Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166238070_166238099delinsTAAAATGTACTCAAAAGTACCTACATCAAC | CA1304949932 | SCN1A-AS1,SCN9A | c.3796_3801+24delinsGTTGATGTAGGTACTTTTGAGTACATTTTA c.3763_3768+24delinsGTTGATGTAGGTACTTTTGAGTACATTTTA n.612-10125_612-10096delinsTAAAATGTACTCAAAAGTACCTACATCAAC c.3409_3414+24delinsGTTGATGTAGGTACTTTTGAGTACATTTTA c.3052_3057+24delinsGTTGATGTAGGTACTTTTGAGTACATTTTA | |
2 | g.166238073_166238101del | CA760189611 | SCN1A-AS1,SCN9A | c.3796_3801+23del c.3763_3768+23del n.612-10122_612-10094del c.3409_3414+23del c.3052_3057+23del | ClinVar dbSNP gnomAD v4 |
2 | g.166238082A= | CA1304949939 | SCN1A-AS1,SCN9A | c.3801+12T= (n.3801+12T=) c.3768+12T= (n.3768+12T=) n.612-10113A= c.3414+12T= (n.3414+12T=) c.3057+12T= (n.3057+12T=) | |
2 | g.166238082A>G | CA429900686 | SCN1A-AS1,SCN9A | c.3801+12T>C (n.3801+12T>C) c.3768+12T>C (n.3768+12T>C) n.612-10113A>G c.3414+12T>C (n.3414+12T>C) c.3057+12T>C (n.3057+12T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166238082A>T | CA537511789 | SCN1A-AS1,SCN9A | c.3801+12T>A (n.3801+12T>A) c.3768+12T>A (n.3768+12T>A) n.612-10113A>T c.3414+12T>A (n.3414+12T>A) c.3057+12T>A (n.3057+12T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166238085del | CA2661765911 | SCN1A-AS1,SCN9A | c.3801+12del (n.3801+12del) c.3768+12del (n.3768+12del) n.612-10110del c.3414+12del (n.3414+12del) c.3057+12del (n.3057+12del) | gnomAD v4 |
2 | g.166238083A>C | CA2701011316 | SCN1A-AS1,SCN9A | c.3801+11T>G (n.3801+11T>G) c.3768+11T>G (n.3768+11T>G) n.612-10112A>C c.3414+11T>G (n.3414+11T>G) c.3057+11T>G (n.3057+11T>G) | dbSNP |
2 | g.166238083A>G | CA2661765912 | SCN1A-AS1,SCN9A | c.3801+11T>C (n.3801+11T>C) c.3768+11T>C (n.3768+11T>C) n.612-10112A>G c.3414+11T>C (n.3414+11T>C) c.3057+11T>C (n.3057+11T>C) | gnomAD v4 |
2 | g.166238084A>G | CA2661765913 | SCN1A-AS1,SCN9A | c.3801+10T>C (n.3801+10T>C) c.3768+10T>C (n.3768+10T>C) n.612-10111A>G c.3414+10T>C (n.3414+10T>C) c.3057+10T>C (n.3057+10T>C) | gnomAD v4 |
2 | g.166238085A>G | CA2577144884 | SCN1A-AS1,SCN9A | c.3801+9T>C (n.3801+9T>C) c.3768+9T>C (n.3768+9T>C) n.612-10110A>G c.3414+9T>C (n.3414+9T>C) c.3057+9T>C (n.3057+9T>C) | |
2 | g.166238086G>A | CA2580064313 | SCN1A-AS1,SCN9A | c.3801+8C>T (n.3801+8C>T) c.3768+8C>T (n.3768+8C>T) n.612-10109G>A c.3414+8C>T (n.3414+8C>T) c.3057+8C>T (n.3057+8C>T) | ClinVar |
2 | g.166238087T>A | CA537513835 | SCN1A-AS1,SCN9A | c.3801+7A>T (n.3801+7A>T) c.3768+7A>T (n.3768+7A>T) n.612-10108T>A c.3414+7A>T (n.3414+7A>T) c.3057+7A>T (n.3057+7A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166238087T>C | CA537513837 | SCN1A-AS1,SCN9A | c.3801+7A>G (n.3801+7A>G) c.3768+7A>G (n.3768+7A>G) n.612-10108T>C c.3414+7A>G (n.3414+7A>G) c.3057+7A>G (n.3057+7A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166238087T= | CA1304949940 | SCN1A-AS1,SCN9A | c.3801+7A= (n.3801+7A=) c.3768+7A= (n.3768+7A=) n.612-10108T= c.3414+7A= (n.3414+7A=) c.3057+7A= (n.3057+7A=) | |
2 | g.166238088A>T | CA2661765914 | SCN1A-AS1,SCN9A | c.3801+6T>A (n.3801+6T>A) c.3768+6T>A (n.3768+6T>A) n.612-10107A>T c.3414+6T>A (n.3414+6T>A) c.3057+6T>A (n.3057+6T>A) | gnomAD v4 |
2 | g.166238089C>T | CA2661765915 | SCN1A-AS1,SCN9A | c.3801+5G>A (n.3801+5G>A) c.3768+5G>A (n.3768+5G>A) n.612-10106C>T c.3414+5G>A (n.3414+5G>A) c.3057+5G>A (n.3057+5G>A) | gnomAD v4 |
2 | g.166238090C>A | CA2661765916 | SCN1A-AS1,SCN9A | c.3801+4G>T (n.3801+4G>T) c.3768+4G>T (n.3768+4G>T) n.612-10105C>A c.3414+4G>T (n.3414+4G>T) c.3057+4G>T (n.3057+4G>T) | gnomAD v4 |
2 | g.166238090C>G | CA2661765917 | SCN1A-AS1,SCN9A | c.3801+4G>C (n.3801+4G>C) c.3768+4G>C (n.3768+4G>C) n.612-10105C>G c.3414+4G>C (n.3414+4G>C) c.3057+4G>C (n.3057+4G>C) | gnomAD v4 |
2 | g.166238090C>T | CA2577144885 | SCN1A-AS1,SCN9A | c.3801+4G>A (n.3801+4G>A) c.3768+4G>A (n.3768+4G>A) n.612-10105C>T c.3414+4G>A (n.3414+4G>A) c.3057+4G>A (n.3057+4G>A) | gnomAD v4 |
2 | g.166238091T>C | CA2701011337 | SCN1A-AS1,SCN9A | c.3801+3A>G (n.3801+3A>G) c.3768+3A>G (n.3768+3A>G) n.612-10104T>C c.3414+3A>G (n.3414+3A>G) c.3057+3A>G (n.3057+3A>G) | dbSNP |
2 | g.166238092A>C | CA349068355 | SCN1A-AS1,SCN9A | c.3801+2T>G (n.3801+2T>G) c.3768+2T>G (n.3768+2T>G) n.612-10103A>C c.3414+2T>G (n.3414+2T>G) c.3057+2T>G (n.3057+2T>G) | |
2 | g.166238092A>G | CA349068357 | SCN1A-AS1,SCN9A | c.3801+2T>C (n.3801+2T>C) c.3768+2T>C (n.3768+2T>C) n.612-10103A>G c.3414+2T>C (n.3414+2T>C) c.3057+2T>C (n.3057+2T>C) | gnomAD v4 |
2 | g.166238092A>T | CA349068353 | SCN1A-AS1,SCN9A | c.3801+2T>A (n.3801+2T>A) c.3768+2T>A (n.3768+2T>A) n.612-10103A>T c.3414+2T>A (n.3414+2T>A) c.3057+2T>A (n.3057+2T>A) | |
2 | g.166238093C>A | CA349068359 | SCN1A-AS1,SCN9A | c.3801+1G>T (n.3801+1G>T) c.3768+1G>T (n.3768+1G>T) n.612-10102C>A c.3414+1G>T (n.3414+1G>T) c.3057+1G>T (n.3057+1G>T) | |
2 | g.166238093C>G | CA349068360 | SCN1A-AS1,SCN9A | c.3801+1G>C (n.3801+1G>C) c.3768+1G>C (n.3768+1G>C) n.612-10102C>G c.3414+1G>C (n.3414+1G>C) c.3057+1G>C (n.3057+1G>C) | |
2 | g.166238093C>T | CA349068362 | SCN1A-AS1,SCN9A | c.3801+1G>A (n.3801+1G>A) c.3768+1G>A (n.3768+1G>A) n.612-10102C>T c.3414+1G>A (n.3414+1G>A) c.3057+1G>A (n.3057+1G>A) | ClinVar dbSNP |
2 | g.166238094A= | CA1304949941 | SCN1A-AS1,SCN9A | c.3801T= (p.Asp1267=) c.3768T= (p.Asp1256=) n.612-10101A= c.3414T= (p.Asp1138=) c.3057T= (p.Asp1019=) | |
2 | g.166238094A>C | CA349068364 | SCN1A-AS1,SCN9A | c.3801T>G (p.Asp1267Glu) c.3768T>G (p.Asp1256Glu) n.612-10101A>C c.3414T>G (p.Asp1138Glu) c.3057T>G (p.Asp1019Glu) | |
2 | g.166238094A>G | CA1944009 | SCN1A-AS1,SCN9A | c.3801T>C (p.Asp1267=) c.3768T>C (p.Asp1256=) n.612-10101A>G c.3414T>C (p.Asp1138=) c.3057T>C (p.Asp1019=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166238094A>T | CA349068366 | SCN1A-AS1,SCN9A | c.3801T>A (p.Asp1267Glu) c.3768T>A (p.Asp1256Glu) n.612-10101A>T c.3414T>A (p.Asp1138Glu) c.3057T>A (p.Asp1019Glu) | |
2 | g.166238095T>A | CA349068367 | SCN1A-AS1,SCN9A | c.3800A>T (p.Asp1267Val) c.3767A>T (p.Asp1256Val) n.612-10100T>A c.3413A>T (p.Asp1138Val) c.3056A>T (p.Asp1019Val) | |
2 | g.166238095T>C | CA349068369 | SCN1A-AS1,SCN9A | c.3800A>G (p.Asp1267Gly) c.3767A>G (p.Asp1256Gly) n.612-10100T>C c.3413A>G (p.Asp1138Gly) c.3056A>G (p.Asp1019Gly) | |
2 | g.166238095T>G | CA59813646 | SCN1A-AS1,SCN9A | c.3800A>C (p.Asp1267Ala) c.3767A>C (p.Asp1256Ala) n.612-10100T>G c.3413A>C (p.Asp1138Ala) c.3056A>C (p.Asp1019Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.166238095T= | CA1304949942 | SCN1A-AS1,SCN9A | c.3800A= (p.Asp1267=) c.3767A= (p.Asp1256=) n.612-10100T= c.3413A= (p.Asp1138=) c.3056A= (p.Asp1019=) | |
2 | g.166238096C>A | CA349068371 | SCN1A-AS1,SCN9A | c.3799G>T (p.Asp1267Tyr) c.3766G>T (p.Asp1256Tyr) n.612-10099C>A c.3412G>T (p.Asp1138Tyr) c.3055G>T (p.Asp1019Tyr) | gnomAD v4 |
2 | g.166238096C= | CA1304949943 | SCN1A-AS1,SCN9A | c.3799G= (p.Asp1267=) c.3766G= (p.Asp1256=) n.612-10099C= c.3412G= (p.Asp1138=) c.3055G= (p.Asp1019=) | |
2 | g.166238096C>G | CA349068373 | SCN1A-AS1,SCN9A | c.3799G>C (p.Asp1267His) c.3766G>C (p.Asp1256His) n.612-10099C>G c.3412G>C (p.Asp1138His) c.3055G>C (p.Asp1019His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166238096C>T | CA349068374 | SCN1A-AS1,SCN9A | c.3799G>A (p.Asp1267Asn) c.3766G>A (p.Asp1256Asn) n.612-10099C>T c.3412G>A (p.Asp1138Asn) c.3055G>A (p.Asp1019Asn) | gnomAD v4 |
2 | g.166238097A>C | CA429900689 | SCN1A-AS1,SCN9A | c.3798T>G (p.Val1266=) c.3765T>G (p.Val1255=) n.612-10098A>C c.3411T>G (p.Val1137=) c.3054T>G (p.Val1018=) | gnomAD v4 |
2 | g.166238097A>G | CA429900688 | SCN1A-AS1,SCN9A | c.3798T>C (p.Val1266=) c.3765T>C (p.Val1255=) n.612-10098A>G c.3411T>C (p.Val1137=) c.3054T>C (p.Val1018=) | |
2 | g.166238097A>T | CA429900687 | SCN1A-AS1,SCN9A | c.3798T>A (p.Val1266=) c.3765T>A (p.Val1255=) n.612-10098A>T c.3411T>A (p.Val1137=) c.3054T>A (p.Val1018=) | |
2 | g.166238098A>C | CA349068376 | SCN1A-AS1,SCN9A | c.3797T>G (p.Val1266Gly) c.3764T>G (p.Val1255Gly) n.612-10097A>C c.3410T>G (p.Val1137Gly) c.3053T>G (p.Val1018Gly) | |
2 | g.166238098A>G | CA349068377 | SCN1A-AS1,SCN9A | c.3797T>C (p.Val1266Ala) c.3764T>C (p.Val1255Ala) n.612-10097A>G c.3410T>C (p.Val1137Ala) c.3053T>C (p.Val1018Ala) | gnomAD v4 |
2 | g.166238098A>T | CA349068375 | SCN1A-AS1,SCN9A | c.3797T>A (p.Val1266Asp) c.3764T>A (p.Val1255Asp) n.612-10097A>T c.3410T>A (p.Val1137Asp) c.3053T>A (p.Val1018Asp) | |
2 | g.166238099C>A | CA349068379 | SCN1A-AS1,SCN9A | c.3796G>T (p.Val1266Phe) c.3763G>T (p.Val1255Phe) n.612-10096C>A c.3409G>T (p.Val1137Phe) c.3052G>T (p.Val1018Phe) | gnomAD v4 |
2 | g.166238099C>G | CA349068381 | SCN1A-AS1,SCN9A | c.3796G>C (p.Val1266Leu) c.3763G>C (p.Val1255Leu) n.612-10096C>G c.3409G>C (p.Val1137Leu) c.3052G>C (p.Val1018Leu) | |
2 | g.166238099C>T | CA349068382 | SCN1A-AS1,SCN9A | c.3796G>A (p.Val1266Ile) c.3763G>A (p.Val1255Ile) n.612-10096C>T c.3409G>A (p.Val1137Ile) c.3052G>A (p.Val1018Ile) | ClinVar |
2 | g.166238100A= | CA1304949944 | SCN1A-AS1,SCN9A | c.3795T= (p.Ile1265=) c.3762T= (p.Ile1254=) n.612-10095A= c.3408T= (p.Ile1136=) c.3051T= (p.Ile1017=) | |
2 | g.166238100A>C | CA349068383 | SCN1A-AS1,SCN9A | c.3795T>G (p.Ile1265Met) c.3762T>G (p.Ile1254Met) n.612-10095A>C c.3408T>G (p.Ile1136Met) c.3051T>G (p.Ile1017Met) | |
2 | g.166238100A>G | CA429900690 | SCN1A-AS1,SCN9A | c.3795T>C (p.Ile1265=) c.3762T>C (p.Ile1254=) n.612-10095A>G c.3408T>C (p.Ile1136=) c.3051T>C (p.Ile1017=) | |
2 | g.166238100A>T | CA1944010 | SCN1A-AS1,SCN9A | c.3795T>A (p.Ile1265=) c.3762T>A (p.Ile1254=) n.612-10095A>T c.3408T>A (p.Ile1136=) c.3051T>A (p.Ile1017=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166238101A>C | CA349068390 | SCN1A-AS1,SCN9A | c.3794T>G (p.Ile1265Ser) c.3761T>G (p.Ile1254Ser) n.612-10094A>C c.3407T>G (p.Ile1136Ser) c.3050T>G (p.Ile1017Ser) | |
2 | g.166238101A>G | CA349068387 | SCN1A-AS1,SCN9A | c.3794T>C (p.Ile1265Thr) c.3761T>C (p.Ile1254Thr) n.612-10094A>G c.3407T>C (p.Ile1136Thr) c.3050T>C (p.Ile1017Thr) | |
2 | g.166238101A>T | CA349068388 | SCN1A-AS1,SCN9A | c.3794T>A (p.Ile1265Asn) c.3761T>A (p.Ile1254Asn) n.612-10094A>T c.3407T>A (p.Ile1136Asn) c.3050T>A (p.Ile1017Asn) | |
2 | g.166238102T>A | CA349068392 | SCN1A-AS1,SCN9A | c.3793A>T (p.Ile1265Phe) c.3760A>T (p.Ile1254Phe) n.612-10093T>A c.3406A>T (p.Ile1136Phe) c.3049A>T (p.Ile1017Phe) | |
2 | g.166238102T>C | CA349068393 | SCN1A-AS1,SCN9A | c.3793A>G (p.Ile1265Val) c.3760A>G (p.Ile1254Val) n.612-10093T>C c.3406A>G (p.Ile1136Val) c.3049A>G (p.Ile1017Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166238102T>G | CA349068394 | SCN1A-AS1,SCN9A | c.3793A>C (p.Ile1265Leu) c.3760A>C (p.Ile1254Leu) n.612-10093T>G c.3406A>C (p.Ile1136Leu) c.3049A>C (p.Ile1017Leu) | |
2 | g.166238102T= | CA1304949945 | SCN1A-AS1,SCN9A | c.3793A= (p.Ile1265=) c.3760A= (p.Ile1254=) n.612-10093T= c.3406A= (p.Ile1136=) c.3049A= (p.Ile1017=) | |
2 | g.166238103T>A | CA429900692 | SCN1A-AS1,SCN9A | c.3792A>T (p.Leu1264=) c.3759A>T (p.Leu1253=) n.612-10092T>A c.3405A>T (p.Leu1135=) c.3048A>T (p.Leu1016=) | |
2 | g.166238103T>C | CA429900694 | SCN1A-AS1,SCN9A | c.3792A>G (p.Leu1264=) c.3759A>G (p.Leu1253=) n.612-10092T>C c.3405A>G (p.Leu1135=) c.3048A>G (p.Leu1016=) | |
2 | g.166238103T>G | CA429900693 | SCN1A-AS1,SCN9A | c.3792A>C (p.Leu1264=) c.3759A>C (p.Leu1253=) n.612-10092T>G c.3405A>C (p.Leu1135=) c.3048A>C (p.Leu1016=) | |
2 | g.166238104A>C | CA349068395 | SCN1A-AS1,SCN9A | c.3791T>G (p.Leu1264Arg) c.3758T>G (p.Leu1253Arg) n.612-10091A>C c.3404T>G (p.Leu1135Arg) c.3047T>G (p.Leu1016Arg) | |
2 | g.166238104A>G | CA349068397 | SCN1A-AS1,SCN9A | c.3791T>C (p.Leu1264Pro) c.3758T>C (p.Leu1253Pro) n.612-10091A>G c.3404T>C (p.Leu1135Pro) c.3047T>C (p.Leu1016Pro) | gnomAD v4 |
2 | g.166238104A>T | CA349068399 | SCN1A-AS1,SCN9A | c.3791T>A (p.Leu1264Gln) c.3758T>A (p.Leu1253Gln) n.612-10091A>T c.3404T>A (p.Leu1135Gln) c.3047T>A (p.Leu1016Gln) | |
2 | g.166238105G>A | CA429900695 | SCN1A-AS1,SCN9A | c.3790C>T (p.Leu1264=) c.3757C>T (p.Leu1253=) n.612-10090G>A c.3403C>T (p.Leu1135=) c.3046C>T (p.Leu1016=) | |
2 | g.166238105G>C | CA349068401 | SCN1A-AS1,SCN9A | c.3790C>G (p.Leu1264Val) c.3757C>G (p.Leu1253Val) n.612-10090G>C c.3403C>G (p.Leu1135Val) c.3046C>G (p.Leu1016Val) | |
2 | g.166238105G>T | CA349068400 | SCN1A-AS1,SCN9A | c.3790C>A (p.Leu1264Ile) c.3757C>A (p.Leu1253Ile) n.612-10090G>T c.3403C>A (p.Leu1135Ile) c.3046C>A (p.Leu1016Ile) | |
2 | g.166238106G>A | CA429900696 | SCN1A-AS1,SCN9A | c.3789C>T (p.Phe1263=) c.3756C>T (p.Phe1252=) n.612-10089G>A c.3402C>T (p.Phe1134=) c.3045C>T (p.Phe1015=) | |
2 | g.166238106G>C | CA349068403 | SCN1A-AS1,SCN9A | c.3789C>G (p.Phe1263Leu) c.3756C>G (p.Phe1252Leu) n.612-10089G>C c.3402C>G (p.Phe1134Leu) c.3045C>G (p.Phe1015Leu) | |
2 | g.166238106G>T | CA349068405 | SCN1A-AS1,SCN9A | c.3789C>A (p.Phe1263Leu) c.3756C>A (p.Phe1252Leu) n.612-10089G>T c.3402C>A (p.Phe1134Leu) c.3045C>A (p.Phe1015Leu) | |
2 | g.166238107A>C | CA349068407 | SCN1A-AS1,SCN9A | c.3788T>G (p.Phe1263Cys) c.3755T>G (p.Phe1252Cys) n.612-10088A>C c.3401T>G (p.Phe1134Cys) c.3044T>G (p.Phe1015Cys) | |
2 | g.166238107A>G | CA349068408 | SCN1A-AS1,SCN9A | c.3788T>C (p.Phe1263Ser) c.3755T>C (p.Phe1252Ser) n.612-10088A>G c.3401T>C (p.Phe1134Ser) c.3044T>C (p.Phe1015Ser) | |
2 | g.166238107A>T | CA349068410 | SCN1A-AS1,SCN9A | c.3788T>A (p.Phe1263Tyr) c.3755T>A (p.Phe1252Tyr) n.612-10088A>T c.3401T>A (p.Phe1134Tyr) c.3044T>A (p.Phe1015Tyr) | |
2 | g.166238108A>C | CA349068412 | SCN1A-AS1,SCN9A | c.3787T>G (p.Phe1263Val) c.3754T>G (p.Phe1252Val) n.612-10087A>C c.3400T>G (p.Phe1134Val) c.3043T>G (p.Phe1015Val) | |
2 | g.166238108A>G | CA349068414 | SCN1A-AS1,SCN9A | c.3787T>C (p.Phe1263Leu) c.3754T>C (p.Phe1252Leu) n.612-10087A>G c.3400T>C (p.Phe1134Leu) c.3043T>C (p.Phe1015Leu) | |
2 | g.166238108A>T | CA349068415 | SCN1A-AS1,SCN9A | c.3787T>A (p.Phe1263Ile) c.3754T>A (p.Phe1252Ile) n.612-10087A>T c.3400T>A (p.Phe1134Ile) c.3043T>A (p.Phe1015Ile) | |
2 | g.166238109A>C | CA349068417 | SCN1A-AS1,SCN9A | c.3786T>G (p.Asp1262Glu) c.3753T>G (p.Asp1251Glu) n.612-10086A>C c.3399T>G (p.Asp1133Glu) c.3042T>G (p.Asp1014Glu) | |
2 | g.166238109A>G | CA429900697 | SCN1A-AS1,SCN9A | c.3786T>C (p.Asp1262=) c.3753T>C (p.Asp1251=) n.612-10086A>G c.3399T>C (p.Asp1133=) c.3042T>C (p.Asp1014=) | |
2 | g.166238109A>T | CA349068419 | SCN1A-AS1,SCN9A | c.3786T>A (p.Asp1262Glu) c.3753T>A (p.Asp1251Glu) n.612-10086A>T c.3399T>A (p.Asp1133Glu) c.3042T>A (p.Asp1014Glu) | |
2 | g.166238110T>A | CA349068421 | SCN1A-AS1,SCN9A | c.3785A>T (p.Asp1262Val) c.3752A>T (p.Asp1251Val) n.612-10085T>A c.3398A>T (p.Asp1133Val) c.3041A>T (p.Asp1014Val) | |
2 | g.166238110T>C | CA349068422 | SCN1A-AS1,SCN9A | c.3785A>G (p.Asp1262Gly) c.3752A>G (p.Asp1251Gly) n.612-10085T>C c.3398A>G (p.Asp1133Gly) c.3041A>G (p.Asp1014Gly) | |
2 | g.166238110T>G | CA349068424 | SCN1A-AS1,SCN9A | c.3785A>C (p.Asp1262Ala) c.3752A>C (p.Asp1251Ala) n.612-10085T>G c.3398A>C (p.Asp1133Ala) c.3041A>C (p.Asp1014Ala) | |
2 | g.166238111C>A | CA349068428 | SCN1A-AS1,SCN9A | c.3784G>T (p.Asp1262Tyr) c.3751G>T (p.Asp1251Tyr) n.612-10084C>A c.3397G>T (p.Asp1133Tyr) c.3040G>T (p.Asp1014Tyr) | |
2 | g.166238111C>G | CA349068427 | SCN1A-AS1,SCN9A | c.3784G>C (p.Asp1262His) c.3751G>C (p.Asp1251His) n.612-10084C>G c.3397G>C (p.Asp1133His) c.3040G>C (p.Asp1014His) | |
2 | g.166238111C>T | CA349068425 | SCN1A-AS1,SCN9A | c.3784G>A (p.Asp1262Asn) c.3751G>A (p.Asp1251Asn) n.612-10084C>T c.3397G>A (p.Asp1133Asn) c.3040G>A (p.Asp1014Asn) | |
2 | g.166238112C>A | CA429900699 | SCN1A-AS1,SCN9A | c.3783G>T (p.Leu1261=) c.3750G>T (p.Leu1250=) n.612-10083C>A c.3396G>T (p.Leu1132=) c.3039G>T (p.Leu1013=) | |
2 | g.166238112C>G | CA429900700 | SCN1A-AS1,SCN9A | c.3783G>C (p.Leu1261=) c.3750G>C (p.Leu1250=) n.612-10083C>G c.3396G>C (p.Leu1132=) c.3039G>C (p.Leu1013=) | |
2 | g.166238112C>T | CA429900701 | SCN1A-AS1,SCN9A | c.3783G>A (p.Leu1261=) c.3750G>A (p.Leu1250=) n.612-10083C>T c.3396G>A (p.Leu1132=) c.3039G>A (p.Leu1013=) | |
2 | g.166238113A>C | CA349068431 | SCN1A-AS1,SCN9A | c.3782T>G (p.Leu1261Arg) c.3749T>G (p.Leu1250Arg) n.612-10082A>C c.3395T>G (p.Leu1132Arg) c.3038T>G (p.Leu1013Arg) | |
2 | g.166238113A>G | CA349068433 | SCN1A-AS1,SCN9A | c.3782T>C (p.Leu1261Pro) c.3749T>C (p.Leu1250Pro) n.612-10082A>G c.3395T>C (p.Leu1132Pro) c.3038T>C (p.Leu1013Pro) | gnomAD v4 |
2 | g.166238113A>T | CA349068434 | SCN1A-AS1,SCN9A | c.3782T>A (p.Leu1261Gln) c.3749T>A (p.Leu1250Gln) n.612-10082A>T c.3395T>A (p.Leu1132Gln) c.3038T>A (p.Leu1013Gln) | |
2 | g.166238114G>A | CA429900702 | SCN1A-AS1,SCN9A | c.3781C>T (p.Leu1261=) c.3748C>T (p.Leu1250=) n.612-10081G>A c.3394C>T (p.Leu1132=) c.3037C>T (p.Leu1013=) | ClinVar dbSNP gnomAD v4 |
2 | g.166238114G>C | CA349068436 | SCN1A-AS1,SCN9A | c.3781C>G (p.Leu1261Val) c.3748C>G (p.Leu1250Val) n.612-10081G>C c.3394C>G (p.Leu1132Val) c.3037C>G (p.Leu1013Val) | |
2 | g.166238114G= | CA1304949946 | SCN1A-AS1,SCN9A | c.3781C= (p.Leu1261=) c.3748C= (p.Leu1250=) n.612-10081G= c.3394C= (p.Leu1132=) c.3037C= (p.Leu1013=) | |
2 | g.166238114G>T | CA349068438 | SCN1A-AS1,SCN9A | c.3781C>A (p.Leu1261Met) c.3748C>A (p.Leu1250Met) n.612-10081G>T c.3394C>A (p.Leu1132Met) c.3037C>A (p.Leu1013Met) | |
2 | g.166238115C>A | CA349068440 | SCN1A-AS1,SCN9A | c.3780G>T (p.Trp1260Cys) c.3747G>T (p.Trp1249Cys) n.612-10080C>A c.3393G>T (p.Trp1131Cys) c.3036G>T (p.Trp1012Cys) | |
2 | g.166238115C= | CA1304949947 | SCN1A-AS1,SCN9A | c.3780G= (p.Trp1260=) c.3747G= (p.Trp1249=) n.612-10080C= c.3393G= (p.Trp1131=) c.3036G= (p.Trp1012=) | |
2 | g.166238115C>G | CA349068441 | SCN1A-AS1,SCN9A | c.3780G>C (p.Trp1260Cys) c.3747G>C (p.Trp1249Cys) n.612-10080C>G c.3393G>C (p.Trp1131Cys) c.3036G>C (p.Trp1012Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166238115C>T | CA349068443 | SCN1A-AS1,SCN9A | c.3780G>A (p.Trp1260Ter) c.3747G>A (p.Trp1249Ter) n.612-10080C>T c.3393G>A (p.Trp1131Ter) c.3036G>A (p.Trp1012Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166238116C>A | CA349068444 | SCN1A-AS1,SCN9A | c.3779G>T (p.Trp1260Leu) c.3746G>T (p.Trp1249Leu) n.612-10079C>A c.3392G>T (p.Trp1131Leu) c.3035G>T (p.Trp1012Leu) | |
2 | g.166238116C>G | CA349068445 | SCN1A-AS1,SCN9A | c.3779G>C (p.Trp1260Ser) c.3746G>C (p.Trp1249Ser) n.612-10079C>G c.3392G>C (p.Trp1131Ser) c.3035G>C (p.Trp1012Ser) | |
2 | g.166238116C>T | CA349068447 | SCN1A-AS1,SCN9A | c.3779G>A (p.Trp1260Ter) c.3746G>A (p.Trp1249Ter) n.612-10079C>T c.3392G>A (p.Trp1131Ter) c.3035G>A (p.Trp1012Ter) | |
2 | g.166238117A>C | CA349068449 | SCN1A-AS1,SCN9A | c.3778T>G (p.Trp1260Gly) c.3745T>G (p.Trp1249Gly) n.612-10078A>C c.3391T>G (p.Trp1131Gly) c.3034T>G (p.Trp1012Gly) | |
2 | g.166238117A>G | CA349068450 | SCN1A-AS1,SCN9A | c.3778T>C (p.Trp1260Arg) c.3745T>C (p.Trp1249Arg) n.612-10078A>G c.3391T>C (p.Trp1131Arg) c.3034T>C (p.Trp1012Arg) | |
2 | g.166238117A>T | CA349068452 | SCN1A-AS1,SCN9A | c.3778T>A (p.Trp1260Arg) c.3745T>A (p.Trp1249Arg) n.612-10078A>T c.3391T>A (p.Trp1131Arg) c.3034T>A (p.Trp1012Arg) | |
2 | g.166238118A= | CA1304949948 | SCN1A-AS1,SCN9A | c.3777T= (p.Cys1259=) c.3744T= (p.Cys1248=) n.612-10077A= c.3390T= (p.Cys1130=) c.3033T= (p.Cys1011=) | |
2 | g.166238118A>C | CA349068456 | SCN1A-AS1,SCN9A | c.3777T>G (p.Cys1259Trp) c.3744T>G (p.Cys1248Trp) n.612-10077A>C c.3390T>G (p.Cys1130Trp) c.3033T>G (p.Cys1011Trp) | |
2 | g.166238118A>G | CA1944011 | SCN1A-AS1,SCN9A | c.3777T>C (p.Cys1259=) c.3744T>C (p.Cys1248=) n.612-10077A>G c.3390T>C (p.Cys1130=) c.3033T>C (p.Cys1011=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166238118A>T | CA349068454 | SCN1A-AS1,SCN9A | c.3777T>A (p.Cys1259Ter) c.3744T>A (p.Cys1248Ter) n.612-10077A>T c.3390T>A (p.Cys1130Ter) c.3033T>A (p.Cys1011Ter) | dbSNP gnomAD v4 |
2 | g.166238119C>A | CA349068458 | SCN1A-AS1,SCN9A | c.3776G>T (p.Cys1259Phe) c.3743G>T (p.Cys1248Phe) n.612-10076C>A c.3389G>T (p.Cys1130Phe) c.3032G>T (p.Cys1011Phe) | ClinVar dbSNP |
2 | g.166238119C= | CA1304949949 | SCN1A-AS1,SCN9A | c.3776G= (p.Cys1259=) c.3743G= (p.Cys1248=) n.612-10076C= c.3389G= (p.Cys1130=) c.3032G= (p.Cys1011=) | |
2 | g.166238119C>G | CA349068459 | SCN1A-AS1,SCN9A | c.3776G>C (p.Cys1259Ser) c.3743G>C (p.Cys1248Ser) n.612-10076C>G c.3389G>C (p.Cys1130Ser) c.3032G>C (p.Cys1011Ser) | |
2 | g.166238119C>T | CA349068461 | SCN1A-AS1,SCN9A | c.3776G>A (p.Cys1259Tyr) c.3743G>A (p.Cys1248Tyr) n.612-10076C>T c.3389G>A (p.Cys1130Tyr) c.3032G>A (p.Cys1011Tyr) | |
2 | g.166238120A>C | CA349068463 | SCN1A-AS1,SCN9A | c.3775T>G (p.Cys1259Gly) c.3742T>G (p.Cys1248Gly) n.612-10075A>C c.3388T>G (p.Cys1130Gly) c.3031T>G (p.Cys1011Gly) | |
2 | g.166238120A>G | CA349068465 | SCN1A-AS1,SCN9A | c.3775T>C (p.Cys1259Arg) c.3742T>C (p.Cys1248Arg) n.612-10075A>G c.3388T>C (p.Cys1130Arg) c.3031T>C (p.Cys1011Arg) | |
2 | g.166238120A>T | CA349068467 | SCN1A-AS1,SCN9A | c.3775T>A (p.Cys1259Ser) c.3742T>A (p.Cys1248Ser) n.612-10075A>T c.3388T>A (p.Cys1130Ser) c.3031T>A (p.Cys1011Ser) | |
2 | g.166238120_166238123dup | CA2577144886 | SCN1A-AS1,SCN9A | c.3772_3775dup (p.Cys1259LeufsTer10) c.3739_3742dup (p.Cys1248LeufsTer10) n.612-10075_612-10072dup c.3385_3388dup (p.Cys1130LeufsTer10) c.3028_3031dup (p.Cys1011LeufsTer10) | |
2 | g.166238121C>A | CA349068470 | SCN1A-AS1,SCN9A | c.3774G>T (p.Trp1258Cys) c.3741G>T (p.Trp1247Cys) n.612-10074C>A c.3387G>T (p.Trp1129Cys) c.3030G>T (p.Trp1010Cys) | |
2 | g.166238121C= | CA1304949950 | SCN1A-AS1,SCN9A | c.3774G= (p.Trp1258=) c.3741G= (p.Trp1247=) n.612-10074C= c.3387G= (p.Trp1129=) c.3030G= (p.Trp1010=) | |
2 | g.166238121C>G | CA349068469 | SCN1A-AS1,SCN9A | c.3774G>C (p.Trp1258Cys) c.3741G>C (p.Trp1247Cys) n.612-10074C>G c.3387G>C (p.Trp1129Cys) c.3030G>C (p.Trp1010Cys) | |
2 | g.166238121C>T | CA1944012 | SCN1A-AS1,SCN9A | c.3774G>A (p.Trp1258Ter) c.3741G>A (p.Trp1247Ter) n.612-10074C>T c.3387G>A (p.Trp1129Ter) c.3030G>A (p.Trp1010Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166238122C>A | CA349068473 | SCN1A-AS1,SCN9A | c.3773G>T (p.Trp1258Leu) c.3740G>T (p.Trp1247Leu) n.612-10073C>A c.3386G>T (p.Trp1129Leu) c.3029G>T (p.Trp1010Leu) | dbSNP |
2 | g.166238122C= | CA1304949951 | SCN1A-AS1,SCN9A | c.3773G= (p.Trp1258=) c.3740G= (p.Trp1247=) n.612-10073C= c.3386G= (p.Trp1129=) c.3029G= (p.Trp1010=) | |
2 | g.166238122C>G | CA349068474 | SCN1A-AS1,SCN9A | c.3773G>C (p.Trp1258Ser) c.3740G>C (p.Trp1247Ser) n.612-10073C>G c.3386G>C (p.Trp1129Ser) c.3029G>C (p.Trp1010Ser) | |
2 | g.166238122C>T | CA349068475 | SCN1A-AS1,SCN9A | c.3773G>A (p.Trp1258Ter) c.3740G>A (p.Trp1247Ter) n.612-10073C>T c.3386G>A (p.Trp1129Ter) c.3029G>A (p.Trp1010Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166238123A>C | CA349068478 | SCN1A-AS1,SCN9A | c.3772T>G (p.Trp1258Gly) c.3739T>G (p.Trp1247Gly) n.612-10072A>C c.3385T>G (p.Trp1129Gly) c.3028T>G (p.Trp1010Gly) | |
