| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.20003169G>A | CA118876 | MATN3,WDR35-DT | c.908C>T (p.Thr303Met) c.791-1089C>T (n.791-1089C>T) n.364-851G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.20003169G= | CA2493006775 | MATN3,WDR35-DT | c.908C= (p.Thr303=) c.791-1089C= (n.791-1089C=) n.364-851G= | dbSNP |