Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38575347_38575386delinsAGCTGTGCTCCACGATGTGGTAGCAGGTCTTGCGCAACCG | CA1358572542 | SCN5A | c.3574_3613delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1192=) c.3577_3616delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1193=) c.3415_3454delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1139=) c.3448_3487delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1150=) | |
3 | g.38575348_38575386del | CA1047000738 | SCN5A | c.3574_3612del (p.Arg1192_Ser1204del) c.3577_3615del (p.Arg1193_Ser1205del) c.3415_3453del (p.Arg1139_Ser1151del) c.3448_3486del (p.Arg1150_Ser1162del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575375C>A | CA352138147 | SCN5A | c.3585G>T (p.Lys1195Asn) c.3588G>T (p.Lys1196Asn) c.3426G>T (p.Lys1142Asn) c.3459G>T (p.Lys1153Asn) | gnomAD v4 |
3 | g.38575375C>G | CA352138148 | SCN5A | c.3585G>C (p.Lys1195Asn) c.3588G>C (p.Lys1196Asn) c.3426G>C (p.Lys1142Asn) c.3459G>C (p.Lys1153Asn) | gnomAD v4 |
3 | g.38575375C>T | CA433134039 | SCN5A | c.3585G>A (p.Lys1195=) c.3588G>A (p.Lys1196=) c.3426G>A (p.Lys1142=) c.3459G>A (p.Lys1153=) | gnomAD v4 |
3 | g.38575376T>A | CA352138149 | SCN5A | c.3584A>T (p.Lys1195Met) c.3587A>T (p.Lys1196Met) c.3425A>T (p.Lys1142Met) c.3458A>T (p.Lys1153Met) | |
3 | g.38575376T>C | CA352138150 | SCN5A | c.3584A>G (p.Lys1195Arg) c.3587A>G (p.Lys1196Arg) c.3425A>G (p.Lys1142Arg) c.3458A>G (p.Lys1153Arg) | |
3 | g.38575376T>G | CA352138151 | SCN5A | c.3584A>C (p.Lys1195Thr) c.3587A>C (p.Lys1196Thr) c.3425A>C (p.Lys1142Thr) c.3458A>C (p.Lys1153Thr) | |
3 | g.38575377del | CA2580069786 | SCN5A | c.3584del (p.Lys1195ArgfsTer19) c.3587del (p.Lys1196ArgfsTer19) c.3425del (p.Lys1142ArgfsTer19) c.3458del (p.Lys1153ArgfsTer19) | ClinVar |
3 | g.38575377T>A | CA352138152 | SCN5A | c.3583A>T (p.Lys1195Ter) c.3586A>T (p.Lys1196Ter) c.3424A>T (p.Lys1142Ter) c.3457A>T (p.Lys1153Ter) | dbSNP |
3 | g.38575377T>C | CA352138153 | SCN5A | c.3583A>G (p.Lys1195Glu) c.3586A>G (p.Lys1196Glu) c.3424A>G (p.Lys1142Glu) c.3457A>G (p.Lys1153Glu) | gnomAD v4 |
3 | g.38575377T>G | CA352138154 | SCN5A | c.3583A>C (p.Lys1195Gln) c.3586A>C (p.Lys1196Gln) c.3424A>C (p.Lys1142Gln) c.3457A>C (p.Lys1153Gln) | |
3 | g.38575377T= | CA1358572555 | SCN5A | c.3583A= (p.Lys1195=) c.3586A= (p.Lys1196=) c.3424A= (p.Lys1142=) c.3457A= (p.Lys1153=) | |
3 | g.38575378G>A | CA433134040 | SCN5A | c.3582C>T (p.Arg1194=) c.3585C>T (p.Arg1195=) c.3423C>T (p.Arg1141=) c.3456C>T (p.Arg1152=) | |
3 | g.38575378G>C | CA433134041 | SCN5A | c.3582C>G (p.Arg1194=) c.3585C>G (p.Arg1195=) c.3423C>G (p.Arg1141=) c.3456C>G (p.Arg1152=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575378G= | CA1358572556 | SCN5A | c.3582C= (p.Arg1194=) c.3585C= (p.Arg1195=) c.3423C= (p.Arg1141=) c.3456C= (p.Arg1152=) | |
3 | g.38575378G>T | CA433134042 | SCN5A | c.3582C>A (p.Arg1194=) c.3585C>A (p.Arg1195=) c.3423C>A (p.Arg1141=) c.3456C>A (p.Arg1152=) | gnomAD v4 |
3 | g.38575379C>A | CA352138156 | SCN5A | c.3581G>T (p.Arg1194Leu) c.3584G>T (p.Arg1195Leu) c.3422G>T (p.Arg1141Leu) c.3455G>T (p.Arg1152Leu) | |
3 | g.38575379C= | CA1358572557 | SCN5A | c.3581G= (p.Arg1194=) c.3584G= (p.Arg1195=) c.3422G= (p.Arg1141=) c.3455G= (p.Arg1152=) | |
3 | g.38575379C>G | CA352138155 | SCN5A | c.3581G>C (p.Arg1194Pro) c.3584G>C (p.Arg1195Pro) c.3422G>C (p.Arg1141Pro) c.3455G>C (p.Arg1152Pro) | dbSNP gnomAD v2 |
3 | g.38575379C>T | CA017297 | SCN5A | c.3581G>A (p.Arg1194His) c.3584G>A (p.Arg1195His) c.3422G>A (p.Arg1141His) c.3455G>A (p.Arg1152His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575380G>A | CA349214 | SCN5A | c.3580C>T (p.Arg1194Cys) c.3583C>T (p.Arg1195Cys) c.3421C>T (p.Arg1141Cys) c.3454C>T (p.Arg1152Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575380G>C | CA352138157 | SCN5A | c.3580C>G (p.Arg1194Gly) c.3583C>G (p.Arg1195Gly) c.3421C>G (p.Arg1141Gly) c.3454C>G (p.Arg1152Gly) | |
3 | g.38575380G= | CA1358572558 | SCN5A | c.3580C= (p.Arg1194=) c.3583C= (p.Arg1195=) c.3421C= (p.Arg1141=) c.3454C= (p.Arg1152=) | |
3 | g.38575380G>T | CA352138158 | SCN5A | c.3580C>A (p.Arg1194Ser) c.3583C>A (p.Arg1195Ser) c.3421C>A (p.Arg1141Ser) c.3454C>A (p.Arg1152Ser) | |
3 | g.38575381C>A | CA352138159 | SCN5A | c.3579G>T (p.Leu1193Phe) c.3582G>T (p.Leu1194Phe) c.3420G>T (p.Leu1140Phe) c.3453G>T (p.Leu1151Phe) | gnomAD v4 |
3 | g.38575381C>G | CA352138160 | SCN5A | c.3579G>C (p.Leu1193Phe) c.3582G>C (p.Leu1194Phe) c.3420G>C (p.Leu1140Phe) c.3453G>C (p.Leu1151Phe) | |
3 | g.38575381C>T | CA433134043 | SCN5A | c.3579G>A (p.Leu1193=) c.3582G>A (p.Leu1194=) c.3420G>A (p.Leu1140=) c.3453G>A (p.Leu1151=) | COSMIC COSMIC COSMIC |
3 | g.38575382A= | CA1358572559 | SCN5A | c.3578T= (p.Leu1193=) c.3581T= (p.Leu1194=) c.3419T= (p.Leu1140=) c.3452T= (p.Leu1151=) | |
3 | g.38575382A>C | CA352138161 | SCN5A | c.3578T>G (p.Leu1193Trp) c.3581T>G (p.Leu1194Trp) c.3419T>G (p.Leu1140Trp) c.3452T>G (p.Leu1151Trp) | ClinVar dbSNP |
3 | g.38575382A>G | CA352138162 | SCN5A | c.3578T>C (p.Leu1193Ser) c.3581T>C (p.Leu1194Ser) c.3419T>C (p.Leu1140Ser) c.3452T>C (p.Leu1151Ser) | |
3 | g.38575382A>T | CA352138163 | SCN5A | c.3578T>A (p.Leu1193Ter) c.3581T>A (p.Leu1194Ter) c.3419T>A (p.Leu1140Ter) c.3452T>A (p.Leu1151Ter) | dbSNP |
3 | g.38575383A= | CA1358572560 | SCN5A | c.3577T= (p.Leu1193=) c.3580T= (p.Leu1194=) c.3418T= (p.Leu1140=) c.3451T= (p.Leu1151=) | |
3 | g.38575383A>C | CA352138164 | SCN5A | c.3577T>G (p.Leu1193Val) c.3580T>G (p.Leu1194Val) c.3418T>G (p.Leu1140Val) c.3451T>G (p.Leu1151Val) | dbSNP |
3 | g.38575383A>G | CA433134044 | SCN5A | c.3577T>C (p.Leu1193=) c.3580T>C (p.Leu1194=) c.3418T>C (p.Leu1140=) c.3451T>C (p.Leu1151=) | |
3 | g.38575383A>T | CA352138165 | SCN5A | c.3577T>A (p.Leu1193Met) c.3580T>A (p.Leu1194Met) c.3418T>A (p.Leu1140Met) c.3451T>A (p.Leu1151Met) | ClinVar dbSNP |
3 | g.38575384C>A | CA433134045 | SCN5A | c.3576G>T (p.Arg1192=) c.3579G>T (p.Arg1193=) c.3417G>T (p.Arg1139=) c.3450G>T (p.Arg1150=) | |
3 | g.38575384C= | CA1358572561 | SCN5A | c.3576G= (p.Arg1192=) c.3579G= (p.Arg1193=) c.3417G= (p.Arg1139=) c.3450G= (p.Arg1150=) | |
3 | g.38575384C>G | CA433134046 | SCN5A | c.3576G>C (p.Arg1192=) c.3579G>C (p.Arg1193=) c.3417G>C (p.Arg1139=) c.3450G>C (p.Arg1150=) | |
3 | g.38575384C>T | CA062064 | SCN5A | c.3576G>A (p.Arg1192=) c.3579G>A (p.Arg1193=) c.3417G>A (p.Arg1139=) c.3450G>A (p.Arg1150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575385C>A | CA352138166 | SCN5A | c.3575G>T (p.Arg1192Leu) c.3578G>T (p.Arg1193Leu) c.3416G>T (p.Arg1139Leu) c.3449G>T (p.Arg1150Leu) | |
3 | g.38575385C= | CA1358572562 | SCN5A | c.3575G= (p.Arg1192=) c.3578G= (p.Arg1193=) c.3416G= (p.Arg1139=) c.3449G= (p.Arg1150=) | |
3 | g.38575385C>G | CA352138167 | SCN5A | c.3575G>C (p.Arg1192Pro) c.3578G>C (p.Arg1193Pro) c.3416G>C (p.Arg1139Pro) c.3449G>C (p.Arg1150Pro) | |
