UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38606657G>A | CA542273684 | SCN5A | c.1140+12C>T (n.1140+12C>T) c.1011+12C>T (n.1011+12C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606657G= | CA1358586249 | SCN5A | c.1140+12C= (n.1140+12C=) c.1011+12C= (n.1011+12C=) | |
| 3 | g.38606657G>T | CA2665115537 | SCN5A | c.1140+12C>A (n.1140+12C>A) c.1011+12C>A (n.1011+12C>A) | gnomAD v4 |
| 3 | g.38606657_38606658del | CA2665115538 | SCN5A | c.1140+11_1140+12del (n.1140+11_1140+12del) c.1011+11_1011+12del (n.1011+11_1011+12del) | gnomAD v4 |
| 3 | g.38606657_38606659delinsGCA | CA1358586248 | SCN5A | c.1140+10_1140+12delinsTGC (n.1140+10_1140+12delinsTGC) c.1011+10_1011+12delinsTGC (n.1011+10_1011+12delinsTGC) | |
| 3 | g.38606658C>A | CA2665115539 | SCN5A | c.1140+11G>T (n.1140+11G>T) c.1011+11G>T (n.1011+11G>T) | gnomAD v4 |
| 3 | g.38606667_38606668del | CA057165 | SCN5A | c.1140+10_1140+11del (n.1140+10_1140+11del) c.1011+10_1011+11del (n.1011+10_1011+11del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606659A= | CA1358586250 | SCN5A | c.1140+10T= (n.1140+10T=) c.1011+10T= (n.1011+10T=) | |
| 3 | g.38606659A>G | CA658657287 | SCN5A | c.1140+10T>C (n.1140+10T>C) c.1011+10T>C (n.1011+10T>C) | ClinVar dbSNP |
| 3 | g.38606660C>A | CA057217 | SCN5A | c.1140+9G>T (n.1140+9G>T) c.1011+9G>T (n.1011+9G>T) | dbSNP ExAC gnomAD v2 |
| 3 | g.38606660C= | CA1358586251 | SCN5A | c.1140+9G= (n.1140+9G=) c.1011+9G= (n.1011+9G=) | |
| 3 | g.38606661del | CA2665115540 | SCN5A | c.1140+8del (n.1140+8del) c.1011+8del (n.1011+8del) | gnomAD v4 |
| 3 | g.38606661A= | CA1358586252 | SCN5A | c.1140+8T= (n.1140+8T=) c.1011+8T= (n.1011+8T=) | |
| 3 | g.38606661A>G | CA057213 | SCN5A | c.1140+8T>C (n.1140+8T>C) c.1011+8T>C (n.1011+8T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38606662C>A | CA2499216754 | SCN5A | c.1140+7G>T (n.1140+7G>T) c.1011+7G>T (n.1011+7G>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606662C>T | CA2499216755 | SCN5A | c.1140+7G>A (n.1140+7G>A) c.1011+7G>A (n.1011+7G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606664C= | CA1358586253 | SCN5A | c.1140+5G= (n.1140+5G=) c.1011+5G= (n.1011+5G=) | |
| 3 | g.38606664C>T | CA916080332 | SCN5A | c.1140+5G>A (n.1140+5G>A) c.1011+5G>A (n.1011+5G>A) | ClinVar dbSNP |
| 3 | g.38606666C>T | CA2665115541 | SCN5A | c.1140+3G>A (n.1140+3G>A) c.1011+3G>A (n.1011+3G>A) | gnomAD v4 |
| 3 | g.38606667A>C | CA352149208 | SCN5A | c.1140+2T>G (n.1140+2T>G) c.1011+2T>G (n.1011+2T>G) | ClinVar dbSNP |
| 3 | g.38606667A>G | CA352149210 | SCN5A | c.1140+2T>C (n.1140+2T>C) c.1011+2T>C (n.1011+2T>C) | |
| 3 | g.38606667A>T | CA352149212 | SCN5A | c.1140+2T>A (n.1140+2T>A) c.1011+2T>A (n.1011+2T>A) | |
| 3 | g.38606668C>A | CA352149214 | SCN5A | c.1140+1G>T (n.1140+1G>T) c.1011+1G>T (n.1011+1G>T) | |
| 3 | g.38606668C= | CA1358586254 | SCN5A | c.1140+1G= (n.1140+1G=) c.1011+1G= (n.1011+1G=) | |
| 3 | g.38606668C>G | CA352149216 | SCN5A | c.1140+1G>C (n.1140+1G>C) c.1011+1G>C (n.1011+1G>C) | |
| 3 | g.38606668C>T | CA014404 | SCN5A | c.1140+1G>A (n.1140+1G>A) c.1011+1G>A (n.1011+1G>A) | ClinVar dbSNP |
| 3 | g.38606668_38606669delinsTT | CA645519438 | SCN5A | c.1140_1140+1delinsAA c.1011_1011+1delinsAA | COSMIC COSMIC COSMIC |
| 3 | g.38606669C>A | CA352149222 | SCN5A | c.1140G>T (p.Gln380His) c.1011G>T (p.Gln337His) | |
| 3 | g.38606669C= | CA1358586255 | SCN5A | c.1140G= (p.Gln380=) c.1011G= (p.Gln337=) | |
| 3 | g.38606669C>G | CA352149220 | SCN5A | c.1140G>C (p.Gln380His) c.1011G>C (p.Gln337His) | |
| 3 | g.38606669C>T | CA72940559 | SCN5A | c.1140G>A (p.Gln380=) c.1011G>A (p.Gln337=) | dbSNP gnomAD v4 |
| 3 | g.38606670T>A | CA352149228 | SCN5A | c.1139A>T (p.Gln380Leu) c.1010A>T (p.Gln337Leu) | |
| 3 | g.38606670T>C | CA352149229 | SCN5A | c.1139A>G (p.Gln380Arg) c.1010A>G (p.Gln337Arg) | |
| 3 | g.38606670T>G | CA352149232 | SCN5A | c.1139A>C (p.Gln380Pro) c.1010A>C (p.Gln337Pro) | |
| 3 | g.38606671G>A | CA352149233 | SCN5A | c.1138C>T (p.Gln380Ter) c.1009C>T (p.Gln337Ter) | |
| 3 | g.38606671G>C | CA352149234 | SCN5A | c.1138C>G (p.Gln380Glu) c.1009C>G (p.Gln337Glu) | |
| 3 | g.38606671G>T | CA352149236 | SCN5A | c.1138C>A (p.Gln380Lys) c.1009C>A (p.Gln337Lys) | ClinVar |
| 3 | g.38606672C>A | CA352149239 | SCN5A | c.1137G>T (p.Gln379His) c.1008G>T (p.Gln336His) | |
