NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=)
|
rs1051419
|
0.71278
|
NM_000214.3(JAG1):c.756-67A>G
|
rs6040055
|
0.66772
|
NM_000214.3(JAG1):c.765= (p.Tyr255=)
|
rs1131695
|
0.57070
|
NM_000214.3(JAG1):c.*1572A>G
|
rs8708
|
0.55702
|
NM_000214.3(JAG1):c.-385T>G
|
rs1051412
|
0.55267
|
NM_000214.3(JAG1):c.440-173C>T
|
rs2273061
|
0.45420
|
NM_000214.3(JAG1):c.440-15T>C
|
rs2273060
|
0.42936
|
NM_000214.3(JAG1):c.765C>T (p.Tyr255=)
|
rs1131695
|
0.42930
|
NM_000214.3(JAG1):c.694+270C>A
|
rs35531956
|
0.37225
|
NM_000214.3(JAG1):c.2458+236T>C
|
rs889509
|
0.36136
|
NM_000214.3(JAG1):c.3417= (p.Tyr1139=)
|
rs1051419
|
0.28722
|
NM_000214.3(JAG1):c.*1132T>G
|
rs7828
|
0.27086
|
NM_000214.3(JAG1):c.3199+218G>A
|
rs6040050
|
0.24704
|
NM_000214.3(JAG1):c.82-85C>T
|
rs62185096
|
0.22775
|
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=)
|
rs1051421
|
0.22213
|
NM_000214.3(JAG1):c.2572+117A>G
|
rs73075343
|
0.17344
|
NM_000214.3(JAG1):c.3199+126T>G
|
rs6074164
|
0.14552
|
NM_000214.3(JAG1):c.2572+274G>A
|
rs73075342
|
0.14446
|
NM_000214.3(JAG1):c.1349-117A>C
|
rs6108653
|
0.13693
|
NM_000214.3(JAG1):c.588C>T (p.Cys196=)
|
rs1801138
|
0.10620
|
NM_000214.3(JAG1):c.1885+252C>T
|
rs73243764
|
0.08797
|
NM_000214.3(JAG1):c.2214A>C (p.Thr738=)
|
rs1801140
|
0.08364
|
NM_000214.3(JAG1):c.267G>A (p.Gly89=)
|
rs1051415
|
0.08298
|
NM_000214.3(JAG1):c.2382C>T (p.Ser794=)
|
rs56225585
|
0.07991
|
NM_000214.3(JAG1):c.1396-155A>G
|
rs35308216
|
0.07456
|
NM_000214.3(JAG1):c.-433G>A
|
rs73611723
|
0.07399
|
NC_000020.11:g.10674216C>T
|
rs7264849
|
0.07239
|
NM_000214.3(JAG1):c.755+287T>C
|
rs76730346
|
0.06958
|
NM_000214.3(JAG1):c.744A>G (p.Pro248=)
|
rs10485741
|
0.06947
|
NM_000214.3(JAG1):c.695-231A>C
|
rs55649270
|
0.05717
|
NM_000214.3(JAG1):c.388-43C>T
|
rs17536052
|
0.05590
|
NM_000214.3(JAG1):c.755+114A>T
|
rs76481877
|
0.05554
|
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg)
|
rs35761929
|
0.04795
|
NC_000020.11:g.10674110T>G
|
rs78307895
|
0.03602
|
NM_000214.3(JAG1):c.1570-136T>A
|
rs73075352
|
0.03460
|
NM_000214.3(JAG1):c.2917-32dup
|
rs75617279
|
0.03277
|
NM_000214.3(JAG1):c.3199+258G>T
|
rs79656997
|
0.02875
|
NM_000214.3(JAG1):c.694+242C>A
|
rs62185094
|
0.02607
|
NM_000214.3(JAG1):c.270G>T (p.Gly90=)
|
rs114048678
|
0.02490
|
NM_000214.3(JAG1):c.387+117G>T
|
rs6108660
|
0.02485
|
NM_000214.3(JAG1):c.1006+202C>T
|
rs35793014
|
0.02369
|
NM_000214.3(JAG1):c.924C>T (p.Asn308=)
|
rs45575136
|
0.02367
|
NM_000214.3(JAG1):c.388-149C>T
|
rs74464347
|
0.02321
|
NM_000214.3(JAG1):c.2917-30A>G
|
rs6108652
|
0.02177
|
NM_000214.3(JAG1):c.1886-231T>G
|
rs113194138
|
0.02129
|
NM_000214.3(JAG1):c.1885+272G>A
|
rs112509369
|
0.02105
|
NM_000214.3(JAG1):c.2458+30A>G
|
rs2273059
|
0.02094
|
NM_000214.3(JAG1):c.2000-120C>T
|
rs74803975
|
0.02080
|
NM_000214.3(JAG1):c.755+51G>A
|
rs34742789
|
0.01983
|
NM_000214.3(JAG1):c.2766C>T (p.Asp922=)
|
rs2229895
|
0.01701
|
NM_000214.3(JAG1):c.1885+41C>T
|
rs115435195
|
0.01630
|
NM_000214.3(JAG1):c.439+170T>C
|
rs143041552
|
0.01598
|
NM_000214.3(JAG1):c.2459-345C>T
|
rs114221614
|
0.01565
|
NM_000214.3(JAG1):c.388-229C>T
|
rs141132457
|
0.01419
|
NM_000214.3(JAG1):c.436G>A (p.Val146Ile)
|
rs6040067
|
0.01238
|
NM_000214.3(JAG1):c.2572+281C>T
|
rs116310079
|
0.01202
|
NM_000214.3(JAG1):c.1999+173A>G
|
rs116234949
|
0.01089
|
NM_000214.3(JAG1):c.694+55A>G
|
rs60171534
|
0.00926
|
NM_000214.3(JAG1):c.2227+17C>T
|
rs115449289
|
0.00903
|
NM_000214.3(JAG1):c.1006+157A>T
|
rs139795187
|
0.00893
|
NM_000214.3(JAG1):c.1121-205C>T
|
rs55917221
|
0.00698
|
NM_000214.3(JAG1):c.*756A>G
|
rs45534738
|
0.00635
|
NM_000214.3(JAG1):c.2572+194C>G
|
rs113708660
|
0.00634
|
NM_000214.3(JAG1):c.2459-17A>C
|
rs35891274
|
0.00618
|
NM_000214.3(JAG1):c.2573-16C>T
|
rs112196689
|
0.00608
|
NM_000214.3(JAG1):c.2345-76A>G
|
rs114405662
|
0.00540
|
NM_000214.3(JAG1):c.*619C>T
|
rs146144464
|
0.00491
|
NM_000214.3(JAG1):c.1570-28C>G
|
rs144983462
|
0.00425
|
NM_000214.3(JAG1):c.887-58A>G
|
rs199902368
|
0.00404
|
NM_000214.3(JAG1):c.-384T>G
|
rs559044448
|
0.00399
|
NM_000214.3(JAG1):c.1721-21G>A
|
rs35357944
|
0.00396
|
NM_000214.3(JAG1):c.2458+28C>T
|
rs77308315
|
0.00379
|
NM_000214.3(JAG1):c.2572+47G>A
|
rs147841407
|
0.00290
|
NM_000214.3(JAG1):c.2458+62C>T
|
rs146155406
|
0.00265
|
NM_000214.3(JAG1):c.439+86T>C
|
rs184638975
|
0.00261
|
NM_000214.3(JAG1):c.886+19A>T
|
rs200311847
|
0.00226
|
NM_000214.3(JAG1):c.2458+143G>A
|
rs149552847
|
0.00201
|
NM_000214.3(JAG1):c.1007-16A>G
|
rs201709907
|
0.00198
|
NM_000214.2(JAG1):c.-514G>C
|
rs533596136
|
0.00192
|
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln)
|
rs145895196
|
0.00180
|
NM_000214.3(JAG1):c.2301G>A (p.Thr767=)
|
rs147634857
|
0.00165
|
NM_000214.3(JAG1):c.2459-99T>A
|
rs559816430
|
0.00129
|
NM_000214.3(JAG1):c.694+121T>C
|
rs148689714
|
0.00128
|
NM_000214.3(JAG1):c.909T>C (p.His303=)
|
rs139574260
|
0.00121
|
NM_000214.3(JAG1):c.1120+10A>G
|
rs201711717
|
0.00118
|
NM_000214.3(JAG1):c.2778C>T (p.Phe926=)
|
rs147793030
|
0.00109
|
NM_000214.3(JAG1):c.*1551C>T
|
rs760811504
|
0.00101
|
NM_000214.3(JAG1):c.1578C>T (p.Ile526=)
|
rs1801139
|
0.00092
|
NM_000214.3(JAG1):c.439+10G>A
|
rs201371037
|
0.00081
|
NM_000214.3(JAG1):c.1349-11T>G
|
rs80338240
|
0.00076
|
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln)
|
rs147809756
|
0.00069
|
NM_000214.3(JAG1):c.2458+40C>T
|
rs199571405
|
0.00064
|
NM_000214.3(JAG1):c.133G>T (p.Val45Leu)
|
rs183974372
|
0.00054
|
NM_000214.3(JAG1):c.1389C>T (p.Ser463=)
|
rs147229008
|
0.00050
|
NM_000214.3(JAG1):c.2228-68G>A
|
rs371437476
|
0.00049
|
NM_000214.3(JAG1):c.1755C>T (p.Asn585=)
|
rs142808131
|
0.00045
|
NM_000214.3(JAG1):c.1235-87C>A
|
rs138284356
|
0.00044
|
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser)
|
rs202063628
|
0.00044
|
NM_000214.3(JAG1):c.2573-49C>T
|
rs144886349
|
0.00044
|
NM_000214.3(JAG1):c.814G>A (p.Val272Ile)
|
rs148990028
|
0.00041
|
NM_000214.3(JAG1):c.1920C>T (p.Asn640=)
|
rs372121353
|
0.00040
|
NM_000214.3(JAG1):c.894T>C (p.Asn298=)
|
rs149897344
|
0.00039
|
NM_000214.3(JAG1):c.*1637A>G
|
rs886056505
|
0.00037
|
NM_000214.3(JAG1):c.2604T>C (p.Ser868=)
|
rs138189639
|
0.00032
|
NM_000214.3(JAG1):c.82G>C (p.Val28Leu)
|
rs142855305
|
0.00031
|
NM_000214.3(JAG1):c.*1084G>C
|
rs148175963
|
0.00030
|
NM_000214.3(JAG1):c.*6C>T
|
rs376881523
|
0.00029
|
NM_000214.3(JAG1):c.2043G>A (p.Thr681=)
|
rs151291264
|
0.00029
|
NM_000214.3(JAG1):c.2344+15C>G
|
rs200139177
|
0.00029
|
NM_000214.3(JAG1):c.1569+47C>T
|
rs184530396
|
0.00028
|
NM_000214.3(JAG1):c.3114T>G (p.Leu1038=)
|
rs371805640
|
0.00026
|
NM_000214.3(JAG1):c.414G>A (p.Ala138=)
|
rs371682149
|
0.00026
|
NM_000214.3(JAG1):c.*297C>T
|
rs575525743
|
0.00025
|
NM_000214.3(JAG1):c.3280C>T (p.Arg1094Trp)
|
rs75652750
|
0.00024
|
NM_000214.3(JAG1):c.399G>A (p.Thr133=)
|
rs763154396
|
0.00024
|
NM_000214.3(JAG1):c.3296C>T (p.Pro1099Leu)
|
rs200949270
|
0.00023
|
NM_000214.3(JAG1):c.1348+3G>A
|
rs368718180
|
0.00022
|
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=)
|
rs138452567
|
0.00022
|
NM_000214.3(JAG1):c.2073T>C (p.Cys691=)
|
rs200648035
|
0.00019
|
NM_000214.3(JAG1):c.2459-13C>T
|
rs543005578
|
0.00017
|
NM_000214.3(JAG1):c.*914G>A
|
rs111277443
|
0.00016
|
NM_000214.3(JAG1):c.1628G>A (p.Arg543His)
|
rs544877858
|
0.00016
|
NM_000214.3(JAG1):c.2596A>G (p.Met866Val)
|
rs746108409
|
0.00016
|
NM_000214.3(JAG1):c.2979C>T (p.Ser993=)
|
rs542976402
|
0.00016
|
NM_000214.3(JAG1):c.3048+49C>T
|
rs139092361
|
0.00016
|
NM_000214.3(JAG1):c.1806C>T (p.His602=)
|
rs764290237
|
0.00015
|
NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr)
|
rs574205422
|
0.00015
|
NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln)
|
rs139629694
|
0.00015
|
NM_000214.3(JAG1):c.*253C>T
|
rs780887274
|
0.00014
|
NM_000214.3(JAG1):c.-42G>T
|
rs374222937
|
0.00014
|
NM_000214.3(JAG1):c.1043G>A (p.Arg348Lys)
|
rs200227737
|
0.00014
|
NM_000214.3(JAG1):c.1885+17C>T
|
rs547655628
|
0.00014
|
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)
|
rs143966918
|
0.00014
|
NM_000214.3(JAG1):c.694+26C>T
|
rs377623653
|
0.00014
|
NM_000214.3(JAG1):c.*641C>A
|
rs866626696
|
0.00013
|
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=)
|
rs142017684
|
0.00013
|
NM_000214.3(JAG1):c.526G>A (p.Val176Ile)
|
rs199674138
|
0.00013
|
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met)
|
rs368438076
|
0.00012
|
NM_000214.3(JAG1):c.*1668A>C
|
rs943169809
|
0.00011
|
NM_000214.3(JAG1):c.1146C>T (p.Asn382=)
|
rs200133928
|
0.00011
|
NM_000214.3(JAG1):c.1885+12T>C
|
rs377670685
|
0.00011
|
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys)
|
rs563232654
|
0.00011
|
NM_000214.3(JAG1):c.2286C>T (p.Asn762=)
|
rs144190443
|
0.00011
|
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln)
|
rs149419694
|
0.00011
|
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr)
|
rs150811951
|
0.00011
|
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp)
|
rs377723772
|
0.00011
|
NM_000214.3(JAG1):c.1115C>T (p.Ser372Phe)
|
rs772669312
|
0.00010
|
NM_000214.3(JAG1):c.1570-20G>A
|
rs140937305
|
0.00010
|
NM_000214.3(JAG1):c.1608C>T (p.Asn536=)
|
rs200648453
|
0.00010
|
NM_000214.3(JAG1):c.2917-7G>A
|
rs201573066
|
0.00010
|
NM_000214.3(JAG1):c.1335G>A (p.Gln445=)
|
rs759545669
|
0.00009
|
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu)
|
rs199505265
|
0.00009
|
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp)
|
rs760470297
|
0.00009
|
NM_000214.3(JAG1):c.3567G>A (p.Thr1189=)
|
rs373846021
|
0.00009
|
NM_000214.3(JAG1):c.1720+17G>A
|
rs371096301
|
0.00008
|
NM_000214.3(JAG1):c.3003T>A (p.Ala1001=)
|
rs775926205
|
0.00008
|
NM_000214.3(JAG1):c.3006C>T (p.Cys1002=)
|
rs372984801
|
0.00008
|
NM_000214.3(JAG1):c.1062C>T (p.Thr354=)
|
rs201234509
|
0.00007
|
NM_000214.3(JAG1):c.1344C>T (p.Asp448=)
|
rs754081766
|
0.00007
|
NM_000214.3(JAG1):c.2517C>T (p.Ile839=)
|
rs560603550
|
0.00007
|
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu)
|
rs767826365
|
0.00007
|
NM_000214.3(JAG1):c.3154G>A (p.Val1052Ile)
|
rs375200637
|
0.00007
|
NM_000214.3(JAG1):c.3260C>T (p.Thr1087Met)
|
rs763164530
|
0.00007
|
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)
|
rs150295026
|
0.00007
|
NM_000214.3(JAG1):c.732T>G (p.Ser244=)
|
rs577656334
|
0.00007
|
NM_000214.3(JAG1):c.1015G>T (p.Ala339Ser)
|
rs751516838
|
0.00006
|
NM_000214.3(JAG1):c.1383C>T (p.Asp461=)
|
rs140604589
|
0.00006
|
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu)
|
rs201785359
|
0.00006
|
NM_000214.3(JAG1):c.1720+16C>T
|
rs374498402
|
0.00006
|
NM_000214.3(JAG1):c.204C>T (p.Arg68=)
|
rs565407240
|
0.00006
|
NM_000214.3(JAG1):c.2298T>C (p.Phe766=)
|
rs771544217
|
0.00006
|
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met)
|
rs140330283
|
0.00006
|
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg)
|
rs376092818
|
0.00006
|
NM_000214.3(JAG1):c.2527C>T (p.Arg843Trp)
|
rs201608372
|
0.00006
|
NM_000214.3(JAG1):c.2877G>A (p.Ala959=)
|
rs142085300
|
0.00006
|
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=)
|
rs754593633
|
0.00006
|
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala)
|
rs909905245
|
0.00006
|
NM_000214.3(JAG1):c.3333C>T (p.Thr1111=)
|
rs141439542
|
0.00006
|
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met)
|
rs148373907
|
0.00006
|
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp)
|
rs397515876
|
0.00006
|
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln)
|
rs138007561
|
0.00006
|
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)
|
rs1026004197
|
0.00006
|
NM_000214.3(JAG1):c.756-14C>T
|
rs757351921
|
0.00006
|
NM_000214.3(JAG1):c.1195G>A (p.Val399Met)
|
rs181970528
|
0.00005
|
NM_000214.3(JAG1):c.1464C>T (p.Ile488=)
|
rs374629171
|
0.00005
|
NM_000214.3(JAG1):c.2287G>A (p.Gly763Ser)
|
rs746939887
|
0.00005
|
NM_000214.3(JAG1):c.2673C>T (p.Ala891=)
|
rs149889701
|
0.00005
|
NM_000214.3(JAG1):c.2781C>T (p.Val927=)
|
rs746664646
|
0.00005
|
NM_000214.3(JAG1):c.2927C>T (p.Thr976Met)
|
rs751809412
|
0.00005
|
NM_000214.3(JAG1):c.2928G>A (p.Thr976=)
|
rs764341568
|
0.00005
|
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln)
|
rs376089631
|
0.00005
|
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu)
|
rs775363555
|
0.00005
|
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=)
|
rs201572666
|
0.00005
|
NM_000214.3(JAG1):c.521C>T (p.Thr174Met)
|
rs144999773
|
0.00005
|
NM_000214.3(JAG1):c.*1493A>G
|
rs78471165
|
0.00004
|
NM_000214.3(JAG1):c.*970T>C
|
rs886056510
|
0.00004
|
NM_000214.3(JAG1):c.1182C>T (p.Asn394=)
|
rs372951958
|
0.00004
|
NM_000214.3(JAG1):c.1349-20A>G
|
rs758784471
|
0.00004
|
NM_000214.3(JAG1):c.1349-7T>A
|
rs554200350
|
0.00004
|
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val)
|
rs149366993
|
0.00004
|
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)
|
rs527236046
|
0.00004
|
NM_000214.3(JAG1):c.1609G>A (p.Gly537Ser)
|
rs756787187
|
0.00004
|
NM_000214.3(JAG1):c.1756G>A (p.Asp586Asn)
|
rs762348061
|
0.00004
|
NM_000214.3(JAG1):c.1865C>T (p.Thr622Met)
|
rs764089304
|
0.00004
|
NM_000214.3(JAG1):c.1886-8T>G
|
rs762958920
|
0.00004
|
NM_000214.3(JAG1):c.2139G>A (p.Thr713=)
|
rs374177670
|
0.00004
|
NM_000214.3(JAG1):c.2304C>T (p.Cys768=)
|
rs755427292
|
0.00004
|
NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg)
|
rs149949294
|
0.00004
|
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val)
|
rs142742183
|
0.00004
|
NM_000214.3(JAG1):c.2682+19C>T
|
rs768434108
|
0.00004
|
NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr)
|
rs372904306
|
0.00004
|
NM_000214.3(JAG1):c.27G>C (p.Arg9=)
|
rs766143399
|
0.00004
|
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser)
|
rs760332763
|
0.00004
|
NM_000214.3(JAG1):c.2829G>A (p.Pro943=)
|
rs546984480
|
0.00004
|
NM_000214.3(JAG1):c.3168A>C (p.Arg1056Ser)
|
rs146006022
|
0.00004
|
NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met)
|
rs373260040
|
0.00004
|
NM_000214.3(JAG1):c.3560A>G (p.Asn1187Ser)
|
rs755420729
|
0.00004
|
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=)
|
rs542831744
|
0.00004
|
NM_000214.3(JAG1):c.400T>C (p.Leu134=)
|
rs140511204
|
0.00004
|
NM_000214.3(JAG1):c.439+9C>T
|
rs374350782
|
0.00004
|
NM_000214.3(JAG1):c.522G>A (p.Thr174=)
|
rs751230029
|
0.00004
|
NM_000214.3(JAG1):c.*9G>A
|
rs372620326
|
0.00003
|
NM_000214.3(JAG1):c.1006+7G>T
|
rs762379208
|
0.00003
|
NM_000214.3(JAG1):c.105C>T (p.Phe35=)
|
rs765442930
|
0.00003
|
NM_000214.3(JAG1):c.1365T>G (p.Leu455=)
|
rs376346902
|
0.00003
|
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu)
|
rs770377023
|
0.00003
|
NM_000214.3(JAG1):c.1797T>C (p.Cys599=)
|
rs746760284
|
0.00003
|
NM_000214.3(JAG1):c.2114-18T>C
|
rs766999933
|
0.00003
|
NM_000214.3(JAG1):c.2250C>T (p.Pro750=)
|
rs368675736
|
0.00003
|
NM_000214.3(JAG1):c.2307C>T (p.Val769=)
|
rs1009422076
|
0.00003
|
NM_000214.3(JAG1):c.2550C>T (p.His850=)
|
rs777696420
|
0.00003
|
NM_000214.3(JAG1):c.2980G>A (p.Ala994Thr)
|
rs750273506
|
0.00003
|
NM_000214.3(JAG1):c.3038A>T (p.His1013Leu)
|
rs758687380
|
0.00003
|
NM_000214.3(JAG1):c.3039T>C (p.His1013=)
|
rs770077297
|
0.00003
|
NM_000214.3(JAG1):c.3141G>A (p.Ser1047=)
|
rs202075581
|
0.00003
|
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp)
|
rs768554175
|
0.00003
|
NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr)
|
rs769242977
|
0.00003
|
NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn)
|
rs755047447
|
0.00003
|
NM_000214.3(JAG1):c.3525G>A (p.Ala1175=)
|
rs745431482
|
0.00003
|
NM_000214.3(JAG1):c.3561C>T (p.Asn1187=)
|
rs754010868
|
0.00003
|
NM_000214.3(JAG1):c.48C>A (p.Leu16=)
|
rs901489977
|
0.00003
|
NM_000214.3(JAG1):c.494G>A (p.Arg165Gln)
|
rs779793192
|
0.00003
|
NM_000214.3(JAG1):c.819C>T (p.His273=)
|
rs368502056
|
0.00003
|
NM_000214.3(JAG1):c.82-20C>T
|
rs535703725
|
0.00003
|
NM_000214.3(JAG1):c.1102G>A (p.Gly368Ser)
|
rs372558458
|
0.00002
|
NM_000214.3(JAG1):c.1224G>A (p.Thr408=)
|
rs771839716
|
0.00002
|
NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn)
|
rs758876727
|
0.00002
|
NM_000214.3(JAG1):c.1321G>A (p.Gly441Ser)
|
rs1327002160
|
0.00002
|
NM_000214.3(JAG1):c.1329G>A (p.Met443Ile)
|
rs547676061
|
0.00002
|
NM_000214.3(JAG1):c.1396-17C>T
|
rs188166112
|
0.00002
|
NM_000214.3(JAG1):c.1443C>T (p.Gly481=)
|
rs879921003
|
0.00002
|
NM_000214.3(JAG1):c.1707G>A (p.Thr569=)
|
rs745608068
|
0.00002
|
NM_000214.3(JAG1):c.1720+5C>T
|
rs757230587
|
0.00002
|
NM_000214.3(JAG1):c.1829G>A (p.Gly610Glu)
|
rs1162038163
|
0.00002
|
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg)
|
rs750855317
|
0.00002
|
NM_000214.3(JAG1):c.1885+18G>A
|
rs774286742
|
0.00002
|
NM_000214.3(JAG1):c.2042C>T (p.Thr681Met)
|
rs772675011
|
0.00002
|
NM_000214.3(JAG1):c.2049C>T (p.Arg683=)
|
rs1389234825
|
0.00002
|
NM_000214.3(JAG1):c.2087G>A (p.Gly696Glu)
|
rs780243244
|
0.00002
|
NM_000214.3(JAG1):c.2113C>T (p.Arg705Cys)
|
rs1436816052
|
0.00002
|
NM_000214.3(JAG1):c.2199C>T (p.Gly733=)
|
rs756062969
|
0.00002
|
NM_000214.3(JAG1):c.2200G>A (p.Gly734Ser)
|
rs199561320
|
0.00002
|
NM_000214.3(JAG1):c.2227+5C>G
|
rs371127863
|
0.00002
|
NM_000214.3(JAG1):c.2227+9A>G
|
rs763616526
|
0.00002
|
NM_000214.3(JAG1):c.2372+13T>A
|
rs768213112
|
0.00002
|
NM_000214.3(JAG1):c.2498C>T (p.Ala833Val)
|
rs141292792
|
0.00002
|
NM_000214.3(JAG1):c.2499G>A (p.Ala833=)
|
rs201954371
|
0.00002
|
NM_000214.3(JAG1):c.2535C>G (p.Val845=)
|
rs1303093637
|
0.00002
|
NM_000214.3(JAG1):c.2552G>A (p.Ser851Asn)
|
rs1211288472
|
0.00002
|
NM_000214.3(JAG1):c.2724C>T (p.His908=)
|
rs765884543
|
0.00002
|
NM_000214.3(JAG1):c.2727C>T (p.Ser909=)
|
rs561945870
|
0.00002
|
NM_000214.3(JAG1):c.2739C>T (p.Ser913=)
|
rs766479402
|
0.00002
|
NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile)
|
rs368032094
|
0.00002
|
NM_000214.3(JAG1):c.282C>T (p.Phe94=)
|
rs772592163
|
0.00002
|
NM_000214.3(JAG1):c.2853C>T (p.Asp951=)
|
rs770380587
|
0.00002
|
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro)
|
rs750570683
|
0.00002
|
NM_000214.3(JAG1):c.2997C>T (p.Tyr999=)
|
rs375622900
|
0.00002
|
NM_000214.3(JAG1):c.3001G>A (p.Ala1001Thr)
|
rs200593413
|
0.00002
|
NM_000214.3(JAG1):c.3048+18T>C
|
rs767609390
|
0.00002
|
NM_000214.3(JAG1):c.3199+13T>C
|
rs762372882
|
0.00002
|
NM_000214.3(JAG1):c.3200-12C>T
|
rs754439203
|
0.00002
|
NM_000214.3(JAG1):c.327C>T (p.Leu109=)
|
rs751316740
|
0.00002
|
NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile)
|
rs781429347
|
0.00002
|
NM_000214.3(JAG1):c.3381G>A (p.Glu1127=)
|
rs982989455
|
0.00002
|
NM_000214.3(JAG1):c.3477C>T (p.Asp1159=)
|
rs765431052
|
0.00002
|
NM_000214.3(JAG1):c.34C>T (p.Arg12Cys)
|
rs1452242699
|
0.00002
|
NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr)
|
rs769685858
|
0.00002
|
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys)
|
rs758788135
|
0.00002
|
NM_000214.3(JAG1):c.388-4G>C
|
rs567027490
|
0.00002
|
NM_000214.3(JAG1):c.489C>T (p.Pro163=)
|
rs376298235
|
0.00002
|
NM_000214.3(JAG1):c.694+17G>A
|
rs1342386550
|
0.00002
|
NM_000214.3(JAG1):c.975T>G (p.Pro325=)
|
rs1179713453
|
0.00002
|
NM_000214.2(JAG1):c.-482G>A
|
rs886056520
|
0.00001
|
NM_000214.2(JAG1):c.-507G>A
|
rs747888489
|
0.00001
|
NM_000214.3(JAG1):c.*1224G>A
|
rs886056506
|
0.00001
|
NM_000214.3(JAG1):c.*1612G>A
|
rs998342074
|
0.00001
|
NM_000214.3(JAG1):c.*18C>T
|
rs1160652210
|
0.00001
|
NM_000214.3(JAG1):c.*21C>T
|
rs554327524
|
0.00001
|
NM_000214.3(JAG1):c.*521T>C
|
rs755826715
|
0.00001
|
NM_000214.3(JAG1):c.*7G>A
|
rs879800923
|
0.00001
|
NM_000214.3(JAG1):c.*881C>T
|
rs1191747708
|
0.00001
|
NM_000214.3(JAG1):c.-129C>T
|
rs886056516
|
0.00001
|
NM_000214.3(JAG1):c.1006+10C>G
|
rs1033712862
|
0.00001
|
NM_000214.3(JAG1):c.1057G>C (p.Glu353Gln)
|
rs1600185499
|
0.00001
|
NM_000214.3(JAG1):c.1064C>T (p.Ser355Phe)
|
rs1235681626
|
0.00001
|
NM_000214.3(JAG1):c.1101C>T (p.Thr367=)
|
rs766771784
|
0.00001
|
NM_000214.3(JAG1):c.1110A>G (p.Thr370=)
|
rs538048082
|
0.00001
|
NM_000214.3(JAG1):c.1117A>G (p.Thr373Ala)
|
rs1212026437
|
0.00001
|
NM_000214.3(JAG1):c.1120+11T>C
|
rs768847875
|
0.00001
|
NM_000214.3(JAG1):c.1155C>T (p.His385=)
|
rs531019589
|
0.00001
|
NM_000214.3(JAG1):c.11C>T (p.Pro4Leu)
|
rs1568807505
|
0.00001
|
NM_000214.3(JAG1):c.1214C>G (p.Thr405Ser)
|
rs1237367300
|
0.00001
|
NM_000214.3(JAG1):c.1223C>T (p.Thr408Met)
|
rs773039210
|
0.00001
|
NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr)
|
rs755648887
|
0.00001
|
NM_000214.3(JAG1):c.1272C>T (p.Ala424=)
|
rs372686313
|
0.00001
|
NM_000214.3(JAG1):c.1308C>T (p.Cys436=)
|
rs764485729
|
0.00001
|
NM_000214.3(JAG1):c.1346T>A (p.Ile449Lys)
|
rs1465136716
|
0.00001
|
NM_000214.3(JAG1):c.1349-19T>G
|
rs766274191
|
0.00001
|
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)
|
rs534533867
|
0.00001
|
NM_000214.3(JAG1):c.1377G>C (p.Gln459His)
|
rs762746994
|
0.00001
|
NM_000214.3(JAG1):c.1384G>A (p.Ala462Thr)
|
rs201667840
|
0.00001
|
NM_000214.3(JAG1):c.1394G>A (p.Arg465Gln)
|
rs558315798
|
0.00001
|
NM_000214.3(JAG1):c.1415G>A (p.Arg472His)
|
rs574349599
|
0.00001
|
NM_000214.3(JAG1):c.1442G>A (p.Gly481Asp)
|
rs753841056
|
0.00001
|
NM_000214.3(JAG1):c.1444G>A (p.Asp482Asn)
|
rs766370717
|
0.00001
|
NM_000214.3(JAG1):c.1475C>T (p.Ala492Val)
|
rs200250528
|
0.00001
|
NM_000214.3(JAG1):c.1536G>A (p.Leu512=)
|
rs375773178
|
0.00001
|
NM_000214.3(JAG1):c.1575C>T (p.Asp525=)
|
rs1555828589
|
0.00001
|
NM_000214.3(JAG1):c.1625A>G (p.Asn542Ser)
|
rs1221893646
|
0.00001
|
NM_000214.3(JAG1):c.1627C>T (p.Arg543Cys)
|
rs375017114
|
0.00001
|
NM_000214.3(JAG1):c.1635T>C (p.Ser545=)
|
rs730152
|
0.00001
|
NM_000214.3(JAG1):c.1659G>T (p.Glu553Asp)
|
rs1337206941
|
0.00001
|
NM_000214.3(JAG1):c.1668G>A (p.Glu556=)
|
rs771304287
|
0.00001
|
NM_000214.3(JAG1):c.1680C>T (p.Cys560=)
|
rs886041868
|
0.00001
|
NM_000214.3(JAG1):c.1702C>T (p.Arg568Cys)
|
rs748384232
|
0.00001
|
NM_000214.3(JAG1):c.1704C>T (p.Arg568=)
|
rs144985667
|
0.00001
|
NM_000214.3(JAG1):c.1710C>T (p.Thr570=)
|
rs781005644
|
0.00001
|
NM_000214.3(JAG1):c.1721-15A>G
|
rs753524030
|
0.00001
|
NM_000214.3(JAG1):c.1775G>A (p.Arg592Gln)
|
rs1436726865
|
0.00001
|
NM_000214.3(JAG1):c.1791C>T (p.Asn597=)
|
rs145910804
|
0.00001
|
NM_000214.3(JAG1):c.1792G>A (p.Val598Ile)
|
rs770729371
|
0.00001
|
NM_000214.3(JAG1):c.1794C>T (p.Val598=)
|
rs200580391
|
0.00001
|
NM_000214.3(JAG1):c.1859G>C (p.Gly620Ala)
|
rs752105789
|
0.00001
|
NM_000214.3(JAG1):c.1866G>A (p.Thr622=)
|
rs140624746
|
0.00001
|
NM_000214.3(JAG1):c.1875C>T (p.Tyr625=)
|
rs533849006
|
0.00001
|
NM_000214.3(JAG1):c.1885+10C>A
|
rs765405349
|
0.00001
|
NM_000214.3(JAG1):c.1885+11C>A
|
rs1050896171
|
0.00001
|
NM_000214.3(JAG1):c.1885+13C>T
|
rs773039520
|
0.00001
|
NM_000214.3(JAG1):c.1971C>T (p.Asp657=)
|
rs368661822
|
0.00001
|
NM_000214.3(JAG1):c.2000-14C>G
|
rs777011001
|
0.00001
|
NM_000214.3(JAG1):c.203G>C (p.Arg68Pro)
|
rs892275570
|
0.00001
|
NM_000214.3(JAG1):c.2048G>A (p.Arg683His)
|
rs200929472
|
0.00001
|
NM_000214.3(JAG1):c.2113+1G>A
|
rs1294950721
|
0.00001
|
NM_000214.3(JAG1):c.2114G>A (p.Arg705His)
|
rs1320720578
|
0.00001
|
NM_000214.3(JAG1):c.2124G>A (p.Gln708=)
|
rs1366697758
|
0.00001
|
NM_000214.3(JAG1):c.2147A>G (p.Asn716Ser)
|
rs765705984
|
0.00001
|
NM_000214.3(JAG1):c.2148C>T (p.Asn716=)
|
rs550565756
|
0.00001
|
NM_000214.3(JAG1):c.2227+38G>A
|
rs766582194
|
0.00001
|
NM_000214.3(JAG1):c.2227+7T>A
|
rs997193086
|
0.00001
|
NM_000214.3(JAG1):c.2234A>C (p.Asn745Thr)
|
rs1314917198
|
0.00001
|
NM_000214.3(JAG1):c.2252A>G (p.Asn751Ser)
|
rs761942250
|
0.00001
|
NM_000214.3(JAG1):c.2305G>A (p.Val769Ile)
|
rs754301929
|
0.00001
|
NM_000214.3(JAG1):c.2333T>C (p.Ile778Thr)
|
rs767504037
|
0.00001
|
NM_000214.3(JAG1):c.2342A>G (p.Gln781Arg)
|
rs2067296582
|
0.00001
|
NM_000214.3(JAG1):c.2345-10T>G
|
rs752854231
|
0.00001
|
NM_000214.3(JAG1):c.2360G>A (p.Ser787Asn)
|
rs761640153
|
0.00001
|
NM_000214.3(JAG1):c.2373-7T>C
|
rs566557171
|
0.00001
|
NM_000214.3(JAG1):c.2379C>A (p.Asn793Lys)
|
rs1418864237
|
0.00001
|
NM_000214.3(JAG1):c.2383G>A (p.Gly795Ser)
|
rs987799112
|
0.00001
|
NM_000214.3(JAG1):c.2385C>T (p.Gly795=)
|
rs1352321713
|
0.00001
|
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu)
|
rs1308346607
|
0.00001
|
NM_000214.3(JAG1):c.2413C>T (p.Arg805Trp)
|
rs1458651228
|
0.00001
|
NM_000214.3(JAG1):c.2414G>A (p.Arg805Gln)
|
rs774372899
|
0.00001
|
NM_000214.3(JAG1):c.2419G>A (p.Glu807Lys)
|
rs564566567
|
0.00001
|
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu)
|
rs769531968
|
0.00001
|
NM_000214.3(JAG1):c.2445C>T (p.Pro815=)
|
rs777122869
|
0.00001
|
NM_000214.3(JAG1):c.2451C>T (p.Cys817=)
|
rs747532570
|
0.00001
|
NM_000214.3(JAG1):c.2458+10G>A
|
rs778204780
|
0.00001
|
NM_000214.3(JAG1):c.2458+15C>T
|
rs1303192220
|
0.00001
|
NM_000214.3(JAG1):c.2502C>T (p.Thr834=)
|
rs779052259
|
0.00001
|
NM_000214.3(JAG1):c.2506G>A (p.Val836Met)
|
rs1429547453
|
0.00001
|
NM_000214.3(JAG1):c.2519A>G (p.Asn840Ser)
|
rs1568792705
|
0.00001
|
NM_000214.3(JAG1):c.2528G>A (p.Arg843Gln)
|
rs751448440
|
0.00001
|
NM_000214.3(JAG1):c.2559C>T (p.Ala853=)
|
rs201234393
|
0.00001
|
NM_000214.3(JAG1):c.2572+11C>T
|
rs1445919960
|
0.00001
|
NM_000214.3(JAG1):c.2573-10C>T
|
rs554985367
|
0.00001
|
NM_000214.3(JAG1):c.2573-15G>A
|
rs753341715
|
0.00001
|
NM_000214.3(JAG1):c.2589C>T (p.Cys863=)
|
rs763502541
|
0.00001
|
NM_000214.3(JAG1):c.2609T>C (p.Ile870Thr)
|
rs1386302689
|
0.00001
|
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly)
|
rs111706668
|
0.00001
|
NM_000214.3(JAG1):c.261G>A (p.Thr87=)
|
rs1393648293
|
0.00001
|
NM_000214.3(JAG1):c.264C>T (p.Ala88=)
|
rs1473297367
|
0.00001
|
NM_000214.3(JAG1):c.2670C>T (p.Ile890=)
|
rs776821383
|
0.00001
|
NM_000214.3(JAG1):c.2671G>A (p.Ala891Thr)
|
rs1454234098
|
0.00001
|
NM_000214.3(JAG1):c.2682+20G>A
|
rs764559590
|
0.00001
|
NM_000214.3(JAG1):c.2682+7C>G
|
rs760941485
|
0.00001
|
NM_000214.3(JAG1):c.2687G>T (p.Trp896Leu)
|
rs1227203387
|
0.00001
|
NM_000214.3(JAG1):c.2707C>T (p.Leu903=)
|
rs778011716
|
0.00001
|
NM_000214.3(JAG1):c.2723A>G (p.His908Arg)
|
rs150243935
|
0.00001
|
NM_000214.3(JAG1):c.2728G>A (p.Glu910Lys)
|
rs368734792
|
0.00001
|
NM_000214.3(JAG1):c.2740G>A (p.Gly914Arg)
|
rs376630327
|
0.00001
|
NM_000214.3(JAG1):c.2762T>C (p.Leu921Pro)
|
rs1305578649
|
0.00001
|
NM_000214.3(JAG1):c.2767G>A (p.Asp923Asn)
|
rs775240101
|
0.00001
|
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile)
|
rs770415804
|
0.00001
|
NM_000214.3(JAG1):c.2817C>T (p.Ser939=)
|
rs1180418350
|
0.00001
|
NM_000214.3(JAG1):c.2859T>C (p.Tyr953=)
|
rs1388481192
|
0.00001
|
NM_000214.3(JAG1):c.2876C>T (p.Ala959Val)
|
rs747802983
|
0.00001
|
NM_000214.3(JAG1):c.2916+12C>T
|
rs1232264115
|
0.00001
|
NM_000214.3(JAG1):c.2917-8C>T
|
rs863223659
|
0.00001
|
NM_000214.3(JAG1):c.2931G>A (p.Glu977=)
|
rs1379142756
|
0.00001
|
NM_000214.3(JAG1):c.2994C>T (p.Ile998=)
|
rs1448335630
|
0.00001
|
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val)
|
rs773974344
|
0.00001
|
NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu)
|
rs747142039
|
0.00001
|
NM_000214.3(JAG1):c.303C>T (p.Val101=)
|
rs1212837838
|
0.00001
|
NM_000214.3(JAG1):c.3048+20A>G
|
rs924322585
|
0.00001
|
NM_000214.3(JAG1):c.3064C>T (p.Arg1022Trp)
|
rs1057516205
|
0.00001
|
NM_000214.3(JAG1):c.306C>T (p.Ile102=)
|
rs1351840404
|
0.00001
|
NM_000214.3(JAG1):c.3081G>A (p.Pro1027=)
|
rs766664730
|
0.00001
|
NM_000214.3(JAG1):c.3083T>G (p.Ile1028Ser)
|
rs761187116
|
0.00001
|
NM_000214.3(JAG1):c.3098A>G (p.Asp1033Gly)
|
rs748220102
|
0.00001
|
NM_000214.3(JAG1):c.3108C>T (p.Ile1036=)
|
rs149715403
|
0.00001
|
NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn)
|
rs768823146
|
0.00001
|
NM_000214.3(JAG1):c.3159A>G (p.Ala1053=)
|
rs1375329942
|
0.00001
|
NM_000214.3(JAG1):c.3179G>A (p.Arg1060Gln)
|
rs773538545
|
0.00001
|
NM_000214.3(JAG1):c.3199+20A>C
|
rs199853723
|
0.00001
|
NM_000214.3(JAG1):c.3200-9G>A
|
rs1274886609
|
0.00001
|
NM_000214.3(JAG1):c.3227T>C (p.Val1076Ala)
|
rs750849877
|
0.00001
|
NM_000214.3(JAG1):c.3237G>C (p.Val1079=)
|
rs752052700
|
0.00001
|
NM_000214.3(JAG1):c.3286C>T (p.Arg1096Trp)
|
rs537986153
|
0.00001
|
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln)
|
rs2067258057
|
0.00001
|
NM_000214.3(JAG1):c.3290G>A (p.Arg1097Gln)
|
rs1462490364
|
0.00001
|
NM_000214.3(JAG1):c.3291G>C (p.Arg1097=)
|
rs1600177787
|
0.00001
|
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=)
|
rs748849177
|
0.00001
|
NM_000214.3(JAG1):c.3307A>G (p.Thr1103Ala)
|
rs750032058
|
0.00001
|
NM_000214.3(JAG1):c.3309A>G (p.Thr1103=)
|
rs1259778353
|
0.00001
|
NM_000214.3(JAG1):c.3311A>T (p.His1104Leu)
|
rs1788979891
|
0.00001
|
NM_000214.3(JAG1):c.3320C>T (p.Ser1107Phe)
|
rs142294152
|
0.00001
|
NM_000214.3(JAG1):c.3342C>T (p.Asn1114=)
|
rs759853433
|
0.00001
|
NM_000214.3(JAG1):c.3347G>A (p.Arg1116Gln)
|
rs908755268
|
0.00001
|
NM_000214.3(JAG1):c.3385C>A (p.His1129Asn)
|
rs768642155
|
0.00001
|
NM_000214.3(JAG1):c.3452C>A (p.Thr1151Lys)
|
rs1362853052
|
0.00001
|
NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln)
|
rs1268561604
|
0.00001
|
NM_000214.3(JAG1):c.3515A>G (p.Lys1172Arg)
|
rs762897904
|
0.00001
|
NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val)
|
rs918046091
|
0.00001
|
NM_000214.3(JAG1):c.3530C>T (p.Thr1177Met)
|
rs533237399
|
0.00001
|
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser)
|
rs1051571820
|
0.00001
|
NM_000214.3(JAG1):c.3563G>C (p.Gly1188Ala)
|
rs766368457
|
0.00001
|
NM_000214.3(JAG1):c.3566C>T (p.Thr1189Met)
|
rs997363236
|
0.00001
|
NM_000214.3(JAG1):c.3573A>C (p.Thr1191=)
|
rs762774678
|
0.00001
|
NM_000214.3(JAG1):c.3591A>C (p.Thr1197=)
|
rs531698711
|
0.00001
|
NM_000214.3(JAG1):c.387G>A (p.Pro129=)
|
rs766008628
|
0.00001
|
NM_000214.3(JAG1):c.389G>A (p.Arg130Lys)
|
rs1409103181
|
0.00001
|
NM_000214.3(JAG1):c.390G>A (p.Arg130=)
|
rs1417166073
|
0.00001
|
NM_000214.3(JAG1):c.418G>A (p.Asp140Asn)
|
rs1456733889
|
0.00001
|
NM_000214.3(JAG1):c.448A>G (p.Ser150Gly)
|
rs1229047867
|
0.00001
|
NM_000214.3(JAG1):c.474G>A (p.Ser158=)
|
rs555794483
|
0.00001
|
NM_000214.3(JAG1):c.4C>G (p.Arg2Gly)
|
rs984916696
|
0.00001
|
NM_000214.3(JAG1):c.525C>T (p.Gly175=)
|
rs764607776
|
0.00001
|
NM_000214.3(JAG1):c.573C>T (p.Tyr191=)
|
rs766426780
|
0.00001
|
NM_000214.3(JAG1):c.681C>T (p.Pro227=)
|
rs748982554
|
0.00001
|
NM_000214.3(JAG1):c.694+1G>T
|
rs876660979
|
0.00001
|
NM_000214.3(JAG1):c.694+3A>G
|
rs769581869
|
0.00001
|
NM_000214.3(JAG1):c.702C>T (p.Cys234=)
|
rs202109974
|
0.00001
|
NM_000214.3(JAG1):c.722A>G (p.Lys241Arg)
|
rs1405610551
|
0.00001
|
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln)
|
rs1265642949
|
0.00001
|
NM_000214.3(JAG1):c.755+15C>T
|
rs761987251
|
0.00001
|
NM_000214.3(JAG1):c.755+7del
|
rs2067379445
|
0.00001
|
NM_000214.3(JAG1):c.81+9C>T
|
rs1235592073
|
0.00001
|
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser)
|
rs768317581
|
0.00001
|
NM_000214.3(JAG1):c.867C>T (p.Gly289=)
|
rs144935832
|
0.00001
|
NM_000214.3(JAG1):c.868G>A (p.Gly290Ser)
|
rs1412480153
|
0.00001
|
NM_000214.3(JAG1):c.915G>A (p.Pro305=)
|
rs371165309
|
0.00001
|
NM_000214.3(JAG1):c.931A>G (p.Thr311Ala)
|
rs373848497
|
0.00001
|
NM_000214.3(JAG1):c.978G>A (p.Glu326=)
|
rs1480738447
|
0.00001
|
NM_000214.3(JAG1):c.993C>T (p.Pro331=)
|
rs1294629128
|
0.00001
|
NM_000214.3(JAG1):c.994A>G (p.Asn332Asp)
|
rs562158374
|
0.00001
|
GRCh37/hg19 20p12.2(chr20:10639152-10639516)x1
|
|
|
JAG1, 1329, T-G, +2
|
|
|
NC_000020.10:g.(?_10653329)_(10654278_?)del
|
|
|
NC_000020.11:g.10641783dup
|
rs2122597170
|
|
NC_000020.11:g.10674180C>T
|
rs140761913
|
|
NM_000214.2(JAG1):c.-483C>T
|
rs867504722
|
|
NM_000214.2(JAG1):c.358dup (p.Ile120Asnfs)
|
rs1555830922
|
|
NM_000214.2:c.(755+1_756-1)_(1120+1_1121-1)del
|
|
|
NM_000214.3(JAG1):c.*1093_*1097del
|
rs886056509
|
|
NM_000214.3(JAG1):c.*1133_*1136del
|
rs886056508
|
|
NM_000214.3(JAG1):c.*1206del
|
rs34134142
|
|
NM_000214.3(JAG1):c.*1212_*1214del
|
rs886056507
|
|
NM_000214.3(JAG1):c.*1440A>G
|
rs2067244785
|
|
NM_000214.3(JAG1):c.*1511dup
|
rs571057258
|
|
NM_000214.3(JAG1):c.*1531TG[1]
|
rs765273169
|
|
NM_000214.3(JAG1):c.*2A>G
|
rs879254256
|
|
NM_000214.3(JAG1):c.*378T>G
|
rs886056512
|
|
NM_000214.3(JAG1):c.*398T>C
|
rs562655817
|
|
NM_000214.3(JAG1):c.*401C>T
|
rs886056511
|
|
NM_000214.3(JAG1):c.*486del
|
rs3842434
|
|
NM_000214.3(JAG1):c.*563_*565del
|
rs139536676
|
|
NM_000214.3(JAG1):c.*587T>C
|
rs2067250788
|
|
NM_000214.3(JAG1):c.*644AAT[1]
|
rs572952606
|
|
NM_000214.3(JAG1):c.*856dup
|
rs3840074
|
|
NM_000214.3(JAG1):c.*8C>T
|
|
|
NM_000214.3(JAG1):c.*959GTTT[2]
|
rs748163677
|
|
NM_000214.3(JAG1):c.-105C>G
|
rs886056515
|
|
NM_000214.3(JAG1):c.-185G>C
|
rs1398348355
|
|
NM_000214.3(JAG1):c.-27C>G
|
rs886056513
|
|
NM_000214.3(JAG1):c.-299AAG[1]
|
rs147400796
|
|
NM_000214.3(JAG1):c.-364T>G
|
rs886056517
|
|
NM_000214.3(JAG1):c.-375dup
|
rs201660680
|
|
NM_000214.3(JAG1):c.-386dup
|
rs886056519
|
|
NM_000214.3(JAG1):c.-458C>T
|
rs146416672
|
|
NM_000214.3(JAG1):c.-465G>T
|
rs943315478
|
|
NM_000214.3(JAG1):c.-528C>A
|
rs191409481
|
|
NM_000214.3(JAG1):c.-6G>T
|
rs2067513848
|
|
NM_000214.3(JAG1):c.-6_24del (p.Met1_Gly8del)
|
rs863223661
|
|
NM_000214.3(JAG1):c.-73G>C
|
rs886056514
|
|
NM_000214.3(JAG1):c.-75A>G
|
rs1208905634
|
|
NM_000214.3(JAG1):c.-75_-61dup
|
rs1555831023
|
|
NM_000214.3(JAG1):c.1000G>A (p.Glu334Lys)
|
|
|
NM_000214.3(JAG1):c.1006+16T>A
|
|
|
NM_000214.3(JAG1):c.1006+7G>C
|
rs762379208
|
|
NM_000214.3(JAG1):c.1007-12del
|
|
|
NM_000214.3(JAG1):c.1007-2A>G
|
rs2122613705
|
|
NM_000214.3(JAG1):c.100C>T (p.Gln34Ter)
|
rs1555830976
|
|
NM_000214.3(JAG1):c.1013A>G (p.His338Arg)
|
rs2067347480
|
|
NM_000214.3(JAG1):c.1013del (p.His338fs)
|
rs2067347502
|
|
NM_000214.3(JAG1):c.1014C>T (p.His338=)
|
rs199971175
|
|
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro)
|
rs1555830973
|
|
NM_000214.3(JAG1):c.1022T>C (p.Leu341Pro)
|
|
|
NM_000214.3(JAG1):c.1023C>T (p.Leu341=)
|
rs1297627471
|
|
NM_000214.3(JAG1):c.1025C>G (p.Ser342Cys)
|
|
|
NM_000214.3(JAG1):c.1025_1026del (p.Leu341_Ser342insTer)
|
rs2067347395
|
|
NM_000214.3(JAG1):c.1036C>T (p.His346Tyr)
|
rs2067347304
|
|
NM_000214.3(JAG1):c.1037_1056dup (p.Glu353fs)
|
rs886043451
|
|
NM_000214.3(JAG1):c.1047C>A (p.Gly349=)
|
|
|
NM_000214.3(JAG1):c.1047dup (p.Ser350fs)
|
rs863223670
|
|
NM_000214.3(JAG1):c.1052del (p.Cys351fs)
|
|
|
NM_000214.3(JAG1):c.1056G>C (p.Lys352Asn)
|
|
|
NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter)
|
rs1600185499
|
|
NM_000214.3(JAG1):c.1059G>C (p.Glu353Asp)
|
|
|
NM_000214.3(JAG1):c.1064C>A (p.Ser355Tyr)
|
|
|
NM_000214.3(JAG1):c.1066C>A (p.Leu356Met)
|
rs2122613611
|
|
NM_000214.3(JAG1):c.106G>A (p.Glu36Lys)
|
|
|
NM_000214.3(JAG1):c.1079G>T (p.Cys360Phe)
|
|
|
NM_000214.3(JAG1):c.107del (p.Glu36fs)
|
|
|
NM_000214.3(JAG1):c.1082_1083del (p.Glu361fs)
|
rs876661111
|
|
NM_000214.3(JAG1):c.1083G>T (p.Glu361Asp)
|
|
|
NM_000214.3(JAG1):c.1084delinsGGCTTTGA (p.Cys362fs)
|
rs2067346904
|
|
NM_000214.3(JAG1):c.1092A>G (p.Pro364=)
|
|
|
NM_000214.3(JAG1):c.10C>T (p.Pro4Ser)
|
|
|
NM_000214.3(JAG1):c.1101dup (p.Gly368fs)
|
rs2122613554
|
|
NM_000214.3(JAG1):c.110T>C (p.Leu37Ser)
|
rs121918352
|
|
NM_000214.3(JAG1):c.1119A>G (p.Thr373=)
|
|
|
NM_000214.3(JAG1):c.111G>A (p.Leu37=)
|
|
|
NM_000214.3(JAG1):c.1120+18C>T
|
|
|
NM_000214.3(JAG1):c.1121-14T>C
|
|
|
NM_000214.3(JAG1):c.1121-14_1121-10del
|
rs2122611723
|
|
NM_000214.3(JAG1):c.1121-20C>G
|
|
|
NM_000214.3(JAG1):c.1121_1122insTCCT (p.Ile375fs)
|
rs2067337118
|
|
NM_000214.3(JAG1):c.1123A>G (p.Ile375Val)
|
rs2122611687
|
|
NM_000214.3(JAG1):c.1131C>A (p.Asp377Glu)
|
|
|
NM_000214.3(JAG1):c.1138_1140del (p.Pro380del)
|
|
|
NM_000214.3(JAG1):c.1139del (p.Pro380fs)
|
rs2122611660
|
|
NM_000214.3(JAG1):c.1153C>T (p.His385Tyr)
|
|
|
NM_000214.3(JAG1):c.1155C>A (p.His385Gln)
|
rs531019589
|
|
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg)
|
rs863223650
|
|
NM_000214.3(JAG1):c.1160G>A (p.Gly387Asp)
|
|
|
NM_000214.3(JAG1):c.116T>A (p.Ile39Asn)
|
rs2067508041
|
|
NM_000214.3(JAG1):c.1177G>C (p.Val393Leu)
|
|
|
NM_000214.3(JAG1):c.117C>A (p.Ile39=)
|
|
|
NM_000214.3(JAG1):c.1181A>G (p.Asn394Ser)
|
|
|
NM_000214.3(JAG1):c.1181dup (p.Asn394fs)
|
|
|
NM_000214.3(JAG1):c.1188dup (p.Lys397Ter)
|
|
|
NM_000214.3(JAG1):c.1189A>T (p.Lys397Ter)
|
|
|
NM_000214.3(JAG1):c.1198_1199dup (p.Pro401fs)
|
rs1555828843
|
|
NM_000214.3(JAG1):c.1202C>T (p.Pro401Leu)
|
|
|
NM_000214.3(JAG1):c.1205C>A (p.Pro402Gln)
|
|
|
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg)
|
rs144204614
|
|
NM_000214.3(JAG1):c.1205del (p.Pro402fs)
|
rs35615084
|
|
NM_000214.3(JAG1):c.1205dup (p.Gln403fs)
|
rs35615084
|
|
NM_000214.3(JAG1):c.1207C>T (p.Gln403Ter)
|
rs794727953
|
|
NM_000214.3(JAG1):c.1209G>A (p.Gln403=)
|
|
|
NM_000214.3(JAG1):c.120G>C (p.Leu40=)
|
rs1000010346
|
|
NM_000214.3(JAG1):c.1211G>A (p.Trp404Ter)
|
|
|
NM_000214.3(JAG1):c.1216G>A (p.Gly406Arg)
|
rs2067336534
|
|
NM_000214.3(JAG1):c.1218_1219insGA (p.Lys407fs)
|
rs886044604
|
|
NM_000214.3(JAG1):c.1224G>T (p.Thr408=)
|
rs771839716
|
|
NM_000214.3(JAG1):c.1228C>T (p.Gln410Ter)
|
rs2122611488
|
|
NM_000214.3(JAG1):c.1230G>A (p.Gln410=)
|
|
|
NM_000214.3(JAG1):c.1232T>A (p.Leu411Ter)
|
rs2067336398
|
|
NM_000214.3(JAG1):c.1234+21_1234+22del
|
rs778949148
|
|
NM_000214.3(JAG1):c.1234+3A>G
|
|
|
NM_000214.3(JAG1):c.1236T>A (p.Asp412Glu)
|
rs1568796947
|
|
NM_000214.3(JAG1):c.1238C>T (p.Ala413Val)
|
|
|
NM_000214.3(JAG1):c.123C>T (p.Ser41=)
|
rs761894056
|
|
NM_000214.3(JAG1):c.123del (p.Met42fs)
|
|
|
NM_000214.3(JAG1):c.1249G>A (p.Glu417Lys)
|
|
|
NM_000214.3(JAG1):c.1251G>A (p.Glu417=)
|
|
|
NM_000214.3(JAG1):c.1254C>T (p.Ala418=)
|
|
|
NM_000214.3(JAG1):c.1258C>A (p.Pro420Thr)
|
|
|
NM_000214.3(JAG1):c.1263T>A (p.Cys421Ter)
|
|
|
NM_000214.3(JAG1):c.1263T>C (p.Cys421=)
|
|
|
NM_000214.3(JAG1):c.1264G>A (p.Val422Ile)
|
|
|
NM_000214.3(JAG1):c.1266A>T (p.Val422=)
|
|
|
NM_000214.3(JAG1):c.1269C>A (p.Asn423Lys)
|
|
|
NM_000214.3(JAG1):c.1269C>T (p.Asn423=)
|
|
|
NM_000214.3(JAG1):c.1274A>G (p.Lys425Arg)
|
|
|
NM_000214.3(JAG1):c.1277C>T (p.Ser426Phe)
|
|
|
NM_000214.3(JAG1):c.1283A>G (p.Lys428Arg)
|
|
|
NM_000214.3(JAG1):c.1290C>T (p.Leu430=)
|
|
|
NM_000214.3(JAG1):c.1295C>G (p.Ala432Gly)
|
|
|
NM_000214.3(JAG1):c.1297A>G (p.Ser433Gly)
|
|
|
NM_000214.3(JAG1):c.1302C>T (p.Tyr434=)
|
|
|
NM_000214.3(JAG1):c.1303_1304dup (p.Cys436fs)
|
|
|
NM_000214.3(JAG1):c.1306T>C (p.Cys436Arg)
|
rs2122610484
|
|
NM_000214.3(JAG1):c.1307G>A (p.Cys436Tyr)
|
rs1568796900
|
|
NM_000214.3(JAG1):c.1308C>A (p.Cys436Ter)
|
rs764485729
|
|
NM_000214.3(JAG1):c.1308_1325del (p.Cys436_Gly441del)
|
rs2067332008
|
|
NM_000214.3(JAG1):c.1309G>C (p.Asp437His)
|
rs758876727
|
|
NM_000214.3(JAG1):c.1312dup (p.Cys438fs)
|
rs2122610459
|
|
NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr)
|
rs1600184363
|
|
NM_000214.3(JAG1):c.1318C>T (p.Pro440Ser)
|
rs1187579730
|
|
NM_000214.3(JAG1):c.1320C>T (p.Pro440=)
|
|
|
NM_000214.3(JAG1):c.1322G>A (p.Gly441Asp)
|
rs2067332021
|
|
NM_000214.3(JAG1):c.1325G>A (p.Trp442Ter)
|
rs1568796883
|
|
NM_000214.3(JAG1):c.1326G>A (p.Trp442Ter)
|
rs794726974
|
|
NM_000214.3(JAG1):c.1326G>T (p.Trp442Cys)
|
rs794726974
|
|
NM_000214.3(JAG1):c.1330G>A (p.Gly444Ser)
|
|
|
NM_000214.3(JAG1):c.1330G>C (p.Gly444Arg)
|
|
|
NM_000214.3(JAG1):c.1338T>C (p.Asn446=)
|
|
|
NM_000214.3(JAG1):c.1339T>C (p.Cys447Arg)
|
rs863223651
|
|
NM_000214.3(JAG1):c.133G>A (p.Val45Met)
|
|
|
NM_000214.3(JAG1):c.1345A>G (p.Ile449Val)
|
rs2122610344
|
|
NM_000214.3(JAG1):c.1346_1347del (p.Ile449fs)
|
rs1555828770
|
|
NM_000214.3(JAG1):c.1349-16C>G
|
rs1057523387
|
|
NM_000214.3(JAG1):c.1349-173_1483del
|
|
|
NM_000214.3(JAG1):c.1349-18G>A
|
|
|
NM_000214.3(JAG1):c.1349-19_1349-17del
|
rs756384545
|
|
NM_000214.3(JAG1):c.1349-59A>C
|
rs184110582
|
|
NM_000214.3(JAG1):c.1349-8dup
|
rs767319365
|
|
NM_000214.3(JAG1):c.1349-9_1349-6del
|
rs764798214
|
|
NM_000214.3(JAG1):c.134_154del (p.Val45_Asn51del)
|
rs1345611817
|
|
NM_000214.3(JAG1):c.1352T>A (p.Ile451Asn)
|
rs1178459436
|
|
NM_000214.3(JAG1):c.1353dup (p.Asn452Ter)
|
rs1060501347
|
|
NM_000214.3(JAG1):c.1357G>A (p.Asp453Asn)
|
|
|
NM_000214.3(JAG1):c.135G>T (p.Val45=)
|
|
|
NM_000214.3(JAG1):c.1362C>A (p.Cys454Ter)
|
|
|
NM_000214.3(JAG1):c.1363del (p.Gly456fs)
|
rs2122609680
|
|
NM_000214.3(JAG1):c.1368C>T (p.Gly456=)
|
|
|
NM_000214.3(JAG1):c.1369C>T (p.Gln457Ter)
|
rs863223652
|
|
NM_000214.3(JAG1):c.1370A>G (p.Gln457Arg)
|
|
|
NM_000214.3(JAG1):c.1372T>C (p.Cys458Arg)
|
|
|
NM_000214.3(JAG1):c.1375C>A (p.Gln459Lys)
|
rs1289016419
|
|
NM_000214.3(JAG1):c.1375C>T (p.Gln459Ter)
|
rs1289016419
|
|
NM_000214.3(JAG1):c.1377_1378del (p.Gln459_Asn460insTer)
|
rs2067328461
|
|
NM_000214.3(JAG1):c.1386C>T (p.Ala462=)
|
|
|
NM_000214.3(JAG1):c.1388C>T (p.Ser463Phe)
|
|
|
NM_000214.3(JAG1):c.1392T>C (p.Cys464=)
|
|
|
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp)
|
rs937263997
|
|
NM_000214.3(JAG1):c.1395+17T>C
|
rs1427080762
|
|
NM_000214.3(JAG1):c.1395+3A>C
|
rs886044220
|
|
NM_000214.3(JAG1):c.1395+3A>G
|
rs886044220
|
|
NM_000214.3(JAG1):c.1395+5_1395+7delinsATG
|
rs1568796544
|
|
NM_000214.3(JAG1):c.1395+81T>G
|
rs2122609482
|
|
NM_000214.3(JAG1):c.1395+8A>T
|
|
|
NM_000214.3(JAG1):c.1395+9del
|
rs756967745
|
|
NM_000214.3(JAG1):c.1396-10C>T
|
rs2122609048
|
|
NM_000214.3(JAG1):c.1396-16C>T
|
rs374325017
|
|
NM_000214.3(JAG1):c.1396-1G>A
|
|
|
NM_000214.3(JAG1):c.1396-27TC[4]
|
rs544547916
|
|
NM_000214.3(JAG1):c.1396-27TC[6]
|
rs544547916
|
|
NM_000214.3(JAG1):c.1396-2A>G
|
rs1568796298
|
|
NM_000214.3(JAG1):c.1396-3T>C
|
|
|
NM_000214.3(JAG1):c.1396-5dup
|
|
|
NM_000214.3(JAG1):c.1396-82C>T
|
rs45498692
|
|
NM_000214.3(JAG1):c.1396-9C>G
|
rs780478823
|
|
NM_000214.3(JAG1):c.1396-9C>T
|
|
|
NM_000214.3(JAG1):c.1396-9_1396-7del
|
rs759287559
|
|
NM_000214.3(JAG1):c.139G>C (p.Gly47Arg)
|
|
|
NM_000214.3(JAG1):c.139_159del (p.Gly47_Asn53del)
|
rs754284753
|
|
NM_000214.3(JAG1):c.1407T>C (p.Asn469=)
|
rs141725884
|
|
NM_000214.3(JAG1):c.1414C>T (p.Arg472Cys)
|
|
|
NM_000214.3(JAG1):c.1424dup (p.Cys475fs)
|
|
|
NM_000214.3(JAG1):c.1426C>A (p.Pro476Thr)
|
|
|
NM_000214.3(JAG1):c.1427C>T (p.Pro476Leu)
|
|
|
NM_000214.3(JAG1):c.142G>A (p.Glu48Lys)
|
|
|
NM_000214.3(JAG1):c.142G>T (p.Glu48Ter)
|
rs1600196580
|
|
NM_000214.3(JAG1):c.1430C>T (p.Pro477Leu)
|
rs1555828655
|
|
NM_000214.3(JAG1):c.1434C>T (p.Gly478=)
|
rs2122608947
|
|
NM_000214.3(JAG1):c.1437T>G (p.Tyr479Ter)
|
|
|
NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser)
|
|
|
NM_000214.3(JAG1):c.1446T>C (p.Asp482=)
|
rs2122608906
|
|
NM_000214.3(JAG1):c.1446_1448delinsC (p.His483fs)
|
rs1568796241
|
|
NM_000214.3(JAG1):c.1448_1449del (p.His483fs)
|
rs2122608890
|
|
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer)
|
rs1568796236
|
|
NM_000214.3(JAG1):c.1459_1460del (p.Asp487fs)
|
|
|
NM_000214.3(JAG1):c.1459_1460insGA (p.Asp487fs)
|
rs1555828652
|
|
NM_000214.3(JAG1):c.1461C>T (p.Asp487=)
|
|
|
NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn)
|
rs370107709
|
|
NM_000214.3(JAG1):c.1470_1472dup (p.Cys491Ter)
|
|
|
NM_000214.3(JAG1):c.1473_1474del (p.Ala492fs)
|
|
|
NM_000214.3(JAG1):c.1482C>T (p.Asn494=)
|
|
|
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs)
|
rs876660981
|
|
NM_000214.3(JAG1):c.1485del (p.Cys496fs)
|
rs2122608799
|
|
NM_000214.3(JAG1):c.1489_1490dup (p.Leu497fs)
|
rs2122608790
|
|
NM_000214.3(JAG1):c.148C>T (p.Gln50Ter)
|
rs886039539
|
|
NM_000214.3(JAG1):c.1492_1495del (p.Asn498fs)
|
rs1555828646
|
|
NM_000214.3(JAG1):c.1499dup (p.His501fs)
|
|
|
NM_000214.3(JAG1):c.1509_1510del (p.Gln503_Asn504insTer)
|
rs886039696
|
|
NM_000214.3(JAG1):c.1517T>G (p.Ile506Ser)
|
|
|
NM_000214.3(JAG1):c.151A>G (p.Asn51Asp)
|
|
|
NM_000214.3(JAG1):c.1521C>G (p.Asn507Lys)
|
rs2067324770
|
|
NM_000214.3(JAG1):c.1522dup (p.Arg508fs)
|
rs1555828640
|
|
NM_000214.3(JAG1):c.1528C>T (p.Gln510Ter)
|
rs1568796158
|
|
NM_000214.3(JAG1):c.1537T>C (p.Cys513Arg)
|
rs1568796126
|
|
NM_000214.3(JAG1):c.153C>T (p.Asn51=)
|
rs2067507683
|
|
NM_000214.3(JAG1):c.1540C>G (p.Pro514Ala)
|
|
|
NM_000214.3(JAG1):c.1551C>T (p.Phe517=)
|
|
|
NM_000214.3(JAG1):c.1556G>C (p.Gly519Ala)
|
rs747241413
|
|
NM_000214.3(JAG1):c.1563_1564del (p.Cys522fs)
|
rs2067324506
|
|
NM_000214.3(JAG1):c.1564T>C (p.Cys522Arg)
|
|
|
NM_000214.3(JAG1):c.1566T>A (p.Cys522Ter)
|
|
|
NM_000214.3(JAG1):c.1569+12C>A
|
|
|
NM_000214.3(JAG1):c.1569+17C>T
|
rs2122608633
|
|
NM_000214.3(JAG1):c.1569+1G>A
|
|
|
NM_000214.3(JAG1):c.1569+68T>G
|
rs34325313
|
|
NM_000214.3(JAG1):c.1570-17G>T
|
|
|
NM_000214.3(JAG1):c.1570-3C>A
|
|
|
NM_000214.3(JAG1):c.1570-73C>G
|
rs56039205
|
|
NM_000214.3(JAG1):c.1570-7T>C
|
|
|
NM_000214.3(JAG1):c.1570C>T (p.Leu524=)
|
rs774864063
|
|
NM_000214.3(JAG1):c.1579G>A (p.Asp527Asn)
|
|
|
NM_000214.3(JAG1):c.1579G>T (p.Asp527Tyr)
|
|
|
NM_000214.3(JAG1):c.1582T>G (p.Tyr528Asp)
|
rs2122607889
|
|
NM_000214.3(JAG1):c.1591C>A (p.Pro531Thr)
|
|
|
NM_000214.3(JAG1):c.1596T>C (p.Asn532=)
|
|
|
NM_000214.3(JAG1):c.1601del (p.Cys534fs)
|
rs2067321711
|
|
NM_000214.3(JAG1):c.1603C>T (p.Gln535Ter)
|
|
|
NM_000214.3(JAG1):c.1606A>C (p.Asn536His)
|
|
|
NM_000214.3(JAG1):c.1608C>G (p.Asn536Lys)
|
|
|
NM_000214.3(JAG1):c.1613C>T (p.Ala538Val)
|
rs2067321488
|
|
NM_000214.3(JAG1):c.1615C>T (p.Gln539Ter)
|
rs1555828577
|
|
NM_000214.3(JAG1):c.1616A>G (p.Gln539Arg)
|
|
|
NM_000214.3(JAG1):c.1627del (p.Arg543fs)
|
|
|
NM_000214.3(JAG1):c.1653C>A (p.Cys551Ter)
|
rs2122607772
|
|
NM_000214.3(JAG1):c.1654C>G (p.Pro552Ala)
|
|
|
NM_000214.3(JAG1):c.1654C>T (p.Pro552Ser)
|
|
|
NM_000214.3(JAG1):c.1656C>T (p.Pro552=)
|
|
|
NM_000214.3(JAG1):c.1656del (p.Glu553fs)
|
rs1568795820
|
|
NM_000214.3(JAG1):c.1657G>A (p.Glu553Lys)
|
|
|
NM_000214.3(JAG1):c.1657G>T (p.Glu553Ter)
|
rs759763539
|
|
NM_000214.3(JAG1):c.1657del (p.Glu553fs)
|
|
|
NM_000214.3(JAG1):c.165C>A (p.Cys55Ter)
|
|
|
NM_000214.3(JAG1):c.165C>T (p.Cys55=)
|
rs746259131
|
|
NM_000214.3(JAG1):c.1664A>G (p.Tyr555Cys)
|
|
|
NM_000214.3(JAG1):c.1666G>T (p.Glu556Ter)
|
rs2122607723
|
|
NM_000214.3(JAG1):c.1680C>A (p.Cys560Ter)
|
rs886041868
|
|
NM_000214.3(JAG1):c.1687del (p.His562_Leu563insTer)
|
rs2122607689
|
|
NM_000214.3(JAG1):c.1689G>A (p.Leu563=)
|
rs930662596
|
|
NM_000214.3(JAG1):c.1693G>A (p.Asp565Asn)
|
|
|
NM_000214.3(JAG1):c.1696C>G (p.His566Asp)
|
rs927278875
|
|
NM_000214.3(JAG1):c.1706C>G (p.Thr569Arg)
|
|
|
NM_000214.3(JAG1):c.1709C>T (p.Thr570Ile)
|
|
|
NM_000214.3(JAG1):c.1712C>A (p.Pro571His)
|
|
|
NM_000214.3(JAG1):c.1713del (p.Cys572fs)
|
|
|
NM_000214.3(JAG1):c.1713dup (p.Cys572fs)
|
rs1555828546
|
|
NM_000214.3(JAG1):c.1714T>C (p.Cys572Arg)
|
|
|
NM_000214.3(JAG1):c.1716_1717del (p.Cys572_Glu573delinsTer)
|
rs876661126
|
|
NM_000214.3(JAG1):c.171C>A (p.Gly57=)
|
|
|
NM_000214.3(JAG1):c.1720+14C>T
|
rs556199100
|
|
NM_000214.3(JAG1):c.1720+15C>G
|
|
|
NM_000214.3(JAG1):c.1720+16dup
|
rs774418829
|
|
NM_000214.3(JAG1):c.1720+172G>T
|
rs143716483
|
|
NM_000214.3(JAG1):c.1720+1G>C
|
rs2122607604
|
|
NM_000214.3(JAG1):c.1720+1del
|
rs886044349
|
|
NM_000214.3(JAG1):c.1720+3A>G
|
rs1555828541
|
|
NM_000214.3(JAG1):c.1720G>C (p.Val574Leu)
|
rs2067320699
|
|
NM_000214.3(JAG1):c.1720G>T (p.Val574Leu)
|
rs2067320699
|
|
NM_000214.3(JAG1):c.1721-17C>T
|
|
|
NM_000214.3(JAG1):c.1721-18C>G
|
rs754636635
|
|
NM_000214.3(JAG1):c.1721-18C>T
|
|
|
NM_000214.3(JAG1):c.1721-19T>C
|
|
|
NM_000214.3(JAG1):c.1721-223TG[2]
|
rs3830831
|
|
NM_000214.3(JAG1):c.1721-2A>T
|
|
|
NM_000214.3(JAG1):c.1724T>C (p.Ile575Thr)
|
rs2067314756
|
|
NM_000214.3(JAG1):c.1728C>T (p.Asp576=)
|
rs756487397
|
|
NM_000214.3(JAG1):c.172dup (p.Ala58fs)
|
|
|
NM_000214.3(JAG1):c.1731C>G (p.Ser577Arg)
|
rs2122606362
|
|
NM_000214.3(JAG1):c.1737A>G (p.Thr579=)
|
|
|
NM_000214.3(JAG1):c.1739T>A (p.Val580Glu)
|
|
|
NM_000214.3(JAG1):c.173_176del (p.Ala58fs)
|
rs886043130
|
|
NM_000214.3(JAG1):c.1744A>G (p.Met582Val)
|
rs2067314648
|
|
NM_000214.3(JAG1):c.1747G>A (p.Ala583Thr)
|
|
|
NM_000214.3(JAG1):c.1748C>T (p.Ala583Val)
|
rs1568795311
|
|
NM_000214.3(JAG1):c.174C>G (p.Ala58=)
|
|
|
NM_000214.3(JAG1):c.174C>T (p.Ala58=)
|
|
|
NM_000214.3(JAG1):c.1754_1755del (p.Asn585fs)
|
|
|
NM_000214.3(JAG1):c.1755C>G (p.Asn585Lys)
|
rs142808131
|
|
NM_000214.3(JAG1):c.175C>T (p.Arg59Trp)
|
|
|
NM_000214.3(JAG1):c.1762C>T (p.Pro588Ser)
|
rs1321273663
|
|
NM_000214.3(JAG1):c.1764T>G (p.Pro588=)
|
|
|
NM_000214.3(JAG1):c.1764dup (p.Glu589Ter)
|
|
|
NM_000214.3(JAG1):c.1779T>A (p.Tyr593Ter)
|
rs2122606277
|
|
NM_000214.3(JAG1):c.1780A>T (p.Ile594Phe)
|
rs897891027
|
|
NM_000214.3(JAG1):c.1782T>C (p.Ile594=)
|
|
|
NM_000214.3(JAG1):c.1785C>T (p.Ser595=)
|
|
|
NM_000214.3(JAG1):c.1794C>G (p.Val598=)
|
rs200580391
|
|
NM_000214.3(JAG1):c.1801C>T (p.Pro601Ser)
|
|
|
NM_000214.3(JAG1):c.1806C>G (p.His602Gln)
|
|
|
NM_000214.3(JAG1):c.1822C>T (p.Gln608Ter)
|
|
|
NM_000214.3(JAG1):c.1823_1826del (p.Gln608fs)
|
rs2122606213
|
|
NM_000214.3(JAG1):c.1827G>C (p.Ser609=)
|
rs779802470
|
|
NM_000214.3(JAG1):c.1827G>T (p.Ser609=)
|
|
|
NM_000214.3(JAG1):c.1829del (p.Gly610fs)
|
rs2122606192
|
|
NM_000214.3(JAG1):c.182C>T (p.Pro61Leu)
|
|
|
NM_000214.3(JAG1):c.1832G>T (p.Gly611Val)
|
rs2122606183
|
|
NM_000214.3(JAG1):c.1839C>T (p.Phe613=)
|
|
|
NM_000214.3(JAG1):c.183G>C (p.Pro61=)
|
|
|
NM_000214.3(JAG1):c.1845T>C (p.Cys615=)
|
|
|
NM_000214.3(JAG1):c.184G>C (p.Gly62Arg)
|
|
|
NM_000214.3(JAG1):c.1856A>G (p.Lys619Arg)
|
rs1009426924
|
|
NM_000214.3(JAG1):c.1856_1857del (p.Lys619fs)
|
rs1600182812
|
|
NM_000214.3(JAG1):c.1859G>T (p.Gly620Val)
|
rs752105789
|
|
NM_000214.3(JAG1):c.1866G>C (p.Thr622=)
|
rs140624746
|
|
NM_000214.3(JAG1):c.1868dup (p.Thr624fs)
|
rs2122606128
|
|
NM_000214.3(JAG1):c.1871delinsGA (p.Thr624fs)
|
|
|
NM_000214.3(JAG1):c.1872A>G (p.Thr624=)
|
|
|
NM_000214.3(JAG1):c.1872A>T (p.Thr624=)
|
|
|
NM_000214.3(JAG1):c.1878C>A (p.Cys626Ter)
|
rs2122606113
|
|
NM_000214.3(JAG1):c.1881T>C (p.His627=)
|
rs2067313363
|
|
NM_000214.3(JAG1):c.1885+9C>G
|
rs2122606086
|
|
NM_000214.3(JAG1):c.1886-18C>T
|
|
|
NM_000214.3(JAG1):c.1886-4A>G
|
|
|
NM_000214.3(JAG1):c.1886-9G>A
|
|
|
NM_000214.3(JAG1):c.1887T>C (p.Asn629=)
|
|
|
NM_000214.3(JAG1):c.1890del (p.Asn631fs)
|
|
|
NM_000214.3(JAG1):c.1896C>T (p.Asp632=)
|
|
|
NM_000214.3(JAG1):c.1898G>A (p.Cys633Tyr)
|
|
|
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer)
|
rs1555828321
|
|
NM_000214.3(JAG1):c.18G>A (p.Thr6=)
|
rs576539291
|
|
NM_000214.3(JAG1):c.18G>C (p.Thr6=)
|
|
|
NM_000214.3(JAG1):c.190C>T (p.Arg64Cys)
|
|
|
NM_000214.3(JAG1):c.190del (p.Arg64fs)
|
|
|
NM_000214.3(JAG1):c.1914T>G (p.Cys638Trp)
|
rs1261301855
|
|
NM_000214.3(JAG1):c.1915A>G (p.Arg639Gly)
|
|
|
NM_000214.3(JAG1):c.1916G>A (p.Arg639Lys)
|
|
|
NM_000214.3(JAG1):c.191_192delinsAG (p.Arg64Gln)
|
rs2122644702
|
|
NM_000214.3(JAG1):c.1921G>A (p.Gly641Ser)
|
|
|
NM_000214.3(JAG1):c.192C>A (p.Arg64=)
|
|
|
NM_000214.3(JAG1):c.192dup (p.Lys65fs)
|
rs863223666
|
|
NM_000214.3(JAG1):c.1936G>A (p.Asp646Asn)
|
|
|
NM_000214.3(JAG1):c.1946A>G (p.Asn649Ser)
|
|
|
NM_000214.3(JAG1):c.1946_1951delinsCTCC (p.Asn649fs)
|
rs863223682
|
|
NM_000214.3(JAG1):c.1948T>C (p.Ser650Pro)
|
rs2122604480
|
|
NM_000214.3(JAG1):c.194A>G (p.Lys65Arg)
|
|
|
NM_000214.3(JAG1):c.1951T>C (p.Tyr651His)
|
|
|
NM_000214.3(JAG1):c.1952A>T (p.Tyr651Phe)
|
rs754081691
|
|
NM_000214.3(JAG1):c.1953C>A (p.Tyr651Ter)
|
|
|
NM_000214.3(JAG1):c.1955dup (p.Cys653fs)
|
rs2122604461
|
|
NM_000214.3(JAG1):c.1961del (p.Ile654fs)
|
|
|
NM_000214.3(JAG1):c.1963T>C (p.Cys655Arg)
|
|
|
NM_000214.3(JAG1):c.1977G>A (p.Trp659Ter)
|
rs1600182107
|
|
NM_000214.3(JAG1):c.197G>A (p.Cys66Tyr)
|
rs767480908
|
|
NM_000214.3(JAG1):c.1984G>C (p.Ala662Pro)
|
rs763048289
|
|
NM_000214.3(JAG1):c.1984del (p.Ala662fs)
|
|
|
NM_000214.3(JAG1):c.1997C>T (p.Thr666Ile)
|
rs2122604394
|
|
NM_000214.3(JAG1):c.1998C>T (p.Thr666=)
|
|
|
NM_000214.3(JAG1):c.1999+17_1999+18del
|
|
|
NM_000214.3(JAG1):c.1999+20G>A
|
|
|
NM_000214.3(JAG1):c.199A>G (p.Thr67Ala)
|
|
|
NM_000214.3(JAG1):c.2000-11T>C
|
rs2122603558
|
|
NM_000214.3(JAG1):c.2000-13C>G
|
rs769050919
|
|
NM_000214.3(JAG1):c.2000-17C>T
|
rs2122603589
|
|
NM_000214.3(JAG1):c.2000-190_2000-188dup
|
rs55752058
|
|
NM_000214.3(JAG1):c.2005A>G (p.Asn669Asp)
|
|
|
NM_000214.3(JAG1):c.2006del (p.Asn669fs)
|
|
|
NM_000214.3(JAG1):c.200C>G (p.Thr67Ser)
|
|
|
NM_000214.3(JAG1):c.2011T>C (p.Cys671Arg)
|
rs1568794367
|
|
NM_000214.3(JAG1):c.2017C>A (p.Gln673Lys)
|
rs1555828252
|
|
NM_000214.3(JAG1):c.2024C>T (p.Pro675Leu)
|
|
|
NM_000214.3(JAG1):c.2026del (p.Cys676fs)
|
|
|
NM_000214.3(JAG1):c.202C>T (p.Arg68Cys)
|
|
|
NM_000214.3(JAG1):c.2030A>C (p.His677Pro)
|
|
|
NM_000214.3(JAG1):c.2039dup (p.Thr681fs)
|
rs1555828250
|
|
NM_000214.3(JAG1):c.203dup (p.Asp69fs)
|
rs1568807044
|
|
NM_000214.3(JAG1):c.2045G>A (p.Cys682Tyr)
|
rs876661229
|
|
NM_000214.3(JAG1):c.2050G>A (p.Asp684Asn)
|
rs933125751
|
|
NM_000214.3(JAG1):c.2051A>G (p.Asp684Gly)
|
|
|
NM_000214.3(JAG1):c.2064C>G (p.Asp688Glu)
|
rs2122603442
|
|
NM_000214.3(JAG1):c.2065T>C (p.Phe689Leu)
|
|
|
NM_000214.3(JAG1):c.2072G>A (p.Cys691Tyr)
|
rs1555828246
|
|
NM_000214.3(JAG1):c.2076C>A (p.Asp692Glu)
|
rs2067301920
|
|
NM_000214.3(JAG1):c.2077T>C (p.Cys693Arg)
|
rs1568794319
|
|
NM_000214.3(JAG1):c.2078G>A (p.Cys693Tyr)
|
rs566563238
|
|
NM_000214.3(JAG1):c.2078G>C (p.Cys693Ser)
|
|
|
NM_000214.3(JAG1):c.2078_2079del (p.Asp692_Cys693insTer)
|
rs2067301859
|
|
NM_000214.3(JAG1):c.2080A>T (p.Lys694Ter)
|
rs876661142
|
|
NM_000214.3(JAG1):c.2085_2101del (p.Gly696fs)
|
|
|
NM_000214.3(JAG1):c.2087G>C (p.Gly696Ala)
|
rs780243244
|
|
NM_000214.3(JAG1):c.2088G>A (p.Gly696=)
|
|
|
NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs)
|
rs1600181733
|
|
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs)
|
rs886039393
|
|
NM_000214.3(JAG1):c.2097A>G (p.Gly699=)
|
|
|
NM_000214.3(JAG1):c.20G>A (p.Arg7His)
|
|
|
NM_000214.3(JAG1):c.2101A>C (p.Thr701Pro)
|
rs79176844
|
|
NM_000214.3(JAG1):c.2106C>A (p.Cys702Ter)
|
rs863223680
|
|
NM_000214.3(JAG1):c.2113+16C>A
|
|
|
NM_000214.3(JAG1):c.2113+16C>T
|
rs2067301201
|
|
NM_000214.3(JAG1):c.2113+1G>T
|
rs1294950721
|
|
NM_000214.3(JAG1):c.2113+5G>A
|
rs886044704
|
|
NM_000214.3(JAG1):c.2113+5G>C
|
rs886044704
|
|
NM_000214.3(JAG1):c.2113del (p.Arg705fs)
|
|
|
NM_000214.3(JAG1):c.2114-18T>G
|
rs766999933
|
|
NM_000214.3(JAG1):c.2114-2A>C
|
|
|
NM_000214.3(JAG1):c.2114-4C>T
|
|
|
NM_000214.3(JAG1):c.2114-5_2119delinsACACACCACCTGCACGTG
|
rs2122603096
|
|
NM_000214.3(JAG1):c.2115T>C (p.Arg705=)
|
rs2122603103
|
|
NM_000214.3(JAG1):c.2118_2119del (p.Asp706fs)
|
rs1568794159
|
|
NM_000214.3(JAG1):c.2120G>A (p.Ser707Asn)
|
rs2122603091
|
|
NM_000214.3(JAG1):c.2122C>T (p.Gln708Ter)
|
rs886044136
|
|
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)
|
rs727504412
|
|
NM_000214.3(JAG1):c.2123A>C (p.Gln708Pro)
|
|
|
NM_000214.3(JAG1):c.2123_2124del (p.Gln708fs)
|
rs2122603085
|
|
NM_000214.3(JAG1):c.2129dup (p.Asp710fs)
|
rs2067300184
|
|
NM_000214.3(JAG1):c.2132A>T (p.Glu711Val)
|
|
|
NM_000214.3(JAG1):c.2136C>A (p.Ala712=)
|
|
|
NM_000214.3(JAG1):c.2136C>T (p.Ala712=)
|
|
|
NM_000214.3(JAG1):c.213_214delinsC (p.Asp72fs)
|
|
|
NM_000214.3(JAG1):c.2140T>C (p.Cys714Arg)
|
|
|
NM_000214.3(JAG1):c.2141G>A (p.Cys714Tyr)
|
rs2067300040
|
|
NM_000214.3(JAG1):c.2143A>C (p.Asn715His)
|
|
|
NM_000214.3(JAG1):c.2150G>C (p.Gly717Ala)
|
rs200473477
|
|
NM_000214.3(JAG1):c.2157C>A (p.Thr719=)
|
rs2122602999
|
|
NM_000214.3(JAG1):c.2161T>A (p.Tyr721Asn)
|
|
|
NM_000214.3(JAG1):c.2163T>C (p.Tyr721=)
|
rs2122602994
|
|
NM_000214.3(JAG1):c.2169G>A (p.Glu723=)
|
|
|
NM_000214.3(JAG1):c.216C>T (p.Asp72=)
|
|
|
NM_000214.3(JAG1):c.2170G>A (p.Gly724Arg)
|
rs2067299833
|
|
NM_000214.3(JAG1):c.2172_2173dup (p.Asp725fs)
|
rs1568794128
|
|
NM_000214.3(JAG1):c.2173G>T (p.Asp725Tyr)
|
rs2122602965
|
|
NM_000214.3(JAG1):c.2173dup (p.Asp725fs)
|
rs1568794128
|
|
NM_000214.3(JAG1):c.2174A>G (p.Asp725Gly)
|
|
|
NM_000214.3(JAG1):c.217dup (p.Thr73fs)
|
|
|
NM_000214.3(JAG1):c.2188A>G (p.Met730Val)
|
|
|
NM_000214.3(JAG1):c.2198G>C (p.Gly733Ala)
|
|
|
NM_000214.3(JAG1):c.219A>G (p.Thr73=)
|
|
|
NM_000214.3(JAG1):c.2201G>A (p.Gly734Asp)
|
rs2122602901
|
|
NM_000214.3(JAG1):c.2209G>T (p.Gly737Ter)
|
rs2122602893
|
|
NM_000214.3(JAG1):c.2210del (p.Gly737fs)
|
|
|
NM_000214.3(JAG1):c.2217C>T (p.Thr739=)
|
|
|
NM_000214.3(JAG1):c.2225_2226del (p.Ile742fs)
|
rs1555828209
|
|
NM_000214.3(JAG1):c.2227+14C>A
|
rs936598165
|
|
NM_000214.3(JAG1):c.2227+50G>C
|
rs540429229
|
|
NM_000214.3(JAG1):c.2228-12C>T
|
|
|
NM_000214.3(JAG1):c.2228-13T>C
|
|
|
NM_000214.3(JAG1):c.2228-13T>G
|
rs1163165774
|
|
NM_000214.3(JAG1):c.2228-18T>C
|
|
|
NM_000214.3(JAG1):c.2228-3T>G
|
|
|
NM_000214.3(JAG1):c.2228-6T>C
|
|
|
NM_000214.3(JAG1):c.222C>T (p.Tyr74=)
|
rs1600196465
|
|
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)
|
rs863223655
|
|
NM_000214.3(JAG1):c.2237G>A (p.Ser746Asn)
|
rs2122602515
|
|
NM_000214.3(JAG1):c.2242T>C (p.Cys748Arg)
|
rs2122602509
|
|
NM_000214.3(JAG1):c.2247G>C (p.Leu749=)
|
|
|
NM_000214.3(JAG1):c.2247G>T (p.Leu749=)
|
rs982976067
|
|
NM_000214.3(JAG1):c.224T>C (p.Phe75Ser)
|
rs2122644646
|
|
NM_000214.3(JAG1):c.2254C>G (p.Pro752Ala)
|
|
|
NM_000214.3(JAG1):c.2257dup (p.Cys753fs)
|
rs863223672
|
|
NM_000214.3(JAG1):c.2258G>T (p.Cys753Phe)
|
rs2122602473
|
|
NM_000214.3(JAG1):c.225C>A (p.Phe75Leu)
|
rs1600196460
|
|
NM_000214.3(JAG1):c.2264A>G (p.Asn755Ser)
|
rs2122602452
|
|
NM_000214.3(JAG1):c.2268_2270del (p.Gly757del)
|
|
|
NM_000214.3(JAG1):c.2270G>A (p.Gly757Asp)
|
|
|
NM_000214.3(JAG1):c.2270del (p.Gly757fs)
|
|
|
NM_000214.3(JAG1):c.2270dup (p.Thr758fs)
|
rs886043605
|
|
NM_000214.3(JAG1):c.2274_2275del (p.Val760fs)
|
|
|
NM_000214.3(JAG1):c.2278del (p.Val760fs)
|
rs2067297301
|
|
NM_000214.3(JAG1):c.2280G>T (p.Val760=)
|
|
|
NM_000214.3(JAG1):c.2283C>T (p.Val761=)
|
|
|
NM_000214.3(JAG1):c.228del (p.Val77fs)
|
rs2067506937
|
|
NM_000214.3(JAG1):c.2290G>A (p.Glu764Lys)
|
|
|
NM_000214.3(JAG1):c.2295C>G (p.Ser765=)
|
|
|
NM_000214.3(JAG1):c.2300C>A (p.Thr767Lys)
|
|
|
NM_000214.3(JAG1):c.2300C>G (p.Thr767Arg)
|
|
|
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter)
|
rs755427292
|
|
NM_000214.3(JAG1):c.2310C>A (p.Cys770Ter)
|
rs886043904
|
|
NM_000214.3(JAG1):c.2312A>C (p.Lys771Thr)
|
rs149949294
|
|
NM_000214.3(JAG1):c.2318del (p.Gly773fs)
|
rs2122602312
|
|
NM_000214.3(JAG1):c.2319C>T (p.Gly773=)
|
rs2122602306
|
|
NM_000214.3(JAG1):c.2322G>A (p.Trp774Ter)
|
rs1555828173
|
|
NM_000214.3(JAG1):c.2323del (p.Glu775fs)
|
rs2067296758
|
|
NM_000214.3(JAG1):c.2329C>A (p.Pro777Thr)
|
|
|
NM_000214.3(JAG1):c.232T>C (p.Cys78Arg)
|
rs1600196455
|
|
NM_000214.3(JAG1):c.232T>G (p.Cys78Gly)
|
rs1600196455
|
|
NM_000214.3(JAG1):c.2334C>T (p.Ile778=)
|
rs1270085831
|
|
NM_000214.3(JAG1):c.233G>A (p.Cys78Tyr)
|
rs1555830957
|
|
NM_000214.3(JAG1):c.233G>C (p.Cys78Ser)
|
rs1555830957
|
|
NM_000214.3(JAG1):c.2341C>T (p.Gln781Ter)
|
|
|
NM_000214.3(JAG1):c.2342dup (p.Asn782fs)
|
rs886039887
|
|
NM_000214.3(JAG1):c.2344+15C>A
|
|
|
NM_000214.3(JAG1):c.2344+15C>T
|
rs200139177
|
|
NM_000214.3(JAG1):c.2344+16C>A
|
rs566576965
|
|
NM_000214.3(JAG1):c.2344+16C>G
|
rs566576965
|
|
NM_000214.3(JAG1):c.2344+16C>T
|
|
|
NM_000214.3(JAG1):c.2344+17del
|
rs774508190
|
|
NM_000214.3(JAG1):c.2344+6T>C
|
|
|
NM_000214.3(JAG1):c.2344+7G>A
|
|
|
NM_000214.3(JAG1):c.2344+9C>G
|
|
|
NM_000214.3(JAG1):c.2344A>G (p.Asn782Asp)
|
|
|
NM_000214.3(JAG1):c.2345-13C>T
|
|
|
NM_000214.3(JAG1):c.2345-14T>G
|
|
|
NM_000214.3(JAG1):c.2345-18_2345-17delinsAA
|
rs2122601613
|
|
NM_000214.3(JAG1):c.2345-1G>A
|
rs1568793670
|
|
NM_000214.3(JAG1):c.2345-8_2345-6del
|
rs1396652277
|
|
NM_000214.3(JAG1):c.2346T>C (p.Asn782=)
|
|
|
NM_000214.3(JAG1):c.2349C>A (p.Thr783=)
|
|
|
NM_000214.3(JAG1):c.2358C>A (p.Cys786Ter)
|
rs1189479619
|
|
NM_000214.3(JAG1):c.2358C>T (p.Cys786=)
|
rs1189479619
|
|
NM_000214.3(JAG1):c.235C>T (p.Leu79Phe)
|
|
|
NM_000214.3(JAG1):c.236_251del (p.Leu79fs)
|
rs1600196426
|
|
NM_000214.3(JAG1):c.2370del (p.Cys791fs)
|
rs886042050
|
|
NM_000214.3(JAG1):c.2372+13T>C
|
|
|
NM_000214.3(JAG1):c.2372+15C>A
|
|
|
NM_000214.3(JAG1):c.2372+15C>T
|
rs748962378
|
|
NM_000214.3(JAG1):c.2372+1G>T
|
rs2067293664
|
|
NM_000214.3(JAG1):c.2372+3_2372+6del
|
rs2067293629
|
|
NM_000214.3(JAG1):c.2372+43TG[17]
|
rs33967297
|
|
NM_000214.3(JAG1):c.2372+43TG[18]
|
rs33967297
|
|
NM_000214.3(JAG1):c.2372+43TG[20]
|
rs33967297
|
|
NM_000214.3(JAG1):c.2372+43TG[21]
|
rs33967297
|
|
NM_000214.3(JAG1):c.2372+77T>A
|
rs755034660
|
|
NM_000214.3(JAG1):c.2372+7G>A
|
|
|
NM_000214.3(JAG1):c.2372+80GA[3]
|
rs113910163
|
|
NM_000214.3(JAG1):c.2372+80_2372+81insGTGTGA
|
rs1555828066
|
|
NM_000214.3(JAG1):c.2372+80_2372+81insGTGTGTGA
|
rs1555828066
|
|
NM_000214.3(JAG1):c.2382C>A (p.Ser794Arg)
|
rs56225585
|
|
NM_000214.3(JAG1):c.2385del (p.Thr796fs)
|
rs1568793309
|
|
NM_000214.3(JAG1):c.2388C>T (p.Thr796=)
|
|
|
NM_000214.3(JAG1):c.238A>T (p.Lys80Ter)
|
rs1600196443
|
|
NM_000214.3(JAG1):c.2394G>A (p.Val798=)
|
|
|
NM_000214.3(JAG1):c.23G>A (p.Gly8Asp)
|
rs993238320
|
|
NM_000214.3(JAG1):c.2406del (p.Trp803fs)
|
|
|
NM_000214.3(JAG1):c.2412C>A (p.Tyr804Ter)
|
rs2122600550
|
|
NM_000214.3(JAG1):c.2412C>T (p.Tyr804=)
|
rs2122600550
|
|
NM_000214.3(JAG1):c.2415G>C (p.Arg805=)
|
|
|
NM_000214.3(JAG1):c.2415del (p.Cys806fs)
|
|
|
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter)
|
rs533306015
|
|
NM_000214.3(JAG1):c.2418C>T (p.Cys806=)
|
|
|
NM_000214.3(JAG1):c.2418del (p.Cys806fs)
|
rs876661165
|
|
NM_000214.3(JAG1):c.2424T>A (p.Cys808Ter)
|
rs1568793265
|
|
NM_000214.3(JAG1):c.2430G>A (p.Pro810=)
|
|
|
NM_000214.3(JAG1):c.2433T>G (p.Gly811=)
|
|
|
NM_000214.3(JAG1):c.243G>C (p.Glu81Asp)
|
rs2067506800
|
|
NM_000214.3(JAG1):c.2442G>A (p.Gly814=)
|
|
|
NM_000214.3(JAG1):c.2446G>A (p.Asp816Asn)
|
|
|
NM_000214.3(JAG1):c.2447A>T (p.Asp816Val)
|
|
|
NM_000214.3(JAG1):c.2458+10G>C
|
rs778204780
|
|
NM_000214.3(JAG1):c.2458+124G>T
|
rs2122600197
|
|
NM_000214.3(JAG1):c.2458+16G>A
|
rs772170740
|
|
NM_000214.3(JAG1):c.2458+16G>T
|
|
|
NM_000214.3(JAG1):c.2458+18C>G
|
rs2122600384
|
|
NM_000214.3(JAG1):c.2458+1G>A
|
rs2122600431
|
|
NM_000214.3(JAG1):c.2458+2T>G
|
rs2122600427
|
|
NM_000214.3(JAG1):c.2458+2_2458+4del
|
|
|
NM_000214.3(JAG1):c.2458+2_2458+5del
|
rs1568793232
|
|
NM_000214.3(JAG1):c.2458+4A>C
|
rs2122600423
|
|
NM_000214.3(JAG1):c.2459-10T>C
|
|
|
NM_000214.3(JAG1):c.2459-12C>T
|
|
|
NM_000214.3(JAG1):c.2459-15del
|
|
|
NM_000214.3(JAG1):c.2459-2A>G
|
|
|
NM_000214.3(JAG1):c.2459-89T>G
|
rs2122598806
|
|
NM_000214.3(JAG1):c.245A>G (p.Tyr82Cys)
|
|
|
NM_000214.3(JAG1):c.2465del (p.Asn822fs)
|
rs863223673
|
|
NM_000214.3(JAG1):c.2473C>T (p.Gln825Ter)
|
rs1437309558
|
|
NM_000214.3(JAG1):c.2489C>T (p.Ala830Val)
|
|
|
NM_000214.3(JAG1):c.2493dup (p.Gly832fs)
|
|
|
NM_000214.3(JAG1):c.2505T>A (p.Cys835Ter)
|
|
|
NM_000214.3(JAG1):c.2507_2508del (p.Val836fs)
|
rs1600179892
|
|
NM_000214.3(JAG1):c.2510A>T (p.Asp837Val)
|
|
|
NM_000214.3(JAG1):c.2511T>G (p.Asp837Glu)
|
|
|
NM_000214.3(JAG1):c.2515A>T (p.Ile839Phe)
|
|
|
NM_000214.3(JAG1):c.2522G>A (p.Gly841Asp)
|
rs1568792702
|
|
NM_000214.3(JAG1):c.2529G>T (p.Arg843=)
|
|
|
NM_000214.3(JAG1):c.2530_2552delinsGCACAT (p.Cys844fs)
|
rs1600179847
|
|
NM_000214.3(JAG1):c.2532T>A (p.Cys844Ter)
|
rs1600179855
|
|
NM_000214.3(JAG1):c.2538C>A (p.Cys846Ter)
|
|
|
NM_000214.3(JAG1):c.2538C>T (p.Cys846=)
|
rs2122598522
|
|
NM_000214.3(JAG1):c.2539C>A (p.Pro847Thr)
|
|
|
NM_000214.3(JAG1):c.253C>T (p.Arg85Cys)
|
rs2122644586
|
|
NM_000214.3(JAG1):c.2555G>T (p.Gly852Val)
|
|
|
NM_000214.3(JAG1):c.2557G>A (p.Ala853Thr)
|
|
|
NM_000214.3(JAG1):c.2557G>T (p.Ala853Ser)
|
rs967515336
|
|
NM_000214.3(JAG1):c.255C>T (p.Arg85=)
|
|
|
NM_000214.3(JAG1):c.2565C>T (p.Cys855=)
|
rs1230847690
|
|
NM_000214.3(JAG1):c.2566C>T (p.Gln856Ter)
|
rs876661061
|
|
NM_000214.3(JAG1):c.2569G>A (p.Glu857Lys)
|
|
|
NM_000214.3(JAG1):c.2572+14G>T
|
rs1314044373
|
|
NM_000214.3(JAG1):c.2572+17T>C
|
|
|
NM_000214.3(JAG1):c.2572+1G>C
|
|
|
NM_000214.3(JAG1):c.2572+1G>T
|
|
|
NM_000214.3(JAG1):c.2572+4T>C
|
|
|
NM_000214.3(JAG1):c.2572+9G>T
|
|
|
NM_000214.3(JAG1):c.2573-16_2573-7del
|
|
|
NM_000214.3(JAG1):c.2573-294C>A
|
rs73075341
|
|
NM_000214.3(JAG1):c.2575dup (p.Ser859fs)
|
|
|
NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu)
|
rs762121866
|
|
NM_000214.3(JAG1):c.2579G>C (p.Gly860Ala)
|
|
|
NM_000214.3(JAG1):c.2581A>G (p.Arg861Gly)
|
|
|
NM_000214.3(JAG1):c.2583dup (p.Pro862fs)
|
|
|
NM_000214.3(JAG1):c.2595dup (p.Met866fs)
|
|
|
NM_000214.3(JAG1):c.2601_2603delinsTGATGCA (p.Ser868fs)
|
rs1568792344
|
|
NM_000214.3(JAG1):c.260C>G (p.Thr87Arg)
|
|
|
NM_000214.3(JAG1):c.2611_2612delinsTG (p.Pro871Ter)
|
rs2122597347
|
|
NM_000214.3(JAG1):c.2616T>C (p.Asp872=)
|
|
|
NM_000214.3(JAG1):c.2618G>C (p.Gly873Ala)
|
|
|
NM_000214.3(JAG1):c.2619_2620del (p.Ala874fs)
|
rs863223674
|
|
NM_000214.3(JAG1):c.2620G>A (p.Ala874Thr)
|
|
|
NM_000214.3(JAG1):c.2625del (p.Lys875fs)
|
|
|
NM_000214.3(JAG1):c.2627G>A (p.Trp876Ter)
|
rs2122597289
|
|
NM_000214.3(JAG1):c.2628_2635del (p.Trp876_Asp879delinsTer)
|
rs2122597276
|
|
NM_000214.3(JAG1):c.2629dup (p.Asp877fs)
|
rs2067274453
|
|
NM_000214.3(JAG1):c.262G>A (p.Ala88Thr)
|
|
|
NM_000214.3(JAG1):c.262G>T (p.Ala88Ser)
|
|
|
NM_000214.3(JAG1):c.2632G>A (p.Asp878Asn)
|
rs750102792
|
|
NM_000214.3(JAG1):c.2636A>G (p.Asp879Gly)
|
rs948733750
|
|
NM_000214.3(JAG1):c.2638T>C (p.Cys880Arg)
|
rs756911979
|
|
NM_000214.3(JAG1):c.2639_2640del (p.Asp879_Cys880insTer)
|
rs1568792286
|
|
NM_000214.3(JAG1):c.2640del (p.Asp879_Cys880insTer)
|
rs1085307595
|
|
NM_000214.3(JAG1):c.2640dup (p.Asn881Ter)
|
|
|
NM_000214.3(JAG1):c.2645C>T (p.Thr882Ile)
|
|
|
NM_000214.3(JAG1):c.2650C>T (p.Gln884Ter)
|
rs2122597239
|
|
NM_000214.3(JAG1):c.2652G>T (p.Gln884His)
|
|
|
NM_000214.3(JAG1):c.2653T>C (p.Cys885Arg)
|
rs1568792271
|
|
NM_000214.3(JAG1):c.265G>C (p.Gly89Arg)
|
rs199545881
|
|
NM_000214.3(JAG1):c.2665C>G (p.Arg889Gly)
|
|
|
NM_000214.3(JAG1):c.2665C>T (p.Arg889Trp)
|
rs765431150
|
|
NM_000214.3(JAG1):c.2672C>T (p.Ala891Val)
|
|
|
NM_000214.3(JAG1):c.2675G>A (p.Cys892Tyr)
|
|
|
NM_000214.3(JAG1):c.2682+18_2682+31del
|
|
|
NM_000214.3(JAG1):c.2682+1G>T
|
rs1568792238
|
|
NM_000214.3(JAG1):c.2682+8A>C
|
|
|
NM_000214.3(JAG1):c.2682+8A>G
|
rs560065330
|
|
NM_000214.3(JAG1):c.2682G>T (p.Lys894Asn)
|
|
|
NM_000214.3(JAG1):c.2683-17C>T
|
|
|
NM_000214.3(JAG1):c.2683-1G>A
|
|
|
NM_000214.3(JAG1):c.2688G>A (p.Trp896Ter)
|
rs1060501350
|
|
NM_000214.3(JAG1):c.2689_2693del (p.Cys897fs)
|
rs1555827790
|
|
NM_000214.3(JAG1):c.2690_2694dup (p.Pro899fs)
|
|
|
NM_000214.3(JAG1):c.2690dup (p.Cys897fs)
|
rs2067273607
|
|
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter)
|
rs1555827789
|
|
NM_000214.3(JAG1):c.2699G>A (p.Arg900Gln)
|
|
|
NM_000214.3(JAG1):c.269_270del (p.Gly90fs)
|
rs863223667
|
|
NM_000214.3(JAG1):c.26G>C (p.Arg9Pro)
|
|
|
NM_000214.3(JAG1):c.2700A>G (p.Arg900=)
|
|
|
NM_000214.3(JAG1):c.2700A>T (p.Arg900=)
|
|
|
NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser)
|
rs876661122
|
|
NM_000214.3(JAG1):c.2706C>A (p.Cys902Ter)
|
rs886043869
|
|
NM_000214.3(JAG1):c.2709G>A (p.Leu903=)
|
|
|
NM_000214.3(JAG1):c.270dup (p.Pro91fs)
|
rs863223667
|
|
NM_000214.3(JAG1):c.2713C>T (p.His905Tyr)
|
rs758741663
|
|
NM_000214.3(JAG1):c.2715C>T (p.His905=)
|
rs2122596864
|
|
NM_000214.3(JAG1):c.2716A>C (p.Lys906Gln)
|
|
|
NM_000214.3(JAG1):c.2717_2725dup (p.His908_Ser909insLysGlyHis)
|
|
|
NM_000214.3(JAG1):c.271C>G (p.Pro91Ala)
|
|
|
NM_000214.3(JAG1):c.2727_2728dup (p.Glu910fs)
|
rs1600179237
|
|
NM_000214.3(JAG1):c.2728G>T (p.Glu910Ter)
|
|
|
NM_000214.3(JAG1):c.2728_2748del (p.Glu910_Ser916del)
|
rs1568792111
|
|
NM_000214.3(JAG1):c.2728dup (p.Glu910fs)
|
rs886042155
|
|
NM_000214.3(JAG1):c.2732G>A (p.Cys911Tyr)
|
rs1555827782
|
|
NM_000214.3(JAG1):c.2733C>G (p.Cys911Trp)
|
rs1411780867
|
|
NM_000214.3(JAG1):c.273del (p.Cys92fs)
|
rs2122644538
|
|
NM_000214.3(JAG1):c.2743C>T (p.Gln915Ter)
|
rs1568792125
|
|
NM_000214.3(JAG1):c.2750G>C (p.Cys917Ser)
|
|
|
NM_000214.3(JAG1):c.2752A>G (p.Ile918Val)
|
rs773431867
|
|
NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe)
|
rs1252730791
|
|
NM_000214.3(JAG1):c.2759T>C (p.Ile920Thr)
|
|
|
NM_000214.3(JAG1):c.2759_2766del (p.Ile920fs)
|
|
|
NM_000214.3(JAG1):c.2765A>G (p.Asp922Gly)
|
|
|
NM_000214.3(JAG1):c.2766C>A (p.Asp922Glu)
|
|
|
NM_000214.3(JAG1):c.2774_2788delinsCCAGGGCA (p.Cys925fs)
|
rs1555827769
|
|
NM_000214.3(JAG1):c.2790C>T (p.Cys930=)
|
|
|
NM_000214.3(JAG1):c.2791A>C (p.Thr931Pro)
|
rs2067272394
|
|
NM_000214.3(JAG1):c.2797G>A (p.Val933Met)
|
rs2122596605
|
|
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp)
|
rs1568792060
|
|
NM_000214.3(JAG1):c.2803G>A (p.Glu935Lys)
|
|
|
NM_000214.3(JAG1):c.2803G>T (p.Glu935Ter)
|
rs753161584
|
|
NM_000214.3(JAG1):c.2805G>A (p.Glu935=)
|
rs1568792051
|
|
NM_000214.3(JAG1):c.2807G>A (p.Cys936Tyr)
|
rs1568792050
|
|
NM_000214.3(JAG1):c.2807G>C (p.Cys936Ser)
|
|
|
NM_000214.3(JAG1):c.2809C>T (p.Arg937Trp)
|
rs779410593
|
|
NM_000214.3(JAG1):c.2826G>A (p.Gln942=)
|
rs760765525
|
|
NM_000214.3(JAG1):c.2829G>T (p.Pro943=)
|
|
|
NM_000214.3(JAG1):c.2830del (p.Pro943_Val944insTer)
|
rs1555827760
|
|
NM_000214.3(JAG1):c.2831T>A (p.Val944Glu)
|
rs1007864519
|
|
NM_000214.3(JAG1):c.2840del (p.Lys947fs)
|
rs1060501349
|
|
NM_000214.3(JAG1):c.2844C>A (p.Cys948Ter)
|
rs1060501352
|
|
NM_000214.3(JAG1):c.2858A>G (p.Tyr953Cys)
|
|
|
NM_000214.3(JAG1):c.2863C>T (p.Gln955Ter)
|
rs2122596452
|
|
NM_000214.3(JAG1):c.2866G>C (p.Asp956His)
|
|
|
NM_000214.3(JAG1):c.2881A>G (p.Ile961Val)
|
rs1028081494
|
|
NM_000214.3(JAG1):c.2884A>G (p.Thr962Ala)
|
|
|
NM_000214.3(JAG1):c.288A>G (p.Ser96=)
|
|
|
NM_000214.3(JAG1):c.2895dup (p.Asn966Ter)
|
rs878853752
|
|
NM_000214.3(JAG1):c.2899_2901del (p.Lys967del)
|
|
|
NM_000214.3(JAG1):c.289G>C (p.Gly97Arg)
|
rs2067506326
|
|
NM_000214.3(JAG1):c.28T>C (p.Ser10Pro)
|
|
|
NM_000214.3(JAG1):c.2904G>C (p.Glu968Asp)
|
|
|
NM_000214.3(JAG1):c.2910G>A (p.Met970Ile)
|
rs2067271012
|
|
NM_000214.3(JAG1):c.2914C>G (p.Pro972Ala)
|
rs2067270959
|
|
NM_000214.3(JAG1):c.2914C>T (p.Pro972Ser)
|
rs2067270959
|
|
NM_000214.3(JAG1):c.2916+10A>C
|
|
|
NM_000214.3(JAG1):c.2916+13del
|
rs781696076
|
|
NM_000214.3(JAG1):c.2916+16T>G
|
|
|
NM_000214.3(JAG1):c.2916+17G>A
|
rs767489867
|
|
NM_000214.3(JAG1):c.2916+17_2916+20del
|
|
|
NM_000214.3(JAG1):c.2916+18T>C
|
|
|
NM_000214.3(JAG1):c.2916+18dup
|
rs3215563
|
|
NM_000214.3(JAG1):c.2916+1G>C
|
rs1568791920
|
|
NM_000214.3(JAG1):c.2916+27del
|
rs3215563
|
|
NM_000214.3(JAG1):c.2917-1G>T
|
rs2122595945
|
|
NM_000214.3(JAG1):c.2917-20G>T
|
|
|
NM_000214.3(JAG1):c.2919del (p.Thr975fs)
|
|
|
NM_000214.3(JAG1):c.2920C>G (p.Leu974Val)
|
|
|
NM_000214.3(JAG1):c.2923A>G (p.Thr975Ala)
|
|
|
NM_000214.3(JAG1):c.2924_2925dup (p.Thr976fs)
|
rs863223683
|
|
NM_000214.3(JAG1):c.2926A>G (p.Thr976Ala)
|
|
|
NM_000214.3(JAG1):c.292T>C (p.Ser98Pro)
|
rs1333355200
|
|
NM_000214.3(JAG1):c.2931del (p.Glu977fs)
|
rs2122595901
|
|
NM_000214.3(JAG1):c.2932C>T (p.His978Tyr)
|
|
|
NM_000214.3(JAG1):c.2934C>T (p.His978=)
|
|
|
NM_000214.3(JAG1):c.2939G>C (p.Cys980Ser)
|
rs2122595886
|
|
NM_000214.3(JAG1):c.2948del (p.Glu982_Leu983insTer)
|
rs863223675
|
|
NM_000214.3(JAG1):c.294C>G (p.Ser98=)
|
rs79338570
|
|
NM_000214.3(JAG1):c.294C>T (p.Ser98=)
|
rs79338570
|
|
NM_000214.3(JAG1):c.2956_2957dup (p.Leu986fs)
|
rs2122595849
|
|
NM_000214.3(JAG1):c.2959A>T (p.Asn987Tyr)
|
|
|
NM_000214.3(JAG1):c.2962A>G (p.Ile988Val)
|
|
|
NM_000214.3(JAG1):c.2966dup (p.Leu989fs)
|
rs1555827729
|
|
NM_000214.3(JAG1):c.2968A>T (p.Lys990Ter)
|
rs876661182
|
|
NM_000214.3(JAG1):c.2972A>C (p.Asn991Thr)
|
|
|
NM_000214.3(JAG1):c.2973T>C (p.Asn991=)
|
rs1317729135
|
|
NM_000214.3(JAG1):c.2978C>T (p.Ser993Phe)
|
|
|
NM_000214.3(JAG1):c.2979_2980delinsTT (p.Ala994Ser)
|
rs2122595817
|
|
NM_000214.3(JAG1):c.297_298delinsCT (p.Pro100Ser)
|
rs2122644496
|
|
NM_000214.3(JAG1):c.2982T>A (p.Ala994=)
|
rs1340131717
|
|
NM_000214.3(JAG1):c.2990C>G (p.Ser997Ter)
|
rs2067268487
|
|
NM_000214.3(JAG1):c.2990C>T (p.Ser997Leu)
|
|
|
NM_000214.3(JAG1):c.2995T>C (p.Tyr999His)
|
|
|
NM_000214.3(JAG1):c.2996A>C (p.Tyr999Ser)
|
rs1555827726
|
|
NM_000214.3(JAG1):c.2998_3004del (p.Ile1000fs)
|
|
|
NM_000214.3(JAG1):c.2999dup (p.Ala1001fs)
|
|
|
NM_000214.3(JAG1):c.29C>T (p.Ser10Phe)
|
|
|
NM_000214.3(JAG1):c.3000C>G (p.Ile1000Met)
|
|
|
NM_000214.3(JAG1):c.3000C>T (p.Ile1000=)
|
rs373759023
|
|
NM_000214.3(JAG1):c.3001G>T (p.Ala1001Ser)
|
|
|
NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs)
|
rs2067268275
|
|
NM_000214.3(JAG1):c.3002C>T (p.Ala1001Val)
|
rs2122595760
|
|
NM_000214.3(JAG1):c.3003_3006dup (p.Glu1003fs)
|
|
|
NM_000214.3(JAG1):c.3006C>A (p.Cys1002Ter)
|
rs372984801
|
|
NM_000214.3(JAG1):c.3006_3024dup (p.Asn1009fs)
|
rs2122595693
|
|
NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys)
|
rs781509375
|
|
NM_000214.3(JAG1):c.3007G>C (p.Glu1003Gln)
|
rs781509375
|
|
NM_000214.3(JAG1):c.3007G>T (p.Glu1003Ter)
|
rs781509375
|
|
NM_000214.3(JAG1):c.3007_3013dup (p.Ser1005Ter)
|
rs1568791694
|
|
NM_000214.3(JAG1):c.3007_3017dup (p.Ala1008fs)
|
rs1600178720
|
|
NM_000214.3(JAG1):c.3008_3009dup (p.Pro1004fs)
|
rs863223676
|
|
NM_000214.3(JAG1):c.3008_3012dup (p.Pro1006fs)
|
rs1600178730
|
|
NM_000214.3(JAG1):c.3009G>A (p.Glu1003=)
|
|
|
NM_000214.3(JAG1):c.3009_3025dup (p.Asn1009fs)
|
rs1555827717
|
|
NM_000214.3(JAG1):c.3016C>T (p.Pro1006Ser)
|
rs2122595723
|
|
NM_000214.3(JAG1):c.3017C>G (p.Pro1006Arg)
|
|
|
NM_000214.3(JAG1):c.301G>C (p.Val101Leu)
|
rs1600196349
|
|
NM_000214.3(JAG1):c.3023C>G (p.Ala1008Gly)
|
rs577307986
|
|
NM_000214.3(JAG1):c.3029A>G (p.Asn1010Ser)
|
rs2067267863
|
|
NM_000214.3(JAG1):c.3031G>C (p.Glu1011Gln)
|
|
|
NM_000214.3(JAG1):c.3032A>G (p.Glu1011Gly)
|
rs2067267844
|
|
NM_000214.3(JAG1):c.3039dup (p.Val1014fs)
|
rs2122595645
|
|
NM_000214.3(JAG1):c.303C>G (p.Val101=)
|
|
|
NM_000214.3(JAG1):c.3045C>G (p.Ala1015=)
|
rs886043607
|
|
NM_000214.3(JAG1):c.3048+1G>A
|
rs876661121
|
|
NM_000214.3(JAG1):c.3048+1G>T
|
rs876661121
|
|
NM_000214.3(JAG1):c.3048+2T>A
|
|
|
NM_000214.3(JAG1):c.3048+30_3048+32del
|
rs759022807
|
|
NM_000214.3(JAG1):c.3048+5G>A
|
|
|
NM_000214.3(JAG1):c.3049-2A>G
|
rs2122595262
|
|
NM_000214.3(JAG1):c.3057dup (p.Asp1020fs)
|
|
|
NM_000214.3(JAG1):c.3061A>C (p.Ile1021Leu)
|
|
|
NM_000214.3(JAG1):c.3062T>C (p.Ile1021Thr)
|
rs1736644803
|
|
NM_000214.3(JAG1):c.3062del (p.Ile1021fs)
|
rs876661095
|
|
NM_000214.3(JAG1):c.3067del (p.Asp1023fs)
|
rs863223677
|
|
NM_000214.3(JAG1):c.3070G>A (p.Asp1024Asn)
|
|
|
NM_000214.3(JAG1):c.3074_3075delinsAA (p.Gly1025Glu)
|
|
|
NM_000214.3(JAG1):c.307G>A (p.Gly103Arg)
|
rs749591256
|
|
NM_000214.3(JAG1):c.307G>C (p.Gly103Arg)
|
rs749591256
|
|
NM_000214.3(JAG1):c.3081G>T (p.Pro1027=)
|
|
|
NM_000214.3(JAG1):c.3083T>C (p.Ile1028Thr)
|
|
|
NM_000214.3(JAG1):c.3084C>A (p.Ile1028=)
|
rs2122595186
|
|
NM_000214.3(JAG1):c.3097G>A (p.Asp1033Asn)
|
|
|
NM_000214.3(JAG1):c.3097G>C (p.Asp1033His)
|
rs772228887
|
|
NM_000214.3(JAG1):c.3099C>G (p.Asp1033Glu)
|
|
|
NM_000214.3(JAG1):c.30del (p.Arg12fs)
|
rs1568807483
|
|
NM_000214.3(JAG1):c.3100A>T (p.Lys1034Ter)
|
rs2122595154
|
|
NM_000214.3(JAG1):c.310G>A (p.Gly104Ser)
|
|
|
NM_000214.3(JAG1):c.3112C>A (p.Leu1038Ile)
|
|
|
NM_000214.3(JAG1):c.3112C>G (p.Leu1038Val)
|
|
|
NM_000214.3(JAG1):c.311del (p.Gly104fs)
|
rs886041782
|
|
NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys)
|
|
|
NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn)
|
rs1278689263
|
|
NM_000214.3(JAG1):c.3132A>C (p.Gly1044=)
|
|
|
NM_000214.3(JAG1):c.3140C>A (p.Ser1047Ter)
|
rs267605834
|
|
NM_000214.3(JAG1):c.3140C>T (p.Ser1047Leu)
|
rs267605834
|
|
NM_000214.3(JAG1):c.3147T>C (p.Ile1049=)
|
rs1003116204
|
|
NM_000214.3(JAG1):c.3147T>G (p.Ile1049Met)
|
|
|
NM_000214.3(JAG1):c.3149C>T (p.Ala1050Val)
|
rs764799076
|
|
NM_000214.3(JAG1):c.314A>G (p.Asn105Ser)
|
rs1568806951
|
|
NM_000214.3(JAG1):c.3153del (p.Val1052fs)
|
|
|
NM_000214.3(JAG1):c.3157G>A (p.Ala1053Thr)
|
rs2067265410
|
|
NM_000214.3(JAG1):c.3164T>A (p.Val1055Glu)
|
|
|
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs)
|
rs1555827653
|
|
NM_000214.3(JAG1):c.3164dup (p.Arg1056fs)
|
rs2122595010
|
|
NM_000214.3(JAG1):c.3165_3184del (p.Arg1056fs)
|
rs1568791393
|
|
NM_000214.3(JAG1):c.3168_3169del (p.Arg1056fs)
|
rs1555827650
|
|
NM_000214.3(JAG1):c.3169G>A (p.Val1057Ile)
|
|
|
NM_000214.3(JAG1):c.3169G>C (p.Val1057Leu)
|
|
|
NM_000214.3(JAG1):c.3170T>C (p.Val1057Ala)
|
rs2122594991
|
|
NM_000214.3(JAG1):c.3172C>T (p.Gln1058Ter)
|
|
|
NM_000214.3(JAG1):c.3178C>T (p.Arg1060Trp)
|
|
|
NM_000214.3(JAG1):c.3180G>A (p.Arg1060=)
|
rs2122594977
|
|
NM_000214.3(JAG1):c.3183T>G (p.Pro1061=)
|
|
|
NM_000214.3(JAG1):c.3186dup (p.Lys1063fs)
|
|
|
NM_000214.3(JAG1):c.3195A>C (p.Arg1065Ser)
|
rs2067265121
|
|
NM_000214.3(JAG1):c.3196_3200del (p.Thr1066fs)
|
rs2067265104
|
|
NM_000214.3(JAG1):c.3197dup (p.Asp1067fs)
|
|
|
NM_000214.3(JAG1):c.3199+16G>A
|
rs774297666
|
|
NM_000214.3(JAG1):c.3199+17A>G
|
|
|
NM_000214.3(JAG1):c.3200-15G>A
|
rs1772957013
|
|
NM_000214.3(JAG1):c.3200-16T>C
|
rs2122593723
|
|
NM_000214.3(JAG1):c.3203del (p.Phe1068fs)
|
rs2122593684
|
|
NM_000214.3(JAG1):c.3206T>C (p.Leu1069Pro)
|
|
|
NM_000214.3(JAG1):c.3208G>A (p.Val1070Ile)
|
|
|
NM_000214.3(JAG1):c.3209T>C (p.Val1070Ala)
|
|
|
NM_000214.3(JAG1):c.3213dup (p.Leu1073fs)
|
rs1568791022
|
|
NM_000214.3(JAG1):c.3222C>T (p.Ser1074=)
|
|
|
NM_000214.3(JAG1):c.3226G>A (p.Val1076Ile)
|
|
|
NM_000214.3(JAG1):c.3228C>T (p.Val1076=)
|
|
|
NM_000214.3(JAG1):c.322A>C (p.Asn108His)
|
rs1242473299
|
|
NM_000214.3(JAG1):c.3230T>G (p.Leu1077Ter)
|
|
|
NM_000214.3(JAG1):c.3233C>G (p.Thr1078Ser)
|
rs767851768
|
|
NM_000214.3(JAG1):c.323A>T (p.Asn108Ile)
|
rs2067505956
|
|
NM_000214.3(JAG1):c.3243G>A (p.Trp1081Ter)
|
|
|
NM_000214.3(JAG1):c.3245_3257del (p.Ile1082fs)
|
rs2067258421
|
|
NM_000214.3(JAG1):c.3255G>C (p.Leu1085Phe)
|
|
|
NM_000214.3(JAG1):c.3256G>A (p.Val1086Met)
|
rs1334024757
|
|
NM_000214.3(JAG1):c.3257dup (p.Thr1087fs)
|
rs2067258384
|
|
NM_000214.3(JAG1):c.3259A>G (p.Thr1087Ala)
|
rs1600177820
|
|
NM_000214.3(JAG1):c.3261G>A (p.Thr1087=)
|
|
|
NM_000214.3(JAG1):c.3265T>C (p.Phe1089Leu)
|
|
|
NM_000214.3(JAG1):c.3284A>G (p.Lys1095Arg)
|
|
|
NM_000214.3(JAG1):c.3287_3295del (p.Arg1096_Lys1098del)
|
rs771530161
|
|
NM_000214.3(JAG1):c.3287_3295dup (p.Arg1096_Lys1098dup)
|
rs771530161
|
|
NM_000214.3(JAG1):c.3293A>G (p.Lys1098Arg)
|
rs2067257938
|
|
NM_000214.3(JAG1):c.3297G>C (p.Pro1099=)
|
|
|
NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn)
|
|
|
NM_000214.3(JAG1):c.3308C>A (p.Thr1103Lys)
|
rs781429347
|
|
NM_000214.3(JAG1):c.3308_3309delinsAC (p.Thr1103Asn)
|
rs1555827516
|
|
NM_000214.3(JAG1):c.3308del (p.Thr1103fs)
|
rs869312854
|
|
NM_000214.3(JAG1):c.3309A>C (p.Thr1103=)
|
rs1259778353
|
|
NM_000214.3(JAG1):c.3309A>T (p.Thr1103=)
|
|
|
NM_000214.3(JAG1):c.3313T>A (p.Ser1105Thr)
|
|
|
NM_000214.3(JAG1):c.3317C>G (p.Ala1106Gly)
|
|
|
NM_000214.3(JAG1):c.3318C>T (p.Ala1106=)
|
rs751836991
|
|
NM_000214.3(JAG1):c.331G>A (p.Ala111Thr)
|
rs763966262
|
|
NM_000214.3(JAG1):c.3325G>A (p.Asp1109Asn)
|
|
|
NM_000214.3(JAG1):c.3325G>T (p.Asp1109Tyr)
|
rs1044765003
|
|
NM_000214.3(JAG1):c.3328A>G (p.Asn1110Asp)
|
|
|
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser)
|
rs150811951
|
|
NM_000214.3(JAG1):c.332C>T (p.Ala111Val)
|
|
|
NM_000214.3(JAG1):c.3331A>G (p.Thr1111Ala)
|
|
|
NM_000214.3(JAG1):c.3338A>C (p.Asn1113Thr)
|
rs371118939
|
|
NM_000214.3(JAG1):c.3340A>G (p.Asn1114Asp)
|
|
|
NM_000214.3(JAG1):c.3348G>A (p.Arg1116=)
|
|
|
NM_000214.3(JAG1):c.3351G>C (p.Glu1117Asp)
|
rs1568790865
|
|
NM_000214.3(JAG1):c.3353_3354delinsCC (p.Gln1118Pro)
|
rs2122593353
|
|
NM_000214.3(JAG1):c.335G>A (p.Ser112Asn)
|
|
|
NM_000214.3(JAG1):c.3360C>T (p.Asn1120=)
|
rs1157149628
|
|
NM_000214.3(JAG1):c.3377T>C (p.Ile1126Thr)
|
|
|
NM_000214.3(JAG1):c.3387T>C (p.His1129=)
|
|
|
NM_000214.3(JAG1):c.3390G>A (p.Gly1130=)
|
|
|
NM_000214.3(JAG1):c.3391G>T (p.Ala1131Ser)
|
rs769242977
|
|
NM_000214.3(JAG1):c.3399G>A (p.Thr1133=)
|
|
|
NM_000214.3(JAG1):c.33G>T (p.Gly11=)
|
|
|
NM_000214.3(JAG1):c.3408C>A (p.Ile1136=)
|
|
|
NM_000214.3(JAG1):c.3410A>G (p.Lys1137Arg)
|
|
|
NM_000214.3(JAG1):c.3417_3418inv (p.Glu1140Lys)
|
|
|
NM_000214.3(JAG1):c.341del (p.Gly114fs)
|
|
|
NM_000214.3(JAG1):c.3431C>G (p.Ser1144Cys)
|
|
|
NM_000214.3(JAG1):c.343A>G (p.Asn115Asp)
|
rs2122644398
|
|
NM_000214.3(JAG1):c.3452del (p.Thr1151fs)
|
|
|
NM_000214.3(JAG1):c.3455A>C (p.His1152Pro)
|
|
|
NM_000214.3(JAG1):c.3456C>G (p.His1152Gln)
|
|
|
NM_000214.3(JAG1):c.3456C>T (p.His1152=)
|
|
|
NM_000214.3(JAG1):c.3460T>C (p.Ser1154Pro)
|
rs2122593151
|
|
NM_000214.3(JAG1):c.346G>T (p.Asp116Tyr)
|
|
|
NM_000214.3(JAG1):c.3476A>T (p.Asp1159Val)
|
|
|
NM_000214.3(JAG1):c.3478G>C (p.Asp1160His)
|
rs755047447
|
|
NM_000214.3(JAG1):c.347A>T (p.Asp116Val)
|
rs2067505703
|
|
NM_000214.3(JAG1):c.3481A>G (p.Met1161Val)
|
|
|
NM_000214.3(JAG1):c.3487A>G (p.Lys1163Glu)
|
|
|
NM_000214.3(JAG1):c.3492C>T (p.His1164=)
|
|
|
NM_000214.3(JAG1):c.349C>G (p.Arg117Gly)
|
rs752608779
|
|
NM_000214.3(JAG1):c.349del (p.Arg117fs)
|
|
|
NM_000214.3(JAG1):c.349dup (p.Arg117fs)
|
rs886041727
|
|
NM_000214.3(JAG1):c.3503C>G (p.Ala1168Gly)
|
|
|
NM_000214.3(JAG1):c.3505C>G (p.Arg1169Gly)
|
rs368162343
|
|
NM_000214.3(JAG1):c.3505C>T (p.Arg1169Trp)
|
|
|
NM_000214.3(JAG1):c.350del (p.Arg117fs)
|
rs1555830929
|
|
NM_000214.3(JAG1):c.3510T>G (p.Phe1170Leu)
|
|
|
NM_000214.3(JAG1):c.3517C>A (p.Gln1173Lys)
|
rs1555827480
|
|
NM_000214.3(JAG1):c.3522G>A (p.Pro1174=)
|
rs1413360004
|
|
NM_000214.3(JAG1):c.3530C>G (p.Thr1177Arg)
|
|
|
NM_000214.3(JAG1):c.3531G>A (p.Thr1177=)
|
rs778296544
|
|
NM_000214.3(JAG1):c.3531G>T (p.Thr1177=)
|
|
|
NM_000214.3(JAG1):c.3534G>T (p.Leu1178=)
|
|
|
NM_000214.3(JAG1):c.3535G>A (p.Val1179Ile)
|
|
|
NM_000214.3(JAG1):c.3538G>A (p.Asp1180Asn)
|
|
|
NM_000214.3(JAG1):c.3540C>T (p.Asp1180=)
|
rs963076704
|
|
NM_000214.3(JAG1):c.3544G>A (p.Glu1182Lys)
|
rs1479790705
|
|
NM_000214.3(JAG1):c.3545A>T (p.Glu1182Val)
|
|
|
NM_000214.3(JAG1):c.3554C>T (p.Pro1185Leu)
|
|
|
NM_000214.3(JAG1):c.3557C>G (p.Pro1186Arg)
|
rs886357715
|
|
NM_000214.3(JAG1):c.3557C>T (p.Pro1186Leu)
|
|
|
NM_000214.3(JAG1):c.3558C>T (p.Pro1186=)
|
|
|
NM_000214.3(JAG1):c.355C>T (p.Arg119Cys)
|
rs1555830925
|
|
NM_000214.3(JAG1):c.3561C>G (p.Asn1187Lys)
|
rs754010868
|
|
NM_000214.3(JAG1):c.3564C>T (p.Gly1188=)
|
|
|
NM_000214.3(JAG1):c.3569C>T (p.Pro1190Leu)
|
|
|
NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr)
|
|
|
NM_000214.3(JAG1):c.3579C>G (p.His1193Gln)
|
|
|
NM_000214.3(JAG1):c.3581C>T (p.Pro1194Leu)
|
|
|
NM_000214.3(JAG1):c.3586T>G (p.Trp1196Gly)
|
|
|
NM_000214.3(JAG1):c.3589A>G (p.Thr1197Ala)
|
rs776209860
|
|
NM_000214.3(JAG1):c.3590C>A (p.Thr1197Lys)
|
|
|
NM_000214.3(JAG1):c.359T>C (p.Ile120Thr)
|
|
|
NM_000214.3(JAG1):c.35G>A (p.Arg12His)
|
rs993180718
|
|
NM_000214.3(JAG1):c.3604A>G (p.Asn1202Asp)
|
|
|
NM_000214.3(JAG1):c.360C>T (p.Ile120=)
|
rs1199774396
|
|
NM_000214.3(JAG1):c.3617A>T (p.Glu1206Val)
|
|
|
NM_000214.3(JAG1):c.3620G>A (p.Ser1207Asn)
|
|
|
NM_000214.3(JAG1):c.3623C>T (p.Ala1208Val)
|
rs2122592834
|
|
NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter)
|
rs769276255
|
|
NM_000214.3(JAG1):c.3638G>T (p.Arg1213Leu)
|
rs138007561
|
|
NM_000214.3(JAG1):c.3644A>C (p.Glu1215Ala)
|
|
|
NM_000214.3(JAG1):c.3648C>A (p.Tyr1216Ter)
|
|
|
NM_000214.3(JAG1):c.3649A>C (p.Ile1217Leu)
|
|
|
NM_000214.3(JAG1):c.3651C>A (p.Ile1217=)
|
|
|
NM_000214.3(JAG1):c.3653T>A (p.Val1218Glu)
|
|
|
NM_000214.3(JAG1):c.368C>T (p.Pro123Leu)
|
rs2122644329
|
|
NM_000214.3(JAG1):c.36C>A (p.Arg12=)
|
rs886042810
|
|
NM_000214.3(JAG1):c.36C>T (p.Arg12=)
|
|
|
NM_000214.3(JAG1):c.373A>G (p.Ser125Gly)
|
|
|
NM_000214.3(JAG1):c.375T>G (p.Ser125Arg)
|
rs2067505361
|
|
NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter)
|
rs886039724
|
|
NM_000214.3(JAG1):c.379G>A (p.Ala127Thr)
|
rs930247415
|
|
NM_000214.3(JAG1):c.382T>C (p.Trp128Arg)
|
rs1568806888
|
|
NM_000214.3(JAG1):c.384G>A (p.Trp128Ter)
|
rs2122644306
|
|
NM_000214.3(JAG1):c.387+10dup
|
rs1464058487
|
|
NM_000214.3(JAG1):c.387+15G>C
|
rs760979506
|
|
NM_000214.3(JAG1):c.387+1G>A
|
|
|
NM_000214.3(JAG1):c.387+1G>C
|
|
|
NM_000214.3(JAG1):c.387+1G>T
|
|
|
NM_000214.3(JAG1):c.387+2T>C
|
rs1555830919
|
|
NM_000214.3(JAG1):c.387+6_387+7del
|
|
|
NM_000214.3(JAG1):c.388-10T>A
|
rs1568803400
|
|
NM_000214.3(JAG1):c.388-12T>G
|
rs2122632237
|
|
NM_000214.3(JAG1):c.388-13G>C
|
rs1445257289
|
|
NM_000214.3(JAG1):c.388-14T>A
|
|
|
NM_000214.3(JAG1):c.388-16_388-12delinsCAGAGGTCCTATACG
|
|
|
NM_000214.3(JAG1):c.388-18_388-17insCAGAG
|
|
|
NM_000214.3(JAG1):c.388-19TTGT[2]
|
rs750004416
|
|
NM_000214.3(JAG1):c.388-2A>C
|
rs2067434947
|
|
NM_000214.3(JAG1):c.388-8del
|
|
|
NM_000214.3(JAG1):c.38C>A (p.Pro13His)
|
|
|
NM_000214.3(JAG1):c.390dup (p.Ser131fs)
|
rs886044111
|
|
NM_000214.3(JAG1):c.391T>C (p.Ser131Pro)
|
|
|
NM_000214.3(JAG1):c.395A>C (p.Tyr132Ser)
|
|
|
NM_000214.3(JAG1):c.396T>C (p.Tyr132=)
|
|
|
NM_000214.3(JAG1):c.39C>T (p.Pro13=)
|
rs2122645916
|
|
NM_000214.3(JAG1):c.3G>A (p.Met1Ile)
|
rs1555831014
|
|
NM_000214.3(JAG1):c.406G>A (p.Val136Met)
|
|
|
NM_000214.3(JAG1):c.406G>T (p.Val136Leu)
|
|
|
NM_000214.3(JAG1):c.408_409dup (p.Glu137fs)
|
rs2067434779
|
|
NM_000214.3(JAG1):c.40C>T (p.Leu14=)
|
|
|
NM_000214.3(JAG1):c.415T>G (p.Trp139Gly)
|
|
|
NM_000214.3(JAG1):c.41del (p.Leu14fs)
|
rs1568807463
|
|
NM_000214.3(JAG1):c.422C>A (p.Ser141Tyr)
|
|
|
NM_000214.3(JAG1):c.425G>A (p.Ser142Asn)
|
rs1436395839
|
|
NM_000214.3(JAG1):c.428A>T (p.Asn143Ile)
|
|
|
NM_000214.3(JAG1):c.42A>G (p.Leu14=)
|
|
|
NM_000214.3(JAG1):c.435C>A (p.Thr145=)
|
rs747879633
|
|
NM_000214.3(JAG1):c.435C>T (p.Thr145=)
|
rs747879633
|
|
NM_000214.3(JAG1):c.438_439+2del
|
rs2122632102
|
|
NM_000214.3(JAG1):c.439+11C>T
|
|
|
NM_000214.3(JAG1):c.439+13T>C
|
|
|
NM_000214.3(JAG1):c.439+16G>A
|
|
|
NM_000214.3(JAG1):c.439+1G>A
|
rs863223648
|
|
NM_000214.3(JAG1):c.439+6T>A
|
rs2067434392
|
|
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter)
|
rs886043606
|
|
NM_000214.3(JAG1):c.440-19T>G
|
|
|
NM_000214.3(JAG1):c.440-22T>G
|
rs776924226
|
|
NM_000214.3(JAG1):c.440-3T>C
|
rs1292445129
|
|
NM_000214.3(JAG1):c.442C>T (p.Pro148Ser)
|
rs1355919795
|
|
NM_000214.3(JAG1):c.443del (p.Pro148fs)
|
|
|
NM_000214.3(JAG1):c.459_460insT (p.Lys154Ter)
|
rs1568801096
|
|
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro)
|
|
|
NM_000214.3(JAG1):c.468T>C (p.Ser156=)
|
rs2122623838
|
|
NM_000214.3(JAG1):c.470A>C (p.His157Pro)
|
rs2122623835
|
|
NM_000214.3(JAG1):c.473C>G (p.Ser158Trp)
|
rs747203032
|
|
NM_000214.3(JAG1):c.473C>T (p.Ser158Leu)
|
|
|
NM_000214.3(JAG1):c.474G>C (p.Ser158=)
|
rs555794483
|
|
NM_000214.3(JAG1):c.487C>T (p.Pro163Ser)
|
rs2067394475
|
|
NM_000214.3(JAG1):c.488C>G (p.Pro163Arg)
|
rs1555829676
|
|
NM_000214.3(JAG1):c.48C>T (p.Leu16=)
|
rs901489977
|
|
NM_000214.3(JAG1):c.490A>G (p.Ser164Gly)
|
|
|
NM_000214.3(JAG1):c.493C>G (p.Arg165Gly)
|
rs749293754
|
|
NM_000214.3(JAG1):c.493C>T (p.Arg165Trp)
|
rs749293754
|
|
NM_000214.3(JAG1):c.495G>T (p.Arg165=)
|
|
|
NM_000214.3(JAG1):c.496C>T (p.Gln166Ter)
|
|
|
NM_000214.3(JAG1):c.499T>C (p.Trp167Arg)
|
rs2067394353
|
|
NM_000214.3(JAG1):c.4C>T (p.Arg2Cys)
|
|
|
NM_000214.3(JAG1):c.500G>A (p.Trp167Ter)
|
rs1568801068
|
|
NM_000214.3(JAG1):c.505A>G (p.Thr169Ala)
|
|
|
NM_000214.3(JAG1):c.506C>T (p.Thr169Met)
|
|
|
NM_000214.3(JAG1):c.507G>A (p.Thr169=)
|
|
|
NM_000214.3(JAG1):c.513G>A (p.Lys171=)
|
|
|
NM_000214.3(JAG1):c.514C>T (p.Gln172Ter)
|
|
|
NM_000214.3(JAG1):c.51G>A (p.Leu17=)
|
rs1018632242
|
|
NM_000214.3(JAG1):c.522G>C (p.Thr174=)
|
|
|
NM_000214.3(JAG1):c.524G>T (p.Gly175Val)
|
rs2122623743
|
|
NM_000214.3(JAG1):c.52C>A (p.Leu18Ile)
|
|
|
NM_000214.3(JAG1):c.52C>T (p.Leu18Phe)
|
|
|
NM_000214.3(JAG1):c.532del (p.His178fs)
|
rs2067394045
|
|
NM_000214.3(JAG1):c.537dup (p.Glu180Ter)
|
rs863223663
|
|
NM_000214.3(JAG1):c.53T>G (p.Leu18Arg)
|
|
|
NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter)
|
rs1060501351
|
|
NM_000214.3(JAG1):c.544C>T (p.Gln182Ter)
|
rs863223678
|
|
NM_000214.3(JAG1):c.545A>G (p.Gln182Arg)
|
|
|
NM_000214.3(JAG1):c.546G>C (p.Gln182His)
|
rs2122623700
|
|
NM_000214.3(JAG1):c.54C>T (p.Leu18=)
|
|
|
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys)
|
rs121918350
|
|
NM_000214.3(JAG1):c.551G>A (p.Arg184His)
|
rs121918351
|
|
NM_000214.3(JAG1):c.552C>T (p.Arg184=)
|
|
|
NM_000214.3(JAG1):c.554T>A (p.Val185Glu)
|
rs2067393827
|
|
NM_000214.3(JAG1):c.558C>T (p.Thr186=)
|
rs776616206
|
|
NM_000214.3(JAG1):c.558_567del (p.Cys187fs)
|
rs2067393679
|
|
NM_000214.3(JAG1):c.559T>C (p.Cys187Arg)
|
|
|
NM_000214.3(JAG1):c.566A>G (p.Asp189Gly)
|
|
|
NM_000214.3(JAG1):c.568T>G (p.Tyr190Asp)
|
rs1242543124
|
|
NM_000214.3(JAG1):c.56C>T (p.Ala19Val)
|
rs886043988
|
|
NM_000214.3(JAG1):c.571T>C (p.Tyr191His)
|
|
|
NM_000214.3(JAG1):c.575A>G (p.Tyr192Cys)
|
rs2067393579
|
|
NM_000214.3(JAG1):c.578del (p.Gly193fs)
|
rs2067393549
|
|
NM_000214.3(JAG1):c.587_588delinsT (p.Cys196fs)
|
rs863223664
|
|
NM_000214.3(JAG1):c.588C>A (p.Cys196Ter)
|
rs1801138
|
|
NM_000214.3(JAG1):c.590A>C (p.Asn197Thr)
|
|
|
NM_000214.3(JAG1):c.590A>G (p.Asn197Ser)
|
rs2122623617
|
|
NM_000214.3(JAG1):c.596del (p.Phe199fs)
|
|
|
NM_000214.3(JAG1):c.59T>C (p.Leu20Pro)
|
rs1568807442
|
|
NM_000214.3(JAG1):c.5G>A (p.Arg2His)
|
|
|
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys)
|
rs794727618
|
|
NM_000214.3(JAG1):c.606C>T (p.Pro202=)
|
rs2122623600
|
|
NM_000214.3(JAG1):c.611A>G (p.Asp204Gly)
|
rs2122623598
|
|
NM_000214.3(JAG1):c.61C>G (p.Leu21Val)
|
|
|
NM_000214.3(JAG1):c.622G>T (p.Gly208Ter)
|
rs2122623590
|
|
NM_000214.3(JAG1):c.626A>G (p.His209Arg)
|
rs863223679
|
|
NM_000214.3(JAG1):c.627C>A (p.His209Gln)
|
|
|
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro)
|
rs876660977
|
|
NM_000214.3(JAG1):c.630T>C (p.Tyr210=)
|
|
|
NM_000214.3(JAG1):c.634T>C (p.Cys212Arg)
|
rs1555829660
|
|
NM_000214.3(JAG1):c.635G>A (p.Cys212Tyr)
|
|
|
NM_000214.3(JAG1):c.635G>C (p.Cys212Ser)
|
|
|
NM_000214.3(JAG1):c.636T>C (p.Cys212=)
|
rs1178684049
|
|
NM_000214.3(JAG1):c.644A>G (p.Asn215Ser)
|
|
|
NM_000214.3(JAG1):c.647G>T (p.Gly216Val)
|
|
|
NM_000214.3(JAG1):c.647del (p.Gly216fs)
|
|
|
NM_000214.3(JAG1):c.648dup (p.Asn217fs)
|
rs1131691963
|
|
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg)
|
rs1555831004
|
|
NM_000214.3(JAG1):c.650A>G (p.Asn217Ser)
|
|
|
NM_000214.3(JAG1):c.651C>A (p.Asn217Lys)
|
|
|
NM_000214.3(JAG1):c.655dup (p.Thr219fs)
|
rs2122623531
|
|
NM_000214.3(JAG1):c.659G>T (p.Cys220Phe)
|
|
|
NM_000214.3(JAG1):c.661A>G (p.Met221Val)
|
|
|
NM_000214.3(JAG1):c.664del (p.Glu222fs)
|
rs863223665
|
|
NM_000214.3(JAG1):c.665A>G (p.Glu222Gly)
|
|
|
NM_000214.3(JAG1):c.677G>A (p.Gly226Asp)
|
|
|
NM_000214.3(JAG1):c.677dup (p.Glu228fs)
|
rs2122623497
|
|
NM_000214.3(JAG1):c.67G>A (p.Ala23Thr)
|
|
|
NM_000214.3(JAG1):c.67G>T (p.Ala23Ser)
|
rs2067513128
|
|
NM_000214.3(JAG1):c.682G>T (p.Glu228Ter)
|
rs1286744339
|
|
NM_000214.3(JAG1):c.684A>G (p.Glu228=)
|
rs2122623475
|
|
NM_000214.3(JAG1):c.693_694del (p.Arg231fs)
|
rs876660978
|
|
NM_000214.3(JAG1):c.694+14T>C
|
|
|
NM_000214.3(JAG1):c.694+18C>A
|
|
|
NM_000214.3(JAG1):c.694+1G>A
|
rs876660979
|
|
NM_000214.3(JAG1):c.694+20T>A
|
|
|
NM_000214.3(JAG1):c.694+3_694+4del
|
rs1235111413
|
|
NM_000214.3(JAG1):c.694+4T>C
|
rs944996400
|
|
NM_000214.3(JAG1):c.694+4TG[6]
|
|
|
NM_000214.3(JAG1):c.694+4TG[8]
|
rs112693360
|
|
NM_000214.3(JAG1):c.694+80A>G
|
|
|
NM_000214.3(JAG1):c.695-10dup
|
rs762788344
|
|
NM_000214.3(JAG1):c.695-12T>A
|
rs886039498
|
|
NM_000214.3(JAG1):c.695-1G>C
|
|
|
NM_000214.3(JAG1):c.695-5del
|
rs762788344
|
|
NM_000214.3(JAG1):c.699_700del (p.Ile233fs)
|
|
|
NM_000214.3(JAG1):c.6T>G (p.Arg2=)
|
|
|
NM_000214.3(JAG1):c.700T>A (p.Cys234Ser)
|
rs1555829415
|
|
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr)
|
rs121918353
|
|
NM_000214.3(JAG1):c.702C>A (p.Cys234Ter)
|
|
|
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter)
|
rs876660980
|
|
NM_000214.3(JAG1):c.704G>A (p.Arg235Gln)
|
rs1245693208
|
|
NM_000214.3(JAG1):c.708A>G (p.Gln236=)
|
rs2067379739
|
|
NM_000214.3(JAG1):c.709G>A (p.Gly237Ser)
|
|
|
NM_000214.3(JAG1):c.711C>T (p.Gly237=)
|
rs1555829409
|
|
NM_000214.3(JAG1):c.712T>C (p.Cys238Arg)
|
|
|
NM_000214.3(JAG1):c.713G>A (p.Cys238Tyr)
|
rs2122620330
|
|
NM_000214.3(JAG1):c.715dup (p.Ser239fs)
|
|
|
NM_000214.3(JAG1):c.716G>A (p.Ser239Asn)
|
rs2067379682
|
|
NM_000214.3(JAG1):c.719C>T (p.Pro240Leu)
|
|
|
NM_000214.3(JAG1):c.71T>C (p.Leu24Pro)
|
rs1135401949
|
|
NM_000214.3(JAG1):c.723G>A (p.Lys241=)
|
rs2122620300
|
|
NM_000214.3(JAG1):c.725A>G (p.His242Arg)
|
|
|
NM_000214.3(JAG1):c.729G>A (p.Gly243=)
|
|
|
NM_000214.3(JAG1):c.733T>C (p.Cys245Arg)
|
rs2122620282
|
|
NM_000214.3(JAG1):c.734dup (p.Cys245fs)
|
rs2122620277
|
|
NM_000214.3(JAG1):c.73_74del (p.Arg25fs)
|
rs2067513100
|
|
NM_000214.3(JAG1):c.744A>T (p.Pro248=)
|
|
|
NM_000214.3(JAG1):c.74dup (p.Ala26fs)
|
|
|
NM_000214.3(JAG1):c.753C>A (p.Cys251Ter)
|
|
|
NM_000214.3(JAG1):c.755+113T>A
|
rs187074802
|
|
NM_000214.3(JAG1):c.755+13G>A
|
|
|
NM_000214.3(JAG1):c.755+18T>C
|
|
|
NM_000214.3(JAG1):c.755+6T>C
|
|
|
NM_000214.3(JAG1):c.755+9del
|
rs2122620228
|
|
NM_000214.3(JAG1):c.755G>A (p.Arg252Lys)
|
|
|
NM_000214.3(JAG1):c.756-16T>C
|
|
|
NM_000214.3(JAG1):c.756-1G>C
|
rs1568798388
|
|
NM_000214.3(JAG1):c.756-1G>T
|
rs1568798388
|
|
NM_000214.3(JAG1):c.756-83_780del
|
|
|
NM_000214.3(JAG1):c.757T>C (p.Cys253Arg)
|
rs2122615195
|
|
NM_000214.3(JAG1):c.760C>T (p.Gln254Ter)
|
|
|
NM_000214.3(JAG1):c.764_765inv (p.Tyr255Cys)
|
|
|
NM_000214.3(JAG1):c.765C>G (p.Tyr255Ter)
|
rs1131695
|
|
NM_000214.3(JAG1):c.76G>A (p.Ala26Thr)
|
rs2067513063
|
|
NM_000214.3(JAG1):c.771G>A (p.Trp257Ter)
|
|
|
NM_000214.3(JAG1):c.771G>T (p.Trp257Cys)
|
|
|
NM_000214.3(JAG1):c.772C>G (p.Gln258Glu)
|
rs1261155576
|
|
NM_000214.3(JAG1):c.775G>A (p.Gly259Ser)
|
|
|
NM_000214.3(JAG1):c.776G>A (p.Gly259Asp)
|
|
|
NM_000214.3(JAG1):c.776G>T (p.Gly259Val)
|
rs1568798363
|
|
NM_000214.3(JAG1):c.779T>C (p.Leu260Pro)
|
|
|
NM_000214.3(JAG1):c.77C>T (p.Ala26Val)
|
|
|
NM_000214.3(JAG1):c.783C>G (p.Tyr261Ter)
|
rs2122615158
|
|
NM_000214.3(JAG1):c.785G>A (p.Cys262Tyr)
|
|
|
NM_000214.3(JAG1):c.789_791del (p.Asp263_Lys264delinsGlu)
|
|
|
NM_000214.3(JAG1):c.793T>G (p.Cys265Gly)
|
|
|
NM_000214.3(JAG1):c.795C>A (p.Cys265Ter)
|
|
|
NM_000214.3(JAG1):c.797del (p.Ile266fs)
|
rs863223668
|
|
NM_000214.3(JAG1):c.798C>T (p.Ile266=)
|
rs2122615138
|
|
NM_000214.3(JAG1):c.7dup (p.Ser3fs)
|
rs863223662
|
|
NM_000214.3(JAG1):c.805C>T (p.Pro269Ser)
|
|
|
NM_000214.3(JAG1):c.806C>T (p.Pro269Leu)
|
rs797044956
|
|
NM_000214.3(JAG1):c.807G>C (p.Pro269=)
|
rs753646278
|
|
NM_000214.3(JAG1):c.81+17G>A
|
rs1249688328
|
|
NM_000214.3(JAG1):c.81+1G>A
|
rs876661066
|
|
NM_000214.3(JAG1):c.81+8C>A
|
|
|
NM_000214.3(JAG1):c.813C>G (p.Cys271Trp)
|
rs766245856
|
|
NM_000214.3(JAG1):c.813C>T (p.Cys271=)
|
|
|
NM_000214.3(JAG1):c.815T>A (p.Val272Asp)
|
|
|
NM_000214.3(JAG1):c.82-161del
|
rs33929314
|
|
NM_000214.3(JAG1):c.82-16C>T
|
|
|
NM_000214.3(JAG1):c.82-175dup
|
rs33929314
|
|
NM_000214.3(JAG1):c.82-19C>T
|
rs2067508451
|
|
NM_000214.3(JAG1):c.82-1G>C
|
rs2067508256
|
|
NM_000214.3(JAG1):c.82-25ACCT[3]
|
|
|
NM_000214.3(JAG1):c.82-2A>G
|
rs1568807161
|
|
NM_000214.3(JAG1):c.82-5G>T
|
|
|
NM_000214.3(JAG1):c.82-9C>T
|
|
|
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser)
|
rs2122615095
|
|
NM_000214.3(JAG1):c.820G>T (p.Gly274Cys)
|
rs2122615095
|
|
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp)
|
rs28939668
|
|
NM_000214.3(JAG1):c.822C>T (p.Gly274=)
|
|
|
NM_000214.3(JAG1):c.826T>C (p.Cys276Arg)
|
rs2067354186
|
|
NM_000214.3(JAG1):c.830A>G (p.Asn277Ser)
|
|
|
NM_000214.3(JAG1):c.831T>C (p.Asn277=)
|
rs2122615074
|
|
NM_000214.3(JAG1):c.837C>A (p.Pro279=)
|
|
|
NM_000214.3(JAG1):c.838T>G (p.Trp280Gly)
|
|
|
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter)
|
rs886043603
|
|
NM_000214.3(JAG1):c.84G>A (p.Val28=)
|
|
|
NM_000214.3(JAG1):c.850T>C (p.Cys284Arg)
|
|
|
NM_000214.3(JAG1):c.851G>A (p.Cys284Tyr)
|
|
|
NM_000214.3(JAG1):c.851G>C (p.Cys284Ser)
|
rs1555829067
|
|
NM_000214.3(JAG1):c.851G>T (p.Cys284Phe)
|
rs1555829067
|
|
NM_000214.3(JAG1):c.852_853del (p.Cys284_Glu285delinsTer)
|
rs1568798289
|
|
NM_000214.3(JAG1):c.863G>A (p.Trp288Ter)
|
rs1064796702
|
|
NM_000214.3(JAG1):c.864G>A (p.Trp288Ter)
|
|
|
NM_000214.3(JAG1):c.866G>A (p.Gly289Asp)
|
|
|
NM_000214.3(JAG1):c.866G>T (p.Gly289Val)
|
rs2122615016
|
|
NM_000214.3(JAG1):c.86G>C (p.Cys29Ser)
|
rs1434161643
|
|
NM_000214.3(JAG1):c.870C>T (p.Gly290=)
|
rs529032883
|
|
NM_000214.3(JAG1):c.871C>T (p.Gln291Ter)
|
rs876661096
|
|
NM_000214.3(JAG1):c.872A>T (p.Gln291Leu)
|
rs2122614980
|
|
NM_000214.3(JAG1):c.878G>A (p.Cys293Tyr)
|
rs1568798248
|
|
NM_000214.3(JAG1):c.87T>A (p.Cys29Ter)
|
|
|
NM_000214.3(JAG1):c.882C>A (p.Asp294Glu)
|
rs2122614970
|
|
NM_000214.3(JAG1):c.886+15del
|
rs2122614945
|
|
NM_000214.3(JAG1):c.886+1G>A
|
rs1600186024
|
|
NM_000214.3(JAG1):c.886+3A>G
|
rs1555829065
|
|
NM_000214.3(JAG1):c.886+5G>A
|
rs1173329664
|
|
NM_000214.3(JAG1):c.887-15G>C
|
rs777025518
|
|
NM_000214.3(JAG1):c.887-16A>G
|
|
|
NM_000214.3(JAG1):c.887-17C>T
|
|
|
NM_000214.3(JAG1):c.887-20C>T
|
|
|
NM_000214.3(JAG1):c.887-4G>A
|
rs2067352017
|
|
NM_000214.3(JAG1):c.891C>T (p.Leu297=)
|
|
|
NM_000214.3(JAG1):c.89G>A (p.Gly30Glu)
|
|
|
NM_000214.3(JAG1):c.903dup (p.Thr302fs)
|
rs2122614562
|
|
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter)
|
rs863223649
|
|
NM_000214.3(JAG1):c.912del (p.Gln304fs)
|
|
|
NM_000214.3(JAG1):c.920T>C (p.Leu307Pro)
|
|
|
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg)
|
rs750195672
|
|
NM_000214.3(JAG1):c.925G>T (p.Gly309Trp)
|
|
|
NM_000214.3(JAG1):c.927G>A (p.Gly309=)
|
|
|
NM_000214.3(JAG1):c.927G>T (p.Gly309=)
|
|
|
NM_000214.3(JAG1):c.929del (p.Gly310fs)
|
rs1555829039
|
|
NM_000214.3(JAG1):c.932del (p.Thr311fs)
|
rs1555829037
|
|
NM_000214.3(JAG1):c.933T>C (p.Thr311=)
|
|
|
NM_000214.3(JAG1):c.936T>A (p.Cys312Ter)
|
rs2122614453
|
|
NM_000214.3(JAG1):c.939C>T (p.Ser313=)
|
|
|
NM_000214.3(JAG1):c.941del (p.Asn314fs)
|
|
|
NM_000214.3(JAG1):c.945A>G (p.Thr315=)
|
rs1158585077
|
|
NM_000214.3(JAG1):c.958T>C (p.Tyr320His)
|
rs2122614423
|
|
NM_000214.3(JAG1):c.95C>A (p.Ser32Ter)
|
rs2122644940
|
|
NM_000214.3(JAG1):c.962A>G (p.Gln321Arg)
|
rs2067351426
|
|
NM_000214.3(JAG1):c.962_964dup (p.Cys322Ter)
|
rs1600185804
|
|
NM_000214.3(JAG1):c.974_975del (p.Pro325fs)
|
rs863223669
|
|
NM_000214.3(JAG1):c.97G>A (p.Gly33Ser)
|
rs876661123
|
|
NM_000214.3(JAG1):c.980G>C (p.Gly327Ala)
|
|
|
NM_000214.3(JAG1):c.983_984insGGTCCTGCCCTGAGG (p.Tyr328Ter)
|
|
|
NM_000214.3(JAG1):c.984T>G (p.Tyr328Ter)
|
rs2122614368
|
|
NM_000214.3(JAG1):c.986C>A (p.Ser329Ter)
|
rs1568798024
|
|
NM_000214.3(JAG1):c.98G>T (p.Gly33Val)
|
rs2122644925
|
|
NM_000214.3(JAG1):c.992C>A (p.Pro331His)
|
rs886044339
|
|
NM_000214.3(JAG1):c.994A>T (p.Asn332Tyr)
|
|
|
NM_000214.3(JAG1):c.998G>A (p.Cys333Tyr)
|
rs2122614331
|
|