c.3062C>T (p.Ser1021Phe) | gnomAD v4 COSMIC COSMIC |
2 | g.166233458G>C | CA349066747 | SCN1A-AS1,SCN9A | c.3806C>G (p.Ser1269Cys) c.3769-4486C>G (n.3769-4486C>G) c.3773C>G (p.Ser1258Cys) n.612-14737G>C c.3419C>G (p.Ser1140Cys) c.3062C>G (p.Ser1021Cys) | gnomAD v4 |
2 | g.166233458G>T | CA349066745 | SCN1A-AS1,SCN9A | c.3806C>A (p.Ser1269Tyr) c.3769-4486C>A (n.3769-4486C>A) c.3773C>A (p.Ser1258Tyr) n.612-14737G>T c.3419C>A (p.Ser1140Tyr) c.3062C>A (p.Ser1021Tyr) | |
2 | g.166233459A>C | CA349066750 | SCN1A-AS1,SCN9A | c.3805T>G (p.Ser1269Ala) c.3769-4487T>G (n.3769-4487T>G) c.3772T>G (p.Ser1258Ala) n.612-14736A>C c.3418T>G (p.Ser1140Ala) c.3061T>G (p.Ser1021Ala) | |
2 | g.166233459A>G | CA349066751 | SCN1A-AS1,SCN9A | c.3805T>C (p.Ser1269Pro) c.3769-4487T>C (n.3769-4487T>C) c.3772T>C (p.Ser1258Pro) n.612-14736A>G c.3418T>C (p.Ser1140Pro) c.3061T>C (p.Ser1021Pro) | |
2 | g.166233459A>T | CA349066753 | SCN1A-AS1,SCN9A | c.3805T>A (p.Ser1269Thr) c.3769-4487T>A (n.3769-4487T>A) c.3772T>A (p.Ser1258Thr) n.612-14736A>T c.3418T>A (p.Ser1140Thr) c.3061T>A (p.Ser1021Thr) | |
2 | g.166233460A>C | CA429900543 | SCN1A-AS1,SCN9A | c.3804T>G (p.Val1268=) c.3769-4488T>G (n.3769-4488T>G) c.3771T>G (p.Val1257=) n.612-14735A>C c.3417T>G (p.Val1139=) c.3060T>G (p.Val1020=) | |
2 | g.166233460A>G | CA429900544 | SCN1A-AS1,SCN9A | c.3804T>C (p.Val1268=) c.3769-4488T>C (n.3769-4488T>C) c.3771T>C (p.Val1257=) n.612-14735A>G c.3417T>C (p.Val1139=) c.3060T>C (p.Val1020=) | gnomAD v4 |
2 | g.166233460A>T | CA429900545 | SCN1A-AS1,SCN9A | c.3804T>A (p.Val1268=) c.3769-4488T>A (n.3769-4488T>A) c.3771T>A (p.Val1257=) n.612-14735A>T c.3417T>A (p.Val1139=) c.3060T>A (p.Val1020=) | gnomAD v4 |
2 | g.166233461A>C | CA349066755 | SCN1A-AS1,SCN9A | c.3803T>G (p.Val1268Gly) c.3769-4489T>G (n.3769-4489T>G) c.3770T>G (p.Val1257Gly) n.612-14734A>C c.3416T>G (p.Val1139Gly) c.3059T>G (p.Val1020Gly) | |
2 | g.166233461A>G | CA349066757 | SCN1A-AS1,SCN9A | c.3803T>C (p.Val1268Ala) c.3769-4489T>C (n.3769-4489T>C) c.3770T>C (p.Val1257Ala) n.612-14734A>G c.3416T>C (p.Val1139Ala) c.3059T>C (p.Val1020Ala) | gnomAD v4 |
2 | g.166233461A>T | CA349066759 | SCN1A-AS1,SCN9A | c.3803T>A (p.Val1268Asp) c.3769-4489T>A (n.3769-4489T>A) c.3770T>A (p.Val1257Asp) n.612-14734A>T c.3416T>A (p.Val1139Asp) c.3059T>A (p.Val1020Asp) | |
