| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48859097T>C | CA121918 | SLC25A20 | c.713A>G (p.Gln238Arg) c.494A>G (p.Gln165Arg) c.*543A>G (n.*543A>G) c.536-1325A>G (n.536-1325A>G) | ClinVar dbSNP |
| 3 | g.48859097T>A | CA352626126 | SLC25A20 | c.713A>T (p.Gln238Leu) c.494A>T (p.Gln165Leu) c.*543A>T (n.*543A>T) c.536-1325A>T (n.536-1325A>T) | dbSNP |
| 3 | g.48859097T= | CA1363213220 | SLC25A20 | c.713A= (p.Gln238=) c.494A= (p.Gln165=) c.*543A= (n.*543A=) c.536-1325A= (n.536-1325A=) | dbSNP |