| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.45196361del | CA7170016 | FANCM | c.3847del (p.Gln1283LysfsTer2) c.1308del c.5323del (p.Gln1775LysfsTer2) n.1420del c.5341-2283del (n.5341-2283del) c.*3555del (n.*3555del) c.5374del (p.Gln1792LysfsTer2) n.1970del c.3339-2283del c.4461del c.4362del c.*1286del (n.*1286del) c.4158del c.4158-3509del c.4347del n.2267del c.5530del (p.Gln1844LysfsTer2) c.5452del (p.Gln1818LysfsTer2) c.2432del c.4078del (p.Gln1360LysfsTer2) c.190del (p.Gln64LysfsTer2) c.5545del (p.Gln1849LysfsTer2) c.5467del (p.Gln1823LysfsTer2) c.5356-2283del (n.5356-2283del) c.3559del (p.Gln1187LysfsTer2) c.5356-3509del (n.5356-3509del) c.4582del (p.Gln1528LysfsTer2) c.4360del (p.Gln1454LysfsTer2) c.4345del (p.Gln1449LysfsTer2) n.5448-2283del n.5433-2283del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.45196361C= | CA3206818245 | FANCM | c.3847C= (p.Gln1283=) c.1308C= c.5323C= (p.Gln1775=) n.1420C= c.5341-2283C= (n.5341-2283C=) c.*3555C= (n.*3555C=) c.5374C= (p.Gln1792=) n.1970C= c.3339-2283C= c.4461C= c.4362C= c.*1286C= (n.*1286C=) c.4158C= c.4158-3509C= c.4347C= n.2267C= c.5530C= (p.Gln1844=) c.5452C= (p.Gln1818=) c.2432C= c.4078C= (p.Gln1360=) c.190C= (p.Gln64=) c.5545C= (p.Gln1849=) c.5467C= (p.Gln1823=) c.5356-2283C= (n.5356-2283C=) c.3559C= (p.Gln1187=) c.5356-3509C= (n.5356-3509C=) c.4582C= (p.Gln1528=) c.4360C= (p.Gln1454=) c.4345C= (p.Gln1449=) n.5448-2283C= n.5433-2283C= | dbSNP dbSNP |