2 | g.166233462C>A | CA349066762 | SCN1A-AS1,SCN9A | c.3802G>T (p.Val1268Phe) c.3769-4490G>T (n.3769-4490G>T) c.3769G>T (p.Val1257Phe) n.612-14733C>A c.3415G>T (p.Val1139Phe) c.3058G>T (p.Val1020Phe) | gnomAD v4 |
2 | g.166233462C>G | CA349066764 | SCN1A-AS1,SCN9A | c.3802G>C (p.Val1268Leu) c.3769-4490G>C (n.3769-4490G>C) c.3769G>C (p.Val1257Leu) n.612-14733C>G c.3415G>C (p.Val1139Leu) c.3058G>C (p.Val1020Leu) | |
2 | g.166233462C>T | CA349066765 | SCN1A-AS1,SCN9A | c.3802G>A (p.Val1268Ile) c.3769-4490G>A (n.3769-4490G>A) c.3769G>A (p.Val1257Ile) n.612-14733C>T c.3415G>A (p.Val1139Ile) c.3058G>A (p.Val1020Ile) | |
2 | g.166233463C>A | CA349066773 | SCN1A-AS1,SCN9A | c.3802-1G>T (n.3802-1G>T) c.3769-4491G>T (n.3769-4491G>T) c.3769-1G>T (n.3769-1G>T) n.612-14732C>A c.3415-1G>T (n.3415-1G>T) c.3058-1G>T (n.3058-1G>T) | gnomAD v4 |
2 | g.166233463C>G | CA349066770 | SCN1A-AS1,SCN9A | c.3802-1G>C (n.3802-1G>C) c.3769-4491G>C (n.3769-4491G>C) c.3769-1G>C (n.3769-1G>C) n.612-14732C>G c.3415-1G>C (n.3415-1G>C) c.3058-1G>C (n.3058-1G>C) | |
2 | g.166233463C>T | CA349066769 | SCN1A-AS1,SCN9A | c.3802-1G>A (n.3802-1G>A) c.3769-4491G>A (n.3769-4491G>A) c.3769-1G>A (n.3769-1G>A) n.612-14732C>T c.3415-1G>A (n.3415-1G>A) c.3058-1G>A (n.3058-1G>A) | gnomAD v4 |
2 | g.166233464T>A | CA349066776 | SCN1A-AS1,SCN9A | c.3802-2A>T (n.3802-2A>T) c.3769-4492A>T (n.3769-4492A>T) c.3769-2A>T (n.3769-2A>T) n.612-14731T>A c.3415-2A>T (n.3415-2A>T) c.3058-2A>T (n.3058-2A>T) | |
2 | g.166233464T>C | CA349066778 | SCN1A-AS1,SCN9A | c.3802-2A>G (n.3802-2A>G) c.3769-4492A>G (n.3769-4492A>G) c.3769-2A>G (n.3769-2A>G) n.612-14731T>C c.3415-2A>G (n.3415-2A>G) c.3058-2A>G (n.3058-2A>G) | gnomAD v4 |
2 | g.166233464T>G | CA349066780 | SCN1A-AS1,SCN9A | c.3802-2A>C (n.3802-2A>C) c.3769-4492A>C (n.3769-4492A>C) c.3769-2A>C (n.3769-2A>C) n.612-14731T>G c.3415-2A>C (n.3415-2A>C) c.3058-2A>C (n.3058-2A>C) | |
2 | g.166233465A= | CA1304946945 | SCN1A-AS1,SCN9A | c.3802-3T= (n.3802-3T=) c.3769-4493T= (n.3769-4493T=) c.3769-3T= (n.3769-3T=) n.612-14730A= c.3415-3T= (n.3415-3T=) c.3058-3T= (n.3058-3T=) | |
2 | g.166233465A>G | CA1943994 | SCN1A-AS1,SCN9A | c.3802-3T>C (n.3802-3T>C) c.3769-4493T>C (n.3769-4493T>C) c.3769-3T>C (n.3769-3T>C) n.612-14730A>G c.3415-3T>C (n.3415-3T>C) c.3058-3T>C (n.3058-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166233466T>A | CA2581842792 | SCN1A-AS1,SCN9A | c.3802-4A>T (n.3802-4A>T) c.3769-4494A>T (n.3769-4494A>T) c.3769-4A>T (n.3769-4A>T) n.612-14729T>A c.3415-4A>T (n.3415-4A>T) c.3058-4A>T (n.3058-4A>T) | gnomAD v4 |
2 | g.166233466T>C | CA155131 | SCN1A-AS1,SCN9A | c.3802-4A>G (n.3802-4A>G) c.3769-4494A>G (n.3769-4494A>G) c.3769-4A>G (n.3769-4A>G) n.612-14729T>C c.3415-4A>G (n.3415-4A>G) c.3058-4A>G (n.3058-4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166233466T>G | CA2581842791 | SCN1A-AS1,SCN9A | c.3802-4A>C (n.3802-4A>C) c.3769-4494A>C (n.3769-4494A>C) c.3769-4A>C (n.3769-4A>C) n.612-14729T>G c.3415-4A>C (n.3415-4A>C) c.3058-4A>C (n.3058-4A>C) | |
2 | g.166233466T= | CA1304946953 | SCN1A-AS1,SCN9A | c.3802-4A= (n.3802-4A=) c.3769-4494A= (n.3769-4494A=) c.3769-4A= (n.3769-4A=) n.612-14729T= c.3415-4A= (n.3415-4A=) c.3058-4A= (n.3058-4A=) | |
2 | g.166233466_166233468delinsTAA | CA1304946955 | SCN1A-AS1,SCN9A | c.3802-6_3802-4delinsTTA (n.3802-6_3802-4delinsTTA) c.3769-4496_3769-4494delinsTTA (n.3769-4496_3769-4494delinsTTA) c.3769-6_3769-4delinsTTA (n.3769-6_3769-4delinsTTA) n.612-14729_612-14727delinsTAA c.3415-6_3415-4delinsTTA (n.3415-6_3415-4delinsTTA) c.3058-6_3058-4delinsTTA (n.3058-6_3058-4delinsTTA) | |
2 | g.166233470_166233471del | CA760187421 | SCN1A-AS1,SCN9A | c.3802-6_3802-5del (n.3802-6_3802-5del) c.3769-4496_3769-4495del (n.3769-4496_3769-4495del) c.3769-6_3769-5del (n.3769-6_3769-5del) n.612-14725_612-14724del c.3415-6_3415-5del (n.3415-6_3415-5del) c.3058-6_3058-5del (n.3058-6_3058-5del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166233468A= | CA1304946963 | SCN1A-AS1,SCN9A | c.3802-6T= (n.3802-6T=) c.3769-4496T= (n.3769-4496T=) c.3769-6T= (n.3769-6T=) n.612-14727A= c.3415-6T= (n.3415-6T=) c.3058-6T= (n.3058-6T=) | |
2 | g.166233468A>C | CA1038851406 | SCN1A-AS1,SCN9A | c.3802-6T>G (n.3802-6T>G) c.3769-4496T>G (n.3769-4496T>G) c.3769-6T>G (n.3769-6T>G) n.612-14727A>C c.3415-6T>G (n.3415-6T>G) c.3058-6T>G (n.3058-6T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166233470A= | CA1304946967 | SCN1A-AS1,SCN9A | c.3802-8T= (n.3802-8T=) c.3769-4498T= (n.3769-4498T=) c.3769-8T= (n.3769-8T=) n.612-14725A= c.3415-8T= (n.3415-8T=) c.3058-8T= (n.3058-8T=) | |
2 | g.166233470A>G | CA155132 | SCN1A-AS1,SCN9A | c.3802-8T>C (n.3802-8T>C) c.3769-4498T>C (n.3769-4498T>C) c.3769-8T>C (n.3769-8T>C) n.612-14725A>G c.3415-8T>C (n.3415-8T>C) c.3058-8T>C (n.3058-8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166233471A>G | CA2661765698 | SCN1A-AS1,SCN9A | c.3802-9T>C (n.3802-9T>C) c.3769-4499T>C (n.3769-4499T>C) c.3769-9T>C (n.3769-9T>C) n.612-14724A>G c.3415-9T>C (n.3415-9T>C) c.3058-9T>C (n.3058-9T>C) | gnomAD v4 |
2 | g.166233472del | CA2540566775 | SCN1A-AS1,SCN9A | c.3802-10del (n.3802-10del) c.3769-4500del (n.3769-4500del) c.3769-10del (n.3769-10del) n.612-14723del c.3415-10del (n.3415-10del) c.3058-10del (n.3058-10del) | |
2 | g.166233472T>A | CA1304946974 | SCN1A-AS1,SCN9A | c.3802-10A>T (n.3802-10A>T) c.3769-4500A>T (n.3769-4500A>T) c.3769-10A>T (n.3769-10A>T) n.612-14723T>A c.3415-10A>T (n.3415-10A>T) c.3058-10A>T (n.3058-10A>T) | dbSNP |
2 | g.166233472T= | CA1304946972 | SCN1A-AS1,SCN9A | c.3802-10A= (n.3802-10A=) c.3769-4500A= (n.3769-4500A=) c.3769-10A= (n.3769-10A=) n.612-14723T= c.3415-10A= (n.3415-10A=) c.3058-10A= (n.3058-10A=) | |
2 | g.166233473A>G | CA2661765699 | SCN1A-AS1,SCN9A | c.3802-11T>C (n.3802-11T>C) c.3769-4501T>C (n.3769-4501T>C) c.3769-11T>C (n.3769-11T>C) n.612-14722A>G c.3415-11T>C (n.3415-11T>C) c.3058-11T>C (n.3058-11T>C) | gnomAD v4 |
2 | g.166233474A>G | CA2661765700 | SCN1A-AS1,SCN9A | c.3802-12T>C (n.3802-12T>C) c.3769-4502T>C (n.3769-4502T>C) c.3769-12T>C (n.3769-12T>C) n.612-14721A>G c.3415-12T>C (n.3415-12T>C) c.3058-12T>C (n.3058-12T>C) | gnomAD v4 |
2 | g.166233474_166233475delinsAC | CA1304946977 | SCN1A-AS1,SCN9A | c.3802-13_3802-12delinsGT (n.3802-13_3802-12delinsGT) c.3769-4503_3769-4502delinsGT (n.3769-4503_3769-4502delinsGT) c.3769-13_3769-12delinsGT (n.3769-13_3769-12delinsGT) n.612-14721_612-14720delinsAC c.3415-13_3415-12delinsGT (n.3415-13_3415-12delinsGT) c.3058-13_3058-12delinsGT (n.3058-13_3058-12delinsGT) | |
2 | g.166233475del | CA1943995 | SCN1A-AS1,SCN9A | c.3802-13del (n.3802-13del) c.3769-4503del (n.3769-4503del) c.3769-13del (n.3769-13del) n.612-14720del c.3415-13del (n.3415-13del) c.3058-13del (n.3058-13del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166233475C>A | CA59812181 | SCN1A-AS1,SCN9A | c.3802-13G>T (n.3802-13G>T) c.3769-4503G>T (n.3769-4503G>T) c.3769-13G>T (n.3769-13G>T) n.612-14720C>A c.3415-13G>T (n.3415-13G>T) c.3058-13G>T (n.3058-13G>T) | dbSNP |
2 | g.166233475C= | CA1304946984 | SCN1A-AS1,SCN9A | c.3802-13G= (n.3802-13G=) c.3769-4503G= (n.3769-4503G=) c.3769-13G= (n.3769-13G=) n.612-14720C= c.3415-13G= (n.3415-13G=) c.3058-13G= (n.3058-13G=) | |
2 | g.166233475C>T | CA2580064310 | SCN1A-AS1,SCN9A | c.3802-13G>A (n.3802-13G>A) c.3769-4503G>A (n.3769-4503G>A) c.3769-13G>A (n.3769-13G>A) n.612-14720C>T c.3415-13G>A (n.3415-13G>A) c.3058-13G>A (n.3058-13G>A) | ClinVar gnomAD v4 |
2 | g.166233476del | CA349067360 | SCN1A-AS1,SCN9A | c.3802-14del (n.3802-14del) c.3769-4504del (n.3769-4504del) c.3769-14del (n.3769-14del) n.612-14719del c.3415-14del (n.3415-14del) c.3058-14del (n.3058-14del) | |
2 | g.166233476A= | CA1304946989 | SCN1A-AS1,SCN9A | c.3802-14T= (n.3802-14T=) c.3769-4504T= (n.3769-4504T=) c.3769-14T= (n.3769-14T=) n.612-14719A= c.3415-14T= (n.3415-14T=) c.3058-14T= (n.3058-14T=) | |
2 | g.166233476A>G | CA2661765701 | SCN1A-AS1,SCN9A | c.3802-14T>C (n.3802-14T>C) c.3769-4504T>C (n.3769-4504T>C) c.3769-14T>C (n.3769-14T>C) n.612-14719A>G c.3415-14T>C (n.3415-14T>C) c.3058-14T>C (n.3058-14T>C) | gnomAD v4 |
2 | g.166233476A>T | CA1304946990 | SCN1A-AS1,SCN9A | c.3802-14T>A (n.3802-14T>A) c.3769-4504T>A (n.3769-4504T>A) c.3769-14T>A (n.3769-14T>A) n.612-14719A>T c.3415-14T>A (n.3415-14T>A) c.3058-14T>A (n.3058-14T>A) | dbSNP |
2 | g.166233478T>C | CA2661765702 | SCN1A-AS1,SCN9A | c.3802-16A>G (n.3802-16A>G) c.3769-4506A>G (n.3769-4506A>G) c.3769-16A>G (n.3769-16A>G) n.612-14717T>C c.3415-16A>G (n.3415-16A>G) c.3058-16A>G (n.3058-16A>G) | gnomAD v4 |
2 | g.166233479T>C | CA2661765703 | SCN1A-AS1,SCN9A | c.3802-17A>G (n.3802-17A>G) c.3769-4507A>G (n.3769-4507A>G) c.3769-17A>G (n.3769-17A>G) n.612-14716T>C c.3415-17A>G (n.3415-17A>G) c.3058-17A>G (n.3058-17A>G) | gnomAD v4 |
2 | g.166233479T>G | CA2661765704 | SCN1A-AS1,SCN9A | c.3802-17A>C (n.3802-17A>C) c.3769-4507A>C (n.3769-4507A>C) c.3769-17A>C (n.3769-17A>C) n.612-14716T>G c.3415-17A>C (n.3415-17A>C) c.3058-17A>C (n.3058-17A>C) | gnomAD v4 |
2 | g.166233480T>A | CA2661765705 | SCN1A-AS1,SCN9A | c.3802-18A>T (n.3802-18A>T) c.3769-4508A>T (n.3769-4508A>T) c.3769-18A>T (n.3769-18A>T) n.612-14715T>A c.3415-18A>T (n.3415-18A>T) c.3058-18A>T (n.3058-18A>T) | gnomAD v4 |
2 | g.166233480T>C | CA1038851419 | SCN1A-AS1,SCN9A | c.3802-18A>G (n.3802-18A>G) c.3769-4508A>G (n.3769-4508A>G) c.3769-18A>G (n.3769-18A>G) n.612-14715T>C c.3415-18A>G (n.3415-18A>G) c.3058-18A>G (n.3058-18A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166233480T= | CA1304946992 | SCN1A-AS1,SCN9A | c.3802-18A= (n.3802-18A=) c.3769-4508A= (n.3769-4508A=) c.3769-18A= (n.3769-18A=) n.612-14715T= c.3415-18A= (n.3415-18A=) c.3058-18A= (n.3058-18A=) |