| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.75973002G>C | CA14008724 | IFT43,TGFB3 | c.353-1284C>G (n.353-1284C>G) n.90-15883G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75973002G= | CA2147725712 | IFT43,TGFB3 | c.353-1284C= (n.353-1284C=) n.90-15883G= | dbSNP |