| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.169477447C>T | CA253658 | SLC19A2 | c.515G>A (p.Gly172Asp) c.205-7261G>A (n.205-7261G>A) c.323G>A (p.Gly108Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169477447C>A | CA343110319 | SLC19A2 | c.515G>T (p.Gly172Val) c.205-7261G>T (n.205-7261G>T) c.323G>T (p.Gly108Val) | dbSNP gnomAD v2 gnomAD v4 |