| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550671C>T | CA019426 | SCN5A | c.5698G>A (p.Glu1900Lys) c.5701G>A (p.Glu1901Lys) c.5647G>A (p.Glu1883Lys) c.5539G>A (p.Glu1847Lys) c.5602G>A (p.Glu1868Lys) c.5572G>A (p.Glu1858Lys) c.5644G>A (p.Glu1882Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550671C>G | CA019431 | SCN5A | c.5698G>C (p.Glu1900Gln) c.5701G>C (p.Glu1901Gln) c.5647G>C (p.Glu1883Gln) c.5539G>C (p.Glu1847Gln) c.5602G>C (p.Glu1868Gln) c.5572G>C (p.Glu1858Gln) c.5644G>C (p.Glu1882Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550671C>A | CA352140277 | SCN5A | c.5698G>T (p.Glu1900Ter) c.5701G>T (p.Glu1901Ter) c.5647G>T (p.Glu1883Ter) c.5539G>T (p.Glu1847Ter) c.5602G>T (p.Glu1868Ter) c.5572G>T (p.Glu1858Ter) c.5644G>T (p.Glu1882Ter) | dbSNP |