| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7042621A>G | CA8335281 | SLC16A11 | c.489T>C (p.Leu163=) c.561T>C (p.Leu187=) n.677+309T>C c.846T>C (p.Leu282=) c.703+309T>C (n.703+309T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7042621A= | CA2245612896 | SLC16A11 | c.489T= (p.Leu163=) c.561T= (p.Leu187=) n.677+309T= c.846T= (p.Leu282=) c.703+309T= (n.703+309T=) | dbSNP |