NM_000275.3(OCA2):c.1636+78T>C
|
rs4778218
|
0.87279
|
NM_000275.3(OCA2):c.2244+25C>G
|
rs7175046
|
0.78077
|
NM_000275.3(OCA2):c.1183-4A>G
|
rs10852218
|
0.71746
|
NM_000275.3(OCA2):c.2079+126A>G
|
rs2594928
|
0.63402
|
NM_000275.3(OCA2):c.1785-47A>G
|
rs7170989
|
0.60954
|
NM_000275.3(OCA2):c.1951+109A>G
|
rs7173419
|
0.60106
|
NM_000275.3(OCA2):c.1065G>A (p.Ala355=)
|
rs1800404
|
0.59023
|
NM_000275.3(OCA2):c.1551C>T (p.Cys517=)
|
rs1800411
|
0.54427
|
NM_000275.3(OCA2):c.1784+161C>T
|
rs11638265
|
0.51661
|
NM_000275.3(OCA2):c.1365-15C>T
|
rs12910433
|
0.51222
|
NM_000275.3(OCA2):c.1785-293C>T
|
rs9920172
|
0.50954
|
NM_000275.3(OCA2):c.1364+113G>A
|
rs1900758
|
0.49607
|
NM_000275.3(OCA2):c.2328T>C (p.Ala776=)
|
rs1800419
|
0.47440
|
NM_000275.3(OCA2):c.1952-209_1952-208insA
|
rs71414521
|
0.40655
|
NM_000275.3(OCA2):c.2338+179A>G
|
rs8030800
|
0.35599
|
NM_000275.3(OCA2):c.2338+75T>C
|
rs8025804
|
0.35589
|
NM_000275.3(OCA2):c.2244+127G>A
|
rs12594397
|
0.34397
|
NM_000275.3(OCA2):c.2079+145T>C
|
rs3751651
|
0.22696
|
NM_000275.3(OCA2):c.2338+207C>T
|
rs1874841
|
0.22349
|
NM_000275.3(OCA2):c.1364+26A>G
|
rs1800410
|
0.20403
|
NM_000275.3(OCA2):c.2364G>A (p.Ser788=)
|
rs12592307
|
0.19938
|
NM_000275.3(OCA2):c.2432+183G>A
|
rs12592271
|
0.19894
|
NM_000275.3(OCA2):c.1952-270A>T
|
rs12440216
|
0.18081
|
NM_000275.3(OCA2):c.1842+262G>A
|
rs728404
|
0.14255
|
NM_000275.3(OCA2):c.1784+109G>T
|
rs12439067
|
0.11834
|
NM_000275.3(OCA2):c.2245-221C>T
|
rs13313425
|
0.11508
|
NM_000275.3(OCA2):c.326+231C>G
|
rs7169513
|
0.10520
|
NM_000275.3(OCA2):c.573+149G>A
|
rs28546555
|
0.10500
|
NM_000275.3(OCA2):c.326+210A>G
|
rs972335
|
0.10362
|
NM_000275.3(OCA2):c.1044+59T>C
|
rs4640131
|
0.10238
|
NM_000275.3(OCA2):c.2339-128C>T
|
rs74005248
|
0.09847
|
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp)
|
rs1800401
|
0.07659
|
NM_000275.3(OCA2):c.2244+299G>C
|
rs116180585
|
0.07571
|
NM_000275.3(OCA2):c.2244+259del
|
rs141015379
|
0.07570
|
NM_000275.3(OCA2):c.891-234G>A
|
rs12438490
|
0.07200
|
NM_000275.3(OCA2):c.1117-300A>G
|
rs16950699
|
0.06690
|
NM_000275.3(OCA2):c.326+151C>T
|
rs972334
|
0.06244
|
NM_000275.3(OCA2):c.1951+45G>C
|
rs17566952
|
0.05987
|
NM_000275.3(OCA2):c.327-145A>G
|
rs2290100
|
0.05618
|
NM_000275.3(OCA2):c.2058A>C (p.Ala686=)
|
rs1800416
|
0.05476
|
NM_000275.3(OCA2):c.-21-129G>A
|
rs56082644
|
0.05421
|
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln)
|
rs1800407
|
0.04917
|
NM_000275.3(OCA2):c.1784+71G>A
|
rs41276934
|
0.04722
|
NM_000275.3(OCA2):c.2140-183A>G
|
rs75834462
|
0.04715
|
NM_000275.3(OCA2):c.1784+93G>A
|
rs45495598
|
0.04322
|
NM_000275.3(OCA2):c.2244+18A>G
|
rs41304383
|
0.03776
|
NM_000275.3(OCA2):c.574-39T>C
|
rs41534647
|
0.03216
|
NM_000275.3(OCA2):c.-21-327T>C
|
rs146339372
|
0.01829
|
NM_000275.3(OCA2):c.1952-16A>G
|
rs113151152
|
0.01792
|
NM_000275.3(OCA2):c.2244+279A>G
|
rs74608843
|
0.01696
|
NM_000275.3(OCA2):c.2244+210C>T
|
rs76599941
|
0.01687
|
NM_000275.3(OCA2):c.2140-134C>T
|
rs77074895
|
0.01684
|
NM_000275.3(OCA2):c.2244+163T>C
|
rs41313525
|
0.01684
|
NM_000275.3(OCA2):c.2140-294C>T
|
rs77260304
|
0.01683
|
NM_000275.3(OCA2):c.2165T>C (p.Ile722Thr)
|
rs1800417
|
0.01681
|
NM_000275.3(OCA2):c.2244+198dup
|
rs111703140
|
0.01677
|
NM_000275.3(OCA2):c.2139+106T>C
|
rs113089488
|
0.01676
|
NM_000275.3(OCA2):c.2139+22A>T
|
rs112277343
|
0.01676
|
NM_000275.3(OCA2):c.2139+111A>G
|
rs113666932
|
0.01675
|
NM_000275.3(OCA2):c.1113C>T (p.Gly371=)
|
rs1800405
|
0.01593
|
NM_000275.3(OCA2):c.1844A>G (p.His615Arg)
|
rs1800414
|
0.01432
|
NM_000275.3(OCA2):c.1887G>T (p.Val629=)
|
rs1800415
|
0.01098
|
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp)
|
rs33929465
|
0.00876
|
NM_000275.3(OCA2):c.1752C>T (p.His584=)
|
rs151225947
|
0.00803
|
NM_000275.3(OCA2):c.1007C>T (p.Ala336Val)
|
rs34010619
|
0.00755
|
NM_000275.3(OCA2):c.1842+17C>T
|
rs147311864
|
0.00751
|
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)
|
rs74653330
|
0.00630
|
NM_000275.3(OCA2):c.574-19A>G
|
rs145242923
|
0.00618
|
NM_000275.3(OCA2):c.574-18C>T
|
rs149992727
|
0.00559
|
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)
|
rs61738394
|
0.00532
|
NM_000275.3(OCA2):c.2500G>A (p.Val834Met)
|
rs34704703
|
0.00441
|
NM_000275.3(OCA2):c.1679G>A (p.Arg560His)
|
rs35110389
|
0.00395
|
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr)
|
rs34731820
|
0.00369
|
NM_000275.3(OCA2):c.126C>T (p.Ala42=)
|
rs141135991
|
0.00362
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000275.3(OCA2):c.1744C>T (p.Leu582=)
|
rs61751032
|
0.00302
|
NM_000275.3(OCA2):c.365C>T (p.Thr122Ile)
|
rs34385677
|
0.00249
|
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile)
|
rs137956605
|
0.00213
|
NM_000275.3(OCA2):c.1026C>T (p.Tyr342=)
|
rs1800403
|
0.00182
|
NM_000275.3(OCA2):c.1560C>A (p.Leu520=)
|
rs140932222
|
0.00176
|
NM_000275.3(OCA2):c.1374G>A (p.Glu458=)
|
rs141627675
|
0.00174
|
NM_000275.3(OCA2):c.711G>A (p.Val237=)
|
rs144011656
|
0.00116
|
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr)
|
rs145968118
|
0.00115
|
NM_000275.3(OCA2):c.678G>A (p.Thr226=)
|
rs143734809
|
0.00108
|
NM_000275.3(OCA2):c.647-4C>T
|
rs200183522
|
0.00091
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
NM_000275.3(OCA2):c.*1T>C
|
rs138228425
|
0.00081
|
NM_000275.3(OCA2):c.1020C>T (p.Gly340=)
|
rs74695474
|
0.00081
|
NM_000275.3(OCA2):c.1117-17T>C
|
rs200081580
|
0.00078
|
NM_000275.3(OCA2):c.1857C>T (p.Asp619=)
|
rs7164127
|
0.00070
|
NM_000275.3(OCA2):c.970C>T (p.Arg324Cys)
|
rs146795884
|
0.00056
|
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)
|
rs143218168
|
0.00054
|
NM_000275.3(OCA2):c.1365-9T>C
|
rs187271801
|
0.00049
|
NM_000275.3(OCA2):c.954G>A (p.Met318Ile)
|
rs529219961
|
0.00048
|
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp)
|
rs150711896
|
0.00045
|
NM_000275.3(OCA2):c.1336A>G (p.Met446Val)
|
rs140566426
|
0.00044
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00043
|
NM_000275.3(OCA2):c.751G>A (p.Val251Met)
|
rs147432138
|
0.00038
|
NM_000275.3(OCA2):c.963G>A (p.Gln321=)
|
rs140492425
|
0.00033
|
NM_000275.3(OCA2):c.1364+4C>T
|
rs1800409
|
0.00032
|
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)
|
rs371412500
|
0.00032
|
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)
|
rs183487020
|
0.00031
|
NM_000275.3(OCA2):c.1527T>C (p.Thr509=)
|
rs145762147
|
0.00030
|
NM_000275.3(OCA2):c.37G>A (p.Gly13Ser)
|
rs201554429
|
0.00029
|
NM_000275.3(OCA2):c.1240-18C>G
|
rs199814614
|
0.00028
|
NM_000275.3(OCA2):c.45G>A (p.Pro15=)
|
rs202091837
|
0.00028
|
NM_000275.3(OCA2):c.144G>A (p.Ser48=)
|
rs374819923
|
0.00026
|
NM_000275.3(OCA2):c.1503+7A>T
|
rs199875420
|
0.00026
|
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)
|
rs142931246
|
0.00025
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00024
|
NM_000275.3(OCA2):c.2061G>A (p.Ala687=)
|
rs138335119
|
0.00024
|
NM_000275.3(OCA2):c.29G>A (p.Arg10Gln)
|
rs199752361
|
0.00024
|
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)
|
rs144812594
|
0.00023
|
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)
|
rs121918167
|
0.00023
|
NM_000275.3(OCA2):c.647-3G>A
|
rs572955525
|
0.00023
|
NM_000275.3(OCA2):c.1717C>T (p.Arg573Cys)
|
rs140556122
|
0.00022
|
NM_000275.3(OCA2):c.1663C>T (p.Arg555Cys)
|
rs141611162
|
0.00021
|
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)
|
rs141949212
|
0.00021
|
NM_000275.3(OCA2):c.69C>T (p.Ser23=)
|
rs138611712
|
0.00021
|
NM_000275.3(OCA2):c.84C>T (p.Leu28=)
|
rs141803386
|
0.00021
|
NM_000275.3(OCA2):c.106C>T (p.Arg36Cys)
|
rs148066812
|
0.00019
|
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met)
|
rs150335311
|
0.00019
|
NM_000275.3(OCA2):c.36C>T (p.Pro12=)
|
rs566842751
|
0.00018
|
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys)
|
rs138065338
|
0.00018
|
NM_000275.3(OCA2):c.1239+5G>C
|
rs757119713
|
0.00016
|
NM_000275.3(OCA2):c.1519G>A (p.Gly507Arg)
|
rs138606284
|
0.00016
|
NM_000275.3(OCA2):c.232C>T (p.His78Tyr)
|
rs531777637
|
0.00016
|
NM_000275.3(OCA2):c.515+10C>G
|
rs776088912
|
0.00015
|
NM_000275.3(OCA2):c.1182+1G>A
|
rs371963034
|
0.00014
|
NM_000275.3(OCA2):c.1297G>A (p.Ala433Thr)
|
rs749410903
|
0.00014
|
NM_000275.3(OCA2):c.1364G>A (p.Arg455Lys)
|
rs139853866
|
0.00014
|
NM_000275.3(OCA2):c.1401C>A (p.Val467=)
|
rs367772807
|
0.00014
|
NM_000275.3(OCA2):c.1688C>T (p.Pro563Leu)
|
rs201904219
|
0.00014
|
NM_000275.3(OCA2):c.1785-17C>T
|
rs368420440
|
0.00014
|
NM_000275.3(OCA2):c.2497G>A (p.Val833Met)
|
rs200396611
|
0.00014
|
NM_000275.3(OCA2):c.48G>A (p.Ala16=)
|
rs371834997
|
0.00014
|
NM_000275.3(OCA2):c.1631T>C (p.Ile544Thr)
|
rs34141095
|
0.00011
|
NM_000275.3(OCA2):c.1785-7C>G
|
rs375281082
|
0.00011
|
NM_000275.3(OCA2):c.1901T>A (p.Ile634Asn)
|
rs200692258
|
0.00011
|
NM_000275.3(OCA2):c.2502G>T (p.Val834=)
|
rs201569748
|
0.00011
|
NM_000275.3(OCA2):c.371A>C (p.Glu124Ala)
|
rs368106059
|
0.00011
|
NM_000275.3(OCA2):c.407G>A (p.Arg136Gln)
|
rs35764631
|
0.00011
|
NM_000275.3(OCA2):c.1047C>T (p.Ile349=)
|
rs767182132
|
0.00010
|
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)
|
rs200764804
|
0.00010
|
NM_000275.3(OCA2):c.600A>T (p.Gln200His)
|
rs139562520
|
0.00010
|
NM_000275.3(OCA2):c.1116+16C>T
|
rs373347079
|
0.00009
|
NM_000275.3(OCA2):c.1479T>G (p.Val493=)
|
rs374434751
|
0.00009
|
NM_000275.3(OCA2):c.1528G>A (p.Ala510Thr)
|
rs201590781
|
0.00009
|
NM_000275.3(OCA2):c.2088A>G (p.Ala696=)
|
rs781379027
|
0.00009
|
NM_000275.3(OCA2):c.2205G>A (p.Ala735=)
|
rs146641083
|
0.00009
|
NM_000275.3(OCA2):c.2245-6C>A
|
rs368772032
|
0.00009
|
NM_000275.3(OCA2):c.2250C>T (p.Pro750=)
|
rs745593965
|
0.00009
|
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)
|
rs765779905
|
0.00009
|
NM_000275.3(OCA2):c.2432+11A>G
|
rs145577954
|
0.00009
|
NM_000275.3(OCA2):c.2433-19A>G
|
rs370954296
|
0.00009
|
NM_000275.3(OCA2):c.972C>T (p.Arg324=)
|
rs368832716
|
0.00009
|
NM_000275.3(OCA2):c.1503+5G>A
|
rs368124046
|
0.00008
|
NM_000275.3(OCA2):c.1678C>T (p.Arg560Cys)
|
rs147905292
|
0.00007
|
NM_000275.3(OCA2):c.2169C>T (p.Ala723=)
|
rs370020051
|
0.00007
|
NM_000275.3(OCA2):c.2297C>T (p.Pro766Leu)
|
rs563235254
|
0.00007
|
NM_000275.3(OCA2):c.688G>T (p.Val230Leu)
|
rs148659233
|
0.00007
|
NM_000275.3(OCA2):c.696G>C (p.Leu232=)
|
rs374539905
|
0.00007
|
NM_000275.3(OCA2):c.1021G>A (p.Val341Ile)
|
rs368159473
|
0.00006
|
NM_000275.3(OCA2):c.1221C>T (p.Phe407=)
|
rs370349105
|
0.00006
|
NM_000275.3(OCA2):c.1262G>A (p.Arg421Gln)
|
rs369322694
|
0.00006
|
NM_000275.3(OCA2):c.1430T>C (p.Ile477Thr)
|
rs148413474
|
0.00006
|
NM_000275.3(OCA2):c.169G>A (p.Gly57Arg)
|
rs372901106
|
0.00006
|
NM_000275.3(OCA2):c.2043C>G (p.Thr681=)
|
rs368126732
|
0.00006
|
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr)
|
rs745803719
|
0.00006
|
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)
|
rs142988897
|
0.00006
|
NM_000275.3(OCA2):c.41C>T (p.Ala14Val)
|
rs763734477
|
0.00006
|
NM_000275.3(OCA2):c.44C>T (p.Pro15Leu)
|
rs201291702
|
0.00006
|
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu)
|
rs190612616
|
0.00006
|
NM_000275.3(OCA2):c.666C>T (p.His222=)
|
rs751309779
|
0.00006
|
NM_000275.3(OCA2):c.797G>A (p.Arg266Gln)
|
rs774460527
|
0.00006
|
NM_000275.3(OCA2):c.914G>A (p.Arg305Gln)
|
rs141603023
|
0.00006
|
NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp)
|
rs372899234
|
0.00005
|
NM_000275.3(OCA2):c.1656C>T (p.His552=)
|
rs777131634
|
0.00005
|
NM_000275.3(OCA2):c.1843C>T (p.His615Tyr)
|
rs755768280
|
0.00005
|
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)
|
rs121918169
|
0.00005
|
NM_000275.3(OCA2):c.2233A>G (p.Thr745Ala)
|
rs150990900
|
0.00005
|
NM_000275.3(OCA2):c.2501T>A (p.Val834Glu)
|
rs759396151
|
0.00005
|
NM_000275.3(OCA2):c.40G>A (p.Ala14Thr)
|
rs368928996
|
0.00005
|
NM_000275.3(OCA2):c.793C>T (p.Arg265Trp)
|
rs750298814
|
0.00005
|
NM_000275.3(OCA2):c.897G>A (p.Thr299=)
|
rs149191701
|
0.00005
|
NM_000275.3(OCA2):c.100G>A (p.Gly34Ser)
|
rs367553582
|
0.00004
|
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)
|
rs757286784
|
0.00004
|
NM_000275.3(OCA2):c.1201T>C (p.Phe401Leu)
|
rs145880356
|
0.00004
|
NM_000275.3(OCA2):c.1234G>A (p.Val412Ile)
|
rs373759416
|
0.00004
|
NM_000275.3(OCA2):c.1273A>G (p.Met425Val)
|
rs201484597
|
0.00004
|
NM_000275.3(OCA2):c.1452C>T (p.Ile484=)
|
rs771155994
|
0.00004
|
NM_000275.3(OCA2):c.1574C>T (p.Pro525Leu)
|
rs754777148
|
0.00004
|
NM_000275.3(OCA2):c.158G>A (p.Arg53Lys)
|
rs1034863880
|
0.00004
|
NM_000275.3(OCA2):c.1647C>T (p.His549=)
|
rs555501953
|
0.00004
|
NM_000275.3(OCA2):c.1698C>T (p.Arg566=)
|
rs752998822
|
0.00004
|
NM_000275.3(OCA2):c.1858G>A (p.Gly620Arg)
|
rs746102630
|
0.00004
|
NM_000275.3(OCA2):c.1870G>A (p.Ala624Thr)
|
rs373739951
|
0.00004
|
NM_000275.3(OCA2):c.1897G>A (p.Val633Ile)
|
rs1372200062
|
0.00004
|
NM_000275.3(OCA2):c.1952-18C>A
|
rs772841937
|
0.00004
|
NM_000275.3(OCA2):c.2245-8C>G
|
rs768263906
|
0.00004
|
NM_000275.3(OCA2):c.2338+1G>T
|
rs770635415
|
0.00004
|
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)
|
rs200457227
|
0.00004
|
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)
|
rs147736385
|
0.00004
|
NM_000275.3(OCA2):c.2378G>A (p.Cys793Tyr)
|
rs1026811783
|
0.00004
|
NM_000275.3(OCA2):c.530_532del (p.Trp177del)
|
rs763726841
|
0.00004
|
NM_000275.3(OCA2):c.85G>A (p.Ala29Thr)
|
rs759291231
|
0.00004
|
NM_000275.3(OCA2):c.891-17G>A
|
rs769320631
|
0.00004
|
NM_000275.3(OCA2):c.896C>T (p.Thr299Met)
|
rs746768883
|
0.00004
|
NM_000275.3(OCA2):c.941T>G (p.Val314Gly)
|
rs762262964
|
0.00004
|
NM_000275.3(OCA2):c.999C>T (p.Ile333=)
|
rs376454436
|
0.00004
|
NM_000275.3(OCA2):c.99C>T (p.Ala33=)
|
rs746473576
|
0.00004
|
NM_000275.3(OCA2):c.1044+5C>T
|
rs372130852
|
0.00003
|
NM_000275.3(OCA2):c.1048G>A (p.Val350Met)
|
rs533478642
|
0.00003
|
NM_000275.3(OCA2):c.1117-20A>G
|
rs749747648
|
0.00003
|
NM_000275.3(OCA2):c.1182+19G>A
|
rs199706303
|
0.00003
|
NM_000275.3(OCA2):c.1240-9T>C
|
rs375750722
|
0.00003
|
NM_000275.3(OCA2):c.1303G>A (p.Val435Ile)
|
rs549399707
|
0.00003
|
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)
|
rs772019064
|
0.00003
|
NM_000275.3(OCA2):c.1364+20C>T
|
rs201312161
|
0.00003
|
NM_000275.3(OCA2):c.1575G>A (p.Pro525=)
|
rs151046206
|
0.00003
|
NM_000275.3(OCA2):c.157del (p.Arg53fs)
|
rs758894409
|
0.00003
|
NM_000275.3(OCA2):c.1756C>T (p.Leu586Phe)
|
rs918693810
|
0.00003
|
NM_000275.3(OCA2):c.1843-15G>A
|
rs766094007
|
0.00003
|
NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs)
|
rs746307353
|
0.00003
|
NM_000275.3(OCA2):c.21C>T (p.Asp7=)
|
rs369625319
|
0.00003
|
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)
|
rs780296175
|
0.00003
|
NM_000275.3(OCA2):c.2245-18T>C
|
rs199716694
|
0.00003
|
NM_000275.3(OCA2):c.2289G>T (p.Leu763=)
|
rs773827519
|
0.00003
|
NM_000275.3(OCA2):c.2358C>T (p.Gly786=)
|
rs144863864
|
0.00003
|
NM_000275.3(OCA2):c.2514T>C (p.Asn838=)
|
rs373301562
|
0.00003
|
NM_000275.3(OCA2):c.498C>T (p.Leu166=)
|
rs371617480
|
0.00003
|
NM_000275.3(OCA2):c.573+3G>A
|
rs751829678
|
0.00003
|
NM_000275.3(OCA2):c.65C>T (p.Thr22Met)
|
rs779114740
|
0.00003
|
NM_000275.3(OCA2):c.1044+2T>C
|
rs1368074390
|
0.00002
|
NM_000275.3(OCA2):c.1118G>T (p.Arg373Ile)
|
rs1444457881
|
0.00002
|
NM_000275.3(OCA2):c.111G>A (p.Arg37=)
|
rs41309258
|
0.00002
|
NM_000275.3(OCA2):c.1222G>A (p.Asp408Asn)
|
rs769550106
|
0.00002
|
NM_000275.3(OCA2):c.1226A>G (p.Tyr409Cys)
|
rs376863406
|
0.00002
|
NM_000275.3(OCA2):c.1281C>T (p.Ile427=)
|
rs772108982
|
0.00002
|
NM_000275.3(OCA2):c.1298C>T (p.Ala433Val)
|
rs780239785
|
0.00002
|
NM_000275.3(OCA2):c.1365-10T>C
|
rs745738408
|
0.00002
|
NM_000275.3(OCA2):c.1399G>A (p.Val467Ile)
|
rs750011165
|
0.00002
|
NM_000275.3(OCA2):c.1699G>A (p.Glu567Lys)
|
rs779086242
|
0.00002
|
NM_000275.3(OCA2):c.1743A>C (p.Ala581=)
|
rs1305428994
|
0.00002
|
NM_000275.3(OCA2):c.1761C>T (p.Ala587=)
|
rs776611244
|
0.00002
|
NM_000275.3(OCA2):c.178T>C (p.Ser60Pro)
|
rs1482513844
|
0.00002
|
NM_000275.3(OCA2):c.1850T>C (p.Ile617Thr)
|
rs775588367
|
0.00002
|
NM_000275.3(OCA2):c.1881G>A (p.Leu627=)
|
rs778416831
|
0.00002
|
NM_000275.3(OCA2):c.2060C>T (p.Ala687Val)
|
rs773980859
|
0.00002
|
NM_000275.3(OCA2):c.2160C>T (p.Arg720=)
|
rs201475699
|
0.00002
|
NM_000275.3(OCA2):c.216C>G (p.Leu72=)
|
rs766072141
|
0.00002
|
NM_000275.3(OCA2):c.2290C>G (p.Pro764Ala)
|
rs772775471
|
0.00002
|
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg)
|
rs797045839
|
0.00002
|
NM_000275.3(OCA2):c.2354T>C (p.Ile785Thr)
|
rs148153776
|
0.00002
|
NM_000275.3(OCA2):c.2432+17T>G
|
rs754383604
|
0.00002
|
NM_000275.3(OCA2):c.257G>C (p.Ser86Thr)
|
rs1024467465
|
0.00002
|
NM_000275.3(OCA2):c.440dup (p.Ser148fs)
|
rs1057518192
|
0.00002
|
NM_000275.3(OCA2):c.540C>T (p.Val180=)
|
rs756163236
|
0.00002
|
NM_000275.3(OCA2):c.565_566del (p.Leu189fs)
|
rs1312967591
|
0.00002
|
NM_000275.3(OCA2):c.648C>T (p.Ser216=)
|
rs886051026
|
0.00002
|
NM_000275.3(OCA2):c.748A>G (p.Ile250Val)
|
rs555796333
|
0.00002
|
NM_000275.3(OCA2):c.794G>A (p.Arg265Gln)
|
rs567007076
|
0.00002
|
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu)
|
rs745573222
|
0.00002
|
NM_000275.3(OCA2):c.965A>G (p.Tyr322Cys)
|
rs573678989
|
0.00002
|
NM_000275.3(OCA2):c.1000G>A (p.Ala334Thr)
|
rs1456118236
|
0.00001
|
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val)
|
rs121918168
|
0.00001
|
NM_000275.3(OCA2):c.1014C>T (p.Leu338=)
|
rs142591701
|
0.00001
|
NM_000275.3(OCA2):c.1016C>T (p.Ala339Val)
|
rs747940330
|
0.00001
|
NM_000275.3(OCA2):c.1044+13C>T
|
rs1013487670
|
0.00001
|
NM_000275.3(OCA2):c.1045-9T>G
|
rs755604671
|
0.00001
|
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val)
|
rs570914443
|
0.00001
|
NM_000275.3(OCA2):c.1080C>T (p.Ser360=)
|
rs373775562
|
0.00001
|
NM_000275.3(OCA2):c.1083T>C (p.Leu361=)
|
rs1164737873
|
0.00001
|
NM_000275.3(OCA2):c.1134T>C (p.His378=)
|
rs752317540
|
0.00001
|
NM_000275.3(OCA2):c.1178G>T (p.Gly393Val)
|
rs749661379
|
0.00001
|
NM_000275.3(OCA2):c.1212G>A (p.Thr404=)
|
rs773802096
|
0.00001
|
NM_000275.3(OCA2):c.1246C>T (p.Arg416Trp)
|
rs756482913
|
0.00001
|
NM_000275.3(OCA2):c.1302C>T (p.Ala434=)
|
rs150020919
|
0.00001
|
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)
|
rs147816326
|
0.00001
|
NM_000275.3(OCA2):c.1326C>T (p.Asn442=)
|
rs886051025
|
0.00001
|
NM_000275.3(OCA2):c.1328T>C (p.Val443Ala)
|
rs1325388159
|
0.00001
|
NM_000275.3(OCA2):c.1364+5G>A
|
rs751956177
|
0.00001
|
NM_000275.3(OCA2):c.1378C>T (p.Leu460Phe)
|
rs748692597
|
0.00001
|
NM_000275.3(OCA2):c.1444A>C (p.Thr482Pro)
|
rs2041233832
|
0.00001
|
NM_000275.3(OCA2):c.1484A>G (p.Asn495Ser)
|
rs531606889
|
0.00001
|
NM_000275.3(OCA2):c.1503+9C>A
|
rs959966239
|
0.00001
|
NM_000275.3(OCA2):c.1504-16C>T
|
rs746616353
|
0.00001
|
NM_000275.3(OCA2):c.1518C>T (p.Ala506=)
|
rs1306441561
|
0.00001
|
NM_000275.3(OCA2):c.1555del (p.Val519fs)
|
rs765235945
|
0.00001
|
NM_000275.3(OCA2):c.1606C>A (p.Leu536Ile)
|
rs1394413927
|
0.00001
|
NM_000275.3(OCA2):c.162G>A (p.Gly54=)
|
rs1391198560
|
0.00001
|
NM_000275.3(OCA2):c.1637-16C>G
|
rs751749354
|
0.00001
|
NM_000275.3(OCA2):c.1637-18G>A
|
rs368865876
|
0.00001
|
NM_000275.3(OCA2):c.1644G>A (p.Lys548=)
|
rs371550945
|
0.00001
|
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg)
|
rs1384042381
|
0.00001
|
NM_000275.3(OCA2):c.1715G>A (p.Arg572His)
|
rs754265614
|
0.00001
|
NM_000275.3(OCA2):c.1718G>A (p.Arg573His)
|
rs761217860
|
0.00001
|
NM_000275.3(OCA2):c.1758C>T (p.Leu586=)
|
rs769393141
|
0.00001
|
NM_000275.3(OCA2):c.1784+15C>T
|
rs1265534138
|
0.00001
|
NM_000275.3(OCA2):c.1784+5C>T
|
rs748230308
|
0.00001
|
NM_000275.3(OCA2):c.180T>C (p.Ser60=)
|
rs757834251
|
0.00001
|
NM_000275.3(OCA2):c.1842+1G>T
|
rs387906240
|
0.00001
|
NM_000275.3(OCA2):c.1864C>T (p.Leu622=)
|
rs543493041
|
0.00001
|
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn)
|
rs1455447337
|
0.00001
|
NM_000275.3(OCA2):c.1891G>A (p.Gly631Arg)
|
rs1555440003
|
0.00001
|
NM_000275.3(OCA2):c.1951+15G>A
|
rs776734962
|
0.00001
|
NM_000275.3(OCA2):c.2035T>C (p.Trp679Arg)
|
rs751822606
|
0.00001
|
NM_000275.3(OCA2):c.2073G>A (p.Leu691=)
|
rs373962635
|
0.00001
|
NM_000275.3(OCA2):c.2079G>A (p.Glu693=)
|
rs1374558186
|
0.00001
|
NM_000275.3(OCA2):c.2095C>A (p.His699Asn)
|
rs150391476
|
0.00001
|
NM_000275.3(OCA2):c.2110G>T (p.Val704Phe)
|
rs758611210
|
0.00001
|
NM_000275.3(OCA2):c.2123C>A (p.Thr708Asn)
|
rs1335779460
|
0.00001
|
NM_000275.3(OCA2):c.2135del (p.Ile712fs)
|
rs775008954
|
0.00001
|
NM_000275.3(OCA2):c.2145C>G (p.Val715=)
|
rs779836224
|
0.00001
|
NM_000275.3(OCA2):c.2154G>C (p.Glu718Asp)
|
rs752419245
|
0.00001
|
NM_000275.3(OCA2):c.2196A>G (p.Ser732=)
|
rs1436386882
|
0.00001
|
NM_000275.3(OCA2):c.2197G>C (p.Ala733Pro)
|
rs1378080763
|
0.00001
|
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg)
|
rs768934658
|
0.00001
|
NM_000275.3(OCA2):c.2245-1G>A
|
rs1344047706
|
0.00001
|
NM_000275.3(OCA2):c.2273A>T (p.Asp758Val)
|
rs752888326
|
0.00001
|
NM_000275.3(OCA2):c.2275C>T (p.Pro759Ser)
|
rs765361091
|
0.00001
|
NM_000275.3(OCA2):c.2292C>T (p.Pro764=)
|
rs748737226
|
0.00001
|
NM_000275.3(OCA2):c.2322C>T (p.Phe774=)
|
rs762388937
|
0.00001
|
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)
|
rs776814755
|
0.00001
|
NM_000275.3(OCA2):c.2331C>T (p.Cys777=)
|
rs1376067968
|
0.00001
|
NM_000275.3(OCA2):c.2361G>A (p.Ala787=)
|
rs763462686
|
0.00001
|
NM_000275.3(OCA2):c.2431A>G (p.Arg811Gly)
|
rs1342026238
|
0.00001
|
NM_000275.3(OCA2):c.2473A>T (p.Met825Leu)
|
rs763881975
|
0.00001
|
NM_000275.3(OCA2):c.2506G>A (p.Gly836Arg)
|
rs770934507
|
0.00001
|
NM_000275.3(OCA2):c.286G>A (p.Glu96Lys)
|
rs372184971
|
0.00001
|
NM_000275.3(OCA2):c.326+13C>T
|
rs2042920037
|
0.00001
|
NM_000275.3(OCA2):c.390C>T (p.Ser130=)
|
rs2042807114
|
0.00001
|
NM_000275.3(OCA2):c.459C>G (p.Ser153=)
|
rs2042803933
|
0.00001
|
NM_000275.3(OCA2):c.500G>A (p.Arg167His)
|
rs151118268
|
0.00001
|
NM_000275.3(OCA2):c.506C>T (p.Ser169Phe)
|
rs1188916762
|
0.00001
|
NM_000275.3(OCA2):c.517C>T (p.Arg173Cys)
|
rs538576672
|
0.00001
|
NM_000275.3(OCA2):c.572C>T (p.Ser191Phe)
|
rs1158730024
|
0.00001
|
NM_000275.3(OCA2):c.573+5G>A
|
rs1432628513
|
0.00001
|
NM_000275.3(OCA2):c.58C>T (p.Leu20=)
|
rs748332005
|
0.00001
|
NM_000275.3(OCA2):c.594G>A (p.Pro198=)
|
rs762764142
|
0.00001
|
NM_000275.3(OCA2):c.598C>G (p.Gln200Glu)
|
rs769681202
|
0.00001
|
NM_000275.3(OCA2):c.631C>G (p.Pro211Ala)
|
rs777893926
|
0.00001
|
NM_000275.3(OCA2):c.637G>A (p.Glu213Lys)
|
rs2042624978
|
0.00001
|
NM_000275.3(OCA2):c.649G>A (p.Val217Met)
|
rs773252077
|
0.00001
|
NM_000275.3(OCA2):c.70G>A (p.Val24Met)
|
rs766829294
|
0.00001
|
NM_000275.3(OCA2):c.723G>A (p.Pro241=)
|
rs771974833
|
0.00001
|
NM_000275.3(OCA2):c.750C>T (p.Ile250=)
|
rs377144100
|
0.00001
|
NM_000275.3(OCA2):c.807+10A>T
|
rs770217869
|
0.00001
|
NM_000275.3(OCA2):c.807+1G>T
|
rs763219039
|
0.00001
|
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly)
|
rs769408559
|
0.00001
|
NM_000275.3(OCA2):c.891-11T>G
|
rs1446145401
|
0.00001
|
NM_000275.3(OCA2):c.938C>A (p.Ala313Asp)
|
rs1030027107
|
0.00001
|
NM_000275.3(OCA2):c.943C>T (p.Pro315Ser)
|
rs201481836
|
0.00001
|
NM_000275.3(OCA2):c.94G>T (p.Val32Leu)
|
rs1321894065
|
0.00001
|
NM_000275.3(OCA2):c.971G>A (p.Arg324His)
|
rs1199627951
|
0.00001
|
GRCh37/hg19 15q12-13.1(chr15:28019085-28334324)x1
|
|
|
GRCh37/hg19 15q12-13.1(chr15:28090172-28262709)x1
|
|
|
GRCh37/hg19 15q13.1(chr15:28118372-28304810)x1
|
|
|
GRCh37/hg19 15q13.1(chr15:28341659-28351299)x1
|
|
|
GRCh37/hg19 15q13.1(chr15:28341659-28353389)x1
|
|
|
NC_000015.10:g.27955214_27955217del
|
rs2140668412
|
|
NC_000015.9:g.(?_28000534)_(28000638_?)dup
|
|
|
NC_000015.9:g.(?_28090085)_(28096641_?)del
|
|
|
NC_000015.9:g.(?_28090085)_(28277329_?)dup
|
|
|
NC_000015.9:g.(?_28171253)_(28171420_?)del
|
|
|
NC_000015.9:g.(?_28171253)_(28171420_?)dup
|
|
|
NC_000015.9:g.(?_28171253)_(28231809_?)del
|
|
|
NC_000015.9:g.(?_28171253)_(28235813_?)del
|
|
|
NC_000015.9:g.(?_28171253)_(28277329_?)del
|
|
|
NC_000015.9:g.(?_28171253)_(28277329_?)dup
|
|
|
NC_000015.9:g.(?_28200284)_(28200381_?)del
|
|
|
NC_000015.9:g.(?_28202714)_(28211988_?)dup
|
|
|
NC_000015.9:g.(?_28211816)_(28211988_?)del
|
|
|
NC_000015.9:g.(?_28211816)_(28235813_?)del
|
|
|
NC_000015.9:g.(?_28211816)_(28277329_?)del
|
|
|
NC_000015.9:g.(?_28228471)_(28228649_?)del
|
|
|
NC_000015.9:g.(?_28228471)_(28228649_?)dup
|
|
|
NC_000015.9:g.(?_28228471)_(28277329_?)dup
|
|
|
NC_000015.9:g.(?_28231713)_(28235813_?)del
|
|
|
NC_000015.9:g.(?_28234727)_(28234832_?)del
|
|
|
NC_000015.9:g.(?_28235702)_(28277329_?)del
|
|
|
NC_000015.9:g.(?_28259902)_(28261352_?)dup
|
|
|
NC_000015.9:g.(?_28263523)_(28263723_?)del
|
|
|
NC_000015.9:g.(?_28269971)_(28270068_?)del
|
|
|
NC_000015.9:g.(?_28326774)_(28327020_?)dup
|
|
|
NM_000275.3(OCA2):c.-21-5C>G
|
rs1333200990
|
|
NM_000275.3(OCA2):c.1002G>A (p.Ala334=)
|
|
|
NM_000275.3(OCA2):c.1003A>G (p.Thr335Ala)
|
|
|
NM_000275.3(OCA2):c.1004C>T (p.Thr335Met)
|
|
|
NM_000275.3(OCA2):c.1005G>A (p.Thr335=)
|
rs763586305
|
|
NM_000275.3(OCA2):c.1005G>T (p.Thr335=)
|
|
|
NM_000275.3(OCA2):c.1015G>A (p.Ala339Thr)
|
rs148468031
|
|
NM_000275.3(OCA2):c.1015G>T (p.Ala339Ser)
|
rs148468031
|
|
NM_000275.3(OCA2):c.1016C>A (p.Ala339Glu)
|
rs747940330
|
|
NM_000275.3(OCA2):c.1017G>A (p.Ala339=)
|
rs939640240
|
|
NM_000275.3(OCA2):c.1017G>C (p.Ala339=)
|
|
|
NM_000275.3(OCA2):c.1027G>C (p.Ala343Pro)
|
|
|
NM_000275.3(OCA2):c.1029G>A (p.Ala343=)
|
|
|
NM_000275.3(OCA2):c.102C>T (p.Gly34=)
|
rs2141897927
|
|
NM_000275.3(OCA2):c.1030C>T (p.Leu344=)
|
|
|
NM_000275.3(OCA2):c.1031T>C (p.Leu344Pro)
|
rs1384647542
|
|
NM_000275.3(OCA2):c.1038A>C (p.Ile346=)
|
|
|
NM_000275.3(OCA2):c.1044+10A>T
|
|
|
NM_000275.3(OCA2):c.1044+13C>A
|
|
|
NM_000275.3(OCA2):c.1044+14C>T
|
|
|
NM_000275.3(OCA2):c.1044+20C>G
|
|
|
NM_000275.3(OCA2):c.1044+20C>T
|
|
|
NM_000275.3(OCA2):c.1045-15T>G
|
rs779461179
|
|
NM_000275.3(OCA2):c.1045-16C>T
|
|
|
NM_000275.3(OCA2):c.1045-18T>C
|
|
|
NM_000275.3(OCA2):c.1045-19T>A
|
|
|
NM_000275.3(OCA2):c.1045-1G>T
|
|
|
NM_000275.3(OCA2):c.1045-2A>G
|
|
|
NM_000275.3(OCA2):c.1045-5del
|
|
|
NM_000275.3(OCA2):c.1045-7T>C
|
rs2141019752
|
|
NM_000275.3(OCA2):c.1050G>T (p.Val350=)
|
rs2141019600
|
|
NM_000275.3(OCA2):c.1056_1062del (p.Thr353fs)
|
rs2041525028
|
|
NM_000275.3(OCA2):c.1059T>C (p.Thr353=)
|
|
|
NM_000275.3(OCA2):c.1064_1065delinsTA (p.Ala355Val)
|
|
|
NM_000275.3(OCA2):c.1068C>T (p.Ala356=)
|
|
|
NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg)
|
rs1555368749
|
|
NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp)
|
rs200398581
|
|
NM_000275.3(OCA2):c.1079C>T (p.Ser360Phe)
|
|
|
NM_000275.3(OCA2):c.107G>A (p.Arg36His)
|
rs143429491
|
|
NM_000275.3(OCA2):c.107G>T (p.Arg36Leu)
|
rs143429491
|
|
NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1])
|
|
|
NM_000275.3(OCA2):c.1086AGCACTGGC[3] (p.Ala368_Val369insAlaLeuAla)
|
|
|
NM_000275.3(OCA2):c.1089A>G (p.Ala363=)
|
|
|
NM_000275.3(OCA2):c.1091del (p.Leu364fs)
|
|
|
NM_000275.3(OCA2):c.1114G>A (p.Asp372Asn)
|
|
|
NM_000275.3(OCA2):c.1116+13A>G
|
|
|
NM_000275.3(OCA2):c.1116+18C>T
|
|
|
NM_000275.3(OCA2):c.1116+2T>C
|
rs748537823
|
|
NM_000275.3(OCA2):c.1116+3A>G
|
|
|
NM_000275.3(OCA2):c.1116+7del
|
rs775758635
|
|
NM_000275.3(OCA2):c.1117-13G>A
|
|
|
NM_000275.3(OCA2):c.1117-14T>C
|
|
|
NM_000275.3(OCA2):c.1117-16T>G
|
|
|
NM_000275.3(OCA2):c.1117-1G>C
|
|
|
NM_000275.3(OCA2):c.1117-5T>C
|
|
|
NM_000275.3(OCA2):c.1117-9T>C
|
|
|
NM_000275.3(OCA2):c.1117-9del
|
|
|
NM_000275.3(OCA2):c.1119A>G (p.Arg373=)
|
|
|
NM_000275.3(OCA2):c.1120C>T (p.Pro374Ser)
|
|
|
NM_000275.3(OCA2):c.1131C>A (p.Thr377=)
|
|
|
NM_000275.3(OCA2):c.1137G>A (p.Val379=)
|
|
|
NM_000275.3(OCA2):c.1138G>A (p.Val380Met)
|
rs41529845
|
|
NM_000275.3(OCA2):c.1138G>C (p.Val380Leu)
|
rs41529845
|
|
NM_000275.3(OCA2):c.1143G>A (p.Glu381=)
|
|
|
NM_000275.3(OCA2):c.1158G>A (p.Glu386=)
|
|
|
NM_000275.3(OCA2):c.1158G>T (p.Glu386Asp)
|
|
|
NM_000275.3(OCA2):c.1161G>A (p.Thr387=)
|
|
|
NM_000275.3(OCA2):c.1161G>C (p.Thr387=)
|
|
|
NM_000275.3(OCA2):c.1163T>C (p.Leu388Pro)
|
|
|
NM_000275.3(OCA2):c.1174T>C (p.Phe392Leu)
|
|
|
NM_000275.3(OCA2):c.1182+15C>T
|
|
|
NM_000275.3(OCA2):c.1182+18C>G
|
rs200890879
|
|
NM_000275.3(OCA2):c.1182+18C>T
|
rs200890879
|
|
NM_000275.3(OCA2):c.1182+276dup
|
rs3214781
|
|
NM_000275.3(OCA2):c.1182+9A>C
|
|
|
NM_000275.3(OCA2):c.1182+9del
|
|
|
NM_000275.3(OCA2):c.1183-10T>C
|
|
|
NM_000275.3(OCA2):c.1183-11T>C
|
|
|
NM_000275.3(OCA2):c.1183-18T>G
|
|
|
NM_000275.3(OCA2):c.1183-19CTT[2]
|
|
|
NM_000275.3(OCA2):c.1183-4_1183-3delinsGC
|
rs2140989991
|
|
NM_000275.3(OCA2):c.1183-5_1183-4inv
|
|
|
NM_000275.3(OCA2):c.1183-6C>A
|
rs2140990063
|
|
NM_000275.3(OCA2):c.1183-6C>T
|
|
|
NM_000275.3(OCA2):c.1183-7C>G
|
|
|
NM_000275.3(OCA2):c.1183-8C>T
|
|
|
NM_000275.3(OCA2):c.1183A>T (p.Met395Leu)
|
rs757286784
|
|
NM_000275.3(OCA2):c.1184T>C (p.Met395Thr)
|
|
|
NM_000275.3(OCA2):c.1205C>T (p.Ser402Leu)
|
|
|
NM_000275.3(OCA2):c.1206A>C (p.Ser402=)
|
|
|
NM_000275.3(OCA2):c.1213G>A (p.Gly405Arg)
|
|
|
NM_000275.3(OCA2):c.1228T>C (p.Cys410Arg)
|
|
|
NM_000275.3(OCA2):c.1228_1231del (p.Cys410fs)
|
|
|
NM_000275.3(OCA2):c.122del (p.Gly41fs)
|
rs1407174563
|
|
NM_000275.3(OCA2):c.1230T>C (p.Cys410=)
|
|
|
NM_000275.3(OCA2):c.1239+14T>G
|
|
|
NM_000275.3(OCA2):c.1239+1G>C
|
|
|
NM_000275.3(OCA2):c.1239+1G>T
|
|
|
NM_000275.3(OCA2):c.1239+2T>A
|
|
|
NM_000275.3(OCA2):c.1239+8T>G
|
|
|
NM_000275.3(OCA2):c.1240-14G>A
|
rs1466579231
|
|
NM_000275.3(OCA2):c.1240-16G>C
|
|
|
NM_000275.3(OCA2):c.1240-17T>C
|
|
|
NM_000275.3(OCA2):c.1240-1G>C
|
|
|
NM_000275.3(OCA2):c.1240-24CT[3]
|
rs756829072
|
|
NM_000275.3(OCA2):c.1240-4C>T
|
|
|
NM_000275.3(OCA2):c.1240-5del
|
|
|
NM_000275.3(OCA2):c.1242A>C (p.Ala414=)
|
rs1595764890
|
|
NM_000275.3(OCA2):c.1247G>A (p.Arg416Gln)
|
|
|
NM_000275.3(OCA2):c.1247G>C (p.Arg416Pro)
|
rs750843354
|
|
NM_000275.3(OCA2):c.1253C>T (p.Ser418Phe)
|
|
|
NM_000275.3(OCA2):c.1255C>G (p.Arg419Gly)
|
|
|
NM_000275.3(OCA2):c.1258_1264del (p.Gly420fs)
|
rs2140980232
|
|
NM_000275.3(OCA2):c.1262_1271del (p.Arg421fs)
|
|
|
NM_000275.3(OCA2):c.1263G>A (p.Arg421=)
|
|
|
NM_000275.3(OCA2):c.1266G>A (p.Val422=)
|
|
|
NM_000275.3(OCA2):c.1267T>C (p.Trp423Arg)
|
|
|
NM_000275.3(OCA2):c.1268G>A (p.Trp423Ter)
