| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36222839G>A | CA5056466 | CLTA,GNE | c.1664C>T (p.Ala555Val) c.1394C>T (p.Ala465Val) c.1571C>T (p.Ala524Val) c.1411+534C>T (n.1411+534C>T) c.485+18660G>A (n.485+18660G>A) c.1241C>T (p.Ala414Val) c.1556C>T (p.Ala519Val) c.1511C>T (p.Ala504Val) c.1418C>T (p.Ala473Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36222839G>T | CA5056467 | CLTA,GNE | c.1664C>A (p.Ala555Glu) c.1394C>A (p.Ala465Glu) c.1571C>A (p.Ala524Glu) c.1411+534C>A (n.1411+534C>A) c.485+18660G>T (n.485+18660G>T) c.1241C>A (p.Ala414Glu) c.1556C>A (p.Ala519Glu) c.1511C>A (p.Ala504Glu) c.1418C>A (p.Ala473Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36222839G= | CA1846333365 | CLTA,GNE | c.1664C= (p.Ala555=) c.1394C= (p.Ala465=) c.1571C= (p.Ala524=) c.1411+534C= (n.1411+534C=) c.485+18660G= (n.485+18660G=) c.1241C= (p.Ala414=) c.1556C= (p.Ala519=) c.1511C= (p.Ala504=) c.1418C= (p.Ala473=) | dbSNP |