Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38576662T>A | CA352138318 | SCN5A | c.3507A>T (p.Glu1169Asp) c.3510A>T (p.Glu1170Asp) c.3348A>T (p.Glu1116Asp) c.3381A>T (p.Glu1127Asp) | |
3 | g.38576662T>C | CA433134104 | SCN5A | c.3507A>G (p.Glu1169=) c.3510A>G (p.Glu1170=) c.3348A>G (p.Glu1116=) c.3381A>G (p.Glu1127=) | |
3 | g.38576662T>G | CA352138317 | SCN5A | c.3507A>C (p.Glu1169Asp) c.3510A>C (p.Glu1170Asp) c.3348A>C (p.Glu1116Asp) c.3381A>C (p.Glu1127Asp) | |
3 | g.38576663T>A | CA352138319 | SCN5A | c.3506A>T (p.Glu1169Val) c.3509A>T (p.Glu1170Val) c.3347A>T (p.Glu1116Val) c.3380A>T (p.Glu1127Val) | |
3 | g.38576663T>C | CA352138320 | SCN5A | c.3506A>G (p.Glu1169Gly) c.3509A>G (p.Glu1170Gly) c.3347A>G (p.Glu1116Gly) c.3380A>G (p.Glu1127Gly) | |
3 | g.38576663T>G | CA352138321 | SCN5A | c.3506A>C (p.Glu1169Ala) c.3509A>C (p.Glu1170Ala) c.3347A>C (p.Glu1116Ala) c.3380A>C (p.Glu1127Ala) | |
3 | g.38576664C>A | CA352138322 | SCN5A | c.3505G>T (p.Glu1169Ter) c.3508G>T (p.Glu1170Ter) c.3346G>T (p.Glu1116Ter) c.3379G>T (p.Glu1127Ter) | dbSNP |
3 | g.38576664C= | CA1358573142 | SCN5A | c.3505G= (p.Glu1169=) c.3508G= (p.Glu1170=) c.3346G= (p.Glu1116=) c.3379G= (p.Glu1127=) | |
3 | g.38576664C>G | CA352138323 | SCN5A | c.3505G>C (p.Glu1169Gln) c.3508G>C (p.Glu1170Gln) c.3346G>C (p.Glu1116Gln) c.3379G>C (p.Glu1127Gln) | |
3 | g.38576664C>T | CA352138324 | SCN5A | c.3505G>A (p.Glu1169Lys) c.3508G>A (p.Glu1170Lys) c.3346G>A (p.Glu1116Lys) c.3379G>A (p.Glu1127Lys) | gnomAD v4 |
3 | g.38576665A>C | CA433134105 | SCN5A | c.3504T>G (p.Thr1168=) c.3507T>G (p.Thr1169=) c.3345T>G (p.Thr1115=) c.3378T>G (p.Thr1126=) | |
3 | g.38576665A>G | CA433134106 | SCN5A | c.3504T>C (p.Thr1168=) c.3507T>C (p.Thr1169=) c.3345T>C (p.Thr1115=) c.3378T>C (p.Thr1126=) | |
3 | g.38576665A>T | CA433134107 | SCN5A | c.3504T>A (p.Thr1168=) c.3507T>A (p.Thr1169=) c.3345T>A (p.Thr1115=) c.3378T>A (p.Thr1126=) | |
3 | g.38576666G>A | CA061897 | SCN5A | c.3503C>T (p.Thr1168Ile) c.3506C>T (p.Thr1169Ile) c.3344C>T (p.Thr1115Ile) c.3377C>T (p.Thr1126Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38576666G>C | CA352138326 | SCN5A | c.3503C>G (p.Thr1168Ser) c.3506C>G (p.Thr1169Ser) c.3344C>G (p.Thr1115Ser) c.3377C>G (p.Thr1126Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38576666G= | CA1358573143 | SCN5A | c.3503C= (p.Thr1168=) c.3506C= (p.Thr1169=) c.3344C= (p.Thr1115=) c.3377C= (p.Thr1126=) | |
3 | g.38576666G>T | CA352138325 | SCN5A | c.3503C>A (p.Thr1168Asn) c.3506C>A (p.Thr1169Asn) c.3344C>A (p.Thr1115Asn) c.3377C>A (p.Thr1126Asn) | |
3 | g.38576667T>A | CA352138327 | SCN5A | c.3502A>T (p.Thr1168Ser) c.3505A>T (p.Thr1169Ser) c.3343A>T (p.Thr1115Ser) c.3376A>T (p.Thr1126Ser) | |
3 | g.38576667T>C | CA352138328 | SCN5A | c.3502A>G (p.Thr1168Ala) c.3505A>G (p.Thr1169Ala) c.3343A>G (p.Thr1115Ala) c.3376A>G (p.Thr1126Ala) | |
3 | g.38576667T>G | CA352138329 | SCN5A | c.3502A>C (p.Thr1168Pro) c.3505A>C (p.Thr1169Pro) c.3343A>C (p.Thr1115Pro) c.3376A>C (p.Thr1126Pro) | |
3 | g.38576668G>A | CA433134108 | SCN5A | c.3501C>T (p.Phe1167=) c.3504C>T (p.Phe1168=) c.3342C>T (p.Phe1114=) c.3375C>T (p.Phe1125=) | gnomAD v4 |
3 | g.38576668G>C | CA352138330 | SCN5A | c.3501C>G (p.Phe1167Leu) c.3504C>G (p.Phe1168Leu) c.3342C>G (p.Phe1114Leu) c.3375C>G (p.Phe1125Leu) | |
3 | g.38576668G>T | CA352138331 | SCN5A | c.3501C>A (p.Phe1167Leu) c.3504C>A (p.Phe1168Leu) c.3342C>A (p.Phe1114Leu) c.3375C>A (p.Phe1125Leu) | |
3 | g.38576669A>C | CA352138332 | SCN5A | c.3500T>G (p.Phe1167Cys) c.3503T>G (p.Phe1168Cys) c.3341T>G (p.Phe1114Cys) c.3374T>G (p.Phe1125Cys) | |
3 | g.38576669A>G | CA352138333 | SCN5A | c.3500T>C (p.Phe1167Ser) c.3503T>C (p.Phe1168Ser) c.3341T>C (p.Phe1114Ser) c.3374T>C (p.Phe1125Ser) | |
3 | g.38576669A>T | CA352138334 | SCN5A | c.3500T>A (p.Phe1167Tyr) c.3503T>A (p.Phe1168Tyr) c.3341T>A (p.Phe1114Tyr) c.3374T>A (p.Phe1125Tyr) | |
3 | g.38576670A= | CA1358573144 | SCN5A | c.3499T= (p.Phe1167=) c.3502T= (p.Phe1168=) c.3340T= (p.Phe1114=) c.3373T= (p.Phe1125=) | |
3 | g.38576670A>C | CA352138335 | SCN5A | c.3499T>G (p.Phe1167Val) c.3502T>G (p.Phe1168Val) c.3340T>G (p.Phe1114Val) c.3373T>G (p.Phe1125Val) | |
3 | g.38576670A>G | CA352138336 | SCN5A | c.3499T>C (p.Phe1167Leu) c.3502T>C (p.Phe1168Leu) c.3340T>C (p.Phe1114Leu) c.3373T>C (p.Phe1125Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38576670A>T | CA352138337 | SCN5A | c.3499T>A (p.Phe1167Ile) c.3502T>A (p.Phe1168Ile) c.3340T>A (p.Phe1114Ile) c.3373T>A (p.Phe1125Ile) | |
3 | g.38576671G>A | CA433134109 | SCN5A | c.3498C>T (p.Cys1166=) c.3501C>T (p.Cys1167=) c.3339C>T (p.Cys1113=) c.3372C>T (p.Cys1124=) | |
3 | g.38576671G>C | CA352138339 | SCN5A | c.3498C>G (p.Cys1166Trp) c.3501C>G (p.Cys1167Trp) c.3339C>G (p.Cys1113Trp) c.3372C>G (p.Cys1124Trp) | |
3 | g.38576671G= | CA1358573145 | SCN5A | c.3498C= (p.Cys1166=) c.3501C= (p.Cys1167=) c.3339C= (p.Cys1113=) c.3372C= (p.Cys1124=) | |
3 | g.38576671G>T | CA352138338 | SCN5A | c.3498C>A (p.Cys1166Ter) c.3501C>A (p.Cys1167Ter) c.3339C>A (p.Cys1113Ter) c.3372C>A (p.Cys1124Ter) | dbSNP |
3 | g.38576672C>A | CA352138340 | SCN5A | c.3497G>T (p.Cys1166Phe) c.3500G>T (p.Cys1167Phe) c.3338G>T (p.Cys1113Phe) c.3371G>T (p.Cys1124Phe) | COSMIC |
3 | g.38576672C= | CA1358573146 | SCN5A | c.3497G= (p.Cys1166=) c.3500G= (p.Cys1167=) c.3338G= (p.Cys1113=) c.3371G= (p.Cys1124=) | |
3 | g.38576672C>G | CA352138341 | SCN5A | c.3497G>C (p.Cys1166Ser) c.3500G>C (p.Cys1167Ser) c.3338G>C (p.Cys1113Ser) c.3371G>C (p.Cys1124Ser) | |
3 | g.38576672C>T | CA72923913 | SCN5A | c.3497G>A (p.Cys1166Tyr) c.3500G>A (p.Cys1167Tyr) c.3338G>A (p.Cys1113Tyr) c.3371G>A (p.Cys1124Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38576673A>C | CA352138342 | SCN5A | c.3496T>G (p.Cys1166Gly) c.3499T>G (p.Cys1167Gly) c.3337T>G (p.Cys1113Gly) c.3370T>G (p.Cys1124Gly) | |
3 | g.38576673A>G | CA352138343 | SCN5A | c.3496T>C (p.Cys1166Arg) c.3499T>C (p.Cys1167Arg) c.3337T>C (p.Cys1113Arg) c.3370T>C (p.Cys1124Arg) | gnomAD v4 |
3 | g.38576673A>T | CA352138344 | SCN5A | c.3496T>A (p.Cys1166Ser) c.3499T>A (p.Cys1167Ser) c.3337T>A (p.Cys1113Ser) c.3370T>A (p.Cys1124Ser) | |
3 | g.38576674G>A | CA433134111 | SCN5A | c.3495C>T (p.Asp1165=) c.3498C>T (p.Asp1166=) c.3336C>T (p.Asp1112=) c.3369C>T (p.Asp1123=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38576674G>C | CA352138345 | SCN5A | c.3495C>G (p.Asp1165Glu) c.3498C>G (p.Asp1166Glu) c.3336C>G (p.Asp1112Glu) c.3369C>G (p.Asp1123Glu) | |
3 | g.38576674G= | CA1358573147 | SCN5A | c.3495C= (p.Asp1165=) c.3498C= (p.Asp1166=) c.3336C= (p.Asp1112=) c.3369C= (p.Asp1123=) | |
3 | g.38576674G>T | CA352138346 | SCN5A | c.3495C>A (p.Asp1165Glu) c.3498C>A (p.Asp1166Glu) c.3336C>A (p.Asp1112Glu) c.3369C>A (p.Asp1123Glu) | |
3 | g.38576675T>A | CA352138347 | SCN5A | c.3494A>T (p.Asp1165Val) c.3497A>T (p.Asp1166Val) c.3335A>T (p.Asp1112Val) c.3368A>T (p.Asp1123Val) | |
3 | g.38576675T>C | CA352138348 | SCN5A | c.3494A>G (p.Asp1165Gly) c.3497A>G (p.Asp1166Gly) c.3335A>G (p.Asp1112Gly) c.3368A>G (p.Asp1123Gly) | |
3 | g.38576675T>G | CA352138349 | SCN5A | c.3494A>C (p.Asp1165Ala) c.3497A>C (p.Asp1166Ala) c.3335A>C (p.Asp1112Ala) c.3368A>C (p.Asp1123Ala) | |
3 | g.38576676C>A | CA352138350 | SCN5A | c.3493G>T (p.Asp1165Tyr) c.3496G>T (p.Asp1166Tyr) c.3334G>T (p.Asp1112Tyr) c.3367G>T (p.Asp1123Tyr) | |
3 | g.38576676C= | CA1358573148 | SCN5A | c.3493G= (p.Asp1165=) c.3496G= (p.Asp1166=) c.3334G= (p.Asp1112=) c.3367G= (p.Asp1123=) | |
3 | g.38576676C>G | CA352138351 | SCN5A | c.3493G>C (p.Asp1165His) c.3496G>C (p.Asp1166His) c.3334G>C (p.Asp1112His) c.3367G>C (p.Asp1123His) | |
3 | g.38576676C>T | CA017182 | SCN5A | c.3493G>A (p.Asp1165Asn) c.3496G>A (p.Asp1166Asn) c.3334G>A (p.Asp1112Asn) c.3367G>A (p.Asp1123Asn) | ClinVar dbSNP |
3 | g.38576677del | CA2697550823 | SCN5A | c.3493del (p.Asp1165ThrfsTer?) c.3496del (p.Asp1166ThrfsTer?) c.3334del (p.Asp1112ThrfsTer?) c.3367del (p.Asp1123ThrfsTer?) | ClinVar |
3 | g.38576677C>A | CA352138353 | SCN5A | c.3492G>T (p.Glu1164Asp) c.3495G>T (p.Glu1165Asp) c.3333G>T (p.Glu1111Asp) c.3366G>T (p.Glu1122Asp) | |
3 | g.38576677C= | CA1358573149 | SCN5A | c.3492G= (p.Glu1164=) c.3495G= (p.Glu1165=) c.3333G= (p.Glu1111=) c.3366G= (p.Glu1122=) | |
3 | g.38576677C>G | CA352138352 | SCN5A | c.3492G>C (p.Glu1164Asp) c.3495G>C (p.Glu1165Asp) c.3333G>C (p.Glu1111Asp) c.3366G>C (p.Glu1122Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38576677C>T | CA061895 | SCN5A | c.3492G>A (p.Glu1164=) c.3495G>A (p.Glu1165=) c.3333G>A (p.Glu1111=) c.3366G>A (p.Glu1122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38576679_38576680del | CA2840078025 | SCN5A | c.3491_3492del (p.Glu1164GlyfsTer5) c.3494_3495del (p.Glu1165GlyfsTer5) c.3332_3333del (p.Glu1111GlyfsTer5) c.3365_3366del (p.Glu1122GlyfsTer5) | |
3 | g.38576678T>A | CA352138354 | SCN5A | c.3491A>T (p.Glu1164Val) c.3494A>T (p.Glu1165Val) c.3332A>T (p.Glu1111Val) c.3365A>T (p.Glu1122Val) | ClinVar dbSNP |
3 | g.38576678T>C | CA352138355 | SCN5A | c.3491A>G (p.Glu1164Gly) c.3494A>G (p.Glu1165Gly) c.3332A>G (p.Glu1111Gly) c.3365A>G (p.Glu1122Gly) | |
3 | g.38576678T>G | CA352138356 | SCN5A | c.3491A>C (p.Glu1164Ala) c.3494A>C (p.Glu1165Ala) c.3332A>C (p.Glu1111Ala) c.3365A>C (p.Glu1122Ala) | |
3 | g.38576678T= | CA1358573150 | SCN5A | c.3491A= (p.Glu1164=) c.3494A= (p.Glu1165=) c.3332A= (p.Glu1111=) c.3365A= (p.Glu1122=) | |
3 | g.38576679C>A | CA352138357 | SCN5A | c.3490G>T (p.Glu1164Ter) c.3493G>T (p.Glu1165Ter) c.3331G>T (p.Glu1111Ter) c.3364G>T (p.Glu1122Ter) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38576679C= | CA1358573151 | SCN5A | c.3490G= (p.Glu1164=) c.3493G= (p.Glu1165=) c.3331G= (p.Glu1111=) c.3364G= (p.Glu1122=) | |
3 | g.38576679C>G | CA061886 | SCN5A | c.3490G>C (p.Glu1164Gln) c.3493G>C (p.Glu1165Gln) c.3331G>C (p.Glu1111Gln) c.3364G>C (p.Glu1122Gln) | ClinVar dbSNP ExAC gnomAD v4 |
3 | g.38576679C>T | CA352138358 | SCN5A | c.3490G>A (p.Glu1164Lys) c.3493G>A (p.Glu1165Lys) c.3331G>A (p.Glu1111Lys) c.3364G>A (p.Glu1122Lys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38576680T>A | CA433134113 | SCN5A | c.3489A>T (p.Pro1163=) c.3492A>T (p.Pro1164=) c.3330A>T (p.Pro1110=) c.3363A>T (p.Pro1121=) | |
3 | g.38576680T>C | CA433134114 | SCN5A | c.3489A>G (p.Pro1163=) c.3492A>G (p.Pro1164=) c.3330A>G (p.Pro1110=) c.3363A>G (p.Pro1121=) | gnomAD v4 |
3 | g.38576680T>G | CA433134112 | SCN5A | c.3489A>C (p.Pro1163=) c.3492A>C (p.Pro1164=) c.3330A>C (p.Pro1110=) c.3363A>C (p.Pro1121=) | |
3 | g.38576680T= | CA1358573152 | SCN5A | c.3489A= (p.Pro1163=) c.3492A= (p.Pro1164=) c.3330A= (p.Pro1110=) c.3363A= (p.Pro1121=) | |
3 | g.38576681G>A | CA10582193 | SCN5A | c.3488C>T (p.Pro1163Leu) c.3491C>T (p.Pro1164Leu) c.3329C>T (p.Pro1110Leu) c.3362C>T (p.Pro1121Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.38576681G>C | CA352138359 | SCN5A | c.3488C>G (p.Pro1163Arg) c.3491C>G (p.Pro1164Arg) c.3329C>G (p.Pro1110Arg) c.3362C>G (p.Pro1121Arg) | |
3 | g.38576681G= | CA1358573153 | SCN5A | c.3488C= (p.Pro1163=) c.3491C= (p.Pro1164=) c.3329C= (p.Pro1110=) c.3362C= (p.Pro1121=) | |
3 | g.38576681G>T | CA352138360 | SCN5A | c.3488C>A (p.Pro1163Gln) c.3491C>A (p.Pro1164Gln) c.3329C>A (p.Pro1110Gln) c.3362C>A (p.Pro1121Gln) | |
3 | g.38576683dup | CA307962 | SCN5A | c.3488dup (p.Glu1164ArgfsTer6) c.3491dup (p.Glu1165ArgfsTer6) c.3329dup (p.Glu1111ArgfsTer6) c.3362dup (p.Glu1122ArgfsTer6) | ClinVar dbSNP |
3 | g.38576682G>A | CA352138361 | SCN5A | c.3487C>T (p.Pro1163Ser) c.3490C>T (p.Pro1164Ser) c.3328C>T (p.Pro1110Ser) c.3361C>T (p.Pro1121Ser) | |
3 | g.38576682G>C | CA352138362 | SCN5A | c.3487C>G (p.Pro1163Ala) c.3490C>G (p.Pro1164Ala) c.3328C>G (p.Pro1110Ala) c.3361C>G (p.Pro1121Ala) | |
3 | g.38576682G= | CA1358573154 | SCN5A | c.3487C= (p.Pro1163=) c.3490C= (p.Pro1164=) c.3328C= (p.Pro1110=) c.3361C= (p.Pro1121=) | |
3 | g.38576682G>T | CA352138363 | SCN5A | c.3487C>A (p.Pro1163Thr) c.3490C>A (p.Pro1164Thr) c.3328C>A (p.Pro1110Thr) c.3361C>A (p.Pro1121Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38576683G>A | CA433134117 | SCN5A | c.3486C>T (p.Asp1162=) c.3489C>T (p.Asp1163=) c.3327C>T (p.Asp1109=) c.3360C>T (p.Asp1120=) | |
3 | g.38576683G>C | CA352138365 | SCN5A | c.3486C>G (p.Asp1162Glu) c.3489C>G (p.Asp1163Glu) c.3327C>G (p.Asp1109Glu) c.3360C>G (p.Asp1120Glu) | |
3 | g.38576683G>T | CA352138364 | SCN5A | c.3486C>A (p.Asp1162Glu) c.3489C>A (p.Asp1163Glu) c.3327C>A (p.Asp1109Glu) c.3360C>A (p.Asp1120Glu) | |
3 | g.38576684T>A | CA352138366 | SCN5A | c.3485A>T (p.Asp1162Val) c.3488A>T (p.Asp1163Val) c.3326A>T (p.Asp1109Val) c.3359A>T (p.Asp1120Val) | |
3 | g.38576684T>C | CA352138367 | SCN5A | c.3485A>G (p.Asp1162Gly) c.3488A>G (p.Asp1163Gly) c.3326A>G (p.Asp1109Gly) c.3359A>G (p.Asp1120Gly) | dbSNP gnomAD v4 |
3 | g.38576684T>G | CA352138368 | SCN5A | c.3485A>C (p.Asp1162Ala) c.3488A>C (p.Asp1163Ala) c.3326A>C (p.Asp1109Ala) c.3359A>C (p.Asp1120Ala) | |
3 | g.38576684T= | CA1358573155 | SCN5A | c.3485A= (p.Asp1162=) c.3488A= (p.Asp1163=) c.3326A= (p.Asp1109=) c.3359A= (p.Asp1120=) | |
3 | g.38576685C>A | CA72923946 | SCN5A | c.3484G>T (p.Asp1162Tyr) c.3487G>T (p.Asp1163Tyr) c.3325G>T (p.Asp1109Tyr) c.3358G>T (p.Asp1120Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38576685C= | CA1358573156 | SCN5A | c.3484G= (p.Asp1162=) c.3487G= (p.Asp1163=) c.3325G= (p.Asp1109=) c.3358G= (p.Asp1120=) | |
3 | g.38576685C>G | CA352138369 | SCN5A | c.3484G>C (p.Asp1162His) c.3487G>C (p.Asp1163His) c.3325G>C (p.Asp1109His) c.3358G>C (p.Asp1120His) | |
3 | g.38576685C>T | CA352138370 | SCN5A | c.3484G>A (p.Asp1162Asn) c.3487G>A (p.Asp1163Asn) c.3325G>A (p.Asp1109Asn) c.3358G>A (p.Asp1120Asn) | |