|
|
|
NM_000275.3(OCA2):c.1274T>C (p.Met425Thr)
|
|
|
NM_000275.3(OCA2):c.1275_1277del (p.Met425del)
|
rs752510351
|
|
NM_000275.3(OCA2):c.1289G>A (p.Cys430Tyr)
|
rs1189453897
|
|
NM_000275.3(OCA2):c.1296C>T (p.Ile432=)
|
|
|
NM_000275.3(OCA2):c.1306C>G (p.Leu436Val)
|
|
|
NM_000275.3(OCA2):c.1307del (p.Leu436fs)
|
|
|
NM_000275.3(OCA2):c.1317C>T (p.Phe439=)
|
|
|
NM_000275.3(OCA2):c.131del (p.Gly44fs)
|
rs780625433
|
|
NM_000275.3(OCA2):c.1321G>A (p.Asp441Asn)
|
|
|
NM_000275.3(OCA2):c.1323C>T (p.Asp441=)
|
|
|
NM_000275.3(OCA2):c.1324A>G (p.Asn442Asp)
|
rs1595764495
|
|
NM_000275.3(OCA2):c.1324_1326del (p.Asn442del)
|
rs2140979313
|
|
NM_000275.3(OCA2):c.1335C>A (p.Thr445=)
|
rs2140979150
|
|
NM_000275.3(OCA2):c.1335C>T (p.Thr445=)
|
|
|
NM_000275.3(OCA2):c.1346dup (p.Thr450fs)
|
rs2140978976
|
|
NM_000275.3(OCA2):c.1349C>A (p.Thr450Lys)
|
|
|
NM_000275.3(OCA2):c.1350G>A (p.Thr450=)
|
rs368781328
|
|
NM_000275.3(OCA2):c.1354G>C (p.Val452Leu)
|
rs1444988470
|
|
NM_000275.3(OCA2):c.1355T>C (p.Val452Ala)
|
rs2041303370
|
|
NM_000275.3(OCA2):c.1364+16C>T
|
|
|
NM_000275.3(OCA2):c.1364+18G>T
|
rs376492129
|
|
NM_000275.3(OCA2):c.1364+6C>A
|
rs2140978517
|
|
NM_000275.3(OCA2):c.1365-1G>A
|
rs2140965742
|
|
NM_000275.3(OCA2):c.1378C>G (p.Leu460Val)
|
|
|
NM_000275.3(OCA2):c.1379T>C (p.Leu460Pro)
|
|
|
NM_000275.3(OCA2):c.1383C>T (p.Asn461=)
|
|
|
NM_000275.3(OCA2):c.1395_1399del (p.Arg465fs)
|
|
|
NM_000275.3(OCA2):c.1400T>A (p.Val467Asp)
|
rs2140965404
|
|
NM_000275.3(OCA2):c.1404G>C (p.Leu468=)
|
|
|
NM_000275.3(OCA2):c.1418T>A (p.Ile473Asn)
|
|
|
NM_000275.3(OCA2):c.1426A>G (p.Asn476Asp)
|
|
|
NM_000275.3(OCA2):c.1429A>G (p.Ile477Val)
|
rs1050639691
|
|
NM_000275.3(OCA2):c.1434A>G (p.Gly478=)
|
|
|
NM_000275.3(OCA2):c.1438G>C (p.Ala480Pro)
|
rs765246177
|
|
NM_000275.3(OCA2):c.1440T>C (p.Ala480=)
|
|
|
NM_000275.3(OCA2):c.1443C>T (p.Ala481=)
|
|
|
NM_000275.3(OCA2):c.1449C>A (p.Ala483=)
|
|
|
NM_000275.3(OCA2):c.1449C>T (p.Ala483=)
|
|
|
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg)
|
rs747214535
|
|
NM_000275.3(OCA2):c.1454G>T (p.Gly485Val)
|
|
|
NM_000275.3(OCA2):c.1455G>A (p.Gly485=)
|
rs1238112685
|
|
NM_000275.3(OCA2):c.1458C>T (p.Asp486=)
|
rs2140964671
|
|
NM_000275.3(OCA2):c.1465A>T (p.Asn489Tyr)
|
rs121918170
|
|
NM_000275.3(OCA2):c.1482C>T (p.Ser494=)
|
rs2140964421
|
|
NM_000275.3(OCA2):c.1488A>T (p.Gln496His)
|
|
|
NM_000275.3(OCA2):c.1491G>C (p.Glu497Asp)
|
|
|
NM_000275.3(OCA2):c.1501_1502insGC (p.Met501fs)
|
|
|
NM_000275.3(OCA2):c.1503+14T>C
|
|
|
NM_000275.3(OCA2):c.1503+14del
|
rs2041229225
|
|
NM_000275.3(OCA2):c.1503+1G>A
|
|
|
NM_000275.3(OCA2):c.1503+4C>T
|
|
|
NM_000275.3(OCA2):c.1504-13T>C
|
|
|
NM_000275.3(OCA2):c.1504-15C>T
|
|
|
NM_000275.3(OCA2):c.1504-17C>G
|
|
|
NM_000275.3(OCA2):c.1504-18C>T
|
|
|
NM_000275.3(OCA2):c.1504-2A>G
|
rs752460023
|
|
NM_000275.3(OCA2):c.1504-320GTTT[2]
|
rs138719690
|
|
NM_000275.3(OCA2):c.1504-8A>G
|
|
|
NM_000275.3(OCA2):c.1513T>G (p.Phe505Val)
|
|
|
NM_000275.3(OCA2):c.1514T>C (p.Phe505Ser)
|
|
|
NM_000275.3(OCA2):c.1515T>C (p.Phe505=)
|
|
|
NM_000275.3(OCA2):c.1529del (p.Ala510fs)
|
|
|
NM_000275.3(OCA2):c.1530A>G (p.Ala510=)
|
rs2140826113
|
|
NM_000275.3(OCA2):c.1533C>T (p.His511=)
|
|
|
NM_000275.3(OCA2):c.1534A>G (p.Met512Val)
|
rs1439320132
|
|
NM_000275.3(OCA2):c.1536G>A (p.Met512Ile)
|
rs762173959
|
|
NM_000275.3(OCA2):c.1538dup (p.Ile514fs)
|
|
|
NM_000275.3(OCA2):c.153C>T (p.Cys51=)
|
|
|
NM_000275.3(OCA2):c.1541T>C (p.Ile514Thr)
|
|
|
NM_000275.3(OCA2):c.1545G>A (p.Gly515=)
|
|
|
NM_000275.3(OCA2):c.1556T>C (p.Val519Ala)
|
|
|
NM_000275.3(OCA2):c.1558C>T (p.Leu520Phe)
|
|
|
NM_000275.3(OCA2):c.155C>G (p.Pro52Arg)
|
rs200885801
|
|
NM_000275.3(OCA2):c.1563G>C (p.Leu521=)
|
|
|
NM_000275.3(OCA2):c.1568G>A (p.Cys523Tyr)
|
rs778609798
|
|
NM_000275.3(OCA2):c.156C>G (p.Pro52=)
|
|
|
NM_000275.3(OCA2):c.1579C>G (p.Leu527Val)
|
rs2140825012
|
|
NM_000275.3(OCA2):c.157A>G (p.Arg53Gly)
|
|
|
NM_000275.3(OCA2):c.157A>T (p.Arg53Trp)
|
|
|
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)
|
rs779850564
|
|
NM_000275.3(OCA2):c.1584A>G (p.Arg528=)
|
|
|
NM_000275.3(OCA2):c.1592A>G (p.Tyr531Cys)
|
|
|
NM_000275.3(OCA2):c.1599C>T (p.Asn533=)
|
rs1595731896
|
|
NM_000275.3(OCA2):c.1603A>G (p.Lys535Glu)
|
|
|
NM_000275.3(OCA2):c.1611T>G (p.Tyr537Ter)
|
rs2140824287
|
|
NM_000275.3(OCA2):c.1612A>G (p.Asn538Asp)
|
rs1304719929
|
|
NM_000275.3(OCA2):c.1615_1621dup (p.Pro541fs)
|
|
|
NM_000275.3(OCA2):c.1626T>A (p.Ser542Arg)
|
|
|
NM_000275.3(OCA2):c.1629G>A (p.Glu543=)
|
|
|
NM_000275.3(OCA2):c.162G>C (p.Gly54=)
|
|
|
NM_000275.3(OCA2):c.1630A>G (p.Ile544Val)
|
rs1172037395
|
|
NM_000275.3(OCA2):c.1631T>G (p.Ile544Ser)
|
rs34141095
|
|
NM_000275.3(OCA2):c.1633G>A (p.Val545Ile)
|
rs1381951592
|
|
NM_000275.3(OCA2):c.1636+13G>A
|
|
|
NM_000275.3(OCA2):c.1636+17C>T
|
|
|
NM_000275.3(OCA2):c.1636+1G>T
|
|
|
NM_000275.3(OCA2):c.1636+2T>A
|
|
|
NM_000275.3(OCA2):c.1636+2T>G
|
|
|
NM_000275.3(OCA2):c.1636+6T>G
|
rs2140823543
|
|
NM_000275.3(OCA2):c.1636+8C>T
|
|
|
NM_000275.3(OCA2):c.1637-12C>G
|
|
|
NM_000275.3(OCA2):c.1637-13C>T
|
|
|
NM_000275.3(OCA2):c.1637-14T>A
|
|
|
NM_000275.3(OCA2):c.1637-17C>T
|
|
|
NM_000275.3(OCA2):c.1637-19C>T
|
|
|
NM_000275.3(OCA2):c.1637-3C>A
|
|
|
NM_000275.3(OCA2):c.1638A>G (p.Glu546=)
|
|
|
NM_000275.3(OCA2):c.163del (p.Ala55fs)
|
rs1254334474
|
|
NM_000275.3(OCA2):c.163dup (p.Ala55fs)
|
|
|
NM_000275.3(OCA2):c.1650G>A (p.Glu550=)
|
|
|
NM_000275.3(OCA2):c.1659C>T (p.Val553=)
|
|
|
NM_000275.3(OCA2):c.1664G>C (p.Arg555Pro)
|
rs768169106
|
|
NM_000275.3(OCA2):c.1670C>T (p.Thr557Ile)
|
rs775106432
|
|
NM_000275.3(OCA2):c.1677G>A (p.Gln559=)
|
|
|
NM_000275.3(OCA2):c.1679G>T (p.Arg560Leu)
|
rs35110389
|
|
NM_000275.3(OCA2):c.1683C>T (p.Ile561=)
|
|
|
NM_000275.3(OCA2):c.1684A>C (p.Ser562Arg)
|
|
|
NM_000275.3(OCA2):c.168C>T (p.Ala56=)
|
|
|
NM_000275.3(OCA2):c.1697G>A (p.Arg566His)
|
|
|
NM_000275.3(OCA2):c.1705A>C (p.Thr569Pro)
|
rs2140704912
|
|
NM_000275.3(OCA2):c.1712T>C (p.Val571Ala)
|
|
|
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)
|
|
|
NM_000275.3(OCA2):c.1715G>C (p.Arg572Pro)
|
|
|
NM_000275.3(OCA2):c.1723C>T (p.Leu575=)
|
|
|
NM_000275.3(OCA2):c.172C>T (p.Gln58Ter)
|
|
|
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
|
|
|
NM_000275.3(OCA2):c.1741G>A (p.Ala581Thr)
|
rs2140704302
|
|
NM_000275.3(OCA2):c.1743A>T (p.Ala581=)
|
|
|
NM_000275.3(OCA2):c.1745T>C (p.Leu582Pro)
|
|
|
NM_000275.3(OCA2):c.1752C>G (p.His584Gln)
|
|
|
NM_000275.3(OCA2):c.1755G>C (p.Leu585=)
|
|
|
NM_000275.3(OCA2):c.1759G>A (p.Ala587Thr)
|
|
|
NM_000275.3(OCA2):c.1762C>A (p.Arg588=)
|
|
|
NM_000275.3(OCA2):c.1763G>A (p.Arg588Gln)
|
|
|
NM_000275.3(OCA2):c.1765A>T (p.Arg589Trp)
|
rs1251628913
|
|
NM_000275.3(OCA2):c.1768C>T (p.Leu590=)
|
|
|
NM_000275.3(OCA2):c.1773C>T (p.His591=)
|
|
|
NM_000275.3(OCA2):c.1773_1774insT (p.Thr592fs)
|
|
|
NM_000275.3(OCA2):c.1784+10G>A
|
|
|
NM_000275.3(OCA2):c.1784+11G>C
|
|
|
NM_000275.3(OCA2):c.1784+1G>A
|
|
|
NM_000275.3(OCA2):c.1784+3A>C
|
rs772202517
|
|
NM_000275.3(OCA2):c.1784+3A>G
|
|
|
NM_000275.3(OCA2):c.1784+9C>A
|
rs1301086572
|
|
NM_000275.3(OCA2):c.1784+9C>T
|
|
|
NM_000275.3(OCA2):c.1785-14_1785-12del
|
rs776632832
|
|
NM_000275.3(OCA2):c.1785-19C>G
|
|
|
NM_000275.3(OCA2):c.1785-9C>T
|
|
|
NM_000275.3(OCA2):c.1785A>G (p.Arg595=)
|
|
|
NM_000275.3(OCA2):c.1791C>T (p.Ile597=)
|
|
|
NM_000275.3(OCA2):c.1794A>G (p.Ser598=)
|
|
|
NM_000275.3(OCA2):c.1800G>A (p.Glu600=)
|
|
|
NM_000275.3(OCA2):c.1803C>T (p.Asp601=)
|
|
|
NM_000275.3(OCA2):c.1808del (p.Asn603fs)
|
rs1476192724
|
|
NM_000275.3(OCA2):c.1808dup (p.Asn603fs)
|
|
|
NM_000275.3(OCA2):c.1811G>A (p.Trp604Ter)
|
|
|
NM_000275.3(OCA2):c.1821T>C (p.Asn607=)
|
|
|
NM_000275.3(OCA2):c.1828G>T (p.Glu610Ter)
|
|
|
NM_000275.3(OCA2):c.1832T>C (p.Leu611Pro)
|
|
|
NM_000275.3(OCA2):c.1833C>G (p.Leu611=)
|
|
|
NM_000275.3(OCA2):c.1834C>T (p.Gln612Ter)
|
|
|
NM_000275.3(OCA2):c.1836A>G (p.Gln612=)
|
|
|
NM_000275.3(OCA2):c.1841del (p.Lys614fs)
|
|
|
NM_000275.3(OCA2):c.1841dup (p.His615fs)
|
|
|
NM_000275.3(OCA2):c.1842+13C>G
|
|
|
NM_000275.3(OCA2):c.1842+13C>T
|
|
|
NM_000275.3(OCA2):c.1842+2T>C
|
rs1226502822
|
|
NM_000275.3(OCA2):c.1843-18G>A
|
|
|
NM_000275.3(OCA2):c.1843-19T>C
|
|
|
NM_000275.3(OCA2):c.1843-1G>T
|
rs2040042896
|
|
NM_000275.3(OCA2):c.1843-9_1843-6del
|
rs2140620111
|
|
NM_000275.3(OCA2):c.1845T>C (p.His615=)
|
|
|
NM_000275.3(OCA2):c.1846A>G (p.Arg616Gly)
|
|
|
NM_000275.3(OCA2):c.1854T>G (p.Ser618=)
|
|
|
NM_000275.3(OCA2):c.1862T>C (p.Ile621Thr)
|
rs2140619427
|
|
NM_000275.3(OCA2):c.1865T>C (p.Leu622Pro)
|
|
|
NM_000275.3(OCA2):c.1869C>T (p.Leu623=)
|
|
|
NM_000275.3(OCA2):c.1878C>T (p.Cys626=)
|
|
|
NM_000275.3(OCA2):c.1879C>T (p.Leu627=)
|
|
|
NM_000275.3(OCA2):c.1892G>C (p.Gly631Ala)
|
|
|
NM_000275.3(OCA2):c.1897G>T (p.Val633Phe)
|
rs1372200062
|
|
NM_000275.3(OCA2):c.1906A>G (p.Met636Val)
|
|
|
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs)
|
|
|
NM_000275.3(OCA2):c.1914C>T (p.Phe638=)
|
|
|
NM_000275.3(OCA2):c.1917C>G (p.Leu639=)
|
|
|
NM_000275.3(OCA2):c.1919A>G (p.Asn640Ser)
|
|
|
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu)
|
rs868238523
|
|
NM_000275.3(OCA2):c.1923G>A (p.Ser641=)
|
|
|
NM_000275.3(OCA2):c.1929C>T (p.Val643=)
|
|
|
NM_000275.3(OCA2):c.1932T>C (p.Pro644=)
|
|
|
NM_000275.3(OCA2):c.1935C>T (p.Gly645=)
|
|
|
NM_000275.3(OCA2):c.1935dup (p.Ile646fs)
|
|
|
NM_000275.3(OCA2):c.1938T>C (p.Ile646=)
|
|
|
NM_000275.3(OCA2):c.1948C>T (p.Leu650Phe)
|
|
|
NM_000275.3(OCA2):c.1951+19T>C
|
|
|
NM_000275.3(OCA2):c.1951+1G>A
|
|
|
NM_000275.3(OCA2):c.1951+2T>A
|
|
|
NM_000275.3(OCA2):c.1951+2T>C
|
|
|
NM_000275.3(OCA2):c.1952-11C>T
|
|
|
NM_000275.3(OCA2):c.1952-14T>C
|
|
|
NM_000275.3(OCA2):c.1952-16A>C
|
rs113151152
|
|
NM_000275.3(OCA2):c.1952-19T>G
|
|
|
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg)
|
rs886043514
|
|
NM_000275.3(OCA2):c.1965T>C (p.Ile655=)
|
|
|
NM_000275.3(OCA2):c.1970G>T (p.Gly657Val)
|
|
|
NM_000275.3(OCA2):c.1978del (p.Trp660fs)
|
|
|
NM_000275.3(OCA2):c.1979G>A (p.Trp660Ter)
|
rs1429912526
|
|
NM_000275.3(OCA2):c.197A>G (p.Gln66Arg)
|
|
|
NM_000275.3(OCA2):c.1980G>A (p.Trp660Ter)
|
|
|
NM_000275.3(OCA2):c.1980G>T (p.Trp660Cys)
|
rs1567114551
|
|
NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe)
|
rs2140372179
|
|
NM_000275.3(OCA2):c.1985T>A (p.Leu662Gln)
|
rs2140372156
|
|
NM_000275.3(OCA2):c.1992A>C (p.Leu664Phe)
|
|
|
NM_000275.3(OCA2):c.1999A>G (p.Ile667Val)
|
rs779938295
|
|
NM_000275.3(OCA2):c.199del (p.Glu67fs)
|
|
|
NM_000275.3(OCA2):c.2007T>C (p.Asp669=)
|
|
|
NM_000275.3(OCA2):c.2011_2015del (p.Glu671fs)
|
|
|
NM_000275.3(OCA2):c.2018T>A (p.Ile673Asn)
|
|
|
NM_000275.3(OCA2):c.201G>A (p.Glu67=)
|
|
|
NM_000275.3(OCA2):c.2022A>G (p.Leu674=)
|
|
|
NM_000275.3(OCA2):c.2030T>C (p.Val677Ala)
|
rs2140371787
|
|
NM_000275.3(OCA2):c.2031G>A (p.Val677=)
|
rs1245023581
|
|
NM_000275.3(OCA2):c.2043C>A (p.Thr681=)
|
|
|
NM_000275.3(OCA2):c.2043C>T (p.Thr681=)
|
|
|
NM_000275.3(OCA2):c.2049_2050insC (p.Phe684fs)
|
|
|
NM_000275.3(OCA2):c.2051T>G (p.Phe684Cys)
|
|
|
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs)
|
rs1595660890
|
|
NM_000275.3(OCA2):c.2058A>T (p.Ala686=)
|
rs1800416
|
|
NM_000275.3(OCA2):c.2059G>A (p.Ala687Thr)
|
|
|
NM_000275.3(OCA2):c.205G>A (p.Ala69Thr)
|
|
|
NM_000275.3(OCA2):c.2062C>T (p.Leu688Phe)
|
|
|
NM_000275.3(OCA2):c.2064C>T (p.Leu688=)
|
|
|
NM_000275.3(OCA2):c.2069T>C (p.Val690Ala)
|
|
|
NM_000275.3(OCA2):c.2071C>T (p.Leu691=)
|
|
|
NM_000275.3(OCA2):c.2079+11A>G
|
|
|
NM_000275.3(OCA2):c.2079+12G>A
|
|
|
NM_000275.3(OCA2):c.2079+18T>C
|
|
|
NM_000275.3(OCA2):c.2079+1G>A
|
|
|
NM_000275.3(OCA2):c.2079+3A>G
|
rs2140370979
|
|
NM_000275.3(OCA2):c.2079+4A>C
|
rs2140370958
|
|
NM_000275.3(OCA2):c.2079+5G>T
|
rs745930102
|
|
NM_000275.3(OCA2):c.2079+7T>C
|
|
|
NM_000275.3(OCA2):c.2080-11C>T
|
|
|
NM_000275.3(OCA2):c.2080-179G>T
|
rs77925103
|
|
NM_000275.3(OCA2):c.2080-19C>A
|
rs867949945
|
|
NM_000275.3(OCA2):c.2080-1G>A
|
rs1555422232
|
|
NM_000275.3(OCA2):c.2080-4C>G
|
|
|
NM_000275.3(OCA2):c.2082A>T (p.Ala694=)
|
|
|
NM_000275.3(OCA2):c.2087C>T (p.Ala696Val)
|
rs2036594092
|
|
NM_000275.3(OCA2):c.2094C>T (p.Leu698=)
|
|
|
NM_000275.3(OCA2):c.2109T>C (p.Tyr703=)
|
rs2151500428
|
|
NM_000275.3(OCA2):c.2139+13C>G
|
|
|
NM_000275.3(OCA2):c.2139+15A>G
|
|
|
NM_000275.3(OCA2):c.2139+15A>T
|
|
|
NM_000275.3(OCA2):c.2139+16T>C
|
|
|
NM_000275.3(OCA2):c.2139+19T>A
|
|
|
NM_000275.3(OCA2):c.2139+64dup
|
rs372214357
|
|
NM_000275.3(OCA2):c.2139+9A>G
|
rs2151500250
|
|
NM_000275.3(OCA2):c.2140-10C>G
|
|
|
NM_000275.3(OCA2):c.2140-11C>T
|
|
|
NM_000275.3(OCA2):c.2140-15T>C
|
|
|
NM_000275.3(OCA2):c.2140-16A>G
|
|
|
NM_000275.3(OCA2):c.2140-18C>T
|
|
|
NM_000275.3(OCA2):c.2140-19G>T
|
|
|
NM_000275.3(OCA2):c.2140-20T>A
|
|
|
NM_000275.3(OCA2):c.2140-3del
|
|
|
NM_000275.3(OCA2):c.2140-8C>T
|
|
|
NM_000275.3(OCA2):c.2148A>T (p.Pro716=)
|
|
|
NM_000275.3(OCA2):c.2154G>A (p.Glu718=)
|
|
|
NM_000275.3(OCA2):c.2158C>T (p.Arg720Cys)
|
|
|
NM_000275.3(OCA2):c.2159G>A (p.Arg720His)
|
|
|
NM_000275.3(OCA2):c.2172C>T (p.Ala724=)
|
|
|
NM_000275.3(OCA2):c.2177T>C (p.Val726Ala)
|
|
|
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs)
|
rs771620099
|
|
NM_000275.3(OCA2):c.217A>G (p.Thr73Ala)
|
rs2141895947
|
|
NM_000275.3(OCA2):c.2181G>A (p.Leu727=)
|
|
|
NM_000275.3(OCA2):c.2195C>G (p.Ser732Ter)
|
|
|
NM_000275.3(OCA2):c.2208G>A (p.Ser736=)
|
rs1800418
|
|
NM_000275.3(OCA2):c.2208G>T (p.Ser736=)
|
rs1800418
|
|
NM_000275.3(OCA2):c.2211C>A (p.Ser737=)
|
|
|
NM_000275.3(OCA2):c.2211C>T (p.Ser737=)
|
|
|
NM_000275.3(OCA2):c.2214G>C (p.Leu738=)
|
|
|
NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr)
|
|
|
NM_000275.3(OCA2):c.2223C>A (p.Asn741Lys)
|
|
|
NM_000275.3(OCA2):c.2224_2237del (p.Ile742fs)
|
|
|
NM_000275.3(OCA2):c.2226C>G (p.Ile742Met)
|
|
|
NM_000275.3(OCA2):c.2229G>A (p.Pro743=)
|
rs41307118
|
|
NM_000275.3(OCA2):c.2229G>C (p.Pro743=)
|
|
|
NM_000275.3(OCA2):c.2229G>T (p.Pro743=)
|
|
|
NM_000275.3(OCA2):c.2229_2230delinsAA (p.Phe744Ile)
|
|
|
NM_000275.3(OCA2):c.2238T>C (p.Ala746=)
|
|
|
NM_000275.3(OCA2):c.2241C>A (p.Thr747=)
|
|
|
NM_000275.3(OCA2):c.2242A>G (p.Met748Val)
|
|
|
NM_000275.3(OCA2):c.2244+10A>G
|
|
|
NM_000275.3(OCA2):c.2244+15T>A
|
|
|
NM_000275.3(OCA2):c.2244+16C>T
|
|
|
NM_000275.3(OCA2):c.2244+1G>A
|
rs868098120
|
|
NM_000275.3(OCA2):c.2244+334CT[6]
|
rs149989219
|
|
NM_000275.3(OCA2):c.2244+344_2244+345del
|
rs10578897
|
|
NM_000275.3(OCA2):c.2244+5G>A
|
|
|
NM_000275.3(OCA2):c.2245-11T>C
|
rs1185797148
|
|
NM_000275.3(OCA2):c.2245-12C>A
|
|
|
NM_000275.3(OCA2):c.2245-12C>T
|
|
|
NM_000275.3(OCA2):c.2245-16T>C
|
|
|
NM_000275.3(OCA2):c.2245-17G>A
|
|
|
NM_000275.3(OCA2):c.2245-19A>G
|
|
|
NM_000275.3(OCA2):c.2245-6C>G
|
rs368772032
|
|
NM_000275.3(OCA2):c.2245-6C>T
|
rs368772032
|
|
NM_000275.3(OCA2):c.224G>A (p.Gly75Glu)
|
rs2141895899
|
|
NM_000275.3(OCA2):c.2253G>A (p.Val751=)
|
|
|
NM_000275.3(OCA2):c.2255T>C (p.Leu752Pro)
|
|
|
NM_000275.3(OCA2):c.2259G>A (p.Leu753=)
|
|
|
NM_000275.3(OCA2):c.2267G>T (p.Ser756Ile)
|
|
|
NM_000275.3(OCA2):c.226A>T (p.Arg76Trp)
|
|
|
NM_000275.3(OCA2):c.227+13T>C
|
|
|
NM_000275.3(OCA2):c.227+15G>A
|
|
|
NM_000275.3(OCA2):c.227+1G>T
|
|
|
NM_000275.3(OCA2):c.227+1_227+15del
|
rs2044626810
|
|
NM_000275.3(OCA2):c.227+258T>A
|
rs79878851
|
|
NM_000275.3(OCA2):c.2271C>G (p.His757Gln)
|
|
|
NM_000275.3(OCA2):c.2271C>T (p.His757=)
|
rs148894313
|
|
NM_000275.3(OCA2):c.2272G>A (p.Asp758Asn)
|
|
|
NM_000275.3(OCA2):c.2273A>G (p.Asp758Gly)
|
rs752888326
|
|
NM_000275.3(OCA2):c.2278G>A (p.Glu760Lys)
|
|
|
NM_000275.3(OCA2):c.227G>A (p.Arg76Lys)
|
|
|
NM_000275.3(OCA2):c.228-14C>T
|
|
|
NM_000275.3(OCA2):c.228-18C>T
|
|
|
NM_000275.3(OCA2):c.228-2A>G
|
|
|
NM_000275.3(OCA2):c.2280G>A (p.Glu760=)
|
|
|
NM_000275.3(OCA2):c.2282T>C (p.Val761Ala)
|
rs143116542
|
|
NM_000275.3(OCA2):c.2287C>A (p.Leu763Met)
|
rs139837760
|
|
NM_000275.3(OCA2):c.2287C>T (p.Leu763=)
|
|
|
NM_000275.3(OCA2):c.2292C>G (p.Pro764=)
|
|
|
NM_000275.3(OCA2):c.2295A>G (p.Ala765=)
|
|
|
NM_000275.3(OCA2):c.2296C>A (p.Pro766Thr)
|
rs144064082
|
|
NM_000275.3(OCA2):c.2298G>A (p.Pro766=)
|
|
|
NM_000275.3(OCA2):c.2298G>T (p.Pro766=)
|
|
|
NM_000275.3(OCA2):c.22_23dup (p.Arg9fs)
|
|
|
NM_000275.3(OCA2):c.2301G>A (p.Pro767=)
|
|
|
NM_000275.3(OCA2):c.2301G>T (p.Pro767=)
|
rs566250675
|
|
NM_000275.3(OCA2):c.2304C>A (p.Leu768=)
|
|
|
NM_000275.3(OCA2):c.2304C>T (p.Leu768=)
|
|
|
NM_000275.3(OCA2):c.2309A>G (p.Tyr770Cys)
|
|
|
NM_000275.3(OCA2):c.2310T>C (p.Tyr770=)
|
|
|
NM_000275.3(OCA2):c.2311G>T (p.Ala771Ser)
|
|
|
NM_000275.3(OCA2):c.2313C>G (p.Ala771=)
|
|
|
NM_000275.3(OCA2):c.2317del (p.Ala773fs)
|
|
|
NM_000275.3(OCA2):c.2323G>A (p.Gly775Ser)
|
|
|
NM_000275.3(OCA2):c.2323G>C (p.Gly775Arg)
|
rs774822330
|
|
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp)
|
rs987780496
|
|
NM_000275.3(OCA2):c.2335G>A (p.Gly779Arg)
|
rs2151412205
|
|
NM_000275.3(OCA2):c.2336del (p.Gly779fs)
|
rs1261095563
|
|
NM_000275.3(OCA2):c.2338+10T>C
|
|
|
NM_000275.3(OCA2):c.2338+13dup
|
rs1361330740
|
|
NM_000275.3(OCA2):c.2338+14G>T
|
|
|
NM_000275.3(OCA2):c.2338+16C>T
|
|
|
NM_000275.3(OCA2):c.2338+18G>A
|
|
|
NM_000275.3(OCA2):c.2338+18G>C
|
|
|
NM_000275.3(OCA2):c.2338+18G>T
|
|
|
NM_000275.3(OCA2):c.2338+19C>T
|
|
|
NM_000275.3(OCA2):c.2338+1G>A
|
|
|
NM_000275.3(OCA2):c.2338+2T>G
|
rs1064796956
|
|
NM_000275.3(OCA2):c.2338+8G>A
|
|
|
NM_000275.3(OCA2):c.2338+9C>T
|
|
|
NM_000275.3(OCA2):c.2339-3del
|
|
|
NM_000275.3(OCA2):c.2343C>T (p.Asn781=)
|
|
|
NM_000275.3(OCA2):c.2349A>C (p.Thr783=)
|
|
|
NM_000275.3(OCA2):c.2353_2356del (p.Ile785fs)
|
rs781001810
|
|
NM_000275.3(OCA2):c.2355T>C (p.Ile785=)
|
|
|
NM_000275.3(OCA2):c.2361G>C (p.Ala787=)
|
|
|
NM_000275.3(OCA2):c.2370C>T (p.Asn790=)
|
|
|
NM_000275.3(OCA2):c.2370CGT[1] (p.Val792del)
|
|
|
NM_000275.3(OCA2):c.2373C>G (p.Val791=)
|
rs761657884
|
|
NM_000275.3(OCA2):c.2373C>T (p.Val791=)
|
|
|
NM_000275.3(OCA2):c.2376G>A (p.Val792=)
|
|
|
NM_000275.3(OCA2):c.2383G>C (p.Gly795Arg)
|
|
|
NM_000275.3(OCA2):c.2385G>A (p.Gly795=)
|
rs2151380371
|
|
NM_000275.3(OCA2):c.2389G>T (p.Ala797Ser)
|
|
|
NM_000275.3(OCA2):c.2395C>A (p.Gln799Lys)
|
rs781471173
|
|
NM_000275.3(OCA2):c.2401G>T (p.Gly801Ter)
|
|
|
NM_000275.3(OCA2):c.2403A>G (p.Gly801=)
|
rs1170388631
|
|
NM_000275.3(OCA2):c.2404dup (p.Tyr802fs)
|
|
|
NM_000275.3(OCA2):c.2406T>G (p.Tyr802Ter)
|
rs2035478131
|
|
NM_000275.3(OCA2):c.2409G>A (p.Gly803=)
|
|
|
NM_000275.3(OCA2):c.2412C>G (p.Phe804Leu)
|
rs747340554
|
|
NM_000275.3(OCA2):c.2412C>T (p.Phe804=)
|
|
|
NM_000275.3(OCA2):c.2414C>G (p.Ser805Cys)
|
|
|
NM_000275.3(OCA2):c.2424A>G (p.Glu808=)
|
|
|
NM_000275.3(OCA2):c.2425T>C (p.Phe809Leu)
|
rs765779905
|
|
NM_000275.3(OCA2):c.2430C>T (p.Phe810=)
|
|
|
NM_000275.3(OCA2):c.2432+15C>A
|
|
|
NM_000275.3(OCA2):c.2432+178C>T
|
rs113937352
|
|
NM_000275.3(OCA2):c.2432+19del
|
|
|
NM_000275.3(OCA2):c.2432+8T>G
|
|
|
NM_000275.3(OCA2):c.2432+8del
|
rs754774943
|
|
NM_000275.3(OCA2):c.2433-11_2433-10del
|
|
|
NM_000275.3(OCA2):c.2433-14T>G
|
|
|
NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser)
|
|
|
NM_000275.3(OCA2):c.2437G>A (p.Gly813Ser)
|
|
|
NM_000275.3(OCA2):c.2442C>T (p.Phe814=)
|
|
|
NM_000275.3(OCA2):c.2445A>C (p.Pro815=)
|
|
|
NM_000275.3(OCA2):c.2446A>G (p.Met816Val)
|
|
|
NM_000275.3(OCA2):c.2451G>A (p.Met817Ile)
|
|
|
NM_000275.3(OCA2):c.2459C>A (p.Ser820Tyr)
|
|
|
NM_000275.3(OCA2):c.245C>G (p.Pro82Arg)
|
|
|
NM_000275.3(OCA2):c.2464A>C (p.Thr822Pro)
|
|
|
NM_000275.3(OCA2):c.2475G>A (p.Met825Ile)
|
|
|
NM_000275.3(OCA2):c.2477_2478del (p.Cys826fs)
|
|
|
NM_000275.3(OCA2):c.2481T>G (p.Tyr827Ter)
|
|
|
NM_000275.3(OCA2):c.2491G>C (p.Ala831Pro)
|
|
|
NM_000275.3(OCA2):c.2494C>T (p.His832Tyr)
|
rs200918662
|
|
NM_000275.3(OCA2):c.2498TGG[2] (p.Val835del)
|
rs751440917
|
|
NM_000275.3(OCA2):c.2502G>A (p.Val834=)
|
|
|
NM_000275.3(OCA2):c.2503del (p.Val835fs)
|
|
|
NM_000275.3(OCA2):c.255C>G (p.Ser85=)
|
|
|
NM_000275.3(OCA2):c.271_272delinsTT (p.Asp91Phe)
|
rs2141380377
|
|
NM_000275.3(OCA2):c.274del (p.Ser92fs)
|
rs778613495
|
|
NM_000275.3(OCA2):c.279C>T (p.Cys93=)
|
|
|
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)
|
|
|
NM_000275.3(OCA2):c.28C>T (p.Arg10Trp)
|
|
|
NM_000275.3(OCA2):c.291C>T (p.Asn97=)
|
|
|
NM_000275.3(OCA2):c.300G>C (p.Leu100Phe)
|
|
|
NM_000275.3(OCA2):c.301C>T (p.Leu101=)
|
|
|
NM_000275.3(OCA2):c.306G>T (p.Arg102Ser)
|
|
|
NM_000275.3(OCA2):c.312C>T (p.Ser104=)
|
|
|
NM_000275.3(OCA2):c.318G>A (p.Gln106=)
|
|
|
NM_000275.3(OCA2):c.326+10T>C
|
|
|
NM_000275.3(OCA2):c.326+17C>T
|
|
|
NM_000275.3(OCA2):c.326+17del
|
|
|
NM_000275.3(OCA2):c.326+17dup
|
|
|
NM_000275.3(OCA2):c.326+18T>C
|
|
|
NM_000275.3(OCA2):c.326+20A>G
|
|
|
NM_000275.3(OCA2):c.326G>C (p.Gly109Ala)
|
|
|
NM_000275.3(OCA2):c.327-16C>T
|
|
|
NM_000275.3(OCA2):c.327-2A>G
|
|
|
NM_000275.3(OCA2):c.327-4C>G
|
|
|
NM_000275.3(OCA2):c.327-5T>C
|
|
|
NM_000275.3(OCA2):c.327-8C>G
|
|
|
NM_000275.3(OCA2):c.327G>A (p.Gly109=)
|
rs751357554
|
|
NM_000275.3(OCA2):c.330A>G (p.Ser110=)
|
|
|
NM_000275.3(OCA2):c.33C>T (p.Tyr11=)
|
|
|
NM_000275.3(OCA2):c.345T>C (p.Val115=)
|
|
|
NM_000275.3(OCA2):c.34C>A (p.Pro12Thr)
|
|
|
NM_000275.3(OCA2):c.352C>A (p.Pro118Thr)
|
|
|
NM_000275.3(OCA2):c.354A>C (p.Pro118=)
|
|
|
NM_000275.3(OCA2):c.369T>C (p.Ala123=)
|
|
|
NM_000275.3(OCA2):c.374_375del (p.Glu125fs)
|
|
|
NM_000275.3(OCA2):c.393T>G (p.Ser131=)
|
rs776934050
|
|
NM_000275.3(OCA2):c.399C>T (p.Asp133=)
|
|
|
NM_000275.3(OCA2):c.39C>T (p.Gly13=)
|
|
|
NM_000275.3(OCA2):c.403G>T (p.Glu135Ter)
|
rs959570803
|
|
NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)
|
|
|
NM_000275.3(OCA2):c.407G>C (p.Arg136Pro)
|
|
|
NM_000275.3(OCA2):c.408_409del (p.Arg137fs)
|
|
|
NM_000275.3(OCA2):c.427G>T (p.Glu143Ter)
|
|
|
NM_000275.3(OCA2):c.42G>A (p.Ala14=)
|
|
|
NM_000275.3(OCA2):c.42G>T (p.Ala14=)
|
|
|
NM_000275.3(OCA2):c.432G>A (p.Val144=)
|
|
|
NM_000275.3(OCA2):c.44C>A (p.Pro15Gln)
|
rs201291702
|
|
NM_000275.3(OCA2):c.455C>T (p.Ser152Phe)
|
|
|
NM_000275.3(OCA2):c.459C>T (p.Ser153=)
|
rs2042803933
|
|
NM_000275.3(OCA2):c.460G>T (p.Glu154Ter)
|
|
|
NM_000275.3(OCA2):c.463A>T (p.Lys155Ter)
|
|
|
NM_000275.3(OCA2):c.46G>A (p.Ala16Thr)
|
rs2044640419
|
|
NM_000275.3(OCA2):c.470A>T (p.Asp157Val)
|
rs2141347910
|
|
NM_000275.3(OCA2):c.471C>T (p.Asp157=)
|
|
|
NM_000275.3(OCA2):c.480C>T (p.Asp160=)
|
|
|
NM_000275.3(OCA2):c.482del (p.Ser161fs)
|
|
|
NM_000275.3(OCA2):c.483C>T (p.Ser161=)
|
|
|
NM_000275.3(OCA2):c.485C>T (p.Pro162Leu)
|
|
|
NM_000275.3(OCA2):c.486G>A (p.Pro162=)
|
|
|
NM_000275.3(OCA2):c.486G>T (p.Pro162=)
|
rs1222531095
|
|
NM_000275.3(OCA2):c.489C>T (p.His163=)
|
|
|
NM_000275.3(OCA2):c.492C>T (p.Ile164=)
|
rs2042802209
|
|
NM_000275.3(OCA2):c.493C>T (p.Arg165Ter)
|
rs2141347507
|
|
NM_000275.3(OCA2):c.501T>C (p.Arg167=)
|
|
|
NM_000275.3(OCA2):c.511C>T (p.Leu171=)
|
|
|
NM_000275.3(OCA2):c.515+10C>T
|
|
|
NM_000275.3(OCA2):c.515+11T>G
|
|
|
NM_000275.3(OCA2):c.515+19C>G
|
|
|
NM_000275.3(OCA2):c.515+1G>A
|
|
|
NM_000275.3(OCA2):c.515+20C>A
|
|
|
NM_000275.3(OCA2):c.515+3A>G
|
rs2042801145
|
|
NM_000275.3(OCA2):c.515+6C>T
|
|
|
NM_000275.3(OCA2):c.515+7G>A
|
|
|
NM_000275.3(OCA2):c.515+8G>A
|
rs1419081403
|
|
NM_000275.3(OCA2):c.515G>C (p.Arg172Thr)
|
|
|
NM_000275.3(OCA2):c.516-10del
|
|
|
NM_000275.3(OCA2):c.516-13T>G
|
|
|
NM_000275.3(OCA2):c.516-15C>T
|
rs1566812824
|
|
NM_000275.3(OCA2):c.516-16A>G
|
|
|
NM_000275.3(OCA2):c.516-2A>G
|
|
|
NM_000275.3(OCA2):c.516-4G>A
|
|
|
NM_000275.3(OCA2):c.516-4G>C
|
|
|
NM_000275.3(OCA2):c.518G>A (p.Arg173His)
|
|
|
NM_000275.3(OCA2):c.525G>A (p.Val175=)
|
|
|
NM_000275.3(OCA2):c.534G>A (p.Leu178=)
|
|
|
NM_000275.3(OCA2):c.537A>G (p.Lys179=)
|
|
|
NM_000275.3(OCA2):c.546C>A (p.Gly182=)
|
rs759125087
|
|
NM_000275.3(OCA2):c.546C>T (p.Gly182=)
|
|
|
NM_000275.3(OCA2):c.553G>T (p.Ala185Ser)
|
rs2042701586
|
|
NM_000275.3(OCA2):c.570T>C (p.Cys190=)
|
|
|
NM_000275.3(OCA2):c.573+10T>A
|
|
|
NM_000275.3(OCA2):c.573+14C>G
|
|
|
NM_000275.3(OCA2):c.573+14C>T
|
|
|
NM_000275.3(OCA2):c.573+16G>T
|
|
|
NM_000275.3(OCA2):c.573+17C>T
|
|
|
NM_000275.3(OCA2):c.573+19C>G
|
rs2141318761
|
|
NM_000275.3(OCA2):c.573+2_573+3del
|
|
|
NM_000275.3(OCA2):c.573+6T>C
|
rs2042700750
|
|
NM_000275.3(OCA2):c.573+9C>T
|
|
|
NM_000275.3(OCA2):c.574-13C>G
|
|
|
NM_000275.3(OCA2):c.574-13C>T
|
rs2042628762
|
|
NM_000275.3(OCA2):c.574-17G>A
|
|
|
NM_000275.3(OCA2):c.574-17_574-3del
|
rs752489291
|
|
NM_000275.3(OCA2):c.574-19A>T
|
|
|
NM_000275.3(OCA2):c.574-1G>C
|
|
|
NM_000275.3(OCA2):c.574-4A>T
|
|
|
NM_000275.3(OCA2):c.588A>T (p.Leu196=)
|
|
|
NM_000275.3(OCA2):c.605A>G (p.Lys202Arg)
|
|
|
NM_000275.3(OCA2):c.612G>A (p.Trp204Ter)
|
|
|
NM_000275.3(OCA2):c.615G>A (p.Gln205=)
|
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
NM_000275.3(OCA2):c.624C>T (p.Ala208=)
|
|
|
NM_000275.3(OCA2):c.633G>A (p.Pro211=)
|
|
|
NM_000275.3(OCA2):c.633G>C (p.Pro211=)
|
|
|
NM_000275.3(OCA2):c.633G>T (p.Pro211=)
|
|
|
NM_000275.3(OCA2):c.638A>T (p.Glu213Val)
|
|
|
NM_000275.3(OCA2):c.639G>A (p.Glu213=)
|
|
|
NM_000275.3(OCA2):c.646+10dup
|
|
|
NM_000275.3(OCA2):c.646+113_646+114insCCATTCTCAC
|
rs11283428
|
|
NM_000275.3(OCA2):c.646+12C>G
|
|
|
NM_000275.3(OCA2):c.646+17C>G
|
|
|
NM_000275.3(OCA2):c.646+1G>A
|
|
|
NM_000275.3(OCA2):c.646+8A>G
|
|
|
NM_000275.3(OCA2):c.647-10A>G
|
|
|
NM_000275.3(OCA2):c.647-12_647-1del
|
|
|
NM_000275.3(OCA2):c.647-16C>G
|
|
|
NM_000275.3(OCA2):c.647-19C>G
|
|
|
NM_000275.3(OCA2):c.647-20T>C
|
|
|
NM_000275.3(OCA2):c.647-5C>G
|
|
|
NM_000275.3(OCA2):c.647-8T>A
|
|
|
NM_000275.3(OCA2):c.647-9C>A
|
|
|
NM_000275.3(OCA2):c.647-9C>T
|
rs1195427655
|
|
NM_000275.3(OCA2):c.647C>T (p.Ser216Phe)
|
rs2141261889
|
|
NM_000275.3(OCA2):c.649G>C (p.Val217Leu)
|
rs773252077
|
|
NM_000275.3(OCA2):c.655_658dup (p.Ser220delinsThrTer)
|
|
|
NM_000275.3(OCA2):c.660C>G (p.Ser220Arg)
|
|
|
NM_000275.3(OCA2):c.669G>C (p.Val223=)
|
|
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NM_000275.3(OCA2):c.669_675dup (p.Thr226fs)
|
|
|
NM_000275.3(OCA2):c.66G>A (p.Thr22=)
|
|
|
NM_000275.3(OCA2):c.66G>C (p.Thr22=)
|
|
|
NM_000275.3(OCA2):c.677C>T (p.Thr226Met)
|
|
|
NM_000275.3(OCA2):c.699A>T (p.Ala233=)
|
|
|
NM_000275.3(OCA2):c.69C>G (p.Ser23=)
|
rs138611712
|
|
NM_000275.3(OCA2):c.702G>C (p.Gly234=)
|
|
|
NM_000275.3(OCA2):c.705C>T (p.Ala235=)
|
|
|
NM_000275.3(OCA2):c.711G>C (p.Val237=)
|
|
|
NM_000275.3(OCA2):c.722C>G (p.Pro241Arg)
|
rs2305253
|
|
NM_000275.3(OCA2):c.722C>T (p.Pro241Leu)
|
rs2305253
|
|
NM_000275.3(OCA2):c.728G>A (p.Arg243His)
|
|
|
NM_000275.3(OCA2):c.731del (p.Pro244fs)
|
|
|
NM_000275.3(OCA2):c.733G>T (p.Gly245Trp)
|
rs1439057856
|
|
NM_000275.3(OCA2):c.744_746dup (p.Glu248_His249insGln)
|
rs2141260656
|
|
NM_000275.3(OCA2):c.74_78del (p.Pro25fs)
|
rs747408689
|
|
NM_000275.3(OCA2):c.757G>A (p.Glu253Lys)
|
|
|
NM_000275.3(OCA2):c.759G>A (p.Glu253=)
|
rs1011810786
|
|
NM_000275.3(OCA2):c.75C>G (p.Pro25=)
|
|
|
NM_000275.3(OCA2):c.761T>G (p.Leu254Arg)
|
|
|
NM_000275.3(OCA2):c.765C>T (p.Thr255=)
|
|
|
NM_000275.3(OCA2):c.766C>T (p.Gln256Ter)
|
|
|
NM_000275.3(OCA2):c.774C>T (p.Asp258=)
|
rs757789602
|
|
NM_000275.3(OCA2):c.786C>T (p.Ser262=)
|
|
|
NM_000275.3(OCA2):c.78C>T (p.Ser26=)
|
|
|
NM_000275.3(OCA2):c.792G>T (p.Trp264Cys)
|
rs755904696
|
|
NM_000275.3(OCA2):c.795G>A (p.Arg265=)
|
|
|
NM_000275.3(OCA2):c.798G>A (p.Arg266=)
|
|
|
NM_000275.3(OCA2):c.807+11T>C
|
|
|
NM_000275.3(OCA2):c.807+12_807+18del
|
|
|
NM_000275.3(OCA2):c.807+299del
|
rs368311380
|
|
NM_000275.3(OCA2):c.807+8T>A
|
|
|
NM_000275.3(OCA2):c.808-10_808-9delinsTT
|
|
|
NM_000275.3(OCA2):c.808-15C>T
|
rs534622236
|
|
NM_000275.3(OCA2):c.808-17T>C
|
|
|
NM_000275.3(OCA2):c.808-1G>C
|
|
|
NM_000275.3(OCA2):c.808-3C>G
|
|
|
NM_000275.3(OCA2):c.808-4A>G
|
|
|
NM_000275.3(OCA2):c.811A>G (p.Thr271Ala)
|
rs2141241183
|
|
NM_000275.3(OCA2):c.815A>G (p.His272Arg)
|
|
|
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)
|
rs797044784
|
|
NM_000275.3(OCA2):c.824C>G (p.Thr275Arg)
|
rs369750458
|
|
NM_000275.3(OCA2):c.824C>T (p.Thr275Met)
|
rs369750458
|
|
NM_000275.3(OCA2):c.825G>A (p.Thr275=)
|
|
|
NM_000275.3(OCA2):c.828G>A (p.Val276=)
|
|
|
NM_000275.3(OCA2):c.831T>A (p.Tyr277Ter)
|
rs759876062
|
|
NM_000275.3(OCA2):c.840G>A (p.Pro280=)
|
rs761203909
|
|
NM_000275.3(OCA2):c.849C>A (p.Ser283Arg)
|
rs143320446
|
|
NM_000275.3(OCA2):c.849C>T (p.Ser283=)
|
|
|
NM_000275.3(OCA2):c.84C>A (p.Leu28=)
|
|
|
NM_000275.3(OCA2):c.867C>T (p.Ser289=)
|
|
|
NM_000275.3(OCA2):c.867del (p.Ser289fs)
|
rs794727898
|
|
NM_000275.3(OCA2):c.870G>A (p.Arg290=)
|
|
|
NM_000275.3(OCA2):c.872C>T (p.Thr291Ile)
|
rs2141240247
|
|
NM_000275.3(OCA2):c.882A>G (p.Val294=)
|
|
|
NM_000275.3(OCA2):c.883C>T (p.Leu295=)
|
|
|
NM_000275.3(OCA2):c.885G>C (p.Leu295=)
|
rs2042383052
|
|
NM_000275.3(OCA2):c.890+10C>T
|
|
|
NM_000275.3(OCA2):c.890+1G>A
|
rs2042382744
|
|
NM_000275.3(OCA2):c.890+7T>A
|
|
|
NM_000275.3(OCA2):c.891-10C>A
|
rs1244128314
|
|
NM_000275.3(OCA2):c.891-10C>G
|
|
|
NM_000275.3(OCA2):c.891-10C>T
|
|
|
NM_000275.3(OCA2):c.891-11T>C
|
rs1446145401
|
|
NM_000275.3(OCA2):c.891-12T>C
|
|
|
NM_000275.3(OCA2):c.891-15T>C
|
|
|
NM_000275.3(OCA2):c.891-17G>C
|
|
|
NM_000275.3(OCA2):c.891-18C>T
|
|
|
NM_000275.3(OCA2):c.891-19T>C
|
|
|
NM_000275.3(OCA2):c.891-2A>G
|
|
|
NM_000275.3(OCA2):c.891-4G>T
|
rs745496559
|
|
NM_000275.3(OCA2):c.891-6C>T
|
rs1482531583
|
|
NM_000275.3(OCA2):c.891-9G>A
|
|
|
NM_000275.3(OCA2):c.894G>C (p.Glu298Asp)
|
|
|
NM_000275.3(OCA2):c.903del (p.Ile302fs)
|
|
|
NM_000275.3(OCA2):c.904A>G (p.Ile302Val)
|
|
|
NM_000275.3(OCA2):c.916del (p.Ala306fs)
|
rs2141229433
|
|
NM_000275.3(OCA2):c.924G>A (p.Leu308=)
|
|
|
NM_000275.3(OCA2):c.925C>T (p.Gln309Ter)
|
|
|
NM_000275.3(OCA2):c.934C>T (p.Gln312Ter)
|
|
|
NM_000275.3(OCA2):c.93T>G (p.Leu31=)
|
|
|
NM_000275.3(OCA2):c.942C>G (p.Val314=)
|
|
|
NM_000275.3(OCA2):c.950del (p.Leu316_Leu317insTer)
|
rs747395624
|
|
NM_000275.3(OCA2):c.961C>T (p.Gln321Ter)
|
|
|
NM_000275.3(OCA2):c.966C>A (p.Tyr322Ter)
|
|
|
NM_000275.3(OCA2):c.976A>G (p.Ser326Gly)
|
|
|
NM_000275.3(OCA2):c.979G>A (p.Val327Ile)
|
|
|
NM_000275.3(OCA2):c.987C>G (p.Thr329=)
|
|
|
NM_000275.3(OCA2):c.987C>T (p.Thr329=)
|
|
|