NM_000283.4(PDE6B):c.958G>A (p.Val320Ile)
|
rs10902758
|
0.99926
|
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser)
|
rs111784356
|
0.02010
|
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile)
|
rs61755430
|
0.00628
|
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)
|
rs62295357
|
0.00465
|
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)
|
rs148999583
|
0.00372
|
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile)
|
rs143898031
|
0.00328
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln)
|
rs192912733
|
0.00034
|
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter)
|
rs759781200
|
0.00010
|
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)
|
rs62640587
|
0.00005
|
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)
|
rs201493928
|
0.00005
|
NM_006269.2(RP1):c.1625C>G (p.Ser542Ter)
|
rs779334655
|
0.00004
|
NM_001012720.2(RGR):c.700G>A (p.Ala234Thr)
|
rs377043137
|
0.00003
|
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter)
|
rs121918576
|
0.00001
|
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)
|
rs753942596
|
0.00001
|
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter)
|
rs753314164
|
0.00001
|
NM_006269.2(RP1):c.1265dup (p.Ala423fs)
|
rs770659908
|
0.00001
|
NM_000283.4(PDE6B):c.2021+2T>G
|
rs1577301589
|
|
NM_000283.4(PDE6B):c.2395C>T (p.Arg799Ter)
|
rs970990957
|
|
NM_000283.4(PDE6B):c.2442T>A (p.Tyr814Ter)
|
rs1577311264
|
|
NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter)
|
rs1581180469
|
|
NM_000440.3(PDE6A):c.1674C>G (p.Tyr558Ter)
|
rs375659222
|
|
NM_000440.3(PDE6A):c.2064del (p.Lys689fs)
|
rs1581164958
|
|
NM_001012720.2(RGR):c.820del (p.Arg274fs)
|
rs1589337745
|
|
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp)
|
rs1601982532
|
|
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter)
|
rs1601924184
|
|
NM_001034853.2(RPGR):c.2185G>T (p.Glu729Ter)
|
rs1601923813
|
|
NM_001034853.2(RPGR):c.248-2A>G
|
rs62638633
|
|
NM_001034853.2(RPGR):c.2522del (p.Glu841fs)
|
rs1601922202
|
|
NM_001034853.2(RPGR):c.280T>C (p.Cys94Arg)
|
rs1601978925
|
|
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del)
|
rs1356107537
|
|
NM_001034853.2(RPGR):c.310+1_310+2insGGTGCTCAACCT
|
rs1601978817
|
|
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs)
|
rs1601917999
|
|
NM_001034853.2(RPGR):c.310G>T (p.Glu104Ter)
|
rs1601978823
|
|
NM_001034853.2(RPGR):c.389_390del (p.Phe130fs)
|
rs1601974881
|
|
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr)
|
rs1601961064
|
|
NM_001034853.2(RPGR):c.957del (p.Phe319fs)
|
rs1601947074
|
|
NM_001297.5(CNGB1):c.1122-2A>T
|
rs1596997875
|
|
NM_001297.5(CNGB1):c.1958-1G>A
|
rs888090139
|
|
NM_001379270.1(CNGA1):c.546-1G>C
|
rs1037963003
|
|
NM_005802.5(TOPORS):c.2556_2557del (p.Glu852fs)
|
rs527236116
|
|
NM_005802.5(TOPORS):c.2895dup (p.Cys966fs)
|
rs1246790145
|
|
NM_006269.2(RP1):c.1234dup (p.Met412fs)
|
rs760283610
|
|
NM_006269.2(RP1):c.2778T>A (p.Tyr926Ter)
|
rs1585564369
|
|
NM_014014.5(SNRNP200):c.1405A>G (p.Lys469Glu)
|
rs933842186
|
|
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)
|
rs959069360
|
|
NM_014014.5(SNRNP200):c.2183G>T (p.Arg728Leu)
|
rs1477839027
|
|
NM_015629.4(PRPF31):c.165G>A (p.Trp55Ter)
|
rs1439576531
|
|
NM_015629.4(PRPF31):c.322+1G>A
|
rs1600335289
|
|
NM_015629.4(PRPF31):c.335del (p.Lys112fs)
|
rs1600337158
|
|
NM_015629.4(PRPF31):c.3G>A (p.Met1Ile)
|
rs1600324262
|
|
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter)
|
rs764232082
|
|
NM_015629.4(PRPF31):c.856-1G>A
|
rs1600350656
|
|
NM_015629.4(PRPF31):c.89_92del (p.Pro30fs)
|
rs1600324442
|
|
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter)
|
rs1555794205
|
|