NM_001040716.2(PC):c.2224-9T>G
|
rs45560936
|
0.03311
|
NM_001040716.2(PC):c.2580C>T (p.Asp860=)
|
rs45584036
|
0.01323
|
NM_001040716.2(PC):c.2619C>T (p.Asn873=)
|
rs2229745
|
0.01182
|
NM_001040716.2(PC):c.2249C>T (p.Thr750Met)
|
rs145400751
|
0.00662
|
NM_001040716.2(PC):c.2682T>C (p.Tyr894=)
|
rs56705397
|
0.00598
|
NM_001040716.2(PC):c.85G>A (p.Val29Ile)
|
rs45471099
|
0.00394
|
NM_001040716.2(PC):c.321+5G>A
|
rs200766019
|
0.00264
|
NM_001040716.2(PC):c.1608G>A (p.Pro536=)
|
rs139074169
|
0.00210
|
NM_001040716.2(PC):c.1344G>A (p.Ala448=)
|
rs148281644
|
0.00158
|
NM_001040716.2(PC):c.2223+19C>T
|
rs45457699
|
0.00153
|
NM_001040716.2(PC):c.951C>T (p.His317=)
|
rs142309583
|
0.00147
|
NM_001040716.2(PC):c.616G>T (p.Val206Leu)
|
rs147945506
|
0.00126
|
NM_001040716.2(PC):c.*89G>A
|
rs186152567
|
0.00123
|
NM_001040716.2(PC):c.1604-17G>A
|
rs79317761
|
0.00103
|
NM_001040716.2(PC):c.1513+13del
|
rs755170894
|
0.00099
|
NM_001040716.2(PC):c.3342G>A (p.Ala1114=)
|
rs141978731
|
0.00088
|
NM_001040716.2(PC):c.52C>A (p.Arg18=)
|
rs144583275
|
0.00086
|
NM_001040716.2(PC):c.904-17C>T
|
rs199565222
|
0.00083
|
NM_001040716.2(PC):c.2550C>T (p.Cys850=)
|
rs61749179
|
0.00080
|
NM_001040716.2(PC):c.2856C>T (p.Ile952=)
|
rs183661331
|
0.00065
|
NM_001040716.2(PC):c.496G>A (p.Val166Ile)
|
rs147697454
|
0.00060
|
NM_001040716.2(PC):c.216G>A (p.Thr72=)
|
rs117711892
|
0.00058
|
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
NM_001040716.2(PC):c.2319C>T (p.His773=)
|
rs201257475
|
0.00052
|
NM_001040716.2(PC):c.2718+9G>A
|
rs201942341
|
0.00051
|
NM_001040716.2(PC):c.3391G>A (p.Val1131Met)
|
rs116518022
|
0.00051
|
NM_001040716.2(PC):c.486G>A (p.Ala162=)
|
rs142416378
|
0.00041
|
NM_001040716.2(PC):c.3258C>G (p.Ser1086=)
|
rs138238125
|
0.00039
|
NM_001040716.2(PC):c.2898+20G>A
|
rs144273133
|
0.00038
|
NM_001040716.2(PC):c.3147+15C>T
|
rs371879809
|
0.00038
|
NM_001040716.2(PC):c.1551C>T (p.Pro517=)
|
rs140746469
|
0.00031
|
NM_001040716.2(PC):c.3198C>T (p.Ser1066=)
|
rs144087445
|
0.00031
|
NM_001040716.2(PC):c.2577G>A (p.Ser859=)
|
rs199879375
|
0.00029
|
NM_001040716.2(PC):c.1401C>T (p.Asn467=)
|
rs45623237
|
0.00028
|
NM_001040716.2(PC):c.*15G>A
|
rs45501894
|
0.00027
|
NM_001040716.2(PC):c.2325G>A (p.Thr775=)
|
rs371093155
|
0.00026
|
NM_001040716.2(PC):c.2748C>T (p.Asp916=)
|
rs149689543
|
0.00025
|
NM_001040716.2(PC):c.715A>G (p.Ile239Val)
|
rs148805312
|
0.00024
|
NM_001040716.2(PC):c.*373C>T
|
rs189863040
|
0.00021
|
NM_001040716.2(PC):c.1446C>T (p.Asp482=)
|
rs145891535
|
0.00021
|
NM_001040716.2(PC):c.*353A>G
|
rs557595819
|
0.00019
|
NM_001040716.2(PC):c.1266C>T (p.Tyr422=)
|
rs141324828
|
0.00019
|
NM_001040716.2(PC):c.1683G>A (p.Pro561=)
|
rs113071273
|
0.00019
|
NM_001040716.2(PC):c.2000A>C (p.Lys667Thr)
|
rs138760063
|
0.00019
|
NM_001040716.2(PC):c.89G>A (p.Arg30Gln)
|
rs199616332
|
0.00019
|
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala)
|
rs199969388
|
0.00016
|
NM_001040716.2(PC):c.1716C>T (p.Asp572=)
|
rs577570512
|
0.00016
|
NM_001040716.2(PC):c.2804C>T (p.Ala935Val)
|
rs139540331
|
0.00016
|
NM_001040716.2(PC):c.786G>T (p.Glu262Asp)
|
rs200030109
|
0.00015
|
NM_001040716.2(PC):c.1494A>G (p.Gln498=)
|
rs761935997
|
0.00014
|
NM_001040716.2(PC):c.190G>A (p.Val64Ile)
|
rs35698729
|
0.00014
|
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)
|
rs148492494
|
0.00014
|
NM_001040716.2(PC):c.571A>G (p.Ile191Val)
|
rs141543771
|
0.00014
|
NM_001040716.2(PC):c.1575G>A (p.Thr525=)
|
rs143833575
|
0.00013
|
NM_001040716.2(PC):c.843C>T (p.Ala281=)
|
rs150040684
|
0.00012
|
NM_001040716.2(PC):c.1640G>A (p.Arg547Gln)
|
rs142036463
|
0.00011
|
NM_001040716.2(PC):c.1771G>A (p.Ala591Thr)
|
rs139795235
|
0.00011
|
NM_001040716.2(PC):c.2304G>C (p.Leu768=)
|
rs61731787
|
0.00011
|
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)
|
rs755385132
|
0.00011
|
NM_001040716.2(PC):c.3473G>A (p.Arg1158His)
|
rs149054698
|
0.00011
|
NM_001040716.2(PC):c.904-11C>T
|
rs200473405
|
0.00011
|
NM_001040716.2(PC):c.*185G>A
|
rs573667993
|
0.00010
|
NM_001040716.2(PC):c.2223+20G>A
|
rs550066048
|
0.00010
|
NM_001040716.2(PC):c.2224-14C>T
|
rs780315450
|
0.00010
|
NM_001040716.2(PC):c.2586T>C (p.Tyr862=)
|
rs191620803
|
0.00009
|
NM_001040716.2(PC):c.2718+14G>A
|
rs745905844
|
0.00009
|
NM_001040716.2(PC):c.1874G>A (p.Arg625Gln)
|
rs199568784
|
0.00008
|
NM_001040716.2(PC):c.474C>T (p.Ile158=)
|
rs767537673
|
0.00008
|
NM_001040716.2(PC):c.1409A>G (p.Gln470Arg)
|
rs940286072
|
0.00007
|
NM_001040716.2(PC):c.1513+10G>A
|
rs200660481
|
0.00007
|
NM_001040716.2(PC):c.1833G>A (p.Thr611=)
|
rs138796998
|
0.00007
|
NM_001040716.2(PC):c.322-10C>T
|
rs371834866
|
0.00007
|
NM_001040716.2(PC):c.3321C>T (p.Asp1107=)
|
rs758911778
|
0.00007
|
NM_001040716.2(PC):c.50G>A (p.Arg17His)
|
rs375282341
|
0.00007
|
NM_001040716.2(PC):c.918C>T (p.Asn306=)
|
rs372125858
|
0.00007
|
NM_001040716.2(PC):c.1512C>T (p.Leu504=)
|
rs763298490
|
0.00006
|
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu)
|
rs370248734
|
0.00006
|
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)
|
rs113994145
|
0.00006
|
NM_001040716.2(PC):c.3042C>T (p.Pro1014=)
|
rs370090137
|
0.00006
|
NM_001040716.2(PC):c.3513C>T (p.Asp1171=)
|
rs763623526
|
0.00006
|
NM_001040716.2(PC):c.975C>G (p.Val325=)
|
rs374244283
|
0.00006
|
NM_001040716.2(PC):c.1023-4A>G
|
rs1294415190
|
0.00005
|
NM_001040716.2(PC):c.1149C>T (p.Pro383=)
|
rs942544161
|
0.00005
|
NM_001040716.2(PC):c.1233C>T (p.Ser411=)
|
rs747247743
|
0.00005
|
NM_001040716.2(PC):c.1317C>T (p.Ala439=)
|
rs772463388
|
0.00005
|
NM_001040716.2(PC):c.1368+11G>A
|
rs371731636
|
0.00005
|
NM_001040716.2(PC):c.1514-6C>T
|
rs745563711
|
0.00005
|
NM_001040716.2(PC):c.1701C>T (p.Asp567=)
|
rs376240725
|
0.00005
|
NM_001040716.2(PC):c.2469C>T (p.Asp823=)
|
rs145654496
|
0.00005
|
NM_001040716.2(PC):c.2886C>T (p.Pro962=)
|
rs780732004
|
0.00005
|
NM_001040716.2(PC):c.3072T>C (p.Thr1024=)
|
rs147432626
|
0.00005
|
NM_001040716.2(PC):c.3171G>A (p.Thr1057=)
|
rs147550265
|
0.00005
|
NM_001040716.2(PC):c.3192C>T (p.Ala1064=)
|
rs751541124
|
0.00005
|
NM_001040716.2(PC):c.751+13G>A
|
rs374607634
|
0.00005
|
NM_001040716.2(PC):c.*188G>A
|
rs553630251
|
0.00004
|
NM_001040716.2(PC):c.1074C>T (p.Pro358=)
|
rs749417596
|
0.00004
|
NM_001040716.2(PC):c.1140C>T (p.Thr380=)
|
rs369657359
|
0.00004
|
NM_001040716.2(PC):c.1185+13C>T
|
rs369097493
|
0.00004
|
NM_001040716.2(PC):c.1296C>T (p.His432=)
|
rs751412938
|
0.00004
|
NM_001040716.2(PC):c.1370C>G (p.Thr457Ser)
|
rs200676705
|
0.00004
|
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu)
|
rs751657066
|
0.00004
|
NM_001040716.2(PC):c.1614G>A (p.Pro538=)
|
rs35235415
|
0.00004
|
NM_001040716.2(PC):c.1704G>A (p.Thr568=)
|
rs549934922
|
0.00004
|
NM_001040716.2(PC):c.1767G>T (p.Lys589Asn)
|
rs143725101
|
0.00004
|
NM_001040716.2(PC):c.1842C>T (p.Val614=)
|
rs142817472
|
0.00004
|
NM_001040716.2(PC):c.2489G>A (p.Arg830His)
|
rs773519800
|
0.00004
|
NM_001040716.2(PC):c.258C>T (p.Ile86=)
|
rs982214658
|
0.00004
|
NM_001040716.2(PC):c.2899-9G>A
|
rs372755874
|
0.00004
|
NM_001040716.2(PC):c.3009G>A (p.Thr1003=)
|
rs377272205
|
0.00004
|
NM_001040716.2(PC):c.3137A>G (p.Glu1046Gly)
|
rs771700107
|
0.00004
|
NM_001040716.2(PC):c.3147+11C>G
|
rs376612922
|
0.00004
|
NM_001040716.2(PC):c.3383G>C (p.Gly1128Ala)
|
rs138990904
|
0.00004
|
NM_001040716.2(PC):c.495C>T (p.Pro165=)
|
