| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38562420_38562427dup | CA913188110 | SCN5A | c.3954_3960+1dup c.3957_3963+1dup c.3795_3801+1dup c.3828_3834+1dup | ClinVar dbSNP |
| 3 | g.38562422C>A | CA017654 | SCN5A | c.3953G>T (p.Gly1318Val) c.3956G>T (p.Gly1319Val) c.3794G>T (p.Gly1265Val) c.3827G>T (p.Gly1276Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38562422C= | CA1358566689 | SCN5A | c.3953G= (p.Gly1318=) c.3956G= (p.Gly1319=) c.3794G= (p.Gly1265=) c.3827G= (p.Gly1276=) | |
| 3 | g.38562422C>G | CA352148070 | SCN5A | c.3953G>C (p.Gly1318Ala) c.3956G>C (p.Gly1319Ala) c.3794G>C (p.Gly1265Ala) c.3827G>C (p.Gly1276Ala) | |
| 3 | g.38562422C>T | CA352148071 | SCN5A | c.3953G>A (p.Gly1318Asp) c.3956G>A (p.Gly1319Asp) c.3794G>A (p.Gly1265Asp) c.3827G>A (p.Gly1276Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38562423C>A | CA352148072 | SCN5A | c.3952G>T (p.Gly1318Cys) c.3955G>T (p.Gly1319Cys) c.3793G>T (p.Gly1265Cys) c.3826G>T (p.Gly1276Cys) | |
| 3 | g.38562423C= | CA1358566690 | SCN5A | c.3952G= (p.Gly1318=) c.3955G= (p.Gly1319=) c.3793G= (p.Gly1265=) c.3826G= (p.Gly1276=) | |
| 3 | g.38562423C>G | CA352148073 | SCN5A | c.3952G>C (p.Gly1318Arg) c.3955G>C (p.Gly1319Arg) c.3793G>C (p.Gly1265Arg) c.3826G>C (p.Gly1276Arg) | |
| 3 | g.38562423C>T | CA352148074 | SCN5A | c.3952G>A (p.Gly1318Ser) c.3955G>A (p.Gly1319Ser) c.3793G>A (p.Gly1265Ser) c.3826G>A (p.Gly1276Ser) | dbSNP |
| 3 | g.38562424C>A | CA352148075 | SCN5A | c.3951G>T (p.Glu1317Asp) c.3954G>T (p.Glu1318Asp) c.3792G>T (p.Glu1264Asp) c.3825G>T (p.Glu1275Asp) | |
| 3 | g.38562424C= | CA1358566691 | SCN5A | c.3951G= (p.Glu1317=) c.3954G= (p.Glu1318=) c.3792G= (p.Glu1264=) c.3825G= (p.Glu1275=) | |
| 3 | g.38562424C>G | CA352148076 | SCN5A | c.3951G>C (p.Glu1317Asp) c.3954G>C (p.Glu1318Asp) c.3792G>C (p.Glu1264Asp) c.3825G>C (p.Glu1275Asp) | |
| 3 | g.38562424C>T | CA062599 | SCN5A | c.3951G>A (p.Glu1317=) c.3954G>A (p.Glu1318=) c.3792G>A (p.Glu1264=) c.3825G>A (p.Glu1275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38562425T>A | CA352148078 | SCN5A | c.3950A>T (p.Glu1317Val) c.3953A>T (p.Glu1318Val) c.3791A>T (p.Glu1264Val) c.3824A>T (p.Glu1275Val) | |
| 3 | g.38562425T>C | CA352148077 | SCN5A | c.3950A>G (p.Glu1317Gly) c.3953A>G (p.Glu1318Gly) c.3791A>G (p.Glu1264Gly) c.3824A>G (p.Glu1275Gly) | gnomAD v4 |
| 3 | g.38562425T>G | CA352148079 | SCN5A | c.3950A>C (p.Glu1317Ala) c.3953A>C (p.Glu1318Ala) c.3791A>C (p.Glu1264Ala) c.3824A>C (p.Glu1275Ala) | |
| 3 | g.38562426C>A | CA352148080 | SCN5A | c.3949G>T (p.Glu1317Ter) c.3952G>T (p.Glu1318Ter) c.3790G>T (p.Glu1264Ter) c.3823G>T (p.Glu1275Ter) | ClinVar dbSNP |
| 3 | g.38562426C= | CA1358566692 | SCN5A | c.3949G= (p.Glu1317=) c.3952G= (p.Glu1318=) c.3790G= (p.Glu1264=) c.3823G= (p.Glu1275=) | |
| 3 | g.38562426C>G | CA352148081 | SCN5A | c.3949G>C (p.Glu1317Gln) c.3952G>C (p.Glu1318Gln) c.3790G>C (p.Glu1264Gln) c.3823G>C (p.Glu1275Gln) | |
| 3 | g.38562426C>T | CA352148082 | SCN5A | c.3949G>A (p.Glu1317Lys) c.3952G>A (p.Glu1318Lys) c.3790G>A (p.Glu1264Lys) c.3823G>A (p.Glu1275Lys) | |
| 3 | g.38562427A= | CA1358566693 | SCN5A | c.3948T= (p.Phe1316=) c.3951T= (p.Phe1317=) c.3789T= (p.Phe1263=) c.3822T= (p.Phe1274=) | |
| 3 | g.38562427A>C | CA352148083 | SCN5A | c.3948T>G (p.Phe1316Leu) c.3951T>G (p.Phe1317Leu) c.3789T>G (p.Phe1263Leu) c.3822T>G (p.Phe1274Leu) | |
| 3 | g.38562427A>G | CA062593 | SCN5A | c.3948T>C (p.Phe1316=) c.3951T>C (p.Phe1317=) c.3789T>C (p.Phe1263=) c.3822T>C (p.Phe1274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38562427A>T | CA352148084 | SCN5A | c.3948T>A (p.Phe1316Leu) c.3951T>A (p.Phe1317Leu) c.3789T>A (p.Phe1263Leu) c.3822T>A (p.Phe1274Leu) | |
| 3 | g.38562428A= | CA1358566694 | SCN5A | c.3947T= (p.Phe1316=) c.3950T= (p.Phe1317=) c.3788T= (p.Phe1263=) c.3821T= (p.Phe1274=) | |
| 3 | g.38562428A>C | CA062586 | SCN5A | c.3947T>G (p.Phe1316Cys) c.3950T>G (p.Phe1317Cys) c.3788T>G (p.Phe1263Cys) c.3821T>G (p.Phe1274Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38562428A>G | CA352148085 | SCN5A | c.3947T>C (p.Phe1316Ser) c.3950T>C (p.Phe1317Ser) c.3788T>C (p.Phe1263Ser) c.3821T>C (p.Phe1274Ser) | |
| 3 | g.38562428A>T | CA352148086 | SCN5A | c.3947T>A (p.Phe1316Tyr) c.3950T>A (p.Phe1317Tyr) c.3788T>A (p.Phe1263Tyr) c.3821T>A (p.Phe1274Tyr) | |
| 3 | g.38562429A= | CA1358566695 | SCN5A | c.3946T= (p.Phe1316=) c.3949T= (p.Phe1317=) c.3787T= (p.Phe1263=) c.3820T= (p.Phe1274=) | |
| 3 | g.38562429A>C | CA352148087 | SCN5A | c.3946T>G (p.Phe1316Val) c.3949T>G (p.Phe1317Val) c.3787T>G (p.Phe1263Val) c.3820T>G (p.Phe1274Val) | |
| 3 | g.38562429A>G | CA352148088 | SCN5A | c.3946T>C (p.Phe1316Leu) c.3949T>C (p.Phe1317Leu) c.3787T>C (p.Phe1263Leu) c.3820T>C (p.Phe1274Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38562429A>T | CA352148089 | SCN5A | c.3946T>A (p.Phe1316Ile) c.3949T>A (p.Phe1317Ile) c.3787T>A (p.Phe1263Ile) c.3820T>A (p.Phe1274Ile) | gnomAD v4 |
| 3 | g.38562430T>A | CA433136438 | SCN5A | c.3945A>T (p.Arg1315=) c.3948A>T (p.Arg1316=) c.3786A>T (p.Arg1262=) c.3819A>T (p.Arg1273=) | |
