| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.105241292G>T | CA488201898 | BRF1 | c.667C>A (p.Arg223=) c.322C>A (p.Arg108=) c.55C>A (p.Arg19=) c.586C>A (p.Arg196=) c.-21+7857C>A (n.-21+7857C>A) c.227C>A c.31+5996C>A (n.31+5996C>A) c.544+11215C>A (n.544+11215C>A) c.154C>A (p.Arg52=) c.-21+5779C>A (n.-21+5779C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.105241292G>A | CA174016 | BRF1 | c.667C>T (p.Arg223Trp) c.322C>T (p.Arg108Trp) c.55C>T (p.Arg19Trp) c.586C>T (p.Arg196Trp) c.-21+7857C>T (n.-21+7857C>T) c.227C>T c.31+5996C>T (n.31+5996C>T) c.544+11215C>T (n.544+11215C>T) c.154C>T (p.Arg52Trp) c.-21+5779C>T (n.-21+5779C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.105241292G= | CA2161205957 | BRF1 | c.667C= (p.Arg223=) c.322C= (p.Arg108=) c.55C= (p.Arg19=) c.586C= (p.Arg196=) c.-21+7857C= (n.-21+7857C=) c.227C= c.31+5996C= (n.31+5996C=) c.544+11215C= (n.544+11215C=) c.154C= (p.Arg52=) c.-21+5779C= (n.-21+5779C=) | dbSNP |