| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36217399A>G | CA253679 | CLTA,GNE | c.2228T>C (p.Met743Thr) c.1958T>C (p.Met653Thr) c.2135T>C (p.Met712Thr) c.1913T>C (p.Met638Thr) c.485+13220A>G (n.485+13220A>G) c.1805T>C (p.Met602Thr) c.2120T>C (p.Met707Thr) c.2075T>C (p.Met692Thr) c.1982T>C (p.Met661Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36217399A= | CA1846323685 | CLTA,GNE | c.2228T= (p.Met743=) c.1958T= (p.Met653=) c.2135T= (p.Met712=) c.1913T= (p.Met638=) c.485+13220A= (n.485+13220A=) c.1805T= (p.Met602=) c.2120T= (p.Met707=) c.2075T= (p.Met692=) c.1982T= (p.Met661=) | dbSNP dbSNP |