| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1562008G>C | CA16042927 | IFT140 | c.2176C>G (p.Pro726Ala) c.*728C>G (n.*728C>G) n.2237C>G n.223C>G n.864C>G c.1930C>G (p.Pro644Ala) c.1201C>G (p.Pro401Ala) c.361C>G (p.Pro121Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1562008G>A | CA394203216 | IFT140 | c.2176C>T (p.Pro726Ser) c.*728C>T (n.*728C>T) n.2237C>T n.223C>T n.864C>T c.1930C>T (p.Pro644Ser) c.1201C>T (p.Pro401Ser) c.361C>T (p.Pro121Ser) | dbSNP gnomAD v2 |
| 16 | g.1562008G>T | CA394203220 | IFT140 | c.2176C>A (p.Pro726Thr) c.*728C>A (n.*728C>A) n.2237C>A n.223C>A n.864C>A c.1930C>A (p.Pro644Thr) c.1201C>A (p.Pro401Thr) c.361C>A (p.Pro121Thr) | dbSNP gnomAD v4 |
| 16 | g.1562008G= | CA2201729172 | IFT140 | c.2176C= (p.Pro726=) c.*728C= (n.*728C=) n.2237C= n.223C= n.864C= c.1930C= (p.Pro644=) c.1201C= (p.Pro401=) c.361C= (p.Pro121=) | dbSNP |