| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.110603902C>T | CA10602728 | KCNA2 | c.881G>A (p.Arg294His) n.361+1489G>A c.119G>A (p.Arg40His) n.649G>A c.299G>A (p.Arg100His) n.989G>A n.459+1489G>A c.515G>A (p.Arg172His) | ClinVar dbSNP |
| 1 | g.110603902C>A | CA341602929 | KCNA2 | c.881G>T (p.Arg294Leu) n.361+1489G>T c.119G>T (p.Arg40Leu) n.649G>T c.299G>T (p.Arg100Leu) n.989G>T n.459+1489G>T c.515G>T (p.Arg172Leu) | dbSNP COSMIC |
| 1 | g.110603902C= | CA1188577472 | KCNA2 | c.881G= (p.Arg294=) n.361+1489G= c.119G= (p.Arg40=) n.649G= c.299G= (p.Arg100=) n.989G= n.459+1489G= c.515G= (p.Arg172=) | dbSNP |
| 1 | g.110603902C>G | CA341602931 | KCNA2 | c.881G>C (p.Arg294Pro) n.361+1489G>C c.119G>C (p.Arg40Pro) n.649G>C c.299G>C (p.Arg100Pro) n.989G>C n.459+1489G>C c.515G>C (p.Arg172Pro) | ClinVar dbSNP |