Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166242568C>A | CA349070298 | SCN1A-AS1,SCN9A | c.3561G>T (p.Lys1187Asn) c.3528G>T (p.Lys1176Asn) n.612-5627C>A c.3174G>T (p.Lys1058Asn) c.2817G>T (p.Lys939Asn) | gnomAD v4 |
2 | g.166242568C= | CA1304945630 | SCN1A-AS1,SCN9A | c.3561G= (p.Lys1187=) c.3528G= (p.Lys1176=) n.612-5627C= c.3174G= (p.Lys1058=) c.2817G= (p.Lys939=) | |
2 | g.166242568C>G | CA1944030 | SCN1A-AS1,SCN9A | c.3561G>C (p.Lys1187Asn) c.3528G>C (p.Lys1176Asn) n.612-5627C>G c.3174G>C (p.Lys1058Asn) c.2817G>C (p.Lys939Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242568C>T | CA429901325 | SCN1A-AS1,SCN9A | c.3561G>A (p.Lys1187=) c.3528G>A (p.Lys1176=) n.612-5627C>T c.3174G>A (p.Lys1058=) c.2817G>A (p.Lys939=) | |
2 | g.166242569T>A | CA349070303 | SCN1A-AS1,SCN9A | c.3560A>T (p.Lys1187Met) c.3527A>T (p.Lys1176Met) n.612-5626T>A c.3173A>T (p.Lys1058Met) c.2816A>T (p.Lys939Met) | |
2 | g.166242569T>C | CA349070305 | SCN1A-AS1,SCN9A | c.3560A>G (p.Lys1187Arg) c.3527A>G (p.Lys1176Arg) n.612-5626T>C c.3173A>G (p.Lys1058Arg) c.2816A>G (p.Lys939Arg) | |
2 | g.166242569T>G | CA349070306 | SCN1A-AS1,SCN9A | c.3560A>C (p.Lys1187Thr) c.3527A>C (p.Lys1176Thr) n.612-5626T>G c.3173A>C (p.Lys1058Thr) c.2816A>C (p.Lys939Thr) | |
2 | g.166242570T>A | CA349070311 | SCN1A-AS1,SCN9A | c.3559A>T (p.Lys1187Ter) c.3526A>T (p.Lys1176Ter) n.612-5625T>A c.3172A>T (p.Lys1058Ter) c.2815A>T (p.Lys939Ter) | dbSNP |
2 | g.166242570T>C | CA349070313 | SCN1A-AS1,SCN9A | c.3559A>G (p.Lys1187Glu) c.3526A>G (p.Lys1176Glu) n.612-5625T>C c.3172A>G (p.Lys1058Glu) c.2815A>G (p.Lys939Glu) | |
2 | g.166242570T>G | CA349070315 | SCN1A-AS1,SCN9A | c.3559A>C (p.Lys1187Gln) c.3526A>C (p.Lys1176Gln) n.612-5625T>G c.3172A>C (p.Lys1058Gln) c.2815A>C (p.Lys939Gln) | |
2 | g.166242570T= | CA1304945632 | SCN1A-AS1,SCN9A | c.3559A= (p.Lys1187=) c.3526A= (p.Lys1176=) n.612-5625T= c.3172A= (p.Lys1058=) c.2815A= (p.Lys939=) | |
2 | g.166242571G>A | CA429901328 | SCN1A-AS1,SCN9A | c.3558C>T (p.Tyr1186=) c.3525C>T (p.Tyr1175=) n.612-5624G>A c.3171C>T (p.Tyr1057=) c.2814C>T (p.Tyr938=) | gnomAD v4 |
2 | g.166242571G>C | CA349070319 | SCN1A-AS1,SCN9A | c.3558C>G (p.Tyr1186Ter) c.3525C>G (p.Tyr1175Ter) n.612-5624G>C c.3171C>G (p.Tyr1057Ter) c.2814C>G (p.Tyr938Ter) | |
2 | g.166242571G>T | CA349070322 | SCN1A-AS1,SCN9A | c.3558C>A (p.Tyr1186Ter) c.3525C>A (p.Tyr1175Ter) n.612-5624G>T c.3171C>A (p.Tyr1057Ter) c.2814C>A (p.Tyr938Ter) | gnomAD v4 |
2 | g.166242572T>A | CA349070324 | SCN1A-AS1,SCN9A | c.3557A>T (p.Tyr1186Phe) c.3524A>T (p.Tyr1175Phe) n.612-5623T>A c.3170A>T (p.Tyr1057Phe) c.2813A>T (p.Tyr938Phe) | |
2 | g.166242572T>C | CA349070326 | SCN1A-AS1,SCN9A | c.3557A>G (p.Tyr1186Cys) c.3524A>G (p.Tyr1175Cys) n.612-5623T>C c.3170A>G (p.Tyr1057Cys) c.2813A>G (p.Tyr938Cys) | |
2 | g.166242572T>G | CA349070328 | SCN1A-AS1,SCN9A | c.3557A>C (p.Tyr1186Ser) c.3524A>C (p.Tyr1175Ser) n.612-5623T>G c.3170A>C (p.Tyr1057Ser) c.2813A>C (p.Tyr938Ser) | |
2 | g.166242573A= | CA1304945634 | SCN1A-AS1,SCN9A | c.3556T= (p.Tyr1186=) c.3523T= (p.Tyr1175=) n.612-5622A= c.3169T= (p.Tyr1057=) c.2812T= (p.Tyr938=) | |
2 | g.166242573A>C | CA349070335 | SCN1A-AS1,SCN9A | c.3556T>G (p.Tyr1186Asp) c.3523T>G (p.Tyr1175Asp) n.612-5622A>C c.3169T>G (p.Tyr1057Asp) c.2812T>G (p.Tyr938Asp) | |
2 | g.166242573A>G | CA349070334 | SCN1A-AS1,SCN9A | c.3556T>C (p.Tyr1186His) c.3523T>C (p.Tyr1175His) n.612-5622A>G c.3169T>C (p.Tyr1057His) c.2812T>C (p.Tyr938His) | dbSNP |
2 | g.166242573A>T | CA349070332 | SCN1A-AS1,SCN9A | c.3556T>A (p.Tyr1186Asn) c.3523T>A (p.Tyr1175Asn) n.612-5622A>T c.3169T>A (p.Tyr1057Asn) c.2812T>A (p.Tyr938Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242574G>A | CA429901332 | SCN1A-AS1,SCN9A | c.3555C>T (p.Cys1185=) c.3522C>T (p.Cys1174=) n.612-5621G>A c.3168C>T (p.Cys1056=) c.2811C>T (p.Cys937=) | |
2 | g.166242574G>C | CA349070340 | SCN1A-AS1,SCN9A | c.3555C>G (p.Cys1185Trp) c.3522C>G (p.Cys1174Trp) n.612-5621G>C c.3168C>G (p.Cys1056Trp) c.2811C>G (p.Cys937Trp) | |
2 | g.166242574G= | CA1304945638 | SCN1A-AS1,SCN9A | c.3555C= (p.Cys1185=) c.3522C= (p.Cys1174=) n.612-5621G= c.3168C= (p.Cys1056=) c.2811C= (p.Cys937=) | |
2 | g.166242574G>T | CA349070337 | SCN1A-AS1,SCN9A | c.3555C>A (p.Cys1185Ter) c.3522C>A (p.Cys1174Ter) n.612-5621G>T c.3168C>A (p.Cys1056Ter) c.2811C>A (p.Cys937Ter) | dbSNP gnomAD v4 |
2 | g.166242575C>A | CA349070342 | SCN1A-AS1,SCN9A | c.3554G>T (p.Cys1185Phe) c.3521G>T (p.Cys1174Phe) c.2255G>T n.612-5620C>A c.3167G>T (p.Cys1056Phe) c.2810G>T (p.Cys937Phe) | gnomAD v4 |
2 | g.166242575C>G | CA349070344 | SCN1A-AS1,SCN9A | c.3554G>C (p.Cys1185Ser) c.3521G>C (p.Cys1174Ser) c.2255G>C n.612-5620C>G c.3167G>C (p.Cys1056Ser) c.2810G>C (p.Cys937Ser) | |
2 | g.166242575C>T | CA349070345 | SCN1A-AS1,SCN9A | c.3554G>A (p.Cys1185Tyr) c.3521G>A (p.Cys1174Tyr) c.2255G>A n.612-5620C>T c.3167G>A (p.Cys1056Tyr) c.2810G>A (p.Cys937Tyr) | |
2 | g.166242576A>C | CA349070348 | SCN1A-AS1,SCN9A | c.3553T>G (p.Cys1185Gly) c.3520T>G (p.Cys1174Gly) c.2254T>G n.612-5619A>C c.3166T>G (p.Cys1056Gly) c.2809T>G (p.Cys937Gly) | gnomAD v4 |
2 | g.166242576A>G | CA349070352 | SCN1A-AS1,SCN9A | c.3553T>C (p.Cys1185Arg) c.3520T>C (p.Cys1174Arg) c.2254T>C n.612-5619A>G c.3166T>C (p.Cys1056Arg) c.2809T>C (p.Cys937Arg) | |
2 | g.166242576A>T | CA349070355 | SCN1A-AS1,SCN9A | c.3553T>A (p.Cys1185Ser) c.3520T>A (p.Cys1174Ser) c.2254T>A n.612-5619A>T c.3166T>A (p.Cys1056Ser) c.2809T>A (p.Cys937Ser) | |
2 | g.166242577G>A | CA429901336 | SCN1A-AS1,SCN9A | c.3552C>T (p.Thr1184=) c.3519C>T (p.Thr1173=) c.2253C>T n.612-5618G>A c.3165C>T (p.Thr1055=) c.2808C>T (p.Thr936=) | gnomAD v4 |
2 | g.166242577G>C | CA429901335 | SCN1A-AS1,SCN9A | c.3552C>G (p.Thr1184=) c.3519C>G (p.Thr1173=) c.2253C>G n.612-5618G>C c.3165C>G (p.Thr1055=) c.2808C>G (p.Thr936=) | dbSNP |
2 | g.166242577G= | CA1304945640 | SCN1A-AS1,SCN9A | c.3552C= (p.Thr1184=) c.3519C= (p.Thr1173=) c.2253C= n.612-5618G= c.3165C= (p.Thr1055=) c.2808C= (p.Thr936=) | |
2 | g.166242577G>T | CA429901334 | SCN1A-AS1,SCN9A | c.3552C>A (p.Thr1184=) c.3519C>A (p.Thr1173=) c.2253C>A n.612-5618G>T c.3165C>A (p.Thr1055=) c.2808C>A (p.Thr936=) | gnomAD v4 |
2 | g.166242578G>A | CA349070356 | SCN1A-AS1,SCN9A | c.3551C>T (p.Thr1184Ile) c.3518C>T (p.Thr1173Ile) c.2252C>T n.612-5617G>A c.3164C>T (p.Thr1055Ile) c.2807C>T (p.Thr936Ile) | |
2 | g.166242578G>C | CA349070357 | SCN1A-AS1,SCN9A | c.3551C>G (p.Thr1184Ser) c.3518C>G (p.Thr1173Ser) c.2252C>G n.612-5617G>C c.3164C>G (p.Thr1055Ser) c.2807C>G (p.Thr936Ser) | |
2 | g.166242578G>T | CA349070359 | SCN1A-AS1,SCN9A | c.3551C>A (p.Thr1184Asn) c.3518C>A (p.Thr1173Asn) c.2252C>A n.612-5617G>T c.3164C>A (p.Thr1055Asn) c.2807C>A (p.Thr936Asn) | |
2 | g.166242579T>A | CA349070362 | SCN1A-AS1,SCN9A | c.3550A>T (p.Thr1184Ser) c.3517A>T (p.Thr1173Ser) c.2251A>T n.612-5616T>A c.3163A>T (p.Thr1055Ser) c.2806A>T (p.Thr936Ser) | |
2 | g.166242579T>C | CA349070364 | SCN1A-AS1,SCN9A | c.3550A>G (p.Thr1184Ala) c.3517A>G (p.Thr1173Ala) c.2251A>G n.612-5616T>C c.3163A>G (p.Thr1055Ala) c.2806A>G (p.Thr936Ala) | |
2 | g.166242579T>G | CA349070366 | SCN1A-AS1,SCN9A | c.3550A>C (p.Thr1184Pro) c.3517A>C (p.Thr1173Pro) c.2251A>C n.612-5616T>G c.3163A>C (p.Thr1055Pro) c.2806A>C (p.Thr936Pro) | COSMIC COSMIC |
2 | g.166242582del | CA2580064325 | SCN1A-AS1,SCN9A | c.3550del (p.Thr1184ProfsTer18) c.3517del (p.Thr1173ProfsTer18) c.2251del n.612-5613del c.3163del (p.Thr1055ProfsTer18) c.2806del (p.Thr936ProfsTer18) | ClinVar gnomAD v4 |
2 | g.166242580T>A | CA349070370 | SCN1A-AS1,SCN9A | c.3549A>T (p.Lys1183Asn) c.3516A>T (p.Lys1172Asn) c.2250A>T n.612-5615T>A c.3162A>T (p.Lys1054Asn) c.2805A>T (p.Lys935Asn) | |
2 | g.166242580T>C | CA429901339 | SCN1A-AS1,SCN9A | c.3549A>G (p.Lys1183=) c.3516A>G (p.Lys1172=) c.2250A>G n.612-5615T>C c.3162A>G (p.Lys1054=) c.2805A>G (p.Lys935=) | gnomAD v4 |
2 | g.166242580T>G | CA349070368 | SCN1A-AS1,SCN9A | c.3549A>C (p.Lys1183Asn) c.3516A>C (p.Lys1172Asn) c.2250A>C n.612-5615T>G c.3162A>C (p.Lys1054Asn) c.2805A>C (p.Lys935Asn) | |
2 | g.166242581T>A | CA349070373 | SCN1A-AS1,SCN9A | c.3548A>T (p.Lys1183Ile) c.3515A>T (p.Lys1172Ile) c.2249A>T n.612-5614T>A c.3161A>T (p.Lys1054Ile) c.2804A>T (p.Lys935Ile) | |
2 | g.166242581T>C | CA349070375 | SCN1A-AS1,SCN9A | c.3548A>G (p.Lys1183Arg) c.3515A>G (p.Lys1172Arg) c.2249A>G n.612-5614T>C c.3161A>G (p.Lys1054Arg) c.2804A>G (p.Lys935Arg) | |
2 | g.166242581T>G | CA1944031 | SCN1A-AS1,SCN9A | c.3548A>C (p.Lys1183Thr) c.3515A>C (p.Lys1172Thr) c.2249A>C n.612-5614T>G c.3161A>C (p.Lys1054Thr) c.2804A>C (p.Lys935Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242581T= | CA1304945642 | SCN1A-AS1,SCN9A | c.3548A= (p.Lys1183=) c.3515A= (p.Lys1172=) c.2249A= n.612-5614T= c.3161A= (p.Lys1054=) c.2804A= (p.Lys935=) | |
2 | g.166242582T>A | CA349070379 | SCN1A-AS1,SCN9A | c.3547A>T (p.Lys1183Ter) c.3514A>T (p.Lys1172Ter) c.2248A>T n.612-5613T>A c.3160A>T (p.Lys1054Ter) c.2803A>T (p.Lys935Ter) | dbSNP |
2 | g.166242582T>C | CA349070383 | SCN1A-AS1,SCN9A | c.3547A>G (p.Lys1183Glu) c.3514A>G (p.Lys1172Glu) c.2248A>G n.612-5613T>C c.3160A>G (p.Lys1054Glu) c.2803A>G (p.Lys935Glu) | |
2 | g.166242582T>G | CA349070385 | SCN1A-AS1,SCN9A | c.3547A>C (p.Lys1183Gln) c.3514A>C (p.Lys1172Gln) c.2248A>C n.612-5613T>G c.3160A>C (p.Lys1054Gln) c.2803A>C (p.Lys935Gln) | |
2 | g.166242582T= | CA1304945644 | SCN1A-AS1,SCN9A | c.3547A= (p.Lys1183=) c.3514A= (p.Lys1172=) c.2248A= n.612-5613T= c.3160A= (p.Lys1054=) c.2803A= (p.Lys935=) | |
2 | g.166242582_166242583delinsTC | CA1304945643 | SCN1A-AS1,SCN9A | c.3546_3547delinsGA (p.Arg1182=) c.3513_3514delinsGA (p.Arg1171=) c.2247_2248delinsGA n.612-5613_612-5612delinsTC c.3159_3160delinsGA (p.Arg1053=) c.2802_2803delinsGA (p.Arg934=) | |
2 | g.166242583C>A | CA349070387 | SCN1A-AS1,SCN9A | c.3546G>T (p.Arg1182Ser) c.3513G>T (p.Arg1171Ser) c.2247G>T n.612-5612C>A c.3159G>T (p.Arg1053Ser) c.2802G>T (p.Arg934Ser) | |
2 | g.166242583C>G | CA349070389 | SCN1A-AS1,SCN9A | c.3546G>C (p.Arg1182Ser) c.3513G>C (p.Arg1171Ser) c.2247G>C n.612-5612C>G c.3159G>C (p.Arg1053Ser) c.2802G>C (p.Arg934Ser) | |
2 | g.166242583C>T | CA429901343 | SCN1A-AS1,SCN9A | c.3546G>A (p.Arg1182=) c.3513G>A (p.Arg1171=) c.2247G>A n.612-5612C>T c.3159G>A (p.Arg1053=) c.2802G>A (p.Arg934=) | COSMIC COSMIC |
2 | g.166242584del | CA760192116 | SCN1A-AS1,SCN9A | c.3546del (p.Thr1184ProfsTer18) c.3513del (p.Thr1173ProfsTer18) c.2247del n.612-5611del c.3159del (p.Thr1055ProfsTer18) c.2802del (p.Thr936ProfsTer18) | dbSNP |
2 | g.166242584C>A | CA349070391 | SCN1A-AS1,SCN9A | c.3545G>T (p.Arg1182Met) c.3512G>T (p.Arg1171Met) c.2246G>T n.612-5611C>A c.3158G>T (p.Arg1053Met) c.2801G>T (p.Arg934Met) | gnomAD v4 |
2 | g.166242584C= | CA1304945646 | SCN1A-AS1,SCN9A | c.3545G= (p.Arg1182=) c.3512G= (p.Arg1171=) c.2246G= n.612-5611C= c.3158G= (p.Arg1053=) c.2801G= (p.Arg934=) | |
2 | g.166242584C>G | CA349070393 | SCN1A-AS1,SCN9A | c.3545G>C (p.Arg1182Thr) c.3512G>C (p.Arg1171Thr) c.2246G>C n.612-5611C>G c.3158G>C (p.Arg1053Thr) c.2801G>C (p.Arg934Thr) | |
2 | g.166242584C>T | CA1944032 | SCN1A-AS1,SCN9A | c.3545G>A (p.Arg1182Lys) c.3512G>A (p.Arg1171Lys) c.2246G>A n.612-5611C>T c.3158G>A (p.Arg1053Lys) c.2801G>A (p.Arg934Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166242585T>A | CA349070397 | SCN1A-AS1,SCN9A | c.3544A>T (p.Arg1182Trp) c.3511A>T (p.Arg1171Trp) c.2245A>T n.612-5610T>A c.3157A>T (p.Arg1053Trp) c.2800A>T (p.Arg934Trp) | |
2 | g.166242585T>C | CA349070400 | SCN1A-AS1,SCN9A | c.3544A>G (p.Arg1182Gly) c.3511A>G (p.Arg1171Gly) c.2245A>G n.612-5610T>C c.3157A>G (p.Arg1053Gly) c.2800A>G (p.Arg934Gly) | |
2 | g.166242585T>G | CA429901345 | SCN1A-AS1,SCN9A | c.3544A>C (p.Arg1182=) c.3511A>C (p.Arg1171=) c.2245A>C n.612-5610T>G c.3157A>C (p.Arg1053=) c.2800A>C (p.Arg934=) | |
2 | g.166242586G>A | CA429901349 | SCN1A-AS1,SCN9A | c.3543C>T (p.Ile1181=) c.3510C>T (p.Ile1170=) c.2244C>T n.612-5609G>A c.3156C>T (p.Ile1052=) c.2799C>T (p.Ile933=) | dbSNP gnomAD v4 |
2 | g.166242586G>C | CA349070403 | SCN1A-AS1,SCN9A | c.3543C>G (p.Ile1181Met) c.3510C>G (p.Ile1170Met) c.2244C>G n.612-5609G>C c.3156C>G (p.Ile1052Met) c.2799C>G (p.Ile933Met) | |
2 | g.166242586G= | CA1304945647 | SCN1A-AS1,SCN9A | c.3543C= (p.Ile1181=) c.3510C= (p.Ile1170=) c.2244C= n.612-5609G= c.3156C= (p.Ile1052=) c.2799C= (p.Ile933=) | |
2 | g.166242586G>T | CA429901350 | SCN1A-AS1,SCN9A | c.3543C>A (p.Ile1181=) c.3510C>A (p.Ile1170=) c.2244C>A n.612-5609G>T c.3156C>A (p.Ile1052=) c.2799C>A (p.Ile933=) | dbSNP gnomAD v2 |
2 | g.166242587A= | CA1304945650 | SCN1A-AS1,SCN9A | c.3542T= (p.Ile1181=) c.3509T= (p.Ile1170=) c.2243T= n.612-5608A= c.3155T= (p.Ile1052=) c.2798T= (p.Ile933=) | |
2 | g.166242587A>C | CA349070409 | SCN1A-AS1,SCN9A | c.3542T>G (p.Ile1181Ser) c.3509T>G (p.Ile1170Ser) c.2243T>G n.612-5608A>C c.3155T>G (p.Ile1052Ser) c.2798T>G (p.Ile933Ser) | |
2 | g.166242587A>G | CA349070410 | SCN1A-AS1,SCN9A | c.3542T>C (p.Ile1181Thr) c.3509T>C (p.Ile1170Thr) c.2243T>C n.612-5608A>G c.3155T>C (p.Ile1052Thr) c.2798T>C (p.Ile933Thr) | |
2 | g.166242587A>T | CA349070406 | SCN1A-AS1,SCN9A | c.3542T>A (p.Ile1181Asn) c.3509T>A (p.Ile1170Asn) c.2243T>A n.612-5608A>T c.3155T>A (p.Ile1052Asn) c.2798T>A (p.Ile933Asn) | ClinVar dbSNP |
2 | g.166242588T>A | CA349070413 | SCN1A-AS1,SCN9A | c.3541A>T (p.Ile1181Phe) c.3508A>T (p.Ile1170Phe) c.2242A>T n.612-5607T>A c.3154A>T (p.Ile1052Phe) c.2797A>T (p.Ile933Phe) | |
2 | g.166242588T>C | CA59814611 | SCN1A-AS1,SCN9A | c.3541A>G (p.Ile1181Val) c.3508A>G (p.Ile1170Val) c.2242A>G n.612-5607T>C c.3154A>G (p.Ile1052Val) c.2797A>G (p.Ile933Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166242588T>G | CA349070416 | SCN1A-AS1,SCN9A | c.3541A>C (p.Ile1181Leu) c.3508A>C (p.Ile1170Leu) c.2242A>C n.612-5607T>G c.3154A>C (p.Ile1052Leu) c.2797A>C (p.Ile933Leu) | |
2 | g.166242588T= | CA1304945653 | SCN1A-AS1,SCN9A | c.3541A= (p.Ile1181=) c.3508A= (p.Ile1170=) c.2242A= n.612-5607T= c.3154A= (p.Ile1052=) c.2797A= (p.Ile933=) | |
2 | g.166242589G>A | CA1944033 | SCN1A-AS1,SCN9A | c.3540C>T (p.Asn1180=) c.3507C>T (p.Asn1169=) c.2241C>T n.612-5606G>A c.3153C>T (p.Asn1051=) c.2796C>T (p.Asn932=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242589G>C | CA349070419 | SCN1A-AS1,SCN9A | c.3540C>G (p.Asn1180Lys) c.3507C>G (p.Asn1169Lys) c.2241C>G n.612-5606G>C c.3153C>G (p.Asn1051Lys) c.2796C>G (p.Asn932Lys) | |
2 | g.166242589G= | CA1304945654 | SCN1A-AS1,SCN9A | c.3540C= (p.Asn1180=) c.3507C= (p.Asn1169=) c.2241C= n.612-5606G= c.3153C= (p.Asn1051=) c.2796C= (p.Asn932=) | |
2 | g.166242589G>T | CA349070422 | SCN1A-AS1,SCN9A | c.3540C>A (p.Asn1180Lys) c.3507C>A (p.Asn1169Lys) c.2241C>A n.612-5606G>T c.3153C>A (p.Asn1051Lys) c.2796C>A (p.Asn932Lys) | gnomAD v4 |
2 | g.166242590T>A | CA349070423 | SCN1A-AS1,SCN9A | c.3539A>T (p.Asn1180Ile) c.3506A>T (p.Asn1169Ile) c.2240A>T n.612-5605T>A c.3152A>T (p.Asn1051Ile) c.2795A>T (p.Asn932Ile) | |
2 | g.166242590T>C | CA59814614 | SCN1A-AS1,SCN9A | c.3539A>G (p.Asn1180Ser) c.3506A>G (p.Asn1169Ser) c.2240A>G n.612-5605T>C c.3152A>G (p.Asn1051Ser) c.2795A>G (p.Asn932Ser) | dbSNP |
2 | g.166242590T>G | CA349070424 | SCN1A-AS1,SCN9A | c.3539A>C (p.Asn1180Thr) c.3506A>C (p.Asn1169Thr) c.2240A>C n.612-5605T>G c.3152A>C (p.Asn1051Thr) c.2795A>C (p.Asn932Thr) | |
2 | g.166242590T= | CA1304945658 | SCN1A-AS1,SCN9A | c.3539A= (p.Asn1180=) c.3506A= (p.Asn1169=) c.2240A= n.612-5605T= c.3152A= (p.Asn1051=) c.2795A= (p.Asn932=) | |
2 | g.166242591T>A | CA349070425 | SCN1A-AS1,SCN9A | c.3538A>T (p.Asn1180Tyr) c.3505A>T (p.Asn1169Tyr) c.2239A>T n.612-5604T>A c.3151A>T (p.Asn1051Tyr) c.2794A>T (p.Asn932Tyr) | |
2 | g.166242591T>C | CA1944034 | SCN1A-AS1,SCN9A | c.3538A>G (p.Asn1180Asp) c.3505A>G (p.Asn1169Asp) c.2239A>G n.612-5604T>C c.3151A>G (p.Asn1051Asp) c.2794A>G (p.Asn932Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242591T>G | CA349070426 | SCN1A-AS1,SCN9A | c.3538A>C (p.Asn1180His) c.3505A>C (p.Asn1169His) c.2239A>C n.612-5604T>G c.3151A>C (p.Asn1051His) c.2794A>C (p.Asn932His) | |
2 | g.166242591T= | CA1304945659 | SCN1A-AS1,SCN9A | c.3538A= (p.Asn1180=) c.3505A= (p.Asn1169=) c.2239A= n.612-5604T= c.3151A= (p.Asn1051=) c.2794A= (p.Asn932=) | |
2 | g.166242592C>A | CA349070428 | SCN1A-AS1,SCN9A | c.3537G>T (p.Trp1179Cys) c.3504G>T (p.Trp1168Cys) c.2238G>T n.612-5603C>A c.3150G>T (p.Trp1050Cys) c.2793G>T (p.Trp931Cys) | |
2 | g.166242592C= | CA1304945661 | SCN1A-AS1,SCN9A | c.3537G= (p.Trp1179=) c.3504G= (p.Trp1168=) c.2238G= n.612-5603C= c.3150G= (p.Trp1050=) c.2793G= (p.Trp931=) | |
2 | g.166242592C>G | CA349070430 | SCN1A-AS1,SCN9A | c.3537G>C (p.Trp1179Cys) c.3504G>C (p.Trp1168Cys) c.2238G>C n.612-5603C>G c.3150G>C (p.Trp1050Cys) c.2793G>C (p.Trp931Cys) | |
2 | g.166242592C>T | CA349070432 | SCN1A-AS1,SCN9A | c.3537G>A (p.Trp1179Ter) c.3504G>A (p.Trp1168Ter) c.2238G>A n.612-5603C>T c.3150G>A (p.Trp1050Ter) c.2793G>A (p.Trp931Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166242593C>A | CA349070438 | SCN1A-AS1,SCN9A | c.3536G>T (p.Trp1179Leu) c.3503G>T (p.Trp1168Leu) c.2237G>T n.612-5602C>A c.3149G>T (p.Trp1050Leu) c.2792G>T (p.Trp931Leu) | |
2 | g.166242593C>G | CA349070435 | SCN1A-AS1,SCN9A | c.3536G>C (p.Trp1179Ser) c.3503G>C (p.Trp1168Ser) c.2237G>C n.612-5602C>G c.3149G>C (p.Trp1050Ser) c.2792G>C (p.Trp931Ser) | |
2 | g.166242593C>T | CA349070437 | SCN1A-AS1,SCN9A | c.3536G>A (p.Trp1179Ter) c.3503G>A (p.Trp1168Ter) c.2237G>A n.612-5602C>T c.3149G>A (p.Trp1050Ter) c.2792G>A (p.Trp931Ter) | ClinVar |
2 | g.166242594A= | CA1304945662 | SCN1A-AS1,SCN9A | c.3535T= (p.Trp1179=) c.3502T= (p.Trp1168=) c.2236T= n.612-5601A= c.3148T= (p.Trp1050=) c.2791T= (p.Trp931=) | |
2 | g.166242594A>C | CA349070440 | SCN1A-AS1,SCN9A | c.3535T>G (p.Trp1179Gly) c.3502T>G (p.Trp1168Gly) c.2236T>G n.612-5601A>C c.3148T>G (p.Trp1050Gly) c.2791T>G (p.Trp931Gly) | |
2 | g.166242594A>G | CA349070442 | SCN1A-AS1,SCN9A | c.3535T>C (p.Trp1179Arg) c.3502T>C (p.Trp1168Arg) c.2236T>C n.612-5601A>G c.3148T>C (p.Trp1050Arg) c.2791T>C (p.Trp931Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166242594A>T | CA349070444 | SCN1A-AS1,SCN9A | c.3535T>A (p.Trp1179Arg) c.3502T>A (p.Trp1168Arg) c.2236T>A n.612-5601A>T c.3148T>A (p.Trp1050Arg) c.2791T>A (p.Trp931Arg) | |
2 | g.166242595C>A | CA1944035 | SCN1A-AS1,SCN9A | c.3534G>T (p.Trp1178Cys) c.3501G>T (p.Trp1167Cys) c.2235G>T n.612-5600C>A c.3147G>T (p.Trp1049Cys) c.2790G>T (p.Trp930Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166242595C= | CA1304945667 | SCN1A-AS1,SCN9A | c.3534G= (p.Trp1178=) c.3501G= (p.Trp1167=) c.2235G= n.612-5600C= c.3147G= (p.Trp1049=) c.2790G= (p.Trp930=) | |
2 | g.166242595C>G | CA349070448 | SCN1A-AS1,SCN9A | c.3534G>C (p.Trp1178Cys) c.3501G>C (p.Trp1167Cys) c.2235G>C n.612-5600C>G c.3147G>C (p.Trp1049Cys) c.2790G>C (p.Trp930Cys) | |
2 | g.166242595C>T | CA349070451 | SCN1A-AS1,SCN9A | c.3534G>A (p.Trp1178Ter) c.3501G>A (p.Trp1167Ter) c.2235G>A n.612-5600C>T c.3147G>A (p.Trp1049Ter) c.2790G>A (p.Trp930Ter) | dbSNP |
2 | g.166242596C>A | CA349070453 | SCN1A-AS1,SCN9A | c.3533G>T (p.Trp1178Leu) c.3500G>T (p.Trp1167Leu) c.2234G>T n.612-5599C>A c.3146G>T (p.Trp1049Leu) c.2789G>T (p.Trp930Leu) | dbSNP |
2 | g.166242596C= | CA1304945668 | SCN1A-AS1,SCN9A | c.3533G= (p.Trp1178=) c.3500G= (p.Trp1167=) c.2234G= n.612-5599C= c.3146G= (p.Trp1049=) c.2789G= (p.Trp930=) | |
2 | g.166242596C>G | CA349070456 | SCN1A-AS1,SCN9A | c.3533G>C (p.Trp1178Ser) c.3500G>C (p.Trp1167Ser) c.2234G>C n.612-5599C>G c.3146G>C (p.Trp1049Ser) c.2789G>C (p.Trp930Ser) | |
2 | g.166242596C>T | CA349070459 | SCN1A-AS1,SCN9A | c.3533G>A (p.Trp1178Ter) c.3500G>A (p.Trp1167Ter) c.2234G>A n.612-5599C>T c.3146G>A (p.Trp1049Ter) c.2789G>A (p.Trp930Ter) | |
2 | g.166242597A>C | CA349070463 | SCN1A-AS1,SCN9A | c.3532T>G (p.Trp1178Gly) c.3499T>G (p.Trp1167Gly) c.2233T>G n.612-5598A>C c.3145T>G (p.Trp1049Gly) c.2788T>G (p.Trp930Gly) | |
2 | g.166242597A>G | CA349070464 | SCN1A-AS1,SCN9A | c.3532T>C (p.Trp1178Arg) c.3499T>C (p.Trp1167Arg) c.2233T>C n.612-5598A>G c.3145T>C (p.Trp1049Arg) c.2788T>C (p.Trp930Arg) | |
2 | g.166242597A>T | CA349070466 | SCN1A-AS1,SCN9A | c.3532T>A (p.Trp1178Arg) c.3499T>A (p.Trp1167Arg) c.2233T>A n.612-5598A>T c.3145T>A (p.Trp1049Arg) c.2788T>A (p.Trp930Arg) | |
2 | g.166242598G>A | CA429901359 | SCN1A-AS1,SCN9A | c.3531C>T (p.Ile1177=) c.3498C>T (p.Ile1166=) c.2232C>T n.612-5597G>A c.3144C>T (p.Ile1048=) c.2787C>T (p.Ile929=) | |
2 | g.166242598G>C | CA349070470 | SCN1A-AS1,SCN9A | c.3531C>G (p.Ile1177Met) c.3498C>G (p.Ile1166Met) c.2232C>G n.612-5597G>C c.3144C>G (p.Ile1048Met) c.2787C>G (p.Ile929Met) | |
2 | g.166242598G= | CA1304945669 | SCN1A-AS1,SCN9A | c.3531C= (p.Ile1177=) c.3498C= (p.Ile1166=) c.2232C= n.612-5597G= c.3144C= (p.Ile1048=) c.2787C= (p.Ile929=) | |
2 | g.166242598G>T | CA59814618 | SCN1A-AS1,SCN9A | c.3531C>A (p.Ile1177=) c.3498C>A (p.Ile1166=) c.2232C>A n.612-5597G>T c.3144C>A (p.Ile1048=) c.2787C>A (p.Ile929=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242599A>C | CA349070473 | SCN1A-AS1,SCN9A | c.3530T>G (p.Ile1177Ser) c.3497T>G (p.Ile1166Ser) c.2231T>G n.612-5596A>C c.3143T>G (p.Ile1048Ser) c.2786T>G (p.Ile929Ser) | |
2 | g.166242599A>G | CA349070471 | SCN1A-AS1,SCN9A | c.3530T>C (p.Ile1177Thr) c.3497T>C (p.Ile1166Thr) c.2231T>C n.612-5596A>G c.3143T>C (p.Ile1048Thr) c.2786T>C (p.Ile929Thr) | |
2 | g.166242599A>T | CA349070472 | SCN1A-AS1,SCN9A | c.3530T>A (p.Ile1177Asn) c.3497T>A (p.Ile1166Asn) c.2231T>A n.612-5596A>T c.3143T>A (p.Ile1048Asn) c.2786T>A (p.Ile929Asn) | |
2 | g.166242600T>A | CA349070475 | SCN1A-AS1,SCN9A | c.3529A>T (p.Ile1177Phe) c.3496A>T (p.Ile1166Phe) c.2230A>T n.612-5595T>A c.3142A>T (p.Ile1048Phe) c.2785A>T (p.Ile929Phe) | dbSNP |
2 | g.166242600T>C | CA349070478 | SCN1A-AS1,SCN9A | c.3529A>G (p.Ile1177Val) c.3496A>G (p.Ile1166Val) c.2230A>G n.612-5595T>C c.3142A>G (p.Ile1048Val) c.2785A>G (p.Ile929Val) | |
2 | g.166242600T>G | CA349070479 | SCN1A-AS1,SCN9A | c.3529A>C (p.Ile1177Leu) c.3496A>C (p.Ile1166Leu) c.2230A>C n.612-5595T>G c.3142A>C (p.Ile1048Leu) c.2785A>C (p.Ile929Leu) | |
2 | g.166242600T= | CA1304945671 | SCN1A-AS1,SCN9A | c.3529A= (p.Ile1177=) c.3496A= (p.Ile1166=) c.2230A= n.612-5595T= c.3142A= (p.Ile1048=) c.2785A= (p.Ile929=) | |
2 | g.166242601T>A | CA349070481 | SCN1A-AS1,SCN9A | c.3528A>T (p.Lys1176Asn) c.3495A>T (p.Lys1165Asn) c.2229A>T n.612-5594T>A c.3141A>T (p.Lys1047Asn) c.2784A>T (p.Lys928Asn) | |
2 | g.166242601T>C | CA429901364 | SCN1A-AS1,SCN9A | c.3528A>G (p.Lys1176=) c.3495A>G (p.Lys1165=) c.2229A>G n.612-5594T>C c.3141A>G (p.Lys1047=) c.2784A>G (p.Lys928=) | |
2 | g.166242601T>G | CA349070482 | SCN1A-AS1,SCN9A | c.3528A>C (p.Lys1176Asn) c.3495A>C (p.Lys1165Asn) c.2229A>C n.612-5594T>G c.3141A>C (p.Lys1047Asn) c.2784A>C (p.Lys928Asn) | gnomAD v4 |
2 | g.166242602T>A | CA349070491 | SCN1A-AS1,SCN9A | c.3527A>T (p.Lys1176Ile) c.3494A>T (p.Lys1165Ile) c.2228A>T n.612-5593T>A c.3140A>T (p.Lys1047Ile) c.2783A>T (p.Lys928Ile) | |
2 | g.166242602T>C | CA349070493 | SCN1A-AS1,SCN9A | c.3527A>G (p.Lys1176Arg) c.3494A>G (p.Lys1165Arg) c.2228A>G n.612-5593T>C c.3140A>G (p.Lys1047Arg) c.2783A>G (p.Lys928Arg) | |
2 | g.166242602T>G | CA349070495 | SCN1A-AS1,SCN9A | c.3527A>C (p.Lys1176Thr) c.3494A>C (p.Lys1165Thr) c.2228A>C n.612-5593T>G c.3140A>C (p.Lys1047Thr) c.2783A>C (p.Lys928Thr) | |
2 | g.166242603T>A | CA349070498 | SCN1A-AS1,SCN9A | c.3526A>T (p.Lys1176Ter) c.3493A>T (p.Lys1165Ter) c.2227A>T n.612-5592T>A c.3139A>T (p.Lys1047Ter) c.2782A>T (p.Lys928Ter) | dbSNP |
2 | g.166242603T>C | CA349070501 | SCN1A-AS1,SCN9A | c.3526A>G (p.Lys1176Glu) c.3493A>G (p.Lys1165Glu) c.2227A>G n.612-5592T>C c.3139A>G (p.Lys1047Glu) c.2782A>G (p.Lys928Glu) | |
2 | g.166242603T>G | CA349070503 | SCN1A-AS1,SCN9A | c.3526A>C (p.Lys1176Gln) c.3493A>C (p.Lys1165Gln) c.2227A>C n.612-5592T>G c.3139A>C (p.Lys1047Gln) c.2782A>C (p.Lys928Gln) | |
2 | g.166242603T= | CA1304945672 | SCN1A-AS1,SCN9A | c.3526A= (p.Lys1176=) c.3493A= (p.Lys1165=) c.2227A= n.612-5592T= c.3139A= (p.Lys1047=) c.2782A= (p.Lys928=) | |
2 | g.166242604T>A | CA429901365 | SCN1A-AS1,SCN9A | c.3525A>T (p.Gly1175=) c.3492A>T (p.Gly1164=) c.2226A>T n.612-5591T>A c.3138A>T (p.Gly1046=) c.2781A>T (p.Gly927=) | |
2 | g.166242604T>C | CA429901366 | SCN1A-AS1,SCN9A | c.3525A>G (p.Gly1175=) c.3492A>G (p.Gly1164=) c.2226A>G n.612-5591T>C c.3138A>G (p.Gly1046=) c.2781A>G (p.Gly927=) | |
2 | g.166242604T>G | CA429901369 | SCN1A-AS1,SCN9A | c.3525A>C (p.Gly1175=) c.3492A>C (p.Gly1164=) c.2226A>C n.612-5591T>G c.3138A>C (p.Gly1046=) c.2781A>C (p.Gly927=) | |
2 | g.166242605C>A | CA349070518 | SCN1A-AS1,SCN9A | c.3524G>T (p.Gly1175Val) c.3491G>T (p.Gly1164Val) c.2225G>T n.612-5590C>A c.3137G>T (p.Gly1046Val) c.2780G>T (p.Gly927Val) | gnomAD v4 |
2 | g.166242605C>G | CA349070506 | SCN1A-AS1,SCN9A | c.3524G>C (p.Gly1175Ala) c.3491G>C (p.Gly1164Ala) c.2225G>C n.612-5590C>G c.3137G>C (p.Gly1046Ala) c.2780G>C (p.Gly927Ala) | |
