| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.25782794T>C | CA12184800 | SLC17A1 | c.*253A>G (n.*253A>G) c.*2+15989A>G (n.*2+15989A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25782794T>G | CA1616753219 | SLC17A1 | c.*253A>C (n.*253A>C) c.*2+15989A>C (n.*2+15989A>C) | dbSNP |
| 6 | g.25782794T>A | CA823415076 | SLC17A1 | c.*253A>T (n.*253A>T) c.*2+15989A>T (n.*2+15989A>T) | dbSNP |