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_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)
|
rs200691042
|
0.00030
|
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.2894A>G (p.Asn965Ser)
|
rs201471607
|
0.00007
|
NM_000350.3(ABCA4):c.764G>A (p.Arg255His)
|
rs148387660
|
0.00005
|
NM_006017.3(PROM1):c.1301+2T>C
|
rs775957498
|
0.00004
|
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)
|
rs761911901
|
0.00003
|
NM_000539.3(RHO):c.491C>T (p.Ala164Val)
|
rs104893793
|
0.00002
|
NM_001256789.3(CACNA1F):c.1276+34G>A
|
rs782575860
|
0.00002
|
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)
|
rs759408031
|
0.00002
|
NM_000322.5(PRPH2):c.828+3A>T
|
rs281865373
|
0.00001
|
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu)
|
rs61750065
|
0.00001
|
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)
|
rs62645946
|
0.00001
|
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)
|
rs771038310
|
0.00001
|
NM_000350.3(ABCA4):c.5312+1G>A
|
rs886044750
|
0.00001
|
NM_000554.6(CRX):c.121C>T (p.Arg41Trp)
|
rs104894672
|
0.00001
|
NM_001330691.3(CEP78):c.1424del (p.Val475fs)
|
rs1196886096
|
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_006017.3(PROM1):c.1157T>A (p.Leu386Ter)
|
rs886037880
|
0.00001
|
NM_006017.3(PROM1):c.1984-1G>T
|
rs373680665
|
0.00001
|
NM_015072.5(TTLL5):c.211C>T (p.Arg71Ter)
|
rs1439202144
|
0.00001
|
NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln)
|
rs751644763
|
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_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
NC_000012.12:g.1839550_1875411del
|
|
|
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)
|
rs61750173
|
|
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_000350.3(ABCA4):c.346_347del (p.Ala116fs)
|
rs1662507319
|
|
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.4269C>T (p.Gly1423=)
|
rs778456901
|
|
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4540-2A>G
|
rs61752435
|
|
NM_000350.3(ABCA4):c.4720G>T (p.Glu1574Ter)
|
rs1282472315
|
|
NM_000350.3(ABCA4):c.4895dup (p.Asn1632fs)
|
rs1571257937
|
|
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)
|
rs62646872
|
|
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)
|
rs61751389
|
|
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn)
|
rs1571242070
|
|
NM_000350.3(ABCA4):c.639del (p.Phe213fs)
|
rs1662213462
|
|
NM_001017979.3(RAB28):c.409C>T (p.Arg137Ter)
|
rs398123044
|
|
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.3178_3179del (p.Glu1060fs)
|
rs771214648
|
|
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.4471C>T (p.Arg1491Ter)
|
rs782581701
|
|
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)
|
rs1557110499
|
|
NM_001330691.3(CEP78):c.1400_1402delinsCTTT (p.Leu467fs)
|
rs1827340429
|
|
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter)
|
rs1426009756
|
|
NM_001384910.1(GUCA1A):c.299A>G (p.Asp100Gly)
|
rs1768016995
|
|
NM_001384910.1(GUCA1A):c.443A>C (p.Asp148Ala)
|
rs1554186472
|
|
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.17_18del (p.Arg6fs)
|
|
|
NM_003816.3(ADAM9):c.411-8A>G
|
rs786205086
|
|
NM_006017.3(PROM1):c.1578+1G>A
|
rs1553901823
|
|
NM_006017.3(PROM1):c.2211+1G>A
|
rs1719285721
|
|
NM_006017.3(PROM1):c.2281-20_2281-11del
|
rs886037881
|
|
NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter)
|
rs368213921
|
|
NM_006017.3(PROM1):c.869del (p.Ser290fs)
|
rs1355802816
|
|
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del)
|
rs1556313414
|
|
NM_014249.4(NR2E3):c.724_725del (p.Ser242fs)
|
rs750740765
|
|
NM_015072.5(TTLL5):c.1586_1589del (p.Glu529fs)
|
rs587777469
|
|
NM_015072.5(TTLL5):c.741-1G>A
|
rs1887576038
|
|
NM_016247.4(IMPG2):c.829-2A>T
|
|
|
NM_020366.4(RPGRIP1):c.1612-3C>A
|
rs1594204748
|
|
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)
|
rs1420750126
|
|
NM_020366.4(RPGRIP1):c.906+2T>G
|
rs1594180201
|
|
NM_022787.3(NMNAT1):c.[53A>G];[769G>A]
|
|
|
NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter)
|
rs1589306127
|
|
NM_033100.4(CDHR1):c.1485+2T>G
|
rs767366723
|
|
NM_153638.2(PANK2):c.(?_-6)_(1662+1_1663-1)del
|
|
|
NM_172240.3(POC1B):c.560+2T>G
|
rs1882924778
|
|
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
|
|