NM_017570.5(OPLAH):c.3027C>T (p.Ala1009=)
|
rs11136253
|
0.99656
|
NM_017570.5(OPLAH):c.850A>C (p.Ser284Arg)
|
rs3935209
|
0.21869
|
NM_017570.5(OPLAH):c.1836T>C (p.Phe612=)
|
rs11993554
|
0.15837
|
NM_017570.5(OPLAH):c.12C>G (p.Pro4=)
|
rs7003860
|
0.14109
|
NM_017570.5(OPLAH):c.92G>A (p.Arg31Gln)
|
rs7004867
|
0.08180
|
NM_017570.5(OPLAH):c.222C>T (p.Ile74=)
|
rs6558292
|
0.06128
|
NM_017570.5(OPLAH):c.1578C>T (p.Asp526=)
|
rs72695427
|
0.05544
|
NM_017570.5(OPLAH):c.1018G>A (p.Val340Ile)
|
rs55916375
|
0.05428
|
NM_017570.5(OPLAH):c.2151C>T (p.Ile717=)
|
rs115894989
|
0.05162
|
NM_017570.5(OPLAH):c.2636C>T (p.Ala879Val)
|
rs61743013
|
0.04434
|
NM_017570.5(OPLAH):c.3721-20del
|
rs148937107
|
0.03336
|
NM_017570.5(OPLAH):c.2832C>T (p.Tyr944=)
|
rs61732533
|
0.03206
|
NM_017570.5(OPLAH):c.3462-9C>T
|
rs148291810
|
0.02230
|
NM_017570.5(OPLAH):c.1750G>T (p.Gly584Cys)
|
rs10107332
|
0.01535
|
NM_017570.5(OPLAH):c.1375C>T (p.Arg459Cys)
|
rs117057524
|
0.01100
|
NM_017570.5(OPLAH):c.3571C>T (p.Leu1191=)
|
rs61740339
|
0.00958
|
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile)
|
rs185836803
|
0.00867
|
NM_017570.5(OPLAH):c.3720+8C>T
|
rs374770909
|
0.00674
|
NM_017570.5(OPLAH):c.1502G>A (p.Arg501Gln)
|
rs78071726
|
0.00484
|
NM_017570.5(OPLAH):c.805C>T (p.Arg269Cys)
|
rs201078986
|
0.00434
|
NM_017570.5(OPLAH):c.402G>A (p.Leu134=)
|
rs200748510
|
0.00423
|
NM_017570.5(OPLAH):c.443G>C (p.Gly148Ala)
|
rs111254751
|
0.00403
|
NM_017570.5(OPLAH):c.171+6C>A
|
rs117389174
|
0.00370
|
NM_017570.5(OPLAH):c.471G>A (p.Thr157=)
|
rs145079111
|
0.00324
|
NM_017570.5(OPLAH):c.1921C>T (p.Arg641Cys)
|
rs150735438
|
0.00296
|
NM_017570.5(OPLAH):c.2163G>T (p.Val721=)
|
rs369464657
|
0.00294
|
NM_017570.5(OPLAH):c.1633G>A (p.Val545Met)
|
rs116776822
|
0.00272
|
NM_017570.5(OPLAH):c.2792A>G (p.Gln931Arg)
|
rs200702041
|
0.00262
|
NM_017570.5(OPLAH):c.2473G>A (p.Gly825Arg)
|
rs11777194
|
0.00176
|
NM_017570.5(OPLAH):c.949+12G>A
|
rs142819774
|
0.00156
|
NM_017570.5(OPLAH):c.2964C>T (p.Asp988=)
|
rs186192116
|
0.00142
|
NM_017570.5(OPLAH):c.154C>T (p.Arg52Cys)
|
rs182298526
|
0.00140
|
NM_017570.5(OPLAH):c.2346G>T (p.Leu782=)
|
rs370115329
|
0.00121
|
NM_017570.5(OPLAH):c.1318A>G (p.Asn440Asp)
|
rs200098915
|
0.00111
|
NM_017570.5(OPLAH):c.1089-5C>T
|
rs77001213
|
0.00106
|
NM_017570.5(OPLAH):c.2097-8C>T
|
rs376189869
|
0.00099
|
NM_017570.5(OPLAH):c.1918G>A (p.Gly640Ser)
|
rs201454549
|
0.00095
|
NM_017570.5(OPLAH):c.1501C>T (p.Arg501Trp)
|
rs147294871
|
0.00078
|
NM_017570.5(OPLAH):c.2523G>A (p.Pro841=)
|
rs187500280
|
0.00073
|
NM_017570.5(OPLAH):c.1933C>T (p.Arg645Cys)
|
rs201475103
|
0.00056
|
NM_017570.5(OPLAH):c.1372G>A (p.Val458Met)
|
rs144920839
|
0.00054
|
NM_017570.5(OPLAH):c.2096+8G>A
|
rs372984548
|
0.00053
|
NM_017570.5(OPLAH):c.2512-7C>A
|
rs541135459
|
0.00050
|
NM_017570.5(OPLAH):c.2880T>G (p.Ala960=)
|
rs372144482
|
0.00047
|
NM_017570.5(OPLAH):c.36C>T (p.Ile12=)
|
rs532622317
|
0.00045
|
NM_017570.5(OPLAH):c.158G>A (p.Arg53His)
|
rs370049811
|
0.00042
|
NM_017570.5(OPLAH):c.1039C>G (p.Leu347Val)
|
rs181530163
|
0.00037
|
NM_017570.5(OPLAH):c.1973G>T (p.Arg658Leu)
|
rs148181675
|
0.00036
|
NM_017570.5(OPLAH):c.3821A>T (p.Glu1274Val)
|
rs202100905
|
0.00027
|
NM_017570.5(OPLAH):c.145G>A (p.Glu49Lys)
|
rs782616822
|
0.00026
|
NM_017570.5(OPLAH):c.573C>G (p.Leu191=)
|
rs375794631
|
0.00025
|
NM_017570.5(OPLAH):c.2048G>T (p.Gly683Val)
|
rs559740801
|
0.00024
|
NM_017570.5(OPLAH):c.2693C>T (p.Thr898Met)
|
rs199829912
|
0.00024
|
NM_017570.5(OPLAH):c.2160C>T (p.Ser720=)
|
rs373638784
|
0.00020
|
NM_017570.5(OPLAH):c.734T>C (p.Ile245Thr)
|
rs556057842
|
0.00017
|
NM_017570.5(OPLAH):c.1424C>T (p.Ala475Val)
|
rs374935079
|
0.00015
|
NM_017570.5(OPLAH):c.3808C>T (p.Leu1270=)
|
rs776933028
|
0.00015
|
NM_017570.5(OPLAH):c.3820G>A (p.Glu1274Lys)
|
rs371840526
|
0.00014
|
NM_017570.5(OPLAH):c.714C>T (p.Asp238=)
|
rs372974283
|
0.00014
|
NM_017570.5(OPLAH):c.209A>C (p.Asp70Ala)
|
rs371222393
|
0.00012
|
NM_017570.5(OPLAH):c.3655C>T (p.Leu1219=)
|
rs373169020
|
0.00011
|
NM_017570.5(OPLAH):c.430C>T (p.Arg144Cys)
|
rs782533601
|
0.00011
|
NM_017570.5(OPLAH):c.1754C>T (p.Thr585Met)
|
rs370157218
|
0.00010
|
NM_017570.5(OPLAH):c.3843T>C (p.Tyr1281=)
|
rs201482072
|
0.00010
|
NM_017570.5(OPLAH):c.2568C>T (p.His856=)
|
rs377155890
|
0.00009
|
NM_017570.5(OPLAH):c.1850T>C (p.Met617Thr)
|
rs370801470
|
0.00008
|
NM_017570.5(OPLAH):c.1972C>T (p.Arg658Trp)
|
rs782702109
|
0.00008
|
NM_017570.5(OPLAH):c.272G>A (p.Arg91Gln)
|
rs554854985
|
0.00007
|
NM_017570.5(OPLAH):c.135C>T (p.Asp45=)
|
rs373510142
|
0.00006
|
NM_017570.5(OPLAH):c.1497C>T (p.Ile499=)
|
rs369897941
|
0.00006
|
NM_017570.5(OPLAH):c.2273G>A (p.Arg758His)
|
rs200773486
|
0.00006
|
NM_017570.5(OPLAH):c.3019-11G>A
|
rs562417499
|
0.00006
|
NM_017570.5(OPLAH):c.313_316del (p.Arg105fs)
|
rs782750497
|
0.00006
|
NM_017570.5(OPLAH):c.1030G>A (p.Ala344Thr)
|
rs199914741
|
0.00005
|
NM_017570.5(OPLAH):c.212C>G (p.Ser71Cys)
|
rs782130905
|
0.00005
|
NM_017570.5(OPLAH):c.2367C>T (p.Ile789=)
|
rs1304694945
|
0.00005
|
NM_017570.5(OPLAH):c.271C>T (p.Arg91Trp)
|
rs575947480
|
0.00005
|
NM_017570.5(OPLAH):c.1046T>G (p.Ile349Ser)
|
rs782468679
|
0.00004
|
NM_017570.5(OPLAH):c.2512-6C>T
|
rs532077880
|
0.00004
|
NM_017570.5(OPLAH):c.463+15G>A
|
rs369287805
|
0.00004
|
NM_017570.5(OPLAH):c.1438C>T (p.Pro480Ser)
|
rs782479445
|
0.00003
|
NM_017570.5(OPLAH):c.1674T>G (p.Cys558Trp)
|
rs1234462205
|
0.00003
|
NM_017570.5(OPLAH):c.3156C>T (p.Gly1052=)
|
rs782559583
|
0.00003
|
NM_017570.5(OPLAH):c.646G>A (p.Val216Met)
|
rs374238208
|
0.00003
|
NM_017570.5(OPLAH):c.659C>T (p.Ser220Leu)
|
rs781785267
|
0.00003
|
NM_017570.5(OPLAH):c.1128C>G (p.Ala376=)
|
rs782052817
|
0.00002
|
NM_017570.5(OPLAH):c.1300G>A (p.Val434Ile)
|
rs536115347
|
0.00002
|
NM_017570.5(OPLAH):c.1340C>T (p.Pro447Leu)
|
rs782808832
|
0.00002
|
NM_017570.5(OPLAH):c.187C>T (p.Leu63=)
|
rs782424960
|
0.00002
|
NM_017570.5(OPLAH):c.1884G>A (p.Pro628=)
|
rs373083081
|
0.00002
|
NM_017570.5(OPLAH):c.1939G>A (p.Glu647Lys)
|
rs371821782
|
0.00002
|
NM_017570.5(OPLAH):c.2230C>T (p.Arg744Cys)
|
rs371837669
|
0.00002
|
NM_017570.5(OPLAH):c.2957C>T (p.Ser986Leu)
|
rs1332726078
|
0.00002
|
NM_017570.5(OPLAH):c.1075C>T (p.Arg359Cys)
|
rs568623659
|
0.00001
|
NM_017570.5(OPLAH):c.11C>T (p.Pro4Leu)
|
rs1461320056
|
0.00001
|
NM_017570.5(OPLAH):c.1265C>T (p.Ala422Val)
|
rs375526531
|
0.00001
|
NM_017570.5(OPLAH):c.136G>A (p.Ala46Thr)
|
rs781819330
|
0.00001
|
NM_017570.5(OPLAH):c.137C>T (p.Ala46Val)
|
rs782757072
|
0.00001
|
NM_017570.5(OPLAH):c.1437C>T (p.Asp479=)
|
rs782608385
|
0.00001
|
NM_017570.5(OPLAH):c.1806G>A (p.Ser602=)
|
rs782390629
|
0.00001
|
NM_017570.5(OPLAH):c.1909C>T (p.Arg637Trp)
|
rs782125024
|
0.00001
|
NM_017570.5(OPLAH):c.210C>T (p.Asp70=)
|
rs781951821
|
0.00001
|
NM_017570.5(OPLAH):c.2231G>A (p.Arg744His)
|
rs565620541
|
0.00001
|
NM_017570.5(OPLAH):c.2302C>T (p.Arg768Cys)
|
rs939343558
|
0.00001
|
NM_017570.5(OPLAH):c.2557C>T (p.Arg853Ter)
|
rs543486699
|
0.00001
|
NM_017570.5(OPLAH):c.2654A>G (p.Lys885Arg)
|
rs374235442
|
0.00001
|
NM_017570.5(OPLAH):c.290C>T (p.Ala97Val)
|
rs781965027
|
0.00001
|
NM_017570.5(OPLAH):c.2927A>C (p.Gln976Pro)
|
rs1235708168
|
0.00001
|
NM_017570.5(OPLAH):c.2973C>G (p.Asp991Glu)
|
rs782051228
|
0.00001
|
NM_017570.5(OPLAH):c.2995C>G (p.Arg999Gly)
|
rs1471350813
|
0.00001
|
NM_017570.5(OPLAH):c.3016C>T (p.Gln1006Ter)
|
rs782331682
|
0.00001
|
NM_017570.5(OPLAH):c.3394G>A (p.Gly1132Arg)
|
rs782653195
|
0.00001
|
NM_017570.5(OPLAH):c.3518G>T (p.Arg1173Leu)
|
rs782094303
|
0.00001
|
NM_017570.5(OPLAH):c.587+1G>A
|
rs1272869557
|
0.00001
|
NM_017570.5(OPLAH):c.672C>T (p.Pro224=)
|
rs368105559
|
0.00001
|
NM_017570.5(OPLAH):c.816C>T (p.Gly272=)
|
rs533428247
|
0.00001
|
NM_017570.5(OPLAH):c.861C>T (p.Leu287=)
|
rs781841221
|
0.00001
|
NM_017570.5(OPLAH):c.104T>G (p.Leu35Arg)
|
|
|
NM_017570.5(OPLAH):c.1050C>T (p.Asn350=)
|
|
|
NM_017570.5(OPLAH):c.1091C>G (p.Ser364Cys)
|
rs980100537
|
|
NM_017570.5(OPLAH):c.1094G>C (p.Gly365Ala)
|
|
|
NM_017570.5(OPLAH):c.1113C>T (p.Pro371=)
|
|
|
NM_017570.5(OPLAH):c.1114G>A (p.Glu372Lys)
|
|
|
NM_017570.5(OPLAH):c.1137A>G (p.Gly379=)
|
|
|
NM_017570.5(OPLAH):c.1140C>T (p.Pro380=)
|
|
|
NM_017570.5(OPLAH):c.1149C>T (p.Tyr383=)
|
|
|
NM_017570.5(OPLAH):c.1156+15C>T
|
|
|
NM_017570.5(OPLAH):c.1156+4A>G
|
|
|
NM_017570.5(OPLAH):c.1156G>T (p.Gly386Trp)
|
|
|
NM_017570.5(OPLAH):c.1199G>A (p.Arg400His)
|
|
|
NM_017570.5(OPLAH):c.1244A>C (p.Asn415Thr)
|
rs2129817333
|
|
NM_017570.5(OPLAH):c.1258C>T (p.Pro420Ser)
|
rs1564292461
|
|
NM_017570.5(OPLAH):c.1278C>T (p.Ala426=)
|
|
|
NM_017570.5(OPLAH):c.1320C>T (p.Asn440=)
|
|
|
NM_017570.5(OPLAH):c.1331C>T (p.Pro444Leu)
|
|
|
NM_017570.5(OPLAH):c.1347C>A (p.Ser449Arg)
|
|
|
NM_017570.5(OPLAH):c.1363A>G (p.Met455Val)
|
|
|
NM_017570.5(OPLAH):c.1376G>A (p.Arg459His)
|
|
|
NM_017570.5(OPLAH):c.1377C>T (p.Arg459=)
|
|
|
NM_017570.5(OPLAH):c.1385A>G (p.Asn462Ser)
|
rs782662415
|
|
NM_017570.5(OPLAH):c.1409G>A (p.Arg470His)
|
|
|
NM_017570.5(OPLAH):c.1414C>T (p.Leu472Phe)
|
|
|
NM_017570.5(OPLAH):c.1418C>T (p.Thr473Met)
|
|
|
NM_017570.5(OPLAH):c.1422+16C>T
|
|
|
NM_017570.5(OPLAH):c.1423-5C>T
|
|
|
NM_017570.5(OPLAH):c.1431C>T (p.Gly477=)
|
|
|
NM_017570.5(OPLAH):c.1455G>A (p.Leu485=)
|
|
|
NM_017570.5(OPLAH):c.147A>G (p.Glu49=)
|
rs2129848675
|
|
NM_017570.5(OPLAH):c.1513A>G (p.Met505Val)
|
|
|
NM_017570.5(OPLAH):c.1521G>A (p.Thr507=)
|
|
|
NM_017570.5(OPLAH):c.1527C>T (p.His509=)
|
|
|
NM_017570.5(OPLAH):c.1535+16G>A
|
|
|
NM_017570.5(OPLAH):c.1535+3G>T
|
|
|
NM_017570.5(OPLAH):c.1561G>A (p.Gly521Arg)
|
|
|
NM_017570.5(OPLAH):c.157C>T (p.Arg53Cys)
|
rs200381383
|
|
NM_017570.5(OPLAH):c.1584G>A (p.Val528=)
|
|
|
NM_017570.5(OPLAH):c.1600C>T (p.Pro534Ser)
|
|
|
NM_017570.5(OPLAH):c.1652T>G (p.Leu551Arg)
|
rs2129808075
|
|
NM_017570.5(OPLAH):c.1652del (p.Leu551fs)
|
|
|
NM_017570.5(OPLAH):c.1658G>A (p.Arg553His)
|
|
|
NM_017570.5(OPLAH):c.1667A>G (p.Glu556Gly)
|
|
|
NM_017570.5(OPLAH):c.1680T>G (p.Asp560Glu)
|
rs1564291499
|
|
NM_017570.5(OPLAH):c.1690_1706+6dup
|
|
|
NM_017570.5(OPLAH):c.169C>T (p.Gln57Ter)
|
|
|
NM_017570.5(OPLAH):c.171+12C>T
|
|
|
NM_017570.5(OPLAH):c.171+13G>A
|
|
|
NM_017570.5(OPLAH):c.172-5C>T
|
|
|
NM_017570.5(OPLAH):c.1731C>T (p.Phe577=)
|
|
|
NM_017570.5(OPLAH):c.1802G>A (p.Arg601His)
|
|
|
NM_017570.5(OPLAH):c.1824C>T (p.Phe608=)
|
|
|
NM_017570.5(OPLAH):c.1843C>T (p.Arg615Trp)
|
|
|
NM_017570.5(OPLAH):c.1844+18T>G
|
|
|
NM_017570.5(OPLAH):c.1844+8G>C
|
|
|
NM_017570.5(OPLAH):c.1845-14C>T
|
|
|
NM_017570.5(OPLAH):c.1845-20G>A
|
|
|
NM_017570.5(OPLAH):c.1862G>T (p.Gly621Val)
|
|
|
NM_017570.5(OPLAH):c.1880G>A (p.Arg627Gln)
|
|
|
NM_017570.5(OPLAH):c.1883C>T (p.Pro628Leu)
|
|
|
NM_017570.5(OPLAH):c.1897G>A (p.Asp633Asn)
|
|
|
NM_017570.5(OPLAH):c.1924A>T (p.Ser642Cys)
|
|
|
NM_017570.5(OPLAH):c.193C>G (p.Arg65Gly)
|
rs782494513
|
|
NM_017570.5(OPLAH):c.1962C>T (p.Thr654=)
|
rs782092076
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NM_017570.5(OPLAH):c.1963G>A (p.Gly655Arg)
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NM_017570.5(OPLAH):c.1971C>T (p.Pro657=)
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NM_017570.5(OPLAH):c.2004G>A (p.Glu668=)
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NM_017570.5(OPLAH):c.2007G>C (p.Gly669=)
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NM_017570.5(OPLAH):c.203C>T (p.Pro68Leu)
|
rs540750311
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NM_017570.5(OPLAH):c.2043G>A (p.Glu681=)
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NM_017570.5(OPLAH):c.204G>A (p.Pro68=)
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NM_017570.5(OPLAH):c.206_251dup (p.Thr85fs)
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NM_017570.5(OPLAH):c.2076C>A (p.Cys692Ter)
|
rs781977956
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NM_017570.5(OPLAH):c.2096+15G>A
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NM_017570.5(OPLAH):c.2097-20C>G
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NM_017570.5(OPLAH):c.2190C>T (p.Gly730=)
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NM_017570.5(OPLAH):c.2232C>G (p.Arg744=)
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NM_017570.5(OPLAH):c.2238G>A (p.Met746Ile)
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NM_017570.5(OPLAH):c.2248+11G>A
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NM_017570.5(OPLAH):c.2260C>T (p.Arg754Cys)
|
rs201623019
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NM_017570.5(OPLAH):c.2281A>G (p.Ile761Val)
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NM_017570.5(OPLAH):c.2334C>T (p.Pro778=)
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NM_017570.5(OPLAH):c.2338G>A (p.Gly780Arg)
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NM_017570.5(OPLAH):c.2344C>A (p.Leu782Met)
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NM_017570.5(OPLAH):c.235A>C (p.Met79Leu)
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NM_017570.5(OPLAH):c.2362dup (p.His788fs)
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NM_017570.5(OPLAH):c.2442C>T (p.Gly814=)
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NM_017570.5(OPLAH):c.2454G>T (p.Leu818=)
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NM_017570.5(OPLAH):c.2510C>T (p.Pro837Leu)
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NM_017570.5(OPLAH):c.2512-19G>A
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NM_017570.5(OPLAH):c.2512-5G>A
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NM_017570.5(OPLAH):c.2514G>A (p.Val838=)
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NM_017570.5(OPLAH):c.2534G>A (p.Arg845Gln)
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NM_017570.5(OPLAH):c.2534G>C (p.Arg845Pro)
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NM_017570.5(OPLAH):c.2539G>A (p.Val847Met)
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NM_017570.5(OPLAH):c.2588C>T (p.Thr863Ile)
|
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NM_017570.5(OPLAH):c.2608dup (p.His870fs)
|
rs781956288
