| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32828908A>G | CA3745733 | TAP2 | n.5988T>C c.2059T>C (p.Ter687Gln) c.1870T>C (p.Ter624Gln) c.2092T>C (p.Ter698Gln) c.2053T>C (p.Ter685Gln) c.1932+492T>C (n.1932+492T>C) c.2058+1T>C (n.2058+1T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32828908A= | CA123400 | TAP2 | n.5988T= c.2059T= (p.Ter687=) c.1870T= (p.Ter624=) c.2092T= (p.Ter698=) c.2053T= (p.Ter685=) c.1932+492T= (n.1932+492T=) c.2058+1T= (n.2058+1T=) | ClinVar dbSNP |