Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35032595del | CA16620822 | SCN1B | c.108del (p.Phe36LeufsTer?) c.9del (p.Phe3LeufsTer?) n.117del | ClinVar dbSNP |
19 | g.35032595C= | CA3233783956 | SCN1B | c.108C= (p.Phe36=) c.9C= (p.Phe3=) n.117C= | dbSNP dbSNP |