3 | g.38575385C>T | CA017287 | SCN5A | c.3575G>A (p.Arg1192Gln) c.3578G>A (p.Arg1193Gln) c.3416G>A (p.Arg1139Gln) c.3449G>A (p.Arg1150Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575386G>A | CA017280 | SCN5A | c.3574C>T (p.Arg1192Trp) c.3577C>T (p.Arg1193Trp) c.3415C>T (p.Arg1139Trp) c.3448C>T (p.Arg1150Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575386G>C | CA352138168 | SCN5A | c.3574C>G (p.Arg1192Gly) c.3577C>G (p.Arg1193Gly) c.3415C>G (p.Arg1139Gly) c.3448C>G (p.Arg1150Gly) | |
3 | g.38575386G= | CA1358572563 | SCN5A | c.3574C= (p.Arg1192=) c.3577C= (p.Arg1193=) c.3415C= (p.Arg1139=) c.3448C= (p.Arg1150=) | |
3 | g.38575386G>T | CA433134047 | SCN5A | c.3574C>A (p.Arg1192=) c.3577C>A (p.Arg1193=) c.3415C>A (p.Arg1139=) c.3448C>A (p.Arg1150=) | gnomAD v4 |
3 | g.38575387C>A | CA352138169 | SCN5A | c.3573G>T (p.Trp1191Cys) c.3576G>T (p.Trp1192Cys) c.3414G>T (p.Trp1138Cys) c.3447G>T (p.Trp1149Cys) | |
3 | g.38575387C= | CA1358572564 | SCN5A | c.3573G= (p.Trp1191=) c.3576G= (p.Trp1192=) c.3414G= (p.Trp1138=) c.3447G= (p.Trp1149=) | |
3 | g.38575387C>G | CA352138170 | SCN5A | c.3573G>C (p.Trp1191Cys) c.3576G>C (p.Trp1192Cys) c.3414G>C (p.Trp1138Cys) c.3447G>C (p.Trp1149Cys) | |
3 | g.38575387C>T | CA352138171 | SCN5A | c.3573G>A (p.Trp1191Ter) c.3576G>A (p.Trp1192Ter) c.3414G>A (p.Trp1138Ter) c.3447G>A (p.Trp1149Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38575388C>A | CA352138172 | SCN5A | c.3572G>T (p.Trp1191Leu) c.3575G>T (p.Trp1192Leu) c.3413G>T (p.Trp1138Leu) c.3446G>T (p.Trp1149Leu) | gnomAD v4 |
3 | g.38575388C= | CA1358572565 | SCN5A | c.3572G= (p.Trp1191=) c.3575G= (p.Trp1192=) c.3413G= (p.Trp1138=) c.3446G= (p.Trp1149=) | |
3 | g.38575388C>G | CA352138173 | SCN5A | c.3572G>C (p.Trp1191Ser) c.3575G>C (p.Trp1192Ser) c.3413G>C (p.Trp1138Ser) c.3446G>C (p.Trp1149Ser) | |
3 | g.38575388C>T | CA017274 | SCN5A | c.3572G>A (p.Trp1191Ter) c.3575G>A (p.Trp1192Ter) c.3413G>A (p.Trp1138Ter) c.3446G>A (p.Trp1149Ter) | ClinVar dbSNP |
3 | g.38575389A>C | CA352138174 | SCN5A | c.3571T>G (p.Trp1191Gly) c.3574T>G (p.Trp1192Gly) c.3412T>G (p.Trp1138Gly) c.3445T>G (p.Trp1149Gly) | |
3 | g.38575389A>G | CA352138175 | SCN5A | c.3571T>C (p.Trp1191Arg) c.3574T>C (p.Trp1192Arg) c.3412T>C (p.Trp1138Arg) c.3445T>C (p.Trp1149Arg) | |
3 | g.38575389A>T | CA352138176 | SCN5A | c.3571T>A (p.Trp1191Arg) c.3574T>A (p.Trp1192Arg) c.3412T>A (p.Trp1138Arg) c.3445T>A (p.Trp1149Arg) | |
3 | g.38575390C>A | CA352138177 | SCN5A | c.3570G>T (p.Trp1190Cys) c.3573G>T (p.Trp1191Cys) c.3411G>T (p.Trp1137Cys) c.3444G>T (p.Trp1148Cys) | dbSNP gnomAD v2 |
3 | g.38575390C= | CA1358572566 | SCN5A | c.3570G= (p.Trp1190=) c.3573G= (p.Trp1191=) c.3411G= (p.Trp1137=) c.3444G= (p.Trp1148=) | |
3 | g.38575390C>G | CA352138178 | SCN5A | c.3570G>C (p.Trp1190Cys) c.3573G>C (p.Trp1191Cys) c.3411G>C (p.Trp1137Cys) c.3444G>C (p.Trp1148Cys) | |
3 | g.38575390C>T | CA352138179 | SCN5A | c.3570G>A (p.Trp1190Ter) c.3573G>A (p.Trp1191Ter) c.3411G>A (p.Trp1137Ter) c.3444G>A (p.Trp1148Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.38575391C>A | CA352138181 | SCN5A | c.3569G>T (p.Trp1190Leu) c.3572G>T (p.Trp1191Leu) c.3410G>T (p.Trp1137Leu) c.3443G>T (p.Trp1148Leu) | |
3 | g.38575391C>G | CA352138182 | SCN5A | c.3569G>C (p.Trp1190Ser) c.3572G>C (p.Trp1191Ser) c.3410G>C (p.Trp1137Ser) c.3443G>C (p.Trp1148Ser) | |
3 | g.38575391C>T | CA352138180 | SCN5A | c.3569G>A (p.Trp1190Ter) c.3572G>A (p.Trp1191Ter) c.3410G>A (p.Trp1137Ter) c.3443G>A (p.Trp1148Ter) | gnomAD v4 |
3 | g.38575392A>C | CA352138183 | SCN5A | c.3568T>G (p.Trp1190Gly) c.3571T>G (p.Trp1191Gly) c.3409T>G (p.Trp1137Gly) c.3442T>G (p.Trp1148Gly) | |
3 | g.38575392A>G | CA352138184 | SCN5A | c.3568T>C (p.Trp1190Arg) c.3571T>C (p.Trp1191Arg) c.3409T>C (p.Trp1137Arg) c.3442T>C (p.Trp1148Arg) | |
3 | g.38575392A>T | CA352138185 | SCN5A | c.3568T>A (p.Trp1190Arg) c.3571T>A (p.Trp1191Arg) c.3409T>A (p.Trp1137Arg) c.3442T>A (p.Trp1148Arg) | |
3 | g.38575393G>A | CA433134048 | SCN5A | c.3567C>T (p.Val1189=) c.3570C>T (p.Val1190=) c.3408C>T (p.Val1136=) c.3441C>T (p.Val1147=) | |
3 | g.38575393G>C | CA433134049 | SCN5A | c.3567C>G (p.Val1189=) c.3570C>G (p.Val1190=) c.3408C>G (p.Val1136=) c.3441C>G (p.Val1147=) | |
3 | g.38575393G>T | CA433134050 | SCN5A | c.3567C>A (p.Val1189=) c.3570C>A (p.Val1190=) c.3408C>A (p.Val1136=) c.3441C>A (p.Val1147=) | |
3 | g.38575394A>C | CA352138186 | SCN5A | c.3566T>G (p.Val1189Gly) c.3569T>G (p.Val1190Gly) c.3407T>G (p.Val1136Gly) c.3440T>G (p.Val1147Gly) | gnomAD v4 |
3 | g.38575394A>G | CA352138187 | SCN5A | c.3566T>C (p.Val1189Ala) c.3569T>C (p.Val1190Ala) c.3407T>C (p.Val1136Ala) c.3440T>C (p.Val1147Ala) | |
3 | g.38575394A>T | CA352138188 | SCN5A | c.3566T>A (p.Val1189Asp) c.3569T>A (p.Val1190Asp) c.3407T>A (p.Val1136Asp) c.3440T>A (p.Val1147Asp) | |
3 | g.38575395C>A | CA352138191 | SCN5A | c.3565G>T (p.Val1189Phe) c.3568G>T (p.Val1190Phe) c.3406G>T (p.Val1136Phe) c.3439G>T (p.Val1147Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575395C= | CA1358572567 | SCN5A | c.3565G= (p.Val1189=) c.3568G= (p.Val1190=) c.3406G= (p.Val1136=) c.3439G= (p.Val1147=) | |
3 | g.38575395C>G | CA352138189 | SCN5A | c.3565G>C (p.Val1189Leu) c.3568G>C (p.Val1190Leu) c.3406G>C (p.Val1136Leu) c.3439G>C (p.Val1147Leu) | dbSNP |
3 | g.38575395C>T | CA352138190 | SCN5A | c.3565G>A (p.Val1189Ile) c.3568G>A (p.Val1190Ile) c.3406G>A (p.Val1136Ile) c.3439G>A (p.Val1147Ile) | |
3 | g.38575396C>A | CA352138192 | SCN5A | c.3564G>T (p.Lys1188Asn) c.3567G>T (p.Lys1189Asn) c.3405G>T (p.Lys1135Asn) c.3438G>T (p.Lys1146Asn) | |
3 | g.38575396C= | CA1358572568 | SCN5A | c.3564G= (p.Lys1188=) c.3567G= (p.Lys1189=) c.3405G= (p.Lys1135=) c.3438G= (p.Lys1146=) | |
3 | g.38575396C>G | CA352138193 | SCN5A | c.3564G>C (p.Lys1188Asn) c.3567G>C (p.Lys1189Asn) c.3405G>C (p.Lys1135Asn) c.3438G>C (p.Lys1146Asn) | ClinVar dbSNP |
3 | g.38575396C>T | CA433134052 | SCN5A | c.3564G>A (p.Lys1188=) c.3567G>A (p.Lys1189=) c.3405G>A (p.Lys1135=) c.3438G>A (p.Lys1146=) | ClinVar dbSNP gnomAD v4 |
3 | g.38575396_38575405del | CA2837240895 | SCN5A | c.3555_3564del (p.Pro1186SerfsTer25) c.3558_3567del (p.Pro1187SerfsTer25) c.3396_3405del (p.Pro1133SerfsTer25) c.3429_3438del (p.Pro1144SerfsTer25) | |
3 | g.38575397T>A | CA352138194 | SCN5A | c.3563A>T (p.Lys1188Met) c.3566A>T (p.Lys1189Met) c.3404A>T (p.Lys1135Met) c.3437A>T (p.Lys1146Met) | |
3 | g.38575397T>C | CA352138195 | SCN5A | c.3563A>G (p.Lys1188Arg) c.3566A>G (p.Lys1189Arg) c.3404A>G (p.Lys1135Arg) c.3437A>G (p.Lys1146Arg) | |
3 | g.38575397T>G | CA352138196 | SCN5A | c.3563A>C (p.Lys1188Thr) c.3566A>C (p.Lys1189Thr) c.3404A>C (p.Lys1135Thr) c.3437A>C (p.Lys1146Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575397T= | CA1358572569 | SCN5A | c.3563A= (p.Lys1188=) c.3566A= (p.Lys1189=) c.3404A= (p.Lys1135=) c.3437A= (p.Lys1146=) | |
3 | g.38575398T>A | CA352138199 | SCN5A | c.3562A>T (p.Lys1188Ter) c.3565A>T (p.Lys1189Ter) c.3403A>T (p.Lys1135Ter) c.3436A>T (p.Lys1146Ter) | dbSNP |
3 | g.38575398T>C | CA352138197 | SCN5A | c.3562A>G (p.Lys1188Glu) c.3565A>G (p.Lys1189Glu) c.3403A>G (p.Lys1135Glu) c.3436A>G (p.Lys1146Glu) | |
3 | g.38575398T>G | CA352138198 | SCN5A | c.3562A>C (p.Lys1188Gln) c.3565A>C (p.Lys1189Gln) c.3403A>C (p.Lys1135Gln) c.3436A>C (p.Lys1146Gln) | |
3 | g.38575398T= | CA1358572570 | SCN5A | c.3562A= (p.Lys1188=) c.3565A= (p.Lys1189=) c.3403A= (p.Lys1135=) c.3436A= (p.Lys1146=) | |
3 | g.38575399C>A | CA062045 | SCN5A | c.3561G>T (p.Gly1187=) c.3564G>T (p.Gly1188=) c.3402G>T (p.Gly1134=) c.3435G>T (p.Gly1145=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575399C= | CA1358572571 | SCN5A | c.3561G= (p.Gly1187=) c.3564G= (p.Gly1188=) c.3402G= (p.Gly1134=) c.3435G= (p.Gly1145=) | |
3 | g.38575399C>G | CA433134054 | SCN5A | c.3561G>C (p.Gly1187=) c.3564G>C (p.Gly1188=) c.3402G>C (p.Gly1134=) c.3435G>C (p.Gly1145=) | |
3 | g.38575399C>T | CA433134053 | SCN5A | c.3561G>A (p.Gly1187=) c.3564G>A (p.Gly1188=) c.3402G>A (p.Gly1134=) c.3435G>A (p.Gly1145=) | |
3 | g.38575400C>A | CA352138200 | SCN5A | c.3560G>T (p.Gly1187Val) c.3563G>T (p.Gly1188Val) c.3401G>T (p.Gly1134Val) c.3434G>T (p.Gly1145Val) | |
3 | g.38575400C>G | CA352138201 | SCN5A | c.3560G>C (p.Gly1187Ala) c.3563G>C (p.Gly1188Ala) c.3401G>C (p.Gly1134Ala) c.3434G>C (p.Gly1145Ala) | |
3 | g.38575400C>T | CA352138202 | SCN5A | c.3560G>A (p.Gly1187Glu) c.3563G>A (p.Gly1188Glu) c.3401G>A (p.Gly1134Glu) c.3434G>A (p.Gly1145Glu) | gnomAD v4 |
3 | g.38575401C>A | CA352138203 | SCN5A | c.3559G>T (p.Gly1187Trp) c.3562G>T (p.Gly1188Trp) c.3400G>T (p.Gly1134Trp) c.3433G>T (p.Gly1145Trp) | |
3 | g.38575401C>G | CA352138204 | SCN5A | c.3559G>C (p.Gly1187Arg) c.3562G>C (p.Gly1188Arg) c.3400G>C (p.Gly1134Arg) c.3433G>C (p.Gly1145Arg) | |
3 | g.38575401C>T | CA352138205 | SCN5A | c.3559G>A (p.Gly1187Arg) c.3562G>A (p.Gly1188Arg) c.3400G>A (p.Gly1134Arg) c.3433G>A (p.Gly1145Arg) | |
3 | g.38575402T>A | CA433134055 | SCN5A | c.3558A>T (p.Pro1186=) c.3561A>T (p.Pro1187=) c.3399A>T (p.Pro1133=) c.3432A>T (p.Pro1144=) | |
3 | g.38575402T>C | CA433134057 | SCN5A | c.3558A>G (p.Pro1186=) c.3561A>G (p.Pro1187=) c.3399A>G (p.Pro1133=) c.3432A>G (p.Pro1144=) | |
3 | g.38575402T>G | CA433134056 | SCN5A | c.3558A>C (p.Pro1186=) c.3561A>C (p.Pro1187=) c.3399A>C (p.Pro1133=) c.3432A>C (p.Pro1144=) | |
3 | g.38575403G>A | CA017267 | SCN5A | c.3557C>T (p.Pro1186Leu) c.3560C>T (p.Pro1187Leu) c.3398C>T (p.Pro1133Leu) c.3431C>T (p.Pro1144Leu) | ClinVar dbSNP |
3 | g.38575403G>C | CA352138206 | SCN5A | c.3557C>G (p.Pro1186Arg) c.3560C>G (p.Pro1187Arg) c.3398C>G (p.Pro1133Arg) c.3431C>G (p.Pro1144Arg) | |
3 | g.38575403G= | CA1358572572 | SCN5A | c.3557C= (p.Pro1186=) c.3560C= (p.Pro1187=) c.3398C= (p.Pro1133=) c.3431C= (p.Pro1144=) | |
3 | g.38575403G>T | CA062038 | SCN5A | c.3557C>A (p.Pro1186Gln) c.3560C>A (p.Pro1187Gln) c.3398C>A (p.Pro1133Gln) c.3431C>A (p.Pro1144Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575406del | CA2595894910 | SCN5A | c.3557del (p.Pro1186GlnfsTer28) c.3560del (p.Pro1187GlnfsTer28) c.3398del (p.Pro1133GlnfsTer28) c.3431del (p.Pro1144GlnfsTer28) | gnomAD v3 gnomAD v4 |
3 | g.38575404G>A | CA352138207 | SCN5A | c.3556C>T (p.Pro1186Ser) c.3559C>T (p.Pro1187Ser) c.3397C>T (p.Pro1133Ser) c.3430C>T (p.Pro1144Ser) | |
3 | g.38575404G>C | CA352138208 | SCN5A | c.3556C>G (p.Pro1186Ala) c.3559C>G (p.Pro1187Ala) c.3397C>G (p.Pro1133Ala) c.3430C>G (p.Pro1144Ala) | |
3 | g.38575404G>T | CA352138209 | SCN5A | c.3556C>A (p.Pro1186Thr) c.3559C>A (p.Pro1187Thr) c.3397C>A (p.Pro1133Thr) c.3430C>A (p.Pro1144Thr) | |
3 | g.38575405G>A | CA433134058 | SCN5A | c.3555C>T (p.Ala1185=) c.3558C>T (p.Ala1186=) c.3396C>T (p.Ala1132=) c.3429C>T (p.Ala1143=) | |
3 | g.38575405G>C | CA433134059 | SCN5A | c.3555C>G (p.Ala1185=) c.3558C>G (p.Ala1186=) c.3396C>G (p.Ala1132=) c.3429C>G (p.Ala1143=) | |
3 | g.38575405G>T | CA433134060 | SCN5A | c.3555C>A (p.Ala1185=) c.3558C>A (p.Ala1186=) c.3396C>A (p.Ala1132=) c.3429C>A (p.Ala1143=) | gnomAD v3 gnomAD v4 |
3 | g.38575406G>A | CA352138212 | SCN5A | c.3554C>T (p.Ala1185Val) c.3557C>T (p.Ala1186Val) c.3395C>T (p.Ala1132Val) c.3428C>T (p.Ala1143Val) | |
3 | g.38575406G>C | CA352138210 | SCN5A | c.3554C>G (p.Ala1185Gly) c.3557C>G (p.Ala1186Gly) c.3395C>G (p.Ala1132Gly) c.3428C>G (p.Ala1143Gly) | |
3 | g.38575406G= | CA1358572573 | SCN5A | c.3554C= (p.Ala1185=) c.3557C= (p.Ala1186=) c.3395C= (p.Ala1132=) c.3428C= (p.Ala1143=) | |
3 | g.38575406G>T | CA352138211 | SCN5A | c.3554C>A (p.Ala1185Asp) c.3557C>A (p.Ala1186Asp) c.3395C>A (p.Ala1132Asp) c.3428C>A (p.Ala1143Asp) | ClinVar dbSNP |
3 | g.38575407C>A | CA352138213 | SCN5A | c.3553G>T (p.Ala1185Ser) c.3556G>T (p.Ala1186Ser) c.3394G>T (p.Ala1132Ser) c.3427G>T (p.Ala1143Ser) | dbSNP gnomAD v4 |
3 | g.38575407C= | CA1358572574 | SCN5A | c.3553G= (p.Ala1185=) c.3556G= (p.Ala1186=) c.3394G= (p.Ala1132=) c.3427G= (p.Ala1143=) | |
3 | g.38575407C>G | CA352138214 | SCN5A | c.3553G>C (p.Ala1185Pro) c.3556G>C (p.Ala1186Pro) c.3394G>C (p.Ala1132Pro) c.3427G>C (p.Ala1143Pro) | |
3 | g.38575407C>T | CA017261 | SCN5A | c.3553G>A (p.Ala1185Thr) c.3556G>A (p.Ala1186Thr) c.3394G>A (p.Ala1132Thr) c.3427G>A (p.Ala1143Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575408C>A | CA352138215 | SCN5A | c.3552G>T (p.Gln1184His) c.3555G>T (p.Gln1185His) c.3393G>T (p.Gln1131His) c.3426G>T (p.Gln1142His) | gnomAD v4 |
3 | g.38575408C>G | CA352138216 | SCN5A | c.3552G>C (p.Gln1184His) c.3555G>C (p.Gln1185His) c.3393G>C (p.Gln1131His) c.3426G>C (p.Gln1142His) | |
3 | g.38575408C>T | CA433134061 | SCN5A | c.3552G>A (p.Gln1184=) c.3555G>A (p.Gln1185=) c.3393G>A (p.Gln1131=) c.3426G>A (p.Gln1142=) | gnomAD v4 |
3 | g.38575409T>A | CA352138218 | SCN5A | c.3551A>T (p.Gln1184Leu) c.3554A>T (p.Gln1185Leu) c.3392A>T (p.Gln1131Leu) c.3425A>T (p.Gln1142Leu) | gnomAD v4 |
3 | g.38575409T>C | CA72923237 | SCN5A | c.3551A>G (p.Gln1184Arg) c.3554A>G (p.Gln1185Arg) c.3392A>G (p.Gln1131Arg) c.3425A>G (p.Gln1142Arg) | ClinVar dbSNP |
3 | g.38575409T>G | CA352138217 | SCN5A | c.3551A>C (p.Gln1184Pro) c.3554A>C (p.Gln1185Pro) c.3392A>C (p.Gln1131Pro) c.3425A>C (p.Gln1142Pro) | gnomAD v4 |
3 | g.38575409T= | CA1358572575 | SCN5A | c.3551A= (p.Gln1184=) c.3554A= (p.Gln1185=) c.3392A= (p.Gln1131=) c.3425A= (p.Gln1142=) | |
3 | g.38575413_38575414del | CA2586972094 | SCN5A | c.3550_3551del (p.Gln1184GlyfsTer?) c.3553_3554del (p.Gln1185GlyfsTer?) c.3391_3392del (p.Gln1131GlyfsTer?) c.3424_3425del (p.Gln1142GlyfsTer?) | |
3 | g.38575410G>A | CA017254 | SCN5A | c.3550C>T (p.Gln1184Ter) c.3553C>T (p.Gln1185Ter) c.3391C>T (p.Gln1131Ter) c.3424C>T (p.Gln1142Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.38575410G>C | CA352138219 | SCN5A | c.3550C>G (p.Gln1184Glu) c.3553C>G (p.Gln1185Glu) c.3391C>G (p.Gln1131Glu) c.3424C>G (p.Gln1142Glu) | |
3 | g.38575410G= | CA1358572576 | SCN5A | c.3550C= (p.Gln1184=) c.3553C= (p.Gln1185=) c.3391C= (p.Gln1131=) c.3424C= (p.Gln1142=) | |
3 | g.38575410G>T | CA352138220 | SCN5A | c.3550C>A (p.Gln1184Lys) c.3553C>A (p.Gln1185Lys) c.3391C>A (p.Gln1131Lys) c.3424C>A (p.Gln1142Lys) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575411T>A | CA433134062 | SCN5A | c.3549A>T (p.Thr1183=) c.3552A>T (p.Thr1184=) c.3390A>T (p.Thr1130=) c.3423A>T (p.Thr1141=) | |
3 | g.38575411T>C | CA433134063 | SCN5A | c.3549A>G (p.Thr1183=) c.3552A>G (p.Thr1184=) c.3390A>G (p.Thr1130=) c.3423A>G (p.Thr1141=) | |
3 | g.38575411T>G | CA433134064 | SCN5A | c.3549A>C (p.Thr1183=) c.3552A>C (p.Thr1184=) c.3390A>C (p.Thr1130=) c.3423A>C (p.Thr1141=) | |
3 | g.38575412G>A | CA352138221 | SCN5A | c.3548C>T (p.Thr1183Ile) c.3551C>T (p.Thr1184Ile) c.3389C>T (p.Thr1130Ile) c.3422C>T (p.Thr1141Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575412G>C | CA352138222 | SCN5A | c.3548C>G (p.Thr1183Arg) c.3551C>G (p.Thr1184Arg) c.3389C>G (p.Thr1130Arg) c.3422C>G (p.Thr1141Arg) | |
3 | g.38575412G= | CA1358572577 | SCN5A | c.3548C= (p.Thr1183=) c.3551C= (p.Thr1184=) c.3389C= (p.Thr1130=) c.3422C= (p.Thr1141=) | |
3 | g.38575412G>T | CA352138223 | SCN5A | c.3548C>A (p.Thr1183Lys) c.3551C>A (p.Thr1184Lys) c.3389C>A (p.Thr1130Lys) c.3422C>A (p.Thr1141Lys) | |
3 | g.38575413T>A | CA352138226 | SCN5A | c.3547A>T (p.Thr1183Ser) c.3550A>T (p.Thr1184Ser) c.3388A>T (p.Thr1130Ser) c.3421A>T (p.Thr1141Ser) | |
3 | g.38575413T>C | CA352138224 | SCN5A | c.3547A>G (p.Thr1183Ala) c.3550A>G (p.Thr1184Ala) c.3388A>G (p.Thr1130Ala) c.3421A>G (p.Thr1141Ala) | |
3 | g.38575413T>G | CA352138225 | SCN5A | c.3547A>C (p.Thr1183Pro) c.3550A>C (p.Thr1184Pro) c.3388A>C (p.Thr1130Pro) c.3421A>C (p.Thr1141Pro) | |
3 | g.38575414G>A | CA433134065 | SCN5A | c.3546C>T (p.Thr1182=) c.3549C>T (p.Thr1183=) c.3387C>T (p.Thr1129=) c.3420C>T (p.Thr1140=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575414G>C | CA433134066 | SCN5A | c.3546C>G (p.Thr1182=) c.3549C>G (p.Thr1183=) c.3387C>G (p.Thr1129=) c.3420C>G (p.Thr1140=) | |
3 | g.38575414G= | CA1358572578 | SCN5A | c.3546C= (p.Thr1182=) c.3549C= (p.Thr1183=) c.3387C= (p.Thr1129=) c.3420C= (p.Thr1140=) | |
3 | g.38575414G>T | CA433134067 | SCN5A | c.3546C>A (p.Thr1182=) c.3549C>A (p.Thr1183=) c.3387C>A (p.Thr1129=) c.3420C>A (p.Thr1140=) | ClinVar |
3 | g.38575415G>A | CA352138227 | SCN5A | c.3545C>T (p.Thr1182Ile) c.3548C>T (p.Thr1183Ile) c.3386C>T (p.Thr1129Ile) c.3419C>T (p.Thr1140Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575415G>C | CA352138228 | SCN5A | c.3545C>G (p.Thr1182Ser) c.3548C>G (p.Thr1183Ser) c.3386C>G (p.Thr1129Ser) c.3419C>G (p.Thr1140Ser) | dbSNP |
3 | g.38575415G= | CA1358572579 | SCN5A | c.3545C= (p.Thr1182=) c.3548C= (p.Thr1183=) c.3386C= (p.Thr1129=) c.3419C= (p.Thr1140=) | |
3 | g.38575415G>T | CA352138229 | SCN5A | c.3545C>A (p.Thr1182Asn) c.3548C>A (p.Thr1183Asn) c.3386C>A (p.Thr1129Asn) c.3419C>A (p.Thr1140Asn) | |
3 | g.38575416T>A | CA352138230 | SCN5A | c.3544A>T (p.Thr1182Ser) c.3547A>T (p.Thr1183Ser) c.3385A>T (p.Thr1129Ser) c.3418A>T (p.Thr1140Ser) | |
3 | g.38575416T>C | CA352138231 | SCN5A | c.3544A>G (p.Thr1182Ala) c.3547A>G (p.Thr1183Ala) c.3385A>G (p.Thr1129Ala) c.3418A>G (p.Thr1140Ala) | |
3 | g.38575416T>G | CA352138232 | SCN5A | c.3544A>C (p.Thr1182Pro) c.3547A>C (p.Thr1183Pro) c.3385A>C (p.Thr1129Pro) c.3418A>C (p.Thr1140Pro) | |
3 | g.38575417G>A | CA062013 | SCN5A | c.3543C>T (p.Asp1181=) c.3546C>T (p.Asp1182=) c.3384C>T (p.Asp1128=) c.3417C>T (p.Asp1139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575417G>C | CA352138233 | SCN5A | c.3543C>G (p.Asp1181Glu) c.3546C>G (p.Asp1182Glu) c.3384C>G (p.Asp1128Glu) c.3417C>G (p.Asp1139Glu) | |
3 | g.38575417G= | CA1358572580 | SCN5A | c.3543C= (p.Asp1181=) c.3546C= (p.Asp1182=) c.3384C= (p.Asp1128=) c.3417C= (p.Asp1139=) | |
3 | g.38575417G>T | CA352138234 | SCN5A | c.3543C>A (p.Asp1181Glu) c.3546C>A (p.Asp1182Glu) c.3384C>A (p.Asp1128Glu) c.3417C>A (p.Asp1139Glu) | gnomAD v4 |
3 | g.38575418T>A | CA352138235 | SCN5A | c.3542A>T (p.Asp1181Val) c.3545A>T (p.Asp1182Val) c.3383A>T (p.Asp1128Val) c.3416A>T (p.Asp1139Val) | gnomAD v4 |
3 | g.38575418T>C | CA352138236 | SCN5A | c.3542A>G (p.Asp1181Gly) c.3545A>G (p.Asp1182Gly) c.3383A>G (p.Asp1128Gly) c.3416A>G (p.Asp1139Gly) | gnomAD v4 |
3 | g.38575418T>G | CA352138237 | SCN5A | c.3542A>C (p.Asp1181Ala) c.3545A>C (p.Asp1182Ala) c.3383A>C (p.Asp1128Ala) c.3416A>C (p.Asp1139Ala) | |
3 | g.38575419C>A | CA352138238 | SCN5A | c.3541G>T (p.Asp1181Tyr) c.3544G>T (p.Asp1182Tyr) c.3382G>T (p.Asp1128Tyr) c.3415G>T (p.Asp1139Tyr) | |
3 | g.38575419C= | CA1358572581 | SCN5A | c.3541G= (p.Asp1181=) c.3544G= (p.Asp1182=) c.3382G= (p.Asp1128=) c.3415G= (p.Asp1139=) | |
3 | g.38575419C>G | CA352138240 | SCN5A | c.3541G>C (p.Asp1181His) c.3544G>C (p.Asp1182His) c.3382G>C (p.Asp1128His) c.3415G>C (p.Asp1139His) | |
3 | g.38575419C>T | CA352138239 | SCN5A | c.3541G>A (p.Asp1181Asn) c.3544G>A (p.Asp1182Asn) c.3382G>A (p.Asp1128Asn) c.3415G>A (p.Asp1139Asn) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575420C>A | CA433134068 | SCN5A | c.3540G>T (p.Val1180=) c.3543G>T (p.Val1181=) c.3381G>T (p.Val1127=) c.3414G>T (p.Val1138=) | gnomAD v4 |
3 | g.38575420C= | CA1358572582 | SCN5A | c.3540G= (p.Val1180=) c.3543G= (p.Val1181=) c.3381G= (p.Val1127=) c.3414G= (p.Val1138=) | |
3 | g.38575420C>G | CA433134069 | SCN5A | c.3540G>C (p.Val1180=) c.3543G>C (p.Val1181=) c.3381G>C (p.Val1127=) c.3414G>C (p.Val1138=) | |
3 | g.38575420C>T | CA433134070 | SCN5A | c.3540G>A (p.Val1180=) c.3543G>A (p.Val1181=) c.3381G>A (p.Val1127=) c.3414G>A (p.Val1138=) | ClinVar dbSNP |
3 | g.38575421A= | CA1358572583 | SCN5A | c.3539T= (p.Val1180=) c.3542T= (p.Val1181=) c.3380T= (p.Val1127=) c.3413T= (p.Val1138=) | |
3 | g.38575421A>C | CA352138241 | SCN5A | c.3539T>G (p.Val1180Gly) c.3542T>G (p.Val1181Gly) c.3380T>G (p.Val1127Gly) c.3413T>G (p.Val1138Gly) | |
3 | g.38575421A>G | CA062009 | SCN5A | c.3539T>C (p.Val1180Ala) c.3542T>C (p.Val1181Ala) c.3380T>C (p.Val1127Ala) c.3413T>C (p.Val1138Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575421A>T | CA352138242 | SCN5A | c.3539T>A (p.Val1180Glu) c.3542T>A (p.Val1181Glu) c.3380T>A (p.Val1127Glu) c.3413T>A (p.Val1138Glu) | |
3 | g.38575422C>A | CA017238 | SCN5A | c.3538G>T (p.Val1180Leu) c.3541G>T (p.Val1181Leu) c.3379G>T (p.Val1127Leu) c.3412G>T (p.Val1138Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575422C= | CA1358572584 | SCN5A | c.3538G= (p.Val1180=) c.3541G= (p.Val1181=) c.3379G= (p.Val1127=) c.3412G= (p.Val1138=) | |
