NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu)
|
rs104893968
|
0.00130
|
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_004183.4(BEST1):c.422G>A (p.Arg141His)
|
rs121918284
|
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_003835.4(RGS9):c.895T>C (p.Trp299Arg)
|
rs121908449
|
0.00019
|
NM_001848.3(COL6A1):c.1741-6G>A
|
rs200334019
|
0.00016
|
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)
|
rs137853137
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)
|
rs62638214
|
0.00011
|
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)
|
rs139185976
|
0.00010
|
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)
|
rs62653011
|
0.00008
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)
|
rs201471607
|
0.00007
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)
|
rs61751402
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter)
|
rs150115958
|
0.00004
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_004183.4(BEST1):c.418C>G (p.Leu140Val)
|
rs267606678
|
0.00003
|
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
|
rs121908175
|
0.00003
|
NM_133497.4(KCNV2):c.357dup (p.Lys120fs)
|
rs1402837406
|
0.00003
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)
|
rs111033273
|
0.00003
|
NM_000350.3(ABCA4):c.885del (p.Leu296fs)
|
rs764759172
|
0.00002
|
NM_000539.3(RHO):c.316G>A (p.Gly106Arg)
|
rs104893773
|
0.00002
|
NM_000539.3(RHO):c.491C>T (p.Ala164Val)
|
rs104893793
|
0.00002
|
NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter)
|
rs201320564
|
0.00002
|
NM_033100.4(CDHR1):c.524dup (p.Asn176fs)
|
rs781781440
|
0.00002
|
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
|
rs61755783
|
0.00001
|
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)
|
rs61751403
|
0.00001
|
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)
|
rs61750571
|
0.00001
|
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
NM_000440.3(PDE6A):c.1054C>T (p.Gln352Ter)
|
rs1581190641
|
0.00001
|
NM_000539.3(RHO):c.50C>T (p.Thr17Met)
|
rs104893769
|
0.00001
|
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter)
|
rs797044676
|
0.00001
|
NM_001256789.3(CACNA1F):c.3853C>T (p.Arg1285Cys)
|
rs1557106557
|
0.00001
|
NM_004183.4(BEST1):c.653G>A (p.Arg218His)
|
rs281865239
|
0.00001
|
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)
|
rs267606676
|
0.00001
|
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)
|
rs121912631
|
0.00001
|
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter)
|
rs745597204
|
0.00001
|
NM_025114.4(CEP290):c.5587-1G>C
|
rs968692633
|
0.00001
|
NM_025150.5(TARS2):c.695+3A>G
|
rs587777594
|
0.00001
|
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)
|
rs121908581
|
0.00001
|
NM_152443.3(RDH12):c.451C>G (p.His151Asp)
|
rs104894475
|
0.00001
|
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)
|
rs1003869920
|
0.00001
|
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
NM_206933.4(USH2A):c.9056-2A>G
|
rs754970095
|
0.00001
|
NC_000023.10:g.100564340_100627836del
|
|
|
NC_000023.10:g.100580141_100619992del
|
|
|
NC_000023.10:g.100582860_100610076del
|
|
|
NC_000023.11:g.101345283_101347393del
|
|
|
NM_000038.6(APC):c.289G>A (p.Gly97Arg)
|
rs2149788254
|
|
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)
|
rs1064794236
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)
|
rs35689081
|
|
NM_000283.4(PDE6B):c.2193+1G>A
|
rs727504075
|
|
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)
|
rs61755793
|
|
NM_000328.2(RPGR):c.*644del
|
rs1601890980
|
|
NM_000328.3(RPGR):c.2405_2406del (p.Pro802fs)
|
rs1601891967
|
|
NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer)
|
rs1601891936
|
|
NM_000350.2:c.(6816+1_6817-1)_(*1_?)del
|
|
|
NM_000350.3(ABCA4):c.2408del (p.Gly803fs)
|
rs1570386206
|
|
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)
|
rs387906385
|
|
NM_000390.4(CHM):c.757C>T (p.Arg253Ter)
|
rs886041178
|
|
NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter)
|
rs1581180469
|
|
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)
|
rs754012367
|
|
NM_000535.7:c.(23+1_24-1)_(988+1_989-1)del
|
|
|
NM_000539.3(RHO):c.403C>T (p.Arg135Trp)
|
rs104893775
|
|
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys)
|
rs104893776
|
|
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)
|
rs775557680
|
|
NM_000539.3(RHO):c.810C>A (p.Ser270Arg)
|
rs768210562
|
|
NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
|
|
|
NM_001034853.2(RPGR):c.248-2A>G
|
rs62638633
|
|
NM_001034853.2(RPGR):c.28+1G>C
|
rs62638627
|
|
NM_001080517.3(SETD5):c.1612C>T (p.Gln538Ter)
|
rs1299627284
|
|
NM_001080517.3(SETD5):c.1967del (p.Ser655_Leu656insTer)
|
rs2125280753
|
|
NM_001080517.3(SETD5):c.2521G>T (p.Glu841Ter)
|
rs2125500010
|
|
NM_001083962.2(TCF4):c.655+1G>A
|
rs587784465
|
|
NM_001098.3(ACO2):c.1776T>A (p.Cys592Ter)
|
rs368044961
|
|
NM_001123385.2(BCOR):c.4328_4329del (p.Thr1443fs)
|
rs2147004911
|
|
NM_001127222.2(CACNA1A):c.2844_2853del (p.Ala951fs)
|
rs1555755977
|
|
NM_001142800.1(EYS):c.(6078+1_6079-1)_(6191+1_6192-1)dup
|
|
|
NM_001142800.1(EYS):c.6079_6191del
|
|
|
NM_001142800.1:c.(2023+1_2024-1)_(3443+1_3444-1)del
|
|
|
NM_001142800.2(EYS):c.232del (p.Cys78fs)
|
rs1468020897
|
|
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)
|
rs761238771
|
|
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs)
|
rs886044304
|
|
NM_001142800.2(EYS):c.6591_6594del (p.Lys2198fs)
|
rs1582221424
|
|
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)
|
rs528919874
|
|
NM_001197104.2(KMT2A):c.7990del (p.Ala2664fs)
|
rs2134395799
|
|
NM_001197104.2(KMT2A):c.9447_9450dup (p.Ser3151fs)
|
rs2134405469
|
|
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)
|
rs202193201
|
|
NM_001297.5(CNGB1):c.2166+1G>A
|
rs1596976316
|
|
NM_001349338.3(FOXP1):c.488del (p.His163fs)
|
rs2107113481
|
|
NM_001349338.3(FOXP1):c.825del (p.Ser276fs)
|
rs2106870085
|
|
NM_001370100.5(ZMYND11):c.1769G>A (p.Trp590Ter)
|
rs2132046225
|
|
NM_001374828.1(ARID1B):c.4552C>T (p.Gln1518Ter)
|
rs1554235541
|
|
NM_001378418.1(TCF20):c.1411C>T (p.Gln471Ter)
|
rs2147217152
|
|
NM_001378418.1(TCF20):c.2748del (p.Met917fs)
|
rs2147209884
|
|
NM_001379403.1(WDR26):c.1822C>T (p.Arg608Ter)
|
rs2102891563
|
|
NM_001399.5(EDA):c.706+1G>C
|
rs886039344
|
|
NM_001830.4(CLCN4):c.112G>T (p.Glu38Ter)
|
rs2147167432
|
|
NM_001845.6(COL4A1):c.3407-2del
|
rs2139159594
|
|
NM_002715.4(PPP2CA):c.576+1G>A
|
rs2149383143
|
|
NM_002816.5(PSMD12):c.1078G>T (p.Glu360Ter)
|
rs2143688328
|
|
NM_002968.3(SALL1):c.1363_1369delinsTGAAACA (p.Ala455_Val457delinsTer)
|
rs2143446286
|
|
NM_003106.4(SOX2):c.764_767dup (p.Ser257fs)
|
rs2108523389
|
|
NM_003482.4(KMT2D):c.3907-2_3907-1del
|
rs2120632541
|
|
NM_003483.6(HMGA2):c.47dup (p.Gln18fs)
|
rs2120807666
|
|
NM_004183.4(BEST1):c.58C>G (p.Leu20Val)
|
rs1591266379
|
|
NM_004183.4(BEST1):c.904G>A (p.Asp302Asn)
|
rs281865262
|
|
NM_004183.4(BEST1):c.905A>C (p.Asp302Ala)
|
rs281865263
|
|
NM_004187.5(KDM5C):c.12dup (p.Ser5fs)
|
rs2146978931
|
|
NM_004287.5(GOSR2):c.319C>T (p.Arg107Ter)
|
rs201616211
|
|
NM_004369.4(COL6A3):c.8481del (p.Leu2828fs)
|
rs2106317762
|
|
NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter)
|
rs2151308835
|
|
NM_004523.4(KIF11):c.2441_2442insTTCTT (p.Glu814fs)
|
rs2135923459
|
|
NM_004560.4(ROR2):c.1184-1G>T
|
rs2118645585
|
|
NM_005199.5(CHRNG):c.814del (p.Gln272fs)
|
rs2106221927
|
|
NM_005321.3(H1-4):c.416_419dup (p.Ala141fs)
|
rs2113826976
|
|
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs)
|
rs527236116
|
|
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)
|
rs137853006
|
|
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)
|
rs121913281
|
|
NM_006269.2(RP1):c.2585C>G (p.Ser862Ter)
|
rs1585563965
|
|
NM_006269.2(RP1):c.2690_2695del (p.Ser897_Lys899delinsTer)
|
rs1585564175
|
|
NM_006343.2:c.(?_-1)_(1144+1_1145-1)del
|
|
|
NM_006915.3(RP2):c.16_18del (p.Ser6del)
|
rs137852284
|
|
NM_006915.3(RP2):c.358C>T (p.Arg120Ter)
|
rs104894927
|
|
NM_006941.4(SOX10):c.1160_1179dup (p.Ser394fs)
|
rs1601878759
|
|
NM_006941.4(SOX10):c.267del (p.Met90fs)
|
rs2145777226
|
|
NM_006941.4(SOX10):c.299_300insA (p.Ser100fs)
|
rs2145777129
|
|
NM_006941.4(SOX10):c.336G>A (p.Met112Ile)
|
rs2145777042
|
|
NM_006941.4(SOX10):c.366_376del (p.Ala123fs)
|
rs2145776991
|
|
NM_012330.4(KAT6B):c.3665-1G>C
|
rs2134232474
|
|
NM_013275.6(ANKRD11):c.1901_1904del (p.Thr634fs)
|
rs2151762177
|
|
NM_013275.6(ANKRD11):c.3693_3697del (p.Asp1231fs)
|
rs2151753736
|
|
NM_013275.6(ANKRD11):c.5447del (p.Pro1816fs)
|
rs2151744307
|
|
NM_013275.6(ANKRD11):c.7470+1G>C
|
rs2151728882
|
|
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro)
|
rs1284009768
|
|
NM_014795.3:c.1439_1440insAlu
|
|
|
NM_015335.5(MED13L):c.3309del (p.Glu1105fs)
|
rs2137307119
|
|
NM_015629.3(PRPF31):c.(238+1_239-1)_(420+1_421-1)dup
|
|
|
NM_015629.4(PRPF31):c.997del (p.Glu333fs)
|
rs1600355502
|
|
NM_016628.5(WAC):c.1503dup (p.Asp502Ter)
|
rs2132853185
|
|
NM_017635.5(KMT5B):c.1530_1534del (p.His512fs)
|
rs2153040748
|
|
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter)
|
rs137853124
|
|
NM_022124.6(CDH23):c.5710_5712+3del
|
rs1589420011
|
|
NM_022893.4(BCL11A):c.3G>A (p.Met1Ile)
|
rs2104801406
|
|
NM_024496.4(IRF2BPL):c.1693C>T (p.Gln565Ter)
|
rs1466417547
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter)
|
rs1429360126
|
|
NM_030632.3(ASXL3):c.3443dup (p.Pro1148_Glu1149insTer)
|
rs2145424341
|
|
NM_031885.5(BBS2):c.1290dup (p.His431fs)
|
rs777420525
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)
|
rs794727197
|
|
NM_057175.5(NAA15):c.2320_2332del (p.Tyr774fs)
|
rs2111009771
|
|
NM_152641.4(ARID2):c.4210dup (p.Gln1404fs)
|
rs2138177931
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_181523.3(PIK3R1):c.1699A>G (p.Lys567Glu)
|
rs1747645807
|
|
NM_206933.2:c.(11711+1_11712-1)_(*1_?)del
|
|
|
NM_206933.4(USH2A):c.5473G>T (p.Glu1825Ter)
|
rs1571941589
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|