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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ATP2B1-CEP290 (FusionGDB2 ID:7848)

Fusion Gene Summary for ATP2B1-CEP290

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP2B1-CEP290
Fusion gene ID: 7848
HgeneTgene
Gene symbol

ATP2B1

CEP290

Gene ID

490

80184

Gene nameATPase plasma membrane Ca2+ transporting 1centrosomal protein 290
SynonymsPMCA1|PMCA1kb3H11Ag|BBS14|CT87|JBTS5|LCA10|MKS4|NPHP6|POC3|SLSN6|rd16
Cytomap

12q21.33

12q21.32

Type of geneprotein-codingprotein-coding
Descriptionplasma membrane calcium-transporting ATPase 1ATPase, Ca++ transporting, plasma membrane 1plasma membrane calcium pumpcentrosomal protein of 290 kDaBardet-Biedl syndrome 14 proteinCTCL tumor antigen se2-2Meckel syndrome, type 4POC3 centriolar protein homologcancer/testis antigen 87centrosomal protein 290kDamonoclonal antibody 3H11 antigennephrocytsin-6prostate c
Modification date2020032220200328
UniProtAcc

P20020

O15078

Ensembl transtripts involved in fusion geneENST00000261173, ENST00000348959, 
ENST00000359142, ENST00000393164, 
ENST00000428670, 		ENST00000309041, 
ENST00000397838, ENST00000547691, 
ENST00000552810, 
Fusion gene scores* DoF score15 X 12 X 6=10809 X 9 X 6=486
# samples 139
** MAII scorelog2(13/1080*10)=-3.05444778402238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/486*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP2B1 [Title/Abstract] AND CEP290 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP2B1(90010579)-CEP290(88478629), # samples:2
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneATP2B1

GO:0051480

regulation of cytosolic calcium ion concentration

18029012

HgeneATP2B1

GO:1990034

calcium ion export across plasma membrane

18029012

TgeneCEP290

GO:0045893

positive regulation of transcription, DNA-templated

16682973

TgeneCEP290

GO:0060271

cilium assembly

26386044


check buttonFusion gene breakpoints across ATP2B1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CEP290 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4CESCTCGA-C5-A7CH-01AATP2B1chr12

90010579

-CEP290chr12

88478629

-


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Fusion Gene ORF analysis for ATP2B1-CEP290

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000261173ENST00000309041ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000261173ENST00000397838ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000261173ENST00000547691ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000261173ENST00000552810ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000348959ENST00000309041ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000348959ENST00000397838ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000348959ENST00000547691ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000348959ENST00000552810ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000359142ENST00000309041ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000359142ENST00000397838ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000359142ENST00000547691ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000359142ENST00000552810ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000393164ENST00000309041ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000393164ENST00000397838ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000393164ENST00000547691ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000393164ENST00000552810ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000428670ENST00000309041ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000428670ENST00000397838ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000428670ENST00000547691ATP2B1chr12

90010579

-CEP290chr12

88478629

-
In-frameENST00000428670ENST00000552810ATP2B1chr12

90010579

-CEP290chr12

88478629

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000348959ATP2B1chr1290010579-ENST00000547691CEP290chr1288478629-5419224818152501689
ENST00000348959ATP2B1chr1290010579-ENST00000552810CEP290chr1288478629-5415224818152501689
ENST00000348959ATP2B1chr1290010579-ENST00000397838CEP290chr1288478629-5251224818152501690
ENST00000348959ATP2B1chr1290010579-ENST00000309041CEP290chr1288478629-5251224818152501690
ENST00000261173ATP2B1chr1290010579-ENST00000547691CEP290chr1288478629-5419224818152501689
ENST00000261173ATP2B1chr1290010579-ENST00000552810CEP290chr1288478629-5415224818152501689
ENST00000261173ATP2B1chr1290010579-ENST00000397838CEP290chr1288478629-5251224818152501690
ENST00000261173ATP2B1chr1290010579-ENST00000309041CEP290chr1288478629-5251224818152501690
ENST00000359142ATP2B1chr1290010579-ENST00000547691CEP290chr1288478629-5463229222552941689
ENST00000359142ATP2B1chr1290010579-ENST00000552810CEP290chr1288478629-5459229222552941689
ENST00000359142ATP2B1chr1290010579-ENST00000397838CEP290chr1288478629-5295229222552941689
ENST00000359142ATP2B1chr1290010579-ENST00000309041CEP290chr1288478629-5295229222552941689
ENST00000428670ATP2B1chr1290010579-ENST00000547691CEP290chr1288478629-5695252445755261689
ENST00000428670ATP2B1chr1290010579-ENST00000552810CEP290chr1288478629-5691252445755261689
ENST00000428670ATP2B1chr1290010579-ENST00000397838CEP290chr1288478629-5527252445755261690
ENST00000428670ATP2B1chr1290010579-ENST00000309041CEP290chr1288478629-5527252445755261690
ENST00000393164ATP2B1chr1290010579-ENST00000547691CEP290chr1288478629-456013899343911432
ENST00000393164ATP2B1chr1290010579-ENST00000552810CEP290chr1288478629-455613899343911432
ENST00000393164ATP2B1chr1290010579-ENST00000397838CEP290chr1288478629-439213899343911432
ENST00000393164ATP2B1chr1290010579-ENST00000309041CEP290chr1288478629-439213899343911432

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000348959ENST00000547691ATP2B1chr1290010579-CEP290chr1288478629-0.0006194760.99938047
ENST00000348959ENST00000552810ATP2B1chr1290010579-CEP290chr1288478629-0.000617910.999382
ENST00000348959ENST00000397838ATP2B1chr1290010579-CEP290chr1288478629-0.0007169470.999283
ENST00000348959ENST00000309041ATP2B1chr1290010579-CEP290chr1288478629-0.0007169470.999283
ENST00000261173ENST00000547691ATP2B1chr1290010579-CEP290chr1288478629-0.0006194760.99938047
ENST00000261173ENST00000552810ATP2B1chr1290010579-CEP290chr1288478629-0.000617910.999382
ENST00000261173ENST00000397838ATP2B1chr1290010579-CEP290chr1288478629-0.0007169470.999283
ENST00000261173ENST00000309041ATP2B1chr1290010579-CEP290chr1288478629-0.0007169470.999283
ENST00000359142ENST00000547691ATP2B1chr1290010579-CEP290chr1288478629-0.0006199980.99938
ENST00000359142ENST00000552810ATP2B1chr1290010579-CEP290chr1288478629-0.0006186010.9993814
ENST00000359142ENST00000397838ATP2B1chr1290010579-CEP290chr1288478629-0.0007177070.9992823
ENST00000359142ENST00000309041ATP2B1chr1290010579-CEP290chr1288478629-0.0007177070.9992823
ENST00000428670ENST00000547691ATP2B1chr1290010579-CEP290chr1288478629-0.0007372740.99926275
ENST00000428670ENST00000552810ATP2B1chr1290010579-CEP290chr1288478629-0.0007355510.9992644
ENST00000428670ENST00000397838ATP2B1chr1290010579-CEP290chr1288478629-0.0008609670.99913895
ENST00000428670ENST00000309041ATP2B1chr1290010579-CEP290chr1288478629-0.0008609670.99913895
ENST00000393164ENST00000547691ATP2B1chr1290010579-CEP290chr1288478629-0.0008151710.9991848
ENST00000393164ENST00000552810ATP2B1chr1290010579-CEP290chr1288478629-0.0008134010.9991866
ENST00000393164ENST00000397838ATP2B1chr1290010579-CEP290chr1288478629-0.0010056960.9989943
ENST00000393164ENST00000309041ATP2B1chr1290010579-CEP290chr1288478629-0.0010056960.9989943

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Fusion Genomic Features for ATP2B1-CEP290


