| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.21162172T>A | CA408492555 | KIZ | c.707T>A (p.Met236Lys) c.558T>A c.371T>A (p.Met124Lys) c.308T>A (p.Met103Lys) c.368T>A (p.Met123Lys) c.560T>A (p.Met187Lys) c.398T>A (p.Met133Lys) c.90T>A n.831T>A n.85+624A>T c.365T>A (p.Met122Lys) n.773T>A | dbSNP gnomAD v4 |
| 20 | g.21162172T>C | CA9784695 | KIZ | c.707T>C (p.Met236Thr) c.558T>C c.371T>C (p.Met124Thr) c.308T>C (p.Met103Thr) c.368T>C (p.Met123Thr) c.560T>C (p.Met187Thr) c.398T>C (p.Met133Thr) c.90T>C n.831T>C n.85+624A>G c.365T>C (p.Met122Thr) n.773T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.21162172T= | CA2354754014 | KIZ | c.707T= (p.Met236=) c.558T= c.371T= (p.Met124=) c.308T= (p.Met103=) c.368T= (p.Met123=) c.560T= (p.Met187=) c.398T= (p.Met133=) c.90T= n.831T= n.85+624A= c.365T= (p.Met122=) n.773T= | dbSNP |