| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.31810495G>C | CA363376867 | HSPA1L | c.1478C>G (p.Thr493Arg) c.1670C>G (p.Thr557Arg) | dbSNP |
| 6 | g.31810495G>T | CA363376871 | HSPA1L | c.1478C>A (p.Thr493Lys) c.1670C>A (p.Thr557Lys) | ClinVar dbSNP |
| 6 | g.31810495G>A | CA3723894 | HSPA1L | c.1478C>T (p.Thr493Met) c.1670C>T (p.Thr557Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |