Table 4 of
Xiao, Mol Vis 2019; 25:35-46. Table 4 of
Xiao, Mol Vis 2019; 25:35-46.
Table 4. Table 4. Variant identification by whole exome sequencing analysis in sporadic RP patients.
| Patients ID | Gene | Chromosome position | Novelty | Nucleotide change | Amino acid Change | Polyphen2 HDIV | SIFT | Mutation Taster | Frequency | Genotype | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1000G | ExAC | ||||||||||
| Patients carried one EYS variant or together with variants from other known RP genes | |||||||||||
| J-RP007 | EYS | Chr6:64431689 | Novel | c.8301dupT(Insert A) | p.Asp2767fs | . | . | . | . | Heterozygous | |
| J-RP013 | ZNF513 | Chr2:27601385 | rs200255167 | c. 748C>T | p.Arg250Trp | D | D | N | 0.000998403 | 0.0003 | Heterozygous |
| EYS | Chr6:64431689 | novel | c. 8297G>C | p.Gly2766Ala | D | D | D | . | . | Heterozygous | |
| J-RP021 | EYS | Chr6:64431689 | PMID:24652164 | c. 8868C>A | p.Tyr2956X | . | T | D | . | . | Heterozygous |
| J-RP011 | CRB1 | Chr1:197313422 | rs114846212 | c. 457G>A | p.Glu153Lys | D | D | D | 0.00139776 | 0.0007 | Heterozygous |
| USH2A | Chr1:216138711 | rs200038092 | c. 7068T>G | p.Asn2356Lys | P | T | D | 0.00159744 | 0.0008 | Heterozygous | |
| GUCA1B | Chr6:42162429 | Reported in database | c. 130C>T | p.Arg44Cys | D | D | D | . | 0.0000992 | Heterozygous | |
| EYS | Chr6:64431689 | PMC4911908 | c. 6416G>A | p.Cys2139Tyr | D | D | D | . | 0.00005274 | Heterozygous | |
| J-RP111 | MAK | Chr6:10773343 | Novel | . | . | . | . | . | . | . | Heterozygous |
| EYS | Chr6:64431689 | Novel | c. 8907T>G | p.Cys2969Trp | D | D | D | . | . | Heterozygous | |
| RP016 | USH2A | Chr12:16019180 | rs144892841 | c. 9041C>A | p.Thr3014Asn | D | T | D | 0.000399361 | 0.0001 | Heterozygous |
| EYS | Chr6:64431689 | PMID:22302105 | ./ splicing | . | . | . | D | . | . | Heterozygous | |
| Patients carried homozygous or compound heterozygous EYS variant | |||||||||||
| J-RP028 | EYS | Chr6:64431689 | Novel | c.8301dupT(Insert A) | p.Asp2767fs | . | . | . | . | . | Heterozygous |
| EYS | Chr6:64431689 | PMID:24652164 | c. 8012T>A | p.Leu2671X | . | . | D | . | . | Heterozygous | |
| EYS | Chr6:64431689 | PMID: 25,753,737 | c. 6416G>A | p.Cys2139Tyr | D | D | D | . | 0.00005274 | Heterozygous | |
| J-RP031 | EYS | Chr6:64431689 | Novel | c.9437_9440del (AGTT) | p.Glu3146fs | . | . | . | . | . | Heterozygous |
| EYS | Chr6:64431689 | PMC4911908 | ./splicing | . | . | . | D | . | . | Heterozygous | |
| FSCN2 | Chr17:79495999 | Reported in database | c. 442C>T | p.Arg148Trp | D | D | D | . | 0.0008 | Heterozygous | |
| J-RP039 | EYS | Chr6:64431689 | PMID: 25,753,737 | c. 6416G>A | p.Cys2139Tyr | D | D | D | 0.00005274 | 0 | Heterozygous |
| J-RP057 | EYS | Chr6:64431689 | Novel | c. 490C>T | p.Arg164X | . | . | A | . | . | Heterozygous |
| SPATA7 | Novel | c.20_23del(TCAG) | p.Val7fs | . | . | . | . | . | Heterozygous | ||
| J-RP059 | EYS | Chr6:64431689 | DOI:10.3760/cma.j.issn.1674-845X.2016.01.006 | c. 8012T>A | p.Leu2671X | . | . | D | . | . | Heterozygous |
| EYS | Chr6:64431689 | PMID: 25,753,737 | c. 6416G>A | p.Cys2139Tyr | D | D | D | . | 0.00005274 | Homozygous | |
| J-RP066 | EMC1 | Chr1:19577999 | Reported in database | c. 5C>T | p.Ala2Val | D | D | D | . | 0.0001 | Heterozygous |
| FAM161A | Chr2:62067223 | rs183615774 | c. 916C>T | p.Arg306Trp | D | D | D | 0.000798722 | 0.0002 | Heterozygous | |
| PDE6B | Chr4:619675 | Novel | c. 260T>C | p.Leu87Pro | D | D | D | . | 0.0000845 | Heterozygous | |
| TULP1 | Chr6:35471544 | Novel | c. 1194C>G | p.Ser398Arg | D | D | D | . | 0.00003798 | Heterozygous | |
| EYS | Chr6:64431689 | rs184722374 | c.9437_9440del(AGTT) | p.Glu3146fs | . | . | . | . | . | Heterozygous | |
| EYS | Chr6:64431689 | Reported in database | c. 8170G>T | p.Glu2724X | . | . | D | 0.000199681 | 0.00005069 | Heterozygous | |
| J-RP069 | EYS | Chr6:64431689 | Novel | c. 9052T>C | p.Trp3018Arg | D | D | D | . | . | Heterozygous |
| EYS | Chr6:64431689 | DOI:10.3760/cma.j.issn.1674-845X.2016.01.006 | c. 8012T>A | p.Leu2671X | . | . | D | . | . | Heterozygous | |
| EYS | Chr6:64431689 | PMID: 25,753,737 | c. 6416G>A | p.Cys2139Tyr | D | D | D | . | 0.00005274 | Heterozygous | |
| J-RP092 | EYS | Chr6:64431689 | PMC4911908 | c. 6557G>A | p.Glu2186Glu | P | P | D | . | . | Heterozygous |
| EYS | Chr6:64431689 | PMID: 25,753,737 | c. 6416G>A | p.Cys2139Tyr | D | D | D | . | 0.00005274 | Heterozygous | |
| J-RP122 | EYS | Chr6:64431689 | Novel | c.9437_9440del (AGTT) | p.Glu3146fs | . | . | . | . | . | Heterozygous |
| EYS | Chr6:64431689 | rs184722374 | c. 8170G>T | p.Glu2724X | . | . | D | 0.000199681 | 0.00005069 | Heterozygous | |
| IMPDH1 | Chr7:128040533 | Novel | c. 310G>T | p.Asp104Tyr | D | D | D | . | . | Heterozygous | |
| J-RP131 | C2orf71 | Chr2:29297043 | rs201706430 | c. 85C>T | p.Arg29Trp | D | D | N | 0.000199681 | 0.0003 | Heterozygous |
| EYS | Chr6:64431689 | DOI:10.3760/cma.j.issn.1674-845X.2016.01.006 | c. 8012T>A | p.Leu2671X | . | . | D | . | . | Heterozygous | |
| EYS | Chr6:64431689 | PMID: 25,753,737 | c. 6416G>A | p.Cys2139Tyr | D | D | D | . | 0.00005274 | Heterozygous | |
| PRPF6 | Chr20:62663398 | Reported in database | ./ splicing | . | . | . | D | . | . | Heterozygous | |
| RP020 | EYS | Chr6:64431689 | Novel | c.8301dupT (Insert A) | p.Asp2767fs | . | . | . | . | . | Heterozygous |
| EYS | Chr6:64431689 | rs150951106 | c. 3489T>A | p.Asn1163Lys | D | T | D | 0.00179712 | 0.0004 | Heterozygous | |
| RP022 | EYS | Chr6:64431689 | Novel | c.4908delA | p.Ala1636fs | . | . | . | . | . | Homozygous |