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.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 |
| 3 | g.38606758C>A | CA352149687 | SCN5A | c.1051G>T (p.Gly351Cys) c.922G>T (p.Gly308Cys) | |
| 3 | g.38606758C= | CA1358586298 | SCN5A | c.1051G= (p.Gly351=) c.922G= (p.Gly308=) | |
| 3 | g.38606758C>G | CA352149686 | SCN5A | c.1051G>C (p.Gly351Arg) c.922G>C (p.Gly308Arg) | ClinVar |
| 3 | g.38606758C>T | CA057059 | SCN5A | c.1051G>A (p.Gly351Ser) c.922G>A (p.Gly308Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606759G>A | CA014227 | SCN5A | c.1050C>T (p.His350=) c.921C>T (p.His307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606759G>C | CA10576618 | SCN5A | c.1050C>G (p.His350Gln) c.921C>G (p.His307Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606759G= | CA1358586299 | SCN5A | c.1050C= (p.His350=) c.921C= (p.His307=) | |
| 3 | g.38606759G>T | CA352149693 | SCN5A | c.1050C>A (p.His350Gln) c.921C>A (p.His307Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606760T>A | CA352149696 | SCN5A | c.1049A>T (p.His350Leu) c.920A>T (p.His307Leu) | |
| 3 | g.38606760T>C | CA352149698 | SCN5A | c.1049A>G (p.His350Arg) c.920A>G (p.His307Arg) | |
| 3 | g.38606760T>G | CA352149700 | SCN5A | c.1049A>C (p.His350Pro) c.920A>C (p.His307Pro) | |
| 3 | g.38606761G>A | CA352149703 | SCN5A | c.1048C>T (p.His350Tyr) c.919C>T (p.His307Tyr) | |
| 3 | g.38606761G>C | CA352149705 | SCN5A | c.1048C>G (p.His350Asp) c.919C>G (p.His307Asp) | |
| 3 | g.38606761G>T | CA352149707 | SCN5A | c.1048C>A (p.His350Asn) c.919C>A (p.His307Asn) | |
| 3 | g.38606762G>A | CA057043 | SCN5A | c.1047C>T (p.Asp349=) c.918C>T (p.Asp306=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606762G>C | CA352149710 | SCN5A | c.1047C>G (p.Asp349Glu) c.918C>G (p.Asp306Glu) | ClinVar |
| 3 | g.38606762G= | CA1358586300 | SCN5A | c.1047C= (p.Asp349=) c.918C= (p.Asp306=) | |
| 3 | g.38606762G>T | CA352149711 | SCN5A | c.1047C>A (p.Asp349Glu) c.918C>A (p.Asp306Glu) | |
| 3 | g.38606763T>A | CA352149713 | SCN5A | c.1046A>T (p.Asp349Val) c.917A>T (p.Asp306Val) | |
| 3 | g.38606763T>C | CA352149717 | SCN5A | c.1046A>G (p.Asp349Gly) c.917A>G (p.Asp306Gly) | |
| 3 | g.38606763T>G | CA352149715 | SCN5A | c.1046A>C (p.Asp349Ala) c.917A>C (p.Asp306Ala) | |
| 3 | g.38606764C>A | CA352149719 | SCN5A | c.1045G>T (p.Asp349Tyr) c.916G>T (p.Asp306Tyr) | COSMIC |
| 3 | g.38606764C= | CA1358586302 | SCN5A | c.1045G= (p.Asp349=) c.916G= (p.Asp306=) | |
| 3 | g.38606764C>G | CA352149722 | SCN5A | c.1045G>C (p.Asp349His) c.916G>C (p.Asp306His) | |
| 3 | g.38606764C>T | CA057036 | SCN5A | c.1045G>A (p.Asp349Asn) c.916G>A (p.Asp306Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606764_38606765delinsCG | CA1358586301 | SCN5A | c.1044_1045delinsCG (p.Pro348=) c.915_916delinsCG (p.Pro305=) | |
| 3 | g.38606765G>A | CA014219 | SCN5A | c.1044C>T (p.Pro348=) c.915C>T (p.Pro305=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606765G>C | CA433137818 | SCN5A | c.1044C>G (p.Pro348=) c.915C>G (p.Pro305=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606765G= | CA1358586303 | SCN5A | c.1044C= (p.Pro348=) c.915C= (p.Pro305=) | |
| 3 | g.38606765G>T | CA433137817 | SCN5A | c.1044C>A (p.Pro348=) c.915C>A (p.Pro305=) | |
| 3 | g.38606768del | CA1358586304 | SCN5A | c.1044del (p.Asp349ThrfsTer20) c.915del (p.Asp306ThrfsTer20) | ClinVar dbSNP |
| 3 | g.38606766G>A | CA352149727 | SCN5A | c.1043C>T (p.Pro348Leu) c.914C>T (p.Pro305Leu) | |
| 3 | g.38606766G>C | CA352149725 | SCN5A | c.1043C>G (p.Pro348Arg) c.914C>G (p.Pro305Arg) | |
| 3 | g.38606766G>T | CA352149729 | SCN5A | c.1043C>A (p.Pro348His) c.914C>A (p.Pro305His) | |
| 3 | g.38606767G>A | CA352149732 | SCN5A | c.1042C>T (p.Pro348Ser) c.913C>T (p.Pro305Ser) | |
| 3 | g.38606767G>C | CA057027 | SCN5A | c.1042C>G (p.Pro348Ala) c.913C>G (p.Pro305Ala) | dbSNP ExAC gnomAD v2 |
| 3 | g.38606767G= | CA1358586305 | SCN5A | c.1042C= (p.Pro348=) c.913C= (p.Pro305=) | |
| 3 | g.38606767G>T | CA352149740 | SCN5A | c.1042C>A (p.Pro348Thr) c.913C>A (p.Pro305Thr) | |
| 3 | g.38606768G>A | CA433137819 | SCN5A | c.1041C>T (p.Asn347=) c.912C>T (p.Asn304=) | |
| 3 | g.38606768G>C | CA352149749 | SCN5A | c.1041C>G (p.Asn347Lys) c.912C>G (p.Asn304Lys) | |
| 3 | g.38606768G>T | CA352149751 | SCN5A | c.1041C>A (p.Asn347Lys) c.912C>A (p.Asn304Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38606769T>A | CA352149753 | SCN5A | c.1040A>T (p.Asn347Ile) c.911A>T (p.Asn304Ile) | |
| 3 | g.38606769T>C | CA352149754 | SCN5A | c.1040A>G (p.Asn347Ser) c.911A>G (p.Asn304Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38606769T>G | CA352149755 | SCN5A | c.1040A>C (p.Asn347Thr) c.911A>C (p.Asn304Thr) | |
| 3 | g.38606769T= | CA1358586306 | SCN5A | c.1040A= (p.Asn347=) c.911A= (p.Asn304=) | |
| 3 | g.38606770T>A | CA352149756 | SCN5A | c.1039A>T (p.Asn347Tyr) c.910A>T (p.Asn304Tyr) | |
| 3 | g.38606770T>C | CA352149758 | SCN5A | c.1039A>G (p.Asn347Asp) c.910A>G (p.Asn304Asp) | |
| 3 | g.38606770T>G | CA352149761 | SCN5A | c.1039A>C (p.Asn347His) c.910A>C (p.Asn304His) | |
| 3 | g.38606771C>A | CA352149766 | SCN5A | c.1038G>T (p.Glu346Asp) c.909G>T (p.Glu303Asp) | |
| 3 | g.38606771C>G | CA352149768 | SCN5A | c.1038G>C (p.Glu346Asp) c.909G>C (p.Glu303Asp) | COSMIC COSMIC COSMIC |
| 3 | g.38606771C>T | CA433137820 | SCN5A | c.1038G>A (p.Glu346=) c.909G>A (p.Glu303=) | |
| 3 | g.38606772T>A | CA352149771 | SCN5A | c.1037A>T (p.Glu346Val) c.908A>T (p.Glu303Val) | dbSNP |
| 3 | g.38606772T>C | CA057004 | SCN5A | c.1037A>G (p.Glu346Gly) c.908A>G (p.Glu303Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38606772T>G | CA352149772 | SCN5A | c.1037A>C (p.Glu346Ala) c.908A>C (p.Glu303Ala) | |
| 3 | g.38606772T= | CA1358586307 | SCN5A | c.1037A= (p.Glu346=) c.908A= (p.Glu303=) | |
| 3 | g.38606773C>A | CA352149776 | SCN5A | c.1036G>T (p.Glu346Ter) c.907G>T (p.Glu303Ter) | dbSNP |
| 3 | g.38606773C= | CA1358586308 | SCN5A | c.1036G= (p.Glu346=) c.907G= (p.Glu303=) | |
| 3 | g.38606773C>G | CA352149778 | SCN5A | c.1036G>C (p.Glu346Gln) c.907G>C (p.Glu303Gln) | |
| 3 | g.38606773C>T | CA056998 | SCN5A | c.1036G>A (p.Glu346Lys) c.907G>A (p.Glu303Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606774G>A | CA10587577 | SCN5A | c.1035C>T (p.Gly345=) c.906C>T (p.Gly302=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606774G>C | CA433137821 | SCN5A | c.1035C>G (p.Gly345=) c.906C>G (p.Gly302=) | |
| 3 | g.38606774G= | CA1358586309 | SCN5A | c.1035C= (p.Gly345=) c.906C= (p.Gly302=) | |
| 3 | g.38606774G>T | CA433137822 | SCN5A | c.1035C>A (p.Gly345=) c.906C>A (p.Gly302=) | dbSNP gnomAD v4 |
| 3 | g.38606775C>A | CA352149783 | SCN5A | c.1034G>T (p.Gly345Val) c.905G>T (p.Gly302Val) | |
| 3 | g.38606775C>G | CA352149785 | SCN5A | c.1034G>C (p.Gly345Ala) c.905G>C (p.Gly302Ala) | |
| 3 | g.38606775C>T | CA352149786 | SCN5A | c.1034G>A (p.Gly345Asp) c.905G>A (p.Gly302Asp) | ClinVar |
| 3 | g.38606776C>A | CA352149788 | SCN5A | c.1033G>T (p.Gly345Cys) c.904G>T (p.Gly302Cys) | |
| 3 | g.38606776C>G | CA352149790 | SCN5A | c.1033G>C (p.Gly345Arg) c.904G>C (p.Gly302Arg) | |
| 3 | g.38606776C>T | CA352149792 | SCN5A | c.1033G>A (p.Gly345Ser) c.904G>A (p.Gly302Ser) | |
| 3 | g.38606777T>A | CA433137823 | SCN5A | c.1032A>T (p.Ala344=) c.903A>T (p.Ala301=) | |
| 3 | g.38606777T>C | CA433137824 | SCN5A | c.1032A>G (p.Ala344=) c.903A>G (p.Ala301=) | ClinVar gnomAD v4 |
| 3 | g.38606777T>G | CA433137825 | SCN5A | c.1032A>C (p.Ala344=) c.903A>C (p.Ala301=) | |
| 3 | g.38606778G>A | CA352149796 | SCN5A | c.1031C>T (p.Ala344Val) c.902C>T (p.Ala301Val) | |
| 3 | g.38606778G>C | CA352149798 | SCN5A | c.1031C>G (p.Ala344Gly) c.902C>G (p.Ala301Gly) | |
| 3 | g.38606778G>T | CA352149795 | SCN5A | c.1031C>A (p.Ala344Glu) c.902C>A (p.Ala301Glu) | |
| 3 | g.38606779C>A | CA352149800 | SCN5A | c.1030G>T (p.Ala344Ser) c.901G>T (p.Ala301Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606779C= | CA1358586310 | SCN5A | c.1030G= (p.Ala344=) c.901G= (p.Ala301=) | |
| 3 | g.38606779C>G | CA352149802 | SCN5A | c.1030G>C (p.Ala344Pro) c.901G>C (p.Ala301Pro) | |
| 3 | g.38606779C>T | CA352149804 | SCN5A | c.1030G>A (p.Ala344Thr) c.901G>A (p.Ala301Thr) | |
| 3 | g.38606780C>A | CA352149808 | SCN5A | c.1029G>T (p.Lys343Asn) c.900G>T (p.Lys300Asn) | dbSNP |
