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_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_019040.5(ELP4):c.*4105C>T
|
rs73477656
|
0.02650
|
NM_001368894.2(PAX6):c.*842G>A
|
rs115045926
|
0.01172
|
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_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_019040.5(ELP4):c.*2525C>A
|
rs183433948
|
0.00096
|
NM_019040.5(ELP4):c.*2982G>A
|
rs191399467
|
0.00076
|
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_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.*335T>C
|
rs766518284
|
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.*4806T>A
|
rs189545730
|
0.00011
|
NM_019040.5(ELP4):c.*5123T>A
|
rs576321279
|
0.00008
|
NM_019040.5(ELP4):c.*2502G>A
|
rs886048185
|
0.00007
|
NM_019040.5(ELP4):c.*3092T>C
|
rs371438311
|
0.00006
|
NM_019040.5(ELP4):c.*2664G>A
|
rs567720234
|
0.00005
|
NM_019040.5(ELP4):c.*1877A>G
|
rs745626044
|
0.00003
|
NM_019040.5(ELP4):c.*3504T>C
|
rs886048187
|
0.00003
|
NM_019040.5(ELP4):c.*3920C>T
|
rs886048191
|
0.00003
|
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_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
|
GRCh37/hg19 11p13(chr11:31541617-31813509)
|
|
|
NM_001368894.2(PAX6):c.*107G>C
|
rs886048201
|
|
NM_001368894.2(PAX6):c.*183dup
|
rs886048200
|
|
NM_001368894.2(PAX6):c.*356del
|
rs200391530
|
|
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)
|
rs121907922
|
|
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG
|
rs886048180
|
|
NM_019040.5(ELP4):c.*1811A>C
|
rs185968715
|
|
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.*2710CA[2]
|
rs886048186
|
|
NM_019040.5(ELP4):c.*3164_*3165insAAAA
|
rs34919147
|
|
NM_019040.5(ELP4):c.*3703_*3705del
|
rs886048189
|
|
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.*4251G>A
|
rs3026396
|
|