| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.113400106G>A | CA115344 | ANKK1 | c.2137G>A (p.Glu713Lys) c.2170G>A (p.Glu724Lys) c.2140G>A (p.Glu714Lys) c.1948G>A (p.Glu650Lys) c.2167G>A (p.Glu723Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113400106G>T | CA382647508 | ANKK1 | c.2137G>T (p.Glu713Ter) c.2170G>T (p.Glu724Ter) c.2140G>T (p.Glu714Ter) c.1948G>T (p.Glu650Ter) c.2167G>T (p.Glu723Ter) | dbSNP |
| 11 | g.113400106G>C | CA382647506 | ANKK1 | c.2137G>C (p.Glu713Gln) c.2170G>C (p.Glu724Gln) c.2140G>C (p.Glu714Gln) c.1948G>C (p.Glu650Gln) c.2167G>C (p.Glu723Gln) | dbSNP gnomAD v4 |
| 11 | g.113400106G= | CA2001153602 | ANKK1 | c.2137G= (p.Glu713=) c.2170G= (p.Glu724=) c.2140G= (p.Glu714=) c.1948G= (p.Glu650=) c.2167G= (p.Glu723=) | dbSNP |