Phenotype Report. Num. Positions Not Called (Missing data) Num. Variants Assessed
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1 Report Date: August 19, 2015 Software Annotation Version: 8 Report Name: NA12144 NW European Genome : NA12144_S1 Sequencing Provider: Illumina Sequencing Type: Exome : Retinitis Pigmentosa Description: Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields, eventually, loss of central vision late in the course of the disease. Modes of inheritance*: Autosomal Dominant Autosomal Recessive Mitochondrial X-linked Inheritance X-linked Recessive Summary: Variant Classification Num. Variants Num. s (Missing data) Num. s Matching Pathogenic 0 7 (2.5%) 274 (97.5%) (0.0%) 61 (100%) 61 Risk factor 1 0 (0.0%) 0 (0.0%) 1 Details: Num. Variants Assessed Total number of phenotype variations assessed: 343 Chr16: 53,720,436 C Risk factor Zygosity: Heterozygous : rs Population Allele Frequency: 3.75% Impact: IP1L MISSENSE A-229-T Supporting Publications: Limitations: There are several limitations to the results presented here:
2 7 variation(s) known to be related to this phenotype were not called in the sequencing data. This data is missing would likely require additional sequencing to determine. The quality of the sequencing data has not been verified by Enlis. It is possible that variations listed here do not actually exist in the listed genome, it is possible that positions listed as matching reference are actually variant. Knowledge of the genomic factors that relate to this phenotype are incomplete. New variations genes that relate to this phenotype may be discovered in the future. s genes currently thought to be related to this phenotype may be found to be incorrect. Care should especially be taken in the interpretation of variations with confidence star levels of only 1 or 2. The Enlis Genome Research application, all associated communication (Enlis Products) are for research educational purposes only. Enlis Products together separately do not constitute medical advice should not be used as a source of professional medical advice or diagnosis. Endnotes * Mode of inheritance defintions: Autosomal Dominant Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). Autosomal Recessive Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). Mitochondrial Describes a disorder in which a mutation in one of the mitochondrial genes is necessary to express the phenotype that is always maternally inherited. X-linked Inheritance Describes a disorder with mutated alleles located on the X chromosome. X-linked Recessive X-linked recessive inheritance refers to genetic conditions associated with mutations in genes on the X chromosome. A male carrying such a mutation will be affected, because he carries only one X chromosome. A female carrying a mutation in one gene, with a normal gene on the other X chromosome, will be unaffected. Confidence Star Levels: Review Status: Classified by single submitter with no evidence provided, or multiple conficting interpretations Review Status: Classified by single submitter with evidence Review Status: Classified by multiple submitters Review Status: Reviewed by expert panel Review Status: Reviewed by professional society Human genome reference version: HomoSapiens_GRCh37
3 Appendix - Full List: 26,764,719 68,895,518 68,896,843 68,903,896 68,903,911 68,903,976 68,910,315 68,910,541 68,912,520 94,528,222 94,544, ,316, ,316, ,316, ,132, ,132, ,146, ,390,534 rs DHDDS Pathogenic Retinitis pigmentosa 59 rs RPE65 Pathogenic rs RPE65 Pathogenic Retinitis pigmentosa 20 rs RPE65 Pathogenic Retinitis pigmentosa 20 rs RPE65 Pathogenic Retinitis pigmentosa 20 rs RPE65 Pathogenic Retinitis pigmentosa 20 rs RPE65 Pathogenic Retinitis pigmentosa 20 rs RPE65 Pathogenic Retinitis pigmentosa 20 rs RPE65 Pathogenic rs ABCA4 Pathogenic Retinitis pigmentosa 19 rs ABCA4 Pathogenic Retinitis pigmentosa 19 rs PRPF3 Pathogenic Retinitis pigmentosa 18 rs PRPF3 Pathogenic Retinitis pigmentosa 18 rs PRPF3 Pathogenic Retinitis pigmentosa 18 rs SEMA4A Pathogenic Retinitis pigmentosa 35 rs SEMA4A Pathogenic Retinitis pigmentosa 35 rs SEMA4A Pathogenic Retinitis pigmentosa 35 rs CRB1 Pathogenic Retinitis pigmentosa 12
4 197,396, ,396, ,396, ,403, ,403, ,404, ,404, ,404, ,404, ,446, ,446, ,844, ,844, ,032, ,032, ,032, ,807, ,814, ,822, ,823,990 rs CRB1 Pathogenic Retinitis pigmentosa 12 rs CRB1 Pathogenic Retinitis pigmentosa 12 rs CRB1 Pathogenic Retinitis pigmentosa 12 rs CRB1 Pathogenic Retinitis pigmentosa 12 rs CRB1 Pathogenic Retinitis pigmentosa 12 rs CRB1 Pathogenic Retinitis pigmentosa 12 rs CRB1 Pathogenic Retinitis pigmentosa 12 CRB1 Pathogenic Retinitis pigmentosa 12 rs CRB1 Pathogenic Retinitis pigmentosa 12 CRB1 Pathogenic Retinitis pigmentosa 12 rs NEK2 Pathogenic Retinitis pigmentosa 67 rs FLVCR1 Pathogenic Posterior column ataxia with retinitis pigmentosa rs FLVCR1 Pathogenic Posterior column ataxia with retinitis pigmentosa rs FLVCR1 Pathogenic Posterior column ataxia with retinitis pigmentosa USH2A Pathogenic rs USH2A Pathogenic Retinitis pigmentosa 39 USH2A rs USH2A Retinitis pigmentosa 39
5 215,824, ,844, ,844, ,847, ,848, ,853, ,901, ,901, ,956, ,963, ,972, ,990, ,040, ,040, ,051, ,173, ,419, ,420, ,420, ,420,527 USH2A rs USH2A Pathogenic USH2A USH2A rs USH2A Pathogenic Retinitis pigmentosa 39 rs USH2A Pathogenic Retinitis pigmentosa 39 USH2A Pathogenic Retinitis pigmentosa 39 USH2A Pathogenic rs USH2A Pathogenic Retinitis pigmentosa 39 USH2A Pathogenic rs USH2A Pathogenic Retinitis pigmentosa 39 USH2A rs USH2A Retinitis pigmentosa 39 rs USH2A Pathogenic USH2A rs USH2A Pathogenic rs USH2A Pathogenic rs USH2A Pathogenic rs USH2A Pathogenic Retinitis pigmentosa 39
6 216,465,634 INS TC 216,592, ,595,438 INS GATC 27,601,023 27,668,796 27,669,181 27,680,627 27,693,963 27,703,928 29,294,140 INS G 29,295,002 29,296,527 29,296,572 62,063,210 62,066,572 62,066,783-62,066,784 62,066,830 62,067,454 96,953,697 USH2A USH2A USH2A Pathogenic Retinitis pigmentosa 39 rs ZNF513 Pathogenic Retinitis pigmentosa 58 KRTCAP3, IFT172 KRTCAP3, IFT172 Pathogenic Retinitis pigmentosa 71 Pathogenic Retinitis pigmentosa 71 IFT172 Pathogenic Retinitis pigmentosa 71 rs IFT172 Pathogenic Retinitis pigmentosa 71 IFT172 Pathogenic Retinitis pigmentosa 71 C2ORF71 C2ORF71 rs C2ORF71 Pathogenic Retinitis pigmentosa 54 rs C2ORF71 Pathogenic Retinitis pigmentosa 54 rs FAM161A Pathogenic Retinitis pigmentosa 28 rs FAM161A Pathogenic Retinitis pigmentosa 28 rs FAM161A Pathogenic Retinitis pigmentosa 28 rs FAM161A Pathogenic Retinitis pigmentosa 28 rs FAM161A Pathogenic Retinitis pigmentosa 28 rs SNRNP200 Pathogenic Retinitis pigmentosa 33
7 96,953,706 96,956,153 96,958,823 96,958,828 96,959, ,686, ,687, ,751, ,758, ,766, ,777, ,779, ,423, ,423, ,438, ,468, ,243,725 97,503, ,949,961 rs SNRNP200 Pathogenic Retinitis pigmentosa 33 rs SNRNP200 Pathogenic Retinitis pigmentosa 33 SNRNP200 Pathogenic SNRNP200 Pathogenic SNRNP200 MERTK MERTK MERTK Retinitis pigmentosa 38 MERTK Pathogenic Retinitis pigmentosa 38 rs MERTK Pathogenic Retinitis pigmentosa 38 rs MERTK Pathogenic Retinitis pigmentosa 38 rs MERTK Pathogenic Retinitis pigmentosa 38 rs CERKL Pathogenic Retinitis pigmentosa 26 rs CERKL Pathogenic Retinitis pigmentosa 26 rs CERKL Pathogenic Retinitis pigmentosa 26 rs CERKL Pathogenic Retinitis pigmentosa 26 SAG Pathogenic Retinitis pigmentosa 47 ARL6 Pathogenic Retinitis pigmentosa 55 rs IMPG2 Pathogenic
8 100,961, ,962, ,994, ,247, ,247, ,247, ,247, ,247, ,247, ,247, ,247, ,247, ,247, ,247, ,247, ,247, ,247, ,247, ,249,760 rs IMPG2 Pathogenic Retinitis pigmentosa 56 rs IMPG2 Pathogenic Retinitis pigmentosa 56 rs IMPG2 Pathogenic Retinitis pigmentosa 56 rs RHO Pathogenic rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 RHO rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic
9 129,249, ,249, ,249, ,249, ,249, ,251, ,251, ,251, ,251, ,251, ,251, ,251, ,251, ,251, ,251, ,251, ,251, ,251, ,251,565 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4, autosomal recessive rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 RHO Pathogenic rs RHO Pathogenic Retinitis pigmentosa 4 RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 RHO Pathogenic rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4, autosomal recessive RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4
10 129,252, ,252, ,252, ,252, ,252, ,252, ,252, ,252, ,252, ,690, ,185, ,198, ,201, ,219, ,584 INS ACGGCGC , , , , ,328 RHO rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs RHO Pathogenic Retinitis pigmentosa 4 rs rs rs CLRN1- AS1,RP11-166N6.2, CLRN1 CLDN11, SLC7A14 CLDN11, SLC7A14 CLDN11, SLC7A14 CLDN11, SLC7A14 Pathogenic Retinitis pigmentosa 61 Pathogenic Retinitis pigmentosa 68 Pathogenic Retinitis pigmentosa 68 Pathogenic Retinitis pigmentosa 68 Pathogenic Retinitis pigmentosa 68 PDE6B Pathogenic Retinitis pigmentosa 40 PDE6B, RP J2.2 PDE6B Pathogenic Retinitis pigmentosa 40 PDE6B Pathogenic PDE6B Pathogenic Retinitis pigmentosa 40 rs PDE6B Pathogenic Retinitis pigmentosa 40
11 654, , , , , ,711 15,995,651 16,002,140 47,938,878 47,939,522 47,939,552 47,939,672 47,945,220 47,951,911 47,953, ,665,641 Chr5: 149,245, ,245,759 Chr5: 149,263,074 Chr5: 149,264,342 Chr5: 149,265,917 PDE6B rs PDE6B Pathogenic Retinitis pigmentosa 40 PDE6B Pathogenic rs PDE6B Pathogenic PDE6B Pathogenic Retinitis pigmentosa 40 rs PDE6B Pathogenic Retinitis pigmentosa 40 rs PROM1 Pathogenic Retinitis pigmentosa 41 rs PROM1 Pathogenic Retinitis pigmentosa 41 CNGA1 CNGA1 rs CNGA1 Pathogenic Retinitis pigmentosa 49 rs CNGA1 rs CNGA1 Pathogenic Retinitis pigmentosa 49 Missing Data rs CNGA1 Pathogenic Retinitis pigmentosa 49 CNGA1 LRAT PDE6A Pathogenic Retinitis pigmentosa 43 rs PDE6A Pathogenic Retinitis pigmentosa 43 PDE6A Pathogenic Retinitis pigmentosa 43 rs PDE6A Pathogenic Retinitis pigmentosa 43
12 Chr5: 149,274,791 Chr5: 149,286,908 10,804,063 10,804,119 10,804,120 10,809,146 10,813,895 INS C 10,830,845 35,467,782 35,467,809 35,467,877 35,471,400 35,471,593 35,479,425 42,153,424 42,672,100 rs PDE6A Pathogenic Retinitis pigmentosa 43 rs PDE6A Pathogenic Retinitis pigmentosa 43 rs rs rs RP11-637O19.3, SYCP2L, MAK RP11-637O19.3, SYCP2L, MAK RP11-637O19.3, SYCP2L, MAK RP11-637O19.3, SYCP2L, MAK RP11-637O19.3, SYCP2L, MAK RP11-637O19.3, SYCP2L, MAK Pathogenic Retinitis pigmentosa 62 Pathogenic Retinitis pigmentosa 62 Pathogenic Retinitis pigmentosa 62 rs TULP1 Pathogenic Retinitis pigmentosa 14 rs TULP1 Pathogenic Retinitis pigmentosa 14 rs TULP1 Pathogenic Retinitis pigmentosa 14 rs TULP1 Pathogenic Retinitis pigmentosa 14 rs TULP1 Pathogenic TULP1 rs GUCA1B Pathogenic Retinitis pigmentosa 48 rs PRPH2 Pathogenic Retinitis pigmentosa 7
13 42,672,195 42,672,199 42,672,273-42,672,275 42,672,284 42,689,519 42,689,555 42,689,574 42,689,610-42,689,612 42,689,663 42,689,715-42,689,717 42,689,937 64,430,522 64,430,718 64,431,122 64,431,518-64,431,519 T 64,431,547 INS TGCA 64,472,413 64,472,506 rs PRPH2 Pathogenic rs PRPH2 Pathogenic Retinitis pigmentosa 7 rs PRPH2 Pathogenic Retinitis pigmentosa 7 rs PRPH2 Pathogenic Retinitis pigmentosa 7 rs PRPH2 Pathogenic Retinitis pigmentosa 7, digenic rs PRPH2 Pathogenic Retinitis pigmentosa 7 PRPH2 Pathogenic PRPH2 Pathogenic Retinitis pigmentosa 7 PRPH2 Pathogenic PRPH2 Pathogenic Retinitis pigmentosa 7 rs PRPH2 Pathogenic Retinitis pigmentosa 7 rs EYS Pathogenic Retinitis pigmentosa 25 rs EYS Pathogenic EYS Pathogenic EYS Pathogenic Retinitis pigmentosa 25 EYS EYS EYS Pathogenic
14 64,488,004 64,498,027 64,574,212 64,694,283 64,791,763 64,940,493 65,146,137 65,300,557-65,300,558 65,300,746 65,300,803 INS T 65,301,357 INS CCTCTTGA 65,301,373 65,301,404-65,301,410 65,523,270 65,707,540 65,767,589 66,044,889 66,063,465 EYS Pathogenic EYS rs EYS Pathogenic Retinitis pigmentosa 25 EYS EYS Pathogenic EYS Pathogenic Retinitis pigmentosa 25 rs EYS Pathogenic Retinitis pigmentosa 25 EYS EYS EYS Pathogenic EYS EYS EYS Pathogenic Retinitis pigmentosa 25 rs EYS Pathogenic Retinitis pigmentosa 25 EYS Pathogenic Retinitis pigmentosa 25 rs EYS Pathogenic Retinitis pigmentosa 25 EYS EYS
15 66,204,814 Chr7: 23,180,394 Chr7: 23,180,402 Chr7: 23,180,403 Chr7: 33,135,003 Chr7: 128,038,485 Chr7: 128,038,611 Chr7: 128,038,616 10,469,636 10,480,477 55,534,710 55,537,560 55,537,628 55,538,471 55,538,477 55,539,142-55,539,143 C 55,540,992 55,541,318 55,541,461 EYS Pathogenic Retinitis pigmentosa 25 rs KLHL7 Pathogenic Retinitis pigmentosa 42 rs KLHL7 Pathogenic Retinitis pigmentosa 42 rs KLHL7 Pathogenic Retinitis pigmentosa 42 rs RP9 Pathogenic Retinitis pigmentosa 9 rs IMPDH1 Pathogenic Retinitis pigmentosa 10 rs IMPDH1 Pathogenic Retinitis pigmentosa 10 rs IMPDH1 Pathogenic Retinitis pigmentosa 10 RP1L1 rs RP1L1 RP1 rs RP1 Pathogenic Retinitis pigmentosa 1 rs RP1 rs RP1 Pathogenic Retinitis pigmentosa 1 rs RP1 Pathogenic Retinitis pigmentosa 1 RP1 Pathogenic Retinitis pigmentosa 1 RP1 Pathogenic Retinitis pigmentosa 1 RP1 rs RP1 Pathogenic Retinitis pigmentosa 1
16 55,542,239 63,985,549 96,259,924 Chr9: 32,541,966-32,541,969 Chr9: 116,037, ,037,927 Chr9: 116,050,463 Chr10: 48,385,854 Chr10: 86,007,463 Chr11: 61,723,360 Chr11: 61,724,448 Chr11: 61,724,902 Chr11: 61,724,904 Chr11: 61,725,666 Chr11: 62,381,084 INS G Chr11: 76,874,011 Chr14: 24,551,771 Chr14: 24,551,907 Chr14: 24,551,910 rs RP1 rs TTPA Pathogenic Ataxia retinitis pigmentosa with isolated vitamin e deficiency rs C8ORF37- AS1, C8ORF37 Pathogenic Retinitis pigmentosa 64 TOPORS Pathogenic rs PRPF4 Pathogenic Retinitis pigmentosa 70 PRPF4 Pathogenic Retinitis pigmentosa 70 rs RBP3 Pathogenic Retinitis pigmentosa 66 rs RGR Pathogenic Retinitis pigmentosa 44 rs BEST1 Pathogenic Retinitis pigmentosa 50 rs BEST1 Pathogenic Retinitis pigmentosa 50 rs BEST1 Pathogenic Retinitis pigmentosa, concentric rs BEST1 Pathogenic Retinitis pigmentosa 50 rs BEST1 Pathogenic rs ROM1 Pathogenic MYO7A rs NRL Pathogenic Retinitis pigmentosa 27 NRL Pathogenic Retinitis pigmentosa 27 rs NRL Pathogenic Retinitis pigmentosa 27
17 Chr14: 24,552,035 Chr14: 68,192,801 Chr14: 68,196,025 Chr14: 89,300,035 Chr15: 72,103,847-72,103,848 GTGTGC... Chr15: 72,103,870 Chr15: 72,104,309 Chr16: 53,720,436 Chr16: 57,282,482 Chr16: 57,931,817 Chr16: 57,938,715-57,938,716 G Chr16: 57,938,748 INS T Chr16: 57,984,367 Chr16: 57,998,386 1,554,175 1,554,178 1,554,178 1,554,192 1,554,203 1,556,852 NRL rs RDH12 Pathogenic RDH12 Pathogenic TTC8 Pathogenic Retinitis pigmentosa 51 NR2E3 Pathogenic Retinitis pigmentosa 37 rs NR2E3 Pathogenic Retinitis pigmentosa 37 NR2E3 rs IP1L Risk factor Retinitis pigmentosa in ciliopathies, modifier of rs ARL2BP, RP11-407G23.3 Pathogenic Retinitis pigmentosa without situs inversus Zygosity 1 rs CNGB1 Pathogenic Retinitis pigmentosa 45 CNGB1 Pathogenic Retinitis pigmentosa 45 CNGB1 rs CNGB1 Pathogenic Retinitis pigmentosa 45 CNGB1 rs PRPF8 Pathogenic Retinitis pigmentosa 13 rs PRPF8 Pathogenic Retinitis pigmentosa 13 rs PRPF8 Pathogenic Retinitis pigmentosa 13 rs PRPF8 Pathogenic Retinitis pigmentosa 13 rs PRPF8 Pathogenic Retinitis pigmentosa 13 rs PRPF8 Pathogenic Retinitis pigmentosa 13
18 6,328,871-6, 328,882 58,227,435 58,234,014 58,235,718 74,536,225 74,536,228 74,536,287 79,495,629 48,339,592 48,343,221 54,626,942 54,627,162 54,627,181 54,627,215 54,627,246 54,627,944 54,631,576 rs AIPL1 Pathogenic Juvenile retinitis pigmentosa, AIPL1-related Missing Data rs CA4 Pathogenic Retinitis pigmentosa 17 rs CA4 Pathogenic Retinitis pigmentosa 17 rs CA4 Pathogenic Retinitis pigmentosa 17 rs rs CYGB, PRCD CYGB, PRCD CYGB, PRCD Pathogenic Pathogenic Retinitis pigmentosa 36 Pathogenic Retinitis pigmentosa 36 rs FSCN2 Pathogenic Retinitis pigmentosa 30 rs rs CRX, TPRX2P CRX, TPRX2P PRPF31, AC PRPF31, AC PRPF31, AC PRPF31, AC PRPF31, AC PRPF31, AC Pathogenic Pathogenic Retinitis pigmentosa 11 Pathogenic Retinitis pigmentosa 11 Pathogenic Retinitis pigmentosa 11 PRPF31 Pathogenic Retinitis pigmentosa 11
