NM_019040.5(ELP4):c.*3208C>T
|
rs608293
|
0.88020
|
NM_019040.5(ELP4):c.*3514_*3517dup
|
rs397795797
|
0.87931
|
NM_019040.5(ELP4):c.*5226T>A
|
rs1506
|
0.72043
|
NM_019040.5(ELP4):c.*2452C>T
|
rs3026401
|
0.70691
|
NM_019040.5(ELP4):c.*4250C>T
|
rs12421026
|
0.42881
|
NM_019040.5(ELP4):c.*3703G>A
|
rs3026398
|
0.22983
|
NM_019040.5(ELP4):c.*3998C>T
|
rs662702
|
0.14929
|
NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
NM_019040.5(ELP4):c.*2114C>G
|
rs16922475
|
0.05615
|
NM_019040.5(ELP4):c.*3509A>G
|
rs542906080
|
0.04927
|
NM_019040.5(ELP4):c.*2673_*2674del
|
rs141022497
|
0.02792
|
NM_001368894.2(PAX6):c.-129+9G>A
|
rs56139994
|
0.02711
|
NM_019040.5(ELP4):c.*4105C>T
|
rs73477656
|
0.02650
|
NM_001368894.2(PAX6):c.*842G>A
|
rs115045926
|
0.01172
|
NM_001368894.2(PAX6):c.369G>A (p.Glu123=)
|
rs114384476
|
0.01168
|
NM_001368894.2(PAX6):c.*356T>A
|
rs774392481
|
0.00945
|
NM_019040.5(ELP4):c.*3851C>T
|
rs141344418
|
0.00935
|
NM_019040.5(ELP4):c.*3994C>A
|
rs79739975
|
0.00857
|
NM_019040.5(ELP4):c.*3425C>T
|
rs3026399
|
0.00813
|
NM_001368894.2(PAX6):c.*417C>T
|
rs55756603
|
0.00810
|
NM_001368894.2(PAX6):c.-180A>G
|
rs75563367
|
0.00766
|
NM_019040.5(ELP4):c.*4172A>C
|
rs73477658
|
0.00701
|
NM_019040.5(ELP4):c.*2740G>A
|
rs149777109
|
0.00394
|
NM_019040.5(ELP4):c.*3242G>A
|
rs187705792
|
0.00303
|
NM_019040.5(ELP4):c.*3713A>T
|
rs138881442
|
0.00236
|
NM_019040.5(ELP4):c.*5347T>C
|
rs117590302
|
0.00220
|
NM_019040.5(ELP4):c.*4932G>A
|
rs181818313
|
0.00198
|
NM_019040.5(ELP4):c.*2040G>C
|
rs183115097
|
0.00194
|
NM_001368894.2(PAX6):c.*357A>T
|
rs774473337
|
0.00189
|
NM_019040.5(ELP4):c.*3904G>A
|
rs3026397
|
0.00189
|
NM_019040.5(ELP4):c.*4974C>T
|
rs138035131
|
0.00148
|
NM_019040.5(ELP4):c.*1302T>C
|
rs146579778
|
0.00120
|
NM_001368894.2(PAX6):c.-107C>T
|
rs111270711
|
0.00117
|
NM_019040.5(ELP4):c.*2525C>A
|
rs183433948
|
0.00096
|
NM_019040.5(ELP4):c.*2982G>A
|
rs191399467
|
0.00076
|
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)
|
rs149053004
|
0.00075
|
NM_001368894.2(PAX6):c.*891G>A
|
rs530259403
|
0.00065
|
NM_019040.5(ELP4):c.*3528A>G
|
rs143185259
|
0.00060
|
NM_019040.5(ELP4):c.*3523del
|
rs886048188
|
0.00050
|
NM_019040.5(ELP4):c.*2716T>C
|
rs549835579
|
0.00041
|
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
|
rs143477661
|
0.00038
|
NM_001368894.2(PAX6):c.753G>A (p.Val251=)
|
rs145329506
|
0.00038
|
NM_001368894.2(PAX6):c.*841C>T
|
rs530931929
|
0.00031
|
NM_019040.5(ELP4):c.*5016T>G
|
rs776894983
|
0.00031
|
NM_019040.5(ELP4):c.*1783T>G
|
rs140971065
|
0.00030
|
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)
|
rs373147550
|
0.00024
|
NM_019040.5(ELP4):c.*4571A>G
|
rs1029065786
|
0.00024
|
NM_001368894.2(PAX6):c.*335T>C
|
rs766518284
|
0.00020
|
NM_019040.5(ELP4):c.*2387C>T
|
rs990066045
|
0.00020
|
NM_019040.5(ELP4):c.*3433G>T
|
rs192709453
|
0.00019
|
NM_019040.5(ELP4):c.*3383C>T
|
rs541022955
|
0.00017
|
NM_019040.5(ELP4):c.*4323G>T
|
rs923696320
|
0.00011
|
NM_019040.5(ELP4):c.*4806T>A
|
rs189545730
|
0.00011
|
NM_019040.5(ELP4):c.*2845T>C
|
rs1006923180
|
0.00008
|
NM_019040.5(ELP4):c.*5123T>A
|
rs576321279
|
0.00008
|
NM_019040.5(ELP4):c.*2502G>A
|
rs886048185
|
0.00007
|
NM_001368894.2(PAX6):c.*90A>C
|
rs572377074
|
0.00006
|
NM_001368894.2(PAX6):c.-368G>A
|
rs886048206
|
0.00006
|
NM_019040.5(ELP4):c.*3092T>C
|
rs371438311
|
0.00006
|
NM_019040.5(ELP4):c.*4441T>C
|
rs1452069622
|
0.00006
|
NM_019040.5(ELP4):c.*2664G>A
|
rs567720234
|
0.00005
|
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)
