| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184353722C>A | CA2733986 | CLCN2,EIF2B5 | c.1795G>T (p.Asp599Tyr) c.*754-300G>T (n.*754-300G>T) c.1610G>T c.*1985G>T (n.*1985G>T) n.3398-300G>T c.1031G>T c.1601G>T c.2003G>T c.1744G>T (p.Asp582Tyr) c.662G>T c.1663G>T (p.Asp555Tyr) c.2106+209015C>A (n.2106+209015C>A) c.637G>T (p.Asp213Tyr) n.1975G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184353722C>T | CA347667 | CLCN2,EIF2B5 | c.1795G>A (p.Asp599Asn) c.*754-300G>A (n.*754-300G>A) c.1610G>A c.*1985G>A (n.*1985G>A) n.3398-300G>A c.1031G>A c.1601G>A c.2003G>A c.1744G>A (p.Asp582Asn) c.662G>A c.1663G>A (p.Asp555Asn) c.2106+209015C>T (n.2106+209015C>T) c.637G>A (p.Asp213Asn) n.1975G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |