| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45537880T>G | CA410511193 | SLC19A1 | c.80A>C (p.His27Pro) n.54A>C c.-279A>C (n.-279A>C) c.371A>C (p.His124Pro) c.146A>C (p.His49Pro) c.-165-5732A>C (n.-165-5732A>C) c.284A>C (p.His95Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45537880T>C | CA170984 | SLC19A1 | c.80A>G (p.His27Arg) n.54A>G c.-279A>G (n.-279A>G) c.371A>G (p.His124Arg) c.146A>G (p.His49Arg) c.-165-5732A>G (n.-165-5732A>G) c.284A>G (p.His95Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |