Table 2 of Han, Mol Vis 2017; 23:649-659.

Table 2. Results of mutation analysis in 9 patients using TruSight One panel and targeted panel sequencing.

Patients Gene Inherit-ance Nucleotide change Amino acid change Depth Zygosity Origin of mutation SIFT ACMG
classification Allele frequency References
P1 CRX AD c.442delG p.Gly148AlafsTer39 40 Hetero De novo - P Not found Novel
P2 GUCY2D AR c.2649delT p.Phe883LeufsTer13 111 Hetero Paternal - P Not found Novel
c.3038G>A p.Gly1013Glu 68 Hetero Maternal DT(0) LP Not found Novel
P3 GUCY2D AR c.1991A>C p.His664Pro 53 Hetero Paternal DT(0) LP Not found Novel
c.2649delT p.Phe883LeufsTer13 105 Hetero Maternal - P Not found Novel
P4 NMNAT1 AR c.196C>T p.Arg66Trp 81 Hetero Maternal DT(0) LP 0.00008529 2012 Nat Genet [43], 2015 J Biol Chem [44]
c.709C>T p.Arg237Cys 30 Hetero Paternal DT(0) LP 0.00005052 2012 Nat Genet [43], 2015 J Biol Chem [44], 2012 Nat Genet [45]
P5 NMNAT1 AR c.196C>T p.Arg66Trp 96 Hetero Maternal DT(0) LP 0.00008529 2012 Nat Genet [43], 2015 J Biol Chem [44]
c.709C>T p.Arg237Cys 48 Hetero Paternal DT(0) LP 0.00005052 2012 Nat Genet [43], 2015 J Biol Chem [44], 2012 Nat Genet [45]
P6 NMNAT1 AR c.709C>T p.Arg237Cys 25 Hetero Paternal DT(0) LP 0.00005052 2012 Nat Genet [43], 2015 J Biol Chem [44], 2012 Nat Genet [45]
P7 CEP290 AR c.-1G>A _ 110 Hetero Paternal - VUS 0.00003291 Novel
c.4661_4663delAAG p.Glu1554del 83 Hetero Paternal - VUS 0.00002529 2007 Hum Mutat [17]
c.6012-12T>A _ 1252 Hetero Maternal - LP 0.00002369 2013 J Hum Genet [19], 2016 Exp Mol Med [20]
SPATA7 AR c.20_23delTCAG _ 44 Hetero Maternal - VUS 0.0004735 2011 PLoS One [18]
P8 RPGRIP1 AR c.3565_3571delCGAAGGC p.Arg1189GlyfsTer7 163 Hetero Unknown - LP 0.00001625 2008 Mol Vis [41]
P9 RPGRIP1 AR c.2079C>G p.Tyr693Ter 231 Hetero Unknown - LP Not found Novel
c.2209_2215+18del _ 13 Hetero Unknown - LP Not found Novel

Mutations in bolded characters indicate the detection by targeted panel sequencing. Abbreviation: ACMG, American College of Medical Genetics; VUS, variant of unknown significance; AD, autosomal dominant; AR, autosomal recessive; DT, deleterious; Hetero, heterozygous; M, materal; P, paternal.

Han, Mol Vis 2017; 23:649-659. http://www.molvis.org/molvis/v23/649

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