| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.11553566G>T | CA340511 | LITAF | c.344C>A (p.Thr115Asn) c.220+2945C>A (n.220+2945C>A) c.65C>A (p.Thr22Asn) c.*157C>A (n.*157C>A) c.163C>A n.478C>A c.434C>A (p.Thr145Asn) | ClinVar dbSNP |
| 16 | g.11553566G= | CA2207696546 | LITAF | c.344C= (p.Thr115=) c.220+2945C= (n.220+2945C=) c.65C= (p.Thr22=) c.*157C= (n.*157C=) c.163C= n.478C= c.434C= (p.Thr145=) | dbSNP |
| 16 | g.11553566G>A | CA394765250 | LITAF | c.344C>T (p.Thr115Ile) c.220+2945C>T (n.220+2945C>T) c.65C>T (p.Thr22Ile) c.*157C>T (n.*157C>T) c.163C>T n.478C>T c.434C>T (p.Thr145Ile) | ClinVar dbSNP gnomAD v4 |