NM_144631.6(ZNF513):c.1260C>T (p.Leu420=)
|
rs112828880
|
0.00620
|
NM_013342.4(TFPT):c.-350G>T
|
rs45619231
|
0.00456
|
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)
|
rs62653020
|
0.00366
|
NM_014336.5(AIPL1):c.*53C>T
|
rs151279098
|
0.00200
|
NM_014336.5(AIPL1):c.*1007C>T
|
rs111456528
|
0.00192
|
NM_001387564.1(SMIM27):c.45+129C>T
|
rs187268836
|
0.00185
|
NM_012469.3(PRPF6):c.-147A>C
|
rs553841583
|
0.00172
|
NM_144631.6(ZNF513):c.-91C>T
|
rs530824832
|
0.00169
|
NM_014336.5(AIPL1):c.-17C>A
|
rs188246267
|
0.00132
|
NM_144631.6(ZNF513):c.749G>A (p.Arg250Gln)
|
rs141337532
|
0.00115
|
NM_014336.5(AIPL1):c.780C>T (p.His260=)
|
rs145304845
|
0.00072
|
NM_013342.4(TFPT):c.-330C>T
|
rs587674748
|
0.00071
|
NM_014336.5(AIPL1):c.97-15C>T
|
rs190887679
|
0.00051
|
NM_014748.4(SNX17):c.*697C>T
|
rs560324766
|
0.00051
|
NM_014336.4(AIPL1):c.-52G>T
|
rs377376064
|
0.00048
|
NM_014336.5(AIPL1):c.*150A>C
|
rs886053266
|
0.00046
|
NM_014748.4(SNX17):c.*692T>C
|
rs754539683
|
0.00028
|
NM_006445.4(PRPF8):c.1253C>G (p.Thr418Ser)
|
rs142411659
|
0.00024
|
NM_144631.6(ZNF513):c.1568G>A (p.Arg523Gln)
|
rs371030335
|
0.00024
|
NM_014336.5(AIPL1):c.*748C>T
|
rs543789961
|
0.00023
|
NM_000327.3(ROM1):c.-159delA
|
rs879752924
|
0.00021
|
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser)
|
rs138585919
|
0.00021
|
NM_144631.6(ZNF513):c.-24C>A
|
rs780603445
|
0.00019
|
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser)
|
rs139079107
|
0.00017
|
NM_144631.6(ZNF513):c.950G>A (p.Arg317Gln)
|
rs201047611
|
0.00016
|
NM_014336.5(AIPL1):c.*1534G>A
|
rs780946014
|
0.00014
|
NM_014336.5(AIPL1):c.*153del
|
rs886053264
|
0.00013
|
NM_144631.6(ZNF513):c.-48G>C
|
rs563171952
|
0.00012
|
NM_015629.4(PRPF31):c.*224_*228dup
|
rs587763567
|
0.00011
|
NM_014336.5(AIPL1):c.*23C>G
|
rs369568105
|
0.00010
|
NM_014014.4(SNRNP200):c.-114T>C
|
rs368747373
|
0.00008
|
NM_014336.4(AIPL1):c.-73A>G
|
rs751249166
|
0.00008
|
NM_014336.5(AIPL1):c.*280G>A
|
rs886053261
|
0.00007
|
NM_144631.6(ZNF513):c.-51C>T
|
rs770982327
|
0.00007
|
NM_144631.6(ZNF513):c.619C>T (p.Arg207Cys)
|
rs140620118
|
0.00007
|
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val)
|
rs772911646
|
0.00005
|
NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg)
|
rs267607182
|
0.00005
|
NM_144631.6(ZNF513):c.740G>A (p.Arg247Gln)
|
rs139008988
|
0.00004
|
NM_004698.3(PRPF3):c.-139G>A
|
rs868986702
|
0.00003
|
NM_014336.5(AIPL1):c.785-11G>A
|
rs199772097
|
0.00003
|
NM_001387564.1(SMIM27):c.45+148A>G
|
rs886063856
|
0.00002
|
NM_014336.4(AIPL1):c.-21A>G
|
rs373772674
|
0.00002
|
NM_000322.4(PRPH2):c.-282G>A
|
rs886061408
|
0.00001
|
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly)
|
rs767471467
|
0.00001
|
NM_000717.5(CA4):c.449C>T (p.Ser150Leu)
|
rs867271887
|
0.00001
|
NM_002098.6(GUCA1B):c.*219_*220del
|
rs779998898
|
0.00001
|
NM_014336.5(AIPL1):c.359C>T (p.Thr120Met)
|
rs144579083
|
0.00001
|
NM_014336.5(AIPL1):c.639C>T (p.Thr213=)
|
rs371485219
|
0.00001
|
NM_144631.6(ZNF513):c.-125G>T
|
rs886055909
|
0.00001
|
NM_144631.6(ZNF513):c.322C>A (p.Pro108Thr)
|
rs374110410
|
0.00001
|
NM_000322.5(PRPH2):c.*468_*469del
|
rs886061401
|
|
NM_000322.5(PRPH2):c.*483_*484dup
|
rs55851577
|
|
NM_000327.3(ROM1):c.-478delG
|
rs886048436
|
|
NM_000554.6(CRX):c.*1621_*1623dup
|
rs59559801
|
|
NM_000554.6(CRX):c.*435del
|
rs886054551
|
|
NM_000554.6(CRX):c.*754_*756dup
|
rs60558029
|
|
NM_000554.6(CRX):c.*756dup
|
rs60558029
|
|
NM_001031710.3(KLHL7):c.443-10_443-9del
|
rs774048435
|
|
NM_001354768.3(NRL):c.*283del
|
rs200281199
|
|
NM_004698.3(PRPF3):c.-118T>C
|
rs886045259
|
|
NM_004698.3(PRPF3):c.-149_-147CGG[4]
|
rs886045257
|
|
NM_004698.4(PRPF3):c.*145_*151del
|
rs886045264
|
|
NM_005802.5(TOPORS):c.*139dup
|
rs140010425
|
|
NM_005802.5(TOPORS):c.*647dup
|
rs886063850
|
|
NM_005802.5(TOPORS):c.264A>G (p.Lys88=)
|
rs886063855
|
|
NM_006269.2(RP1):c.*179_*181del
|
rs140712625
|
|
NM_006269.2(RP1):c.*261dup
|
rs10654889
|
|
NM_006445.4(PRPF8):c.2182-6dup
|
rs779420760
|
|
NM_006445.4(PRPF8):c.645C>T (p.Asp215=)
|
rs758699232
|
|
NM_012469.4(PRPF6):c.1770-11_1770-10del
|
rs886056962
|
|
NM_014336.5(AIPL1):c.*1398G>A
|
rs886053259
|
|
NM_014336.5(AIPL1):c.*150_*151insCAA
|
rs200523461
|
|
NM_014336.5(AIPL1):c.*151_*152dup
|
rs77115868
|
|
NM_014336.5(AIPL1):c.*1537C>A
|
rs886053255
|
|
NM_014336.5(AIPL1):c.*153_*154del
|
rs886053263
|
|
NM_014336.5(AIPL1):c.*153_*155del
|
rs886053262
|
|
NM_014336.5(AIPL1):c.*1550A>C
|
rs181055698
|
|
NM_014336.5(AIPL1):c.*730dup
|
rs559951043
|
|
NM_014336.5(AIPL1):c.*887CAAAA[2]
|
rs375369909
|
|
NM_014748.4(SNX17):c.*554_*558del
|
rs886055906
|
|
NM_015629.3(PRPF31):c.-113G>C
|
rs17526361
|
|
NM_015629.3(PRPF31):c.-127G>A
|
rs587601857
|
|
NM_144631.5(ZNF513):c.-213G>A
|
rs886055911
|
|
NM_144631.6(ZNF513):c.-103G>A
|
rs552236644
|
|
NM_144631.6(ZNF513):c.-203dup
|
rs886055910
|
|
NM_144631.6(ZNF513):c.536_537insGC (p.Cys180fs)
|
rs1558312832
|
|
NM_144631.6(ZNF513):c.556G>A (p.Ala186Thr)
|
rs886055908
|
|
NM_144631.6(ZNF513):c.605G>T (p.Gly202Val)
|
rs886055907
|
|
NM_174878.3(CLRN1):c.*265AT[5]
|
rs550716419
|
|
NM_174878.3(CLRN1):c.*277GT[11]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*277GT[12]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*277GT[15]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*277GT[16]
|
rs34027634
|
|