rs372522645
|
0.00004
|
NM_001040716.2(PC):c.561C>T (p.Tyr187=)
|
rs145333590
|
0.00004
|
NM_001040716.2(PC):c.879C>T (p.Ser293=)
|
rs183131461
|
0.00004
|
NM_001040716.2(PC):c.904-16G>A
|
rs189690730
|
0.00004
|
NM_001040716.2(PC):c.1297G>A (p.Gly433Ser)
|
rs908978048
|
0.00003
|
NM_001040716.2(PC):c.1519G>A (p.Val507Ile)
|
rs555210692
|
0.00003
|
NM_001040716.2(PC):c.1530C>T (p.Asn510=)
|
rs755162836
|
0.00003
|
NM_001040716.2(PC):c.1581C>T (p.Pro527=)
|
rs570919766
|
0.00003
|
NM_001040716.2(PC):c.1770C>T (p.Ile590=)
|
rs199923862
|
0.00003
|
NM_001040716.2(PC):c.1902C>T (p.Ile634=)
|
rs756874373
|
0.00003
|
NM_001040716.2(PC):c.2076G>A (p.Ala692=)
|
rs753064456
|
0.00003
|
NM_001040716.2(PC):c.2124C>T (p.Gly708=)
|
rs200488501
|
0.00003
|
NM_001040716.2(PC):c.2128G>A (p.Val710Met)
|
rs749176333
|
0.00003
|
NM_001040716.2(PC):c.2133C>T (p.Ala711=)
|
rs201327739
|
0.00003
|
NM_001040716.2(PC):c.2224-4C>T
|
rs750993796
|
0.00003
|
NM_001040716.2(PC):c.2247C>T (p.Pro749=)
|
rs776576677
|
0.00003
|
NM_001040716.2(PC):c.264C>T (p.Arg88=)
|
rs757830976
|
0.00003
|
NM_001040716.2(PC):c.2703G>A (p.Leu901=)
|
rs187166676
|
0.00003
|
NM_001040716.2(PC):c.3064G>A (p.Asp1022Asn)
|
rs747786536
|
0.00003
|
NM_001040716.2(PC):c.3336C>T (p.Ile1112=)
|
rs776196411
|
0.00003
|
NM_001040716.2(PC):c.3396C>G (p.Ala1132=)
|
rs553914941
|
0.00003
|
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile)
|
rs201796252
|
0.00003
|
NM_001040716.2(PC):c.3483T>C (p.His1161=)
|
rs190223302
|
0.00003
|
NM_001040716.2(PC):c.3514G>A (p.Asp1172Asn)
|
rs568925019
|
0.00003
|
NM_001040716.2(PC):c.440G>A (p.Arg147His)
|
rs748987495
|
0.00003
|
NM_001040716.2(PC):c.752-5C>T
|
rs770994083
|
0.00003
|
NM_001040716.2(PC):c.841G>A (p.Ala281Thr)
|
rs773369359
|
0.00003
|
NM_001040716.2(PC):c.*43C>T
|
rs751861809
|
0.00002
|
NM_001040716.2(PC):c.1150G>A (p.Ala384Thr)
|
rs1464614105
|
0.00002
|
NM_001040716.2(PC):c.1167G>A (p.Pro389=)
|
rs556534486
|
0.00002
|
NM_001040716.2(PC):c.1185+14G>A
|
rs375290516
|
0.00002
|
NM_001040716.2(PC):c.1353C>T (p.Arg451=)
|
rs542353629
|
0.00002
|
NM_001040716.2(PC):c.1354G>A (p.Val452Ile)
|
rs779387492
|
0.00002
|
NM_001040716.2(PC):c.1377C>T (p.Ile459=)
|
rs201776268
|
0.00002
|
NM_001040716.2(PC):c.1425T>C (p.Thr475=)
|
rs781599048
|
0.00002
|
NM_001040716.2(PC):c.1514-13G>A
|
rs773976056
|
0.00002
|
NM_001040716.2(PC):c.1650T>C (p.Pro550=)
|
rs1164560956
|
0.00002
|
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln)
|
rs148613404
|
0.00002
|
NM_001040716.2(PC):c.1690C>T (p.Leu564=)
|
rs1233418840
|
0.00002
|
NM_001040716.2(PC):c.171G>A (p.Thr57=)
|
rs373105398
|
0.00002
|
NM_001040716.2(PC):c.1755C>T (p.His585=)
|
rs760538194
|
0.00002
|
NM_001040716.2(PC):c.1866C>T (p.Cys622=)
|
rs1945519559
|
0.00002
|
NM_001040716.2(PC):c.1899C>A (p.Leu633=)
|
rs780830234
|
0.00002
|
NM_001040716.2(PC):c.189C>T (p.Thr63=)
|
rs762631892
|
0.00002
|
NM_001040716.2(PC):c.1935G>A (p.Gly645=)
|
rs750469404
|
0.00002
|
NM_001040716.2(PC):c.1944T>C (p.Ala648=)
|
rs774759089
|
0.00002
|
NM_001040716.2(PC):c.1962C>T (p.Tyr654=)
|
rs763471198
|
0.00002
|
NM_001040716.2(PC):c.2127C>T (p.Asp709=)
|
rs768324552
|
0.00002
|
NM_001040716.2(PC):c.2154C>T (p.Tyr718=)
|
rs1293856380
|
0.00002
|
NM_001040716.2(PC):c.2211C>T (p.Ile737=)
|
rs762599900
|
0.00002
|
NM_001040716.2(PC):c.228C>T (p.His76=)
|
rs774618137
|
0.00002
|
NM_001040716.2(PC):c.24T>C (p.His8=)
|
rs765578958
|
0.00002
|
NM_001040716.2(PC):c.2707G>A (p.Asp903Asn)
|
rs758910766
|
0.00002
|
NM_001040716.2(PC):c.2890C>T (p.Arg964Cys)
|
rs192822072
|
0.00002
|
NM_001040716.2(PC):c.3008C>T (p.Thr1003Met)
|
rs145046106
|
0.00002
|
NM_001040716.2(PC):c.3012G>A (p.Pro1004=)
|
rs112030121
|
0.00002
|
NM_001040716.2(PC):c.3033T>C (p.Ala1011=)
|
rs139740019
|
0.00002
|
NM_001040716.2(PC):c.3034A>G (p.Met1012Val)
|
rs1030212351
|
0.00002
|
NM_001040716.2(PC):c.3213C>T (p.Ala1071=)
|
rs774982916
|
0.00002
|
NM_001040716.2(PC):c.3214G>A (p.Gly1072Ser)
|
rs768048602
|
0.00002
|
NM_001040716.2(PC):c.3327G>A (p.Lys1109=)
|
rs202085529
|
0.00002
|
NM_001040716.2(PC):c.3409C>G (p.Leu1137Val)
|
rs777927070
|
0.00002
|
NM_001040716.2(PC):c.543C>T (p.His181=)
|
rs139717038
|
0.00002
|
NM_001040716.2(PC):c.634-10G>A
|
rs751946688
|
0.00002
|
NM_001040716.2(PC):c.783C>T (p.Tyr261=)
|
rs144330590
|
0.00002
|
NM_001040716.2(PC):c.837C>T (p.Pro279=)
|
rs369972881
|
0.00002
|
NM_001040716.2(PC):c.855G>A (p.Pro285=)
|
rs200478006
|
0.00002
|
NM_001040716.2(PC):c.87C>A (p.Val29=)
|
rs777754654
|
0.00002
|
NM_001040716.2(PC):c.903+19G>A
|
rs201507432
|
0.00002
|
NM_001040716.2(PC):c.969C>T (p.Ile323=)
|
rs752996978
|
0.00002
|
NM_001040716.2(PC):c.*161C>T
|
rs886048554
|
0.00001
|
NM_001040716.2(PC):c.1-4C>A
|
rs1313846853
|
0.00001
|
NM_001040716.2(PC):c.1088G>A (p.Arg363Gln)
|
rs752041697
|
0.00001
|
NM_001040716.2(PC):c.108C>T (p.Pro36=)
|
rs1226912880
|
0.00001
|
NM_001040716.2(PC):c.1092G>A (p.Gln364=)
|
rs1192644624
|
0.00001
|
NM_001040716.2(PC):c.1098C>T (p.Asn366=)
|
rs775182284
|
0.00001
|
NM_001040716.2(PC):c.1110C>T (p.Asn370=)
|
rs776429910
|
0.00001
|
NM_001040716.2(PC):c.1152G>A (p.Ala384=)
|
rs373053724
|
0.00001
|
NM_001040716.2(PC):c.1153C>T (p.Arg385Cys)
|
rs773109008
|
0.00001
|
NM_001040716.2(PC):c.1155C>A (p.Arg385=)
|
rs1179773551
|
0.00001
|
NM_001040716.2(PC):c.1173C>T (p.Thr391=)
|
rs202135326
|
0.00001
|
NM_001040716.2(PC):c.1185+7G>A
|
rs764854894
|
0.00001
|
NM_001040716.2(PC):c.1186-19C>T
|
rs200472867
|
0.00001
|
NM_001040716.2(PC):c.1197C>T (p.Ser399=)
|
rs776840589
|
0.00001
|
NM_001040716.2(PC):c.1221G>A (p.Leu407=)
|
rs771046930
|
0.00001
|
NM_001040716.2(PC):c.1234G>A (p.Ala412Thr)
|
rs773645433
|
0.00001
|
NM_001040716.2(PC):c.1248C>T (p.Ala416=)
|
rs372061505
|
0.00001
|
NM_001040716.2(PC):c.1257G>A (p.Ser419=)
|
rs1417266857
|
0.00001
|
NM_001040716.2(PC):c.1269C>T (p.Asp423=)
|
rs1387760011
|
0.00001
|
NM_001040716.2(PC):c.1272C>T (p.Ser424=)
|
rs767255097
|
0.00001
|
NM_001040716.2(PC):c.1273C>T (p.Leu425=)
|
rs1397701009
|
0.00001
|
NM_001040716.2(PC):c.127G>A (p.Ala43Thr)
|
rs756621649
|
0.00001
|
NM_001040716.2(PC):c.1299C>G (p.Gly433=)
|
rs763937652
|
0.00001
|
NM_001040716.2(PC):c.1311C>G (p.Pro437=)
|
rs766485640
|
0.00001
|
NM_001040716.2(PC):c.136+8C>T
|
rs944736105
|
0.00001
|
NM_001040716.2(PC):c.136+9C>T
|
rs749948216
|
0.00001
|
NM_001040716.2(PC):c.1368+1G>T
|
rs755640269
|
0.00001
|
NM_001040716.2(PC):c.1431C>T (p.Asp477=)
|
rs746568602
|
0.00001
|
NM_001040716.2(PC):c.1443C>T (p.Ile481=)
|
rs375389054
|
0.00001
|
NM_001040716.2(PC):c.1461G>A (p.Leu487=)
|
rs1209304828
|
0.00001
|
NM_001040716.2(PC):c.1485C>T (p.Asn495=)
|
rs766290468
|
0.00001
|
NM_001040716.2(PC):c.14G>A (p.Arg5Gln)
|
rs753072659
|
0.00001
|
NM_001040716.2(PC):c.1503G>A (p.Leu501=)
|
rs200108233
|
0.00001
|
NM_001040716.2(PC):c.1514-9T>C
|
rs769129894
|
0.00001
|
NM_001040716.2(PC):c.1518T>C (p.His506=)
|
rs781319350
|
0.00001
|
NM_001040716.2(PC):c.1524G>A (p.Met508Ile)
|
rs765499560
|
0.00001
|
NM_001040716.2(PC):c.1545G>A (p.Pro515=)
|
rs761154786
|
0.00001
|
NM_001040716.2(PC):c.159C>T (p.Phe53=)
|
rs749641310
|
0.00001
|
NM_001040716.2(PC):c.1603+12C>G
|
rs755182246
|
0.00001
|
NM_001040716.2(PC):c.1604-16C>A
|
rs769556316
|
0.00001
|
NM_001040716.2(PC):c.1613C>T (p.Pro538Leu)
|
rs151174961
|
0.00001
|
NM_001040716.2(PC):c.1620T>C (p.Gly540=)
|
rs781570011
|
0.00001
|
