Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166233346T>A | CA429900367 | SCN1A-AS1,SCN9A | c.3918A>T (p.Gly1306=) c.3769-4374A>T (n.3769-4374A>T) c.3885A>T (p.Gly1295=) n.612-14849T>A c.3531A>T (p.Gly1177=) c.3174A>T (p.Gly1058=) | COSMIC COSMIC |
2 | g.166233346T>C | CA429900369 | SCN1A-AS1,SCN9A | c.3918A>G (p.Gly1306=) c.3769-4374A>G (n.3769-4374A>G) c.3885A>G (p.Gly1295=) n.612-14849T>C c.3531A>G (p.Gly1177=) c.3174A>G (p.Gly1058=) | gnomAD v4 |
2 | g.166233346T>G | CA429900368 | SCN1A-AS1,SCN9A | c.3918A>C (p.Gly1306=) c.3769-4374A>C (n.3769-4374A>C) c.3885A>C (p.Gly1295=) n.612-14849T>G c.3531A>C (p.Gly1177=) c.3174A>C (p.Gly1058=) | |
2 | g.166233347C>A | CA349066287 | SCN1A-AS1,SCN9A | c.3917G>T (p.Gly1306Val) c.3769-4375G>T (n.3769-4375G>T) c.3884G>T (p.Gly1295Val) n.612-14848C>A c.3530G>T (p.Gly1177Val) c.3173G>T (p.Gly1058Val) | |
2 | g.166233347C>G | CA349066289 | SCN1A-AS1,SCN9A | c.3917G>C (p.Gly1306Ala) c.3769-4375G>C (n.3769-4375G>C) c.3884G>C (p.Gly1295Ala) n.612-14848C>G c.3530G>C (p.Gly1177Ala) c.3173G>C (p.Gly1058Ala) | |
2 | g.166233347C>T | CA349066291 | SCN1A-AS1,SCN9A | c.3917G>A (p.Gly1306Glu) c.3769-4375G>A (n.3769-4375G>A) c.3884G>A (p.Gly1295Glu) n.612-14848C>T c.3530G>A (p.Gly1177Glu) c.3173G>A (p.Gly1058Glu) | gnomAD v4 |
2 | g.166233348C>A | CA349066294 | SCN1A-AS1,SCN9A | c.3916G>T (p.Gly1306Ter) c.3769-4376G>T (n.3769-4376G>T) c.3883G>T (p.Gly1295Ter) n.612-14847C>A c.3529G>T (p.Gly1177Ter) c.3172G>T (p.Gly1058Ter) | dbSNP gnomAD v4 |
2 | g.166233348C= | CA1304946683 | SCN1A-AS1,SCN9A | c.3916G= (p.Gly1306=) c.3769-4376G= (n.3769-4376G=) c.3883G= (p.Gly1295=) n.612-14847C= c.3529G= (p.Gly1177=) c.3172G= (p.Gly1058=) | |
2 | g.166233348C>G | CA349066297 | SCN1A-AS1,SCN9A | c.3916G>C (p.Gly1306Arg) c.3769-4376G>C (n.3769-4376G>C) c.3883G>C (p.Gly1295Arg) n.612-14847C>G c.3529G>C (p.Gly1177Arg) c.3172G>C (p.Gly1058Arg) | |
2 | g.166233348C>T | CA349066299 | SCN1A-AS1,SCN9A | c.3916G>A (p.Gly1306Arg) c.3769-4376G>A (n.3769-4376G>A) c.3883G>A (p.Gly1295Arg) n.612-14847C>T c.3529G>A (p.Gly1177Arg) c.3172G>A (p.Gly1058Arg) | gnomAD v4 |
2 | g.166233349T>A | CA349066302 | SCN1A-AS1,SCN9A | c.3915A>T (p.Glu1305Asp) c.3769-4377A>T (n.3769-4377A>T) c.3882A>T (p.Glu1294Asp) n.612-14846T>A c.3528A>T (p.Glu1176Asp) c.3171A>T (p.Glu1057Asp) | gnomAD v4 |
2 | g.166233349T>C | CA429900376 | SCN1A-AS1,SCN9A | c.3915A>G (p.Glu1305=) c.3769-4377A>G (n.3769-4377A>G) c.3882A>G (p.Glu1294=) n.612-14846T>C c.3528A>G (p.Glu1176=) c.3171A>G (p.Glu1057=) | gnomAD v4 |
2 | g.166233349T>G | CA349066303 | SCN1A-AS1,SCN9A | c.3915A>C (p.Glu1305Asp) c.3769-4377A>C (n.3769-4377A>C) c.3882A>C (p.Glu1294Asp) n.612-14846T>G c.3528A>C (p.Glu1176Asp) c.3171A>C (p.Glu1057Asp) | |
