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. Author manuscript; available in PMC: 2018 May 24.
Published in final edited form as: Ophthalmic Genet. 2016 Mar 30;38(2):127–132. doi: 10.3109/13816810.2016.1151898

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
HHS Vulnerability Disclosure