V1 c2502TgtC p Glu84Glyfs10 Ser42Phefs2 V2 c7027del pVal2343Phefs4 declined genetic tests 223F17001 no contact 224 V1 deceased 50 y 602 V1 ID: 1042479
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1. V1|V2+|V2V1|+V1|+CEP290V1: c.250+2T>C, p.[=,Glu84Glyfs*10,Ser42Phefs*2]V2: c.7027del, p.(Val2343Phefs*4)declined genetic tests+|+223_F17-001
2. no contact224V1|+deceased50 y.602V1|+601+|+224_F17-002PRPF31V1:c.1040del, p.(Leu347Argfs*16)600+|+
3. 225V1|V2V3225_F17-003437+|V2V3ABCA4V1: c.634C>T, p.(Arg212Cys)V2: c.1622T>C, p.(Leu541Pro)V3: c.3113C>T, p.(Ala1038Val)436V1|+430V1|V2V3
4. 226840226_F17-004838839
5. 247V1|+TOPORS V1: c.2439_2440del, p.(Arg814*)441V1|+438439440+|+V1|++|+no symptomsincomplete penetrance227_F17-005
6. 228_F17-006228
7. 229V1|V2444V1|V2445V1|V2229_F17-007ABCA4V1: c.4537dup, p.(Gln1513Profs*42)V2: c.5461-10T>C, p.[Thr1821Valfs*13, Thr1821Aspfs*6]442+|V2443V1|+
8. 515+|V3516+|V3230V1V2|V3230_F17-008ABCA4V1: c.634C>T, p.(Arg212Cys)V2: c.1622T>C, p.(Leu541Pro)V3: c.5603A>T, p.(Asn1868Ile)
9. AMD231V1|V2457V1|+ABCA4 V1: c.4234C>T, p.(Gln1412*)V2: c.5882G>A, p.(Gly1961Glu)231_F17-009
10. 235_F17-010235V1V2|V3ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.5714+5G>A, p.[=, Glu1863Leufs*33]460V1V2|+461V1V2|V3458+|V3459V1V2|+
11. 236_F17-011236
12. 237_F17-012237V1|V2470+|V2CRB1V1: c.2171A>G, p.(Tyr724Cys)V2: c.2843G>A, p.(Cys948Tyr)
13. 239V1|V2239_F17-014ABCA4V1: c.194G>A, p.(Gly65Glu)V2: c.2588G>C, p.(Gly863Ala)446V1|+447+|V2448+|V2
14. 240V1V2|V1V2240_F17-015518V1V2|+517V1V2|+519V1V2|+ABCA4V1: c.1622T>C, p.(Leu541Pro) V2: c.3113C>T, p.(Ala1038Val)
15. 241_F17-016RPGR V1: c.385_386del, p.(Thr129Phefs*5)241V1507V1506+509V1|+510+511V1508+512V1513V1514V1
16. 242_F17-017C21ORF2 V1: c.33_34ins16, p.(Ala12Serfs*60)876+|+242V1|V1875V1|+874+|+
17. 243_F17-018243
18. 742+|+244V1|+743+|+244_F17-019GUCY2DV1: c.2798T>C, p.(Val933Ala)
19. 245245_F17-020
20. 449+|+450+|V2451V1|+247_F17-022247V1|V2ABCA4V1: c.194G>A, p.(Gly65Glu)V2: c.5882G>A, p.(Gly1961Glu)453V1|+452+|V2
21. 248V1|V2248_F17-023MAK V1: c.1625_1628delATCA, p.(Asn542Serfs*22)V2: c.359-2A>G, p.(?)contactlost
22. 251_F17-024 CNGB3V1: c.819_826del, p.(Arg274Valfs*13)PROM1V2: c.1697dup, p.(Asn566Lysfs*2)251V1|+V2|+
23. 252_F17-025ABCA4V1: c.1622T>C, p.(Leu541Pro) V2: c.3113C>T, p.(Ala1038Val)252V1|V1V2252.2+|V1V2252.1V1|+
24. 253_F17-026V1: c.1622T>C, p.(Leu541Pro) V2: c.3113C>T, p.(Ala1038Val)V3: c.2041C>T, p.(Arg681*)253V1V2|V3645V1V2|+646+|V3
25. 254_F17-027254V1|V1641+|+642V1|+CNGA3V1: c.847C>T, p.(Arg283Trp)
26. 255_F17-028 255V1|V2765+|V2766767V1|+763V1|+764+|V2ABCA4V1: c.5684_5685del, p.(Leu1895Argfs*16)V2: c.5882G>A p.(Gly1961Glu)
27. 256_F17-029 256V1|+770+|+768+|+798+|+769V1|+562V1|+561V1|+799+|+761+|+489V1|+762+|+GUCY2DV1: c.2512C>T, p.(Arg838Cys)
28. 257_F17-030257
29. 258_F17-031258
30. 260V1|V2260 _F17-032 259V1|V2PDE6HV1: c.-42+1G>A, p.(?)V2: c.35C>G, p.(Ser12*)636V1|+no contact
31. 261_F17-033261V1|+MERTKV1: c.345C>G, p.(Cys115Trp)
32. 262_F17-034262
33. 263_F17-035263V1|+PRPF8V1: c.5792C>T, p.(Thr1931Met) no contactno contact
34. 264_F17-036264V1V2|V3537+|+535+|V3536V1V2|+ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.634C>T, p.(Arg212Cys)
35. 265_F17-0372651971V1|+CRB1V1: c.776G>T, p.(Trp259Leu)
36. 266_F17-038 ?266V1|V2probable STGD; onset 35 y.whole gene not testedABCA4V1: c.2894A>G, p.(Asn965Ser)V2: c.6319_6325del, p.(Arg2107Cysfs*6)628+|V2299+|V2630V1|V2631+|+629V1|+
37. 267_F17-039267V1|V2CRB1V1: c.2042G>A, p.(Cys681Tyr) V2: c.2843G>A, p.(Cys948Tyr)554V1|+553+|V2
38. 268_F17-040268highmyopiahighmyopia
39. 269_F17-041269V1|V1C21orf2V1: c.218G>C; p.(Arg73Pro)845V1|+844V1|+843V1|+
40. 270_F17-042270V1|+271V1|+272+|+1998273V1|+AIPL1V1: c.737A>C, p.(Tyr246Ser)
41. 274_F17-043274V1|V2CNGA3V1: c.829C>T, p.(Arg277Cys)V2: c.848G>A, p.(Arg283Gln)275V1|V2475V1|+474+|V2
42. 276_F17-044276V1|V1670V1|+669V1|+668V1|+CNGB3V1: c.1148del, p.(Thr383Ilefs*13)
43. 277_F17-045277V1|V2546+|+544V1|+545+|V2ABCA4V1: c.1211C>A, p.(Ser404*)V2: c.5882G>A, p.(Gly1961Glu)
44. 278V1|V2576V1|+575+|V2577+|V2CEP290V1: c.223A>G, p.(Lys75Glu)V2: c.1984C>T, p.(Gln662*)278_F17-046
45. 279_F17-047279V1|V1CRB1V1: c.3409T>C, p.(Cys1137Arg)541V1|+542V1|+
46. 281_F17-049 281
47. 282_F17-050 282V1CACNA1FV1: c.847T>C, p.(Cys283Arg) 632+633V1|+634V1|+
48. 283_F17-051283V1|+IMPDH1V1: c.968A>G, p.(Lys323Arg)8228213820823824
49. 284_F17-052284V1V2|V3746+|V3747V1V2|+ABCA4V1: c.454C>T, p.(Arg152*)V2: c.6148G>C, p.(Val2050Leu)V3: c.2588G>C, p.[Gly863Ala,Gly863del]
50. 285_F17-0532852
51. 286_F17-054 661+|+286V1|V2ABCA4V1: c.5196+1G>A, p.(?)V2: c.2626C>T, p.(Gln876*)659+|V2660V1|+
52. 287_F17-055287V1|V1776V1|+777V1|+PDE6BV1: c.1243G>A, p.(Glu415Lys)774V1|+775V1|+
53. 288_F17-056 288
54. 289_F17-057289V1V2|V3ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.3056C>T, p.(Thr1019Met)291V1V2|V1V2290+|+564V1V2|+565+|V3night blindness;legally blindSTGD
55. 292_F17-058292V1|V2CEP290V1: c.185A>G, p.(Lys62Arg)V2: c.2991+1655A>G, p.(Cys998*)456+|V2454V1|+455V1|+
56. 293_F17-059293
57. 295_F17-0602952????
