Patient: Klatzke, Amelia, DoB: 1988-09-13 1 / 11

Retinal Dystrophy Panel Plus

REFERRING HEALTHCARE PROFESSIONAL
NAME HOSPITAL
Emma Sullivan CAN - Ontario - Mount Sinai Hospital

PATIENT
NAME DOB AGE GENDER ORDER ID
Klatzke, Amelia 1988-09-13 34 Female 224287

PRIMARY SAMPLE TYPE SAMPLE COLLECTION DATE CUSTOMER SAMPLE ID

Buccal Swab 2022-10-24 HN# 9411570634 NX, PA# L20221020 001

SUMMARY OF RESULTS
PRIMARY FINDINGS
Negative for explaining the patient’s phenotype.

ADDITIONAL FINDINGS
The patient is heterozygous for RP1 c.644G>A, p.(Ser215Asn), which is a variant of uncertain significance
(VUS).
The patient is heterozygous for PDE6C c.1265C>G, p.(Thr422Ser), which is a variant of uncertain
significance (VUS).
Please see APPENDIX 2: Additional Findings for further details

SEQUENCING PERFORMANCE METRICS

PANEL GENES EXONS / REGIONS BASES BASES > 20X MEDIAN PERCENT
COVERAGE > 20X
Retinal Dystrophy Panel 314 4998 989155 988668 270 99.95

PANEL GENES EXONS / REGIONS BASES BASES > 1000X MEDIAN PERCENT
COVERAGE > 1000X
Mitochondrial genome 37 - 15358 15358 17340 100

TARGET REGION AND GENE LIST

The Blueprint Genetics Retinal Dystrophy Panel (version 7, Oct 30, 2021) Plus Analysis includes sequence analysis and copy
number variation analysis of the following genes: ABCA4, ABCC6*, ABCD1*, ABHD12, ACO2, ADAM9, ADAMTS18, ADGRV1,
ADIPOR1*, AGBL5, AHI1, AIPL1, ALMS1*, AMACR, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARR3, ARSG, ATF6, ATOH7,
B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C21ORF2, C2ORF71, C5ORF42,
C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A#, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP164, CEP19,

Blueprint Genetics Oy, Keilaranta 16 A-B, 02150 Espoo, Finland VAT number: FI22307900, CLIA ID 1 / 11
Number: 99D2092375, CAP Number: 9257331
Patient: Klatzke, Amelia, DoB: 1988-09-13 2 / 11

CEP250, CEP290*, CEP41, CEP78, CEP83, CERKL, CHM#, CIB2, CISD2*, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1#, CNGA3, CNGB1,
CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, COQ2, CPE, CRB1, CRX, CSPP1, CTC1,
CTNNA1, CTNNB1, CTSD, CWC27, CYP4V2, DFNB31, DHDDS, DHX38, DNAJC5, DRAM2, DTHD1, DYNC2H1, EFEMP1, ELOVL4,
EMC1, ESPN*, EXOSC2, EYS*, FAM161A, FDXR, FLVCR1, FRMD7, FZD4, GNAT1, GNAT2, GNB3, GNPTG, GPR143, GPR179, GRK1,
GRM6, GUCA1A, GUCY2D, HARS, HGSNAT, HK1#, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT81#, IMPDH1, IMPG1, IMPG2,
INPP5E, INVS, IQCB1, ISPD, JAG1, KCNJ13, KCNV2, KIAA0556, KIAA0586#, KIAA0753, KIAA1549, KIF11, KIF7, KIZ, KLHL7, LAMA1,
LCA5, LRAT, LRIT3, LRP2, LRP5*, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MT-ATP6, MT-ATP8, MT-CO1,
MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC,
MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-
TT, MT-TV, MT-TW, MT-TY, MTTP, MVK, MYO7A, NAGLU, NDP, NEK2#, NMNAT1#, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX,
OAT, OCA2, OFD1, OPA1, OPA3, OPN1SW, OTX2, P3H2, PANK2, PAX2, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G,
# #
PDE6H, PDSS1 , PDSS2, PDZD7 , PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6,
PEX7, PHYH, PISD, PITPNM3, PLA2G5, PLK4, PNPLA6, POC1B, POMGNT1, PPT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4,
PRPF6, PRPF8, PRPH2, PRPS1*, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP,
RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L#, RS1, RTN4IP1, SAG, SAMD11, SCAPER, SCLT1#,
SDCCAG8, SEMA4A, SGSH, SLC24A1, SLC25A46, SLC45A2, SLC7A14, SNRNP200, SPATA7, SPP2, SRD5A3*, TCTN1#, TCTN2,
TCTN3, TEAD1, TIMM8A*, TIMP3, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TPP1,
TRAF3IP1, TREX1, TRIM32, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TYR*,
TYRP1, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WFS1, YME1L1*, ZNF408, ZNF423 and ZNF513. The following
exons are not included in the panel as they are not covered with sufficient high quality sequence reads: CC2D2A (NM_020785:7),
CHM (NM_001145414:5), CNGA1 (NM_001142564:2), HK1 (NM_001322365:5), IFT81 (NM_031473:12), KIAA0586
(NM_001244189:6, 33), NEK2 (NM_001204182:8), NMNAT1 (NM_001297779:5), PDSS1 (NM_014317:2), PDZD7 (NM_024895:10),
RPGRIP1L (NM_015272:23), SCLT1 (NM_001300898:6) and TCTN1 (NM_001173976:2;NM_024549:6).
*Some, or all, of the gene is duplicated in the genome. Read more: https://blueprintgenetics.com/pseudogene/
#
The gene has suboptimal coverage when >90% of the gene’s target nucleotides are not covered at >20x with a mapping
quality score of MQ>20 reads.
The sensitivity to detect variants may be limited in genes marked with an asterisk (*) or number sign (#).

