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.38556539A= | CA1358563505 | SCN5A | c.4336T= (p.Tyr1446=) c.4339T= (p.Tyr1447=) c.4285T= (p.Tyr1429=) c.4177T= (p.Tyr1393=) c.4210T= (p.Tyr1404=) c.4282T= (p.Tyr1428=) | |
| 3 | g.38556539A>C | CA352145440 | SCN5A | c.4336T>G (p.Tyr1446Asp) c.4339T>G (p.Tyr1447Asp) c.4285T>G (p.Tyr1429Asp) c.4177T>G (p.Tyr1393Asp) c.4210T>G (p.Tyr1404Asp) c.4282T>G (p.Tyr1428Asp) | gnomAD v4 |
| 3 | g.38556539A>G | CA16617946 | SCN5A | c.4336T>C (p.Tyr1446His) c.4339T>C (p.Tyr1447His) c.4285T>C (p.Tyr1429His) c.4177T>C (p.Tyr1393His) c.4210T>C (p.Tyr1404His) c.4282T>C (p.Tyr1428His) | ClinVar dbSNP |
| 3 | g.38556539A>T | CA352145441 | SCN5A | c.4336T>A (p.Tyr1446Asn) c.4339T>A (p.Tyr1447Asn) c.4285T>A (p.Tyr1429Asn) c.4177T>A (p.Tyr1393Asn) c.4210T>A (p.Tyr1404Asn) c.4282T>A (p.Tyr1428Asn) | gnomAD v4 |
| 3 | g.38556540C>A | CA352145442 | SCN5A | c.4335G>T (p.Met1445Ile) c.4338G>T (p.Met1446Ile) c.4284G>T (p.Met1428Ile) c.4176G>T (p.Met1392Ile) c.4209G>T (p.Met1403Ile) c.4281G>T (p.Met1427Ile) | gnomAD v4 |
| 3 | g.38556540C= | CA1358563508 | SCN5A | c.4335G= (p.Met1445=) c.4338G= (p.Met1446=) c.4284G= (p.Met1428=) c.4176G= (p.Met1392=) c.4209G= (p.Met1403=) c.4281G= (p.Met1427=) | |
| 3 | g.38556540C>G | CA352145443 | SCN5A | c.4335G>C (p.Met1445Ile) c.4338G>C (p.Met1446Ile) c.4284G>C (p.Met1428Ile) c.4176G>C (p.Met1392Ile) c.4209G>C (p.Met1403Ile) c.4281G>C (p.Met1427Ile) | |
| 3 | g.38556540C>T | CA018146 | SCN5A | c.4335G>A (p.Met1445Ile) c.4338G>A (p.Met1446Ile) c.4284G>A (p.Met1428Ile) c.4176G>A (p.Met1392Ile) c.4209G>A (p.Met1403Ile) c.4281G>A (p.Met1427Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556541A= | CA1358563512 | SCN5A | c.4334T= (p.Met1445=) c.4337T= (p.Met1446=) c.4283T= (p.Met1428=) c.4175T= (p.Met1392=) c.4208T= (p.Met1403=) c.4280T= (p.Met1427=) | |
| 3 | g.38556541A>C | CA352145444 | SCN5A | c.4334T>G (p.Met1445Arg) c.4337T>G (p.Met1446Arg) c.4283T>G (p.Met1428Arg) c.4175T>G (p.Met1392Arg) c.4208T>G (p.Met1403Arg) c.4280T>G (p.Met1427Arg) | |
| 3 | g.38556541A>G | CA352145445 | SCN5A | c.4334T>C (p.Met1445Thr) c.4337T>C (p.Met1446Thr) c.4283T>C (p.Met1428Thr) c.4175T>C (p.Met1392Thr) c.4208T>C (p.Met1403Thr) c.4280T>C (p.Met1427Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556541A>T | CA352145446 | SCN5A | c.4334T>A (p.Met1445Lys) c.4337T>A (p.Met1446Lys) c.4283T>A (p.Met1428Lys) c.4175T>A (p.Met1392Lys) c.4208T>A (p.Met1403Lys) c.4280T>A (p.Met1427Lys) | |
| 3 | g.38556542T>A | CA352145447 | SCN5A | c.4333A>T (p.Met1445Leu) c.4336A>T (p.Met1446Leu) c.4282A>T (p.Met1428Leu) c.4174A>T (p.Met1392Leu) c.4207A>T (p.Met1403Leu) c.4279A>T (p.Met1427Leu) | |
| 3 | g.38556542T>C | CA352145448 | SCN5A | c.4333A>G (p.Met1445Val) c.4336A>G (p.Met1446Val) c.4282A>G (p.Met1428Val) c.4174A>G (p.Met1392Val) c.4207A>G (p.Met1403Val) c.4279A>G (p.Met1427Val) | dbSNP |
| 3 | g.38556542T>G | CA352145449 | SCN5A | c.4333A>C (p.Met1445Leu) c.4336A>C (p.Met1446Leu) c.4282A>C (p.Met1428Leu) c.4174A>C (p.Met1392Leu) c.4207A>C (p.Met1403Leu) c.4279A>C (p.Met1427Leu) | |
| 3 | g.38556542T= | CA1358563514 | SCN5A | c.4333A= (p.Met1445=) c.4336A= (p.Met1446=) c.4282A= (p.Met1428=) c.4174A= (p.Met1392=) c.4207A= (p.Met1403=) c.4279A= (p.Met1427=) | |
| 3 | g.38556543G>A | CA433136145 | SCN5A | c.4332C>T (p.Tyr1444=) c.4335C>T (p.Tyr1445=) c.4281C>T (p.Tyr1427=) c.4173C>T (p.Tyr1391=) c.4206C>T (p.Tyr1402=) c.4278C>T (p.Tyr1426=) | |
| 3 | g.38556543G>C | CA352145451 | SCN5A | c.4332C>G (p.Tyr1444Ter) c.4335C>G (p.Tyr1445Ter) c.4281C>G (p.Tyr1427Ter) c.4173C>G (p.Tyr1391Ter) c.4206C>G (p.Tyr1402Ter) c.4278C>G (p.Tyr1426Ter) | |
| 3 | g.38556543G>T | CA352145450 | SCN5A | c.4332C>A (p.Tyr1444Ter) c.4335C>A (p.Tyr1445Ter) c.4281C>A (p.Tyr1427Ter) c.4173C>A (p.Tyr1391Ter) c.4206C>A (p.Tyr1402Ter) c.4278C>A (p.Tyr1426Ter) | |
| 3 | g.38556544T>A | CA352145452 | SCN5A | c.4331A>T (p.Tyr1444Phe) c.4334A>T (p.Tyr1445Phe) c.4280A>T (p.Tyr1427Phe) c.4172A>T (p.Tyr1391Phe) c.4205A>T (p.Tyr1402Phe) c.4277A>T (p.Tyr1426Phe) | |
| 3 | g.38556544T>C | CA352145454 | SCN5A | c.4331A>G (p.Tyr1444Cys) c.4334A>G (p.Tyr1445Cys) c.4280A>G (p.Tyr1427Cys) c.4172A>G (p.Tyr1391Cys) c.4205A>G (p.Tyr1402Cys) c.4277A>G (p.Tyr1426Cys) | gnomAD v4 |
| 3 | g.38556544T>G | CA352145453 | SCN5A | c.4331A>C (p.Tyr1444Ser) c.4334A>C (p.Tyr1445Ser) c.4280A>C (p.Tyr1427Ser) c.4172A>C (p.Tyr1391Ser) c.4205A>C (p.Tyr1402Ser) c.4277A>C (p.Tyr1426Ser) | gnomAD v4 |
| 3 | g.38556545A= | CA1358563519 | SCN5A | c.4330T= (p.Tyr1444=) c.4333T= (p.Tyr1445=) c.4279T= (p.Tyr1427=) c.4171T= (p.Tyr1391=) c.4204T= (p.Tyr1402=) c.4276T= (p.Tyr1426=) | |
| 3 | g.38556545A>C | CA352145455 | SCN5A | c.4330T>G (p.Tyr1444Asp) c.4333T>G (p.Tyr1445Asp) c.4279T>G (p.Tyr1427Asp) c.4171T>G (p.Tyr1391Asp) c.4204T>G (p.Tyr1402Asp) c.4276T>G (p.Tyr1426Asp) | |
| 3 | g.38556545A>G | CA063134 | SCN5A | c.4330T>C (p.Tyr1444His) c.4333T>C (p.Tyr1445His) c.4279T>C (p.Tyr1427His) c.4171T>C (p.Tyr1391His) c.4204T>C (p.Tyr1402His) c.4276T>C (p.Tyr1426His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38556545A>T | CA352145456 | SCN5A | c.4330T>A (p.Tyr1444Asn) c.4333T>A (p.Tyr1445Asn) c.4279T>A (p.Tyr1427Asn) c.4171T>A (p.Tyr1391Asn) c.4204T>A (p.Tyr1402Asn) c.4276T>A (p.Tyr1426Asn) | |
| 3 | g.38556546G>A | CA433136146 | SCN5A | c.4329C>T (p.Leu1443=) c.4332C>T (p.Leu1444=) c.4278C>T (p.Leu1426=) c.4170C>T (p.Leu1390=) c.4203C>T (p.Leu1401=) c.4275C>T (p.Leu1425=) | |
| 3 | g.38556546G>C | CA433136147 | SCN5A | c.4329C>G (p.Leu1443=) c.4332C>G (p.Leu1444=) c.4278C>G (p.Leu1426=) c.4170C>G (p.Leu1390=) c.4203C>G (p.Leu1401=) c.4275C>G (p.Leu1425=) | |
| 3 | g.38556546G>T | CA433136149 | SCN5A | c.4329C>A (p.Leu1443=) c.4332C>A (p.Leu1444=) c.4278C>A (p.Leu1426=) c.4170C>A (p.Leu1390=) c.4203C>A (p.Leu1401=) c.4275C>A (p.Leu1425=) | |
| 3 | g.38556547A>C | CA352145457 | SCN5A | c.4328T>G (p.Leu1443Arg) c.4331T>G (p.Leu1444Arg) c.4277T>G (p.Leu1426Arg) c.4169T>G (p.Leu1390Arg) c.4202T>G (p.Leu1401Arg) c.4274T>G (p.Leu1425Arg) | |
| 3 | g.38556547A>G | CA352145458 | SCN5A | c.4328T>C (p.Leu1443Pro) c.4331T>C (p.Leu1444Pro) c.4277T>C (p.Leu1426Pro) c.4169T>C (p.Leu1390Pro) c.4202T>C (p.Leu1401Pro) c.4274T>C (p.Leu1425Pro) | |
| 3 | g.38556547A>T | CA352145459 | SCN5A | c.4328T>A (p.Leu1443His) c.4331T>A (p.Leu1444His) c.4277T>A (p.Leu1426His) c.4169T>A (p.Leu1390His) c.4202T>A (p.Leu1401His) c.4274T>A (p.Leu1425His) | |
| 3 | g.38556548G>A | CA352145460 | SCN5A | c.4327C>T (p.Leu1443Phe) c.4330C>T (p.Leu1444Phe) c.4276C>T (p.Leu1426Phe) c.4168C>T (p.Leu1390Phe) c.4201C>T (p.Leu1401Phe) c.4273C>T (p.Leu1425Phe) | |
| 3 | g.38556548G>C | CA352145461 | SCN5A | c.4327C>G (p.Leu1443Val) c.4330C>G (p.Leu1444Val) c.4276C>G (p.Leu1426Val) c.4168C>G (p.Leu1390Val) c.4201C>G (p.Leu1401Val) c.4273C>G (p.Leu1425Val) | |
| 3 | g.38556548G= | CA1358563521 | SCN5A | c.4327C= (p.Leu1443=) c.4330C= (p.Leu1444=) c.4276C= (p.Leu1426=) c.4168C= (p.Leu1390=) c.4201C= (p.Leu1401=) c.4273C= (p.Leu1425=) | |
| 3 | g.38556548G>T | CA352145462 | SCN5A | c.4327C>A (p.Leu1443Ile) c.4330C>A (p.Leu1444Ile) c.4276C>A (p.Leu1426Ile) c.4168C>A (p.Leu1390Ile) c.4201C>A (p.Leu1401Ile) c.4273C>A (p.Leu1425Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556549G>A | CA433136152 | SCN5A | c.4326C>T (p.Asn1442=) c.4329C>T (p.Asn1443=) c.4275C>T (p.Asn1425=) c.4167C>T (p.Asn1389=) c.4200C>T (p.Asn1400=) c.4272C>T (p.Asn1424=) | ClinVar dbSNP |
| 3 | g.38556549G>C | CA352145463 | SCN5A | c.4326C>G (p.Asn1442Lys) c.4329C>G (p.Asn1443Lys) c.4275C>G (p.Asn1425Lys) c.4167C>G (p.Asn1389Lys) c.4200C>G (p.Asn1400Lys) c.4272C>G (p.Asn1424Lys) | |
| 3 | g.38556549G= | CA1358563525 | SCN5A | c.4326C= (p.Asn1442=) c.4329C= (p.Asn1443=) c.4275C= (p.Asn1425=) c.4167C= (p.Asn1389=) c.4200C= (p.Asn1400=) c.4272C= (p.Asn1424=) | |
| 3 | g.38556549G>T | CA352145464 | SCN5A | c.4326C>A (p.Asn1442Lys) c.4329C>A (p.Asn1443Lys) c.4275C>A (p.Asn1425Lys) c.4167C>A (p.Asn1389Lys) c.4200C>A (p.Asn1400Lys) c.4272C>A (p.Asn1424Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556550T>A | CA352145465 | SCN5A | c.4325A>T (p.Asn1442Ile) c.4328A>T (p.Asn1443Ile) c.4274A>T (p.Asn1425Ile) c.4166A>T (p.Asn1389Ile) c.4199A>T (p.Asn1400Ile) c.4271A>T (p.Asn1424Ile) | |
| 3 | g.38556550T>C | CA352145466 | SCN5A | c.4325A>G (p.Asn1442Ser) c.4328A>G (p.Asn1443Ser) c.4274A>G (p.Asn1425Ser) c.4166A>G (p.Asn1389Ser) c.4199A>G (p.Asn1400Ser) c.4271A>G (p.Asn1424Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556550T>G | CA352145467 | SCN5A | c.4325A>C (p.Asn1442Thr) c.4328A>C (p.Asn1443Thr) c.4274A>C (p.Asn1425Thr) c.4166A>C (p.Asn1389Thr) c.4199A>C (p.Asn1400Thr) c.4271A>C (p.Asn1424Thr) | ClinVar |
| 3 | g.38556550T= | CA1358563529 | SCN5A | c.4325A= (p.Asn1442=) c.4328A= (p.Asn1443=) c.4274A= (p.Asn1425=) c.4166A= (p.Asn1389=) c.4199A= (p.Asn1400=) c.4271A= (p.Asn1424=) | |
| 3 | g.38556551del | CA2697550803 | SCN5A | c.4325del (p.Asn1442ThrfsTer20) c.4328del (p.Asn1443ThrfsTer20) c.4274del (p.Asn1425ThrfsTer20) c.4166del (p.Asn1389ThrfsTer20) c.4199del (p.Asn1400ThrfsTer20) c.4271del (p.Asn1424ThrfsTer20) | ClinVar |
| 3 | g.38556551T>A | CA352145470 | SCN5A | c.4324A>T (p.Asn1442Tyr) c.4327A>T (p.Asn1443Tyr) c.4273A>T (p.Asn1425Tyr) c.4165A>T (p.Asn1389Tyr) c.4198A>T (p.Asn1400Tyr) c.4270A>T (p.Asn1424Tyr) | |
| 3 | g.38556551T>C | CA352145468 | SCN5A | c.4324A>G (p.Asn1442Asp) c.4327A>G (p.Asn1443Asp) c.4273A>G (p.Asn1425Asp) c.4165A>G (p.Asn1389Asp) c.4198A>G (p.Asn1400Asp) c.4270A>G (p.Asn1424Asp) | |
| 3 | g.38556551T>G | CA352145469 | SCN5A | c.4324A>C (p.Asn1442His) c.4327A>C (p.Asn1443His) c.4273A>C (p.Asn1425His) c.4165A>C (p.Asn1389His) c.4198A>C (p.Asn1400His) c.4270A>C (p.Asn1424His) | |
| 3 | g.38556552G>A | CA433136156 | SCN5A | c.4323C>T (p.Tyr1441=) c.4326C>T (p.Tyr1442=) c.4272C>T (p.Tyr1424=) c.4164C>T (p.Tyr1388=) c.4197C>T (p.Tyr1399=) c.4269C>T (p.Tyr1423=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556552G>C | CA352145471 | SCN5A | c.4323C>G (p.Tyr1441Ter) c.4326C>G (p.Tyr1442Ter) c.4272C>G (p.Tyr1424Ter) c.4164C>G (p.Tyr1388Ter) c.4197C>G (p.Tyr1399Ter) c.4269C>G (p.Tyr1423Ter) | |
| 3 | g.38556552G= | CA1358563534 | SCN5A | c.4323C= (p.Tyr1441=) c.4326C= (p.Tyr1442=) c.4272C= (p.Tyr1424=) c.4164C= (p.Tyr1388=) c.4197C= (p.Tyr1399=) c.4269C= (p.Tyr1423=) | |
| 3 | g.38556552G>T | CA352145472 | SCN5A | c.4323C>A (p.Tyr1441Ter) c.4326C>A (p.Tyr1442Ter) c.4272C>A (p.Tyr1424Ter) c.4164C>A (p.Tyr1388Ter) c.4197C>A (p.Tyr1399Ter) c.4269C>A (p.Tyr1423Ter) | |
| 3 | g.38556553T>A | CA352145473 | SCN5A | c.4322A>T (p.Tyr1441Phe) c.4325A>T (p.Tyr1442Phe) c.4271A>T (p.Tyr1424Phe) c.4163A>T (p.Tyr1388Phe) c.4196A>T (p.Tyr1399Phe) c.4268A>T (p.Tyr1423Phe) | |
| 3 | g.38556553T>C | CA063128 | SCN5A | c.4322A>G (p.Tyr1441Cys) c.4325A>G (p.Tyr1442Cys) c.4271A>G (p.Tyr1424Cys) c.4163A>G (p.Tyr1388Cys) c.4196A>G (p.Tyr1399Cys) c.4268A>G (p.Tyr1423Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38556553T>G | CA352145474 | SCN5A | c.4322A>C (p.Tyr1441Ser) c.4325A>C (p.Tyr1442Ser) c.4271A>C (p.Tyr1424Ser) c.4163A>C (p.Tyr1388Ser) c.4196A>C (p.Tyr1399Ser) c.4268A>C (p.Tyr1423Ser) | |
| 3 | g.38556553T= | CA1358563539 | SCN5A | c.4322A= (p.Tyr1441=) c.4325A= (p.Tyr1442=) c.4271A= (p.Tyr1424=) c.4163A= (p.Tyr1388=) c.4196A= (p.Tyr1399=) c.4268A= (p.Tyr1423=) | |
| 3 | g.38556554A= | CA1358563542 | SCN5A | c.4321T= (p.Tyr1441=) c.4324T= (p.Tyr1442=) c.4270T= (p.Tyr1424=) c.4162T= (p.Tyr1388=) c.4195T= (p.Tyr1399=) c.4267T= (p.Tyr1423=) | |
| 3 | g.38556554A>C | CA72943351 | SCN5A | c.4321T>G (p.Tyr1441Asp) c.4324T>G (p.Tyr1442Asp) c.4270T>G (p.Tyr1424Asp) c.4162T>G (p.Tyr1388Asp) c.4195T>G (p.Tyr1399Asp) c.4267T>G (p.Tyr1423Asp) | dbSNP |
| 3 | g.38556554A>G | CA352145475 | SCN5A | c.4321T>C (p.Tyr1441His) c.4324T>C (p.Tyr1442His) c.4270T>C (p.Tyr1424His) c.4162T>C (p.Tyr1388His) c.4195T>C (p.Tyr1399His) c.4267T>C (p.Tyr1423His) | |
| 3 | g.38556554A>T | CA063121 | SCN5A | c.4321T>A (p.Tyr1441Asn) c.4324T>A (p.Tyr1442Asn) c.4270T>A (p.Tyr1424Asn) c.4162T>A (p.Tyr1388Asn) c.4195T>A (p.Tyr1399Asn) c.4267T>A (p.Tyr1423Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38556555T>A | CA352145476 | SCN5A | c.4320A>T (p.Glu1440Asp) c.4323A>T (p.Glu1441Asp) c.4269A>T (p.Glu1423Asp) c.4161A>T (p.Glu1387Asp) c.4194A>T (p.Glu1398Asp) c.4266A>T (p.Glu1422Asp) | |
| 3 | g.38556555T>C | CA433136158 | SCN5A | c.4320A>G (p.Glu1440=) c.4323A>G (p.Glu1441=) c.4269A>G (p.Glu1423=) c.4161A>G (p.Glu1387=) c.4194A>G (p.Glu1398=) c.4266A>G (p.Glu1422=) | |
| 3 | g.38556555T>G | CA352145477 | SCN5A | c.4320A>C (p.Glu1440Asp) c.4323A>C (p.Glu1441Asp) c.4269A>C (p.Glu1423Asp) c.4161A>C (p.Glu1387Asp) c.4194A>C (p.Glu1398Asp) c.4266A>C (p.Glu1422Asp) | |
| 3 | g.38556556dup | CA2499216731 | SCN5A | c.4320dup (p.Tyr1441IlefsTer30) c.4323dup (p.Tyr1442IlefsTer30) c.4269dup (p.Tyr1424IlefsTer30) c.4161dup (p.Tyr1388IlefsTer30) c.4194dup (p.Tyr1399IlefsTer30) c.4266dup (p.Tyr1423IlefsTer30) | ClinVar dbSNP |
| 3 | g.38556556T>A | CA352145479 | SCN5A | c.4319A>T (p.Glu1440Val) c.4322A>T (p.Glu1441Val) c.4268A>T (p.Glu1423Val) c.4160A>T (p.Glu1387Val) c.4193A>T (p.Glu1398Val) c.4265A>T (p.Glu1422Val) | |
| 3 | g.38556556T>C | CA352145480 | SCN5A | c.4319A>G (p.Glu1440Gly) c.4322A>G (p.Glu1441Gly) c.4268A>G (p.Glu1423Gly) c.4160A>G (p.Glu1387Gly) c.4193A>G (p.Glu1398Gly) c.4265A>G (p.Glu1422Gly) | |
| 3 | g.38556556T>G | CA352145478 | SCN5A | c.4319A>C (p.Glu1440Ala) c.4322A>C (p.Glu1441Ala) c.4268A>C (p.Glu1423Ala) c.4160A>C (p.Glu1387Ala) c.4193A>C (p.Glu1398Ala) c.4265A>C (p.Glu1422Ala) | |
| 3 | g.38556556_38556557delinsTC | CA1358563545 | SCN5A | c.4318_4319delinsGA (p.Glu1440=) c.4321_4322delinsGA (p.Glu1441=) c.4267_4268delinsGA (p.Glu1423=) c.4159_4160delinsGA (p.Glu1387=) c.4192_4193delinsGA (p.Glu1398=) c.4264_4265delinsGA (p.Glu1422=) | |
| 3 | g.38556557C>A | CA352145481 | SCN5A | c.4318G>T (p.Glu1440Ter) c.4321G>T (p.Glu1441Ter) c.4267G>T (p.Glu1423Ter) c.4159G>T (p.Glu1387Ter) c.4192G>T (p.Glu1398Ter) c.4264G>T (p.Glu1422Ter) | dbSNP |
| 3 | g.38556557C= | CA1358563554 | SCN5A | c.4318G= (p.Glu1440=) c.4321G= (p.Glu1441=) c.4267G= (p.Glu1423=) c.4159G= (p.Glu1387=) c.4192G= (p.Glu1398=) c.4264G= (p.Glu1422=) | |
| 3 | g.38556557C>G | CA018141 | SCN5A | c.4318G>C (p.Glu1440Gln) c.4321G>C (p.Glu1441Gln) c.4267G>C (p.Glu1423Gln) c.4159G>C (p.Glu1387Gln) c.4192G>C (p.Glu1398Gln) c.4264G>C (p.Glu1422Gln) | ClinVar dbSNP |
| 3 | g.38556557C>T | CA352145482 | SCN5A | c.4318G>A (p.Glu1440Lys) c.4321G>A (p.Glu1441Lys) c.4267G>A (p.Glu1423Lys) c.4159G>A (p.Glu1387Lys) c.4192G>A (p.Glu1398Lys) c.4264G>A (p.Glu1422Lys) | |
| 3 | g.38556559dup | CA1358563553 | SCN5A | c.4318dup (p.Glu1440GlyfsTer?) c.4321dup (p.Glu1441GlyfsTer?) c.4267dup (p.Glu1423GlyfsTer?) c.4159dup (p.Glu1387GlyfsTer?) c.4192dup (p.Glu1398GlyfsTer?) c.4264dup (p.Glu1422GlyfsTer?) | dbSNP |
| 3 | g.38556559del | CA906898018 | SCN5A | c.4318del (p.Glu1440AsnfsTer22) c.4321del (p.Glu1441AsnfsTer22) c.4267del (p.Glu1423AsnfsTer22) c.4159del (p.Glu1387AsnfsTer22) c.4192del (p.Glu1398AsnfsTer22) c.4264del (p.Glu1422AsnfsTer22) | dbSNP |
| 3 | g.38556558C>A | CA352145483 | SCN5A | c.4317G>T (p.Trp1439Cys) c.4320G>T (p.Trp1440Cys) c.4266G>T (p.Trp1422Cys) c.4158G>T (p.Trp1386Cys) c.4191G>T (p.Trp1397Cys) c.4263G>T (p.Trp1421Cys) | |
| 3 | g.38556558C= | CA1358563559 | SCN5A | c.4317G= (p.Trp1439=) c.4320G= (p.Trp1440=) c.4266G= (p.Trp1422=) c.4158G= (p.Trp1386=) c.4191G= (p.Trp1397=) c.4263G= (p.Trp1421=) | |
| 3 | g.38556558C>G | CA352145484 | SCN5A | c.4317G>C (p.Trp1439Cys) c.4320G>C (p.Trp1440Cys) c.4266G>C (p.Trp1422Cys) c.4158G>C (p.Trp1386Cys) c.4191G>C (p.Trp1397Cys) c.4263G>C (p.Trp1421Cys) | |
| 3 | g.38556558C>T | CA352145485 | SCN5A | c.4317G>A (p.Trp1439Ter) c.4320G>A (p.Trp1440Ter) c.4266G>A (p.Trp1422Ter) c.4158G>A (p.Trp1386Ter) c.4191G>A (p.Trp1397Ter) c.4263G>A (p.Trp1421Ter) | dbSNP gnomAD v2 |
| 3 | g.38556559C>A | CA352145486 | SCN5A | c.4316G>T (p.Trp1439Leu) c.4319G>T (p.Trp1440Leu) c.4265G>T (p.Trp1422Leu) c.4157G>T (p.Trp1386Leu) c.4190G>T (p.Trp1397Leu) c.4262G>T (p.Trp1421Leu) | |
| 3 | g.38556559C>G | CA352145487 | SCN5A | c.4316G>C (p.Trp1439Ser) c.4319G>C (p.Trp1440Ser) c.4265G>C (p.Trp1422Ser) c.4157G>C (p.Trp1386Ser) c.4190G>C (p.Trp1397Ser) c.4262G>C (p.Trp1421Ser) | |
| 3 | g.38556559C>T | CA352145488 | SCN5A | c.4316G>A (p.Trp1439Ter) c.4319G>A (p.Trp1440Ter) c.4265G>A (p.Trp1422Ter) c.4157G>A (p.Trp1386Ter) c.4190G>A (p.Trp1397Ter) c.4262G>A (p.Trp1421Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556560A= | CA1358563563 | SCN5A | c.4315T= (p.Trp1439=) c.4318T= (p.Trp1440=) c.4264T= (p.Trp1422=) c.4156T= (p.Trp1386=) c.4189T= (p.Trp1397=) c.4261T= (p.Trp1421=) | |
| 3 | g.38556560A>C | CA352145489 | SCN5A | c.4315T>G (p.Trp1439Gly) c.4318T>G (p.Trp1440Gly) c.4264T>G (p.Trp1422Gly) c.4156T>G (p.Trp1386Gly) c.4189T>G (p.Trp1397Gly) c.4261T>G (p.Trp1421Gly) | |
| 3 | g.38556560A>G | CA352145490 | SCN5A | c.4315T>C (p.Trp1439Arg) c.4318T>C (p.Trp1440Arg) c.4264T>C (p.Trp1422Arg) c.4156T>C (p.Trp1386Arg) c.4189T>C (p.Trp1397Arg) c.4261T>C (p.Trp1421Arg) | |
