| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.45198718C>T | CA7170069 | FANCM | n.1991C>T c.4108C>T (p.Arg1370Ter) c.1569C>T c.5584C>T (p.Arg1862Ter) c.1495-14C>T n.1681C>T c.*24C>T (n.*24C>T) c.*3816C>T (n.*3816C>T) c.5635C>T (p.Arg1879Ter) n.2231C>T c.3413C>T c.4722C>T c.4623C>T c.1495-1152C>T c.*1547C>T (n.*1547C>T) c.4419C>T c.4158-1152C>T c.4609C>T n.2528C>T c.5791C>T (p.Arg1931Ter) c.5713C>T (p.Arg1905Ter) n.284C>T c.2693C>T c.169C>T (p.Arg57Ter) c.4339C>T (p.Arg1447Ter) c.377-14C>T (n.377-14C>T) c.5806C>T (p.Arg1936Ter) c.5728C>T (p.Arg1910Ter) c.3820C>T (p.Arg1274Ter) c.5356-1152C>T (n.5356-1152C>T) c.4843C>T (p.Arg1615Ter) c.4621C>T (p.Arg1541Ter) c.4606C>T (p.Arg1536Ter) n.5522C>T n.5507C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.45198718C>A | CA7170070 | FANCM | n.1991C>A c.4108C>A (p.Arg1370=) c.1569C>A c.5584C>A (p.Arg1862=) c.1495-14C>A n.1681C>A c.*24C>A (n.*24C>A) c.*3816C>A (n.*3816C>A) c.5635C>A (p.Arg1879=) n.2231C>A c.3413C>A c.4722C>A c.4623C>A c.1495-1152C>A c.*1547C>A (n.*1547C>A) c.4419C>A c.4158-1152C>A c.4609C>A n.2528C>A c.5791C>A (p.Arg1931=) c.5713C>A (p.Arg1905=) n.284C>A c.2693C>A c.169C>A (p.Arg57=) c.4339C>A (p.Arg1447=) c.377-14C>A (n.377-14C>A) c.5806C>A (p.Arg1936=) c.5728C>A (p.Arg1910=) c.3820C>A (p.Arg1274=) c.5356-1152C>A (n.5356-1152C>A) c.4843C>A (p.Arg1615=) c.4621C>A (p.Arg1541=) c.4606C>A (p.Arg1536=) n.5522C>A n.5507C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |