| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.101646763G>A | CA7764589 | TM2D3 | c.464C>T (p.Pro155Leu) c.386C>T (p.Pro129Leu) c.295C>T c.765C>T n.485C>T c.*832C>T (n.*832C>T) n.406C>T c.269C>T (p.Pro90Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.101646763G= | CA2200628484 | TM2D3 | c.464C= (p.Pro155=) c.386C= (p.Pro129=) c.295C= c.765C= n.485C= c.*832C= (n.*832C=) n.406C= c.269C= (p.Pro90=) | dbSNP |