2 | g.166233350T>A | CA349066310 | SCN1A-AS1,SCN9A | c.3914A>T (p.Glu1305Val) c.3769-4378A>T (n.3769-4378A>T) c.3881A>T (p.Glu1294Val) n.612-14845T>A c.3527A>T (p.Glu1176Val) c.3170A>T (p.Glu1057Val) | |
2 | g.166233350T>C | CA349066308 | SCN1A-AS1,SCN9A | c.3914A>G (p.Glu1305Gly) c.3769-4378A>G (n.3769-4378A>G) c.3881A>G (p.Glu1294Gly) n.612-14845T>C c.3527A>G (p.Glu1176Gly) c.3170A>G (p.Glu1057Gly) | gnomAD v4 |
2 | g.166233350T>G | CA349066307 | SCN1A-AS1,SCN9A | c.3914A>C (p.Glu1305Ala) c.3769-4378A>C (n.3769-4378A>C) c.3881A>C (p.Glu1294Ala) n.612-14845T>G c.3527A>C (p.Glu1176Ala) c.3170A>C (p.Glu1057Ala) | |
2 | g.166233351C>A | CA349066312 | SCN1A-AS1,SCN9A | c.3913G>T (p.Glu1305Ter) c.3769-4379G>T (n.3769-4379G>T) c.3880G>T (p.Glu1294Ter) n.612-14844C>A c.3526G>T (p.Glu1176Ter) c.3169G>T (p.Glu1057Ter) | dbSNP gnomAD v4 |
2 | g.166233351C= | CA1304946686 | SCN1A-AS1,SCN9A | c.3913G= (p.Glu1305=) c.3769-4379G= (n.3769-4379G=) c.3880G= (p.Glu1294=) n.612-14844C= c.3526G= (p.Glu1176=) c.3169G= (p.Glu1057=) | |
2 | g.166233351C>G | CA349066314 | SCN1A-AS1,SCN9A | c.3913G>C (p.Glu1305Gln) c.3769-4379G>C (n.3769-4379G>C) c.3880G>C (p.Glu1294Gln) n.612-14844C>G c.3526G>C (p.Glu1176Gln) c.3169G>C (p.Glu1057Gln) | |
2 | g.166233351C>T | CA349066316 | SCN1A-AS1,SCN9A | c.3913G>A (p.Glu1305Lys) c.3769-4379G>A (n.3769-4379G>A) c.3880G>A (p.Glu1294Lys) n.612-14844C>T c.3526G>A (p.Glu1176Lys) c.3169G>A (p.Glu1057Lys) | ClinVar dbSNP |
2 | g.166233352A>C | CA349066318 | SCN1A-AS1,SCN9A | c.3912T>G (p.Phe1304Leu) c.3769-4380T>G (n.3769-4380T>G) c.3879T>G (p.Phe1293Leu) n.612-14843A>C c.3525T>G (p.Phe1175Leu) c.3168T>G (p.Phe1056Leu) | |
2 | g.166233352A>G | CA429900387 | SCN1A-AS1,SCN9A | c.3912T>C (p.Phe1304=) c.3769-4380T>C (n.3769-4380T>C) c.3879T>C (p.Phe1293=) n.612-14843A>G c.3525T>C (p.Phe1175=) c.3168T>C (p.Phe1056=) | gnomAD v4 |
2 | g.166233352A>T | CA349066320 | SCN1A-AS1,SCN9A | c.3912T>A (p.Phe1304Leu) c.3769-4380T>A (n.3769-4380T>A) c.3879T>A (p.Phe1293Leu) n.612-14843A>T c.3525T>A (p.Phe1175Leu) c.3168T>A (p.Phe1056Leu) | |
2 | g.166233353A>C | CA349066322 | SCN1A-AS1,SCN9A | c.3911T>G (p.Phe1304Cys) c.3769-4381T>G (n.3769-4381T>G) c.3878T>G (p.Phe1293Cys) n.612-14842A>C c.3524T>G (p.Phe1175Cys) c.3167T>G (p.Phe1056Cys) | |
2 | g.166233353A>G | CA349066324 | SCN1A-AS1,SCN9A | c.3911T>C (p.Phe1304Ser) c.3769-4381T>C (n.3769-4381T>C) c.3878T>C (p.Phe1293Ser) n.612-14842A>G c.3524T>C (p.Phe1175Ser) c.3167T>C (p.Phe1056Ser) | |
2 | g.166233353A>T | CA349066329 | SCN1A-AS1,SCN9A | c.3911T>A (p.Phe1304Tyr) c.3769-4381T>A (n.3769-4381T>A) c.3878T>A (p.Phe1293Tyr) n.612-14842A>T c.3524T>A (p.Phe1175Tyr) c.3167T>A (p.Phe1056Tyr) | |
