| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.33060846C>T | CA6944175 | KL | c.1767C>T (p.His589=) n.1825C>T c.846C>T (p.His282=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.33060846C>A | CA6944176 | KL | c.1767C>A (p.His589Gln) n.1825C>A c.846C>A (p.His282Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.33060846C= | CA1630855917 | KL | c.1767C= (p.His589=) n.1825C= c.846C= (p.His282=) | dbSNP |