| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36218272G>C | CA5056405 | CLTA,GNE | c.1937C>G (p.Ser646Ter) c.1667C>G (p.Ser556Ter) c.1844C>G (p.Ser615Ter) c.1622C>G (p.Ser541Ter) c.485+14093G>C (n.485+14093G>C) c.1514C>G (p.Ser505Ter) c.1829C>G (p.Ser610Ter) c.1784C>G (p.Ser595Ter) c.1691C>G (p.Ser564Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36218272G>A | CA373425196 | CLTA,GNE | c.1937C>T (p.Ser646Leu) c.1667C>T (p.Ser556Leu) c.1844C>T (p.Ser615Leu) c.1622C>T (p.Ser541Leu) c.485+14093G>A (n.485+14093G>A) c.1514C>T (p.Ser505Leu) c.1829C>T (p.Ser610Leu) c.1784C>T (p.Ser595Leu) c.1691C>T (p.Ser564Leu) | dbSNP gnomAD v4 |
| 9 | g.36218272G= | CA1846325540 | CLTA,GNE | c.1937C= (p.Ser646=) c.1667C= (p.Ser556=) c.1844C= (p.Ser615=) c.1622C= (p.Ser541=) c.485+14093G= (n.485+14093G=) c.1514C= (p.Ser505=) c.1829C= (p.Ser610=) c.1784C= (p.Ser595=) c.1691C= (p.Ser564=) | dbSNP |