2 | g.166233354A>C | CA349066333 | SCN1A-AS1,SCN9A | c.3910T>G (p.Phe1304Val) c.3769-4382T>G (n.3769-4382T>G) c.3877T>G (p.Phe1293Val) n.612-14841A>C c.3523T>G (p.Phe1175Val) c.3166T>G (p.Phe1056Val) | |
2 | g.166233354A>G | CA349066334 | SCN1A-AS1,SCN9A | c.3910T>C (p.Phe1304Leu) c.3769-4382T>C (n.3769-4382T>C) c.3877T>C (p.Phe1293Leu) n.612-14841A>G c.3523T>C (p.Phe1175Leu) c.3166T>C (p.Phe1056Leu) | |
2 | g.166233354A>T | CA349066336 | SCN1A-AS1,SCN9A | c.3910T>A (p.Phe1304Ile) c.3769-4382T>A (n.3769-4382T>A) c.3877T>A (p.Phe1293Ile) n.612-14841A>T c.3523T>A (p.Phe1175Ile) c.3166T>A (p.Phe1056Ile) | |
2 | g.166233355T>A | CA349066338 | SCN1A-AS1,SCN9A | c.3909A>T (p.Arg1303Ser) c.3769-4383A>T (n.3769-4383A>T) c.3876A>T (p.Arg1292Ser) n.612-14840T>A c.3522A>T (p.Arg1174Ser) c.3165A>T (p.Arg1055Ser) | |
2 | g.166233355T>C | CA429900397 | SCN1A-AS1,SCN9A | c.3909A>G (p.Arg1303=) c.3769-4383A>G (n.3769-4383A>G) c.3876A>G (p.Arg1292=) n.612-14840T>C c.3522A>G (p.Arg1174=) c.3165A>G (p.Arg1055=) | |
2 | g.166233355T>G | CA349066341 | SCN1A-AS1,SCN9A | c.3909A>C (p.Arg1303Ser) c.3769-4383A>C (n.3769-4383A>C) c.3876A>C (p.Arg1292Ser) n.612-14840T>G c.3522A>C (p.Arg1174Ser) c.3165A>C (p.Arg1055Ser) | |
2 | g.166233356C>A | CA349066345 | SCN1A-AS1,SCN9A | c.3908G>T (p.Arg1303Ile) c.3769-4384G>T (n.3769-4384G>T) c.3875G>T (p.Arg1292Ile) n.612-14839C>A c.3521G>T (p.Arg1174Ile) c.3164G>T (p.Arg1055Ile) | gnomAD v4 |
2 | g.166233356C>G | CA349066347 | SCN1A-AS1,SCN9A | c.3908G>C (p.Arg1303Thr) c.3769-4384G>C (n.3769-4384G>C) c.3875G>C (p.Arg1292Thr) n.612-14839C>G c.3521G>C (p.Arg1174Thr) c.3164G>C (p.Arg1055Thr) | |
2 | g.166233356C>T | CA349066342 | SCN1A-AS1,SCN9A | c.3908G>A (p.Arg1303Lys) c.3769-4384G>A (n.3769-4384G>A) c.3875G>A (p.Arg1292Lys) n.612-14839C>T c.3521G>A (p.Arg1174Lys) c.3164G>A (p.Arg1055Lys) | |
2 | g.166233357T>A | CA349066349 | SCN1A-AS1,SCN9A | c.3907A>T (p.Arg1303Ter) c.3769-4385A>T (n.3769-4385A>T) c.3874A>T (p.Arg1292Ter) n.612-14838T>A c.3520A>T (p.Arg1174Ter) c.3163A>T (p.Arg1055Ter) | dbSNP |
2 | g.166233357T>C | CA349066348 | SCN1A-AS1,SCN9A | c.3907A>G (p.Arg1303Gly) c.3769-4385A>G (n.3769-4385A>G) c.3874A>G (p.Arg1292Gly) n.612-14838T>C c.3520A>G (p.Arg1174Gly) c.3163A>G (p.Arg1055Gly) | gnomAD v4 |
2 | g.166233357T>G | CA429900404 | SCN1A-AS1,SCN9A | c.3907A>C (p.Arg1303=) c.3769-4385A>C (n.3769-4385A>C) c.3874A>C (p.Arg1292=) n.612-14838T>G c.3520A>C (p.Arg1174=) c.3163A>C (p.Arg1055=) | |
2 | g.166233357T= | CA1304946691 | SCN1A-AS1,SCN9A | c.3907A= (p.Arg1303=) c.3769-4385A= (n.3769-4385A=) c.3874A= (p.Arg1292=) n.612-14838T= c.3520A= (p.Arg1174=) c.3163A= (p.Arg1055=) | |
2 | g.166233358A>C | CA429900407 | SCN1A-AS1,SCN9A | c.3906T>G (p.Ser1302=) c.3769-4386T>G (n.3769-4386T>G) c.3873T>G (p.Ser1291=) n.612-14837A>C c.3519T>G (p.Ser1173=) c.3162T>G (p.Ser1054=) | |
2 | g.166233358A>G | CA429900414 | SCN1A-AS1,SCN9A | c.3906T>C (p.Ser1302=) c.3769-4386T>C (n.3769-4386T>C) c.3873T>C (p.Ser1291=) n.612-14837A>G c.3519T>C (p.Ser1173=) c.3162T>C (p.Ser1054=) | gnomAD v4 |
2 | g.166233358A>T | CA429900412 | SCN1A-AS1,SCN9A | c.3906T>A (p.Ser1302=) c.3769-4386T>A (n.3769-4386T>A) c.3873T>A (p.Ser1291=) n.612-14837A>T c.3519T>A (p.Ser1173=) c.3162T>A (p.Ser1054=) | |
2 | g.166233359_166233360del | CA2577144869 | SCN1A-AS1,SCN9A | c.3905_3906del (p.Ser1302Ter) c.3769-4387_3769-4386del (n.3769-4387_3769-4386del) c.3872_3873del (p.Ser1291Ter) n.612-14836_612-14835del c.3518_3519del (p.Ser1173Ter) c.3161_3162del (p.Ser1054Ter) | |
2 | g.166233359G>A | CA349066355 | SCN1A-AS1,SCN9A | c.3905C>T (p.Ser1302Phe) c.3769-4387C>T (n.3769-4387C>T) c.3872C>T (p.Ser1291Phe) n.612-14836G>A c.3518C>T (p.Ser1173Phe) c.3161C>T (p.Ser1054Phe) | |
2 | g.166233359G>C | CA349066352 | SCN1A-AS1,SCN9A | c.3905C>G (p.Ser1302Cys) c.3769-4387C>G (n.3769-4387C>G) c.3872C>G (p.Ser1291Cys) n.612-14836G>C c.3518C>G (p.Ser1173Cys) c.3161C>G (p.Ser1054Cys) | |
2 | g.166233359G>T | CA349066354 | SCN1A-AS1,SCN9A | c.3905C>A (p.Ser1302Tyr) c.3769-4387C>A (n.3769-4387C>A) c.3872C>A (p.Ser1291Tyr) n.612-14836G>T c.3518C>A (p.Ser1173Tyr) c.3161C>A (p.Ser1054Tyr) | gnomAD v4 |
2 | g.166233360A= | CA1304946694 | SCN1A-AS1,SCN9A | c.3904T= (p.Ser1302=) c.3769-4388T= (n.3769-4388T=) c.3871T= (p.Ser1291=) n.612-14835A= c.3517T= (p.Ser1173=) c.3160T= (p.Ser1054=) | |
2 | g.166233360A>C | CA349066357 | SCN1A-AS1,SCN9A | c.3904T>G (p.Ser1302Ala) c.3769-4388T>G (n.3769-4388T>G) c.3871T>G (p.Ser1291Ala) n.612-14835A>C c.3517T>G (p.Ser1173Ala) c.3160T>G (p.Ser1054Ala) | |
2 | g.166233360A>G | CA349066359 | SCN1A-AS1,SCN9A | c.3904T>C (p.Ser1302Pro) c.3769-4388T>C (n.3769-4388T>C) c.3871T>C (p.Ser1291Pro) n.612-14835A>G c.3517T>C (p.Ser1173Pro) c.3160T>C (p.Ser1054Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166233360A>T | CA349066361 | SCN1A-AS1,SCN9A | c.3904T>A (p.Ser1302Thr) c.3769-4388T>A (n.3769-4388T>A) c.3871T>A (p.Ser1291Thr) n.612-14835A>T c.3517T>A (p.Ser1173Thr) c.3160T>A (p.Ser1054Thr) | dbSNP |
2 | g.166233361T>A | CA349066363 | SCN1A-AS1,SCN9A | c.3903A>T (p.Leu1301Phe) c.3769-4389A>T (n.3769-4389A>T) c.3870A>T (p.Leu1290Phe) n.612-14834T>A c.3516A>T (p.Leu1172Phe) c.3159A>T (p.Leu1053Phe) | |
