| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.2920334G>A | CA8872646 | LPIN2 | c.2650C>T (p.Arg884Ter) c.2546+444C>T (n.2546+444C>T) c.1685C>T (n.1685C>T) c.2761C>T (p.Arg921Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.2920334G>C | CA401693759 | LPIN2 | c.2650C>G (p.Arg884Gly) c.2546+444C>G (n.2546+444C>G) c.1685C>G (n.1685C>G) c.2761C>G (p.Arg921Gly) | dbSNP gnomAD v4 |
| 18 | g.2920334G= | CA2280787193 | LPIN2 | c.2650C= (p.Arg884=) c.2546+444C= (n.2546+444C=) c.1685C= (n.1685C=) c.2761C= (p.Arg921=) | dbSNP |