2 | g.166242605C>T | CA349070516 | SCN1A-AS1,SCN9A | c.3524G>A (p.Gly1175Glu) c.3491G>A (p.Gly1164Glu) c.2225G>A n.612-5590C>T c.3137G>A (p.Gly1046Glu) c.2780G>A (p.Gly927Glu) | gnomAD v4 COSMIC COSMIC |
2 | g.166242606C>A | CA349070523 | SCN1A-AS1,SCN9A | c.3523G>T (p.Gly1175Ter) c.3490G>T (p.Gly1164Ter) c.2224G>T n.612-5589C>A c.3136G>T (p.Gly1046Ter) c.2779G>T (p.Gly927Ter) | dbSNP |
2 | g.166242606C= | CA1304945673 | SCN1A-AS1,SCN9A | c.3523G= (p.Gly1175=) c.3490G= (p.Gly1164=) c.2224G= n.612-5589C= c.3136G= (p.Gly1046=) c.2779G= (p.Gly927=) | |
2 | g.166242606C>G | CA349070524 | SCN1A-AS1,SCN9A | c.3523G>C (p.Gly1175Arg) c.3490G>C (p.Gly1164Arg) c.2224G>C n.612-5589C>G c.3136G>C (p.Gly1046Arg) c.2779G>C (p.Gly927Arg) | |
2 | g.166242606C>T | CA349070527 | SCN1A-AS1,SCN9A | c.3523G>A (p.Gly1175Arg) c.3490G>A (p.Gly1164Arg) c.2224G>A n.612-5589C>T c.3136G>A (p.Gly1046Arg) c.2779G>A (p.Gly927Arg) | |
2 | g.166242607T>A | CA349070532 | SCN1A-AS1,SCN9A | c.3522A>T (p.Lys1174Asn) c.3489A>T (p.Lys1163Asn) c.2223A>T n.612-5588T>A c.3135A>T (p.Lys1045Asn) c.2778A>T (p.Lys926Asn) | |
2 | g.166242607T>C | CA429901372 | SCN1A-AS1,SCN9A | c.3522A>G (p.Lys1174=) c.3489A>G (p.Lys1163=) c.2223A>G n.612-5588T>C c.3135A>G (p.Lys1045=) c.2778A>G (p.Lys926=) | gnomAD v4 |
2 | g.166242607T>G | CA349070534 | SCN1A-AS1,SCN9A | c.3522A>C (p.Lys1174Asn) c.3489A>C (p.Lys1163Asn) c.2223A>C n.612-5588T>G c.3135A>C (p.Lys1045Asn) c.2778A>C (p.Lys926Asn) | COSMIC COSMIC |
2 | g.166242608T>A | CA349070537 | SCN1A-AS1,SCN9A | c.3521A>T (p.Lys1174Ile) c.3488A>T (p.Lys1163Ile) c.2222A>T n.612-5587T>A c.3134A>T (p.Lys1045Ile) c.2777A>T (p.Lys926Ile) | |
2 | g.166242608T>C | CA349070540 | SCN1A-AS1,SCN9A | c.3521A>G (p.Lys1174Arg) c.3488A>G (p.Lys1163Arg) c.2222A>G n.612-5587T>C c.3134A>G (p.Lys1045Arg) c.2777A>G (p.Lys926Arg) | |
2 | g.166242608T>G | CA349070544 | SCN1A-AS1,SCN9A | c.3521A>C (p.Lys1174Thr) c.3488A>C (p.Lys1163Thr) c.2222A>C n.612-5587T>G c.3134A>C (p.Lys1045Thr) c.2777A>C (p.Lys926Thr) | |
2 | g.166242609T>A | CA349070546 | SCN1A-AS1,SCN9A | c.3520A>T (p.Lys1174Ter) c.3487A>T (p.Lys1163Ter) c.2221A>T n.612-5586T>A c.3133A>T (p.Lys1045Ter) c.2776A>T (p.Lys926Ter) | dbSNP |
2 | g.166242609T>C | CA349070549 | SCN1A-AS1,SCN9A | c.3520A>G (p.Lys1174Glu) c.3487A>G (p.Lys1163Glu) c.2221A>G n.612-5586T>C c.3133A>G (p.Lys1045Glu) c.2776A>G (p.Lys926Glu) | |
2 | g.166242609T>G | CA349070553 | SCN1A-AS1,SCN9A | c.3520A>C (p.Lys1174Gln) c.3487A>C (p.Lys1163Gln) c.2221A>C n.612-5586T>G c.3133A>C (p.Lys1045Gln) c.2776A>C (p.Lys926Gln) | |
2 | g.166242609T= | CA1304945674 | SCN1A-AS1,SCN9A | c.3520A= (p.Lys1174=) c.3487A= (p.Lys1163=) c.2221A= n.612-5586T= c.3133A= (p.Lys1045=) c.2776A= (p.Lys926=) | |
2 | g.166242610C>A | CA429901374 | SCN1A-AS1,SCN9A | c.3519G>T (p.Gly1173=) c.3486G>T (p.Gly1162=) c.2220G>T n.612-5585C>A c.3132G>T (p.Gly1044=) c.2775G>T (p.Gly925=) | |
2 | g.166242610C= | CA1304945676 | SCN1A-AS1,SCN9A | c.3519G= (p.Gly1173=) c.3486G= (p.Gly1162=) c.2220G= n.612-5585C= c.3132G= (p.Gly1044=) c.2775G= (p.Gly925=) | |
2 | g.166242610C>G | CA429901375 | SCN1A-AS1,SCN9A | c.3519G>C (p.Gly1173=) c.3486G>C (p.Gly1162=) c.2220G>C n.612-5585C>G c.3132G>C (p.Gly1044=) c.2775G>C (p.Gly925=) | ClinVar dbSNP gnomAD v4 |
2 | g.166242610C>T | CA429901376 | SCN1A-AS1,SCN9A | c.3519G>A (p.Gly1173=) c.3486G>A (p.Gly1162=) c.2220G>A n.612-5585C>T c.3132G>A (p.Gly1044=) c.2775G>A (p.Gly925=) | gnomAD v4 COSMIC COSMIC |
2 | g.166242611C>A | CA349070556 | SCN1A-AS1,SCN9A | c.3518G>T (p.Gly1173Val) c.3485G>T (p.Gly1162Val) c.2219G>T n.612-5584C>A c.3131G>T (p.Gly1044Val) c.2774G>T (p.Gly925Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242611C= | CA1304945681 | SCN1A-AS1,SCN9A | c.3518G= (p.Gly1173=) c.3485G= (p.Gly1162=) c.2219G= n.612-5584C= c.3131G= (p.Gly1044=) c.2774G= (p.Gly925=) | |
2 | g.166242611C>G | CA1944036 | SCN1A-AS1,SCN9A | c.3518G>C (p.Gly1173Ala) c.3485G>C (p.Gly1162Ala) c.2219G>C n.612-5584C>G c.3131G>C (p.Gly1044Ala) c.2774G>C (p.Gly925Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242611C>T | CA349070559 | SCN1A-AS1,SCN9A | c.3518G>A (p.Gly1173Glu) c.3485G>A (p.Gly1162Glu) c.2219G>A n.612-5584C>T c.3131G>A (p.Gly1044Glu) c.2774G>A (p.Gly925Glu) | |
2 | g.166242612C>A | CA349070565 | SCN1A-AS1,SCN9A | c.3517G>T (p.Gly1173Trp) c.3484G>T (p.Gly1162Trp) c.2218G>T n.612-5583C>A c.3130G>T (p.Gly1044Trp) c.2773G>T (p.Gly925Trp) | |
2 | g.166242612C>G | CA349070570 | SCN1A-AS1,SCN9A | c.3517G>C (p.Gly1173Arg) c.3484G>C (p.Gly1162Arg) c.2218G>C n.612-5583C>G c.3130G>C (p.Gly1044Arg) c.2773G>C (p.Gly925Arg) | |
2 | g.166242612C>T | CA349070568 | SCN1A-AS1,SCN9A | c.3517G>A (p.Gly1173Arg) c.3484G>A (p.Gly1162Arg) c.2218G>A n.612-5583C>T c.3130G>A (p.Gly1044Arg) c.2773G>A (p.Gly925Arg) | |
2 | g.166242613T>A | CA429901380 | SCN1A-AS1,SCN9A | c.3516A>T (p.Ser1172=) c.3483A>T (p.Ser1161=) c.2217A>T n.612-5582T>A c.3129A>T (p.Ser1043=) c.2772A>T (p.Ser924=) | |
2 | g.166242613T>C | CA429901379 | SCN1A-AS1,SCN9A | c.3516A>G (p.Ser1172=) c.3483A>G (p.Ser1161=) c.2217A>G n.612-5582T>C c.3129A>G (p.Ser1043=) c.2772A>G (p.Ser924=) | gnomAD v4 |
2 | g.166242613T>G | CA429901378 | SCN1A-AS1,SCN9A | c.3516A>C (p.Ser1172=) c.3483A>C (p.Ser1161=) c.2217A>C n.612-5582T>G c.3129A>C (p.Ser1043=) c.2772A>C (p.Ser924=) | |
2 | g.166242614G>A | CA349070574 | SCN1A-AS1,SCN9A | c.3515C>T (p.Ser1172Leu) c.3482C>T (p.Ser1161Leu) c.2216C>T n.612-5581G>A c.3128C>T (p.Ser1043Leu) c.2771C>T (p.Ser924Leu) | |
2 | g.166242614G>C | CA349070578 | SCN1A-AS1,SCN9A | c.3515C>G (p.Ser1172Ter) c.3482C>G (p.Ser1161Ter) c.2216C>G n.612-5581G>C c.3128C>G (p.Ser1043Ter) c.2771C>G (p.Ser924Ter) | |
2 | g.166242614G>T | CA349070575 | SCN1A-AS1,SCN9A | c.3515C>A (p.Ser1172Ter) c.3482C>A (p.Ser1161Ter) c.2216C>A n.612-5581G>T c.3128C>A (p.Ser1043Ter) c.2771C>A (p.Ser924Ter) | |
2 | g.166242615A= | CA1304945683 | SCN1A-AS1,SCN9A | c.3514T= (p.Ser1172=) c.3481T= (p.Ser1161=) c.2215T= n.612-5580A= c.3127T= (p.Ser1043=) c.2770T= (p.Ser924=) | |
2 | g.166242615A>C | CA349070582 | SCN1A-AS1,SCN9A | c.3514T>G (p.Ser1172Ala) c.3481T>G (p.Ser1161Ala) c.2215T>G n.612-5580A>C c.3127T>G (p.Ser1043Ala) c.2770T>G (p.Ser924Ala) | |
2 | g.166242615A>G | CA349070586 | SCN1A-AS1,SCN9A | c.3514T>C (p.Ser1172Pro) c.3481T>C (p.Ser1161Pro) c.2215T>C n.612-5580A>G c.3127T>C (p.Ser1043Pro) c.2770T>C (p.Ser924Pro) | ClinVar dbSNP |
2 | g.166242615A>T | CA349070583 | SCN1A-AS1,SCN9A | c.3514T>A (p.Ser1172Thr) c.3481T>A (p.Ser1161Thr) c.2215T>A n.612-5580A>T c.3127T>A (p.Ser1043Thr) c.2770T>A (p.Ser924Thr) | |
2 | g.166242616C>A | CA349070588 | SCN1A-AS1,SCN9A | c.3513G>T (p.Glu1171Asp) c.3480G>T (p.Glu1160Asp) c.2214G>T n.612-5579C>A c.3126G>T (p.Glu1042Asp) c.2769G>T (p.Glu923Asp) | |
2 | g.166242616C>G | CA349070590 | SCN1A-AS1,SCN9A | c.3513G>C (p.Glu1171Asp) c.3480G>C (p.Glu1160Asp) c.2214G>C n.612-5579C>G c.3126G>C (p.Glu1042Asp) c.2769G>C (p.Glu923Asp) | |
2 | g.166242616C>T | CA429901385 | SCN1A-AS1,SCN9A | c.3513G>A (p.Glu1171=) c.3480G>A (p.Glu1160=) c.2214G>A n.612-5579C>T c.3126G>A (p.Glu1042=) c.2769G>A (p.Glu923=) | |
2 | g.166242617T>A | CA349070593 | SCN1A-AS1,SCN9A | c.3512A>T (p.Glu1171Val) c.3479A>T (p.Glu1160Val) c.2213A>T n.612-5578T>A c.3125A>T (p.Glu1042Val) c.2768A>T (p.Glu923Val) | |
2 | g.166242617T>C | CA59814621 | SCN1A-AS1,SCN9A | c.3512A>G (p.Glu1171Gly) c.3479A>G (p.Glu1160Gly) c.2213A>G n.612-5578T>C c.3125A>G (p.Glu1042Gly) c.2768A>G (p.Glu923Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242617T>G | CA349070594 | SCN1A-AS1,SCN9A | c.3512A>C (p.Glu1171Ala) c.3479A>C (p.Glu1160Ala) c.2213A>C n.612-5578T>G c.3125A>C (p.Glu1042Ala) c.2768A>C (p.Glu923Ala) | |
2 | g.166242617T= | CA1304945684 | SCN1A-AS1,SCN9A | c.3512A= (p.Glu1171=) c.3479A= (p.Glu1160=) c.2213A= n.612-5578T= c.3125A= (p.Glu1042=) c.2768A= (p.Glu923=) | |
2 | g.166242618C>A | CA349070595 | SCN1A-AS1,SCN9A | c.3511G>T (p.Glu1171Ter) c.3478G>T (p.Glu1160Ter) c.2212G>T n.612-5577C>A c.3124G>T (p.Glu1042Ter) c.2767G>T (p.Glu923Ter) | dbSNP |
2 | g.166242618C= | CA1304945686 | SCN1A-AS1,SCN9A | c.3511G= (p.Glu1171=) c.3478G= (p.Glu1160=) c.2212G= n.612-5577C= c.3124G= (p.Glu1042=) c.2767G= (p.Glu923=) | |
2 | g.166242618C>G | CA349070596 | SCN1A-AS1,SCN9A | c.3511G>C (p.Glu1171Gln) c.3478G>C (p.Glu1160Gln) c.2212G>C n.612-5577C>G c.3124G>C (p.Glu1042Gln) c.2767G>C (p.Glu923Gln) | |
2 | g.166242618C>T | CA349070598 | SCN1A-AS1,SCN9A | c.3511G>A (p.Glu1171Lys) c.3478G>A (p.Glu1160Lys) c.2212G>A n.612-5577C>T c.3124G>A (p.Glu1042Lys) c.2767G>A (p.Glu923Lys) | |
2 | g.166242618_166242620delinsCTA | CA1304945685 | SCN1A-AS1,SCN9A | c.3509_3511delinsTAG (p.Ile1170=) c.3476_3478delinsTAG (p.Ile1159=) c.2210_2212delinsTAG n.612-5577_612-5575delinsCTA c.3122_3124delinsTAG (p.Ile1041=) c.2765_2767delinsTAG (p.Ile922=) | |
2 | g.166242619T>A | CA429901386 | SCN1A-AS1,SCN9A | c.3510A>T (p.Ile1170=) c.3477A>T (p.Ile1159=) c.2211A>T n.612-5576T>A c.3123A>T (p.Ile1041=) c.2766A>T (p.Ile922=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166242619T>C | CA349070600 | SCN1A-AS1,SCN9A | c.3510A>G (p.Ile1170Met) c.3477A>G (p.Ile1159Met) c.2211A>G n.612-5576T>C c.3123A>G (p.Ile1041Met) c.2766A>G (p.Ile922Met) | dbSNP |
2 | g.166242619T>G | CA429901387 | SCN1A-AS1,SCN9A | c.3510A>C (p.Ile1170=) c.3477A>C (p.Ile1159=) c.2211A>C n.612-5576T>G c.3123A>C (p.Ile1041=) c.2766A>C (p.Ile922=) | |
2 | g.166242619T= | CA1304945687 | SCN1A-AS1,SCN9A | c.3510A= (p.Ile1170=) c.3477A= (p.Ile1159=) c.2211A= n.612-5576T= c.3123A= (p.Ile1041=) c.2766A= (p.Ile922=) | |
2 | g.166242620_166242621del | CA537511935 | SCN1A-AS1,SCN9A | c.3509_3510del (p.Ile1170ArgfsTer20) c.3476_3477del (p.Ile1159ArgfsTer20) c.2210_2211del n.612-5575_612-5574del c.3122_3123del (p.Ile1041ArgfsTer20) c.2765_2766del (p.Ile922ArgfsTer20) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242620A= | CA1304945688 | SCN1A-AS1,SCN9A | c.3509T= (p.Ile1170=) c.3476T= (p.Ile1159=) c.2210T= n.612-5575A= c.3122T= (p.Ile1041=) c.2765T= (p.Ile922=) | |
2 | g.166242620A>C | CA349070608 | SCN1A-AS1,SCN9A | c.3509T>G (p.Ile1170Arg) c.3476T>G (p.Ile1159Arg) c.2210T>G n.612-5575A>C c.3122T>G (p.Ile1041Arg) c.2765T>G (p.Ile922Arg) | |
2 | g.166242620A>G | CA231500 | SCN1A-AS1,SCN9A | c.3509T>C (p.Ile1170Thr) c.3476T>C (p.Ile1159Thr) c.2210T>C n.612-5575A>G c.3122T>C (p.Ile1041Thr) c.2765T>C (p.Ile922Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242620A>T | CA349070604 | SCN1A-AS1,SCN9A | c.3509T>A (p.Ile1170Lys) c.3476T>A (p.Ile1159Lys) c.2210T>A n.612-5575A>T c.3122T>A (p.Ile1041Lys) c.2765T>A (p.Ile922Lys) | |
2 | g.166242621T>A | CA349070609 | SCN1A-AS1,SCN9A | c.3508A>T (p.Ile1170Leu) c.3475A>T (p.Ile1159Leu) c.2209A>T n.612-5574T>A c.3121A>T (p.Ile1041Leu) c.2764A>T (p.Ile922Leu) | |
2 | g.166242621T>C | CA349070611 | SCN1A-AS1,SCN9A | c.3508A>G (p.Ile1170Val) c.3475A>G (p.Ile1159Val) c.2209A>G n.612-5574T>C c.3121A>G (p.Ile1041Val) c.2764A>G (p.Ile922Val) | |
2 | g.166242621T>G | CA349070614 | SCN1A-AS1,SCN9A | c.3508A>C (p.Ile1170Leu) c.3475A>C (p.Ile1159Leu) c.2209A>C n.612-5574T>G c.3121A>C (p.Ile1041Leu) c.2764A>C (p.Ile922Leu) | |
2 | g.166242622G>A | CA429901393 | SCN1A-AS1,SCN9A | c.3507C>T (p.Asn1169=) c.3474C>T (p.Asn1158=) c.2208C>T n.612-5573G>A c.3120C>T (p.Asn1040=) c.2763C>T (p.Asn921=) | |
2 | g.166242622G>C | CA349070618 | SCN1A-AS1,SCN9A | c.3507C>G (p.Asn1169Lys) c.3474C>G (p.Asn1158Lys) c.2208C>G n.612-5573G>C c.3120C>G (p.Asn1040Lys) c.2763C>G (p.Asn921Lys) | |
2 | g.166242622G>T | CA349070620 | SCN1A-AS1,SCN9A | c.3507C>A (p.Asn1169Lys) c.3474C>A (p.Asn1158Lys) c.2208C>A n.612-5573G>T c.3120C>A (p.Asn1040Lys) c.2763C>A (p.Asn921Lys) | |
2 | g.166242623T>A | CA349070623 | SCN1A-AS1,SCN9A | c.3506A>T (p.Asn1169Ile) c.3473A>T (p.Asn1158Ile) c.2207A>T n.612-5572T>A c.3119A>T (p.Asn1040Ile) c.2762A>T (p.Asn921Ile) | |
2 | g.166242623T>C | CA349070624 | SCN1A-AS1,SCN9A | c.3506A>G (p.Asn1169Ser) c.3473A>G (p.Asn1158Ser) c.2207A>G n.612-5572T>C c.3119A>G (p.Asn1040Ser) c.2762A>G (p.Asn921Ser) | |
2 | g.166242623T>G | CA201453 | SCN1A-AS1,SCN9A | c.3506A>C (p.Asn1169Thr) c.3473A>C (p.Asn1158Thr) c.2207A>C n.612-5572T>G c.3119A>C (p.Asn1040Thr) c.2762A>C (p.Asn921Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242623T= | CA1304945691 | SCN1A-AS1,SCN9A | c.3506A= (p.Asn1169=) c.3473A= (p.Asn1158=) c.2207A= n.612-5572T= c.3119A= (p.Asn1040=) c.2762A= (p.Asn921=) | |
2 | g.166242624T>A | CA349070630 | SCN1A-AS1,SCN9A | c.3505A>T (p.Asn1169Tyr) c.587A>T (n.587A>T) c.3472A>T (p.Asn1158Tyr) c.2206A>T n.612-5571T>A c.3118A>T (p.Asn1040Tyr) c.2761A>T (p.Asn921Tyr) | |
2 | g.166242624T>C | CA349070631 | SCN1A-AS1,SCN9A | c.3505A>G (p.Asn1169Asp) c.587A>G (n.587A>G) c.3472A>G (p.Asn1158Asp) c.2206A>G n.612-5571T>C c.3118A>G (p.Asn1040Asp) c.2761A>G (p.Asn921Asp) | |
2 | g.166242624T>G | CA349070634 | SCN1A-AS1,SCN9A | c.3505A>C (p.Asn1169His) c.587A>C (n.587A>C) c.3472A>C (p.Asn1158His) c.2206A>C n.612-5571T>G c.3118A>C (p.Asn1040His) c.2761A>C (p.Asn921His) | |
2 | g.166242625A>C | CA429901395 | SCN1A-AS1,SCN9A | c.3504T>G (p.Val1168=) c.586T>G (n.586T>G) c.3471T>G (p.Val1157=) c.2205T>G n.612-5570A>C c.3117T>G (p.Val1039=) c.2760T>G (p.Val920=) | |
2 | g.166242625A>G | CA429901397 | SCN1A-AS1,SCN9A | c.3504T>C (p.Val1168=) c.586T>C (n.586T>C) c.3471T>C (p.Val1157=) c.2205T>C n.612-5570A>G c.3117T>C (p.Val1039=) c.2760T>C (p.Val920=) | |
2 | g.166242625A>T | CA429901399 | SCN1A-AS1,SCN9A | c.3504T>A (p.Val1168=) c.586T>A (n.586T>A) c.3471T>A (p.Val1157=) c.2205T>A n.612-5570A>T c.3117T>A (p.Val1039=) c.2760T>A (p.Val920=) | |
2 | g.166242626A>C | CA349070639 | SCN1A-AS1,SCN9A | c.3503T>G (p.Val1168Gly) c.585T>G (n.585T>G) c.3470T>G (p.Val1157Gly) c.2204T>G n.612-5569A>C c.3116T>G (p.Val1039Gly) c.2759T>G (p.Val920Gly) | |
2 | g.166242626A>G | CA349070640 | SCN1A-AS1,SCN9A | c.3503T>C (p.Val1168Ala) c.585T>C (n.585T>C) c.3470T>C (p.Val1157Ala) c.2204T>C n.612-5569A>G c.3116T>C (p.Val1039Ala) c.2759T>C (p.Val920Ala) | |
2 | g.166242626A>T | CA349070637 | SCN1A-AS1,SCN9A | c.3503T>A (p.Val1168Asp) c.585T>A (n.585T>A) c.3470T>A (p.Val1157Asp) c.2204T>A n.612-5569A>T c.3116T>A (p.Val1039Asp) c.2759T>A (p.Val920Asp) | |
2 | g.166242627C>A | CA349070643 | SCN1A-AS1,SCN9A | c.3502G>T (p.Val1168Phe) c.584G>T (n.584G>T) c.3469G>T (p.Val1157Phe) c.2203G>T n.612-5568C>A c.3115G>T (p.Val1039Phe) c.2758G>T (p.Val920Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242627C= | CA1304945694 | SCN1A-AS1,SCN9A | c.3502G= (p.Val1168=) c.584G= (n.584G=) c.3469G= (p.Val1157=) c.2203G= n.612-5568C= c.3115G= (p.Val1039=) c.2758G= (p.Val920=) | |
2 | g.166242627C>G | CA349070644 | SCN1A-AS1,SCN9A | c.3502G>C (p.Val1168Leu) c.584G>C (n.584G>C) c.3469G>C (p.Val1157Leu) c.2203G>C n.612-5568C>G c.3115G>C (p.Val1039Leu) c.2758G>C (p.Val920Leu) | |
2 | g.166242627C>T | CA349070647 | SCN1A-AS1,SCN9A | c.3502G>A (p.Val1168Ile) c.584G>A (n.584G>A) c.3469G>A (p.Val1157Ile) c.2203G>A n.612-5568C>T c.3115G>A (p.Val1039Ile) c.2758G>A (p.Val920Ile) | |
2 | g.166242628T>A | CA349070649 | SCN1A-AS1,SCN9A | c.3501A>T (p.Gln1167His) c.583A>T (n.583A>T) c.3468A>T (p.Gln1156His) c.2202A>T n.612-5567T>A c.3114A>T (p.Gln1038His) c.2757A>T (p.Gln919His) | gnomAD v4 |
2 | g.166242628T>C | CA429901405 | SCN1A-AS1,SCN9A | c.3501A>G (p.Gln1167=) c.583A>G (n.583A>G) c.3468A>G (p.Gln1156=) c.2202A>G n.612-5567T>C c.3114A>G (p.Gln1038=) c.2757A>G (p.Gln919=) | ClinVar dbSNP gnomAD v4 |
2 | g.166242628T>G | CA349070652 | SCN1A-AS1,SCN9A | c.3501A>C (p.Gln1167His) c.583A>C (n.583A>C) c.3468A>C (p.Gln1156His) c.2202A>C n.612-5567T>G c.3114A>C (p.Gln1038His) c.2757A>C (p.Gln919His) | |
2 | g.166242628T= | CA1304945695 | SCN1A-AS1,SCN9A | c.3501A= (p.Gln1167=) c.583A= (n.583A=) c.3468A= (p.Gln1156=) c.2202A= n.612-5567T= c.3114A= (p.Gln1038=) c.2757A= (p.Gln919=) | |
2 | g.166242629T>A | CA349070665 | SCN1A-AS1,SCN9A | c.3500A>T (p.Gln1167Leu) c.582A>T (n.582A>T) c.3467A>T (p.Gln1156Leu) c.2201A>T n.612-5566T>A c.3113A>T (p.Gln1038Leu) c.2756A>T (p.Gln919Leu) | |
2 | g.166242629T>C | CA349070662 | SCN1A-AS1,SCN9A | c.3500A>G (p.Gln1167Arg) c.582A>G (n.582A>G) c.3467A>G (p.Gln1156Arg) c.2201A>G n.612-5566T>C c.3113A>G (p.Gln1038Arg) c.2756A>G (p.Gln919Arg) | gnomAD v4 |
2 | g.166242629T>G | CA349070663 | SCN1A-AS1,SCN9A | c.3500A>C (p.Gln1167Pro) c.582A>C (n.582A>C) c.3467A>C (p.Gln1156Pro) c.2201A>C n.612-5566T>G c.3113A>C (p.Gln1038Pro) c.2756A>C (p.Gln919Pro) | |
2 | g.166242630G>A | CA349070666 | SCN1A-AS1,SCN9A | c.3499C>T (p.Gln1167Ter) c.581C>T (n.581C>T) c.3466C>T (p.Gln1156Ter) c.2200C>T n.612-5565G>A c.3112C>T (p.Gln1038Ter) c.2755C>T (p.Gln919Ter) | |
2 | g.166242630G>C | CA349070669 | SCN1A-AS1,SCN9A | c.3499C>G (p.Gln1167Glu) c.581C>G (n.581C>G) c.3466C>G (p.Gln1156Glu) c.2200C>G n.612-5565G>C c.3112C>G (p.Gln1038Glu) c.2755C>G (p.Gln919Glu) | |
2 | g.166242630G>T | CA349070670 | SCN1A-AS1,SCN9A | c.3499C>A (p.Gln1167Lys) c.581C>A (n.581C>A) c.3466C>A (p.Gln1156Lys) c.2200C>A n.612-5565G>T c.3112C>A (p.Gln1038Lys) c.2755C>A (p.Gln919Lys) | |
2 | g.166242631G>A | CA429901411 | SCN1A-AS1,SCN9A | c.3498C>T (p.Cys1166=) c.580C>T (n.580C>T) c.3465C>T (p.Cys1155=) c.2199C>T n.612-5564G>A c.3111C>T (p.Cys1037=) c.2754C>T (p.Cys918=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242631G>C | CA349070673 | SCN1A-AS1,SCN9A | c.3498C>G (p.Cys1166Trp) c.580C>G (n.580C>G) c.3465C>G (p.Cys1155Trp) c.2199C>G n.612-5564G>C c.3111C>G (p.Cys1037Trp) c.2754C>G (p.Cys918Trp) | |
2 | g.166242631G= | CA1304945696 | SCN1A-AS1,SCN9A | c.3498C= (p.Cys1166=) c.580C= (n.580C=) c.3465C= (p.Cys1155=) c.2199C= n.612-5564G= c.3111C= (p.Cys1037=) c.2754C= (p.Cys918=) | |
2 | g.166242631G>T | CA349070674 | SCN1A-AS1,SCN9A | c.3498C>A (p.Cys1166Ter) c.580C>A (n.580C>A) c.3465C>A (p.Cys1155Ter) c.2199C>A n.612-5564G>T c.3111C>A (p.Cys1037Ter) c.2754C>A (p.Cys918Ter) | dbSNP gnomAD v4 |
2 | g.166242632C>A | CA349070677 | SCN1A-AS1,SCN9A | c.3497G>T (p.Cys1166Phe) c.579G>T (n.579G>T) c.3464G>T (p.Cys1155Phe) c.2198G>T n.612-5563C>A c.3110G>T (p.Cys1037Phe) c.2753G>T (p.Cys918Phe) | |
2 | g.166242632C= | CA1304945698 | SCN1A-AS1,SCN9A | c.3497G= (p.Cys1166=) c.579G= (n.579G=) c.3464G= (p.Cys1155=) c.2198G= n.612-5563C= c.3110G= (p.Cys1037=) c.2753G= (p.Cys918=) | |
2 | g.166242632C>G | CA349070684 | SCN1A-AS1,SCN9A | c.3497G>C (p.Cys1166Ser) c.579G>C (n.579G>C) c.3464G>C (p.Cys1155Ser) c.2198G>C n.612-5563C>G c.3110G>C (p.Cys1037Ser) c.2753G>C (p.Cys918Ser) | |
2 | g.166242632C>T | CA1944037 | SCN1A-AS1,SCN9A | c.3497G>A (p.Cys1166Tyr) c.579G>A (n.579G>A) c.3464G>A (p.Cys1155Tyr) c.2198G>A n.612-5563C>T c.3110G>A (p.Cys1037Tyr) c.2753G>A (p.Cys918Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242633A>C | CA349070687 | SCN1A-AS1,SCN9A | c.3496T>G (p.Cys1166Gly) c.578T>G (n.578T>G) c.3463T>G (p.Cys1155Gly) c.2197T>G n.612-5562A>C c.3109T>G (p.Cys1037Gly) c.2752T>G (p.Cys918Gly) | gnomAD v4 |
2 | g.166242633A>G | CA349070689 | SCN1A-AS1,SCN9A | c.3496T>C (p.Cys1166Arg) c.578T>C (n.578T>C) c.3463T>C (p.Cys1155Arg) c.2197T>C n.612-5562A>G c.3109T>C (p.Cys1037Arg) c.2752T>C (p.Cys918Arg) | |
2 | g.166242633A>T | CA349070692 | SCN1A-AS1,SCN9A | c.3496T>A (p.Cys1166Ser) c.578T>A (n.578T>A) c.3463T>A (p.Cys1155Ser) c.2197T>A n.612-5562A>T c.3109T>A (p.Cys1037Ser) c.2752T>A (p.Cys918Ser) | |
2 | g.166242634G>A | CA429901413 | SCN1A-AS1,SCN9A | c.3495C>T (p.Cys1165=) c.577C>T (n.577C>T) c.3462C>T (p.Cys1154=) c.2196C>T n.612-5561G>A c.3108C>T (p.Cys1036=) c.2751C>T (p.Cys917=) | gnomAD v4 |
2 | g.166242634G>C | CA349070696 | SCN1A-AS1,SCN9A | c.3495C>G (p.Cys1165Trp) c.577C>G (n.577C>G) c.3462C>G (p.Cys1154Trp) c.2196C>G n.612-5561G>C c.3108C>G (p.Cys1036Trp) c.2751C>G (p.Cys917Trp) | |
2 | g.166242634G>T | CA349070699 | SCN1A-AS1,SCN9A | c.3495C>A (p.Cys1165Ter) c.577C>A (n.577C>A) c.3462C>A (p.Cys1154Ter) c.2196C>A n.612-5561G>T c.3108C>A (p.Cys1036Ter) c.2751C>A (p.Cys917Ter) | |
2 | g.166242635C>A | CA349070700 | SCN1A-AS1,SCN9A | c.3494G>T (p.Cys1165Phe) c.576G>T (n.576G>T) c.3461G>T (p.Cys1154Phe) c.2195G>T n.612-5560C>A c.3107G>T (p.Cys1036Phe) c.2750G>T (p.Cys917Phe) | gnomAD v4 |
2 | g.166242635C>G | CA349070703 | SCN1A-AS1,SCN9A | c.3494G>C (p.Cys1165Ser) c.576G>C (n.576G>C) c.3461G>C (p.Cys1154Ser) c.2195G>C n.612-5560C>G c.3107G>C (p.Cys1036Ser) c.2750G>C (p.Cys917Ser) | |
2 | g.166242635C>T | CA349070707 | SCN1A-AS1,SCN9A | c.3494G>A (p.Cys1165Tyr) c.576G>A (n.576G>A) c.3461G>A (p.Cys1154Tyr) c.2195G>A n.612-5560C>T c.3107G>A (p.Cys1036Tyr) c.2750G>A (p.Cys917Tyr) | gnomAD v4 |
2 | g.166242636A= | CA1304945701 | SCN1A-AS1,SCN9A | c.3493T= (p.Cys1165=) c.575T= (n.575T=) c.3460T= (p.Cys1154=) c.2194T= n.612-5559A= c.3106T= (p.Cys1036=) c.2749T= (p.Cys917=) | |
2 | g.166242636A>C | CA349070710 | SCN1A-AS1,SCN9A | c.3493T>G (p.Cys1165Gly) c.575T>G (n.575T>G) c.3460T>G (p.Cys1154Gly) c.2194T>G n.612-5559A>C c.3106T>G (p.Cys1036Gly) c.2749T>G (p.Cys917Gly) | |
2 | g.166242636A>G | CA349070711 | SCN1A-AS1,SCN9A | c.3493T>C (p.Cys1165Arg) c.575T>C (n.575T>C) c.3460T>C (p.Cys1154Arg) c.2194T>C n.612-5559A>G c.3106T>C (p.Cys1036Arg) c.2749T>C (p.Cys917Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166242636A>T | CA349070712 | SCN1A-AS1,SCN9A | c.3493T>A (p.Cys1165Ser) c.575T>A (n.575T>A) c.3460T>A (p.Cys1154Ser) c.2194T>A n.612-5559A>T c.3106T>A (p.Cys1036Ser) c.2749T>A (p.Cys917Ser) | |
2 | g.166242636dup | CA2753023285 | SCN1A-AS1,SCN9A | c.3493dup (p.Cys1165LeufsTer5) c.575dup (n.575dup) c.3460dup (p.Cys1154LeufsTer5) c.2194dup n.612-5559dup c.3106dup (p.Cys1036LeufsTer5) c.2749dup (p.Cys917LeufsTer5) | |
2 | g.166242637T>A | CA429901417 | SCN1A-AS1,SCN9A | c.3492A>T (p.Ser1164=) c.574A>T (n.574A>T) c.3459A>T (p.Ser1153=) c.2193A>T n.612-5558T>A c.3105A>T (p.Ser1035=) c.2748A>T (p.Ser916=) | |
2 | g.166242637T>C | CA429901418 | SCN1A-AS1,SCN9A | c.3492A>G (p.Ser1164=) c.574A>G (n.574A>G) c.3459A>G (p.Ser1153=) c.2193A>G n.612-5558T>C c.3105A>G (p.Ser1035=) c.2748A>G (p.Ser916=) | dbSNP gnomAD v4 |
2 | g.166242637T>G | CA429901419 | SCN1A-AS1,SCN9A | c.3492A>C (p.Ser1164=) c.574A>C (n.574A>C) c.3459A>C (p.Ser1153=) c.2193A>C n.612-5558T>G c.3105A>C (p.Ser1035=) c.2748A>C (p.Ser916=) | ClinVar dbSNP gnomAD v4 |
2 | g.166242637T= | CA1304945702 | SCN1A-AS1,SCN9A | c.3492A= (p.Ser1164=) c.574A= (n.574A=) c.3459A= (p.Ser1153=) c.2193A= n.612-5558T= c.3105A= (p.Ser1035=) c.2748A= (p.Ser916=) | |
2 | g.166242638G>A | CA349070718 | SCN1A-AS1,SCN9A | c.3491C>T (p.Ser1164Leu) c.573C>T (n.573C>T) c.3458C>T (p.Ser1153Leu) c.2192C>T n.612-5557G>A c.3104C>T (p.Ser1035Leu) c.2747C>T (p.Ser916Leu) | dbSNP gnomAD v4 |
2 | g.166242638G>C | CA349070721 | SCN1A-AS1,SCN9A | c.3491C>G (p.Ser1164Ter) c.573C>G (n.573C>G) c.3458C>G (p.Ser1153Ter) c.2192C>G n.612-5557G>C c.3104C>G (p.Ser1035Ter) c.2747C>G (p.Ser916Ter) | |
2 | g.166242638G= | CA1304945704 | SCN1A-AS1,SCN9A | c.3491C= (p.Ser1164=) c.573C= (n.573C=) c.3458C= (p.Ser1153=) c.2192C= n.612-5557G= c.3104C= (p.Ser1035=) c.2747C= (p.Ser916=) | |
2 | g.166242638G>T | CA349070715 | SCN1A-AS1,SCN9A | c.3491C>A (p.Ser1164Ter) c.573C>A (n.573C>A) c.3458C>A (p.Ser1153Ter) c.2192C>A n.612-5557G>T c.3104C>A (p.Ser1035Ter) c.2747C>A (p.Ser916Ter) | gnomAD v4 |
2 | g.166242639A>C | CA349070727 | SCN1A-AS1,SCN9A | c.3490T>G (p.Ser1164Ala) c.572T>G (n.572T>G) c.3457T>G (p.Ser1153Ala) c.2191T>G n.612-5556A>C c.3103T>G (p.Ser1035Ala) c.2746T>G (p.Ser916Ala) | |
2 | g.166242639A>G | CA349070723 | SCN1A-AS1,SCN9A | c.3490T>C (p.Ser1164Pro) c.572T>C (n.572T>C) c.3457T>C (p.Ser1153Pro) c.2191T>C n.612-5556A>G c.3103T>C (p.Ser1035Pro) c.2746T>C (p.Ser916Pro) | gnomAD v4 |
2 | g.166242639A>T | CA349070724 | SCN1A-AS1,SCN9A | c.3490T>A (p.Ser1164Thr) c.572T>A (n.572T>A) c.3457T>A (p.Ser1153Thr) c.2191T>A n.612-5556A>T c.3103T>A (p.Ser1035Thr) c.2746T>A (p.Ser916Thr) | gnomAD v4 |
2 | g.166242640G>A | CA429901421 | SCN1A-AS1,SCN9A | c.3489C>T (p.Phe1163=) c.571C>T (n.571C>T) c.3456C>T (p.Phe1152=) c.2190C>T n.612-5555G>A c.3102C>T (p.Phe1034=) c.2745C>T (p.Phe915=) | ClinVar dbSNP gnomAD v4 |
2 | g.166242640G>C | CA349070730 | SCN1A-AS1,SCN9A | c.3489C>G (p.Phe1163Leu) c.571C>G (n.571C>G) c.3456C>G (p.Phe1152Leu) c.2190C>G n.612-5555G>C c.3102C>G (p.Phe1034Leu) c.2745C>G (p.Phe915Leu) | |
2 | g.166242640G= | CA1304945707 | SCN1A-AS1,SCN9A | c.3489C= (p.Phe1163=) c.571C= (n.571C=) c.3456C= (p.Phe1152=) c.2190C= n.612-5555G= c.3102C= (p.Phe1034=) c.2745C= (p.Phe915=) | |
2 | g.166242640G>T | CA349070733 | SCN1A-AS1,SCN9A | c.3489C>A (p.Phe1163Leu) c.571C>A (n.571C>A) c.3456C>A (p.Phe1152Leu) c.2190C>A n.612-5555G>T c.3102C>A (p.Phe1034Leu) c.2745C>A (p.Phe915Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.166242641A>C | CA349070736 | SCN1A-AS1,SCN9A | c.3488T>G (p.Phe1163Cys) c.570T>G (n.570T>G) c.3455T>G (p.Phe1152Cys) c.2189T>G n.612-5554A>C c.3101T>G (p.Phe1034Cys) c.2744T>G (p.Phe915Cys) | |
