NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)
|
rs74653330
|
0.00630
|
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)
|
rs61738394
|
0.00532
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)
|
rs143218168
|
0.00054
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00043
|
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.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.2339G>A (p.Gly780Asp)
|
rs141949212
|
0.00021
|
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met)
|
rs150335311
|
0.00019
|
NM_000275.3(OCA2):c.1239+5G>C
|
rs757119713
|
0.00016
|
NM_000275.3(OCA2):c.1182+1G>A
|
rs371963034
|
0.00014
|
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)
|
rs200764804
|
0.00010
|
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)
|
rs765779905
|
0.00009
|
NM_000275.3(OCA2):c.1503+5G>A
|
rs368124046
|
0.00008
|
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.2037G>C (p.Trp679Cys)
|
rs121918169
|
0.00005
|
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)
|
rs757286784
|
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.941T>G (p.Val314Gly)
|
rs762262964
|
0.00004
|
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.2086_2095del (p.Ala696fs)
|
rs746307353
|
0.00003
|
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)
|
rs780296175
|
0.00003
|
NM_000275.3(OCA2):c.1044+2T>C
|
rs1368074390
|
0.00002
|
NM_000275.3(OCA2):c.1699G>A (p.Glu567Lys)
|
rs779086242
|
0.00002
|
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg)
|
rs797045839
|
0.00002
|
NM_000275.3(OCA2):c.440dup (p.Ser148fs)
|
rs1057518192
|
0.00002
|
NM_000275.3(OCA2):c.565_566del (p.Leu189fs)
|
rs1312967591
|
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.1378C>T (p.Leu460Phe)
|
rs748692597
|
0.00001
|
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser)
|
rs763819379
|
0.00001
|
NM_000275.3(OCA2):c.1555del (p.Val519fs)
|
rs765235945
|
0.00001
|
NM_000275.3(OCA2):c.1842+1G>T
|
rs387906240
|
0.00001
|
NM_000275.3(OCA2):c.2135del (p.Ile712fs)
|
rs775008954
|
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.2330G>A (p.Cys777Tyr)
|
rs776814755
|
0.00001
|
NM_000275.3(OCA2):c.573+5G>A
|
rs1432628513
|
0.00001
|
NM_000275.3(OCA2):c.583A>G (p.Ser195Gly)
|
rs767092342
|
0.00001
|
NM_000275.3(OCA2):c.631C>G (p.Pro211Ala)
|
rs777893926
|
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
|
GRCh37/hg19 15q13.1(chr15:28118372-28304810)x1
|
|
|
GRCh37/hg19 15q13.1(chr15:28171273-28171400)x1
|
|
|
NC_000015.10:g.27955214_27955217del
|
rs2140668412
|
|
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
|
|
|
NC_000015.9:g.(?_28090085)_(28096641_?)del
|
|
|
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.(?_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.(?_28231713)_(28235813_?)del
|
|
|
NC_000015.9:g.(?_28234727)_(28234832_?)del
|
|
|
NC_000015.9:g.(?_28235702)_(28277329_?)del
|
|
|
NC_000015.9:g.(?_28263523)_(28263723_?)del
|
|
|
NC_000015.9:g.(?_28269971)_(28270068_?)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.1045-15T>G
|
rs779461179
|
|
NM_000275.3(OCA2):c.1045-1G>T
|
|
|
NM_000275.3(OCA2):c.1045-2A>G
|
|
|
NM_000275.3(OCA2):c.1056_1062del (p.Thr353fs)
|
rs2041525028
|
|
NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp)
|
rs200398581
|
|
NM_000275.3(OCA2):c.1079C>T (p.Ser360Phe)
|
|
|
NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1])
|
|
|
NM_000275.3(OCA2):c.1091del (p.Leu364fs)
|
|
|
NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs)
|
rs1595774445
|
|
NM_000275.3(OCA2):c.121_128del (p.Gly41fs)
|
rs1555392037
|
|
NM_000275.3(OCA2):c.1228_1231del (p.Cys410fs)
|
|
|
NM_000275.3(OCA2):c.122del (p.Gly41fs)
|
rs1407174563
|
|
NM_000275.3(OCA2):c.1240-1G>T
|
|
|
NM_000275.3(OCA2):c.1248dup (p.Leu417fs)
|
|
|
NM_000275.3(OCA2):c.1262_1271del (p.Arg421fs)
|
|
|
NM_000275.3(OCA2):c.1268G>A (p.Trp423Ter)
|
|
|
NM_000275.3(OCA2):c.1275_1277del (p.Met425del)
|
rs752510351
|
|
NM_000275.3(OCA2):c.1307del (p.Leu436fs)
|
|
|
NM_000275.3(OCA2):c.131del (p.Gly44fs)
|
rs780625433
|
|
NM_000275.3(OCA2):c.1346dup (p.Thr450fs)
|
rs2140978976
|
|
NM_000275.3(OCA2):c.1349C>A (p.Thr450Lys)
|
|
|
NM_000275.3(OCA2):c.1365-1G>A
|
rs2140965742
|
|
NM_000275.3(OCA2):c.1379T>C (p.Leu460Pro)
|
|
|
NM_000275.3(OCA2):c.1395_1399del (p.Arg465fs)
|
|
|
NM_000275.3(OCA2):c.1418T>A (p.Ile473Asn)
|
|
|
NM_000275.3(OCA2):c.1426A>G (p.Asn476Asp)
|
|
|
NM_000275.3(OCA2):c.1501_1502insGC (p.Met501fs)
|
|
|
NM_000275.3(OCA2):c.1503+1G>A
|
|
|
NM_000275.3(OCA2):c.1504-2A>G
|
rs752460023
|
|
NM_000275.3(OCA2):c.1529del (p.Ala510fs)
|
|
|
NM_000275.3(OCA2):c.1538dup (p.Ile514fs)
|
|
|
NM_000275.3(OCA2):c.1611T>G (p.Tyr537Ter)
|
rs2140824287
|
|
NM_000275.3(OCA2):c.1615_1621dup (p.Pro541fs)
|
|
|
NM_000275.3(OCA2):c.163del (p.Ala55fs)
|
rs1254334474
|
|
NM_000275.3(OCA2):c.163dup (p.Ala55fs)
|
|
|
NM_000275.3(OCA2):c.168del (p.Gln58fs)
|
|
|
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)
|
|
|
NM_000275.3(OCA2):c.171del (p.Gln58fs)
|
rs1555391997
|
|
NM_000275.3(OCA2):c.172C>T (p.Gln58Ter)
|
|
|
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
|
|
|
NM_000275.3(OCA2):c.1773_1774insT (p.Thr592fs)
|
|
|
NM_000275.3(OCA2):c.1784+1G>A
|
|
|
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.1828G>T (p.Glu610Ter)
|
|
|
NM_000275.3(OCA2):c.1832T>C (p.Leu611Pro)
|
|
|
NM_000275.3(OCA2):c.1834C>T (p.Gln612Ter)
|
|
|
NM_000275.3(OCA2):c.1841del (p.Lys614fs)
|
|
|
NM_000275.3(OCA2):c.1841dup (p.His615fs)
|
|
|
NM_000275.3(OCA2):c.1842+2T>C
|
rs1226502822
|
|
NM_000275.3(OCA2):c.1843-1G>T
|
rs2040042896
|
|
NM_000275.3(OCA2):c.1865T>C (p.Leu622Pro)
|
|
|
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs)
|
|
|
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu)
|
rs868238523
|
|
NM_000275.3(OCA2):c.1935dup (p.Ile646fs)
|
|
|
NM_000275.3(OCA2):c.1951+1215G>T
|
|
|
NM_000275.3(OCA2):c.1951+1G>A
|
|
|
NM_000275.3(OCA2):c.1951+1G>C
|
rs752727398
|
|
NM_000275.3(OCA2):c.1951+2T>A
|
|
|
NM_000275.3(OCA2):c.1951+2T>C
|
|
|
NM_000275.3(OCA2):c.1960del (p.Ala654fs)
|
rs387906241
|
|
NM_000275.3(OCA2):c.1978del (p.Trp660fs)
|
|
|
NM_000275.3(OCA2):c.1979G>A (p.Trp660Ter)
|
rs1429912526
|
|
NM_000275.3(OCA2):c.1980G>A (p.Trp660Ter)
|
|
|
NM_000275.3(OCA2):c.199del (p.Glu67fs)
|
|
|
NM_000275.3(OCA2):c.2011_2015del (p.Glu671fs)
|
|
|
NM_000275.3(OCA2):c.2014_2016delinsT (p.Ile672fs)
|
|
|
NM_000275.3(OCA2):c.2049_2050insC (p.Phe684fs)
|
|
|
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs)
|
rs1595660890
|
|
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.2158C>T (p.Arg720Cys)
|
|
|
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs)
|
rs771620099
|
|
NM_000275.3(OCA2):c.2195C>G (p.Ser732Ter)
|
|
|
NM_000275.3(OCA2):c.2224_2237del (p.Ile742fs)
|
|
|
NM_000275.3(OCA2):c.2244+1G>A
|
rs868098120
|
|
NM_000275.3(OCA2):c.2244+2T>G
|
|
|
NM_000275.3(OCA2):c.22_23dup (p.Arg9fs)
|
|
|
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.2336del (p.Gly779fs)
|
rs1261095563
|
|
NM_000275.3(OCA2):c.2338+1G>A
|
|
|
NM_000275.3(OCA2):c.2338+2T>G
|
rs1064796956
|
|
NM_000275.3(OCA2):c.2353_2356del (p.Ile785fs)
|
rs781001810
|
|
NM_000275.3(OCA2):c.2401G>T (p.Gly801Ter)
|
|
|
NM_000275.3(OCA2):c.2404dup (p.Tyr802fs)
|
|
|
NM_000275.3(OCA2):c.2406T>G (p.Tyr802Ter)
|
rs2035478131
|
|
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.274del (p.Ser92fs)
|
rs778613495
|
|
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)
|
|
|
NM_000275.3(OCA2):c.374_375del (p.Glu125fs)
|
|
|
NM_000275.3(OCA2):c.403G>T (p.Glu135Ter)
|
rs959570803
|
|
NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)
|
|
|
NM_000275.3(OCA2):c.408_409del (p.Arg137fs)
|
|
|
NM_000275.3(OCA2):c.427G>T (p.Glu143Ter)
|
|
|
NM_000275.3(OCA2):c.460G>T (p.Glu154Ter)
|
|
|
NM_000275.3(OCA2):c.463A>T (p.Lys155Ter)
|
|
|
NM_000275.3(OCA2):c.482del (p.Ser161fs)
|
|
|
NM_000275.3(OCA2):c.493C>T (p.Arg165Ter)
|
rs2141347507
|
|
NM_000275.3(OCA2):c.574-1G>C
|
|
|
NM_000275.3(OCA2):c.612G>A (p.Trp204Ter)
|
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
NM_000275.3(OCA2):c.646+1G>T
|
rs1046172334
|
|
NM_000275.3(OCA2):c.655_658dup (p.Ser220delinsThrTer)
|
|
|
NM_000275.3(OCA2):c.669_675dup (p.Thr226fs)
|
|
|
NM_000275.3(OCA2):c.731del (p.Pro244fs)
|
|
|
NM_000275.3(OCA2):c.74_78del (p.Pro25fs)
|
rs747408689
|
|
NM_000275.3(OCA2):c.759del (p.Glu253fs)
|
|
|
NM_000275.3(OCA2):c.766C>T (p.Gln256Ter)
|
|
|
NM_000275.3(OCA2):c.808-1G>C
|
|
|
NM_000275.3(OCA2):c.808-3C>G
|
|
|
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)
|
rs797044784
|
|
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)
|
|
|
NM_000275.3(OCA2):c.831T>A (p.Tyr277Ter)
|
rs759876062
|
|
NM_000275.3(OCA2):c.867del (p.Ser289fs)
|
rs794727898
|
|
NM_000275.3(OCA2):c.903del (p.Ile302fs)
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NM_000275.3(OCA2):c.916del (p.Ala306fs)
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rs2141229433
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NM_000275.3(OCA2):c.925C>T (p.Gln309Ter)
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NM_000275.3(OCA2):c.934C>T (p.Gln312Ter)
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NM_000275.3(OCA2):c.950del (p.Leu316_Leu317insTer)
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rs747395624
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NM_000275.3(OCA2):c.961C>T (p.Gln321Ter)
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NM_000275.3(OCA2):c.966C>A (p.Tyr322Ter)
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Single allele
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