| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32828974T>C | CA3745742 | TAP2 | n.5922A>G c.1993A>G (p.Thr665Ala) c.1804A>G (p.Thr602Ala) c.2026A>G (p.Thr676Ala) c.1987A>G (p.Thr663Ala) c.1932+426A>G (n.1932+426A>G) n.819A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32828974T>G | CA363578517 | TAP2 | n.5922A>C c.1993A>C (p.Thr665Pro) c.1804A>C (p.Thr602Pro) c.2026A>C (p.Thr676Pro) c.1987A>C (p.Thr663Pro) c.1932+426A>C (n.1932+426A>C) n.819A>C | dbSNP |
| 6 | g.32828974T= | CA211255 | TAP2 | n.5922A= c.1993A= (p.Thr665=) c.1804A= (p.Thr602=) c.2026A= (p.Thr676=) c.1987A= (p.Thr663=) c.1932+426A= (n.1932+426A=) n.819A= | ClinVar dbSNP |