| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38603840_38603846delinsGGAGGGC | CA1358584917 | SCN5A | c.1756_1762delinsGCCCTCC (p.Ala586=) c.1627_1633delinsGCCCTCC (p.Ala543=) | |
| 3 | g.38603842_38603847del | CA354278 | SCN5A | c.1756_1761del (p.Ala586_Leu587del) c.1627_1632del (p.Ala543_Leu544del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603846C>A | CA352146325 | SCN5A | c.1756G>T (p.Ala586Ser) c.1627G>T (p.Ala543Ser) | |
| 3 | g.38603846C= | CA1358584921 | SCN5A | c.1756G= (p.Ala586=) c.1627G= (p.Ala543=) | |
| 3 | g.38603846C>G | CA352146326 | SCN5A | c.1756G>C (p.Ala586Pro) c.1627G>C (p.Ala543Pro) | |
| 3 | g.38603846C>T | CA015347 | SCN5A | c.1756G>A (p.Ala586Thr) c.1627G>A (p.Ala543Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603847G>A | CA015323 | SCN5A | c.1755C>T (p.His585=) c.1626C>T (p.His542=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38603847G>C | CA352146332 | SCN5A | c.1755C>G (p.His585Gln) c.1626C>G (p.His542Gln) | gnomAD v4 |
| 3 | g.38603847G= | CA1358584922 | SCN5A | c.1755C= (p.His585=) c.1626C= (p.His542=) | |
| 3 | g.38603847G>T | CA352146330 | SCN5A | c.1755C>A (p.His585Gln) c.1626C>A (p.His542Gln) | |
| 3 | g.38603848T>A | CA352146335 | SCN5A | c.1754A>T (p.His585Leu) c.1625A>T (p.His542Leu) | |
| 3 | g.38603848T>C | CA352146338 | SCN5A | c.1754A>G (p.His585Arg) c.1625A>G (p.His542Arg) | |
| 3 | g.38603848T>G | CA352146337 | SCN5A | c.1754A>C (p.His585Pro) c.1625A>C (p.His542Pro) | |
| 3 | g.38603848_38603849delinsTG | CA1358584923 | SCN5A | c.1753_1754delinsCA (p.His585=) c.1624_1625delinsCA (p.His542=) | |
| 3 | g.38603849G>A | CA352146342 | SCN5A | c.1753C>T (p.His585Tyr) c.1624C>T (p.His542Tyr) | gnomAD v4 |
| 3 | g.38603849G>C | CA352146345 | SCN5A | c.1753C>G (p.His585Asp) c.1624C>G (p.His542Asp) | |
| 3 | g.38603849G>T | CA352146347 | SCN5A | c.1753C>A (p.His585Asn) c.1624C>A (p.His542Asn) | |
| 3 | g.38603850del | CA015310 | SCN5A | c.1753del (p.His585ThrfsTer?) c.1624del (p.His542ThrfsTer?) | ClinVar dbSNP |
| 3 | g.38603850G>A | CA433332993 | SCN5A | c.1752C>T (p.Gly584=) c.1623C>T (p.Gly541=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38603850G>C | CA433332987 | SCN5A | c.1752C>G (p.Gly584=) c.1623C>G (p.Gly541=) | ClinVar dbSNP |
| 3 | g.38603850G= | CA1358584924 | SCN5A | c.1752C= (p.Gly584=) c.1623C= (p.Gly541=) | |
| 3 | g.38603850G>T | CA433332990 | SCN5A | c.1752C>A (p.Gly584=) c.1623C>A (p.Gly541=) | |
| 3 | g.38603851C>A | CA352146349 | SCN5A | c.1751G>T (p.Gly584Val) c.1622G>T (p.Gly541Val) | |
| 3 | g.38603851C>G | CA352146351 | SCN5A | c.1751G>C (p.Gly584Ala) c.1622G>C (p.Gly541Ala) | |
| 3 | g.38603851C>T | CA352146354 | SCN5A | c.1751G>A (p.Gly584Asp) c.1622G>A (p.Gly541Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38603852C>A | CA352146357 | SCN5A | c.1750G>T (p.Gly584Cys) c.1621G>T (p.Gly541Cys) | gnomAD v4 |
| 3 | g.38603852C= | CA1358584925 | SCN5A | c.1750G= (p.Gly584=) c.1621G= (p.Gly541=) | |
| 3 | g.38603852C>G | CA058722 | SCN5A | c.1750G>C (p.Gly584Arg) c.1621G>C (p.Gly541Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603852C>T | CA352146360 | SCN5A | c.1750G>A (p.Gly584Ser) c.1621G>A (p.Gly541Ser) | |
| 3 | g.38603853A>C | CA433332998 | SCN5A | c.1749T>G (p.Pro583=) c.1620T>G (p.Pro540=) | |
| 3 | g.38603853A>G | CA433333000 | SCN5A | c.1749T>C (p.Pro583=) c.1620T>C (p.Pro540=) | |
| 3 | g.38603853A>T | CA433333004 | SCN5A | c.1749T>A (p.Pro583=) c.1620T>A (p.Pro540=) | |
| 3 | g.38603854G>A | CA352146362 | SCN5A | c.1748C>T (p.Pro583Leu) c.1619C>T (p.Pro540Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38603854G>C | CA352146363 | SCN5A | c.1748C>G (p.Pro583Arg) c.1619C>G (p.Pro540Arg) | |
| 3 | g.38603854G= | CA1358584926 | SCN5A | c.1748C= (p.Pro583=) c.1619C= (p.Pro540=) | |
| 3 | g.38603854G>T | CA352146365 | SCN5A | c.1748C>A (p.Pro583His) c.1619C>A (p.Pro540His) | |
| 3 | g.38603855G>A | CA352146370 | SCN5A | c.1747C>T (p.Pro583Ser) c.1618C>T (p.Pro540Ser) | COSMIC COSMIC COSMIC |
| 3 | g.38603855G>C | CA352146369 | SCN5A | c.1747C>G (p.Pro583Ala) c.1618C>G (p.Pro540Ala) | |
| 3 | g.38603855G>T | CA352146368 | SCN5A | c.1747C>A (p.Pro583Thr) c.1618C>A (p.Pro540Thr) | |
| 3 | g.38603856A>C | CA433333009 | SCN5A | c.1746T>G (p.Ala582=) c.1617T>G (p.Ala539=) | |
| 3 | g.38603856A>G | CA433333008 | SCN5A | c.1746T>C (p.Ala582=) c.1617T>C (p.Ala539=) | |
| 3 | g.38603856A>T | CA433333014 | SCN5A | c.1746T>A (p.Ala582=) c.1617T>A (p.Ala539=) | |
| 3 | g.38603857G>A | CA352146371 | SCN5A | c.1745C>T (p.Ala582Val) c.1616C>T (p.Ala539Val) | |
| 3 | g.38603857G>C | CA352146372 | SCN5A | c.1745C>G (p.Ala582Gly) c.1616C>G (p.Ala539Gly) | dbSNP |
| 3 | g.38603857G= | CA1358584927 | SCN5A | c.1745C= (p.Ala582=) c.1616C= (p.Ala539=) | |
| 3 | g.38603857G>T | CA352146375 | SCN5A | c.1745C>A (p.Ala582Asp) c.1616C>A (p.Ala539Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38603858C>A | CA352146376 | SCN5A | c.1744G>T (p.Ala582Ser) c.1615G>T (p.Ala539Ser) | |
| 3 | g.38603858C>G | CA352146377 | SCN5A | c.1744G>C (p.Ala582Pro) c.1615G>C (p.Ala539Pro) | |
| 3 | g.38603858C>T | CA352146378 | SCN5A | c.1744G>A (p.Ala582Thr) c.1615G>A (p.Ala539Thr) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38603859C>A | CA058709 | SCN5A | c.1743G>T (p.Ser581=) c.1614G>T (p.Ser538=) | dbSNP ExAC gnomAD v2 gnomAD v4 |