Table 1.
Variants of interest in the affected individual II:1.
| Chromosome | chr2 | chr8 | chr8 |
|---|---|---|---|
| Position | 29295593 | 10480385 | 10464491 |
| Gene name | C2orf71 | RP1L1 | RP1L1 |
| Reference nucleotide | G | G | |
| Number of reference reads | 89 | 13 | 86 |
| Variant nucleotide | T | T | A |
| Number of variant reads | 64 | 7 | 62 |
| Percentage of variant reads | 42% | 35% | 42% |
| Mutation type | Nonsense | Frameshift | Nonsense |
| Refseq | NM_001029883 | NM_178857 | NM_178857 |
| Mutation DNA | c.1535C>A | c.326_327insT | c.7117C>T |
| Mutation protein | p.(Ser512*) | p.(Lys111Glnfs*27) | p.(Gln2373*) |
| Sanger verification | Yes | Yes | Yes |