| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.144512033G>A | CA144340 | RECQL4 | c.3271C>T (p.Gln1091Ter) c.288C>T n.50-244C>T c.517C>T (p.Gln173Ter) c.2200C>T (p.Gln734Ter) c.3346C>T (p.Gln1116Ter) c.3250C>T (p.Gln1084Ter) c.3154C>T (p.Gln1052Ter) c.3148C>T (p.Gln1050Ter) c.3073C>T (p.Gln1025Ter) c.2209C>T (p.Gln737Ter) n.3352+111C>T n.3326C>T n.3219C>T c.3436C>T (p.Gln1146Ter) c.3361C>T (p.Gln1121Ter) c.3340C>T (p.Gln1114Ter) c.3238C>T (p.Gln1080Ter) c.2299C>T (p.Gln767Ter) n.3438+111C>T n.3412C>T n.3303C>T n.3166C>T n.2968C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.144512033G>T | CA372669106 | RECQL4 | c.3271C>A (p.Gln1091Lys) c.288C>A n.50-244C>A c.517C>A (p.Gln173Lys) c.2200C>A (p.Gln734Lys) c.3346C>A (p.Gln1116Lys) c.3250C>A (p.Gln1084Lys) c.3154C>A (p.Gln1052Lys) c.3148C>A (p.Gln1050Lys) c.3073C>A (p.Gln1025Lys) c.2209C>A (p.Gln737Lys) n.3352+111C>A n.3326C>A n.3219C>A c.3436C>A (p.Gln1146Lys) c.3361C>A (p.Gln1121Lys) c.3340C>A (p.Gln1114Lys) c.3238C>A (p.Gln1080Lys) c.2299C>A (p.Gln767Lys) n.3438+111C>A n.3412C>A n.3303C>A n.3166C>A n.2968C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |