| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38560343A= | CA1358565738 | SCN5A | c.4046T= (p.Ile1349=) c.4049T= (p.Ile1350=) c.3887T= (p.Ile1296=) c.3920T= (p.Ile1307=) | |
| 3 | g.38560343A>C | CA352147293 | SCN5A | c.4046T>G (p.Ile1349Ser) c.4049T>G (p.Ile1350Ser) c.3887T>G (p.Ile1296Ser) c.3920T>G (p.Ile1307Ser) | |
| 3 | g.38560343A>G | CA017817 | SCN5A | c.4046T>C (p.Ile1349Thr) c.4049T>C (p.Ile1350Thr) c.3887T>C (p.Ile1296Thr) c.3920T>C (p.Ile1307Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38560343A>T | CA352147294 | SCN5A | c.4046T>A (p.Ile1349Asn) c.4049T>A (p.Ile1350Asn) c.3887T>A (p.Ile1296Asn) c.3920T>A (p.Ile1307Asn) | |
| 3 | g.38560344T>A | CA352147296 | SCN5A | c.4045A>T (p.Ile1349Phe) c.4048A>T (p.Ile1350Phe) c.3886A>T (p.Ile1296Phe) c.3919A>T (p.Ile1307Phe) | ClinVar dbSNP |
| 3 | g.38560344T>C | CA352147298 | SCN5A | c.4045A>G (p.Ile1349Val) c.4048A>G (p.Ile1350Val) c.3886A>G (p.Ile1296Val) c.3919A>G (p.Ile1307Val) | |
| 3 | g.38560344T>G | CA062762 | SCN5A | c.4045A>C (p.Ile1349Leu) c.4048A>C (p.Ile1350Leu) c.3886A>C (p.Ile1296Leu) c.3919A>C (p.Ile1307Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38560344T= | CA1358565739 | SCN5A | c.4045A= (p.Ile1349=) c.4048A= (p.Ile1350=) c.3886A= (p.Ile1296=) c.3919A= (p.Ile1307=) | |
| 3 | g.38560345G>A | CA433332466 | SCN5A | c.4044C>T (p.Ser1348=) c.4047C>T (p.Ser1349=) c.3885C>T (p.Ser1295=) c.3918C>T (p.Ser1306=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38560345G>C | CA352147301 | SCN5A | c.4044C>G (p.Ser1348Arg) c.4047C>G (p.Ser1349Arg) c.3885C>G (p.Ser1295Arg) c.3918C>G (p.Ser1306Arg) | |
| 3 | g.38560345G= | CA1358565740 | SCN5A | c.4044C= (p.Ser1348=) c.4047C= (p.Ser1349=) c.3885C= (p.Ser1295=) c.3918C= (p.Ser1306=) | |
| 3 | g.38560345G>T | CA352147303 | SCN5A | c.4044C>A (p.Ser1348Arg) c.4047C>A (p.Ser1349Arg) c.3885C>A (p.Ser1295Arg) c.3918C>A (p.Ser1306Arg) | |
| 3 | g.38560346C>A | CA352147313 | SCN5A | c.4043G>T (p.Ser1348Ile) c.4046G>T (p.Ser1349Ile) c.3884G>T (p.Ser1295Ile) c.3917G>T (p.Ser1306Ile) | |
| 3 | g.38560346C>G | CA352147314 | SCN5A | c.4043G>C (p.Ser1348Thr) c.4046G>C (p.Ser1349Thr) c.3884G>C (p.Ser1295Thr) c.3917G>C (p.Ser1306Thr) | |
| 3 | g.38560346C>T | CA352147316 | SCN5A | c.4043G>A (p.Ser1348Asn) c.4046G>A (p.Ser1349Asn) c.3884G>A (p.Ser1295Asn) c.3917G>A (p.Ser1306Asn) | gnomAD v4 |
| 3 | g.38560346_38560358delinsA | CA2739278200 | SCN5A | c.4031_4043delinsT (p.Trp1344_Ser1348delinsPhe) c.4034_4046delinsT (p.Trp1345_Ser1349delinsPhe) c.3872_3884delinsT (p.Trp1291_Ser1295delinsPhe) c.3905_3917delinsT (p.Trp1302_Ser1306delinsPhe) | ClinVar |
| 3 | g.38560347_38560358del | CA2573136263 | SCN5A | c.4032_4043del (p.Trp1344_Ser1348delinsCys) c.4035_4046del (p.Trp1345_Ser1349delinsCys) c.3873_3884del (p.Trp1291_Ser1295delinsCys) c.3906_3917del (p.Trp1302_Ser1306delinsCys) | dbSNP |
| 3 | g.38560347T>A | CA352147324 | SCN5A | c.4042A>T (p.Ser1348Cys) c.4045A>T (p.Ser1349Cys) c.3883A>T (p.Ser1295Cys) c.3916A>T (p.Ser1306Cys) | |
| 3 | g.38560347T>C | CA352147321 | SCN5A | c.4042A>G (p.Ser1348Gly) c.4045A>G (p.Ser1349Gly) c.3883A>G (p.Ser1295Gly) c.3916A>G (p.Ser1306Gly) | |
| 3 | g.38560347T>G | CA352147319 | SCN5A | c.4042A>C (p.Ser1348Arg) c.4045A>C (p.Ser1349Arg) c.3883A>C (p.Ser1295Arg) c.3916A>C (p.Ser1306Arg) | |
| 3 | g.38560348G>A | CA062758 | SCN5A | c.4041C>T (p.Phe1347=) c.4044C>T (p.Phe1348=) c.3882C>T (p.Phe1294=) c.3915C>T (p.Phe1305=) | dbSNP ExAC gnomAD v2 |
| 3 | g.38560348G>C | CA352147328 | SCN5A | c.4041C>G (p.Phe1347Leu) c.4044C>G (p.Phe1348Leu) c.3882C>G (p.Phe1294Leu) c.3915C>G (p.Phe1305Leu) | |
| 3 | g.38560348G= | CA1358565741 | SCN5A | c.4041C= (p.Phe1347=) c.4044C= (p.Phe1348=) c.3882C= (p.Phe1294=) c.3915C= (p.Phe1305=) | |
| 3 | g.38560348G>T | CA352147332 | SCN5A | c.4041C>A (p.Phe1347Leu) c.4044C>A (p.Phe1348Leu) c.3882C>A (p.Phe1294Leu) c.3915C>A (p.Phe1305Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38560349A>C | CA352147335 | SCN5A | c.4040T>G (p.Phe1347Cys) c.4043T>G (p.Phe1348Cys) c.3881T>G (p.Phe1294Cys) c.3914T>G (p.Phe1305Cys) | |
| 3 | g.38560349A>G | CA352147337 | SCN5A | c.4040T>C (p.Phe1347Ser) c.4043T>C (p.Phe1348Ser) c.3881T>C (p.Phe1294Ser) c.3914T>C (p.Phe1305Ser) | |
| 3 | g.38560349A>T | CA352147340 | SCN5A | c.4040T>A (p.Phe1347Tyr) c.4043T>A (p.Phe1348Tyr) c.3881T>A (p.Phe1294Tyr) c.3914T>A (p.Phe1305Tyr) | |
| 3 | g.38560350A>C | CA352147343 | SCN5A | c.4039T>G (p.Phe1347Val) c.4042T>G (p.Phe1348Val) c.3880T>G (p.Phe1294Val) c.3913T>G (p.Phe1305Val) | |
| 3 | g.38560350A>G | CA352147345 | SCN5A | c.4039T>C (p.Phe1347Leu) c.4042T>C (p.Phe1348Leu) c.3880T>C (p.Phe1294Leu) c.3913T>C (p.Phe1305Leu) | |
| 3 | g.38560350A>T | CA352147353 | SCN5A | c.4039T>A (p.Phe1347Ile) c.4042T>A (p.Phe1348Ile) c.3880T>A (p.Phe1294Ile) c.3913T>A (p.Phe1305Ile) | |
| 3 | g.38560351G>A | CA433332468 | SCN5A | c.4038C>T (p.Ile1346=) c.4041C>T (p.Ile1347=) c.3879C>T (p.Ile1293=) c.3912C>T (p.Ile1304=) | |
| 3 | g.38560351G>C | CA352147356 | SCN5A | c.4038C>G (p.Ile1346Met) c.4041C>G (p.Ile1347Met) c.3879C>G (p.Ile1293Met) c.3912C>G (p.Ile1304Met) | |
| 3 | g.38560351G>T | CA433332467 | SCN5A | c.4038C>A (p.Ile1346=) c.4041C>A (p.Ile1347=) c.3879C>A (p.Ile1293=) c.3912C>A (p.Ile1304=) | |
| 3 | g.38560352A>C | CA352147357 | SCN5A | c.4037T>G (p.Ile1346Ser) c.4040T>G (p.Ile1347Ser) c.3878T>G (p.Ile1293Ser) c.3911T>G (p.Ile1304Ser) | |
| 3 | g.38560352A>G | CA352147360 | SCN5A | c.4037T>C (p.Ile1346Thr) c.4040T>C (p.Ile1347Thr) c.3878T>C (p.Ile1293Thr) c.3911T>C (p.Ile1304Thr) | ClinVar |
| 3 | g.38560352A>T | CA352147362 | SCN5A | c.4037T>A (p.Ile1346Asn) c.4040T>A (p.Ile1347Asn) c.3878T>A (p.Ile1293Asn) c.3911T>A (p.Ile1304Asn) | |
| 3 | g.38560353T>A | CA352147366 | SCN5A | c.4036A>T (p.Ile1346Phe) c.4039A>T (p.Ile1347Phe) c.3877A>T (p.Ile1293Phe) c.3910A>T (p.Ile1304Phe) | |
| 3 | g.38560353T>C | CA352147369 | SCN5A | c.4036A>G (p.Ile1346Val) c.4039A>G (p.Ile1347Val) c.3877A>G (p.Ile1293Val) c.3910A>G (p.Ile1304Val) | |
| 3 | g.38560353T>G | CA352147364 | SCN5A | c.4036A>C (p.Ile1346Leu) c.4039A>C (p.Ile1347Leu) c.3877A>C (p.Ile1293Leu) c.3910A>C (p.Ile1304Leu) | |
| 3 | g.38560354G>A | CA433332471 | SCN5A | c.4035C>T (p.Leu1345=) c.4038C>T (p.Leu1346=) c.3876C>T (p.Leu1292=) c.3909C>T (p.Leu1303=) | |
| 3 | g.38560354G>C | CA433332470 | SCN5A | c.4035C>G (p.Leu1345=) c.4038C>G (p.Leu1346=) c.3876C>G (p.Leu1292=) c.3909C>G (p.Leu1303=) | |
| 3 | g.38560354G>T | CA433332469 | SCN5A | c.4035C>A (p.Leu1345=) c.4038C>A (p.Leu1346=) c.3876C>A (p.Leu1292=) c.3909C>A (p.Leu1303=) | |
| 3 | g.38560355_38560356del | CA2586965782 | SCN5A | c.4034_4035del (p.Leu1345HisfsTer?) c.4037_4038del (p.Leu1346HisfsTer?) c.3875_3876del (p.Leu1292HisfsTer?) c.3908_3909del (p.Leu1303HisfsTer?) | |
| 3 | g.38560355A= | CA1358565742 | SCN5A | c.4034T= (p.Leu1345=) c.4037T= (p.Leu1346=) c.3875T= (p.Leu1292=) c.3908T= (p.Leu1303=) | |
| 3 | g.38560355A>C | CA352147370 | SCN5A | c.4034T>G (p.Leu1345Arg) c.4037T>G (p.Leu1346Arg) c.3875T>G (p.Leu1292Arg) c.3908T>G (p.Leu1303Arg) | |
| 3 | g.38560355A>G | CA017808 | SCN5A | c.4034T>C (p.Leu1345Pro) c.4037T>C (p.Leu1346Pro) c.3875T>C (p.Leu1292Pro) c.3908T>C (p.Leu1303Pro) | ClinVar dbSNP |
| 3 | g.38560355A>T | CA352147373 | SCN5A | c.4034T>A (p.Leu1345His) c.4037T>A (p.Leu1346His) c.3875T>A (p.Leu1292His) c.3908T>A (p.Leu1303His) | |
| 3 | g.38560356G>A | CA352147374 | SCN5A | c.4033C>T (p.Leu1345Phe) c.4036C>T (p.Leu1346Phe) c.3874C>T (p.Leu1292Phe) c.3907C>T (p.Leu1303Phe) | |
| 3 | g.38560356G>C | CA352147375 | SCN5A | c.4033C>G (p.Leu1345Val) c.4036C>G (p.Leu1346Val) c.3874C>G (p.Leu1292Val) c.3907C>G (p.Leu1303Val) | |
| 3 | g.38560356G= | CA1358565743 | SCN5A | c.4033C= (p.Leu1345=) c.4036C= (p.Leu1346=) c.3874C= (p.Leu1292=) c.3907C= (p.Leu1303=) |