| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.74531414T>C | CA341126 | SLC16A2 | c.1481T>C (p.Leu494Pro) c.1390T>C c.692T>C c.*4T>C (n.*4T>C) | ClinVar dbSNP |
| X | g.74531414T>G | CA413659004 | SLC16A2 | c.1481T>G (p.Leu494Arg) c.1390T>G c.692T>G c.*4T>G (n.*4T>G) | ClinVar dbSNP |
| X | g.74531414T= | CA2437510051 | SLC16A2 | c.1481T= (p.Leu494=) c.1390T= c.692T= c.*4T= (n.*4T=) | dbSNP |