3 | g.38576686C>A | CA352138372 | SCN5A | c.3483G>T (p.Lys1161Asn) c.3486G>T (p.Lys1162Asn) c.3324G>T (p.Lys1108Asn) c.3357G>T (p.Lys1119Asn) | |
3 | g.38576686C>G | CA352138371 | SCN5A | c.3483G>C (p.Lys1161Asn) c.3486G>C (p.Lys1162Asn) c.3324G>C (p.Lys1108Asn) c.3357G>C (p.Lys1119Asn) | |
3 | g.38576686C>T | CA433134120 | SCN5A | c.3483G>A (p.Lys1161=) c.3486G>A (p.Lys1162=) c.3324G>A (p.Lys1108=) c.3357G>A (p.Lys1119=) | |
3 | g.38576687T>A | CA352138373 | SCN5A | c.3482A>T (p.Lys1161Met) c.3485A>T (p.Lys1162Met) c.3323A>T (p.Lys1108Met) c.3356A>T (p.Lys1119Met) | |
3 | g.38576687T>C | CA352138374 | SCN5A | c.3482A>G (p.Lys1161Arg) c.3485A>G (p.Lys1162Arg) c.3323A>G (p.Lys1108Arg) c.3356A>G (p.Lys1119Arg) | |
3 | g.38576687T>G | CA352138375 | SCN5A | c.3482A>C (p.Lys1161Thr) c.3485A>C (p.Lys1162Thr) c.3323A>C (p.Lys1108Thr) c.3356A>C (p.Lys1119Thr) | |
3 | g.38576688T>A | CA352138376 | SCN5A | c.3481A>T (p.Lys1161Ter) c.3484A>T (p.Lys1162Ter) c.3322A>T (p.Lys1108Ter) c.3355A>T (p.Lys1119Ter) | dbSNP |
3 | g.38576688T>C | CA352138377 | SCN5A | c.3481A>G (p.Lys1161Glu) c.3484A>G (p.Lys1162Glu) c.3322A>G (p.Lys1108Glu) c.3355A>G (p.Lys1119Glu) | |
3 | g.38576688T>G | CA352138378 | SCN5A | c.3481A>C (p.Lys1161Gln) c.3484A>C (p.Lys1162Gln) c.3322A>C (p.Lys1108Gln) c.3355A>C (p.Lys1119Gln) | |
3 | g.38576688T= | CA1358573157 | SCN5A | c.3481A= (p.Lys1161=) c.3484A= (p.Lys1162=) c.3322A= (p.Lys1108=) c.3355A= (p.Lys1119=) | |
3 | g.38576689G>A | CA433134124 | SCN5A | c.3480C>T (p.Val1160=) c.3483C>T (p.Val1161=) c.3321C>T (p.Val1107=) c.3354C>T (p.Val1118=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38576689G>C | CA433134125 | SCN5A | c.3480C>G (p.Val1160=) c.3483C>G (p.Val1161=) c.3321C>G (p.Val1107=) c.3354C>G (p.Val1118=) | COSMIC COSMIC COSMIC |
3 | g.38576689G= | CA1358573158 | SCN5A | c.3480C= (p.Val1160=) c.3483C= (p.Val1161=) c.3321C= (p.Val1107=) c.3354C= (p.Val1118=) | |
3 | g.38576689G>T | CA433134126 | SCN5A | c.3480C>A (p.Val1160=) c.3483C>A (p.Val1161=) c.3321C>A (p.Val1107=) c.3354C>A (p.Val1118=) | gnomAD v4 |
3 | g.38576690A>C | CA352138381 | SCN5A | c.3479T>G (p.Val1160Gly) c.3482T>G (p.Val1161Gly) c.3320T>G (p.Val1107Gly) c.3353T>G (p.Val1118Gly) | |
3 | g.38576690A>G | CA352138379 | SCN5A | c.3479T>C (p.Val1160Ala) c.3482T>C (p.Val1161Ala) c.3320T>C (p.Val1107Ala) c.3353T>C (p.Val1118Ala) | |
3 | g.38576690A>T | CA352138380 | SCN5A | c.3479T>A (p.Val1160Asp) c.3482T>A (p.Val1161Asp) c.3320T>A (p.Val1107Asp) c.3353T>A (p.Val1118Asp) | |
3 | g.38576691C>A | CA352138382 | SCN5A | c.3478G>T (p.Val1160Phe) c.3481G>T (p.Val1161Phe) c.3319G>T (p.Val1107Phe) c.3352G>T (p.Val1118Phe) | |
3 | g.38576691C>G | CA352138383 | SCN5A | c.3478G>C (p.Val1160Leu) c.3481G>C (p.Val1161Leu) c.3319G>C (p.Val1107Leu) c.3352G>C (p.Val1118Leu) | |
3 | g.38576691C>T | CA352138384 | SCN5A | c.3478G>A (p.Val1160Ile) c.3481G>A (p.Val1161Ile) c.3319G>A (p.Val1107Ile) c.3352G>A (p.Val1118Ile) | |
3 | g.38576692del | CA2586972095 | SCN5A | c.3477del (p.Asp1159GlufsTer?) c.3480del (p.Asp1160GlufsTer?) c.3318del (p.Asp1106GlufsTer?) c.3351del (p.Asp1117GlufsTer?) | |
3 | g.38576692A>C | CA352138385 | SCN5A | c.3477T>G (p.Asp1159Glu) c.3480T>G (p.Asp1160Glu) c.3318T>G (p.Asp1106Glu) c.3351T>G (p.Asp1117Glu) | |
3 | g.38576692A>G | CA433134130 | SCN5A | c.3477T>C (p.Asp1159=) c.3480T>C (p.Asp1160=) c.3318T>C (p.Asp1106=) c.3351T>C (p.Asp1117=) | |
3 | g.38576692A>T | CA352138386 | SCN5A | c.3477T>A (p.Asp1159Glu) c.3480T>A (p.Asp1160Glu) c.3318T>A (p.Asp1106Glu) c.3351T>A (p.Asp1117Glu) | |
3 | g.38576693T>A | CA352138387 | SCN5A | c.3476A>T (p.Asp1159Val) c.3479A>T (p.Asp1160Val) c.3317A>T (p.Asp1106Val) c.3350A>T (p.Asp1117Val) | |
3 | g.38576693T>C | CA352138388 | SCN5A | c.3476A>G (p.Asp1159Gly) c.3479A>G (p.Asp1160Gly) c.3317A>G (p.Asp1106Gly) c.3350A>G (p.Asp1117Gly) | dbSNP |
3 | g.38576693T>G | CA352138389 | SCN5A | c.3476A>C (p.Asp1159Ala) c.3479A>C (p.Asp1160Ala) c.3317A>C (p.Asp1106Ala) c.3350A>C (p.Asp1117Ala) | |
3 | g.38576693T= | CA1358573159 | SCN5A | c.3476A= (p.Asp1159=) c.3479A= (p.Asp1160=) c.3317A= (p.Asp1106=) c.3350A= (p.Asp1117=) | |
3 | g.38576694C>A | CA352138390 | SCN5A | c.3475G>T (p.Asp1159Tyr) c.3478G>T (p.Asp1160Tyr) c.3316G>T (p.Asp1106Tyr) c.3349G>T (p.Asp1117Tyr) | |
3 | g.38576694C>G | CA352138391 | SCN5A | c.3475G>C (p.Asp1159His) c.3478G>C (p.Asp1160His) c.3316G>C (p.Asp1106His) c.3349G>C (p.Asp1117His) | |
3 | g.38576694C>T | CA352138392 | SCN5A | c.3475G>A (p.Asp1159Asn) c.3478G>A (p.Asp1160Asn) c.3316G>A (p.Asp1106Asn) c.3349G>A (p.Asp1117Asn) | COSMIC COSMIC COSMIC |
3 | g.38576695C>A | CA352138393 | SCN5A | c.3474G>T (p.Gln1158His) c.3477G>T (p.Gln1159His) c.3315G>T (p.Gln1105His) c.3348G>T (p.Gln1116His) | gnomAD v4 |
3 | g.38576695C>G | CA352138394 | SCN5A | c.3474G>C (p.Gln1158His) c.3477G>C (p.Gln1159His) c.3315G>C (p.Gln1105His) c.3348G>C (p.Gln1116His) | |
3 | g.38576695C>T | CA433134134 | SCN5A | c.3474G>A (p.Gln1158=) c.3477G>A (p.Gln1159=) c.3315G>A (p.Gln1105=) c.3348G>A (p.Gln1116=) | |
3 | g.38576696T>A | CA352138397 | SCN5A | c.3473A>T (p.Gln1158Leu) c.3476A>T (p.Gln1159Leu) c.3314A>T (p.Gln1105Leu) c.3347A>T (p.Gln1116Leu) | |
3 | g.38576696T>C | CA352138395 | SCN5A | c.3473A>G (p.Gln1158Arg) c.3476A>G (p.Gln1159Arg) c.3314A>G (p.Gln1105Arg) c.3347A>G (p.Gln1116Arg) | |
3 | g.38576696T>G | CA352138396 | SCN5A | c.3473A>C (p.Gln1158Pro) c.3476A>C (p.Gln1159Pro) c.3314A>C (p.Gln1105Pro) c.3347A>C (p.Gln1116Pro) | |
3 | g.38576697G>A | CA352138398 | SCN5A | c.3472C>T (p.Gln1158Ter) c.3475C>T (p.Gln1159Ter) c.3313C>T (p.Gln1105Ter) c.3346C>T (p.Gln1116Ter) | gnomAD v4 |
3 | g.38576697G>C | CA352138400 | SCN5A | c.3472C>G (p.Gln1158Glu) c.3475C>G (p.Gln1159Glu) c.3313C>G (p.Gln1105Glu) c.3346C>G (p.Gln1116Glu) | |
3 | g.38576697G>T | CA352138399 | SCN5A | c.3472C>A (p.Gln1158Lys) c.3475C>A (p.Gln1159Lys) c.3313C>A (p.Gln1105Lys) c.3346C>A (p.Gln1116Lys) | |
3 | g.38576698G>A | CA433134135 | SCN5A | c.3471C>T (p.Gly1157=) c.3474C>T (p.Gly1158=) c.3312C>T (p.Gly1104=) c.3345C>T (p.Gly1115=) | gnomAD v4 |
3 | g.38576698G>C | CA433134136 | SCN5A | c.3471C>G (p.Gly1157=) c.3474C>G (p.Gly1158=) c.3312C>G (p.Gly1104=) c.3345C>G (p.Gly1115=) | |
3 | g.38576698G>T | CA433134137 | SCN5A | c.3471C>A (p.Gly1157=) c.3474C>A (p.Gly1158=) c.3312C>A (p.Gly1104=) c.3345C>A (p.Gly1115=) | |
3 | g.38576699C>A | CA352138401 | SCN5A | c.3470G>T (p.Gly1157Val) c.3473G>T (p.Gly1158Val) c.3311G>T (p.Gly1104Val) c.3344G>T (p.Gly1115Val) | ClinVar dbSNP |
3 | g.38576699C= | CA1358573160 | SCN5A | c.3470G= (p.Gly1157=) c.3473G= (p.Gly1158=) c.3311G= (p.Gly1104=) c.3344G= (p.Gly1115=) | |
3 | g.38576699C>G | CA352138402 | SCN5A | c.3470G>C (p.Gly1157Ala) c.3473G>C (p.Gly1158Ala) c.3311G>C (p.Gly1104Ala) c.3344G>C (p.Gly1115Ala) | |
3 | g.38576699C>T | CA352138403 | SCN5A | c.3470G>A (p.Gly1157Asp) c.3473G>A (p.Gly1158Asp) c.3311G>A (p.Gly1104Asp) c.3344G>A (p.Gly1115Asp) | |
3 | g.38576700C>A | CA352138404 | SCN5A | c.3469G>T (p.Gly1157Cys) c.3472G>T (p.Gly1158Cys) c.3310G>T (p.Gly1104Cys) c.3343G>T (p.Gly1115Cys) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38576700C= | CA1358573161 | SCN5A | c.3469G= (p.Gly1157=) c.3472G= (p.Gly1158=) c.3310G= (p.Gly1104=) c.3343G= (p.Gly1115=) | |
3 | g.38576700C>G | CA352138405 | SCN5A | c.3469G>C (p.Gly1157Arg) c.3472G>C (p.Gly1158Arg) c.3310G>C (p.Gly1104Arg) c.3343G>C (p.Gly1115Arg) | |
3 | g.38576700C>T | CA352138406 | SCN5A | c.3469G>A (p.Gly1157Ser) c.3472G>A (p.Gly1158Ser) c.3310G>A (p.Gly1104Ser) c.3343G>A (p.Gly1115Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38576701G>A | CA061880 | SCN5A | c.3468C>T (p.Leu1156=) c.3471C>T (p.Leu1157=) c.3309C>T (p.Leu1103=) c.3342C>T (p.Leu1114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38576701G>C | CA433134141 | SCN5A | c.3468C>G (p.Leu1156=) c.3471C>G (p.Leu1157=) c.3309C>G (p.Leu1103=) c.3342C>G (p.Leu1114=) | |
3 | g.38576701G= | CA1358573162 | SCN5A | c.3468C= (p.Leu1156=) c.3471C= (p.Leu1157=) c.3309C= (p.Leu1103=) c.3342C= (p.Leu1114=) | |
3 | g.38576701G>T | CA433134140 | SCN5A | c.3468C>A (p.Leu1156=) c.3471C>A (p.Leu1157=) c.3309C>A (p.Leu1103=) c.3342C>A (p.Leu1114=) | |
3 | g.38576702A>C | CA352138407 | SCN5A | c.3467T>G (p.Leu1156Arg) c.3470T>G (p.Leu1157Arg) c.3308T>G (p.Leu1103Arg) c.3341T>G (p.Leu1114Arg) | |
3 | g.38576702A>G | CA352138408 | SCN5A | c.3467T>C (p.Leu1156Pro) c.3470T>C (p.Leu1157Pro) c.3308T>C (p.Leu1103Pro) c.3341T>C (p.Leu1114Pro) | |
3 | g.38576702A>T | CA352138409 | SCN5A | c.3467T>A (p.Leu1156His) c.3470T>A (p.Leu1157His) c.3308T>A (p.Leu1103His) c.3341T>A (p.Leu1114His) | |
3 | g.38576703G>A | CA352138410 | SCN5A | c.3466C>T (p.Leu1156Phe) c.3469C>T (p.Leu1157Phe) c.3307C>T (p.Leu1103Phe) c.3340C>T (p.Leu1114Phe) | gnomAD v4 |
3 | g.38576703G>C | CA352138411 | SCN5A | c.3466C>G (p.Leu1156Val) c.3469C>G (p.Leu1157Val) c.3307C>G (p.Leu1103Val) c.3340C>G (p.Leu1114Val) | |
3 | g.38576703G>T | CA352138412 | SCN5A | c.3466C>A (p.Leu1156Ile) c.3469C>A (p.Leu1157Ile) c.3307C>A (p.Leu1103Ile) c.3340C>A (p.Leu1114Ile) | |
3 | g.38576704G>A | CA433134144 | SCN5A | c.3465C>T (p.Asp1155=) c.3468C>T (p.Asp1156=) c.3306C>T (p.Asp1102=) c.3339C>T (p.Asp1113=) | |
3 | g.38576704G>C | CA352138413 | SCN5A | c.3465C>G (p.Asp1155Glu) c.3468C>G (p.Asp1156Glu) c.3306C>G (p.Asp1102Glu) c.3339C>G (p.Asp1113Glu) | |
3 | g.38576704G>T | CA352138414 | SCN5A | c.3465C>A (p.Asp1155Glu) c.3468C>A (p.Asp1156Glu) c.3306C>A (p.Asp1102Glu) c.3339C>A (p.Asp1113Glu) | |
3 | g.38576705T>A | CA352138415 | SCN5A | c.3464A>T (p.Asp1155Val) c.3467A>T (p.Asp1156Val) c.3305A>T (p.Asp1102Val) c.3338A>T (p.Asp1113Val) | |
3 | g.38576705T>C | CA017175 | SCN5A | c.3464A>G (p.Asp1155Gly) c.3467A>G (p.Asp1156Gly) c.3305A>G (p.Asp1102Gly) c.3338A>G (p.Asp1113Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38576705T>G | CA352138416 | SCN5A | c.3464A>C (p.Asp1155Ala) c.3467A>C (p.Asp1156Ala) c.3305A>C (p.Asp1102Ala) c.3338A>C (p.Asp1113Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38576705T= | CA1358573163 | SCN5A | c.3464A= (p.Asp1155=) c.3467A= (p.Asp1156=) c.3305A= (p.Asp1102=) c.3338A= (p.Asp1113=) | |
3 | g.38576706C>A | CA352138417 | SCN5A | c.3463G>T (p.Asp1155Tyr) c.3466G>T (p.Asp1156Tyr) c.3304G>T (p.Asp1102Tyr) c.3337G>T (p.Asp1113Tyr) | |
3 | g.38576706C>G | CA352138418 | SCN5A | c.3463G>C (p.Asp1155His) c.3466G>C (p.Asp1156His) c.3304G>C (p.Asp1102His) c.3337G>C (p.Asp1113His) | |
3 | g.38576706C>T | CA352138419 | SCN5A | c.3463G>A (p.Asp1155Asn) c.3466G>A (p.Asp1156Asn) c.3304G>A (p.Asp1102Asn) c.3337G>A (p.Asp1113Asn) | |
3 | g.38576707A>C | CA433134148 | SCN5A | c.3462T>G (p.Pro1154=) c.3465T>G (p.Pro1155=) c.3303T>G (p.Pro1101=) c.3336T>G (p.Pro1112=) | |
3 | g.38576707A>G | CA433134152 | SCN5A | c.3462T>C (p.Pro1154=) c.3465T>C (p.Pro1155=) c.3303T>C (p.Pro1101=) c.3336T>C (p.Pro1112=) | |
3 | g.38576707A>T | CA433134150 | SCN5A | c.3462T>A (p.Pro1154=) c.3465T>A (p.Pro1155=) c.3303T>A (p.Pro1101=) c.3336T>A (p.Pro1112=) | |
3 | g.38576708G>A | CA352138420 | SCN5A | c.3461C>T (p.Pro1154Leu) c.3464C>T (p.Pro1155Leu) c.3302C>T (p.Pro1101Leu) c.3335C>T (p.Pro1112Leu) | |
3 | g.38576708G>C | CA352138421 | SCN5A | c.3461C>G (p.Pro1154Arg) c.3464C>G (p.Pro1155Arg) c.3302C>G (p.Pro1101Arg) c.3335C>G (p.Pro1112Arg) | |
3 | g.38576708G>T | CA352138422 | SCN5A | c.3461C>A (p.Pro1154His) c.3464C>A (p.Pro1155His) c.3302C>A (p.Pro1101His) c.3335C>A (p.Pro1112His) | |
3 | g.38576709G>A | CA061870 | SCN5A | c.3460C>T (p.Pro1154Ser) c.3463C>T (p.Pro1155Ser) c.3301C>T (p.Pro1101Ser) c.3334C>T (p.Pro1112Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38576709G>C | CA352138423 | SCN5A | c.3460C>G (p.Pro1154Ala) c.3463C>G (p.Pro1155Ala) c.3301C>G (p.Pro1101Ala) c.3334C>G (p.Pro1112Ala) | |
3 | g.38576709G= | CA1358573164 | SCN5A | c.3460C= (p.Pro1154=) c.3463C= (p.Pro1155=) c.3301C= (p.Pro1101=) c.3334C= (p.Pro1112=) | |
3 | g.38576709G>T | CA352138424 | SCN5A | c.3460C>A (p.Pro1154Thr) c.3463C>A (p.Pro1155Thr) c.3301C>A (p.Pro1101Thr) c.3334C>A (p.Pro1112Thr) | |
3 | g.38576710G>A | CA433134154 | SCN5A | c.3459C>T (p.Ile1153=) c.3462C>T (p.Ile1154=) c.3300C>T (p.Ile1100=) c.3333C>T (p.Ile1111=) | |
3 | g.38576710G>C | CA352138425 | SCN5A | c.3459C>G (p.Ile1153Met) c.3462C>G (p.Ile1154Met) c.3300C>G (p.Ile1100Met) c.3333C>G (p.Ile1111Met) | ClinVar gnomAD v4 |
3 | g.38576710G>T | CA433134155 | SCN5A | c.3459C>A (p.Ile1153=) c.3462C>A (p.Ile1154=) c.3300C>A (p.Ile1100=) c.3333C>A (p.Ile1111=) | |
3 | g.38576711del | CA2580614197 | SCN5A | c.3458del (p.Ile1153ThrfsTer?) c.3461del (p.Ile1154ThrfsTer?) c.3299del (p.Ile1100ThrfsTer?) c.3332del (p.Ile1111ThrfsTer?) | ClinVar |
3 | g.38576711A= | CA1358573165 | SCN5A | c.3458T= (p.Ile1153=) c.3461T= (p.Ile1154=) c.3299T= (p.Ile1100=) c.3332T= (p.Ile1111=) | |
3 | g.38576711A>C | CA352138426 | SCN5A | c.3458T>G (p.Ile1153Ser) c.3461T>G (p.Ile1154Ser) c.3299T>G (p.Ile1100Ser) c.3332T>G (p.Ile1111Ser) | |
3 | g.38576711A>G | CA352138427 | SCN5A | c.3458T>C (p.Ile1153Thr) c.3461T>C (p.Ile1154Thr) c.3299T>C (p.Ile1100Thr) c.3332T>C (p.Ile1111Thr) | ClinVar |
3 | g.38576711A>T | CA72923955 | SCN5A | c.3458T>A (p.Ile1153Asn) c.3461T>A (p.Ile1154Asn) c.3299T>A (p.Ile1100Asn) c.3332T>A (p.Ile1111Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38576712T>A | CA352138428 | SCN5A | c.3457A>T (p.Ile1153Phe) c.3460A>T (p.Ile1154Phe) c.3298A>T (p.Ile1100Phe) c.3331A>T (p.Ile1111Phe) | ClinVar |
3 | g.38576712T>C | CA352138429 | SCN5A | c.3457A>G (p.Ile1153Val) c.3460A>G (p.Ile1154Val) c.3298A>G (p.Ile1100Val) c.3331A>G (p.Ile1111Val) | |
3 | g.38576712T>G | CA352138430 | SCN5A | c.3457A>C (p.Ile1153Leu) c.3460A>C (p.Ile1154Leu) c.3298A>C (p.Ile1100Leu) c.3331A>C (p.Ile1111Leu) | |
3 | g.38576713C>A | CA352138431 | SCN5A | c.3456G>T (p.Gln1152His) c.3459G>T (p.Gln1153His) c.3297G>T (p.Gln1099His) c.3330G>T (p.Gln1110His) | |
3 | g.38576713C= | CA1358573166 | SCN5A | c.3456G= (p.Gln1152=) c.3459G= (p.Gln1153=) c.3297G= (p.Gln1099=) c.3330G= (p.Gln1110=) | |
3 | g.38576713C>G | CA061864 | SCN5A | c.3456G>C (p.Gln1152His) c.3459G>C (p.Gln1153His) c.3297G>C (p.Gln1099His) c.3330G>C (p.Gln1110His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38576713C>T | CA433134160 | SCN5A | c.3456G>A (p.Gln1152=) c.3459G>A (p.Gln1153=) c.3297G>A (p.Gln1099=) c.3330G>A (p.Gln1110=) | |
3 | g.38576714T>A | CA352138432 | SCN5A | c.3455A>T (p.Gln1152Leu) c.3458A>T (p.Gln1153Leu) c.3296A>T (p.Gln1099Leu) c.3329A>T (p.Gln1110Leu) | |
3 | g.38576714T>C | CA352138433 | SCN5A | c.3455A>G (p.Gln1152Arg) c.3458A>G (p.Gln1153Arg) c.3296A>G (p.Gln1099Arg) c.3329A>G (p.Gln1110Arg) | gnomAD v4 |
3 | g.38576714T>G | CA352138434 | SCN5A | c.3455A>C (p.Gln1152Pro) c.3458A>C (p.Gln1153Pro) c.3296A>C (p.Gln1099Pro) c.3329A>C (p.Gln1110Pro) | |
3 | g.38576715G>A | CA352138435 | SCN5A | c.3454C>T (p.Gln1152Ter) c.3457C>T (p.Gln1153Ter) c.3295C>T (p.Gln1099Ter) c.3328C>T (p.Gln1110Ter) | ClinVar dbSNP |
3 | g.38576715G>C | CA352138436 | SCN5A | c.3454C>G (p.Gln1152Glu) c.3457C>G (p.Gln1153Glu) c.3295C>G (p.Gln1099Glu) c.3328C>G (p.Gln1110Glu) | ClinVar dbSNP |
3 | g.38576715G= | CA1358573167 | SCN5A | c.3454C= (p.Gln1152=) c.3457C= (p.Gln1153=) c.3295C= (p.Gln1099=) c.3328C= (p.Gln1110=) | |
3 | g.38576715G>T | CA352138437 | SCN5A | c.3454C>A (p.Gln1152Lys) c.3457C>A (p.Gln1153Lys) c.3295C>A (p.Gln1099Lys) c.3328C>A (p.Gln1110Lys) | |
3 | g.38576716C>A | CA352138438 | SCN5A | c.3453G>T (p.Glu1151Asp) c.3456G>T (p.Glu1152Asp) c.3294G>T (p.Glu1098Asp) c.3327G>T (p.Glu1109Asp) | |
3 | g.38576716C>G | CA352138439 | SCN5A | c.3453G>C (p.Glu1151Asp) c.3456G>C (p.Glu1152Asp) c.3294G>C (p.Glu1098Asp) c.3327G>C (p.Glu1109Asp) | |
3 | g.38576716C>T | CA433134161 | SCN5A | c.3453G>A (p.Glu1151=) c.3456G>A (p.Glu1152=) c.3294G>A (p.Glu1098=) c.3327G>A (p.Glu1109=) | |
3 | g.38576717T>A | CA352138442 | SCN5A | c.3452A>T (p.Glu1151Val) c.3455A>T (p.Glu1152Val) c.3293A>T (p.Glu1098Val) c.3326A>T (p.Glu1109Val) | |
3 | g.38576717T>C | CA352138440 | SCN5A | c.3452A>G (p.Glu1151Gly) c.3455A>G (p.Glu1152Gly) c.3293A>G (p.Glu1098Gly) c.3326A>G (p.Glu1109Gly) | |
3 | g.38576717T>G | CA352138441 | SCN5A | c.3452A>C (p.Glu1151Ala) c.3455A>C (p.Glu1152Ala) c.3293A>C (p.Glu1098Ala) c.3326A>C (p.Glu1109Ala) | |
3 | g.38576718C>A | CA352138443 | SCN5A | c.3451G>T (p.Glu1151Ter) c.3454G>T (p.Glu1152Ter) c.3292G>T (p.Glu1098Ter) c.3325G>T (p.Glu1109Ter) | dbSNP |
3 | g.38576718C= | CA1358573168 | SCN5A | c.3451G= (p.Glu1151=) c.3454G= (p.Glu1152=) c.3292G= (p.Glu1098=) c.3325G= (p.Glu1109=) | |
3 | g.38576718C>G | CA352138444 | SCN5A | c.3451G>C (p.Glu1151Gln) c.3454G>C (p.Glu1152Gln) c.3292G>C (p.Glu1098Gln) c.3325G>C (p.Glu1109Gln) | |
3 | g.38576718C>T | CA352138445 | SCN5A | c.3451G>A (p.Glu1151Lys) c.3454G>A (p.Glu1152Lys) c.3292G>A (p.Glu1098Lys) c.3325G>A (p.Glu1109Lys) | |
3 | g.38576719C>A | CA433134163 | SCN5A | c.3450G>T (p.Leu1150=) c.3453G>T (p.Leu1151=) c.3291G>T (p.Leu1097=) c.3324G>T (p.Leu1108=) | |
3 | g.38576719C= | CA1358573169 | SCN5A | c.3450G= (p.Leu1150=) c.3453G= (p.Leu1151=) c.3291G= (p.Leu1097=) c.3324G= (p.Leu1108=) | |
3 | g.38576719C>G | CA433134164 | SCN5A | c.3450G>C (p.Leu1150=) c.3453G>C (p.Leu1151=) c.3291G>C (p.Leu1097=) c.3324G>C (p.Leu1108=) | |
3 | g.38576719C>T | CA433134165 | SCN5A | c.3450G>A (p.Leu1150=) c.3453G>A (p.Leu1151=) c.3291G>A (p.Leu1097=) c.3324G>A (p.Leu1108=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38576720A>C | CA352138446 | SCN5A | c.3449T>G (p.Leu1150Arg) c.3452T>G (p.Leu1151Arg) c.3290T>G (p.Leu1097Arg) c.3323T>G (p.Leu1108Arg) | |
3 | g.38576720A>G | CA352138447 | SCN5A | c.3449T>C (p.Leu1150Pro) c.3452T>C (p.Leu1151Pro) c.3290T>C (p.Leu1097Pro) c.3323T>C (p.Leu1108Pro) | gnomAD v4 |
3 | g.38576720A>T | CA352138448 | SCN5A | c.3449T>A (p.Leu1150Gln) c.3452T>A (p.Leu1151Gln) c.3290T>A (p.Leu1097Gln) c.3323T>A (p.Leu1108Gln) | |
3 | g.38576721G>A | CA433134168 | SCN5A | c.3448C>T (p.Leu1150=) c.3451C>T (p.Leu1151=) c.3289C>T (p.Leu1097=) c.3322C>T (p.Leu1108=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38576721G>C | CA352138449 | SCN5A | c.3448C>G (p.Leu1150Val) c.3451C>G (p.Leu1151Val) c.3289C>G (p.Leu1097Val) c.3322C>G (p.Leu1108Val) | |
3 | g.38576721G= | CA1358573170 | SCN5A | c.3448C= (p.Leu1150=) c.3451C= (p.Leu1151=) c.3289C= (p.Leu1097=) c.3322C= (p.Leu1108=) | |
3 | g.38576721G>T | CA352138450 | SCN5A | c.3448C>A (p.Leu1150Met) c.3451C>A (p.Leu1151Met) c.3289C>A (p.Leu1097Met) c.3322C>A (p.Leu1108Met) | |
3 | g.38576722G>A | CA433134170 | SCN5A | c.3447C>T (p.Leu1149=) c.3450C>T (p.Leu1150=) c.3288C>T (p.Leu1096=) c.3321C>T (p.Leu1107=) | |
3 | g.38576722G>C | CA433134171 | SCN5A | c.3447C>G (p.Leu1149=) c.3450C>G (p.Leu1150=) c.3288C>G (p.Leu1096=) c.3321C>G (p.Leu1107=) | |
3 | g.38576722G>T | CA433134169 | SCN5A | c.3447C>A (p.Leu1149=) c.3450C>A (p.Leu1150=) c.3288C>A (p.Leu1096=) c.3321C>A (p.Leu1107=) | |
3 | g.38576723A>C | CA352138451 | SCN5A | c.3446T>G (p.Leu1149Arg) c.3449T>G (p.Leu1150Arg) c.3287T>G (p.Leu1096Arg) c.3320T>G (p.Leu1107Arg) | |
3 | g.38576723A>G | CA352138452 | SCN5A | c.3446T>C (p.Leu1149Pro) c.3449T>C (p.Leu1150Pro) c.3287T>C (p.Leu1096Pro) c.3320T>C (p.Leu1107Pro) | |
3 | g.38576723A>T | CA352138453 | SCN5A | c.3446T>A (p.Leu1149His) c.3449T>A (p.Leu1150His) c.3287T>A (p.Leu1096His) c.3320T>A (p.Leu1107His) | |
3 | g.38576724G>A | CA352138454 | SCN5A | c.3445C>T (p.Leu1149Phe) c.3448C>T (p.Leu1150Phe) c.3286C>T (p.Leu1096Phe) c.3319C>T (p.Leu1107Phe) | dbSNP |
3 | g.38576724G>C | CA352138456 | SCN5A | c.3445C>G (p.Leu1149Val) c.3448C>G (p.Leu1150Val) c.3286C>G (p.Leu1096Val) c.3319C>G (p.Leu1107Val) | |
3 | g.38576724G>T | CA352138455 | SCN5A | c.3445C>A (p.Leu1149Ile) c.3448C>A (p.Leu1150Ile) c.3286C>A (p.Leu1096Ile) c.3319C>A (p.Leu1107Ile) | |
3 | g.38576725C>A | CA352138457 | SCN5A | c.3444G>T (p.Glu1148Asp) c.3447G>T (p.Glu1149Asp) c.3285G>T (p.Glu1095Asp) c.3318G>T (p.Glu1106Asp) | |
3 | g.38576725C= | CA1358573171 | SCN5A | c.3444G= (p.Glu1148=) c.3447G= (p.Glu1149=) c.3285G= (p.Glu1095=) c.3318G= (p.Glu1106=) | |
3 | g.38576725C>G | CA352138458 | SCN5A | c.3444G>C (p.Glu1148Asp) c.3447G>C (p.Glu1149Asp) c.3285G>C (p.Glu1095Asp) c.3318G>C (p.Glu1106Asp) | |
3 | g.38576725C>T | CA433134174 | SCN5A | c.3444G>A (p.Glu1148=) c.3447G>A (p.Glu1149=) c.3285G>A (p.Glu1095=) c.3318G>A (p.Glu1106=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38576726T>A | CA352138459 | SCN5A | c.3443A>T (p.Glu1148Val) c.3446A>T (p.Glu1149Val) c.3284A>T (p.Glu1095Val) c.3317A>T (p.Glu1106Val) | |
3 | g.38576726T>C | CA352138461 | SCN5A | c.3443A>G (p.Glu1148Gly) c.3446A>G (p.Glu1149Gly) c.3284A>G (p.Glu1095Gly) c.3317A>G (p.Glu1106Gly) | |
3 | g.38576726T>G | CA352138460 | SCN5A | c.3443A>C (p.Glu1148Ala) c.3446A>C (p.Glu1149Ala) c.3284A>C (p.Glu1095Ala) c.3317A>C (p.Glu1106Ala) | |
3 | g.38576727C>A | CA352138462 | SCN5A | c.3442G>T (p.Glu1148Ter) c.3445G>T (p.Glu1149Ter) c.3283G>T (p.Glu1095Ter) c.3316G>T (p.Glu1106Ter) | dbSNP |
3 | g.38576727C= | CA1358573172 | SCN5A | c.3442G= (p.Glu1148=) c.3445G= (p.Glu1149=) c.3283G= (p.Glu1095=) c.3316G= (p.Glu1106=) | |
3 | g.38576727C>G | CA352138463 | SCN5A | c.3442G>C (p.Glu1148Gln) c.3445G>C (p.Glu1149Gln) c.3283G>C (p.Glu1095Gln) c.3316G>C (p.Glu1106Gln) | |
3 | g.38576727C>T | CA352138464 | SCN5A | c.3442G>A (p.Glu1148Lys) c.3445G>A (p.Glu1149Lys) c.3283G>A (p.Glu1095Lys) c.3316G>A (p.Glu1106Lys) | |
3 | g.38576728A>C | CA433134176 | SCN5A | c.3441T>G (p.Ala1147=) c.3444T>G (p.Ala1148=) c.3282T>G (p.Ala1094=) c.3315T>G (p.Ala1105=) | |
3 | g.38576728A>G | CA433134177 | SCN5A | c.3441T>C (p.Ala1147=) c.3444T>C (p.Ala1148=) c.3282T>C (p.Ala1094=) c.3315T>C (p.Ala1105=) | |
3 | g.38576728A>T | CA433134178 | SCN5A | c.3441T>A (p.Ala1147=) c.3444T>A (p.Ala1148=) c.3282T>A (p.Ala1094=) c.3315T>A (p.Ala1105=) | |
3 | g.38576729G>A | CA352138465 | SCN5A | c.3440C>T (p.Ala1147Val) c.3443C>T (p.Ala1148Val) c.3281C>T (p.Ala1094Val) c.3314C>T (p.Ala1105Val) | |
3 | g.38576729G>C | CA352138466 | SCN5A | c.3440C>G (p.Ala1147Gly) c.3443C>G (p.Ala1148Gly) c.3281C>G (p.Ala1094Gly) c.3314C>G (p.Ala1105Gly) | |
3 | g.38576729G>T | CA352138467 | SCN5A | c.3440C>A (p.Ala1147Asp) c.3443C>A (p.Ala1148Asp) c.3281C>A (p.Ala1094Asp) c.3314C>A (p.Ala1105Asp) | |
3 | g.38576730C>A | CA061854 | SCN5A | c.3439G>T (p.Ala1147Ser) c.3442G>T (p.Ala1148Ser) c.3280G>T (p.Ala1094Ser) c.3313G>T (p.Ala1105Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38576730C= | CA1358573173 | SCN5A | c.3439G= (p.Ala1147=) c.3442G= (p.Ala1148=) c.3280G= (p.Ala1094=) c.3313G= (p.Ala1105=) | |
3 | g.38576730C>G | CA352138468 | SCN5A | c.3439G>C (p.Ala1147Pro) c.3442G>C (p.Ala1148Pro) c.3280G>C (p.Ala1094Pro) c.3313G>C (p.Ala1105Pro) | ClinVar dbSNP |
3 | g.38576730C>T | CA061848 | SCN5A | c.3439G>A (p.Ala1147Thr) c.3442G>A (p.Ala1148Thr) c.3280G>A (p.Ala1094Thr) c.3313G>A (p.Ala1105Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38576731G>A | CA061843 | SCN5A | c.3438C>T (p.Thr1146=) c.3441C>T (p.Thr1147=) c.3279C>T (p.Thr1093=) c.3312C>T (p.Thr1104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38576731G>C | CA433134180 | SCN5A | c.3438C>G (p.Thr1146=) c.3441C>G (p.Thr1147=) c.3279C>G (p.Thr1093=) c.3312C>G (p.Thr1104=) | |
3 | g.38576731G= | CA1358573174 | SCN5A | c.3438C= (p.Thr1146=) c.3441C= (p.Thr1147=) c.3279C= (p.Thr1093=) c.3312C= (p.Thr1104=) | |
3 | g.38576731G>T | CA433134181 | SCN5A | c.3438C>A (p.Thr1146=) c.3441C>A (p.Thr1147=) c.3279C>A (p.Thr1093=) c.3312C>A (p.Thr1104=) | ClinVar gnomAD v4 |
3 | g.38576732G>A | CA061838 | SCN5A | c.3437C>T (p.Thr1146Ile) c.3440C>T (p.Thr1147Ile) c.3278C>T (p.Thr1093Ile) c.3311C>T (p.Thr1104Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38576732G>C | CA72923967 | SCN5A | c.3437C>G (p.Thr1146Ser) c.3440C>G (p.Thr1147Ser) c.3278C>G (p.Thr1093Ser) c.3311C>G (p.Thr1104Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38576732G= | CA1358573175 | SCN5A | c.3437C= (p.Thr1146=) c.3440C= (p.Thr1147=) c.3278C= (p.Thr1093=) c.3311C= (p.Thr1104=) | |
3 | g.38576732G>T | CA061831 | SCN5A | c.3437C>A (p.Thr1146Asn) c.3440C>A (p.Thr1147Asn) c.3278C>A (p.Thr1093Asn) c.3311C>A (p.Thr1104Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38576733T>A | CA352138469 | SCN5A | c.3436A>T (p.Thr1146Ser) c.3439A>T (p.Thr1147Ser) c.3277A>T (p.Thr1093Ser) c.3310A>T (p.Thr1104Ser) | |
3 | g.38576733T>C | CA017161 | SCN5A | c.3436A>G (p.Thr1146Ala) c.3439A>G (p.Thr1147Ala) c.3277A>G (p.Thr1093Ala) c.3310A>G (p.Thr1104Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.38576733T>G | CA352138470 | SCN5A | c.3436A>C (p.Thr1146Pro) c.3439A>C (p.Thr1147Pro) c.3277A>C (p.Thr1093Pro) c.3310A>C (p.Thr1104Pro) | |
3 | g.38576733T= | CA1358573176 | SCN5A | c.3436A= (p.Thr1146=) c.3439A= (p.Thr1147=) c.3277A= (p.Thr1093=) c.3310A= (p.Thr1104=) | |
3 | g.38576734del | CA2586972096 | SCN5A | c.3435del (p.Asn1145LysfsTer?) c.3438del (p.Asn1146LysfsTer?) c.3276del (p.Asn1092LysfsTer?) c.3309del (p.Asn1103LysfsTer?) | |
3 | g.38576734G>A | CA433134182 | SCN5A | c.3435C>T (p.Asn1145=) c.3438C>T (p.Asn1146=) c.3276C>T (p.Asn1092=) c.3309C>T (p.Asn1103=) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38576734G>C | CA352138471 | SCN5A | c.3435C>G (p.Asn1145Lys) c.3438C>G (p.Asn1146Lys) c.3276C>G (p.Asn1092Lys) c.3309C>G (p.Asn1103Lys) | |
3 | g.38576734G= | CA1358573177 | SCN5A | c.3435C= (p.Asn1145=) c.3438C= (p.Asn1146=) c.3276C= (p.Asn1092=) c.3309C= (p.Asn1103=) | |
3 | g.38576734G>T | CA352138472 | SCN5A | c.3435C>A (p.Asn1145Lys) c.3438C>A (p.Asn1146Lys) c.3276C>A (p.Asn1092Lys) c.3309C>A (p.Asn1103Lys) | |
3 | g.38576734_38576735insA | CA352138473 | SCN5A | c.3434_3435insT (p.Thr1146HisfsTer3) c.3437_3438insT (p.Thr1147HisfsTer3) c.3275_3276insT (p.Thr1093HisfsTer3) c.3308_3309insT (p.Thr1104HisfsTer3) | dbSNP |
3 | g.38576735T>A | CA352138474 | SCN5A | c.3434A>T (p.Asn1145Ile) c.3437A>T (p.Asn1146Ile) c.3275A>T (p.Asn1092Ile) c.3308A>T (p.Asn1103Ile) | |
3 | g.38576735T>C | CA352138475 | SCN5A | c.3434A>G (p.Asn1145Ser) c.3437A>G (p.Asn1146Ser) c.3275A>G (p.Asn1092Ser) c.3308A>G (p.Asn1103Ser) | |
3 | g.38576735T>G | CA352138476 | SCN5A | c.3434A>C (p.Asn1145Thr) c.3437A>C (p.Asn1146Thr) c.3275A>C (p.Asn1092Thr) c.3308A>C (p.Asn1103Thr) | |
3 | g.38576736T>A | CA352138477 | SCN5A | c.3433A>T (p.Asn1145Tyr) c.3436A>T (p.Asn1146Tyr) c.3274A>T (p.Asn1092Tyr) c.3307A>T (p.Asn1103Tyr) | |
3 | g.38576736T>C | CA352138478 | SCN5A | c.3433A>G (p.Asn1145Asp) c.3436A>G (p.Asn1146Asp) c.3274A>G (p.Asn1092Asp) c.3307A>G (p.Asn1103Asp) | dbSNP |
3 | g.38576736T>G | CA352138479 | SCN5A | c.3433A>C (p.Asn1145His) c.3436A>C (p.Asn1146His) c.3274A>C (p.Asn1092His) c.3307A>C (p.Asn1103His) | |
3 | g.38576736T= | CA1358573178 | SCN5A | c.3433A= (p.Asn1145=) c.3436A= (p.Asn1146=) c.3274A= (p.Asn1092=) c.3307A= (p.Asn1103=) | |
3 | g.38576737G>A | CA061826 | SCN5A | c.3432C>T (p.Thr1144=) c.3435C>T (p.Thr1145=) c.3273C>T (p.Thr1091=) c.3306C>T (p.Thr1102=) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.38576737G>C | CA433134183 | SCN5A | c.3432C>G (p.Thr1144=) c.3435C>G (p.Thr1145=) c.3273C>G (p.Thr1091=) c.3306C>G (p.Thr1102=) | |
3 | g.38576737G= | CA1358573179 | SCN5A | c.3432C= (p.Thr1144=) c.3435C= (p.Thr1145=) c.3273C= (p.Thr1091=) c.3306C= (p.Thr1102=) | |
3 | g.38576737G>T | CA433134184 | SCN5A | c.3432C>A (p.Thr1144=) c.3435C>A (p.Thr1145=) c.3273C>A (p.Thr1091=) c.3306C>A (p.Thr1102=) | |
3 | g.38576738G>A | CA352138482 | SCN5A | c.3431C>T (p.Thr1144Ile) c.3434C>T (p.Thr1145Ile) c.3272C>T (p.Thr1091Ile) c.3305C>T (p.Thr1102Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38576738G>C | CA352138481 | SCN5A | c.3431C>G (p.Thr1144Ser) c.3434C>G (p.Thr1145Ser) c.3272C>G (p.Thr1091Ser) c.3305C>G (p.Thr1102Ser) | |
3 | g.38576738G= | CA1358573180 | SCN5A | c.3431C= (p.Thr1144=) c.3434C= (p.Thr1145=) c.3272C= (p.Thr1091=) c.3305C= (p.Thr1102=) | |
3 | g.38576738G>T | CA352138480 | SCN5A | c.3431C>A (p.Thr1144Asn) c.3434C>A (p.Thr1145Asn) c.3272C>A (p.Thr1091Asn) c.3305C>A (p.Thr1102Asn) | |
3 | g.38576739T>A | CA352138485 | SCN5A | c.3430A>T (p.Thr1144Ser) c.3433A>T (p.Thr1145Ser) c.3271A>T (p.Thr1091Ser) c.3304A>T (p.Thr1102Ser) | |
3 | g.38576739T>C | CA352138483 | SCN5A | c.3430A>G (p.Thr1144Ala) c.3433A>G (p.Thr1145Ala) c.3271A>G (p.Thr1091Ala) c.3304A>G (p.Thr1102Ala) | |
3 | g.38576739T>G | CA352138484 | SCN5A | c.3430A>C (p.Thr1144Pro) c.3433A>C (p.Thr1145Pro) c.3271A>C (p.Thr1091Pro) c.3304A>C (p.Thr1102Pro) | |
3 | g.38576740C>A | CA352138486 | SCN5A | c.3429G>T (p.Met1143Ile) c.3432G>T (p.Met1144Ile) c.3270G>T (p.Met1090Ile) c.3303G>T (p.Met1101Ile) | COSMIC COSMIC COSMIC |
3 | g.38576740C>G | CA352138487 | SCN5A | c.3429G>C (p.Met1143Ile) c.3432G>C (p.Met1144Ile) c.3270G>C (p.Met1090Ile) c.3303G>C (p.Met1101Ile) | |
3 | g.38576740C>T | CA352138488 | SCN5A | c.3429G>A (p.Met1143Ile) c.3432G>A (p.Met1144Ile) c.3270G>A (p.Met1090Ile) c.3303G>A (p.Met1101Ile) | |
3 | g.38576741_38576758dup | CA2665112490 | SCN5A | c.3412_3429dup (p.Met1143_Thr1144insGlySerThrAlaAspMet) c.3415_3432dup (p.Met1144_Thr1145insGlySerThrAlaAspMet) c.3253_3270dup (p.Met1090_Thr1091insGlySerThrAlaAspMet) c.3286_3303dup (p.Met1101_Thr1102insGlySerThrAlaAspMet) | gnomAD v4 |
3 | g.38576741A= | CA1358573181 | SCN5A | c.3428T= (p.Met1143=) c.3431T= (p.Met1144=) c.3269T= (p.Met1090=) c.3302T= (p.Met1101=) | |
3 | g.38576741A>C | CA352138489 | SCN5A | c.3428T>G (p.Met1143Arg) c.3431T>G (p.Met1144Arg) c.3269T>G (p.Met1090Arg) c.3302T>G (p.Met1101Arg) | dbSNP gnomAD v4 |
3 | g.38576741A>G | CA352138490 | SCN5A | c.3428T>C (p.Met1143Thr) c.3431T>C (p.Met1144Thr) c.3269T>C (p.Met1090Thr) c.3302T>C (p.Met1101Thr) | gnomAD v4 |
3 | g.38576741A>T | CA352138491 | SCN5A | c.3428T>A (p.Met1143Lys) c.3431T>A (p.Met1144Lys) c.3269T>A (p.Met1090Lys) c.3302T>A (p.Met1101Lys) | |
3 | g.38576742T>A | CA352138492 | SCN5A | c.3427A>T (p.Met1143Leu) c.3430A>T (p.Met1144Leu) c.3268A>T (p.Met1090Leu) c.3301A>T (p.Met1101Leu) | |
3 | g.38576742T>C | CA352138493 | SCN5A | c.3427A>G (p.Met1143Val) c.3430A>G (p.Met1144Val) c.3268A>G (p.Met1090Val) c.3301A>G (p.Met1101Val) | dbSNP |
3 | g.38576742T>G | CA352138494 | SCN5A | c.3427A>C (p.Met1143Leu) c.3430A>C (p.Met1144Leu) c.3268A>C (p.Met1090Leu) c.3301A>C (p.Met1101Leu) | |
3 | g.38576742T= | CA1358573182 | SCN5A | c.3427A= (p.Met1143=) c.3430A= (p.Met1144=) c.3268A= (p.Met1090=) c.3301A= (p.Met1101=) | |
3 | g.38576743G>A | CA433134187 | SCN5A | c.3426C>T (p.Asp1142=) c.3429C>T (p.Asp1143=) c.3267C>T (p.Asp1089=) c.3300C>T (p.Asp1100=) | dbSNP |
3 | g.38576743G>C | CA352138495 | SCN5A | c.3426C>G (p.Asp1142Glu) c.3429C>G (p.Asp1143Glu) c.3267C>G (p.Asp1089Glu) c.3300C>G (p.Asp1100Glu) | |
3 | g.38576743G= | CA1358573183 | SCN5A | c.3426C= (p.Asp1142=) c.3429C= (p.Asp1143=) c.3267C= (p.Asp1089=) c.3300C= (p.Asp1100=) | |
3 | g.38576743G>T | CA352138496 | SCN5A | c.3426C>A (p.Asp1142Glu) c.3429C>A (p.Asp1143Glu) c.3267C>A (p.Asp1089Glu) c.3300C>A (p.Asp1100Glu) | |
3 | g.38576744T>A | CA352138499 | SCN5A | c.3425A>T (p.Asp1142Val) c.3428A>T (p.Asp1143Val) c.3266A>T (p.Asp1089Val) c.3299A>T (p.Asp1100Val) | gnomAD v4 |
3 | g.38576744T>C | CA352138497 | SCN5A | c.3425A>G (p.Asp1142Gly) c.3428A>G (p.Asp1143Gly) c.3266A>G (p.Asp1089Gly) c.3299A>G (p.Asp1100Gly) | |
3 | g.38576744T>G | CA352138498 | SCN5A | c.3425A>C (p.Asp1142Ala) c.3428A>C (p.Asp1143Ala) c.3266A>C (p.Asp1089Ala) c.3299A>C (p.Asp1100Ala) | |
3 | g.38576745C>A | CA352138500 | SCN5A | c.3424G>T (p.Asp1142Tyr) c.3427G>T (p.Asp1143Tyr) c.3265G>T (p.Asp1089Tyr) c.3298G>T (p.Asp1100Tyr) | gnomAD v4 |
3 | g.38576745C>G | CA352138501 | SCN5A | c.3424G>C (p.Asp1142His) c.3427G>C (p.Asp1143His) c.3265G>C (p.Asp1089His) c.3298G>C (p.Asp1100His) | |
3 | g.38576745C>T | CA352138502 | SCN5A | c.3424G>A (p.Asp1142Asn) c.3427G>A (p.Asp1143Asn) c.3265G>A (p.Asp1089Asn) c.3298G>A (p.Asp1100Asn) | |
3 | g.38576746T>A | CA433134194 | SCN5A | c.3423A>T (p.Ala1141=) c.3426A>T (p.Ala1142=) c.3264A>T (p.Ala1088=) c.3297A>T (p.Ala1099=) | |
3 | g.38576746T>C | CA433134193 | SCN5A | c.3423A>G (p.Ala1141=) c.3426A>G (p.Ala1142=) c.3264A>G (p.Ala1088=) c.3297A>G (p.Ala1099=) | |
3 | g.38576746T>G | CA433134192 | SCN5A | c.3423A>C (p.Ala1141=) c.3426A>C (p.Ala1142=) c.3264A>C (p.Ala1088=) c.3297A>C (p.Ala1099=) | |
3 | g.38576747G>A | CA10585977 | SCN5A | c.3422C>T (p.Ala1141Val) c.3425C>T (p.Ala1142Val) c.3263C>T (p.Ala1088Val) c.3296C>T (p.Ala1099Val) | ClinVar dbSNP |
3 | g.38576747G>C | CA352138503 | SCN5A | c.3422C>G (p.Ala1141Gly) c.3425C>G (p.Ala1142Gly) c.3263C>G (p.Ala1088Gly) c.3296C>G (p.Ala1099Gly) | |
3 | g.38576747G= | CA1358573184 | SCN5A | c.3422C= (p.Ala1141=) c.3425C= (p.Ala1142=) c.3263C= (p.Ala1088=) c.3296C= (p.Ala1099=) | |
3 | g.38576747G>T | CA352138504 | SCN5A | c.3422C>A (p.Ala1141Glu) c.3425C>A (p.Ala1142Glu) c.3263C>A (p.Ala1088Glu) c.3296C>A (p.Ala1099Glu) | |
3 | g.38576748C>A | CA352138505 | SCN5A | c.3421G>T (p.Ala1141Ser) c.3424G>T (p.Ala1142Ser) c.3262G>T (p.Ala1088Ser) c.3295G>T (p.Ala1099Ser) | |
3 | g.38576748C>G | CA352138506 | SCN5A | c.3421G>C (p.Ala1141Pro) c.3424G>C (p.Ala1142Pro) c.3262G>C (p.Ala1088Pro) c.3295G>C (p.Ala1099Pro) | |
3 | g.38576748C>T | CA352138507 | SCN5A | c.3421G>A (p.Ala1141Thr) c.3424G>A (p.Ala1142Thr) c.3262G>A (p.Ala1088Thr) c.3295G>A (p.Ala1099Thr) | |
3 | g.38576749T>A | CA433134197 | SCN5A | c.3420A>T (p.Thr1140=) c.3423A>T (p.Thr1141=) c.3261A>T (p.Thr1087=) c.3294A>T (p.Thr1098=) | |
3 | g.38576749T>C | CA433134199 | SCN5A | c.3420A>G (p.Thr1140=) c.3423A>G (p.Thr1141=) c.3261A>G (p.Thr1087=) c.3294A>G (p.Thr1098=) | gnomAD v4 |
3 | g.38576749T>G | CA433134198 | SCN5A | c.3420A>C (p.Thr1140=) c.3423A>C (p.Thr1141=) c.3261A>C (p.Thr1087=) c.3294A>C (p.Thr1098=) | |
3 | g.38576750G>A | CA352138508 | SCN5A | c.3419C>T (p.Thr1140Ile) c.3422C>T (p.Thr1141Ile) c.3260C>T (p.Thr1087Ile) c.3293C>T (p.Thr1098Ile) | ClinVar |
3 | g.38576750G>C | CA352138509 | SCN5A | c.3419C>G (p.Thr1140Arg) c.3422C>G (p.Thr1141Arg) c.3260C>G (p.Thr1087Arg) c.3293C>G (p.Thr1098Arg) | |
3 | g.38576750G>T | CA352138510 | SCN5A | c.3419C>A (p.Thr1140Lys) c.3422C>A (p.Thr1141Lys) c.3260C>A (p.Thr1087Lys) c.3293C>A (p.Thr1098Lys) | gnomAD v4 |
3 | g.38576751T>A | CA352138512 | SCN5A | c.3418A>T (p.Thr1140Ser) c.3421A>T (p.Thr1141Ser) c.3259A>T (p.Thr1087Ser) c.3292A>T (p.Thr1098Ser) | ClinVar |
3 | g.38576751T>C | CA352138513 | SCN5A | c.3418A>G (p.Thr1140Ala) c.3421A>G (p.Thr1141Ala) c.3259A>G (p.Thr1087Ala) c.3292A>G (p.Thr1098Ala) | |
3 | g.38576751T>G | CA352138511 | SCN5A | c.3418A>C (p.Thr1140Pro) c.3421A>C (p.Thr1141Pro) c.3259A>C (p.Thr1087Pro) c.3292A>C (p.Thr1098Pro) | |
3 | g.38576754_38576756dup | CA2580614198 | SCN5A | c.3416_3418dup (p.Ser1139_Thr1140insSer) c.3419_3421dup (p.Ser1140_Thr1141insSer) c.3257_3259dup (p.Ser1086_Thr1087insSer) c.3290_3292dup (p.Ser1097_Thr1098insSer) | ClinVar |
3 | g.38576752G>A | CA433134204 | SCN5A | c.3417C>T (p.Ser1139=) c.3420C>T (p.Ser1140=) c.3258C>T (p.Ser1086=) c.3291C>T (p.Ser1097=) | gnomAD v4 |
3 | g.38576752G>C | CA352138514 | SCN5A | c.3417C>G (p.Ser1139Arg) c.3420C>G (p.Ser1140Arg) c.3258C>G (p.Ser1086Arg) c.3291C>G (p.Ser1097Arg) | |
3 | g.38576752G>T | CA352138515 | SCN5A | c.3417C>A (p.Ser1139Arg) c.3420C>A (p.Ser1140Arg) c.3258C>A (p.Ser1086Arg) c.3291C>A (p.Ser1097Arg) | |
3 | g.38576753C>A | CA352138516 | SCN5A | c.3416G>T (p.Ser1139Ile) c.3419G>T (p.Ser1140Ile) c.3257G>T (p.Ser1086Ile) c.3290G>T (p.Ser1097Ile) | |
3 | g.38576753C= | CA1358573185 | SCN5A | c.3416G= (p.Ser1139=) c.3419G= (p.Ser1140=) c.3257G= (p.Ser1086=) c.3290G= (p.Ser1097=) | |
3 | g.38576753C>G | CA017152 | SCN5A | c.3416G>C (p.Ser1139Thr) c.3419G>C (p.Ser1140Thr) c.3257G>C (p.Ser1086Thr) c.3290G>C (p.Ser1097Thr) | ClinVar dbSNP |
3 | g.38576753C>T | CA352138517 | SCN5A | c.3416G>A (p.Ser1139Asn) c.3419G>A (p.Ser1140Asn) c.3257G>A (p.Ser1086Asn) c.3290G>A (p.Ser1097Asn) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38576754T>A | CA352138518 | SCN5A | c.3415A>T (p.Ser1139Cys) c.3418A>T (p.Ser1140Cys) c.3256A>T (p.Ser1086Cys) c.3289A>T (p.Ser1097Cys) | |
3 | g.38576754T>C | CA352138519 | SCN5A | c.3415A>G (p.Ser1139Gly) c.3418A>G (p.Ser1140Gly) c.3256A>G (p.Ser1086Gly) c.3289A>G (p.Ser1097Gly) | |
3 | g.38576754T>G | CA352138520 | SCN5A | c.3415A>C (p.Ser1139Arg) c.3418A>C (p.Ser1140Arg) c.3256A>C (p.Ser1086Arg) c.3289A>C (p.Ser1097Arg) | |
3 | g.38576755G>A | CA433134209 | SCN5A | c.3414C>T (p.Gly1138=) c.3417C>T (p.Gly1139=) c.3255C>T (p.Gly1085=) c.3288C>T (p.Gly1096=) | gnomAD v4 |
3 | g.38576755G>C | CA433134210 | SCN5A | c.3414C>G (p.Gly1138=) c.3417C>G (p.Gly1139=) c.3255C>G (p.Gly1085=) c.3288C>G (p.Gly1096=) | |
3 | g.38576755G>T | CA433134211 | SCN5A | c.3414C>A (p.Gly1138=) c.3417C>A (p.Gly1139=) c.3255C>A (p.Gly1085=) c.3288C>A (p.Gly1096=) | gnomAD v4 |
3 | g.38576756C>A | CA352138521 | SCN5A | c.3413G>T (p.Gly1138Val) c.3416G>T (p.Gly1139Val) c.3254G>T (p.Gly1085Val) c.3287G>T (p.Gly1096Val) | gnomAD v4 |
3 | g.38576756C= | CA1358573186 | SCN5A | c.3413G= (p.Gly1138=) c.3416G= (p.Gly1139=) c.3254G= (p.Gly1085=) c.3287G= (p.Gly1096=) | |
3 | g.38576756C>G | CA352138522 | SCN5A | c.3413G>C (p.Gly1138Ala) c.3416G>C (p.Gly1139Ala) c.3254G>C (p.Gly1085Ala) c.3287G>C (p.Gly1096Ala) | |
3 | g.38576756C>T | CA72923981 | SCN5A | c.3413G>A (p.Gly1138Asp) c.3416G>A (p.Gly1139Asp) c.3254G>A (p.Gly1085Asp) c.3287G>A (p.Gly1096Asp) | ClinVar dbSNP |
3 | g.38576757C>A | CA352138523 | SCN5A | c.3412G>T (p.Gly1138Cys) c.3415G>T (p.Gly1139Cys) c.3253G>T (p.Gly1085Cys) c.3286G>T (p.Gly1096Cys) | |
3 | g.38576757C>G | CA352138524 | SCN5A | c.3412G>C (p.Gly1138Arg) c.3415G>C (p.Gly1139Arg) c.3253G>C (p.Gly1085Arg) c.3286G>C (p.Gly1096Arg) | |
3 | g.38576757C>T | CA352138525 | SCN5A | c.3412G>A (p.Gly1138Ser) c.3415G>A (p.Gly1139Ser) c.3253G>A (p.Gly1085Ser) c.3286G>A (p.Gly1096Ser) | ClinVar |
3 | g.38576758C>A | CA352138527 | SCN5A | c.3411G>T (p.Glu1137Asp) c.3414G>T (p.Glu1138Asp) c.3252G>T (p.Glu1084Asp) c.3285G>T (p.Glu1095Asp) | dbSNP |
3 | g.38576758C= | CA1358573187 | SCN5A | c.3411G= (p.Glu1137=) c.3414G= (p.Glu1138=) c.3252G= (p.Glu1084=) c.3285G= (p.Glu1095=) | |
3 | g.38576758C>G | CA352138526 | SCN5A | c.3411G>C (p.Glu1137Asp) c.3414G>C (p.Glu1138Asp) c.3252G>C (p.Glu1084Asp) c.3285G>C (p.Glu1095Asp) | |
3 | g.38576758C>T | CA72923984 | SCN5A | c.3411G>A (p.Glu1137=) c.3414G>A (p.Glu1138=) c.3252G>A (p.Glu1084=) c.3285G>A (p.Glu1095=) | ClinVar dbSNP |
3 | g.38576759T>A | CA352138528 | SCN5A | c.3410A>T (p.Glu1137Val) c.3413A>T (p.Glu1138Val) c.3251A>T (p.Glu1084Val) c.3284A>T (p.Glu1095Val) | |
3 | g.38576759T>C | CA352138529 | SCN5A | c.3410A>G (p.Glu1137Gly) c.3413A>G (p.Glu1138Gly) c.3251A>G (p.Glu1084Gly) c.3284A>G (p.Glu1095Gly) | |
3 | g.38576759T>G | CA017144 | SCN5A | c.3410A>C (p.Glu1137Ala) c.3413A>C (p.Glu1138Ala) c.3251A>C (p.Glu1084Ala) c.3284A>C (p.Glu1095Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38576759T= | CA1358573188 | SCN5A | c.3410A= (p.Glu1137=) c.3413A= (p.Glu1138=) c.3251A= (p.Glu1084=) c.3284A= (p.Glu1095=) | |
3 | g.38576760C>A | CA352138530 | SCN5A | c.3409G>T (p.Glu1137Ter) c.3412G>T (p.Glu1138Ter) c.3250G>T (p.Glu1084Ter) c.3283G>T (p.Glu1095Ter) | dbSNP |
3 | g.38576760C= | CA1358573189 | SCN5A | c.3409G= (p.Glu1137=) c.3412G= (p.Glu1138=) c.3250G= (p.Glu1084=) c.3283G= (p.Glu1095=) | |
3 | g.38576760C>G | CA352138531 | SCN5A | c.3409G>C (p.Glu1137Gln) c.3412G>C (p.Glu1138Gln) c.3250G>C (p.Glu1084Gln) c.3283G>C (p.Glu1095Gln) | |
3 | g.38576760C>T | CA061821 | SCN5A | c.3409G>A (p.Glu1137Lys) c.3412G>A (p.Glu1138Lys) c.3250G>A (p.Glu1084Lys) c.3283G>A (p.Glu1095Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38576761G>A | CA017137 | SCN5A | c.3408C>T (p.Ser1136=) c.3411C>T (p.Ser1137=) c.3249C>T (p.Ser1083=) c.3282C>T (p.Ser1094=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38576761G>C | CA433134215 | SCN5A | c.3408C>G (p.Ser1136=) c.3411C>G (p.Ser1137=) c.3249C>G (p.Ser1083=) c.3282C>G (p.Ser1094=) | |
3 | g.38576761G= | CA1358573190 | SCN5A | c.3408C= (p.Ser1136=) c.3411C= (p.Ser1137=) c.3249C= (p.Ser1083=) c.3282C= (p.Ser1094=) | |
3 | g.38576761G>T | CA433134216 | SCN5A | c.3408C>A (p.Ser1136=) c.3411C>A (p.Ser1137=) c.3249C>A (p.Ser1083=) c.3282C>A (p.Ser1094=) | |
3 | g.38576762G>A | CA352138532 | SCN5A | c.3407C>T (p.Ser1136Phe) c.3410C>T (p.Ser1137Phe) c.3248C>T (p.Ser1083Phe) c.3281C>T (p.Ser1094Phe) | |
3 | g.38576762G>C | CA352138533 | SCN5A | c.3407C>G (p.Ser1136Cys) c.3410C>G (p.Ser1137Cys) c.3248C>G (p.Ser1083Cys) c.3281C>G (p.Ser1094Cys) | gnomAD v4 |
3 | g.38576762G>T | CA352138534 | SCN5A | c.3407C>A (p.Ser1136Tyr) c.3410C>A (p.Ser1137Tyr) c.3248C>A (p.Ser1083Tyr) c.3281C>A (p.Ser1094Tyr) |