| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38605980_38605987del | CA2580069739 | SCN5A | c.1305_1312del (p.Gln435HisfsTer22) c.1176_1183del (p.Gln392HisfsTer22) | ClinVar |
| 3 | g.38605978G>A | CA433137527 | SCN5A | c.1311C>T (p.Ala437=) c.1182C>T (p.Ala394=) | |
| 3 | g.38605978G>C | CA433137528 | SCN5A | c.1311C>G (p.Ala437=) c.1182C>G (p.Ala394=) | |
| 3 | g.38605978G>T | CA433137529 | SCN5A | c.1311C>A (p.Ala437=) c.1182C>A (p.Ala394=) | |
| 3 | g.38605979G>A | CA057504 | SCN5A | c.1310C>T (p.Ala437Val) c.1181C>T (p.Ala394Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38605979G>C | CA352148407 | SCN5A | c.1310C>G (p.Ala437Gly) c.1181C>G (p.Ala394Gly) | |
| 3 | g.38605979G= | CA1358585923 | SCN5A | c.1310C= (p.Ala437=) c.1181C= (p.Ala394=) | |
| 3 | g.38605979G>T | CA352148405 | SCN5A | c.1310C>A (p.Ala437Asp) c.1181C>A (p.Ala394Asp) | |
| 3 | g.38605980C>A | CA352148413 | SCN5A | c.1309G>T (p.Ala437Ser) c.1180G>T (p.Ala394Ser) | |
| 3 | g.38605980C= | CA1358585924 | SCN5A | c.1309G= (p.Ala437=) c.1180G= (p.Ala394=) | |
| 3 | g.38605980C>G | CA352148410 | SCN5A | c.1309G>C (p.Ala437Pro) c.1180G>C (p.Ala394Pro) | |
| 3 | g.38605980C>T | CA352148412 | SCN5A | c.1309G>A (p.Ala437Thr) c.1180G>A (p.Ala394Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38605981C>A | CA352148415 | SCN5A | c.1308G>T (p.Glu436Asp) c.1179G>T (p.Glu393Asp) | |
| 3 | g.38605981C= | CA1358585925 | SCN5A | c.1308G= (p.Glu436=) c.1179G= (p.Glu393=) | |
| 3 | g.38605981C>G | CA352148416 | SCN5A | c.1308G>C (p.Glu436Asp) c.1179G>C (p.Glu393Asp) | |
| 3 | g.38605981C>T | CA057493 | SCN5A | c.1308G>A (p.Glu436=) c.1179G>A (p.Glu393=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38605982T>A | CA352148419 | SCN5A | c.1307A>T (p.Glu436Val) c.1178A>T (p.Glu393Val) | |
| 3 | g.38605982T>C | CA352148421 | SCN5A | c.1307A>G (p.Glu436Gly) c.1178A>G (p.Glu393Gly) | |
| 3 | g.38605982T>G | CA352148423 | SCN5A | c.1307A>C (p.Glu436Ala) c.1178A>C (p.Glu393Ala) | |
| 3 | g.38605983C>A | CA352148425 | SCN5A | c.1306G>T (p.Glu436Ter) c.1177G>T (p.Glu393Ter) | dbSNP |
| 3 | g.38605983C= | CA1358585926 | SCN5A | c.1306G= (p.Glu436=) c.1177G= (p.Glu393=) | |
| 3 | g.38605983C>G | CA352148426 | SCN5A | c.1306G>C (p.Glu436Gln) c.1177G>C (p.Glu393Gln) | |
| 3 | g.38605983C>T | CA352148428 | SCN5A | c.1306G>A (p.Glu436Lys) c.1177G>A (p.Glu393Lys) | dbSNP gnomAD v4 |
| 3 | g.38605984C>A | CA352148430 | SCN5A | c.1305G>T (p.Gln435His) c.1176G>T (p.Gln392His) | |
| 3 | g.38605984C>G | CA352148431 | SCN5A | c.1305G>C (p.Gln435His) c.1176G>C (p.Gln392His) | |
| 3 | g.38605984C>T | CA433137535 | SCN5A | c.1305G>A (p.Gln435=) c.1176G>A (p.Gln392=) | |
| 3 | g.38605985T>A | CA352148436 | SCN5A | c.1304A>T (p.Gln435Leu) c.1175A>T (p.Gln392Leu) | |
| 3 | g.38605985T>C | CA352148434 | SCN5A | c.1304A>G (p.Gln435Arg) c.1175A>G (p.Gln392Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38605985T>G | CA352148432 | SCN5A | c.1304A>C (p.Gln435Pro) c.1175A>C (p.Gln392Pro) | |
| 3 | g.38605985T= | CA1358585927 | SCN5A | c.1304A= (p.Gln435=) c.1175A= (p.Gln392=) | |
| 3 | g.38605986G>A | CA72940317 | SCN5A | c.1303C>T (p.Gln435Ter) c.1174C>T (p.Gln392Ter) | dbSNP gnomAD v4 |
| 3 | g.38605986G>C | CA352148439 | SCN5A | c.1303C>G (p.Gln435Glu) c.1174C>G (p.Gln392Glu) | |
| 3 | g.38605986G= | CA1358585928 | SCN5A | c.1303C= (p.Gln435=) c.1174C= (p.Gln392=) | |
| 3 | g.38605986G>T | CA352148441 | SCN5A | c.1303C>A (p.Gln435Lys) c.1174C>A (p.Gln392Lys) | |
| 3 | g.38605987G>A | CA014675 | SCN5A | c.1302C>T (p.Phe434=) c.1173C>T (p.Phe391=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38605987G>C | CA352148443 | SCN5A | c.1302C>G (p.Phe434Leu) c.1173C>G (p.Phe391Leu) | |
| 3 | g.38605987G= | CA1358585929 | SCN5A | c.1302C= (p.Phe434=) c.1173C= (p.Phe391=) | |
| 3 | g.38605987G>T | CA352148445 | SCN5A | c.1302C>A (p.Phe434Leu) c.1173C>A (p.Phe391Leu) | |
| 3 | g.38605988A>C | CA352148446 | SCN5A | c.1301T>G (p.Phe434Cys) c.1172T>G (p.Phe391Cys) | |
| 3 | g.38605988A>G | CA352148448 | SCN5A | c.1301T>C (p.Phe434Ser) c.1172T>C (p.Phe391Ser) | |
| 3 | g.38605988A>T | CA352148449 | SCN5A | c.1301T>A (p.Phe434Tyr) c.1172T>A (p.Phe391Tyr) | |
| 3 | g.38605989A= | CA1358585930 | SCN5A | c.1300T= (p.Phe434=) c.1171T= (p.Phe391=) | |
| 3 | g.38605989A>C | CA352148451 | SCN5A | c.1300T>G (p.Phe434Val) c.1171T>G (p.Phe391Val) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38605989A>G | CA352148453 | SCN5A | c.1300T>C (p.Phe434Leu) c.1171T>C (p.Phe391Leu) | |
| 3 | g.38605989A>T | CA352148455 | SCN5A | c.1300T>A (p.Phe434Ile) c.1171T>A (p.Phe391Ile) | |
| 3 | g.38605990G>A | CA057477 | SCN5A | c.1299C>T (p.Arg433=) c.1170C>T (p.Arg390=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38605990G>C | CA433137538 | SCN5A | c.1299C>G (p.Arg433=) c.1170C>G (p.Arg390=) | |
| 3 | g.38605990G= | CA1358585931 | SCN5A | c.1299C= (p.Arg433=) c.1170C= (p.Arg390=) | |
| 3 | g.38605990G>T | CA433137539 | SCN5A | c.1299C>A (p.Arg433=) c.1170C>A (p.Arg390=) | |
| 3 | g.38605991C>A | CA352148459 | SCN5A | c.1298G>T (p.Arg433Leu) c.1169G>T (p.Arg390Leu) | gnomAD v4 |