NM_001080414.4(CCDC88C):c.1527+128A>G
|
rs1285766
|
0.98802
|
NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro)
|
rs941920
|
0.90936
|
NM_001080414.4(CCDC88C):c.61-85T>G
|
rs1285844
|
0.87759
|
NM_001080414.4(CCDC88C):c.484-220A>G
|
rs1742562
|
0.78617
|
NM_001080414.4(CCDC88C):c.4630+78G>T
|
rs2277509
|
0.65846
|
NM_001080414.4(CCDC88C):c.3966+12G>A
|
rs3742656
|
0.56935
|
NM_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=)
|
rs1970912
|
0.56314
|
NM_001080414.4(CCDC88C):c.4107G>A (p.Gln1369=)
|
rs12891713
|
0.21964
|
NM_001080414.4(CCDC88C):c.4113-114A>G
|
rs3825658
|
0.18138
|
NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=)
|
rs45437097
|
0.16963
|
NM_001080414.4(CCDC88C):c.270+47A>G
|
rs2295882
|
0.16955
|
NM_001080414.4(CCDC88C):c.3083C>T (p.Ala1028Val)
|
rs1970911
|
0.13546
|
NM_001080414.4(CCDC88C):c.400-47A>G
|
rs747053
|
0.08874
|
NM_001080414.4(CCDC88C):c.5058+33C>G
|
rs17796691
|
0.08423
|
NM_001080414.4(CCDC88C):c.1527+167T>C
|
rs11629007
|
0.08349
|
NM_001080414.4(CCDC88C):c.1527+43T>C
|
rs11629048
|
0.08019
|
NM_001080414.4(CCDC88C):c.1528-4G>A
|
rs10134588
|
0.06228
|
NM_001080414.4(CCDC88C):c.483+34G>A
|
rs62621190
|
0.05656
|
NM_001080414.4(CCDC88C):c.1131C>T (p.Gly377=)
|
rs17127245
|
0.05435
|
NM_001080414.4(CCDC88C):c.627G>A (p.Leu209=)
|
rs61220159
|
0.03550
|
NM_001080414.4(CCDC88C):c.1020C>T (p.His340=)
|
rs17127255
|
0.03466
|
NM_001080414.4(CCDC88C):c.4700-145G>C
|
rs45458291
|
0.03232
|
NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=)
|
rs150512553
|
0.02576
|
NM_001080414.4(CCDC88C):c.2736+239G>A
|
rs7151428
|
0.02285
|
NM_001080414.4(CCDC88C):c.2737-95G>A
|
rs7155141
|
0.02264
|
NM_001080414.4(CCDC88C):c.2737-221T>C
|
rs7155180
|
0.02262
|
NM_001080414.4(CCDC88C):c.3372G>A (p.Thr1124=)
|
rs112741231
|
0.02197
|
NM_001080414.4(CCDC88C):c.1773G>A (p.Glu591=)
|
rs7160325
|
0.02005
|
NM_001080414.4(CCDC88C):c.1909C>G (p.Leu637Val)
|
rs7160308
|
0.01989
|
NM_001080414.4(CCDC88C):c.3196-39A>C
|
rs10147712
|
0.01948
|
NM_001080414.4(CCDC88C):c.4768+187C>T
|
rs147375675
|
0.01899
|
NM_001080414.4(CCDC88C):c.3393G>T (p.Ala1131=)
|
rs73336474
|
0.01848
|
NM_001080414.4(CCDC88C):c.3636-14C>T
|
rs112211533
|
0.01710
|
NM_001080414.4(CCDC88C):c.3357+39C>T
|
rs115618934
|
0.01698
|
NM_001080414.4(CCDC88C):c.1198-34A>G
|
rs76140190
|
0.01557
|
NM_001080414.4(CCDC88C):c.2432C>A (p.Ala811Glu)
|
rs17127223
|
0.01535
|
NM_001080414.4(CCDC88C):c.5948G>C (p.Gly1983Ala)
|
rs45542736
|
0.01509
|
NM_001080414.4(CCDC88C):c.809+11G>A
|
rs115661164
|
0.01394
|
NM_001080414.4(CCDC88C):c.3969G>A (p.Leu1323=)
|
rs8017119
|
0.01028
|
NM_001080414.4(CCDC88C):c.4631-36C>T
|
rs75450253
|
0.01017
|
NM_001080414.4(CCDC88C):c.4631-50G>A
|
rs74962163
|
0.01015
|
NM_001080414.4(CCDC88C):c.2736+16C>T
|
rs112579678
|
0.01000
|
NM_001080414.4(CCDC88C):c.2204G>A (p.Arg735His)
|
rs114142372
|
0.00949
|
NM_001080414.4(CCDC88C):c.5761G>A (p.Gly1921Ser)
|
rs61741396
|
0.00769
|
NM_001080414.4(CCDC88C):c.4976G>A (p.Arg1659Gln)
|
rs114849211
|
0.00739
|
NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly)
|
rs45560241
|
0.00650
|
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala)
|
rs201222692
|
0.00627
|
NM_001080414.4(CCDC88C):c.5183T>C (p.Phe1728Ser)
|
rs7145583
|
0.00602
|
NM_001080414.4(CCDC88C):c.754C>G (p.Leu252Val)
|
rs61745576
|
0.00602
|
NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=)
|
rs11851173
|
0.00565
|
NM_001080414.4(CCDC88C):c.3419A>G (p.Gln1140Arg)
|
rs116571924
|
0.00545
|
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=)
|
rs139544500
|
0.00494
|
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln)
|
rs61745465
|
0.00451
|
NM_001080414.4(CCDC88C):c.912C>T (p.Asp304=)
|
rs61736349
|
0.00446
|
NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys)
|
rs142539336
|
0.00436
|
NM_001080414.4(CCDC88C):c.3828C>T (p.His1276=)
|
rs150996350
|
0.00404
|
NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His)
|
rs115510695
|
0.00383
|
NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu)
|
rs202217944
|
0.00330
|
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=)
|
rs146028766
|
0.00326
|
NM_001080414.4(CCDC88C):c.891+8G>A
|
rs11851272
|
0.00323
|
NM_001080414.4(CCDC88C):c.766C>T (p.Leu256=)
|
rs183742506
|
0.00293
|
NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=)
|
rs61737660
|
0.00287
|
NM_001080414.4(CCDC88C):c.5654G>A (p.Arg1885His)
|
rs61742126
|
0.00262
|
NM_001080414.4(CCDC88C):c.4707G>A (p.Arg1569=)
|
rs145210051
|
0.00218
|
NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg)
|
rs200543687
|
0.00216
|
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro)
|
rs77154172
|
0.00212
|
NM_001080414.4(CCDC88C):c.905C>T (p.Ala302Val)
|
rs558656599
|
0.00189
|
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=)
|
rs200979954
|
0.00175
|
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile)
|
rs142295786
|
0.00150
|
NM_001080414.4(CCDC88C):c.5296G>A (p.Val1766Met)
|
rs201931182
|
0.00138
|
NM_001080414.4(CCDC88C):c.3900C>T (p.Phe1300=)
|
rs199536020
|
0.00136
|
NM_001080414.4(CCDC88C):c.1665+8C>T
|
rs367983032
|
0.00135
|
NM_001080414.4(CCDC88C):c.4327G>A (p.Ala1443Thr)
|
rs189215037
|
0.00133
|
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser)
|
rs201044013
|
0.00125
|
NM_001080414.4(CCDC88C):c.3260A>G (p.Asn1087Ser)
|
rs143691366
|
0.00113
|
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly)
|
rs61743881
|
0.00107
|
NM_001080414.4(CCDC88C):c.1878G>C (p.Lys626Asn)
|
rs78468999
|
0.00105
|
NM_001080414.4(CCDC88C):c.2640G>A (p.Arg880=)
|
rs117305675
|
0.00103
|
NM_001080414.4(CCDC88C):c.483+8C>T
|
rs201193446
|
0.00102
|
NM_001080414.4(CCDC88C):c.5390G>A (p.Arg1797His)
|
rs201814255
|
0.00096
|
NM_001080414.4(CCDC88C):c.1527+8G>A
|
rs151228192
|
0.00084
|
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)
|
rs200650758
|
0.00081
|
NM_001080414.4(CCDC88C):c.3640G>A (p.Gly1214Ser)
|
rs183646530
|
0.00079
|
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu)
|
rs201940261
|
0.00078
|
NM_001080414.4(CCDC88C):c.5906C>T (p.Pro1969Leu)
|
rs138924295
|
0.00075
|
NM_001080414.4(CCDC88C):c.534C>T (p.Pro178=)
|
rs371212105
|
0.00071
|
NM_001080414.4(CCDC88C):c.5335C>T (p.Leu1779=)
|
rs374865760
|
0.00069
|
NM_001080414.4(CCDC88C):c.4768+6T>C
|
rs183312399
|
0.00068
|
NM_001080414.4(CCDC88C):c.4224C>T (p.Ala1408=)
|
rs201474423
|
0.00065
|
NM_001080414.4(CCDC88C):c.3779+10G>A
|
rs373085276
|
0.00061
|
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)
|
rs201414940
|
0.00057
|
NM_001080414.4(CCDC88C):c.2370C>T (p.Gly790=)
|
rs200603686
|
0.00056
|
NM_001080414.4(CCDC88C):c.400-5C>T
|
rs370643702
|
0.00056
|
NM_001080414.4(CCDC88C):c.5381C>G (p.Pro1794Arg)
|
rs200077683
|
0.00055
|
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln)
|
rs200769097
|
0.00053
|
NM_001080414.4(CCDC88C):c.3981C>T (p.Leu1327=)
|
rs201259963
|
0.00048
|
NM_001080414.4(CCDC88C):c.4673T>C (p.Phe1558Ser)
|
rs201391511
|
0.00048
|
NM_001080414.4(CCDC88C):c.2255A>G (p.Lys752Arg)
|
rs199967225
|
0.00043
|
NM_001080414.4(CCDC88C):c.1715C>T (p.Ser572Leu)
|
rs200999247
|
0.00041
|
NM_001080414.4(CCDC88C):c.271-9T>C
|
rs200240362
|
0.00039
|
NM_001080414.4(CCDC88C):c.4621C>T (p.Arg1541Cys)
|
rs151102993
|
0.00038
|
NM_001080414.4(CCDC88C):c.987G>A (p.Glu329=)
|
rs139506400
|
0.00037
|
NM_001080414.4(CCDC88C):c.3657C>T (p.Arg1219=)
|
rs201969326
|
0.00036
|
NM_001080414.4(CCDC88C):c.4375G>A (p.Asp1459Asn)
|
rs78570354
|
0.00035
|
NM_001080414.4(CCDC88C):c.4173A>G (p.Gln1391=)
|
rs150323220
|
0.00032
|
NM_001080414.4(CCDC88C):c.5934G>A (p.Pro1978=)
|
rs200816634
|
0.00030
|
NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser)
|
rs61745604
|
0.00029
|
NM_001080414.4(CCDC88C):c.273A>G (p.Glu91=)
|
rs199846951
|
0.00024
|
NM_001080414.4(CCDC88C):c.2181G>A (p.Glu727=)
|
rs201609345
|
0.00021
|
NM_001080414.4(CCDC88C):c.6024T>C (p.Ser2008=)
|
rs372767405
|
0.00021
|
NM_001080414.4(CCDC88C):c.702C>T (p.Ala234=)
|
rs188457701
|
0.00021
|
NM_001080414.4(CCDC88C):c.925C>T (p.Arg309Cys)
|
rs767030060
|
0.00021
|
NM_001080414.4(CCDC88C):c.4852C>T (p.Arg1618Trp)
|
rs573820836
|
0.00019
|
NM_001080414.4(CCDC88C):c.1962G>A (p.Leu654=)
|
rs61746076
|
0.00018
|
NM_001080414.4(CCDC88C):c.2289C>T (p.Ser763=)
|
rs371690660
|
0.00018
|
NM_001080414.4(CCDC88C):c.1374C>T (p.Asn458=)
|
rs373669989
|
0.00016
|
NM_001080414.4(CCDC88C):c.2958G>A (p.Met986Ile)
|
rs182438780
|
0.00016
|
NM_001080414.4(CCDC88C):c.3464G>C (p.Arg1155Thr)
|
rs763025338
|
0.00016
|
NM_001080414.4(CCDC88C):c.3474G>A (p.Glu1158=)
|
rs369409841
|
0.00016
|
NM_001080414.4(CCDC88C):c.1050+9C>T
|
rs372411289
|
0.00015
|
NM_001080414.4(CCDC88C):c.5635C>T (p.Arg1879Trp)
|
rs567110504
|
0.00014
|
NM_001080414.4(CCDC88C):c.3663G>A (p.Ala1221=)
|
rs368871964
|
0.00013
|
NM_001080414.4(CCDC88C):c.5510G>A (p.Gly1837Asp)
|
rs776764078
|
0.00013
|
NM_001080414.4(CCDC88C):c.1158G>C (p.Glu386Asp)
|
rs142378431
|
0.00011
|
NM_001080414.4(CCDC88C):c.1885C>T (p.Arg629Trp)
|
rs373032669
|
0.00011
|
NM_001080414.4(CCDC88C):c.3129C>T (p.Pro1043=)
|
rs371072936
|
0.00011
|
NM_001080414.4(CCDC88C):c.3779+9C>T
|
rs774262235
|
0.00011
|
NM_001080414.4(CCDC88C):c.4377C>T (p.Asp1459=)
|
rs377506651
|
0.00011
|
NM_001080414.4(CCDC88C):c.4412G>A (p.Arg1471His)
|
rs201606038
|
0.00011
|
NM_001080414.4(CCDC88C):c.5112C>T (p.Ser1704=)
|
rs199730476
|
0.00011
|
NM_001080414.4(CCDC88C):c.5331G>C (p.Leu1777=)
|
rs759310053
|
0.00011
|
NM_001080414.4(CCDC88C):c.5626C>G (p.Pro1876Ala)
|
rs771761723
|
0.00011
|
NM_001080414.4(CCDC88C):c.3596A>G (p.His1199Arg)
|
rs759543877
|
0.00010
|
NM_001080414.4(CCDC88C):c.3249G>A (p.Leu1083=)
|
rs374855208
|
0.00009
|
NM_001080414.4(CCDC88C):c.336G>A (p.Leu112=)
|
rs142197686
|
0.00008
|
NM_001080414.4(CCDC88C):c.4383C>G (p.Pro1461=)
|
rs374856540
|
0.00008
|
NM_001080414.4(CCDC88C):c.5102G>A (p.Arg1701Gln)
|
rs768365233
|
0.00008
|
NM_001080414.4(CCDC88C):c.2118C>T (p.Asn706=)
|
rs374280851
|
0.00007
|
NM_001080414.4(CCDC88C):c.3357+6C>T
|
rs141300137
|
0.00007
|
NM_001080414.4(CCDC88C):c.6043G>A (p.Gly2015Ser)
|
rs367905673
|
0.00007
|
NM_001080414.4(CCDC88C):c.1666-5C>T
|
rs776976640
|
0.00006
|
NM_001080414.4(CCDC88C):c.1680G>A (p.Glu560=)
|
rs186738597
|
0.00006
|
NM_001080414.4(CCDC88C):c.2568C>T (p.Asp856=)
|
rs371010464
|
0.00006
|
NM_001080414.4(CCDC88C):c.3028C>T (p.Leu1010Phe)
|
rs201763869
|
0.00006
|
NM_001080414.4(CCDC88C):c.3345C>T (p.Thr1115=)
|
rs17127220
|
0.00006
|
NM_001080414.4(CCDC88C):c.4026C>A (p.Ile1342=)
|
rs377320239
|
0.00006
|
NM_001080414.4(CCDC88C):c.2613G>A (p.Ala871=)
|
rs760184659
|
0.00005
|
NM_001080414.4(CCDC88C):c.5836C>T (p.Arg1946Cys)
|
rs371862576
|
0.00005
|
NM_001080414.4(CCDC88C):c.1126C>T (p.Arg376Trp)
|
rs754564295
|
0.00004
|
NM_001080414.4(CCDC88C):c.1341C>T (p.Asp447=)
|
rs200285250
|
0.00004
|
NM_001080414.4(CCDC88C):c.2148G>A (p.Met716Ile)
|
rs781492751
|
0.00004
|
NM_001080414.4(CCDC88C):c.5059-4G>A
|
rs571920001
|
0.00004
|
NM_001080414.4(CCDC88C):c.5805G>A (p.Pro1935=)
|
rs748722869
|
0.00004
|
NM_001080414.4(CCDC88C):c.708C>T (p.Ser236=)
|
rs745338278
|
0.00004
|
NM_001080414.4(CCDC88C):c.809+7C>T
|
rs575390201
|
0.00004
|
NM_001080414.4(CCDC88C):c.956G>A (p.Arg319Gln)
|
rs772125931
|
0.00004
|
NM_001080414.4(CCDC88C):c.1343-9T>C
|
rs1028092022
|
0.00003
|
NM_001080414.4(CCDC88C):c.3358-6C>G
|
rs375400399
|
0.00003
|
NM_001080414.4(CCDC88C):c.372G>A (p.Leu124=)
|
rs373719057
|
0.00003
|
NM_001080414.4(CCDC88C):c.4113-19C>T
|
rs560507685
|
0.00003
|
NM_001080414.4(CCDC88C):c.1088A>G (p.Lys363Arg)
|
rs1939770290
|
0.00002
|
NM_001080414.4(CCDC88C):c.3543A>G (p.Gln1181=)
|
rs759631877
|
0.00002
|
NM_001080414.4(CCDC88C):c.4512C>T (p.Thr1504=)
|
rs760856363
|
0.00002
|
NM_001080414.4(CCDC88C):c.462C>T (p.Gly154=)
|
rs779046050
|
0.00002
|
NM_001080414.4(CCDC88C):c.4689C>T (p.His1563=)
|
rs773950992
|
0.00002
|
NM_001080414.4(CCDC88C):c.4969G>A (p.Gly1657Arg)
|
rs769028445
|
0.00002
|
NM_001080414.4(CCDC88C):c.5639C>T (p.Pro1880Leu)
|
rs749124708
|
0.00002
|
NM_001080414.4(CCDC88C):c.891+7C>T
|
rs749044163
|
0.00002
|
NM_001080414.4(CCDC88C):c.971G>A (p.Arg324His)
|
rs535703162
|
0.00002
|
NM_001080414.4(CCDC88C):c.1342+9C>T
|
rs370624081
|
0.00001
|
NM_001080414.4(CCDC88C):c.1794G>A (p.Thr598=)
|
rs373532637
|
0.00001
|
NM_001080414.4(CCDC88C):c.2814C>T (p.Val938=)
|
rs541553736
|
0.00001
|
NM_001080414.4(CCDC88C):c.308A>G (p.Asn103Ser)
|
rs1455378745
|
0.00001
|
NM_001080414.4(CCDC88C):c.3636-4A>G
|
rs777592906
|
0.00001
|
NM_001080414.4(CCDC88C):c.3904G>A (p.Glu1302Lys)
|
rs761146967
|
0.00001
|
NM_001080414.4(CCDC88C):c.425A>G (p.Glu142Gly)
|
rs1064796828
|
0.00001
|
NM_001080414.4(CCDC88C):c.4366G>A (p.Glu1456Lys)
|
rs781760635
|
0.00001
|
NM_001080414.4(CCDC88C):c.4618G>C (p.Gly1540Arg)
|
rs752041919
|
0.00001
|
NM_001080414.4(CCDC88C):c.4864A>G (p.Thr1622Ala)
|
rs1014956719
|
0.00001
|
NM_001080414.4(CCDC88C):c.5284G>A (p.Ala1762Thr)
|
rs201104260
|
0.00001
|
NM_001080414.4(CCDC88C):c.615G>A (p.Glu205=)
|
rs931694103
|
0.00001
|
NM_001080414.4(CCDC88C):c.621C>T (p.Thr207=)
|
rs202080335
|
0.00001
|
NM_001080414.4(CCDC88C):c.755dup (p.Ala253fs)
|
rs1555422946
|
0.00001
|
NM_001080414.4(CCDC88C):c.972C>T (p.Arg324=)
|
rs756666611
|
0.00001
|
NC_000014.8:g.(?_91760517)_(91846247_?)dup
|
|
|
NM_001080414.4(CCDC88C):c.1001G>A (p.Arg334His)
|
|
|
NM_001080414.4(CCDC88C):c.1002C>T (p.Arg334=)
|
|
|
NM_001080414.4(CCDC88C):c.1015C>T (p.Leu339=)
|
|
|
NM_001080414.4(CCDC88C):c.1017G>A (p.Leu339=)
|
|
|
NM_001080414.4(CCDC88C):c.1023C>T (p.Asp341=)
|
|
|
NM_001080414.4(CCDC88C):c.103C>T (p.Leu35=)
|
|
|
NM_001080414.4(CCDC88C):c.1041C>T (p.Ala347=)
|
|
|
NM_001080414.4(CCDC88C):c.1050+11T>C
|
|
|
NM_001080414.4(CCDC88C):c.1050+13G>T
|
|
|
NM_001080414.4(CCDC88C):c.1050+15T>C
|
|
|
NM_001080414.4(CCDC88C):c.1050+16G>A
|
|
|
NM_001080414.4(CCDC88C):c.1050+16dup
|
|
|
NM_001080414.4(CCDC88C):c.1050+19A>G
|
|
|
NM_001080414.4(CCDC88C):c.1050+20G>C
|
|
|
NM_001080414.4(CCDC88C):c.1050+6dup
|
|
|
NM_001080414.4(CCDC88C):c.1050+8G>A
|
|
|
NM_001080414.4(CCDC88C):c.1050+9C>A
|
|
|
NM_001080414.4(CCDC88C):c.1050+9C>G
|
|
|
NM_001080414.4(CCDC88C):c.1051-10T>G
|
|
|
NM_001080414.4(CCDC88C):c.1051-13T>G
|
|
|
NM_001080414.4(CCDC88C):c.1051-15G>A
|
|
|
NM_001080414.4(CCDC88C):c.1051-16T>A
|
|
|
NM_001080414.4(CCDC88C):c.1051-18T>G
|
|
|
NM_001080414.4(CCDC88C):c.1051-19G>A
|
|
|
NM_001080414.4(CCDC88C):c.1051-19G>T
|
|
|
NM_001080414.4(CCDC88C):c.1051-2A>G
|
|
|
NM_001080414.4(CCDC88C):c.1051-7T>G
|
|
|
NM_001080414.4(CCDC88C):c.1054C>T (p.Leu352=)
|
|
|
NM_001080414.4(CCDC88C):c.1056G>A (p.Leu352=)
|
|
|
NM_001080414.4(CCDC88C):c.1059A>G (p.Arg353=)
|
|
|
NM_001080414.4(CCDC88C):c.1062A>G (p.Glu354=)
|
|
|
NM_001080414.4(CCDC88C):c.1065T>C (p.Asp355=)
|
|
|
NM_001080414.4(CCDC88C):c.1075T>C (p.Leu359=)
|
|
|
NM_001080414.4(CCDC88C):c.1078A>G (p.Ile360Val)
|
rs1304700994
|
|
NM_001080414.4(CCDC88C):c.1085C>T (p.Thr362Ile)
|
|
|
NM_001080414.4(CCDC88C):c.1090del (p.Ala364fs)
|
|
|
NM_001080414.4(CCDC88C):c.1101G>A (p.Glu367=)
|
|
|
NM_001080414.4(CCDC88C):c.1119T>G (p.Ala373=)
|
|
|
NM_001080414.4(CCDC88C):c.1120C>A (p.Arg374=)
|
|
|
NM_001080414.4(CCDC88C):c.1120C>T (p.Arg374Trp)
|
|
|
NM_001080414.4(CCDC88C):c.1122G>T (p.Arg374=)
|
|
|
NM_001080414.4(CCDC88C):c.1125C>T (p.Ala375=)
|
|
|
NM_001080414.4(CCDC88C):c.1137dup (p.Val380fs)
|
|
|
NM_001080414.4(CCDC88C):c.1143T>C (p.His381=)
|
|
|
NM_001080414.4(CCDC88C):c.1155G>A (p.Lys385=)
|
|
|
NM_001080414.4(CCDC88C):c.1185C>T (p.His395=)
|
|
|
NM_001080414.4(CCDC88C):c.1190T>C (p.Leu397Pro)
|
rs2139831706
|
|
NM_001080414.4(CCDC88C):c.1197+13G>A
|
|
|
NM_001080414.4(CCDC88C):c.1197+8A>G
|
|
|
NM_001080414.4(CCDC88C):c.1198-16_1198-15del
|
|
|
NM_001080414.4(CCDC88C):c.1198-19C>A
|
|
|
NM_001080414.4(CCDC88C):c.1198-20C>T
|
|
|
NM_001080414.4(CCDC88C):c.1198-7G>C
|
|
|
NM_001080414.4(CCDC88C):c.1203G>C (p.Arg401=)
|
|
|
NM_001080414.4(CCDC88C):c.1209A>G (p.Thr403=)
|
|
|
NM_001080414.4(CCDC88C):c.1219C>T (p.Arg407Ter)
|
rs1064796464
|
|
NM_001080414.4(CCDC88C):c.1235T>C (p.Leu412Pro)
|
|
|
NM_001080414.4(CCDC88C):c.1254T>C (p.Leu418=)
|
|
|
NM_001080414.4(CCDC88C):c.1257G>A (p.Glu419=)
|
|
|
NM_001080414.4(CCDC88C):c.1260T>C (p.Ile420=)
|
|
|
NM_001080414.4(CCDC88C):c.1281C>T (p.Asn427=)
|
|
|
NM_001080414.4(CCDC88C):c.1284A>G (p.Glu428=)
|
|
|
NM_001080414.4(CCDC88C):c.129C>T (p.Asp43=)
|
|
|
NM_001080414.4(CCDC88C):c.1311G>A (p.Glu437=)
|
|
|
NM_001080414.4(CCDC88C):c.1314G>A (p.Gln438=)
|
|
|
NM_001080414.4(CCDC88C):c.1315C>T (p.Leu439=)
|
|
|
NM_001080414.4(CCDC88C):c.1323G>A (p.Lys441=)
|
|
|
NM_001080414.4(CCDC88C):c.1326C>T (p.Asn442=)
|
|
|
NM_001080414.4(CCDC88C):c.1338A>G (p.Ser446=)
|
|
|
NM_001080414.4(CCDC88C):c.1342+10G>A
|
|
|
NM_001080414.4(CCDC88C):c.1342+14G>A
|
|
|
NM_001080414.4(CCDC88C):c.1342+17G>A
|
|
|
NM_001080414.4(CCDC88C):c.1342+20G>A
|
|
|
NM_001080414.4(CCDC88C):c.1342+20G>T
|
|
|
NM_001080414.4(CCDC88C):c.1342+9C>A
|
|
|
NM_001080414.4(CCDC88C):c.1342G>A (p.Ala448Thr)
|
|
|
NM_001080414.4(CCDC88C):c.1343-16T>C
|
|
|
NM_001080414.4(CCDC88C):c.1343-19G>A
|
|
|
NM_001080414.4(CCDC88C):c.1343-19G>C
|
|
|
NM_001080414.4(CCDC88C):c.1344C>T (p.Ala448=)
|
|
|
NM_001080414.4(CCDC88C):c.1347C>T (p.Ser449=)
|
|
|
NM_001080414.4(CCDC88C):c.1353G>A (p.Lys451=)
|
|
|
NM_001080414.4(CCDC88C):c.1356G>A (p.Ser452=)
|
|
|
NM_001080414.4(CCDC88C):c.1362G>C (p.Val454=)
|
|
|
NM_001080414.4(CCDC88C):c.1371G>A (p.Leu457=)
|
|
|
NM_001080414.4(CCDC88C):c.1371G>C (p.Leu457=)
|
|
|
NM_001080414.4(CCDC88C):c.1374C>A (p.Asn458Lys)
|
|
|
NM_001080414.4(CCDC88C):c.1383G>A (p.Ala461=)
|
|
|
NM_001080414.4(CCDC88C):c.1383G>C (p.Ala461=)
|
|
|
NM_001080414.4(CCDC88C):c.1389C>T (p.Ser463=)
|
|
|
NM_001080414.4(CCDC88C):c.1392C>A (p.Arg464=)
|
|
|
NM_001080414.4(CCDC88C):c.1398G>A (p.Leu466=)
|
|
|
NM_001080414.4(CCDC88C):c.1402C>T (p.Leu468=)
|
|
|
NM_001080414.4(CCDC88C):c.1420_1421del (p.Ser474fs)
|
|
|
NM_001080414.4(CCDC88C):c.1434C>T (p.Thr478=)
|
|
|
NM_001080414.4(CCDC88C):c.1435A>G (p.Ile479Val)
|
|
|
NM_001080414.4(CCDC88C):c.1443G>T (p.Gly481=)
|
|
|
NM_001080414.4(CCDC88C):c.1446G>A (p.Leu482=)
|
|
|
NM_001080414.4(CCDC88C):c.1452C>T (p.Asp484=)
|
|
|
NM_001080414.4(CCDC88C):c.1455G>A (p.Ala485=)
|
|
|
NM_001080414.4(CCDC88C):c.1455G>T (p.Ala485=)
|
|
|
NM_001080414.4(CCDC88C):c.1458C>G (p.Ser486=)
|
|
|
NM_001080414.4(CCDC88C):c.1458C>T (p.Ser486=)
|
|
|
NM_001080414.4(CCDC88C):c.1464G>A (p.Val488=)
|
|
|
NM_001080414.4(CCDC88C):c.1476C>T (p.Ser492=)
|
|
|
NM_001080414.4(CCDC88C):c.1485G>A (p.Lys495=)
|
|
|
NM_001080414.4(CCDC88C):c.1488C>T (p.Cys496=)
|
|
|
NM_001080414.4(CCDC88C):c.1509C>T (p.Asn503=)
|
|
|
NM_001080414.4(CCDC88C):c.1527+19G>A
|
|
|
NM_001080414.4(CCDC88C):c.1527+7C>T
|
|
|
NM_001080414.4(CCDC88C):c.1527+8G>T
|
|
|
NM_001080414.4(CCDC88C):c.1528-10G>T
|
|
|
NM_001080414.4(CCDC88C):c.1528-20T>C
|
|
|
NM_001080414.4(CCDC88C):c.1535del (p.Lys512fs)
|
|
|
NM_001080414.4(CCDC88C):c.1548G>A (p.Gln516=)
|
|
|
NM_001080414.4(CCDC88C):c.1560A>G (p.Glu520=)
|
|
|
NM_001080414.4(CCDC88C):c.1566G>A (p.Gln522=)
|
|
|
NM_001080414.4(CCDC88C):c.1593T>C (p.Ser531=)
|
|
|
NM_001080414.4(CCDC88C):c.1606A>T (p.Arg536Ter)
|
|
|
NM_001080414.4(CCDC88C):c.1608A>G (p.Arg536=)
|
rs61743971
|
|
NM_001080414.4(CCDC88C):c.161+10C>G
|
|
|
NM_001080414.4(CCDC88C):c.161+15_161+17del
|
|
|
NM_001080414.4(CCDC88C):c.161+16_161+18del
|
|
|
NM_001080414.4(CCDC88C):c.161+18C>A
|
|
|
NM_001080414.4(CCDC88C):c.161+18C>T
|
|
|
NM_001080414.4(CCDC88C):c.161+1G>A
|
|
|
NM_001080414.4(CCDC88C):c.161+4_161+6dup
|
|
|
NM_001080414.4(CCDC88C):c.161+9C>T
|
|
|
NM_001080414.4(CCDC88C):c.162-16G>A
|
|
|
NM_001080414.4(CCDC88C):c.162-17C>T
|
|
|
NM_001080414.4(CCDC88C):c.162-19C>T
|
|
|
NM_001080414.4(CCDC88C):c.162-4C>T
|
|
|
NM_001080414.4(CCDC88C):c.162-5C>G
|
|
|
NM_001080414.4(CCDC88C):c.162-7C>A
|
|
|
NM_001080414.4(CCDC88C):c.162-7C>T
|
|
|
NM_001080414.4(CCDC88C):c.162-8T>C
|
|
|
NM_001080414.4(CCDC88C):c.1623G>A (p.Leu541=)
|
|
|
NM_001080414.4(CCDC88C):c.1624C>T (p.Gln542Ter)
|
|
|
NM_001080414.4(CCDC88C):c.1629T>C (p.Ser543=)
|
|
|
NM_001080414.4(CCDC88C):c.1641C>A (p.Thr547=)
|
|
|
NM_001080414.4(CCDC88C):c.1659C>T (p.Ala553=)
|
|
|
NM_001080414.4(CCDC88C):c.1665+10T>A
|
|
|
NM_001080414.4(CCDC88C):c.1665+10T>C
|
|
|
NM_001080414.4(CCDC88C):c.1665+10T>G
|
|
|
NM_001080414.4(CCDC88C):c.1665+11C>T
|
|
|
NM_001080414.4(CCDC88C):c.1665+12C>A
|
|
|
NM_001080414.4(CCDC88C):c.1665+16A>G
|
|
|
NM_001080414.4(CCDC88C):c.1665+19A>G
|
|
|
NM_001080414.4(CCDC88C):c.1665+9C>T
|
|
|
NM_001080414.4(CCDC88C):c.1666-4G>A
|
|
|
NM_001080414.4(CCDC88C):c.1666-7C>T
|
|
|
NM_001080414.4(CCDC88C):c.1674C>T (p.Asp558=)
|
|
|
NM_001080414.4(CCDC88C):c.1698C>T (p.Leu566=)
|
|
|
NM_001080414.4(CCDC88C):c.1700A>G (p.Asn567Ser)
|
|
|
NM_001080414.4(CCDC88C):c.1702C>T (p.Arg568Ter)
|
|
|
NM_001080414.4(CCDC88C):c.1703G>A (p.Arg568Gln)
|
|
|
NM_001080414.4(CCDC88C):c.1707C>T (p.Ala569=)
|
|
|
NM_001080414.4(CCDC88C):c.1716G>A (p.Ser572=)
|
|
|
NM_001080414.4(CCDC88C):c.1717C>T (p.Leu573=)
|
|
|
NM_001080414.4(CCDC88C):c.171G>A (p.Arg57=)
|
|
|
NM_001080414.4(CCDC88C):c.1720C>T (p.Arg574Trp)
|
|
|
NM_001080414.4(CCDC88C):c.1722G>C (p.Arg574=)
|
|
|
NM_001080414.4(CCDC88C):c.1731G>A (p.Ser577=)
|
|
|
NM_001080414.4(CCDC88C):c.1740C>T (p.Ser580=)
|
|
|
NM_001080414.4(CCDC88C):c.1743T>C (p.Ser581=)
|
|
|
NM_001080414.4(CCDC88C):c.1749C>T (p.Ala583=)
|
|
|
NM_001080414.4(CCDC88C):c.1750C>T (p.Arg584Cys)
|
|
|
NM_001080414.4(CCDC88C):c.1761C>T (p.Asp587=)
|
|
|
NM_001080414.4(CCDC88C):c.1767G>A (p.Glu589=)
|
|
|
NM_001080414.4(CCDC88C):c.1768A>T (p.Lys590Ter)
|
|
|
NM_001080414.4(CCDC88C):c.1770G>A (p.Lys590=)
|
|
|
NM_001080414.4(CCDC88C):c.1783C>T (p.Leu595Phe)
|
|
|
NM_001080414.4(CCDC88C):c.1785C>T (p.Leu595=)
|
|
|
NM_001080414.4(CCDC88C):c.1800G>A (p.Thr600=)
|
|
|
NM_001080414.4(CCDC88C):c.1815G>A (p.Lys605=)
|
|
|
NM_001080414.4(CCDC88C):c.1818C>T (p.Leu606=)
|
|
|
NM_001080414.4(CCDC88C):c.1827G>A (p.Leu609=)
|
|
|
NM_001080414.4(CCDC88C):c.1830G>A (p.Glu610=)
|
|
|
NM_001080414.4(CCDC88C):c.183A>G (p.Gln61=)
|
|
|
NM_001080414.4(CCDC88C):c.1842G>A (p.Arg614=)
|
|
|
NM_001080414.4(CCDC88C):c.1854G>A (p.Arg618=)
|
|
|
NM_001080414.4(CCDC88C):c.185G>A (p.Arg62His)
|
rs757076773
|
|
NM_001080414.4(CCDC88C):c.1866G>A (p.Gln622=)
|
|
|
NM_001080414.4(CCDC88C):c.1872G>A (p.Lys624=)
|
|
|
NM_001080414.4(CCDC88C):c.1878G>A (p.Lys626=)
|
|
|
NM_001080414.4(CCDC88C):c.1881G>A (p.Gly627=)
|
|
|
NM_001080414.4(CCDC88C):c.1884G>A (p.Glu628=)
|
|
|
NM_001080414.4(CCDC88C):c.189C>T (p.Ile63=)
|
|
|
NM_001080414.4(CCDC88C):c.1902G>A (p.Glu634=)
|
|
|
NM_001080414.4(CCDC88C):c.1911A>C (p.Leu637=)
|
|
|
NM_001080414.4(CCDC88C):c.1927G>T (p.Glu643Ter)
|
|
|
NM_001080414.4(CCDC88C):c.1932C>T (p.Asn644=)
|
|
|
NM_001080414.4(CCDC88C):c.1941G>A (p.Leu647=)
|
|
|
NM_001080414.4(CCDC88C):c.1944C>T (p.Ala648=)
|
|
|
NM_001080414.4(CCDC88C):c.1959C>T (p.Ser653=)
|
|
|
NM_001080414.4(CCDC88C):c.1974C>T (p.Thr658=)
|
|
|
NM_001080414.4(CCDC88C):c.1982T>C (p.Val661Ala)
|
|
|
NM_001080414.4(CCDC88C):c.1983C>A (p.Val661=)
|
|
|
NM_001080414.4(CCDC88C):c.1983C>T (p.Val661=)
|
|
|
NM_001080414.4(CCDC88C):c.198C>T (p.His66=)
|
|
|
NM_001080414.4(CCDC88C):c.2013G>A (p.Leu671=)
|
|
|
NM_001080414.4(CCDC88C):c.2025C>T (p.Asn675=)
|
|
|
NM_001080414.4(CCDC88C):c.2031T>C (p.Thr677=)
|
|
|
NM_001080414.4(CCDC88C):c.2034G>A (p.Leu678=)
|
|
|
NM_001080414.4(CCDC88C):c.2046G>A (p.Leu682=)
|
|
|
NM_001080414.4(CCDC88C):c.2052C>A (p.Thr684=)
|
|
|
NM_001080414.4(CCDC88C):c.2058G>A (p.Gln686=)
|
|
|
NM_001080414.4(CCDC88C):c.2061C>T (p.Asn687=)
|
|
|
NM_001080414.4(CCDC88C):c.2064G>A (p.Val688=)
|
|
|
NM_001080414.4(CCDC88C):c.2066C>G (p.Ser689Cys)
|
|
|
NM_001080414.4(CCDC88C):c.2067C>T (p.Ser689=)
|
|
|
NM_001080414.4(CCDC88C):c.2068C>T (p.Leu690=)
|
|
|
NM_001080414.4(CCDC88C):c.2089C>T (p.Arg697Cys)
|
|
|
NM_001080414.4(CCDC88C):c.2097C>G (p.Asn699Lys)
|
|
|
NM_001080414.4(CCDC88C):c.2097C>T (p.Asn699=)
|
|
|
NM_001080414.4(CCDC88C):c.2109C>T (p.Asp703=)
|
|
|
NM_001080414.4(CCDC88C):c.210T>C (p.Asp70=)
|
|
|
NM_001080414.4(CCDC88C):c.2112A>G (p.Ala704=)
|
|
|
NM_001080414.4(CCDC88C):c.2119C>T (p.Leu707=)
|
|
|
NM_001080414.4(CCDC88C):c.2121G>C (p.Leu707=)
|
|
|
NM_001080414.4(CCDC88C):c.2125C>T (p.Leu709=)
|
|
|
NM_001080414.4(CCDC88C):c.2128C>T (p.Arg710Cys)
|
|
|
NM_001080414.4(CCDC88C):c.2129G>A (p.Arg710His)
|
|
|
NM_001080414.4(CCDC88C):c.2142G>A (p.Glu714=)
|
|
|
NM_001080414.4(CCDC88C):c.2145C>T (p.Thr715=)
|
|
|
NM_001080414.4(CCDC88C):c.2175G>A (p.Gln725=)
|
|
|
NM_001080414.4(CCDC88C):c.2190C>T (p.Asn730=)
|
|
|
NM_001080414.4(CCDC88C):c.2193G>A (p.Gln731=)
|
|
|
NM_001080414.4(CCDC88C):c.2218C>T (p.Leu740=)
|
|
|
NM_001080414.4(CCDC88C):c.2229C>T (p.Asn743=)
|
|
|
NM_001080414.4(CCDC88C):c.2238G>A (p.Leu746=)
|
|
|
NM_001080414.4(CCDC88C):c.2241C>G (p.Leu747=)
|
|
|
NM_001080414.4(CCDC88C):c.2246C>T (p.Ala749Val)
|
|
|
NM_001080414.4(CCDC88C):c.2247G>A (p.Ala749=)
|
|
|
NM_001080414.4(CCDC88C):c.2247G>T (p.Ala749=)
|
|
|
NM_001080414.4(CCDC88C):c.2277C>G (p.Leu759=)
|
|
|
NM_001080414.4(CCDC88C):c.2280C>T (p.Ser760=)
|
|
|
NM_001080414.4(CCDC88C):c.2283C>T (p.Tyr761=)
|
|
|
NM_001080414.4(CCDC88C):c.2290G>A (p.Val764Met)
|
|
|
NM_001080414.4(CCDC88C):c.2295C>T (p.Ser765=)
|
|
|
NM_001080414.4(CCDC88C):c.2296G>A (p.Ala766Thr)
|
|
|
NM_001080414.4(CCDC88C):c.2301G>A (p.Glu767=)
|
|
|
NM_001080414.4(CCDC88C):c.2316G>A (p.Gln772=)
|
|
|
NM_001080414.4(CCDC88C):c.231T>C (p.Asn77=)
|
|
|
NM_001080414.4(CCDC88C):c.2325G>T (p.Leu775=)
|
|
|
NM_001080414.4(CCDC88C):c.2328G>A (p.Glu776=)
|
|
|
NM_001080414.4(CCDC88C):c.2346G>A (p.Thr782=)
|
|
|
NM_001080414.4(CCDC88C):c.2355G>A (p.Leu785=)
|
|
|
NM_001080414.4(CCDC88C):c.2358G>A (p.Glu786=)
|
|
|
NM_001080414.4(CCDC88C):c.2365C>T (p.Leu789=)
|
|
|
NM_001080414.4(CCDC88C):c.2373G>A (p.Glu791=)
|
|
|
NM_001080414.4(CCDC88C):c.2374C>T (p.Leu792=)
|
|
|
NM_001080414.4(CCDC88C):c.2386C>T (p.Arg796Cys)
|
|
|
NM_001080414.4(CCDC88C):c.2388C>A (p.Arg796=)
|
|
|
NM_001080414.4(CCDC88C):c.2394G>A (p.Ala798=)
|
|
|
NM_001080414.4(CCDC88C):c.2394G>T (p.Ala798=)
|
|
|
NM_001080414.4(CCDC88C):c.2401C>T (p.Arg801Trp)
|
|
|
NM_001080414.4(CCDC88C):c.2403G>A (p.Arg801=)
|
|
|
NM_001080414.4(CCDC88C):c.2409G>A (p.Leu803=)
|
|
|
NM_001080414.4(CCDC88C):c.240C>T (p.Ile80=)
|
|
|
NM_001080414.4(CCDC88C):c.2422C>T (p.Leu808=)
|
|
|
NM_001080414.4(CCDC88C):c.2429A>C (p.Asn810Thr)
|
|
|
NM_001080414.4(CCDC88C):c.2429A>G (p.Asn810Ser)
|
|
|
NM_001080414.4(CCDC88C):c.2436G>A (p.Gln812=)
|
|
|
NM_001080414.4(CCDC88C):c.243G>A (p.Leu81=)
|
|
|
NM_001080414.4(CCDC88C):c.2448C>A (p.Ala816=)
|
|
|
NM_001080414.4(CCDC88C):c.2448C>T (p.Ala816=)
|
|
|
NM_001080414.4(CCDC88C):c.2449G>A (p.Glu817Lys)
|
|
|
NM_001080414.4(CCDC88C):c.2460G>A (p.Arg820=)
|
|
|
NM_001080414.4(CCDC88C):c.2472G>A (p.Glu824=)
|
|
|
NM_001080414.4(CCDC88C):c.2477A>T (p.Glu826Val)
|
|
|
NM_001080414.4(CCDC88C):c.2480T>C (p.Val827Ala)
|
|
|
NM_001080414.4(CCDC88C):c.2485C>T (p.Gln829Ter)
|
|
|
NM_001080414.4(CCDC88C):c.2490C>G (p.Leu830=)
|
|
|
NM_001080414.4(CCDC88C):c.2490C>T (p.Leu830=)
|
|
|
NM_001080414.4(CCDC88C):c.2522C>T (p.Ala841Val)
|
|
|
NM_001080414.4(CCDC88C):c.2527C>T (p.Arg843Trp)
|
|
|
NM_001080414.4(CCDC88C):c.252C>T (p.Asn84=)
|
|
|
NM_001080414.4(CCDC88C):c.2553G>A (p.Lys851=)
|
rs1051150148
|
|
NM_001080414.4(CCDC88C):c.2562C>A (p.Val854=)
|
|
|
NM_001080414.4(CCDC88C):c.2565G>A (p.Leu855=)
|
|
|
NM_001080414.4(CCDC88C):c.2571T>C (p.Asp857=)
|
|
|
NM_001080414.4(CCDC88C):c.2574C>T (p.Ser858=)
|
|
|
NM_001080414.4(CCDC88C):c.2586G>A (p.Leu862=)
|
|
|
NM_001080414.4(CCDC88C):c.2589C>T (p.Ser863=)
|
|
|
NM_001080414.4(CCDC88C):c.2592C>T (p.Ala864=)
|
|
|
NM_001080414.4(CCDC88C):c.2593G>A (p.Val865Ile)
|
|
|
NM_001080414.4(CCDC88C):c.2609G>A (p.Arg870His)
|
|
|
NM_001080414.4(CCDC88C):c.2610C>T (p.Arg870=)
|
|
|
NM_001080414.4(CCDC88C):c.2612C>T (p.Ala871Val)
|
|
|
NM_001080414.4(CCDC88C):c.261C>T (p.Thr87=)
|
|
|
NM_001080414.4(CCDC88C):c.2629G>A (p.Ala877Thr)
|
|
|
NM_001080414.4(CCDC88C):c.2643C>T (p.Asp881=)
|
|
|
NM_001080414.4(CCDC88C):c.2649C>T (p.Ala883=)
|
|
|
NM_001080414.4(CCDC88C):c.2650G>A (p.Gly884Ser)
|
|
|
NM_001080414.4(CCDC88C):c.2652C>A (p.Gly884=)
|
|
|
NM_001080414.4(CCDC88C):c.2658G>A (p.Leu886=)
|
|
|
NM_001080414.4(CCDC88C):c.2667G>A (p.Leu889=)
|
|
|
NM_001080414.4(CCDC88C):c.267C>T (p.Tyr89=)
|
|
|
NM_001080414.4(CCDC88C):c.270+10G>T
|
|
|
NM_001080414.4(CCDC88C):c.270+12_270+14del
|
|
|
NM_001080414.4(CCDC88C):c.270+17T>C
|
|
|
NM_001080414.4(CCDC88C):c.270+20C>T
|
|
|
NM_001080414.4(CCDC88C):c.270+7G>A
|
|
|
NM_001080414.4(CCDC88C):c.270+9A>G
|
|
|
NM_001080414.4(CCDC88C):c.2700C>A (p.Val900=)
|
|
|
NM_001080414.4(CCDC88C):c.2703C>T (p.Thr901=)
|
|
|
NM_001080414.4(CCDC88C):c.2704G>A (p.Val902Met)
|
|
|
NM_001080414.4(CCDC88C):c.271-14C>G
|
|
|
NM_001080414.4(CCDC88C):c.271-14dup
|
|
|
NM_001080414.4(CCDC88C):c.271-15C>T
|
|
|
NM_001080414.4(CCDC88C):c.271-16C>G
|
|
|
NM_001080414.4(CCDC88C):c.271-19T>C
|
|
|
NM_001080414.4(CCDC88C):c.271-6C>T
|
|
|
NM_001080414.4(CCDC88C):c.2718A>G (p.Thr906=)
|
|
|
NM_001080414.4(CCDC88C):c.2736+10C>T
|
|
|
NM_001080414.4(CCDC88C):c.2736+12C>T
|
|
|
NM_001080414.4(CCDC88C):c.2736+13A>T
|
|
|
NM_001080414.4(CCDC88C):c.2736+15G>A
|
|
|
NM_001080414.4(CCDC88C):c.2736+16C>G
|
|
|
NM_001080414.4(CCDC88C):c.2736+17G>A
|
|
|
NM_001080414.4(CCDC88C):c.2736+19C>T
|
|
|
NM_001080414.4(CCDC88C):c.2736+20G>A
|
|
|
NM_001080414.4(CCDC88C):c.2736+20G>C
|
rs7151807
|
|
NM_001080414.4(CCDC88C):c.2736+82A>G
|
rs7152930
|
|
NM_001080414.4(CCDC88C):c.2737-104C>T
|
rs2277507
|
|
NM_001080414.4(CCDC88C):c.2737-11C>G
|
|
|
NM_001080414.4(CCDC88C):c.2737-13C>T
|
|
|
NM_001080414.4(CCDC88C):c.2737-14C>T
|
|
|
NM_001080414.4(CCDC88C):c.2737-16C>T
|
|
|
NM_001080414.4(CCDC88C):c.2737-20C>T
|
|
|
NM_001080414.4(CCDC88C):c.2737-5T>C
|
|
|
NM_001080414.4(CCDC88C):c.2742G>A (p.Leu914=)
|
|
|
NM_001080414.4(CCDC88C):c.2742G>T (p.Leu914=)
|
|
|
NM_001080414.4(CCDC88C):c.2748C>G (p.Leu916=)
|
|
|
NM_001080414.4(CCDC88C):c.2748C>T (p.Leu916=)
|
|
|
NM_001080414.4(CCDC88C):c.2757G>A (p.Leu919=)
|
|
|
NM_001080414.4(CCDC88C):c.2763C>T (p.Ser921=)
|
|
|
NM_001080414.4(CCDC88C):c.2782C>T (p.Leu928=)
|
|
|
NM_001080414.4(CCDC88C):c.2784G>C (p.Leu928=)
|
|
|
NM_001080414.4(CCDC88C):c.2785G>T (p.Asp929Tyr)
|
|
|
NM_001080414.4(CCDC88C):c.2787C>T (p.Asp929=)
|
|
|
NM_001080414.4(CCDC88C):c.2793G>A (p.Leu931=)
|
|
|
NM_001080414.4(CCDC88C):c.2803C>G (p.Leu935Val)
|
|
|
NM_001080414.4(CCDC88C):c.2818C>T (p.Leu940Phe)
|
|
|
NM_001080414.4(CCDC88C):c.2829G>A (p.Glu943=)
|
|
|
NM_001080414.4(CCDC88C):c.2832G>C (p.Leu944=)
|
|
|
NM_001080414.4(CCDC88C):c.2833C>T (p.Leu945=)
|
|
|
NM_001080414.4(CCDC88C):c.2845G>A (p.Asp949Asn)
|
|
|
NM_001080414.4(CCDC88C):c.2847C>T (p.Asp949=)
|
|
|
NM_001080414.4(CCDC88C):c.2853C>T (p.Ser951=)
|
|
|
NM_001080414.4(CCDC88C):c.285G>A (p.Gln95=)
|
|
|
NM_001080414.4(CCDC88C):c.2864+11C>G
|
|
|
NM_001080414.4(CCDC88C):c.2864+14C>T
|
|
|
NM_001080414.4(CCDC88C):c.2864+18C>T
|
|
|
NM_001080414.4(CCDC88C):c.2864+19T>C
|
|
|
NM_001080414.4(CCDC88C):c.2864+9C>T
|
|
|
NM_001080414.4(CCDC88C):c.2865-11G>T
|
|
|
NM_001080414.4(CCDC88C):c.2865-15C>G
|
|
|
NM_001080414.4(CCDC88C):c.2865-4C>T
|
|
|
NM_001080414.4(CCDC88C):c.2865-8T>C
|
|
|
NM_001080414.4(CCDC88C):c.2865-9_2865-8del
|
|
|
NM_001080414.4(CCDC88C):c.2868A>G (p.Lys956=)
|
|
|
NM_001080414.4(CCDC88C):c.2871C>A (p.Tyr957Ter)
|
|
|
NM_001080414.4(CCDC88C):c.2895A>G (p.Glu965=)
|
|
|
NM_001080414.4(CCDC88C):c.2898A>C (p.Ser966=)
|
|
|
NM_001080414.4(CCDC88C):c.2900C>T (p.Ala967Val)
|
|
|
NM_001080414.4(CCDC88C):c.2908ACA[1] (p.Thr971del)
|
rs760595514
|
|
NM_001080414.4(CCDC88C):c.2913A>G (p.Thr971=)
|
|
|
NM_001080414.4(CCDC88C):c.2946A>G (p.Leu982=)
|
|
|
NM_001080414.4(CCDC88C):c.2955G>A (p.Gln985=)
|
|
|
NM_001080414.4(CCDC88C):c.2961A>G (p.Glu987=)
|
|
|
NM_001080414.4(CCDC88C):c.2964G>A (p.Glu988=)
|
|
|
NM_001080414.4(CCDC88C):c.2967A>G (p.Lys989=)
|
|
|
NM_001080414.4(CCDC88C):c.2970G>A (p.Ala990=)
|
|
|
NM_001080414.4(CCDC88C):c.2974C>T (p.Leu992=)
|
|
|
NM_001080414.4(CCDC88C):c.2982C>T (p.Arg994=)
|
|
|
NM_001080414.4(CCDC88C):c.3000G>A (p.Leu1000=)
|
|
|
NM_001080414.4(CCDC88C):c.3006+11A>T
|
|
|
NM_001080414.4(CCDC88C):c.3006+12G>C
|
|
|
NM_001080414.4(CCDC88C):c.3006+13G>T
|
|
|
NM_001080414.4(CCDC88C):c.3006+20T>C
|
|
|
NM_001080414.4(CCDC88C):c.3007-13G>T
|
rs752697569
|
|
NM_001080414.4(CCDC88C):c.3007-15T>C
|
|
|
NM_001080414.4(CCDC88C):c.3007-16A>G
|
|
|
NM_001080414.4(CCDC88C):c.3007-4G>T
|
|
|
NM_001080414.4(CCDC88C):c.3007-7C>T
|
|
|
NM_001080414.4(CCDC88C):c.302T>A (p.Leu101Ter)
|
|
|
NM_001080414.4(CCDC88C):c.3033G>A (p.Arg1011=)
|
|
|
NM_001080414.4(CCDC88C):c.3042G>A (p.Gln1014=)
|
|
|
NM_001080414.4(CCDC88C):c.3043G>T (p.Gly1015Ter)
|
|
|
NM_001080414.4(CCDC88C):c.3050_3054dup (p.His1019fs)
|
|
|
NM_001080414.4(CCDC88C):c.3051G>A (p.Gly1017=)
|
|
|
NM_001080414.4(CCDC88C):c.3072C>T (p.Phe1024=)
|
|
|
NM_001080414.4(CCDC88C):c.3084G>A (p.Ala1028=)
|
|
|
NM_001080414.4(CCDC88C):c.3087G>C (p.Gly1029=)
|
|
|
NM_001080414.4(CCDC88C):c.3087G>T (p.Gly1029=)
|
|
|
NM_001080414.4(CCDC88C):c.3096C>T (p.Ala1032=)
|
|
|
NM_001080414.4(CCDC88C):c.3097G>A (p.Ala1033Thr)
|
|
|
NM_001080414.4(CCDC88C):c.3126G>A (p.Gly1042=)
|
|
|
NM_001080414.4(CCDC88C):c.3138G>A (p.Lys1046=)
|
|
|
NM_001080414.4(CCDC88C):c.3153G>A (p.Glu1051=)
|
|
|
NM_001080414.4(CCDC88C):c.3160C>A (p.Arg1054=)
|
|
|
NM_001080414.4(CCDC88C):c.3174G>T (p.Arg1058=)
|
|
|
NM_001080414.4(CCDC88C):c.3177C>T (p.Ala1059=)
|
|
|
NM_001080414.4(CCDC88C):c.317T>C (p.Met106Thr)
|
|
|
NM_001080414.4(CCDC88C):c.3180C>A (p.Ile1060=)
|
|
|
NM_001080414.4(CCDC88C):c.3180C>T (p.Ile1060=)
|
|
|
NM_001080414.4(CCDC88C):c.3183G>A (p.Glu1061=)
|
|
|
NM_001080414.4(CCDC88C):c.3187G>T (p.Glu1063Ter)
|
|
|
NM_001080414.4(CCDC88C):c.3189G>A (p.Glu1063=)
|
|
|
NM_001080414.4(CCDC88C):c.3195+12G>A
|
|
|
NM_001080414.4(CCDC88C):c.3195+13G>A
|
|
|
NM_001080414.4(CCDC88C):c.3195+15C>T
|
|
|
NM_001080414.4(CCDC88C):c.3195+38GA[7]
|
rs200376745
|
|
NM_001080414.4(CCDC88C):c.3195+7G>A
|
|
|
NM_001080414.4(CCDC88C):c.3195+8G>A
|
|
|
NM_001080414.4(CCDC88C):c.3195+9G>A
|
|
|
NM_001080414.4(CCDC88C):c.3195+9_3195+13del
|
|
|
NM_001080414.4(CCDC88C):c.3196-10G>A
|
|
|
NM_001080414.4(CCDC88C):c.3196-11C>T
|
|
|
NM_001080414.4(CCDC88C):c.3196-13C>T
|
|
|
NM_001080414.4(CCDC88C):c.3196-13_3196-6del
|
|
|
NM_001080414.4(CCDC88C):c.3196-15C>A
|
|
|
NM_001080414.4(CCDC88C):c.3196-15C>T
|
|
|
NM_001080414.4(CCDC88C):c.3196-19A>G
|
|
|
NM_001080414.4(CCDC88C):c.3196-1G>A
|
|
|
NM_001080414.4(CCDC88C):c.3196-20C>T
|
|
|
NM_001080414.4(CCDC88C):c.3196-5_3196-3del
|
|
|
NM_001080414.4(CCDC88C):c.3205C>T (p.Leu1069=)
|
|
|
NM_001080414.4(CCDC88C):c.3210G>A (p.Gln1070=)
|
|
|
NM_001080414.4(CCDC88C):c.3226C>T (p.Leu1076=)
|
|
|
NM_001080414.4(CCDC88C):c.3228A>G (p.Leu1076=)
|
|
|
NM_001080414.4(CCDC88C):c.3246C>T (p.His1082=)
|
|
|
NM_001080414.4(CCDC88C):c.3247_3248del (p.Leu1083fs)
|
|
|
NM_001080414.4(CCDC88C):c.3255C>T (p.Thr1085=)
|
|
|
NM_001080414.4(CCDC88C):c.3261C>T (p.Asn1087=)
|
|
|
NM_001080414.4(CCDC88C):c.3271A>G (p.Ser1091Gly)
|
|
|
NM_001080414.4(CCDC88C):c.3288A>G (p.Thr1096=)
|
|
|
NM_001080414.4(CCDC88C):c.3297A>G (p.Lys1099=)
|
|
|
NM_001080414.4(CCDC88C):c.3303C>T (p.Ser1101=)
|
|
|
NM_001080414.4(CCDC88C):c.3304G>A (p.Ala1102Thr)
|
|
|
NM_001080414.4(CCDC88C):c.3306C>T (p.Ala1102=)
|
|
|
NM_001080414.4(CCDC88C):c.3318G>A (p.Glu1106=)
|
|
|
NM_001080414.4(CCDC88C):c.331_332del (p.Pro111fs)
|
|
|
NM_001080414.4(CCDC88C):c.3342G>A (p.Gln1114=)
|
|
|
NM_001080414.4(CCDC88C):c.3345C>G (p.Thr1115=)
|
|
|
NM_001080414.4(CCDC88C):c.3346G>A (p.Ala1116Thr)
|
|
|
NM_001080414.4(CCDC88C):c.3357+10G>A
|
|
|
NM_001080414.4(CCDC88C):c.3357+10G>T
|
|
|
NM_001080414.4(CCDC88C):c.3357+11C>T
|
|
|
NM_001080414.4(CCDC88C):c.3357+13C>T
|
|
|
NM_001080414.4(CCDC88C):c.3357+19A>G
|
|
|
NM_001080414.4(CCDC88C):c.3357+7G>A
|
|
|
NM_001080414.4(CCDC88C):c.3358-10C>G
|
|
|
NM_001080414.4(CCDC88C):c.3358-10C>T
|
|
|
NM_001080414.4(CCDC88C):c.3358-12C>A
|
|
|
NM_001080414.4(CCDC88C):c.3358-19C>T
|
|
|
NM_001080414.4(CCDC88C):c.3358-19_3358-5dup
|
|
|
NM_001080414.4(CCDC88C):c.3358-20G>C
|
|
|
NM_001080414.4(CCDC88C):c.3358-20GC[3]
|
|
|
NM_001080414.4(CCDC88C):c.3358-5G>C
|
|
|
NM_001080414.4(CCDC88C):c.3358-6C>T
|
|
|
NM_001080414.4(CCDC88C):c.3358-8C>T
|
|
|
NM_001080414.4(CCDC88C):c.3360G>A (p.Val1120=)
|
|
|
NM_001080414.4(CCDC88C):c.3369C>A (p.Ser1123=)
|
|
|
NM_001080414.4(CCDC88C):c.3370A>G (p.Thr1124Ala)
|
|
|
NM_001080414.4(CCDC88C):c.3380_3384del (p.Ser1126_Ser1127insTer)
|
|
|
NM_001080414.4(CCDC88C):c.3387C>T (p.Ser1129=)
|
|
|
NM_001080414.4(CCDC88C):c.3388G>A (p.Ala1130Thr)
|
rs1064794398
|
|
NM_001080414.4(CCDC88C):c.3390A>C (p.Ala1130=)
|
|
|
NM_001080414.4(CCDC88C):c.3393G>A (p.Ala1131=)
|
|
|
NM_001080414.4(CCDC88C):c.3399C>T (p.Thr1133=)
|
|
|
NM_001080414.4(CCDC88C):c.340+13C>T
|
|
|
NM_001080414.4(CCDC88C):c.340+14G>A
|
|
|
NM_001080414.4(CCDC88C):c.340+16T>C
|
|
|
NM_001080414.4(CCDC88C):c.340+18C>G
|
|
|
NM_001080414.4(CCDC88C):c.340+7G>A
|
|
|
NM_001080414.4(CCDC88C):c.340+7G>T
|
|
|
NM_001080414.4(CCDC88C):c.340+7_340+8insT
|
|
|
NM_001080414.4(CCDC88C):c.340+8A>G
|
|
|
NM_001080414.4(CCDC88C):c.3402G>A (p.Ala1134=)
|
|
|
NM_001080414.4(CCDC88C):c.341-10C>T
|
|
|
NM_001080414.4(CCDC88C):c.341-12C>T
|
|
|
NM_001080414.4(CCDC88C):c.341-14C>T
|
|
|
NM_001080414.4(CCDC88C):c.341-16T>C
|
|
|
NM_001080414.4(CCDC88C):c.341-19T>A
|
|
|
NM_001080414.4(CCDC88C):c.341-20G>A
|
|
|
NM_001080414.4(CCDC88C):c.3411G>C (p.Thr1137=)
|
|
|
NM_001080414.4(CCDC88C):c.3435C>T (p.Ala1145=)
|
|
|
NM_001080414.4(CCDC88C):c.343_367del (p.Lys115fs)
|
|
|
NM_001080414.4(CCDC88C):c.3444G>A (p.Thr1148=)
|
|
|
NM_001080414.4(CCDC88C):c.3447G>A (p.Glu1149=)
|
|
|
NM_001080414.4(CCDC88C):c.3450C>T (p.Asn1150=)
|
|
|
NM_001080414.4(CCDC88C):c.3477A>G (p.Gln1159=)
|
|
|
NM_001080414.4(CCDC88C):c.3486G>T (p.Ala1162=)
|
|
|
NM_001080414.4(CCDC88C):c.3492C>G (p.Tyr1164Ter)
|
|
|
NM_001080414.4(CCDC88C):c.3492C>T (p.Tyr1164=)
|
|
|
NM_001080414.4(CCDC88C):c.3495G>A (p.Glu1165=)
|
|
|
NM_001080414.4(CCDC88C):c.3498C>T (p.Ala1166=)
|
|
|
NM_001080414.4(CCDC88C):c.3513C>T (p.His1171=)
|
|
|
NM_001080414.4(CCDC88C):c.3520C>T (p.Leu1174=)
|
|
|
NM_001080414.4(CCDC88C):c.3527C>T (p.Thr1176Met)
|
|
|
NM_001080414.4(CCDC88C):c.3531G>A (p.Leu1177=)
|
|
|
NM_001080414.4(CCDC88C):c.3531G>T (p.Leu1177=)
|
|
|
NM_001080414.4(CCDC88C):c.3534C>T (p.His1178=)
|
|
|
NM_001080414.4(CCDC88C):c.3546G>T (p.Ser1182=)
|
|
|
NM_001080414.4(CCDC88C):c.3549C>G (p.Ala1183=)
|
|
|
NM_001080414.4(CCDC88C):c.3549C>T (p.Ala1183=)
|
|
|
NM_001080414.4(CCDC88C):c.3555C>G (p.Tyr1185Ter)
|
|
|
NM_001080414.4(CCDC88C):c.3555C>T (p.Tyr1185=)
|
|
|
NM_001080414.4(CCDC88C):c.3555dup (p.Glu1186fs)
|
|
|
NM_001080414.4(CCDC88C):c.3562C>G (p.Leu1188Val)
|
|
|
NM_001080414.4(CCDC88C):c.3564C>T (p.Leu1188=)
|
|
|
NM_001080414.4(CCDC88C):c.3567C>T (p.Ile1189=)
|
|
|
NM_001080414.4(CCDC88C):c.3573G>A (p.Gln1191=)
|
|
|
NM_001080414.4(CCDC88C):c.3576C>T (p.His1192=)
|
|
|
NM_001080414.4(CCDC88C):c.358A>G (p.Ile120Val)
|
|
|
NM_001080414.4(CCDC88C):c.3591A>G (p.Thr1197=)
|
|
|
NM_001080414.4(CCDC88C):c.360C>T (p.Ile120=)
|
|
|
NM_001080414.4(CCDC88C):c.3618C>T (p.His1206=)
|
|
|
NM_001080414.4(CCDC88C):c.3635+10G>C
|
|
|
NM_001080414.4(CCDC88C):c.3635+13G>A
|
|
|
NM_001080414.4(CCDC88C):c.3635+15A>T
|
|
|
NM_001080414.4(CCDC88C):c.3635+18A>T
|
|
|
NM_001080414.4(CCDC88C):c.3635+19A>C
|
|
|
NM_001080414.4(CCDC88C):c.3635+20G>A
|
|
|
NM_001080414.4(CCDC88C):c.3635+8C>T
|
|
|
NM_001080414.4(CCDC88C):c.3635+9T>C
|
|
|
NM_001080414.4(CCDC88C):c.3636-10C>T
|
|
|
NM_001080414.4(CCDC88C):c.3636-17G>A
|
|
|
NM_001080414.4(CCDC88C):c.3636-19A>T
|
|
|
NM_001080414.4(CCDC88C):c.3636-20C>A
|
|
|
NM_001080414.4(CCDC88C):c.3636-20_3636-17dup
|
|
|
NM_001080414.4(CCDC88C):c.3636-2A>C
|
|
|
NM_001080414.4(CCDC88C):c.3636-5A>G
|
|
|
NM_001080414.4(CCDC88C):c.3636-7C>G
|
|
|
NM_001080414.4(CCDC88C):c.3636-9C>T
|
|
|
NM_001080414.4(CCDC88C):c.3639C>T (p.His1213=)
|
|
|
NM_001080414.4(CCDC88C):c.3642T>C (p.Gly1214=)
|
|
|
NM_001080414.4(CCDC88C):c.3645C>T (p.Asp1215=)
|
|
|
NM_001080414.4(CCDC88C):c.3677G>A (p.Arg1226Gln)
|
|
|
NM_001080414.4(CCDC88C):c.3686T>A (p.Val1229Asp)
|
|
|
NM_001080414.4(CCDC88C):c.3688T>C (p.Leu1230=)
|
|
|
NM_001080414.4(CCDC88C):c.3699G>A (p.Glu1233=)
|
|
|
NM_001080414.4(CCDC88C):c.369G>T (p.Val123=)
|
|
|
NM_001080414.4(CCDC88C):c.3700C>T (p.Arg1234Ter)
|
|
|
NM_001080414.4(CCDC88C):c.3708G>A (p.Ala1236=)
|
|
|
NM_001080414.4(CCDC88C):c.3718G>C (p.Glu1240Gln)
|
|
|
NM_001080414.4(CCDC88C):c.3732C>T (p.Asn1244=)
|
|
|
NM_001080414.4(CCDC88C):c.3735C>T (p.Ala1245=)
|
|
|
NM_001080414.4(CCDC88C):c.3738C>T (p.Leu1246=)
|
|
|
NM_001080414.4(CCDC88C):c.3739G>A (p.Ala1247Thr)
|
|
|
NM_001080414.4(CCDC88C):c.3754C>T (p.Gln1252Ter)
|
|
|
NM_001080414.4(CCDC88C):c.3760C>T (p.Leu1254=)
|
|
|
NM_001080414.4(CCDC88C):c.3764G>A (p.Arg1255Gln)
|
|
|
NM_001080414.4(CCDC88C):c.3772_3773del (p.Leu1258fs)
|
|
|
NM_001080414.4(CCDC88C):c.3777C>T (p.Asp1259=)
|
|
|
NM_001080414.4(CCDC88C):c.3779+11G>A
|
|
|
NM_001080414.4(CCDC88C):c.3779+12C>T
|
|
|
NM_001080414.4(CCDC88C):c.3779+13G>A
|
|
|
NM_001080414.4(CCDC88C):c.3779+16C>A
|
|
|
NM_001080414.4(CCDC88C):c.3779+16C>T
|
|
|
NM_001080414.4(CCDC88C):c.3779+17G>A
|
|
|
NM_001080414.4(CCDC88C):c.3779+18G>A
|
|
|
NM_001080414.4(CCDC88C):c.3779+1G>A
|
|
|
NM_001080414.4(CCDC88C):c.3779+20C>G
|
|
|
NM_001080414.4(CCDC88C):c.3779+7G>A
|
|
|
NM_001080414.4(CCDC88C):c.3780-10C>T
|
|
|
NM_001080414.4(CCDC88C):c.3780-137del
|
rs5810533
|
|
NM_001080414.4(CCDC88C):c.3780-14T>C
|
|
|
NM_001080414.4(CCDC88C):c.3780-18T>C
|
|
|
NM_001080414.4(CCDC88C):c.3780-7C>T
|
|
|
NM_001080414.4(CCDC88C):c.3780-8T>G
|
|
|
NM_001080414.4(CCDC88C):c.3780-9del
|
|
|
NM_001080414.4(CCDC88C):c.3783C>G (p.Val1261=)
|
|
|
NM_001080414.4(CCDC88C):c.3784A>C (p.Asn1262His)
|
|
|
NM_001080414.4(CCDC88C):c.3785A>G (p.Asn1262Ser)
|
|
|
NM_001080414.4(CCDC88C):c.3790C>T (p.Leu1264=)
|
|
|
NM_001080414.4(CCDC88C):c.3811G>A (p.Glu1271Lys)
|
|
|
NM_001080414.4(CCDC88C):c.3816C>T (p.Tyr1272=)
|
|
|
NM_001080414.4(CCDC88C):c.381G>C (p.Val127=)
|
|
|
NM_001080414.4(CCDC88C):c.3842dup (p.Leu1282fs)
|
|
|
NM_001080414.4(CCDC88C):c.3843G>A (p.Glu1281=)
|
|
|
NM_001080414.4(CCDC88C):c.3846G>A (p.Leu1282=)
|
|
|
NM_001080414.4(CCDC88C):c.3864C>T (p.Asn1288=)
|
|
|
NM_001080414.4(CCDC88C):c.3865G>A (p.Ala1289Thr)
|
|
|
NM_001080414.4(CCDC88C):c.3867G>A (p.Ala1289=)
|
|
|
NM_001080414.4(CCDC88C):c.3867G>T (p.Ala1289=)
|
|
|
NM_001080414.4(CCDC88C):c.3882C>T (p.Asn1294=)
|
rs1596038211
|
|
NM_001080414.4(CCDC88C):c.3887G>A (p.Trp1296Ter)
|
|
|
NM_001080414.4(CCDC88C):c.3903C>T (p.Asp1301=)
|
|
|
NM_001080414.4(CCDC88C):c.390T>C (p.Cys130=)
|
|
|
NM_001080414.4(CCDC88C):c.3921C>T (p.His1307=)
|
|
|
NM_001080414.4(CCDC88C):c.3933C>T (p.Asp1311=)
|
|
|
NM_001080414.4(CCDC88C):c.3939G>A (p.Ser1313=)
|
|
|
NM_001080414.4(CCDC88C):c.3945C>T (p.Thr1315=)
|
|
|
NM_001080414.4(CCDC88C):c.3951G>A (p.Leu1317=)
|
|
|
NM_001080414.4(CCDC88C):c.3954C>T (p.Asp1318=)
|
|
|
NM_001080414.4(CCDC88C):c.3966+10G>C
|
|
|
NM_001080414.4(CCDC88C):c.3966+11C>T
|
|
|
NM_001080414.4(CCDC88C):c.3966+14C>G
|
|
|
NM_001080414.4(CCDC88C):c.3966+14C>T
|
|
|
NM_001080414.4(CCDC88C):c.3966+7C>G
|
|
|
NM_001080414.4(CCDC88C):c.3966+8C>G
|
|
|
NM_001080414.4(CCDC88C):c.3967-13G>A
|
|
|
NM_001080414.4(CCDC88C):c.3967-17G>A
|
|
|
NM_001080414.4(CCDC88C):c.3967-18T>C
|
|
|
NM_001080414.4(CCDC88C):c.3967-18del
|
|
|
NM_001080414.4(CCDC88C):c.3967-19C>T
|
|
|
NM_001080414.4(CCDC88C):c.3967-1G>C
|
|
|
NM_001080414.4(CCDC88C):c.3967-20G>A
|
|
|
NM_001080414.4(CCDC88C):c.3967-4C>G
|
|
|
NM_001080414.4(CCDC88C):c.3967-9G>T
|
|
|
NM_001080414.4(CCDC88C):c.3967C>T (p.Leu1323=)
|
|
|
NM_001080414.4(CCDC88C):c.3976C>T (p.Arg1326Cys)
|
|
|
NM_001080414.4(CCDC88C):c.3987G>C (p.Gly1329=)
|
|
|
NM_001080414.4(CCDC88C):c.399+17G>C
|
|
|
NM_001080414.4(CCDC88C):c.399+7A>G
|
|
|
NM_001080414.4(CCDC88C):c.3999A>G (p.Glu1333=)
|
|
|
NM_001080414.4(CCDC88C):c.400-10C>T
|
|
|
NM_001080414.4(CCDC88C):c.400-14G>A
|
|
|
NM_001080414.4(CCDC88C):c.400-15T>C
|
|
|
NM_001080414.4(CCDC88C):c.400-4G>A
|
|
|
NM_001080414.4(CCDC88C):c.400-4G>T
|
|
|
NM_001080414.4(CCDC88C):c.400-9C>T
|
|
|
NM_001080414.4(CCDC88C):c.4015C>T (p.Leu1339=)
|
|
|
NM_001080414.4(CCDC88C):c.4020C>T (p.Ser1340=)
|
|
|
NM_001080414.4(CCDC88C):c.4023G>A (p.Gln1341=)
|
|
|
NM_001080414.4(CCDC88C):c.4032G>C (p.Leu1344=)
|
|
|
NM_001080414.4(CCDC88C):c.4041G>A (p.Gln1347=)
|
|
|
NM_001080414.4(CCDC88C):c.4050G>A (p.Gln1350=)
|
|
|
NM_001080414.4(CCDC88C):c.4059G>C (p.Leu1353=)
|
|
|
NM_001080414.4(CCDC88C):c.4074G>A (p.Glu1358=)
|
|
|
NM_001080414.4(CCDC88C):c.4077C>T (p.Asn1359=)
|
|
|
NM_001080414.4(CCDC88C):c.4086G>A (p.Gln1362=)
|
|
|
NM_001080414.4(CCDC88C):c.4101G>A (p.Gln1367=)
|
|
|
NM_001080414.4(CCDC88C):c.4105C>T (p.Gln1369Ter)
|
|
|
NM_001080414.4(CCDC88C):c.4111A>G (p.Ile1371Val)
|
|
|
NM_001080414.4(CCDC88C):c.4112+10G>A
|
|
|
NM_001080414.4(CCDC88C):c.4112+12G>C
|
|
|
NM_001080414.4(CCDC88C):c.4112+15C>T
|
|
|
NM_001080414.4(CCDC88C):c.4112+16C>T
|
|
|
NM_001080414.4(CCDC88C):c.4112+19A>G
|
|
|
NM_001080414.4(CCDC88C):c.4112+1G>A
|
|
|
NM_001080414.4(CCDC88C):c.4112+20A>G
|
|
|
NM_001080414.4(CCDC88C):c.4112+6dup
|
|
|
NM_001080414.4(CCDC88C):c.4112+9G>A
|
|
|
NM_001080414.4(CCDC88C):c.4113-10A>G
|
|
|
NM_001080414.4(CCDC88C):c.4113-10A>T
|
|
|
NM_001080414.4(CCDC88C):c.4113-11T>G
|
|
|
NM_001080414.4(CCDC88C):c.4113-14T>C
|
|
|
NM_001080414.4(CCDC88C):c.4113-5C>T
|
rs1596028189
|
|
NM_001080414.4(CCDC88C):c.4132C>T (p.Arg1378Ter)
|
|
|
NM_001080414.4(CCDC88C):c.4136G>C (p.Arg1379Thr)
|
|
|
NM_001080414.4(CCDC88C):c.4143G>A (p.Lys1381=)
|
|
|
NM_001080414.4(CCDC88C):c.4164C>A (p.Ile1388=)
|
|
|
NM_001080414.4(CCDC88C):c.4167G>C (p.Met1389Ile)
|
rs786205489
|
|
NM_001080414.4(CCDC88C):c.4176C>T (p.Tyr1392=)
|
|
|
NM_001080414.4(CCDC88C):c.4188TCC[2] (p.Pro1399del)
|
|
|
NM_001080414.4(CCDC88C):c.4191T>C (p.Pro1397=)
|
|
|
NM_001080414.4(CCDC88C):c.4198A>C (p.Lys1400Gln)
|
|
|
NM_001080414.4(CCDC88C):c.4202+11_4202+16del
|
|
|
NM_001080414.4(CCDC88C):c.4202+16T>A
|
|
|
NM_001080414.4(CCDC88C):c.4202+16T>G
|
|
|
NM_001080414.4(CCDC88C):c.4202+17G>A
|
|
|
NM_001080414.4(CCDC88C):c.4203-15T>C
|
|
|
NM_001080414.4(CCDC88C):c.4203-16A>C
|
|
|
NM_001080414.4(CCDC88C):c.4203-16A>T
|
|
|
NM_001080414.4(CCDC88C):c.4203-17C>T
|
|
|
NM_001080414.4(CCDC88C):c.4203-18del
|
|
|
NM_001080414.4(CCDC88C):c.4203-6A>C
|
|
|
NM_001080414.4(CCDC88C):c.4203-9_4203-7del
|
|
|
NM_001080414.4(CCDC88C):c.4209C>G (p.Asn1403Lys)
|
|
|
NM_001080414.4(CCDC88C):c.4230C>T (p.Ala1410=)
|
|
|
NM_001080414.4(CCDC88C):c.4234G>C (p.Val1412Leu)
|
|
|
NM_001080414.4(CCDC88C):c.4242C>G (p.Leu1414=)
|
|
|
NM_001080414.4(CCDC88C):c.4242C>T (p.Leu1414=)
|
|
|
NM_001080414.4(CCDC88C):c.4256_4257del (p.Lys1419fs)
|
|
|
NM_001080414.4(CCDC88C):c.4266G>A (p.Ser1422=)
|
|
|
NM_001080414.4(CCDC88C):c.4275C>G (p.Arg1425=)
|
|
|
NM_001080414.4(CCDC88C):c.4284C>T (p.Ser1428=)
|
|
|
NM_001080414.4(CCDC88C):c.4286C>T (p.Thr1429Ile)
|
|
|
NM_001080414.4(CCDC88C):c.4288G>A (p.Val1430Met)
|
|
|
NM_001080414.4(CCDC88C):c.4296C>T (p.Ser1432=)
|
|
|
NM_001080414.4(CCDC88C):c.4302C>A (p.Pro1434=)
|
|
|
NM_001080414.4(CCDC88C):c.4302C>T (p.Pro1434=)
|
|
|
NM_001080414.4(CCDC88C):c.4311G>A (p.Leu1437=)
|
|
|
NM_001080414.4(CCDC88C):c.4315T>C (p.Ser1439Pro)
|
|
|
NM_001080414.4(CCDC88C):c.4326C>T (p.Pro1442=)
|
|
|
NM_001080414.4(CCDC88C):c.4332G>A (p.Ser1444=)
|
|
|
NM_001080414.4(CCDC88C):c.4335G>A (p.Pro1445=)
|
|
|
NM_001080414.4(CCDC88C):c.4337C>T (p.Ala1446Val)
|
|
|
NM_001080414.4(CCDC88C):c.4338G>A (p.Ala1446=)
|
|
|
NM_001080414.4(CCDC88C):c.4350G>A (p.Pro1450=)
|
|
|
NM_001080414.4(CCDC88C):c.4353C>T (p.Leu1451=)
|
|
|
NM_001080414.4(CCDC88C):c.4356A>G (p.Arg1452=)
|
|
|
NM_001080414.4(CCDC88C):c.4365C>G (p.Ala1455=)
|
|
|
NM_001080414.4(CCDC88C):c.4365C>T (p.Ala1455=)
|
|
|
NM_001080414.4(CCDC88C):c.4374C>T (p.Pro1458=)
|
|
|
NM_001080414.4(CCDC88C):c.4383C>A (p.Pro1461=)
|
|
|
NM_001080414.4(CCDC88C):c.4383C>T (p.Pro1461=)
|
|
|
NM_001080414.4(CCDC88C):c.4384G>A (p.Ala1462Thr)
|
|
|
NM_001080414.4(CCDC88C):c.4398C>T (p.Asn1466=)
|
|
|
NM_001080414.4(CCDC88C):c.4410G>A (p.Glu1470=)
|
|
|
NM_001080414.4(CCDC88C):c.4413C>T (p.Arg1471=)
|
|
|
NM_001080414.4(CCDC88C):c.4414G>A (p.Asp1472Asn)
|
|
|
NM_001080414.4(CCDC88C):c.4416C>T (p.Asp1472=)
|
|
|
NM_001080414.4(CCDC88C):c.4418C>T (p.Ala1473Val)
|
|
|
NM_001080414.4(CCDC88C):c.441G>A (p.Leu147=)
|
|
|
NM_001080414.4(CCDC88C):c.4425C>T (p.Asn1475=)
|
|
|
NM_001080414.4(CCDC88C):c.4441+12_4441+13insCAGGA
|
|
|
NM_001080414.4(CCDC88C):c.4441+13G>A
|
|
|
NM_001080414.4(CCDC88C):c.4441+15C>A
|
|
|
NM_001080414.4(CCDC88C):c.4441+16C>G
|
|
|
NM_001080414.4(CCDC88C):c.4441+16C>T
|
|
|
NM_001080414.4(CCDC88C):c.4441+18G>C
|
|
|
NM_001080414.4(CCDC88C):c.4441+8C>T
|
|
|
NM_001080414.4(CCDC88C):c.4441+9G>A
|
|
|
NM_001080414.4(CCDC88C):c.4442-14C>T
|
|
|
NM_001080414.4(CCDC88C):c.4442-17G>A
|
|
|
NM_001080414.4(CCDC88C):c.4442-18T>C
|
|
|
NM_001080414.4(CCDC88C):c.4442-19A>G
|
|
|
NM_001080414.4(CCDC88C):c.4442-2A>C
|
|
|
NM_001080414.4(CCDC88C):c.4442-2A>G
|
|
|
NM_001080414.4(CCDC88C):c.444C>T (p.Asp148=)
|
|
|
NM_001080414.4(CCDC88C):c.4459C>T (p.Pro1487Ser)
|
|
|
NM_001080414.4(CCDC88C):c.4485C>T (p.Gly1495=)
|
|
|
NM_001080414.4(CCDC88C):c.4488C>T (p.Ser1496=)
|
|
|
NM_001080414.4(CCDC88C):c.4533del (p.Trp1511fs)
|
|
|
NM_001080414.4(CCDC88C):c.4536C>T (p.Pro1512=)
|
|
|
NM_001080414.4(CCDC88C):c.4538C>T (p.Ser1513Leu)
|
|
|
NM_001080414.4(CCDC88C):c.4539G>A (p.Ser1513=)
|
|
|
NM_001080414.4(CCDC88C):c.4544T>C (p.Leu1515Pro)
|
|
|
NM_001080414.4(CCDC88C):c.4554G>A (p.Arg1518=)
|
|
|
NM_001080414.4(CCDC88C):c.4563A>G (p.Ser1521=)
|
|
|
NM_001080414.4(CCDC88C):c.4583_4630+11del
|
|
|
NM_001080414.4(CCDC88C):c.458C>A (p.Ala153Asp)
|
|
|
NM_001080414.4(CCDC88C):c.4602C>A (p.Pro1534=)
|
|
|
NM_001080414.4(CCDC88C):c.4605C>T (p.Ile1535=)
|
|
|
NM_001080414.4(CCDC88C):c.4607C>A (p.Ala1536Asp)
|
|
|
NM_001080414.4(CCDC88C):c.4626C>T (p.Thr1542=)
|
|
|
NM_001080414.4(CCDC88C):c.4630+10A>G
|
|
|
NM_001080414.4(CCDC88C):c.4630+12G>A
|
|
|
NM_001080414.4(CCDC88C):c.4630+15del
|
|
|
NM_001080414.4(CCDC88C):c.4631-14T>C
|
|
|
NM_001080414.4(CCDC88C):c.4631-18G>A
|
|
|
NM_001080414.4(CCDC88C):c.4631-5C>T
|
|
|
NM_001080414.4(CCDC88C):c.4638C>T (p.Asn1546=)
|
|
|
NM_001080414.4(CCDC88C):c.465C>T (p.Ile155=)
|
|
|
NM_001080414.4(CCDC88C):c.4662A>G (p.Pro1554=)
|
|
|
NM_001080414.4(CCDC88C):c.4662A>T (p.Pro1554=)
|
|
|
NM_001080414.4(CCDC88C):c.4665C>T (p.Ser1555=)
|
|
|
NM_001080414.4(CCDC88C):c.4686C>T (p.Asn1562=)
|
|
|
NM_001080414.4(CCDC88C):c.4694A>G (p.Gln1565Arg)
|
|
|
NM_001080414.4(CCDC88C):c.4699+10G>A
|
|
|
NM_001080414.4(CCDC88C):c.4699+19G>A
|
|
|
NM_001080414.4(CCDC88C):c.4699+9G>A
|
|
|
NM_001080414.4(CCDC88C):c.4700-11T>C
|
|
|
NM_001080414.4(CCDC88C):c.4700-12A>G
|
|
|
NM_001080414.4(CCDC88C):c.4700-13C>T
|
|
|
NM_001080414.4(CCDC88C):c.4700-14C>A
|
|
|
NM_001080414.4(CCDC88C):c.4700-15G>A
|
|
|
NM_001080414.4(CCDC88C):c.4700-17C>T
|
|
|
NM_001080414.4(CCDC88C):c.4700-19C>T
|
|
|
NM_001080414.4(CCDC88C):c.4700-20A>G
|
|
|
NM_001080414.4(CCDC88C):c.4704G>A (p.Ser1568=)
|
|
|
NM_001080414.4(CCDC88C):c.4710A>G (p.Pro1570=)
|
|
|
NM_001080414.4(CCDC88C):c.4717T>C (p.Leu1573=)
|
|
|
NM_001080414.4(CCDC88C):c.471C>G (p.Ala157=)
|
|
|
NM_001080414.4(CCDC88C):c.4725C>T (p.Ser1575=)
|
|
|
NM_001080414.4(CCDC88C):c.4734C>T (p.Asn1578=)
|
|
|
NM_001080414.4(CCDC88C):c.4746C>T (p.Asn1582=)
|
|
|
NM_001080414.4(CCDC88C):c.4749C>T (p.Ser1583=)
|
|
|
NM_001080414.4(CCDC88C):c.4768+12G>A
|
|
|
NM_001080414.4(CCDC88C):c.4768+1G>A
|
|
|
NM_001080414.4(CCDC88C):c.4769-11C>T
|
|
|
NM_001080414.4(CCDC88C):c.4769-12C>G
|
|
|
NM_001080414.4(CCDC88C):c.4769-17C>T
|
|
|
NM_001080414.4(CCDC88C):c.4776C>T (p.Ser1592=)
|
|
|
NM_001080414.4(CCDC88C):c.4788T>C (p.His1596=)
|
|
|
NM_001080414.4(CCDC88C):c.4812C>T (p.Ser1604=)
|
|
|
NM_001080414.4(CCDC88C):c.4825C>A (p.Pro1609Thr)
|
|
|
NM_001080414.4(CCDC88C):c.4827C>T (p.Pro1609=)
|
|
|
NM_001080414.4(CCDC88C):c.483+16C>T
|
|
|
NM_001080414.4(CCDC88C):c.483+17G>A
|
|
|
NM_001080414.4(CCDC88C):c.483+17G>T
|
|
|
NM_001080414.4(CCDC88C):c.483+20G>C
|
|
|
NM_001080414.4(CCDC88C):c.483+9G>A
|
|
|
NM_001080414.4(CCDC88C):c.4839G>A (p.Leu1613=)
|
|
|
NM_001080414.4(CCDC88C):c.484-12G>A
|
|
|
NM_001080414.4(CCDC88C):c.484-13T>C
|
|
|
NM_001080414.4(CCDC88C):c.484-144C>A
|
rs17127258
|
|
NM_001080414.4(CCDC88C):c.484-15C>T
|
|
|
NM_001080414.4(CCDC88C):c.484-17G>T
|
|
|
NM_001080414.4(CCDC88C):c.484-18T>G
|
|
|
NM_001080414.4(CCDC88C):c.484-8G>C
|
|
|
NM_001080414.4(CCDC88C):c.4849C>A (p.Pro1617Thr)
|
|
|
NM_001080414.4(CCDC88C):c.4866A>G (p.Thr1622=)
|
|
|
NM_001080414.4(CCDC88C):c.4866A>T (p.Thr1622=)
|
|
|
NM_001080414.4(CCDC88C):c.4869G>A (p.Pro1623=)
|
|
|
NM_001080414.4(CCDC88C):c.4879G>A (p.Ala1627Thr)
|
|
|
NM_001080414.4(CCDC88C):c.4884C>T (p.Leu1628=)
|
|
|
NM_001080414.4(CCDC88C):c.4885G>A (p.Gly1629Ser)
|
|
|
NM_001080414.4(CCDC88C):c.4889G>T (p.Arg1630Leu)
|
|
|
NM_001080414.4(CCDC88C):c.4893C>T (p.His1631=)
|
|
|
NM_001080414.4(CCDC88C):c.4911G>A (p.Arg1637=)
|
|
|
NM_001080414.4(CCDC88C):c.4914C>T (p.Asn1638=)
|
|
|
NM_001080414.4(CCDC88C):c.4929G>A (p.Gln1643=)
