| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.75978424C>T | CA14008731 | IFT43,TGFB3 | c.352+2118G>A (n.352+2118G>A) n.90-10461C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75978424C>G | CA2147728028 | IFT43,TGFB3 | c.352+2118G>C (n.352+2118G>C) n.90-10461C>G | dbSNP |
| 14 | g.75978424C= | CA2147728027 | IFT43,TGFB3 | c.352+2118G= (n.352+2118G=) n.90-10461C= | dbSNP |