| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.11553576C>T | CA340507 | LITAF | c.334G>A (p.Gly112Ser) c.220+2935G>A (n.220+2935G>A) c.55G>A (p.Gly19Ser) c.*147G>A (n.*147G>A) c.153G>A n.468G>A c.424G>A (p.Gly142Ser) | ClinVar dbSNP gnomAD v4 |
| 16 | g.11553576C>G | CA394765305 | LITAF | c.334G>C (p.Gly112Arg) c.220+2935G>C (n.220+2935G>C) c.55G>C (p.Gly19Arg) c.*147G>C (n.*147G>C) c.153G>C n.468G>C c.424G>C (p.Gly142Arg) | dbSNP |
| 16 | g.11553576C= | CA2207696550 | LITAF | c.334G= (p.Gly112=) c.220+2935G= (n.220+2935G=) c.55G= (p.Gly19=) c.*147G= (n.*147G=) c.153G= n.468G= c.424G= (p.Gly142=) | dbSNP |