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for ATP2B1-CEP290


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:90010579/chr12:88478629)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP2B1

P20020

CEP290

O15078

FUNCTION: Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis. Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-induced calcium oscillations in preosteoclasts and mediating calcium extrusion in mature osteoclasts (By similarity). Regulates insulin sensitivity through calcium/calmodulin signaling pathway by regulating AKT1 activation and NOS3 activation in endothelial cells (PubMed:29104511). {ECO:0000250|UniProtKB:G5E829, ECO:0000269|PubMed:29104511}.FUNCTION: Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (PubMed:25552655). Activates ATF4-mediated transcription (PubMed:16682973). {ECO:0000250|UniProtKB:Q6A078, ECO:0000269|PubMed:16682973, ECO:0000269|PubMed:17705300, ECO:0000269|PubMed:18694559, ECO:0000269|PubMed:24421332, ECO:0000269|PubMed:25552655}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120296_2996891221.0Compositional biasNote=Poly-Glu
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119296_2996891185.0Compositional biasNote=Poly-Glu
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121296_2996891177.0Compositional biasNote=Poly-Glu
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221296_2996891221.0Compositional biasNote=Poly-Glu
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120127_1546891221.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120176_3666891221.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-11202_1056891221.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120387_4186891221.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119127_1546891185.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119176_3666891185.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-11192_1056891185.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119387_4186891185.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121127_1546891177.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121176_3666891177.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-11212_1056891177.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121387_4186891177.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221127_1546891221.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221176_3666891221.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-12212_1056891221.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221387_4186891221.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120106_1266891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120155_1756891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120367_3866891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120419_4396891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119106_1266891185.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119155_1756891185.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119367_3866891185.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119419_4396891185.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121106_1266891177.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121155_1756891177.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121367_3866891177.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121419_4396891177.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221106_1266891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221155_1756891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221367_3866891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221419_4396891221.0TransmembraneHelical
TgeneCEP290chr12:90010579chr12:88478629ENST0000039783825461071_14985391540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST0000039783825461533_15845391540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST0000039783825461635_24525391540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST000003978382546598_6645391540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST000003978382546697_9315391540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST000003978382546958_10275391540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST000005476918291071_14985391540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST000005476918291533_15845391540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST000005476918291635_24525391540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST00000547691829598_6645391540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST00000547691829697_9315391540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST00000547691829958_10275391540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST0000055281033541533_158414792480.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST0000055281033541635_245214792480.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST0000039783825461966_24795391540.0RegionSelf-association (with itself or N-terminus)
TgeneCEP290chr12:90010579chr12:88478629ENST000005476918291966_24795391540.0RegionSelf-association (with itself or N-terminus)
TgeneCEP290chr12:90010579chr12:88478629ENST0000055281033541966_247914792480.0RegionSelf-association (with itself or N-terminus)

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-11201100_11176891221.0RegionCalmodulin-binding subdomain A
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-11201118_12206891221.0RegionRequired for basolateral membrane targeting
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-11191100_11176891185.0RegionCalmodulin-binding subdomain A
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-11191118_12206891185.0RegionRequired for basolateral membrane targeting
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-11211100_11176891177.0RegionCalmodulin-binding subdomain A
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-11211118_12206891177.0RegionRequired for basolateral membrane targeting
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-12211100_11176891221.0RegionCalmodulin-binding subdomain A
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-12211118_12206891221.0RegionRequired for basolateral membrane targeting
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-11201028_10396891221.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-11201061_12206891221.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120440_8556891221.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120877_8826891221.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120904_9276891221.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120949_9716891221.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120992_10056891221.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-11191028_10396891185.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-11191061_12206891185.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119440_8556891185.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119877_8826891185.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119904_9276891185.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119949_9716891185.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119992_10056891185.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-11211028_10396891177.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-11211061_12206891177.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121440_8556891177.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121877_8826891177.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121904_9276891177.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121949_9716891177.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121992_10056891177.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-12211028_10396891221.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-12211061_12206891221.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221440_8556891221.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221877_8826891221.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221904_9276891221.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221949_9716891221.0Topological domainExtracellular
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221992_10056891221.0Topological domainCytoplasmic
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-11201006_10276891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-11201040_10606891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120856_8766891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120883_9036891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120928_9486891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000261173-1120972_9916891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-11191006_10276891185.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-11191040_10606891185.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119856_8766891185.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119883_9036891185.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119928_9486891185.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000348959-1119972_9916891185.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-11211006_10276891177.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-11211040_10606891177.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121856_8766891177.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121883_9036891177.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121928_9486891177.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000359142-1121972_9916891177.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-12211006_10276891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-12211040_10606891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221856_8766891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221883_9036891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221928_9486891221.0TransmembraneHelical
HgeneATP2B1chr12:90010579chr12:88478629ENST00000428670-1221972_9916891221.0TransmembraneHelical
TgeneCEP290chr12:90010579chr12:88478629ENST00000397838254659_5655391540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST0000054769182959_5655391540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST0000055281033541071_149814792480.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST000005528103354598_66414792480.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST00000552810335459_56514792480.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST000005528103354697_93114792480.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST000005528103354958_102714792480.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:90010579chr12:88478629ENST0000039783825461_6955391540.0RegionSelf-association (with itself or C-terminus)
TgeneCEP290chr12:90010579chr12:88478629ENST000005476918291_6955391540.0RegionSelf-association (with itself or C-terminus)
TgeneCEP290chr12:90010579chr12:88478629ENST0000055281033541_69514792480.0RegionSelf-association (with itself or C-terminus)


Top

Fusion Gene Sequence for ATP2B1-CEP290


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>7848_7848_1_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000261173_CEP290_chr12_88478629_ENST00000309041_length(transcript)=5251nt_BP=2248nt
GGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCTGCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAAAGATTT
TCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATTAAATTCTTTTGGGAAACATTTTCCTTCTGATATATTATACTTGT
AATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAAAACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGGAATTAC
GCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCATTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGGAATTTG
CACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCTGCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAATTTTAT
ACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCATTACAAGATGTCACTTTAATTATATTAGAAATTGCAGCCATAGT
ATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCACTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGAAGGTGA
AACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGTGTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGAAAAACA
GTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACTGTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGCTGACAT
TACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCAGCTGACGGCATACTTATTCAAGGCAACGATCTTAAAATTGATGA
AAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGATAAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGAAGGCTC
TGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAA
GAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGC
CATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATC
TGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATT
ATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCTGAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTT
CATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAAT
GATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTT
GACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATAT
TTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCA
CGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTAAAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGA
AGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAG
CAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGA
TGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACC
AGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAA
ACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCC
TGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCA
AACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCA
AAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAA
ACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGT
AGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATT
AAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTT
AAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAAC
AACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGA
ACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGT
TGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAA
CAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAA
AGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAA
ACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTAT
GAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAA
AGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTT
GCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAA
AAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTT
ACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGA
GTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGA
ACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGT
TCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGT
AGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAA
TGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGA
AAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTT
AGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGG
TGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAA
TCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACA
GATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCA
GCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCA
ACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAA
AAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCT
CTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGATGAAGA

>7848_7848_1_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000261173_CEP290_chr12_88478629_ENST00000309041_length(amino acids)=1690AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

--------------------------------------------------------------
>7848_7848_2_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000261173_CEP290_chr12_88478629_ENST00000397838_length(transcript)=5251nt_BP=2248nt
GGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCTGCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAAAGATTT
TCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATTAAATTCTTTTGGGAAACATTTTCCTTCTGATATATTATACTTGT
AATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAAAACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGGAATTAC
GCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCATTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGGAATTTG
CACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCTGCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAATTTTAT
ACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCATTACAAGATGTCACTTTAATTATATTAGAAATTGCAGCCATAGT
ATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCACTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGAAGGTGA
AACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGTGTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGAAAAACA
GTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACTGTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGCTGACAT
TACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCAGCTGACGGCATACTTATTCAAGGCAACGATCTTAAAATTGATGA
AAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGATAAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGAAGGCTC
TGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAA
GAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGC
CATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATC
TGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATT
ATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCTGAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTT
CATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAAT
GATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTT
GACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATAT
TTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCA
CGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTAAAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGA
AGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAG
CAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGA
TGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACC
AGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAA
ACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCC
TGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCA
AACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCA
AAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAA
ACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGT
AGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATT
AAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTT
AAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAAC
AACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGA
ACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGT
TGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAA
CAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAA
AGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAA
ACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTAT
GAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAA
AGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTT
GCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAA
AAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTT
ACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGA
GTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGA
ACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGT
TCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGT
AGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAA
TGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGA
AAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTT
AGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGG
TGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAA
TCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACA
GATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCA
GCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCA
ACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAA
AAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCT
CTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGATGAAGA

>7848_7848_2_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000261173_CEP290_chr12_88478629_ENST00000397838_length(amino acids)=1690AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

--------------------------------------------------------------
>7848_7848_3_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000261173_CEP290_chr12_88478629_ENST00000547691_length(transcript)=5419nt_BP=2248nt
GGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCTGCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAAAGATTT
TCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATTAAATTCTTTTGGGAAACATTTTCCTTCTGATATATTATACTTGT
AATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAAAACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGGAATTAC
GCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCATTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGGAATTTG
CACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCTGCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAATTTTAT
ACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCATTACAAGATGTCACTTTAATTATATTAGAAATTGCAGCCATAGT
ATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCACTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGAAGGTGA
AACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGTGTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGAAAAACA
GTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACTGTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGCTGACAT
TACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCAGCTGACGGCATACTTATTCAAGGCAACGATCTTAAAATTGATGA
AAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGATAAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGAAGGCTC
TGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAA
GAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGC
CATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATC
TGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATT
ATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCTGAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTT
CATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAAT
GATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTT
GACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATAT
TTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCA
CGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTAAAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGA
AGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAG
CAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGA
TGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACC
AGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAA
ACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCC
TGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCA
AACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCA
AAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAA
ACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGT
AGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATT
AAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTT
AAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAAC
AACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGA
ACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGT
TGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAA
CAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAA
AGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAA
ACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTAT
GAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAA
AGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTT
GCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAA
AAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTT
ACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGA
GTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGA
ACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGT
TCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGT
AGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAA
TGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGA
AAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTT
AGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGG
TGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAA
TCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACA
GATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCA
GCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCA
ACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAA
AAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCT
CTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGATGAAGA
AGAAAGTCCTGTTAATTTCCCCATTTACTAAAGGTCACCTATAAACTTTGTTTCATTTAACTATTTATTAACTTTATAAGTTAAATATAC
TTGGAAATAAGCAGTTCTCCGAACTGTAGTATTTCCTTCTCACTACCTTGTACCTTTATACTTAGATTGGAATTCTTAATAAATAAAATT

>7848_7848_3_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000261173_CEP290_chr12_88478629_ENST00000547691_length(amino acids)=1689AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

--------------------------------------------------------------
>7848_7848_4_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000261173_CEP290_chr12_88478629_ENST00000552810_length(transcript)=5415nt_BP=2248nt
GGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCTGCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAAAGATTT
TCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATTAAATTCTTTTGGGAAACATTTTCCTTCTGATATATTATACTTGT
AATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAAAACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGGAATTAC
GCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCATTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGGAATTTG
CACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCTGCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAATTTTAT
ACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCATTACAAGATGTCACTTTAATTATATTAGAAATTGCAGCCATAGT
ATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCACTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGAAGGTGA
AACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGTGTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGAAAAACA
GTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACTGTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGCTGACAT
TACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCAGCTGACGGCATACTTATTCAAGGCAACGATCTTAAAATTGATGA
AAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGATAAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGAAGGCTC
TGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAA
GAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGC
CATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATC
TGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATT
ATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCTGAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTT
CATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAAT
GATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTT
GACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATAT
TTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCA
CGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTAAAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGA
AGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAG
CAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGA
TGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACC
AGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAA
ACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCC
TGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCA
AACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCA
AAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAA
ACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGT
AGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATT
AAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTT
AAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAAC
AACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGA
ACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGT
TGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAA
CAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAA
AGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAA
ACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTAT
GAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAA
AGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTT
GCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAA
AAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTT
ACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGA
GTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGA
ACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGT
TCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGT
AGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAA
TGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGA
AAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTT
AGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGG
TGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAA
TCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACA
GATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCA
GCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCA
ACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAA
AAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCT
CTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGATGAAGA
AGAAAGTCCTGTTAATTTCCCCATTTACTAAAGGTCACCTATAAACTTTGTTTCATTTAACTATTTATTAACTTTATAAGTTAAATATAC
TTGGAAATAAGCAGTTCTCCGAACTGTAGTATTTCCTTCTCACTACCTTGTACCTTTATACTTAGATTGGAATTCTTAATAAATAAAATT

>7848_7848_4_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000261173_CEP290_chr12_88478629_ENST00000552810_length(amino acids)=1689AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

--------------------------------------------------------------
>7848_7848_5_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000348959_CEP290_chr12_88478629_ENST00000309041_length(transcript)=5251nt_BP=2248nt
GGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCTGCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAAAGATTT
TCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATTAAATTCTTTTGGGAAACATTTTCCTTCTGATATATTATACTTGT
AATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAAAACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGGAATTAC
GCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCATTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGGAATTTG
CACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCTGCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAATTTTAT
ACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCATTACAAGATGTCACTTTAATTATATTAGAAATTGCAGCCATAGT
ATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCACTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGAAGGTGA
AACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGTGTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGAAAAACA
GTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACTGTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGCTGACAT
TACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCAGCTGACGGCATACTTATTCAAGGCAACGATCTTAAAATTGATGA
AAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGATAAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGAAGGCTC
TGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAA
GAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGC
CATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATC
TGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATT
ATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCTGAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTT
CATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAAT
GATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTT
GACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATAT
TTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCA
CGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTAAAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGA
AGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAG
CAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGA
TGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACC
AGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAA
ACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCC
TGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCA
AACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCA
AAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAA
ACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGT
AGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATT
AAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTT
AAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAAC
AACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGA
ACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGT
TGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAA
CAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAA
AGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAA
ACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTAT
GAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAA
AGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTT
GCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAA
AAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTT
ACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGA
GTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGA
ACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGT
TCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGT
AGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAA
TGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGA
AAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTT
AGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGG
TGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAA
TCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACA
GATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCA
GCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCA
ACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAA
AAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCT
CTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGATGAAGA

>7848_7848_5_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000348959_CEP290_chr12_88478629_ENST00000309041_length(amino acids)=1690AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

--------------------------------------------------------------
>7848_7848_6_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000348959_CEP290_chr12_88478629_ENST00000397838_length(transcript)=5251nt_BP=2248nt
GGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCTGCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAAAGATTT
TCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATTAAATTCTTTTGGGAAACATTTTCCTTCTGATATATTATACTTGT
AATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAAAACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGGAATTAC
GCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCATTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGGAATTTG
CACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCTGCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAATTTTAT
ACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCATTACAAGATGTCACTTTAATTATATTAGAAATTGCAGCCATAGT
ATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCACTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGAAGGTGA
AACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGTGTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGAAAAACA
GTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACTGTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGCTGACAT
TACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCAGCTGACGGCATACTTATTCAAGGCAACGATCTTAAAATTGATGA
AAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGATAAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGAAGGCTC
TGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAA
GAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGC
CATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATC
TGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATT
ATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCTGAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTT
CATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAAT
GATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTT
GACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATAT
TTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCA
CGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTAAAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGA
AGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAG
CAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGA
TGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACC
AGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAA
ACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCC
TGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCA
AACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCA
AAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAA
ACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGT
AGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATT
AAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTT
AAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAAC
AACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGA
ACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGT
TGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAA
CAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAA
AGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAA
ACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTAT
GAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAA
AGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTT
GCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAA
AAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTT
ACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGA
GTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGA
ACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGT
TCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGT
AGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAA
TGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGA
AAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTT
AGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGG
TGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAA
TCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACA
GATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCA
GCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCA
ACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAA
AAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCT
CTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGATGAAGA

>7848_7848_6_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000348959_CEP290_chr12_88478629_ENST00000397838_length(amino acids)=1690AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

--------------------------------------------------------------
>7848_7848_7_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000348959_CEP290_chr12_88478629_ENST00000547691_length(transcript)=5419nt_BP=2248nt
GGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCTGCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAAAGATTT
TCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATTAAATTCTTTTGGGAAACATTTTCCTTCTGATATATTATACTTGT
AATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAAAACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGGAATTAC
GCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCATTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGGAATTTG
CACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCTGCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAATTTTAT
ACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCATTACAAGATGTCACTTTAATTATATTAGAAATTGCAGCCATAGT
ATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCACTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGAAGGTGA
AACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGTGTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGAAAAACA
GTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACTGTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGCTGACAT
TACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCAGCTGACGGCATACTTATTCAAGGCAACGATCTTAAAATTGATGA
AAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGATAAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGAAGGCTC
TGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAA
GAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGC
CATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATC
TGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATT
ATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCTGAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTT
CATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAAT
GATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTT
GACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATAT
TTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCA
CGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTAAAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGA
AGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAG
CAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGA
TGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACC
AGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAA
ACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCC
TGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCA
AACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCA
AAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAA
ACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGT
AGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATT
AAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTT
AAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAAC
AACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGA
ACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGT
TGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAA
CAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAA
AGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAA
ACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTAT
GAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAA
AGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTT
GCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAA
AAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTT
ACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGA
GTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGA
ACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGT
TCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGT
AGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAA
TGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGA
AAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTT
AGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGG
TGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAA
TCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACA
GATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCA
GCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCA
ACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAA
AAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCT
CTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGATGAAGA
AGAAAGTCCTGTTAATTTCCCCATTTACTAAAGGTCACCTATAAACTTTGTTTCATTTAACTATTTATTAACTTTATAAGTTAAATATAC
TTGGAAATAAGCAGTTCTCCGAACTGTAGTATTTCCTTCTCACTACCTTGTACCTTTATACTTAGATTGGAATTCTTAATAAATAAAATT

>7848_7848_7_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000348959_CEP290_chr12_88478629_ENST00000547691_length(amino acids)=1689AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

--------------------------------------------------------------
>7848_7848_8_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000348959_CEP290_chr12_88478629_ENST00000552810_length(transcript)=5415nt_BP=2248nt
GGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCTGCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAAAGATTT
TCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATTAAATTCTTTTGGGAAACATTTTCCTTCTGATATATTATACTTGT
AATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAAAACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGGAATTAC
GCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCATTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGGAATTTG
CACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCTGCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAATTTTAT
ACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCATTACAAGATGTCACTTTAATTATATTAGAAATTGCAGCCATAGT
ATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCACTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGAAGGTGA
AACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGTGTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGAAAAACA
GTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACTGTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGCTGACAT
TACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCAGCTGACGGCATACTTATTCAAGGCAACGATCTTAAAATTGATGA
AAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGATAAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGAAGGCTC
TGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAA
GAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGC
CATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATC
TGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATT
ATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCTGAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTT
CATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAAT
GATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTT
GACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATAT
TTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCA
CGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTAAAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGA
AGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAG
CAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGA
TGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACC
AGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAA
ACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCC
TGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCA
AACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCA
AAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAA
ACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGT
AGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATT
AAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTT
AAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAAC
AACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGA
ACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGT
TGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAA
CAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAA
AGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAA
ACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTAT
GAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAA
AGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTT
GCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAA
AAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTT
ACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGA
GTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGA
ACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGT
TCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGT
AGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAA
TGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGA
AAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTT
AGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGG
TGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAA
TCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACA
GATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCA
GCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCA
ACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAA
AAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCT
CTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGATGAAGA
AGAAAGTCCTGTTAATTTCCCCATTTACTAAAGGTCACCTATAAACTTTGTTTCATTTAACTATTTATTAACTTTATAAGTTAAATATAC
TTGGAAATAAGCAGTTCTCCGAACTGTAGTATTTCCTTCTCACTACCTTGTACCTTTATACTTAGATTGGAATTCTTAATAAATAAAATT

>7848_7848_8_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000348959_CEP290_chr12_88478629_ENST00000552810_length(amino acids)=1689AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

--------------------------------------------------------------
>7848_7848_9_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000359142_CEP290_chr12_88478629_ENST00000309041_length(transcript)=5295nt_BP=2292nt
ACAGATGTGTATATCTCATGATTGATATGGAGAAACTAGTCATGGGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCT
GCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAAAGATTTTCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATT
AAATTCTTTTGGGAAACATTTTCCTTCTGATATATTATACTTGTAATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAA
AACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGGAATTACGCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCA
TTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGGAATTTGCACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCT
GCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAATTTTATACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCA
TTACAAGATGTCACTTTAATTATATTAGAAATTGCAGCCATAGTATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCA
CTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGAAGGTGAAACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGT
GTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGAAAAACAGTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACT
GTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGCTGACATTACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCA
GCTGACGGCATACTTATTCAAGGCAACGATCTTAAAATTGATGAAAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGAT
AAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGAAGGCTCTGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGA
ATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAAGAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGA
GCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGCCATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGAT
GAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATCTGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAA
GCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATTATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTT
GCTGAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTTCATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTT
CCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAATGATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACC
ATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTTGACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAA
CATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATATTTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACA
TCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCACGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGAT
TTAAAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGAAGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATG
AGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAGCAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTG
AGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGATGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTG
AGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACCAGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACA
TGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATA
CTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAA
GAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTA
TTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCAT
CACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCT
ACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAG
AAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAAC
CATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAA
TCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCC
TTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCT
GCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAAT
GAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAA
CTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAA
AGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAG
AACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGT
AAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACT
TTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTG
GGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCC
CACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAG
TTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAAC
TTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGAT
TTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAG
ACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCA
GGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGG
CATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAA
GAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGT
AAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTAT
GAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAG
AGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAA
GGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAAC
AAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCA
GATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAA
GATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAA

>7848_7848_9_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000359142_CEP290_chr12_88478629_ENST00000309041_length(amino acids)=1689AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

--------------------------------------------------------------
>7848_7848_10_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000359142_CEP290_chr12_88478629_ENST00000397838_length(transcript)=5295nt_BP=2292nt
ACAGATGTGTATATCTCATGATTGATATGGAGAAACTAGTCATGGGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCT
GCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAAAGATTTTCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATT
AAATTCTTTTGGGAAACATTTTCCTTCTGATATATTATACTTGTAATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAA
AACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGGAATTACGCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCA
TTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGGAATTTGCACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCT
GCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAATTTTATACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCA
TTACAAGATGTCACTTTAATTATATTAGAAATTGCAGCCATAGTATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCA
CTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGAAGGTGAAACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGT
GTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGAAAAACAGTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACT
GTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGCTGACATTACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCA
GCTGACGGCATACTTATTCAAGGCAACGATCTTAAAATTGATGAAAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGAT
AAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGAAGGCTCTGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGA
ATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAAGAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGA
GCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGCCATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGAT
GAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATCTGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAA
GCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATTATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTT
GCTGAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTTCATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTT
CCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAATGATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACC
ATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTTGACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAA
CATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATATTTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACA
TCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCACGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGAT
TTAAAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGAAGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATG
AGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAGCAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTG
AGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGATGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTG
AGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACCAGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACA
TGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATA
CTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAA
GAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTA
TTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCAT
CACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCT
ACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAG
AAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAAC
CATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAA
TCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCC
TTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCT
GCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAAT
GAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAA
CTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAA
AGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAG
AACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGT
AAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACT
TTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTG
GGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCC
CACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAG
TTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAAC
TTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGAT
TTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAG
ACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCA
GGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGG
CATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAA
GAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGT
AAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTAT
GAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAG
AGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAA
GGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAAC
AAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCA
GATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAA
GATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAA

>7848_7848_10_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000359142_CEP290_chr12_88478629_ENST00000397838_length(amino acids)=1689AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

--------------------------------------------------------------
>7848_7848_11_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000359142_CEP290_chr12_88478629_ENST00000547691_length(transcript)=5463nt_BP=2292nt
ACAGATGTGTATATCTCATGATTGATATGGAGAAACTAGTCATGGGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCT
GCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAAAGATTTTCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATT
AAATTCTTTTGGGAAACATTTTCCTTCTGATATATTATACTTGTAATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAA
AACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGGAATTACGCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCA
TTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGGAATTTGCACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCT
GCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAATTTTATACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCA
TTACAAGATGTCACTTTAATTATATTAGAAATTGCAGCCATAGTATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCA
CTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGAAGGTGAAACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGT
GTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGAAAAACAGTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACT
GTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGCTGACATTACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCA
GCTGACGGCATACTTATTCAAGGCAACGATCTTAAAATTGATGAAAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGAT
AAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGAAGGCTCTGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGA
ATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAAGAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGA
GCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGCCATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGAT
GAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATCTGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAA
GCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATTATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTT
GCTGAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTTCATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTT
CCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAATGATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACC
ATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTTGACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAA
CATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATATTTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACA
TCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCACGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGAT
TTAAAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGAAGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATG
AGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAGCAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTG
AGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGATGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTG
AGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACCAGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACA
TGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATA
CTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAA
GAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTA
TTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCAT
CACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCT
ACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAG
AAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAAC
CATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAA
TCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCC
TTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCT
GCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAAT
GAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAA
CTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAA
AGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAG
AACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGT
AAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACT
TTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTG
GGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCC
CACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAG
TTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAAC
TTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGAT
TTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAG
ACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCA
GGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGG
CATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAA
GAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGT
AAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTAT
GAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAG
AGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAA
GGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAAC
AAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCA
GATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAA
GATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAA
TTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGATGAAGAAGAAAGTCCTGTTAATTTCCCCATTTACTAAAGGTCACCTATAAAC
TTTGTTTCATTTAACTATTTATTAACTTTATAAGTTAAATATACTTGGAAATAAGCAGTTCTCCGAACTGTAGTATTTCCTTCTCACTAC

>7848_7848_11_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000359142_CEP290_chr12_88478629_ENST00000547691_length(amino acids)=1689AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

--------------------------------------------------------------
>7848_7848_12_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000359142_CEP290_chr12_88478629_ENST00000552810_length(transcript)=5459nt_BP=2292nt
ACAGATGTGTATATCTCATGATTGATATGGAGAAACTAGTCATGGGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCT
GCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAAAGATTTTCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATT
AAATTCTTTTGGGAAACATTTTCCTTCTGATATATTATACTTGTAATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAA
AACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGGAATTACGCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCA
TTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGGAATTTGCACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCT
GCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAATTTTATACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCA
TTACAAGATGTCACTTTAATTATATTAGAAATTGCAGCCATAGTATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCA
CTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGAAGGTGAAACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGT
GTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGAAAAACAGTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACT
GTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGCTGACATTACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCA
GCTGACGGCATACTTATTCAAGGCAACGATCTTAAAATTGATGAAAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGAT
AAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGAAGGCTCTGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGA
ATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAAGAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGA
GCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGCCATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGAT
GAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATCTGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAA
GCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATTATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTT
GCTGAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTTCATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTT
CCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAATGATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACC
ATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTTGACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAA
CATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATATTTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACA
TCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCACGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGAT
TTAAAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGAAGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATG
AGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAGCAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTG
AGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGATGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTG
AGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACCAGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACA
TGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATA
CTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAA
GAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTA
TTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCAT
CACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCT
ACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAG
AAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAAC
CATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAA
TCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCC
TTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCT
GCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAAT
GAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAA
CTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAA
AGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAG
AACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGT
AAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACT
TTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTG
GGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCC
CACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAG
TTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAAC
TTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGAT
TTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAG
ACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCA
GGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGG
CATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAA
GAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGT
AAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTAT
GAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAG
AGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAA
GGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAAC
AAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCA
GATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAA
GATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAA
TTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGATGAAGAAGAAAGTCCTGTTAATTTCCCCATTTACTAAAGGTCACCTATAAAC
TTTGTTTCATTTAACTATTTATTAACTTTATAAGTTAAATATACTTGGAAATAAGCAGTTCTCCGAACTGTAGTATTTCCTTCTCACTAC

>7848_7848_12_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000359142_CEP290_chr12_88478629_ENST00000552810_length(amino acids)=1689AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

--------------------------------------------------------------
>7848_7848_13_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000393164_CEP290_chr12_88478629_ENST00000309041_length(transcript)=4392nt_BP=1389nt
TTTCCTAAATGTTGAGGCTGTTAAAAACAATATTACTGAAGTTTGAAATTTGGTGGTAGCAAGGAGATCTATCAGTATTTTTAAAAACAA
ACTATGTTTTTGGTTATAGGTACTCATGTAATGGAAGGCTCTGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATT
ATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAAGAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCT
ATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGCCATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAA
AAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATCTGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCA
GGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATTATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCT
GAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTTCATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCA
CTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAATGATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATG
GGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTTGACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACAT
TATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATATTTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCA
AAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCACGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTA
AAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGAAGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGT
ACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAGCAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGT
GCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGATGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGA
ACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACCAGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGC
ATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTG
TCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAG
ATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTA
AAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCAC
AGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACC
AACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAA
GTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCAT
GAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCT
GAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTG
AAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCA
ACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAA
AATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTG
CAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGA
CTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAAC
CAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAA
AAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTG
AAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGA
ATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCAC
CAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTT
TCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTG
AAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTG
AAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACA
ATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGA
ATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCAT
CAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAA
ACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAG
AGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAA
ACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGA
GAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGC
CTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAG
GACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGAT
CTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGAT
CTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTA

>7848_7848_13_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000393164_CEP290_chr12_88478629_ENST00000309041_length(amino acids)=1432AA_BP=432
MFLVIGTHVMEGSGRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEK
DKKKANLPKKEKSVLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPL
AVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSK
ILPPEKEGGLPRHVGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSA
NGEAKVFRPRDRDDIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILS
RDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHR
LELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHE
DEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISAT
SQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRL
TSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLK
DLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFS
KDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTI
PELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKET
DAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATERE
QKVNKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDL

--------------------------------------------------------------
>7848_7848_14_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000393164_CEP290_chr12_88478629_ENST00000397838_length(transcript)=4392nt_BP=1389nt
TTTCCTAAATGTTGAGGCTGTTAAAAACAATATTACTGAAGTTTGAAATTTGGTGGTAGCAAGGAGATCTATCAGTATTTTTAAAAACAA
ACTATGTTTTTGGTTATAGGTACTCATGTAATGGAAGGCTCTGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATT
ATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAAGAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCT
ATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGCCATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAA
AAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATCTGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCA
GGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATTATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCT
GAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTTCATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCA
CTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAATGATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATG
GGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTTGACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACAT
TATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATATTTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCA
AAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCACGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTA
AAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGAAGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGT
ACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAGCAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGT
GCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGATGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGA
ACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACCAGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGC
ATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTG
TCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAG
ATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTA
AAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCAC
AGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACC
AACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAA
GTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCAT
GAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCT
GAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTG
AAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCA
ACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAA
AATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTG
CAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGA
CTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAAC
CAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAA
AAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTG
AAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGA
ATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCAC
CAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTT
TCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTG
AAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTG
AAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACA
ATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGA
ATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCAT
CAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAA
ACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAG
AGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAA
ACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGA
GAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGC
CTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAG
GACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGAT
CTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGAT
CTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTA

>7848_7848_14_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000393164_CEP290_chr12_88478629_ENST00000397838_length(amino acids)=1432AA_BP=432
MFLVIGTHVMEGSGRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEK
DKKKANLPKKEKSVLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPL
AVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSK
ILPPEKEGGLPRHVGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSA
NGEAKVFRPRDRDDIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILS
RDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHR
LELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHE
DEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISAT
SQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRL
TSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLK
DLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFS
KDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTI
PELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKET
DAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATERE
QKVNKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDL

--------------------------------------------------------------
>7848_7848_15_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000393164_CEP290_chr12_88478629_ENST00000547691_length(transcript)=4560nt_BP=1389nt
TTTCCTAAATGTTGAGGCTGTTAAAAACAATATTACTGAAGTTTGAAATTTGGTGGTAGCAAGGAGATCTATCAGTATTTTTAAAAACAA
ACTATGTTTTTGGTTATAGGTACTCATGTAATGGAAGGCTCTGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATT
ATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAAGAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCT
ATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGCCATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAA
AAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATCTGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCA
GGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATTATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCT
GAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTTCATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCA
CTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAATGATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATG
GGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTTGACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACAT
TATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATATTTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCA
AAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCACGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTA
AAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGAAGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGT
ACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAGCAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGT
GCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGATGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGA
ACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACCAGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGC
ATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTG
TCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAG
ATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTA
AAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCAC
AGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACC
AACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAA
GTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCAT
GAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCT
GAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTG
AAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCA
ACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAA
AATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTG
CAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGA
CTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAAC
CAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAA
AAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTG
AAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGA
ATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCAC
CAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTT
TCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTG
AAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTG
AAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACA
ATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGA
ATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCAT
CAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAA
ACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAG
AGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAA
ACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGA
GAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGC
CTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAG
GACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGAT
CTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGAT
CTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTA
ACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGATGAAGAAGAAAGTCCTGTTAATTTCCCCATTTACTAAAGGTCACCTATAAACTTT
GTTTCATTTAACTATTTATTAACTTTATAAGTTAAATATACTTGGAAATAAGCAGTTCTCCGAACTGTAGTATTTCCTTCTCACTACCTT

>7848_7848_15_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000393164_CEP290_chr12_88478629_ENST00000547691_length(amino acids)=1432AA_BP=432
MFLVIGTHVMEGSGRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEK
DKKKANLPKKEKSVLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPL
AVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSK
ILPPEKEGGLPRHVGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSA
NGEAKVFRPRDRDDIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILS
RDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHR
LELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHE
DEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISAT
SQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRL
TSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLK
DLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFS
KDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTI
PELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKET
DAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATERE
QKVNKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDL

--------------------------------------------------------------
>7848_7848_16_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000393164_CEP290_chr12_88478629_ENST00000552810_length(transcript)=4556nt_BP=1389nt
TTTCCTAAATGTTGAGGCTGTTAAAAACAATATTACTGAAGTTTGAAATTTGGTGGTAGCAAGGAGATCTATCAGTATTTTTAAAAACAA
ACTATGTTTTTGGTTATAGGTACTCATGTAATGGAAGGCTCTGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATT
ATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGAAGAGAAGAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCT
ATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGGTGCAGCCATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAA
AAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGAAAAATCTGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCA
GGTCTGTTGATGTCTGCCATCACAGTTATCATTCTAGTATTATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCT
GAGTGCACACCAATTTATATACAATACTTTGTGAAGTTCTTCATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCA
CTTGCAGTCACGATCTCACTGGCTTATTCAGTCAAAAAAATGATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATG
GGAAATGCTACAGCTATTTGTTCAGATAAAACAGGAACTTTGACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACAT
TATAAAAAGGTTCCTGAACCAGAAGCTATTCCACCAAATATTTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCA
AAAATATTGCCACCAGAGAAAGAGGGTGGATTACCTCGTCACGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTA
AAACGGGATTATCAGGATGTTAGAAATGAAATACCAGAAGAAGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGT
ACTGTCCTGAAAAATTCAGATGGAAGTTATCGAATATTCAGCAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGT
GCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGACCGTGATGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGA
ACCATATGTCTTGCATTCAGAGATTTTCCAGCAGGAGAACCAGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGC
ATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACCTGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTG
TCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAG
ATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTA
AAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCAC
AGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACC
AACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAA
GTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCAT
GAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCT
GAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTG
AAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCA
ACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAA
AATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTG
CAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGA
CTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAAC
CAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAA
AAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTG
AAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGA
ATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCAC
CAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTT
TCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTG
AAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTG
AAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACA
ATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGA
ATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCAT
CAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAA
ACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAG
AGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAA
ACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGA
GAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGC
CTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAG
GACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGAT
CTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGAT
CTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTA
ACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGATGAAGAAGAAAGTCCTGTTAATTTCCCCATTTACTAAAGGTCACCTATAAACTTT
GTTTCATTTAACTATTTATTAACTTTATAAGTTAAATATACTTGGAAATAAGCAGTTCTCCGAACTGTAGTATTTCCTTCTCACTACCTT

>7848_7848_16_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000393164_CEP290_chr12_88478629_ENST00000552810_length(amino acids)=1432AA_BP=432
MFLVIGTHVMEGSGRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEK
DKKKANLPKKEKSVLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPL
AVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSK
ILPPEKEGGLPRHVGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSA
NGEAKVFRPRDRDDIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILS
RDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHR
LELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHE
DEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISAT
SQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRL
TSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLK
DLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFS
KDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTI
PELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKET
DAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATERE
QKVNKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDL

--------------------------------------------------------------
>7848_7848_17_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000428670_CEP290_chr12_88478629_ENST00000309041_length(transcript)=5527nt_BP=2524nt
AGCGTGAGTAGGGAGCCCCGGCTGGTGGACGCCGAGCCTCTCGGCTCCTTGGCCGCCCCATCCCCGAGGTGCAGCTGCACCTCCGCGTGG
CGCCCCGAGCCCTGCGAGCCGGCTGCGGACGCGCTGAGGACGGAGCCCCCATCCTCTGCGTTTCCCGCTGCCCCTTAACGCCCCGCGACC
CTCCCGCAGCCTGCCTTTCCTTCCCCCTCGGAAAATGGTTCCCACTGCCGGGCGAGATGTGTATATCTCATGATTGATATGGAGAAACTA
GTCATGGGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCTGCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAA
AGATTTTCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATTAAATTCTTTTGGGAAACATTTTCCTTCTGATATATTAT
ACTTGTAATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAAAACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGG
AATTACGCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCATTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGG
AATTTGCACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCTGCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAA
TTTTATACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCATTACAAGATGTCACTTTAATTATATTAGAAATTGCAGC
CATAGTATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCACTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGA
AGGTGAAACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGTGTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGA
AAAACAGTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACTGTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGC
TGACATTACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCAGCTGACGGCATACTTATTCAAGGCAACGATCTTAAAAT
TGATGAAAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGATAAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGA
AGGCTCTGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGA
AGAGAAGAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGG
TGCAGCCATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGA
AAAATCTGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCT
AGTATTATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCTGAGTGCACACCAATTTATATACAATACTTTGTGAA
GTTCTTCATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAA
AAAAATGATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGG
AACTTTGACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACC
AAATATTTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACC
TCGTCACGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTAAAACGGGATTATCAGGATGTTAGAAATGAAATACC
AGAAGAAGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAAT
ATTCAGCAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGA
CCGTGATGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGG
AGAACCAGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACC
TGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCG
ATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGC
TCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGA
GGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAA
ATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACA
GACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCAC
TGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGA
GGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGC
TCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACT
TTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACA
AATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAG
TAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAG
AGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGA
TAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAA
ACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAA
GTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACT
TACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGA
ATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTT
ACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGG
AATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCA
GCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGC
AGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAA
AAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCA
GGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGG
CACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAA
TAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCT
TGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAA
AAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGA
ACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAA
TCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGC
TGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAA
GCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAA
TATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGA

>7848_7848_17_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000428670_CEP290_chr12_88478629_ENST00000309041_length(amino acids)=1690AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

--------------------------------------------------------------
>7848_7848_18_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000428670_CEP290_chr12_88478629_ENST00000397838_length(transcript)=5527nt_BP=2524nt
AGCGTGAGTAGGGAGCCCCGGCTGGTGGACGCCGAGCCTCTCGGCTCCTTGGCCGCCCCATCCCCGAGGTGCAGCTGCACCTCCGCGTGG
CGCCCCGAGCCCTGCGAGCCGGCTGCGGACGCGCTGAGGACGGAGCCCCCATCCTCTGCGTTTCCCGCTGCCCCTTAACGCCCCGCGACC
CTCCCGCAGCCTGCCTTTCCTTCCCCCTCGGAAAATGGTTCCCACTGCCGGGCGAGATGTGTATATCTCATGATTGATATGGAGAAACTA
GTCATGGGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCTGCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAA
AGATTTTCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATTAAATTCTTTTGGGAAACATTTTCCTTCTGATATATTAT
ACTTGTAATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAAAACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGG
AATTACGCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCATTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGG
AATTTGCACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCTGCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAA
TTTTATACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCATTACAAGATGTCACTTTAATTATATTAGAAATTGCAGC
CATAGTATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCACTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGA
AGGTGAAACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGTGTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGA
AAAACAGTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACTGTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGC
TGACATTACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCAGCTGACGGCATACTTATTCAAGGCAACGATCTTAAAAT
TGATGAAAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGATAAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGA
AGGCTCTGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGA
AGAGAAGAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGG
TGCAGCCATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGA
AAAATCTGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCT
AGTATTATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCTGAGTGCACACCAATTTATATACAATACTTTGTGAA
GTTCTTCATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAA
AAAAATGATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGG
AACTTTGACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACC
AAATATTTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACC
TCGTCACGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTAAAACGGGATTATCAGGATGTTAGAAATGAAATACC
AGAAGAAGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAAT
ATTCAGCAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGA
CCGTGATGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGG
AGAACCAGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACC
TGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCG
ATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGC
TCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGA
GGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAA
ATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACA
GACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCAC
TGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGA
GGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGC
TCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACT
TTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACA
AATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAG
TAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAG
AGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGA
TAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAA
ACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAA
GTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACT
TACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGA
ATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTT
ACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGG
AATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCA
GCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGC
AGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAA
AAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCA
GGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGG
CACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAA
TAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCT
TGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAA
AAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGA
ACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAA
TCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGC
TGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAA
GCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAA
TATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGA

>7848_7848_18_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000428670_CEP290_chr12_88478629_ENST00000397838_length(amino acids)=1690AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

--------------------------------------------------------------
>7848_7848_19_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000428670_CEP290_chr12_88478629_ENST00000547691_length(transcript)=5695nt_BP=2524nt
AGCGTGAGTAGGGAGCCCCGGCTGGTGGACGCCGAGCCTCTCGGCTCCTTGGCCGCCCCATCCCCGAGGTGCAGCTGCACCTCCGCGTGG
CGCCCCGAGCCCTGCGAGCCGGCTGCGGACGCGCTGAGGACGGAGCCCCCATCCTCTGCGTTTCCCGCTGCCCCTTAACGCCCCGCGACC
CTCCCGCAGCCTGCCTTTCCTTCCCCCTCGGAAAATGGTTCCCACTGCCGGGCGAGATGTGTATATCTCATGATTGATATGGAGAAACTA
GTCATGGGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCTGCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAA
AGATTTTCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATTAAATTCTTTTGGGAAACATTTTCCTTCTGATATATTAT
ACTTGTAATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAAAACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGG
AATTACGCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCATTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGG
AATTTGCACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCTGCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAA
TTTTATACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCATTACAAGATGTCACTTTAATTATATTAGAAATTGCAGC
CATAGTATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCACTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGA
AGGTGAAACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGTGTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGA
AAAACAGTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACTGTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGC
TGACATTACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCAGCTGACGGCATACTTATTCAAGGCAACGATCTTAAAAT
TGATGAAAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGATAAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGA
AGGCTCTGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGA
AGAGAAGAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGG
TGCAGCCATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGA
AAAATCTGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCT
AGTATTATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCTGAGTGCACACCAATTTATATACAATACTTTGTGAA
GTTCTTCATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAA
AAAAATGATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGG
AACTTTGACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACC
AAATATTTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACC
TCGTCACGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTAAAACGGGATTATCAGGATGTTAGAAATGAAATACC
AGAAGAAGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAAT
ATTCAGCAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGA
CCGTGATGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGG
AGAACCAGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACC
TGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCG
ATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGC
TCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGA
GGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAA
ATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACA
GACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCAC
TGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGA
GGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGC
TCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACT
TTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACA
AATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAG
TAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAG
AGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGA
TAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAA
ACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAA
GTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACT
TACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGA
ATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTT
ACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGG
AATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCA
GCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGC
AGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAA
AAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCA
GGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGG
CACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAA
TAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCT
TGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAA
AAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGA
ACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAA
TCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGC
TGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAA
GCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAA
TATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGA
TGAAGAAGAAAGTCCTGTTAATTTCCCCATTTACTAAAGGTCACCTATAAACTTTGTTTCATTTAACTATTTATTAACTTTATAAGTTAA
ATATACTTGGAAATAAGCAGTTCTCCGAACTGTAGTATTTCCTTCTCACTACCTTGTACCTTTATACTTAGATTGGAATTCTTAATAAAT