| 3 | g.38562430T>C | CA433136439 | SCN5A | c.3945A>G (p.Arg1315=) c.3948A>G (p.Arg1316=) c.3786A>G (p.Arg1262=) c.3819A>G (p.Arg1273=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38562430T>G | CA433136440 | SCN5A | c.3945A>C (p.Arg1315=) c.3948A>C (p.Arg1316=) c.3786A>C (p.Arg1262=) c.3819A>C (p.Arg1273=) | |
| 3 | g.38562430T= | CA1358566696 | SCN5A | c.3945A= (p.Arg1315=) c.3948A= (p.Arg1316=) c.3786A= (p.Arg1262=) c.3819A= (p.Arg1273=) | |
| 3 | g.38562431C>A | CA062580 | SCN5A | c.3944G>T (p.Arg1315Leu) c.3947G>T (p.Arg1316Leu) c.3785G>T (p.Arg1262Leu) c.3818G>T (p.Arg1273Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38562431C= | CA1358566697 | SCN5A | c.3944G= (p.Arg1315=) c.3947G= (p.Arg1316=) c.3785G= (p.Arg1262=) c.3818G= (p.Arg1273=) | |
| 3 | g.38562431C>G | CA352148090 | SCN5A | c.3944G>C (p.Arg1315Pro) c.3947G>C (p.Arg1316Pro) c.3785G>C (p.Arg1262Pro) c.3818G>C (p.Arg1273Pro) | ClinVar dbSNP |
| 3 | g.38562431C>T | CA062577 | SCN5A | c.3944G>A (p.Arg1315Gln) c.3947G>A (p.Arg1316Gln) c.3785G>A (p.Arg1262Gln) c.3818G>A (p.Arg1273Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38562432G>A | CA352148091 | SCN5A | c.3943C>T (p.Arg1315Ter) c.3946C>T (p.Arg1316Ter) c.3784C>T (p.Arg1262Ter) c.3817C>T (p.Arg1273Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38562432G>C | CA352148092 | SCN5A | c.3943C>G (p.Arg1315Gly) c.3946C>G (p.Arg1316Gly) c.3784C>G (p.Arg1262Gly) c.3817C>G (p.Arg1273Gly) | |
| 3 | g.38562432G= | CA1358566698 | SCN5A | c.3943C= (p.Arg1315=) c.3946C= (p.Arg1316=) c.3784C= (p.Arg1262=) c.3817C= (p.Arg1273=) | |
| 3 | g.38562432G>T | CA433136441 | SCN5A | c.3943C>A (p.Arg1315=) c.3946C>A (p.Arg1316=) c.3784C>A (p.Arg1262=) c.3817C>A (p.Arg1273=) | |
| 3 | g.38562433T>A | CA062572 | SCN5A | c.3942A>T (p.Ser1314=) c.3945A>T (p.Ser1315=) c.3783A>T (p.Ser1261=) c.3816A>T (p.Ser1272=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38562433T>C | CA433136442 | SCN5A | c.3942A>G (p.Ser1314=) c.3945A>G (p.Ser1315=) c.3783A>G (p.Ser1261=) c.3816A>G (p.Ser1272=) | |
| 3 | g.38562433T>G | CA433136443 | SCN5A | c.3942A>C (p.Ser1314=) c.3945A>C (p.Ser1315=) c.3783A>C (p.Ser1261=) c.3816A>C (p.Ser1272=) | |
| 3 | g.38562433T= | CA1358566699 | SCN5A | c.3942A= (p.Ser1314=) c.3945A= (p.Ser1315=) c.3783A= (p.Ser1261=) c.3816A= (p.Ser1272=) | |
| 3 | g.38562434G>A | CA352148093 | SCN5A | c.3941C>T (p.Ser1314Leu) c.3944C>T (p.Ser1315Leu) c.3782C>T (p.Ser1261Leu) c.3815C>T (p.Ser1272Leu) | |
| 3 | g.38562434G>C | CA352148094 | SCN5A | c.3941C>G (p.Ser1314Ter) c.3944C>G (p.Ser1315Ter) c.3782C>G (p.Ser1261Ter) c.3815C>G (p.Ser1272Ter) | gnomAD v4 |