| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.11553564A>C | CA340515 | LITAF | c.346T>G (p.Trp116Gly) c.220+2947T>G (n.220+2947T>G) c.67T>G (p.Trp23Gly) c.*159T>G (n.*159T>G) c.165T>G n.480T>G c.436T>G (p.Trp146Gly) | ClinVar dbSNP |
| 16 | g.11553564A= | CA2207696545 | LITAF | c.346T= (p.Trp116=) c.220+2947T= (n.220+2947T=) c.67T= (p.Trp23=) c.*159T= (n.*159T=) c.165T= n.480T= c.436T= (p.Trp146=) | dbSNP |