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.1785-47A>G
|
rs7170989
|
0.60954
|
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.1365-15C>T
|
rs12910433
|
0.51222
|
NM_000275.3(OCA2):c.2328T>C (p.Ala776=)
|
rs1800419
|
0.47440
|
NM_000275.3(OCA2):c.2364G>A (p.Ser788=)
|
rs12592307
|
0.19938
|
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp)
|
rs1800401
|
0.07659
|
NM_000275.3(OCA2):c.2058A>C (p.Ala686=)
|
rs1800416
|
0.05476
|
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln)
|
rs1800407
|
0.04917
|
NM_000275.3(OCA2):c.*50A>G
|
rs7175266
|
0.02314
|
NM_000275.3(OCA2):c.2165T>C (p.Ile722Thr)
|
rs1800417
|
0.01681
|
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.1441G>A (p.Ala481Thr)
|
rs74653330
|
0.00630
|
NM_000275.3(OCA2):c.574-19A>G
|
rs145242923
|
0.00618
|
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)
|
rs61738394
|
0.00532
|
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.1153T>A (p.Phe385Ile)
|
rs137956605
|
0.00213
|
NM_000275.3(OCA2):c.*166C>T
|
rs182290687
|
0.00209
|
NM_000275.3(OCA2):c.*367C>G
|
rs75043266
|
0.00196
|
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.*54A>G
|
rs192734230
|
0.00144
|
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr)
|
rs145968118
|
0.00115
|
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.1117-17T>C
|
rs200081580
|
0.00078
|
NM_000275.3(OCA2):c.1857C>T (p.Asp619=)
|
rs7164127
|
0.00070
|
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)
|
rs143218168
|
0.00054
|
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.*271G>A
|
rs151210258
|
0.00042
|
NM_000275.3(OCA2):c.751G>A (p.Val251Met)
|
rs147432138
|
0.00038
|
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.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.1211C>T (p.Thr404Met)
|
rs144812594
|
0.00023
|
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)
|
rs121918167
|
0.00023
|
NM_000275.3(OCA2):c.-109T>C
|
rs886051027
|
0.00022
|
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)
|
rs141949212
|
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.727C>T (p.Arg243Cys)
|
rs138065338
|
0.00018
|
NM_000275.3(OCA2):c.1239+5G>C
|
rs757119713
|
0.00016
|
NM_000275.3(OCA2):c.*300T>C
|
rs776180839
|
0.00014
|
NM_000275.3(OCA2):c.1182+1G>A
|
rs371963034
|
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.1047C>T (p.Ile349=)
|
rs767182132
|
0.00010
|
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)
|
rs200764804
|
0.00010
|
NM_000275.3(OCA2):c.1479T>G (p.Val493=)
|
rs374434751
|
0.00009
|
NM_000275.3(OCA2):c.2245-6C>A
|
rs368772032
|
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.972C>T (p.Arg324=)
|
rs368832716
|
0.00009
|
NM_000275.3(OCA2):c.1503+5G>A
|
rs368124046
|
0.00008
|
NM_000275.3(OCA2):c.2169C>T (p.Ala723=)
|
rs370020051
|
0.00007
|
NM_000275.3(OCA2):c.1027G>A (p.Ala343Thr)
|
rs756251130
|
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.632C>T (p.Pro211Leu)
|
rs190612616
|
0.00006
|
NM_000275.3(OCA2):c.666C>T (p.His222=)
|
rs751309779
|
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.2037G>C (p.Trp679Cys)
|
rs121918169
|
0.00005
|
NM_000275.3(OCA2):c.*21G>A
|
rs369189827
|
0.00004
|
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)
|
rs757286784
|
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.85G>A (p.Ala29Thr)
|
rs759291231
|
0.00004
|
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.157del (p.Arg53fs)
|
rs758894409
|
0.00003
|
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)
|
rs780296175
|
0.00003
|
NM_000275.3(OCA2):c.1222G>A (p.Asp408Asn)
|
rs769550106
|
0.00002
|
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr)
|
rs772324459
|
0.00002
|
NM_000275.3(OCA2):c.1784+6G>A
|
rs779188429
|
0.00002
|
NM_000275.3(OCA2):c.216C>G (p.Leu72=)
|
rs766072141
|
0.00002
|
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg)
|
rs797045839
|
0.00002
|
NM_000275.3(OCA2):c.648C>T (p.Ser216=)
|
rs886051026
|
0.00002
|
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu)
|
rs745573222
|
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.1044+1G>T
|
rs185504549
|
0.00001
|
NM_000275.3(OCA2):c.1045-9T>G
|
rs755604671
|
0.00001
|
NM_000275.3(OCA2):c.1080C>T (p.Ser360=)
|
rs373775562
|
0.00001
|
NM_000275.3(OCA2):c.1178G>T (p.Gly393Val)
|
rs749661379
|
0.00001
|
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile)
|
rs121918171
|
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.1337T>C (p.Met446Thr)
|
rs1185751753
|
0.00001
|
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser)
|
rs763819379
|
0.00001
|
NM_000275.3(OCA2):c.1444A>C (p.Thr482Pro)
|
rs2041233832
|
0.00001
|
NM_000275.3(OCA2):c.162G>A (p.Gly54=)
|
rs1391198560
|
0.00001
|
NM_000275.3(OCA2):c.1842+1G>T
|
rs387906240
|
0.00001
|
NM_000275.3(OCA2):c.1849A>T (p.Ile617Leu)
|
rs763016773
|
0.00001
|
NM_000275.3(OCA2):c.1864C>T (p.Leu622=)
|
rs543493041
|
0.00001
|
NM_000275.3(OCA2):c.2145C>G (p.Val715=)
|
rs779836224
|
0.00001
|
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg)
|
rs768934658
|
0.00001
|
NM_000275.3(OCA2):c.2225dup (p.Phe744fs)
|
rs2036555943
|
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.2361G>A (p.Ala787=)
|
rs763462686
|
0.00001
|
NM_000275.3(OCA2):c.583A>G (p.Ser195Gly)
|
rs767092342
|
0.00001
|
NM_000275.3(OCA2):c.588A>C (p.Leu196=)
|
rs374350218
|
0.00001
|
NM_000275.3(OCA2):c.594G>A (p.Pro198=)
|
rs762764142
|
0.00001
|
NM_000275.3(OCA2):c.807+1G>T
|
rs763219039
|
0.00001
|
GRCh37/hg19 15q13.1(chr15:28262885-28265761)x1
|
|
|
NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del
|
|
|
NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del
|
|
|
NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del
|
|
|
NM_000275.2(OCA2):c.646+1823_807+678delinsAAA
|
rs1555375711
|
|
NM_000275.2(OCA2):c.647-?_807+?del
|
|
|
NM_000275.2(OCA2):c.647-?_890+?del
|
|
|
NM_000275.3(OCA2):c.*371G>C
|
rs112155098
|
|
NM_000275.3(OCA2):c.*410C>A
|
rs2030222775
|
|
NM_000275.3(OCA2):c.1045-10T>G
|
|
|
NM_000275.3(OCA2):c.1045-15T>G
|
rs779461179
|
|
NM_000275.3(OCA2):c.1064C>A (p.Ala355Glu)
|
|
|
NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp)
|
rs200398581
|
|
NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1])
|
|
|
NM_000275.3(OCA2):c.1116+6T>C
|
|
|
NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs)
|
rs1595774445
|
|
NM_000275.3(OCA2):c.1183A>G (p.Met395Val)
|
|
|
NM_000275.3(OCA2):c.121_128del (p.Gly41fs)
|
rs1555392037
|
|
NM_000275.3(OCA2):c.1240-1G>T
|
|
|
NM_000275.3(OCA2):c.1248dup (p.Leu417fs)
|
|
|
NM_000275.3(OCA2):c.1286T>C (p.Leu429Pro)
|
rs1595764680
|
|
NM_000275.3(OCA2):c.1319T>C (p.Leu440Ser)
|
rs2041306355
|
|
NM_000275.3(OCA2):c.131del (p.Gly44fs)
|
rs780625433
|
|
NM_000275.3(OCA2):c.1352C>A (p.Pro451His)
|
rs886051024
|
|
NM_000275.3(OCA2):c.1365-1G>A
|
rs2140965742
|
|
NM_000275.3(OCA2):c.1370G>T (p.Cys457Phe)
|
rs886051023
|
|
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg)
|
rs747214535
|
|
NM_000275.3(OCA2):c.1460C>A (p.Pro487His)
|
rs1595760903
|
|
NM_000275.3(OCA2):c.1481C>T (p.Ser494Phe)
|
|
|
NM_000275.3(OCA2):c.1553T>A (p.Leu518His)
|
rs886051021
|
|
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)
|
rs779850564
|
|
NM_000275.3(OCA2):c.1637-2A>G
|
rs1595717218
|
|
NM_000275.3(OCA2):c.163dup (p.Ala55fs)
|
|
|
NM_000275.3(OCA2):c.1648G>A (p.Glu550Lys)
|
rs2140706418
|
|
NM_000275.3(OCA2):c.1657_1675del (p.Val553fs)
|
rs2040273876
|
|
NM_000275.3(OCA2):c.1699G>T (p.Glu567Ter)
|
rs779086242
|
|
NM_000275.3(OCA2):c.1706_1707insT (p.Ala570fs)
|
rs2140704811
|
|
NM_000275.3(OCA2):c.171del (p.Gln58fs)
|
rs1555391997
|
|
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
|
|
|
NM_000275.3(OCA2):c.1778T>C (p.Phe593Ser)
|
|
|
NM_000275.3(OCA2):c.1842+2T>C
|
rs1226502822
|
|
NM_000275.3(OCA2):c.1842+6C>T
|
rs2040177115
|
|
NM_000275.3(OCA2):c.1860G>C (p.Gly620=)
|
rs2140619474
|
|
NM_000275.3(OCA2):c.1874A>G (p.Lys625Arg)
|
|
|
NM_000275.3(OCA2):c.1951+1215G>T
|
|
|
NM_000275.3(OCA2):c.1951+1G>C
|
rs752727398
|
|
NM_000275.3(OCA2):c.1952-7T>G
|
|
|
NM_000275.3(OCA2):c.1960del (p.Ala654fs)
|
rs387906241
|
|
NM_000275.3(OCA2):c.1969G>C (p.Gly657Arg)
|
rs879253729
|
|
NM_000275.3(OCA2):c.1973C>T (p.Ala658Val)
|
rs749249918
|
|
NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe)
|
rs2140372179
|
|
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val)
|
rs797045838
|
|
NM_000275.3(OCA2):c.2055del (p.Phe685fs)
|
rs772595552
|
|
NM_000275.3(OCA2):c.2055dup (p.Ala686fs)
|
|
|
NM_000275.3(OCA2):c.2080-1G>A
|
rs1555422232
|
|
NM_000275.3(OCA2):c.2089C>T (p.His697Tyr)
|
|
|
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs)
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rs771620099
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NM_000275.3(OCA2):c.2208G>A (p.Ser736=)
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rs1800418
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NM_000275.3(OCA2):c.2208G>T (p.Ser736=)
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rs1800418
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NM_000275.3(OCA2):c.2229G>A (p.Pro743=)
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rs41307118
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NM_000275.3(OCA2):c.2244+1G>A
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rs868098120
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NM_000275.3(OCA2):c.2287C>A (p.Leu763Met)
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rs139837760
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NM_000275.3(OCA2):c.2296C>A (p.Pro766Thr)
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rs144064082
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NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp)
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rs987780496
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NM_000275.3(OCA2):c.2404dup (p.Tyr802fs)
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NM_000275.3(OCA2):c.2412C>G (p.Phe804Leu)
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rs747340554
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NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser)
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NM_000275.3(OCA2):c.2438G>A (p.Gly813Asp)
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rs2030274876
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NM_000275.3(OCA2):c.374_375del (p.Glu125fs)
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NM_000275.3(OCA2):c.515+1G>A
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NM_000275.3(OCA2):c.515G>A (p.Arg172Lys)
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rs762091768
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NM_000275.3(OCA2):c.516-3C>A
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NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
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rs767489236
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NM_000275.3(OCA2):c.646+1G>T
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rs1046172334
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NM_000275.3(OCA2):c.654C>A (p.Asn218Lys)
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rs2042479500
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NM_000275.3(OCA2):c.681del (p.Leu228fs)
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rs1566803740
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NM_000275.3(OCA2):c.722C>G (p.Pro241Arg)
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rs2305253
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NM_000275.3(OCA2):c.759del (p.Glu253fs)
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|
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NM_000275.3(OCA2):c.808-1_817del
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NM_000275.3(OCA2):c.808-3C>G
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NM_000275.3(OCA2):c.808_817del (p.Val270fs)
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NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)
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rs797044784
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NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)
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|
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NM_000275.3(OCA2):c.849C>A (p.Ser283Arg)
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rs143320446
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NM_000275.3(OCA2):c.885G>A (p.Leu295=)
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rs2042383052
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NM_000275.3(OCA2):c.890+1G>A
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rs2042382744
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NM_000275.3(OCA2):c.950del (p.Leu316_Leu317insTer)
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rs747395624
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Single allele
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