| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.65198563T>G | CA392862893 | CILP | c.1723A>C (p.Lys575Gln) c.1804A>C (p.Lys602Gln) c.1651A>C (p.Lys551Gln) | dbSNP gnomAD v4 |
| 15 | g.65198563T>C | CA7615447 | CILP | c.1723A>G (p.Lys575Glu) c.1804A>G (p.Lys602Glu) c.1651A>G (p.Lys551Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65198563T>A | CA392862885 | CILP | c.1723A>T (p.Lys575Ter) c.1804A>T (p.Lys602Ter) c.1651A>T (p.Lys551Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65198563T= | CA2183503430 | CILP | c.1723A= (p.Lys575=) c.1804A= (p.Lys602=) c.1651A= (p.Lys551=) | dbSNP |