2 | g.166238123A>G | CA349068479 | SCN1A-AS1,SCN9A | c.3772T>C (p.Trp1258Arg) c.3739T>C (p.Trp1247Arg) n.612-10072A>G c.3385T>C (p.Trp1129Arg) c.3028T>C (p.Trp1010Arg) | |
2 | g.166238123A>T | CA349068480 | SCN1A-AS1,SCN9A | c.3772T>A (p.Trp1258Arg) c.3739T>A (p.Trp1247Arg) n.612-10072A>T c.3385T>A (p.Trp1129Arg) c.3028T>A (p.Trp1010Arg) | |
2 | g.166238124G>A | CA429900703 | SCN1A-AS1,SCN9A | c.3771C>T (p.Ala1257=) c.3738C>T (p.Ala1246=) n.612-10071G>A c.3384C>T (p.Ala1128=) c.3027C>T (p.Ala1009=) | |
2 | g.166238124G>C | CA429900704 | SCN1A-AS1,SCN9A | c.3771C>G (p.Ala1257=) c.3738C>G (p.Ala1246=) n.612-10071G>C c.3384C>G (p.Ala1128=) c.3027C>G (p.Ala1009=) | COSMIC COSMIC |
2 | g.166238124G>T | CA429900705 | SCN1A-AS1,SCN9A | c.3771C>A (p.Ala1257=) c.3738C>A (p.Ala1246=) n.612-10071G>T c.3384C>A (p.Ala1128=) c.3027C>A (p.Ala1009=) | |
2 | g.166238125G>A | CA349068483 | SCN1A-AS1,SCN9A | c.3770C>T (p.Ala1257Val) c.3737C>T (p.Ala1246Val) n.612-10070G>A c.3383C>T (p.Ala1128Val) c.3026C>T (p.Ala1009Val) | gnomAD v4 |
2 | g.166238125G>C | CA349068486 | SCN1A-AS1,SCN9A | c.3770C>G (p.Ala1257Gly) c.3737C>G (p.Ala1246Gly) n.612-10070G>C c.3383C>G (p.Ala1128Gly) c.3026C>G (p.Ala1009Gly) | |
2 | g.166238125G>T | CA349068484 | SCN1A-AS1,SCN9A | c.3770C>A (p.Ala1257Asp) c.3737C>A (p.Ala1246Asp) n.612-10070G>T c.3383C>A (p.Ala1128Asp) c.3026C>A (p.Ala1009Asp) | |
2 | g.166238126C>A | CA349068488 | SCN1A-AS1,SCN9A | c.3769G>T (p.Ala1257Ser) c.3736G>T (p.Ala1246Ser) n.612-10069C>A c.3382G>T (p.Ala1128Ser) c.3025G>T (p.Ala1009Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166238126C= | CA1304949952 | SCN1A-AS1,SCN9A | c.3769G= (p.Ala1257=) c.3736G= (p.Ala1246=) n.612-10069C= c.3382G= (p.Ala1128=) c.3025G= (p.Ala1009=) | |
2 | g.166238126C>G | CA349068490 | SCN1A-AS1,SCN9A | c.3769G>C (p.Ala1257Pro) c.3736G>C (p.Ala1246Pro) n.612-10069C>G c.3382G>C (p.Ala1128Pro) c.3025G>C (p.Ala1009Pro) | |
2 | g.166238126C>T | CA349068491 | SCN1A-AS1,SCN9A | c.3769G>A (p.Ala1257Thr) c.3736G>A (p.Ala1246Thr) n.612-10069C>T c.3382G>A (p.Ala1128Thr) c.3025G>A (p.Ala1009Thr) | |
2 | g.166238127A= | CA1304949953 | SCN1A-AS1,SCN9A | c.3768T= (p.Asn1256=) c.3735T= (p.Asn1245=) n.612-10068A= c.3381T= (p.Asn1127=) c.3024T= (p.Asn1008=) | |
2 | g.166238127A>C | CA349068492 | SCN1A-AS1,SCN9A | c.3768T>G (p.Asn1256Lys) c.3735T>G (p.Asn1245Lys) n.612-10068A>C c.3381T>G (p.Asn1127Lys) c.3024T>G (p.Asn1008Lys) | |
2 | g.166238127A>G | CA429900706 | SCN1A-AS1,SCN9A | c.3768T>C (p.Asn1256=) c.3735T>C (p.Asn1245=) n.612-10068A>G c.3381T>C (p.Asn1127=) c.3024T>C (p.Asn1008=) | dbSNP |
2 | g.166238127A>T | CA349068494 | SCN1A-AS1,SCN9A | c.3768T>A (p.Asn1256Lys) c.3735T>A (p.Asn1245Lys) n.612-10068A>T c.3381T>A (p.Asn1127Lys) c.3024T>A (p.Asn1008Lys) | |
2 | g.166238128T>A | CA349068496 | SCN1A-AS1,SCN9A | c.3767A>T (p.Asn1256Ile) c.3734A>T (p.Asn1245Ile) n.612-10067T>A c.3380A>T (p.Asn1127Ile) c.3023A>T (p.Asn1008Ile) | |
2 | g.166238128T>C | CA201784 | SCN1A-AS1,SCN9A | c.3767A>G (p.Asn1256Ser) c.3734A>G (p.Asn1245Ser) n.612-10067T>C c.3380A>G (p.Asn1127Ser) c.3023A>G (p.Asn1008Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166238128T>G | CA349068499 | SCN1A-AS1,SCN9A | c.3767A>C (p.Asn1256Thr) c.3734A>C (p.Asn1245Thr) n.612-10067T>G c.3380A>C (p.Asn1127Thr) c.3023A>C (p.Asn1008Thr) | |
2 | g.166238128T= | CA1304949954 | SCN1A-AS1,SCN9A | c.3767A= (p.Asn1256=) c.3734A= (p.Asn1245=) n.612-10067T= c.3380A= (p.Asn1127=) c.3023A= (p.Asn1008=) | |
2 | g.166238129T>A | CA349068501 | SCN1A-AS1,SCN9A | c.3766A>T (p.Asn1256Tyr) c.3733A>T (p.Asn1245Tyr) n.612-10066T>A c.3379A>T (p.Asn1127Tyr) c.3022A>T (p.Asn1008Tyr) | |
2 | g.166238129T>C | CA349068502 | SCN1A-AS1,SCN9A | c.3766A>G (p.Asn1256Asp) c.3733A>G (p.Asn1245Asp) n.612-10066T>C c.3379A>G (p.Asn1127Asp) c.3022A>G (p.Asn1008Asp) | |
2 | g.166238129T>G | CA349068504 | SCN1A-AS1,SCN9A | c.3766A>C (p.Asn1256His) c.3733A>C (p.Asn1245His) n.612-10066T>G c.3379A>C (p.Asn1127His) c.3022A>C (p.Asn1008His) | |
2 | g.166238129_166238130delinsTG | CA1304949955 | SCN1A-AS1,SCN9A | c.3765_3766delinsCA (p.Thr1255=) c.3732_3733delinsCA (p.Thr1244=) n.612-10066_612-10065delinsTG c.3378_3379delinsCA (p.Thr1126=) c.3021_3022delinsCA (p.Thr1007=) | |
2 | g.166238130G>A | CA429900707 | SCN1A-AS1,SCN9A | c.3765C>T (p.Thr1255=) c.3732C>T (p.Thr1244=) n.612-10065G>A c.3378C>T (p.Thr1126=) c.3021C>T (p.Thr1007=) | |
2 | g.166238130G>C | CA429900708 | SCN1A-AS1,SCN9A | c.3765C>G (p.Thr1255=) c.3732C>G (p.Thr1244=) n.612-10065G>C c.3378C>G (p.Thr1126=) c.3021C>G (p.Thr1007=) | |
2 | g.166238130G>T | CA429900709 | SCN1A-AS1,SCN9A | c.3765C>A (p.Thr1255=) c.3732C>A (p.Thr1244=) n.612-10065G>T c.3378C>A (p.Thr1126=) c.3021C>A (p.Thr1007=) | gnomAD v4 |
2 | g.166238131del | CA59813651 | SCN1A-AS1,SCN9A | c.3765del (p.Asn1256MetfsTer9) c.3732del (p.Asn1245MetfsTer9) n.612-10064del c.3378del (p.Asn1127MetfsTer9) c.3021del (p.Asn1008MetfsTer9) | dbSNP |
2 | g.166238131G>A | CA349068505 | SCN1A-AS1,SCN9A | c.3764C>T (p.Thr1255Ile) c.3731C>T (p.Thr1244Ile) n.612-10064G>A c.3377C>T (p.Thr1126Ile) c.3020C>T (p.Thr1007Ile) | |
2 | g.166238131G>C | CA349068508 | SCN1A-AS1,SCN9A | c.3764C>G (p.Thr1255Ser) c.3731C>G (p.Thr1244Ser) n.612-10064G>C c.3377C>G (p.Thr1126Ser) c.3020C>G (p.Thr1007Ser) | |
2 | g.166238131G>T | CA349068506 | SCN1A-AS1,SCN9A | c.3764C>A (p.Thr1255Asn) c.3731C>A (p.Thr1244Asn) n.612-10064G>T c.3377C>A (p.Thr1126Asn) c.3020C>A (p.Thr1007Asn) | |
2 | g.166238132T>A | CA349068510 | SCN1A-AS1,SCN9A | c.3763A>T (p.Thr1255Ser) c.3730A>T (p.Thr1244Ser) n.612-10063T>A c.3376A>T (p.Thr1126Ser) c.3019A>T (p.Thr1007Ser) | |
2 | g.166238132T>C | CA349068513 | SCN1A-AS1,SCN9A | c.3763A>G (p.Thr1255Ala) c.3730A>G (p.Thr1244Ala) n.612-10063T>C c.3376A>G (p.Thr1126Ala) c.3019A>G (p.Thr1007Ala) | gnomAD v4 |
2 | g.166238132T>G | CA349068512 | SCN1A-AS1,SCN9A | c.3763A>C (p.Thr1255Pro) c.3730A>C (p.Thr1244Pro) n.612-10063T>G c.3376A>C (p.Thr1126Pro) c.3019A>C (p.Thr1007Pro) | |
2 | g.166238133G>A | CA429900710 | SCN1A-AS1,SCN9A | c.3762C>T (p.Phe1254=) c.3729C>T (p.Phe1243=) n.612-10062G>A c.3375C>T (p.Phe1125=) c.3018C>T (p.Phe1006=) | |
2 | g.166238133G>C | CA349068514 | SCN1A-AS1,SCN9A | c.3762C>G (p.Phe1254Leu) c.3729C>G (p.Phe1243Leu) n.612-10062G>C c.3375C>G (p.Phe1125Leu) c.3018C>G (p.Phe1006Leu) | |
2 | g.166238133G>T | CA349068515 | SCN1A-AS1,SCN9A | c.3762C>A (p.Phe1254Leu) c.3729C>A (p.Phe1243Leu) n.612-10062G>T c.3375C>A (p.Phe1125Leu) c.3018C>A (p.Phe1006Leu) | |
2 | g.166238133_166238135delinsGAA | CA1304949956 | SCN1A-AS1,SCN9A | c.3760_3762delinsTTC (p.Phe1254=) c.3727_3729delinsTTC (p.Phe1243=) n.612-10062_612-10060delinsGAA c.3373_3375delinsTTC (p.Phe1125=) c.3016_3018delinsTTC (p.Phe1006=) | |
2 | g.166238134A>C | CA349068518 | SCN1A-AS1,SCN9A | c.3761T>G (p.Phe1254Cys) c.3728T>G (p.Phe1243Cys) n.612-10061A>C c.3374T>G (p.Phe1125Cys) c.3017T>G (p.Phe1006Cys) | |
2 | g.166238134A>G | CA349068519 | SCN1A-AS1,SCN9A | c.3761T>C (p.Phe1254Ser) c.3728T>C (p.Phe1243Ser) n.612-10061A>G c.3374T>C (p.Phe1125Ser) c.3017T>C (p.Phe1006Ser) | |
2 | g.166238134A>T | CA349068521 | SCN1A-AS1,SCN9A | c.3761T>A (p.Phe1254Tyr) c.3728T>A (p.Phe1243Tyr) n.612-10061A>T c.3374T>A (p.Phe1125Tyr) c.3017T>A (p.Phe1006Tyr) | |
2 | g.166238135_166238136del | CA1304949957 | SCN1A-AS1,SCN9A | c.3760_3761del (p.Phe1254HisfsTer13) c.3727_3728del (p.Phe1243HisfsTer13) n.612-10060_612-10059del c.3373_3374del (p.Phe1125HisfsTer13) c.3016_3017del (p.Phe1006HisfsTer13) | dbSNP gnomAD v4 |
2 | g.166238135A>C | CA349068522 | SCN1A-AS1,SCN9A | c.3760T>G (p.Phe1254Val) c.3727T>G (p.Phe1243Val) n.612-10060A>C c.3373T>G (p.Phe1125Val) c.3016T>G (p.Phe1006Val) | |
2 | g.166238135A>G | CA349068524 | SCN1A-AS1,SCN9A | c.3760T>C (p.Phe1254Leu) c.3727T>C (p.Phe1243Leu) n.612-10060A>G c.3373T>C (p.Phe1125Leu) c.3016T>C (p.Phe1006Leu) | |
2 | g.166238135A>T | CA349068525 | SCN1A-AS1,SCN9A | c.3760T>A (p.Phe1254Ile) c.3727T>A (p.Phe1243Ile) n.612-10060A>T c.3373T>A (p.Phe1125Ile) c.3016T>A (p.Phe1006Ile) | |
2 | g.166238136A= | CA1304949958 | SCN1A-AS1,SCN9A | c.3759T= (p.Tyr1253=) c.3726T= (p.Tyr1242=) n.612-10059A= c.3372T= (p.Tyr1124=) c.3015T= (p.Tyr1005=) | |
2 | g.166238136A>C | CA349068527 | SCN1A-AS1,SCN9A | c.3759T>G (p.Tyr1253Ter) c.3726T>G (p.Tyr1242Ter) n.612-10059A>C c.3372T>G (p.Tyr1124Ter) c.3015T>G (p.Tyr1005Ter) | |
2 | g.166238136A>G | CA1944013 | SCN1A-AS1,SCN9A | c.3759T>C (p.Tyr1253=) c.3726T>C (p.Tyr1242=) n.612-10059A>G c.3372T>C (p.Tyr1124=) c.3015T>C (p.Tyr1005=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166238136A>T | CA349068529 | SCN1A-AS1,SCN9A | c.3759T>A (p.Tyr1253Ter) c.3726T>A (p.Tyr1242Ter) n.612-10059A>T c.3372T>A (p.Tyr1124Ter) c.3015T>A (p.Tyr1005Ter) | |
2 | g.166238137T>A | CA349068535 | SCN1A-AS1,SCN9A | c.3758A>T (p.Tyr1253Phe) c.3725A>T (p.Tyr1242Phe) n.612-10058T>A c.3371A>T (p.Tyr1124Phe) c.3014A>T (p.Tyr1005Phe) | |
2 | g.166238137T>C | CA349068533 | SCN1A-AS1,SCN9A | c.3758A>G (p.Tyr1253Cys) c.3725A>G (p.Tyr1242Cys) n.612-10058T>C c.3371A>G (p.Tyr1124Cys) c.3014A>G (p.Tyr1005Cys) | |
2 | g.166238137T>G | CA349068531 | SCN1A-AS1,SCN9A | c.3758A>C (p.Tyr1253Ser) c.3725A>C (p.Tyr1242Ser) n.612-10058T>G c.3371A>C (p.Tyr1124Ser) c.3014A>C (p.Tyr1005Ser) | |
2 | g.166238137_166238147delinsTATGTTTTATA | CA1304949959 | SCN1A-AS1,SCN9A | c.3748_3758delinsTATAAAACATA (p.Tyr1250=) c.3715_3725delinsTATAAAACATA (p.Tyr1239=) n.612-10058_612-10048delinsTATGTTTTATA c.3361_3371delinsTATAAAACATA (p.Tyr1121=) c.3004_3014delinsTATAAAACATA (p.Tyr1002=) | |
2 | g.166238138A>C | CA349068536 | SCN1A-AS1,SCN9A | c.3757T>G (p.Tyr1253Asp) c.3724T>G (p.Tyr1242Asp) n.612-10057A>C c.3370T>G (p.Tyr1124Asp) c.3013T>G (p.Tyr1005Asp) | |
2 | g.166238138A>G | CA349068538 | SCN1A-AS1,SCN9A | c.3757T>C (p.Tyr1253His) c.3724T>C (p.Tyr1242His) n.612-10057A>G c.3370T>C (p.Tyr1124His) c.3013T>C (p.Tyr1005His) | |
2 | g.166238138A>T | CA349068540 | SCN1A-AS1,SCN9A | c.3757T>A (p.Tyr1253Asn) c.3724T>A (p.Tyr1242Asn) n.612-10057A>T c.3370T>A (p.Tyr1124Asn) c.3013T>A (p.Tyr1005Asn) | |
2 | g.166238139_166238148del | CA1304949960 | SCN1A-AS1,SCN9A | c.3748_3757del (p.Tyr1250IlefsTer12) c.3715_3724del (p.Tyr1239IlefsTer12) n.612-10056_612-10047del c.3361_3370del (p.Tyr1121IlefsTer12) c.3004_3013del (p.Tyr1002IlefsTer12) | dbSNP |
2 | g.166238139T>A | CA429900713 | SCN1A-AS1,SCN9A | c.3756A>T (p.Thr1252=) c.3723A>T (p.Thr1241=) n.612-10056T>A c.3369A>T (p.Thr1123=) c.3012A>T (p.Thr1004=) | |
2 | g.166238139T>C | CA429900712 | SCN1A-AS1,SCN9A | c.3756A>G (p.Thr1252=) c.3723A>G (p.Thr1241=) n.612-10056T>C c.3369A>G (p.Thr1123=) c.3012A>G (p.Thr1004=) | |
2 | g.166238139T>G | CA429900711 | SCN1A-AS1,SCN9A | c.3756A>C (p.Thr1252=) c.3723A>C (p.Thr1241=) n.612-10056T>G c.3369A>C (p.Thr1123=) c.3012A>C (p.Thr1004=) | |
2 | g.166238140G>A | CA349068542 | SCN1A-AS1,SCN9A | c.3755C>T (p.Thr1252Ile) c.3722C>T (p.Thr1241Ile) n.612-10055G>A c.3368C>T (p.Thr1123Ile) c.3011C>T (p.Thr1004Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166238140G>C | CA349068544 | SCN1A-AS1,SCN9A | c.3755C>G (p.Thr1252Arg) c.3722C>G (p.Thr1241Arg) n.612-10055G>C c.3368C>G (p.Thr1123Arg) c.3011C>G (p.Thr1004Arg) | |
2 | g.166238140G= | CA1304949961 | SCN1A-AS1,SCN9A | c.3755C= (p.Thr1252=) c.3722C= (p.Thr1241=) n.612-10055G= c.3368C= (p.Thr1123=) c.3011C= (p.Thr1004=) | |
2 | g.166238140G>T | CA349068545 | SCN1A-AS1,SCN9A | c.3755C>A (p.Thr1252Lys) c.3722C>A (p.Thr1241Lys) n.612-10055G>T c.3368C>A (p.Thr1123Lys) c.3011C>A (p.Thr1004Lys) | |
2 | g.166238141T>A | CA349068546 | SCN1A-AS1,SCN9A | c.3754A>T (p.Thr1252Ser) c.3721A>T (p.Thr1241Ser) n.612-10054T>A c.3367A>T (p.Thr1123Ser) c.3010A>T (p.Thr1004Ser) | |
2 | g.166238141T>C | CA10612526 | SCN1A-AS1,SCN9A | c.3754A>G (p.Thr1252Ala) c.3721A>G (p.Thr1241Ala) n.612-10054T>C c.3367A>G (p.Thr1123Ala) c.3010A>G (p.Thr1004Ala) | ClinVar dbSNP |
2 | g.166238141T>G | CA349068547 | SCN1A-AS1,SCN9A | c.3754A>C (p.Thr1252Pro) c.3721A>C (p.Thr1241Pro) n.612-10054T>G c.3367A>C (p.Thr1123Pro) c.3010A>C (p.Thr1004Pro) | |
2 | g.166238141T= | CA1304949962 | SCN1A-AS1,SCN9A | c.3754A= (p.Thr1252=) c.3721A= (p.Thr1241=) n.612-10054T= c.3367A= (p.Thr1123=) c.3010A= (p.Thr1004=) | |
2 | g.166238142T>A | CA349068549 | SCN1A-AS1,SCN9A | c.3753A>T (p.Lys1251Asn) c.3720A>T (p.Lys1240Asn) n.612-10053T>A c.3366A>T (p.Lys1122Asn) c.3009A>T (p.Lys1003Asn) | |
2 | g.166238142T>C | CA429900714 | SCN1A-AS1,SCN9A | c.3753A>G (p.Lys1251=) c.3720A>G (p.Lys1240=) n.612-10053T>C c.3366A>G (p.Lys1122=) c.3009A>G (p.Lys1003=) | gnomAD v4 |
2 | g.166238142T>G | CA349068550 | SCN1A-AS1,SCN9A | c.3753A>C (p.Lys1251Asn) c.3720A>C (p.Lys1240Asn) n.612-10053T>G c.3366A>C (p.Lys1122Asn) c.3009A>C (p.Lys1003Asn) | |
2 | g.166238143T>A | CA349068553 | SCN1A-AS1,SCN9A | c.3752A>T (p.Lys1251Ile) c.3719A>T (p.Lys1240Ile) n.612-10052T>A c.3365A>T (p.Lys1122Ile) c.3008A>T (p.Lys1003Ile) | |
2 | g.166238143T>C | CA349068552 | SCN1A-AS1,SCN9A | c.3752A>G (p.Lys1251Arg) c.3719A>G (p.Lys1240Arg) n.612-10052T>C c.3365A>G (p.Lys1122Arg) c.3008A>G (p.Lys1003Arg) | ClinVar dbSNP |
2 | g.166238143T>G | CA349068551 | SCN1A-AS1,SCN9A | c.3752A>C (p.Lys1251Thr) c.3719A>C (p.Lys1240Thr) n.612-10052T>G c.3365A>C (p.Lys1122Thr) c.3008A>C (p.Lys1003Thr) | |
2 | g.166238143T= | CA1304949963 | SCN1A-AS1,SCN9A | c.3752A= (p.Lys1251=) c.3719A= (p.Lys1240=) n.612-10052T= c.3365A= (p.Lys1122=) c.3008A= (p.Lys1003=) | |
2 | g.166238144T>A | CA349068554 | SCN1A-AS1,SCN9A | c.3751A>T (p.Lys1251Ter) c.3718A>T (p.Lys1240Ter) n.612-10051T>A c.3364A>T (p.Lys1122Ter) c.3007A>T (p.Lys1003Ter) | dbSNP |
2 | g.166238144T>C | CA349068555 | SCN1A-AS1,SCN9A | c.3751A>G (p.Lys1251Glu) c.3718A>G (p.Lys1240Glu) n.612-10051T>C c.3364A>G (p.Lys1122Glu) c.3007A>G (p.Lys1003Glu) | |
2 | g.166238144T>G | CA349068557 | SCN1A-AS1,SCN9A | c.3751A>C (p.Lys1251Gln) c.3718A>C (p.Lys1240Gln) n.612-10051T>G c.3364A>C (p.Lys1122Gln) c.3007A>C (p.Lys1003Gln) | |
2 | g.166238144T= | CA1304949964 | SCN1A-AS1,SCN9A | c.3751A= (p.Lys1251=) c.3718A= (p.Lys1240=) n.612-10051T= c.3364A= (p.Lys1122=) c.3007A= (p.Lys1003=) | |
2 | g.166238145A= | CA1304949965 | SCN1A-AS1,SCN9A | c.3750T= (p.Tyr1250=) c.3717T= (p.Tyr1239=) n.612-10050A= c.3363T= (p.Tyr1121=) c.3006T= (p.Tyr1002=) | |
2 | g.166238145A>C | CA349068559 | SCN1A-AS1,SCN9A | c.3750T>G (p.Tyr1250Ter) c.3717T>G (p.Tyr1239Ter) n.612-10050A>C c.3363T>G (p.Tyr1121Ter) c.3006T>G (p.Tyr1002Ter) | |
2 | g.166238145A>G | CA429900715 | SCN1A-AS1,SCN9A | c.3750T>C (p.Tyr1250=) c.3717T>C (p.Tyr1239=) n.612-10050A>G c.3363T>C (p.Tyr1121=) c.3006T>C (p.Tyr1002=) | dbSNP |
2 | g.166238145A>T | CA349068561 | SCN1A-AS1,SCN9A | c.3750T>A (p.Tyr1250Ter) c.3717T>A (p.Tyr1239Ter) n.612-10050A>T c.3363T>A (p.Tyr1121Ter) c.3006T>A (p.Tyr1002Ter) | |
2 | g.166238146T>A | CA349068566 | SCN1A-AS1,SCN9A | c.3749A>T (p.Tyr1250Phe) c.3716A>T (p.Tyr1239Phe) n.612-10049T>A c.3362A>T (p.Tyr1121Phe) c.3005A>T (p.Tyr1002Phe) | |
2 | g.166238146T>C | CA349068564 | SCN1A-AS1,SCN9A | c.3749A>G (p.Tyr1250Cys) c.3716A>G (p.Tyr1239Cys) n.612-10049T>C c.3362A>G (p.Tyr1121Cys) c.3005A>G (p.Tyr1002Cys) | dbSNP |
2 | g.166238146T>G | CA349068562 | SCN1A-AS1,SCN9A | c.3749A>C (p.Tyr1250Ser) c.3716A>C (p.Tyr1239Ser) n.612-10049T>G c.3362A>C (p.Tyr1121Ser) c.3005A>C (p.Tyr1002Ser) | |
2 | g.166238146T= | CA1304949966 | SCN1A-AS1,SCN9A | c.3749A= (p.Tyr1250=) c.3716A= (p.Tyr1239=) n.612-10049T= c.3362A= (p.Tyr1121=) c.3005A= (p.Tyr1002=) | |
2 | g.166238147A>C | CA349068568 | SCN1A-AS1,SCN9A | c.3748T>G (p.Tyr1250Asp) c.3715T>G (p.Tyr1239Asp) n.612-10048A>C c.3361T>G (p.Tyr1121Asp) c.3004T>G (p.Tyr1002Asp) | |
2 | g.166238147A>G | CA349068569 | SCN1A-AS1,SCN9A | c.3748T>C (p.Tyr1250His) c.3715T>C (p.Tyr1239His) n.612-10048A>G c.3361T>C (p.Tyr1121His) c.3004T>C (p.Tyr1002His) | |
2 | g.166238147A>T | CA349068570 | SCN1A-AS1,SCN9A | c.3748T>A (p.Tyr1250Asn) c.3715T>A (p.Tyr1239Asn) n.612-10048A>T c.3361T>A (p.Tyr1121Asn) c.3004T>A (p.Tyr1002Asn) | |
2 | g.166238148A>C | CA429900716 | SCN1A-AS1,SCN9A | c.3747T>G (p.Gly1249=) c.3714T>G (p.Gly1238=) n.612-10047A>C c.3360T>G (p.Gly1120=) c.3003T>G (p.Gly1001=) | |
2 | g.166238148A>G | CA429900717 | SCN1A-AS1,SCN9A | c.3747T>C (p.Gly1249=) c.3714T>C (p.Gly1238=) n.612-10047A>G c.3360T>C (p.Gly1120=) c.3003T>C (p.Gly1001=) | |
2 | g.166238148A>T | CA429900718 | SCN1A-AS1,SCN9A | c.3747T>A (p.Gly1249=) c.3714T>A (p.Gly1238=) n.612-10047A>T c.3360T>A (p.Gly1120=) c.3003T>A (p.Gly1001=) | |
2 | g.166238149C>A | CA349068573 | SCN1A-AS1,SCN9A | c.3746G>T (p.Gly1249Val) c.3713G>T (p.Gly1238Val) n.612-10046C>A c.3359G>T (p.Gly1120Val) c.3002G>T (p.Gly1001Val) | |
2 | g.166238149C>G | CA349068574 | SCN1A-AS1,SCN9A | c.3746G>C (p.Gly1249Ala) c.3713G>C (p.Gly1238Ala) n.612-10046C>G c.3359G>C (p.Gly1120Ala) c.3002G>C (p.Gly1001Ala) | |
2 | g.166238149C>T | CA349068576 | SCN1A-AS1,SCN9A | c.3746G>A (p.Gly1249Asp) c.3713G>A (p.Gly1238Asp) n.612-10046C>T c.3359G>A (p.Gly1120Asp) c.3002G>A (p.Gly1001Asp) | |
2 | g.166238153_166238163del | CA2586970374 | SCN1A-AS1,SCN9A | c.3736_3746del (p.Ile1246LeufsTer2) c.3703_3713del (p.Ile1235LeufsTer2) n.612-10042_612-10032del c.3349_3359del (p.Ile1117LeufsTer2) c.2992_3002del (p.Ile998LeufsTer2) | gnomAD v4 |
2 | g.166238150C>A | CA349068577 | SCN1A-AS1,SCN9A | c.3745G>T (p.Gly1249Cys) c.3712G>T (p.Gly1238Cys) n.612-10045C>A c.3358G>T (p.Gly1120Cys) c.3001G>T (p.Gly1001Cys) | gnomAD v4 |
2 | g.166238150C>G | CA349068580 | SCN1A-AS1,SCN9A | c.3745G>C (p.Gly1249Arg) c.3712G>C (p.Gly1238Arg) n.612-10045C>G c.3358G>C (p.Gly1120Arg) c.3001G>C (p.Gly1001Arg) | |
2 | g.166238150C>T | CA349068578 | SCN1A-AS1,SCN9A | c.3745G>A (p.Gly1249Ser) c.3712G>A (p.Gly1238Ser) n.612-10045C>T c.3358G>A (p.Gly1120Ser) c.3001G>A (p.Gly1001Ser) | |
2 | g.166238151A>C | CA349068582 | SCN1A-AS1,SCN9A | c.3744T>G (p.Tyr1248Ter) c.3711T>G (p.Tyr1237Ter) n.612-10044A>C c.3357T>G (p.Tyr1119Ter) c.3000T>G (p.Tyr1000Ter) | |
2 | g.166238151A>G | CA429900719 | SCN1A-AS1,SCN9A | c.3744T>C (p.Tyr1248=) c.3711T>C (p.Tyr1237=) n.612-10044A>G c.3357T>C (p.Tyr1119=) c.3000T>C (p.Tyr1000=) | ClinVar COSMIC |
2 | g.166238151A>T | CA349068584 | SCN1A-AS1,SCN9A | c.3744T>A (p.Tyr1248Ter) c.3711T>A (p.Tyr1237Ter) n.612-10044A>T c.3357T>A (p.Tyr1119Ter) c.3000T>A (p.Tyr1000Ter) | |
2 | g.166238152T>A | CA349068585 | SCN1A-AS1,SCN9A | c.3743A>T (p.Tyr1248Phe) c.3710A>T (p.Tyr1237Phe) n.612-10043T>A c.3356A>T (p.Tyr1119Phe) c.2999A>T (p.Tyr1000Phe) | |
2 | g.166238152T>C | CA349068588 | SCN1A-AS1,SCN9A | c.3743A>G (p.Tyr1248Cys) c.3710A>G (p.Tyr1237Cys) n.612-10043T>C c.3356A>G (p.Tyr1119Cys) c.2999A>G (p.Tyr1000Cys) | gnomAD v4 |
2 | g.166238152T>G | CA349068589 | SCN1A-AS1,SCN9A | c.3743A>C (p.Tyr1248Ser) c.3710A>C (p.Tyr1237Ser) n.612-10043T>G c.3356A>C (p.Tyr1119Ser) c.2999A>C (p.Tyr1000Ser) | |
2 | g.166238153A= | CA1304949967 | SCN1A-AS1,SCN9A | c.3742T= (p.Tyr1248=) c.3709T= (p.Tyr1237=) n.612-10042A= c.3355T= (p.Tyr1119=) c.2998T= (p.Tyr1000=) | |
2 | g.166238153A>C | CA349068591 | SCN1A-AS1,SCN9A | c.3742T>G (p.Tyr1248Asp) c.3709T>G (p.Tyr1237Asp) n.612-10042A>C c.3355T>G (p.Tyr1119Asp) c.2998T>G (p.Tyr1000Asp) | |
2 | g.166238153A>G | CA349068593 | SCN1A-AS1,SCN9A | c.3742T>C (p.Tyr1248His) c.3709T>C (p.Tyr1237His) n.612-10042A>G c.3355T>C (p.Tyr1119His) c.2998T>C (p.Tyr1000His) | dbSNP |
2 | g.166238153A>T | CA349068595 | SCN1A-AS1,SCN9A | c.3742T>A (p.Tyr1248Asn) c.3709T>A (p.Tyr1237Asn) n.612-10042A>T c.3355T>A (p.Tyr1119Asn) c.2998T>A (p.Tyr1000Asn) | |
2 | g.166238154T>A | CA429900720 | SCN1A-AS1,SCN9A | c.3741A>T (p.Ala1247=) c.3708A>T (p.Ala1236=) n.612-10041T>A c.3354A>T (p.Ala1118=) c.2997A>T (p.Ala999=) | ClinVar dbSNP |
2 | g.166238154T>C | CA429900721 | SCN1A-AS1,SCN9A | c.3741A>G (p.Ala1247=) c.3708A>G (p.Ala1236=) n.612-10041T>C c.3354A>G (p.Ala1118=) c.2997A>G (p.Ala999=) | |
2 | g.166238154T>G | CA429900722 | SCN1A-AS1,SCN9A | c.3741A>C (p.Ala1247=) c.3708A>C (p.Ala1236=) n.612-10041T>G c.3354A>C (p.Ala1118=) c.2997A>C (p.Ala999=) | |
2 | g.166238155G>A | CA349068596 | SCN1A-AS1,SCN9A | c.3740C>T (p.Ala1247Val) c.3707C>T (p.Ala1236Val) n.612-10040G>A c.3353C>T (p.Ala1118Val) c.2996C>T (p.Ala999Val) | |
2 | g.166238155G>C | CA349068598 | SCN1A-AS1,SCN9A | c.3740C>G (p.Ala1247Gly) c.3707C>G (p.Ala1236Gly) n.612-10040G>C c.3353C>G (p.Ala1118Gly) c.2996C>G (p.Ala999Gly) | |
2 | g.166238155G= | CA1304949968 | SCN1A-AS1,SCN9A | c.3740C= (p.Ala1247=) c.3707C= (p.Ala1236=) n.612-10040G= c.3353C= (p.Ala1118=) c.2996C= (p.Ala999=) | |
2 | g.166238155G>T | CA349068600 | SCN1A-AS1,SCN9A | c.3740C>A (p.Ala1247Glu) c.3707C>A (p.Ala1236Glu) n.612-10040G>T c.3353C>A (p.Ala1118Glu) c.2996C>A (p.Ala999Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166238156C>A | CA349068603 | SCN1A-AS1,SCN9A | c.3739G>T (p.Ala1247Ser) c.3706G>T (p.Ala1236Ser) n.612-10039C>A c.3352G>T (p.Ala1118Ser) c.2995G>T (p.Ala999Ser) | COSMIC COSMIC |
2 | g.166238156C>G | CA349068604 | SCN1A-AS1,SCN9A | c.3739G>C (p.Ala1247Pro) c.3706G>C (p.Ala1236Pro) n.612-10039C>G c.3352G>C (p.Ala1118Pro) c.2995G>C (p.Ala999Pro) | |
2 | g.166238156C>T | CA349068602 | SCN1A-AS1,SCN9A | c.3739G>A (p.Ala1247Thr) c.3706G>A (p.Ala1236Thr) n.612-10039C>T c.3352G>A (p.Ala1118Thr) c.2995G>A (p.Ala999Thr) | |
2 | g.166238157_166238160dup | CA2740095795 | SCN1A-AS1,SCN9A | c.3736_3739dup (p.Ala1247AspfsTer6) c.3703_3706dup (p.Ala1236AspfsTer6) n.612-10038_612-10035dup c.3349_3352dup (p.Ala1118AspfsTer6) c.2992_2995dup (p.Ala999AspfsTer6) | ClinVar |
2 | g.166238157T>A | CA429900723 | SCN1A-AS1,SCN9A | c.3738A>T (p.Ile1246=) c.3705A>T (p.Ile1235=) n.612-10038T>A c.3351A>T (p.Ile1117=) c.2994A>T (p.Ile998=) | |
2 | g.166238157T>C | CA349068607 | SCN1A-AS1,SCN9A | c.3738A>G (p.Ile1246Met) c.3705A>G (p.Ile1235Met) n.612-10038T>C c.3351A>G (p.Ile1117Met) c.2994A>G (p.Ile998Met) | |
2 | g.166238157T>G | CA429900724 | SCN1A-AS1,SCN9A | c.3738A>C (p.Ile1246=) c.3705A>C (p.Ile1235=) n.612-10038T>G c.3351A>C (p.Ile1117=) c.2994A>C (p.Ile998=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166238157T= | CA1304949969 | SCN1A-AS1,SCN9A | c.3738A= (p.Ile1246=) c.3705A= (p.Ile1235=) n.612-10038T= c.3351A= (p.Ile1117=) c.2994A= (p.Ile998=) | |
2 | g.166238158A= | CA1304949970 | SCN1A-AS1,SCN9A | c.3737T= (p.Ile1246=) c.3704T= (p.Ile1235=) n.612-10037A= c.3350T= (p.Ile1117=) c.2993T= (p.Ile998=) | |
2 | g.166238158A>C | CA349068608 | SCN1A-AS1,SCN9A | c.3737T>G (p.Ile1246Arg) c.3704T>G (p.Ile1235Arg) n.612-10037A>C c.3350T>G (p.Ile1117Arg) c.2993T>G (p.Ile998Arg) | ClinVar dbSNP |
2 | g.166238158A>G | CA349068610 | SCN1A-AS1,SCN9A | c.3737T>C (p.Ile1246Thr) c.3704T>C (p.Ile1235Thr) n.612-10037A>G c.3350T>C (p.Ile1117Thr) c.2993T>C (p.Ile998Thr) | gnomAD v4 |
2 | g.166238158A>T | CA349068609 | SCN1A-AS1,SCN9A | c.3737T>A (p.Ile1246Lys) c.3704T>A (p.Ile1235Lys) n.612-10037A>T c.3350T>A (p.Ile1117Lys) c.2993T>A (p.Ile998Lys) | dbSNP COSMIC COSMIC |
2 | g.166238159T>A | CA349068612 | SCN1A-AS1,SCN9A | c.3736A>T (p.Ile1246Leu) c.3703A>T (p.Ile1235Leu) n.612-10036T>A c.3349A>T (p.Ile1117Leu) c.2992A>T (p.Ile998Leu) | |
2 | g.166238159T>C | CA349068615 | SCN1A-AS1,SCN9A | c.3736A>G (p.Ile1246Val) c.3703A>G (p.Ile1235Val) n.612-10036T>C c.3349A>G (p.Ile1117Val) c.2992A>G (p.Ile998Val) | |
2 | g.166238159T>G | CA349068614 | SCN1A-AS1,SCN9A | c.3736A>C (p.Ile1246Leu) c.3703A>C (p.Ile1235Leu) n.612-10036T>G c.3349A>C (p.Ile1117Leu) c.2992A>C (p.Ile998Leu) | |
2 | g.166238160C>A | CA349068616 | SCN1A-AS1,SCN9A | c.3735G>T (p.Trp1245Cys) c.3702G>T (p.Trp1234Cys) n.612-10035C>A c.3348G>T (p.Trp1116Cys) c.2991G>T (p.Trp997Cys) | |
2 | g.166238160C= | CA1304949971 | SCN1A-AS1,SCN9A | c.3735G= (p.Trp1245=) c.3702G= (p.Trp1234=) n.612-10035C= c.3348G= (p.Trp1116=) c.2991G= (p.Trp997=) | |
2 | g.166238160C>G | CA349068618 | SCN1A-AS1,SCN9A | c.3735G>C (p.Trp1245Cys) c.3702G>C (p.Trp1234Cys) n.612-10035C>G c.3348G>C (p.Trp1116Cys) c.2991G>C (p.Trp997Cys) | |
2 | g.166238160C>T | CA349068619 | SCN1A-AS1,SCN9A | c.3735G>A (p.Trp1245Ter) c.3702G>A (p.Trp1234Ter) n.612-10035C>T c.3348G>A (p.Trp1116Ter) c.2991G>A (p.Trp997Ter) | dbSNP COSMIC COSMIC |
2 | g.166238161C>A | CA349068622 | SCN1A-AS1,SCN9A | c.3734G>T (p.Trp1245Leu) c.3701G>T (p.Trp1234Leu) n.612-10034C>A c.3347G>T (p.Trp1116Leu) c.2990G>T (p.Trp997Leu) | |
2 | g.166238161C>G | CA349068623 | SCN1A-AS1,SCN9A | c.3734G>C (p.Trp1245Ser) c.3701G>C (p.Trp1234Ser) n.612-10034C>G c.3347G>C (p.Trp1116Ser) c.2990G>C (p.Trp997Ser) | |
2 | g.166238161C>T | CA349068624 | SCN1A-AS1,SCN9A | c.3734G>A (p.Trp1245Ter) c.3701G>A (p.Trp1234Ter) n.612-10034C>T c.3347G>A (p.Trp1116Ter) c.2990G>A (p.Trp997Ter) | gnomAD v4 COSMIC COSMIC |
2 | g.166238162A>C | CA349068630 | SCN1A-AS1,SCN9A | c.3733T>G (p.Trp1245Gly) c.3700T>G (p.Trp1234Gly) n.612-10033A>C c.3346T>G (p.Trp1116Gly) c.2989T>G (p.Trp997Gly) | |
2 | g.166238162A>G | CA349068627 | SCN1A-AS1,SCN9A | c.3733T>C (p.Trp1245Arg) c.3700T>C (p.Trp1234Arg) n.612-10033A>G c.3346T>C (p.Trp1116Arg) c.2989T>C (p.Trp997Arg) | |
2 | g.166238162A>T | CA349068628 | SCN1A-AS1,SCN9A | c.3733T>A (p.Trp1245Arg) c.3700T>A (p.Trp1234Arg) n.612-10033A>T c.3346T>A (p.Trp1116Arg) c.2989T>A (p.Trp997Arg) | |
2 | g.166238163T>A | CA349068632 | SCN1A-AS1,SCN9A | c.3732A>T (p.Lys1244Asn) c.3699A>T (p.Lys1233Asn) n.612-10032T>A c.3345A>T (p.Lys1115Asn) c.2988A>T (p.Lys996Asn) | |
2 | g.166238163T>C | CA429900725 | SCN1A-AS1,SCN9A | c.3732A>G (p.Lys1244=) c.3699A>G (p.Lys1233=) n.612-10032T>C c.3345A>G (p.Lys1115=) c.2988A>G (p.Lys996=) | |
2 | g.166238163T>G | CA349068633 | SCN1A-AS1,SCN9A | c.3732A>C (p.Lys1244Asn) c.3699A>C (p.Lys1233Asn) n.612-10032T>G c.3345A>C (p.Lys1115Asn) c.2988A>C (p.Lys996Asn) | |
2 | g.166238164T>A | CA349068635 | SCN1A-AS1,SCN9A | c.3731A>T (p.Lys1244Ile) c.3698A>T (p.Lys1233Ile) n.612-10031T>A c.3344A>T (p.Lys1115Ile) c.2987A>T (p.Lys996Ile) | |
2 | g.166238164T>C | CA349068637 | SCN1A-AS1,SCN9A | c.3731A>G (p.Lys1244Arg) c.3698A>G (p.Lys1233Arg) n.612-10031T>C c.3344A>G (p.Lys1115Arg) c.2987A>G (p.Lys996Arg) | |
2 | g.166238164T>G | CA349068638 | SCN1A-AS1,SCN9A | c.3731A>C (p.Lys1244Thr) c.3698A>C (p.Lys1233Thr) n.612-10031T>G c.3344A>C (p.Lys1115Thr) c.2987A>C (p.Lys996Thr) | |
2 | g.166238165T>A | CA349068641 | SCN1A-AS1,SCN9A | c.3730A>T (p.Lys1244Ter) c.3697A>T (p.Lys1233Ter) n.612-10030T>A c.3343A>T (p.Lys1115Ter) c.2986A>T (p.Lys996Ter) | dbSNP |
2 | g.166238165T>C | CA349068643 | SCN1A-AS1,SCN9A | c.3730A>G (p.Lys1244Glu) c.3697A>G (p.Lys1233Glu) n.612-10030T>C c.3343A>G (p.Lys1115Glu) c.2986A>G (p.Lys996Glu) | |
2 | g.166238165T>G | CA349068642 | SCN1A-AS1,SCN9A | c.3730A>C (p.Lys1244Gln) c.3697A>C (p.Lys1233Gln) n.612-10030T>G c.3343A>C (p.Lys1115Gln) c.2986A>C (p.Lys996Gln) | |
2 | g.166238165T= | CA1304949972 | SCN1A-AS1,SCN9A | c.3730A= (p.Lys1244=) c.3697A= (p.Lys1233=) n.612-10030T= c.3343A= (p.Lys1115=) c.2986A= (p.Lys996=) | |
2 | g.166238166T>A | CA429900727 | SCN1A-AS1,SCN9A | c.3729A>T (p.Leu1243=) c.3696A>T (p.Leu1232=) n.612-10029T>A c.3342A>T (p.Leu1114=) c.2985A>T (p.Leu995=) | |
2 | g.166238166T>C | CA429900728 | SCN1A-AS1,SCN9A | c.3729A>G (p.Leu1243=) c.3696A>G (p.Leu1232=) n.612-10029T>C c.3342A>G (p.Leu1114=) c.2985A>G (p.Leu995=) | |
2 | g.166238166T>G | CA429900726 | SCN1A-AS1,SCN9A | c.3729A>C (p.Leu1243=) c.3696A>C (p.Leu1232=) n.612-10029T>G c.3342A>C (p.Leu1114=) c.2985A>C (p.Leu995=) | |
2 | g.166238167A>C | CA349068644 | SCN1A-AS1,SCN9A | c.3728T>G (p.Leu1243Arg) c.3695T>G (p.Leu1232Arg) n.612-10028A>C c.3341T>G (p.Leu1114Arg) c.2984T>G (p.Leu995Arg) | |
2 | g.166238167A>G | CA349068645 | SCN1A-AS1,SCN9A | c.3728T>C (p.Leu1243Pro) c.3695T>C (p.Leu1232Pro) n.612-10028A>G c.3341T>C (p.Leu1114Pro) c.2984T>C (p.Leu995Pro) | |
2 | g.166238167A>T | CA349068646 | SCN1A-AS1,SCN9A | c.3728T>A (p.Leu1243Gln) c.3695T>A (p.Leu1232Gln) n.612-10028A>T c.3341T>A (p.Leu1114Gln) c.2984T>A (p.Leu995Gln) | COSMIC COSMIC |
2 | g.166238168G>A | CA429900729 | SCN1A-AS1,SCN9A | c.3727C>T (p.Leu1243=) c.3694C>T (p.Leu1232=) n.612-10027G>A c.3340C>T (p.Leu1114=) c.2983C>T (p.Leu995=) | |
2 | g.166238168G>C | CA349068647 | SCN1A-AS1,SCN9A | c.3727C>G (p.Leu1243Val) c.3694C>G (p.Leu1232Val) n.612-10027G>C c.3340C>G (p.Leu1114Val) c.2983C>G (p.Leu995Val) | |
2 | g.166238168G>T | CA349068649 | SCN1A-AS1,SCN9A | c.3727C>A (p.Leu1243Ile) c.3694C>A (p.Leu1232Ile) n.612-10027G>T c.3340C>A (p.Leu1114Ile) c.2983C>A (p.Leu995Ile) | |
2 | g.166238168_166238169delinsGA | CA1304949973 | SCN1A-AS1,SCN9A | c.3726_3727delinsTC (p.Leu1242=) c.3693_3694delinsTC (p.Leu1231=) n.612-10027_612-10026delinsGA c.3339_3340delinsTC (p.Leu1113=) c.2982_2983delinsTC (p.Leu994=) | |
2 | g.166238169A>C | CA429900732 | SCN1A-AS1,SCN9A | c.3726T>G (p.Leu1242=) c.3693T>G (p.Leu1231=) n.612-10026A>C c.3339T>G (p.Leu1113=) c.2982T>G (p.Leu994=) | |
2 | g.166238169A>G | CA429900731 | SCN1A-AS1,SCN9A | c.3726T>C (p.Leu1242=) c.3693T>C (p.Leu1231=) n.612-10026A>G c.3339T>C (p.Leu1113=) c.2982T>C (p.Leu994=) | |
2 | g.166238169A>T | CA429900730 | SCN1A-AS1,SCN9A | c.3726T>A (p.Leu1242=) c.3693T>A (p.Leu1231=) n.612-10026A>T c.3339T>A (p.Leu1113=) c.2982T>A (p.Leu994=) | |
2 | g.166238170del | CA760189787 | SCN1A-AS1,SCN9A | c.3726del (p.Leu1243Ter) c.3693del (p.Leu1232Ter) n.612-10025del c.3339del (p.Leu1114Ter) c.2982del (p.Leu995Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166238170A= | CA1304949974 | SCN1A-AS1,SCN9A | c.3725T= (p.Leu1242=) c.3692T= (p.Leu1231=) n.612-10025A= c.3338T= (p.Leu1113=) c.2981T= (p.Leu994=) | |
2 | g.166238170A>C | CA349068651 | SCN1A-AS1,SCN9A | c.3725T>G (p.Leu1242Arg) c.3692T>G (p.Leu1231Arg) n.612-10025A>C c.3338T>G (p.Leu1113Arg) c.2981T>G (p.Leu994Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166238170A>G | CA349068652 | SCN1A-AS1,SCN9A | c.3725T>C (p.Leu1242Pro) c.3692T>C (p.Leu1231Pro) n.612-10025A>G c.3338T>C (p.Leu1113Pro) c.2981T>C (p.Leu994Pro) | |
