| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.45189243dup | CA7169932 | FANCM | c.3433dup (p.Thr1145AsnfsTer14) c.999dup c.5014dup (p.Thr1672AsnfsTer14) c.*4032dup (n.*4032dup) n.1111dup c.5221dup (p.Thr1741AsnfsTer14) c.*3246dup (n.*3246dup) c.5065dup (p.Thr1689AsnfsTer14) n.5169dup c.3219dup c.4152dup c.4053dup c.*977dup (n.*977dup) c.3968+70dup c.4038dup n.1958dup c.5143dup (p.Thr1715AsnfsTer14) c.2018dup c.3769dup (p.Thr1257AsnfsTer14) c.5236dup (p.Thr1746AsnfsTer14) c.5158dup (p.Thr1720AsnfsTer14) c.3250dup (p.Thr1084AsnfsTer14) c.4273dup (p.Thr1425AsnfsTer14) c.4051dup (p.Thr1351AsnfsTer14) c.4036dup (p.Thr1346AsnfsTer14) n.5328dup n.5313dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.45189243A= | CA2133628632 | FANCM | c.3433A= (p.Thr1145=) c.999A= c.5014A= (p.Thr1672=) c.*4032A= (n.*4032A=) n.1111A= c.5221A= (p.Thr1741=) c.*3246A= (n.*3246A=) c.5065A= (p.Thr1689=) n.5169A= c.3219A= c.4152A= c.4053A= c.*977A= (n.*977A=) c.3968+70A= c.4038A= n.1958A= c.5143A= (p.Thr1715=) c.2018A= c.3769A= (p.Thr1257=) c.5236A= (p.Thr1746=) c.5158A= (p.Thr1720=) c.3250A= (p.Thr1084=) c.4273A= (p.Thr1425=) c.4051A= (p.Thr1351=) c.4036A= (p.Thr1346=) n.5328A= n.5313A= | dbSNP dbSNP |