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Table S1: Captured genes and their associated phenotypes
Genes
Disease caused / Reason for inclusion
ABCA4
Recessive STGD; recessive macular dystrophy; recessive retinitis pigmentosa;
Recessive fundus flavimaculatus; recessive cone-rod dystrophy
ABCC6
Recessive pseudoxanthoma elasticum; dominant pseudoxanthoma elasticum
ABHD12
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ADAM9
Recessive cone-rod dystrophy
AGS1
Aicardi-Goutieres syndrome 1, dominant and recessive
AHI1
Recessive Joubert syndrome, Åland island eye disease
AIPL1
Recessive Leber congenital amaurosis; dominant cone-rod dystrophy
ALMS1
Recessive Alstrom syndrome
ARL6
Recessive Bardet-Biedl syndrome
ARMS2
Age-related macular degeneration, complex etiology
ASPM
Microcephaly 5, primary, autosomal recessive
ATXN7
Dominant spinocerebellar ataxia w/ macular dystrophy or retinal degeneration
BAI1
Angiogenesis relevant
BBS1
Recessive Bardet-Biedl syndrome
BBS10
Recessive Bardet-Biedl syndrome
BBS12
Recessive Bardet-Biedl syndrome
BBS2
Recessive Bardet-Biedl syndrome
BBS4
Recessive Bardet-Biedl syndrome
BBS5
Recessive Bardet-Biedl syndrome
BBS7
Recessive Bardet-Biedl syndrome
BBS9
Recessive Bardet Biedl syndrome;
BEST1
Dominant macular dystrophy, Best type; dominant vitreoretinochoroidopathy;
recessive bestrophinopathy; recessive retinitis pigmentosa; dominant retinitis
pigmentosa
C1QTNF5
Dominant macular dystrophy, late onset; dominant macular dystrophy with lens
zonules
C2
Age-related macular degeneration, complex etiology
C2ORF71
Recessive retinitis pigmentosa
C3
Age-related macular degeneration, complex etiology
C8ORF37
Recessive cone-rod dystrophy and retinitis pigmentosa with early macular
involvement
CA4
Dominant retinitis pigmentosa
CABP4
Recessive congenital stationary night blindness; recessive congenital cone-rod
synaptic disease; recessive Leber congenital amaurosis
CACNA1F
X-linked congenital stationary night blindness, incomplete; AIED-like disease;
severe congenital stationary night blindness; X-linked progressive cone-rod
dystrophy
CACNA2D4
Recessive cone dystrophy
CACNB2
Brugada syndrome
CC2D2A
Recessive retinitis pigmentosa and mental retardation; recessive Joubert
syndrome
CCDC40
Ciliary dyskinesia, primary, 15
CCDC66
Retinal degeneration and dysfunction
CDH23
Recessive Usher syndrome, type 1d; recessive deafness without retinitis
pigmentosa; digenic Usher syndrome with PCDH15
CDH3
Recessive macular dystrophy, juvenile with hypotrichosis
CDHR1
Recessive cone-rod dystrophy
CEP290
Recessive Senior-Loken syndrome; recessive Joubert syndrome; recessive Leber
congenital amaurosis; recessive Meckel syndrome
CERKL
Recessive retinitis pigmentosa; recessive cone-rod dystrophy with inner
retinopathy
CFB
Age-related macular degeneration, complex etiology
CFH
Age-related macular degeneration, complex etiology; recessive drusen, earlyonset
CHM
Recessive choroideremia
CISD2
Wolfram syndrome 2
CLN3
Recessive Batten disease (ceroid-lipofuscinosis, neuronal 3), juvenile
CLRN1
Recessive Usher syndrome, type 3; recessive retinitis pigmentosa
CNGA1
Recessive retinitis pigmentosa
CNGA3
Recessive achromatopsia
CNGB1
Recessive retinitis pigmentosa
CNGB3
Recessive achromatopsia Pingelapese; recessive, progressive cone dystrophy
CNNM4
Recessive Jalili syndrome
COL11A1
Dominant Stickler syndrome, type II; dominant Marshall syndrome
COL14A1
Punctate palmoplantar keratoderma
COL2A1
Dominant Stickler syndrome, type I; dominant Wagner syndrome; dominant
epiphyseal dysplasia
COL9A1
Recessive Stickler syndrome; dominant multiple epiphyseal dysplasia (MED)
CRB1
Recessive retinitis pigmentosa with para-arteriolar preservation of the RPE
(PPRPE); recessive retinitis pigmentosa; recessive Leber congenital amaurosis;
dominant pigmented paravenous horioretinal atrophy
CRX
Dominant cone-rod dystrophy; recessive, dominant and de novo Leber
congenital amaurosis; dominant retinitis pigmentosa
CYP4V2
Recessive Bietti crystalline corneoretinal dystrophy
DFNB31
Recessive Usher syndrome, type 2; recessive deafness without retinitis
pigmentosa
DHDDS
Recessive retinitis pigmentosa
DMD
Oregon eye disease (probably)
EFEMP1
Dominant radial macular drusen; dominant Doyne honeycomb retinal
degeneration (Malattia Leventinese)
ELOVL4
Dominant macular dystrophy, Stargardt-like
ERCC6
Age-related macular degeneration, complex etiology; Cockayne syndrome,
recessive
EYS
Recessive retinitis pigmentosa
FAM161A
Recessive retinitis pigmentosa
FANCA
Fanconi anemia, complementation group A
FBLN5
Familial macular dystrophy, age-related
FLVCR1
Recessive retinitis pigmentosa with posterior column ataxia (PCARP)
FSCN2
Dominant retinitis pigmentosa; dominant macular dystrophy
FZD4
Dominant familial exudative vitreoretinopathy
GNAT1
Dominant congenital stationary night blindness, Nougaret type; recessive
congenital stationary night blindness
GNAT2
Recessive achromatopsia
GNPTG
Recessive retinitis pigmentosa and skeletal abnormalities; recessive
mucolipidosis III gamma
GPR179
Autosomal-recessive complete congenital stationary night blindness
GPR98
Recessive Usher syndrome, type 2; dominant/recessive febrile convulsions
GRK1
Recessive congenital stationary night blindness, Oguchi type
GRM6
Recessive congenital stationary night blindness
GUCA1A
Dominant cone dystrophy; dominant cone-rod dystrophy
GUCA1B
Dominant retinitis pigmentosa; dominant macular dystrophy
GUCY2D
Recessive Leber congenital amaurosis; dominant cone-rod dystrophy
HMCN1
Dominant macular dystrophy, age-related
HTRA1
Age-related macular degeneration, complex etiology
IDH3B
Recessive retinitis pigmentosa
IFT140
Mainzer-Saldino syndrome
IMPDH1
Dominant retinitis pigmentosa; dominant Leber congenital amaurosis
IMPG2
Recessive retinitis pigmentosa
INPP5E
Recessive Joubert syndrome; recessive MORM syndrome
INVS
Recessive Senior-Loken syndrome; recessive nephronophthisis
IQCB1
Recessive Senior-Loken syndrome; recessive Leber congenital amaurosis
JAG1
Dominant Alagille syndrome
KCNJ13
Dominant vitreoretinal degeneration, snowflake; recessive Leber congenital
amaurosis
KCNV2
Recessive cone dystrophy with supernormal rod electroretinogram
KIF11
Dominant microcephaly, lymphedema and chorioretinopathy
KLHL7
Dominant retinitis pigmentosa
LCA5
Recessive Leber congenital amaurosis
LRAT
Recessive retinitis pigmentosa, severe early-onset; recessive Leber congenital
amaurosis
LRP5
Dominant familial exudative vitreoretinopathy; dominant high bone mass trait;
recessive osteoporosis-pseudoglioma syndrome; recessive familial exudative
vitreoretinopathy
MAK
Recessive retinits pigmentosa
MERTK
Recessive retinitis pigmentosa; recessive rod-cone dystrophy, early onset
MFN2
Dominant optic atrophy with neuropathy and myopathy; dominant CharcotMarie-Tooth disease
MFRP
Recessive microphthalmos and retinal disease syndrome; recessive
nanophthalmos
MKKS
Recessive Bardet-Biedl syndrome
MKS1
Dominant cone-rod dystrophy
MPV17
Retinal disease
MTTP
Recessive abetalipoproteinemia
MYO7A
Recessive Usher syndrome, type 1b; recessive congenital deafness without
Retinitis pigmentosa; recessive atypical Usher syndrome (USH3-like)
NDP
Norrie disease; familial exudative vitreoretinopathy; Coats disease
NMNAT1
Recessive Leber congenital amaurosis
NPHP1
Recessive Senior-Loken syndrome; recessive nephronophthisis, juvenile;
Recessive Joubert syndrome
NPHP3
Recessive Senior-Loken syndrome; recessive nephronophthisis, adolescent
NPHP4
Recessive Senior-Loken syndrome; recessive nephronophthisis, juvenile
NR2E3
Recessive enhanced S-cone syndrome (ESC); recessive retinitis pigmentosa in
Portuguese Crypto Jews; Goldmann-Favre syndrome; dominant retinitis
pigmentosa; combined dominant and recessive retinopathy
NRL
Dominant retinitis pigmentosa; recessive retinitis pigmentosa
NYX
X-linked congenital stationary night blindness
OAT
Recessive gyrate atrophy
OFD1
Jobert syndrome; orofaciodigital syndrome 1, Simpson-Golabi-Behmel
syndrome 2
OPA1
Dominant optic atrophy, Kjer type; dominant optic atrophy with sensorineural
hearing loss
OPA3
Recessive optic atrophy with ataxia and 3-methylglutaconic aciduria
OPN1LW
Deuteranopia and rare macular dystrophy in blue cone monochromacy with loss
of locus control element
OPN1MW
Protanopia and rare macular dystrophy in blue cone monochromacy with loss of
locus control element
OPN1MW2
Protanopia and rare macular dystrophy in blue cone monochromacy with loss of
locus control element
OPN1SW
Dominant tritanopia
OTX2
Dominant Leber congenital amaurosis and pituitary dysfunction; recessive
microphthalmia
PANK2
Recessive HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis
pigmentosa, and palladial degeneration); recessive Hallervorden-Spatz
syndrome
PAX2
Dominant renal-coloboma syndrome
PCDH15
Recessive Usher syndrome, type 1f; recessive deafness without retinitis
pigmentosa; digenic Usher syndrome with CDH23
PDE6A
Recessive retinitis pigmentosa
PDE6B
Recessive retinitis pigmentosa; dominant congenital stationary night blindness
PDE6C
Recessive cone dystrophy, early onset; recessive complete and incomplete
achromatopsia
PDE6G
Recessive retinitis pigmentosa
PDZD7
Recessive non-syndromic deafness
PEX1
Recessive Refsum disease, infantile form
PEX7
Recessive Refsum disease, adult form
PGK1
Retinitis pigmentosa with myopathy
PHYH
Recessive Refsum disease, adult form
PITPNM3
Dominant cone-rod dystrophy
PLA2G5
Recessive benign fleck retina
PRCD
Recessive retinitis pigmentosa
PRD
Retinal dysplasia, primary
PROM1
Recessive retinitis pigmentosa with macular degeneration; dominant Stargardtlike macular dystrophy; dominant macular dystrophy, bull's-eye; dominant cone
rod dystrophy
PRPF3
Dominant retinitis pigmentosa
PRPF31
Dominant retinitis pigmentosa
PRPF6
Dominant retinits pigmentosa
PRPF8
Dominant retinitis pigmentosa
PRPH2
Dominant retinitis pigmentosa; dominant macular dystrophy; digenic retinitis
pigmentosa with ROM1; dominant adult vitelliform macular dystrophy;
dominant cone-rod dystrophy; dominant central areolar choroidal dystrophy
PVRL1
Cleft lip/palate-ectodermal dysplasia syndrome;Orofacial cleft 7
PXMP3
Recessive Refsum disease, infantile form
RAI1
Smith-Magenis syndrome
RAX2
Cone-rod dystrophy, isolated; age-related macular degeneration, isolated
RB1
Dominant germline or somatic retinoblastoma; benign retinoma; pinealoma;
osteogenic sarcoma
RBP3
Recessive retinitis pigmentosa
RBP4
Recessive RPE degeneration
RCD1
Dominant retinal-cone dystrophy 1
RD3
Recessive Leber congenital amaurosis
RDH12
Recessive Leber congenital amaurosis with severe childhood retinal dystrophy;
dominant retinitis pigmentosa
RDH5
Recessive fundus albipunctatus; recessive cone dystrophy, late onset
RGR
Recessive retinitis pigmentosa; dominant choroidal sclerosis
RGS9
Recessive delayed cone adaptation
RGS9BP
Recessive delayed cone adaptation
RHO
Dominant retinitis pigmentosa; dominant congenital stationary night blindness;
recessive retinitis pigmentosa
RIMS1
Dominant cone-rod dystrophy
RLBP1
Recessive retinitis pigmentosa; recessive Bothnia dystrophy; recessive retinitis
punctata albescens; recessive Newfoundland rod-cone dystrophy
ROM1
Dominant retinitis pigmentosa; digenic retinitis pigmentosa with PRPH2
Rp1
Dominant retinitis pigmentosa; recessive retinitis pigmentosa
RP1L1
dominant occult macular dystrophy
Rp2
X-linked retinitis pigmentosa; X-linked retinitis pigmentosa, dominant
Rp8
Dominant retinitis pigmentosa with sensorineural deafness
Rp9
Recessive Bardet Biedl syndrome
RPE65
Recessive Leber congenital amaurosis; recessive retinitis pigmentosa, dominant
retinits pigmentosa with choroidal invlovlement
X-linked retinitis pigmentosa, recessive; X-linked retinitis pigmentosa,
RPGR
Dominant; X-linked cone dystrophy 1; X-linked atrophic macular dystrophy,
recessive
RPGRIP1
Recessive Leber congenital amaurosis; recessive cone-rod dystrophy
RPGRIP1L
Recessive Joubert syndrome; recesssive Meckel syndrome
RRM2B
Retinal disease
RS1
Retinoschisis
SAG
Recessive Oguchi disease; recessive retinitis pigmentosa
SDCCAG8
Recessive nephronophthisis, ciliopathy-related
SEMA4A
Dominant retinitis pigmentosa; dominant cone-rod dystrophy
SLC24A1
Recessive congenital stationary night blindness
SLC6A5
Hyperekplexia 3
SNRNP200
Dominant retinitis pigmentosa
SPATA7
Recessive Leber congenital amaurosis; recessive RP, juvenile
SYNE2
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TCHP
Not known to cause disease
TEAD1
Dominant atrophia areata
TIMM8A
Optic atrophy with deafness-dystonia syndrome
TIMP3
Dominant Sorsby's fundus dystrophy
TK2
Retinal disease
TLR3
Age-related macular degeneration, complex etiology
TLR4
Age-related macular degeneration, complex etiology
TLR6
MED
TMEM126A
Recessive non-syndromic optic atrophy
TMEM216
Joubert syndrome 2;Meckel syndrome 2
TMEM237
Recessive Jobert syndrome
TOPORS
Dominant retinitis pigmentosa
TREX1
Dominant retinal vasculopathy with cerebral leukodystrophy; dominant AicardiGoutiere syndrome 1, dominant chilblain lupus
TRIM32
Recessive Bardet-Biedl syndrome; recessive limb-girdle muscular dystrophy
TRPM1
Recessive congenital stationary night blindness, complete
TSPAN12
Dominant familial exudative vitreoretinopathy
TTC8
Recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa
TTPA
Recessive retinitis pigmentosa and/or recessive or dominant ataxia
TULP1
Recessive retinitis pigmentosa; recessive Leber congenital amaurosis
UNC119
Dominant cone-rod dystrophy
USH1C
Recessive Usher syndrome, Acadian; recessive deafness without retinitis
pigmentosa
USH1G
Recessive Usher syndrome
USH2A
Recessive Usher syndrome, type 2a; recessive retinitis pigmentosa
VCAN
Dominant Wagner disease and erosive vitreoretinopathy
VPS13B
Cohen syndrome
WDPCP
Recessive Bardet-Biedl syndrome
WDR19
Recessive renal, skeletal and retinal anomalies
WFS1
Recessive Wolfram syndrome; dominant low frequency sensorineural hearing
loss
WDPCP
Recessive Bardet-Biedl syndrome
WDR19
Recessive renal, skeletal and retinal anomalies
Table S1: List of genes that were included in our capture panel and their reason for inclusion. Panel
design files are available upon request.
Table S2: Description of 48 patients with compound heterozygous or
homozygous ABCA4 mutations
Patient ID
/ Cohort
9 / Can
12 / FC
14 / Can
17 / FC
26 / Can
28 / FC
44 / Can
53 / FC
54 / Can
64 / Can
65 / FC
Genotype
Compound
cDNA change
c.6383 A>G
Protein
p.(H2128R)
Justification
Known1
Heterozygous
c.785 G>A
p.(G1961E)
Known 2
Compound
c.6079 C>T
p.(L2027F)
Known 3
Heterozygous
c.2461 T>A
p.(W821R)
Known 2
Compound
c.4256 T>C
p.(M1419T)
Known(Ret. Dys.) 4
Heterozygous
c.1995 C>A
p.(Y665X)
Known (RP) 5
Compound
c.4139 C>T
p.(P1380L)
Known 2
Heterozygous
c.286 A>C
p.(N96H)
Known 6
Compound
c.6095 A>G
p.(H2032R)
Known7
Heterozygous
c.5692 C>T
p.(R1898C)
KAA(ARMD)8, SIFT, PolyP, N(2), Rare
Compound
c.167 T>C
p.(F56S)
SIFT, PolyP, NF
Heterozygous
c.5196+1137 G>A
Intronic
Known9
Compound
c.5882 G>A
p.(G1961E)
Known 2
Heterozygous
c.3065 A>G
p.(E1022G)
KAA10, SIFT, PolyP, NF
Compound
c.6089 G>A
p.(R2030Q)
Known 2
Heterozygous
c.2609 C>T
p.(P870L)
SIFT, PolyP, NF
c.2034 G>T
p.(K678N)
SIFT, PolyP, NF
Compound
c.3113 C>T
p.(A1038V)
Known 11
Heterozygous
c.1622 T>C
p.(L541P)
Known 12
Compound
c.5882 G>A
p.(G1961E)
Known 2
Heterozygous
c.4139 C>T
p.(P1380L)
Known 2
c.3758 C>T
p.(T1253M)
Known 13
c.5882 G>A
p.(G1961E)
Known 2
Compound
Heterozygous
67 / Can
71 / Can
74 / Can
c.3758 C>T
p.(T1253M)
Known 13
Compound
c.5692 C>T
p.(R1898C)
KAA(ARMD)8, SIFT, PolyP, N(2), Rare
Heterozygous
c.5882 G>A
p.(G1961E)
Known 2
Compound
c.5882 G>A
p.(G1961E)
Known 2
Heterozygous
c.2587+2T>C
Splicing
Splice, NF
c.1834 C>T
p.(Q612X)
Stop, NF
Compound
c.5882 G>A
p.(G1961E)
Known 2
Heterozygous
c.5512 C>G
p.(H1838D)
Known 14
77 / Can
Homozygous
c.6389 T>C
p.(M2130T)
KAA2, SIFT, PolyP, NF
78 / FC
Homozygous
c.4139 C>T
p.(P1380L)
Known 2
81 / Can
Compound
c.2128 A>G
p.(M710V)
NF
Heterozygous
c.1819 G>C
p.(G607R)
Known 15
Compound
c.6287 A>G
p.(E2096G)
KAA2, SIFT, PolyP, NF, N(2)
Heterozygous.
c.5882 G>A
p.(G1961E)
Known 2
Compound
c.634 C>T
p.(R212C)
Known 16
Heterozygous
c.1622 T>C
p.(L541P)
Known 17
c.3113 C>T
p.(A1038V)
Known 3
Compound
c.3113 C>T
p.(A1038V)
Known 3
Heterozygous
c.1622 T>C
p.(L541P)
Known 17
85 / Can
88 / Can
89 / Can
92 / Can
Homozygous
c.4139 C>T
p.(P1380L)
Known 2
93 / Can
Homozygous
c.4139 C>T
p.(P1380L)
Known 2
98 / Can
Compound
c.5882 G>A
p.(G1961E)
Known 2
Heterozygous
c.4919 G>A
p.(R1640Q)
Known 18
Compound
c.5882 G>A
p.(G1961E)
Known 2
101 / Can
104 / Can
108 / Can
Heterozygous
c.4919 G>A
p.(R1640Q)
Known 18
Compound
c.4139 C>T
p.(P1380L)
Known 2
Heterozygous
c.4594 G>A
p.(D1532N)
Known 2
Compound
c.4139 C>T
p.(P1380L)
Known 2
Heterozygous
c.6079 C>T
p.(L2027F)
Known 19
p.(H1941P)
Rare
117 / Can
Homozygous
118 / Can
Compound
c.6287 A>G
p.(E2096G)
KAA2, SIFT, PolyP, NF N(2)
Heterozygous
c.5882 G>A
p.(G1961E)
Known 2
c.3758 C>T
p.(T1253M)
Known 13
119 / Can
c.5822 A>C
Compound
c.5882 G>A
p.(G1961E)
Known 2
Heterozygous
c.3608 G>A
p.(G1203E)
Known 20
c.4538_4539insC p.(Q1513fs)
FS
Compound
c.6282+1 G>C
Splicing
Known 21
Heterozygous
c.1035 T>G
p.(Y345X)
Stop, NF
122 / Chi
Homozygous
c.1819 G>A
p.(G607R)
Known 15
124 / Chi
Compound
c.6816+1 G>A
Splicing
Splicing, NF
Heterozygous
c.5196+1 G>A
Splicing
Known 8
121 / Chi
125 / Chi
126 / Chi
128 / Chi
131 / Chi
Compound
c.6098 T>C
p.(L2033P)
KAA(CRD) 22, SIFT, PolyP, NF
Heterozygous
c.70 C>T
p.(R24C)
SIFT, PolyP, Rare
Compound
c.6119 G>A
p.(R2040Q)
Known 23
Heterozygous
c.5776 C>T
p.(Q1926X)
Stop, NF
Compound
c.6563 T>C
p.(F2188S)
Known 24
Heterozygous
c.1804 C>T
p.(R602W)
Known 2
p.(Q1291X)
Stop, NF
Compound
c.3871 C>T
132 / Chi
133 / Chi
134 / Chi
136 / Chi
Heterozygous
c.6196delT
p.(C2066fs)
FS, Splice, NF
Compound
c.2948 C>T
p.(T983I)
Known 25
Heterozygous
c.3364 G>A
p.(E1122K)
Known 2
Compound
c.6289 C>T
p.(P2097S)
NF, SIFT, PolyP
Heterozygous
c.4605_4606insT
p.(V1535fs)
FS, NF
Compound
c.6563 T>C
p.(F2188S)
Known 24
Heterozygous
c.885delC
p.(D295fs)
FS, NF
Compound
c.1958 G>A
p.(R653H)
KAA 15
Heterozygous
c.1804 C>T
p.(R602W)
Known 2
p.(E813K)
SIFT, PolyP, NF
138 / Chi
Homozygous
139 / Chi
Compound
c.6287 A>T
p.(E2096V)
KAA 2
Heterozygous
c.3812delA
p.(E1271fs)
FS, Splice, NF
140 / Chi
c.2437 G>A
Compound
c.5593 C>T
p.(H1865Y)
NF
Heterozygous
c.2424 C>G
p.(Y808X)
Stop, N(2), NF
c.5302-5303del
p.(V1768fs)
FS, NF
c.1561delG
p.(V521fs)
FS, NF
144 / Chi
Homozygous
146 / Chi
Compound
c.2424 C>G
p.(Y808X)
Stop, N(2), NF
Heterozygous
c.3071 T>C
p.(M1024T)
SIFT, PolyP, NF
Compound
c.6389 T>A
p.(M2130K)
Known 26
Heterozygous
c.3194 G>T
p.(G1065V)
SIFT, PolyP, NF
Compound
c.1804 C>T
p.(R602W)
Known 2
Heterozygous
c.6190 G>A
p.(A2064T)
KAA25, SIFT, PolyP, NF
Compound
c.983 A>T
p.(E328V)
Known15
Heterozygous
c.517delC
p.(L173fs)
FS, NF
148 / Chi
149 / Chi
150 / Chi
Table S2: Description of 48 patients with compound heterozygous or homozygous ABCA4 mutations. All
coordinates are based on transcript number NM_000350. FC = French Canadian, Can= other Canadian, Chi =
Chinese. The “Justification” column presents the evidence for all novel pathogenic ABCA4 alleles identified
in this study. For references, please see “Supplemental References” below. Under Justification, “KAA”
indicates a different amino acid substitution at the mutant position is known to cause disease while “Known”
indicates the change is known to cause disease. If the disease the mutation was associated with is not STGD, it
follows in parenthesis. RP stands for Retinitis Pigmentosa; PD stands for Pattern Dystrophy, USH1 stands for
Usher Syndrome Type 1. The following key was used for the justification column: Sift = Predicted damaging
by SIFT. PolyP = Predicted damaging by Polyphen 2. Stop = Predicted Stopgain. FS = Predicted Frameshift.
Splice = Predicted splice site loss mutation. NF = Not found in control database. Rare = frequency in control
database < .001. N(p) = Number of other patients in this STGD cohort with this mutation (i.e. N(5) means 5
patients in this cohort had this mutation). Sanger tracks available on request.
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