| 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 |
| 21 | g.45537880T= | CA2392210518 | SLC19A1 | c.80A= (p.His27=) n.54A= c.-279A= (n.-279A=) c.371A= (p.His124=) c.146A= (p.His49=) c.-165-5732A= (n.-165-5732A=) c.284A= (p.His95=) | dbSNP |
| 21 | g.45537880T>A | CA410511192 | SLC19A1 | c.80A>T (p.His27Leu) n.54A>T c.-279A>T (n.-279A>T) c.371A>T (p.His124Leu) c.146A>T (p.His49Leu) c.-165-5732A>T (n.-165-5732A>T) c.284A>T (p.His95Leu) | dbSNP gnomAD v4 |