Table 3. Small InDels identified by whole exome sequencing.
| Chr | Position | ID | Ref | Alt | Mutation | Symbol | Amino acids | SIFT | PolyPhen |
|---|---|---|---|---|---|---|---|---|---|
| chr2 | 104856098 | rs775150602 | AGCC | A | inframe_deletion | POU3F3 | A/- | - | - |
| chr12 | 111598972 | rs769170503 | C | CTGT | inframe_insertion | ATXN2 | Q/QQ | - | - |
| chr4 | 13632182 | . | CT | C | splice_acceptor_variant&non_coding_transcript_variant | - | - | ||
| chr9 | 136327352 | . | ACCCCCTC | A | TF_binding_site_variant&TFBS_ablation | GPSM1 | - | - | - |
| chr17 | 75616380 | rs371699907 | CAGG | C | inframe_deletion | MYO15B | QE/Q | - | - |
| chr19 | 9251064 | rs201985790 | CT | C | frameshift_variant | OR7E24 | F/X | - | - |
| chr19 | 51694076 | rs10689461 | C | CAG | splice_acceptor_variant&non_coding_transcript_variant | SPACA6P | - | - | - |
| chrX | 19345745 | rs776856509 | TC | TCC, T | frameshift_variant | PDHA1 | S/X | - | - |