|
rs202154006
|
0.00004
|
NM_019040.5(ELP4):c.*3207T>C
|
rs1010978990
|
0.00004
|
NM_019040.5(ELP4):c.*1877A>G
|
rs745626044
|
0.00003
|
NM_019040.5(ELP4):c.*3303G>A
|
rs994285025
|
0.00003
|
NM_019040.5(ELP4):c.*3504T>C
|
rs886048187
|
0.00003
|
NM_019040.5(ELP4):c.*3920C>T
|
rs886048191
|
0.00003
|
NM_001368894.2(PAX6):c.-316-8C>G
|
rs566281941
|
0.00002
|
NM_001368894.2(PAX6):c.-430G>C
|
rs886048207
|
0.00002
|
NM_019040.5(ELP4):c.*1714C>G
|
rs180780893
|
0.00002
|
NM_001368894.2(PAX6):c.*207G>A
|
rs886048199
|
0.00001
|
NM_001368894.2(PAX6):c.*226T>C
|
rs753595935
|
0.00001
|
NM_001368894.2(PAX6):c.*272T>G
|
rs934715799
|
0.00001
|
NM_001368894.2(PAX6):c.*626G>C
|
rs1250874661
|
0.00001
|
NM_001368894.2(PAX6):c.-59G>T
|
rs886048204
|
0.00001
|
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln)
|
rs769095184
|
0.00001
|
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met)
|
rs1159095794
|
0.00001
|
NM_001368894.2(PAX6):c.972A>T (p.Thr324=)
|
rs779631884
|
0.00001
|
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln)
|
rs75572362
|
0.00001
|
NM_019040.5(ELP4):c.*1404G>C
|
rs748381549
|
0.00001
|
NM_019040.5(ELP4):c.*3859G>A
|
rs886048190
|
0.00001
|
NM_019040.5(ELP4):c.*4023C>A
|
rs886048194
|
0.00001
|
NM_019040.5(ELP4):c.*4889G>A
|
rs886048196
|
0.00001
|
NM_019040.5(ELP4):c.*5357A>G
|
rs886048197
|
0.00001
|
NM_019040.5(ELP4):c.*5471T>C
|
rs886048198
|
0.00001
|
NM_001368894.2(PAX6):c.*107G>C
|
rs886048201
|
|
NM_001368894.2(PAX6):c.*183dup
|
rs886048200
|
|
NM_001368894.2(PAX6):c.*247T>A
|
rs1468270124
|
|
NM_001368894.2(PAX6):c.*356del
|
rs200391530
|
|
NM_001368894.2(PAX6):c.-147_-146dup
|
rs886048205
|
|
NM_001368894.2(PAX6):c.-167G>T
|
rs1956928845
|
|
NM_001368894.2(PAX6):c.-501del
|
rs886048208
|
|
NM_001368894.2(PAX6):c.-507T>C
|
rs886048209
|
|
NM_001368894.2(PAX6):c.184-8C>T
|
rs886048203
|
|
NM_001368894.2(PAX6):c.219G>A (p.Arg73=)
|
rs1953969921
|
|
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile)
|
rs371018133
|
|
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser)
|
rs1953501315
|
|
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg)
|
rs886048202
|
|
NM_001368894.2(PAX6):c.690C>T (p.Ser230=)
|
rs373715028
|
|
NM_001368894.2(PAX6):c.81G>A (p.Gln27=)
|
rs1954524676
|
|
NM_001368894.2(PAX6):c.885A>G (p.Thr295=)
|
rs1592415376
|
|
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG
|
rs886048180
|
|
NM_019040.5(ELP4):c.*1615A>C
|
rs1171230486
|
|
NM_019040.5(ELP4):c.*1626G>A
|
rs1269133831
|
|
NM_019040.5(ELP4):c.*1811A>C
|
rs185968715
|
|
NM_019040.5(ELP4):c.*2041C>G
|
rs544117348
|
|
NM_019040.5(ELP4):c.*2049A>G
|
rs886048181
|
|
NM_019040.5(ELP4):c.*2282G>A
|
rs886048182
|
|
NM_019040.5(ELP4):c.*2334T>G
|
rs886048183
|
|
NM_019040.5(ELP4):c.*2407C>A
|
rs886048184
|
|
NM_019040.5(ELP4):c.*2522G>T
|
rs1948594512
|
|
NM_019040.5(ELP4):c.*2710CA[2]
|
rs886048186
|
|
NM_019040.5(ELP4):c.*2992G>A
|
rs1948639449
|
|
NM_019040.5(ELP4):c.*3164_*3165insAAAA
|
rs34919147
|
|
NM_019040.5(ELP4):c.*3588A>G
|
rs906435505
|
|
NM_019040.5(ELP4):c.*3703_*3705del
|
rs886048189
|
|
NM_019040.5(ELP4):c.*3706T>A
|
rs1948715280
|
|
NM_019040.5(ELP4):c.*3715T>A
|
rs558836571
|
|
NM_019040.5(ELP4):c.*3772G>C
|
rs865924000
|
|
NM_019040.5(ELP4):c.*3978T>C
|
rs886048192
|
|
NM_019040.5(ELP4):c.*4017A>G
|
rs886048193
|
|
NM_019040.5(ELP4):c.*4025C>G
|
rs886048195
|
|
NM_019040.5(ELP4):c.*4056G>A
|
rs1948752515
|
|
NM_019040.5(ELP4):c.*4251G>A
|
rs3026396
|
|
NM_019040.5(ELP4):c.*4542G>T
|
rs1948792866
|
|