| 3 | g.38606672C>G | CA352149240 | SCN5A | c.1137G>C (p.Gln379His) c.1008G>C (p.Gln336His) | |
| 3 | g.38606672C>T | CA433137773 | SCN5A | c.1137G>A (p.Gln379=) c.1008G>A (p.Gln336=) | gnomAD v4 |
| 3 | g.38606673T>A | CA352149243 | SCN5A | c.1136A>T (p.Gln379Leu) c.1007A>T (p.Gln336Leu) | |
| 3 | g.38606673T>C | CA352149244 | SCN5A | c.1136A>G (p.Gln379Arg) c.1007A>G (p.Gln336Arg) | ClinVar |
| 3 | g.38606673T>G | CA352149246 | SCN5A | c.1136A>C (p.Gln379Pro) c.1007A>C (p.Gln336Pro) | |
| 3 | g.38606674G>A | CA352149248 | SCN5A | c.1135C>T (p.Gln379Ter) c.1006C>T (p.Gln336Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38606674G>C | CA352149250 | SCN5A | c.1135C>G (p.Gln379Glu) c.1006C>G (p.Gln336Glu) | |
| 3 | g.38606674G= | CA1358586256 | SCN5A | c.1135C= (p.Gln379=) c.1006C= (p.Gln336=) | |
| 3 | g.38606674G>T | CA352149251 | SCN5A | c.1135C>A (p.Gln379Lys) c.1006C>A (p.Gln336Lys) | |
| 3 | g.38606675A= | CA1358586257 | SCN5A | c.1134T= (p.Tyr378=) c.1005T= (p.Tyr335=) | |
| 3 | g.38606675A>C | CA352149256 | SCN5A | c.1134T>G (p.Tyr378Ter) c.1005T>G (p.Tyr335Ter) | |
| 3 | g.38606675A>G | CA057151 | SCN5A | c.1134T>C (p.Tyr378=) c.1005T>C (p.Tyr335=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606675A>T | CA014398 | SCN5A | c.1134T>A (p.Tyr378Ter) c.1005T>A (p.Tyr335Ter) | ClinVar dbSNP |
| 3 | g.38606676T>A | CA352149259 | SCN5A | c.1133A>T (p.Tyr378Phe) c.1004A>T (p.Tyr335Phe) | |
| 3 | g.38606676T>C | CA352149261 | SCN5A | c.1133A>G (p.Tyr378Cys) c.1004A>G (p.Tyr335Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38606676T>G | CA352149263 | SCN5A | c.1133A>C (p.Tyr378Ser) c.1004A>C (p.Tyr335Ser) | |
| 3 | g.38606676T= | CA1358586258 | SCN5A | c.1133A= (p.Tyr378=) c.1004A= (p.Tyr335=) | |
| 3 | g.38606677A>C | CA352149265 | SCN5A | c.1132T>G (p.Tyr378Asp) c.1003T>G (p.Tyr335Asp) | |
| 3 | g.38606677A>G | CA352149267 | SCN5A | c.1132T>C (p.Tyr378His) c.1003T>C (p.Tyr335His) | |
| 3 | g.38606677A>T | CA352149269 | SCN5A | c.1132T>A (p.Tyr378Asn) c.1003T>A (p.Tyr335Asn) | |
| 3 | g.38606678G>A | CA433137774 | SCN5A | c.1131C>T (p.Leu377=) c.1002C>T (p.Leu334=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38606678G>C | CA433137776 | SCN5A | c.1131C>G (p.Leu377=) c.1002C>G (p.Leu334=) | ClinVar |
| 3 | g.38606678G= | CA1358586259 | SCN5A | c.1131C= (p.Leu377=) c.1002C= (p.Leu334=) | |
| 3 | g.38606678G>T | CA433137775 | SCN5A | c.1131C>A (p.Leu377=) c.1002C>A (p.Leu334=) | |
| 3 | g.38606679A>C | CA352149274 | SCN5A | c.1130T>G (p.Leu377Arg) c.1001T>G (p.Leu334Arg) | |
| 3 | g.38606679A>G | CA352149273 | SCN5A | c.1130T>C (p.Leu377Pro) c.1001T>C (p.Leu334Pro) | |
| 3 | g.38606679A>T | CA352149271 | SCN5A | c.1130T>A (p.Leu377His) c.1001T>A (p.Leu334His) | |
| 3 | g.38606680G>A | CA352149275 | SCN5A | c.1129C>T (p.Leu377Phe) c.1000C>T (p.Leu334Phe) | |
| 3 | g.38606680G>C | CA352149276 | SCN5A | c.1129C>G (p.Leu377Val) c.1000C>G (p.Leu334Val) | |
| 3 | g.38606680G>T | CA352149278 | SCN5A | c.1129C>A (p.Leu377Ile) c.1000C>A (p.Leu334Ile) | |
| 3 | g.38606681G>A | CA433137777 | SCN5A | c.1128C>T (p.Arg376=) c.999C>T (p.Arg333=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606681G>C | CA433137778 | SCN5A | c.1128C>G (p.Arg376=) c.999C>G (p.Arg333=) | |
| 3 | g.38606681G= | CA1358586260 | SCN5A | c.1128C= (p.Arg376=) c.999C= (p.Arg333=) | |
| 3 | g.38606681G>T | CA433137779 | SCN5A | c.1128C>A (p.Arg376=) c.999C>A (p.Arg333=) | ClinVar |
| 3 | g.38606682C>A | CA352149281 | SCN5A | c.1127G>T (p.Arg376Leu) c.998G>T (p.Arg333Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606682C= | CA1358586261 | SCN5A | c.1127G= (p.Arg376=) c.998G= (p.Arg333=) | |
| 3 | g.38606682C>G | CA352149283 | SCN5A | c.1127G>C (p.Arg376Pro) c.998G>C (p.Arg333Pro) | |
| 3 | g.38606682C>T | CA014389 | SCN5A | c.1127G>A (p.Arg376His) c.998G>A (p.Arg333His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606683G>A | CA014377 | SCN5A | c.1126C>T (p.Arg376Cys) c.997C>T (p.Arg333Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606683G>C | CA352149289 | SCN5A | c.1126C>G (p.Arg376Gly) c.997C>G (p.Arg333Gly) | |
| 3 | g.38606683G= | CA1358586262 | SCN5A | c.1126C= (p.Arg376=) c.997C= (p.Arg333=) | |
| 3 | g.38606683G>T | CA352149288 | SCN5A | c.1126C>A (p.Arg376Ser) c.997C>A (p.Arg333Ser) | |
| 3 | g.38606684C>A | CA352149291 | SCN5A | c.1125G>T (p.Glu375Asp) c.996G>T (p.Glu332Asp) | |
| 3 | g.38606684C= | CA1358586263 | SCN5A | c.1125G= (p.Glu375=) c.996G= (p.Glu332=) | |
| 3 | g.38606684C>G | CA352149293 | SCN5A | c.1125G>C (p.Glu375Asp) c.996G>C (p.Glu332Asp) | |
| 3 | g.38606684C>T | CA433137780 | SCN5A | c.1125G>A (p.Glu375=) c.996G>A (p.Glu332=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606685T>A | CA352149295 | SCN5A | c.1124A>T (p.Glu375Val) c.995A>T (p.Glu332Val) | |
| 3 | g.38606685T>C | CA352149297 | SCN5A | c.1124A>G (p.Glu375Gly) c.995A>G (p.Glu332Gly) | |
| 3 | g.38606685T>G | CA352149299 | SCN5A | c.1124A>C (p.Glu375Ala) c.995A>C (p.Glu332Ala) | |
| 3 | g.38606686C>A | CA352149302 | SCN5A | c.1123G>T (p.Glu375Ter) c.994G>T (p.Glu332Ter) | dbSNP |
| 3 | g.38606686C= | CA1358586264 | SCN5A | c.1123G= (p.Glu375=) c.994G= (p.Glu332=) | |
| 3 | g.38606686C>G | CA352149303 | SCN5A | c.1123G>C (p.Glu375Gln) c.994G>C (p.Glu332Gln) | |
| 3 | g.38606686C>T | CA352149305 | SCN5A | c.1123G>A (p.Glu375Lys) c.994G>A (p.Glu332Lys) | |
| 3 | g.38606687C>A | CA352149307 | SCN5A | c.1122G>T (p.Trp374Cys) c.993G>T (p.Trp331Cys) | |
| 3 | g.38606687C= | CA1358586265 | SCN5A | c.1122G= (p.Trp374=) c.993G= (p.Trp331=) | |
| 3 | g.38606687C>G | CA352149309 | SCN5A | c.1122G>C (p.Trp374Cys) c.993G>C (p.Trp331Cys) | |
| 3 | g.38606687C>T | CA014369 | SCN5A | c.1122G>A (p.Trp374Ter) c.993G>A (p.Trp331Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606688C>A | CA352149315 | SCN5A | c.1121G>T (p.Trp374Leu) c.992G>T (p.Trp331Leu) | |
| 3 | g.38606688C= | CA1358586266 | SCN5A | c.1121G= (p.Trp374=) c.992G= (p.Trp331=) | |
| 3 | g.38606688C>G | CA352149311 | SCN5A | c.1121G>C (p.Trp374Ser) c.992G>C (p.Trp331Ser) | |
| 3 | g.38606688C>T | CA352149313 | SCN5A | c.1121G>A (p.Trp374Ter) c.992G>A (p.Trp331Ter) | ClinVar dbSNP |
| 3 | g.38606689A= | CA1358586267 | SCN5A | c.1120T= (p.Trp374=) c.991T= (p.Trp331=) | |
| 3 | g.38606689A>C | CA014359 | SCN5A | c.1120T>G (p.Trp374Gly) c.991T>G (p.Trp331Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606689A>G | CA352149318 | SCN5A | c.1120T>C (p.Trp374Arg) c.991T>C (p.Trp331Arg) | |
| 3 | g.38606689A>T | CA352149317 | SCN5A | c.1120T>A (p.Trp374Arg) c.991T>A (p.Trp331Arg) | |
| 3 | g.38606690G>A | CA433137781 | SCN5A | c.1119C>T (p.Cys373=) c.990C>T (p.Cys330=) | |
| 3 | g.38606690G>C | CA352149321 | SCN5A | c.1119C>G (p.Cys373Trp) c.990C>G (p.Cys330Trp) | |
| 3 | g.38606690G= | CA1358586268 | SCN5A | c.1119C= (p.Cys373=) c.990C= (p.Cys330=) | |
| 3 | g.38606690G>T | CA352149323 | SCN5A | c.1119C>A (p.Cys373Ter) c.990C>A (p.Cys330Ter) | dbSNP |
| 3 | g.38606691C>A | CA352149324 | SCN5A | c.1118G>T (p.Cys373Phe) c.989G>T (p.Cys330Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606691C= | CA1358586269 | SCN5A | c.1118G= (p.Cys373=) c.989G= (p.Cys330=) | |
| 3 | g.38606691C>G | CA352149326 | SCN5A | c.1118G>C (p.Cys373Ser) c.989G>C (p.Cys330Ser) | |
| 3 | g.38606691C>T | CA352149328 | SCN5A | c.1118G>A (p.Cys373Tyr) c.989G>A (p.Cys330Tyr) | dbSNP gnomAD v4 |
| 3 | g.38606692A= | CA1358586270 | SCN5A | c.1117T= (p.Cys373=) c.988T= (p.Cys330=) | |
| 3 | g.38606692A>C | CA352149330 | SCN5A | c.1117T>G (p.Cys373Gly) c.988T>G (p.Cys330Gly) | |
| 3 | g.38606692A>G | CA352149332 | SCN5A | c.1117T>C (p.Cys373Arg) c.988T>C (p.Cys330Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38606692A>T | CA352149334 | SCN5A | c.1117T>A (p.Cys373Ser) c.988T>A (p.Cys330Ser) | |
| 3 | g.38606693G>A | CA433137782 | SCN5A | c.1116C>T (p.Asp372=) c.987C>T (p.Asp329=) | |
| 3 | g.38606693G>C | CA352149336 | SCN5A | c.1116C>G (p.Asp372Glu) c.987C>G (p.Asp329Glu) | |
| 3 | g.38606693G>T | CA352149338 | SCN5A | c.1116C>A (p.Asp372Glu) c.987C>A (p.Asp329Glu) | |
| 3 | g.38606694T>A | CA352149340 | SCN5A | c.1115A>T (p.Asp372Val) c.986A>T (p.Asp329Val) | |
| 3 | g.38606694T>C | CA352149342 | SCN5A | c.1115A>G (p.Asp372Gly) c.986A>G (p.Asp329Gly) | |
| 3 | g.38606694T>G | CA352149344 | SCN5A | c.1115A>C (p.Asp372Ala) c.986A>C (p.Asp329Ala) | |
| 3 | g.38606695C>A | CA352149345 | SCN5A | c.1114G>T (p.Asp372Tyr) c.985G>T (p.Asp329Tyr) | |
| 3 | g.38606695C>G | CA352149349 | SCN5A | c.1114G>C (p.Asp372His) c.985G>C (p.Asp329His) | |
| 3 | g.38606695C>T | CA352149347 | SCN5A | c.1114G>A (p.Asp372Asn) c.985G>A (p.Asp329Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606696C>A | CA352149350 | SCN5A | c.1113G>T (p.Gln371His) c.984G>T (p.Gln328His) | |
| 3 | g.38606696C>G | CA352149352 | SCN5A | c.1113G>C (p.Gln371His) c.984G>C (p.Gln328His) | |
| 3 | g.38606696C>T | CA433137783 | SCN5A | c.1113G>A (p.Gln371=) c.984G>A (p.Gln328=) | |
| 3 | g.38606697T>A | CA352149354 | SCN5A | c.1112A>T (p.Gln371Leu) c.983A>T (p.Gln328Leu) | |
| 3 | g.38606697T>C | CA352149356 | SCN5A | c.1112A>G (p.Gln371Arg) c.983A>G (p.Gln328Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606697T>G | CA352149358 | SCN5A | c.1112A>C (p.Gln371Pro) c.983A>C (p.Gln328Pro) | |
| 3 | g.38606697T= | CA1358586271 | SCN5A | c.1112A= (p.Gln371=) c.983A= (p.Gln328=) | |
| 3 | g.38606698G>A | CA352149360 | SCN5A | c.1111C>T (p.Gln371Ter) c.982C>T (p.Gln328Ter) | |
| 3 | g.38606698G>C | CA352149362 | SCN5A | c.1111C>G (p.Gln371Glu) c.982C>G (p.Gln328Glu) | |
| 3 | g.38606698G>T | CA352149363 | SCN5A | c.1111C>A (p.Gln371Lys) c.982C>A (p.Gln328Lys) | |
| 3 | g.38606699C>A | CA057137 | SCN5A | c.1110G>T (p.Thr370=) c.981G>T (p.Thr327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606699C= | CA1358586272 | SCN5A | c.1110G= (p.Thr370=) c.981G= (p.Thr327=) | |
| 3 | g.38606699C>G | CA433137784 | SCN5A | c.1110G>C (p.Thr370=) c.981G>C (p.Thr327=) | |
| 3 | g.38606699C>T | CA057128 | SCN5A | c.1110G>A (p.Thr370=) c.981G>A (p.Thr327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606700G>A | CA014345 | SCN5A | c.1109C>T (p.Thr370Met) c.980C>T (p.Thr327Met) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606700G>C | CA352149370 | SCN5A | c.1109C>G (p.Thr370Arg) c.980C>G (p.Thr327Arg) | |
| 3 | g.38606700G= | CA1358586273 | SCN5A | c.1109C= (p.Thr370=) c.980C= (p.Thr327=) | |
| 3 | g.38606700G>T | CA352149368 | SCN5A | c.1109C>A (p.Thr370Lys) c.980C>A (p.Thr327Lys) | |
| 3 | g.38606701T>A | CA352149376 | SCN5A | c.1108A>T (p.Thr370Ser) c.979A>T (p.Thr327Ser) | |
| 3 | g.38606701T>C | CA352149374 | SCN5A | c.1108A>G (p.Thr370Ala) c.979A>G (p.Thr327Ala) | |
| 3 | g.38606701T>G | CA352149375 | SCN5A | c.1108A>C (p.Thr370Pro) c.979A>C (p.Thr327Pro) | |
| 3 | g.38606702C>A | CA352149377 | SCN5A | c.1107G>T (p.Met369Ile) c.978G>T (p.Met326Ile) | |
| 3 | g.38606702C>G | CA352149378 | SCN5A | c.1107G>C (p.Met369Ile) c.978G>C (p.Met326Ile) | |
| 3 | g.38606702C>T | CA352149379 | SCN5A | c.1107G>A (p.Met369Ile) c.978G>A (p.Met326Ile) | |
| 3 | g.38606703A= | CA1358586274 | SCN5A | c.1106T= (p.Met369=) c.977T= (p.Met326=) | |
| 3 | g.38606703A>C | CA352149380 | SCN5A | c.1106T>G (p.Met369Arg) c.977T>G (p.Met326Arg) | |
| 3 | g.38606703A>G | CA352149381 | SCN5A | c.1106T>C (p.Met369Thr) c.977T>C (p.Met326Thr) | ClinVar |
| 3 | g.38606703A>T | CA014336 | SCN5A | c.1106T>A (p.Met369Lys) c.977T>A (p.Met326Lys) | ClinVar dbSNP |
| 3 | g.38606704T>A | CA352149383 | SCN5A | c.1105A>T (p.Met369Leu) c.976A>T (p.Met326Leu) | |
| 3 | g.38606704T>C | CA352149384 | SCN5A | c.1105A>G (p.Met369Val) c.976A>G (p.Met326Val) | |
| 3 | g.38606704T>G | CA352149385 | SCN5A | c.1105A>C (p.Met369Leu) c.976A>C (p.Met326Leu) | |
| 3 | g.38606705C>A | CA433137785 | SCN5A | c.1104G>T (p.Leu368=) c.975G>T (p.Leu325=) | ClinVar |
| 3 | g.38606705C>G | CA433137786 | SCN5A | c.1104G>C (p.Leu368=) c.975G>C (p.Leu325=) | |
| 3 | g.38606705C>T | CA433137787 | SCN5A | c.1104G>A (p.Leu368=) c.975G>A (p.Leu325=) | ClinVar gnomAD v4 |
| 3 | g.38606705_38606706delinsCA | CA1358586275 | SCN5A | c.1103_1104delinsTG (p.Leu368=) c.974_975delinsTG (p.Leu325=) | |
| 3 | g.38606706del | CA916080333 | SCN5A | c.1103del (p.Leu368ArgfsTer2) c.974del (p.Leu325ArgfsTer2) | ClinVar dbSNP |
| 3 | g.38606706A>C | CA352149386 | SCN5A | c.1103T>G (p.Leu368Arg) c.974T>G (p.Leu325Arg) | |
| 3 | g.38606706A>G | CA352149387 | SCN5A | c.1103T>C (p.Leu368Pro) c.974T>C (p.Leu325Pro) | |
| 3 | g.38606706A>T | CA352149388 | SCN5A | c.1103T>A (p.Leu368Gln) c.974T>A (p.Leu325Gln) | |
| 3 | g.38606707G>A | CA433137788 | SCN5A | c.1102C>T (p.Leu368=) c.973C>T (p.Leu325=) | |
| 3 | g.38606707G>C | CA352149389 | SCN5A | c.1102C>G (p.Leu368Val) c.973C>G (p.Leu325Val) | |
| 3 | g.38606707G>T | CA352149390 | SCN5A | c.1102C>A (p.Leu368Met) c.973C>A (p.Leu325Met) | |
| 3 | g.38606708G>A | CA433137789 | SCN5A | c.1101C>T (p.Arg367=) c.972C>T (p.Arg324=) | |
| 3 | g.38606708G>C | CA433137790 | SCN5A | c.1101C>G (p.Arg367=) c.972C>G (p.Arg324=) | |
| 3 | g.38606708G>T | CA433137791 | SCN5A | c.1101C>A (p.Arg367=) c.972C>A (p.Arg324=) | |
| 3 | g.38606709C>A | CA014324 | SCN5A | c.1100G>T (p.Arg367Leu) c.971G>T (p.Arg324Leu) | ClinVar dbSNP |
| 3 | g.38606709C= | CA1358586276 | SCN5A | c.1100G= (p.Arg367=) c.971G= (p.Arg324=) | |
| 3 | g.38606709C>G | CA352149400 | SCN5A | c.1100G>C (p.Arg367Pro) c.971G>C (p.Arg324Pro) | |
| 3 | g.38606709C>T | CA014314 | SCN5A | c.1100G>A (p.Arg367His) c.971G>A (p.Arg324His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606710G>A | CA014305 | SCN5A | c.1099C>T (p.Arg367Cys) c.970C>T (p.Arg324Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606710G>C | CA352149404 | SCN5A | c.1099C>G (p.Arg367Gly) c.970C>G (p.Arg324Gly) | |
| 3 | g.38606710G= | CA1358586277 | SCN5A | c.1099C= (p.Arg367=) c.970C= (p.Arg324=) | |
| 3 | g.38606710G>T | CA352149405 | SCN5A | c.1099C>A (p.Arg367Ser) c.970C>A (p.Arg324Ser) | |
| 3 | g.38606710_38606711delinsAA | CA645519439 | SCN5A | c.1098_1099delinsTT (p.Arg367Cys) c.969_970delinsTT (p.Arg324Cys) | COSMIC COSMIC COSMIC |
| 3 | g.38606711G>A | CA057112 | SCN5A | c.1098C>T (p.Phe366=) c.969C>T (p.Phe323=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606711G>C | CA352149408 | SCN5A | c.1098C>G (p.Phe366Leu) c.969C>G (p.Phe323Leu) | |
| 3 | g.38606711G= | CA1358586278 | SCN5A | c.1098C= (p.Phe366=) c.969C= (p.Phe323=) | |
| 3 | g.38606711G>T | CA352149410 | SCN5A | c.1098C>A (p.Phe366Leu) c.969C>A (p.Phe323Leu) | COSMIC COSMIC COSMIC |
| 3 | g.38606712A>C | CA352149412 | SCN5A | c.1097T>G (p.Phe366Cys) c.968T>G (p.Phe323Cys) | |
| 3 | g.38606712A>G | CA352149414 | SCN5A | c.1097T>C (p.Phe366Ser) c.968T>C (p.Phe323Ser) | |
| 3 | g.38606712A>T | CA352149416 | SCN5A | c.1097T>A (p.Phe366Tyr) c.968T>A (p.Phe323Tyr) | |
| 3 | g.38606713A>C | CA352149420 | SCN5A | c.1096T>G (p.Phe366Val) c.967T>G (p.Phe323Val) | |
| 3 | g.38606713A>G | CA352149424 | SCN5A | c.1096T>C (p.Phe366Leu) c.967T>C (p.Phe323Leu) | |
| 3 | g.38606713A>T | CA352149418 | SCN5A | c.1096T>A (p.Phe366Ile) c.967T>A (p.Phe323Ile) | |
| 3 | g.38606714G>A | CA433137792 | SCN5A | c.1095C>T (p.Leu365=) c.966C>T (p.Leu322=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606714G>C | CA057106 | SCN5A | c.1095C>G (p.Leu365=) c.966C>G (p.Leu322=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606714G= | CA1358586279 | SCN5A | c.1095C= (p.Leu365=) c.966C= (p.Leu322=) | |
| 3 | g.38606714G>T | CA057097 | SCN5A | c.1095C>A (p.Leu365=) c.966C>A (p.Leu322=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606715A>C | CA352149429 | SCN5A | c.1094T>G (p.Leu365Arg) c.965T>G (p.Leu322Arg) | |
| 3 | g.38606715A>G | CA352149431 | SCN5A | c.1094T>C (p.Leu365Pro) c.965T>C (p.Leu322Pro) | |
| 3 | g.38606715A>T | CA352149430 | SCN5A | c.1094T>A (p.Leu365His) c.965T>A (p.Leu322His) | |
| 3 | g.38606716G>A | CA352149434 | SCN5A | c.1093C>T (p.Leu365Phe) c.964C>T (p.Leu322Phe) | |
| 3 | g.38606716G>C | CA352149435 | SCN5A | c.1093C>G (p.Leu365Val) c.964C>G (p.Leu322Val) | gnomAD v4 |
| 3 | g.38606716G>T | CA352149437 | SCN5A | c.1093C>A (p.Leu365Ile) c.964C>A (p.Leu322Ile) | |
| 3 | g.38606717T>A | CA433137793 | SCN5A | c.1092A>T (p.Ala364=) c.963A>T (p.Ala321=) | |
| 3 | g.38606717T>C | CA433137794 | SCN5A | c.1092A>G (p.Ala364=) c.963A>G (p.Ala321=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38606717T>G | CA433137795 | SCN5A | c.1092A>C (p.Ala364=) c.963A>C (p.Ala321=) | |
| 3 | g.38606717T= | CA1358586280 | SCN5A | c.1092A= (p.Ala364=) c.963A= (p.Ala321=) | |
| 3 | g.38606718G>A | CA352149440 | SCN5A | c.1091C>T (p.Ala364Val) c.962C>T (p.Ala321Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606718G>C | CA352149441 | SCN5A | c.1091C>G (p.Ala364Gly) c.962C>G (p.Ala321Gly) | |
| 3 | g.38606718G>T | CA352149442 | SCN5A | c.1091C>A (p.Ala364Glu) c.962C>A (p.Ala321Glu) | ClinVar |
| 3 | g.38606719C>A | CA352149445 | SCN5A | c.1090G>T (p.Ala364Ser) c.961G>T (p.Ala321Ser) | |
| 3 | g.38606719C>G | CA352149446 | SCN5A | c.1090G>C (p.Ala364Pro) c.961G>C (p.Ala321Pro) | |
| 3 | g.38606719C>T | CA352149447 | SCN5A | c.1090G>A (p.Ala364Thr) c.961G>A (p.Ala321Thr) | |
| 3 | g.38606720A= | CA1358586281 | SCN5A | c.1089T= (p.Leu363=) c.960T= (p.Leu320=) | |
| 3 | g.38606720A>C | CA433137796 | SCN5A | c.1089T>G (p.Leu363=) c.960T>G (p.Leu320=) | ClinVar dbSNP |
| 3 | g.38606720A>G | CA433137797 | SCN5A | c.1089T>C (p.Leu363=) c.960T>C (p.Leu320=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38606720A>T | CA433137798 | SCN5A | c.1089T>A (p.Leu363=) c.960T>A (p.Leu320=) | |
| 3 | g.38606721A>C | CA352149449 | SCN5A | c.1088T>G (p.Leu363Arg) c.959T>G (p.Leu320Arg) | |
| 3 | g.38606721A>G | CA352149451 | SCN5A | c.1088T>C (p.Leu363Pro) c.959T>C (p.Leu320Pro) | |
| 3 | g.38606721A>T | CA352149453 | SCN5A | c.1088T>A (p.Leu363His) c.959T>A (p.Leu320His) | |
| 3 | g.38606722G>A | CA352149458 | SCN5A | c.1087C>T (p.Leu363Phe) c.958C>T (p.Leu320Phe) | dbSNP gnomAD v4 |
| 3 | g.38606722G>C | CA352149455 | SCN5A | c.1087C>G (p.Leu363Val) c.958C>G (p.Leu320Val) | ClinVar dbSNP |
| 3 | g.38606722G= | CA1358586282 | SCN5A | c.1087C= (p.Leu363=) c.958C= (p.Leu320=) | |
| 3 | g.38606722G>T | CA352149457 | SCN5A | c.1087C>A (p.Leu363Ile) c.958C>A (p.Leu320Ile) | |
| 3 | g.38606723A= | CA1358586283 | SCN5A | c.1086T= (p.Phe362=) c.957T= (p.Phe319=) | |
| 3 | g.38606723A>C | CA352149460 | SCN5A | c.1086T>G (p.Phe362Leu) c.957T>G (p.Phe319Leu) | |
| 3 | g.38606723A>G | CA433137799 | SCN5A | c.1086T>C (p.Phe362=) c.957T>C (p.Phe319=) | ClinVar dbSNP |
| 3 | g.38606723A>T | CA352149462 | SCN5A | c.1086T>A (p.Phe362Leu) c.957T>A (p.Phe319Leu) | |
| 3 | g.38606724A>C | CA352149465 | SCN5A | c.1085T>G (p.Phe362Cys) c.956T>G (p.Phe319Cys) | |
| 3 | g.38606724A>G | CA352149467 | SCN5A | c.1085T>C (p.Phe362Ser) c.956T>C (p.Phe319Ser) | gnomAD v4 |
| 3 | g.38606724A>T | CA352149469 | SCN5A | c.1085T>A (p.Phe362Tyr) c.956T>A (p.Phe319Tyr) | |
| 3 | g.38606725A>C | CA352149472 | SCN5A | c.1084T>G (p.Phe362Val) c.955T>G (p.Phe319Val) | |
| 3 | g.38606725A>G | CA352149473 | SCN5A | c.1084T>C (p.Phe362Leu) c.955T>C (p.Phe319Leu) | |
| 3 | g.38606725A>T | CA352149475 | SCN5A | c.1084T>A (p.Phe362Ile) c.955T>A (p.Phe319Ile) | |
| 3 | g.38606726G>A | CA433137800 | SCN5A | c.1083C>T (p.Ala361=) c.954C>T (p.Ala318=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38606726G>C | CA433137801 | SCN5A | c.1083C>G (p.Ala361=) c.954C>G (p.Ala318=) | |
| 3 | g.38606726G= | CA1358586284 | SCN5A | c.1083C= (p.Ala361=) c.954C= (p.Ala318=) | |
| 3 | g.38606726G>T | CA433137802 | SCN5A | c.1083C>A (p.Ala361=) c.954C>A (p.Ala318=) | |
| 3 | g.38606727G>A | CA352149477 | SCN5A | c.1082C>T (p.Ala361Val) c.953C>T (p.Ala318Val) | |
| 3 | g.38606727G>C | CA352149478 | SCN5A | c.1082C>G (p.Ala361Gly) c.953C>G (p.Ala318Gly) | |
| 3 | g.38606727G>T | CA352149479 | SCN5A | c.1082C>A (p.Ala361Asp) c.953C>A (p.Ala318Asp) | |
| 3 | g.38606728C>A | CA352149485 | SCN5A | c.1081G>T (p.Ala361Ser) c.952G>T (p.Ala318Ser) | |
| 3 | g.38606728C= | CA1358586285 | SCN5A | c.1081G= (p.Ala361=) c.952G= (p.Ala318=) | |
| 3 | g.38606728C>G | CA352149483 | SCN5A | c.1081G>C (p.Ala361Pro) c.952G>C (p.Ala318Pro) | |
| 3 | g.38606728C>T | CA352149481 | SCN5A | c.1081G>A (p.Ala361Thr) c.952G>A (p.Ala318Thr) | dbSNP COSMIC |
| 3 | g.38606729C>A | CA352149486 | SCN5A | c.1080G>T (p.Trp360Cys) c.951G>T (p.Trp317Cys) | |
| 3 | g.38606729C= | CA1358586286 | SCN5A | c.1080G= (p.Trp360=) c.951G= (p.Trp317=) | |
| 3 | g.38606729C>G | CA352149488 | SCN5A | c.1080G>C (p.Trp360Cys) c.951G>C (p.Trp317Cys) | |
| 3 | g.38606729C>T | CA014295 | SCN5A | c.1080G>A (p.Trp360Ter) c.951G>A (p.Trp317Ter) | ClinVar dbSNP |
| 3 | g.38606730C>A | CA352149494 | SCN5A | c.1079G>T (p.Trp360Leu) c.950G>T (p.Trp317Leu) | |
| 3 | g.38606730C>G | CA352149496 | SCN5A | c.1079G>C (p.Trp360Ser) c.950G>C (p.Trp317Ser) | |
| 3 | g.38606730C>T | CA352149498 | SCN5A | c.1079G>A (p.Trp360Ter) c.950G>A (p.Trp317Ter) | |
| 3 | g.38606731A>C | CA352149500 | SCN5A | c.1078T>G (p.Trp360Gly) c.949T>G (p.Trp317Gly) | |
| 3 | g.38606731A>G | CA352149501 | SCN5A | c.1078T>C (p.Trp360Arg) c.949T>C (p.Trp317Arg) | |
| 3 | g.38606731A>T | CA352149502 | SCN5A | c.1078T>A (p.Trp360Arg) c.949T>A (p.Trp317Arg) | |
| 3 | g.38606732G>A | CA433137804 | SCN5A | c.1077C>T (p.Ala359=) c.948C>T (p.Ala316=) | |
| 3 | g.38606732G>C | CA433137805 | SCN5A | c.1077C>G (p.Ala359=) c.948C>G (p.Ala316=) | |
| 3 | g.38606732G>T | CA433137803 | SCN5A | c.1077C>A (p.Ala359=) c.948C>A (p.Ala316=) | |
| 3 | g.38606733G>A | CA352149504 | SCN5A | c.1076C>T (p.Ala359Val) c.947C>T (p.Ala316Val) | |
| 3 | g.38606733G>C | CA352149508 | SCN5A | c.1076C>G (p.Ala359Gly) c.947C>G (p.Ala316Gly) | |
| 3 | g.38606733G= | CA1358586287 | SCN5A | c.1076C= (p.Ala359=) c.947C= (p.Ala316=) | |
| 3 | g.38606733G>T | CA352149511 | SCN5A | c.1076C>A (p.Ala359Asp) c.947C>A (p.Ala316Asp) | ClinVar dbSNP |
| 3 | g.38606734C>A | CA352149518 | SCN5A | c.1075G>T (p.Ala359Ser) c.946G>T (p.Ala316Ser) | |
| 3 | g.38606734C= | CA1358586288 | SCN5A | c.1075G= (p.Ala359=) c.946G= (p.Ala316=) | |
| 3 | g.38606734C>G | CA352149515 | SCN5A | c.1075G>C (p.Ala359Pro) c.946G>C (p.Ala316Pro) | |
| 3 | g.38606734C>T | CA352149512 | SCN5A | c.1075G>A (p.Ala359Thr) c.946G>A (p.Ala316Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606735A>C | CA352149527 | SCN5A | c.1074T>G (p.Phe358Leu) c.945T>G (p.Phe315Leu) | |
| 3 | g.38606735A>G | CA433137806 | SCN5A | c.1074T>C (p.Phe358=) c.945T>C (p.Phe315=) | |
| 3 | g.38606735A>T | CA352149528 | SCN5A | c.1074T>A (p.Phe358Leu) c.945T>A (p.Phe315Leu) | |
| 3 | g.38606737_38606741dup | CA2319563 | SCN5A | c.1070_1074dup (p.Ala359ProfsTer12) c.941_945dup (p.Ala316ProfsTer12) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38606736A= | CA1358586289 | SCN5A | c.1073T= (p.Phe358=) c.944T= (p.Phe315=) | |
| 3 | g.38606736A>C | CA352149532 | SCN5A | c.1073T>G (p.Phe358Cys) c.944T>G (p.Phe315Cys) | |
| 3 | g.38606736A>G | CA10581145 | SCN5A | c.1073T>C (p.Phe358Ser) c.944T>C (p.Phe315Ser) | ClinVar dbSNP |
| 3 | g.38606736A>T | CA352149533 | SCN5A | c.1073T>A (p.Phe358Tyr) c.944T>A (p.Phe315Tyr) | |
| 3 | g.38606737A>C | CA352149534 | SCN5A | c.1072T>G (p.Phe358Val) c.943T>G (p.Phe315Val) | |
| 3 | g.38606737A>G | CA352149536 | SCN5A | c.1072T>C (p.Phe358Leu) c.943T>C (p.Phe315Leu) | |
| 3 | g.38606737A>T | CA352149537 | SCN5A | c.1072T>A (p.Phe358Ile) c.943T>A (p.Phe315Ile) | |
| 3 | g.38606738G>A | CA433137807 | SCN5A | c.1071C>T (p.Ser357=) c.942C>T (p.Ser314=) | COSMIC COSMIC COSMIC |
| 3 | g.38606738G>C | CA433137808 | SCN5A | c.1071C>G (p.Ser357=) c.942C>G (p.Ser314=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606738G= | CA1358586290 | SCN5A | c.1071C= (p.Ser357=) c.942C= (p.Ser314=) | |
| 3 | g.38606738G>T | CA433137809 | SCN5A | c.1071C>A (p.Ser357=) c.942C>A (p.Ser314=) | COSMIC COSMIC COSMIC |
| 3 | g.38606739G>A | CA352149545 | SCN5A | c.1070C>T (p.Ser357Phe) c.941C>T (p.Ser314Phe) | COSMIC COSMIC COSMIC |
| 3 | g.38606739G>C | CA352149547 | SCN5A | c.1070C>G (p.Ser357Cys) c.941C>G (p.Ser314Cys) | |
| 3 | g.38606739G>T | CA352149549 | SCN5A | c.1070C>A (p.Ser357Tyr) c.941C>A (p.Ser314Tyr) | |
| 3 | g.38606740A>C | CA352149584 | SCN5A | c.1069T>G (p.Ser357Ala) c.940T>G (p.Ser314Ala) | |
| 3 | g.38606740A>G | CA352149557 | SCN5A | c.1069T>C (p.Ser357Pro) c.940T>C (p.Ser314Pro) | |
| 3 | g.38606740A>T | CA352149553 | SCN5A | c.1069T>A (p.Ser357Thr) c.940T>A (p.Ser314Thr) | |
| 3 | g.38606741A= | CA1358586291 | SCN5A | c.1068T= (p.Asp356=) c.939T= (p.Asp313=) | |
| 3 | g.38606741A>C | CA352149587 | SCN5A | c.1068T>G (p.Asp356Glu) c.939T>G (p.Asp313Glu) | |
| 3 | g.38606741A>G | CA014287 | SCN5A | c.1068T>C (p.Asp356=) c.939T>C (p.Asp313=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606741A>T | CA352149591 | SCN5A | c.1068T>A (p.Asp356Glu) c.939T>A (p.Asp313Glu) | |
| 3 | g.38606742T>A | CA352149593 | SCN5A | c.1067A>T (p.Asp356Val) c.938A>T (p.Asp313Val) | |
| 3 | g.38606742T>C | CA352149596 | SCN5A | c.1067A>G (p.Asp356Gly) c.938A>G (p.Asp313Gly) | |
| 3 | g.38606742T>G | CA352149600 | SCN5A | c.1067A>C (p.Asp356Ala) c.938A>C (p.Asp313Ala) | |
| 3 | g.38606743C>A | CA352149609 | SCN5A | c.1066G>T (p.Asp356Tyr) c.937G>T (p.Asp313Tyr) | ClinVar dbSNP |
| 3 | g.38606743C= | CA1358586292 | SCN5A | c.1066G= (p.Asp356=) c.937G= (p.Asp313=) | |
| 3 | g.38606743C>G | CA352149606 | SCN5A | c.1066G>C (p.Asp356His) c.937G>C (p.Asp313His) | |
| 3 | g.38606743C>T | CA014277 | SCN5A | c.1066G>A (p.Asp356Asn) c.937G>A (p.Asp313Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606744G>A | CA014267 | SCN5A | c.1065C>T (p.Phe355=) c.936C>T (p.Phe312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606744G>C | CA352149612 | SCN5A | c.1065C>G (p.Phe355Leu) c.936C>G (p.Phe312Leu) | |
| 3 | g.38606744G= | CA1358586293 | SCN5A | c.1065C= (p.Phe355=) c.936C= (p.Phe312=) | |
| 3 | g.38606744G>T | CA352149614 | SCN5A | c.1065C>A (p.Phe355Leu) c.936C>A (p.Phe312Leu) | |
| 3 | g.38606745A>C | CA352149616 | SCN5A | c.1064T>G (p.Phe355Cys) c.935T>G (p.Phe312Cys) | |
| 3 | g.38606745A>G | CA352149618 | SCN5A | c.1064T>C (p.Phe355Ser) c.935T>C (p.Phe312Ser) | |
| 3 | g.38606745A>T | CA352149622 | SCN5A | c.1064T>A (p.Phe355Tyr) c.935T>A (p.Phe312Tyr) | |
| 3 | g.38606746A>C | CA352149624 | SCN5A | c.1063T>G (p.Phe355Val) c.934T>G (p.Phe312Val) | |
| 3 | g.38606746A>G | CA352149628 | SCN5A | c.1063T>C (p.Phe355Leu) c.934T>C (p.Phe312Leu) | |
| 3 | g.38606746A>T | CA352149626 | SCN5A | c.1063T>A (p.Phe355Ile) c.934T>A (p.Phe312Ile) | |
| 3 | g.38606747G>A | CA433137810 | SCN5A | c.1062C>T (p.Ser354=) c.933C>T (p.Ser311=) | |
| 3 | g.38606747G>C | CA352149631 | SCN5A | c.1062C>G (p.Ser354Arg) c.933C>G (p.Ser311Arg) | |
| 3 | g.38606747G>T | CA352149633 | SCN5A | c.1062C>A (p.Ser354Arg) c.933C>A (p.Ser311Arg) | |
| 3 | g.38606748C>A | CA352149635 | SCN5A | c.1061G>T (p.Ser354Ile) c.932G>T (p.Ser311Ile) | COSMIC COSMIC COSMIC |
| 3 | g.38606748C>G | CA352149637 | SCN5A | c.1061G>C (p.Ser354Thr) c.932G>C (p.Ser311Thr) | |
| 3 | g.38606748C>T | CA352149639 | SCN5A | c.1061G>A (p.Ser354Asn) c.932G>A (p.Ser311Asn) | |
| 3 | g.38606749T>A | CA352149644 | SCN5A | c.1060A>T (p.Ser354Cys) c.931A>T (p.Ser311Cys) | |
| 3 | g.38606749T>C | CA352149646 | SCN5A | c.1060A>G (p.Ser354Gly) c.931A>G (p.Ser311Gly) | |
| 3 | g.38606749T>G | CA352149648 | SCN5A | c.1060A>C (p.Ser354Arg) c.931A>C (p.Ser311Arg) | |
| 3 | g.38606750G>A | CA057068 | SCN5A | c.1059C>T (p.Thr353=) c.930C>T (p.Thr310=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38606750G>C | CA433137811 | SCN5A | c.1059C>G (p.Thr353=) c.930C>G (p.Thr310=) | |
| 3 | g.38606750G= | CA1358586294 | SCN5A | c.1059C= (p.Thr353=) c.930C= (p.Thr310=) | |
| 3 | g.38606750G>T | CA433137812 | SCN5A | c.1059C>A (p.Thr353=) c.930C>A (p.Thr310=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606751G>A | CA014257 | SCN5A | c.1058C>T (p.Thr353Ile) c.929C>T (p.Thr310Ile) | ClinVar dbSNP |
| 3 | g.38606751G>C | CA352149652 | SCN5A | c.1058C>G (p.Thr353Ser) c.929C>G (p.Thr310Ser) | ClinVar dbSNP |
| 3 | g.38606751G= | CA1358586295 | SCN5A | c.1058C= (p.Thr353=) c.929C= (p.Thr310=) | |
| 3 | g.38606751G>T | CA352149655 | SCN5A | c.1058C>A (p.Thr353Asn) c.929C>A (p.Thr310Asn) | |
| 3 | g.38606754_38606761dup | CA2697550812 | SCN5A | c.1051_1058dup (p.Ser354AlafsTer18) c.922_929dup (p.Ser311AlafsTer18) | ClinVar |
| 3 | g.38606752T>A | CA352149657 | SCN5A | c.1057A>T (p.Thr353Ser) c.928A>T (p.Thr310Ser) | |
| 3 | g.38606752T>C | CA352149662 | SCN5A | c.1057A>G (p.Thr353Ala) c.928A>G (p.Thr310Ala) | |
| 3 | g.38606752T>G | CA352149660 | SCN5A | c.1057A>C (p.Thr353Pro) c.928A>C (p.Thr310Pro) | |
| 3 | g.38606753G>A | CA433137813 | SCN5A | c.1056C>T (p.Tyr352=) c.927C>T (p.Tyr309=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606753G>C | CA352149665 | SCN5A | c.1056C>G (p.Tyr352Ter) c.927C>G (p.Tyr309Ter) | |
| 3 | g.38606753G= | CA1358586296 | SCN5A | c.1056C= (p.Tyr352=) c.927C= (p.Tyr309=) | |
| 3 | g.38606753G>T | CA352149667 | SCN5A | c.1056C>A (p.Tyr352Ter) c.927C>A (p.Tyr309Ter) | |
| 3 | g.38606754T>A | CA352149670 | SCN5A | c.1055A>T (p.Tyr352Phe) c.926A>T (p.Tyr309Phe) | |
| 3 | g.38606754T>C | CA352149671 | SCN5A | c.1055A>G (p.Tyr352Cys) c.926A>G (p.Tyr309Cys) | gnomAD v4 |
| 3 | g.38606754T>G | CA352149673 | SCN5A | c.1055A>C (p.Tyr352Ser) c.926A>C (p.Tyr309Ser) | |
| 3 | g.38606755A>C | CA352149675 | SCN5A | c.1054T>G (p.Tyr352Asp) c.925T>G (p.Tyr309Asp) | |
| 3 | g.38606755A>G | CA352149677 | SCN5A | c.1054T>C (p.Tyr352His) c.925T>C (p.Tyr309His) | |
| 3 | g.38606755A>T | CA352149678 | SCN5A | c.1054T>A (p.Tyr352Asn) c.925T>A (p.Tyr309Asn) | |
| 3 | g.38606756G>A | CA433137814 | SCN5A | c.1053C>T (p.Gly351=) c.924C>T (p.Gly308=) | |
| 3 | g.38606756G>C | CA433137815 | SCN5A | c.1053C>G (p.Gly351=) c.924C>G (p.Gly308=) | ClinVar |
| 3 | g.38606756G>T | CA433137816 | SCN5A | c.1053C>A (p.Gly351=) c.924C>A (p.Gly308=) | ClinVar |
| 3 | g.38606757C>A | CA014246 | SCN5A | c.1052G>T (p.Gly351Val) c.923G>T (p.Gly308Val) | ClinVar dbSNP |
| 3 | g.38606757C= | CA1358586297 | SCN5A | c.1052G= (p.Gly351=) c.923G= (p.Gly308=) | |
| 3 | g.38606757C>G | CA352149682 | SCN5A | c.1052G>C (p.Gly351Ala) c.923G>C (p.Gly308Ala) | |
| 3 | g.38606757C>T | CA014239 | SCN5A | c.1052G>A (p.Gly351Asp) c.923G>A (p.Gly308Asp) | ClinVar dbSNP |