ClinVar Miner

List of variants reported as pathogenic for cone-rod dystrophy

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 677
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968 0.00130
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter) rs200098356 0.00078
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter) rs71454844 0.00057
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438 0.00033
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_015072.5(TTLL5):c.1627G>A (p.Glu543Lys) rs199882533 0.00024
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269 0.00022
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_005148.4(UNC119):c.169A>T (p.Lys57Ter) rs267607166 0.00017
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala) rs779585931 0.00010
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
NM_014336.5(AIPL1):c.277-2A>G rs140808549 0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys) rs761622978 0.00008
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607 0.00007
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) rs752786160 0.00006
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) rs756840095 0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 0.00006
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_172240.3(POC1B):c.810+1G>T rs587777694 0.00006
NM_000350.3(ABCA4):c.764G>A (p.Arg255His) rs148387660 0.00005
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser) rs142326926 0.00005
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_000350.3(ABCA4):c.4773+3A>G rs759672616 0.00004
NM_001349884.2(DRAM2):c.494G>A (p.Trp165Ter) rs201422368 0.00004
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_020366.4(RPGRIP1):c.1111C>T (p.Arg371Ter) rs375859404 0.00004
NM_020366.4(RPGRIP1):c.1468-2A>G rs751342895 0.00004
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) rs192003551 0.00004
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701 0.00004
NM_033100.4(CDHR1):c.1219C>T (p.Arg407Ter) rs373978786 0.00004
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs) rs1200134985 0.00003
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys) rs137853291 0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033 0.00003
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter) rs769818541 0.00002
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter) rs756730335 0.00002
NM_000326.5(RLBP1):c.466C>T (p.Arg156Ter) rs776260543 0.00002
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter) rs145961131 0.00002
NM_000350.3(ABCA4):c.3050+5G>A rs61751262 0.00002
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602 0.00002
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys) rs62645952 0.00002
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_000554.6(CRX):c.206G>A (p.Arg69His) rs775073228 0.00002
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 0.00002
NM_001256789.3(CACNA1F):c.1276+34G>A rs782575860 0.00002
NM_003816.3(ADAM9):c.1130+1G>A rs786205085 0.00002
NM_014336.5(AIPL1):c.421C>T (p.Gln141Ter) rs200125117 0.00002
NM_014336.5(AIPL1):c.94C>T (p.Arg32Ter) rs139305531 0.00002
NM_015072.5(TTLL5):c.1166C>G (p.Ser389Ter) rs774889687 0.00002
NM_015072.5(TTLL5):c.2029C>T (p.Arg677Ter) rs138370992 0.00002
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766 0.00002
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg) rs535922252 0.00002
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys) rs565837539 0.00002
NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter) rs1030149008 0.00002
NM_020366.4(RPGRIP1):c.2711-2A>G rs766443371 0.00002
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440 0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 0.00002
NM_172240.3(POC1B):c.101-3T>G rs750116711 0.00002
NM_172240.3(POC1B):c.144del (p.Lys48fs) rs753599044 0.00002
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676 0.00001
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter) rs748798324 0.00001
NM_000180.4(GUCY2D):c.1566+1G>A rs1348467293 0.00001
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter) rs1290420698 0.00001
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter) rs61750161 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000180.4(GUCY2D):c.2383C>T (p.Arg795Trp) rs765910207 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778 0.00001
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670 0.00001
NM_000180.4(GUCY2D):c.3224+1G>C rs757823463 0.00001
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile) rs281865409 0.00001
NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter) rs1308509257 0.00001
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NM_000326.5(RLBP1):c.141+2T>C rs760650165 0.00001
NM_000326.5(RLBP1):c.141G>A (p.Lys47=) rs766278489 0.00001
NM_000326.5(RLBP1):c.282del (p.Phe95fs) rs759505780 0.00001
NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln) rs137853290 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397 0.00001
NM_000350.3(ABCA4):c.2345G>A (p.Trp782Ter) rs911580078 0.00001
NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg) rs61749433 0.00001
NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs) rs1005271380 0.00001
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys) rs61750061 0.00001
NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter) rs765429911 0.00001
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) rs61750065 0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398 0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946 0.00001
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935 0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137 0.00001
NM_000350.3(ABCA4):c.4253+5G>A rs61750138 0.00001
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro) rs61750567 0.00001
NM_000350.3(ABCA4):c.5312+1G>A rs886044750 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr) rs61750575 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038 0.00001
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys) rs61750652 0.00001
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser) rs61750658 0.00001
NM_000554.6(CRX):c.118C>T (p.Arg40Trp) rs749738655 0.00001
NM_000554.6(CRX):c.119G>A (p.Arg40Gln) rs771450991 0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_000554.6(CRX):c.128G>A (p.Arg43His) rs771736389 0.00001
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter) rs886039559 0.00001
NM_001256789.3(CACNA1F):c.2543+1G>A rs886044841 0.00001
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter) rs782740998 0.00001
NM_001330691.3(CEP78):c.1424del (p.Val475fs) rs1196886096 0.00001
NM_001349884.2(DRAM2):c.131G>A (p.Ser44Asn) rs786205665 0.00001
NM_001386393.1(PANK2):c.987del (p.Arg330fs) rs544616523 0.00001
NM_003816.3(ADAM9):c.1455C>A (p.Tyr485Ter) rs1588391640 0.00001
NM_003816.3(ADAM9):c.490C>T (p.Arg164Ter) rs137853041 0.00001
NM_003816.3(ADAM9):c.766C>T (p.Arg256Ter) rs137853040 0.00001
NM_004249.4(RAB28):c.651T>G (p.Cys217Trp) rs751163782 0.00001
NM_006017.3(PROM1):c.1142-1G>A rs752619497 0.00001
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter) rs886037880 0.00001
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_006017.3(PROM1):c.2077-521A>G rs796051882 0.00001
NM_006017.3(PROM1):c.730C>T (p.Arg244Ter) rs373331232 0.00001
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg) rs1264794214 0.00001
NM_014336.5(AIPL1):c.276+1G>A rs150097891 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_014336.5(AIPL1):c.97_104dup (p.Phe35delinsLeuTer) rs776129172 0.00001
NM_015072.5(TTLL5):c.211C>T (p.Arg71Ter) rs1439202144 0.00001
NM_020366.4(RPGRIP1):c.1219C>T (p.Gln407Ter) rs775425686 0.00001
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter) rs577932201 0.00001
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354 0.00001
NM_020366.4(RPGRIP1):c.282_283dup (p.Ala95fs) rs1881002905 0.00001
NM_020366.4(RPGRIP1):c.2895+1G>T rs748072501 0.00001
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter) rs752175052 0.00001
NM_020366.4(RPGRIP1):c.3617+1G>T rs771116776 0.00001
NM_020366.4(RPGRIP1):c.663dup (p.Asn222Ter) rs1233376985 0.00001
NM_020366.4(RPGRIP1):c.800+1G>A rs376500610 0.00001
NM_020366.4(RPGRIP1):c.898del (p.Val300fs) rs1566674893 0.00001
NM_022367.4(SEMA4A):c.1033G>C (p.Asp345His) rs267607033 0.00001
NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln) rs751644763 0.00001
NM_031478.6(TLCD3B):c.166G>A (p.Gly56Ser) rs745587834 0.00001
NM_145200.5(CABP4):c.757C>T (p.Arg253Ter) rs761991624 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_177965.4(CFAP418):c.244-2A>C rs1060505042 0.00001
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp) rs387907136 0.00001
NM_177965.4(CFAP418):c.555G>A (p.Trp185Ter) rs748014296 0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NC_000012.12:g.1839550_1875411del
NC_000014.8:g.(?_21756136)_(21756240_?)del
NC_000014.8:g.(?_21756136)_(22005055_?)del
NC_000014.8:g.(?_21762816)_(21762988_?)dup
NC_000014.8:g.(?_21762816)_(21795986_?)del
NC_000014.8:g.(?_21762977)_(21770303_?)del
NC_000014.8:g.(?_21785835)_(21786029_?)del
NC_000014.8:g.(?_21785835)_(21788356_?)del
NC_000014.8:g.(?_21785835)_(21796806_?)del
NC_000014.8:g.(?_21793972)_(21794928_?)del
NC_000014.8:g.(?_21795782)_(21795966_?)del
NC_000014.8:g.(?_21798388)_(21798566_?)del
NC_000014.9:g.(21329937_21330486)del
NC_000014.9:g.(?_21317696)_(21320177_?)del
NC_000017.10:g.(?_6328760)_(6616672_?)del
NC_000017.10:g.(?_6331618)_(6338424_?)del
NC_000017.10:g.(?_6337219)_(6337438_?)del
NC_000017.10:g.(?_6338309)_(6338424_?)del
NC_000017.10:g.(?_7906366)_(7911370_?)del
NC_000017.10:g.(?_7906366)_(7912924_?)del
NC_000017.10:g.(?_7919041)_(7919848_?)del
NC_000017.11:g.(?_8002902)_(8016550_?)del
NC_000017.11:g.6436899del rs1913249761
NC_000019.9:g.(?_48337701)_(48343224_?)del
NC_000019.9:g.(?_48339480)_(48343224_?)del
NC_000019.9:g.(?_48339500)_(48343224_?)del
NC_000019.9:g.(?_48342985)_(48346262_?)del
NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del
NG_009095.2:g.(16929_16947)_(21383_21401)del
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.3(GUCY2D):c.[2511G>C;2512C>A]
NM_000180.3(GUCY2D):c.[2511G>C;2512C>T;2516C>T]
NM_000180.4(GUCY2D):c.-2_3del (p.Met1fs) rs1451359371
NM_000180.4(GUCY2D):c.1008_1014del (p.Asp337fs)
NM_000180.4(GUCY2D):c.1089_1113del (p.Glu363fs)
NM_000180.4(GUCY2D):c.1116G>A (p.Trp372Ter)
NM_000180.4(GUCY2D):c.1116_1119dup (p.Ser374fs)
NM_000180.4(GUCY2D):c.1149_1155del (p.Asp384fs)
NM_000180.4(GUCY2D):c.1150del (p.Asp384fs)
NM_000180.4(GUCY2D):c.1245del (p.Phe415fs) rs1598146173
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1361_1367del (p.Asn454fs) rs2151800620
NM_000180.4(GUCY2D):c.1371C>A (p.Cys457Ter)
NM_000180.4(GUCY2D):c.1377_1378del (p.Gly460fs)
NM_000180.4(GUCY2D):c.1431del (p.Leu478fs)
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) rs1598146589
NM_000180.4(GUCY2D):c.144dup (p.Ala49fs)
NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter) rs1168076308
NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter) rs1349155167
NM_000180.4(GUCY2D):c.16_19del (p.Arg6fs)
NM_000180.4(GUCY2D):c.1724del (p.Pro575fs)
NM_000180.4(GUCY2D):c.1753C>T (p.Gln585Ter)
NM_000180.4(GUCY2D):c.175del (p.Leu59fs) rs2151799287
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs) rs794727952
NM_000180.4(GUCY2D):c.1780_1783del (p.Leu594fs)
NM_000180.4(GUCY2D):c.1784_1787del (p.Tyr595fs)
NM_000180.4(GUCY2D):c.1821_1824dup (p.Ala609fs)
NM_000180.4(GUCY2D):c.185G>A (p.Trp62Ter)
NM_000180.4(GUCY2D):c.186G>A (p.Trp62Ter)
NM_000180.4(GUCY2D):c.1957-2A>G rs945734402
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val) rs1424348888
NM_000180.4(GUCY2D):c.2071del (p.Leu691fs)
NM_000180.4(GUCY2D):c.2080C>T (p.Gln694Ter)
NM_000180.4(GUCY2D):c.2113+1G>A
NM_000180.4(GUCY2D):c.2209C>T (p.Gln737Ter) rs2151802829
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter) rs747951577
NM_000180.4(GUCY2D):c.2272C>T (p.Gln758Ter)
NM_000180.4(GUCY2D):c.2291del (p.Pro764fs)
NM_000180.4(GUCY2D):c.2291dup (p.Pro765fs)
NM_000180.4(GUCY2D):c.2323C>T (p.Gln775Ter)
NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs) rs1975911430
NM_000180.4(GUCY2D):c.2476C>T (p.Gln826Ter) rs1338490917
NM_000180.4(GUCY2D):c.2509del (p.Glu837fs)
NM_000180.4(GUCY2D):c.2512C>A (p.Arg838Ser) rs61750172
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2513G>C (p.Arg838Pro) rs61750173
NM_000180.4(GUCY2D):c.2516del (p.Thr839fs) rs756044745
NM_000180.4(GUCY2D):c.2538G>C (p.Lys846Asn) rs1598150539
NM_000180.4(GUCY2D):c.2549_2550del (p.Asp850fs)
NM_000180.4(GUCY2D):c.2632C>T (p.Gln878Ter)
NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter) rs1567961697
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs) rs1598150748
NM_000180.4(GUCY2D):c.2678_2679del (p.Ser893fs)
NM_000180.4(GUCY2D):c.2730dup (p.Leu911fs)
NM_000180.4(GUCY2D):c.2735_2736del (p.Leu911_Phe912insTer)
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter) rs1006935198
NM_000180.4(GUCY2D):c.2770-2A>G rs1975943416
NM_000180.4(GUCY2D):c.2846T>C (p.Ile949Thr) rs267606857
NM_000180.4(GUCY2D):c.2871del (p.Ser958fs) rs2151803659
NM_000180.4(GUCY2D):c.2899del (p.His967fs) rs61750183
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.2945-2A>C rs1975955933
NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)
NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter) rs1975957350
NM_000180.4(GUCY2D):c.2997del (p.Phe999fs) rs1975957618
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg) rs868612148
NM_000180.4(GUCY2D):c.3038G>A (p.Gly1013Glu) rs1975959442
NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter) rs866511152
NM_000180.4(GUCY2D):c.3074_3075del (p.Val1025fs)
NM_000180.4(GUCY2D):c.308A>T (p.Glu103Val)
NM_000180.4(GUCY2D):c.3105C>G (p.Tyr1035Ter) rs1975964112
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter) rs61750194
NM_000180.4(GUCY2D):c.3118_3125delinsAAGGTGAGGTAC (p.Arg1040fs)
NM_000180.4(GUCY2D):c.442del (p.Val148fs)
NM_000180.4(GUCY2D):c.450G>A (p.Trp150Ter)
NM_000180.4(GUCY2D):c.484dup (p.Ala162fs) rs2151799452
NM_000180.4(GUCY2D):c.51C>A (p.Cys17Ter)
NM_000180.4(GUCY2D):c.564del (p.Ala189fs) rs2151799492
NM_000180.4(GUCY2D):c.66G>A (p.Trp22Ter)
NM_000180.4(GUCY2D):c.690_693del (p.Lys232fs) rs2151799567
NM_000180.4(GUCY2D):c.781_782insT (p.Glu261fs)
NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter) rs143745703
NM_000180.4(GUCY2D):c.860del (p.Pro287fs)
NM_000180.4(GUCY2D):c.914del (p.His305fs) rs1598144694
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs) rs61749663
NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs) rs1975693728
NM_000180.4(GUCY2D):c.941dup (p.His314fs)
NM_000283.4(PDE6B):c.222dup (p.Val75fs) rs1734066547
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del) rs61755786
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter) rs1800111659
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter) rs61752390
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter) rs1557787756
NM_000350.3(ABCA4):c.1760+2T>G rs61751385
NM_000350.3(ABCA4):c.1765del (p.Trp589fs) rs1557787559
NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg) rs61749412
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn) rs61749418
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter) rs865990202
NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter) rs757302286
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.2055del (p.Thr685_Leu686insTer)
NM_000350.3(ABCA4):c.2063dup (p.Asn688fs)
NM_000350.3(ABCA4):c.2424C>G (p.Tyr808Ter)
NM_000350.3(ABCA4):c.2616_2617del (p.Phe873fs) rs62642560
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.3(ABCA4):c.2888del (p.Gly963fs) rs61752410
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.291_292del (p.Tyr97_Asn98delinsTer)
NM_000350.3(ABCA4):c.302+4A>C rs1662599697
NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala) rs61749457
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs) rs886044735
NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr) rs138641544
NM_000350.3(ABCA4):c.346_347del (p.Ala116fs) rs1662507319
NM_000350.3(ABCA4):c.3540_3555del (p.Ser1181fs) rs387906388
NM_000350.3(ABCA4):c.3639CCA[1] (p.His1215del) rs1570367398
NM_000350.3(ABCA4):c.3701C>T (p.Pro1234Leu) rs1383231039
NM_000350.3(ABCA4):c.4200C>A (p.Tyr1400Ter)
NM_000350.3(ABCA4):c.4253+5G>T rs61750138
NM_000350.3(ABCA4):c.4269C>T (p.Gly1423=) rs778456901
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4539+1G>T rs61751388
NM_000350.3(ABCA4):c.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter) rs1553188916
NM_000350.3(ABCA4):c.4720G>T (p.Glu1574Ter) rs1282472315
NM_000350.3(ABCA4):c.4895dup (p.Asn1632fs) rs1571257937
NM_000350.3(ABCA4):c.4981del (p.Pro1660_Leu1661insTer) rs2101022823
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp) rs121909206
NM_000350.3(ABCA4):c.5351T>C (p.Leu1784Pro)
NM_000350.3(ABCA4):c.5461-10T>G
NM_000350.3(ABCA4):c.5714+1G>A rs1232476760
NM_000350.3(ABCA4):c.5899-1G>T rs1553187160
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg) rs61753039
NM_000350.3(ABCA4):c.6181_6184del (p.Thr2061fs) rs1659200106
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
NM_000350.3(ABCA4):c.639del (p.Phe213fs) rs1662213462
NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter) rs757557272
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) rs63749055
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.716G>A (p.Trp239Ter) rs755733328
NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter) rs794727903
NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg) rs267606927
NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg) rs104894914
NM_000554.6(CRX):c.100+2T>G
NM_000554.6(CRX):c.100+3_100+5delinsTTA rs1064796109
NM_000554.6(CRX):c.101-1G>T rs1968115710
NM_000554.6(CRX):c.108del (p.Arg37fs) rs2123739840
NM_000554.6(CRX):c.116_127del (p.Gln39_Glu42del)
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) rs863224863
NM_000554.6(CRX):c.125_128dup (p.Thr44fs) rs2123739871
NM_000554.6(CRX):c.127C>T (p.Arg43Cys) rs1437021651
NM_000554.6(CRX):c.152_153del (p.Leu51fs) rs1968116898
NM_000554.6(CRX):c.159del (p.Glu53fs)
NM_000554.6(CRX):c.176_177del (p.Ala59fs) rs2123739943
NM_000554.6(CRX):c.238G>A (p.Glu80Lys) rs62654391
NM_000554.6(CRX):c.239A>C (p.Glu80Ala) rs104894671
NM_000554.6(CRX):c.252+2T>G
NM_000554.6(CRX):c.257G>A (p.Trp86Ter)
NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer) rs1968160841
NM_000554.6(CRX):c.292C>T (p.Arg98Ter) rs751018117
NM_000554.6(CRX):c.323del (p.Pro108fs) rs1968162287
NM_000554.6(CRX):c.324del (p.Gly110fs) rs2123742895
NM_000554.6(CRX):c.329del (p.Gly110fs)
NM_000554.6(CRX):c.365del (p.Gly122fs) rs1968163226
NM_000554.6(CRX):c.381del (p.Ser128fs) rs1599991268
NM_000554.6(CRX):c.404del (p.Pro135fs) rs1064797246
NM_000554.6(CRX):c.407_416dup (p.Asp140fs) rs1968164438
NM_000554.6(CRX):c.426C>A (p.Tyr142Ter) rs1968164899
NM_000554.6(CRX):c.431_434del (p.Pro144fs) rs1968165008
NM_000554.6(CRX):c.435del (p.Leu146fs) rs1968165217
NM_000554.6(CRX):c.447del (p.Ser150fs)
NM_000554.6(CRX):c.447dup (p.Ser150fs) rs61748444
NM_000554.6(CRX):c.449C>G (p.Ser150Ter) rs864309706
NM_000554.6(CRX):c.472del (p.Ala158fs)
NM_000554.6(CRX):c.488G>A (p.Trp163Ter)
NM_000554.6(CRX):c.494del (p.Pro165fs) rs2123743155
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) rs1599991611
NM_000554.6(CRX):c.500del (p.Ala166_Ser167insTer)
NM_000554.6(CRX):c.501del (p.Glu168fs) rs2123743175
NM_000554.6(CRX):c.502del (p.Glu168fs) rs1568626209
NM_000554.6(CRX):c.509del (p.Pro170fs) rs2123743184
NM_000554.6(CRX):c.512del (p.Leu171fs) rs1968166909
NM_000554.6(CRX):c.523C>T (p.Gln175Ter) rs1968167093
NM_000554.6(CRX):c.529del (p.Ala177fs) rs61748449
NM_000554.6(CRX):c.534_538del (p.Leu179fs)
NM_000554.6(CRX):c.541_542del (p.Ala181fs)
NM_000554.6(CRX):c.545C>G (p.Ser182Ter) rs2123743235
NM_000554.6(CRX):c.549dup (p.Pro184fs)
NM_000554.6(CRX):c.551dup (p.Ser185fs)
NM_000554.6(CRX):c.557del (p.Leu186fs)
NM_000554.6(CRX):c.569_570del (p.Pro190fs)
NM_000554.6(CRX):c.570dup (p.Tyr191fs) rs1968168564
NM_000554.6(CRX):c.571del (p.Tyr191fs) rs61748452
NM_000554.6(CRX):c.586_587del (p.Ala196fs) rs2123743320
NM_000554.6(CRX):c.586del (p.Ala196fs) rs1968169004
NM_000554.6(CRX):c.590del (p.Pro197fs) rs1968169100
NM_000554.6(CRX):c.591_594dup (p.Ser199fs)
NM_000554.6(CRX):c.592del (p.Ala198fs) rs1968169272
NM_000554.6(CRX):c.594_606del (p.Ser199fs) rs1968169319
NM_000554.6(CRX):c.597del (p.Ala200fs) rs2123743359
NM_000554.6(CRX):c.605del (p.Cys202fs) rs878853383
NM_000554.6(CRX):c.606C>A (p.Cys202Ter)
NM_000554.6(CRX):c.615del (p.Ser206fs) rs281865516
NM_000554.6(CRX):c.624T>G (p.Tyr208Ter) rs2123743395
NM_000554.6(CRX):c.660del (p.Tyr221fs) rs864309707
NM_000554.6(CRX):c.660dup (p.Tyr221fs) rs864309707
NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs)
NM_000554.6(CRX):c.661del (p.Tyr221fs) rs864309708
NM_000554.6(CRX):c.682C>T (p.Gln228Ter)
NM_000554.6(CRX):c.692_716del (p.Gly231fs)
NM_000554.6(CRX):c.714del (p.Gly239fs)
NM_000554.6(CRX):c.728dup (p.Pro244fs) rs1968172289
NM_000554.6(CRX):c.750del (p.Thr251fs) rs2123743577
NM_000554.6(CRX):c.753del (p.Ser252fs) rs61749660
NM_000554.6(CRX):c.766C>T (p.Gln256Ter) rs1968173024
NM_000554.6(CRX):c.76_80del (p.Met26fs) rs2123738324
NM_000554.6(CRX):c.816_818delinsAA (p.Thr273fs) rs2123743692
NM_000554.6(CRX):c.93del (p.Tyr32fs)
NM_001017979.3(RAB28):c.172+1G>C rs875989778
NM_001017979.3(RAB28):c.247_248dup (p.Tyr84fs)
NM_001017979.3(RAB28):c.409C>T (p.Arg137Ter) rs398123044
NM_001017979.3(RAB28):c.565C>T (p.Gln189Ter) rs786200944
NM_001029883.3(PCARE):c.1804_1805del (p.His603fs) rs1667508280
NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter) rs1572829866
NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs) rs62653029
NM_001034853.2(RPGR):c.1379del (p.Leu460fs) rs2147227522
NM_001034853.2(RPGR):c.1573-2A>G rs62635009
NM_001034853.2(RPGR):c.2149C>T (p.Gln717Ter)
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter) rs2067187550
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1]) rs777850798
NM_001034853.2(RPGR):c.2512del (p.Glu838fs) rs2147197281
NM_001034853.2(RPGR):c.2624_2643del (p.Glu875fs)
NM_001034853.2(RPGR):c.2847_2848inv (p.Glu949_Glu950delinsAspTer)
NM_001034853.2(RPGR):c.2917G>T (p.Glu973Ter) rs2067140471
NM_001034853.2(RPGR):c.2929G>T (p.Gly977Ter) rs137852551
NM_001034853.2(RPGR):c.3032del (p.Gly1011fs)
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs) rs606231181
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs) rs771214648
NM_001034853.2(RPGR):c.3364del (p.Met1122fs)
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs) rs281865297
NM_001034853.2(RPGR):c.550C>T (p.Gln184Ter)
NM_001034853.2(RPGR):c.597T>G (p.Tyr199Ter)
NM_001034853.2(RPGR):c.934G>A (p.Asp312Asn)
NM_001042432.2(CLN3):c.1197+2T>A rs2046020472
NM_001042432.2(CLN3):c.922_923del (p.Phe308fs) rs2046113301
NM_001256789.3(CACNA1F):c.1015-2A>G rs1602653110
NM_001256789.3(CACNA1F):c.157C>T (p.Gln53Ter)
NM_001256789.3(CACNA1F):c.1855del (p.Leu619fs) rs2147916504
NM_001256789.3(CACNA1F):c.1877+1G>T rs2147916480
NM_001256789.3(CACNA1F):c.2504del (p.Pro835fs) rs2147910175
NM_001256789.3(CACNA1F):c.2509G>A (p.Gly837Ser) rs863225090
NM_001256789.3(CACNA1F):c.3439-1_3442delinsTGG rs863223294
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter) rs782581701
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499
NM_001285403.4(AIPL1):c.466-24_466-21del
NM_001319074.4(RAX2):c.409G>C (p.Gly137Arg) rs121908281
NM_001319074.4(RAX2):c.411CCCGGG[3] (p.138PG[3]) rs549932754
NM_001319074.4(RAX2):c.443dup (p.His149fs)
NM_001319074.4(RAX2):c.465_475del (p.Ala156fs) rs886041039
NM_001330691.3(CEP78):c.1400_1402delinsCTTT (p.Leu467fs) rs1827340429
NM_001330691.3(CEP78):c.534del (p.Lys179fs) rs1057517695
NM_001330691.3(CEP78):c.893-1G>A rs1057517694
NM_001349884.2(DRAM2):c.140del (p.Gly47fs) rs746559651
NM_001349884.2(DRAM2):c.362A>T (p.His121Leu) rs786205664
NM_001349884.2(DRAM2):c.61GCT[1] (p.Ala22del) rs786205661
NM_001349884.2(DRAM2):c.80dup (p.Tyr27Ter) rs2101086076
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter) rs1426009756
NM_001384910.1(GUCA1A):c.250C>T (p.Leu84Phe) rs869320709
NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys) rs104893967
NM_001384910.1(GUCA1A):c.299A>G (p.Asp100Gly) rs1768016995
NM_001384910.1(GUCA1A):c.320T>C (p.Ile107Thr) rs869320710
NM_001384910.1(GUCA1A):c.359G>T (p.Arg120Leu) rs1582323732
NM_001384910.1(GUCA1A):c.359_360delinsTT (p.Arg120Leu) rs1554186441
NM_001384910.1(GUCA1A):c.443A>C (p.Asp148Ala) rs1554186472
NM_001384910.1(GUCA1A):c.451C>T (p.Leu151Phe) rs121434631
NM_001384910.1(GUCA1A):c.464A>G (p.Glu155Gly) rs1768050305
NM_002900.3(RBP3):c.3379C>T (p.Gln1127Ter) rs1588865728
NM_003143.3(SSBP1):c.113G>A (p.Arg38Gln) rs1799652893
NM_003816.3(ADAM9):c.1189A>T (p.Lys397Ter)
NM_003816.3(ADAM9):c.1396-2A>G rs786205151
NM_003816.3(ADAM9):c.1588_1591+10del rs2129438824
NM_003816.3(ADAM9):c.17_18del (p.Arg6fs)
NM_003816.3(ADAM9):c.411-8A>G rs786205086
NM_003816.3(ADAM9):c.639T>G (p.Tyr213Ter) rs1836637522
NM_005148.4(UNC119):c.601G>T (p.Glu201Ter) rs764936506
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1150_1151del (p.Arg384fs) rs1726238223
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.1578+1G>A rs1553901823
NM_006017.3(PROM1):c.1902C>G (p.Tyr634Ter)
NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) rs530749007
NM_006017.3(PROM1):c.2211+1G>A rs1719285721
NM_006017.3(PROM1):c.2281-20_2281-11del rs886037881
NM_006017.3(PROM1):c.262dup (p.Ile88fs) rs1210104601
NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter) rs368213921
NM_006017.3(PROM1):c.869del (p.Ser290fs) rs1355802816
NM_006017.3(PROM1):c.914dup (p.Leu306fs)
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del) rs1556313414
NM_014249.4(NR2E3):c.724_725del (p.Ser242fs) rs750740765
NM_014336.5(AIPL1):c.1010_1011del (p.Glu337fs) rs62637016
NM_014336.5(AIPL1):c.104_105insG (p.Phe35fs) rs1912920081
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.105_106insGTGATCTT (p.His36fs) rs1912919808
NM_014336.5(AIPL1):c.142_145del (p.Val48fs)
NM_014336.5(AIPL1):c.152A>G (p.Asp51Gly)
NM_014336.5(AIPL1):c.1A>G (p.Met1Val)
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe) rs775364986
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter) rs1468041544
NM_014336.5(AIPL1):c.289_292del (p.Tyr97fs)
NM_014336.5(AIPL1):c.294del (p.Ile99fs) rs1597331616
NM_014336.5(AIPL1):c.2T>C (p.Met1Thr)
NM_014336.5(AIPL1):c.325C>T (p.Gln109Ter) rs1912228419
NM_014336.5(AIPL1):c.34dup (p.Val12fs) rs752193525
NM_014336.5(AIPL1):c.364G>A (p.Gly122Arg)
NM_014336.5(AIPL1):c.454G>T (p.Glu152Ter)
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091
NM_014336.5(AIPL1):c.466-1G>C rs1567637467
NM_014336.5(AIPL1):c.487C>T (p.Gln163Ter) rs62637009
NM_014336.5(AIPL1):c.488_498del (p.Gln163fs) rs2150678060
NM_014336.5(AIPL1):c.512dup (p.Asn171fs) rs1912058703
NM_014336.5(AIPL1):c.547G>T (p.Gly183Ter) rs374255033
NM_014336.5(AIPL1):c.572T>C (p.Leu191Pro)
NM_014336.5(AIPL1):c.582C>G (p.Tyr194Ter) rs368845643
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro) rs62637010
NM_014336.5(AIPL1):c.597dup (p.Lys200fs) rs1283508592
NM_014336.5(AIPL1):c.59del (p.Gly20fs)
NM_014336.5(AIPL1):c.621C>A (p.Cys207Ter)
NM_014336.5(AIPL1):c.643-2A>T rs2150677132
NM_014336.5(AIPL1):c.665G>A (p.Trp222Ter) rs1912011058
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro) rs751881283
NM_014336.5(AIPL1):c.778dup (p.His260fs)
NM_014336.5(AIPL1):c.785-10_786del rs1911894399
NM_014336.5(AIPL1):c.826G>T (p.Glu276Ter) rs2150674982
NM_014336.5(AIPL1):c.867dup (p.Val290fs)
NM_014336.5(AIPL1):c.88G>T (p.Gly30Ter)
NM_014336.5(AIPL1):c.905_906del (p.Arg302fs)
NM_014336.5(AIPL1):c.950dup (p.Glu318fs)
NM_014336.5(AIPL1):c.96+4A>T rs772417830
NM_015072.5(TTLL5):c.1586_1589del (p.Glu529fs) rs587777469
NM_015072.5(TTLL5):c.1627G>T (p.Glu543Ter) rs199882533
NM_015072.5(TTLL5):c.2782dup (p.Met928fs) rs1555345387
NM_015072.5(TTLL5):c.3354G>A (p.Trp1118Ter) rs587777471
NM_015072.5(TTLL5):c.401del (p.Leu134fs) rs587777470
NM_015072.5(TTLL5):c.741-1G>A rs1887576038
NM_016247.4(IMPG2):c.829-2A>T
NM_020061.6(OPN1LW):c.269G>A (p.Trp90Ter) rs2067071714
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg) rs121434621
NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter) rs104894912
NM_020366.4(RPGRIP1):c.1060C>T (p.Gln354Ter)
NM_020366.4(RPGRIP1):c.1087_1090del (p.Arg363fs)
NM_020366.4(RPGRIP1):c.1089_1090dup (p.Val364fs) rs768719934
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.4(RPGRIP1):c.1145T>A (p.Leu382Ter) rs2139176356
NM_020366.4(RPGRIP1):c.1216del (p.Leu406fs)
NM_020366.4(RPGRIP1):c.1220dup (p.Gln408fs)
NM_020366.4(RPGRIP1):c.1243del (p.Asp415fs)
NM_020366.4(RPGRIP1):c.1309C>T (p.Gln437Ter)
NM_020366.4(RPGRIP1):c.1363del (p.Glu455fs) rs763671264
NM_020366.4(RPGRIP1):c.1447C>T (p.Gln483Ter) rs368781265
NM_020366.4(RPGRIP1):c.1468-128T>G
NM_020366.4(RPGRIP1):c.14_29dup (p.Asp11fs) rs1181453325
NM_020366.4(RPGRIP1):c.1612-3C>A rs1594204748
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.1646del (p.Asn549fs)
NM_020366.4(RPGRIP1):c.1687C>T (p.Arg563Ter) rs776963292
NM_020366.4(RPGRIP1):c.1713dup (p.Ile572fs)
NM_020366.4(RPGRIP1):c.172_173del (p.Met58fs)
NM_020366.4(RPGRIP1):c.1867C>T (p.Gln623Ter) rs772090790
NM_020366.4(RPGRIP1):c.1930C>T (p.Gln644Ter) rs2139227650
NM_020366.4(RPGRIP1):c.1995T>A (p.Cys665Ter) rs1225223445
NM_020366.4(RPGRIP1):c.2017C>T (p.Gln673Ter) rs1566341956
NM_020366.4(RPGRIP1):c.2024del (p.Leu675fs) rs2139228423
NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg)
NM_020366.4(RPGRIP1):c.2308_2311del (p.Lys770fs) rs1412625438
NM_020366.4(RPGRIP1):c.2367+1G>A rs1882968821
NM_020366.4(RPGRIP1):c.2368-2A>G rs1064797182
NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs) rs1739469293
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs) rs745741473
NM_020366.4(RPGRIP1):c.2480G>T (p.Arg827Leu) rs28937883
NM_020366.4(RPGRIP1):c.24dup (p.Ser9fs)
NM_020366.4(RPGRIP1):c.2668C>T (p.Arg890Ter) rs780587095
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs) rs61751270
NM_020366.4(RPGRIP1):c.2781del (p.Tyr929fs) rs1883254940
NM_020366.4(RPGRIP1):c.2910_2911del (p.Ser970_Pro971insTer)
NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter) rs1371805993
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.4(RPGRIP1):c.2974_2984del (p.Arg992fs)
NM_020366.4(RPGRIP1):c.2974del (p.Arg992fs) rs1594224781
NM_020366.4(RPGRIP1):c.3094_3095insT (p.Pro1032fs)
NM_020366.4(RPGRIP1):c.313C>T (p.Gln105Ter) rs2139156519
NM_020366.4(RPGRIP1):c.3275_3276dup (p.Ala1093fs) rs2139288271
NM_020366.4(RPGRIP1):c.3463G>T (p.Glu1155Ter)
NM_020366.4(RPGRIP1):c.3487dup (p.Arg1163fs) rs1885194108
NM_020366.4(RPGRIP1):c.3511del (p.Ile1171fs)
NM_020366.4(RPGRIP1):c.3512_3513insG (p.Ile1171fs)
NM_020366.4(RPGRIP1):c.358C>T (p.Gln120Ter)
NM_020366.4(RPGRIP1):c.3610C>T (p.Gln1204Ter) rs2139350315
NM_020366.4(RPGRIP1):c.3617+1G>A rs771116776
NM_020366.4(RPGRIP1):c.3618-1_3621del rs1594280740
NM_020366.4(RPGRIP1):c.3629_3630insG (p.Val1211fs) rs1885757549
NM_020366.4(RPGRIP1):c.3663_3666del (p.Lys1221fs) rs1594280914
NM_020366.4(RPGRIP1):c.3726dup (p.Ile1243fs)
NM_020366.4(RPGRIP1):c.399_408dup (p.Arg137fs)
NM_020366.4(RPGRIP1):c.442A>T (p.Arg148Ter)
NM_020366.4(RPGRIP1):c.521del (p.Pro174fs) rs1881077003
NM_020366.4(RPGRIP1):c.604_611del (p.Ser202fs)
NM_020366.4(RPGRIP1):c.664_665del (p.Asn222fs)
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_020366.4(RPGRIP1):c.711del (p.Lys239fs) rs2139160608
NM_020366.4(RPGRIP1):c.767C>G (p.Ser256Ter) rs2139160679
NM_020366.4(RPGRIP1):c.799C>T (p.Arg267Ter) rs554396590
NM_020366.4(RPGRIP1):c.808_826del (p.Ser269_Ile270insTer) rs2139168888
NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter) rs587783018
NM_020366.4(RPGRIP1):c.833del (p.Arg278fs)
NM_020366.4(RPGRIP1):c.853_854insGCCGAGTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTATTTTTTTGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTACATG (p.Glu285delinsGlyArgValProAlaIleAlaGlyAlaArgArgHisAlaTer)
NM_020366.4(RPGRIP1):c.906+2T>G rs1594180201
NM_020366.4(RPGRIP1):c.931-2_935delinsT rs2139175288
NM_022367.4(SEMA4A):c.1049T>G (p.Phe350Cys) rs267607034
NM_022787.3(NMNAT1):c.[53A>G];[769G>A]
NM_031478.6(TLCD3B):c.234del (p.Gln79fs) rs2150976700
NM_033100.4(CDHR1):c.1168-1G>A
NM_033100.4(CDHR1):c.1311_1316del (p.Leu437_Thr438del)
NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter) rs1589306127
NM_033100.4(CDHR1):c.1463del (p.Gly488fs) rs756678484
NM_033100.4(CDHR1):c.1485+2T>G rs767366723
NM_033100.4(CDHR1):c.1782+1del rs1589307705
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.338del (p.Gly113fs) rs747425652
NM_033100.4(CDHR1):c.616del (p.His206fs) rs1183979115
NM_033100.4(CDHR1):c.849C>A (p.Tyr283Ter)
NM_153638.2(PANK2):c.(?_-6)_(1662+1_1663-1)del
NM_172240.3(POC1B):c.199_201del (p.Gln67del) rs587777693
NM_172240.3(POC1B):c.317G>C (p.Arg106Pro) rs76216585
NM_172240.3(POC1B):c.417del (p.Leu140fs) rs2135738057
NM_172240.3(POC1B):c.560+2T>G rs1882924778
NM_172364.4(CACNA2D4):c.1720-74_2551+1189delinsTG
NM_177965.4(CFAP418):c.124del (p.Arg42fs) rs1563477144
NM_177965.4(CFAP418):c.155+2T>C rs1085307121
NM_177965.4(CFAP418):c.156-2A>G rs1064792853
NM_177965.4(CFAP418):c.363del (p.Asn121fs) rs1811856716
NM_177965.4(CFAP418):c.440G>A (p.Trp147Ter)
NM_177965.4(CFAP418):c.497T>A (p.Leu166Ter) rs1064792852
NM_177965.4(CFAP418):c.545A>G (p.Gln182Arg) rs387907137
NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln) rs1057519162
NM_201548.5(CERKL):c.1564T>G (p.Tyr522Asp) rs1201433512
NM_201548.5(CERKL):c.237_238+13del rs746128841
NM_201548.5(CERKL):c.541_542delinsTT (p.Glu181Leu) rs1689012192
NM_206933.4(USH2A):c.1143+1G>A rs397517974
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
Single allele

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