| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.75939781C>T | CA15805001 | IFT43,TTLL5 | c.3824-14643C>T (n.3824-14643C>T) n.86-1643C>T n.315-14643C>T n.89+37557C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75939781C>G | CA2147716003 | IFT43,TTLL5 | c.3824-14643C>G (n.3824-14643C>G) n.86-1643C>G n.315-14643C>G n.89+37557C>G | dbSNP |
| 14 | g.75939781C>A | CA2147716002 | IFT43,TTLL5 | c.3824-14643C>A (n.3824-14643C>A) n.86-1643C>A n.315-14643C>A n.89+37557C>A | dbSNP |