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. 2016 Apr 5;129(7):860–867. doi: 10.4103/0366-6999.178966

Supplementary Table 2.

Gene (exons) with poor sequencing coverage and the associated diseases

Gene Related cataracts Exon Size (bp) GC content (%) Sequencing depth (x) Coverage rate (%) Uncovered sequences

Region Length (bp) Percentage of all exons
EPHA2 #116600, cataract 6, multiple types, AD EX1 240 74.17 29.70 54.12 c.1_85 85 2.14
BFSP1 #611391, cataract 33, AR EX1 417 76.13 100.89 99.73 c.1_377 377 18.87
ABHD12 #612674, polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, AR EX1 470 78.13 96.43 95.29 c.1_191 191 15.72
MAF #610202, cataract, pulverulent or cerulean, with or without microcornea, AD EX1 1941 69.65 72.14 77.28 c.1_1118 1118 42.24
CTDP1 #604168, congenital cataracts, facial dysmorphism, and neuropathy, AR EX1 461 78.09 5.30 29.30 c.1_314 314 8.37
NHS #302200, cataract 40, X-linked, XD EX1 903 70.99 79.55 74.51 c.1_565 565 6.45

AR: Autosomal recessive; AD: Autosomal dominant; XD: X-linked dominant.