| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.176951573G>A | CA447720288 | UIMC1 | c.1344C>T (p.Thr448=) n.479C>T c.846C>T (p.Thr282=) c.234C>T (p.Thr78=) c.*847C>T (n.*847C>T) c.1047C>T (p.Thr349=) c.501C>T (p.Thr167=) c.435C>T (p.Thr145=) n.1476C>T n.1497C>T c.1110C>T (p.Thr370=) | dbSNP |
| 5 | g.176951573G>T | CA3575153 | UIMC1 | c.1344C>A (p.Thr448=) n.479C>A c.846C>A (p.Thr282=) c.234C>A (p.Thr78=) c.*847C>A (n.*847C>A) c.1047C>A (p.Thr349=) c.501C>A (p.Thr167=) c.435C>A (p.Thr145=) n.1476C>A n.1497C>A c.1110C>A (p.Thr370=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |