| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.113399293G>T | CA6280922 | ANKK1 | c.1324G>T (p.Gly442Cys) c.1357G>T (p.Gly453Cys) c.1327G>T (p.Gly443Cys) c.1135G>T (p.Gly379Cys) c.1354G>T (p.Gly452Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399293G>C | CA6280921 | ANKK1 | c.1324G>C (p.Gly442Arg) c.1357G>C (p.Gly453Arg) c.1327G>C (p.Gly443Arg) c.1135G>C (p.Gly379Arg) c.1354G>C (p.Gly452Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399293G>A | CA6280923 | ANKK1 | c.1324G>A (p.Gly442Ser) c.1357G>A (p.Gly453Ser) c.1327G>A (p.Gly443Ser) c.1135G>A (p.Gly379Ser) c.1354G>A (p.Gly452Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |