| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.96159254A>G | CA5622892 | ZNF518A | c.2932A>G (p.Met978Val) n.35+3207A>G n.3763A>G n.225+25606A>G c.1342A>G (p.Met448Val) n.429+25606A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.96159254A>T | CA377728521 | ZNF518A | c.2932A>T (p.Met978Leu) n.35+3207A>T n.3763A>T n.225+25606A>T c.1342A>T (p.Met448Leu) n.429+25606A>T | dbSNP |
| 10 | g.96159254A= | CA1929844539 | ZNF518A | c.2932A= (p.Met978=) n.35+3207A= n.3763A= n.225+25606A= c.1342A= (p.Met448=) n.429+25606A= | dbSNP |