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