Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38605953C>A | CA352148309 | SCN5A | c.1336G>T (p.Glu446Ter) c.1207G>T (p.Glu403Ter) | dbSNP COSMIC COSMIC COSMIC |
3 | g.38605953C>T | CA014706 | SCN5A | c.1336G>A (p.Glu446Lys) c.1207G>A (p.Glu403Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38605953C>G | CA352148310 | SCN5A | c.1336G>C (p.Glu446Gln) c.1207G>C (p.Glu403Gln) | ClinVar dbSNP |