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NM_017570.5(OPLAH):c.2665G>A (p.Gly889Arg)
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NM_017570.5(OPLAH):c.2669G>C (p.Gly890Ala)
|
rs781927871
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NM_017570.5(OPLAH):c.2669del (p.Gly890fs)
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NM_017570.5(OPLAH):c.2677C>T (p.Gln893Ter)
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NM_017570.5(OPLAH):c.2686+1G>T
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NM_017570.5(OPLAH):c.2687C>T (p.Ala896Val)
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NM_017570.5(OPLAH):c.2705G>A (p.Arg902Gln)
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NM_017570.5(OPLAH):c.2722C>T (p.Pro908Ser)
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NM_017570.5(OPLAH):c.2728T>A (p.Cys910Ser)
|
rs2129764172
|
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NM_017570.5(OPLAH):c.2733C>T (p.Ser911=)
|
|
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NM_017570.5(OPLAH):c.2770C>T (p.Arg924Cys)
|
rs147874057
|
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NM_017570.5(OPLAH):c.2841C>T (p.Asp947=)
|
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NM_017570.5(OPLAH):c.2871+13A>C
|
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NM_017570.5(OPLAH):c.2872-4C>T
|
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NM_017570.5(OPLAH):c.2905C>T (p.Arg969Cys)
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NM_017570.5(OPLAH):c.2952G>A (p.Val984=)
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NM_017570.5(OPLAH):c.2975A>C (p.Asp992Ala)
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NM_017570.5(OPLAH):c.2981C>T (p.Ser994Phe)
|
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NM_017570.5(OPLAH):c.2987dup (p.Arg997fs)
|
rs781818673
|
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NM_017570.5(OPLAH):c.2989C>T (p.Arg997Cys)
|
rs200620019
|
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NM_017570.5(OPLAH):c.3018+18T>C
|
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NM_017570.5(OPLAH):c.3019-14C>T
|
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NM_017570.5(OPLAH):c.3019-2A>G
|
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NM_017570.5(OPLAH):c.3036C>T (p.Asp1012=)
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NM_017570.5(OPLAH):c.3117G>T (p.Leu1039=)
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NM_017570.5(OPLAH):c.3154-12C>T
|
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NM_017570.5(OPLAH):c.3154-20G>T
|
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NM_017570.5(OPLAH):c.3164C>T (p.Ala1055Val)
|
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NM_017570.5(OPLAH):c.3165G>A (p.Ala1055=)
|
rs28428956
|
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NM_017570.5(OPLAH):c.3177G>C (p.Val1059=)
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NM_017570.5(OPLAH):c.3249_3250delinsTT (p.Gln1084Ter)
|
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NM_017570.5(OPLAH):c.3254G>C (p.Arg1085Pro)
|
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NM_017570.5(OPLAH):c.3278C>T (p.Ala1093Val)
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NM_017570.5(OPLAH):c.3303+9G>T
|
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NM_017570.5(OPLAH):c.3304-10C>T
|
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NM_017570.5(OPLAH):c.3304-11G>A
|
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NM_017570.5(OPLAH):c.3311T>C (p.Met1104Thr)
|
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|
NM_017570.5(OPLAH):c.3327G>A (p.Leu1109=)
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|
NM_017570.5(OPLAH):c.3352G>C (p.Glu1118Gln)
|
rs1426386645
|
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NM_017570.5(OPLAH):c.3362C>A (p.Ala1121Glu)
|
|
|
NM_017570.5(OPLAH):c.3372G>A (p.Ala1124=)
|
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NM_017570.5(OPLAH):c.3461+15C>T
|
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NM_017570.5(OPLAH):c.3461+17G>A
|
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NM_017570.5(OPLAH):c.3462-4G>A
|
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NM_017570.5(OPLAH):c.3508G>A (p.Gly1170Ser)
|
|
|
NM_017570.5(OPLAH):c.3512G>C (p.Arg1171Thr)
|
rs2129743421
|
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NM_017570.5(OPLAH):c.3516C>A (p.Gly1172=)
|
|
|
NM_017570.5(OPLAH):c.3518G>A (p.Arg1173His)
|
rs782094303
|
|
NM_017570.5(OPLAH):c.3558T>C (p.Phe1186=)
|
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|
NM_017570.5(OPLAH):c.3559C>T (p.Arg1187Cys)
|
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NM_017570.5(OPLAH):c.35T>C (p.Ile12Thr)
|
rs2129850356
|
|
NM_017570.5(OPLAH):c.3612C>G (p.Tyr1204Ter)
|
|
|
NM_017570.5(OPLAH):c.3623-13C>G
|
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|
NM_017570.5(OPLAH):c.363+3G>A
|
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NM_017570.5(OPLAH):c.3640C>T (p.Arg1214Cys)
|
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|
NM_017570.5(OPLAH):c.370C>T (p.Pro124Ser)
|
|
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NM_017570.5(OPLAH):c.3717C>T (p.Pro1239=)
|
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|
NM_017570.5(OPLAH):c.3721-11del
|
|
|
NM_017570.5(OPLAH):c.3721-11dup
|
rs782568024
|
|
NM_017570.5(OPLAH):c.3721-12C>G
|
|
|
NM_017570.5(OPLAH):c.3721-13C>T
|
rs782765595
|
|
NM_017570.5(OPLAH):c.3721-15C>A
|
|
|
NM_017570.5(OPLAH):c.3721-16C>G
|
rs566592895
|
|
NM_017570.5(OPLAH):c.3721-20G>C
|
rs28433482
|
|
NM_017570.5(OPLAH):c.3721-20_3721-18del
|
rs782715961
|
|
NM_017570.5(OPLAH):c.3721-20_3721-19del
|
rs781891990
|
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NM_017570.5(OPLAH):c.3745G>C (p.Gly1249Arg)
|
|
|
NM_017570.5(OPLAH):c.3753T>C (p.Gly1251=)
|
rs1587548662
|
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NM_017570.5(OPLAH):c.378T>G (p.Pro126=)
|
rs1587567078
|
|
NM_017570.5(OPLAH):c.3822G>A (p.Glu1274=)
|
|
|
NM_017570.5(OPLAH):c.3823C>T (p.His1275Tyr)
|
|
|
NM_017570.5(OPLAH):c.3831C>T (p.Ser1277=)
|
|
|
NM_017570.5(OPLAH):c.415C>T (p.Arg139Cys)
|
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|
NM_017570.5(OPLAH):c.447C>T (p.Thr149=)
|
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|
NM_017570.5(OPLAH):c.453G>A (p.Thr151=)
|
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|
NM_017570.5(OPLAH):c.463+14C>T
|
|
|
NM_017570.5(OPLAH):c.463G>A (p.Gly155Ser)
|
|
|
NM_017570.5(OPLAH):c.466C>T (p.Arg156Cys)
|
|
|
NM_017570.5(OPLAH):c.491A>G (p.Gln164Arg)
|
|
|
NM_017570.5(OPLAH):c.493C>T (p.Gln165Ter)
|
rs1835598414
|
|
NM_017570.5(OPLAH):c.501G>T (p.Val167=)
|
|
|
NM_017570.5(OPLAH):c.533G>A (p.Gly178Glu)
|
|
|
NM_017570.5(OPLAH):c.540A>G (p.Leu180=)
|
|
|
NM_017570.5(OPLAH):c.553C>T (p.Arg185Cys)
|
|
|
NM_017570.5(OPLAH):c.554G>T (p.Arg185Leu)
|
|
|
NM_017570.5(OPLAH):c.567G>A (p.Val189=)
|
|
|
NM_017570.5(OPLAH):c.587+10G>A
|
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|
NM_017570.5(OPLAH):c.654G>A (p.Leu218=)
|
|
|
NM_017570.5(OPLAH):c.684C>T (p.Ile228=)
|
|
|
NM_017570.5(OPLAH):c.702G>A (p.Thr234=)
|
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|
NM_017570.5(OPLAH):c.711C>T (p.Ala237=)
|
|
|
NM_017570.5(OPLAH):c.718T>C (p.Tyr240His)
|
|
|
NM_017570.5(OPLAH):c.730G>A (p.Ala244Thr)
|
|
|
NM_017570.5(OPLAH):c.744C>T (p.Tyr248=)
|
|
|
NM_017570.5(OPLAH):c.783+14G>C
|
|
|
NM_017570.5(OPLAH):c.784-20C>T
|
|
|
NM_017570.5(OPLAH):c.784-9C>T
|
|
|
NM_017570.5(OPLAH):c.810C>T (p.Ser270=)
|
|
|
NM_017570.5(OPLAH):c.811G>A (p.Asp271Asn)
|
|
|
NM_017570.5(OPLAH):c.843C>G (p.Ser281Arg)
|
rs549502677
|
|
NM_017570.5(OPLAH):c.843C>T (p.Ser281=)
|
|
|
NM_017570.5(OPLAH):c.859C>T (p.Leu287Phe)
|
|
|
NM_017570.5(OPLAH):c.863C>T (p.Ser288Leu)
|
|
|
NM_017570.5(OPLAH):c.864G>A (p.Ser288=)
|
|
|
NM_017570.5(OPLAH):c.869C>T (p.Pro290Leu)
|
|
|
NM_017570.5(OPLAH):c.870G>A (p.Pro290=)
|
|
|
NM_017570.5(OPLAH):c.874G>A (p.Gly292Ser)
|
|
|
NM_017570.5(OPLAH):c.876C>T (p.Gly292=)
|
|
|
NM_017570.5(OPLAH):c.893C>G (p.Ser298Ter)
|
rs1554759918
|
|
NM_017570.5(OPLAH):c.902C>G (p.Thr301Ser)
|
|
|
NM_017570.5(OPLAH):c.928G>C (p.Val310Leu)
|
rs782711808
|
|
NM_017570.5(OPLAH):c.934G>A (p.Gly312Ser)
|
|
|
NM_017570.5(OPLAH):c.950-17C>T
|
|
|
NM_017570.5(OPLAH):c.960G>T (p.Thr320=)
|
rs375010602
|
|
NM_017570.5(OPLAH):c.969C>A (p.Ser323Arg)
|
rs398122906
|
|
NM_017570.5(OPLAH):c.988G>A (p.Glu330Lys)
|
|
|