| 3 | g.38556560A>T | CA352145491 | SCN5A | c.4315T>A (p.Trp1439Arg) c.4318T>A (p.Trp1440Arg) c.4264T>A (p.Trp1422Arg) c.4156T>A (p.Trp1386Arg) c.4189T>A (p.Trp1397Arg) c.4261T>A (p.Trp1421Arg) | ClinVar dbSNP |
| 3 | g.38556561C>A | CA352145492 | SCN5A | c.4314G>T (p.Gln1438His) c.4317G>T (p.Gln1439His) c.4263G>T (p.Gln1421His) c.4155G>T (p.Gln1385His) c.4188G>T (p.Gln1396His) c.4260G>T (p.Gln1420His) | |
| 3 | g.38556561C= | CA1358563568 | SCN5A | c.4314G= (p.Gln1438=) c.4317G= (p.Gln1439=) c.4263G= (p.Gln1421=) c.4155G= (p.Gln1385=) c.4188G= (p.Gln1396=) c.4260G= (p.Gln1420=) | |
| 3 | g.38556561C>G | CA063115 | SCN5A | c.4314G>C (p.Gln1438His) c.4317G>C (p.Gln1439His) c.4263G>C (p.Gln1421His) c.4155G>C (p.Gln1385His) c.4188G>C (p.Gln1396His) c.4260G>C (p.Gln1420His) | dbSNP ExAC gnomAD v2 |
| 3 | g.38556561C>T | CA063111 | SCN5A | c.4314G>A (p.Gln1438=) c.4317G>A (p.Gln1439=) c.4263G>A (p.Gln1421=) c.4155G>A (p.Gln1385=) c.4188G>A (p.Gln1396=) c.4260G>A (p.Gln1420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556562T>A | CA352145493 | SCN5A | c.4313A>T (p.Gln1438Leu) c.4316A>T (p.Gln1439Leu) c.4262A>T (p.Gln1421Leu) c.4154A>T (p.Gln1385Leu) c.4187A>T (p.Gln1396Leu) c.4259A>T (p.Gln1420Leu) | |
| 3 | g.38556562T>C | CA352145494 | SCN5A | c.4313A>G (p.Gln1438Arg) c.4316A>G (p.Gln1439Arg) c.4262A>G (p.Gln1421Arg) c.4154A>G (p.Gln1385Arg) c.4187A>G (p.Gln1396Arg) c.4259A>G (p.Gln1420Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556562T>G | CA352145495 | SCN5A | c.4313A>C (p.Gln1438Pro) c.4316A>C (p.Gln1439Pro) c.4262A>C (p.Gln1421Pro) c.4154A>C (p.Gln1385Pro) c.4187A>C (p.Gln1396Pro) c.4259A>C (p.Gln1420Pro) | |
| 3 | g.38556562T= | CA1358563572 | SCN5A | c.4313A= (p.Gln1438=) c.4316A= (p.Gln1439=) c.4262A= (p.Gln1421=) c.4154A= (p.Gln1385=) c.4187A= (p.Gln1396=) c.4259A= (p.Gln1420=) | |
| 3 | g.38556562dup | CA2499216732 | SCN5A | c.4313dup (p.Trp1439ValfsTer?) c.4316dup (p.Trp1440ValfsTer?) c.4262dup (p.Trp1422ValfsTer?) c.4154dup (p.Trp1386ValfsTer?) c.4187dup (p.Trp1397ValfsTer?) c.4259dup (p.Trp1421ValfsTer?) | ClinVar dbSNP |
| 3 | g.38556563G>A | CA352145496 | SCN5A | c.4312C>T (p.Gln1438Ter) c.4315C>T (p.Gln1439Ter) c.4261C>T (p.Gln1421Ter) c.4153C>T (p.Gln1385Ter) c.4186C>T (p.Gln1396Ter) c.4258C>T (p.Gln1420Ter) | dbSNP |
| 3 | g.38556563G>C | CA352145497 | SCN5A | c.4312C>G (p.Gln1438Glu) c.4315C>G (p.Gln1439Glu) c.4261C>G (p.Gln1421Glu) c.4153C>G (p.Gln1385Glu) c.4186C>G (p.Gln1396Glu) c.4258C>G (p.Gln1420Glu) | |
| 3 | g.38556563G= | CA1358563577 | SCN5A | c.4312C= (p.Gln1438=) c.4315C= (p.Gln1439=) c.4261C= (p.Gln1421=) c.4153C= (p.Gln1385=) c.4186C= (p.Gln1396=) c.4258C= (p.Gln1420=) | |
| 3 | g.38556563G>T | CA352145498 | SCN5A | c.4312C>A (p.Gln1438Lys) c.4315C>A (p.Gln1439Lys) c.4261C>A (p.Gln1421Lys) c.4153C>A (p.Gln1385Lys) c.4186C>A (p.Gln1396Lys) c.4258C>A (p.Gln1420Lys) | |
| 3 | g.38556564A>C | CA433136164 | SCN5A | c.4311T>G (p.Pro1437=) c.4314T>G (p.Pro1438=) c.4260T>G (p.Pro1420=) c.4152T>G (p.Pro1384=) c.4185T>G (p.Pro1395=) c.4257T>G (p.Pro1419=) | |
| 3 | g.38556564A>G | CA433136165 | SCN5A | c.4311T>C (p.Pro1437=) c.4314T>C (p.Pro1438=) c.4260T>C (p.Pro1420=) c.4152T>C (p.Pro1384=) c.4185T>C (p.Pro1395=) c.4257T>C (p.Pro1419=) | |
| 3 | g.38556564A>T | CA433136166 | SCN5A | c.4311T>A (p.Pro1437=) c.4314T>A (p.Pro1438=) c.4260T>A (p.Pro1420=) c.4152T>A (p.Pro1384=) c.4185T>A (p.Pro1395=) c.4257T>A (p.Pro1419=) | |
| 3 | g.38556564_38556565delinsAG | CA1358563580 | SCN5A | c.4310_4311delinsCT (p.Pro1437=) c.4313_4314delinsCT (p.Pro1438=) c.4259_4260delinsCT (p.Pro1420=) c.4151_4152delinsCT (p.Pro1384=) c.4184_4185delinsCT (p.Pro1395=) c.4256_4257delinsCT (p.Pro1419=) | |
| 3 | g.38556565G>A | CA018135 | SCN5A | c.4310C>T (p.Pro1437Leu) c.4313C>T (p.Pro1438Leu) c.4259C>T (p.Pro1420Leu) c.4151C>T (p.Pro1384Leu) c.4184C>T (p.Pro1395Leu) c.4256C>T (p.Pro1419Leu) | ClinVar dbSNP |
| 3 | g.38556565G>C | CA352145499 | SCN5A | c.4310C>G (p.Pro1437Arg) c.4313C>G (p.Pro1438Arg) c.4259C>G (p.Pro1420Arg) c.4151C>G (p.Pro1384Arg) c.4184C>G (p.Pro1395Arg) c.4256C>G (p.Pro1419Arg) | |
| 3 | g.38556565G= | CA1358563586 | SCN5A | c.4310C= (p.Pro1437=) c.4313C= (p.Pro1438=) c.4259C= (p.Pro1420=) c.4151C= (p.Pro1384=) c.4184C= (p.Pro1395=) c.4256C= (p.Pro1419=) | |
| 3 | g.38556565G>T | CA352145500 | SCN5A | c.4310C>A (p.Pro1437His) c.4313C>A (p.Pro1438His) c.4259C>A (p.Pro1420His) c.4151C>A (p.Pro1384His) c.4184C>A (p.Pro1395His) c.4256C>A (p.Pro1419His) | |
| 3 | g.38556566del | CA72943359 | SCN5A | c.4310del (p.Pro1437LeufsTer25) c.4313del (p.Pro1438LeufsTer25) c.4259del (p.Pro1420LeufsTer25) c.4151del (p.Pro1384LeufsTer25) c.4184del (p.Pro1395LeufsTer25) c.4256del (p.Pro1419LeufsTer25) | dbSNP |
| 3 | g.38556566G>A | CA352145501 | SCN5A | c.4309C>T (p.Pro1437Ser) c.4312C>T (p.Pro1438Ser) c.4258C>T (p.Pro1420Ser) c.4150C>T (p.Pro1384Ser) c.4183C>T (p.Pro1395Ser) c.4255C>T (p.Pro1419Ser) | ClinVar dbSNP |
| 3 | g.38556566G>C | CA352145502 | SCN5A | c.4309C>G (p.Pro1437Ala) c.4312C>G (p.Pro1438Ala) c.4258C>G (p.Pro1420Ala) c.4150C>G (p.Pro1384Ala) c.4183C>G (p.Pro1395Ala) c.4255C>G (p.Pro1419Ala) | |
| 3 | g.38556566G= | CA1358563590 | SCN5A | c.4309C= (p.Pro1437=) c.4312C= (p.Pro1438=) c.4258C= (p.Pro1420=) c.4150C= (p.Pro1384=) c.4183C= (p.Pro1395=) c.4255C= (p.Pro1419=) | |
| 3 | g.38556566G>T | CA352145503 | SCN5A | c.4309C>A (p.Pro1437Thr) c.4312C>A (p.Pro1438Thr) c.4258C>A (p.Pro1420Thr) c.4150C>A (p.Pro1384Thr) c.4183C>A (p.Pro1395Thr) c.4255C>A (p.Pro1419Thr) | |
| 3 | g.38556567C>A | CA352145505 | SCN5A | c.4308G>T (p.Gln1436His) c.4311G>T (p.Gln1437His) c.4257G>T (p.Gln1419His) c.4149G>T (p.Gln1383His) c.4182G>T (p.Gln1394His) c.4254G>T (p.Gln1418His) | |
| 3 | g.38556567C= | CA1358563594 | SCN5A | c.4308G= (p.Gln1436=) c.4311G= (p.Gln1437=) c.4257G= (p.Gln1419=) c.4149G= (p.Gln1383=) c.4182G= (p.Gln1394=) c.4254G= (p.Gln1418=) | |
| 3 | g.38556567C>G | CA352145504 | SCN5A | c.4308G>C (p.Gln1436His) c.4311G>C (p.Gln1437His) c.4257G>C (p.Gln1419His) c.4149G>C (p.Gln1383His) c.4182G>C (p.Gln1394His) c.4254G>C (p.Gln1418His) | |
| 3 | g.38556567C>T | CA433136169 | SCN5A | c.4308G>A (p.Gln1436=) c.4311G>A (p.Gln1437=) c.4257G>A (p.Gln1419=) c.4149G>A (p.Gln1383=) c.4182G>A (p.Gln1394=) c.4254G>A (p.Gln1418=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556568T>A | CA352145506 | SCN5A | c.4307A>T (p.Gln1436Leu) c.4310A>T (p.Gln1437Leu) c.4256A>T (p.Gln1419Leu) c.4148A>T (p.Gln1383Leu) c.4181A>T (p.Gln1394Leu) c.4253A>T (p.Gln1418Leu) | |
| 3 | g.38556568T>C | CA352145508 | SCN5A | c.4307A>G (p.Gln1436Arg) c.4310A>G (p.Gln1437Arg) c.4256A>G (p.Gln1419Arg) c.4148A>G (p.Gln1383Arg) c.4181A>G (p.Gln1394Arg) c.4253A>G (p.Gln1418Arg) | |
| 3 | g.38556568T>G | CA352145507 | SCN5A | c.4307A>C (p.Gln1436Pro) c.4310A>C (p.Gln1437Pro) c.4256A>C (p.Gln1419Pro) c.4148A>C (p.Gln1383Pro) c.4181A>C (p.Gln1394Pro) c.4253A>C (p.Gln1418Pro) | |
| 3 | g.38556569G>A | CA352145509 | SCN5A | c.4306C>T (p.Gln1436Ter) c.4309C>T (p.Gln1437Ter) c.4255C>T (p.Gln1419Ter) c.4147C>T (p.Gln1383Ter) c.4180C>T (p.Gln1394Ter) c.4252C>T (p.Gln1418Ter) | |
| 3 | g.38556569G>C | CA352145510 | SCN5A | c.4306C>G (p.Gln1436Glu) c.4309C>G (p.Gln1437Glu) c.4255C>G (p.Gln1419Glu) c.4147C>G (p.Gln1383Glu) c.4180C>G (p.Gln1394Glu) c.4252C>G (p.Gln1418Glu) | ClinVar dbSNP |
| 3 | g.38556569G= | CA1358563600 | SCN5A | c.4306C= (p.Gln1436=) c.4309C= (p.Gln1437=) c.4255C= (p.Gln1419=) c.4147C= (p.Gln1383=) c.4180C= (p.Gln1394=) c.4252C= (p.Gln1418=) | |
| 3 | g.38556569G>T | CA352145511 | SCN5A | c.4306C>A (p.Gln1436Lys) c.4309C>A (p.Gln1437Lys) c.4255C>A (p.Gln1419Lys) c.4147C>A (p.Gln1383Lys) c.4180C>A (p.Gln1394Lys) c.4252C>A (p.Gln1418Lys) | |
| 3 | g.38556570C>A | CA352145512 | SCN5A | c.4305G>T (p.Glu1435Asp) c.4308G>T (p.Glu1436Asp) c.4254G>T (p.Glu1418Asp) c.4146G>T (p.Glu1382Asp) c.4179G>T (p.Glu1393Asp) c.4251G>T (p.Glu1417Asp) | |
| 3 | g.38556570C= | CA1358563608 | SCN5A | c.4305G= (p.Glu1435=) c.4308G= (p.Glu1436=) c.4254G= (p.Glu1418=) c.4146G= (p.Glu1382=) c.4179G= (p.Glu1393=) c.4251G= (p.Glu1417=) | |
| 3 | g.38556570C>G | CA352145513 | SCN5A | c.4305G>C (p.Glu1435Asp) c.4308G>C (p.Glu1436Asp) c.4254G>C (p.Glu1418Asp) c.4146G>C (p.Glu1382Asp) c.4179G>C (p.Glu1393Asp) c.4251G>C (p.Glu1417Asp) | |
| 3 | g.38556570C>T | CA063106 | SCN5A | c.4305G>A (p.Glu1435=) c.4308G>A (p.Glu1436=) c.4254G>A (p.Glu1418=) c.4146G>A (p.Glu1382=) c.4179G>A (p.Glu1393=) c.4251G>A (p.Glu1417=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556571T>A | CA352145514 | SCN5A | c.4304A>T (p.Glu1435Val) c.4307A>T (p.Glu1436Val) c.4253A>T (p.Glu1418Val) c.4145A>T (p.Glu1382Val) c.4178A>T (p.Glu1393Val) c.4250A>T (p.Glu1417Val) | |
| 3 | g.38556571T>C | CA352145515 | SCN5A | c.4304A>G (p.Glu1435Gly) c.4307A>G (p.Glu1436Gly) c.4253A>G (p.Glu1418Gly) c.4145A>G (p.Glu1382Gly) c.4178A>G (p.Glu1393Gly) c.4250A>G (p.Glu1417Gly) | |
| 3 | g.38556571T>G | CA352145516 | SCN5A | c.4304A>C (p.Glu1435Ala) c.4307A>C (p.Glu1436Ala) c.4253A>C (p.Glu1418Ala) c.4145A>C (p.Glu1382Ala) c.4178A>C (p.Glu1393Ala) c.4250A>C (p.Glu1417Ala) | |
| 3 | g.38556572C>A | CA352145517 | SCN5A | c.4303G>T (p.Glu1435Ter) c.4306G>T (p.Glu1436Ter) c.4252G>T (p.Glu1418Ter) c.4144G>T (p.Glu1382Ter) c.4177G>T (p.Glu1393Ter) c.4249G>T (p.Glu1417Ter) | dbSNP |
| 3 | g.38556572C= | CA1358563614 | SCN5A | c.4303G= (p.Glu1435=) c.4306G= (p.Glu1436=) c.4252G= (p.Glu1418=) c.4144G= (p.Glu1382=) c.4177G= (p.Glu1393=) c.4249G= (p.Glu1417=) | |
| 3 | g.38556572C>G | CA352145518 | SCN5A | c.4303G>C (p.Glu1435Gln) c.4306G>C (p.Glu1436Gln) c.4252G>C (p.Glu1418Gln) c.4144G>C (p.Glu1382Gln) c.4177G>C (p.Glu1393Gln) c.4249G>C (p.Glu1417Gln) | |
| 3 | g.38556572C>T | CA352145519 | SCN5A | c.4303G>A (p.Glu1435Lys) c.4306G>A (p.Glu1436Lys) c.4252G>A (p.Glu1418Lys) c.4144G>A (p.Glu1382Lys) c.4177G>A (p.Glu1393Lys) c.4249G>A (p.Glu1417Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556573T>A | CA352145521 | SCN5A | c.4302A>T (p.Glu1434Asp) c.4305A>T (p.Glu1435Asp) c.4251A>T (p.Glu1417Asp) c.4143A>T (p.Glu1381Asp) c.4176A>T (p.Glu1392Asp) c.4248A>T (p.Glu1416Asp) | |
| 3 | g.38556573T>C | CA433136172 | SCN5A | c.4302A>G (p.Glu1434=) c.4305A>G (p.Glu1435=) c.4251A>G (p.Glu1417=) c.4143A>G (p.Glu1381=) c.4176A>G (p.Glu1392=) c.4248A>G (p.Glu1416=) | |
| 3 | g.38556573T>G | CA352145520 | SCN5A | c.4302A>C (p.Glu1434Asp) c.4305A>C (p.Glu1435Asp) c.4251A>C (p.Glu1417Asp) c.4143A>C (p.Glu1381Asp) c.4176A>C (p.Glu1392Asp) c.4248A>C (p.Glu1416Asp) | |
| 3 | g.38556574T>A | CA352145522 | SCN5A | c.4301A>T (p.Glu1434Val) c.4304A>T (p.Glu1435Val) c.4250A>T (p.Glu1417Val) c.4142A>T (p.Glu1381Val) c.4175A>T (p.Glu1392Val) c.4247A>T (p.Glu1416Val) | |
| 3 | g.38556574T>C | CA352145523 | SCN5A | c.4301A>G (p.Glu1434Gly) c.4304A>G (p.Glu1435Gly) c.4250A>G (p.Glu1417Gly) c.4142A>G (p.Glu1381Gly) c.4175A>G (p.Glu1392Gly) c.4247A>G (p.Glu1416Gly) | |
| 3 | g.38556574T>G | CA352145524 | SCN5A | c.4301A>C (p.Glu1434Ala) c.4304A>C (p.Glu1435Ala) c.4250A>C (p.Glu1417Ala) c.4142A>C (p.Glu1381Ala) c.4175A>C (p.Glu1392Ala) c.4247A>C (p.Glu1416Ala) | |
| 3 | g.38556575C>A | CA352145525 | SCN5A | c.4300G>T (p.Glu1434Ter) c.4303G>T (p.Glu1435Ter) c.4249G>T (p.Glu1417Ter) c.4141G>T (p.Glu1381Ter) c.4174G>T (p.Glu1392Ter) c.4246G>T (p.Glu1416Ter) | dbSNP |
| 3 | g.38556575C= | CA1358563619 | SCN5A | c.4300G= (p.Glu1434=) c.4303G= (p.Glu1435=) c.4249G= (p.Glu1417=) c.4141G= (p.Glu1381=) c.4174G= (p.Glu1392=) c.4246G= (p.Glu1416=) | |
| 3 | g.38556575C>G | CA352145526 | SCN5A | c.4300G>C (p.Glu1434Gln) c.4303G>C (p.Glu1435Gln) c.4249G>C (p.Glu1417Gln) c.4141G>C (p.Glu1381Gln) c.4174G>C (p.Glu1392Gln) c.4246G>C (p.Glu1416Gln) | |
| 3 | g.38556575C>T | CA352145527 | SCN5A | c.4300G>A (p.Glu1434Lys) c.4303G>A (p.Glu1435Lys) c.4249G>A (p.Glu1417Lys) c.4141G>A (p.Glu1381Lys) c.4174G>A (p.Glu1392Lys) c.4246G>A (p.Glu1416Lys) | |
| 3 | g.38556576A= | CA1358563622 | SCN5A | c.4299T= (p.Tyr1433=) c.4302T= (p.Tyr1434=) c.4248T= (p.Tyr1416=) c.4140T= (p.Tyr1380=) c.4173T= (p.Tyr1391=) c.4245T= (p.Tyr1415=) | |
| 3 | g.38556576A>C | CA352145528 | SCN5A | c.4299T>G (p.Tyr1433Ter) c.4302T>G (p.Tyr1434Ter) c.4248T>G (p.Tyr1416Ter) c.4140T>G (p.Tyr1380Ter) c.4173T>G (p.Tyr1391Ter) c.4245T>G (p.Tyr1415Ter) | |
| 3 | g.38556576A>G | CA018122 | SCN5A | c.4299T>C (p.Tyr1433=) c.4302T>C (p.Tyr1434=) c.4248T>C (p.Tyr1416=) c.4140T>C (p.Tyr1380=) c.4173T>C (p.Tyr1391=) c.4245T>C (p.Tyr1415=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556576A>T | CA352145529 | SCN5A | c.4299T>A (p.Tyr1433Ter) c.4302T>A (p.Tyr1434Ter) c.4248T>A (p.Tyr1416Ter) c.4140T>A (p.Tyr1380Ter) c.4173T>A (p.Tyr1391Ter) c.4245T>A (p.Tyr1415Ter) | |
| 3 | g.38556577T>A | CA352145530 | SCN5A | c.4298A>T (p.Tyr1433Phe) c.4301A>T (p.Tyr1434Phe) c.4247A>T (p.Tyr1416Phe) c.4139A>T (p.Tyr1380Phe) c.4172A>T (p.Tyr1391Phe) c.4244A>T (p.Tyr1415Phe) | |
| 3 | g.38556577T>C | CA352145531 | SCN5A | c.4298A>G (p.Tyr1433Cys) c.4301A>G (p.Tyr1434Cys) c.4247A>G (p.Tyr1416Cys) c.4139A>G (p.Tyr1380Cys) c.4172A>G (p.Tyr1391Cys) c.4244A>G (p.Tyr1415Cys) | |
| 3 | g.38556577T>G | CA352145532 | SCN5A | c.4298A>C (p.Tyr1433Ser) c.4301A>C (p.Tyr1434Ser) c.4247A>C (p.Tyr1416Ser) c.4139A>C (p.Tyr1380Ser) c.4172A>C (p.Tyr1391Ser) c.4244A>C (p.Tyr1415Ser) | |
| 3 | g.38556578A= | CA1358563627 | SCN5A | c.4297T= (p.Tyr1433=) c.4300T= (p.Tyr1434=) c.4246T= (p.Tyr1416=) c.4138T= (p.Tyr1380=) c.4171T= (p.Tyr1391=) c.4243T= (p.Tyr1415=) | |
| 3 | g.38556578A>C | CA72943370 | SCN5A | c.4297T>G (p.Tyr1433Asp) c.4300T>G (p.Tyr1434Asp) c.4246T>G (p.Tyr1416Asp) c.4138T>G (p.Tyr1380Asp) c.4171T>G (p.Tyr1391Asp) c.4243T>G (p.Tyr1415Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556578A>G | CA352145534 | SCN5A | c.4297T>C (p.Tyr1433His) c.4300T>C (p.Tyr1434His) c.4246T>C (p.Tyr1416His) c.4138T>C (p.Tyr1380His) c.4171T>C (p.Tyr1391His) c.4243T>C (p.Tyr1415His) | |
| 3 | g.38556578A>T | CA352145533 | SCN5A | c.4297T>A (p.Tyr1433Asn) c.4300T>A (p.Tyr1434Asn) c.4246T>A (p.Tyr1416Asn) c.4138T>A (p.Tyr1380Asn) c.4171T>A (p.Tyr1391Asn) c.4243T>A (p.Tyr1415Asn) | |
| 3 | g.38556579C>A | CA063079 | SCN5A | c.4297-1G>T (n.4297-1G>T) c.4300-1G>T (n.4300-1G>T) c.4246-1G>T (n.4246-1G>T) c.4138-1G>T (n.4138-1G>T) c.4171-1G>T (n.4171-1G>T) c.4243-1G>T (n.4243-1G>T) | dbSNP ExAC |
| 3 | g.38556579C= | CA1358563632 | SCN5A | c.4297-1G= (n.4297-1G=) c.4300-1G= (n.4300-1G=) c.4246-1G= (n.4246-1G=) c.4138-1G= (n.4138-1G=) c.4171-1G= (n.4171-1G=) c.4243-1G= (n.4243-1G=) | |
| 3 | g.38556579C>G | CA352145535 | SCN5A | c.4297-1G>C (n.4297-1G>C) c.4300-1G>C (n.4300-1G>C) c.4246-1G>C (n.4246-1G>C) c.4138-1G>C (n.4138-1G>C) c.4171-1G>C (n.4171-1G>C) c.4243-1G>C (n.4243-1G>C) | |
| 3 | g.38556579C>T | CA352145536 | SCN5A | c.4297-1G>A (n.4297-1G>A) c.4300-1G>A (n.4300-1G>A) c.4246-1G>A (n.4246-1G>A) c.4138-1G>A (n.4138-1G>A) c.4171-1G>A (n.4171-1G>A) c.4243-1G>A (n.4243-1G>A) | ClinVar gnomAD v4 |
| 3 | g.38556579_38556580insCCCCTGGAGTCCACAGCTGCATACATAATGTCCATCCAGCCTTTAAATGTTGCCACCTGCAGAAGGGCCAGGTACCCGGCCCCCACGTTGTCAAAGT | CA2665110975 | SCN5A | c.4297-2_4297-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4297-2_4297-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG) c.4300-2_4300-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4300-2_4300-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG) c.4246-2_4246-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4246-2_4246-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG) c.4138-2_4138-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4138-2_4138-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG) c.4171-2_4171-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4171-2_4171-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG) c.4243-2_4243-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4243-2_4243-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG) | gnomAD v4 |
| 3 | g.38556580T>A | CA352145537 | SCN5A | c.4297-2A>T (n.4297-2A>T) c.4300-2A>T (n.4300-2A>T) c.4246-2A>T (n.4246-2A>T) c.4138-2A>T (n.4138-2A>T) c.4171-2A>T (n.4171-2A>T) c.4243-2A>T (n.4243-2A>T) | |
| 3 | g.38556580T>C | CA352145538 | SCN5A | c.4297-2A>G (n.4297-2A>G) c.4300-2A>G (n.4300-2A>G) c.4246-2A>G (n.4246-2A>G) c.4138-2A>G (n.4138-2A>G) c.4171-2A>G (n.4171-2A>G) c.4243-2A>G (n.4243-2A>G) | dbSNP |
| 3 | g.38556580T>G | CA352145539 | SCN5A | c.4297-2A>C (n.4297-2A>C) c.4300-2A>C (n.4300-2A>C) c.4246-2A>C (n.4246-2A>C) c.4138-2A>C (n.4138-2A>C) c.4171-2A>C (n.4171-2A>C) c.4243-2A>C (n.4243-2A>C) | gnomAD v4 |
| 3 | g.38556580T= | CA1358563636 | SCN5A | c.4297-2A= (n.4297-2A=) c.4300-2A= (n.4300-2A=) c.4246-2A= (n.4246-2A=) c.4138-2A= (n.4138-2A=) c.4171-2A= (n.4171-2A=) c.4243-2A= (n.4243-2A=) | |
| 3 | g.38556581G>A | CA1046992838 | SCN5A | c.4297-3C>T (n.4297-3C>T) c.4300-3C>T (n.4300-3C>T) c.4246-3C>T (n.4246-3C>T) c.4138-3C>T (n.4138-3C>T) c.4171-3C>T (n.4171-3C>T) c.4243-3C>T (n.4243-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556581G= | CA1358563639 | SCN5A | c.4297-3C= (n.4297-3C=) c.4300-3C= (n.4300-3C=) c.4246-3C= (n.4246-3C=) c.4138-3C= (n.4138-3C=) c.4171-3C= (n.4171-3C=) c.4243-3C= (n.4243-3C=) | |
| 3 | g.38556581G>T | CA2665110976 | SCN5A | c.4297-3C>A (n.4297-3C>A) c.4300-3C>A (n.4300-3C>A) c.4246-3C>A (n.4246-3C>A) c.4138-3C>A (n.4138-3C>A) c.4171-3C>A (n.4171-3C>A) c.4243-3C>A (n.4243-3C>A) | gnomAD v4 |
| 3 | g.38556582C>A | CA2665110977 | SCN5A | c.4297-4G>T (n.4297-4G>T) c.4300-4G>T (n.4300-4G>T) c.4246-4G>T (n.4246-4G>T) c.4138-4G>T (n.4138-4G>T) c.4171-4G>T (n.4171-4G>T) c.4243-4G>T (n.4243-4G>T) | gnomAD v4 |
| 3 | g.38556583A= | CA1358563641 | SCN5A | c.4297-5T= (n.4297-5T=) c.4300-5T= (n.4300-5T=) c.4246-5T= (n.4246-5T=) c.4138-5T= (n.4138-5T=) c.4171-5T= (n.4171-5T=) c.4243-5T= (n.4243-5T=) | |
| 3 | g.38556583A>G | CA542270107 | SCN5A | c.4297-5T>C (n.4297-5T>C) c.4300-5T>C (n.4300-5T>C) c.4246-5T>C (n.4246-5T>C) c.4138-5T>C (n.4138-5T>C) c.4171-5T>C (n.4171-5T>C) c.4243-5T>C (n.4243-5T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556586G>A | CA72943374 | SCN5A | c.4297-8C>T (n.4297-8C>T) c.4300-8C>T (n.4300-8C>T) c.4246-8C>T (n.4246-8C>T) c.4138-8C>T (n.4138-8C>T) c.4171-8C>T (n.4171-8C>T) c.4243-8C>T (n.4243-8C>T) | dbSNP |
| 3 | g.38556586G= | CA1358563643 | SCN5A | c.4297-8C= (n.4297-8C=) c.4300-8C= (n.4300-8C=) c.4246-8C= (n.4246-8C=) c.4138-8C= (n.4138-8C=) c.4171-8C= (n.4171-8C=) c.4243-8C= (n.4243-8C=) | |
| 3 | g.38556587G>A | CA542270108 | SCN5A | c.4297-9C>T (n.4297-9C>T) c.4300-9C>T (n.4300-9C>T) c.4246-9C>T (n.4246-9C>T) c.4138-9C>T (n.4138-9C>T) c.4171-9C>T (n.4171-9C>T) c.4243-9C>T (n.4243-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556587G>C | CA913188104 | SCN5A | c.4297-9C>G (n.4297-9C>G) c.4300-9C>G (n.4300-9C>G) c.4246-9C>G (n.4246-9C>G) c.4138-9C>G (n.4138-9C>G) c.4171-9C>G (n.4171-9C>G) c.4243-9C>G (n.4243-9C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556587G= | CA1358563649 | SCN5A | c.4297-9C= (n.4297-9C=) c.4300-9C= (n.4300-9C=) c.4246-9C= (n.4246-9C=) c.4138-9C= (n.4138-9C=) c.4171-9C= (n.4171-9C=) c.4243-9C= (n.4243-9C=) | |
| 3 | g.38556589G>A | CA2665110978 | SCN5A | c.4297-11C>T (n.4297-11C>T) c.4300-11C>T (n.4300-11C>T) c.4246-11C>T (n.4246-11C>T) c.4138-11C>T (n.4138-11C>T) c.4171-11C>T (n.4171-11C>T) c.4243-11C>T (n.4243-11C>T) | gnomAD v4 |
| 3 | g.38556589G>C | CA913188106 | SCN5A | c.4297-11C>G (n.4297-11C>G) c.4300-11C>G (n.4300-11C>G) c.4246-11C>G (n.4246-11C>G) c.4138-11C>G (n.4138-11C>G) c.4171-11C>G (n.4171-11C>G) c.4243-11C>G (n.4243-11C>G) | ClinVar dbSNP |
| 3 | g.38556589G= | CA1358563654 | SCN5A | c.4297-11C= (n.4297-11C=) c.4300-11C= (n.4300-11C=) c.4246-11C= (n.4246-11C=) c.4138-11C= (n.4138-11C=) c.4171-11C= (n.4171-11C=) c.4243-11C= (n.4243-11C=) | |
| 3 | g.38556589G>T | CA2577553019 | SCN5A | c.4297-11C>A (n.4297-11C>A) c.4300-11C>A (n.4300-11C>A) c.4246-11C>A (n.4246-11C>A) c.4138-11C>A (n.4138-11C>A) c.4171-11C>A (n.4171-11C>A) c.4243-11C>A (n.4243-11C>A) | ClinVar gnomAD v4 |
| 3 | g.38556591A= | CA1358563657 | SCN5A | c.4297-13T= (n.4297-13T=) c.4300-13T= (n.4300-13T=) c.4246-13T= (n.4246-13T=) c.4138-13T= (n.4138-13T=) c.4171-13T= (n.4171-13T=) c.4243-13T= (n.4243-13T=) | |
| 3 | g.38556591A>G | CA063070 | SCN5A | c.4297-13T>C (n.4297-13T>C) c.4300-13T>C (n.4300-13T>C) c.4246-13T>C (n.4246-13T>C) c.4138-13T>C (n.4138-13T>C) c.4171-13T>C (n.4171-13T>C) c.4243-13T>C (n.4243-13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38556592A= | CA1358563663 | SCN5A | c.4297-14T= (n.4297-14T=) c.4300-14T= (n.4300-14T=) c.4246-14T= (n.4246-14T=) c.4138-14T= (n.4138-14T=) c.4171-14T= (n.4171-14T=) c.4243-14T= (n.4243-14T=) | |
| 3 | g.38556592A>G | CA018116 | SCN5A | c.4297-14T>C (n.4297-14T>C) c.4300-14T>C (n.4300-14T>C) c.4246-14T>C (n.4246-14T>C) c.4138-14T>C (n.4138-14T>C) c.4171-14T>C (n.4171-14T>C) c.4243-14T>C (n.4243-14T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556593T>C | CA2665110979 | SCN5A | c.4297-15A>G (n.4297-15A>G) c.4300-15A>G (n.4300-15A>G) c.4246-15A>G (n.4246-15A>G) c.4138-15A>G (n.4138-15A>G) c.4171-15A>G (n.4171-15A>G) c.4243-15A>G (n.4243-15A>G) | gnomAD v4 |
| 3 | g.38556595A>C | CA2665110980 | SCN5A | c.4297-17T>G (n.4297-17T>G) c.4300-17T>G (n.4300-17T>G) c.4246-17T>G (n.4246-17T>G) c.4138-17T>G (n.4138-17T>G) c.4171-17T>G (n.4171-17T>G) c.4243-17T>G (n.4243-17T>G) | gnomAD v4 |
| 3 | g.38556597A>G | CA2577553024 | SCN5A | c.4297-19T>C (n.4297-19T>C) c.4300-19T>C (n.4300-19T>C) c.4246-19T>C (n.4246-19T>C) c.4138-19T>C (n.4138-19T>C) c.4171-19T>C (n.4171-19T>C) c.4243-19T>C (n.4243-19T>C) | |
| 3 | g.38556598C>A | CA2665110981 | SCN5A | c.4297-20G>T (n.4297-20G>T) c.4300-20G>T (n.4300-20G>T) c.4246-20G>T (n.4246-20G>T) c.4138-20G>T (n.4138-20G>T) c.4171-20G>T (n.4171-20G>T) c.4243-20G>T (n.4243-20G>T) | gnomAD v4 |
| 3 | g.38556598C= | CA1358563665 | SCN5A | c.4297-20G= (n.4297-20G=) c.4300-20G= (n.4300-20G=) c.4246-20G= (n.4246-20G=) c.4138-20G= (n.4138-20G=) c.4171-20G= (n.4171-20G=) c.4243-20G= (n.4243-20G=) | |
| 3 | g.38556598C>G | CA2665110982 | SCN5A | c.4297-20G>C (n.4297-20G>C) c.4300-20G>C (n.4300-20G>C) c.4246-20G>C (n.4246-20G>C) c.4138-20G>C (n.4138-20G>C) c.4171-20G>C (n.4171-20G>C) c.4243-20G>C (n.4243-20G>C) | gnomAD v4 |
| 3 | g.38556598C>T | CA72943392 | SCN5A | c.4297-20G>A (n.4297-20G>A) c.4300-20G>A (n.4300-20G>A) c.4246-20G>A (n.4246-20G>A) c.4138-20G>A (n.4138-20G>A) c.4171-20G>A (n.4171-20G>A) c.4243-20G>A (n.4243-20G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556598_38556602delinsCAGGG | CA1358563667 | SCN5A | c.4297-24_4297-20delinsCCCTG (n.4297-24_4297-20delinsCCCTG) c.4300-24_4300-20delinsCCCTG (n.4300-24_4300-20delinsCCCTG) c.4246-24_4246-20delinsCCCTG (n.4246-24_4246-20delinsCCCTG) c.4138-24_4138-20delinsCCCTG (n.4138-24_4138-20delinsCCCTG) c.4171-24_4171-20delinsCCCTG (n.4171-24_4171-20delinsCCCTG) c.4243-24_4243-20delinsCCCTG (n.4243-24_4243-20delinsCCCTG) | |
| 3 | g.38556599A>G | CA2665110983 | SCN5A | c.4297-21T>C (n.4297-21T>C) c.4300-21T>C (n.4300-21T>C) c.4246-21T>C (n.4246-21T>C) c.4138-21T>C (n.4138-21T>C) c.4171-21T>C (n.4171-21T>C) c.4243-21T>C (n.4243-21T>C) | gnomAD v4 |
| 3 | g.38556599A>T | CA2665110984 | SCN5A | c.4297-21T>A (n.4297-21T>A) c.4300-21T>A (n.4300-21T>A) c.4246-21T>A (n.4246-21T>A) c.4138-21T>A (n.4138-21T>A) c.4171-21T>A (n.4171-21T>A) c.4243-21T>A (n.4243-21T>A) | gnomAD v4 |
| 3 | g.38556601_38556604del | CA542270109 | SCN5A | c.4297-24_4297-21del (n.4297-24_4297-21del) c.4300-24_4300-21del (n.4300-24_4300-21del) c.4246-24_4246-21del (n.4246-24_4246-21del) c.4138-24_4138-21del (n.4138-24_4138-21del) c.4171-24_4171-21del (n.4171-24_4171-21del) c.4243-24_4243-21del (n.4243-24_4243-21del) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556600G>C | CA2665110985 | SCN5A | c.4297-22C>G (n.4297-22C>G) c.4300-22C>G (n.4300-22C>G) c.4246-22C>G (n.4246-22C>G) c.4138-22C>G (n.4138-22C>G) c.4171-22C>G (n.4171-22C>G) c.4243-22C>G (n.4243-22C>G) | gnomAD v4 |
| 3 | g.38556600G>T | CA2665110986 | SCN5A | c.4297-22C>A (n.4297-22C>A) c.4300-22C>A (n.4300-22C>A) c.4246-22C>A (n.4246-22C>A) c.4138-22C>A (n.4138-22C>A) c.4171-22C>A (n.4171-22C>A) c.4243-22C>A (n.4243-22C>A) | gnomAD v4 |
| 3 | g.38556602G>A | CA2665110987 | SCN5A | c.4297-24C>T (n.4297-24C>T) c.4300-24C>T (n.4300-24C>T) c.4246-24C>T (n.4246-24C>T) c.4138-24C>T (n.4138-24C>T) c.4171-24C>T (n.4171-24C>T) c.4243-24C>T (n.4243-24C>T) | gnomAD v4 |
| 3 | g.38556602G= | CA1358563670 | SCN5A | c.4297-24C= (n.4297-24C=) c.4300-24C= (n.4300-24C=) c.4246-24C= (n.4246-24C=) c.4138-24C= (n.4138-24C=) c.4171-24C= (n.4171-24C=) c.4243-24C= (n.4243-24C=) | |
| 3 | g.38556602G>T | CA906898089 | SCN5A | c.4297-24C>A (n.4297-24C>A) c.4300-24C>A (n.4300-24C>A) c.4246-24C>A (n.4246-24C>A) c.4138-24C>A (n.4138-24C>A) c.4171-24C>A (n.4171-24C>A) c.4243-24C>A (n.4243-24C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556603A= | CA1358563672 | SCN5A | c.4297-25T= (n.4297-25T=) c.4300-25T= (n.4300-25T=) c.4246-25T= (n.4246-25T=) c.4138-25T= (n.4138-25T=) c.4171-25T= (n.4171-25T=) c.4243-25T= (n.4243-25T=) | |
| 3 | g.38556603A>C | CA1358563673 | SCN5A | c.4297-25T>G (n.4297-25T>G) c.4300-25T>G (n.4300-25T>G) c.4246-25T>G (n.4246-25T>G) c.4138-25T>G (n.4138-25T>G) c.4171-25T>G (n.4171-25T>G) c.4243-25T>G (n.4243-25T>G) | dbSNP gnomAD v4 |
| 3 | g.38556603A>G | CA2665110988 | SCN5A | c.4297-25T>C (n.4297-25T>C) c.4300-25T>C (n.4300-25T>C) c.4246-25T>C (n.4246-25T>C) c.4138-25T>C (n.4138-25T>C) c.4171-25T>C (n.4171-25T>C) c.4243-25T>C (n.4243-25T>C) | gnomAD v4 |
| 3 | g.38556603A>T | CA2665110989 | SCN5A | c.4297-25T>A (n.4297-25T>A) c.4300-25T>A (n.4300-25T>A) c.4246-25T>A (n.4246-25T>A) c.4138-25T>A (n.4138-25T>A) c.4171-25T>A (n.4171-25T>A) c.4243-25T>A (n.4243-25T>A) | gnomAD v4 |
| 3 | g.38556604G>A | CA2665110990 | SCN5A | c.4297-26C>T (n.4297-26C>T) c.4300-26C>T (n.4300-26C>T) c.4246-26C>T (n.4246-26C>T) c.4138-26C>T (n.4138-26C>T) c.4171-26C>T (n.4171-26C>T) c.4243-26C>T (n.4243-26C>T) | gnomAD v4 |
| 3 | g.38556604G>T | CA2665110991 | SCN5A | c.4297-26C>A (n.4297-26C>A) c.4300-26C>A (n.4300-26C>A) c.4246-26C>A (n.4246-26C>A) c.4138-26C>A (n.4138-26C>A) c.4171-26C>A (n.4171-26C>A) c.4243-26C>A (n.4243-26C>A) | gnomAD v4 |
| 3 | g.38556605A>T | CA2665110992 | SCN5A | c.4297-27T>A (n.4297-27T>A) c.4300-27T>A (n.4300-27T>A) c.4246-27T>A (n.4246-27T>A) c.4138-27T>A (n.4138-27T>A) c.4171-27T>A (n.4171-27T>A) c.4243-27T>A (n.4243-27T>A) | gnomAD v4 |
| 3 | g.38556606T>C | CA2665110993 | SCN5A | c.4297-28A>G (n.4297-28A>G) c.4300-28A>G (n.4300-28A>G) c.4246-28A>G (n.4246-28A>G) c.4138-28A>G (n.4138-28A>G) c.4171-28A>G (n.4171-28A>G) c.4243-28A>G (n.4243-28A>G) | gnomAD v4 |
| 3 | g.38556607C>A | CA2665110994 | SCN5A | c.4297-29G>T (n.4297-29G>T) c.4300-29G>T (n.4300-29G>T) c.4246-29G>T (n.4246-29G>T) c.4138-29G>T (n.4138-29G>T) c.4171-29G>T (n.4171-29G>T) c.4243-29G>T (n.4243-29G>T) | gnomAD v4 |
| 3 | g.38556608A>G | CA2665110995 | SCN5A | c.4297-30T>C (n.4297-30T>C) c.4300-30T>C (n.4300-30T>C) c.4246-30T>C (n.4246-30T>C) c.4138-30T>C (n.4138-30T>C) c.4171-30T>C (n.4171-30T>C) c.4243-30T>C (n.4243-30T>C) | gnomAD v4 |
| 3 | g.38556608A>T | CA2665110996 | SCN5A | c.4297-30T>A (n.4297-30T>A) c.4300-30T>A (n.4300-30T>A) c.4246-30T>A (n.4246-30T>A) c.4138-30T>A (n.4138-30T>A) c.4171-30T>A (n.4171-30T>A) c.4243-30T>A (n.4243-30T>A) | gnomAD v4 |
| 3 | g.38556609G>A | CA2665110997 | SCN5A | c.4297-31C>T (n.4297-31C>T) c.4300-31C>T (n.4300-31C>T) c.4246-31C>T (n.4246-31C>T) c.4138-31C>T (n.4138-31C>T) c.4171-31C>T (n.4171-31C>T) c.4243-31C>T (n.4243-31C>T) | gnomAD v4 |
| 3 | g.38556609G>C | CA063083 | SCN5A | c.4297-31C>G (n.4297-31C>G) c.4300-31C>G (n.4300-31C>G) c.4246-31C>G (n.4246-31C>G) c.4138-31C>G (n.4138-31C>G) c.4171-31C>G (n.4171-31C>G) c.4243-31C>G (n.4243-31C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38556609G= | CA1358563676 | SCN5A | c.4297-31C= (n.4297-31C=) c.4300-31C= (n.4300-31C=) c.4246-31C= (n.4246-31C=) c.4138-31C= (n.4138-31C=) c.4171-31C= (n.4171-31C=) c.4243-31C= (n.4243-31C=) | |
| 3 | g.38556609G>T | CA2665110998 | SCN5A | c.4297-31C>A (n.4297-31C>A) c.4300-31C>A (n.4300-31C>A) c.4246-31C>A (n.4246-31C>A) c.4138-31C>A (n.4138-31C>A) c.4171-31C>A (n.4171-31C>A) c.4243-31C>A (n.4243-31C>A) | gnomAD v4 |
| 3 | g.38556610A= | CA1358563677 | SCN5A | c.4297-32T= (n.4297-32T=) c.4300-32T= (n.4300-32T=) c.4246-32T= (n.4246-32T=) c.4138-32T= (n.4138-32T=) c.4171-32T= (n.4171-32T=) c.4243-32T= (n.4243-32T=) | |
| 3 | g.38556610A>C | CA2665110999 | SCN5A | c.4297-32T>G (n.4297-32T>G) c.4300-32T>G (n.4300-32T>G) c.4246-32T>G (n.4246-32T>G) c.4138-32T>G (n.4138-32T>G) c.4171-32T>G (n.4171-32T>G) c.4243-32T>G (n.4243-32T>G) | gnomAD v4 |
| 3 | g.38556610A>G | CA1046992846 | SCN5A | c.4297-32T>C (n.4297-32T>C) c.4300-32T>C (n.4300-32T>C) c.4246-32T>C (n.4246-32T>C) c.4138-32T>C (n.4138-32T>C) c.4171-32T>C (n.4171-32T>C) c.4243-32T>C (n.4243-32T>C) | dbSNP |
| 3 | g.38556611C>A | CA2665111000 | SCN5A | c.4297-33G>T (n.4297-33G>T) c.4300-33G>T (n.4300-33G>T) c.4246-33G>T (n.4246-33G>T) c.4138-33G>T (n.4138-33G>T) c.4171-33G>T (n.4171-33G>T) c.4243-33G>T (n.4243-33G>T) | gnomAD v4 |
| 3 | g.38556611C>G | CA2665111001 | SCN5A | c.4297-33G>C (n.4297-33G>C) c.4300-33G>C (n.4300-33G>C) c.4246-33G>C (n.4246-33G>C) c.4138-33G>C (n.4138-33G>C) c.4171-33G>C (n.4171-33G>C) c.4243-33G>C (n.4243-33G>C) | gnomAD v4 |
| 3 | g.38556611C>T | CA2577553026 | SCN5A | c.4297-33G>A (n.4297-33G>A) c.4300-33G>A (n.4300-33G>A) c.4246-33G>A (n.4246-33G>A) c.4138-33G>A (n.4138-33G>A) c.4171-33G>A (n.4171-33G>A) c.4243-33G>A (n.4243-33G>A) | gnomAD v4 |
| 3 | g.38556612A>C | CA2665111002 | SCN5A | c.4297-34T>G (n.4297-34T>G) c.4300-34T>G (n.4300-34T>G) c.4246-34T>G (n.4246-34T>G) c.4138-34T>G (n.4138-34T>G) c.4171-34T>G (n.4171-34T>G) c.4243-34T>G (n.4243-34T>G) | gnomAD v4 |
| 3 | g.38556612A>G | CA2665111003 | SCN5A | c.4297-34T>C (n.4297-34T>C) c.4300-34T>C (n.4300-34T>C) c.4246-34T>C (n.4246-34T>C) c.4138-34T>C (n.4138-34T>C) c.4171-34T>C (n.4171-34T>C) c.4243-34T>C (n.4243-34T>C) | gnomAD v4 |
| 3 | g.38556612A>T | CA2577553029 | SCN5A | c.4297-34T>A (n.4297-34T>A) c.4300-34T>A (n.4300-34T>A) c.4246-34T>A (n.4246-34T>A) c.4138-34T>A (n.4138-34T>A) c.4171-34T>A (n.4171-34T>A) c.4243-34T>A (n.4243-34T>A) | gnomAD v4 |
| 3 | g.38556614G>C | CA2665111004 | SCN5A | c.4297-36C>G (n.4297-36C>G) c.4300-36C>G (n.4300-36C>G) c.4246-36C>G (n.4246-36C>G) c.4138-36C>G (n.4138-36C>G) c.4171-36C>G (n.4171-36C>G) c.4243-36C>G (n.4243-36C>G) | gnomAD v4 |
| 3 | g.38556614G>T | CA2665111005 | SCN5A | c.4297-36C>A (n.4297-36C>A) c.4300-36C>A (n.4300-36C>A) c.4246-36C>A (n.4246-36C>A) c.4138-36C>A (n.4138-36C>A) c.4171-36C>A (n.4171-36C>A) c.4243-36C>A (n.4243-36C>A) | gnomAD v4 |
| 3 | g.38556615C>A | CA2665111006 | SCN5A | c.4297-37G>T (n.4297-37G>T) c.4300-37G>T (n.4300-37G>T) c.4246-37G>T (n.4246-37G>T) c.4138-37G>T (n.4138-37G>T) c.4171-37G>T (n.4171-37G>T) c.4243-37G>T (n.4243-37G>T) | gnomAD v4 |
| 3 | g.38556615C>G | CA2665111007 | SCN5A | c.4297-37G>C (n.4297-37G>C) c.4300-37G>C (n.4300-37G>C) c.4246-37G>C (n.4246-37G>C) c.4138-37G>C (n.4138-37G>C) c.4171-37G>C (n.4171-37G>C) c.4243-37G>C (n.4243-37G>C) | gnomAD v4 |
| 3 | g.38556615C>T | CA2665111008 | SCN5A | c.4297-37G>A (n.4297-37G>A) c.4300-37G>A (n.4300-37G>A) c.4246-37G>A (n.4246-37G>A) c.4138-37G>A (n.4138-37G>A) c.4171-37G>A (n.4171-37G>A) c.4243-37G>A (n.4243-37G>A) | gnomAD v4 |
| 3 | g.38556616T>C | CA2665111009 | SCN5A | c.4297-38A>G (n.4297-38A>G) c.4300-38A>G (n.4300-38A>G) c.4246-38A>G (n.4246-38A>G) c.4138-38A>G (n.4138-38A>G) c.4171-38A>G (n.4171-38A>G) c.4243-38A>G (n.4243-38A>G) | gnomAD v4 |
| 3 | g.38556616T>G | CA2577553031 | SCN5A | c.4297-38A>C (n.4297-38A>C) c.4300-38A>C (n.4300-38A>C) c.4246-38A>C (n.4246-38A>C) c.4138-38A>C (n.4138-38A>C) c.4171-38A>C (n.4171-38A>C) c.4243-38A>C (n.4243-38A>C) | gnomAD v4 |
| 3 | g.38556616T= | CA1358563679 | SCN5A | c.4297-38A= (n.4297-38A=) c.4300-38A= (n.4300-38A=) c.4246-38A= (n.4246-38A=) c.4138-38A= (n.4138-38A=) c.4171-38A= (n.4171-38A=) c.4243-38A= (n.4243-38A=) | |
| 3 | g.38556617G>T | CA2665111010 | SCN5A | c.4297-39C>A (n.4297-39C>A) c.4300-39C>A (n.4300-39C>A) c.4246-39C>A (n.4246-39C>A) c.4138-39C>A (n.4138-39C>A) c.4171-39C>A (n.4171-39C>A) c.4243-39C>A (n.4243-39C>A) | gnomAD v4 |
| 3 | g.38556621_38556628dup | CA1358563680 | SCN5A | c.4297-46_4297-39dup (n.4297-46_4297-39dup) c.4300-46_4300-39dup (n.4300-46_4300-39dup) c.4246-46_4246-39dup (n.4246-46_4246-39dup) c.4138-46_4138-39dup (n.4138-46_4138-39dup) c.4171-46_4171-39dup (n.4171-46_4171-39dup) c.4243-46_4243-39dup (n.4243-46_4243-39dup) | dbSNP |
| 3 | g.38556618G>A | CA72943397 | SCN5A | c.4297-40C>T (n.4297-40C>T) c.4300-40C>T (n.4300-40C>T) c.4246-40C>T (n.4246-40C>T) c.4138-40C>T (n.4138-40C>T) c.4171-40C>T (n.4171-40C>T) c.4243-40C>T (n.4243-40C>T) | dbSNP gnomAD v2 |
| 3 | g.38556618G= | CA1358563682 | SCN5A | c.4297-40C= (n.4297-40C=) c.4300-40C= (n.4300-40C=) c.4246-40C= (n.4246-40C=) c.4138-40C= (n.4138-40C=) c.4171-40C= (n.4171-40C=) c.4243-40C= (n.4243-40C=) | |
| 3 | g.38556618G>T | CA2665111011 | SCN5A | c.4297-40C>A (n.4297-40C>A) c.4300-40C>A (n.4300-40C>A) c.4246-40C>A (n.4246-40C>A) c.4138-40C>A (n.4138-40C>A) c.4171-40C>A (n.4171-40C>A) c.4243-40C>A (n.4243-40C>A) | gnomAD v4 |
| 3 | g.38556619G>A | CA063086 | SCN5A | c.4297-41C>T (n.4297-41C>T) c.4300-41C>T (n.4300-41C>T) c.4246-41C>T (n.4246-41C>T) c.4138-41C>T (n.4138-41C>T) c.4171-41C>T (n.4171-41C>T) c.4243-41C>T (n.4243-41C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38556619G= | CA1358563684 | SCN5A | c.4297-41C= (n.4297-41C=) c.4300-41C= (n.4300-41C=) c.4246-41C= (n.4246-41C=) c.4138-41C= (n.4138-41C=) c.4171-41C= (n.4171-41C=) c.4243-41C= (n.4243-41C=) | |
| 3 | g.38556619G>T | CA2665111012 | SCN5A | c.4297-41C>A (n.4297-41C>A) c.4300-41C>A (n.4300-41C>A) c.4246-41C>A (n.4246-41C>A) c.4138-41C>A (n.4138-41C>A) c.4171-41C>A (n.4171-41C>A) c.4243-41C>A (n.4243-41C>A) | gnomAD v4 |
| 3 | g.38556620G>A | CA1358563685 | SCN5A | c.4297-42C>T (n.4297-42C>T) c.4300-42C>T (n.4300-42C>T) c.4246-42C>T (n.4246-42C>T) c.4138-42C>T (n.4138-42C>T) c.4171-42C>T (n.4171-42C>T) c.4243-42C>T (n.4243-42C>T) | dbSNP gnomAD v4 |
| 3 | g.38556620G= | CA1358563687 | SCN5A | c.4297-42C= (n.4297-42C=) c.4300-42C= (n.4300-42C=) c.4246-42C= (n.4246-42C=) c.4138-42C= (n.4138-42C=) c.4171-42C= (n.4171-42C=) c.4243-42C= (n.4243-42C=) | |
| 3 | g.38556620G>T | CA2665111013 | SCN5A | c.4297-42C>A (n.4297-42C>A) c.4300-42C>A (n.4300-42C>A) c.4246-42C>A (n.4246-42C>A) c.4138-42C>A (n.4138-42C>A) c.4171-42C>A (n.4171-42C>A) c.4243-42C>A (n.4243-42C>A) | gnomAD v4 |
| 3 | g.38556621T>G | CA906898093 | SCN5A | c.4297-43A>C (n.4297-43A>C) c.4300-43A>C (n.4300-43A>C) c.4246-43A>C (n.4246-43A>C) c.4138-43A>C (n.4138-43A>C) c.4171-43A>C (n.4171-43A>C) c.4243-43A>C (n.4243-43A>C) | dbSNP |
| 3 | g.38556621T= | CA1358563689 | SCN5A | c.4297-43A= (n.4297-43A=) c.4300-43A= (n.4300-43A=) c.4246-43A= (n.4246-43A=) c.4138-43A= (n.4138-43A=) c.4171-43A= (n.4171-43A=) c.4243-43A= (n.4243-43A=) | |
| 3 | g.38556622C>A | CA2665111014 | SCN5A | c.4297-44G>T (n.4297-44G>T) c.4300-44G>T (n.4300-44G>T) c.4246-44G>T (n.4246-44G>T) c.4138-44G>T (n.4138-44G>T) c.4171-44G>T (n.4171-44G>T) c.4243-44G>T (n.4243-44G>T) | gnomAD v4 |
| 3 | g.38556622C= | CA1358563690 | SCN5A | c.4297-44G= (n.4297-44G=) c.4300-44G= (n.4300-44G=) c.4246-44G= (n.4246-44G=) c.4138-44G= (n.4138-44G=) c.4171-44G= (n.4171-44G=) c.4243-44G= (n.4243-44G=) | |
| 3 | g.38556622C>G | CA2665111015 | SCN5A | c.4297-44G>C (n.4297-44G>C) c.4300-44G>C (n.4300-44G>C) c.4246-44G>C (n.4246-44G>C) c.4138-44G>C (n.4138-44G>C) c.4171-44G>C (n.4171-44G>C) c.4243-44G>C (n.4243-44G>C) | gnomAD v4 |
| 3 | g.38556622C>T | CA1358563692 | SCN5A | c.4297-44G>A (n.4297-44G>A) c.4300-44G>A (n.4300-44G>A) c.4246-44G>A (n.4246-44G>A) c.4138-44G>A (n.4138-44G>A) c.4171-44G>A (n.4171-44G>A) c.4243-44G>A (n.4243-44G>A) | dbSNP gnomAD v4 |
| 3 | g.38556623T>C | CA2665111016 | SCN5A | c.4297-45A>G (n.4297-45A>G) c.4300-45A>G (n.4300-45A>G) c.4246-45A>G (n.4246-45A>G) c.4138-45A>G (n.4138-45A>G) c.4171-45A>G (n.4171-45A>G) c.4243-45A>G (n.4243-45A>G) | gnomAD v4 |
| 3 | g.38556623T>G | CA2665111017 | SCN5A | c.4297-45A>C (n.4297-45A>C) c.4300-45A>C (n.4300-45A>C) c.4246-45A>C (n.4246-45A>C) c.4138-45A>C (n.4138-45A>C) c.4171-45A>C (n.4171-45A>C) c.4243-45A>C (n.4243-45A>C) | gnomAD v4 |
| 3 | g.38556624C>A | CA2665111018 | SCN5A | c.4297-46G>T (n.4297-46G>T) c.4300-46G>T (n.4300-46G>T) c.4246-46G>T (n.4246-46G>T) c.4138-46G>T (n.4138-46G>T) c.4171-46G>T (n.4171-46G>T) c.4243-46G>T (n.4243-46G>T) | gnomAD v4 |
| 3 | g.38556624C= | CA1358563694 | SCN5A | c.4297-46G= (n.4297-46G=) c.4300-46G= (n.4300-46G=) c.4246-46G= (n.4246-46G=) c.4138-46G= (n.4138-46G=) c.4171-46G= (n.4171-46G=) c.4243-46G= (n.4243-46G=) | |
| 3 | g.38556624C>G | CA1046992850 | SCN5A | c.4297-46G>C (n.4297-46G>C) c.4300-46G>C (n.4300-46G>C) c.4246-46G>C (n.4246-46G>C) c.4138-46G>C (n.4138-46G>C) c.4171-46G>C (n.4171-46G>C) c.4243-46G>C (n.4243-46G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556624C>T | CA063093 | SCN5A | c.4297-46G>A (n.4297-46G>A) c.4300-46G>A (n.4300-46G>A) c.4246-46G>A (n.4246-46G>A) c.4138-46G>A (n.4138-46G>A) c.4171-46G>A (n.4171-46G>A) c.4243-46G>A (n.4243-46G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556625G>A | CA063097 | SCN5A | c.4297-47C>T (n.4297-47C>T) c.4300-47C>T (n.4300-47C>T) c.4246-47C>T (n.4246-47C>T) c.4138-47C>T (n.4138-47C>T) c.4171-47C>T (n.4171-47C>T) c.4243-47C>T (n.4243-47C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556625G= | CA1358563696 | SCN5A | c.4297-47C= (n.4297-47C=) c.4300-47C= (n.4300-47C=) c.4246-47C= (n.4246-47C=) c.4138-47C= (n.4138-47C=) c.4171-47C= (n.4171-47C=) c.4243-47C= (n.4243-47C=) | |
| 3 | g.38556625G>T | CA2665111019 | SCN5A | c.4297-47C>A (n.4297-47C>A) c.4300-47C>A (n.4300-47C>A) c.4246-47C>A (n.4246-47C>A) c.4138-47C>A (n.4138-47C>A) c.4171-47C>A (n.4171-47C>A) c.4243-47C>A (n.4243-47C>A) | gnomAD v4 |
| 3 | g.38556629dup | CA2319538 | SCN5A | c.4297-47dup (n.4297-47dup) c.4300-47dup (n.4300-47dup) c.4246-47dup (n.4246-47dup) c.4138-47dup (n.4138-47dup) c.4171-47dup (n.4171-47dup) c.4243-47dup (n.4243-47dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556629del | CA2577553032 | SCN5A | c.4297-47del (n.4297-47del) c.4300-47del (n.4300-47del) c.4246-47del (n.4246-47del) c.4138-47del (n.4138-47del) c.4171-47del (n.4171-47del) c.4243-47del (n.4243-47del) | gnomAD v4 |
| 3 | g.38556626G>A | CA2665111020 | SCN5A | c.4297-48C>T (n.4297-48C>T) c.4300-48C>T (n.4300-48C>T) c.4246-48C>T (n.4246-48C>T) c.4138-48C>T (n.4138-48C>T) c.4171-48C>T (n.4171-48C>T) c.4243-48C>T (n.4243-48C>T) | gnomAD v4 |
| 3 | g.38556626G>T | CA2665111021 | SCN5A | c.4297-48C>A (n.4297-48C>A) c.4300-48C>A (n.4300-48C>A) c.4246-48C>A (n.4246-48C>A) c.4138-48C>A (n.4138-48C>A) c.4171-48C>A (n.4171-48C>A) c.4243-48C>A (n.4243-48C>A) | gnomAD v4 |
| 3 | g.38556627G>A | CA906898100 | SCN5A | c.4297-49C>T (n.4297-49C>T) c.4300-49C>T (n.4300-49C>T) c.4246-49C>T (n.4246-49C>T) c.4138-49C>T (n.4138-49C>T) c.4171-49C>T (n.4171-49C>T) c.4243-49C>T (n.4243-49C>T) | dbSNP gnomAD v4 |
| 3 | g.38556627G>C | CA2665111022 | SCN5A | c.4297-49C>G (n.4297-49C>G) c.4300-49C>G (n.4300-49C>G) c.4246-49C>G (n.4246-49C>G) c.4138-49C>G (n.4138-49C>G) c.4171-49C>G (n.4171-49C>G) c.4243-49C>G (n.4243-49C>G) | gnomAD v4 |
| 3 | g.38556627G= | CA1358563698 | SCN5A | c.4297-49C= (n.4297-49C=) c.4300-49C= (n.4300-49C=) c.4246-49C= (n.4246-49C=) c.4138-49C= (n.4138-49C=) c.4171-49C= (n.4171-49C=) c.4243-49C= (n.4243-49C=) | |
| 3 | g.38556627G>T | CA1046992854 | SCN5A | c.4297-49C>A (n.4297-49C>A) c.4300-49C>A (n.4300-49C>A) c.4246-49C>A (n.4246-49C>A) c.4138-49C>A (n.4138-49C>A) c.4171-49C>A (n.4171-49C>A) c.4243-49C>A (n.4243-49C>A) | gnomAD v3 gnomAD v4 |
| 3 | g.38556628G>T | CA647831739 | SCN5A | c.4297-50C>A (n.4297-50C>A) c.4300-50C>A (n.4300-50C>A) c.4246-50C>A (n.4246-50C>A) c.4138-50C>A (n.4138-50C>A) c.4171-50C>A (n.4171-50C>A) c.4243-50C>A (n.4243-50C>A) | gnomAD v4 COSMIC |
| 3 | g.38556629G>A | CA2665111023 | SCN5A | c.4297-51C>T (n.4297-51C>T) c.4300-51C>T (n.4300-51C>T) c.4246-51C>T (n.4246-51C>T) c.4138-51C>T (n.4138-51C>T) c.4171-51C>T (n.4171-51C>T) c.4243-51C>T (n.4243-51C>T) | gnomAD v4 |
| 3 | g.38556629G>C | CA542270110 | SCN5A | c.4297-51C>G (n.4297-51C>G) c.4300-51C>G (n.4300-51C>G) c.4246-51C>G (n.4246-51C>G) c.4138-51C>G (n.4138-51C>G) c.4171-51C>G (n.4171-51C>G) c.4243-51C>G (n.4243-51C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556629G= | CA1358563700 | SCN5A | c.4297-51C= (n.4297-51C=) c.4300-51C= (n.4300-51C=) c.4246-51C= (n.4246-51C=) c.4138-51C= (n.4138-51C=) c.4171-51C= (n.4171-51C=) c.4243-51C= (n.4243-51C=) | |
| 3 | g.38556629G>T | CA2577553035 | SCN5A | c.4297-51C>A (n.4297-51C>A) c.4300-51C>A (n.4300-51C>A) c.4246-51C>A (n.4246-51C>A) c.4138-51C>A (n.4138-51C>A) c.4171-51C>A (n.4171-51C>A) c.4243-51C>A (n.4243-51C>A) | gnomAD v4 |
| 3 | g.38556630T>A | CA2665111025 | SCN5A | c.4297-52A>T (n.4297-52A>T) c.4300-52A>T (n.4300-52A>T) c.4246-52A>T (n.4246-52A>T) c.4138-52A>T (n.4138-52A>T) c.4171-52A>T (n.4171-52A>T) c.4243-52A>T (n.4243-52A>T) | gnomAD v4 |
| 3 | g.38556630T>C | CA2665111026 | SCN5A | c.4297-52A>G (n.4297-52A>G) c.4300-52A>G (n.4300-52A>G) c.4246-52A>G (n.4246-52A>G) c.4138-52A>G (n.4138-52A>G) c.4171-52A>G (n.4171-52A>G) c.4243-52A>G (n.4243-52A>G) | gnomAD v4 |
| 3 | g.38556630T>G | CA1358563704 | SCN5A | c.4297-52A>C (n.4297-52A>C) c.4300-52A>C (n.4300-52A>C) c.4246-52A>C (n.4246-52A>C) c.4138-52A>C (n.4138-52A>C) c.4171-52A>C (n.4171-52A>C) c.4243-52A>C (n.4243-52A>C) | dbSNP gnomAD v4 |
| 3 | g.38556630T= | CA1358563703 | SCN5A | c.4297-52A= (n.4297-52A=) c.4300-52A= (n.4300-52A=) c.4246-52A= (n.4246-52A=) c.4138-52A= (n.4138-52A=) c.4171-52A= (n.4171-52A=) c.4243-52A= (n.4243-52A=) | |
| 3 | g.38556630_38556631del | CA2665111024 | SCN5A | c.4297-53_4297-52del (n.4297-53_4297-52del) c.4300-53_4300-52del (n.4300-53_4300-52del) c.4246-53_4246-52del (n.4246-53_4246-52del) c.4138-53_4138-52del (n.4138-53_4138-52del) c.4171-53_4171-52del (n.4171-53_4171-52del) c.4243-53_4243-52del (n.4243-53_4243-52del) | gnomAD v4 |
| 3 | g.38556631C>A | CA2665111027 | SCN5A | c.4297-53G>T (n.4297-53G>T) c.4300-53G>T (n.4300-53G>T) c.4246-53G>T (n.4246-53G>T) c.4138-53G>T (n.4138-53G>T) c.4171-53G>T (n.4171-53G>T) c.4243-53G>T (n.4243-53G>T) | gnomAD v4 |
| 3 | g.38556631C>G | CA2665111028 | SCN5A | c.4297-53G>C (n.4297-53G>C) c.4300-53G>C (n.4300-53G>C) c.4246-53G>C (n.4246-53G>C) c.4138-53G>C (n.4138-53G>C) c.4171-53G>C (n.4171-53G>C) c.4243-53G>C (n.4243-53G>C) | gnomAD v4 |
| 3 | g.38556631C>T | CA2665111029 | SCN5A | c.4297-53G>A (n.4297-53G>A) c.4300-53G>A (n.4300-53G>A) c.4246-53G>A (n.4246-53G>A) c.4138-53G>A (n.4138-53G>A) c.4171-53G>A (n.4171-53G>A) c.4243-53G>A (n.4243-53G>A) | gnomAD v4 |
| 3 | g.38556631_38556632insGCCGT | CA2665111030 | SCN5A | c.4297-54_4297-53insACGGC (n.4297-54_4297-53insACGGC) c.4300-54_4300-53insACGGC (n.4300-54_4300-53insACGGC) c.4246-54_4246-53insACGGC (n.4246-54_4246-53insACGGC) c.4138-54_4138-53insACGGC (n.4138-54_4138-53insACGGC) c.4171-54_4171-53insACGGC (n.4171-54_4171-53insACGGC) c.4243-54_4243-53insACGGC (n.4243-54_4243-53insACGGC) | gnomAD v4 |
| 3 | g.38556632A>C | CA2665111032 | SCN5A | c.4297-54T>G (n.4297-54T>G) c.4300-54T>G (n.4300-54T>G) c.4246-54T>G (n.4246-54T>G) c.4138-54T>G (n.4138-54T>G) c.4171-54T>G (n.4171-54T>G) c.4243-54T>G (n.4243-54T>G) | gnomAD v4 |
| 3 | g.38556632_38556636del | CA2665111031 | SCN5A | c.4297-58_4297-54del (n.4297-58_4297-54del) c.4300-58_4300-54del (n.4300-58_4300-54del) c.4246-58_4246-54del (n.4246-58_4246-54del) c.4138-58_4138-54del (n.4138-58_4138-54del) c.4171-58_4171-54del (n.4171-58_4171-54del) c.4243-58_4243-54del (n.4243-58_4243-54del) | gnomAD v4 |
| 3 | g.38556632_38556645del | CA2755901534 | SCN5A | c.4297-67_4297-54del (n.4297-67_4297-54del) c.4300-67_4300-54del (n.4300-67_4300-54del) c.4246-67_4246-54del (n.4246-67_4246-54del) c.4138-67_4138-54del (n.4138-67_4138-54del) c.4171-67_4171-54del (n.4171-67_4171-54del) c.4243-67_4243-54del (n.4243-67_4243-54del) | |
| 3 | g.38556632_38556633insT | CA2665111035 | SCN5A | c.4297-55_4297-54insA (n.4297-55_4297-54insA) c.4300-55_4300-54insA (n.4300-55_4300-54insA) c.4246-55_4246-54insA (n.4246-55_4246-54insA) c.4138-55_4138-54insA (n.4138-55_4138-54insA) c.4171-55_4171-54insA (n.4171-55_4171-54insA) c.4243-55_4243-54insA (n.4243-55_4243-54insA) | gnomAD v4 |
| 3 | g.38556633del | CA2665111033 | SCN5A | c.4297-55del (n.4297-55del) c.4300-55del (n.4300-55del) c.4246-55del (n.4246-55del) c.4138-55del (n.4138-55del) c.4171-55del (n.4171-55del) c.4243-55del (n.4243-55del) | gnomAD v4 |
| 3 | g.38556633C>A | CA2526348938 | SCN5A | c.4297-55G>T (n.4297-55G>T) c.4300-55G>T (n.4300-55G>T) c.4246-55G>T (n.4246-55G>T) c.4138-55G>T (n.4138-55G>T) c.4171-55G>T (n.4171-55G>T) c.4243-55G>T (n.4243-55G>T) | gnomAD v4 |
| 3 | g.38556633C>T | CA2665111034 | SCN5A | c.4297-55G>A (n.4297-55G>A) c.4300-55G>A (n.4300-55G>A) c.4246-55G>A (n.4246-55G>A) c.4138-55G>A (n.4138-55G>A) c.4171-55G>A (n.4171-55G>A) c.4243-55G>A (n.4243-55G>A) | gnomAD v4 |
| 3 | g.38556634A>C | CA1046992860 | SCN5A | c.4297-56T>G (n.4297-56T>G) c.4300-56T>G (n.4300-56T>G) c.4246-56T>G (n.4246-56T>G) c.4138-56T>G (n.4138-56T>G) c.4171-56T>G (n.4171-56T>G) c.4243-56T>G (n.4243-56T>G) | gnomAD v3 gnomAD v4 |
| 3 | g.38556634A>G | CA2577553036 | SCN5A | c.4297-56T>C (n.4297-56T>C) c.4300-56T>C (n.4300-56T>C) c.4246-56T>C (n.4246-56T>C) c.4138-56T>C (n.4138-56T>C) c.4171-56T>C (n.4171-56T>C) c.4243-56T>C (n.4243-56T>C) | gnomAD v4 |
| 3 | g.38556634A>T | CA1046992863 | SCN5A | c.4297-56T>A (n.4297-56T>A) c.4300-56T>A (n.4300-56T>A) c.4246-56T>A (n.4246-56T>A) c.4138-56T>A (n.4138-56T>A) c.4171-56T>A (n.4171-56T>A) c.4243-56T>A (n.4243-56T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556634_38556635insAT | CA2665111038 | SCN5A | c.4297-57_4297-56insAT (n.4297-57_4297-56insAT) c.4300-57_4300-56insAT (n.4300-57_4300-56insAT) c.4246-57_4246-56insAT (n.4246-57_4246-56insAT) c.4138-57_4138-56insAT (n.4138-57_4138-56insAT) c.4171-57_4171-56insAT (n.4171-57_4171-56insAT) c.4243-57_4243-56insAT (n.4243-57_4243-56insAT) | gnomAD v4 |
| 3 | g.38556635T>C | CA72943406 | SCN5A | c.4297-57A>G (n.4297-57A>G) c.4300-57A>G (n.4300-57A>G) c.4246-57A>G (n.4246-57A>G) c.4138-57A>G (n.4138-57A>G) c.4171-57A>G (n.4171-57A>G) c.4243-57A>G (n.4243-57A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556635T>G | CA647831741 | SCN5A | c.4297-57A>C (n.4297-57A>C) c.4300-57A>C (n.4300-57A>C) c.4246-57A>C (n.4246-57A>C) c.4138-57A>C (n.4138-57A>C) c.4171-57A>C (n.4171-57A>C) c.4243-57A>C (n.4243-57A>C) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38556635T= | CA1358563706 | SCN5A | c.4297-57A= (n.4297-57A=) c.4300-57A= (n.4300-57A=) c.4246-57A= (n.4246-57A=) c.4138-57A= (n.4138-57A=) c.4171-57A= (n.4171-57A=) c.4243-57A= (n.4243-57A=) | |
| 3 | g.38556635dup | CA2665111036 | SCN5A | c.4297-57dup (n.4297-57dup) c.4300-57dup (n.4300-57dup) c.4246-57dup (n.4246-57dup) c.4138-57dup (n.4138-57dup) c.4171-57dup (n.4171-57dup) c.4243-57dup (n.4243-57dup) | gnomAD v4 |
| 3 | g.38556642_38556651del | CA2665111037 | SCN5A | c.4297-66_4297-57del (n.4297-66_4297-57del) c.4300-66_4300-57del (n.4300-66_4300-57del) c.4246-66_4246-57del (n.4246-66_4246-57del) c.4138-66_4138-57del (n.4138-66_4138-57del) c.4171-66_4171-57del (n.4171-66_4171-57del) c.4243-66_4243-57del (n.4243-66_4243-57del) | gnomAD v4 |
| 3 | g.38556636G>A | CA2665111041 | SCN5A | c.4297-58C>T (n.4297-58C>T) c.4300-58C>T (n.4300-58C>T) c.4246-58C>T (n.4246-58C>T) c.4138-58C>T (n.4138-58C>T) c.4171-58C>T (n.4171-58C>T) c.4243-58C>T (n.4243-58C>T) | gnomAD v4 |
| 3 | g.38556636G>C | CA2665111042 | SCN5A | c.4297-58C>G (n.4297-58C>G) c.4300-58C>G (n.4300-58C>G) c.4246-58C>G (n.4246-58C>G) c.4138-58C>G (n.4138-58C>G) c.4171-58C>G (n.4171-58C>G) c.4243-58C>G (n.4243-58C>G) | gnomAD v4 |
| 3 | g.38556636G>T | CA2577553041 | SCN5A | c.4297-58C>A (n.4297-58C>A) c.4300-58C>A (n.4300-58C>A) c.4246-58C>A (n.4246-58C>A) c.4138-58C>A (n.4138-58C>A) c.4171-58C>A (n.4171-58C>A) c.4243-58C>A (n.4243-58C>A) | gnomAD v4 |
| 3 | g.38556639dup | CA2665111039 | SCN5A | c.4297-58dup (n.4297-58dup) c.4300-58dup (n.4300-58dup) c.4246-58dup (n.4246-58dup) c.4138-58dup (n.4138-58dup) c.4171-58dup (n.4171-58dup) c.4243-58dup (n.4243-58dup) | gnomAD v4 |
| 3 | g.38556640_38556644del | CA2577553040 | SCN5A | c.4297-62_4297-58del (n.4297-62_4297-58del) c.4300-62_4300-58del (n.4300-62_4300-58del) c.4246-62_4246-58del (n.4246-62_4246-58del) c.4138-62_4138-58del (n.4138-62_4138-58del) c.4171-62_4171-58del (n.4171-62_4171-58del) c.4243-62_4243-58del (n.4243-62_4243-58del) | gnomAD v4 |
| 3 | g.38556637_38556649del | CA2665111040 | SCN5A | c.4297-70_4297-58del (n.4297-70_4297-58del) c.4300-70_4300-58del (n.4300-70_4300-58del) c.4246-70_4246-58del (n.4246-70_4246-58del) c.4138-70_4138-58del (n.4138-70_4138-58del) c.4171-70_4171-58del (n.4171-70_4171-58del) c.4243-70_4243-58del (n.4243-70_4243-58del) | gnomAD v4 |
| 3 | g.38556637G>A | CA1046992867 | SCN5A | c.4297-59C>T (n.4297-59C>T) c.4300-59C>T (n.4300-59C>T) c.4246-59C>T (n.4246-59C>T) c.4138-59C>T (n.4138-59C>T) c.4171-59C>T (n.4171-59C>T) c.4243-59C>T (n.4243-59C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556637G= | CA1358563708 | SCN5A | c.4297-59C= (n.4297-59C=) c.4300-59C= (n.4300-59C=) c.4246-59C= (n.4246-59C=) c.4138-59C= (n.4138-59C=) c.4171-59C= (n.4171-59C=) c.4243-59C= (n.4243-59C=) | |
| 3 | g.38556637G>T | CA2665111043 | SCN5A | c.4297-59C>A (n.4297-59C>A) c.4300-59C>A (n.4300-59C>A) c.4246-59C>A (n.4246-59C>A) c.4138-59C>A (n.4138-59C>A) c.4171-59C>A (n.4171-59C>A) c.4243-59C>A (n.4243-59C>A) | gnomAD v4 |
| 3 | g.38556637_38556638insCC | CA2665111045 | SCN5A | c.4297-60_4297-59insGG (n.4297-60_4297-59insGG) c.4300-60_4300-59insGG (n.4300-60_4300-59insGG) c.4246-60_4246-59insGG (n.4246-60_4246-59insGG) c.4138-60_4138-59insGG (n.4138-60_4138-59insGG) c.4171-60_4171-59insGG (n.4171-60_4171-59insGG) c.4243-60_4243-59insGG (n.4243-60_4243-59insGG) | gnomAD v4 |
| 3 | g.38556638G>A | CA2577553042 | SCN5A | c.4297-60C>T (n.4297-60C>T) c.4300-60C>T (n.4300-60C>T) c.4246-60C>T (n.4246-60C>T) c.4138-60C>T (n.4138-60C>T) c.4171-60C>T (n.4171-60C>T) c.4243-60C>T (n.4243-60C>T) | |
| 3 | g.38556638G>T | CA2665111044 | SCN5A | c.4297-60C>A (n.4297-60C>A) c.4300-60C>A (n.4300-60C>A) c.4246-60C>A (n.4246-60C>A) c.4138-60C>A (n.4138-60C>A) c.4171-60C>A (n.4171-60C>A) c.4243-60C>A (n.4243-60C>A) | gnomAD v4 |
| 3 | g.38556639G>C | CA2665111046 | SCN5A | c.4297-61C>G (n.4297-61C>G) c.4300-61C>G (n.4300-61C>G) c.4246-61C>G (n.4246-61C>G) c.4138-61C>G (n.4138-61C>G) c.4171-61C>G (n.4171-61C>G) c.4243-61C>G (n.4243-61C>G) | gnomAD v4 |
| 3 | g.38556639G>T | CA2665111047 | SCN5A | c.4297-61C>A (n.4297-61C>A) c.4300-61C>A (n.4300-61C>A) c.4246-61C>A (n.4246-61C>A) c.4138-61C>A (n.4138-61C>A) c.4171-61C>A (n.4171-61C>A) c.4243-61C>A (n.4243-61C>A) | gnomAD v4 |