Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.10405626A>G | CA408231128 | MKKS | c.1334T>C (p.Leu445Ser) n.978T>C n.712T>C n.695T>C | ClinVar dbSNP |
20 | g.10405626A>C | CA10654836 | MKKS | c.1334T>G (p.Leu445Ter) n.978T>G n.712T>G n.695T>G | ClinVar dbSNP |