Patient ID | Gene | Chromosomal locus | Exon | Variant Class | Variants | Zygosity | MOI | Minor allele frequency | Functional Prediction Tools | ACMG Evidence | ACMG Classification | SNP id | Reference | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
cDNA_Change | Amino acid_Change | ExAC | 1000G | SIFT | PP2 | Mutation Taster | FATHMM | |||||||||||
AS01 | RPE65 | 1p31.2 | 5 | Frameshift-ins | c.361dup | p.Ser121PhefsTer10 | Hom | AR | NA | NA | NA | NA | D | NA | PVS1, PM2, PP3, PP5 | Pathogenic | rs121918844 | 13,14,15 |
AS02 | LCA5 | 6q14.1 | 7 | Frameshift-del | c.1062_1068del | p.Tyr354Ter | Hom | AR | NA | NA | NA | NA | D | NA | PVS1, PM2, PP3, PP5 | Pathogenic | NA | 17,18 |
AS03 | LCA5 | 6q14.1 | 9 | Frameshift-del | c.1823dela | p.Leu608TyrfsTer30 | Hom | AR | NA | NA | NA | NA | D | NA | PVS1, PM2, PP3 | Pathogenic | NA | this study |
AS04 | CRX | 19q13.33 | 4 | Frameshift-del | c.848dela | p.Met283ArgfsTer88 | Het | AD | NA | NA | NA | NA | D | NA | PVS1, PM2, PP4 | Pathogenic | NA | this study |
AS05 | PRPH2 | 6p21.1 | 2 | Missense | c.629Cā>āT | p.Pro210Leu | Hom | AR | NA | NA | D (0.03) | PoD (0.847) | D | D | PM1,PM2, PP3, PP5 | Likely Pathogenic | rs61755798 | 24 |
AS06 | CEP290 | 12q21.32 | 23 | Missense | c.2483Gā>āTa | p.Ser828Ile | Hom | AR | NA | NA | D (0) | PoD (0.731) | D | T | PM2, PP3 | Uncertain significance | NA | this study |
AS07 | ALMS1 | 2p13.1 | 16 | Frameshift-del | c.11310_11313del | p.Glu3771TrpfsTer18 | Hom | AR | 1.67E-05 | NA | NA | NA | D | NA | PVS1, PM2, PP3, PP5 | Pathogenic | rs747272625 | this study |
AS08 | IFT80 | 3q25.33 | 18 | Missense | c.1936Gā>āT | p.Val646Phe | Hom | AR | 5.07E-05 | NA | D (0) | PrD (0.927) | D | D | PM2, PP3 | Uncertain significance | rs752617502 | this study |
AS09 | RP1 | 8q12.1 | 4 | Frameshift-del | c.3751_3752del | p.Val1251PhefsTer9 | Hom | AR | 8.24E-06 | NA | NA | NA | D | NA | PVS1, PM2, PP3 | Pathogenic | rs745640645 | this study |