>7848_7848_19_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000428670_CEP290_chr12_88478629_ENST00000547691_length(amino acids)=1689AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

--------------------------------------------------------------
>7848_7848_20_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000428670_CEP290_chr12_88478629_ENST00000552810_length(transcript)=5691nt_BP=2524nt
AGCGTGAGTAGGGAGCCCCGGCTGGTGGACGCCGAGCCTCTCGGCTCCTTGGCCGCCCCATCCCCGAGGTGCAGCTGCACCTCCGCGTGG
CGCCCCGAGCCCTGCGAGCCGGCTGCGGACGCGCTGAGGACGGAGCCCCCATCCTCTGCGTTTCCCGCTGCCCCTTAACGCCCCGCGACC
CTCCCGCAGCCTGCCTTTCCTTCCCCCTCGGAAAATGGTTCCCACTGCCGGGCGAGATGTGTATATCTCATGATTGATATGGAGAAACTA
GTCATGGGCCAAAGGTCAAGATACTTCTCTGGGAAATGTTGCTGCTGATGCTGCTTTACAAAGTCATACAATGAGTGTTTGGTTTAAGAA
AGATTTTCATACTTAAAAGATTTTCATCTTGGAAATACATCAAGTGAAAATTAAATTCTTTTGGGAAACATTTTCCTTCTGATATATTAT
ACTTGTAATGGGCGACATGGCAAACAACTCAGTTGCTTACAGTGGTGTGAAAAACTCTTTGAAGGAAGCTAATCATGATGGAGACTTTGG
AATTACGCTCGCAGAGCTGCGGGCTCTCATGGAGCTCAGGTCCACAGATGCATTACGAAAAATACAGGAAAGCTATGGAGATGTCTATGG
AATTTGCACCAAATTGAAAACATCTCCCAATGAAGGTTTAAGTGGAAACCCTGCAGATTTAGAAAGAAGAGAAGCAGTGTTTGGAAAGAA
TTTTATACCTCCTAAAAAGCCAAAAACCTTTCTTCAATTAGTATGGGAAGCATTACAAGATGTCACTTTAATTATATTAGAAATTGCAGC
CATAGTATCATTGGGCCTTTCTTTTTATCAGCCTCCAGAAGGGGATAATGCACTTTGTGGAGAAGTTTCTGTTGGGGAGGAAGAAGGTGA
AGGTGAAACTGGTTGGATTGAAGGAGCTGCAATCCTCTTGTCTGTAGTGTGTGTGGTGTTAGTAACAGCTTTCAATGACTGGAGTAAGGA
AAAACAGTTTAGAGGTTTGCAGAGCCGAATTGAACAAGAACAGAAGTTCACTGTCATCAGGGGTGGTCAGGTCATTCAGATACCTGTAGC
TGACATTACTGTTGGAGATATTGCTCAAGTGAAATATGGTGATCTTCTTCCAGCTGACGGCATACTTATTCAAGGCAACGATCTTAAAAT
TGATGAAAGCTCATTGACTGGTGAATCAGATCATGTTAAAAAGTCTTTAGATAAGGATCCCTTACTTCTATCAGGTACTCATGTAATGGA
AGGCTCTGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATTATCTTTACCTTACTTGGAGCTGGAGGTGAAGAGGA
AGAGAAGAAAGATGAGAAGAAAAAGGAAAAGAAAAATAAGAAACAAGATGGAGCTATTGAGAATCGCAACAAAGCAAAAGCCCAGGATGG
TGCAGCCATGGAAATGCAGCCATTGAAGAGTGAAGAAGGTGGAGATGGTGATGAAAAAGATAAAAAGAAAGCAAATTTGCCAAAAAAGGA
AAAATCTGTTTTACAAGGGAAACTTACAAAACTGGCTGTTCAGATTGGCAAAGCAGGTCTGTTGATGTCTGCCATCACAGTTATCATTCT
AGTATTATATTTTGTCATTGACACCTTCTGGGTTCAGAAAAGACCATGGCTTGCTGAGTGCACACCAATTTATATACAATACTTTGTGAA
GTTCTTCATTATTGGAGTTACAGTTTTAGTGGTCGCAGTGCCAGAAGGTCTTCCACTTGCAGTCACGATCTCACTGGCTTATTCAGTCAA
AAAAATGATGAAAGATAATAACTTAGTAAGGCATCTGGATGCTTGTGAAACCATGGGAAATGCTACAGCTATTTGTTCAGATAAAACAGG
AACTTTGACAATGAACAGAATGACAGTCGTTCAAGCTTACATAAATGAAAAACATTATAAAAAGGTTCCTGAACCAGAAGCTATTCCACC
AAATATTTTGTCCTATCTTGTAACAGGAATTTCTGTGAATTGTGCTTATACATCAAAAATATTGCCACCAGAGAAAGAGGGTGGATTACC
TCGTCACGTTGGTAATAAAACTGAATGTGCCTTGTTGGGACTTCTTTTGGATTTAAAACGGGATTATCAGGATGTTAGAAATGAAATACC
AGAAGAAGCACTGTACAAAGTCTACACCTTCAATTCTGTTAGGAAGTCCATGAGTACTGTCCTGAAAAATTCAGATGGAAGTTATCGAAT
ATTCAGCAAGGGTGCATCTGAGATAATTCTGAAAAAGTGTTTCAAAATCTTGAGTGCTAATGGTGAGGCAAAAGTATTCAGACCAAGGGA
CCGTGATGATATTGTAAAAACTGTGATTGAACCGATGGCATCAGAAGGCTTGAGAACCATATGTCTTGCATTCAGAGATTTTCCAGCAGG
AGAACCAGAACCAGAGTGGGATAATGAAAATGATATTGTCACCGGCCTTACATGCATTGCTGTTGTGGGGATTGAAGATCCTGTGAGACC
TGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCG
ATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGC
TCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGA
GGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAA
ATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACA
GACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCAC
TGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGA
GGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGC
TCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACT
TTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACA
AATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAG
TAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAG
AGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGA
TAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAA
ACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAA
GTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACT
TACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGA
ATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTT
ACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGG
AATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCA
GCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGC
AGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAA
AAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCA
GGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGG
CACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAA
TAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCT
TGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAA
AAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGA
ACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAA
TCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGC
TGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAA
GCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAA
TATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGA
TGAAGAAGAAAGTCCTGTTAATTTCCCCATTTACTAAAGGTCACCTATAAACTTTGTTTCATTTAACTATTTATTAACTTTATAAGTTAA
ATATACTTGGAAATAAGCAGTTCTCCGAACTGTAGTATTTCCTTCTCACTACCTTGTACCTTTATACTTAGATTGGAATTCTTAATAAAT

>7848_7848_20_ATP2B1-CEP290_ATP2B1_chr12_90010579_ENST00000428670_CEP290_chr12_88478629_ENST00000552810_length(amino acids)=1689AA_BP=689
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFI
PPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGS
GRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD
DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEKLKEKESALRLAEQNILSRDKVINELRLRLP
ATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFK
QTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDL
KYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIV
DRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNK
QSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTL
QRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIE
SDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKV
VEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNL
EILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQ
IKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLK

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Fusion Gene PPI Analysis for ATP2B1-CEP290


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneCEP290chr12:90010579chr12:88478629ENST000003978382546696_896539.01540.0IQCB1
TgeneCEP290chr12:90010579chr12:88478629ENST00000547691829696_896539.01540.0IQCB1


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneCEP290chr12:90010579chr12:88478629ENST000005528103354696_8961479.02480.0IQCB1


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for ATP2B1-CEP290


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ATP2B1-CEP290


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource