| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.45159190dup | CA248457 | FANCM | c.1491dup (p.Gln498ThrfsTer7) c.1332dup (p.Gln445ThrfsTer7) c.*302dup (n.*302dup) n.1439dup n.2041dup c.1413dup (p.Gln472ThrfsTer7) c.308dup c.1359dup (p.Gln454ThrfsTer7) c.246dup (p.Gln83ThrfsTer7) c.528dup (p.Gln177ThrfsTer7) c.306dup (p.Gln103ThrfsTer7) n.1583dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.45159190A= | CA2133607202 | FANCM | c.1491A= (p.Ser497=) c.1332A= (p.Ser444=) c.*302A= (n.*302A=) n.1439A= n.2041A= c.1413A= (p.Ser471=) c.308A= c.1359A= (p.Ser453=) c.246A= (p.Ser82=) c.528A= (p.Ser176=) c.306A= (p.Ser102=) n.1583A= | dbSNP dbSNP |