| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.113400632C>A | CA81562791 | CFAP44 | c.1387G>T (p.Glu463Ter) c.*1488G>T (n.*1488G>T) c.116G>T (n.116G>T) c.*803G>T (n.*803G>T) c.1519G>T (p.Glu507Ter) c.1366G>T (p.Glu456Ter) c.838G>T (p.Glu280Ter) c.487G>T (p.Glu163Ter) n.2044G>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.113400632C>T | CA353769620 | CFAP44 | c.1387G>A (p.Glu463Lys) c.*1488G>A (n.*1488G>A) c.116G>A (n.116G>A) c.*803G>A (n.*803G>A) c.1519G>A (p.Glu507Lys) c.1366G>A (p.Glu456Lys) c.838G>A (p.Glu280Lys) c.487G>A (p.Glu163Lys) n.2044G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113400632C= | CA3099644706 | CFAP44 | c.1387G= (p.Glu463=) c.*1488G= (n.*1488G=) c.116G= (n.116G=) c.*803G= (n.*803G=) c.1519G= (p.Glu507=) c.1366G= (p.Glu456=) c.838G= (p.Glu280=) c.487G= (p.Glu163=) n.2044G= | dbSNP |