3 | g.38575422C>G | CA352138243 | SCN5A | c.3538G>C (p.Val1180Leu) c.3541G>C (p.Val1181Leu) c.3379G>C (p.Val1127Leu) c.3412G>C (p.Val1138Leu) | |
3 | g.38575422C>T | CA352138244 | SCN5A | c.3538G>A (p.Val1180Met) c.3541G>A (p.Val1181Met) c.3379G>A (p.Val1127Met) c.3412G>A (p.Val1138Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575423C>A | CA433134071 | SCN5A | c.3537G>T (p.Ala1179=) c.3540G>T (p.Ala1180=) c.3378G>T (p.Ala1126=) c.3411G>T (p.Ala1137=) | ClinVar gnomAD v4 |
3 | g.38575423C= | CA1358572585 | SCN5A | c.3537G= (p.Ala1179=) c.3540G= (p.Ala1180=) c.3378G= (p.Ala1126=) c.3411G= (p.Ala1137=) | |
3 | g.38575423C>G | CA433134072 | SCN5A | c.3537G>C (p.Ala1179=) c.3540G>C (p.Ala1180=) c.3378G>C (p.Ala1126=) c.3411G>C (p.Ala1137=) | |
3 | g.38575423C>T | CA017231 | SCN5A | c.3537G>A (p.Ala1179=) c.3540G>A (p.Ala1180=) c.3378G>A (p.Ala1126=) c.3411G>A (p.Ala1137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575424G>A | CA017225 | SCN5A | c.3536C>T (p.Ala1179Val) c.3539C>T (p.Ala1180Val) c.3377C>T (p.Ala1126Val) c.3410C>T (p.Ala1137Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575424G>C | CA352138245 | SCN5A | c.3536C>G (p.Ala1179Gly) c.3539C>G (p.Ala1180Gly) c.3377C>G (p.Ala1126Gly) c.3410C>G (p.Ala1137Gly) | |
3 | g.38575424G= | CA1358572586 | SCN5A | c.3536C= (p.Ala1179=) c.3539C= (p.Ala1180=) c.3377C= (p.Ala1126=) c.3410C= (p.Ala1137=) | |
3 | g.38575424G>T | CA352138246 | SCN5A | c.3536C>A (p.Ala1179Glu) c.3539C>A (p.Ala1180Glu) c.3377C>A (p.Ala1126Glu) c.3410C>A (p.Ala1137Glu) | |
3 | g.38575425C>A | CA352138247 | SCN5A | c.3535G>T (p.Ala1179Ser) c.3538G>T (p.Ala1180Ser) c.3376G>T (p.Ala1126Ser) c.3409G>T (p.Ala1137Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38575425C= | CA1358572587 | SCN5A | c.3535G= (p.Ala1179=) c.3538G= (p.Ala1180=) c.3376G= (p.Ala1126=) c.3409G= (p.Ala1137=) | |
3 | g.38575425C>G | CA352138248 | SCN5A | c.3535G>C (p.Ala1179Pro) c.3538G>C (p.Ala1180Pro) c.3376G>C (p.Ala1126Pro) c.3409G>C (p.Ala1137Pro) | |
3 | g.38575425C>T | CA352138249 | SCN5A | c.3535G>A (p.Ala1179Thr) c.3538G>A (p.Ala1180Thr) c.3376G>A (p.Ala1126Thr) c.3409G>A (p.Ala1137Thr) | ClinVar dbSNP |
3 | g.38575426A= | CA1358572588 | SCN5A | c.3534T= (p.Cys1178=) c.3537T= (p.Cys1179=) c.3375T= (p.Cys1125=) c.3408T= (p.Cys1136=) | |
3 | g.38575426A>C | CA352138250 | SCN5A | c.3534T>G (p.Cys1178Trp) c.3537T>G (p.Cys1179Trp) c.3375T>G (p.Cys1125Trp) c.3408T>G (p.Cys1136Trp) | |
3 | g.38575426A>G | CA061992 | SCN5A | c.3534T>C (p.Cys1178=) c.3537T>C (p.Cys1179=) c.3375T>C (p.Cys1125=) c.3408T>C (p.Cys1136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575426A>T | CA352138251 | SCN5A | c.3534T>A (p.Cys1178Ter) c.3537T>A (p.Cys1179Ter) c.3375T>A (p.Cys1125Ter) c.3408T>A (p.Cys1136Ter) | dbSNP |
3 | g.38575427C>A | CA352138252 | SCN5A | c.3533G>T (p.Cys1178Phe) c.3536G>T (p.Cys1179Phe) c.3374G>T (p.Cys1125Phe) c.3407G>T (p.Cys1136Phe) | |
3 | g.38575427C>G | CA352138254 | SCN5A | c.3533G>C (p.Cys1178Ser) c.3536G>C (p.Cys1179Ser) c.3374G>C (p.Cys1125Ser) c.3407G>C (p.Cys1136Ser) | ClinVar |
3 | g.38575427C>T | CA352138253 | SCN5A | c.3533G>A (p.Cys1178Tyr) c.3536G>A (p.Cys1179Tyr) c.3374G>A (p.Cys1125Tyr) c.3407G>A (p.Cys1136Tyr) | gnomAD v4 |
3 | g.38575428A>C | CA352138255 | SCN5A | c.3532T>G (p.Cys1178Gly) c.3535T>G (p.Cys1179Gly) c.3373T>G (p.Cys1125Gly) c.3406T>G (p.Cys1136Gly) | |
3 | g.38575428A>G | CA352138256 | SCN5A | c.3532T>C (p.Cys1178Arg) c.3535T>C (p.Cys1179Arg) c.3373T>C (p.Cys1125Arg) c.3406T>C (p.Cys1136Arg) | |
3 | g.38575428A>T | CA352138257 | SCN5A | c.3532T>A (p.Cys1178Ser) c.3535T>A (p.Cys1179Ser) c.3373T>A (p.Cys1125Ser) c.3406T>A (p.Cys1136Ser) | ClinVar dbSNP |
3 | g.38575429G>A | CA433134074 | SCN5A | c.3531C>T (p.Cys1177=) c.3534C>T (p.Cys1178=) c.3372C>T (p.Cys1124=) c.3405C>T (p.Cys1135=) | |
3 | g.38575429G>C | CA352138258 | SCN5A | c.3531C>G (p.Cys1177Trp) c.3534C>G (p.Cys1178Trp) c.3372C>G (p.Cys1124Trp) c.3405C>G (p.Cys1135Trp) | |
3 | g.38575429G= | CA1358572589 | SCN5A | c.3531C= (p.Cys1177=) c.3534C= (p.Cys1178=) c.3372C= (p.Cys1124=) c.3405C= (p.Cys1135=) | |
3 | g.38575429G>T | CA352138259 | SCN5A | c.3531C>A (p.Cys1177Ter) c.3534C>A (p.Cys1178Ter) c.3372C>A (p.Cys1124Ter) c.3405C>A (p.Cys1135Ter) | dbSNP gnomAD v4 |
3 | g.38575429_38575430insGCCC | CA2665112176 | SCN5A | c.3530_3531insGGGC (p.Cys1177TrpfsTer?) c.3533_3534insGGGC (p.Cys1178TrpfsTer?) c.3371_3372insGGGC (p.Cys1124TrpfsTer?) c.3404_3405insGGGC (p.Cys1135TrpfsTer?) | dbSNP gnomAD v4 |
3 | g.38575430C>A | CA352138260 | SCN5A | c.3530G>T (p.Cys1177Phe) c.3533G>T (p.Cys1178Phe) c.3371G>T (p.Cys1124Phe) c.3404G>T (p.Cys1135Phe) | gnomAD v4 |
3 | g.38575430C= | CA1358572590 | SCN5A | c.3530G= (p.Cys1177=) c.3533G= (p.Cys1178=) c.3371G= (p.Cys1124=) c.3404G= (p.Cys1135=) | |
3 | g.38575430C>G | CA352138261 | SCN5A | c.3530G>C (p.Cys1177Ser) c.3533G>C (p.Cys1178Ser) c.3371G>C (p.Cys1124Ser) c.3404G>C (p.Cys1135Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38575430C>T | CA352138262 | SCN5A | c.3530G>A (p.Cys1177Tyr) c.3533G>A (p.Cys1178Tyr) c.3371G>A (p.Cys1124Tyr) c.3404G>A (p.Cys1135Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575431A>C | CA352138263 | SCN5A | c.3529T>G (p.Cys1177Gly) c.3532T>G (p.Cys1178Gly) c.3370T>G (p.Cys1124Gly) c.3403T>G (p.Cys1135Gly) | |
3 | g.38575431A>G | CA352138264 | SCN5A | c.3529T>C (p.Cys1177Arg) c.3532T>C (p.Cys1178Arg) c.3370T>C (p.Cys1124Arg) c.3403T>C (p.Cys1135Arg) | |
3 | g.38575431A>T | CA352138265 | SCN5A | c.3529T>A (p.Cys1177Ser) c.3532T>A (p.Cys1178Ser) c.3370T>A (p.Cys1124Ser) c.3403T>A (p.Cys1135Ser) | |
3 | g.38575432G>A | CA061984 | SCN5A | c.3528C>T (p.Pro1176=) c.3531C>T (p.Pro1177=) c.3369C>T (p.Pro1123=) c.3402C>T (p.Pro1134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575432G>C | CA433134076 | SCN5A | c.3528C>G (p.Pro1176=) c.3531C>G (p.Pro1177=) c.3369C>G (p.Pro1123=) c.3402C>G (p.Pro1134=) | |
3 | g.38575432G= | CA1358572591 | SCN5A | c.3528C= (p.Pro1176=) c.3531C= (p.Pro1177=) c.3369C= (p.Pro1123=) c.3402C= (p.Pro1134=) | |
3 | g.38575432G>T | CA433134077 | SCN5A | c.3528C>A (p.Pro1176=) c.3531C>A (p.Pro1177=) c.3369C>A (p.Pro1123=) c.3402C>A (p.Pro1134=) | gnomAD v4 |
3 | g.38575433G>A | CA352138268 | SCN5A | c.3527C>T (p.Pro1176Leu) c.3530C>T (p.Pro1177Leu) c.3368C>T (p.Pro1123Leu) c.3401C>T (p.Pro1134Leu) | gnomAD v4 |
3 | g.38575433G>C | CA352138266 | SCN5A | c.3527C>G (p.Pro1176Arg) c.3530C>G (p.Pro1177Arg) c.3368C>G (p.Pro1123Arg) c.3401C>G (p.Pro1134Arg) | |
3 | g.38575433G>T | CA352138267 | SCN5A | c.3527C>A (p.Pro1176His) c.3530C>A (p.Pro1177His) c.3368C>A (p.Pro1123His) c.3401C>A (p.Pro1134His) | |
3 | g.38575434G>A | CA352138269 | SCN5A | c.3526C>T (p.Pro1176Ser) c.3529C>T (p.Pro1177Ser) c.3367C>T (p.Pro1123Ser) c.3400C>T (p.Pro1134Ser) | gnomAD v4 |
3 | g.38575434G>C | CA352138270 | SCN5A | c.3526C>G (p.Pro1176Ala) c.3529C>G (p.Pro1177Ala) c.3367C>G (p.Pro1123Ala) c.3400C>G (p.Pro1134Ala) | |
3 | g.38575434G>T | CA352138271 | SCN5A | c.3526C>A (p.Pro1176Thr) c.3529C>A (p.Pro1177Thr) c.3367C>A (p.Pro1123Thr) c.3400C>A (p.Pro1134Thr) | gnomAD v4 |
3 | g.38575435A>C | CA352138272 | SCN5A | c.3525T>G (p.Cys1175Trp) c.3528T>G (p.Cys1176Trp) c.3366T>G (p.Cys1122Trp) c.3399T>G (p.Cys1133Trp) | |
3 | g.38575435A>G | CA433134078 | SCN5A | c.3525T>C (p.Cys1175=) c.3528T>C (p.Cys1176=) c.3366T>C (p.Cys1122=) c.3399T>C (p.Cys1133=) | |
3 | g.38575435A>T | CA352138273 | SCN5A | c.3525T>A (p.Cys1175Ter) c.3528T>A (p.Cys1176Ter) c.3366T>A (p.Cys1122Ter) c.3399T>A (p.Cys1133Ter) | |
3 | g.38575436C>A | CA352138274 | SCN5A | c.3524G>T (p.Cys1175Phe) c.3527G>T (p.Cys1176Phe) c.3365G>T (p.Cys1122Phe) c.3398G>T (p.Cys1133Phe) | gnomAD v4 |
3 | g.38575436C= | CA1358572592 | SCN5A | c.3524G= (p.Cys1175=) c.3527G= (p.Cys1176=) c.3365G= (p.Cys1122=) c.3398G= (p.Cys1133=) | |
3 | g.38575436C>G | CA352138275 | SCN5A | c.3524G>C (p.Cys1175Ser) c.3527G>C (p.Cys1176Ser) c.3365G>C (p.Cys1122Ser) c.3398G>C (p.Cys1133Ser) | |
3 | g.38575436C>T | CA352138276 | SCN5A | c.3524G>A (p.Cys1175Tyr) c.3527G>A (p.Cys1176Tyr) c.3365G>A (p.Cys1122Tyr) c.3398G>A (p.Cys1133Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575437A= | CA1358572593 | SCN5A | c.3523T= (p.Cys1175=) c.3526T= (p.Cys1176=) c.3364T= (p.Cys1122=) c.3397T= (p.Cys1133=) | |
3 | g.38575437A>C | CA352138277 | SCN5A | c.3523T>G (p.Cys1175Gly) c.3526T>G (p.Cys1176Gly) c.3364T>G (p.Cys1122Gly) c.3397T>G (p.Cys1133Gly) | |
3 | g.38575437A>G | CA352138278 | SCN5A | c.3523T>C (p.Cys1175Arg) c.3526T>C (p.Cys1176Arg) c.3364T>C (p.Cys1122Arg) c.3397T>C (p.Cys1133Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575437A>T | CA352138279 | SCN5A | c.3523T>A (p.Cys1175Ser) c.3526T>A (p.Cys1176Ser) c.3364T>A (p.Cys1122Ser) c.3397T>A (p.Cys1133Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575438G>A | CA433134080 | SCN5A | c.3522C>T (p.Arg1174=) c.3525C>T (p.Arg1175=) c.3363C>T (p.Arg1121=) c.3396C>T (p.Arg1132=) | |
3 | g.38575438G>C | CA433134081 | SCN5A | c.3522C>G (p.Arg1174=) c.3525C>G (p.Arg1175=) c.3363C>G (p.Arg1121=) c.3396C>G (p.Arg1132=) | |
3 | g.38575438G>T | CA433134079 | SCN5A | c.3522C>A (p.Arg1174=) c.3525C>A (p.Arg1175=) c.3363C>A (p.Arg1121=) c.3396C>A (p.Arg1132=) | gnomAD v4 |
3 | g.38575439C>A | CA352138281 | SCN5A | c.3521G>T (p.Arg1174Leu) c.3524G>T (p.Arg1175Leu) c.3362G>T (p.Arg1121Leu) c.3395G>T (p.Arg1132Leu) | gnomAD v4 |
3 | g.38575439C= | CA1358572594 | SCN5A | c.3521G= (p.Arg1174=) c.3524G= (p.Arg1175=) c.3362G= (p.Arg1121=) c.3395G= (p.Arg1132=) | |
3 | g.38575439C>G | CA352138280 | SCN5A | c.3521G>C (p.Arg1174Pro) c.3524G>C (p.Arg1175Pro) c.3362G>C (p.Arg1121Pro) c.3395G>C (p.Arg1132Pro) | |
3 | g.38575439C>T | CA061975 | SCN5A | c.3521G>A (p.Arg1174His) c.3524G>A (p.Arg1175His) c.3362G>A (p.Arg1121His) c.3395G>A (p.Arg1132His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575440G>A | CA017218 | SCN5A | c.3520C>T (p.Arg1174Cys) c.3523C>T (p.Arg1175Cys) c.3361C>T (p.Arg1121Cys) c.3394C>T (p.Arg1132Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575440G>C | CA352138282 | SCN5A | c.3520C>G (p.Arg1174Gly) c.3523C>G (p.Arg1175Gly) c.3361C>G (p.Arg1121Gly) c.3394C>G (p.Arg1132Gly) | ClinVar |
3 | g.38575440G= | CA1358572595 | SCN5A | c.3520C= (p.Arg1174=) c.3523C= (p.Arg1175=) c.3361C= (p.Arg1121=) c.3394C= (p.Arg1132=) | |
3 | g.38575440G>T | CA352138283 | SCN5A | c.3520C>A (p.Arg1174Ser) c.3523C>A (p.Arg1175Ser) c.3361C>A (p.Arg1121Ser) c.3394C>A (p.Arg1132Ser) | |
3 | g.38575441C>A | CA433134082 | SCN5A | c.3519G>T (p.Arg1173=) c.3522G>T (p.Arg1174=) c.3360G>T (p.Arg1120=) c.3393G>T (p.Arg1131=) | gnomAD v4 |
3 | g.38575441C= | CA1358572596 | SCN5A | c.3519G= (p.Arg1173=) c.3522G= (p.Arg1174=) c.3360G= (p.Arg1120=) c.3393G= (p.Arg1131=) | |
3 | g.38575441C>G | CA433134083 | SCN5A | c.3519G>C (p.Arg1173=) c.3522G>C (p.Arg1174=) c.3360G>C (p.Arg1120=) c.3393G>C (p.Arg1131=) | |
3 | g.38575441C>T | CA433134084 | SCN5A | c.3519G>A (p.Arg1173=) c.3522G>A (p.Arg1174=) c.3360G>A (p.Arg1120=) c.3393G>A (p.Arg1131=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575442del | CA2665112177 | SCN5A | c.3519del (p.Arg1174AlafsTer?) c.3522del (p.Arg1175AlafsTer?) c.3360del (p.Arg1121AlafsTer?) c.3393del (p.Arg1132AlafsTer?) | gnomAD v4 |
3 | g.38575442C>A | CA352138284 | SCN5A | c.3518G>T (p.Arg1173Leu) c.3521G>T (p.Arg1174Leu) c.3359G>T (p.Arg1120Leu) c.3392G>T (p.Arg1131Leu) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575442C= | CA1358572597 | SCN5A | c.3518G= (p.Arg1173=) c.3521G= (p.Arg1174=) c.3359G= (p.Arg1120=) c.3392G= (p.Arg1131=) | |
3 | g.38575442C>G | CA352138285 | SCN5A | c.3518G>C (p.Arg1173Pro) c.3521G>C (p.Arg1174Pro) c.3359G>C (p.Arg1120Pro) c.3392G>C (p.Arg1131Pro) | |
3 | g.38575442C>T | CA061967 | SCN5A | c.3518G>A (p.Arg1173Gln) c.3521G>A (p.Arg1174Gln) c.3359G>A (p.Arg1120Gln) c.3392G>A (p.Arg1131Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575443G>A | CA061963 | SCN5A | c.3517C>T (p.Arg1173Trp) c.3520C>T (p.Arg1174Trp) c.3358C>T (p.Arg1120Trp) c.3391C>T (p.Arg1131Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575443G>C | CA352138286 | SCN5A | c.3517C>G (p.Arg1173Gly) c.3520C>G (p.Arg1174Gly) c.3358C>G (p.Arg1120Gly) c.3391C>G (p.Arg1131Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575443G= | CA1358572598 | SCN5A | c.3517C= (p.Arg1173=) c.3520C= (p.Arg1174=) c.3358C= (p.Arg1120=) c.3391C= (p.Arg1131=) | |
3 | g.38575443G>T | CA433134085 | SCN5A | c.3517C>A (p.Arg1173=) c.3520C>A (p.Arg1174=) c.3358C>A (p.Arg1120=) c.3391C>A (p.Arg1131=) | gnomAD v4 |
3 | g.38575444G>A | CA433134086 | SCN5A | c.3516C>T (p.Val1172=) c.3519C>T (p.Val1173=) c.3357C>T (p.Val1119=) c.3390C>T (p.Val1130=) | |
3 | g.38575444G>C | CA433134087 | SCN5A | c.3516C>G (p.Val1172=) c.3519C>G (p.Val1173=) c.3357C>G (p.Val1119=) c.3390C>G (p.Val1130=) | |
3 | g.38575444G>T | CA433134088 | SCN5A | c.3516C>A (p.Val1172=) c.3519C>A (p.Val1173=) c.3357C>A (p.Val1119=) c.3390C>A (p.Val1130=) | gnomAD v4 |
3 | g.38575444_38575446delinsGAC | CA1358572599 | SCN5A | c.3514_3516delinsGTC (p.Val1172=) c.3517_3519delinsGTC (p.Val1173=) c.3355_3357delinsGTC (p.Val1119=) c.3388_3390delinsGTC (p.Val1130=) | |
3 | g.38575445A= | CA1358572600 | SCN5A | c.3515T= (p.Val1172=) c.3518T= (p.Val1173=) c.3356T= (p.Val1119=) c.3389T= (p.Val1130=) | |
3 | g.38575445A>C | CA352138287 | SCN5A | c.3515T>G (p.Val1172Gly) c.3518T>G (p.Val1173Gly) c.3356T>G (p.Val1119Gly) c.3389T>G (p.Val1130Gly) | |
3 | g.38575445A>G | CA352138288 | SCN5A | c.3515T>C (p.Val1172Ala) c.3518T>C (p.Val1173Ala) c.3356T>C (p.Val1119Ala) c.3389T>C (p.Val1130Ala) | |
3 | g.38575445A>T | CA061959 | SCN5A | c.3515T>A (p.Val1172Asp) c.3518T>A (p.Val1173Asp) c.3356T>A (p.Val1119Asp) c.3389T>A (p.Val1130Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575448_38575449del | CA017210 | SCN5A | c.3514_3515del (p.Val1172ProfsTer?) c.3517_3518del (p.Val1173ProfsTer?) c.3355_3356del (p.Val1119ProfsTer?) c.3388_3389del (p.Val1130ProfsTer?) | ClinVar dbSNP |
3 | g.38575446C>A | CA352138290 | SCN5A | c.3514G>T (p.Val1172Phe) c.3517G>T (p.Val1173Phe) c.3355G>T (p.Val1119Phe) c.3388G>T (p.Val1130Phe) | gnomAD v4 |
3 | g.38575446C= | CA1358572601 | SCN5A | c.3514G= (p.Val1172=) c.3517G= (p.Val1173=) c.3355G= (p.Val1119=) c.3388G= (p.Val1130=) | |
3 | g.38575446C>G | CA352138291 | SCN5A | c.3514G>C (p.Val1172Leu) c.3517G>C (p.Val1173Leu) c.3355G>C (p.Val1119Leu) c.3388G>C (p.Val1130Leu) | gnomAD v4 |
3 | g.38575446C>T | CA352138289 | SCN5A | c.3514G>A (p.Val1172Ile) c.3517G>A (p.Val1173Ile) c.3355G>A (p.Val1119Ile) c.3388G>A (p.Val1130Ile) | ClinVar dbSNP |
3 | g.38575447A= | CA1358572602 | SCN5A | c.3513T= (p.Cys1171=) c.3516T= (p.Cys1172=) c.3354T= (p.Cys1118=) c.3387T= (p.Cys1129=) | |
3 | g.38575447A>C | CA352138293 | SCN5A | c.3513T>G (p.Cys1171Trp) c.3516T>G (p.Cys1172Trp) c.3354T>G (p.Cys1118Trp) c.3387T>G (p.Cys1129Trp) | |
3 | g.38575447A>G | CA433134089 | SCN5A | c.3513T>C (p.Cys1171=) c.3516T>C (p.Cys1172=) c.3354T>C (p.Cys1118=) c.3387T>C (p.Cys1129=) | ClinVar |
3 | g.38575447A>T | CA352138292 | SCN5A | c.3513T>A (p.Cys1171Ter) c.3516T>A (p.Cys1172Ter) c.3354T>A (p.Cys1118Ter) c.3387T>A (p.Cys1129Ter) | dbSNP |
3 | g.38575448C>A | CA352138295 | SCN5A | c.3512G>T (p.Cys1171Phe) c.3515G>T (p.Cys1172Phe) c.3353G>T (p.Cys1118Phe) c.3386G>T (p.Cys1129Phe) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575448C= | CA1358572603 | SCN5A | c.3512G= (p.Cys1171=) c.3515G= (p.Cys1172=) c.3353G= (p.Cys1118=) c.3386G= (p.Cys1129=) | |
3 | g.38575448C>G | CA352138294 | SCN5A | c.3512G>C (p.Cys1171Ser) c.3515G>C (p.Cys1172Ser) c.3353G>C (p.Cys1118Ser) c.3386G>C (p.Cys1129Ser) | gnomAD v4 |
3 | g.38575448C>T | CA352138296 | SCN5A | c.3512G>A (p.Cys1171Tyr) c.3515G>A (p.Cys1172Tyr) c.3353G>A (p.Cys1118Tyr) c.3386G>A (p.Cys1129Tyr) | gnomAD v4 |
3 | g.38575449A>C | CA352138297 | SCN5A | c.3511T>G (p.Cys1171Gly) c.3514T>G (p.Cys1172Gly) c.3352T>G (p.Cys1118Gly) c.3385T>G (p.Cys1129Gly) | |
3 | g.38575449A>G | CA352138299 | SCN5A | c.3511T>C (p.Cys1171Arg) c.3514T>C (p.Cys1172Arg) c.3352T>C (p.Cys1118Arg) c.3385T>C (p.Cys1129Arg) | |
3 | g.38575449A>T | CA352138298 | SCN5A | c.3511T>A (p.Cys1171Ser) c.3514T>A (p.Cys1172Ser) c.3352T>A (p.Cys1118Ser) c.3385T>A (p.Cys1129Ser) | gnomAD v4 |
3 | g.38575450G>A | CA433134090 | SCN5A | c.3510C>T (p.Gly1170=) c.3513C>T (p.Gly1171=) c.3351C>T (p.Gly1117=) c.3384C>T (p.Gly1128=) | gnomAD v4 |
3 | g.38575450G>C | CA433134091 | SCN5A | c.3510C>G (p.Gly1170=) c.3513C>G (p.Gly1171=) c.3351C>G (p.Gly1117=) c.3384C>G (p.Gly1128=) | |
3 | g.38575450G>T | CA433134092 | SCN5A | c.3510C>A (p.Gly1170=) c.3513C>A (p.Gly1171=) c.3351C>A (p.Gly1117=) c.3384C>A (p.Gly1128=) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575451C>A | CA352138300 | SCN5A | c.3509G>T (p.Gly1170Val) c.3512G>T (p.Gly1171Val) c.3350G>T (p.Gly1117Val) c.3383G>T (p.Gly1128Val) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575451C= | CA1358572604 | SCN5A | c.3509G= (p.Gly1170=) c.3512G= (p.Gly1171=) c.3350G= (p.Gly1117=) c.3383G= (p.Gly1128=) | |
3 | g.38575451C>G | CA352138301 | SCN5A | c.3509G>C (p.Gly1170Ala) c.3512G>C (p.Gly1171Ala) c.3350G>C (p.Gly1117Ala) c.3383G>C (p.Gly1128Ala) | |
3 | g.38575451C>T | CA10582192 | SCN5A | c.3509G>A (p.Gly1170Asp) c.3512G>A (p.Gly1171Asp) c.3350G>A (p.Gly1117Asp) c.3383G>A (p.Gly1128Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.38575452C>A | CA352138302 | SCN5A | c.3509-1G>T (n.3509-1G>T) c.3512-1G>T (n.3512-1G>T) c.3350-1G>T (n.3350-1G>T) c.3383-1G>T (n.3383-1G>T) | gnomAD v4 |
3 | g.38575452C= | CA1358572605 | SCN5A | c.3509-1G= (n.3509-1G=) c.3512-1G= (n.3512-1G=) c.3350-1G= (n.3350-1G=) c.3383-1G= (n.3383-1G=) | |
3 | g.38575452C>G | CA352138303 | SCN5A | c.3509-1G>C (n.3509-1G>C) c.3512-1G>C (n.3512-1G>C) c.3350-1G>C (n.3350-1G>C) c.3383-1G>C (n.3383-1G>C) | ClinVar dbSNP |
3 | g.38575452C>T | CA352138304 | SCN5A | c.3509-1G>A (n.3509-1G>A) c.3512-1G>A (n.3512-1G>A) c.3350-1G>A (n.3350-1G>A) c.3383-1G>A (n.3383-1G>A) | ClinVar dbSNP |
3 | g.38575453T>A | CA352138305 | SCN5A | c.3509-2A>T (n.3509-2A>T) c.3512-2A>T (n.3512-2A>T) c.3350-2A>T (n.3350-2A>T) c.3383-2A>T (n.3383-2A>T) | |
3 | g.38575453T>C | CA352138306 | SCN5A | c.3509-2A>G (n.3509-2A>G) c.3512-2A>G (n.3512-2A>G) c.3350-2A>G (n.3350-2A>G) c.3383-2A>G (n.3383-2A>G) | gnomAD v4 |
3 | g.38575453T>G | CA352138307 | SCN5A | c.3509-2A>C (n.3509-2A>C) c.3512-2A>C (n.3512-2A>C) c.3350-2A>C (n.3350-2A>C) c.3383-2A>C (n.3383-2A>C) | |
3 | g.38575454A= | CA1358572606 | SCN5A | c.3509-3T= (n.3509-3T=) c.3512-3T= (n.3512-3T=) c.3350-3T= (n.3350-3T=) c.3383-3T= (n.3383-3T=) | |
3 | g.38575454A>G | CA72923265 | SCN5A | c.3509-3T>C (n.3509-3T>C) c.3512-3T>C (n.3512-3T>C) c.3350-3T>C (n.3350-3T>C) c.3383-3T>C (n.3383-3T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575456G>A | CA2665112178 | SCN5A | c.3509-5C>T (n.3509-5C>T) c.3512-5C>T (n.3512-5C>T) c.3350-5C>T (n.3350-5C>T) c.3383-5C>T (n.3383-5C>T) | gnomAD v4 |
3 | g.38575456G>C | CA2577553101 | SCN5A | c.3509-5C>G (n.3509-5C>G) c.3512-5C>G (n.3512-5C>G) c.3350-5C>G (n.3350-5C>G) c.3383-5C>G (n.3383-5C>G) | |
3 | g.38575456G>T | CA2665112179 | SCN5A | c.3509-5C>A (n.3509-5C>A) c.3512-5C>A (n.3512-5C>A) c.3350-5C>A (n.3350-5C>A) c.3383-5C>A (n.3383-5C>A) | gnomAD v4 |
3 | g.38575458del | CA2577553100 | SCN5A | c.3509-5del (n.3509-5del) c.3512-5del (n.3512-5del) c.3350-5del (n.3350-5del) c.3383-5del (n.3383-5del) | |
3 | g.38575457G>A | CA2499216747 | SCN5A | c.3509-6C>T (n.3509-6C>T) c.3512-6C>T (n.3512-6C>T) c.3350-6C>T (n.3350-6C>T) c.3383-6C>T (n.3383-6C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.38575457_38575459delinsGGA | CA1358572607 | SCN5A | c.3509-8_3509-6delinsTCC (n.3509-8_3509-6delinsTCC) c.3512-8_3512-6delinsTCC (n.3512-8_3512-6delinsTCC) c.3350-8_3350-6delinsTCC (n.3350-8_3350-6delinsTCC) c.3383-8_3383-6delinsTCC (n.3383-8_3383-6delinsTCC) | |
3 | g.38575458G>A | CA2665112180 | SCN5A | c.3509-7C>T (n.3509-7C>T) c.3512-7C>T (n.3512-7C>T) c.3350-7C>T (n.3350-7C>T) c.3383-7C>T (n.3383-7C>T) | gnomAD v4 |
3 | g.38575458G>C | CA2573136260 | SCN5A | c.3509-7C>G (n.3509-7C>G) c.3512-7C>G (n.3512-7C>G) c.3350-7C>G (n.3350-7C>G) c.3383-7C>G (n.3383-7C>G) | ClinVar dbSNP |
3 | g.38575458G>T | CA2665112181 | SCN5A | c.3509-7C>A (n.3509-7C>A) c.3512-7C>A (n.3512-7C>A) c.3350-7C>A (n.3350-7C>A) c.3383-7C>A (n.3383-7C>A) | gnomAD v4 |
3 | g.38575463_38575464del | CA542615676 | SCN5A | c.3509-8_3509-7del (n.3509-8_3509-7del) c.3512-8_3512-7del (n.3512-8_3512-7del) c.3350-8_3350-7del (n.3350-8_3350-7del) c.3383-8_3383-7del (n.3383-8_3383-7del) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575459A= | CA1358572608 | SCN5A | c.3509-8T= (n.3509-8T=) c.3512-8T= (n.3512-8T=) c.3350-8T= (n.3350-8T=) c.3383-8T= (n.3383-8T=) | |
3 | g.38575459A>G | CA542615677 | SCN5A | c.3509-8T>C (n.3509-8T>C) c.3512-8T>C (n.3512-8T>C) c.3350-8T>C (n.3350-8T>C) c.3383-8T>C (n.3383-8T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575460G>A | CA542615678 | SCN5A | c.3509-9C>T (n.3509-9C>T) c.3512-9C>T (n.3512-9C>T) c.3350-9C>T (n.3350-9C>T) c.3383-9C>T (n.3383-9C>T) | ClinVar dbSNP gnomAD v2 |
3 | g.38575460G= | CA1358572609 | SCN5A | c.3509-9C= (n.3509-9C=) c.3512-9C= (n.3512-9C=) c.3350-9C= (n.3350-9C=) c.3383-9C= (n.3383-9C=) | |
3 | g.38575460G>T | CA2665112182 | SCN5A | c.3509-9C>A (n.3509-9C>A) c.3512-9C>A (n.3512-9C>A) c.3350-9C>A (n.3350-9C>A) c.3383-9C>A (n.3383-9C>A) | gnomAD v4 |
3 | g.38575461A>G | CA2755899291 | SCN5A | c.3509-10T>C (n.3509-10T>C) c.3512-10T>C (n.3512-10T>C) c.3350-10T>C (n.3350-10T>C) c.3383-10T>C (n.3383-10T>C) | |
3 | g.38575462G>A | CA1047000832 | SCN5A | c.3509-11C>T (n.3509-11C>T) c.3512-11C>T (n.3512-11C>T) c.3350-11C>T (n.3350-11C>T) c.3383-11C>T (n.3383-11C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575462G>C | CA1358572611 | SCN5A | c.3509-11C>G (n.3509-11C>G) c.3512-11C>G (n.3512-11C>G) c.3350-11C>G (n.3350-11C>G) c.3383-11C>G (n.3383-11C>G) | ClinVar dbSNP gnomAD v4 |
3 | g.38575462G= | CA1358572610 | SCN5A | c.3509-11C= (n.3509-11C=) c.3512-11C= (n.3512-11C=) c.3350-11C= (n.3350-11C=) c.3383-11C= (n.3383-11C=) | |
3 | g.38575462G>T | CA2665112183 | SCN5A | c.3509-11C>A (n.3509-11C>A) c.3512-11C>A (n.3512-11C>A) c.3350-11C>A (n.3350-11C>A) c.3383-11C>A (n.3383-11C>A) | gnomAD v4 |
3 | g.38575463A>G | CA2665112185 | SCN5A | c.3509-12T>C (n.3509-12T>C) c.3512-12T>C (n.3512-12T>C) c.3350-12T>C (n.3350-12T>C) c.3383-12T>C (n.3383-12T>C) | gnomAD v4 |
3 | g.38575463A>T | CA2665112184 | SCN5A | c.3509-12T>A (n.3509-12T>A) c.3512-12T>A (n.3512-12T>A) c.3350-12T>A (n.3350-12T>A) c.3383-12T>A (n.3383-12T>A) | gnomAD v4 |
3 | g.38575464G>A | CA542615679 | SCN5A | c.3509-13C>T (n.3509-13C>T) c.3512-13C>T (n.3512-13C>T) c.3350-13C>T (n.3350-13C>T) c.3383-13C>T (n.3383-13C>T) | ClinVar dbSNP gnomAD v2 |
3 | g.38575464G= | CA1358572612 | SCN5A | c.3509-13C= (n.3509-13C=) c.3512-13C= (n.3512-13C=) c.3350-13C= (n.3350-13C=) c.3383-13C= (n.3383-13C=) | |
3 | g.38575464G>T | CA2665112186 | SCN5A | c.3509-13C>A (n.3509-13C>A) c.3512-13C>A (n.3512-13C>A) c.3350-13C>A (n.3350-13C>A) c.3383-13C>A (n.3383-13C>A) | gnomAD v4 |
3 | g.38575465T>C | CA2665112187 | SCN5A | c.3509-14A>G (n.3509-14A>G) c.3512-14A>G (n.3512-14A>G) c.3350-14A>G (n.3350-14A>G) c.3383-14A>G (n.3383-14A>G) | gnomAD v4 |
3 | g.38575465T>G | CA061947 | SCN5A | c.3509-14A>C (n.3509-14A>C) c.3512-14A>C (n.3512-14A>C) c.3350-14A>C (n.3350-14A>C) c.3383-14A>C (n.3383-14A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575465T= | CA1358572613 | SCN5A | c.3509-14A= (n.3509-14A=) c.3512-14A= (n.3512-14A=) c.3350-14A= (n.3350-14A=) c.3383-14A= (n.3383-14A=) | |
3 | g.38575466G>A | CA542615680 | SCN5A | c.3509-15C>T (n.3509-15C>T) c.3512-15C>T (n.3512-15C>T) c.3350-15C>T (n.3350-15C>T) c.3383-15C>T (n.3383-15C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575466G= | CA1358572614 | SCN5A | c.3509-15C= (n.3509-15C=) c.3512-15C= (n.3512-15C=) c.3350-15C= (n.3350-15C=) c.3383-15C= (n.3383-15C=) | |
3 | g.38575466G>T | CA2665112188 | SCN5A | c.3509-15C>A (n.3509-15C>A) c.3512-15C>A (n.3512-15C>A) c.3350-15C>A (n.3350-15C>A) c.3383-15C>A (n.3383-15C>A) | gnomAD v4 |
3 | g.38575467A>G | CA2665112189 | SCN5A | c.3509-16T>C (n.3509-16T>C) c.3512-16T>C (n.3512-16T>C) c.3350-16T>C (n.3350-16T>C) c.3383-16T>C (n.3383-16T>C) | gnomAD v4 |
3 | g.38575468G>A | CA2665112190 | SCN5A | c.3509-17C>T (n.3509-17C>T) c.3512-17C>T (n.3512-17C>T) c.3350-17C>T (n.3350-17C>T) c.3383-17C>T (n.3383-17C>T) | gnomAD v4 |
3 | g.38575468G>T | CA2665112191 | SCN5A | c.3509-17C>A (n.3509-17C>A) c.3512-17C>A (n.3512-17C>A) c.3350-17C>A (n.3350-17C>A) c.3383-17C>A (n.3383-17C>A) | gnomAD v4 |
3 | g.38575469G>A | CA542615681 | SCN5A | c.3509-18C>T (n.3509-18C>T) c.3512-18C>T (n.3512-18C>T) c.3350-18C>T (n.3350-18C>T) c.3383-18C>T (n.3383-18C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575469G= | CA1358572615 | SCN5A | c.3509-18C= (n.3509-18C=) c.3512-18C= (n.3512-18C=) c.3350-18C= (n.3350-18C=) c.3383-18C= (n.3383-18C=) | |
3 | g.38575469G>T | CA2573136261 | SCN5A | c.3509-18C>A (n.3509-18C>A) c.3512-18C>A (n.3512-18C>A) c.3350-18C>A (n.3350-18C>A) c.3383-18C>A (n.3383-18C>A) | ClinVar dbSNP |
3 | g.38575470G>A | CA2665112192 | SCN5A | c.3509-19C>T (n.3509-19C>T) c.3512-19C>T (n.3512-19C>T) c.3350-19C>T (n.3350-19C>T) c.3383-19C>T (n.3383-19C>T) | gnomAD v4 |
3 | g.38575470G>T | CA2665112193 | SCN5A | c.3509-19C>A (n.3509-19C>A) c.3512-19C>A (n.3512-19C>A) c.3350-19C>A (n.3350-19C>A) c.3383-19C>A (n.3383-19C>A) | gnomAD v4 |
3 | g.38575471T>C | CA2665112194 | SCN5A | c.3509-20A>G (n.3509-20A>G) c.3512-20A>G (n.3512-20A>G) c.3350-20A>G (n.3350-20A>G) c.3383-20A>G (n.3383-20A>G) | gnomAD v4 |
3 | g.38575472C>A | CA2665112195 | SCN5A | c.3509-21G>T (n.3509-21G>T) c.3512-21G>T (n.3512-21G>T) c.3350-21G>T (n.3350-21G>T) c.3383-21G>T (n.3383-21G>T) | gnomAD v4 |
3 | g.38575472C>T | CA2665112196 | SCN5A | c.3509-21G>A (n.3509-21G>A) c.3512-21G>A (n.3512-21G>A) c.3350-21G>A (n.3350-21G>A) c.3383-21G>A (n.3383-21G>A) | gnomAD v4 |
3 | g.38575473A= | CA1358572616 | SCN5A | c.3509-22T= (n.3509-22T=) c.3512-22T= (n.3512-22T=) c.3350-22T= (n.3350-22T=) c.3383-22T= (n.3383-22T=) | |
3 | g.38575473A>G | CA906907417 | SCN5A | c.3509-22T>C (n.3509-22T>C) c.3512-22T>C (n.3512-22T>C) c.3350-22T>C (n.3350-22T>C) c.3383-22T>C (n.3383-22T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575473A>T | CA2665112197 | SCN5A | c.3509-22T>A (n.3509-22T>A) c.3512-22T>A (n.3512-22T>A) c.3350-22T>A (n.3350-22T>A) c.3383-22T>A (n.3383-22T>A) | gnomAD v4 |
3 | g.38575474G>T | CA2665112198 | SCN5A | c.3509-23C>A (n.3509-23C>A) c.3512-23C>A (n.3512-23C>A) c.3350-23C>A (n.3350-23C>A) c.3383-23C>A (n.3383-23C>A) | gnomAD v4 |
3 | g.38575475G>A | CA2665112199 | SCN5A | c.3509-24C>T (n.3509-24C>T) c.3512-24C>T (n.3512-24C>T) c.3350-24C>T (n.3350-24C>T) c.3383-24C>T (n.3383-24C>T) | gnomAD v4 |
3 | g.38575475G= | CA1358572617 | SCN5A | c.3509-24C= (n.3509-24C=) c.3512-24C= (n.3512-24C=) c.3350-24C= (n.3350-24C=) c.3383-24C= (n.3383-24C=) | |
3 | g.38575475G>T | CA72923271 | SCN5A | c.3509-24C>A (n.3509-24C>A) c.3512-24C>A (n.3512-24C>A) c.3350-24C>A (n.3350-24C>A) c.3383-24C>A (n.3383-24C>A) | dbSNP gnomAD v4 |