|
|
|
NM_001080414.4(CCDC88C):c.4932G>A (p.Glu1644=)
|
|
|
NM_001080414.4(CCDC88C):c.4956C>G (p.Ala1652=)
|
|
|
NM_001080414.4(CCDC88C):c.4959T>C (p.Pro1653=)
|
|
|
NM_001080414.4(CCDC88C):c.4962C>T (p.Pro1654=)
|
|
|
NM_001080414.4(CCDC88C):c.4965C>T (p.Tyr1655=)
|
|
|
NM_001080414.4(CCDC88C):c.4968C>T (p.Val1656=)
|
|
|
NM_001080414.4(CCDC88C):c.4986G>A (p.Ser1662=)
|
|
|
NM_001080414.4(CCDC88C):c.498A>G (p.Gln166=)
|
|
|
NM_001080414.4(CCDC88C):c.4992C>A (p.Ser1664=)
|
|
|
NM_001080414.4(CCDC88C):c.4992C>T (p.Ser1664=)
|
|
|
NM_001080414.4(CCDC88C):c.4995C>T (p.Pro1665=)
|
|
|
NM_001080414.4(CCDC88C):c.4998C>T (p.Ser1666=)
|
|
|
NM_001080414.4(CCDC88C):c.5004_5005dup (p.Met1669fs)
|
|
|
NM_001080414.4(CCDC88C):c.5016G>A (p.Leu1672=)
|
|
|
NM_001080414.4(CCDC88C):c.5031G>A (p.Glu1677=)
|
|
|
NM_001080414.4(CCDC88C):c.5034G>A (p.Glu1678=)
|
|
|
NM_001080414.4(CCDC88C):c.5040C>T (p.Asn1680=)
|
|
|
NM_001080414.4(CCDC88C):c.5041C>T (p.Arg1681Cys)
|
|
|
NM_001080414.4(CCDC88C):c.5049C>T (p.Ser1683=)
|
|
|
NM_001080414.4(CCDC88C):c.5058+11C>T
|
|
|
NM_001080414.4(CCDC88C):c.5058+12G>A
|
|
|
NM_001080414.4(CCDC88C):c.5058+12G>C
|
|
|
NM_001080414.4(CCDC88C):c.5058+17C>T
|
|
|
NM_001080414.4(CCDC88C):c.5058+18G>A
|
|
|
NM_001080414.4(CCDC88C):c.5058+19G>C
|
|
|
NM_001080414.4(CCDC88C):c.5058+20A>G
|
|
|
NM_001080414.4(CCDC88C):c.5059-10T>C
|
|
|
NM_001080414.4(CCDC88C):c.5059-11C>T
|
|
|
NM_001080414.4(CCDC88C):c.5059-11del
|
|
|
NM_001080414.4(CCDC88C):c.5059-12T>A
|
|
|
NM_001080414.4(CCDC88C):c.5059-12T>G
|
|
|
NM_001080414.4(CCDC88C):c.5059-13C>T
|
|
|
NM_001080414.4(CCDC88C):c.5059-15CT[2]
|
|
|
NM_001080414.4(CCDC88C):c.5059-34_5059-16dup
|
|
|
NM_001080414.4(CCDC88C):c.5059-4G>C
|
|
|
NM_001080414.4(CCDC88C):c.5059-5C>T
|
|
|
NM_001080414.4(CCDC88C):c.5059-5_5059-4insT
|
|
|
NM_001080414.4(CCDC88C):c.5059G>A (p.Asp1687Asn)
|
|
|
NM_001080414.4(CCDC88C):c.5066C>G (p.Pro1689Arg)
|
|
|
NM_001080414.4(CCDC88C):c.5067C>A (p.Pro1689=)
|
|
|
NM_001080414.4(CCDC88C):c.5076G>A (p.Arg1692=)
|
|
|
NM_001080414.4(CCDC88C):c.5086C>T (p.Leu1696=)
|
|
|
NM_001080414.4(CCDC88C):c.5090G>A (p.Ser1697Asn)
|
|
|
NM_001080414.4(CCDC88C):c.5101C>T (p.Arg1701Ter)
|
|
|
NM_001080414.4(CCDC88C):c.5106G>A (p.Lys1702=)
|
|
|
NM_001080414.4(CCDC88C):c.5113G>A (p.Asp1705Asn)
|
|
|
NM_001080414.4(CCDC88C):c.5114A>T (p.Asp1705Val)
|
|
|
NM_001080414.4(CCDC88C):c.5116C>T (p.Pro1706Ser)
|
|
|
NM_001080414.4(CCDC88C):c.5120dup (p.Ala1708fs)
|
|
|
NM_001080414.4(CCDC88C):c.5127C>T (p.Ile1709=)
|
|
|
NM_001080414.4(CCDC88C):c.5134C>T (p.Gln1712Ter)
|
|
|
NM_001080414.4(CCDC88C):c.5145A>C (p.Pro1715=)
|
|
|
NM_001080414.4(CCDC88C):c.5151C>T (p.Ala1717=)
|
|
|
NM_001080414.4(CCDC88C):c.5161G>A (p.Gly1721Arg)
|
|
|
NM_001080414.4(CCDC88C):c.5163G>A (p.Gly1721=)
|
|
|
NM_001080414.4(CCDC88C):c.5181C>T (p.Asn1727=)
|
|
|
NM_001080414.4(CCDC88C):c.5193C>T (p.Pro1731=)
|
|
|
NM_001080414.4(CCDC88C):c.5196C>T (p.Thr1732=)
|
|
|
NM_001080414.4(CCDC88C):c.5197G>A (p.Val1733Ile)
|
|
|
NM_001080414.4(CCDC88C):c.5208C>T (p.Ala1736=)
|
|
|
NM_001080414.4(CCDC88C):c.5209G>A (p.Ala1737Thr)
|
|
|
NM_001080414.4(CCDC88C):c.5217C>A (p.Thr1739=)
|
|
|
NM_001080414.4(CCDC88C):c.5219C>G (p.Ser1740Trp)
|
rs766112055
|
|
NM_001080414.4(CCDC88C):c.5220G>A (p.Ser1740=)
|
|
|
NM_001080414.4(CCDC88C):c.5232G>A (p.Pro1744=)
|
|
|
NM_001080414.4(CCDC88C):c.5234_5235dup (p.Lys1746Ter)
|
|
|
NM_001080414.4(CCDC88C):c.5241C>G (p.Pro1747=)
|
|
|
NM_001080414.4(CCDC88C):c.5241C>T (p.Pro1747=)
|
|
|
NM_001080414.4(CCDC88C):c.5251del (p.Tyr1750_Val1751insTer)
|
|
|
NM_001080414.4(CCDC88C):c.5253A>G (p.Val1751=)
|
|
|
NM_001080414.4(CCDC88C):c.5265C>T (p.Phe1755=)
|
|
|
NM_001080414.4(CCDC88C):c.5271G>A (p.Leu1757=)
|
|
|
NM_001080414.4(CCDC88C):c.5273_5276del (p.Thr1758fs)
|
|
|
NM_001080414.4(CCDC88C):c.5280C>G (p.Ala1760=)
|
|
|
NM_001080414.4(CCDC88C):c.5280C>T (p.Ala1760=)
|
|
|
NM_001080414.4(CCDC88C):c.5292C>T (p.Pro1764=)
|
|
|
NM_001080414.4(CCDC88C):c.5294G>C (p.Ser1765Thr)
|
|
|
NM_001080414.4(CCDC88C):c.5295C>T (p.Ser1765=)
|
|
|
NM_001080414.4(CCDC88C):c.5295_5325del (p.Ser1765fs)
|
|
|
NM_001080414.4(CCDC88C):c.5303del (p.Pro1768fs)
|
|
|
NM_001080414.4(CCDC88C):c.5304G>A (p.Pro1768=)
|
|
|
NM_001080414.4(CCDC88C):c.5308C>T (p.Gln1770Ter)
|
|
|
NM_001080414.4(CCDC88C):c.5322C>T (p.Pro1774=)
|
|
|
NM_001080414.4(CCDC88C):c.5331G>A (p.Leu1777=)
|
|
|
NM_001080414.4(CCDC88C):c.5334T>C (p.Ser1778=)
|
|
|
NM_001080414.4(CCDC88C):c.5337G>A (p.Leu1779=)
|
|
|
NM_001080414.4(CCDC88C):c.5358G>A (p.Pro1786=)
|
|
|
NM_001080414.4(CCDC88C):c.5373_5378del (p.His1792_Ala1793del)
|
|
|
NM_001080414.4(CCDC88C):c.5378C>G (p.Ala1793Gly)
|
|
|
NM_001080414.4(CCDC88C):c.537C>T (p.Asp179=)
|
|
|
NM_001080414.4(CCDC88C):c.5385del (p.Ser1796fs)
|
|
|
NM_001080414.4(CCDC88C):c.5389C>A (p.Arg1797Ser)
|
|
|
NM_001080414.4(CCDC88C):c.5401T>C (p.Leu1801=)
|
|
|
NM_001080414.4(CCDC88C):c.5412C>G (p.Ala1804=)
|
|
|
NM_001080414.4(CCDC88C):c.5424C>T (p.Ala1808=)
|
|
|
NM_001080414.4(CCDC88C):c.5436_5438del (p.Leu1813del)
|
|
|
NM_001080414.4(CCDC88C):c.5439C>T (p.Leu1813=)
|
|
|
NM_001080414.4(CCDC88C):c.5445C>A (p.Ala1815=)
|
|
|
NM_001080414.4(CCDC88C):c.5448C>T (p.Ser1816=)
|
|
|
NM_001080414.4(CCDC88C):c.5450G>T (p.Gly1817Val)
|
|
|
NM_001080414.4(CCDC88C):c.5460C>T (p.Ala1820=)
|
|
|
NM_001080414.4(CCDC88C):c.546G>A (p.Pro182=)
|
|
|
NM_001080414.4(CCDC88C):c.546G>C (p.Pro182=)
|
|
|
NM_001080414.4(CCDC88C):c.5484G>A (p.Lys1828=)
|
|
|
NM_001080414.4(CCDC88C):c.5492C>T (p.Ala1831Val)
|
|
|
NM_001080414.4(CCDC88C):c.5496_5506del (p.Glu1833fs)
|
|
|
NM_001080414.4(CCDC88C):c.5511C>T (p.Gly1837=)
|
|
|
NM_001080414.4(CCDC88C):c.5515G>C (p.Glu1839Gln)
|
rs2140903952
|
|
NM_001080414.4(CCDC88C):c.5518_5521del (p.Thr1840fs)
|
|
|
NM_001080414.4(CCDC88C):c.5522_5525del (p.Gly1841fs)
|
|
|
NM_001080414.4(CCDC88C):c.5535G>A (p.Leu1845=)
|
|
|
NM_001080414.4(CCDC88C):c.5537A>C (p.Gln1846Pro)
|
rs1596008488
|
|
NM_001080414.4(CCDC88C):c.5544C>T (p.Pro1848=)
|
|
|
NM_001080414.4(CCDC88C):c.5545G>A (p.Ala1849Thr)
|
|
|
NM_001080414.4(CCDC88C):c.5547A>G (p.Ala1849=)
|
|
|
NM_001080414.4(CCDC88C):c.5553C>A (p.Pro1851=)
|
|
|
NM_001080414.4(CCDC88C):c.5562_5563del (p.His1854fs)
|
|
|
NM_001080414.4(CCDC88C):c.5575G>T (p.Glu1859Ter)
|
|
|
NM_001080414.4(CCDC88C):c.5577G>A (p.Glu1859=)
|
|
|
NM_001080414.4(CCDC88C):c.5578C>T (p.Arg1860Trp)
|
|
|
NM_001080414.4(CCDC88C):c.5583C>T (p.Thr1861=)
|
|
|
NM_001080414.4(CCDC88C):c.558G>A (p.Glu186=)
|
|
|
NM_001080414.4(CCDC88C):c.5592G>A (p.Val1864=)
|
|
|
NM_001080414.4(CCDC88C):c.5597del (p.Lys1866fs)
|
|
|
NM_001080414.4(CCDC88C):c.5601T>C (p.Ala1867=)
|
|
|
NM_001080414.4(CCDC88C):c.5613T>A (p.Cys1871Ter)
|
|
|
NM_001080414.4(CCDC88C):c.5619C>T (p.Gly1873=)
|
|
|
NM_001080414.4(CCDC88C):c.5631C>A (p.Arg1877=)
|
|
|
NM_001080414.4(CCDC88C):c.5640G>A (p.Pro1880=)
|
|
|
NM_001080414.4(CCDC88C):c.5649G>A (p.Thr1883=)
|
|
|
NM_001080414.4(CCDC88C):c.5661C>A (p.Ser1887=)
|
|
|
NM_001080414.4(CCDC88C):c.5662C>T (p.Leu1888=)
|
|
|
NM_001080414.4(CCDC88C):c.5668C>A (p.Pro1890Thr)
|
|
|
NM_001080414.4(CCDC88C):c.5675A>C (p.Lys1892Thr)
|
|
|
NM_001080414.4(CCDC88C):c.5675dup (p.Glu1893fs)
|
|
|
NM_001080414.4(CCDC88C):c.5676G>A (p.Lys1892=)
|
|
|
NM_001080414.4(CCDC88C):c.567G>A (p.Ser189=)
|
|
|
NM_001080414.4(CCDC88C):c.5688G>A (p.Leu1896=)
|
|
|
NM_001080414.4(CCDC88C):c.5692C>T (p.Pro1898Ser)
|
|
|
NM_001080414.4(CCDC88C):c.5694C>A (p.Pro1898=)
|
|
|
NM_001080414.4(CCDC88C):c.5694C>G (p.Pro1898=)
|
|
|
NM_001080414.4(CCDC88C):c.5695del (p.Leu1899fs)
|
rs1396400378
|
|
NM_001080414.4(CCDC88C):c.5709C>T (p.Ala1903=)
|
|
|
NM_001080414.4(CCDC88C):c.5718C>G (p.Pro1906=)
|
|
|
NM_001080414.4(CCDC88C):c.5718C>T (p.Pro1906=)
|
|
|
NM_001080414.4(CCDC88C):c.5757C>T (p.Gly1919=)
|
|
|
NM_001080414.4(CCDC88C):c.5772C>T (p.Ser1924=)
|
|
|
NM_001080414.4(CCDC88C):c.5777T>G (p.Leu1926Arg)
|
|
|
NM_001080414.4(CCDC88C):c.5778C>G (p.Leu1926=)
|
|
|
NM_001080414.4(CCDC88C):c.5787C>T (p.Phe1929=)
|
|
|
NM_001080414.4(CCDC88C):c.5799A>C (p.Ala1933=)
|
|
|
NM_001080414.4(CCDC88C):c.5802C>T (p.Ala1934=)
|
|
|
NM_001080414.4(CCDC88C):c.5805G>C (p.Pro1935=)
|
|
|
NM_001080414.4(CCDC88C):c.5811C>T (p.Ala1937=)
|
|
|
NM_001080414.4(CCDC88C):c.5817C>T (p.Thr1939=)
|
|
|
NM_001080414.4(CCDC88C):c.5829G>A (p.Ala1943=)
|
|
|
NM_001080414.4(CCDC88C):c.5829G>T (p.Ala1943=)
|
|
|
NM_001080414.4(CCDC88C):c.5834del (p.Pro1945fs)
|
|
|
NM_001080414.4(CCDC88C):c.5841A>G (p.Ser1947=)
|
|
|
NM_001080414.4(CCDC88C):c.585C>T (p.His195=)
|
|
|
NM_001080414.4(CCDC88C):c.5861C>A (p.Thr1954Asn)
|
|
|
NM_001080414.4(CCDC88C):c.5869C>T (p.Arg1957Trp)
|
|
|
NM_001080414.4(CCDC88C):c.586C>T (p.Leu196=)
|
|
|
NM_001080414.4(CCDC88C):c.5877G>A (p.Gly1959=)
|
|
|
NM_001080414.4(CCDC88C):c.5894G>A (p.Gly1965Glu)
|
|
|
NM_001080414.4(CCDC88C):c.5898C>T (p.Asp1966=)
|
|
|
NM_001080414.4(CCDC88C):c.589C>T (p.Arg197Trp)
|
|
|
NM_001080414.4(CCDC88C):c.5904C>T (p.Val1968=)
|
|
|
NM_001080414.4(CCDC88C):c.5907G>A (p.Pro1969=)
|
|
|
NM_001080414.4(CCDC88C):c.5916C>A (p.Gly1972=)
|
|
|
NM_001080414.4(CCDC88C):c.5922T>G (p.Ser1974Arg)
|
|
|
NM_001080414.4(CCDC88C):c.5924_5925del (p.Glu1975fs)
|
|
|
NM_001080414.4(CCDC88C):c.5925G>A (p.Glu1975=)
|
|
|
NM_001080414.4(CCDC88C):c.5927G>C (p.Gly1976Ala)
|
|
|
NM_001080414.4(CCDC88C):c.5928G>A (p.Gly1976=)
|
|
|
NM_001080414.4(CCDC88C):c.5933C>T (p.Pro1978Leu)
|
|
|
NM_001080414.4(CCDC88C):c.5934G>C (p.Pro1978=)
|
|
|
NM_001080414.4(CCDC88C):c.5936C>T (p.Ala1979Val)
|
|
|
NM_001080414.4(CCDC88C):c.5950C>T (p.Arg1984Trp)
|
|
|
NM_001080414.4(CCDC88C):c.5954C>G (p.Ser1985Cys)
|
rs3814839
|
|
NM_001080414.4(CCDC88C):c.5958C>T (p.Pro1986=)
|
|
|
NM_001080414.4(CCDC88C):c.5970C>A (p.Pro1990=)
|
|
|
NM_001080414.4(CCDC88C):c.5970C>T (p.Pro1990=)
|
|
|
NM_001080414.4(CCDC88C):c.5975_5976delinsCG (p.Leu1992Pro)
|
|
|
NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro)
|
rs1555413299
|
|
NM_001080414.4(CCDC88C):c.597C>T (p.Leu199=)
|
|
|
NM_001080414.4(CCDC88C):c.5980C>A (p.Arg1994=)
|
|
|
NM_001080414.4(CCDC88C):c.5981G>A (p.Arg1994Gln)
|
|
|
NM_001080414.4(CCDC88C):c.5981G>T (p.Arg1994Leu)
|
|
|
NM_001080414.4(CCDC88C):c.5988G>A (p.Leu1996=)
|
|
|
NM_001080414.4(CCDC88C):c.5997C>T (p.Cys1999=)
|
|
|
NM_001080414.4(CCDC88C):c.6009C>T (p.Ser2003=)
|
|
|
NM_001080414.4(CCDC88C):c.600C>T (p.Ile200=)
|
|
|
NM_001080414.4(CCDC88C):c.6010G>A (p.Val2004Ile)
|
|
|
NM_001080414.4(CCDC88C):c.6012C>A (p.Val2004=)
|
|
|
NM_001080414.4(CCDC88C):c.6018G>A (p.Lys2006=)
|
|
|
NM_001080414.4(CCDC88C):c.601G>A (p.Asp201Asn)
|
|
|
NM_001080414.4(CCDC88C):c.6036G>A (p.Pro2012=)
|
|
|
NM_001080414.4(CCDC88C):c.6042C>T (p.Pro2014=)
|
|
|
NM_001080414.4(CCDC88C):c.6045C>G (p.Gly2015=)
|
|
|
NM_001080414.4(CCDC88C):c.6045C>T (p.Gly2015=)
|
|
|
NM_001080414.4(CCDC88C):c.6046G>A (p.Gly2016Arg)
|
|
|
NM_001080414.4(CCDC88C):c.6054G>A (p.Pro2018=)
|
|
|
NM_001080414.4(CCDC88C):c.6054G>T (p.Pro2018=)
|
|
|
NM_001080414.4(CCDC88C):c.6060C>T (p.Thr2020=)
|
|
|
NM_001080414.4(CCDC88C):c.606G>A (p.Gln202=)
|
|
|
NM_001080414.4(CCDC88C):c.6075C>T (p.Tyr2025=)
|
|
|
NM_001080414.4(CCDC88C):c.6078C>T (p.Gly2026=)
|
|
|
NM_001080414.4(CCDC88C):c.6081T>C (p.Cys2027=)
|
|
|
NM_001080414.4(CCDC88C):c.61-10C>A
|
|
|
NM_001080414.4(CCDC88C):c.61-10dup
|
|
|
NM_001080414.4(CCDC88C):c.61-14C>G
|
|
|
NM_001080414.4(CCDC88C):c.61-16G>A
|
|
|
NM_001080414.4(CCDC88C):c.61-16G>T
|
|
|
NM_001080414.4(CCDC88C):c.61-182G>T
|
rs1285845
|
|
NM_001080414.4(CCDC88C):c.61-5C>G
|
|
|
NM_001080414.4(CCDC88C):c.61-5C>T
|
|
|
NM_001080414.4(CCDC88C):c.61-8C>G
|
|
|
NM_001080414.4(CCDC88C):c.61-8C>T
|
|
|
NM_001080414.4(CCDC88C):c.612C>T (p.Asp204=)
|
|
|
NM_001080414.4(CCDC88C):c.624+10C>T
|
|
|
NM_001080414.4(CCDC88C):c.624+24G>T
|
rs12883434
|
|
NM_001080414.4(CCDC88C):c.624+8C>T
|
|
|
NM_001080414.4(CCDC88C):c.624+9G>A
|
|
|
NM_001080414.4(CCDC88C):c.625-10C>T
|
|
|
NM_001080414.4(CCDC88C):c.625-11C>T
|
|
|
NM_001080414.4(CCDC88C):c.625-14C>A
|
|
|
NM_001080414.4(CCDC88C):c.625-14C>T
|
|
|
NM_001080414.4(CCDC88C):c.625-16C>T
|
|
|
NM_001080414.4(CCDC88C):c.625-17T>C
|
|
|
NM_001080414.4(CCDC88C):c.625-18C>G
|
|
|
NM_001080414.4(CCDC88C):c.625-18C>T
|
|
|
NM_001080414.4(CCDC88C):c.625-18CT[2]
|
|
|
NM_001080414.4(CCDC88C):c.625-19C>G
|
|
|
NM_001080414.4(CCDC88C):c.625-20C>T
|
|
|
NM_001080414.4(CCDC88C):c.625-9C>G
|
|
|
NM_001080414.4(CCDC88C):c.625-9C>T
|
|
|
NM_001080414.4(CCDC88C):c.630C>T (p.Ile210=)
|
|
|
NM_001080414.4(CCDC88C):c.633G>A (p.Val211=)
|
|
|
NM_001080414.4(CCDC88C):c.654C>T (p.Asp218=)
|
|
|
NM_001080414.4(CCDC88C):c.663G>A (p.Gln221=)
|
|
|
NM_001080414.4(CCDC88C):c.686T>C (p.Ile229Thr)
|
rs1064795357
|
|
NM_001080414.4(CCDC88C):c.690G>T (p.Lys230Asn)
|
|
|
NM_001080414.4(CCDC88C):c.696C>G (p.Ser232=)
|
|
|
NM_001080414.4(CCDC88C):c.710C>T (p.Thr237Ile)
|
|
|
NM_001080414.4(CCDC88C):c.720C>T (p.Pro240=)
|
|
|
NM_001080414.4(CCDC88C):c.720del (p.Thr241fs)
|
|
|
NM_001080414.4(CCDC88C):c.738C>T (p.Ser246=)
|
|
|
NM_001080414.4(CCDC88C):c.756G>A (p.Leu252=)
|
|
|
NM_001080414.4(CCDC88C):c.759C>T (p.Ala253=)
|
|
|
NM_001080414.4(CCDC88C):c.760G>A (p.Val254Ile)
|
|
|
NM_001080414.4(CCDC88C):c.768G>A (p.Leu256=)
|
|
|
NM_001080414.4(CCDC88C):c.771C>T (p.Ala257=)
|
|
|
NM_001080414.4(CCDC88C):c.772G>T (p.Asp258Tyr)
|
rs770482247
|
|
NM_001080414.4(CCDC88C):c.783C>G (p.Ala261=)
|
|
|
NM_001080414.4(CCDC88C):c.78G>T (p.Pro26=)
|
|
|
NM_001080414.4(CCDC88C):c.794G>A (p.Arg265His)
|
|
|
NM_001080414.4(CCDC88C):c.795C>T (p.Arg265=)
|
|
|
NM_001080414.4(CCDC88C):c.809+10C>T
|
|
|
NM_001080414.4(CCDC88C):c.809+14T>C
|
|
|
NM_001080414.4(CCDC88C):c.809+18T>G
|
|
|
NM_001080414.4(CCDC88C):c.809+19C>T
|
|
|
NM_001080414.4(CCDC88C):c.809+20T>G
|
|
|
NM_001080414.4(CCDC88C):c.810-14T>A
|
|
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NM_001080414.4(CCDC88C):c.810-17C>T
|
|
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NM_001080414.4(CCDC88C):c.810-1G>A
|
|
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NM_001080414.4(CCDC88C):c.810-8C>T
|
|
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NM_001080414.4(CCDC88C):c.825G>A (p.Glu275=)
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NM_001080414.4(CCDC88C):c.82G>A (p.Gly28Arg)
|
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NM_001080414.4(CCDC88C):c.834G>A (p.Val278=)
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NM_001080414.4(CCDC88C):c.844C>G (p.His282Asp)
|
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NM_001080414.4(CCDC88C):c.852G>A (p.Val284=)
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NM_001080414.4(CCDC88C):c.858G>A (p.Gln286=)
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NM_001080414.4(CCDC88C):c.867G>A (p.Leu289=)
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NM_001080414.4(CCDC88C):c.873G>A (p.Leu291=)
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NM_001080414.4(CCDC88C):c.87C>T (p.Ser29=)
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NM_001080414.4(CCDC88C):c.891+10G>A
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NM_001080414.4(CCDC88C):c.891+11G>A
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NM_001080414.4(CCDC88C):c.891+11G>T
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NM_001080414.4(CCDC88C):c.891+12G>A
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NM_001080414.4(CCDC88C):c.891+17A>T
|
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NM_001080414.4(CCDC88C):c.891+7C>A
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NM_001080414.4(CCDC88C):c.891+9G>A
|
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NM_001080414.4(CCDC88C):c.892-18C>T
|
|
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NM_001080414.4(CCDC88C):c.892-7C>G
|
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NM_001080414.4(CCDC88C):c.909A>G (p.Ala303=)
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NM_001080414.4(CCDC88C):c.90C>T (p.Gly30=)
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NM_001080414.4(CCDC88C):c.913G>C (p.Ala305Pro)
|
rs755409670
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NM_001080414.4(CCDC88C):c.915C>T (p.Ala305=)
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NM_001080414.4(CCDC88C):c.916C>A (p.Arg306=)
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NM_001080414.4(CCDC88C):c.927T>C (p.Arg309=)
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NM_001080414.4(CCDC88C):c.934C>A (p.Arg312=)
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NM_001080414.4(CCDC88C):c.934C>G (p.Arg312Gly)
|
rs369384363
|
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NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter)
|
rs369384363
|
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NM_001080414.4(CCDC88C):c.936A>G (p.Arg312=)
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|
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NM_001080414.4(CCDC88C):c.939C>T (p.Asp313=)
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NM_001080414.4(CCDC88C):c.954G>A (p.Leu318=)
|
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NM_001080414.4(CCDC88C):c.955C>A (p.Arg319=)
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|
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NM_001080414.4(CCDC88C):c.966G>A (p.Ala322=)
|
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|
NM_001080414.4(CCDC88C):c.973G>T (p.Val325Leu)
|
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NM_001080414.4(CCDC88C):c.982C>T (p.Leu328=)
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|
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NM_001080414.4(CCDC88C):c.994C>T (p.Leu332=)
|
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NM_001080414.4(CCDC88C):c.996G>C (p.Leu332=)
|
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