NM_000214.3(JAG1):c.756-67A>G
|
rs6040055
|
0.66772
|
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.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.3199+218G>A
|
rs6040050
|
0.24704
|
NM_000214.3(JAG1):c.82-85C>T
|
rs62185096
|
0.22775
|
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.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.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.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.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.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.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.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.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.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.2604T>C (p.Ser868=)
|
rs138189639
|
0.00032
|
NM_000214.3(JAG1):c.82G>C (p.Val28Leu)
|
rs142855305
|
0.00031
|
NM_000214.3(JAG1):c.2043G>A (p.Thr681=)
|
rs151291264
|
0.00029
|
NM_000214.3(JAG1):c.1569+47C>T
|
rs184530396
|
0.00028
|
NM_000214.3(JAG1):c.414G>A (p.Ala138=)
|
rs371682149
|
0.00026
|
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.1628G>A (p.Arg543His)
|
rs544877858
|
0.00016
|
NM_000214.3(JAG1):c.2596A>G (p.Met866Val)
|
rs746108409
|
0.00016
|
NM_000214.3(JAG1):c.3048+49C>T
|
rs139092361
|
0.00016
|
NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln)
|
rs139629694
|
0.00015
|
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.3467T>C (p.Val1156Ala)
|
rs143966918
|
0.00014
|
NM_000214.3(JAG1):c.694+26C>T
|
rs377623653
|
0.00014
|
NM_000214.3(JAG1):c.526G>A (p.Val176Ile)
|
rs199674138
|
0.00013
|
NM_000214.3(JAG1):c.1146C>T (p.Asn382=)
|
rs200133928
|
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.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.1062C>T (p.Thr354=)
|
rs201234509
|
0.00007
|
NM_000214.3(JAG1):c.1344C>T (p.Asp448=)
|
rs754081766
|
0.00007
|
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)
|
rs150295026
|
0.00007
|
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.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.2877G>A (p.Ala959=)
|
rs142085300
|
0.00006
|
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=)
|
rs754593633
|
0.00006
|
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met)
|
rs148373907
|
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.1464C>T (p.Ile488=)
|
rs374629171
|
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.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.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.1865C>T (p.Thr622Met)
|
rs764089304
|
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.3560A>G (p.Asn1187Ser)
|
rs755420729
|
0.00004
|
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=)
|
rs542831744
|
0.00004
|
NM_000214.3(JAG1):c.*9G>A
|
rs372620326
|
0.00003
|
NM_000214.3(JAG1):c.105C>T (p.Phe35=)
|
rs765442930
|
0.00003
|
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu)
|
rs770377023
|
0.00003
|
NM_000214.3(JAG1):c.2114-18T>C
|
rs766999933
|
0.00003
|
NM_000214.3(JAG1):c.3038A>T (p.His1013Leu)
|
rs758687380
|
0.00003
|
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp)
|
rs768554175
|
0.00003
|
NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn)
|
rs755047447
|
0.00003
|
NM_000214.3(JAG1):c.494G>A (p.Arg165Gln)
|
rs779793192
|
0.00003
|
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.1443C>T (p.Gly481=)
|
rs879921003
|
0.00002
|
NM_000214.3(JAG1):c.1707G>A (p.Thr569=)
|
rs745608068
|
0.00002
|
NM_000214.3(JAG1):c.2049C>T (p.Arg683=)
|
rs1389234825
|
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+9A>G
|
rs763616526
|
0.00002
|
NM_000214.3(JAG1):c.2498C>T (p.Ala833Val)
|
rs141292792
|
0.00002
|
NM_000214.3(JAG1):c.2739C>T (p.Ser913=)
|
rs766479402
|
0.00002
|
NM_000214.3(JAG1):c.3001G>A (p.Ala1001Thr)
|
rs200593413
|
0.00002
|
NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile)
|
rs781429347
|
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.*7G>A
|
rs879800923
|
0.00001
|
NM_000214.3(JAG1):c.1101C>T (p.Thr367=)
|
rs766771784
|
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.1308C>T (p.Cys436=)
|
rs764485729
|
0.00001
|
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)
|
rs534533867
|
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.1444G>A (p.Asp482Asn)
|
rs766370717
|
0.00001
|
NM_000214.3(JAG1):c.1575C>T (p.Asp525=)
|
rs1555828589
|
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.1704C>T (p.Arg568=)
|
rs144985667
|
0.00001
|
NM_000214.3(JAG1):c.1866G>A (p.Thr622=)
|
rs140624746
|
0.00001
|
NM_000214.3(JAG1):c.1971C>T (p.Asp657=)
|
rs368661822
|
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.2148C>T (p.Asn716=)
|
rs550565756
|
0.00001
|
NM_000214.3(JAG1):c.2227+38G>A
|
rs766582194
|
0.00001
|
NM_000214.3(JAG1):c.2305G>A (p.Val769Ile)
|
rs754301929
|
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.2393T>A (p.Val798Glu)
|
rs1308346607
|
0.00001
|
NM_000214.3(JAG1):c.2413C>T (p.Arg805Trp)
|
rs1458651228
|
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.2451C>T (p.Cys817=)
|
rs747532570
|
0.00001
|
NM_000214.3(JAG1):c.2502C>T (p.Thr834=)
|
rs779052259
|
0.00001
|
NM_000214.3(JAG1):c.2559C>T (p.Ala853=)
|
rs201234393
|
0.00001
|
NM_000214.3(JAG1):c.2671G>A (p.Ala891Thr)
|
rs1454234098
|
0.00001
|
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile)
|
rs770415804
|
0.00001
|
NM_000214.3(JAG1):c.2859T>C (p.Tyr953=)
|
rs1388481192
|
0.00001
|
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val)
|
rs773974344
|
0.00001
|
NM_000214.3(JAG1):c.3048+20A>G
|
rs924322585
|
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.3291G>C (p.Arg1097=)
|
rs1600177787
|
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.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.448A>G (p.Ser150Gly)
|
rs1229047867
|
0.00001
|
NM_000214.3(JAG1):c.573C>T (p.Tyr191=)
|
rs766426780
|
0.00001
|
NM_000214.3(JAG1):c.694+1G>T
|
rs876660979
|
0.00001
|
NM_000214.3(JAG1):c.702C>T (p.Cys234=)
|
rs202109974
|
0.00001
|
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser)
|
rs768317581
|
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.994A>G (p.Asn332Asp)
|
rs562158374
|
0.00001
|
NC_000020.11:g.10674180C>T
|
rs140761913
|
|
NM_000214.2(JAG1):c.358dup (p.Ile120Asnfs)
|
rs1555830922
|
|
NM_000214.3(JAG1):c.*1531TG[1]
|
rs765273169
|
|
NM_000214.3(JAG1):c.*959GTTT[2]
|
rs748163677
|
|
NM_000214.3(JAG1):c.-299AAG[1]
|
rs147400796
|
|
NM_000214.3(JAG1):c.-386dup
|
rs886056519
|
|
NM_000214.3(JAG1):c.-458C>T
|
rs146416672
|
|
NM_000214.3(JAG1):c.-6_24del (p.Met1_Gly8del)
|
rs863223661
|
|
NM_000214.3(JAG1):c.1000G>A (p.Glu334Lys)
|
|
|
NM_000214.3(JAG1):c.1006+7G>C
|
rs762379208
|
|
NM_000214.3(JAG1):c.100C>T (p.Gln34Ter)
|
rs1555830976
|
|
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro)
|
rs1555830973
|
|
NM_000214.3(JAG1):c.1037_1056dup (p.Glu353fs)
|
rs886043451
|
|
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.1082_1083del (p.Glu361fs)
|
rs876661111
|
|
NM_000214.3(JAG1):c.1138_1140del (p.Pro380del)
|
|
|
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg)
|
rs863223650
|
|
NM_000214.3(JAG1):c.1198_1199dup (p.Pro401fs)
|
rs1555828843
|
|
NM_000214.3(JAG1):c.1205dup (p.Gln403fs)
|
rs35615084
|
|
NM_000214.3(JAG1):c.1207C>T (p.Gln403Ter)
|
rs794727953
|
|
NM_000214.3(JAG1):c.1218_1219insGA (p.Lys407fs)
|
rs886044604
|
|
NM_000214.3(JAG1):c.1228C>T (p.Gln410Ter)
|
rs2122611488
|
|
NM_000214.3(JAG1):c.1264G>A (p.Val422Ile)
|
|
|
NM_000214.3(JAG1):c.1307G>A (p.Cys436Tyr)
|
rs1568796900
|
|
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.1339T>C (p.Cys447Arg)
|
rs863223651
|
|
NM_000214.3(JAG1):c.1346_1347del (p.Ile449fs)
|
rs1555828770
|
|
NM_000214.3(JAG1):c.1349-59A>C
|
rs184110582
|
|
NM_000214.3(JAG1):c.1352T>A (p.Ile451Asn)
|
rs1178459436
|
|
NM_000214.3(JAG1):c.1375C>A (p.Gln459Lys)
|
rs1289016419
|
|
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp)
|
rs937263997
|
|
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.1396-27TC[6]
|
rs544547916
|
|
NM_000214.3(JAG1):c.1396-2A>G
|
rs1568796298
|
|
NM_000214.3(JAG1):c.1396-82C>T
|
rs45498692
|
|
NM_000214.3(JAG1):c.1430C>T (p.Pro477Leu)
|
rs1555828655
|
|
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer)
|
rs1568796236
|
|
NM_000214.3(JAG1):c.1459_1460insGA (p.Asp487fs)
|
rs1555828652
|
|
NM_000214.3(JAG1):c.1473_1474del (p.Ala492fs)
|
|
|
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs)
|
rs876660981
|
|
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.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.1556G>C (p.Gly519Ala)
|
rs747241413
|
|
NM_000214.3(JAG1):c.1569+68T>G
|
rs34325313
|
|
NM_000214.3(JAG1):c.1570-73C>G
|
rs56039205
|
|
NM_000214.3(JAG1):c.1615C>T (p.Gln539Ter)
|
rs1555828577
|
|
NM_000214.3(JAG1):c.1680C>A (p.Cys560Ter)
|
rs886041868
|
|
NM_000214.3(JAG1):c.1689G>A (p.Leu563=)
|
rs930662596
|
|
NM_000214.3(JAG1):c.1716_1717del (p.Cys572_Glu573delinsTer)
|
rs876661126
|
|
NM_000214.3(JAG1):c.1720+172G>T
|
rs143716483
|
|
NM_000214.3(JAG1):c.1720+1del
|
rs886044349
|
|
NM_000214.3(JAG1):c.1721-223TG[2]
|
rs3830831
|
|
NM_000214.3(JAG1):c.173_176del (p.Ala58fs)
|
rs886043130
|
|
NM_000214.3(JAG1):c.1747G>A (p.Ala583Thr)
|
|
|
NM_000214.3(JAG1):c.1748C>T (p.Ala583Val)
|
rs1568795311
|
|
NM_000214.3(JAG1):c.1755C>G (p.Asn585Lys)
|
rs142808131
|
|
NM_000214.3(JAG1):c.1890del (p.Asn631fs)
|
|
|
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer)
|
rs1555828321
|
|
NM_000214.3(JAG1):c.18G>C (p.Thr6=)
|
|
|
NM_000214.3(JAG1):c.192dup (p.Lys65fs)
|
rs863223666
|
|
NM_000214.3(JAG1):c.1946_1951delinsCTCC (p.Asn649fs)
|
rs863223682
|
|
NM_000214.3(JAG1):c.1955dup (p.Cys653fs)
|
rs2122604461
|
|
NM_000214.3(JAG1):c.197G>A (p.Cys66Tyr)
|
rs767480908
|
|
NM_000214.3(JAG1):c.2000-190_2000-188dup
|
rs55752058
|
|
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.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.2076C>A (p.Asp692Glu)
|
rs2067301920
|
|
NM_000214.3(JAG1):c.2078G>A (p.Cys693Tyr)
|
rs566563238
|
|
NM_000214.3(JAG1):c.2080A>T (p.Lys694Ter)
|
rs876661142
|
|
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs)
|
rs886039393
|
|
NM_000214.3(JAG1):c.2106C>A (p.Cys702Ter)
|
rs863223680
|
|
NM_000214.3(JAG1):c.2113+5G>A
|
rs886044704
|
|
NM_000214.3(JAG1):c.2118_2119del (p.Asp706fs)
|
rs1568794159
|
|
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.2173dup (p.Asp725fs)
|
rs1568794128
|
|
NM_000214.3(JAG1):c.2225_2226del (p.Ile742fs)
|
rs1555828209
|
|
NM_000214.3(JAG1):c.2227+50G>C
|
rs540429229
|
|
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.2257dup (p.Cys753fs)
|
rs863223672
|
|
NM_000214.3(JAG1):c.2264A>G (p.Asn755Ser)
|
rs2122602452
|
|
NM_000214.3(JAG1):c.2268_2270del (p.Gly757del)
|
|
|
NM_000214.3(JAG1):c.2270dup (p.Thr758fs)
|
rs886043605
|
|
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.2322G>A (p.Trp774Ter)
|
rs1555828173
|
|
NM_000214.3(JAG1):c.233G>A (p.Cys78Tyr)
|
rs1555830957
|
|
NM_000214.3(JAG1):c.2345-1G>A
|
rs1568793670
|
|
NM_000214.3(JAG1):c.2345-8_2345-6del
|
rs1396652277
|
|
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+15C>T
|
rs748962378
|
|
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+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.23G>A (p.Gly8Asp)
|
rs993238320
|
|
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter)
|
rs533306015
|
|
NM_000214.3(JAG1):c.2418del (p.Cys806fs)
|
rs876661165
|
|
NM_000214.3(JAG1):c.2424T>A (p.Cys808Ter)
|
rs1568793265
|
|
NM_000214.3(JAG1):c.2458+10G>C
|
rs778204780
|
|
NM_000214.3(JAG1):c.2458+124G>T
|
rs2122600197
|
|
NM_000214.3(JAG1):c.2458+2_2458+5del
|
rs1568793232
|
|
NM_000214.3(JAG1):c.2459-89T>G
|
rs2122598806
|
|
NM_000214.3(JAG1):c.2465del (p.Asn822fs)
|
rs863223673
|
|
NM_000214.3(JAG1):c.2522G>A (p.Gly841Asp)
|
rs1568792702
|
|
NM_000214.3(JAG1):c.2530_2552delinsGCACAT (p.Cys844fs)
|
rs1600179847
|
|
NM_000214.3(JAG1):c.2538C>A (p.Cys846Ter)
|
|
|
NM_000214.3(JAG1):c.2566C>T (p.Gln856Ter)
|
rs876661061
|
|
NM_000214.3(JAG1):c.2573-294C>A
|
rs73075341
|
|
NM_000214.3(JAG1):c.2601_2603delinsTGATGCA (p.Ser868fs)
|
rs1568792344
|
|
NM_000214.3(JAG1):c.2619_2620del (p.Ala874fs)
|
rs863223674
|
|
NM_000214.3(JAG1):c.262G>A (p.Ala88Thr)
|
|
|
NM_000214.3(JAG1):c.2640del (p.Asp879_Cys880insTer)
|
rs1085307595
|
|
NM_000214.3(JAG1):c.2653T>C (p.Cys885Arg)
|
rs1568792271
|
|
NM_000214.3(JAG1):c.2682+1G>T
|
rs1568792238
|
|
NM_000214.3(JAG1):c.2682+8A>G
|
rs560065330
|
|
NM_000214.3(JAG1):c.2689_2693del (p.Cys897fs)
|
rs1555827790
|
|
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter)
|
rs1555827789
|
|
NM_000214.3(JAG1):c.269_270del (p.Gly90fs)
|
rs863223667
|
|
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.270dup (p.Pro91fs)
|
rs863223667
|
|
NM_000214.3(JAG1):c.2727_2728dup (p.Glu910fs)
|
rs1600179237
|
|
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.2743C>T (p.Gln915Ter)
|
rs1568792125
|
|
NM_000214.3(JAG1):c.2750G>C (p.Cys917Ser)
|
|
|
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp)
|
rs1568792060
|
|
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.2830del (p.Pro943_Val944insTer)
|
rs1555827760
|
|
NM_000214.3(JAG1):c.2916+18dup
|
rs3215563
|
|
NM_000214.3(JAG1):c.2916+27del
|
rs3215563
|
|
NM_000214.3(JAG1):c.2924_2925dup (p.Thr976fs)
|
rs863223683
|
|
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.2966dup (p.Leu989fs)
|
rs1555827729
|
|
NM_000214.3(JAG1):c.2968A>T (p.Lys990Ter)
|
rs876661182
|
|
NM_000214.3(JAG1):c.2996A>C (p.Tyr999Ser)
|
rs1555827726
|
|
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.3009_3025dup (p.Asn1009fs)
|
rs1555827717
|
|
NM_000214.3(JAG1):c.301G>C (p.Val101Leu)
|
rs1600196349
|
|
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.3062del (p.Ile1021fs)
|
rs876661095
|
|
NM_000214.3(JAG1):c.3067del (p.Asp1023fs)
|
rs863223677
|
|
NM_000214.3(JAG1):c.307G>C (p.Gly103Arg)
|
rs749591256
|
|
NM_000214.3(JAG1):c.3097G>C (p.Asp1033His)
|
rs772228887
|
|
NM_000214.3(JAG1):c.30del (p.Arg12fs)
|
rs1568807483
|
|
NM_000214.3(JAG1):c.311del (p.Gly104fs)
|
rs886041782
|
|
NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn)
|
rs1278689263
|
|
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.3164_3167del (p.Val1055fs)
|
rs1555827653
|
|
NM_000214.3(JAG1):c.3165_3184del (p.Arg1056fs)
|
rs1568791393
|
|
NM_000214.3(JAG1):c.3213dup (p.Leu1073fs)
|
rs1568791022
|
|
NM_000214.3(JAG1):c.3230T>G (p.Leu1077Ter)
|
|
|
NM_000214.3(JAG1):c.3245_3257del (p.Ile1082fs)
|
rs2067258421
|
|
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.3309A>C (p.Thr1103=)
|
rs1259778353
|
|
NM_000214.3(JAG1):c.3318C>T (p.Ala1106=)
|
rs751836991
|
|
NM_000214.3(JAG1):c.3351G>C (p.Glu1117Asp)
|
rs1568790865
|
|
NM_000214.3(JAG1):c.349dup (p.Arg117fs)
|
rs886041727
|
|
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.3538G>A (p.Asp1180Asn)
|
|
|
NM_000214.3(JAG1):c.3557C>T (p.Pro1186Leu)
|
|
|
NM_000214.3(JAG1):c.3564C>T (p.Gly1188=)
|
|
|
NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter)
|
rs769276255
|
|
NM_000214.3(JAG1):c.3648C>A (p.Tyr1216Ter)
|
|
|
NM_000214.3(JAG1):c.36C>A (p.Arg12=)
|
rs886042810
|
|
NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter)
|
rs886039724
|
|
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+1G>T
|
|
|
NM_000214.3(JAG1):c.387+2T>C
|
rs1555830919
|
|
NM_000214.3(JAG1):c.388-10T>A
|
rs1568803400
|
|
NM_000214.3(JAG1):c.390dup (p.Ser131fs)
|
rs886044111
|
|
NM_000214.3(JAG1):c.391T>C (p.Ser131Pro)
|
|
|
NM_000214.3(JAG1):c.3G>A (p.Met1Ile)
|
rs1555831014
|
|
NM_000214.3(JAG1):c.41del (p.Leu14fs)
|
rs1568807463
|
|
NM_000214.3(JAG1):c.438_439+2del
|
rs2122632102
|
|
NM_000214.3(JAG1):c.439+1G>A
|
rs863223648
|
|
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter)
|
rs886043606
|
|
NM_000214.3(JAG1):c.440-22T>G
