| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.207472977G>T | CA423139067 | CR2 | c.1407G>T (p.Leu469=) c.1396G>T c.1776G>T (p.Leu592=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207472977G>A | CA1368807 | CR2 | c.1407G>A (p.Leu469=) c.1396G>A c.1776G>A (p.Leu592=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207472977G= | CA1139849128 | CR2 | c.1407G= (p.Leu469=) c.1396G= c.1776G= (p.Leu592=) | dbSNP |
| 1 | g.207472977G>C | CA423139066 | CR2 | c.1407G>C (p.Leu469=) c.1396G>C c.1776G>C (p.Leu592=) | dbSNP gnomAD v4 |