| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38560357_38560368del | CA2755901968 | SCN5A | c.4030_4041del (p.Trp1344_Phe1347del) c.4033_4044del (p.Trp1345_Phe1348del) c.3871_3882del (p.Trp1291_Phe1294del) c.3904_3915del (p.Trp1302_Phe1305del) | |
| 3 | g.38560362A= | CA1358565747 | SCN5A | c.4027T= (p.Phe1343=) c.4030T= (p.Phe1344=) c.3868T= (p.Phe1290=) c.3901T= (p.Phe1301=) | |
| 3 | g.38560362A>C | CA352147412 | SCN5A | c.4027T>G (p.Phe1343Val) c.4030T>G (p.Phe1344Val) c.3868T>G (p.Phe1290Val) c.3901T>G (p.Phe1301Val) | |
| 3 | g.38560362A>G | CA017772 | SCN5A | c.4027T>C (p.Phe1343Leu) c.4030T>C (p.Phe1344Leu) c.3868T>C (p.Phe1290Leu) c.3901T>C (p.Phe1301Leu) | ClinVar dbSNP |
| 3 | g.38560362A>T | CA352147414 | SCN5A | c.4027T>A (p.Phe1343Ile) c.4030T>A (p.Phe1344Ile) c.3868T>A (p.Phe1290Ile) c.3901T>A (p.Phe1301Ile) | gnomAD v4 |
| 3 | g.38560363G>A | CA433332473 | SCN5A | c.4026C>T (p.Ile1342=) c.4029C>T (p.Ile1343=) c.3867C>T (p.Ile1289=) c.3900C>T (p.Ile1300=) | |
| 3 | g.38560363G>C | CA352147416 | SCN5A | c.4026C>G (p.Ile1342Met) c.4029C>G (p.Ile1343Met) c.3867C>G (p.Ile1289Met) c.3900C>G (p.Ile1300Met) | |
| 3 | g.38560363G>T | CA433332474 | SCN5A | c.4026C>A (p.Ile1342=) c.4029C>A (p.Ile1343=) c.3867C>A (p.Ile1289=) c.3900C>A (p.Ile1300=) | ClinVar |
| 3 | g.38560364A>C | CA352147418 | SCN5A | c.4025T>G (p.Ile1342Ser) c.4028T>G (p.Ile1343Ser) c.3866T>G (p.Ile1289Ser) c.3899T>G (p.Ile1300Ser) | |
| 3 | g.38560364A>G | CA352147421 | SCN5A | c.4025T>C (p.Ile1342Thr) c.4028T>C (p.Ile1343Thr) c.3866T>C (p.Ile1289Thr) c.3899T>C (p.Ile1300Thr) | |
| 3 | g.38560364A>T | CA352147423 | SCN5A | c.4025T>A (p.Ile1342Asn) c.4028T>A (p.Ile1343Asn) c.3866T>A (p.Ile1289Asn) c.3899T>A (p.Ile1300Asn) | |
| 3 | g.38560365T>A | CA352147427 | SCN5A | c.4024A>T (p.Ile1342Phe) c.4027A>T (p.Ile1343Phe) c.3865A>T (p.Ile1289Phe) c.3898A>T (p.Ile1300Phe) | |
| 3 | g.38560365T>C | CA352147425 | SCN5A | c.4024A>G (p.Ile1342Val) c.4027A>G (p.Ile1343Val) c.3865A>G (p.Ile1289Val) c.3898A>G (p.Ile1300Val) | |
| 3 | g.38560365T>G | CA352147424 | SCN5A | c.4024A>C (p.Ile1342Leu) c.4027A>C (p.Ile1343Leu) c.3865A>C (p.Ile1289Leu) c.3898A>C (p.Ile1300Leu) | |
| 3 | g.38560366G>A | CA433332475 | SCN5A | c.4023C>T (p.Leu1341=) c.4026C>T (p.Leu1342=) c.3864C>T (p.Leu1288=) c.3897C>T (p.Leu1299=) | gnomAD v4 |
| 3 | g.38560366G>C | CA433332476 | SCN5A | c.4023C>G (p.Leu1341=) c.4026C>G (p.Leu1342=) c.3864C>G (p.Leu1288=) c.3897C>G (p.Leu1299=) | |
| 3 | g.38560366G>T | CA433332477 | SCN5A | c.4023C>A (p.Leu1341=) c.4026C>A (p.Leu1342=) c.3864C>A (p.Leu1288=) c.3897C>A (p.Leu1299=) | |
