| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.48995830C>T | CA16603306 | ARFGEF2 | c.3169C>T (p.Gln1057Ter) c.3166C>T (p.Gln1056Ter) n.2726C>T c.3017C>T (n.3017C>T) c.*2846C>T (n.*2846C>T) c.3060C>T (n.3060C>T) | ClinVar dbSNP gnomAD v4 |
| 20 | g.48995830C= | CA2367859134 | ARFGEF2 | c.3169C= (p.Gln1057=) c.3166C= (p.Gln1056=) n.2726C= c.3017C= (n.3017C=) c.*2846C= (n.*2846C=) c.3060C= (n.3060C=) | dbSNP |