Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.100292952C>A | CA5158677 | INVS | c.2695C>A (p.Arg899=) c.2185C>A (p.Arg729=) n.3004C>A c.2407C>A (p.Arg803=) c.2374C>A (p.Arg792=) c.1897C>A (p.Arg633=) c.1717C>A (p.Arg573=) n.2878C>A n.2902C>A n.2392C>A n.2844C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.100292952C>T | CA121813 | INVS | c.2695C>T (p.Arg899Ter) c.2185C>T (p.Arg729Ter) n.3004C>T c.2407C>T (p.Arg803Ter) c.2374C>T (p.Arg792Ter) c.1897C>T (p.Arg633Ter) c.1717C>T (p.Arg573Ter) n.2878C>T n.2902C>T n.2392C>T n.2844C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |