Table 2.
Annotations of the identified variations in FBP1 gene.
| Patient | Genomic Position (NG_008174.1) | Transcriptional Position (NM_000507.3) | Amino Acid Position (NP_000498.2) | Exon/Intron Position (NM_000507.3) | Mutation Type | Homo/Het | Read Depth | ClinVar ID | CADD Score | Novelty | Carrier |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Case 1 | g.38434delC | c.704delC | p.Pro235GlnfsX42 | Exon 5 | Frameshift | Het | 13 | NA | NA | Novel | Father |
| g.41812_41813insG | c.960_961insG | p.Ser321ValfsX13 | Exon 7 | Frameshift | Het | 43 | 867 | NA | Known | Mother | |
| Case 2 | g.39794G>A | c.825+1G>A | NA | Intron 6 | Splicing | Het | 108 | NA | NA | Known | Mother |
| c.960_961insG | Het | 65 | Father | ||||||||
| Case 3 | g.27411G>A | c.355G>A | p.Asp119Asn | Exon 3 | Missense | Homo | 167 | 214,364 | 33.000 | Known | Father/Mother |
| Case 4 | g.35252G>A | c.490G>A | p.Gly164Ser | Exon 4 | Missense | Het | 187 | 868 | 29.900 | Known | Father |
| g.39688_39697del | c.720_729del | p.Tyr241GlyfsX33 | Exon 6 | Frameshift | Het | 93 | NA | NA | Novel | Mother |
NA, not available; Homo, homozygote; Het, heterozygote.