STATEMENT

CLINICAL HISTORY

Patient is a 34-year-old female with clinical suspicion of retinitis pigmentosa. She was diagnosed at age 24. Patient's clinical
features include progressive vision loss (legally blind), significantly reduced peripheral vision, clumsiness, progressive white
matter changes on MRI, numbness, and tingling. There is no reported family history of similar disease. Previous genetic testing
performed by another laboratory in 2015: inconclusive.

CLINICAL REPORT

Sequence and Del/Dup (CNV) analysis using the Blueprint Genetics (BpG) Retinal Dystrophy Panel did not detect any known
disease-causing or rare variants that could explain the patient's phenotype as described to the laboratory at the time of
interpretation.
The analysis detected variants that were considered additional findings. Please see APPENDIX 2 for these results.

Blueprint Genetics Oy, Keilaranta 16 A-B, 02150 Espoo, Finland VAT number: FI22307900, CLIA ID 2 / 11
Number: 99D2092375, CAP Number: 9257331
Patient: Klatzke, Amelia, DoB: 1988-09-13 3 / 11

STEP DATE

Order date Oct 20, 2022

Sample received Oct 31, 2022

Sample in analysis Nov 17, 2022

Reported Dec 21, 2022

On Dec 21, 2022 the statement has been prepared by our geneticists and physicians, who have together evaluated the
sequencing results:

Sanna Vattulainen-Collanus, Ph.D. Juha Koskenvuo, MD, Ph.D.

Geneticist Lab Director, Chief Medical Officer

Blueprint Genetics Oy, Keilaranta 16 A-B, 02150 Espoo, Finland VAT number: FI22307900, CLIA ID 3 / 11
Number: 99D2092375, CAP Number: 9257331
Patient: Klatzke, Amelia, DoB: 1988-09-13 4 / 11

APPENDIX 2: ADDITIONAL FINDINGS

This table includes variants that:

1. are not thought to be the likely cause for, or sufficient to cause the patient’s phenotype
a. a single variant (pathogenic, likely pathogenic or variant of uncertain significance) in a gene that causes an
autosomal recessive or X-linked recessive disorder
2. are findings potentially relevant to the patient’s medical care
a. risk variants identified in genes included on the panel
b. potentially disease-causing variants for an autosomal dominant disorder not related to patient’s current phenotype
3. indicate carrier status for pathogenic or likely pathogenic variants in a gene that causes an autosomal recessive or X-
linked disorder not suspected in the patient

ADDITIONAL FINDINGS: SEQUENCE ALTERATIONS

GENE TRANSCRIPT NOMENCLATURE GENOTYPE CONSEQUENCE INHERITANCE CLASSIFICATION

RP1 NM_006269.2 c.644G>A, p.(Ser215Asn) HET missense_variant AD,AR Variant of uncertain significance

ASSEMBLY POS REF/ALT

ID
GRCh37/hg19 8:55534705 G/A

gnomAD AC/AN POLYPHEN SIFT MUTTASTER PHENOTYPE

7/251442 benign tolerated polymorphism Retinitis pigmentosa

GENE TRANSCRIPT NOMENCLATURE GENOTYPE CONSEQUENCE INHERITANCE CLASSIFICATION

PDE6C NM_006204.4 c.1265C>G, p.(Thr422Ser) HET missense_variant AR Variant of uncertain significance

ASSEMBLY POS REF/ALT

ID
GRCh37/hg19 10:95394660 C/G

gnomAD AC/AN POLYPHEN SIFT MUTTASTER PHENOTYPE

0/0 benign deleterious disease causing Cone dystrophy

NOTES REGARDING ADDITIONAL FINDINGS

The patient is heterozygous for a variant of uncertain significance RP1 c.644G>A, p.(Ser215Asn). The variant is predicted to be
tolerated by all in silico tools utilized. The RP1 c.644G>A, p.(Ser215Asn) variant has been submitted to ClinVar by another clinical
testing laboratory (variation ID 1045918). Pathogenic variants in RP1 have been associated with autosomal dominant and
autosomal recessive retinitis pigmentosa (RP; OMIM #180100). Recently, bi-allelic RP1 variants have also been described in
patients with autosomal recessive macular and cone-rod dystrophy (​ PMID: 30029497, 30913292). The vast majority of
pathogenic variants in RP1 are truncating variants clustered in the last exon of RP1, exon 4, which encodes amino acid residues
263-2156. It has been suggested that adRP RP1 variants are clustered in a relatively small region in exon 4, between amino acid
residues 500 and 1053, and result in the production of a truncated protein with a presumed dominant-negative activity
(PMID: 23077400, 22927954, 30913292). In addition, the frequency of this variant in the gnomAD population database makes it
unlikely to cause dominantly inherited disease. No second potentially disease-causing variant was detected in this
gene. Therefore, this heterozygous variant is not expected to be related to the patient’s reported phenotype.
The patient is heterozygous for a variant of uncertain significance PDE6C c.1265C>G, p.(Thr422Ser). Disease caused by variants
in this gene is inherited in an autosomal recessive manner. No second potentially disease-causing variant was detected in this
gene. Therefore, this heterozygous variant is not expected to explain the patient’s reported phenotype.

Blueprint Genetics Oy, Keilaranta 16 A-B, 02150 Espoo, Finland VAT number: FI22307900, CLIA ID 4 / 11
Number: 99D2092375, CAP Number: 9257331
Patient: Klatzke, Amelia, DoB: 1988-09-13 5 / 11

Readability of the coverage plot may be hindered by faxing. A high quality coverage plot can be found with the full report on
nucleus.blueprintgenetics.com.

Blueprint Genetics Oy, Keilaranta 16 A-B, 02150 Espoo, Finland VAT number: FI22307900, CLIA ID 5 / 11
Number: 99D2092375, CAP Number: 9257331
Patient: Klatzke, Amelia, DoB: 1988-09-13 6 / 11

Readability of the coverage plot may be hindered by faxing. A high quality coverage plot can be found with the full report on
nucleus.blueprintgenetics.com.

Blueprint Genetics Oy, Keilaranta 16 A-B, 02150 Espoo, Finland VAT number: FI22307900, CLIA ID 6 / 11
Number: 99D2092375, CAP Number: 9257331
Patient: Klatzke, Amelia, DoB: 1988-09-13 7 / 11

Blueprint Genetics Oy, Keilaranta 16 A-B, 02150 Espoo, Finland VAT number: FI22307900, CLIA ID 7 / 11
Number: 99D2092375, CAP Number: 9257331
Patient: Klatzke, Amelia, DoB: 1988-09-13 8 / 11

APPENDIX 5: SUMMARY OF THE TEST

PLUS ANALYSIS

Laboratory process: When required, the total genomic DNA was extracted from the biological sample using bead-based
method. Quantity of DNA was assessed using fluorometric method. After assessment of DNA quantity, qualified genomic DNA
sample was randomly fragmented using non-contact, isothermal sonochemistry processing. Sequencing library was prepared by
ligating sequencing adapters to both ends of DNA fragments. Sequencing libraries were size-selected with bead-based method to
ensure optimal template size and amplified by polymerase chain reaction (PCR). Regions of interest (exons and intronic targets)
were targeted using hybridization-based target capture method. The quality of the completed sequencing library was controlled
by ensuring the correct template size and quantity and to eliminate the presence of leftover primers and adapter-adapter
dimers. Ready sequencing libraries that passed the quality control were sequenced using the Illumina's sequencing-by-synthesis
method using paired-end sequencing (150 by 150 bases). Primary data analysis converting images into base calls and associated
quality scores was carried out by the sequencing instrument using Illumina's proprietary software, generating CBCL files as the
final output.
Bioinformatics and quality control: Base called raw sequencing data was transformed into FASTQ format using Illumina's
software (bcl2fastq). Sequence reads of each sample were mapped to the human reference genome (GRCh37/hg19). Burrows-
Wheeler Aligner (BWA-MEM) software was used for read alignment. Duplicate read marking, local realignment around indels,
base quality score recalibration and variant calling were performed using GATK algorithms (Sentieon) for nDNA. Variant data for
was annotated using a collection of tools (VcfAnno and VEP) with a variety of public variant databases including but not limited to
gnomAD, ClinVar and HGMD. The median sequencing depth and coverage across the target regions for the tested sample were
calculated based on MQ0 aligned reads. The sequencing run included in-process reference sample(s) for quality control, which
passed our thresholds for sensitivity and specificity. The patient's sample was subjected to thorough quality control measures
including assessments for contamination and sample mix-up. Copy number variations (CNVs), defined as single exon or larger
deletions or duplications (Del/Dups), were detected from the sequence analysis data using a proprietary bioinformatics pipeline.
The difference between observed and expected sequencing depth at the targeted genomic regions was calculated and regions
were divided into segments with variable DNA copy number. The expected sequencing depth was obtained by using other
samples processed in the same sequence analysis as a guiding reference. The sequence data was adjusted to account for the
effects of varying guanine and cytosine content.
Interpretation: The clinical interpretation team assessed the pathogenicity of the identified variants by evaluating the
information in the patient requisition, reviewing the relevant scientific literature and manually inspecting the sequencing data if
needed. All available evidence of the identified variants was compared to classification criteria. Reporting was carried out using
HGNC-approved gene nomenclature and mutation nomenclature following the HGVS guidelines. Likely benign and benign
variants were not reported.
Variant classification: Our variant classification follows the Blueprint Genetics Variant Classification Schemes modified from
the ACMG guideline 2015. Minor modifications were made to increase reproducibility of the variant classification and improve the
clinical validity of the report. The classification and interpretation of the variant(s) identified reflect the current state of Blueprint
Genetics’ understanding at the time of this report. Variant classification and interpretation are subject to professional judgment,
and may change for a variety of reasons, including but not limited to, updates in classification guidelines and availability of
additional scientific and clinical information. This test result should be used in conjunction with the health care provider's clinical
evaluation. Inquiries regarding potential changes to the classification of the variant is strongly recommended prior to making any
future clinical decisions. For questions regarding variant classification updates, please contact us at
[email protected]
Databases: The pathogenicity potential of the identified variants were assessed by considering the predicted consequence of
the change, the degree of evolutionary conservation as well as the number of reference population databases and mutation
databases such as, but not limited to, the gnomAD, ClinVar, HGMD Professional and Alamut Visual. In addition, the clinical
relevance of any identified CNVs was evaluated by reviewing the relevant literature and databases such as Database of Genomic
Variants and DECIPHER. For interpretation of mtDNA variants specific databases including e.g. Mitomap, HmtVar and 1000G were
used.

Blueprint Genetics Oy, Keilaranta 16 A-B, 02150 Espoo, Finland VAT number: FI22307900, CLIA ID 8 / 11
Number: 99D2092375, CAP Number: 9257331
Patient: Klatzke, Amelia, DoB: 1988-09-13 9 / 11

Confirmation of sequence alterations: Sequence variants classified as pathogenic, likely pathogenic and variants of
uncertain significance (VUS) were confirmed using bi-directional Sanger sequencing when they did not meet our stringent NGS
quality metrics for a true positive call. In addition, prenatal case with diagnostic findings were confirmed.
Confirmation of copy number variants: CNVs (Deletions/Duplications) were confirmed using a digital PCR assay if they
covered less than 10 exons (heterozygous), less than 3 exons (homo/hemizygous) or were not confirmed at least three times
previously at our laboratory. Furthermore, CNVs of any size were not confirmed when the breakpoints of the call could be
determined.
Analytic validation: The detection performance of this panel is expected to be in the same range as our high-quality, clinical
grade NGS sequencing assay used to generate the panel data (nuclear DNA: sensitivity for SNVs 99.89%, indels 1-50 bps 99.2%,
one-exon deletion 100% and five exons CNV 98.7%, and specificity >99.9% for most variant types). It does not detect very low
level mosaicism as a variant with minor allele fraction of 14.6% can be detected in 90% of the cases. Detection performance for
mtDNA variants (analytic and clinical validation): sensitivity for SNVs and INDELs 100.0% (10-100% heteroplasmy level), 94.7%
(5-10% heteroplasmy level), 87.3% (<5% heteroplasmy level) and for gross deletions 100.0%. Specificity is >99.9% for all.
Test restrictions: A normal result does not rule out the diagnosis of a genetic disorder since some DNA abnormalities may be
undetectable by the applied technology. Test results should always be interpreted in the context of clinical findings, family
history, and other relevant data. Inaccurate, or incomplete information may lead to misinterpretation of the results.
Technical limitations: This test does not detect the following: complex inversions, gene conversions, balanced translocations,
repeat expansion disorders unless specifically mentioned, non-coding variants deeper than ±20 base pairs from exon-intron
boundary unless otherwise indicated (please see the list of non-coding variants covered by the test). Additionally, this test may
not reliably detect the following: low level mosaicism, stretches of mononucleotide repeats, indels larger than 50bp, single exon
deletions or duplications, and variants within pseudogene regions/duplicated segments. The sensitivity of this test may be
reduced if DNA is extracted by a laboratory other than Blueprint Genetics. Laboratory error is also possible. Please see the
Analytic validation above.
Regulation and accreditations: This test was developed and its performance characteristics determined by Blueprint Genetics
(see Analytic validation). It has not been cleared or approved by the US Food and Drug Administration. This analysis has been
performed in a CLIA-certified laboratory (#99D2092375), accredited by the College of American Pathologists (CAP #9257331)
and by FINAS Finnish Accreditation Service, (laboratory no. T292), accreditation requirement SFS-EN ISO 15189:2013. All the
tests are under the scope of the ISO 15189 accreditation.

The sample was analyzed using CE marked Blueprint Genetics CES Platform and/or Blueprint Genetics WES Platform in vitro
diagnostic medical device manufactured by Blueprint Genetics Oy. For more information please see Accreditations and
Certifications.

PERFORMING SITE:

BLUEPRINT GENETICS OY, KEILARANTA 16 A-B, 02150 ESPOO, FINLAND Laboratory Director: JUHA KOSKENVUO, MD, PhD, CLIA:
99D2092375
DNA extraction and QC
Next-generation sequencing
Bioinformatic analysis
Confirmation of sequence alterations
Confirmation of copy number variants
Interpretation

NON-CODING VARIANTS COVERED BY THE PANEL:

NM_022787.3(NMNAT1):c.-70A>T, NM_022787.3(NMNAT1):c.-69C>T, NM_022787.3(NMNAT1):c.-57+7T>G,

NM_024887.3(DHDDS):c.441-24A>G, NM_000310.3(PPT1):c.*526_*529delATCA, NM_000310.3(PPT1):c.125-15T>G,
NM_000329.2(RPE65):c.246-11A>G, NM_000350.2(ABCA4):c.6730-19G>A, NM_000350.2(ABCA4):c.6148-471C>T,
NM_000350.2(ABCA4):c.5197–557G>T, NM_000350.2(ABCA4):c.5196+1137G>A, NM_000350.2(ABCA4):c.5196+1137G>T,

Blueprint Genetics Oy, Keilaranta 16 A-B, 02150 Espoo, Finland VAT number: FI22307900, CLIA ID 9 / 11
Number: 99D2092375, CAP Number: 9257331
Patient: Klatzke, Amelia, DoB: 1988-09-13 10 / 11

NM_000350.2(ABCA4):c.5196+1056A>G, NM_000350.2(ABCA4):c.4539+2065C>G, NM_000350.2(ABCA4):c.4539+2064C>T,

NM_000350.2(ABCA4):c.4539+2028C>T, NM_000350.2(ABCA4):c.4539+2001G>A, NM_000350.2(ABCA4):c.4539+1928C>T,
NM_000350.2(ABCA4):c.4539+1729G>T, NM_000350.2(ABCA4):c.4539 +1106C>T, NM_000350.2(ABCA4):c.4539+1100A>G,
NM_000350.2(ABCA4):c.4253+43G>A, NM_000350.2(ABCA4):c.3191–11T>A, NM_000350.2(ABCA4):c.3051-16T>A,
NM_000350.2(ABCA4):c.3050+370C>T, NM_000350.2(ABCA4):c.2919-383C>T, NM_000350.2(ABCA4):c.2160+584A>G,
NM_000350.2(ABCA4):c.1938-619A>G, NM_000350.2(ABCA4):c.1937+435C>G, NM_000350.2(ABCA4):c.1937+13T>G,
NM_000350.2(ABCA4):c.859-506G>C, NM_000350.2(ABCA4):c.859–540C>G, NM_000350.2(ABCA4):c.769–784C>T,
NM_000350.2(ABCA4):c.768+3223C>T, NM_000350.2(ABCA4):c.570+1798A>G, NM_000350.2(ABCA4):c.302+68C>T,
NM_000350.2(ABCA4):c.161–23T>G, NM_000350.2(ABCA4):c.67-16T>A, NM_080629.2(COL11A1):c.3744+437T>G,
NM_080629.2(COL11A1):c.1027-24A>G, NM_080629.2(COL11A1):c.781-450T>G, NM_005272.3(GNAT2):c.461+24G>A,
NM_206933.2(USH2A):c.14583-20C>G, NM_206933.2(USH2A):c.9959-4159A>G, NM_206933.2(USH2A):c.8845+628C>T,
NM_206933.2(USH2A):c.7595-2144A>G, NM_206933.2(USH2A):c.5573-834A>G, NM_206933.2(USH2A):c.486-14G>A,
NM_206933.2(USH2A):c.-259G>T, NM_001142763.1(PCDH15):c.-29+1G>C, NM_033500.2(HK1):c.-390-3838G>C,
NM_033500.2(HK1):c.-390-3818G>C, NM_033500.2(HK1):c.27+14901A>G, NM_006204.3(PDE6C):c.481-12T>A,
NM_000391.3(TPP1):c.887-18A>G, NM_001139443.1(BEST1):c.-29+1G>T, NM_001139443.1(BEST1):c.-29+5G>A,
NM_024649.4(BBS1):c.951+58C>T, NM_000260.3(MYO7A):c.-48A>G, NM_000260.3(MYO7A):c.3109-21G>A,
NM_000260.3(MYO7A):c.5327-14T>G, NM_000260.3(MYO7A):c.5327-11A>G,
NM_000260.3(MYO7A):c.5857-27_5857-26insTTGAG, NM_000372.4(TYR):c.1037-18T>G,
NM_001080463.1(DYNC2H1):c.2819-14A>G, NM_001080463.1(DYNC2H1):c.6478-16G>A,
NM_001844.4(COL2A1):c.1527+135G>A, NM_002905.3(RDH5):c.-33+2dupT, NM_025114.3(CEP290):c.6012-12T>A,
NM_025114.3(CEP290):c.2991+1655A>G, NM_025114.3(CEP290):c.1910-11T>G,
NM_025114.3(CEP290):c.103-18_103-13delGCTTTT, NM_000431.2(MVK):c.769-7dupT, NM_020366.3(RPGRIP1):c.1468-263G>C,
NM_020366.3(RPGRIP1):c.1611+27G>A, NM_020366.3(RPGRIP1):c.2367+23delG, NM_020366.3(RPGRIP1):c.2367+23delG,
NM_020366.3(RPGRIP1):c.2711-13G>T, NM_000275.2(OCA2):c.1117-11T>A, NM_000275.2(OCA2):c.1117-17T>C,
NM_000275.2(OCA2):c.1045-15T>G, NM_000275.2(OCA2):c.574-19A>G, NM_017882.2(CLN6):c.297+113G>C,
NM_033028.4(BBS4):c.77-216delA, NM_032520.4(GNPTG):c.610-16_609+28del, NM_014714.3(IFT140):c.2577+25G>A,
NM_001171.5(ABCC6):c.4403+11C>G, NM_001171.5(ABCC6):c.3506+15G>A, NM_001171.5(ABCC6):c.1780-29T>A,
NM_001171.5(ABCC6):c.1432-22C>A, NM_000086.2(CLN3):c.1056+34C>A, NM_000086.2(CLN3):c.461-13G>C,
NM_001077416.2(TMEM231):c.824-11T>C, NM_000180.3(GUCY2D):c.-9-137T>C, NM_000199.3(SGSH):c.249+27_249+28delGG,
NM_015629.3(PRPF31):c.1073+20_1073+36delCGGTAGGCATGGGGGTC, NM_015629.3(PRPF31):c.1374+654C>G,
NM_001298.2(CNGA3):c.-37-1G>C, NM_152384.2(BBS5):c.619-27T>G, NM_153638.2(PANK2):c.*40G>C,
NM_000214.2(JAG1):c.1349-12T>G, NM_001271441.1(C21ORF2):c.1000-23A>T, NM_001195794.1(CLRN1):c.254-649T>G,
NM_130837.2(OPA1):c.449-34dupA, NM_130837.2(OPA1):c.2179-40G>C, NM_006005.3(WFS1):c.-43G>T,
NM_006017.2(PROM1):c.2077-521A>G, NM_000253.2(MTTP):c.619-5_619-2delTTTA, NM_000253.2(MTTP):c.1237-28A>G,
NM_004744.3(LRAT):c.541-15T>G, chr5:g.33985176-33985176, chr5:g.33985764-33985764,
NM_000287.3(PEX6):c.2301-15C>G, NM_000287.3(PEX6):c.2300+28G>A, NM_001142800.1(EYS):c.-448+5G>A,
chr6:g.100040906-100040906, chr6:g.100040987-100040987, chr6:g.100041040-100041040,
NM_021620.3(PRDM13):c.-8128A>C, NM_021620.3(PRDM13):c.-8107T>C, NM_000288.3(PEX7):c.-45C>T,
NM_152419.2(HGSNAT):c.821-28_821-10delTTGCTTATGCTTTGTACTT, chr9:g.116037909-116037909,
NM_000273.2(GPR143):c.885+748G>A, NM_000273.2(GPR143):c.659-131T>G, NM_003611.2(OFD1):c.935+706A>G,
NM_003611.2(OFD1):c.1130-22_1130-19delAATT, NM_003611.2(OFD1):c.1130-20_1130-16delTTGGT,
chrX:g.38128234-38128234, NM_001034853.1(RPGR):c.1059+363G>A, NM_000266.3(NDP):c.-207-1G>A,
NM_000266.3(NDP):c.-208+5G>A, NM_000266.3(NDP):c.-208+2T>G, NM_000266.3(NDP):c.-208+1G>A,
NM_000266.3(NDP):c.-343A>G, NM_000266.3(NDP):c.-391_-380delCTCTCTCTCCCTinsGTCTCTC,
NM_000266.3(NDP):c.-396_-383delTCCCTCTCTCTCTC, NM_000390.2(CHM):c.315-1536A>G, NM_000390.2(CHM):c.315-4587T>A,
chrX:g.85302626-85302626, chrX:g.85302634-85302634, chrX:g.85302634-85302634, chrX:g.85302644-85302644,
NM_004085.3(TIMM8A):c.133-23A>C, NM_194277.2(FRMD7):c.285-118C>T

