| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.207587428C>T | CA1370209 | CR1 | c.5573C>T (p.Thr1858Met) c.4223C>T (p.Thr1408Met) c.1179+21505C>T c.*1338C>T (n.*1338C>T) c.5588C>T (p.Thr1863Met) c.4238C>T (p.Thr1413Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207587428C= | CA1139991046 | CR1 | c.5573C= (p.Thr1858=) c.4223C= (p.Thr1408=) c.1179+21505C= c.*1338C= (n.*1338C=) c.5588C= (p.Thr1863=) c.4238C= (p.Thr1413=) | dbSNP |