| 3 | g.38560367A>C | CA352147429 | SCN5A | c.4022T>G (p.Leu1341Arg) c.4025T>G (p.Leu1342Arg) c.3863T>G (p.Leu1288Arg) c.3896T>G (p.Leu1299Arg) | |
| 3 | g.38560367A>G | CA352147431 | SCN5A | c.4022T>C (p.Leu1341Pro) c.4025T>C (p.Leu1342Pro) c.3863T>C (p.Leu1288Pro) c.3896T>C (p.Leu1299Pro) | |
| 3 | g.38560367A>T | CA352147432 | SCN5A | c.4022T>A (p.Leu1341His) c.4025T>A (p.Leu1342His) c.3863T>A (p.Leu1288His) c.3896T>A (p.Leu1299His) | |
| 3 | g.38560368G>A | CA16611264 | SCN5A | c.4021C>T (p.Leu1341Phe) c.4024C>T (p.Leu1342Phe) c.3862C>T (p.Leu1288Phe) c.3895C>T (p.Leu1299Phe) | ClinVar dbSNP |
| 3 | g.38560368G>C | CA352147435 | SCN5A | c.4021C>G (p.Leu1341Val) c.4024C>G (p.Leu1342Val) c.3862C>G (p.Leu1288Val) c.3895C>G (p.Leu1299Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38560368G= | CA1358565748 | SCN5A | c.4021C= (p.Leu1341=) c.4024C= (p.Leu1342=) c.3862C= (p.Leu1288=) c.3895C= (p.Leu1299=) | |
| 3 | g.38560368G>T | CA352147438 | SCN5A | c.4021C>A (p.Leu1341Ile) c.4024C>A (p.Leu1342Ile) c.3862C>A (p.Leu1288Ile) c.3895C>A (p.Leu1299Ile) | |
| 3 | g.38560369G>A | CA433332478 | SCN5A | c.4020C>T (p.Cys1340=) c.4023C>T (p.Cys1341=) c.3861C>T (p.Cys1287=) c.3894C>T (p.Cys1298=) | |
| 3 | g.38560369G>C | CA352147439 | SCN5A | c.4020C>G (p.Cys1340Trp) c.4023C>G (p.Cys1341Trp) c.3861C>G (p.Cys1287Trp) c.3894C>G (p.Cys1298Trp) | |
| 3 | g.38560369G= | CA1358565749 | SCN5A | c.4020C= (p.Cys1340=) c.4023C= (p.Cys1341=) c.3861C= (p.Cys1287=) c.3894C= (p.Cys1298=) | |
| 3 | g.38560369G>T | CA352147440 | SCN5A | c.4020C>A (p.Cys1340Ter) c.4023C>A (p.Cys1341Ter) c.3861C>A (p.Cys1287Ter) c.3894C>A (p.Cys1298Ter) | dbSNP |
| 3 | g.38560370C>A | CA352147442 | SCN5A | c.4019G>T (p.Cys1340Phe) c.4022G>T (p.Cys1341Phe) c.3860G>T (p.Cys1287Phe) c.3893G>T (p.Cys1298Phe) | |
| 3 | g.38560370C>G | CA352147443 | SCN5A | c.4019G>C (p.Cys1340Ser) c.4022G>C (p.Cys1341Ser) c.3860G>C (p.Cys1287Ser) c.3893G>C (p.Cys1298Ser) | |
| 3 | g.38560370C>T | CA352147444 | SCN5A | c.4019G>A (p.Cys1340Tyr) c.4022G>A (p.Cys1341Tyr) c.3860G>A (p.Cys1287Tyr) c.3893G>A (p.Cys1298Tyr) | |
| 3 | g.38560371A>C | CA352147449 | SCN5A | c.4018T>G (p.Cys1340Gly) c.4021T>G (p.Cys1341Gly) c.3859T>G (p.Cys1287Gly) c.3892T>G (p.Cys1298Gly) | |
| 3 | g.38560371A>G | CA352147447 | SCN5A | c.4018T>C (p.Cys1340Arg) c.4021T>C (p.Cys1341Arg) c.3859T>C (p.Cys1287Arg) c.3892T>C (p.Cys1298Arg) | ClinVar dbSNP |
| 3 | g.38560371A>T | CA352147446 | SCN5A | c.4018T>A (p.Cys1340Ser) c.4021T>A (p.Cys1341Ser) c.3859T>A (p.Cys1287Ser) c.3892T>A (p.Cys1298Ser) | |
| 3 | g.38560372G>A | CA433332480 | SCN5A | c.4017C>T (p.Val1339=) c.4020C>T (p.Val1340=) c.3858C>T (p.Val1286=) c.3891C>T (p.Val1297=) | |
| 3 | g.38560372G>C | CA433332481 | SCN5A | c.4017C>G (p.Val1339=) c.4020C>G (p.Val1340=) c.3858C>G (p.Val1286=) c.3891C>G (p.Val1297=) | |
| 3 | g.38560372G>T | CA433332479 | SCN5A | c.4017C>A (p.Val1339=) c.4020C>A (p.Val1340=) c.3858C>A (p.Val1286=) c.3891C>A (p.Val1297=) | |
| 3 | g.38560373A>C | CA352147451 | SCN5A | c.4016T>G (p.Val1339Gly) c.4019T>G (p.Val1340Gly) c.3857T>G (p.Val1286Gly) c.3890T>G (p.Val1297Gly) | |
| 3 | g.38560373A>G | CA352147453 | SCN5A | c.4016T>C (p.Val1339Ala) c.4019T>C (p.Val1340Ala) c.3857T>C (p.Val1286Ala) c.3890T>C (p.Val1297Ala) | |
| 3 | g.38560373A>T | CA352147455 | SCN5A | c.4016T>A (p.Val1339Asp) c.4019T>A (p.Val1340Asp) c.3857T>A (p.Val1286Asp) c.3890T>A (p.Val1297Asp) | |
| 3 | g.38560374C>A | CA352147457 | SCN5A | c.4015G>T (p.Val1339Phe) c.4018G>T (p.Val1340Phe) c.3856G>T (p.Val1286Phe) c.3889G>T (p.Val1297Phe) | |
| 3 | g.38560374C= | CA1358565751 | SCN5A | c.4015G= (p.Val1339=) c.4018G= (p.Val1340=) c.3856G= (p.Val1286=) c.3889G= (p.Val1297=) | |
| 3 | g.38560374C>G | CA10587574 | SCN5A | c.4015G>C (p.Val1339Leu) c.4018G>C (p.Val1340Leu) c.3856G>C (p.Val1286Leu) c.3889G>C (p.Val1297Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38560374C>T | CA017761 | SCN5A | c.4015G>A (p.Val1339Ile) c.4018G>A (p.Val1340Ile) c.3856G>A (p.Val1286Ile) c.3889G>A (p.Val1297Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38560374_38560377delinsCGAG | CA1358565750 | SCN5A | c.4012_4015delinsCTCG (p.Leu1338=) c.4015_4018delinsCTCG (p.Leu1339=) c.3853_3856delinsCTCG (p.Leu1285=) c.3886_3889delinsCTCG (p.Leu1296=) | |
| 3 | g.38560375G>A | CA72944906 | SCN5A | c.4014C>T (p.Leu1338=) c.4017C>T (p.Leu1339=) c.3855C>T (p.Leu1285=) c.3888C>T (p.Leu1296=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38560375G>C | CA433332482 | SCN5A | c.4014C>G (p.Leu1338=) c.4017C>G (p.Leu1339=) c.3855C>G (p.Leu1285=) c.3888C>G (p.Leu1296=) | |
| 3 | g.38560375G= | CA1358565752 | SCN5A | c.4014C= (p.Leu1338=) c.4017C= (p.Leu1339=) c.3855C= (p.Leu1285=) c.3888C= (p.Leu1296=) | |
| 3 | g.38560375G>T | CA433332483 | SCN5A | c.4014C>A (p.Leu1338=) c.4017C>A (p.Leu1339=) c.3855C>A (p.Leu1285=) c.3888C>A (p.Leu1296=) | |
| 3 | g.38560380_38560382del | CA542615541 | SCN5A | c.4012_4014del (p.Leu1338del) c.4015_4017del (p.Leu1339del) c.3853_3855del (p.Leu1285del) c.3886_3888del (p.Leu1296del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |