NM_014425.5(INVS):c.3091+94T>G
|
rs3813712
|
0.70444
|
NM_014425.5(INVS):c.3016+48A>G
|
rs7864494
|
0.67174
|
NM_014425.5(INVS):c.1235-171C>T
|
rs1338121
|
0.53441
|
NM_014425.5(INVS):c.2412T>C (p.Ser804=)
|
rs2787374
|
0.53208
|
NM_014425.5(INVS):c.615+227C>T
|
rs2806684
|
0.53077
|
NM_014425.5(INVS):c.616-273C>T
|
rs9299337
|
0.31020
|
NM_014425.5(INVS):c.1235-5T>C
|
rs2245216
|
0.30271
|
NM_014425.5(INVS):c.274-110G>A
|
rs56840267
|
0.18848
|
NM_014425.5(INVS):c.615+292A>G
|
rs7029981
|
0.18836
|
NM_014425.5(INVS):c.615+221C>T
|
rs11789335
|
0.18793
|
NM_014425.5(INVS):c.274-15_274-14del
|
rs61147858
|
0.18785
|
NM_014425.5(INVS):c.274-316A>T
|
rs57734783
|
0.18721
|
NM_014425.5(INVS):c.274-308_274-307insG
|
rs11384901
|
0.18702
|
NM_014425.5(INVS):c.2068+31G>A
|
rs11790431
|
0.18400
|
NM_014425.5(INVS):c.797-306T>C
|
rs10989027
|
0.18235
|
NM_014425.5(INVS):c.2787-23C>G
|
rs41274951
|
0.13745
|
NM_014425.5(INVS):c.2787-268C>T
|
rs10989047
|
0.13349
|
NM_014425.5(INVS):c.1571+237G>A
|
rs75959792
|
0.04344
|
NM_014425.5(INVS):c.273+46C>T
|
rs76975466
|
0.03524
|
NM_014425.5(INVS):c.2402G>A (p.Gly801Glu)
|
rs76868679
|
0.02854
|
NM_014425.5(INVS):c.616-19T>C
|
rs78038572
|
0.01891
|
NM_014425.5(INVS):c.*467A>T
|
rs10819755
|
0.00948
|
NM_014425.5(INVS):c.2069-278C>A
|
rs146454439
|
0.00863
|
NM_014425.5(INVS):c.-155C>T
|
rs62577237
|
0.00805
|
NM_014425.5(INVS):c.102C>T (p.Ile34=)
|
rs115640267
|
0.00549
|
NM_014425.5(INVS):c.740A>G (p.Asn247Ser)
|
rs41312220
|
0.00526
|
NM_014425.5(INVS):c.725C>T (p.Ser242Leu)
|
rs2491097
|
0.00485
|
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro)
|
rs147452898
|
0.00394
|
NM_014425.5(INVS):c.2116A>G (p.Arg706Gly)
|
rs116222916
|
0.00384
|
NM_014425.5(INVS):c.1284T>C (p.His428=)
|
rs77465715
|
0.00312
|
NM_014425.5(INVS):c.2803C>T (p.His935Tyr)
|
rs139768159
|
0.00232
|
NM_014425.5(INVS):c.-17C>T
|
rs181463817
|
0.00194
|
NM_014425.5(INVS):c.3017-5T>G
|
rs201018893
|
0.00177
|
NM_014425.5(INVS):c.2193C>T (p.Gly731=)
|
rs148758887
|
0.00158
|
NM_014425.5(INVS):c.913G>A (p.Val305Ile)
|
rs116438342
|
0.00140
|
NM_014425.5(INVS):c.2310C>T (p.His770=)
|
rs116606949
|
0.00118
|
NM_014425.5(INVS):c.1945G>A (p.Val649Met)
|
rs115042730
|
0.00087
|
NM_014425.5(INVS):c.1925A>G (p.Lys642Arg)
|
rs116314059
|
0.00076
|
NM_014425.5(INVS):c.2311G>A (p.Asp771Asn)
|
rs115754570
|
0.00074
|
NM_014425.5(INVS):c.1704G>A (p.Gly568=)
|
rs114645869
|
0.00073
|
NM_014425.5(INVS):c.2775C>T (p.Arg925=)
|
rs146360442
|
0.00071
|
NM_014425.5(INVS):c.2517G>A (p.Lys839=)
|
rs147041710
|
0.00070
|
NM_014425.5(INVS):c.2454G>A (p.Ala818=)
|
rs115937161
|
0.00067
|
NM_014425.5(INVS):c.367C>T (p.Arg123Trp)
|
rs149315279
|
0.00067
|
NM_014425.5(INVS):c.2313T>C (p.Asp771=)
|
rs147112151
|
0.00059
|
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu)
|
rs147731667
|
0.00058
|
NM_014425.5(INVS):c.1971C>G (p.Asp657Glu)
|
rs114942117
|
0.00048
|
NM_014425.5(INVS):c.2785A>G (p.Ser929Gly)
|
rs116188920
|
0.00048
|
NM_014425.5(INVS):c.2056A>G (p.Arg686Gly)
|
rs150001738
|
0.00034
|
NM_014425.5(INVS):c.118C>G (p.Leu40Val)
|
rs148219510
|
0.00032
|
NM_014425.5(INVS):c.2278T>G (p.Ser760Ala)
|
rs146901872
|
0.00032
|
NM_014425.5(INVS):c.1122G>A (p.Lys374=)
|
rs140255233
|
0.00026
|
NM_014425.5(INVS):c.2664T>C (p.Ser888=)
|
rs1052867
|
0.00026
|
NM_014425.5(INVS):c.114T>C (p.Ser38=)
|
rs114056499
|
0.00022
|
NM_014425.5(INVS):c.2200C>T (p.Arg734Trp)
|
rs370949695
|
0.00022
|
NM_014425.5(INVS):c.67G>A (p.Val23Ile)
|
rs145303373
|
0.00021
|
NM_014425.5(INVS):c.1785-20T>G
|
rs200028895
|
0.00018
|
NM_014425.5(INVS):c.1459A>C (p.Lys487Gln)
|
rs398124271
|
0.00016
|
NM_014425.5(INVS):c.1220A>C (p.Gln407Pro)
|
rs374662619
|
0.00014
|
NM_014425.5(INVS):c.1264G>C (p.Asp422His)
|
rs145243134
|
0.00014
|
NM_014425.5(INVS):c.*469A>T
|
rs886063279
|
0.00013
|
NM_014425.5(INVS):c.1787A>G (p.Lys596Arg)
|
rs751587570
|
0.00012
|
NM_014425.5(INVS):c.198T>C (p.Ala66=)
|
rs150557072
|
0.00012
|
NM_014425.5(INVS):c.*5C>T
|
rs371839458
|
0.00011
|
NM_014425.5(INVS):c.*73T>A
|
rs886063273
|
0.00011
|
NM_014425.5(INVS):c.2685C>T (p.Pro895=)
|
rs371932940
|
0.00011
|
NM_014425.5(INVS):c.706G>A (p.Val236Met)
|
rs150883233
|
0.00011
|
NM_014425.5(INVS):c.2776G>A (p.Ala926Thr)
|
rs374891838
|
0.00010
|
NM_014425.5(INVS):c.1661T>C (p.Ile554Thr)
|
rs748753412
|
0.00009
|
NM_014425.5(INVS):c.1675G>A (p.Ala559Thr)
|
rs199553226
|
0.00009
|
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)
|
rs200844390
|
0.00009
|
NM_014425.5(INVS):c.284G>A (p.Arg95His)
|
rs372088206
|
0.00009
|
NM_014425.5(INVS):c.307C>T (p.Arg103Cys)
|
rs750863293
|
0.00009
|
NM_014425.5(INVS):c.3099C>T (p.Asn1033=)
|
rs368303175
|
0.00009
|
NM_014425.5(INVS):c.2335C>T (p.Arg779Trp)
|
rs370643191
|
0.00008
|
NM_014425.5(INVS):c.2740C>T (p.Arg914Cys)
|
rs201904771
|
0.00008
|
NM_014425.5(INVS):c.1374C>A (p.Thr458=)
|
rs114912725
|
0.00007
|
NM_014425.5(INVS):c.1038G>A (p.Ser346=)
|
rs372355067
|
0.00006
|
NM_014425.5(INVS):c.1453del (p.Gln485fs)
|
rs753348470
|
0.00006
|
NM_014425.5(INVS):c.1943A>G (p.Asn648Ser)
|
rs116686341
|
0.00006
|
NM_014425.5(INVS):c.2444G>A (p.Arg815Gln)
|
rs200477298
|
0.00006
|
NM_014425.5(INVS):c.2643T>C (p.Pro881=)
|
rs201128300
|
0.00006
|
NM_014425.5(INVS):c.2673T>G (p.Ile891Met)
|
rs775260392
|
0.00006
|
NM_014425.5(INVS):c.2720G>A (p.Arg907Gln)
|
rs781064013
|
0.00006
|
NM_014425.5(INVS):c.2764G>C (p.Val922Leu)
|
rs375031657
|
0.00006
|
NM_014425.5(INVS):c.2919C>A (p.Phe973Leu)
|
rs374199927
|
0.00006
|
NM_014425.5(INVS):c.103G>A (p.Val35Ile)
|
rs368173855
|
0.00005
|
NM_014425.5(INVS):c.1373C>G (p.Thr458Ser)
|
rs745648344
|
0.00005
|
NM_014425.5(INVS):c.2089A>G (p.Lys697Glu)
|
rs374381370
|
0.00005
|
NM_014425.5(INVS):c.274-14T>G
|
rs201366153
|
0.00005
|
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter)
|
rs376879175
|
0.00005
|
NM_014425.5(INVS):c.2907G>A (p.Leu969=)
|
rs148601487
|
0.00005
|
NM_014425.5(INVS):c.524T>C (p.Ile175Thr)
|
rs766187142
|
0.00005
|
NM_014425.5(INVS):c.800A>G (p.His267Arg)
|
rs747248321
|
0.00005
|
NM_014425.5(INVS):c.912G>A (p.Thr304=)
|
rs141109039
|
0.00005
|
NM_014425.5(INVS):c.1107T>C (p.His369=)
|
rs760637052
|
0.00004
|
NM_014425.5(INVS):c.1111A>G (p.Ser371Gly)
|
rs200546215
|
0.00004
|
NM_014425.5(INVS):c.1117G>A (p.Val373Met)
|
rs759162487
|
0.00004
|
NM_014425.5(INVS):c.1336A>C (p.Lys446Gln)
|
rs370549699
|
0.00004
|
NM_014425.5(INVS):c.1465-15T>G
|
rs772436028
|
0.00004
|
NM_014425.5(INVS):c.1490G>A (p.Cys497Tyr)
|
rs1296545586
|
0.00004
|
NM_014425.5(INVS):c.1653C>T (p.Ile551=)
|
rs781357714
|
0.00004
|
NM_014425.5(INVS):c.1913G>A (p.Arg638Gln)
|
rs761806481
|
0.00004
|
NM_014425.5(INVS):c.2307G>A (p.Pro769=)
|
rs140706545
|
0.00004
|
NM_014425.5(INVS):c.2443C>T (p.Arg815Trp)
|
rs564509196
|
0.00004
|
NM_014425.5(INVS):c.2453C>T (p.Ala818Val)
|
rs115324411
|
0.00004
|
NM_014425.5(INVS):c.286T>C (p.Phe96Leu)
|
rs375188577
|
0.00004
|
NM_014425.5(INVS):c.3028G>A (p.Glu1010Lys)
|
