NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_001163435.3(TBCK):c.1897+1G>A
|
rs374319146
|
0.00002
|
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)
|
rs770045008
|
0.00002
|
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)
|
rs767745816
|
0.00002
|
NM_000390.4(CHM):c.1144G>T (p.Glu382Ter)
|
rs786205604
|
0.00001
|
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)
|
rs200923373
|
0.00001
|
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)
|
rs765715798
|
0.00001
|
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg)
|
rs753625117
|
0.00001
|
NM_001353214.3(DYM):c.1282C>T (p.Arg428Ter)
|
rs771414481
|
0.00001
|
NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter)
|
rs753824908
|
0.00001
|
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter)
|
rs762426409
|
0.00001
|
NM_006204.4(PDE6C):c.939+5G>A
|
rs374805348
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)
|
rs766629205
|
0.00001
|
NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter)
|
rs786205493
|
0.00001
|
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter)
|
rs587777420
|
0.00001
|
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter)
|
rs763295314
|
0.00001
|
NM_138422.4(ADAT3):c.430G>A (p.Val144Met)
|
rs730882213
|
0.00001
|
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)
|
rs111033349
|
0.00001
|
NM_000092.5(COL4A4):c.2420del (p.Gly807fs)
|
rs786205640
|
|
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs)
|
rs1555090368
|
|
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr)
|
rs786205579
|
|
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del)
|
rs786205626
|
|
NM_000329.3(RPE65):c.1366del (p.Glu456fs)
|
rs786205444
|
|
NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs)
|
rs793888523
|
|
NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter)
|
rs786205447
|
|
NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer)
|
rs786205445
|
|
NM_000426.4(LAMA2):c.1762del (p.Ala588fs)
|
rs786205654
|
|
NM_000554.6(CRX):c.274G>A (p.Ala92Thr)
|
rs786205521
|
|
NM_000554.6(CRX):c.695del (p.Pro232fs)
|
rs786205630
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
|
NM_001134831.2(AHI1):c.2037-1G>C
|
rs1784918128
|
|
NM_001142800.2(EYS):c.179del (p.Leu60fs)
|
rs786205652
|
|
NM_001197104.2(KMT2A):c.7567_7570del (p.Val2523fs)
|
rs797044565
|
|
NM_001365902.3(NFIX):c.520G>T (p.Glu174Ter)
|
rs786205515
|
|
NM_001378454.1(ALMS1):c.2726C>G (p.Ser909Ter)
|
rs746640196
|
|
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)
|
rs1721483506
|
|
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)
|
rs730882217
|
|
NM_004380.3(CREBBP):c.4890+2T>C
|
rs786205495
|
|
NM_004744.5(LRAT):c.233_242del (p.Leu78fs)
|
rs786205644
|
|
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter)
|
rs151020551
|
|
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs)
|
rs750542962
|
|
NM_006343.3(MERTK):c.1604+2T>G
|
rs786205534
|
|
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter)
|
rs786205535
|
|
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter)
|
rs786205533
|
|
NM_006420.3(ARFGEF2):c.656dup (p.Val220fs)
|
rs730882200
|
|
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs)
|
rs730882237
|
|
NM_006915.3(RP2):c.2T>C (p.Met1Thr)
|
rs797044561
|
|
NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser)
|
rs786205529
|
|
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter)
|
rs786205564
|
|
NM_016373.4(WWOX):c.606-1G>A
|
rs730882215
|
|
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter)
|
rs786205508
|
|
NM_020401.4(NUP107):c.303G>A (p.Met101Ile)
|
rs730882216
|
|
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter)
|
rs786204176
|
|
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs)
|
rs1791765505
|
|
NM_153704.6(TMEM67):c.1413-2A>G
|
rs786205608
|
|
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)
|
rs397514513
|
|
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg)
|
rs786205450
|
|
NM_201253.3(CRB1):c.2330_2336del (p.Pro777fs)
|
rs786205610
|
|
NM_201548.5(CERKL):c.812T>C (p.Ile271Thr)
|
rs786205545
|
|
Single allele
|
rs1555502637
|
|