19 54,631,719-54,631,729 54,632,558 54,633,399 2,641,558 3,893,179 3,897,602 3,899,342 3,899,364 21,106,808 21,112,767-21,112,770 21,117,104 25,282,896 25,282,958 25,288,617 INS GCTCTTA 25,297,700 PRPF31 Pathogenic Retinitis pigmentosa 11 PRPF31 Pathogenic Retinitis pigmentosa 11 PRPF31 Pathogenic Retinitis pigmentosa 11 Missing Data rs H3B Pathogenic Retinitis pigmentosa 46 rs PANK2 Pathogenic Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration rs PANK2 Pathogenic Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration rs PANK2 Pathogenic Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration rs PANK2 Pathogenic Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration KIZ Pathogenic Retinitis pigmentosa 69 KIZ Pathogenic Retinitis pigmentosa 69 rs KIZ Pathogenic Retinitis pigmentosa 69 ABHD12 Pathogenic Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract rs ABHD12 Pathogenic Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract ABHD12 Pathogenic Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract ABHD12 Pathogenic Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract
20 25,300,900 25,304,045-25,304,046 AA 62,626,380 62,658,491 13,768,358 38,145,602 38,145,825-38,145,826 38,145,846-38,145,847 38,146,271 38,158,366 INS CTAC 38,163,900 38,163,927-38,163,928 38,163,999 38,164,016 38,169,943 38,169,990-38,170,004 38,176,671 ABHD12 Pathogenic Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract rs ABHD12 Pathogenic Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract rs rs rs rs rs rs rs ZNF512B, PRPF6 ZNF512B, PRPF6 Pathogenic Retinitis pigmentosa 60 OFD1 Pathogenic Retinitis Pigmentosa 23 Missing Data Pathogenic Retinitis pigmentosa 15 Missing Data Pathogenic Retinitis pigmentosa Missing Data Pathogenic Retinitis pigmentosa 15 Missing Data Pathogenic Retinitis pigmentosa 15 Retinitis pigmentosa 15 Pathogenic Retinitis pigmentosa 15 Pathogenic Retinitis pigmentosa 15 Pathogenic Retinitis pigmentosa, x- linked, sinorespiratory infections, with deafness
21 38,176,683 38,178,081 38,178,162 38,180,294 38,182,174 38,182,200 46,696,550-46,696,552 46,696,611 46,713,160 46,713,161 46,713,161 46,713,166 46,713,261 ChrM: 8,618 INS T ChrM: 8,993 ChrM: 12,258 rs rs rs rs rs Pathogenic Retinitis pigmentosa 15 Pathogenic Retinitis pigmentosa 15 Pathogenic Retinitis pigmentosa 15 Pathogenic Retinitis pigmentosa 15 Pathogenic Retinitis pigmentosa 15 RP2 Pathogenic Retinitis pigmentosa 2 rs RP2 Pathogenic Retinitis pigmentosa 2 RP2 Pathogenic Retinitis pigmentosa 2 rs RP2 Pathogenic Retinitis pigmentosa 2 rs RP2 Pathogenic Retinitis pigmentosa 2 rs RP2 Pathogenic Retinitis pigmentosa 2 rs RP2 Pathogenic Retinitis pigmentosa 2 rs MT-ATP6 Pathogenic Neuropathy ataxia retinitis pigmentosa syndrome MT-ATP6 Pathogenic Neuropathy ataxia retinitis pigmentosa syndrome MT-TS2 Pathogenic Retinitis pigmentosadeafness syndrome
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