2 | g.166233361T>C | CA1943984 | SCN1A-AS1,SCN9A | c.3903A>G (p.Leu1301=) c.3769-4389A>G (n.3769-4389A>G) c.3870A>G (p.Leu1290=) n.612-14834T>C c.3516A>G (p.Leu1172=) c.3159A>G (p.Leu1053=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166233361T>G | CA349066367 | SCN1A-AS1,SCN9A | c.3903A>C (p.Leu1301Phe) c.3769-4389A>C (n.3769-4389A>C) c.3870A>C (p.Leu1290Phe) n.612-14834T>G c.3516A>C (p.Leu1172Phe) c.3159A>C (p.Leu1053Phe) | |
2 | g.166233361T= | CA1304946699 | SCN1A-AS1,SCN9A | c.3903A= (p.Leu1301=) c.3769-4389A= (n.3769-4389A=) c.3870A= (p.Leu1290=) n.612-14834T= c.3516A= (p.Leu1172=) c.3159A= (p.Leu1053=) | |
2 | g.166233362A>C | CA349066370 | SCN1A-AS1,SCN9A | c.3902T>G (p.Leu1301Ter) c.3769-4390T>G (n.3769-4390T>G) c.3869T>G (p.Leu1290Ter) n.612-14833A>C c.3515T>G (p.Leu1172Ter) c.3158T>G (p.Leu1053Ter) | |
2 | g.166233362A>G | CA349066372 | SCN1A-AS1,SCN9A | c.3902T>C (p.Leu1301Ser) c.3769-4390T>C (n.3769-4390T>C) c.3869T>C (p.Leu1290Ser) n.612-14833A>G c.3515T>C (p.Leu1172Ser) c.3158T>C (p.Leu1053Ser) | gnomAD v4 |
2 | g.166233362A>T | CA349066374 | SCN1A-AS1,SCN9A | c.3902T>A (p.Leu1301Ter) c.3769-4390T>A (n.3769-4390T>A) c.3869T>A (p.Leu1290Ter) n.612-14833A>T c.3515T>A (p.Leu1172Ter) c.3158T>A (p.Leu1053Ter) | |
2 | g.166233363A>C | CA349066376 | SCN1A-AS1,SCN9A | c.3901T>G (p.Leu1301Val) c.3769-4391T>G (n.3769-4391T>G) c.3868T>G (p.Leu1290Val) n.612-14832A>C c.3514T>G (p.Leu1172Val) c.3157T>G (p.Leu1053Val) | |
2 | g.166233363A>G | CA429900423 | SCN1A-AS1,SCN9A | c.3901T>C (p.Leu1301=) c.3769-4391T>C (n.3769-4391T>C) c.3868T>C (p.Leu1290=) n.612-14832A>G c.3514T>C (p.Leu1172=) c.3157T>C (p.Leu1053=) | |
2 | g.166233363A>T | CA349066378 | SCN1A-AS1,SCN9A | c.3901T>A (p.Leu1301Ile) c.3769-4391T>A (n.3769-4391T>A) c.3868T>A (p.Leu1290Ile) n.612-14832A>T c.3514T>A (p.Leu1172Ile) c.3157T>A (p.Leu1053Ile) | |
2 | g.166233364G>A | CA429900425 | SCN1A-AS1,SCN9A | c.3900C>T (p.Ala1300=) c.3769-4392C>T (n.3769-4392C>T) c.3867C>T (p.Ala1289=) n.612-14831G>A c.3513C>T (p.Ala1171=) c.3156C>T (p.Ala1052=) | |
2 | g.166233364G>C | CA429900427 | SCN1A-AS1,SCN9A | c.3900C>G (p.Ala1300=) c.3769-4392C>G (n.3769-4392C>G) c.3867C>G (p.Ala1289=) n.612-14831G>C c.3513C>G (p.Ala1171=) c.3156C>G (p.Ala1052=) | |
2 | g.166233364G>T | CA429900428 | SCN1A-AS1,SCN9A | c.3900C>A (p.Ala1300=) c.3769-4392C>A (n.3769-4392C>A) c.3867C>A (p.Ala1289=) n.612-14831G>T c.3513C>A (p.Ala1171=) c.3156C>A (p.Ala1052=) | gnomAD v4 |
2 | g.166233365G>A | CA349066383 | SCN1A-AS1,SCN9A | c.3899C>T (p.Ala1300Val) c.3769-4393C>T (n.3769-4393C>T) c.3866C>T (p.Ala1289Val) n.612-14830G>A c.3512C>T (p.Ala1171Val) c.3155C>T (p.Ala1052Val) | gnomAD v4 |
