| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41354765C>T | CA210341 | B9D2,TMEM91 | c.463G>A (p.Gly155Ser) c.-30+3563C>T (n.-30+3563C>T) c.*309G>A (n.*309G>A) c.142+450C>T (n.142+450C>T) n.350+3563C>T c.337G>A (p.Gly113Ser) c.304G>A (p.Gly102Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41354765C= | CA2336427208 | B9D2,TMEM91 | c.463G= (p.Gly155=) c.-30+3563C= (n.-30+3563C=) c.*309G= (n.*309G=) c.142+450C= (n.142+450C=) n.350+3563C= c.337G= (p.Gly113=) c.304G= (p.Gly102=) | dbSNP |