58. 297_F17-061297
59. 298_F17-062298V1|V2557+|V2555V1|+556+|V2ABCA4V1: c.4234C>T, p.(Gln1412*)V2: c.710T>C, p.(Leu237Pro)
60. 300_F17-063300V1|V1RDH12c.806_810del, p.(Ala269Glyfs*2)530V1|+529V1|+
61. 301V1|V1301_F17-064NR2E3V1: c.119-2A>C, p.(?)842V1|+841V1|+
62. 781V1V2|?302_F17-065ABCA4V1: c.2588G>C, p.[Gly863Ala,Gly863del]V2: c.5603A>T, p.(Asn1868Ile)V3: c.(2653+1_2654-1)_(*1_?)del, p.(Gly885Valfs*71)302V1V2|V3782+|?783+|?
63. 303_F17-0663032007V1|+2304V1|+2NRLV1: c.149C>T, p.(Ser50Leu)V1|+tested abroad825V1|+
64. 305V1V2|V3305_F17-068ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.4139C>T, p.(Pro1380Leu)693+|V3694V1V2|+695+|V3
65. 306_F17-069306
66. 307_F17-070547V1|+548+|V2549V1|V2550V1|+551V1|+307V1|V2552+|+MERTKV1: c.79G>T, p.(Glu27*)V2: c.345C>G, p.(Cys115Trp)
67. 308V1|V2CEP290V1: c.4962_4963delAA, p.(Glu1656Asnfs*3)V2: c.2991+1655A>G, p.(Cys998*)573V1|+574+|V2308_F17-071
68. 309_F17-072309V1V2|V3ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.4234C>T, p.(Gln1412*)830+|V3829+|V3 828+|+826V1V2|+827+|V3
69. ??310V1|+IMPDH1V1: c.809T>G p.(Leu270Arg)310_F17-073child adopted, no data
70. 311_ F17-074311V1|+RHOV1: c.403C>T, p.(Arg135Trp) 725+|+726+|+
71. 313_F17-076627V1|+CNGA3 V1: c.1641C>A, p.(Phe547Leu)313V1|V1626V1|+625V1|+
72. 314_F17-077314V1|V2ABCA4 V1: c.61C>T, p.(Gln21*)V2: c.3413T>A, p.(Leu1138His)540V1|+539V1|+538+|V2
73. 315_F17-078315V1|+?CEP290V1: c.4882C>T, p.(Gln1628*)
74. 316_F17-079316V1V2|V1V2ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)558V1V2|+559V1V2|+
75. 317V1|V1317_F17-080CNGA1V1: c.301C>T, p.(Arg101*)declined genetic tests
76. 318_F17-081318V1|V2ABCA4V1: c.3364G>T, p.(Glu1122*)V2: c.4234C>T, p.(Gln1412*)580?|+578+|V2579V1|+
77. 319V1|+4569??568V1|+320V1319V1|+RPGRc.632T>G, p.(Leu211Arg)320_F17-082
78. 321_F17-083322V1|V2321V1|V2748V1|+749+|V2ABCA4 V1: c.4234C>T, p.(Gln1412*)V2: c.5882G>A, p.(Gly1961Glu)
79. 323323_F17-084
80. 324_F17-085324V1|+ABCA4 V1: c.5882G>A, p.(Gly1961Glu)
81. 325_F17-086 325V1|V2773V1|+771V1|+772+|V2ABCA4V1: c.66G>A, p.(Lys22=)V2: c.454C>T, p.(Arg152*)
82. 326_F17-087326V1|V2no contact792+|V2CNGB3V1: c.819_826del, p.(Arg274Valfs*13)V2: c.1578+1G>A, p.(?)
83. 327V1V2|V3570+|V3572+|+571V1V2|+ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.4234C>T, p.(Gln1412*)327_F17-088
84. 328_F17-089no contactCNGA3 V1: c.829C>T, p.(Arg277Cys)V2: c.1379T>C, p.(Leu460Pro)328V1|V2599V1|+
85. 330_F17-091330V1|+IMPG2V1: c.1963delA, p.(Met655Trpfs*46)
86. 331_ F17-092331
87. 332_ F17-093331
88. 333_F17-095333V1|V1ABCA4V1: c.5196+1G>A, p.(?)608+|+609V1|V1606V1|+607V1|+
89. 334_F17-09642CHM V1: c.173G>A, p.(Trp58*)334V1501V1503V1|+504V1|+505V1502+RP
90. 335_F17-097335
91. 336_F17-098336
92. 337_F17-099666V1667V1337V1?664+665V1|+RPGRV1: c.1245+1G>A, p.(?)
93. 524V1V2|+525V1V2|+527V1V2|V1V2338V1V2|V1V2526V1V2|+523V1V2|+ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)528+|+338_F17-100
94. 339339_F17-101
95. 340_F17-102466V1|+340V1|+468+|+469+|+467V1|+BEST1V1: c.652C>T, p.(Arg218Cys)no symptomsincomplete penetrance
96. RP1V1: c.2285_2289delTAAAT, p.Leu762Tyrfs*17?341V1|+753+|+688+|+no contact687+|+341_F17-103
97. 342_F17-104342V1868V1869V1|+871+870V1|+RPGRV1: c.3142_3143dup, p.(Glu1049Argfs*41)869V1
98. 521+|+344_F17-106344V1V2|V3ABCA4 V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.5882G>A, p.(Gly1961Glu) 520V1V2|+522+|+
99. 345_F17-107345V1V2|V3705V1V2|+703V1V2|+704+|V3ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.5882G>A, p.(Gly1961Glu)
100. 346V1|+346_F17-108700+|+GUCY2DV1: c.2513G>A, p.(Arg838His)699V1|+698+|+
101. 635?|?347V1V2|V3347_F17-109499+|V3500V1V2|+ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.5714+5G>A, p.[=, Glu1863Leufs*33]
102. 348_F17-110348V1|V2563+|?543+|V2ABCA4 V1: c.2588G>C, p.[Gly863Ala, Gly863del]V2: c.4234C>T, p.(Gln1412*)
103. 4651985V1|V2349_F17-1113491992V1|V24641986+|V24621964+|V24631960V1|+ABCA4 V1: c.1654G>A, p.(Val552Ile)V2: c.4234C>T, p.(Gln1412*) no symptomsincomplete penetrance(hypomorphic variant)
104. 350350_F17-112??
105. 605V1V3|V2V3351V1V3|V2V3351_F17-113603+|V2V3 orV2|V3604V1V3|+ orV1|V3ABCA4V1: c.2588G>C, p.[Gly863Ala, Gly863del]V2: c.5461-10T>C, p.[Thr1821Valfs,Thr1821Aspfs]V3: c.5603A>T, p.(Asn1868Ile)
106. 352_F17-113352
107. 353_F17-115353V1|+RHO:V1: c.539C>G, p.(Pro180Arg)596+|+597+|+598+|+
108. 354V1|V2354_F17-116?EYSV1: c.5802dup p.(Ile1935Tyrfs*6)V2: c.(7723+1_7724-1)_(8071+1_8072-1)dup p.(?)
109. 355V1|+355_F17-117CNGB3V1: c.1148del, p.(Thr383Ilefs*13)
110. 738+|+356V1V2|V3739+|+356_F17-118740+|V3ABCA4V1:1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.5882G>A, p.(Gly1961Glu)736+|V3737V1V2|+
111. 7801974V1|+357_F17-1193571976V1|V1PDE6BV1: c.1580T>C, p.(Leu527Pro)7791951V1|+7781951V1|+
112. 358_F17-120358V1|+optic neuropathyCNGA3V1: c.829C>T; p.(Arg277Cys)
113. 359V1|+359_F17-121RHOV1: c.1040C>A, p.(Pro347Gln)587V1|+590V1|+589+|+585V1|+586V1|+588+|+
114. 360_F17-122360V1624V1|+ ?RPGRV1: c.2237_2238del, p.(Glu746Glyfs*23)623V1|+727+
115. 362_F18-001RHOV1: c.754C>T p.(Arg252Cys)362V1|+789+|+ ?789V1|+788+|+
116. 363_F18-002363V1V2|V3ABCA4 V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.4234C>T, p.(Gln1412*)3619V1V2|V3620+|V3621V1V2|+622+|V3640V1|+639V1V2|+
117. 364_F18-003ABCA4V1: c.3413T>A, p.(Leu1138His)V2: c.4919G>A, p.(Arg1640Gln)758+|V2364V1|V2756+|V2757V1|+
118. 365_F18-004365
119. 366_F18-005366V1RPGRV1: c.154G>A, p.(Gly52Arg)671V1|+672V1|+673+674+|+
120. 367_F18-006367
121. 369_F18-008369
122. 370_F18-009370V1|V1V2ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)534V1|+533V1|V1V2531V1|+532+|V1V2
123. 878V1|V2371V1|V2877?|+884?|?EYSV1: c.1836_1837del, p.(His612Glnfs*16)V2: c.9286_9295del, p.(Val3096Leufs*28)371_F18-010
124. 372_F18-011372
125. 373_F18-012615V1V2|V4373V1V2|V3ABCA4V1:1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.5882G>A, p.Gly1961GluV4: c.5196+1G>A, p.(?)614+|V4611V1V2|+610+|V3612V1V2|V3613+|+616?|?617?|?
126. 374_F18-013cataractcataractvisionimpairment374V1|V1760V1|+759V1|+NR2E3V1: c.227G>A, p.(Arg76Gln)
127. 375_F18-014375
128. 376_F18-015no contact376V1|V2DYNC2H1V1: c.7987A>C, p.(Thr2663Pro)V2: c.12716T>G, p.(Leu4239Arg)813+|V2814V1|+
129. 653+|+377V1|V2ABCA4V1: c.3259G>A, p.(Glu1087Lys)V2: c.5714+5G>A, p.[=,Glu1863Leufs*33]593+|V2594V1|+637V1|+638V1|+377_F18-016
130. 379V1V2|V1V2ABCA4V1: 1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)379_F18-018
131. 381_F18-020381cataract
132. 382_F18-021382
133. 383_F18-022676V1V2|+383V1V2|+675+|+677+|+ABCA4V1: c.454C>T, p.(Arg152*)V2: c.6148G>C, p.(Val2050Leu)
134. 385_F18-024385V1|+STGDsuspectedhigh myopiacataractpartial vision lossABCA4V1: c.3261G>A, p.(Glu1087Asp)
135. 386_F18-025386
136. 387_F18-026387AMDRP
137. 388388_F18-027
138. 755V1V2|+389V1V2|V3389_F18-028754+|V3ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.4234C>T, p.(Gln1412*)
139. 390_F18-029592V1|+LHON390V1|V2591V1|+595+|V2RPE65V1: c.11+5G>A, p.(?)V2: c.304G>T, p.(Glu102*)
140. 391_F18-030663+|+ABCA4V1: c.4234C>T, p.(Gln1412*)V2: c.5714+5G>A, p.?391V1|V2683V1|+probableSTGDprobableSTGDprobableSTGD662V1|+
141. 392_F18-031392V1|V2707+|V2TULP1 V1: c.1025G>A, p.(Arg342Gln)V2: c.1255C>T, p.(Arg419Trp)692+|V2
142. 393_F18-032393cataract
143. 394_F18-033394V1|V2584+|V2PROM1V1: c.439C>T, p.(Gln147*) V2: c.1142-1G>A, p.(?)583V1|+
144. 394_F18-033394V1|V2584+|V2PROM1V1: c.439C>T, p.(Gln147*) V2: c.1142-1G>A, p.(?)583V1|+
145. 395_F18-034395V1;+RP2V1: c.768+2T=/>C, p.(?) (mosaic)618+|+
146. 396_F18-035glaucoma396
147. 397_F18-036ABCA4V1: c.4793C>A, p.(Ala1598Asp)V2: c.5196+1G>A, p.(?)795+|V2397V1|V2
148. 399_F18-038399V1|+AIPL1V1: c.890T>C, p.(Met297Thr)
149. 400_F18-039649+|+400V1|V1650+|+648+|+no contact651V1|V1652+|+647V1|+PROM1V1: c.1612delT, p.(Trp538Glyfs*15)
150. 403_F18-040403V1|V2ABCA4V1: c.3413T>A p.(Leu1138His)V2: c.4070C>T p.(Ala1357Val) 722+|V2724+|+723+|+
151. 404_F18-041 404
152. 405_F18-042405
153. 406_F18-043slight pigmentmottling406V1|+NRLV1: c.242_244del, p.(Gln81del)
154. 407_F18-044734V1V2|+ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c 3113C>T, p.(Ala1038Val)407V1V2|V1V2735V1V2|+
155. 408_F18-045408
156. 409_F18-046409
157. 410_F18-047410V1|V2ABCA4 V1: c.1937+1G>A, p.?V2: c.4918C>T, p.(Arg1640Trp)706V1|+
158. 412_F18-049412
159. 413_F18-050718V1|+720V1|+719V1|+413V1|V1ABCA4 V1: c.4234C>T, p.(Gln1412*) 717V1|+
160. 414_F18-051414
161. 415_F18-052415V1|V2RPE65V1: c.700C>T, p.(Arg234*)V2: c.1339-3C>G, p.(?) 712V1|V2710V1|+711+|V2
162. 416_F18-053810V1|+809+|+808V1|+797V1|+416V1|+RP1c.218_237dup, p.(Val80Argfs*8)
163. 417_F18-054786+|V3417V1V2|V3784V1V2|+785+|V3ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.5461-10T>C, p.[Thr1821Valfs*13,Thr1821Aspfs*6]
164. 418_F18-055418V1|+ABCA4 V1: c.5887C>T, p.(Arg1963Cys)
165. 420V1|+420_F18-057ABCA4 V1: c.587C>T, p.(Pro196Leu)
166. 421_F18-058421
167. 422_F18-059422V1|V1brak kontaktu654V1|+PROM1V1: c.1697dupA, p.(Asn566Lysfs*2)
168. 423_F18-060423
169. 424_F18-061424V1V2|V3657+|V3ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.5899-3T>G, p.(?)656+|V3655V1V2|+
170. 425_F18-064425
171. 426_F18-063426 ?
172. 427_F18-064715+|+716+|+ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.1022A>G, p.(Glu341Gly)714+|V3713V1V2|+427V1V2|V3
173. 428_F18-065750+|+ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.5461-10T>C, p.[Thr1821Valfs*13,Thr1821Aspfs*6] 428V1V2|V3751+|V3752+|V3
174. 429_F18-066central retinal vein thrombosis, amblyopia„dry” AMD, astigmatism„wet”AMD, pseudophakia, cataract, myopiamyopia, laser treatment of the retina, very poor eyesight, reason unknown, possibly related to diabetesretinal detachment, pseudophakia, cataract429
175. 476V1|V1476_F18-067691V1|+PDE6HV1: c.35C>G, p.(Ser12*)690V1|+689V1|+
176. 477_F18-068477V1|+IMPDH1V1: c.809T>G, p.(Leu270Arg)708V1|+709+|+no symptomsincomplete penetrance
177. 478V1V2|V3478_F18-069ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.2588G>C, p.[Gly863Ala, Gly863del]745V1V2|V3743+|V3744V1V2|+?
178. 479_F18-070479V1|V2V3678+|V2V3679V1|+ABCA4V1: c.634C>T, p.(Arg212Cys)V2: c.1622T>C; p.(Leu541Pro)V3: c.3113C>T, p.(Ala1038Val)681+|V2V3680+|+682+|+
179. 480_F18-071480V1V2|V1V2733V1V2|+731V1V2|+732V1V2|+ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)
180. 481_F18-072481
181. 485_F18-075485V1|V2V3ABCA4V1: c.634C>T, p.(Arg212CysV2: c.1622T>C, p.(Leu541Pro)V3: c.3113C>T, p.(Ala1038Val)no contactno contact
182. 486_F18-076486V1|V2ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.5714+5G>A, p.(?)696V1V2|+697+|V3
183. 487_F18-077CNGA3V1: c.847C>T, p.(Arg283Trp)V2: c.1641C>A, p.(Phe547Leu)487V1|V2730+|+728+|V2729V1|+
184. 488_F18-078488
185. 490_F18-080490V1V2|V3ABCA4V1: c.1622T>C, p.(Leu541Pro)V2: c.3113C>T, p.(Ala1038Val)V3: c.4352+1G>A, p.(?)643V1V2|V3644V1V2|+no DNASTGDRPRPSTGD
186. 491_F18-081491
187. 493_F18-083493
188. 494_F18-084494
189. 497_F18-087497V1|+498+|+USH2AV1: c.2610C>A, p.(Cys870*)
190. 581_F18-088581