2 | g.166238170A>T | CA349068654 | SCN1A-AS1,SCN9A | c.3725T>A (p.Leu1242His) c.3692T>A (p.Leu1231His) n.612-10025A>T c.3338T>A (p.Leu1113His) c.2981T>A (p.Leu994His) | |
2 | g.166238171G>A | CA349068656 | SCN1A-AS1,SCN9A | c.3724C>T (p.Leu1242Phe) c.3691C>T (p.Leu1231Phe) n.612-10024G>A c.3337C>T (p.Leu1113Phe) c.2980C>T (p.Leu994Phe) | |
2 | g.166238171G>C | CA349068658 | SCN1A-AS1,SCN9A | c.3724C>G (p.Leu1242Val) c.3691C>G (p.Leu1231Val) n.612-10024G>C c.3337C>G (p.Leu1113Val) c.2980C>G (p.Leu994Val) | ClinVar |
2 | g.166238171G>T | CA349068659 | SCN1A-AS1,SCN9A | c.3724C>A (p.Leu1242Ile) c.3691C>A (p.Leu1231Ile) n.612-10024G>T c.3337C>A (p.Leu1113Ile) c.2980C>A (p.Leu994Ile) | |
2 | g.166238172C>A | CA349068661 | SCN1A-AS1,SCN9A | c.3723G>T (p.Met1241Ile) c.3690G>T (p.Met1230Ile) n.612-10023C>A c.3336G>T (p.Met1112Ile) c.2979G>T (p.Met993Ile) | |
2 | g.166238172C>G | CA349068664 | SCN1A-AS1,SCN9A | c.3723G>C (p.Met1241Ile) c.3690G>C (p.Met1230Ile) n.612-10023C>G c.3336G>C (p.Met1112Ile) c.2979G>C (p.Met993Ile) | |
2 | g.166238172C>T | CA349068662 | SCN1A-AS1,SCN9A | c.3723G>A (p.Met1241Ile) c.3690G>A (p.Met1230Ile) n.612-10023C>T c.3336G>A (p.Met1112Ile) c.2979G>A (p.Met993Ile) | |
2 | g.166238173A= | CA1304949975 | SCN1A-AS1,SCN9A | c.3722T= (p.Met1241=) c.3689T= (p.Met1230=) n.612-10022A= c.3335T= (p.Met1112=) c.2978T= (p.Met993=) | |
2 | g.166238173A>C | CA349068666 | SCN1A-AS1,SCN9A | c.3722T>G (p.Met1241Arg) c.3689T>G (p.Met1230Arg) n.612-10022A>C c.3335T>G (p.Met1112Arg) c.2978T>G (p.Met993Arg) | |
2 | g.166238173A>G | CA59813655 | SCN1A-AS1,SCN9A | c.3722T>C (p.Met1241Thr) c.3689T>C (p.Met1230Thr) n.612-10022A>G c.3335T>C (p.Met1112Thr) c.2978T>C (p.Met993Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.166238173A>T | CA349068668 | SCN1A-AS1,SCN9A | c.3722T>A (p.Met1241Lys) c.3689T>A (p.Met1230Lys) n.612-10022A>T c.3335T>A (p.Met1112Lys) c.2978T>A (p.Met993Lys) | |
2 | g.166238173_166238174delinsAT | CA1304949976 | SCN1A-AS1,SCN9A | c.3721_3722delinsAT (p.Met1241=) c.3688_3689delinsAT (p.Met1230=) n.612-10022_612-10021delinsAT c.3334_3335delinsAT (p.Met1112=) c.2977_2978delinsAT (p.Met993=) | |
2 | g.166238174T>A | CA349068670 | SCN1A-AS1,SCN9A | c.3721A>T (p.Met1241Leu) c.3688A>T (p.Met1230Leu) n.612-10021T>A c.3334A>T (p.Met1112Leu) c.2977A>T (p.Met993Leu) | |
2 | g.166238174T>C | CA349068672 | SCN1A-AS1,SCN9A | c.3721A>G (p.Met1241Val) c.3688A>G (p.Met1230Val) n.612-10021T>C c.3334A>G (p.Met1112Val) c.2977A>G (p.Met993Val) | |
2 | g.166238174T>G | CA349068673 | SCN1A-AS1,SCN9A | c.3721A>C (p.Met1241Leu) c.3688A>C (p.Met1230Leu) n.612-10021T>G c.3334A>C (p.Met1112Leu) c.2977A>C (p.Met993Leu) | |
2 | g.166238176del | CA537513852 | SCN1A-AS1,SCN9A | c.3721del (p.Met1241CysfsTer3) c.3688del (p.Met1230CysfsTer3) n.612-10019del c.3334del (p.Met1112CysfsTer3) c.2977del (p.Met993CysfsTer3) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166238175T>A | CA349068675 | SCN1A-AS1,SCN9A | c.3720A>T (p.Glu1240Asp) c.3687A>T (p.Glu1229Asp) n.612-10020T>A c.3333A>T (p.Glu1111Asp) c.2976A>T (p.Glu992Asp) | |
2 | g.166238175T>C | CA429900733 | SCN1A-AS1,SCN9A | c.3720A>G (p.Glu1240=) c.3687A>G (p.Glu1229=) n.612-10020T>C c.3333A>G (p.Glu1111=) c.2976A>G (p.Glu992=) | |
2 | g.166238175T>G | CA349068676 | SCN1A-AS1,SCN9A | c.3720A>C (p.Glu1240Asp) c.3687A>C (p.Glu1229Asp) n.612-10020T>G c.3333A>C (p.Glu1111Asp) c.2976A>C (p.Glu992Asp) | |
2 | g.166238176T>A | CA349068677 | SCN1A-AS1,SCN9A | c.3719A>T (p.Glu1240Val) c.3686A>T (p.Glu1229Val) n.612-10019T>A c.3332A>T (p.Glu1111Val) c.2975A>T (p.Glu992Val) | |
2 | g.166238176T>C | CA349068679 | SCN1A-AS1,SCN9A | c.3719A>G (p.Glu1240Gly) c.3686A>G (p.Glu1229Gly) n.612-10019T>C c.3332A>G (p.Glu1111Gly) c.2975A>G (p.Glu992Gly) | |
2 | g.166238176T>G | CA349068680 | SCN1A-AS1,SCN9A | c.3719A>C (p.Glu1240Ala) c.3686A>C (p.Glu1229Ala) n.612-10019T>G c.3332A>C (p.Glu1111Ala) c.2975A>C (p.Glu992Ala) | |
2 | g.166238177C>A | CA349068685 | SCN1A-AS1,SCN9A | c.3718G>T (p.Glu1240Ter) c.3685G>T (p.Glu1229Ter) n.612-10018C>A c.3331G>T (p.Glu1111Ter) c.2974G>T (p.Glu992Ter) | dbSNP gnomAD v4 |
2 | g.166238177C= | CA1304949977 | SCN1A-AS1,SCN9A | c.3718G= (p.Glu1240=) c.3685G= (p.Glu1229=) n.612-10018C= c.3331G= (p.Glu1111=) c.2974G= (p.Glu992=) | |
2 | g.166238177C>G | CA349068684 | SCN1A-AS1,SCN9A | c.3718G>C (p.Glu1240Gln) c.3685G>C (p.Glu1229Gln) n.612-10018C>G c.3331G>C (p.Glu1111Gln) c.2974G>C (p.Glu992Gln) | |
2 | g.166238177C>T | CA349068682 | SCN1A-AS1,SCN9A | c.3718G>A (p.Glu1240Lys) c.3685G>A (p.Glu1229Lys) n.612-10018C>T c.3331G>A (p.Glu1111Lys) c.2974G>A (p.Glu992Lys) | gnomAD v4 |
2 | g.166238178C>A | CA429900734 | SCN1A-AS1,SCN9A | c.3717G>T (p.Leu1239=) c.3684G>T (p.Leu1228=) n.612-10017C>A c.3330G>T (p.Leu1110=) c.2973G>T (p.Leu991=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166238178C= | CA1304949978 | SCN1A-AS1,SCN9A | c.3717G= (p.Leu1239=) c.3684G= (p.Leu1228=) n.612-10017C= c.3330G= (p.Leu1110=) c.2973G= (p.Leu991=) | |
2 | g.166238178C>G | CA429900735 | SCN1A-AS1,SCN9A | c.3717G>C (p.Leu1239=) c.3684G>C (p.Leu1228=) n.612-10017C>G c.3330G>C (p.Leu1110=) c.2973G>C (p.Leu991=) | |
2 | g.166238178C>T | CA429900736 | SCN1A-AS1,SCN9A | c.3717G>A (p.Leu1239=) c.3684G>A (p.Leu1228=) n.612-10017C>T c.3330G>A (p.Leu1110=) c.2973G>A (p.Leu991=) | dbSNP |
2 | g.166238179A>C | CA349068687 | SCN1A-AS1,SCN9A | c.3716T>G (p.Leu1239Arg) c.3683T>G (p.Leu1228Arg) n.612-10016A>C c.3329T>G (p.Leu1110Arg) c.2972T>G (p.Leu991Arg) | |
2 | g.166238179A>G | CA349068689 | SCN1A-AS1,SCN9A | c.3716T>C (p.Leu1239Pro) c.3683T>C (p.Leu1228Pro) n.612-10016A>G c.3329T>C (p.Leu1110Pro) c.2972T>C (p.Leu991Pro) | |
2 | g.166238179A>T | CA349068691 | SCN1A-AS1,SCN9A | c.3716T>A (p.Leu1239Gln) c.3683T>A (p.Leu1228Gln) n.612-10016A>T c.3329T>A (p.Leu1110Gln) c.2972T>A (p.Leu991Gln) | |
2 | g.166238180G>A | CA429900737 | SCN1A-AS1,SCN9A | c.3715C>T (p.Leu1239=) c.3682C>T (p.Leu1228=) n.612-10015G>A c.3328C>T (p.Leu1110=) c.2971C>T (p.Leu991=) | |
2 | g.166238180G>C | CA349068692 | SCN1A-AS1,SCN9A | c.3715C>G (p.Leu1239Val) c.3682C>G (p.Leu1228Val) n.612-10015G>C c.3328C>G (p.Leu1110Val) c.2971C>G (p.Leu991Val) | |
2 | g.166238180G= | CA1304949979 | SCN1A-AS1,SCN9A | c.3715C= (p.Leu1239=) c.3682C= (p.Leu1228=) n.612-10015G= c.3328C= (p.Leu1110=) c.2971C= (p.Leu991=) | |
2 | g.166238180G>T | CA1944014 | SCN1A-AS1,SCN9A | c.3715C>A (p.Leu1239Met) c.3682C>A (p.Leu1228Met) n.612-10015G>T c.3328C>A (p.Leu1110Met) c.2971C>A (p.Leu991Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166238181A>C | CA349068695 | SCN1A-AS1,SCN9A | c.3714T>G (p.Ile1238Met) c.3681T>G (p.Ile1227Met) n.612-10014A>C c.3327T>G (p.Ile1109Met) c.2970T>G (p.Ile990Met) | |
2 | g.166238181A>G | CA429900738 | SCN1A-AS1,SCN9A | c.3714T>C (p.Ile1238=) c.3681T>C (p.Ile1227=) n.612-10014A>G c.3327T>C (p.Ile1109=) c.2970T>C (p.Ile990=) | |
2 | g.166238181A>T | CA429900739 | SCN1A-AS1,SCN9A | c.3714T>A (p.Ile1238=) c.3681T>A (p.Ile1227=) n.612-10014A>T c.3327T>A (p.Ile1109=) c.2970T>A (p.Ile990=) | gnomAD v4 |
2 | g.166238182A>C | CA349068697 | SCN1A-AS1,SCN9A | c.3713T>G (p.Ile1238Ser) c.3680T>G (p.Ile1227Ser) n.612-10013A>C c.3326T>G (p.Ile1109Ser) c.2969T>G (p.Ile990Ser) | |
2 | g.166238182A>G | CA349068698 | SCN1A-AS1,SCN9A | c.3713T>C (p.Ile1238Thr) c.3680T>C (p.Ile1227Thr) n.612-10013A>G c.3326T>C (p.Ile1109Thr) c.2969T>C (p.Ile990Thr) | |
2 | g.166238182A>T | CA349068700 | SCN1A-AS1,SCN9A | c.3713T>A (p.Ile1238Asn) c.3680T>A (p.Ile1227Asn) n.612-10013A>T c.3326T>A (p.Ile1109Asn) c.2969T>A (p.Ile990Asn) |