rs375774619
|
0.00004
|
NM_014425.5(INVS):c.972A>G (p.Thr324=)
|
rs779527994
|
0.00004
|
NM_014425.5(INVS):c.*297A>G
|
rs190277417
|
0.00003
|
NM_014425.5(INVS):c.1017A>C (p.Arg339Ser)
|
rs201043963
|
0.00003
|
NM_014425.5(INVS):c.1059T>G (p.Ala353=)
|
rs764198130
|
0.00003
|
NM_014425.5(INVS):c.1065A>C (p.Lys355Asn)
|
rs146667666
|
0.00003
|
NM_014425.5(INVS):c.1116C>T (p.Thr372=)
|
rs757492226
|
0.00003
|
NM_014425.5(INVS):c.1175C>T (p.Thr392Ile)
|
rs747812451
|
0.00003
|
NM_014425.5(INVS):c.1639G>C (p.Gly547Arg)
|
rs368682890
|
0.00003
|
NM_014425.5(INVS):c.1654G>A (p.Ala552Thr)
|
rs748693441
|
0.00003
|
NM_014425.5(INVS):c.1669A>G (p.Ile557Val)
|
rs762519529
|
0.00003
|
NM_014425.5(INVS):c.1727G>A (p.Arg576Gln)
|
rs758506682
|
0.00003
|
NM_014425.5(INVS):c.1815G>C (p.Glu605Asp)
|
rs540466137
|
0.00003
|
NM_014425.5(INVS):c.1944C>T (p.Asn648=)
|
rs369319343
|
0.00003
|
NM_014425.5(INVS):c.197C>T (p.Ala66Val)
|
rs772644712
|
0.00003
|
NM_014425.5(INVS):c.2201G>A (p.Arg734Gln)
|
rs558958395
|
0.00003
|
NM_014425.5(INVS):c.2272G>A (p.Glu758Lys)
|
rs767989658
|
0.00003
|
NM_014425.5(INVS):c.2279C>T (p.Ser760Phe)
|
rs1324519096
|
0.00003
|
NM_014425.5(INVS):c.2337G>C (p.Arg779=)
|
rs779298889
|
0.00003
|
NM_014425.5(INVS):c.2429G>A (p.Arg810His)
|
rs772496111
|
0.00003
|
NM_014425.5(INVS):c.2604C>T (p.Ser868=)
|
rs751765105
|
0.00003
|
NM_014425.5(INVS):c.2819G>A (p.Arg940Gln)
|
rs369751285
|
0.00003
|
NM_014425.5(INVS):c.3153T>C (p.Tyr1051=)
|
rs764214687
|
0.00003
|
NM_014425.5(INVS):c.444C>T (p.Asn148=)
|
rs755575787
|
0.00003
|
NM_014425.5(INVS):c.595C>A (p.His199Asn)
|
rs751348020
|
0.00003
|
NM_014425.5(INVS):c.796+4C>T
|
rs371310920
|
0.00003
|
NM_014425.5(INVS):c.815A>C (p.His272Pro)
|
rs151080341
|
0.00003
|
NM_014425.5(INVS):c.817C>T (p.Leu273Phe)
|
rs776929488
|
0.00003
|
NM_014425.5(INVS):c.1079-13G>C
|
rs373264811
|
0.00002
|
NM_014425.5(INVS):c.1465-8G>A
|
rs370130702
|
0.00002
|
NM_014425.5(INVS):c.1607G>A (p.Arg536His)
|
rs752692382
|
0.00002
|
NM_014425.5(INVS):c.166G>A (p.Val56Met)
|
rs778036236
|
0.00002
|
NM_014425.5(INVS):c.1995T>C (p.Ser665=)
|
rs762888351
|
0.00002
|
NM_014425.5(INVS):c.2001C>T (p.Gly667=)
|
rs536554704
|
0.00002
|
NM_014425.5(INVS):c.2009T>C (p.Leu670Pro)
|
rs762112247
|
0.00002
|
NM_014425.5(INVS):c.2068+2T>C
|
rs777556837
|
0.00002
|
NM_014425.5(INVS):c.2204G>A (p.Cys735Tyr)
|
rs375485537
|
0.00002
|
NM_014425.5(INVS):c.2247G>A (p.Arg749=)
|
rs769950635
|
0.00002
|
NM_014425.5(INVS):c.2263G>A (p.Glu755Lys)
|
rs774692372
|
0.00002
|
NM_014425.5(INVS):c.2285G>A (p.Arg762Gln)
|
rs753540322
|
0.00002
|
NM_014425.5(INVS):c.2696G>A (p.Arg899Gln)
|
rs142177132
|
0.00002
|
NM_014425.5(INVS):c.2760A>G (p.Ala920=)
|
rs745573372
|
0.00002
|
NM_014425.5(INVS):c.2774G>A (p.Arg925His)
|
rs370713515
|
0.00002
|
NM_014425.5(INVS):c.2959T>C (p.Ser987Pro)
|
rs779291688
|
0.00002
|
NM_014425.5(INVS):c.3079C>T (p.Arg1027Cys)
|
rs771248759
|
0.00002
|
NM_014425.5(INVS):c.3080G>A (p.Arg1027His)
|
rs774849762
|
0.00002
|
NM_014425.5(INVS):c.3103C>G (p.Gln1035Glu)
|
rs776279048
|
0.00002
|
NM_014425.5(INVS):c.3106T>C (p.Cys1036Arg)
|
rs1444531400
|
0.00002
|
NM_014425.5(INVS):c.337G>A (p.Glu113Lys)
|
rs747572974
|
0.00002
|
NM_014425.5(INVS):c.515A>G (p.Asp172Gly)
|
rs377683634
|
0.00002
|
NM_014425.5(INVS):c.*45G>A
|
rs1481874573
|
0.00001
|
NM_014425.5(INVS):c.-176C>T
|
rs1241040246
|
0.00001
|
NM_014425.5(INVS):c.1016G>A (p.Arg339Lys)
|
rs768193321
|
0.00001
|
NM_014425.5(INVS):c.1024C>T (p.Leu342=)
|
rs761575712
|
0.00001
|
NM_014425.5(INVS):c.1048A>G (p.Ile350Val)
|
rs767638762
|
0.00001
|
NM_014425.5(INVS):c.1056G>C (p.Met352Ile)
|
rs752714293
|
0.00001
|
NM_014425.5(INVS):c.1078+1G>A
|
rs375416014
|
0.00001
|
NM_014425.5(INVS):c.1079-7C>T
|
rs1185982706
|
0.00001
|
NM_014425.5(INVS):c.10T>G (p.Ser4Ala)
|
rs1827109569
|
0.00001
|
NM_014425.5(INVS):c.1104C>T (p.Gly368=)
|
rs775686671
|
0.00001
|
NM_014425.5(INVS):c.1177C>G (p.Pro393Ala)
|
rs1441776664
|
0.00001
|
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter)
|
rs773049314
|
0.00001
|
NM_014425.5(INVS):c.1235-18A>G
|
rs1438355327
|
0.00001
|
NM_014425.5(INVS):c.1256T>C (p.Val419Ala)
|
rs1212072950
|
0.00001
|
NM_014425.5(INVS):c.1317C>T (p.Cys439=)
|
rs886063266
|
0.00001
|
NM_014425.5(INVS):c.1361A>C (p.Tyr454Ser)
|
rs756863097
|
0.00001
|
NM_014425.5(INVS):c.1379T>G (p.Leu460Trp)
|
rs878854980
|
0.00001
|
NM_014425.5(INVS):c.1387G>A (p.Ala463Thr)
|
rs770018625
|
0.00001
|
NM_014425.5(INVS):c.1436A>G (p.Asn479Ser)
|
rs773285164
|
0.00001
|
NM_014425.5(INVS):c.1482T>C (p.His494=)
|
rs577839314
|
0.00001
|
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter)
|
rs149055711
|
0.00001
|
NM_014425.5(INVS):c.1508A>G (p.Asp503Gly)
|
rs1832737838
|
0.00001
|
NM_014425.5(INVS):c.154C>T (p.Leu52Phe)
|
rs758283111
|
0.00001
|
NM_014425.5(INVS):c.1572A>G (p.Arg524=)
|
rs187927206
|
0.00001
|
NM_014425.5(INVS):c.1595T>C (p.Leu532Ser)
|
rs1446860684
|
0.00001
|
NM_014425.5(INVS):c.1606C>T (p.Arg536Cys)
|
rs1228736160
|
0.00001
|
NM_014425.5(INVS):c.1633G>C (p.Glu545Gln)
|
rs1832999935
|
0.00001
|
NM_014425.5(INVS):c.1671C>T (p.Ile557=)
|
rs770524429
|
0.00001
|
NM_014425.5(INVS):c.1686C>G (p.Ile562Met)
|
rs767346175
|
0.00001
|
NM_014425.5(INVS):c.1784+7A>T
|
rs1036479094
|
0.00001
|
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter)
|
rs755288504
|
0.00001
|
NM_014425.5(INVS):c.1790G>T (p.Arg597Leu)
|
rs1291135236
|
0.00001
|
NM_014425.5(INVS):c.1797A>G (p.Glu599=)
|
rs1192378189
|
0.00001
|
NM_014425.5(INVS):c.1807C>T (p.Arg603Ter)
|
rs121964994
|
0.00001
|
NM_014425.5(INVS):c.1976G>A (p.Arg659Lys)
|
rs201738845
|
0.00001
|
NM_014425.5(INVS):c.1978G>A (p.Gly660Arg)
|
rs1833374932
|
0.00001
|
NM_014425.5(INVS):c.1980A>G (p.Gly660=)
|
rs139314036
|
0.00001
|
NM_014425.5(INVS):c.1992G>A (p.Gly664=)
|
rs769810980
|
0.00001
|
NM_014425.5(INVS):c.2021A>G (p.Gln674Arg)
|
rs750909979
|
0.00001
|
NM_014425.5(INVS):c.2031C>T (p.Ser677=)
|
rs756240366
|
0.00001
|
NM_014425.5(INVS):c.2035G>T (p.Asp679Tyr)
|
rs751056550
|
0.00001
|
NM_014425.5(INVS):c.2062C>T (p.Pro688Ser)
|
rs769487492
|
0.00001
|
NM_014425.5(INVS):c.2108T>C (p.Val703Ala)
|
rs1285423022
|
0.00001
|
NM_014425.5(INVS):c.2156T>C (p.Val719Ala)
|
rs1379171622
|
0.00001
|
NM_014425.5(INVS):c.2189C>T (p.Ala730Val)
|
rs763766362
|
0.00001
|
NM_014425.5(INVS):c.2210A>G (p.Lys737Arg)
|
rs1008214234
|
0.00001
|
NM_014425.5(INVS):c.2224G>A (p.Val742Met)
|
rs115598824
|
0.00001
|
NM_014425.5(INVS):c.2260G>A (p.Asp754Asn)
|
rs115401137
|
0.00001
|
NM_014425.5(INVS):c.2284C>T (p.Arg762Trp)
|
rs763460118
|
0.00001
|
NM_014425.5(INVS):c.2336G>A (p.Arg779Gln)
|
rs771128055
|
0.00001
|
NM_014425.5(INVS):c.2380C>T (p.Arg794Cys)
|
rs556807161
|
0.00001
|
NM_014425.5(INVS):c.2381G>A (p.Arg794His)
|
rs766040970
|
0.00001
|
NM_014425.5(INVS):c.2394C>G (p.Leu798=)
|
rs751531097
|
0.00001
|
NM_014425.5(INVS):c.2417C>T (p.Ala806Val)
|
rs201824415
|
0.00001
|
NM_014425.5(INVS):c.2428C>T (p.Arg810Cys)
|
rs984016152
|
0.00001
|
NM_014425.5(INVS):c.2468A>G (p.Gln823Arg)
|
rs752586599
|
0.00001
|
NM_014425.5(INVS):c.2485C>T (p.Arg829Cys)
|
rs780527510
|
0.00001
|
NM_014425.5(INVS):c.2519T>C (p.Leu840Pro)
|
rs772783995
|
0.00001
|
NM_014425.5(INVS):c.2539C>T (p.His847Tyr)
|
rs1041470924
|
0.00001
|
NM_014425.5(INVS):c.2570C>T (p.Ser857Leu)
|
rs775418651
|
0.00001
|
NM_014425.5(INVS):c.2603C>T (p.Ser868Phe)
|
rs1300344847
|
0.00001
|
NM_014425.5(INVS):c.2714G>A (p.Arg905Lys)
|
rs753100317
|
0.00001
|
NM_014425.5(INVS):c.2783G>A (p.Arg928Gln)
|
rs376463532
|
0.00001
|
NM_014425.5(INVS):c.2786+18T>C
|
rs1362322226
|
0.00001
|
NM_014425.5(INVS):c.2786+1G>A
|
rs935629850
|
0.00001
|
NM_014425.5(INVS):c.27T>C (p.Phe9=)
|
rs777589570
|
0.00001
|
NM_014425.5(INVS):c.283C>T (p.Arg95Cys)
|
rs1189239222
|
0.00001
|
NM_014425.5(INVS):c.2847T>C (p.Asp949=)
|
rs144478818
|
0.00001
|
NM_014425.5(INVS):c.2850G>T (p.Val950=)
|
rs765818859
|
0.00001
|
NM_014425.5(INVS):c.2851G>A (p.Asp951Asn)
|
rs1833809920
|
0.00001
|
NM_014425.5(INVS):c.2888A>T (p.Gln963Leu)
|
rs996350769
|
0.00001
|
NM_014425.5(INVS):c.3016+13C>A
|
rs767170405
|
0.00001
|
NM_014425.5(INVS):c.3016+5C>T
|
rs142606077
|
0.00001
|
NM_014425.5(INVS):c.3017-18del
|
rs761040482
|
0.00001
|
NM_014425.5(INVS):c.301C>T (p.Leu101Phe)
|
rs757623556
|
0.00001
|
NM_014425.5(INVS):c.3027C>T (p.His1009=)
|
rs201136636
|
0.00001
|
NM_014425.5(INVS):c.3068C>T (p.Ser1023Phe)
|
rs769993446
|
0.00001
|
NM_014425.5(INVS):c.3071C>T (p.Ser1024Phe)
|
rs778164167
|
0.00001
|
NM_014425.5(INVS):c.3149C>T (p.Ser1050Phe)
|
rs969660773
|
0.00001
|
NM_014425.5(INVS):c.3184A>G (p.Lys1062Glu)
|
rs750609488
|
0.00001
|
NM_014425.5(INVS):c.319T>G (p.Trp107Gly)
|
rs1831309953
|
0.00001
|
NM_014425.5(INVS):c.33T>C (p.Gly11=)
|
rs1554713054
|
0.00001
|
NM_014425.5(INVS):c.349C>G (p.Pro117Ala)
|
rs1021818693
|
0.00001
|
NM_014425.5(INVS):c.368G>A (p.Arg123Gln)
|
rs757534991
|
0.00001
|
NM_014425.5(INVS):c.433C>A (p.Gln145Lys)
|
rs745703727
|
0.00001
|
NM_014425.5(INVS):c.464G>A (p.Trp155Ter)
|
rs1007394906
|
0.00001
|
NM_014425.5(INVS):c.48A>G (p.Ser16=)
|
rs1827110732
|
0.00001
|
NM_014425.5(INVS):c.500T>C (p.Leu167Pro)
|
rs374420212
|
0.00001
|
NM_014425.5(INVS):c.501G>A (p.Leu167=)
|
rs767884283
|
0.00001
|
NM_014425.5(INVS):c.520A>C (p.Asn174His)
|
rs370730139
|
0.00001
|
NM_014425.5(INVS):c.538G>A (p.Val180Ile)
|
rs1206727122
|
0.00001
|
NM_014425.5(INVS):c.572A>G (p.Asn191Ser)
|
rs1831448800
|
0.00001
|
NM_014425.5(INVS):c.590C>G (p.Ala197Gly)
|
rs774469922
|
0.00001
|
NM_014425.5(INVS):c.625C>T (p.Pro209Ser)
|
rs144729900
|
0.00001
|
NM_014425.5(INVS):c.646T>G (p.Trp216Gly)
|
rs1446856893
|
0.00001
|
NM_014425.5(INVS):c.657C>T (p.Tyr219=)
|
rs1424949239
|
0.00001
|
NM_014425.5(INVS):c.658G>A (p.Glu220Lys)
|
rs759684253
|
0.00001
|
NM_014425.5(INVS):c.66C>T (p.Ala22=)
|
rs1419957613
|
0.00001
|
NM_014425.5(INVS):c.727T>C (p.Tyr243His)
|
rs1206942379
|
0.00001
|
NM_014425.5(INVS):c.747G>A (p.Thr249=)
|
rs570134046
|
0.00001
|
NM_014425.5(INVS):c.796+5G>A
|
rs1272619479
|
0.00001
|
NM_014425.5(INVS):c.819C>G (p.Leu273=)
|
rs1448130159
|
0.00001
|
NM_014425.5(INVS):c.833A>G (p.Asn278Ser)
|
rs1831914143
|
0.00001
|
NM_014425.5(INVS):c.867A>C (p.Gly289=)
|
rs1227795087
|
0.00001
|
NM_014425.5(INVS):c.889G>A (p.Ala297Thr)
|
rs116475199
|
0.00001
|
NM_014425.5(INVS):c.890C>T (p.Ala297Val)
|
rs759327541
|
0.00001
|
NM_014425.5(INVS):c.900C>T (p.Asn300=)
|
rs752481190
|
0.00001
|
NM_014425.5(INVS):c.907-4A>C
|
rs765148031
|
0.00001
|
NM_014425.5(INVS):c.907-7C>G
|
rs1299007196
|
0.00001
|
NM_014425.5(INVS):c.938C>T (p.Ser313Leu)
|
rs756222867
|
0.00001
|
NM_014425.5(INVS):c.962A>G (p.Glu321Gly)
|
rs749655348
|
0.00001
|
NM_014425.5(INVS):c.978T>G (p.Phe326Leu)
|
rs1457973181
|
0.00001
|
NM_014425.5(INVS):c.986C>T (p.Ala329Val)
|
rs1202806202
|
0.00001
|
NM_014425.5(INVS):c.997G>T (p.Gly333Cys)
|
rs746333759
|
0.00001
|
GRCh37/hg19 9q31.1(chr9:102909159-102988115)x1
|
|
|
GRCh37/hg19 9q31.1(chr9:102911709-103044374)x1
|
|
|
GRCh37/hg19 9q31.1(chr9:102965586-103023946)x1
|
|
|
GRCh37/hg19 9q31.1(chr9:103059178-103060312)
|
|
|
NC_000009.11:g.(?_102866804)_(103035378_?)dup
|
|
|
NC_000009.11:g.(?_102988324)_(103062956_?)dup
|
|
|
NC_000009.11:g.(?_103004832)_(103009089_?)del
|
|
|
NC_000009.11:g.(?_103008898)_(103009069_?)del
|
|
|
NC_000009.11:g.(?_103014545)_(103015438_?)del
|
|
|
NC_000009.11:g.(?_103027084)_(103035378_?)del
|
|
|
NC_000009.12:g.(?_100104498)_(100104627_?)del
|
|
|
NC_000009.12:g.(?_100126363)_(100126569_?)del
|
|
|
NC_000009.12:g.(?_100226042)_(100226255_?)del
|
|
|
NM_014425.5(INVS):c.*158T>C
|
rs1833944803
|
|
NM_014425.5(INVS):c.*323A>T
|
rs1833949389
|
|
NM_014425.5(INVS):c.*352A>T
|
rs1481868199
|
|
NM_014425.5(INVS):c.*415A>G
|
rs1833951689
|
|
NM_014425.5(INVS):c.*466CA[18]
|
rs10527613
|
|
NM_014425.5(INVS):c.*466CA[19]
|
rs10527613
|
|
NM_014425.5(INVS):c.*466CA[21]
|
rs10527613
|
|
NM_014425.5(INVS):c.*466CA[23]
|
rs10527613
|
|
NM_014425.5(INVS):c.*466_*467insTCAC
|
rs200314659
|
|
NM_014425.5(INVS):c.*466_*467insTCACAC
|
rs200314659
|
|
NM_014425.5(INVS):c.*98A>G
|
rs886063274
|
|
NM_014425.5(INVS):c.-178G>A
|
rs886063263
|
|
NM_014425.5(INVS):c.1002T>C (p.Ser334=)
|
|
|
NM_014425.5(INVS):c.1005T>C (p.Asp335=)
|
|
|
NM_014425.5(INVS):c.1006G>A (p.Asp336Asn)
|
rs760384200
|
|
NM_014425.5(INVS):c.1011C>T (p.Val337=)
|
|
|
NM_014425.5(INVS):c.1022T>G (p.Met341Arg)
|
rs1397165748
|
|
NM_014425.5(INVS):c.1037C>A (p.Ser346Ter)
|
|
|
NM_014425.5(INVS):c.1041C>T (p.Asp347=)
|
|
|
NM_014425.5(INVS):c.104T>C (p.Val35Ala)
|
|
|
NM_014425.5(INVS):c.1051A>C (p.Asn351His)
|
rs1564174503
|
|
NM_014425.5(INVS):c.106+14_106+15insAC
|
|
|
NM_014425.5(INVS):c.106+15T>G
|
|
|
NM_014425.5(INVS):c.106+17A>T
|
|
|
NM_014425.5(INVS):c.106+18G>A
|
|
|
NM_014425.5(INVS):c.106+19dup
|
rs1564114408
|
|
NM_014425.5(INVS):c.106+20A>G
|
|
|
NM_014425.5(INVS):c.106+3A>C
|
rs1827113455
|
|
NM_014425.5(INVS):c.106+6C>T
|
rs1196750401
|
|
NM_014425.5(INVS):c.106+7A>G
|
|
|
NM_014425.5(INVS):c.1068T>C (p.Tyr356=)
|
|
|
NM_014425.5(INVS):c.107-17G>A
|
|
|
NM_014425.5(INVS):c.107-1G>A
|
|
|
NM_014425.5(INVS):c.107-7C>T
|
rs1564123526
|
|
NM_014425.5(INVS):c.107-9T>C
|
|
|
NM_014425.5(INVS):c.1078+10G>T
|
|
|
NM_014425.5(INVS):c.1078+11G>A
|
|
|
NM_014425.5(INVS):c.1078+15A>G
|
|
|
NM_014425.5(INVS):c.1078+18C>T
|
|
|
NM_014425.5(INVS):c.1078+19A>G
|
|
|
NM_014425.5(INVS):c.1078+242C>T
|
rs34314753
|
|
NM_014425.5(INVS):c.1078+6_1078+9dup
|
rs1431121294
|
|
NM_014425.5(INVS):c.1078+9T>C
|
|
|
NM_014425.5(INVS):c.1079-10T>A
|
|
|
NM_014425.5(INVS):c.1079-13G>T
|
|
|
NM_014425.5(INVS):c.1079-6T>C
|
|
|
NM_014425.5(INVS):c.1099T>C (p.Ser367Pro)
|
|
|
NM_014425.5(INVS):c.1113C>T (p.Ser371=)
|
rs2118558999
|
|
NM_014425.5(INVS):c.1128A>T (p.Leu376Phe)
|
rs2118559115
|
|
NM_014425.5(INVS):c.1131G>A (p.Leu377=)
|
rs780406236
|
|
NM_014425.5(INVS):c.1135A>G (p.Asn379Asp)
|
rs1832262518
|
|
NM_014425.5(INVS):c.1140T>C (p.Asn380=)
|
|
|
NM_014425.5(INVS):c.1162_1163del (p.Val388fs)
|
|
|
NM_014425.5(INVS):c.1171C>T (p.His391Tyr)
|
rs1181379253
|
|
NM_014425.5(INVS):c.1174A>G (p.Thr392Ala)
|
|
|
NM_014425.5(INVS):c.1189G>A (p.Ala397Thr)
|
|
|
NM_014425.5(INVS):c.118C>T (p.Leu40Phe)
|
rs148219510
|
|
NM_014425.5(INVS):c.1200G>A (p.Met400Ile)
|
|
|
NM_014425.5(INVS):c.1208A>G (p.Lys403Arg)
|
rs1564176658
|
|
NM_014425.5(INVS):c.1211del (p.Asp404fs)
|
|
|
NM_014425.5(INVS):c.1219C>T (p.Gln407Ter)
|
|
|
NM_014425.5(INVS):c.1223C>T (p.Thr408Ile)
|
|
|
NM_014425.5(INVS):c.1234+15G>A
|
|
|
NM_014425.5(INVS):c.1234+15G>C
|
|
|
NM_014425.5(INVS):c.1234+17A>T
|
|
|
NM_014425.5(INVS):c.1234+18C>T
|
|
|
NM_014425.5(INVS):c.1234+19T>C
|
|
|
NM_014425.5(INVS):c.1234+2T>G
|
|
|
NM_014425.5(INVS):c.1234+7T>C
|
|
|
NM_014425.5(INVS):c.1235-10G>A
|
|
|
NM_014425.5(INVS):c.1235-12G>A
|
|
|
NM_014425.5(INVS):c.1235-19_1235-17del
|
|
|
NM_014425.5(INVS):c.1235-4C>G
|
|
|
NM_014425.5(INVS):c.1252C>T (p.Leu418=)
|
|
|
NM_014425.5(INVS):c.1254A>G (p.Leu418=)
|
|
|
NM_014425.5(INVS):c.1255G>C (p.Val419Leu)
|
rs2118562526
|
|
NM_014425.5(INVS):c.1262A>T (p.Gln421Leu)
|
|
|
NM_014425.5(INVS):c.1266T>C (p.Asp422=)
|
|
|
NM_014425.5(INVS):c.1272T>C (p.His424=)
|
rs2118562757
|
|
NM_014425.5(INVS):c.1275T>C (p.Ser425=)
|
|
|
NM_014425.5(INVS):c.127_129del (p.Lys43del)
|
rs757721719
|
|
NM_014425.5(INVS):c.1297G>A (p.Gly433Arg)
|
rs2118562856
|
|
NM_014425.5(INVS):c.1308T>G (p.Ala436=)
|
|
|
NM_014425.5(INVS):c.1315T>G (p.Cys439Gly)
|
|
|
NM_014425.5(INVS):c.1317C>A (p.Cys439Ter)
|
|
|
NM_014425.5(INVS):c.131A>C (p.Glu44Ala)
|
rs1564123563
|
|
NM_014425.5(INVS):c.1321A>C (p.Ile441Leu)
|
rs1832286801
|
|
NM_014425.5(INVS):c.132A>G (p.Glu44=)
|
|
|
NM_014425.5(INVS):c.1342A>G (p.Asn448Asp)
|
rs2118563086
|
|
NM_014425.5(INVS):c.1344T>C (p.Asn448=)
|
|
|
NM_014425.5(INVS):c.1345C>T (p.Pro449Ser)
|
rs753443905
|
|
NM_014425.5(INVS):c.1346C>T (p.Pro449Leu)
|
rs1832287614
|
|
NM_014425.5(INVS):c.1347A>T (p.Pro449=)
|
|
|
NM_014425.5(INVS):c.1353C>A (p.Val451=)
|
rs1488900404
|
|
NM_014425.5(INVS):c.1353C>T (p.Val451=)
|
|
|
NM_014425.5(INVS):c.1354C>T (p.Gln452Ter)
|
|
|
NM_014425.5(INVS):c.1355A>C (p.Gln452Pro)
|
rs2118563198
|
|
NM_014425.5(INVS):c.1356G>A (p.Gln452=)
|
|
|
NM_014425.5(INVS):c.1366G>C (p.Gly456Arg)
|
rs1019928360
|
|
NM_014425.5(INVS):c.1367del (p.Gly456fs)
|
|
|
NM_014425.5(INVS):c.1378T>C (p.Leu460=)
|
|
|
NM_014425.5(INVS):c.1392A>C (p.Ala464=)
|
rs1312406580
|
|
NM_014425.5(INVS):c.1392A>G (p.Ala464=)
|
|
|
NM_014425.5(INVS):c.1392A>T (p.Ala464=)
|
|
|
NM_014425.5(INVS):c.1396G>A (p.Gly466Arg)
|
rs1554726564
|
|
NM_014425.5(INVS):c.1399G>C (p.Gly467Arg)
|
rs2118563520
|
|
NM_014425.5(INVS):c.1401C>T (p.Gly467=)
|
rs1377027576
|
|
NM_014425.5(INVS):c.1407C>T (p.Ile469=)
|
|
|
NM_014425.5(INVS):c.1413C>T (p.Cys471=)
|
|
|
NM_014425.5(INVS):c.1417del (p.Ala473fs)
|
rs878855332
|
|
NM_014425.5(INVS):c.1420G>A (p.Val474Ile)
|
|
|
NM_014425.5(INVS):c.1422T>C (p.Val474=)
|
|
|
NM_014425.5(INVS):c.1423C>T (p.Leu475Phe)
|
|
|
NM_014425.5(INVS):c.1429G>A (p.Glu477Lys)
|
rs1832291428
|
|
NM_014425.5(INVS):c.1440A>G (p.Ala480=)
|
|
|
NM_014425.5(INVS):c.1461A>G (p.Lys487=)
|
|
|
NM_014425.5(INVS):c.1464+10C>G
|
|
|
NM_014425.5(INVS):c.1464+12G>A
|
|
|
NM_014425.5(INVS):c.1464+1G>A
|
rs375753623
|
|
NM_014425.5(INVS):c.1464+1G>T
|
rs375753623
|
|
NM_014425.5(INVS):c.1464+289_1464+290del
|
rs58891678
|
|
NM_014425.5(INVS):c.1464+290del
|
rs58891678
|
|
NM_014425.5(INVS):c.1465-14G>A
|
|
|
NM_014425.5(INVS):c.1465-188del
|
rs36049678
|
|
NM_014425.5(INVS):c.1465-19T>C
|
|
|
NM_014425.5(INVS):c.1465G>T (p.Gly489Ter)
|
|
|
NM_014425.5(INVS):c.1466G>A (p.Gly489Glu)
|
rs1015507237
|
|
NM_014425.5(INVS):c.1473A>G (p.Thr491=)
|
|
|
NM_014425.5(INVS):c.1478T>C (p.Leu493Ser)
|
rs121964995
|
|
NM_014425.5(INVS):c.1479G>C (p.Leu493Phe)
|
|
|
NM_014425.5(INVS):c.1492A>T (p.Asn498Tyr)
|
rs1832737510
|
|
NM_014425.5(INVS):c.1494C>T (p.Asn498=)
|
|
|
NM_014425.5(INVS):c.1496A>G (p.Asn499Ser)
|
rs1564182761
|
|
NM_014425.5(INVS):c.1497T>C (p.Asn499=)
|
|
|
NM_014425.5(INVS):c.149C>T (p.Thr50Ile)
|
|
|
NM_014425.5(INVS):c.1503C>G (p.Tyr501Ter)
|
|
|
NM_014425.5(INVS):c.1506T>C (p.Leu502=)
|
|
|
NM_014425.5(INVS):c.1508A>T (p.Asp503Val)
|
rs1832737838
|
|
NM_014425.5(INVS):c.1536T>C (p.Ala512=)
|
|
|
NM_014425.5(INVS):c.1537G>A (p.Ala513Thr)
|
|
|
NM_014425.5(INVS):c.153A>G (p.Pro51=)
|
rs1348116871
|
|
NM_014425.5(INVS):c.1544C>T (p.Pro515Leu)
|
rs1173094879
|
|
NM_014425.5(INVS):c.1547A>G (p.Asn516Ser)
|
|
|
NM_014425.5(INVS):c.1548T>G (p.Asn516Lys)
|
|
|
NM_014425.5(INVS):c.1560C>T (p.Asn520=)
|
rs201691547
|
|
NM_014425.5(INVS):c.1561A>C (p.Asn521His)
|
rs2118629746
|
|
NM_014425.5(INVS):c.1566_1567AG[4] (p.Tyr525fs)
|
|
|
NM_014425.5(INVS):c.1571+15A>G
|
|
|
NM_014425.5(INVS):c.1571+17T>A
|
|
|
NM_014425.5(INVS):c.1571+2dup
|
rs1554728033
|
|
NM_014425.5(INVS):c.1571+5G>A
|
rs1832740394
|
|
NM_014425.5(INVS):c.1572-12C>T
|
|
|
NM_014425.5(INVS):c.1572-16C>A
|
|
|
NM_014425.5(INVS):c.1576A>G (p.Thr526Ala)
|
rs1050540680
|
|
NM_014425.5(INVS):c.1578A>G (p.Thr526=)
|
|
|
NM_014425.5(INVS):c.1581C>T (p.Pro527=)
|
|
|
NM_014425.5(INVS):c.1584T>A (p.Leu528=)
|
rs1832998425
|
|
NM_014425.5(INVS):c.158T>C (p.Met53Thr)
|
rs748223529
|
|
NM_014425.5(INVS):c.1590T>C (p.Tyr530=)
|
|
|
NM_014425.5(INVS):c.1599T>C (p.Leu533=)
|
|
|
NM_014425.5(INVS):c.1604A>G (p.Glu535Gly)
|
rs1832999071
|
|
NM_014425.5(INVS):c.1608C>A (p.Arg536=)
|
|
|
NM_014425.5(INVS):c.162T>C (p.Tyr54=)
|
|
|
NM_014425.5(INVS):c.1630T>C (p.Leu544=)
|
rs1441867275
|
|
NM_014425.5(INVS):c.1632G>A (p.Leu544=)
|
|
|
NM_014425.5(INVS):c.1638C>T (p.His546=)
|
rs758665047
|
|
NM_014425.5(INVS):c.1639G>A (p.Gly547Ser)
|
rs368682890
|
|
NM_014425.5(INVS):c.1641T>C (p.Gly547=)
|
|
|
NM_014425.5(INVS):c.1659C>T (p.Ala553=)
|
|
|
NM_014425.5(INVS):c.165C>T (p.Cys55=)
|
|
|
NM_014425.5(INVS):c.1663C>T (p.Gln555Ter)
|
|
|
NM_014425.5(INVS):c.1667A>C (p.Asp556Ala)
|
|
|
NM_014425.5(INVS):c.1670T>G (p.Ile557Ser)
|
rs1833001296
|
|
NM_014425.5(INVS):c.1672G>A (p.Ala558Thr)
|
|
|
NM_014425.5(INVS):c.1674C>A (p.Ala558=)
|
rs143140689
|
|
NM_014425.5(INVS):c.1674C>T (p.Ala558=)
|
|
|
NM_014425.5(INVS):c.1683A>G (p.Lys561=)
|
|
|
NM_014425.5(INVS):c.1690del (p.Ala564fs)
|
|
|
NM_014425.5(INVS):c.1695C>G (p.Val565=)
|
|
|
NM_014425.5(INVS):c.1698C>T (p.Tyr566=)
|
rs2118669089
|
|
NM_014425.5(INVS):c.1710G>A (p.Lys570=)
|
rs750545598
|
|
NM_014425.5(INVS):c.1712T>C (p.Val571Ala)
|
rs1236753815
|
|
NM_014425.5(INVS):c.1717A>T (p.Lys573Ter)
|
|
|
NM_014425.5(INVS):c.1726C>T (p.Arg576Ter)
|
|
|
NM_014425.5(INVS):c.1731C>T (p.Asp577=)
|
|
|
NM_014425.5(INVS):c.1758A>G (p.Glu586=)
|
|
|
NM_014425.5(INVS):c.1760del (p.Gln587fs)
|
rs1833004339
|
|
NM_014425.5(INVS):c.1765A>C (p.Arg589=)
|
|
|
NM_014425.5(INVS):c.1773T>C (p.Asp591=)
|
|
|
NM_014425.5(INVS):c.1774G>C (p.Ala592Pro)
|
|
|
NM_014425.5(INVS):c.177_180dup (p.Leu61fs)
|
rs1564123602
|
|
NM_014425.5(INVS):c.1784+15C>T
|
|
|
NM_014425.5(INVS):c.1784+16G>A
|
|
|
NM_014425.5(INVS):c.1784+19G>A
|
|
|
NM_014425.5(INVS):c.1784+6T>C
|
|
|
NM_014425.5(INVS):c.1784+8T>C
|
rs781669059
|
|
NM_014425.5(INVS):c.1784+8T>G
|
rs781669059
|
|
NM_014425.5(INVS):c.1784A>C (p.Lys595Thr)
|
rs2118669515
|
|
NM_014425.5(INVS):c.1785-14G>A
|
rs2118724157
|
|
NM_014425.5(INVS):c.1785-18C>G
|
|
|
NM_014425.5(INVS):c.1785-20T>C
|
|
|
NM_014425.5(INVS):c.178A>C (p.Arg60=)
|
rs886038603
|
|
NM_014425.5(INVS):c.178A>G (p.Arg60Gly)
|
rs886038603
|
|
NM_014425.5(INVS):c.1790G>A (p.Arg597Gln)
|
rs1291135236
|
|
NM_014425.5(INVS):c.1793_1794del (p.Glu598fs)
|
|
|
NM_014425.5(INVS):c.1808G>A (p.Arg603Gln)
|
rs372596288
|
|
NM_014425.5(INVS):c.1811_1812del (p.Lys604fs)
|
rs1588145141
|
|
NM_014425.5(INVS):c.1812del (p.Glu605fs)
|
|
|
NM_014425.5(INVS):c.1813G>A (p.Glu605Lys)
|
|
|
NM_014425.5(INVS):c.1818A>C (p.Ala606=)
|
|
|
NM_014425.5(INVS):c.1821A>G (p.Glu607=)
|
|
|
NM_014425.5(INVS):c.1822del (p.Gln608fs)
|
|
|
NM_014425.5(INVS):c.1833A>G (p.Gly611=)
|
|
|
NM_014425.5(INVS):c.1836G>A (p.Arg612=)
|
rs1442102915
|
|
NM_014425.5(INVS):c.1837C>A (p.Arg613=)
|
|
|
NM_014425.5(INVS):c.1837C>T (p.Arg613Trp)
|
rs529208660
|
|
NM_014425.5(INVS):c.1838G>C (p.Arg613Pro)
|
rs774635980
|
|
NM_014425.5(INVS):c.1842C>G (p.Ser614Arg)
|
rs1564190202
|
|
NM_014425.5(INVS):c.1854C>T (p.Cys618=)
|
|
|
NM_014425.5(INVS):c.1865C>T (p.Ala622Val)
|
|
|
NM_014425.5(INVS):c.186T>C (p.Asp62=)
|
|
|
NM_014425.5(INVS):c.1882A>T (p.Ser628Cys)
|
|
|
NM_014425.5(INVS):c.1884C>T (p.Ser628=)
|
|
|
NM_014425.5(INVS):c.1896G>A (p.Val632=)
|
rs746617240
|
|
NM_014425.5(INVS):c.1899CAG[1] (p.Ser634del)
|
rs886063267
|
|
NM_014425.5(INVS):c.1903A>G (p.Arg635Gly)
|
|
|
NM_014425.5(INVS):c.1908G>A (p.Gln636=)
|
rs1205359268
|
|
NM_014425.5(INVS):c.1911C>T (p.Ser637=)
|
|
|
NM_014425.5(INVS):c.1912C>T (p.Arg638Trp)
|
|
|
NM_014425.5(INVS):c.1916C>A (p.Ala639Asp)
|
rs886063268
|
|
NM_014425.5(INVS):c.1920C>G (p.Pro640=)
|
|
|
NM_014425.5(INVS):c.1926G>A (p.Lys642=)
|
|
|
NM_014425.5(INVS):c.1941C>T (p.Gly647=)
|
|
|
NM_014425.5(INVS):c.194A>G (p.Asp65Gly)
|
|
|
NM_014425.5(INVS):c.1950C>G (p.Ala650=)
|
|
|
NM_014425.5(INVS):c.1950C>T (p.Ala650=)
|
rs1833373353
|
|
NM_014425.5(INVS):c.1984C>G (p.Pro662Ala)
|
|
|
NM_014425.5(INVS):c.1986A>G (p.Pro662=)
|
rs1176710652
|
|
NM_014425.5(INVS):c.1990G>A (p.Gly664Arg)
|
rs1397635177
|
|
NM_014425.5(INVS):c.1994C>G (p.Ser665Cys)
|
rs533008444
|
|
NM_014425.5(INVS):c.1994C>T (p.Ser665Phe)
|
rs533008444
|
|
NM_014425.5(INVS):c.1996C>T (p.Leu666=)
|
rs772048589
|
|
NM_014425.5(INVS):c.2001C>A (p.Gly667=)
|
|
|
NM_014425.5(INVS):c.2002G>A (p.Gly668Arg)
|
rs764384987
|
|
NM_014425.5(INVS):c.2002G>T (p.Gly668Ter)
|
rs764384987
|
|
NM_014425.5(INVS):c.2008C>T (p.Leu670Phe)
|
rs754291892
|
|
NM_014425.5(INVS):c.2010C>T (p.Leu670=)
|
|
|
NM_014425.5(INVS):c.2012del (p.Gln671fs)
|
|
|
NM_014425.5(INVS):c.2017G>A (p.Glu673Lys)
|
|
|
NM_014425.5(INVS):c.2027T>A (p.Val676Asp)
|
rs967224963
|
|
NM_014425.5(INVS):c.2029T>G (p.Ser677Ala)
|
|
|
NM_014425.5(INVS):c.2046A>C (p.Gly682=)
|
|
|
NM_014425.5(INVS):c.2049A>G (p.Thr683=)
|
|
|
NM_014425.5(INVS):c.2049A>T (p.Thr683=)
|
|
|
NM_014425.5(INVS):c.2056A>T (p.Arg686Ter)
|
rs150001738
|
|
NM_014425.5(INVS):c.2065A>C (p.Asn689His)
|
rs1355652364
|
|
NM_014425.5(INVS):c.2068+10T>C
|
|
|
NM_014425.5(INVS):c.2068+11T>C
|
|
|
NM_014425.5(INVS):c.2068+14C>T
|
|
|
NM_014425.5(INVS):c.2068+19T>A
|
|
|
NM_014425.5(INVS):c.2068+286T>C
|
rs2065997
|
|
NM_014425.5(INVS):c.2068+7G>A
|
|
|
NM_014425.5(INVS):c.2068+7G>T
|
|
|
NM_014425.5(INVS):c.2069-11G>A
|
|
|
NM_014425.5(INVS):c.2069-11G>C
|
|
|
NM_014425.5(INVS):c.2069-18T>C
|
|
|
NM_014425.5(INVS):c.2069-18_2069-16del
|
rs577372332
|
|
NM_014425.5(INVS):c.2069-1G>T
|
|
|
NM_014425.5(INVS):c.2069-8del
|
|
|
NM_014425.5(INVS):c.2073A>G (p.Thr691=)
|
|
|
NM_014425.5(INVS):c.2088T>C (p.Ser696=)
|
|
|
NM_014425.5(INVS):c.2097_2098del (p.Gln699fs)
|
rs1564193130
|
|
NM_014425.5(INVS):c.2098T>C (p.Ser700Pro)
|
rs1833645195
|
|
NM_014425.5(INVS):c.2102C>G (p.Ala701Gly)
|
|
|
NM_014425.5(INVS):c.2107G>A (p.Val703Ile)
|
rs1564193132
|
|
NM_014425.5(INVS):c.2116del (p.Arg706fs)
|
|
|
NM_014425.5(INVS):c.2119C>T (p.Pro707Ser)
|
|
|
NM_014425.5(INVS):c.2123A>G (p.Asn708Ser)
|
rs770047072
|
|
NM_014425.5(INVS):c.2143A>G (p.Arg715Gly)
|
rs766691188
|
|
NM_014425.5(INVS):c.2149C>A (p.Pro717Thr)
|
|
|
NM_014425.5(INVS):c.2152G>C (p.Gly718Arg)
|
rs1554730698
|
|
NM_014425.5(INVS):c.2160C>G (p.Pro720=)
|
|
|
NM_014425.5(INVS):c.2173T>C (p.Ser725Pro)
|
|
|
NM_014425.5(INVS):c.2185A>C (p.Thr729Pro)
|
|
|
NM_014425.5(INVS):c.2185A>G (p.Thr729Ala)
|
|
|
NM_014425.5(INVS):c.2186C>G (p.Thr729Arg)
|
|
|
NM_014425.5(INVS):c.2193C>A (p.Gly731=)
|
rs148758887
|
|
NM_014425.5(INVS):c.2194G>A (p.Asp732Asn)
|
rs1351418236
|
|
NM_014425.5(INVS):c.2208A>G (p.Ala736=)
|
rs2118761192
|
|
NM_014425.5(INVS):c.2212G>C (p.Gly738Arg)
|
|
|
NM_014425.5(INVS):c.2219G>T (p.Gly740Val)
|
|
|
NM_014425.5(INVS):c.2223C>T (p.Phe741=)
|
|
|
NM_014425.5(INVS):c.2225dup (p.Lys743fs)
|
|
|
NM_014425.5(INVS):c.2230C>T (p.Gln744Ter)
|
|
|
NM_014425.5(INVS):c.2232G>C (p.Gln744His)
|
rs748241492
|
|
NM_014425.5(INVS):c.2240G>A (p.Cys747Tyr)
|
|
|
NM_014425.5(INVS):c.2254G>A (p.Gly752Arg)
|
|
|
NM_014425.5(INVS):c.2283G>A (p.Arg761=)
|
|
|
NM_014425.5(INVS):c.2284C>A (p.Arg762=)
|
|
|
NM_014425.5(INVS):c.2286G>A (p.Arg762=)
|
|
|
NM_014425.5(INVS):c.2299C>T (p.Leu767Phe)
|
|
|
NM_014425.5(INVS):c.2299dup (p.Leu767fs)
|
|
|
NM_014425.5(INVS):c.2306C>T (p.Pro769Leu)
|
|
|
NM_014425.5(INVS):c.2322G>A (p.Trp774Ter)
|
|
|
NM_014425.5(INVS):c.2328C>G (p.Pro776=)
|
|
|
NM_014425.5(INVS):c.2334G>A (p.Arg778=)
|
|
|
NM_014425.5(INVS):c.2334G>C (p.Arg778Ser)
|
|
|
NM_014425.5(INVS):c.2340T>A (p.His780Gln)
|
|
|
NM_014425.5(INVS):c.234C>T (p.Asp78=)
|
|
|
NM_014425.5(INVS):c.2350C>T (p.Pro784Ser)
|
rs772382992
|
|
NM_014425.5(INVS):c.2351C>T (p.Pro784Leu)
|
rs1401794025
|
|
NM_014425.5(INVS):c.2361A>G (p.Lys787=)
|
|
|
NM_014425.5(INVS):c.2364T>C (p.Cys788=)
|
|
|
NM_014425.5(INVS):c.2367C>A (p.Ala789=)
|
|
|
NM_014425.5(INVS):c.2371C>T (p.Gln791Ter)
|
|
|
NM_014425.5(INVS):c.2372dup (p.Lys792fs)
|
rs2118762244
|
|
NM_014425.5(INVS):c.2385T>A (p.Thr795=)
|
|
|
NM_014425.5(INVS):c.239G>A (p.Ser80Asn)
|
rs1231356870
|
|
NM_014425.5(INVS):c.2412T>G (p.Ser804=)
|
rs2787374
|
|
NM_014425.5(INVS):c.2414C>T (p.Pro805Leu)
|
rs750979976
|
|
NM_014425.5(INVS):c.2415G>A (p.Pro805=)
|
rs192492227
|
|
NM_014425.5(INVS):c.2415G>T (p.Pro805=)
|
|
|
NM_014425.5(INVS):c.2424T>C (p.Ser808=)
|
|
|
NM_014425.5(INVS):c.2436C>T (p.Gly812=)
|
|
|
NM_014425.5(INVS):c.2441C>T (p.Ala814Val)
|
rs886063269
|
|
NM_014425.5(INVS):c.2445G>A (p.Arg815=)
|
|
|
NM_014425.5(INVS):c.2447G>T (p.Gly816Val)
|
|
|
NM_014425.5(INVS):c.2449dup (p.Glu817fs)
|
|
|
NM_014425.5(INVS):c.2457C>A (p.Val819=)
|
|
|
NM_014425.5(INVS):c.245del (p.Arg82fs)
|
|
|
NM_014425.5(INVS):c.2460T>C (p.His820=)
|
|
|
NM_014425.5(INVS):c.2463T>C (p.Ala821=)
|
|
|
NM_014425.5(INVS):c.2466G>C (p.Gly822=)
|
|
|
NM_014425.5(INVS):c.2489C>T (p.Thr830Ile)
|
rs886063270
|
|
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs)
|
rs777723411
|
|
NM_014425.5(INVS):c.2509C>T (p.Gln837Ter)
|
rs755549444
|
|
NM_014425.5(INVS):c.2520C>T (p.Leu840=)
|
rs1833665397
|
|
NM_014425.5(INVS):c.2522C>G (p.Thr841Arg)
|
rs1833665476
|
|
NM_014425.5(INVS):c.2523A>G (p.Thr841=)
|
|
|
NM_014425.5(INVS):c.2530C>T (p.Leu844Phe)
|
rs2118763419
|
|
NM_014425.5(INVS):c.2532C>T (p.Leu844=)
|
|
|
NM_014425.5(INVS):c.2540A>G (p.His847Arg)
|
|
|
NM_014425.5(INVS):c.2543T>C (p.Leu848Ser)
|
rs2118763519
|
|
NM_014425.5(INVS):c.2544G>A (p.Leu848=)
|
|
|
NM_014425.5(INVS):c.2557GAG[1] (p.Glu854del)
|
|
|
NM_014425.5(INVS):c.2563T>C (p.Leu855=)
|
|
|
NM_014425.5(INVS):c.2565G>A (p.Leu855=)
|
|
|
NM_014425.5(INVS):c.2568G>A (p.Arg856=)
|
rs886038604
|
|
NM_014425.5(INVS):c.256C>G (p.His86Asp)
|
|
|
NM_014425.5(INVS):c.2576C>G (p.Ala859Gly)
|
|
|
NM_014425.5(INVS):c.2576C>T (p.Ala859Val)
|
rs1554730793
|
|
NM_014425.5(INVS):c.2577T>G (p.Ala859=)
|
rs2118763681
|
|
NM_014425.5(INVS):c.2582G>C (p.Arg861Thr)
|
rs760537423
|
|
NM_014425.5(INVS):c.2584C>T (p.Leu862=)
|
|
|
NM_014425.5(INVS):c.2592A>G (p.Thr864=)
|
|
|
NM_014425.5(INVS):c.2595T>G (p.Ser865=)
|
|
|
NM_014425.5(INVS):c.2604C>G (p.Ser868=)
|
|
|
NM_014425.5(INVS):c.2605G>A (p.Glu869Lys)
|
|
|
NM_014425.5(INVS):c.2607G>A (p.Glu869=)
|
|
|
NM_014425.5(INVS):c.2610C>G (p.Asp870Glu)
|
|
|
NM_014425.5(INVS):c.2613T>C (p.Phe871=)
|
|
|
NM_014425.5(INVS):c.2614C>T (p.Gln872Ter)
|
|
|
NM_014425.5(INVS):c.2618dup (p.Ser874fs)
|
|
|
NM_014425.5(INVS):c.2619A>G (p.Val873=)
|
|
|
NM_014425.5(INVS):c.2620T>C (p.Ser874Pro)
|
rs1564193747
|
|
NM_014425.5(INVS):c.2622dup (p.Lys875Ter)
|
|
|
NM_014425.5(INVS):c.2625G>A (p.Lys875=)
|
|
|
NM_014425.5(INVS):c.2630C>T (p.Thr877Ile)
|
rs1411773135
|
|
NM_014425.5(INVS):c.2647C>A (p.Pro883Thr)
|
rs1833670830
|
|
NM_014425.5(INVS):c.2652C>A (p.Leu884=)
|
|
|
NM_014425.5(INVS):c.2652C>G (p.Leu884=)
|
|
|
NM_014425.5(INVS):c.2658G>A (p.Gly886=)
|
|
|
NM_014425.5(INVS):c.2659C>T (p.Gln887Ter)
|
|
|
NM_014425.5(INVS):c.2665G>A (p.Val889Met)
|
rs771857927
|
|
NM_014425.5(INVS):c.266C>T (p.Ala89Val)
|
rs1341471827
|
|
NM_014425.5(INVS):c.2676C>T (p.Asp892=)
|
|
|
NM_014425.5(INVS):c.2679_2681del (p.Leu894del)
|
rs1833672293
|
|
NM_014425.5(INVS):c.2686G>A (p.Val896Ile)
|
rs114847355
|
|
NM_014425.5(INVS):c.2686G>C (p.Val896Leu)
|
rs114847355
|
|
NM_014425.5(INVS):c.2695C>A (p.Arg899=)
|
rs200844390
|
|
NM_014425.5(INVS):c.269A>G (p.Gln90Arg)
|
rs1827890162
|
|
NM_014425.5(INVS):c.2700G>A (p.Leu900=)
|
rs768063927
|
|
NM_014425.5(INVS):c.2716_2717del (p.Glu906fs)
|
|
|
NM_014425.5(INVS):c.2719C>A (p.Arg907=)
|
rs267607185
|
|
NM_014425.5(INVS):c.2719C>T (p.Arg907Ter)
|
rs267607185
|
|
NM_014425.5(INVS):c.2720G>T (p.Arg907Leu)
|
rs781064013
|
|
NM_014425.5(INVS):c.2722A>G (p.Arg908Gly)
|
rs1430951841
|
|
NM_014425.5(INVS):c.2727G>A (p.Arg909=)
|
|
|
NM_014425.5(INVS):c.2729del (p.Lys910fs)
|
rs757019335
|
|
NM_014425.5(INVS):c.273+13del
|
|
|
NM_014425.5(INVS):c.273+15T>A
|
|
|
NM_014425.5(INVS):c.273+16T>C
|
|
|
NM_014425.5(INVS):c.273+1G>A
|
|
|
NM_014425.5(INVS):c.273+3G>A
|
rs2118895764
|
|
NM_014425.5(INVS):c.273+5G>A
|
rs1195767279
|
|
NM_014425.5(INVS):c.2730G>A (p.Lys910=)
|
|
|
NM_014425.5(INVS):c.274-13_274-9del
|
|
|
NM_014425.5(INVS):c.274-14T>C
|
|
|
NM_014425.5(INVS):c.274-153_274-152insTCTCA
|
rs60607451
|
|
NM_014425.5(INVS):c.274-15T>A
|
|
|
NM_014425.5(INVS):c.274-16_274-15del
|
|
|
NM_014425.5(INVS):c.274-20_274-16del
|
|
|
NM_014425.5(INVS):c.274-2A>G
|
|
|
NM_014425.5(INVS):c.274-304del
|
rs529005124
|
|
NM_014425.5(INVS):c.2750A>G (p.Asn917Ser)
|
|
|
NM_014425.5(INVS):c.2752A>G (p.Lys918Glu)
|
|
|
NM_014425.5(INVS):c.2757A>G (p.Ala919=)
|
|
|
NM_014425.5(INVS):c.2769C>A (p.Ile923=)
|
rs2118765013
|
|
NM_014425.5(INVS):c.276A>C (p.Gly92=)
|
rs1554724084
|
|
NM_014425.5(INVS):c.2772G>T (p.Gln924His)
|
|
|
NM_014425.5(INVS):c.2778C>A (p.Ala926=)
|
|
|
NM_014425.5(INVS):c.2779T>A (p.Trp927Arg)
|
|
|
NM_014425.5(INVS):c.2782C>A (p.Arg928=)
|
rs376879175
|
|
NM_014425.5(INVS):c.2784A>C (p.Arg928=)
|
|
|
NM_014425.5(INVS):c.2786+10T>C
|
|
|
NM_014425.5(INVS):c.2786+14G>A
|
|
|
NM_014425.5(INVS):c.2786+14del
|
|
|
NM_014425.5(INVS):c.2786+2T>C
|
rs1322951938
|
|
NM_014425.5(INVS):c.2787-17_2787-16del
|
rs1317434637
|
|
NM_014425.5(INVS):c.2787-4C>A
|
|
|
NM_014425.5(INVS):c.2787-4C>T
|
|
|
NM_014425.5(INVS):c.2787-8C>T
|
|
|
NM_014425.5(INVS):c.2794C>T (p.Leu932Phe)
|
rs2118781536
|
|
NM_014425.5(INVS):c.2799G>A (p.Arg933=)
|
|
|
NM_014425.5(INVS):c.2801del (p.Lys934fs)
|
rs2118781593
|
|
NM_014425.5(INVS):c.2802G>A (p.Lys934=)
|
|
|
NM_014425.5(INVS):c.2805C>A (p.His935Gln)
|
rs1265354401
|
|
NM_014425.5(INVS):c.2808G>T (p.Leu936=)
|
rs2118781641
|
|
NM_014425.5(INVS):c.2818C>G (p.Arg940Gly)
|
|
|
NM_014425.5(INVS):c.2818C>T (p.Arg940Trp)
|
|
|
NM_014425.5(INVS):c.2822A>C (p.His941Pro)
|
rs886042226
|
|
NM_014425.5(INVS):c.2822A>G (p.His941Arg)
|
rs886042226
|
|
NM_014425.5(INVS):c.2822A>T (p.His941Leu)
|
rs886042226
|
|
NM_014425.5(INVS):c.2829G>A (p.Lys943=)
|
|
|
NM_014425.5(INVS):c.282T>C (p.Tyr94=)
|
|
|
NM_014425.5(INVS):c.2832G>A (p.Gln944=)
|
|
|
NM_014425.5(INVS):c.2834T>A (p.Leu945His)
|
rs757927270
|
|
NM_014425.5(INVS):c.2834T>C (p.Leu945Pro)
|
rs757927270
|
|
NM_014425.5(INVS):c.2841T>G (p.Ala947=)
|
|
|
NM_014425.5(INVS):c.2843G>A (p.Gly948Glu)
|
rs1564195393
|
|
NM_014425.5(INVS):c.2844A>G (p.Gly948=)
|
|
|
NM_014425.5(INVS):c.2844_2848del (p.Asp949fs)
|
|
|
NM_014425.5(INVS):c.2858G>A (p.Trp953Ter)
|
rs1564195414
|
|
NM_014425.5(INVS):c.2861G>A (p.Arg954Lys)
|
rs2118781948
|
|
NM_014425.5(INVS):c.2866G>A (p.Glu956Lys)
|
|
|
NM_014425.5(INVS):c.2868G>A (p.Glu956=)
|
|
|
NM_014425.5(INVS):c.2874A>G (p.Thr958=)
|
rs886063271
|
|
NM_014425.5(INVS):c.2877A>G (p.Ala959=)
|
|
|
NM_014425.5(INVS):c.2887C>T (p.Gln963Ter)
|
rs1425211517
|
|
NM_014425.5(INVS):c.2894G>A (p.Trp965Ter)
|
|
|
NM_014425.5(INVS):c.2898G>A (p.Arg966=)
|
|
|
NM_014425.5(INVS):c.2903A>C (p.Glu968Ala)
|
rs1366429329
|
|
NM_014425.5(INVS):c.2905C>G (p.Leu969Val)
|
rs1833811478
|
|
NM_014425.5(INVS):c.2933C>T (p.Ala978Val)
|
rs794727147
|
|
NM_014425.5(INVS):c.2935G>A (p.Val979Ile)
|
|
|
NM_014425.5(INVS):c.2941A>G (p.Lys981Glu)
|
rs1833812606
|
|
NM_014425.5(INVS):c.2947C>G (p.Pro983Ala)
|
rs2118782522
|
|
NM_014425.5(INVS):c.2949C>G (p.Pro983=)
|
|
|
NM_014425.5(INVS):c.2949C>T (p.Pro983=)
|
|
|
NM_014425.5(INVS):c.2949dup (p.Lys984fs)
|
rs1588153872
|
|
NM_014425.5(INVS):c.2958A>C (p.Pro986=)
|
|
|
NM_014425.5(INVS):c.2967C>T (p.Gly989=)
|
|
|
NM_014425.5(INVS):c.2972C>G (p.Ser991Ter)
|
rs1329661241
|
|
NM_014425.5(INVS):c.2979A>G (p.Thr993=)
|
|
|
NM_014425.5(INVS):c.297C>G (p.Leu99=)
|
|
|
NM_014425.5(INVS):c.2984C>A (p.Ser995Tyr)
|
|
|
NM_014425.5(INVS):c.2985C>T (p.Ser995=)
|
|
|
NM_014425.5(INVS):c.2986A>G (p.Thr996Ala)
|
|
|
NM_014425.5(INVS):c.2995T>C (p.Ser999Pro)
|
rs1833814101
|
|
NM_014425.5(INVS):c.2996C>G (p.Ser999Ter)
|
|
|
NM_014425.5(INVS):c.3000G>A (p.Val1000=)
|
|
|
NM_014425.5(INVS):c.3016+15G>A
|
rs1270671278
|
|
NM_014425.5(INVS):c.3017-11del
|
|
|
NM_014425.5(INVS):c.3017-17T>G
|
|
|
NM_014425.5(INVS):c.3017-20_3017-19del
|
rs2118786046
|
|
NM_014425.5(INVS):c.3017GTT[1] (p.Cys1007del)
|
|
|
NM_014425.5(INVS):c.3024T>C (p.Ser1008=)
|
|
|
NM_014425.5(INVS):c.302_305del (p.Leu101fs)
|
|
|
NM_014425.5(INVS):c.3033G>C (p.Gly1011=)
|
|
|
NM_014425.5(INVS):c.3038T>G (p.Ile1013Arg)
|
rs1833838349
|
|
NM_014425.5(INVS):c.3044A>T (p.His1015Leu)
|
rs2118786271
|
|
NM_014425.5(INVS):c.3051A>G (p.Thr1017=)
|
rs1381275842
|
|
NM_014425.5(INVS):c.3052A>C (p.Arg1018=)
|
|
|
NM_014425.5(INVS):c.3056C>G (p.Ser1019Cys)
|
rs886063272
|
|
NM_014425.5(INVS):c.3062_3063del (p.Lys1021fs)
|
|
|
NM_014425.5(INVS):c.3085A>G (p.Asn1029Asp)
|
|
|
NM_014425.5(INVS):c.3091+10C>G
|
|
|
NM_014425.5(INVS):c.3091+7C>T
|
|
|
NM_014425.5(INVS):c.3092-11_3092-6del
|
rs1245384768
|
|
NM_014425.5(INVS):c.3092-11del
|
|
|
NM_014425.5(INVS):c.3092-17del
|
|
|
NM_014425.5(INVS):c.3092-19T>G
|
|
|
NM_014425.5(INVS):c.3092-6del
|
rs886044279
|
|
NM_014425.5(INVS):c.3092-7T>C
|
rs1588156673
|
|
NM_014425.5(INVS):c.309C>T (p.Arg103=)
|
|
|
NM_014425.5(INVS):c.3102A>G (p.Leu1034=)
|
rs768286522
|
|
NM_014425.5(INVS):c.3104del (p.Gln1035fs)
|
rs2118799345
|
|
NM_014425.5(INVS):c.3117_3119del (p.Leu1040del)
|
rs1273204300
|
|
NM_014425.5(INVS):c.3125del (p.Asn1042fs)
|
rs878855333
|
|
NM_014425.5(INVS):c.3128G>A (p.Ser1043Asn)
|
|
|
NM_014425.5(INVS):c.3129T>C (p.Ser1043=)
|
|
|
NM_014425.5(INVS):c.3137_3138insTTC (p.Ser1046dup)
|
rs778453251
|
|
NM_014425.5(INVS):c.3138A>C (p.Ser1046=)
|
rs889561540
|
|
NM_014425.5(INVS):c.3138A>G (p.Ser1046=)
|
|
|
NM_014425.5(INVS):c.3159G>A (p.Leu1053=)
|
|
|
NM_014425.5(INVS):c.3182A>C (p.Asn1061Thr)
|
|
|
NM_014425.5(INVS):c.3182dup (p.Asn1061fs)
|
rs760013326
|
|
NM_014425.5(INVS):c.3185A>G (p.Lys1062Arg)
|
rs758703044
|
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NM_014425.5(INVS):c.3189A>C (p.Thr1063=)
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NM_014425.5(INVS):c.3189_3193dup (p.Pro1065fs)
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NM_014425.5(INVS):c.3193C>G (p.Pro1065Ala)
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NM_014425.5(INVS):c.319T>C (p.Trp107Arg)
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NM_014425.5(INVS):c.321G>A (p.Trp107Ter)
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NM_014425.5(INVS):c.325C>T (p.Gln109Ter)
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NM_014425.5(INVS):c.330G>A (p.Lys110=)
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NM_014425.5(INVS):c.336G>A (p.Leu112=)
|
rs1564165829
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NM_014425.5(INVS):c.337del (p.Glu113fs)
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NM_014425.5(INVS):c.342G>C (p.Glu114Asp)
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NM_014425.5(INVS):c.342_343del (p.Glu114fs)
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NM_014425.5(INVS):c.349C>T (p.Pro117Ser)
|
rs1021818693
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NM_014425.5(INVS):c.357C>T (p.His119=)
|
rs138668044
|
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NM_014425.5(INVS):c.360G>A (p.Leu120=)
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NM_014425.5(INVS):c.360G>T (p.Leu120Phe)
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NM_014425.5(INVS):c.363C>T (p.Thr121=)
|
rs1588103260
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NM_014425.5(INVS):c.366C>T (p.Thr122=)
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NM_014425.5(INVS):c.367C>A (p.Arg123=)
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NM_014425.5(INVS):c.371A>G (p.His124Arg)
|
rs1251662430
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NM_014425.5(INVS):c.372C>T (p.His124=)
|
rs1588103280
|
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NM_014425.5(INVS):c.39A>G (p.Ser13=)
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NM_014425.5(INVS):c.400C>T (p.Leu134=)
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NM_014425.5(INVS):c.402G>A (p.Leu134=)
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NM_014425.5(INVS):c.406T>A (p.Phe136Ile)
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rs1831314008
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NM_014425.5(INVS):c.410T>C (p.Met137Thr)
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rs375209595
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NM_014425.5(INVS):c.431C>T (p.Thr144Ile)
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NM_014425.5(INVS):c.447+13C>G
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NM_014425.5(INVS):c.447+18T>C
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NM_014425.5(INVS):c.447+4A>C
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NM_014425.5(INVS):c.447+8A>C
|
rs2118405041
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NM_014425.5(INVS):c.447+9T>C
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NM_014425.5(INVS):c.448-10G>A
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NM_014425.5(INVS):c.448-11C>T
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NM_014425.5(INVS):c.448-19G>T
|
rs760646531
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NM_014425.5(INVS):c.448-2A>G
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NM_014425.5(INVS):c.459G>A (p.Leu153=)
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NM_014425.5(INVS):c.461A>G (p.His154Arg)
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rs1386694263
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NM_014425.5(INVS):c.462T>C (p.His154=)
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NM_014425.5(INVS):c.469G>A (p.Ala157Thr)
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rs1831445347
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NM_014425.5(INVS):c.476A>G (p.Tyr159Cys)
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rs2118428051
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NM_014425.5(INVS):c.477C>T (p.Tyr159=)
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NM_014425.5(INVS):c.484C>G (p.Pro162Ala)
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rs1564167356
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NM_014425.5(INVS):c.486T>C (p.Pro162=)
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NM_014425.5(INVS):c.487G>C (p.Glu163Gln)
|
rs1831445837
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NM_014425.5(INVS):c.48A>T (p.Ser16=)
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NM_014425.5(INVS):c.491A>G (p.His164Arg)
|
rs1831445914
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NM_014425.5(INVS):c.497_512dup (p.His171fs)
|
rs779545419
|
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NM_014425.5(INVS):c.497del (p.Lys166fs)
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NM_014425.5(INVS):c.504C>T (p.Leu168=)
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NM_014425.5(INVS):c.512A>G (p.His171Arg)
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NM_014425.5(INVS):c.513T>C (p.His171=)
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NM_014425.5(INVS):c.522C>T (p.Asn174=)
|
rs2118428478
|
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NM_014425.5(INVS):c.525T>A (p.Ile175=)
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NM_014425.5(INVS):c.536A>T (p.Asp179Val)
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NM_014425.5(INVS):c.546C>G (p.Gly182=)
|
rs1289228389
|
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NM_014425.5(INVS):c.564G>A (p.Trp188Ter)
|
rs1564167474
|
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NM_014425.5(INVS):c.582T>A (p.Asp194Glu)
|
rs2118429045
|
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NM_014425.5(INVS):c.597C>T (p.His199=)
|
rs2118429203
|
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NM_014425.5(INVS):c.615+10A>G
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|
NM_014425.5(INVS):c.615+12G>C
|
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NM_014425.5(INVS):c.615+13G>T
|
rs761240492
|
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NM_014425.5(INVS):c.615+16C>A
|
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|
NM_014425.5(INVS):c.615+1G>A
|
rs955421639
|
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NM_014425.5(INVS):c.615G>C (p.Leu205=)
|
rs140664868
|
|
NM_014425.5(INVS):c.616-11C>T
|
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|
NM_014425.5(INVS):c.616-15G>A
|
rs2118493033
|
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NM_014425.5(INVS):c.621T>C (p.Ala207=)
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|
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NM_014425.5(INVS):c.630dup (p.Glu211fs)
|
|
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NM_014425.5(INVS):c.640C>T (p.Leu214=)
|
rs2118493268
|
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NM_014425.5(INVS):c.645C>G (p.Asn215Lys)
|
|
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NM_014425.5(INVS):c.648G>A (p.Trp216Ter)
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|
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NM_014425.5(INVS):c.662dup (p.Arg222fs)
|
rs769739938
|
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NM_014425.5(INVS):c.663T>G (p.Gly221=)
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NM_014425.5(INVS):c.664C>T (p.Arg222Ter)
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|
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NM_014425.5(INVS):c.66C>A (p.Ala22=)
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|
NM_014425.5(INVS):c.671C>G (p.Pro224Arg)
|
|
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NM_014425.5(INVS):c.673_674del (p.Leu225fs)
|
rs1205325321
|
|
NM_014425.5(INVS):c.67G>C (p.Val23Leu)
|
rs145303373
|
|
NM_014425.5(INVS):c.6C>A (p.Asn2Lys)
|
rs1827109471
|
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NM_014425.5(INVS):c.707T>C (p.Val236Ala)
|
|
|
NM_014425.5(INVS):c.708G>T (p.Val236=)
|
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NM_014425.5(INVS):c.711T>C (p.Val237=)
|
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|
NM_014425.5(INVS):c.717C>T (p.Val239=)
|
rs2118493849
|
|
NM_014425.5(INVS):c.722C>T (p.Thr241Ile)
|
rs1248564172
|
|
NM_014425.5(INVS):c.723C>T (p.Thr241=)
|
|
|
NM_014425.5(INVS):c.753T>G (p.Tyr251Ter)
|
rs2118494165
|
|
NM_014425.5(INVS):c.756T>C (p.Asp252=)
|
|
|
NM_014425.5(INVS):c.766C>T (p.Arg256Ter)
|
|
|
NM_014425.5(INVS):c.772C>T (p.Pro258Ser)
|
rs866679782
|
|
NM_014425.5(INVS):c.773C>G (p.Pro258Arg)
|
|
|
NM_014425.5(INVS):c.775C>T (p.Leu259=)
|
rs886063264
|
|
NM_014425.5(INVS):c.777G>T (p.Leu259=)
|
|
|
NM_014425.5(INVS):c.778C>T (p.His260Tyr)
|
|
|
NM_014425.5(INVS):c.779A>C (p.His260Pro)
|
rs747189159
|
|
NM_014425.5(INVS):c.786dup (p.Ala263fs)
|
rs1564172023
|
|
NM_014425.5(INVS):c.796+11C>T
|
|
|
NM_014425.5(INVS):c.796+15G>A
|
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|
NM_014425.5(INVS):c.796+17A>C
|
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|
NM_014425.5(INVS):c.796+19C>T
|
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|
NM_014425.5(INVS):c.796+20A>G
|
|
|
NM_014425.5(INVS):c.796+8A>G
|
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|
NM_014425.5(INVS):c.797-14G>A
|
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|
NM_014425.5(INVS):c.797-4T>C
|
|
|
NM_014425.5(INVS):c.797-5C>G
|
|
|
NM_014425.5(INVS):c.797-6T>C
|
|
|
NM_014425.5(INVS):c.797-9T>A
|
|
|
NM_014425.5(INVS):c.798C>A (p.Gly266=)
|
|
|
NM_014425.5(INVS):c.805_806del (p.Gln269fs)
|
|
|
NM_014425.5(INVS):c.809T>C (p.Ile270Thr)
|
rs1564172870
|
|
NM_014425.5(INVS):c.822T>G (p.Leu274=)
|
|
|
NM_014425.5(INVS):c.830G>A (p.Arg277Lys)
|
rs1230011174
|
|
NM_014425.5(INVS):c.832A>G (p.Asn278Asp)
|
|
|
NM_014425.5(INVS):c.832A>T (p.Asn278Tyr)
|
|
|
NM_014425.5(INVS):c.833del (p.Asn278fs)
|
|
|
NM_014425.5(INVS):c.83del (p.Gly28fs)
|
rs763565647
|
|
NM_014425.5(INVS):c.849C>T (p.Ile283=)
|
rs886038605
|
|
NM_014425.5(INVS):c.864A>G (p.Gln288=)
|
|
|
NM_014425.5(INVS):c.875C>T (p.Pro292Leu)
|
rs1831916010
|
|
NM_014425.5(INVS):c.882C>T (p.His294=)
|
|
|
NM_014425.5(INVS):c.885T>C (p.Tyr295=)
|
|
|
NM_014425.5(INVS):c.88C>T (p.Leu30=)
|
|
|
NM_014425.5(INVS):c.906+14G>A
|
|
|
NM_014425.5(INVS):c.906+14del
|
|
|
NM_014425.5(INVS):c.906+16C>T
|
|
|
NM_014425.5(INVS):c.906+18A>G
|
|
|
NM_014425.5(INVS):c.906+1G>A
|
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|
NM_014425.5(INVS):c.906+20G>C
|
|
|
NM_014425.5(INVS):c.907-11T>C
|
|
|
NM_014425.5(INVS):c.907-13dup
|
rs750082874
|
|
NM_014425.5(INVS):c.907-19A>T
|
|
|
NM_014425.5(INVS):c.907-1G>A
|
|
|
NM_014425.5(INVS):c.907-3C>T
|
|
|
NM_014425.5(INVS):c.90A>G (p.Leu30=)
|
|
|
NM_014425.5(INVS):c.911C>T (p.Thr304Met)
|
|
|
NM_014425.5(INVS):c.912G>T (p.Thr304=)
|
rs141109039
|
|
NM_014425.5(INVS):c.914T>G (p.Val305Gly)
|
|
|
NM_014425.5(INVS):c.915T>A (p.Val305=)
|
|
|
NM_014425.5(INVS):c.916A>G (p.Lys306Glu)
|
rs878854981
|
|
NM_014425.5(INVS):c.92A>G (p.Gln31Arg)
|
rs1003287751
|
|
NM_014425.5(INVS):c.954A>C (p.Ser318=)
|
|
|
NM_014425.5(INVS):c.954A>G (p.Ser318=)
|
rs778265507
|
|
NM_014425.5(INVS):c.958C>T (p.Leu320=)
|
|
|
NM_014425.5(INVS):c.96G>A (p.Arg32=)
|
rs1588000254
|
|
NM_014425.5(INVS):c.983G>A (p.Trp328Ter)
|
|
|
NM_014425.5(INVS):c.985G>T (p.Ala329Ser)
|
rs1212648125
|
|
NM_014425.5(INVS):c.986C>A (p.Ala329Glu)
|
rs1202806202
|
|
NM_014425.5(INVS):c.990T>G (p.Ala330=)
|
|
|
NM_014425.5(INVS):c.99C>G (p.Leu33=)
|
|
|
NM_014425.5(INVS):c.[796+5G>A;805_806del]
|
|
|