2 | g.166233365G>C | CA349066381 | SCN1A-AS1,SCN9A | c.3899C>G (p.Ala1300Gly) c.3769-4393C>G (n.3769-4393C>G) c.3866C>G (p.Ala1289Gly) n.612-14830G>C c.3512C>G (p.Ala1171Gly) c.3155C>G (p.Ala1052Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166233365G= | CA1304946703 | SCN1A-AS1,SCN9A | c.3899C= (p.Ala1300=) c.3769-4393C= (n.3769-4393C=) c.3866C= (p.Ala1289=) n.612-14830G= c.3512C= (p.Ala1171=) c.3155C= (p.Ala1052=) | |
2 | g.166233365G>T | CA349066382 | SCN1A-AS1,SCN9A | c.3899C>A (p.Ala1300Asp) c.3769-4393C>A (n.3769-4393C>A) c.3866C>A (p.Ala1289Asp) n.612-14830G>T c.3512C>A (p.Ala1171Asp) c.3155C>A (p.Ala1052Asp) | gnomAD v4 |
2 | g.166233366C>A | CA349066385 | SCN1A-AS1,SCN9A | c.3898G>T (p.Ala1300Ser) c.3769-4394G>T (n.3769-4394G>T) c.3865G>T (p.Ala1289Ser) n.612-14829C>A c.3511G>T (p.Ala1171Ser) c.3154G>T (p.Ala1052Ser) | gnomAD v4 |
2 | g.166233366C= | CA1304946707 | SCN1A-AS1,SCN9A | c.3898G= (p.Ala1300=) c.3769-4394G= (n.3769-4394G=) c.3865G= (p.Ala1289=) n.612-14829C= c.3511G= (p.Ala1171=) c.3154G= (p.Ala1052=) | |
2 | g.166233366C>G | CA349066387 | SCN1A-AS1,SCN9A | c.3898G>C (p.Ala1300Pro) c.3769-4394G>C (n.3769-4394G>C) c.3865G>C (p.Ala1289Pro) n.612-14829C>G c.3511G>C (p.Ala1171Pro) c.3154G>C (p.Ala1052Pro) | |
2 | g.166233366C>T | CA349066388 | SCN1A-AS1,SCN9A | c.3898G>A (p.Ala1300Thr) c.3769-4394G>A (n.3769-4394G>A) c.3865G>A (p.Ala1289Thr) n.612-14829C>T c.3511G>A (p.Ala1171Thr) c.3154G>A (p.Ala1052Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.166233368_166233369del | CA2661765695 | SCN1A-AS1,SCN9A | c.3897_3898del (p.Arg1299SerfsTer4) c.3769-4395_3769-4394del (n.3769-4395_3769-4394del) c.3864_3865del (p.Arg1288SerfsTer4) n.612-14827_612-14826del c.3510_3511del (p.Arg1170SerfsTer4) c.3153_3154del (p.Arg1051SerfsTer4) | gnomAD v4 |
2 | g.166233367T>A | CA349066390 | SCN1A-AS1,SCN9A | c.3897A>T (p.Arg1299Ser) c.3769-4395A>T (n.3769-4395A>T) c.3864A>T (p.Arg1288Ser) n.612-14828T>A c.3510A>T (p.Arg1170Ser) c.3153A>T (p.Arg1051Ser) | |
2 | g.166233367T>C | CA429900436 | SCN1A-AS1,SCN9A | c.3897A>G (p.Arg1299=) c.3769-4395A>G (n.3769-4395A>G) c.3864A>G (p.Arg1288=) n.612-14828T>C c.3510A>G (p.Arg1170=) c.3153A>G (p.Arg1051=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166233367T>G | CA349066392 | SCN1A-AS1,SCN9A | c.3897A>C (p.Arg1299Ser) c.3769-4395A>C (n.3769-4395A>C) c.3864A>C (p.Arg1288Ser) n.612-14828T>G c.3510A>C (p.Arg1170Ser) c.3153A>C (p.Arg1051Ser) | |
2 | g.166233367T= | CA1304946712 | SCN1A-AS1,SCN9A | c.3897A= (p.Arg1299=) c.3769-4395A= (n.3769-4395A=) c.3864A= (p.Arg1288=) n.612-14828T= c.3510A= (p.Arg1170=) c.3153A= (p.Arg1051=) | |
2 | g.166233368C>A | CA349066394 | SCN1A-AS1,SCN9A | c.3896G>T (p.Arg1299Ile) c.3769-4396G>T (n.3769-4396G>T) c.3863G>T (p.Arg1288Ile) n.612-14827C>A c.3509G>T (p.Arg1170Ile) c.3152G>T (p.Arg1051Ile) | |
2 | g.166233368C= | CA1304946715 | SCN1A-AS1,SCN9A | c.3896G= (p.Arg1299=) c.3769-4396G= (n.3769-4396G=) c.3863G= (p.Arg1288=) n.612-14827C= c.3509G= (p.Arg1170=) c.3152G= (p.Arg1051=) | |
2 | g.166233368C>G | CA349066396 | SCN1A-AS1,SCN9A | c.3896G>C (p.Arg1299Thr) c.3769-4396G>C (n.3769-4396G>C) c.3863G>C (p.Arg1288Thr) n.612-14827C>G c.3509G>C (p.Arg1170Thr) c.3152G>C (p.Arg1051Thr) | |
2 | g.166233368C>T | CA1943985 | SCN1A-AS1,SCN9A | c.3896G>A (p.Arg1299Lys) c.3769-4396G>A (n.3769-4396G>A) c.3863G>A (p.Arg1288Lys) n.612-14827C>T c.3509G>A (p.Arg1170Lys) c.3152G>A (p.Arg1051Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166233369T>A | CA349066398 | SCN1A-AS1,SCN9A | c.3895A>T (p.Arg1299Ter) c.3769-4397A>T (n.3769-4397A>T) c.3862A>T (p.Arg1288Ter) n.612-14826T>A c.3508A>T (p.Arg1170Ter) c.3151A>T (p.Arg1051Ter) | dbSNP |
2 | g.166233369T>C | CA349066399 | SCN1A-AS1,SCN9A | c.3895A>G (p.Arg1299Gly) c.3769-4397A>G (n.3769-4397A>G) c.3862A>G (p.Arg1288Gly) n.612-14826T>C c.3508A>G (p.Arg1170Gly) c.3151A>G (p.Arg1051Gly) | ClinVar dbSNP |
2 | g.166233369T>G | CA429900444 | SCN1A-AS1,SCN9A | c.3895A>C (p.Arg1299=) c.3769-4397A>C (n.3769-4397A>C) c.3862A>C (p.Arg1288=) n.612-14826T>G c.3508A>C (p.Arg1170=) c.3151A>C (p.Arg1051=) | |
2 | g.166233369T= | CA1304946724 | SCN1A-AS1,SCN9A | c.3895A= (p.Arg1299=) c.3769-4397A= (n.3769-4397A=) c.3862A= (p.Arg1288=) n.612-14826T= c.3508A= (p.Arg1170=) c.3151A= (p.Arg1051=) | |
2 | g.166233370del | CA2661765696 | SCN1A-AS1,SCN9A | c.3895del (p.Arg1299GlufsTer9) c.3769-4397del (n.3769-4397del) c.3862del (p.Arg1288GlufsTer9) n.612-14825del c.3508del (p.Arg1170GlufsTer9) c.3151del (p.Arg1051GlufsTer9) | gnomAD v4 |
2 | g.166233370T>A | CA429900446 | SCN1A-AS1,SCN9A | c.3894A>T (p.Leu1298=) c.3769-4398A>T (n.3769-4398A>T) c.3861A>T (p.Leu1287=) n.612-14825T>A c.3507A>T (p.Leu1169=) c.3150A>T (p.Leu1050=) | dbSNP gnomAD v4 |
2 | g.166233370T>C | CA1943986 | SCN1A-AS1,SCN9A | c.3894A>G (p.Leu1298=) c.3769-4398A>G (n.3769-4398A>G) c.3861A>G (p.Leu1287=) n.612-14825T>C c.3507A>G (p.Leu1169=) c.3150A>G (p.Leu1050=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166233370T>G | CA429900448 | SCN1A-AS1,SCN9A | c.3894A>C (p.Leu1298=) c.3769-4398A>C (n.3769-4398A>C) c.3861A>C (p.Leu1287=) n.612-14825T>G c.3507A>C (p.Leu1169=) c.3150A>C (p.Leu1050=) | |
2 | g.166233370T= | CA1304946729 | SCN1A-AS1,SCN9A | c.3894A= (p.Leu1298=) c.3769-4398A= (n.3769-4398A=) c.3861A= (p.Leu1287=) n.612-14825T= c.3507A= (p.Leu1169=) c.3150A= (p.Leu1050=) | |
2 | g.166233371A>C | CA349066402 | SCN1A-AS1,SCN9A | c.3893T>G (p.Leu1298Arg) c.3769-4399T>G (n.3769-4399T>G) c.3860T>G (p.Leu1287Arg) n.612-14824A>C c.3506T>G (p.Leu1169Arg) c.3149T>G (p.Leu1050Arg) | |
2 | g.166233371A>G | CA349066401 | SCN1A-AS1,SCN9A | c.3893T>C (p.Leu1298Pro) c.3769-4399T>C (n.3769-4399T>C) c.3860T>C (p.Leu1287Pro) n.612-14824A>G c.3506T>C (p.Leu1169Pro) c.3149T>C (p.Leu1050Pro) | |
2 | g.166233371A>T | CA349066400 | SCN1A-AS1,SCN9A | c.3893T>A (p.Leu1298Gln) c.3769-4399T>A (n.3769-4399T>A) c.3860T>A (p.Leu1287Gln) n.612-14824A>T c.3506T>A (p.Leu1169Gln) c.3149T>A (p.Leu1050Gln) | |
2 | g.166233373_166233374del | CA2753023772 | SCN1A-AS1,SCN9A | c.3892_3893del (p.Leu1298LysfsTer5) c.3769-4400_3769-4399del (n.3769-4400_3769-4399del) c.3859_3860del (p.Leu1287LysfsTer5) n.612-14822_612-14821del c.3505_3506del (p.Leu1169LysfsTer5) c.3148_3149del (p.Leu1050LysfsTer5) | |
2 | g.166233372G>A | CA429900454 | SCN1A-AS1,SCN9A | c.3892C>T (p.Leu1298=) c.3769-4400C>T (n.3769-4400C>T) c.3859C>T (p.Leu1287=) n.612-14823G>A c.3505C>T (p.Leu1169=) c.3148C>T (p.Leu1050=) | gnomAD v4 |
2 | g.166233372G>C | CA349066403 | SCN1A-AS1,SCN9A | c.3892C>G (p.Leu1298Val) c.3769-4400C>G (n.3769-4400C>G) c.3859C>G (p.Leu1287Val) n.612-14823G>C c.3505C>G (p.Leu1169Val) c.3148C>G (p.Leu1050Val) | gnomAD v4 |
2 | g.166233372G>T | CA349066404 | SCN1A-AS1,SCN9A | c.3892C>A (p.Leu1298Ile) c.3769-4400C>A (n.3769-4400C>A) c.3859C>A (p.Leu1287Ile) n.612-14823G>T c.3505C>A (p.Leu1169Ile) c.3148C>A (p.Leu1050Ile) | |
2 | g.166233373A>C | CA429900458 | SCN1A-AS1,SCN9A | c.3891T>G (p.Pro1297=) c.3769-4401T>G (n.3769-4401T>G) c.3858T>G (p.Pro1286=) n.612-14822A>C c.3504T>G (p.Pro1168=) c.3147T>G (p.Pro1049=) | gnomAD v4 |
2 | g.166233373A>G | CA429900460 | SCN1A-AS1,SCN9A | c.3891T>C (p.Pro1297=) c.3769-4401T>C (n.3769-4401T>C) c.3858T>C (p.Pro1286=) n.612-14822A>G c.3504T>C (p.Pro1168=) c.3147T>C (p.Pro1049=) | gnomAD v4 |
2 | g.166233373A>T | CA429900461 | SCN1A-AS1,SCN9A | c.3891T>A (p.Pro1297=) c.3769-4401T>A (n.3769-4401T>A) c.3858T>A (p.Pro1286=) n.612-14822A>T c.3504T>A (p.Pro1168=) c.3147T>A (p.Pro1049=) | |
2 | g.166233374G>A | CA349066405 | SCN1A-AS1,SCN9A | c.3890C>T (p.Pro1297Leu) c.3769-4402C>T (n.3769-4402C>T) c.3857C>T (p.Pro1286Leu) n.612-14821G>A c.3503C>T (p.Pro1168Leu) c.3146C>T (p.Pro1049Leu) | gnomAD v4 |
2 | g.166233374G>C | CA349066406 | SCN1A-AS1,SCN9A | c.3890C>G (p.Pro1297Arg) c.3769-4402C>G (n.3769-4402C>G) c.3857C>G (p.Pro1286Arg) n.612-14821G>C c.3503C>G (p.Pro1168Arg) c.3146C>G (p.Pro1049Arg) | |
2 | g.166233374G>T | CA349066407 | SCN1A-AS1,SCN9A | c.3890C>A (p.Pro1297His) c.3769-4402C>A (n.3769-4402C>A) c.3857C>A (p.Pro1286His) n.612-14821G>T c.3503C>A (p.Pro1168His) c.3146C>A (p.Pro1049His) | |
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 |
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 |