| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38556535A= | CA1358563487 | SCN5A | c.4340T= (p.Ile1447=) c.4343T= (p.Ile1448=) c.4289T= (p.Ile1430=) c.4181T= (p.Ile1394=) c.4214T= (p.Ile1405=) c.4286T= (p.Ile1429=) | |
| 3 | g.38556535A>C | CA352145431 | SCN5A | c.4340T>G (p.Ile1447Ser) c.4343T>G (p.Ile1448Ser) c.4289T>G (p.Ile1430Ser) c.4181T>G (p.Ile1394Ser) c.4214T>G (p.Ile1405Ser) c.4286T>G (p.Ile1429Ser) | |
| 3 | g.38556535A>G | CA018157 | SCN5A | c.4340T>C (p.Ile1447Thr) c.4343T>C (p.Ile1448Thr) c.4289T>C (p.Ile1430Thr) c.4181T>C (p.Ile1394Thr) c.4214T>C (p.Ile1405Thr) c.4286T>C (p.Ile1429Thr) | ClinVar dbSNP |
| 3 | g.38556535A>T | CA352145432 | SCN5A | c.4340T>A (p.Ile1447Asn) c.4343T>A (p.Ile1448Asn) c.4289T>A (p.Ile1430Asn) c.4181T>A (p.Ile1394Asn) c.4214T>A (p.Ile1405Asn) c.4286T>A (p.Ile1429Asn) | gnomAD v4 |
| 3 | g.38556536T>A | CA352145433 | SCN5A | c.4339A>T (p.Ile1447Phe) c.4342A>T (p.Ile1448Phe) c.4288A>T (p.Ile1430Phe) c.4180A>T (p.Ile1394Phe) c.4213A>T (p.Ile1405Phe) c.4285A>T (p.Ile1429Phe) | |
| 3 | g.38556536T>C | CA352145434 | SCN5A | c.4339A>G (p.Ile1447Val) c.4342A>G (p.Ile1448Val) c.4288A>G (p.Ile1430Val) c.4180A>G (p.Ile1394Val) c.4213A>G (p.Ile1405Val) c.4285A>G (p.Ile1429Val) | |
| 3 | g.38556536T>G | CA018152 | SCN5A | c.4339A>C (p.Ile1447Leu) c.4342A>C (p.Ile1448Leu) c.4288A>C (p.Ile1430Leu) c.4180A>C (p.Ile1394Leu) c.4213A>C (p.Ile1405Leu) c.4285A>C (p.Ile1429Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556536T= | CA1358563492 | SCN5A | c.4339A= (p.Ile1447=) c.4342A= (p.Ile1448=) c.4288A= (p.Ile1430=) c.4180A= (p.Ile1394=) c.4213A= (p.Ile1405=) c.4285A= (p.Ile1429=) | |
| 3 | g.38556537G>A | CA433136138 | SCN5A | c.4338C>T (p.Tyr1446=) c.4341C>T (p.Tyr1447=) c.4287C>T (p.Tyr1429=) c.4179C>T (p.Tyr1393=) c.4212C>T (p.Tyr1404=) c.4284C>T (p.Tyr1428=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556537G>C | CA352145435 | SCN5A | c.4338C>G (p.Tyr1446Ter) c.4341C>G (p.Tyr1447Ter) c.4287C>G (p.Tyr1429Ter) c.4179C>G (p.Tyr1393Ter) c.4212C>G (p.Tyr1404Ter) c.4284C>G (p.Tyr1428Ter) | |
| 3 | g.38556537G= | CA1358563501 | SCN5A | c.4338C= (p.Tyr1446=) c.4341C= (p.Tyr1447=) c.4287C= (p.Tyr1429=) c.4179C= (p.Tyr1393=) c.4212C= (p.Tyr1404=) c.4284C= (p.Tyr1428=) | |
| 3 | g.38556537G>T | CA352145436 | SCN5A | c.4338C>A (p.Tyr1446Ter) c.4341C>A (p.Tyr1447Ter) c.4287C>A (p.Tyr1429Ter) c.4179C>A (p.Tyr1393Ter) c.4212C>A (p.Tyr1404Ter) c.4284C>A (p.Tyr1428Ter) | |
| 3 | g.38556538T>A | CA352145439 | SCN5A | c.4337A>T (p.Tyr1446Phe) c.4340A>T (p.Tyr1447Phe) c.4286A>T (p.Tyr1429Phe) c.4178A>T (p.Tyr1393Phe) c.4211A>T (p.Tyr1404Phe) c.4283A>T (p.Tyr1428Phe) | COSMIC COSMIC COSMIC |
| 3 | g.38556538T>C | CA352145437 | SCN5A | c.4337A>G (p.Tyr1446Cys) c.4340A>G (p.Tyr1447Cys) c.4286A>G (p.Tyr1429Cys) c.4178A>G (p.Tyr1393Cys) c.4211A>G (p.Tyr1404Cys) c.4283A>G (p.Tyr1428Cys) | |
| 3 | g.38556538T>G | CA352145438 | SCN5A | c.4337A>C (p.Tyr1446Ser) c.4340A>C (p.Tyr1447Ser) c.4286A>C (p.Tyr1429Ser) c.4178A>C (p.Tyr1393Ser) c.4211A>C (p.Tyr1404Ser) c.4283A>C (p.Tyr1428Ser) | |
| 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=) |