| 3 | g.38606780C= | CA1358586311 | SCN5A | c.1029G= (p.Lys343=) c.900G= (p.Lys300=) | |
| 3 | g.38606780C>G | CA352149809 | SCN5A | c.1029G>C (p.Lys343Asn) c.900G>C (p.Lys300Asn) | |
| 3 | g.38606780C>T | CA433137826 | SCN5A | c.1029G>A (p.Lys343=) c.900G>A (p.Lys300=) | ClinVar dbSNP |
| 3 | g.38606781T>A | CA352149812 | SCN5A | c.1028A>T (p.Lys343Met) c.899A>T (p.Lys300Met) | |
| 3 | g.38606781T>C | CA352149814 | SCN5A | c.1028A>G (p.Lys343Arg) c.899A>G (p.Lys300Arg) | |
| 3 | g.38606781T>G | CA352149816 | SCN5A | c.1028A>C (p.Lys343Thr) c.899A>C (p.Lys300Thr) | |
| 3 | g.38606782T>A | CA352149818 | SCN5A | c.1027A>T (p.Lys343Ter) c.898A>T (p.Lys300Ter) | dbSNP |
| 3 | g.38606782T>C | CA352149819 | SCN5A | c.1027A>G (p.Lys343Glu) c.898A>G (p.Lys300Glu) | COSMIC COSMIC COSMIC |
| 3 | g.38606782T>G | CA352149820 | SCN5A | c.1027A>C (p.Lys343Gln) c.898A>C (p.Lys300Gln) | |
| 3 | g.38606782T= | CA1358586312 | SCN5A | c.1027A= (p.Lys343=) c.898A= (p.Lys300=) | |
| 3 | g.38606783T>A | CA433137832 | SCN5A | c.1026A>T (p.Leu342=) c.897A>T (p.Leu299=) | |
| 3 | g.38606783T>C | CA433137831 | SCN5A | c.1026A>G (p.Leu342=) c.897A>G (p.Leu299=) | |
| 3 | g.38606783T>G | CA433137830 | SCN5A | c.1026A>C (p.Leu342=) c.897A>C (p.Leu299=) | |
| 3 | g.38606784A>C | CA352149824 | SCN5A | c.1025T>G (p.Leu342Arg) c.896T>G (p.Leu299Arg) | |
| 3 | g.38606784A>G | CA352149826 | SCN5A | c.1025T>C (p.Leu342Pro) c.896T>C (p.Leu299Pro) | |
| 3 | g.38606784A>T | CA352149828 | SCN5A | c.1025T>A (p.Leu342Gln) c.896T>A (p.Leu299Gln) | |
| 3 | g.38606785G>A | CA433137834 | SCN5A | c.1024C>T (p.Leu342=) c.895C>T (p.Leu299=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606785G>C | CA352149830 | SCN5A | c.1024C>G (p.Leu342Val) c.895C>G (p.Leu299Val) | |
| 3 | g.38606785G= | CA1358586313 | SCN5A | c.1024C= (p.Leu342=) c.895C= (p.Leu299=) | |
| 3 | g.38606785G>T | CA352149832 | SCN5A | c.1024C>A (p.Leu342Ile) c.895C>A (p.Leu299Ile) | |
| 3 | g.38606786G>A | CA056985 | SCN5A | c.1023C>T (p.Cys341=) c.894C>T (p.Cys298=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606786G>C | CA352149835 | SCN5A | c.1023C>G (p.Cys341Trp) c.894C>G (p.Cys298Trp) | |
| 3 | g.38606786G= | CA1358586314 | SCN5A | c.1023C= (p.Cys341=) c.894C= (p.Cys298=) | |
| 3 | g.38606786G>T | CA352149837 | SCN5A | c.1023C>A (p.Cys341Ter) c.894C>A (p.Cys298Ter) | dbSNP |
| 3 | g.38606787C>A | CA352149840 | SCN5A | c.1022G>T (p.Cys341Phe) c.893G>T (p.Cys298Phe) | |
| 3 | g.38606787C>G | CA352149842 | SCN5A | c.1022G>C (p.Cys341Ser) c.893G>C (p.Cys298Ser) | |
| 3 | g.38606787C>T | CA352149844 | SCN5A | c.1022G>A (p.Cys341Tyr) c.893G>A (p.Cys298Tyr) | |
| 3 | g.38606788A>C | CA352149847 | SCN5A | c.1021T>G (p.Cys341Gly) c.892T>G (p.Cys298Gly) | |
| 3 | g.38606788A>G | CA352149848 | SCN5A | c.1021T>C (p.Cys341Arg) c.892T>C (p.Cys298Arg) | |
| 3 | g.38606788A>T | CA352149850 | SCN5A | c.1021T>A (p.Cys341Ser) c.892T>A (p.Cys298Ser) | |
| 3 | g.38606789C>A | CA014199 | SCN5A | c.1020G>T (p.Arg340=) c.891G>T (p.Arg297=) | ClinVar dbSNP |
| 3 | g.38606789C= | CA1358586315 | SCN5A | c.1020G= (p.Arg340=) c.891G= (p.Arg297=) | |
| 3 | g.38606789C>G | CA433137842 | SCN5A | c.1020G>C (p.Arg340=) c.891G>C (p.Arg297=) | |
| 3 | g.38606789C>T | CA433137841 | SCN5A | c.1020G>A (p.Arg340=) c.891G>A (p.Arg297=) | |
| 3 | g.38606790C>A | CA72940630 | SCN5A | c.1019G>T (p.Arg340Leu) c.890G>T (p.Arg297Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38606790C= | CA1358586316 | SCN5A | c.1019G= (p.Arg340=) c.890G= (p.Arg297=) | |
| 3 | g.38606790C>G | CA352149855 | SCN5A | c.1019G>C (p.Arg340Pro) c.890G>C (p.Arg297Pro) | |
| 3 | g.38606790C>T | CA014177 | SCN5A | c.1019G>A (p.Arg340Gln) c.890G>A (p.Arg297Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606791G>A | CA014168 | SCN5A | c.1018C>T (p.Arg340Trp) c.889C>T (p.Arg297Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606791G>C | CA352149859 | SCN5A | c.1018C>G (p.Arg340Gly) c.889C>G (p.Arg297Gly) | gnomAD v4 |
| 3 | g.38606791G= | CA1358586317 | SCN5A | c.1018C= (p.Arg340=) c.889C= (p.Arg297=) | |
| 3 | g.38606791G>T | CA433137843 | SCN5A | c.1018C>A (p.Arg340=) c.889C>A (p.Arg297=) | |
| 3 | g.38606792G>A | CA056958 | SCN5A | c.1017C>T (p.Tyr339=) c.888C>T (p.Tyr296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606792G>C | CA352149863 | SCN5A | c.1017C>G (p.Tyr339Ter) c.888C>G (p.Tyr296Ter) | |
| 3 | g.38606792G= | CA1358586318 | SCN5A | c.1017C= (p.Tyr339=) c.888C= (p.Tyr296=) | |
| 3 | g.38606792G>T | CA352149862 | SCN5A | c.1017C>A (p.Tyr339Ter) c.888C>A (p.Tyr296Ter) | |
| 3 | g.38606793T>A | CA352149866 | SCN5A | c.1016A>T (p.Tyr339Phe) c.887A>T (p.Tyr296Phe) | |
| 3 | g.38606793T>C | CA352149867 | SCN5A | c.1016A>G (p.Tyr339Cys) c.887A>G (p.Tyr296Cys) | |
| 3 | g.38606793T>G | CA352149869 | SCN5A | c.1016A>C (p.Tyr339Ser) c.887A>C (p.Tyr296Ser) | |
| 3 | g.38606794A= | CA1358586319 | SCN5A | c.1015T= (p.Tyr339=) c.886T= (p.Tyr296=) | |
| 3 | g.38606794A>C | CA352149871 | SCN5A | c.1015T>G (p.Tyr339Asp) c.886T>G (p.Tyr296Asp) | |
| 3 | g.38606794A>G | CA352149873 | SCN5A | c.1015T>C (p.Tyr339His) c.886T>C (p.Tyr296His) | ClinVar dbSNP |
| 3 | g.38606794A>T | CA352149874 | SCN5A | c.1015T>A (p.Tyr339Asn) c.886T>A (p.Tyr296Asn) | COSMIC COSMIC COSMIC |
| 3 | g.38606795G>A | CA433137845 | SCN5A | c.1014C>T (p.Gly338=) c.885C>T (p.Gly295=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606795G>C | CA433137847 | SCN5A | c.1014C>G (p.Gly338=) c.885C>G (p.Gly295=) | |
| 3 | g.38606795G= | CA1358586320 | SCN5A | c.1014C= (p.Gly338=) c.885C= (p.Gly295=) | |
| 3 | g.38606795G>T | CA433137848 | SCN5A | c.1014C>A (p.Gly338=) c.885C>A (p.Gly295=) | COSMIC COSMIC COSMIC |
| 3 | g.38606796C>A | CA352149877 | SCN5A | c.1013G>T (p.Gly338Val) c.884G>T (p.Gly295Val) | |
| 3 | g.38606796C>G | CA352149879 | SCN5A | c.1013G>C (p.Gly338Ala) c.884G>C (p.Gly295Ala) | |
| 3 | g.38606796C>T | CA352149881 | SCN5A | c.1013G>A (p.Gly338Asp) c.884G>A (p.Gly295Asp) | |
| 3 | g.38606797C>A | CA352149882 | SCN5A | c.1012G>T (p.Gly338Cys) c.883G>T (p.Gly295Cys) | |
| 3 | g.38606797C>G | CA352149884 | SCN5A | c.1012G>C (p.Gly338Arg) c.883G>C (p.Gly295Arg) | gnomAD v4 |
| 3 | g.38606797C>T | CA352149886 | SCN5A | c.1012G>A (p.Gly338Ser) c.883G>A (p.Gly295Ser) | |
| 3 | g.38606798C>A | CA352149888 | SCN5A | c.1011G>T (p.Glu337Asp) c.882G>T (p.Glu294Asp) | |
| 3 | g.38606798C>G | CA352149889 | SCN5A | c.1011G>C (p.Glu337Asp) c.882G>C (p.Glu294Asp) | |
| 3 | g.38606798C>T | CA433137849 | SCN5A | c.1011G>A (p.Glu337=) c.882G>A (p.Glu294=) | dbSNP gnomAD v4 |
| 3 | g.38606799T>A | CA352149892 | SCN5A | c.1010A>T (p.Glu337Val) c.881A>T (p.Glu294Val) | |
| 3 | g.38606799T>C | CA352149893 | SCN5A | c.1010A>G (p.Glu337Gly) c.881A>G (p.Glu294Gly) | |
| 3 | g.38606799T>G | CA352149895 | SCN5A | c.1010A>C (p.Glu337Ala) c.881A>C (p.Glu294Ala) | |
| 3 | g.38606800C>A | CA352149896 | SCN5A | c.1009G>T (p.Glu337Ter) c.880G>T (p.Glu294Ter) | dbSNP |
| 3 | g.38606800C= | CA1358586321 | SCN5A | c.1009G= (p.Glu337=) c.880G= (p.Glu294=) | |
| 3 | g.38606800C>G | CA352149897 | SCN5A | c.1009G>C (p.Glu337Gln) c.880G>C (p.Glu294Gln) | gnomAD v4 |
| 3 | g.38606800C>T | CA352149898 | SCN5A | c.1009G>A (p.Glu337Lys) c.880G>A (p.Glu294Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38606801C>A | CA433137853 | SCN5A | c.1008G>T (p.Pro336=) c.879G>T (p.Pro293=) | |
| 3 | g.38606801C= | CA1358586322 | SCN5A | c.1008G= (p.Pro336=) c.879G= (p.Pro293=) | |
| 3 | g.38606801C>G | CA433137854 | SCN5A | c.1008G>C (p.Pro336=) c.879G>C (p.Pro293=) | |
| 3 | g.38606801C>T | CA014149 | SCN5A | c.1008G>A (p.Pro336=) c.879G>A (p.Pro293=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606802G>A | CA014136 | SCN5A | c.1007C>T (p.Pro336Leu) c.878C>T (p.Pro293Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606802G>C | CA352149902 | SCN5A | c.1007C>G (p.Pro336Arg) c.878C>G (p.Pro293Arg) | |
| 3 | g.38606802G= | CA1358586323 | SCN5A | c.1007C= (p.Pro336=) c.878C= (p.Pro293=) | |
| 3 | g.38606802G>T | CA352149904 | SCN5A | c.1007C>A (p.Pro336Gln) c.878C>A (p.Pro293Gln) | |
| 3 | g.38606803G>A | CA352149905 | SCN5A | c.1006C>T (p.Pro336Ser) c.877C>T (p.Pro293Ser) | |
| 3 | g.38606803G>C | CA352149906 | SCN5A | c.1006C>G (p.Pro336Ala) c.877C>G (p.Pro293Ala) | |
| 3 | g.38606803G>T | CA352149907 | SCN5A | c.1006C>A (p.Pro336Thr) c.877C>A (p.Pro293Thr) |