| 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) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169477447C>G | CA343110320 | SLC19A2 | c.515G>C (p.Gly172Ala) c.205-7261G>C (n.205-7261G>C) c.323G>C (p.Gly108Ala) | dbSNP |
| 1 | g.169477447C= | CA1140495968 | SLC19A2 | c.515G= (p.Gly172=) c.205-7261G= (n.205-7261G=) c.323G= (p.Gly108=) | dbSNP |