2 | g.166242641A>G | CA349070738 | SCN1A-AS1,SCN9A | c.3488T>C (p.Phe1163Ser) c.570T>C (n.570T>C) c.3455T>C (p.Phe1152Ser) c.2189T>C n.612-5554A>G c.3101T>C (p.Phe1034Ser) c.2744T>C (p.Phe915Ser) | ClinVar |
2 | g.166242641A>T | CA349070739 | SCN1A-AS1,SCN9A | c.3488T>A (p.Phe1163Tyr) c.570T>A (n.570T>A) c.3455T>A (p.Phe1152Tyr) c.2189T>A n.612-5554A>T c.3101T>A (p.Phe1034Tyr) c.2744T>A (p.Phe915Tyr) | |
2 | g.166242642A>C | CA349070742 | SCN1A-AS1,SCN9A | c.3487T>G (p.Phe1163Val) c.569T>G (n.569T>G) c.3454T>G (p.Phe1152Val) c.2188T>G n.612-5553A>C c.3100T>G (p.Phe1034Val) c.2743T>G (p.Phe915Val) | |
2 | g.166242642A>G | CA349070745 | SCN1A-AS1,SCN9A | c.3487T>C (p.Phe1163Leu) c.569T>C (n.569T>C) c.3454T>C (p.Phe1152Leu) c.2188T>C n.612-5553A>G c.3100T>C (p.Phe1034Leu) c.2743T>C (p.Phe915Leu) | |
2 | g.166242642A>T | CA349070748 | SCN1A-AS1,SCN9A | c.3487T>A (p.Phe1163Ile) c.569T>A (n.569T>A) c.3454T>A (p.Phe1152Ile) c.2188T>A n.612-5553A>T c.3100T>A (p.Phe1034Ile) c.2743T>A (p.Phe915Ile) | |
2 | g.166242643C>A | CA349070752 | SCN1A-AS1,SCN9A | c.3486G>T (p.Arg1162Ser) c.568G>T (n.568G>T) c.3453G>T (p.Arg1151Ser) c.2187G>T n.612-5552C>A c.3099G>T (p.Arg1033Ser) c.2742G>T (p.Arg914Ser) | |
2 | g.166242643C>G | CA349070754 | SCN1A-AS1,SCN9A | c.3486G>C (p.Arg1162Ser) c.568G>C (n.568G>C) c.3453G>C (p.Arg1151Ser) c.2187G>C n.612-5552C>G c.3099G>C (p.Arg1033Ser) c.2742G>C (p.Arg914Ser) | |
2 | g.166242643C>T | CA429901425 | SCN1A-AS1,SCN9A | c.3486G>A (p.Arg1162=) c.568G>A (n.568G>A) c.3453G>A (p.Arg1151=) c.2187G>A n.612-5552C>T c.3099G>A (p.Arg1033=) c.2742G>A (p.Arg914=) | |
2 | g.166242644C>A | CA349070762 | SCN1A-AS1,SCN9A | c.3485G>T (p.Arg1162Met) c.567G>T (n.567G>T) c.3452G>T (p.Arg1151Met) c.2186G>T n.612-5551C>A c.3098G>T (p.Arg1033Met) c.2741G>T (p.Arg914Met) | |
2 | g.166242644C= | CA1304945710 | SCN1A-AS1,SCN9A | c.3485G= (p.Arg1162=) c.567G= (n.567G=) c.3452G= (p.Arg1151=) c.2186G= n.612-5551C= c.3098G= (p.Arg1033=) c.2741G= (p.Arg914=) | |
2 | g.166242644C>G | CA349070759 | SCN1A-AS1,SCN9A | c.3485G>C (p.Arg1162Thr) c.567G>C (n.567G>C) c.3452G>C (p.Arg1151Thr) c.2186G>C n.612-5551C>G c.3098G>C (p.Arg1033Thr) c.2741G>C (p.Arg914Thr) | |
2 | g.166242644C>T | CA349070756 | SCN1A-AS1,SCN9A | c.3485G>A (p.Arg1162Lys) c.567G>A (n.567G>A) c.3452G>A (p.Arg1151Lys) c.2186G>A n.612-5551C>T c.3098G>A (p.Arg1033Lys) c.2741G>A (p.Arg914Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166242645T>A | CA1944038 | SCN1A-AS1,SCN9A | c.3484A>T (p.Arg1162Trp) c.566A>T (n.566A>T) c.3451A>T (p.Arg1151Trp) c.2185A>T n.612-5550T>A c.3097A>T (p.Arg1033Trp) c.2740A>T (p.Arg914Trp) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.166242645T>C | CA349070782 | SCN1A-AS1,SCN9A | c.3484A>G (p.Arg1162Gly) c.566A>G (n.566A>G) c.3451A>G (p.Arg1151Gly) c.2185A>G n.612-5550T>C c.3097A>G (p.Arg1033Gly) c.2740A>G (p.Arg914Gly) | |
2 | g.166242645T>G | CA429901427 | SCN1A-AS1,SCN9A | c.3484A>C (p.Arg1162=) c.566A>C (n.566A>C) c.3451A>C (p.Arg1151=) c.2185A>C n.612-5550T>G c.3097A>C (p.Arg1033=) c.2740A>C (p.Arg914=) | |
2 | g.166242645T= | CA1304945712 | SCN1A-AS1,SCN9A | c.3484A= (p.Arg1162=) c.566A= (n.566A=) c.3451A= (p.Arg1151=) c.2185A= n.612-5550T= c.3097A= (p.Arg1033=) c.2740A= (p.Arg914=) | |
2 | g.166242646C>A | CA349070783 | SCN1A-AS1,SCN9A | c.3483G>T (p.Trp1161Cys) c.565G>T (n.565G>T) c.3450G>T (p.Trp1150Cys) c.2184G>T c.3450G>T (p.Arg1150=) n.612-5549C>A c.3096G>T (p.Trp1032Cys) c.2739G>T (p.Trp913Cys) | |
2 | g.166242646C= | CA1304945713 | SCN1A-AS1,SCN9A | c.3483G= (p.Trp1161=) c.565G= (n.565G=) c.3450G= (p.Trp1150=) c.2184G= c.3450G= (p.Arg1150=) n.612-5549C= c.3096G= (p.Trp1032=) c.2739G= (p.Trp913=) | |
2 | g.166242646C>G | CA349070785 | SCN1A-AS1,SCN9A | c.3483G>C (p.Trp1161Cys) c.565G>C (n.565G>C) c.3450G>C (p.Trp1150Cys) c.2184G>C c.3450G>C (p.Arg1150=) n.612-5549C>G c.3096G>C (p.Trp1032Cys) c.2739G>C (p.Trp913Cys) | |
2 | g.166242646C>T | CA59814627 | SCN1A-AS1,SCN9A | c.3483G>A (p.Trp1161Ter) c.565G>A (n.565G>A) c.3450G>A (p.Trp1150Ter) c.2184G>A c.3450G>A (p.Arg1150=) n.612-5549C>T c.3096G>A (p.Trp1032Ter) c.2739G>A (p.Trp913Ter) | dbSNP |
2 | g.166242647del | CA2577144904 | SCN1A-AS1,SCN9A | c.3483del (p.Trp1161Ter) c.565del (n.565del) c.3450del (p.Trp1150Ter) c.2184del c.3450del (p.Arg1151GlyfsTer9) n.612-5548del c.3096del (p.Trp1032Ter) c.2739del (p.Trp913Ter) | |
2 | g.166242647C>A | CA349070791 | SCN1A-AS1,SCN9A | c.3482G>T (p.Trp1161Leu) c.564G>T (n.564G>T) c.3449G>T (p.Trp1150Leu) c.2183G>T c.3449G>T (p.Arg1150Leu) n.612-5548C>A c.3095G>T (p.Trp1032Leu) c.2738G>T (p.Trp913Leu) | |
2 | g.166242647C= | CA1304945717 | SCN1A-AS1,SCN9A | c.3482G= (p.Trp1161=) c.564G= (n.564G=) c.3449G= (p.Trp1150=) c.2183G= c.3449G= (p.Arg1150=) n.612-5548C= c.3095G= (p.Trp1032=) c.2738G= (p.Trp913=) | |
2 | g.166242647C>G | CA349070792 | SCN1A-AS1,SCN9A | c.3482G>C (p.Trp1161Ser) c.564G>C (n.564G>C) c.3449G>C (p.Trp1150Ser) c.2183G>C c.3449G>C (p.Arg1150Pro) n.612-5548C>G c.3095G>C (p.Trp1032Ser) c.2738G>C (p.Trp913Ser) | |
2 | g.166242647C>T | CA1944039 | SCN1A-AS1,SCN9A | c.3482G>A (p.Trp1161Ter) c.564G>A (n.564G>A) c.3449G>A (p.Trp1150Ter) c.2183G>A c.3449G>A (p.Arg1150Gln) n.612-5548C>T c.3095G>A (p.Trp1032Ter) c.2738G>A (p.Trp913Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166242647_166242648delinsTG | CA2573133533 | SCN1A-AS1,SCN9A | c.3481_3482delinsCA (p.Trp1161Gln) c.563_564delinsCA (n.563_564delinsCA) c.3448_3449delinsCA (p.Trp1150Gln) c.2182_2183delinsCA n.612-5548_612-5547delinsTG c.3094_3095delinsCA (p.Trp1032Gln) c.2737_2738delinsCA (p.Trp913Gln) | ClinVar |
2 | g.166242648A= | CA341939 | SCN1A-AS1,SCN9A | c.3481T= (p.Trp1161=) c.563T= (n.563T=) c.3448T= (p.Trp1150=) c.2182T= n.612-5547A= c.3094T= (p.Trp1032=) c.2737T= (p.Trp913=) | |
2 | g.166242648A>C | CA349070802 | SCN1A-AS1,SCN9A | c.3481T>G (p.Trp1161Gly) c.563T>G (n.563T>G) c.3448T>G (p.Trp1150Gly) c.2182T>G n.612-5547A>C c.3094T>G (p.Trp1032Gly) c.2737T>G (p.Trp913Gly) | dbSNP |
2 | g.166242648A>G | CA1944040 | SCN1A-AS1,SCN9A | c.3481T>C (p.Trp1161Arg) c.563T>C (n.563T>C) c.3448T>C (p.Trp1150Arg) c.2182T>C n.612-5547A>G c.3094T>C (p.Trp1032Arg) c.2737T>C (p.Trp913Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242648A>T | CA349070804 | SCN1A-AS1,SCN9A | c.3481T>A (p.Trp1161Arg) c.563T>A (n.563T>A) c.3448T>A (p.Trp1150Arg) c.2182T>A n.612-5547A>T c.3094T>A (p.Trp1032Arg) c.2737T>A (p.Trp913Arg) | gnomAD v4 |
2 | g.166242649T>A | CA429901430 | SCN1A-AS1,SCN9A | c.3480A>T (p.Val1160=) c.562A>T (n.562A>T) c.3447A>T (p.Val1149=) c.2181A>T n.612-5546T>A c.3093A>T (p.Val1031=) c.2736A>T (p.Val912=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166242649T>C | CA429901431 | SCN1A-AS1,SCN9A | c.3480A>G (p.Val1160=) c.562A>G (n.562A>G) c.3447A>G (p.Val1149=) c.2181A>G n.612-5546T>C c.3093A>G (p.Val1031=) c.2736A>G (p.Val912=) | dbSNP gnomAD v4 |
2 | g.166242649T>G | CA429901432 | SCN1A-AS1,SCN9A | c.3480A>C (p.Val1160=) c.562A>C (n.562A>C) c.3447A>C (p.Val1149=) c.2181A>C n.612-5546T>G c.3093A>C (p.Val1031=) c.2736A>C (p.Val912=) | |
2 | g.166242649T= | CA1304945724 | SCN1A-AS1,SCN9A | c.3480A= (p.Val1160=) c.562A= (n.562A=) c.3447A= (p.Val1149=) c.2181A= n.612-5546T= c.3093A= (p.Val1031=) c.2736A= (p.Val912=) | |
2 | g.166242650A>C | CA349070813 | SCN1A-AS1,SCN9A | c.3479T>G (p.Val1160Gly) c.561T>G (n.561T>G) c.3446T>G (p.Val1149Gly) c.2180T>G n.612-5545A>C c.3092T>G (p.Val1031Gly) c.2735T>G (p.Val912Gly) | |
2 | g.166242650A>G | CA349070811 | SCN1A-AS1,SCN9A | c.3479T>C (p.Val1160Ala) c.561T>C (n.561T>C) c.3446T>C (p.Val1149Ala) c.2180T>C n.612-5545A>G c.3092T>C (p.Val1031Ala) c.2735T>C (p.Val912Ala) | gnomAD v4 |
2 | g.166242650A>T | CA349070806 | SCN1A-AS1,SCN9A | c.3479T>A (p.Val1160Glu) c.561T>A (n.561T>A) c.3446T>A (p.Val1149Glu) c.2180T>A n.612-5545A>T c.3092T>A (p.Val1031Glu) c.2735T>A (p.Val912Glu) | |
2 | g.166242651C>A | CA349070815 | SCN1A-AS1,SCN9A | c.3478G>T (p.Val1160Leu) c.560G>T (n.560G>T) c.3445G>T (p.Val1149Leu) c.2179G>T n.612-5544C>A c.3091G>T (p.Val1031Leu) c.2734G>T (p.Val912Leu) | gnomAD v4 |
2 | g.166242651C= | CA1304945727 | SCN1A-AS1,SCN9A | c.3478G= (p.Val1160=) c.560G= (n.560G=) c.3445G= (p.Val1149=) c.2179G= n.612-5544C= c.3091G= (p.Val1031=) c.2734G= (p.Val912=) | |
2 | g.166242651C>G | CA349070818 | SCN1A-AS1,SCN9A | c.3478G>C (p.Val1160Leu) c.560G>C (n.560G>C) c.3445G>C (p.Val1149Leu) c.2179G>C n.612-5544C>G c.3091G>C (p.Val1031Leu) c.2734G>C (p.Val912Leu) | gnomAD v4 |
2 | g.166242651C>T | CA349070821 | SCN1A-AS1,SCN9A | c.3478G>A (p.Val1160Ile) c.560G>A (n.560G>A) c.3445G>A (p.Val1149Ile) c.2179G>A n.612-5544C>T c.3091G>A (p.Val1031Ile) c.2734G>A (p.Val912Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242652A= | CA1304945730 | SCN1A-AS1,SCN9A | c.3477T= (p.Cys1159=) c.559T= (n.559T=) c.3444T= (p.Cys1148=) c.2178T= n.612-5543A= c.3090T= (p.Cys1030=) c.2733T= (p.Cys911=) | |
2 | g.166242652A>C | CA349070824 | SCN1A-AS1,SCN9A | c.3477T>G (p.Cys1159Trp) c.559T>G (n.559T>G) c.3444T>G (p.Cys1148Trp) c.2178T>G n.612-5543A>C c.3090T>G (p.Cys1030Trp) c.2733T>G (p.Cys911Trp) | |
2 | g.166242652A>G | CA429901433 | SCN1A-AS1,SCN9A | c.3477T>C (p.Cys1159=) c.559T>C (n.559T>C) c.3444T>C (p.Cys1148=) c.2178T>C n.612-5543A>G c.3090T>C (p.Cys1030=) c.2733T>C (p.Cys911=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242652A>T | CA349070825 | SCN1A-AS1,SCN9A | c.3477T>A (p.Cys1159Ter) c.559T>A (n.559T>A) c.3444T>A (p.Cys1148Ter) c.2178T>A n.612-5543A>T c.3090T>A (p.Cys1030Ter) c.2733T>A (p.Cys911Ter) | dbSNP |
2 | g.166242653C>A | CA349070827 | SCN1A-AS1,SCN9A | c.3476G>T (p.Cys1159Phe) c.558G>T (n.558G>T) c.3443G>T (p.Cys1148Phe) c.2177G>T n.612-5542C>A c.3089G>T (p.Cys1030Phe) c.2732G>T (p.Cys911Phe) | gnomAD v4 |
2 | g.166242653C= | CA1304945734 | SCN1A-AS1,SCN9A | c.3476G= (p.Cys1159=) c.558G= (n.558G=) c.3443G= (p.Cys1148=) c.2177G= n.612-5542C= c.3089G= (p.Cys1030=) c.2732G= (p.Cys911=) | |
2 | g.166242653C>G | CA349070826 | SCN1A-AS1,SCN9A | c.3476G>C (p.Cys1159Ser) c.558G>C (n.558G>C) c.3443G>C (p.Cys1148Ser) c.2177G>C n.612-5542C>G c.3089G>C (p.Cys1030Ser) c.2732G>C (p.Cys911Ser) | |
2 | g.166242653C>T | CA59814631 | SCN1A-AS1,SCN9A | c.3476G>A (p.Cys1159Tyr) c.558G>A (n.558G>A) c.3443G>A (p.Cys1148Tyr) c.2177G>A n.612-5542C>T c.3089G>A (p.Cys1030Tyr) c.2732G>A (p.Cys911Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242654A>C | CA349070829 | SCN1A-AS1,SCN9A | c.3475T>G (p.Cys1159Gly) c.557T>G (n.557T>G) c.3442T>G (p.Cys1148Gly) c.2176T>G n.612-5541A>C c.3088T>G (p.Cys1030Gly) c.2731T>G (p.Cys911Gly) | |
2 | g.166242654A>G | CA349070831 | SCN1A-AS1,SCN9A | c.3475T>C (p.Cys1159Arg) c.557T>C (n.557T>C) c.3442T>C (p.Cys1148Arg) c.2176T>C n.612-5541A>G c.3088T>C (p.Cys1030Arg) c.2731T>C (p.Cys911Arg) | |
2 | g.166242654A>T | CA349070833 | SCN1A-AS1,SCN9A | c.3475T>A (p.Cys1159Ser) c.557T>A (n.557T>A) c.3442T>A (p.Cys1148Ser) c.2176T>A n.612-5541A>T c.3088T>A (p.Cys1030Ser) c.2731T>A (p.Cys911Ser) | |
2 | g.166242655A>C | CA429901435 | SCN1A-AS1,SCN9A | c.3474T>G (p.Gly1158=) c.556T>G (n.556T>G) c.3441T>G (p.Gly1147=) c.2175T>G n.612-5540A>C c.3087T>G (p.Gly1029=) c.2730T>G (p.Gly910=) | |
2 | g.166242655A>G | CA429901437 | SCN1A-AS1,SCN9A | c.3474T>C (p.Gly1158=) c.556T>C (n.556T>C) c.3441T>C (p.Gly1147=) c.2175T>C n.612-5540A>G c.3087T>C (p.Gly1029=) c.2730T>C (p.Gly910=) | |
2 | g.166242655A>T | CA429901438 | SCN1A-AS1,SCN9A | c.3474T>A (p.Gly1158=) c.556T>A (n.556T>A) c.3441T>A (p.Gly1147=) c.2175T>A n.612-5540A>T c.3087T>A (p.Gly1029=) c.2730T>A (p.Gly910=) | |
2 | g.166242656C>A | CA349070835 | SCN1A-AS1,SCN9A | c.3473G>T (p.Gly1158Val) c.555G>T (n.555G>T) c.3440G>T (p.Gly1147Val) c.2174G>T n.612-5539C>A c.3086G>T (p.Gly1029Val) c.2729G>T (p.Gly910Val) | |
2 | g.166242656C= | CA1304945736 | SCN1A-AS1,SCN9A | c.3473G= (p.Gly1158=) c.555G= (n.555G=) c.3440G= (p.Gly1147=) c.2174G= n.612-5539C= c.3086G= (p.Gly1029=) c.2729G= (p.Gly910=) | |
2 | g.166242656C>G | CA349070836 | SCN1A-AS1,SCN9A | c.3473G>C (p.Gly1158Ala) c.555G>C (n.555G>C) c.3440G>C (p.Gly1147Ala) c.2174G>C n.612-5539C>G c.3086G>C (p.Gly1029Ala) c.2729G>C (p.Gly910Ala) | gnomAD v4 |
2 | g.166242656C>T | CA349070838 | SCN1A-AS1,SCN9A | c.3473G>A (p.Gly1158Asp) c.555G>A (n.555G>A) c.3440G>A (p.Gly1147Asp) c.2174G>A n.612-5539C>T c.3086G>A (p.Gly1029Asp) c.2729G>A (p.Gly910Asp) | dbSNP gnomAD v4 |
2 | g.166242657C>A | CA1944041 | SCN1A-AS1,SCN9A | c.3473-1G>T (n.3473-1G>T) c.555-1G>T (n.555-1G>T) c.3440-1G>T (n.3440-1G>T) c.2174-1G>T n.612-5538C>A c.3086-1G>T (n.3086-1G>T) c.2729-1G>T (n.2729-1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166242657C= | CA1304945741 | SCN1A-AS1,SCN9A | c.3473-1G= (n.3473-1G=) c.555-1G= (n.555-1G=) c.3440-1G= (n.3440-1G=) c.2174-1G= n.612-5538C= c.3086-1G= (n.3086-1G=) c.2729-1G= (n.2729-1G=) | |
2 | g.166242657C>G | CA349070847 | SCN1A-AS1,SCN9A | c.3473-1G>C (n.3473-1G>C) c.555-1G>C (n.555-1G>C) c.3440-1G>C (n.3440-1G>C) c.2174-1G>C n.612-5538C>G c.3086-1G>C (n.3086-1G>C) c.2729-1G>C (n.2729-1G>C) | gnomAD v4 |
2 | g.166242657C>T | CA349070845 | SCN1A-AS1,SCN9A | c.3473-1G>A (n.3473-1G>A) c.555-1G>A (n.555-1G>A) c.3440-1G>A (n.3440-1G>A) c.2174-1G>A n.612-5538C>T c.3086-1G>A (n.3086-1G>A) c.2729-1G>A (n.2729-1G>A) | |
2 | g.166242658T>A | CA349070849 | SCN1A-AS1,SCN9A | c.3473-2A>T (n.3473-2A>T) c.555-2A>T (n.555-2A>T) c.3440-2A>T (n.3440-2A>T) c.2174-2A>T n.612-5537T>A c.3086-2A>T (n.3086-2A>T) c.2729-2A>T (n.2729-2A>T) | |
2 | g.166242658T>C | CA349070856 | SCN1A-AS1,SCN9A | c.3473-2A>G (n.3473-2A>G) c.555-2A>G (n.555-2A>G) c.3440-2A>G (n.3440-2A>G) c.2174-2A>G n.612-5537T>C c.3086-2A>G (n.3086-2A>G) c.2729-2A>G (n.2729-2A>G) | gnomAD v4 |
2 | g.166242658T>G | CA349070858 | SCN1A-AS1,SCN9A | c.3473-2A>C (n.3473-2A>C) c.555-2A>C (n.555-2A>C) c.3440-2A>C (n.3440-2A>C) c.2174-2A>C n.612-5537T>G c.3086-2A>C (n.3086-2A>C) c.2729-2A>C (n.2729-2A>C) | |
2 | g.166242659G>C | CA2661766117 | SCN1A-AS1,SCN9A | c.3473-3C>G (n.3473-3C>G) c.555-3C>G (n.555-3C>G) c.3440-3C>G (n.3440-3C>G) c.2174-3C>G n.612-5536G>C c.3086-3C>G (n.3086-3C>G) c.2729-3C>G (n.2729-3C>G) | gnomAD v4 |
2 | g.166242659G>T | CA2661766116 | SCN1A-AS1,SCN9A | c.3473-3C>A (n.3473-3C>A) c.555-3C>A (n.555-3C>A) c.3440-3C>A (n.3440-3C>A) c.2174-3C>A n.612-5536G>T c.3086-3C>A (n.3086-3C>A) c.2729-3C>A (n.2729-3C>A) | gnomAD v4 |
2 | g.166242660A>G | CA2566856270 | SCN1A-AS1,SCN9A | c.3473-4T>C (n.3473-4T>C) c.555-4T>C (n.555-4T>C) c.3440-4T>C (n.3440-4T>C) c.2174-4T>C n.612-5535A>G c.3086-4T>C (n.3086-4T>C) c.2729-4T>C (n.2729-4T>C) | |
2 | g.166242661C>A | CA2661766118 | SCN1A-AS1,SCN9A | c.3473-5G>T (n.3473-5G>T) c.555-5G>T (n.555-5G>T) c.3440-5G>T (n.3440-5G>T) c.2174-5G>T n.612-5534C>A c.3086-5G>T (n.3086-5G>T) c.2729-5G>T (n.2729-5G>T) | gnomAD v4 |
2 | g.166242661C>G | CA2661766119 | SCN1A-AS1,SCN9A | c.3473-5G>C (n.3473-5G>C) c.555-5G>C (n.555-5G>C) c.3440-5G>C (n.3440-5G>C) c.2174-5G>C n.612-5534C>G c.3086-5G>C (n.3086-5G>C) c.2729-5G>C (n.2729-5G>C) | gnomAD v4 |
2 | g.166242664G>A | CA1944042 | SCN1A-AS1,SCN9A | c.3473-8C>T (n.3473-8C>T) c.555-8C>T (n.555-8C>T) c.3440-8C>T (n.3440-8C>T) c.2174-8C>T n.612-5531G>A c.3086-8C>T (n.3086-8C>T) c.2729-8C>T (n.2729-8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242664G= | CA1304945743 | SCN1A-AS1,SCN9A | c.3473-8C= (n.3473-8C=) c.555-8C= (n.555-8C=) c.3440-8C= (n.3440-8C=) c.2174-8C= n.612-5531G= c.3086-8C= (n.3086-8C=) c.2729-8C= (n.2729-8C=) | |
2 | g.166242664G>T | CA2661766120 | SCN1A-AS1,SCN9A | c.3473-8C>A (n.3473-8C>A) c.555-8C>A (n.555-8C>A) c.3440-8C>A (n.3440-8C>A) c.2174-8C>A n.612-5531G>T c.3086-8C>A (n.3086-8C>A) c.2729-8C>A (n.2729-8C>A) | gnomAD v4 |
2 | g.166242665A>G | CA2606309692 | SCN1A-AS1,SCN9A | c.3473-9T>C (n.3473-9T>C) c.555-9T>C (n.555-9T>C) c.3440-9T>C (n.3440-9T>C) c.2174-9T>C n.612-5530A>G c.3086-9T>C (n.3086-9T>C) c.2729-9T>C (n.2729-9T>C) | ClinVar gnomAD v3 gnomAD v4 |
2 | g.166242667A>G | CA2661766121 | SCN1A-AS1,SCN9A | c.3473-11T>C (n.3473-11T>C) c.555-11T>C (n.555-11T>C) c.3440-11T>C (n.3440-11T>C) c.2174-11T>C n.612-5528A>G c.3086-11T>C (n.3086-11T>C) c.2729-11T>C (n.2729-11T>C) | gnomAD v4 |
2 | g.166242668G>A | CA2661766122 | SCN1A-AS1,SCN9A | c.3473-12C>T (n.3473-12C>T) c.555-12C>T (n.555-12C>T) c.3440-12C>T (n.3440-12C>T) c.2174-12C>T n.612-5527G>A c.3086-12C>T (n.3086-12C>T) c.2729-12C>T (n.2729-12C>T) | gnomAD v4 |
2 | g.166242668G>T | CA2661766123 | SCN1A-AS1,SCN9A | c.3473-12C>A (n.3473-12C>A) c.555-12C>A (n.555-12C>A) c.3440-12C>A (n.3440-12C>A) c.2174-12C>A n.612-5527G>T c.3086-12C>A (n.3086-12C>A) c.2729-12C>A (n.2729-12C>A) | gnomAD v4 |