GLOSSARY OF USED ABBREVIATIONS:

AD = autosomal dominant
Blueprint Genetics Oy, Keilaranta 16 A-B, 02150 Espoo, Finland VAT number: FI22307900, CLIA ID 10 / 11
Number: 99D2092375, CAP Number: 9257331
Patient: Klatzke, Amelia, DoB: 1988-09-13 11 / 11

AF = allele fraction (proportion of reads with mutated DNA / all reads)

AR = autosomal recessive
CNV = Copy Number Variation e.g. one exon or multiexon deletion or duplication
gnomAD = genome Aggregation Database (reference population database; >138,600 individuals)
gnomAD AC/AN = allele count/allele number in the genome Aggregation Database (gnomAD)
HEM = hemizygous
HET = heterozygous
HOM = homozygous
ID = rsID in dbSNP
MT = Mitochondria
MutationTaster = in silico prediction tools used to evaluate the significance of identified amino acid changes.
Nomenclature = HGVS nomenclature for a variant in the nucleotide and the predicted effect of a variant in the protein level
OMIM = Online Mendelian Inheritance in Man®
PolyPhen = in silico prediction tool used to evaluate the significance of amino acid changes.
POS = genomic position of the variant in the format of chromosome:position
SIFT = in silico prediction tool used to evaluate the significance of amino acid changes.

Blueprint Genetics Oy, Keilaranta 16 A-B, 02150 Espoo, Finland VAT number: FI22307900, CLIA ID 11 / 11
Number: 99D2092375, CAP Number: 9257331