| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.45185238del | CA7169786 | FANCM | c.2749del (p.Asp917MetfsTer?) c.315del c.4330del (p.Asp1444MetfsTer?) c.*3348del (n.*3348del) n.273del n.427del c.4537del (p.Asp1513MetfsTer?) c.*2562del (n.*2562del) c.4381del (p.Asp1461MetfsTer?) n.4485del c.2535del c.3468del c.3369del c.*293del (n.*293del) c.3354del n.1274del c.4459del (p.Asp1487MetfsTer?) c.1334del n.370del c.3085del (p.Asp1029MetfsTer?) c.4552del (p.Asp1518MetfsTer?) c.4474del (p.Asp1492MetfsTer?) c.2566del (p.Asp856MetfsTer?) c.3589del (p.Asp1197MetfsTer?) c.3367del (p.Asp1123MetfsTer?) c.3352del (p.Asp1118MetfsTer?) n.4644del n.4629del n.4681del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.45185238G= | CA3206810810 | FANCM | c.2749G= (p.Asp917=) c.315G= c.4330G= (p.Asp1444=) c.*3348G= (n.*3348G=) n.273G= n.427G= c.4537G= (p.Asp1513=) c.*2562G= (n.*2562G=) c.4381G= (p.Asp1461=) n.4485G= c.2535G= c.3468G= c.3369G= c.*293G= (n.*293G=) c.3354G= n.1274G= c.4459G= (p.Asp1487=) c.1334G= n.370G= c.3085G= (p.Asp1029=) c.4552G= (p.Asp1518=) c.4474G= (p.Asp1492=) c.2566G= (p.Asp856=) c.3589G= (p.Asp1197=) c.3367G= (p.Asp1123=) c.3352G= (p.Asp1118=) n.4644G= n.4629G= n.4681G= | dbSNP |