| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.61958146G>T | CA222937759 | BEST1 | c.715G>T (p.Val239Leu) c.535G>T (p.Val179Leu) c.397G>T (p.Val133Leu) c.163+2195G>T (p.=) c.714+682G>T (p.=) c.622G>T (p.Val208Leu) c.-461G>T (p.=) | dbSNP |
| 11 | g.61958146G>A | CA115730 | BEST1 | c.715G>A (p.Val239Met) c.535G>A (p.Val179Met) c.397G>A (p.Val133Met) c.163+2195G>A (p.=) c.714+682G>A (p.=) c.622G>A (p.Val208Met) c.-461G>A (p.=) | ClinVar dbSNP |