Table 1.
FANCA and ALK mutation details
| Gene | Description | Somatic | Cytoband | Pos (hg19/GRCh37) | Ref | Var | Coverage at mutation site | Var allele fraction | Variant function on protein | Change cDNA/protein | Predicted impact on protein function | Presence public databases | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SIFT | PP2 | LRT | dbSNP(132) | 1000 Genome | esp6500 all | Cosmic | ClinVar | HGMD | |||||||||||
| FANCA | Fanconi anemia group A protein | No | 16q24.3 | Chr 16:89805118 | T | G | 80× | 43% | Splicing | FANCA: NM_000135.2:exon43:c.4261-2A>C | - | - | - | - | - | - | - | - | CS04812 |
| FANCA | Fanconi anemia group A protein | No | 16q24.3 | Chr 16:89831348 | G | A | 185× | 49% | Nonsynonymous SNV | FANCA:NM_000135.2:exon28:c.C2728T:p.L910F | Deleterious | Probably damaging | Deleterious | - | - | - | 4483710 | - | - |
| FANCA | Fanconi anemia group A protein | No | 16q24.3 | Chr 16:89871709 | C | T | 81× | 62% | Nonsynonymous SNV | FANCA:NM_000135.2:exon7:c.G688A:p.V230I | Nondeleterious | Benign | Neutral | rs144560850 | - | 0.000231 | - | 321366 | - |
| ALK | ALK tyrosine kinase receptor | Yes | 2p23.2 | Chr 2:29445213 | A | G | 83× | 40% | Nonsynonymous SNV | ALK:NM_004304.4:exon22:c.T3512C:p.I1171T | - | Probably damaging | Deleterious | - | - | - | 4381100 | - | - |
Variant specific information including position, transcript-ID, coverage, and presence in publically available databases.