| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550602C>T | CA019460 | SCN5A | c.5767G>A (p.Ala1923Thr) c.5770G>A (p.Ala1924Thr) c.5716G>A (p.Ala1906Thr) c.5608G>A (p.Ala1870Thr) c.5671G>A (p.Ala1891Thr) c.5641G>A (p.Ala1881Thr) c.5713G>A (p.Ala1905Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550602C>G | CA352140011 | SCN5A | c.5767G>C (p.Ala1923Pro) c.5770G>C (p.Ala1924Pro) c.5716G>C (p.Ala1906Pro) c.5608G>C (p.Ala1870Pro) c.5671G>C (p.Ala1891Pro) c.5641G>C (p.Ala1881Pro) c.5713G>C (p.Ala1905Pro) | dbSNP |
| 3 | g.38550602C= | CA1358556190 | SCN5A | c.5767G= (p.Ala1923=) c.5770G= (p.Ala1924=) c.5716G= (p.Ala1906=) c.5608G= (p.Ala1870=) c.5671G= (p.Ala1891=) c.5641G= (p.Ala1881=) c.5713G= (p.Ala1905=) | dbSNP |
| 3 | g.38550602C>A | CA352140012 | SCN5A | c.5767G>T (p.Ala1923Ser) c.5770G>T (p.Ala1924Ser) c.5716G>T (p.Ala1906Ser) c.5608G>T (p.Ala1870Ser) c.5671G>T (p.Ala1891Ser) c.5641G>T (p.Ala1881Ser) c.5713G>T (p.Ala1905Ser) | ClinVar dbSNP |