|
rs776924226
|
|
NM_000214.3(JAG1):c.440-3T>C
|
rs1292445129
|
|
NM_000214.3(JAG1):c.459_460insT (p.Lys154Ter)
|
rs1568801096
|
|
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.474G>C (p.Ser158=)
|
rs555794483
|
|
NM_000214.3(JAG1):c.488C>G (p.Pro163Arg)
|
rs1555829676
|
|
NM_000214.3(JAG1):c.500G>A (p.Trp167Ter)
|
rs1568801068
|
|
NM_000214.3(JAG1):c.537dup (p.Glu180Ter)
|
rs863223663
|
|
NM_000214.3(JAG1):c.544C>T (p.Gln182Ter)
|
rs863223678
|
|
NM_000214.3(JAG1):c.546G>C (p.Gln182His)
|
rs2122623700
|
|
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.56C>T (p.Ala19Val)
|
rs886043988
|
|
NM_000214.3(JAG1):c.571T>C (p.Tyr191His)
|
|
|
NM_000214.3(JAG1):c.587_588delinsT (p.Cys196fs)
|
rs863223664
|
|
NM_000214.3(JAG1):c.59T>C (p.Leu20Pro)
|
rs1568807442
|
|
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys)
|
rs794727618
|
|
NM_000214.3(JAG1):c.611A>G (p.Asp204Gly)
|
rs2122623598
|
|
NM_000214.3(JAG1):c.622G>T (p.Gly208Ter)
|
rs2122623590
|
|
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro)
|
rs876660977
|
|
NM_000214.3(JAG1):c.648dup (p.Asn217fs)
|
rs1131691963
|
|
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg)
|
rs1555831004
|
|
NM_000214.3(JAG1):c.664del (p.Glu222fs)
|
rs863223665
|
|
NM_000214.3(JAG1):c.693_694del (p.Arg231fs)
|
rs876660978
|
|
NM_000214.3(JAG1):c.694+1G>A
|
rs876660979
|
|
NM_000214.3(JAG1):c.695-10dup
|
rs762788344
|
|
NM_000214.3(JAG1):c.695-12T>A
|
rs886039498
|
|
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter)
|
rs876660980
|
|
NM_000214.3(JAG1):c.711C>T (p.Gly237=)
|
rs1555829409
|
|
NM_000214.3(JAG1):c.712T>C (p.Cys238Arg)
|
|
|
NM_000214.3(JAG1):c.755+113T>A
|
rs187074802
|
|
NM_000214.3(JAG1):c.755G>A (p.Arg252Lys)
|
|
|
NM_000214.3(JAG1):c.756-1G>T
|
rs1568798388
|
|
NM_000214.3(JAG1):c.765C>G (p.Tyr255Ter)
|
rs1131695
|
|
NM_000214.3(JAG1):c.771G>A (p.Trp257Ter)
|
|
|
NM_000214.3(JAG1):c.776G>A (p.Gly259Asp)
|
|
|
NM_000214.3(JAG1):c.776G>T (p.Gly259Val)
|
rs1568798363
|
|
NM_000214.3(JAG1):c.797del (p.Ile266fs)
|
rs863223668
|
|
NM_000214.3(JAG1):c.7dup (p.Ser3fs)
|
rs863223662
|
|
NM_000214.3(JAG1):c.807G>C (p.Pro269=)
|
rs753646278
|
|
NM_000214.3(JAG1):c.81+1G>A
|
rs876661066
|
|
NM_000214.3(JAG1):c.813C>G (p.Cys271Trp)
|
rs766245856
|
|
NM_000214.3(JAG1):c.82-161del
|
rs33929314
|
|
NM_000214.3(JAG1):c.82-175dup
|
rs33929314
|
|
NM_000214.3(JAG1):c.82-2A>G
|
rs1568807161
|
|
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser)
|
rs2122615095
|
|
NM_000214.3(JAG1):c.830A>G (p.Asn277Ser)
|
|
|
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter)
|
rs886043603
|
|
NM_000214.3(JAG1):c.851G>C (p.Cys284Ser)
|
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.871C>T (p.Gln291Ter)
|
rs876661096
|
|
NM_000214.3(JAG1):c.886+3A>G
|
rs1555829065
|
|
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter)
|
rs863223649
|
|
NM_000214.3(JAG1):c.929del (p.Gly310fs)
|
rs1555829039
|
|
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.986C>A (p.Ser329Ter)
|
rs1568798024
|
|
NM_000214.3(JAG1):c.992C>A (p.Pro331His)
|
rs886044339
|
|
NM_000214.3(JAG1):c.998G>A (p.Cys333Tyr)
|
rs2122614331
|
|