NM_001040716.2(PC):c.1647G>A (p.Gly549=)
|
rs763282432
|
0.00001
|
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter)
|
rs766242199
|
0.00001
|
NM_001040716.2(PC):c.1673G>A (p.Arg558Gln)
|
rs773005705
|
0.00001
|
NM_001040716.2(PC):c.1684G>C (p.Gly562Arg)
|
rs746060650
|
0.00001
|
NM_001040716.2(PC):c.1713G>A (p.Arg571=)
|
rs924296015
|
0.00001
|
NM_001040716.2(PC):c.1719C>T (p.Ala573=)
|
rs1168306694
|
0.00001
|
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn)
|
rs371922891
|
0.00001
|
NM_001040716.2(PC):c.1826-5T>C
|
rs750069032
|
0.00001
|
NM_001040716.2(PC):c.1826-6G>A
|
rs377766432
|
0.00001
|
NM_001040716.2(PC):c.1832C>T (p.Thr611Met)
|
rs757071897
|
0.00001
|
NM_001040716.2(PC):c.1839C>T (p.Asp613=)
|
rs369234869
|
0.00001
|
NM_001040716.2(PC):c.1971C>T (p.Asn657=)
|
rs776137762
|
0.00001
|
NM_001040716.2(PC):c.1974G>C (p.Val658=)
|
rs745327162
|
0.00001
|
NM_001040716.2(PC):c.1982+10G>A
|
rs373251486
|
0.00001
|
NM_001040716.2(PC):c.1983-9C>T
|
rs747875763
|
0.00001
|
NM_001040716.2(PC):c.2024G>A (p.Arg675His)
|
rs375528540
|
0.00001
|
NM_001040716.2(PC):c.2088C>T (p.Ala696=)
|
rs975494289
|
0.00001
|
NM_001040716.2(PC):c.2190G>C (p.Leu730=)
|
rs926210262
|
0.00001
|
NM_001040716.2(PC):c.2194C>T (p.Arg732Ter)
|
rs112948607
|
0.00001
|
NM_001040716.2(PC):c.2195G>A (p.Arg732Gln)
|
rs773872994
|
0.00001
|
NM_001040716.2(PC):c.2214G>A (p.Leu738=)
|
rs202134233
|
0.00001
|
NM_001040716.2(PC):c.2224-18C>A
|
rs768718604
|
0.00001
|
NM_001040716.2(PC):c.2226C>T (p.Asp742=)
|
rs1445463369
|
0.00001
|
NM_001040716.2(PC):c.2265G>T (p.Leu755=)
|
rs1226564535
|
0.00001
|
NM_001040716.2(PC):c.2268C>T (p.Val756=)
|
rs183729868
|
0.00001
|
NM_001040716.2(PC):c.2274C>T (p.Ser758=)
|
rs930022211
|
0.00001
|
NM_001040716.2(PC):c.2280G>A (p.Arg760=)
|
rs1322102414
|
0.00001
|
NM_001040716.2(PC):c.2292C>T (p.Pro764=)
|
rs757918962
|
0.00001
|
NM_001040716.2(PC):c.2365G>C (p.Ala789Pro)
|
rs1945435067
|
0.00001
|
NM_001040716.2(PC):c.2409G>A (p.Gly803=)
|
rs778275619
|
0.00001
|
NM_001040716.2(PC):c.2473+8G>A
|
rs371135064
|
0.00001
|
NM_001040716.2(PC):c.2493G>A (p.Val831=)
|
rs1366257079
|
0.00001
|
NM_001040716.2(PC):c.2505T>C (p.Ser835=)
|
rs750588691
|
0.00001
|
NM_001040716.2(PC):c.2535C>T (p.Tyr845=)
|
rs534635326
|
0.00001
|
NM_001040716.2(PC):c.2574C>T (p.Asn858=)
|
rs753913817
|
0.00001
|
NM_001040716.2(PC):c.2589A>G (p.Glu863=)
|
rs767914748
|
0.00001
|
NM_001040716.2(PC):c.2637C>T (p.His879=)
|
rs1255657554
|
0.00001
|
NM_001040716.2(PC):c.2652C>T (p.Gly884=)
|
rs777576274
|
0.00001
|
NM_001040716.2(PC):c.2706C>T (p.Gly902=)
|
rs73489729
|
0.00001
|
NM_001040716.2(PC):c.2719-11C>A
|
rs767201118
|
0.00001
|
NM_001040716.2(PC):c.2724G>A (p.Thr908=)
|
rs573985170
|
0.00001
|
NM_001040716.2(PC):c.2727C>T (p.Pro909=)
|
rs1288499682
|
0.00001
|
NM_001040716.2(PC):c.2730C>T (p.Ser910=)
|
rs554090254
|
0.00001
|
NM_001040716.2(PC):c.2739C>T (p.Ile913=)
|
rs145489836
|
0.00001
|
NM_001040716.2(PC):c.2740G>A (p.Val914Met)
|
rs775626599
|
0.00001
|
NM_001040716.2(PC):c.2754C>T (p.Ala918=)
|
rs534275006
|
0.00001
|
NM_001040716.2(PC):c.2776T>C (p.Leu926=)
|
rs912867186
|
0.00001
|
NM_001040716.2(PC):c.2786C>G (p.Ala929Gly)
|
rs565678903
|
0.00001
|
NM_001040716.2(PC):c.2793C>T (p.Ala931=)
|
rs749960473
|
0.00001
|
NM_001040716.2(PC):c.2805G>A (p.Ala935=)
|
rs1278630981
|
0.00001
|
NM_001040716.2(PC):c.2829C>T (p.Ser943=)
|
rs769867981
|
0.00001
|
NM_001040716.2(PC):c.2838G>A (p.Glu946=)
|
rs1945378120
|
0.00001
|
NM_001040716.2(PC):c.2844G>A (p.Leu948=)
|
rs753274377
|
0.00001
|
NM_001040716.2(PC):c.2880C>T (p.Pro960=)
|
rs549991937
|
0.00001
|
NM_001040716.2(PC):c.289C>T (p.Leu97=)
|
rs368549197
|
0.00001
|
NM_001040716.2(PC):c.2922G>A (p.Val974=)
|
rs752435667
|
0.00001
|
NM_001040716.2(PC):c.2976G>A (p.Lys992=)
|
rs368895283
|
0.00001
|
NM_001040716.2(PC):c.2997G>A (p.Gly999=)
|
rs1945359016
|
0.00001
|
NM_001040716.2(PC):c.3024C>T (p.Leu1008=)
|
rs1418975965
|
0.00001
|
NM_001040716.2(PC):c.3043G>A (p.Asp1015Asn)
|
rs746490033
|
0.00001
|
NM_001040716.2(PC):c.3078C>T (p.Thr1026=)
|
rs750411329
|
0.00001
|
NM_001040716.2(PC):c.3084C>A (p.Gly1028=)
|
rs375994634
|
0.00001
|
NM_001040716.2(PC):c.3132C>T (p.Ile1044=)
|
rs771370242
|
0.00001
|
NM_001040716.2(PC):c.3147+17C>T
|
rs767447355
|
0.00001
|
NM_001040716.2(PC):c.3148-10C>T
|
rs772718644
|
0.00001
|
NM_001040716.2(PC):c.3148-14C>T
|
rs773784306
|
0.00001
|
NM_001040716.2(PC):c.3177C>T (p.His1059=)
|
rs769512871
|
0.00001
|
NM_001040716.2(PC):c.3234T>C (p.Phe1078=)
|
rs531640812
|
0.00001
|
NM_001040716.2(PC):c.3262T>C (p.Leu1088=)
|
rs910028001
|
0.00001
|
NM_001040716.2(PC):c.3279G>A (p.Gln1093=)
|
rs754942279
|
0.00001
|
NM_001040716.2(PC):c.3288+20C>T
|
rs750712278
|
0.00001
|
NM_001040716.2(PC):c.3288+9T>A
|
rs1233044534
|
0.00001
|
NM_001040716.2(PC):c.331G>A (p.Val111Ile)
|
rs753573264
|
0.00001
|
NM_001040716.2(PC):c.3357G>A (p.Lys1119=)
|
rs960938078
|
0.00001
|
NM_001040716.2(PC):c.3364G>C (p.Asp1122His)
|
rs745961257
|
0.00001
|
NM_001040716.2(PC):c.3504G>A (p.Leu1168=)
|
rs1309122730
|
0.00001
|
NM_001040716.2(PC):c.354C>T (p.Tyr118=)
|
rs756061375
|
0.00001
|
NM_001040716.2(PC):c.374C>T (p.Ala125Val)
|
rs199678394
|
0.00001
|
NM_001040716.2(PC):c.375G>A (p.Ala125=)
|
rs775684836
|
0.00001
|
NM_001040716.2(PC):c.381C>T (p.Phe127=)
|
rs367957543
|
0.00001
|
NM_001040716.2(PC):c.435G>A (p.Val145=)
|
rs778555357
|
0.00001
|
NM_001040716.2(PC):c.462G>A (p.Glu154=)
|
rs1240619530
|
0.00001
|
NM_001040716.2(PC):c.467G>A (p.Arg156Gln)
|
rs119103241
|
0.00001
|
NM_001040716.2(PC):c.487+7A>G
|
rs766680971
|
0.00001
|
NM_001040716.2(PC):c.576C>A (p.Ile192=)
|
rs758308970
|
0.00001
|
NM_001040716.2(PC):c.630C>T (p.Tyr210=)
|
rs751914905
|
0.00001
|
NM_001040716.2(PC):c.633+2T>C
|
rs763433647
|
0.00001
|
NM_001040716.2(PC):c.634-5C>T
|
rs373145902
|
0.00001
|
NM_001040716.2(PC):c.63C>T (p.Thr21=)
|
rs1283060530
|
0.00001
|
NM_001040716.2(PC):c.642G>A (p.Glu214=)
|
rs1213652361
|
0.00001
|
NM_001040716.2(PC):c.64G>A (p.Ala22Thr)
|
rs767170503
|
0.00001
|
NM_001040716.2(PC):c.678C>T (p.Ala226=)
|
rs760305529
|
0.00001
|
NM_001040716.2(PC):c.679G>A (p.Ala227Thr)
|
rs773004288
|
0.00001
|
NM_001040716.2(PC):c.696G>A (p.Ala232=)
|
rs768625636
|
0.00001
|
NM_001040716.2(PC):c.717C>T (p.Ile239=)
|
rs568909850
|
0.00001
|
NM_001040716.2(PC):c.720G>A (p.Glu240=)
|
rs549056241
|
0.00001
|
NM_001040716.2(PC):c.735C>T (p.Ile245=)
|
rs1212408282
|
0.00001
|
NM_001040716.2(PC):c.741G>A (p.Val247=)
|
rs753387559
|
0.00001
|
NM_001040716.2(PC):c.753G>C (p.Gly251=)
|
rs1351471340
|
0.00001
|
NM_001040716.2(PC):c.784G>A (p.Glu262Lys)
|
rs1324553572
|
0.00001
|
NM_001040716.2(PC):c.78C>A (p.Ser26=)
|
rs1161512784
|
0.00001
|
NM_001040716.2(PC):c.806G>A (p.Arg269Gln)
|
rs1349343839
|
0.00001
|
NM_001040716.2(PC):c.819G>A (p.Lys273=)
|
rs780734661
|
0.00001
|
NM_001040716.2(PC):c.825C>T (p.Val275=)
|
rs546067067
|
0.00001
|
NM_001040716.2(PC):c.894C>T (p.Leu298=)
|
rs369445102
|
0.00001
|
NM_001040716.2(PC):c.904-10G>A
|
rs377642026
|
0.00001
|
NM_001040716.2(PC):c.912C>T (p.Tyr304=)
|
rs541901384
|
0.00001
|
NM_001040716.2(PC):c.921A>C (p.Ala307=)
|
rs754821702
|
0.00001
|
NM_001040716.2(PC):c.927C>T (p.Thr309=)
|
rs373717650
|
0.00001
|
NM_001040716.2(PC):c.*101G>A
|
rs561169212
|
|
NM_001040716.2(PC):c.*106G>T
|
rs45505701
|
|
NM_001040716.2(PC):c.*164dup
|
rs762257488
|
|
NM_001040716.2(PC):c.*203T>C
|
rs886048553
|
|
NM_001040716.2(PC):c.*88G>A
|
rs1945295941
|
|
NM_001040716.2(PC):c.1-35661G>T
|
rs1555040359
|
|
NM_001040716.2(PC):c.1023-13C>A
|
|
|
NM_001040716.2(PC):c.1023-13C>T
|
|
|
NM_001040716.2(PC):c.1023-14C>A
|
rs111858832
|
|
NM_001040716.2(PC):c.1023-14C>G
|
rs111858832
|
|
NM_001040716.2(PC):c.1023-14C>T
|
|
|
NM_001040716.2(PC):c.1023-14_1023-6del
|
rs2135917623
|
|
NM_001040716.2(PC):c.1023-15C>G
|
|
|
NM_001040716.2(PC):c.1023-1G>A
|
rs2135917561
|
|
NM_001040716.2(PC):c.1023-5T>G
|
|
|
NM_001040716.2(PC):c.1023C>T (p.Asp341=)
|
|
|
NM_001040716.2(PC):c.1024G>A (p.Val342Ile)
|
|
|
NM_001040716.2(PC):c.1032G>A (p.Leu344=)
|
|
|
NM_001040716.2(PC):c.1038T>C (p.His346=)
|
rs2135917465
|
|
NM_001040716.2(PC):c.1042C>T (p.Gln348Ter)
|
rs2135917452
|
|
NM_001040716.2(PC):c.1048C>G (p.His350Asp)
|
rs866715653
|
|
NM_001040716.2(PC):c.1050C>T (p.His350=)
|
rs770612085
|
|
NM_001040716.2(PC):c.1052T>C (p.Val351Ala)
|
rs1261989853
|
|
NM_001040716.2(PC):c.105G>A (p.Lys35=)
|
|
|
NM_001040716.2(PC):c.1067_1070delinsTCCACGTGGCTGAGGGCAGGCAG (p.Ser356fs)
|
rs2135917229
|
|
NM_001040716.2(PC):c.106_107delinsAGACAGT (p.Pro36fs)
|
|
|
NM_001040716.2(PC):c.1072C>T (p.Pro358Ser)
|
|
|
NM_001040716.2(PC):c.1073C>G (p.Pro358Arg)
|
|
|
NM_001040716.2(PC):c.1075G>A (p.Asp359Asn)
|
rs780215837
|
|
NM_001040716.2(PC):c.1084del (p.Leu362fs)
|
rs2135917031
|
|
NM_001040716.2(PC):c.1089G>A (p.Arg363=)
|
|
|
NM_001040716.2(PC):c.1093_1095del (p.Glu365del)
|
|
|
NM_001040716.2(PC):c.1095G>A (p.Glu365=)
|
|
|
NM_001040716.2(PC):c.1103G>A (p.Arg368His)
|
|
|
NM_001040716.2(PC):c.1104C>T (p.Arg368=)
|
|
|
NM_001040716.2(PC):c.110T>C (p.Ile37Thr)
|
|
|
NM_001040716.2(PC):c.111C>A (p.Ile37=)
|
|
|
NM_001040716.2(PC):c.111C>G (p.Ile37Met)
|
|
|
NM_001040716.2(PC):c.111C>T (p.Ile37=)
|
|
|
NM_001040716.2(PC):c.1123C>T (p.Gln375Ter)
|
rs1310884700
|
|
NM_001040716.2(PC):c.112A>C (p.Lys38Gln)
|
|
|
NM_001040716.2(PC):c.1131G>A (p.Arg377=)
|
|
|
NM_001040716.2(PC):c.1131G>T (p.Arg377=)
|
rs1387922807
|
|
NM_001040716.2(PC):c.1146C>T (p.Asp382=)
|
rs958449027
|
|
NM_001040716.2(PC):c.1149C>G (p.Pro383=)
|
|
|
NM_001040716.2(PC):c.1151C>T (p.Ala384Val)
|
|
|
NM_001040716.2(PC):c.1154_1155del (p.Arg385fs)
|
rs1482845179
|
|
NM_001040716.2(PC):c.1167G>C (p.Pro389=)
|
rs556534486
|
|
NM_001040716.2(PC):c.1168dup (p.Asp390fs)
|
rs1946484568
|
|
NM_001040716.2(PC):c.1170C>T (p.Asp390=)
|
|
|
NM_001040716.2(PC):c.1177C>T (p.Arg393Cys)
|
|
|
NM_001040716.2(PC):c.1178G>A (p.Arg393His)
|
|
|
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr)
|
rs1057520687
|
|
NM_001040716.2(PC):c.1185+14G>C
|
|
|
NM_001040716.2(PC):c.1185+5_1185+8del
|
rs748620956
|
|
NM_001040716.2(PC):c.1186-10C>G
|
|
|
NM_001040716.2(PC):c.1186-12C>A
|
|
|
NM_001040716.2(PC):c.1186-18G>A
|
|
|
NM_001040716.2(PC):c.1186-1G>T
|
rs2135904801
|
|
NM_001040716.2(PC):c.1186-5C>T
|
|
|
NM_001040716.2(PC):c.1186-5del
|
|
|
NM_001040716.2(PC):c.1186-8T>A
|
|
|
NM_001040716.2(PC):c.1188G>T (p.Val396=)
|
|
|
NM_001040716.2(PC):c.118G>C (p.Val40Leu)
|
rs2135943669
|
|
NM_001040716.2(PC):c.1192C>T (p.Arg398Trp)
|
|
|
NM_001040716.2(PC):c.1194G>C (p.Arg398=)
|
|
|
NM_001040716.2(PC):c.1216C>T (p.Arg406Cys)
|
rs1358651584
|
|
NM_001040716.2(PC):c.1219C>T (p.Leu407=)
|
|
|
NM_001040716.2(PC):c.1225_1227del (p.Asn409del)
|
rs1555023879
|
|
NM_001040716.2(PC):c.1236C>T (p.Ala412=)
|
|
|
NM_001040716.2(PC):c.1249G>A (p.Val417Ile)
|
|
|
NM_001040716.2(PC):c.1251C>T (p.Val417=)
|
|
|
NM_001040716.2(PC):c.1257G>C (p.Ser419=)
|
|
|
NM_001040716.2(PC):c.1293C>A (p.Ala431=)
|
|
|
NM_001040716.2(PC):c.1295A>G (p.His432Arg)
|
|
|
NM_001040716.2(PC):c.1296_1304delinsGGCC (p.His432fs)
|
|
|
NM_001040716.2(PC):c.1308C>T (p.His436=)
|
rs776517996
|
|
NM_001040716.2(PC):c.1313C>T (p.Thr438Met)
|
|
|
NM_001040716.2(PC):c.1314G>A (p.Thr438=)
|
rs199877852
|
|
NM_001040716.2(PC):c.1323C>A (p.Thr441=)
|
rs2135903937
|
|
NM_001040716.2(PC):c.1326G>A (p.Lys442=)
|
rs1458972426
|
|
NM_001040716.2(PC):c.1333del (p.Arg445fs)
|
|
|
NM_001040716.2(PC):c.1335G>A (p.Arg445=)
|
|
|
NM_001040716.2(PC):c.1338C>T (p.Ala446=)
|
rs2135903866
|
|
NM_001040716.2(PC):c.1339del (p.Ala448fs)
|
|
|
NM_001040716.2(PC):c.1341T>C (p.Leu447=)
|
rs1272780127
|
|
NM_001040716.2(PC):c.1343C>T (p.Ala448Val)
|
|
|
NM_001040716.2(PC):c.1344G>T (p.Ala448=)
|
|
|
NM_001040716.2(PC):c.1345G>T (p.Glu449Ter)
|
rs2135903791
|
|
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)
|
rs113994143
|
|
NM_001040716.2(PC):c.1352G>A (p.Arg451His)
|
|
|
NM_001040716.2(PC):c.1353C>A (p.Arg451=)
|
rs542353629
|
|
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)
|
rs768514713
|
|
NM_001040716.2(PC):c.1358G>A (p.Arg453Gln)
|
|
|
NM_001040716.2(PC):c.136+11G>T
|
|
|
NM_001040716.2(PC):c.136+12T>G
|
rs201652131
|
|
NM_001040716.2(PC):c.136+18C>T
|
|
|
NM_001040716.2(PC):c.136+18del
|
|
|
NM_001040716.2(PC):c.136+19G>A
|
|
|
NM_001040716.2(PC):c.136+1G>T
|
|
|
NM_001040716.2(PC):c.136+8C>G
|
rs944736105
|
|
NM_001040716.2(PC):c.136+9C>G
|
rs749948216
|
|
NM_001040716.2(PC):c.1368+14G>A
|
|
|
NM_001040716.2(PC):c.1368+17C>G
|
|
|
NM_001040716.2(PC):c.1368+17C>T
|
|
|
NM_001040716.2(PC):c.1368+19C>T
|
|
|
NM_001040716.2(PC):c.1368+19del
|
|
|
NM_001040716.2(PC):c.1368+1G>A
|
rs755640269
|
|
NM_001040716.2(PC):c.1368+20G>A
|
|
|
NM_001040716.2(PC):c.1368+20G>T
|
|
|
NM_001040716.2(PC):c.1368+20del
|
|
|
NM_001040716.2(PC):c.1368+7G>C
|
rs2135903631
|
|
NM_001040716.2(PC):c.1369-15G>A
|
|
|
NM_001040716.2(PC):c.1369-16C>T
|
|
|
NM_001040716.2(PC):c.1369-17C>T
|
|
|
NM_001040716.2(PC):c.1369-1G>C
|
rs2135822173
|
|
NM_001040716.2(PC):c.1369-20C>T
|
|
|
NM_001040716.2(PC):c.1369-4G>A
|
rs2135822186
|
|
NM_001040716.2(PC):c.1369-5T>C
|
rs2135822203
|
|
NM_001040716.2(PC):c.1369-6C>T
|
rs1591127516
|
|
NM_001040716.2(PC):c.1369-7C>T
|
rs2135822235
|
|
NM_001040716.2(PC):c.1369-8T>A
|
|
|
NM_001040716.2(PC):c.1369-9G>A
|
rs2135822255
|
|
NM_001040716.2(PC):c.137-12T>C
|
|
|
NM_001040716.2(PC):c.137-13C>T
|
|
|
NM_001040716.2(PC):c.137-4C>T
|
|
|
NM_001040716.2(PC):c.137-5T>A
|
|
|
NM_001040716.2(PC):c.137-5T>G
|
|
|
NM_001040716.2(PC):c.137-6C>T
|
rs779304016
|
|
NM_001040716.2(PC):c.1372A>G (p.Asn458Asp)
|
rs2135822119
|
|
NM_001040716.2(PC):c.1383C>T (p.Phe461=)
|
|
|
NM_001040716.2(PC):c.1395G>A (p.Val465=)
|
|
|
NM_001040716.2(PC):c.1395G>T (p.Val465=)
|
rs1945622051
|
|
NM_001040716.2(PC):c.1405C>T (p.Gln469Ter)
|
|
|
NM_001040716.2(PC):c.1413C>T (p.Phe471=)
|
|
|
NM_001040716.2(PC):c.1435C>T (p.Gln479Ter)
|
|
|
NM_001040716.2(PC):c.1458G>A (p.Glu486=)
|
rs2135821279
|
|
NM_001040716.2(PC):c.1465del (p.Gln489fs)
|
|
|
NM_001040716.2(PC):c.1470G>A (p.Leu490=)
|
|
|
NM_001040716.2(PC):c.1476T>C (p.Pro492=)
|
rs1281726180
|
|
NM_001040716.2(PC):c.1479A>C (p.Ala493=)
|
|
|
NM_001040716.2(PC):c.1479A>G (p.Ala493=)
|
rs2135821105
|
|
NM_001040716.2(PC):c.147C>T (p.Ala49=)
|
|
|
NM_001040716.2(PC):c.1480C>T (p.Gln494Ter)
|
rs1945617407
|
|
NM_001040716.2(PC):c.1486C>T (p.Arg496Trp)
|
rs947957837
|
|
NM_001040716.2(PC):c.1487_1492del (p.Arg496_Ala497del)
|
|
|
NM_001040716.2(PC):c.1497G>A (p.Lys499=)
|
|
|
NM_001040716.2(PC):c.1509C>T (p.Tyr503=)
|
|
|
NM_001040716.2(PC):c.150C>A (p.Ile50=)
|
|
|
NM_001040716.2(PC):c.1513+10G>C
|
rs200660481
|
|
NM_001040716.2(PC):c.1513+14C>T
|
rs1945613813
|
|
NM_001040716.2(PC):c.1513+15T>C
|
|
|
NM_001040716.2(PC):c.1513+17C>T
|
|
|
NM_001040716.2(PC):c.1513+18C>T
|
|
|
NM_001040716.2(PC):c.1513+1G>A
|
rs1358550062
|
|
NM_001040716.2(PC):c.1513+6G>A
|
rs566545355
|
|
NM_001040716.2(PC):c.1513+9C>A
|
rs45580638
|
|
NM_001040716.2(PC):c.1513+9C>T
|
rs45580638
|
|
NM_001040716.2(PC):c.1514-12C>T
|
|
|
NM_001040716.2(PC):c.1514-13G>C
|
|
|
NM_001040716.2(PC):c.1514-14C>T
|
|
|
NM_001040716.2(PC):c.1514-15C>T
|
|
|
NM_001040716.2(PC):c.1514-2A>G
|
rs1945585636
|
|
NM_001040716.2(PC):c.1514-7T>A
|
|
|
NM_001040716.2(PC):c.1514-8C>T
|
rs779743894
|
|
NM_001040716.2(PC):c.1520del (p.Val507fs)
|
|
|
NM_001040716.2(PC):c.1526_1529del (p.Val509fs)
|
|
|
NM_001040716.2(PC):c.1527A>G (p.Val509=)
|
|
|
NM_001040716.2(PC):c.1533_1549del (p.Pro512fs)
|
|
|
NM_001040716.2(PC):c.1536_1537insG (p.Thr513fs)
|
|
|
NM_001040716.2(PC):c.1539C>T (p.Thr513=)
|
rs1251522964
|
|
NM_001040716.2(PC):c.1542C>T (p.Thr514=)
|
rs2135817170
|
|
NM_001040716.2(PC):c.1544C>T (p.Pro515Leu)
|
|
|
NM_001040716.2(PC):c.1560C>A (p.Ala520=)
|
rs1591125381
|
|
NM_001040716.2(PC):c.1560del (p.Ser521fs)
|
|
|
NM_001040716.2(PC):c.1563C>T (p.Ser521=)
|
|
|
NM_001040716.2(PC):c.1564_1565insAG (p.Pro522fs)
|
|
|
NM_001040716.2(PC):c.156G>A (p.Val52=)
|
|
|
NM_001040716.2(PC):c.156dup (p.Phe53fs)
|
|
|
NM_001040716.2(PC):c.1573A>G (p.Thr525Ala)
|
|
|
NM_001040716.2(PC):c.1574C>T (p.Thr525Met)
|
|
|
NM_001040716.2(PC):c.1574del (p.Thr525fs)
|
|
|
NM_001040716.2(PC):c.1575G>T (p.Thr525=)
|
rs143833575
|
|
NM_001040716.2(PC):c.1581C>G (p.Pro527=)
|
rs570919766
|
|
NM_001040716.2(PC):c.1582G>A (p.Val528Ile)
|
|
|
NM_001040716.2(PC):c.1584T>C (p.Val528=)
|
|
|
NM_001040716.2(PC):c.1596G>A (p.Val532=)
|
|
|
NM_001040716.2(PC):c.1599C>T (p.Pro533=)
|
|
|
NM_001040716.2(PC):c.15A>G (p.Arg5=)
|
rs2135944522
|
|
NM_001040716.2(PC):c.1603+17C>T
|
|
|
NM_001040716.2(PC):c.1603+18T>G
|
|
|
NM_001040716.2(PC):c.1604-12T>C
|
|
|
NM_001040716.2(PC):c.1604-13_1604-12del
|
|
|
NM_001040716.2(PC):c.1604-14C>T
|
|
|
NM_001040716.2(PC):c.1604-15C>T
|
|
|
NM_001040716.2(PC):c.1604-4C>T
|
|
|
NM_001040716.2(PC):c.1604-6C>T
|
rs746971709
|
|
NM_001040716.2(PC):c.1604-7A>T
|
rs2135815923
|
|
NM_001040716.2(PC):c.1604-8T>A
|
|
|
NM_001040716.2(PC):c.1604-9C>T
|
rs1439987432
|
|
NM_001040716.2(PC):c.1605C>A (p.Gly535=)
|
|
|
NM_001040716.2(PC):c.160C>T (p.Arg54Trp)
|
|
|
NM_001040716.2(PC):c.1621_1623delinsAT (p.Phe541fs)
|
|
|
NM_001040716.2(PC):c.1638G>A (p.Leu546=)
|
|
|
NM_001040716.2(PC):c.1638G>T (p.Leu546=)
|
|
|
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
|
|
|
NM_001040716.2(PC):c.1646G>A (p.Gly549Glu)
|
rs886048556
|
|
NM_001040716.2(PC):c.1668T>G (p.Ala556=)
|
rs1945568303
|
|
NM_001040716.2(PC):c.1672C>A (p.Arg558=)
|
rs752901945
|
|
NM_001040716.2(PC):c.1672C>T (p.Arg558Trp)
|
|
|
NM_001040716.2(PC):c.1680C>T (p.His560=)
|
|
|
NM_001040716.2(PC):c.1682C>T (p.Pro561Leu)
|
|
|
NM_001040716.2(PC):c.1683G>C (p.Pro561=)
|
|
|
NM_001040716.2(PC):c.1683G>T (p.Pro561=)
|
rs113071273
|
|
NM_001040716.2(PC):c.1687C>T (p.Leu563=)
|
rs2135814981
|
|
NM_001040716.2(PC):c.1689G>C (p.Leu563=)
|
|
|
NM_001040716.2(PC):c.169A>G (p.Thr57Ala)
|
|
|
NM_001040716.2(PC):c.1702_1706del (p.Thr568fs)
|
rs2135814786
|
|
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr)
|
rs796052029
|
|
NM_001040716.2(PC):c.1722C>T (p.His574=)
|
rs2135814600
|
|
NM_001040716.2(PC):c.1737C>T (p.Ala579=)
|
rs2135814504
|
|
NM_001040716.2(PC):c.1741C>T (p.Arg581Cys)
|
|
|
NM_001040716.2(PC):c.1742G>A (p.Arg581His)
|
|
|
NM_001040716.2(PC):c.1745_1746del (p.Val582fs)
|
|
|
NM_001040716.2(PC):c.1747C>T (p.Arg583Cys)
|
|
|
NM_001040716.2(PC):c.1748G>T (p.Arg583Leu)
|
rs119103242
|
|
NM_001040716.2(PC):c.177G>A (p.Leu59=)
|
|
|
NM_001040716.2(PC):c.1783G>T (p.Ala595Ser)
|
|
|
NM_001040716.2(PC):c.1791C>T (p.Asn597=)
|
|
|
NM_001040716.2(PC):c.1794C>T (p.Phe598=)
|
|
|
NM_001040716.2(PC):c.1799dup (p.Leu601fs)
|
|
|
NM_001040716.2(PC):c.1803C>G (p.Leu601=)
|
|
|
NM_001040716.2(PC):c.1804T>C (p.Phe602Leu)
|
rs2135813970
|
|
NM_001040716.2(PC):c.1806C>T (p.Phe602=)
|
|
|
NM_001040716.2(PC):c.1815G>A (p.Glu605=)
|
|
|
NM_001040716.2(PC):c.1825+10C>T
|
|
|
NM_001040716.2(PC):c.1825+14C>G
|
|
|
NM_001040716.2(PC):c.1825+17C>T
|
|
|
NM_001040716.2(PC):c.1825+18G>A
|
|
|
NM_001040716.2(PC):c.1825+18G>T
|
|
|
NM_001040716.2(PC):c.1825+1G>A
|
rs1565214970
|
|
NM_001040716.2(PC):c.1825+2T>G
|
|
|
NM_001040716.2(PC):c.1825+2_1825+5del
|
rs2135813862
|
|
NM_001040716.2(PC):c.1825+3A>C
|
rs1945555370
|
|
NM_001040716.2(PC):c.1825+7T>C
|
rs2135813847
|
|
NM_001040716.2(PC):c.1826-14C>T
|
|
|
NM_001040716.2(PC):c.1826-18C>T
|
|
|
NM_001040716.2(PC):c.1826-1G>C
|
|
|
NM_001040716.2(PC):c.1826-4G>A
|
|
|
NM_001040716.2(PC):c.1826-6G>C
|
|
|
NM_001040716.2(PC):c.1826-8C>T
|
|
|
NM_001040716.2(PC):c.1826-9C>T
|
rs572703070
|
|
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr)
|
rs28940589
|
|
NM_001040716.2(PC):c.1830C>T (p.Ala610=)
|
|
|
NM_001040716.2(PC):c.1833G>C (p.Thr611=)
|
rs138796998
|
|
NM_001040716.2(PC):c.183C>T (p.Ile61=)
|
|
|
NM_001040716.2(PC):c.1843G>A (p.Ala615Thr)
|
rs773466708
|
|
NM_001040716.2(PC):c.1843G>T (p.Ala615Ser)
|
|
|
NM_001040716.2(PC):c.1851C>T (p.Arg617=)
|
rs2135810236
|
|
NM_001040716.2(PC):c.1857G>A (p.Leu619=)
|
|
|
NM_001040716.2(PC):c.1860T>C (p.Tyr620=)
|
|
|
NM_001040716.2(PC):c.1873C>A (p.Arg625=)
|
|
|
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp)
|
rs1591122325
|
|
NM_001040716.2(PC):c.1877G>A (p.Arg626Gln)
|
rs780759271
|
|
NM_001040716.2(PC):c.1878G>A (p.Arg626=)
|
|
|
NM_001040716.2(PC):c.1890C>T (p.Leu630=)
|
rs1284772953
|
|
NM_001040716.2(PC):c.1891C>T (p.Arg631Trp)
|
|
|
NM_001040716.2(PC):c.1896G>A (p.Glu632=)
|
rs745438957
|
|
NM_001040716.2(PC):c.1899C>G (p.Leu633=)
|
|
|
NM_001040716.2(PC):c.1908C>T (p.Asn636=)
|
rs2135809462
|
|
NM_001040716.2(PC):c.1917C>T (p.Phe639=)
|
|
|
NM_001040716.2(PC):c.1918C>T (p.Gln640Ter)
|
rs2135809396
|
|
NM_001040716.2(PC):c.1924C>T (p.Leu642=)
|
rs2135809346
|
|
NM_001040716.2(PC):c.1929G>A (p.Leu643=)
|
|
|
NM_001040716.2(PC):c.1930C>A (p.Arg644=)
|
rs1468189989
|
|
NM_001040716.2(PC):c.1932G>C (p.Arg644=)
|
rs1591122081
|
|
NM_001040716.2(PC):c.1937C>G (p.Ala646Gly)
|
rs1565213970
|
|
NM_001040716.2(PC):c.1940A>G (p.Asn647Ser)
|
|
|
NM_001040716.2(PC):c.1953C>T (p.Tyr651=)
|
rs1945510204
|
|
NM_001040716.2(PC):c.1968C>T (p.Asp656=)
|
rs2135808762
|
|
NM_001040716.2(PC):c.196A>G (p.Ile66Val)
|
rs1409511654
|
|
NM_001040716.2(PC):c.1972G>A (p.Val658Met)
|
|
|
NM_001040716.2(PC):c.1974G>A (p.Val658=)
|
rs745327162
|
|
NM_001040716.2(PC):c.1980del (p.Phe660fs)
|
|
|
NM_001040716.2(PC):c.1982+12G>A
|
|
|
NM_001040716.2(PC):c.1982+13T>G
|
|
|
NM_001040716.2(PC):c.1982+15G>T
|
|
|
NM_001040716.2(PC):c.1982+16G>C
|
|
|
NM_001040716.2(PC):c.1982+17G>A
|
|
|
NM_001040716.2(PC):c.1982+18T>C
|
|
|
NM_001040716.2(PC):c.1982+7C>G
|
|
|
NM_001040716.2(PC):c.1983-10A>G
|
rs2135804777
|
|
NM_001040716.2(PC):c.1983-116C>T
|
rs2135805611
|
|
NM_001040716.2(PC):c.1983-11C>T
|
|
|
NM_001040716.2(PC):c.1983-15C>G
|
|
|
NM_001040716.2(PC):c.1983-16T>G
|
|
|
NM_001040716.2(PC):c.1983-18G>A
|
|
|
NM_001040716.2(PC):c.1983-18G>C
|
|
|
NM_001040716.2(PC):c.1983-19G>C
|
|
|
NM_001040716.2(PC):c.1983-5T>G
|
|
|
NM_001040716.2(PC):c.1983-7C>G
|
rs2135804751
|
|
NM_001040716.2(PC):c.1983-8C>T
|
|
|
NM_001040716.2(PC):c.1989_1990dup (p.Glu664fs)
|
|
|
NM_001040716.2(PC):c.2000A>G (p.Lys667Arg)
|
|
|
NM_001040716.2(PC):c.2004_2005del (p.Asn669fs)
|
|
|
NM_001040716.2(PC):c.200_201del (p.Tyr67fs)
|
|
|
NM_001040716.2(PC):c.2016T>C (p.Asp672=)
|
|
|
NM_001040716.2(PC):c.2019C>A (p.Val673=)
|
rs1591119887
|
|
NM_001040716.2(PC):c.2019C>T (p.Val673=)
|
rs1591119887
|
|
NM_001040716.2(PC):c.201C>T (p.Tyr67=)
|
|
|
NM_001040716.2(PC):c.2026G>A (p.Val676Met)
|
|
|
NM_001040716.2(PC):c.2031T>C (p.Phe677=)
|
rs2135804499
|
|
NM_001040716.2(PC):c.2034C>T (p.Asp678=)
|
rs2135804486
|
|
NM_001040716.2(PC):c.2037C>A (p.Ser679=)
|
rs2135804472
|
|
NM_001040716.2(PC):c.203C>T (p.Ser68Phe)
|
|
|
NM_001040716.2(PC):c.2040C>T (p.Leu680=)
|
rs1945471644
|
|
NM_001040716.2(PC):c.204T>G (p.Ser68=)
|
rs372697822
|
|
NM_001040716.2(PC):c.2067C>T (p.Gly689=)
|
|
|
NM_001040716.2(PC):c.2085T>C (p.Ser695=)
|
rs2135804147
|
|
NM_001040716.2(PC):c.2100G>T (p.Val700=)
|
|
|
NM_001040716.2(PC):c.2103G>A (p.Glu701=)
|
|
|
NM_001040716.2(PC):c.2113_2114del (p.Ser705fs)
|
|
|
NM_001040716.2(PC):c.2114C>A (p.Ser705Ter)
|
rs113994146
|
|
NM_001040716.2(PC):c.2121G>C (p.Thr707=)
|
|
|
NM_001040716.2(PC):c.2130G>T (p.Val710=)
|
rs2135803710
|
|
NM_001040716.2(PC):c.2134G>A (p.Asp712Asn)
|
|
|
NM_001040716.2(PC):c.2136C>T (p.Asp712=)
|
|
|
NM_001040716.2(PC):c.2139C>T (p.Pro713=)
|
rs1212515265
|
|
NM_001040716.2(PC):c.213C>T (p.Asp71=)
|
rs2135942518
|
|
NM_001040716.2(PC):c.2142C>G (p.Ser714Arg)
|
rs1945464815
|
|
NM_001040716.2(PC):c.2143C>T (p.Arg715Cys)
|
rs1945464671
|
|
NM_001040716.2(PC):c.2151G>A (p.Lys717=)
|
rs1591119216
|
|
NM_001040716.2(PC):c.2156_2159del (p.Ser719fs)
|
rs2135803326
|
|
NM_001040716.2(PC):c.2157A>G (p.Ser719=)
|
rs2135803352
|
|
NM_001040716.2(PC):c.215C>T (p.Thr72Met)
|
|
|
NM_001040716.2(PC):c.2160G>A (p.Leu720=)
|
rs1945463615
|
|
NM_001040716.2(PC):c.2163G>A (p.Gln721=)
|
|
|
NM_001040716.2(PC):c.2164T>C (p.Tyr722His)
|
|
|
NM_001040716.2(PC):c.216G>C (p.Thr72=)
|
rs117711892
|
|
NM_001040716.2(PC):c.2170A>T (p.Met724Leu)
|
|
|
NM_001040716.2(PC):c.2178G>A (p.Leu726=)
|
|
|
NM_001040716.2(PC):c.2181C>T (p.Ala727=)
|
rs761189138
|
|
NM_001040716.2(PC):c.2182G>A (p.Glu728Lys)
|
rs193271416
|
|
NM_001040716.2(PC):c.2185del (p.Glu729fs)
|
|
|
NM_001040716.2(PC):c.2187G>A (p.Glu729=)
|
|
|
NM_001040716.2(PC):c.2192T>C (p.Val731Ala)
|
|
|
NM_001040716.2(PC):c.2193G>C (p.Val731=)
|
|
|
NM_001040716.2(PC):c.2205C>T (p.Thr735=)
|
rs2135802801
|
|
NM_001040716.2(PC):c.2209A>G (p.Ile737Val)
|
|
|
NM_001040716.2(PC):c.220C>T (p.Gln74Ter)
|
|
|
NM_001040716.2(PC):c.2223+11C>G
|
|
|
NM_001040716.2(PC):c.2223+13C>T
|
rs2135802616
|
|
NM_001040716.2(PC):c.2223+17T>C
|
|
|
NM_001040716.2(PC):c.2223+18C>T
|
|
|
NM_001040716.2(PC):c.2223+4C>A
|
|
|
NM_001040716.2(PC):c.2223+7G>T
|
|
|
NM_001040716.2(PC):c.2223+8G>A
|
|
|
NM_001040716.2(PC):c.2223+9G>A
|
|
|
NM_001040716.2(PC):c.2224-13C>T
|
|
|
NM_001040716.2(PC):c.2224-13_2224-12del
|
|
|
NM_001040716.2(PC):c.2224-15T>A
|
|
|
NM_001040716.2(PC):c.2224-15T>C
|
|
|
NM_001040716.2(PC):c.2224-16_2224-9dup
|
rs2135801603
|
|
NM_001040716.2(PC):c.2224-18C>T
|
|
|
NM_001040716.2(PC):c.2224-20C>G
|
|
|
NM_001040716.2(PC):c.2224-20C>T
|
|
|
NM_001040716.2(PC):c.2224-31TC[10]
|
rs139065746
|
|
NM_001040716.2(PC):c.2224-31TC[11]
|
rs139065746
|
|
NM_001040716.2(PC):c.2224-31TC[12]
|
|
|
NM_001040716.2(PC):c.2224-31TC[7]
|
|
|
NM_001040716.2(PC):c.2224-31TC[8]
|
rs139065746
|
|
NM_001040716.2(PC):c.2224-3del
|
rs1292656088
|
|
NM_001040716.2(PC):c.2224-6C>T
|
|
|
NM_001040716.2(PC):c.2224-7C>T
|
rs375657263
|
|
NM_001040716.2(PC):c.2224-9T>C
|
|
|
NM_001040716.2(PC):c.2227A>G (p.Met743Val)
|
rs1591118129
|
|
NM_001040716.2(PC):c.2229G>T (p.Met743Ile)
|
rs28940590
|
|
NM_001040716.2(PC):c.2232C>G (p.Ala744=)
|
rs763631086
|
|
NM_001040716.2(PC):c.2232C>T (p.Ala744=)
|
rs763631086
|
|
NM_001040716.2(PC):c.2244G>A (p.Lys748=)
|
|
|
NM_001040716.2(PC):c.2250G>A (p.Thr750=)
|
rs760695580
|
|
NM_001040716.2(PC):c.2253C>T (p.Ala751=)
|
rs773060730
|
|
NM_001040716.2(PC):c.2253del (p.Cys752fs)
|
|
|
NM_001040716.2(PC):c.2256C>T (p.Cys752=)
|
rs1209420938
|
|
NM_001040716.2(PC):c.2265G>C (p.Leu755=)
|
|
|
NM_001040716.2(PC):c.2271C>T (p.Ser757=)
|
|
|
NM_001040716.2(PC):c.2274C>A (p.Ser758=)
|
rs930022211
|
|
NM_001040716.2(PC):c.2278C>T (p.Arg760Trp)
|
rs563526275
|
|
NM_001040716.2(PC):c.2281G>A (p.Asp761Asn)
|
rs1945442151
|
|
NM_001040716.2(PC):c.2285G>A (p.Arg762His)
|
|
|
NM_001040716.2(PC):c.2285G>C (p.Arg762Pro)
|
|
|
NM_001040716.2(PC):c.2292C>G (p.Pro764=)
|
rs757918962
|
|
NM_001040716.2(PC):c.2292del (p.Asp765fs)
|
|
|
NM_001040716.2(PC):c.2293G>A (p.Asp765Asn)
|
|
|
NM_001040716.2(PC):c.2298C>A (p.Leu766=)
|
rs2135800527
|
|
NM_001040716.2(PC):c.229C>T (p.Arg77Trp)
|
rs928225163
|
|
NM_001040716.2(PC):c.2320G>A (p.Asp774Asn)
|
rs1453225876
|
|
NM_001040716.2(PC):c.2328A>G (p.Ser776=)
|
|
|
NM_001040716.2(PC):c.2328_2329del (p.Ala778fs)
|
rs2135800153
|
|
NM_001040716.2(PC):c.2333C>T (p.Ala778Val)
|
rs1272540070
|
|
NM_001040716.2(PC):c.2337C>T (p.Gly779=)
|
|
|
NM_001040716.2(PC):c.2338G>T (p.Val780Leu)
|
rs572440768
|
|
NM_001040716.2(PC):c.2342C>T (p.Ala781Val)
|
rs2135799932
|
|
NM_001040716.2(PC):c.2355C>A (p.Ala785=)
|
|
|
NM_001040716.2(PC):c.2355C>T (p.Ala785=)
|
rs1591117204
|
|
NM_001040716.2(PC):c.2359dup (p.Ala787fs)
|
|
|
NM_001040716.2(PC):c.2369del (p.Gly790fs)
|
|
|
NM_001040716.2(PC):c.2379G>A (p.Val793=)
|
rs1002940972
|
|
NM_001040716.2(PC):c.2380G>C (p.Val794Leu)
|
|
|
NM_001040716.2(PC):c.2385T>C (p.Asp795=)
|
|
|
NM_001040716.2(PC):c.239_240insCTTGA (p.Asp81fs)
|
|
|
NM_001040716.2(PC):c.240A>G (p.Ala80=)
|
|
|
NM_001040716.2(PC):c.240A>T (p.Ala80=)
|
rs768997498
|
|
NM_001040716.2(PC):c.2413_2415delinsTGTATAAGAGACAG (p.Thr805fs)
|
|
|
NM_001040716.2(PC):c.2423C>A (p.Pro808His)
|
rs1591116883
|
|
NM_001040716.2(PC):c.2424C>G (p.Pro808=)
|
rs2135798968
|
|
NM_001040716.2(PC):c.2433G>T (p.Gly811=)
|
rs2135798894
|
|
NM_001040716.2(PC):c.2435C>A (p.Ala812Asp)
|
rs2135798857
|
|
NM_001040716.2(PC):c.2436C>T (p.Ala812=)
|
|
|
NM_001040716.2(PC):c.2447G>A (p.Cys816Tyr)
|
rs1235315835
|
|
NM_001040716.2(PC):c.2448T>C (p.Cys816=)
|
|
|
NM_001040716.2(PC):c.2453G>C (p.Arg818Thr)
|
|
|
NM_001040716.2(PC):c.2454A>G (p.Arg818=)
|
|
|
NM_001040716.2(PC):c.2457G>A (p.Gly819=)
|
|
|
NM_001040716.2(PC):c.2463C>T (p.Pro821=)
|
rs2135798570
|
|
NM_001040716.2(PC):c.2466G>C (p.Leu822=)
|
|
|
NM_001040716.2(PC):c.246A>G (p.Glu82=)
|
|
|
NM_001040716.2(PC):c.2473+10_2473+12del
|
|
|
NM_001040716.2(PC):c.2473+11C>T
|
|
|
NM_001040716.2(PC):c.2473+16G>C
|
|
|
NM_001040716.2(PC):c.2473+18C>T
|
|
|
NM_001040716.2(PC):c.2473+19C>T
|
|
|
NM_001040716.2(PC):c.2473+1G>C
|
rs1304770743
|
|
NM_001040716.2(PC):c.2473+20G>A
|
rs776906176
|
|
NM_001040716.2(PC):c.2473+20G>T
|
rs776906176
|
|
NM_001040716.2(PC):c.2473+2T>C
|
|
|
NM_001040716.2(PC):c.2473+2_2473+5del
|
|
|
NM_001040716.2(PC):c.2473+7A>G
|
rs2135798430
|
|
NM_001040716.2(PC):c.2474-10C>T
|
|
|
NM_001040716.2(PC):c.2474-11C>T
|
|
|
NM_001040716.2(PC):c.2474-15_2474-14del
|
|
|
NM_001040716.2(PC):c.2474-16T>C
|
|
|
NM_001040716.2(PC):c.2474-17C>T
|
|
|
NM_001040716.2(PC):c.2474-18_2474-13del
|
|
|
NM_001040716.2(PC):c.2474-22_2474-20del
|
|
|
NM_001040716.2(PC):c.2474-4G>A
|
rs2135796905
|
|
NM_001040716.2(PC):c.2474-5T>C
|
rs2135796924
|
|
NM_001040716.2(PC):c.2474-9T>C
|
|
|
NM_001040716.2(PC):c.2478G>C (p.Val826=)
|
rs928352255
|
|
NM_001040716.2(PC):c.2482A>G (p.Met828Val)
|
|
|
NM_001040716.2(PC):c.248_249insACTCACCCAAGAT (p.Tyr84fs)
|
|
|
NM_001040716.2(PC):c.2490C>A (p.Arg830=)
|
rs373079885
|
|
NM_001040716.2(PC):c.2492T>C (p.Val831Ala)
|
|
|
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer)
|
rs756355930
|
|
NM_001040716.2(PC):c.2494T>A (p.Phe832Ile)
|
rs1945409904
|
|
NM_001040716.2(PC):c.249C>T (p.Ala83=)
|
|
|
NM_001040716.2(PC):c.2502C>T (p.Tyr834=)
|
|
|
NM_001040716.2(PC):c.2511_2531dup (p.Leu844_Tyr845insTrpGluGlyAlaArgGlyLeu)
|
|
|
NM_001040716.2(PC):c.2523T>C (p.Ala841=)
|
|
|
NM_001040716.2(PC):c.2532G>A (p.Leu844=)
|
rs1188416837
|
|
NM_001040716.2(PC):c.2532_2533del (p.Tyr845fs)
|
|
|
NM_001040716.2(PC):c.2535C>A (p.Tyr845Ter)
|
|
|
NM_001040716.2(PC):c.2544C>G (p.Phe848Leu)
|
rs1270012365
|
|
NM_001040716.2(PC):c.2559C>A (p.Thr853=)
|
rs1255691208
|
|
NM_001040716.2(PC):c.2559C>T (p.Thr853=)
|
|
|
NM_001040716.2(PC):c.2567C>G (p.Ser856Cys)
|
|
|
NM_001040716.2(PC):c.2568T>G (p.Ser856=)
|
rs2135795793
|
|
NM_001040716.2(PC):c.256A>G (p.Ile86Val)
|
rs1946744013
|
|
NM_001040716.2(PC):c.2576C>A (p.Ser859Ter)
|
|
|
NM_001040716.2(PC):c.2581del (p.Val861fs)
|
rs2135795582
|
|
NM_001040716.2(PC):c.2591dup (p.Asn864fs)
|
|
|
NM_001040716.2(PC):c.2592T>C (p.Asn864=)
|
rs375784582
|
|
NM_001040716.2(PC):c.259G>A (p.Gly87Ser)
|
|
|
NM_001040716.2(PC):c.259G>C (p.Gly87Arg)
|
rs770055702
|
|
NM_001040716.2(PC):c.2604G>A (p.Gly868=)
|
rs2135795366
|
|
NM_001040716.2(PC):c.2605G>A (p.Gly869Ser)
|
|
|
NM_001040716.2(PC):c.2605_2610dup (p.Gly869_Gln870dup)
|
rs1555015012
|
|
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp)
|
rs1555015018
|
|
NM_001040716.2(PC):c.2606G>C (p.Gly869Ala)
|
rs1555015018
|
|
NM_001040716.2(PC):c.2607C>T (p.Gly869=)
|
|
|
NM_001040716.2(PC):c.2613C>A (p.Tyr871Ter)
|
|
|
NM_001040716.2(PC):c.2613C>T (p.Tyr871=)
|
|
|
NM_001040716.2(PC):c.2620C>T (p.Leu874=)
|
|
|
NM_001040716.2(PC):c.2623C>T (p.His875Tyr)
|
|
|
NM_001040716.2(PC):c.2638A>G (p.Ser880Gly)
|
|
|
NM_001040716.2(PC):c.2646G>A (p.Gly882=)
|
rs2135794916
|
|
NM_001040716.2(PC):c.2661C>T (p.Phe887=)
|
|
|
NM_001040716.2(PC):c.2667G>A (p.Glu889=)
|
|
|
NM_001040716.2(PC):c.2667G>C (p.Glu889Asp)
|
rs1006994126
|
|
NM_001040716.2(PC):c.2668G>T (p.Val890Phe)
|
rs1555014957
|
|
NM_001040716.2(PC):c.2674A>T (p.Lys892Ter)
|
|
|
NM_001040716.2(PC):c.2679C>T (p.Ala893=)
|
rs1945398542
|
|
NM_001040716.2(PC):c.2685G>A (p.Val895=)
|
|
|
NM_001040716.2(PC):c.2688G>A (p.Glu896=)
|
|
|
NM_001040716.2(PC):c.2691C>T (p.Ala897=)
|
rs2135794398
|
|
NM_001040716.2(PC):c.2695del (p.Gln899fs)
|
|
|
NM_001040716.2(PC):c.2705G>A (p.Gly902Asp)
|
rs886048555
|
|
NM_001040716.2(PC):c.2711TCA[1] (p.Ile905del)
|
rs1555014903
|
|
NM_001040716.2(PC):c.2712C>T (p.Leu904=)
|
rs1315876821
|
|
NM_001040716.2(PC):c.2715C>T (p.Ile905=)
|
|
|
NM_001040716.2(PC):c.2718+10G>C
|
|
|
NM_001040716.2(PC):c.2718+12_2718+13dup
|
|
|
NM_001040716.2(PC):c.2718+13C>A
|
|
|
NM_001040716.2(PC):c.2718+13C>T
|
|
|
NM_001040716.2(PC):c.2718+17G>A
|
|
|
NM_001040716.2(PC):c.2718+8C>A
|
rs375215292
|
|
NM_001040716.2(PC):c.2718+8C>T
|
rs375215292
|
|
NM_001040716.2(PC):c.2718+9G>C
|
rs201942341
|
|
NM_001040716.2(PC):c.2719-12C>T
|
|
|
NM_001040716.2(PC):c.2719-13G>A
|
|
|
NM_001040716.2(PC):c.2719-14G>T
|
|
|
NM_001040716.2(PC):c.2719-18C>T
|
|
|
NM_001040716.2(PC):c.2719-19T>G
|
|
|
NM_001040716.2(PC):c.2719-20C>T
|
|
|
NM_001040716.2(PC):c.2719-5C>T
|
|
|
NM_001040716.2(PC):c.2719-5_2719-3del
|
rs566558597
|
|
NM_001040716.2(PC):c.2723C>T (p.Thr908Met)
|
rs796052032
|
|
NM_001040716.2(PC):c.2727C>G (p.Pro909=)
|
|
|
NM_001040716.2(PC):c.2733C>T (p.Ser911=)
|
|
|
NM_001040716.2(PC):c.2745G>A (p.Gly915=)
|
rs2135792943
|
|
NM_001040716.2(PC):c.2746dup (p.Asp916fs)
|
|
|
NM_001040716.2(PC):c.2755C>A (p.Gln919Lys)
|
|
|
NM_001040716.2(PC):c.2766G>A (p.Val922=)
|
rs1591113979
|
|
NM_001040716.2(PC):c.276C>G (p.Pro92=)
|
rs1475855830
|
|
NM_001040716.2(PC):c.276C>T (p.Pro92=)
|
rs1475855830
|
|
NM_001040716.2(PC):c.2772T>C (p.Asn924=)
|
|
|
NM_001040716.2(PC):c.2778G>A (p.Leu926=)
|
|
|
NM_001040716.2(PC):c.2782C>T (p.Arg928Trp)
|
|
|
NM_001040716.2(PC):c.2787A>G (p.Ala929=)
|
rs2135792546
|
|
NM_001040716.2(PC):c.2790G>A (p.Glu930=)
|
|
|
NM_001040716.2(PC):c.2793C>G (p.Ala931=)
|
rs749960473
|
|
NM_001040716.2(PC):c.279G>T (p.Val93=)
|
|
|
NM_001040716.2(PC):c.2800C>T (p.Gln934Ter)
|
|
|
NM_001040716.2(PC):c.2804_2805del (p.Ala935fs)
|
|
|
NM_001040716.2(PC):c.2805G>T (p.Ala935=)
|
|
|
NM_001040716.2(PC):c.280C>T (p.Gln94Ter)
|
|
|
NM_001040716.2(PC):c.2812C>T (p.Leu938=)
|
|
|
NM_001040716.2(PC):c.2814G>A (p.Leu938=)
|
|
|
NM_001040716.2(PC):c.2817C>T (p.Ser939=)
|
|
|
NM_001040716.2(PC):c.281_282insCCTT (p.Gln94fs)
|
|
|
NM_001040716.2(PC):c.2820T>C (p.Phe940=)
|
|
|
NM_001040716.2(PC):c.2825G>A (p.Arg942His)
|
|
|
NM_001040716.2(PC):c.2826C>A (p.Arg942=)
|
|
|
NM_001040716.2(PC):c.2832G>A (p.Val944=)
|
|
|
NM_001040716.2(PC):c.2850C>A (p.Gly950=)
|
|
|
NM_001040716.2(PC):c.2852A>G (p.Tyr951Cys)
|
rs2135791974
|
|
NM_001040716.2(PC):c.2862C>T (p.Val954=)
|
|
|
NM_001040716.2(PC):c.2865C>T (p.Pro955=)
|
|
|
NM_001040716.2(PC):c.2866dup (p.His956fs)
|
|
|
NM_001040716.2(PC):c.2868T>C (p.His956=)
|
rs1945375758
|
|
NM_001040716.2(PC):c.2874G>A (p.Gly958=)
|
rs1131855
|
|
NM_001040716.2(PC):c.2874dup (p.Phe959fs)
|
|
|
NM_001040716.2(PC):c.2876dup (p.Glu961fs)
|
rs1565209327
|
|
NM_001040716.2(PC):c.2898+10G>C
|
rs2135791382
|
|
NM_001040716.2(PC):c.2898+11C>T
|
|
|
NM_001040716.2(PC):c.2898+12C>G
|
|
|
NM_001040716.2(PC):c.2898+14A>G
|
|
|
NM_001040716.2(PC):c.2898+15G>C
|
|
|
NM_001040716.2(PC):c.2898+17A>G
|
|
|
NM_001040716.2(PC):c.2898+2T>C
|
rs2135791416
|
|
NM_001040716.2(PC):c.2898+2_2898+5del
|
|
|
NM_001040716.2(PC):c.2899-14G>C
|
|
|
NM_001040716.2(PC):c.2899-18C>T
|
|
|
NM_001040716.2(PC):c.2899-20T>G
|
|
|
NM_001040716.2(PC):c.2899-3del
|
rs752139338
|
|
NM_001040716.2(PC):c.2899-4C>A
|
|
|
NM_001040716.2(PC):c.2899-7T>C
|
|
|
NM_001040716.2(PC):c.2899-9G>C
|
rs372755874
|
|
NM_001040716.2(PC):c.2899-9G>T
|
rs372755874
|
|
NM_001040716.2(PC):c.2902C>G (p.Leu968Val)
|
|
|
NM_001040716.2(PC):c.2907G>A (p.Lys969=)
|
|
|
NM_001040716.2(PC):c.2913G>A (p.Leu971=)
|
|
|
NM_001040716.2(PC):c.2925G>A (p.Glu975=)
|
|
|
NM_001040716.2(PC):c.2940C>T (p.Ala980=)
|
|
|
NM_001040716.2(PC):c.2942C>T (p.Ser981Phe)
|
|
|
NM_001040716.2(PC):c.2943C>T (p.Ser981=)
|
|
|
NM_001040716.2(PC):c.2946C>T (p.Leu982=)
|
rs2135790495
|
|
NM_001040716.2(PC):c.2948dup (p.Pro984fs)
|
|
|
NM_001040716.2(PC):c.2949T>C (p.Pro983=)
|
|
|
NM_001040716.2(PC):c.2952C>G (p.Pro984=)
|
|
|
NM_001040716.2(PC):c.2952C>T (p.Pro984=)
|
rs1945360928
|
|
NM_001040716.2(PC):c.2953del (p.Leu985fs)
|
rs2135790424
|
|
NM_001040716.2(PC):c.295del (p.Ile99fs)
|
|
|
NM_001040716.2(PC):c.2970G>A (p.Leu990=)
|
rs2062718859
|
|
NM_001040716.2(PC):c.2971G>T (p.Glu991Ter)
|
|
|
NM_001040716.2(PC):c.2973G>A (p.Glu991=)
|
|
|
NM_001040716.2(PC):c.2974_2976del (p.Lys992del)
|
rs751225998
|
|
NM_001040716.2(PC):c.2976G>C (p.Lys992Asn)
|
rs368895283
|
|
NM_001040716.2(PC):c.297C>A (p.Ile99=)
|
|
|
NM_001040716.2(PC):c.297C>T (p.Ile99=)
|
|
|
NM_001040716.2(PC):c.2989C>T (p.Arg997Trp)
|
|
|
NM_001040716.2(PC):c.2990G>A (p.Arg997Gln)
|
|
|
NM_001040716.2(PC):c.2994T>C (p.His998=)
|
|
|
NM_001040716.2(PC):c.3004G>A (p.Val1002Met)
|
rs1289376036
|
|
NM_001040716.2(PC):c.3006G>T (p.Val1002=)
|
rs1457181158
|
|
NM_001040716.2(PC):c.3008del (p.Thr1003fs)
|
|
|
NM_001040716.2(PC):c.3021G>A (p.Val1007=)
|
rs1945357309
|
|
NM_001040716.2(PC):c.3027A>G (p.Ser1009=)
|
|
|
NM_001040716.2(PC):c.3030A>G (p.Ala1010=)
|
rs1591112523
|
|
NM_001040716.2(PC):c.3039C>T (p.Tyr1013=)
|
rs1487683285
|
|
NM_001040716.2(PC):c.3042C>G (p.Pro1014=)
|
|
|
NM_001040716.2(PC):c.3045T>C (p.Asp1015=)
|
rs1945355490
|
|
NM_001040716.2(PC):c.3051T>A (p.Phe1017Leu)
|
|
|
NM_001040716.2(PC):c.3054C>T (p.Ala1018=)
|
|
|
NM_001040716.2(PC):c.3056A>G (p.His1019Arg)
|
|
|
NM_001040716.2(PC):c.3060C>T (p.Phe1020=)
|
rs1439546768
|
|
NM_001040716.2(PC):c.3066C>T (p.Asp1022=)
|
rs2135789388
|
|
NM_001040716.2(PC):c.3069C>T (p.Phe1023=)
|
rs753587788
|
|
NM_001040716.2(PC):c.306C>T (p.Ile102=)
|
|
|
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
|
|
|
NM_001040716.2(PC):c.309C>T (p.Ile103=)
|
|
|
NM_001040716.2(PC):c.3102_3103dup (p.Thr1035fs)
|
|
|
NM_001040716.2(PC):c.3102dup (p.Thr1035fs)
|
rs2135789146
|
|
NM_001040716.2(PC):c.3114C>T (p.Phe1038=)
|
|
|
NM_001040716.2(PC):c.3117G>A (p.Leu1039=)
|
rs759899977
|
|
NM_001040716.2(PC):c.3117G>T (p.Leu1039=)
|
rs759899977
|
|
NM_001040716.2(PC):c.3119A>G (p.Gln1040Arg)
|
|
|
NM_001040716.2(PC):c.311A>T (p.Lys104Met)
|
|
|
NM_001040716.2(PC):c.3122_3126del (p.Gly1041fs)
|
|
|
NM_001040716.2(PC):c.3127A>G (p.Lys1043Glu)
|
rs1470869408
|
|
NM_001040716.2(PC):c.3137_3138del (p.Glu1046fs)
|
|
|
NM_001040716.2(PC):c.3141G>A (p.Glu1047=)
|
|
|
NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs)
|
rs1555014332
|
|
NM_001040716.2(PC):c.3146_3147+1del
|
|
|
NM_001040716.2(PC):c.3147+10T>C
|
|
|
NM_001040716.2(PC):c.3147+19T>A
|
|
|
NM_001040716.2(PC):c.3147+2T>C
|
rs2135788673
|
|
NM_001040716.2(PC):c.3147+7G>C
|
rs1945349703
|
|
NM_001040716.2(PC):c.3148-12C>T
|
|
|
NM_001040716.2(PC):c.3148-19C>G
|
|
|
NM_001040716.2(PC):c.3148-4G>A
|
|
|
NM_001040716.2(PC):c.3148-4G>C
|
rs2135786822
|
|
NM_001040716.2(PC):c.3148-9T>A
|
|
|
NM_001040716.2(PC):c.3154C>T (p.Leu1052=)
|
rs2135786784
|
|
NM_001040716.2(PC):c.3164del (p.Gly1055fs)
|
rs2135786710
|
|
NM_001040716.2(PC):c.3165C>A (p.Gly1055=)
|
|
|
NM_001040716.2(PC):c.316G>T (p.Ala106Ser)
|
rs868221703
|
|
NM_001040716.2(PC):c.3170del (p.Thr1057fs)
|
|
|
NM_001040716.2(PC):c.3171G>T (p.Thr1057=)
|
|
|
NM_001040716.2(PC):c.3180C>T (p.Ile1060=)
|
rs745677173
|
|
NM_001040716.2(PC):c.3182A>G (p.Lys1061Arg)
|
|
|
NM_001040716.2(PC):c.3187C>T (p.Leu1063=)
|
|
|
NM_001040716.2(PC):c.3189G>A (p.Leu1063=)
|
|
|
NM_001040716.2(PC):c.3190del (p.Ala1064fs)
|
rs2135786512
|
|
NM_001040716.2(PC):c.3193G>A (p.Val1065Met)
|
|
|
NM_001040716.2(PC):c.3195G>A (p.Val1065=)
|
|
|
NM_001040716.2(PC):c.3199G>A (p.Asp1067Asn)
|
|
|
NM_001040716.2(PC):c.3207C>T (p.Asn1069=)
|
|
|
NM_001040716.2(PC):c.3208C>T (p.Arg1070Trp)
|
|
|
NM_001040716.2(PC):c.3209G>A (p.Arg1070Gln)
|
|
|
NM_001040716.2(PC):c.321+10G>C
|
|
|
NM_001040716.2(PC):c.321+11T>A
|
|
|
NM_001040716.2(PC):c.321+12G>C
|
rs2135941845
|
|
NM_001040716.2(PC):c.321+13G>A
|
|
|
NM_001040716.2(PC):c.321+19C>G
|
|
|
NM_001040716.2(PC):c.321+1G>T
|
rs2135941937
|
|
NM_001040716.2(PC):c.321+20T>C
|
|
|
NM_001040716.2(PC):c.321+8C>T
|
|
|
NM_001040716.2(PC):c.321+9A>G
|
|
|
NM_001040716.2(PC):c.3212C>G (p.Ala1071Gly)
|
rs149583113
|
|
NM_001040716.2(PC):c.3213C>G (p.Ala1071=)
|
|
|
NM_001040716.2(PC):c.3216C>T (p.Gly1072=)
|
|
|
NM_001040716.2(PC):c.322-12C>T
|
|
|
NM_001040716.2(PC):c.322-16T>G
|
|
|
NM_001040716.2(PC):c.322-17C>T
|
|
|
NM_001040716.2(PC):c.322-2A>G
|
rs2135940951
|
|
NM_001040716.2(PC):c.322-4G>T
|
|
|
NM_001040716.2(PC):c.322-8A>G
|
rs778409831
|
|
NM_001040716.2(PC):c.322-9dup
|
rs2135941001
|
|
NM_001040716.2(PC):c.3222G>A (p.Arg1074=)
|
|
|
NM_001040716.2(PC):c.3225G>A (p.Gln1075=)
|
rs933670600
|
|
NM_001040716.2(PC):c.3228C>T (p.Val1076=)
|
|
|
NM_001040716.2(PC):c.3228CTT[1] (p.Phe1078del)
|
rs1555014068
|
|
NM_001040716.2(PC):c.3237G>A (p.Glu1079=)
|
rs1447561812
|
|
NM_001040716.2(PC):c.3240C>T (p.Leu1080=)
|
rs1591110612
|
|
NM_001040716.2(PC):c.3246G>A (p.Gly1082=)
|
rs2135785870
|
|
NM_001040716.2(PC):c.3249G>A (p.Gln1083=)
|
rs374682909
|
|
NM_001040716.2(PC):c.3249G>T (p.Gln1083His)
|
|
|
NM_001040716.2(PC):c.324G>A (p.Glu108=)
|
rs2135940927
|
|
NM_001040716.2(PC):c.3258C>T (p.Ser1086=)
|
|
|
NM_001040716.2(PC):c.3267C>T (p.Val1089=)
|
rs746903912
|
|
NM_001040716.2(PC):c.327C>T (p.Asn109=)
|
rs2135940914
|
|
NM_001040716.2(PC):c.3284dup (p.Met1095fs)
|
|
|
NM_001040716.2(PC):c.3288+10C>T
|
|
|
NM_001040716.2(PC):c.3288+11C>A
|
|
|
NM_001040716.2(PC):c.3288+12C>G
|
|
|
NM_001040716.2(PC):c.3288+13C>T
|
|
|
NM_001040716.2(PC):c.3288+14C>T
|
|
|
NM_001040716.2(PC):c.3288+14del
|
|
|
NM_001040716.2(PC):c.3288+16G>A
|
|
|
NM_001040716.2(PC):c.3288+17G>A
|
|
|
NM_001040716.2(PC):c.3288+1G>A
|
|
|
NM_001040716.2(PC):c.3288+1G>T
|
rs2135785399
|
|
NM_001040716.2(PC):c.3288+2T>C
|
rs2135785388
|
|
NM_001040716.2(PC):c.3288+4T>C
|
|
|
NM_001040716.2(PC):c.3288+5T>C
|
rs1945323792
|
|
NM_001040716.2(PC):c.3288+8C>T
|
rs2135785319
|
|
NM_001040716.2(PC):c.3289-10G>A
|
|
|
NM_001040716.2(PC):c.3289-10G>C
|
rs529411023
|
|
NM_001040716.2(PC):c.3289-10G>T
|
|
|
NM_001040716.2(PC):c.3289-11T>C
|
|
|
NM_001040716.2(PC):c.3289-12C>T
|
|
|
NM_001040716.2(PC):c.3289-17C>T
|
|
|
NM_001040716.2(PC):c.3289-20C>T
|
|
|
NM_001040716.2(PC):c.3289-23_3289-20dup
|
|
|
NM_001040716.2(PC):c.3289-8del
|
rs2135784540
|
|
NM_001040716.2(PC):c.3297C>T (p.His1099=)
|
rs781571109
|
|
NM_001040716.2(PC):c.329dup (p.Asn110fs)
|
|
|
NM_001040716.2(PC):c.3306dup (p.Lys1103fs)
|
rs1324931037
|
|
NM_001040716.2(PC):c.3309G>A (p.Lys1103=)
|
|
|
NM_001040716.2(PC):c.330C>T (p.Asn110=)
|
|
|
NM_001040716.2(PC):c.3312C>T (p.Ala1104=)
|
|
|
NM_001040716.2(PC):c.3316A>T (p.Lys1106Ter)
|
|
|
NM_001040716.2(PC):c.3318G>A (p.Lys1106=)
|
rs2135784251
|
|
NM_001040716.2(PC):c.3324G>A (p.Val1108=)
|
|
|
NM_001040716.2(PC):c.3336C>A (p.Ile1112=)
|
rs776196411
|
|
NM_001040716.2(PC):c.3342G>T (p.Ala1114=)
|
|
|
NM_001040716.2(PC):c.3344C>T (p.Pro1115Leu)
|
rs2135783978
|
|
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs)
|
rs1555013840
|
|
NM_001040716.2(PC):c.3360G>A (p.Val1120=)
|
|
|
NM_001040716.2(PC):c.3362_3363del (p.Ile1121fs)
|
|
|
NM_001040716.2(PC):c.3369C>T (p.Ile1123=)
|
|
|
NM_001040716.2(PC):c.336T>C (p.Asp112=)
|
|
|
NM_001040716.2(PC):c.3375G>C (p.Val1125=)
|
rs1945311797
|
|
NM_001040716.2(PC):c.3377_3392del (p.Val1126fs)
|
|
|
NM_001040716.2(PC):c.3378G>A (p.Val1126=)
|
rs753201697
|
|
NM_001040716.2(PC):c.3378G>C (p.Val1126=)
|
rs753201697
|
|
NM_001040716.2(PC):c.3380C>T (p.Ala1127Val)
|
rs200217380
|
|
NM_001040716.2(PC):c.3384G>A (p.Gly1128=)
|
rs145167276
|
|
NM_001040716.2(PC):c.3384G>T (p.Gly1128=)
|
|
|
NM_001040716.2(PC):c.3386C>T (p.Ala1129Val)
|
|
|
NM_001040716.2(PC):c.3387C>G (p.Ala1129=)
|
rs761578681
|
|
NM_001040716.2(PC):c.3387C>T (p.Ala1129=)
|
|
|
NM_001040716.2(PC):c.3387del (p.Lys1130fs)
|
rs2135783409
|
|
NM_001040716.2(PC):c.3390G>A (p.Lys1130=)
|
rs200166901
|
|
NM_001040716.2(PC):c.3394G>A (p.Ala1132Thr)
|
|
|
NM_001040716.2(PC):c.3396C>T (p.Ala1132=)
|
|
|
NM_001040716.2(PC):c.3399G>A (p.Lys1133=)
|
rs776825183
|
|
NM_001040716.2(PC):c.339A>C (p.Ala113=)
|
|
|
NM_001040716.2(PC):c.339A>G (p.Ala113=)
|
|
|
NM_001040716.2(PC):c.3405G>A (p.Gln1135=)
|
rs747244374
|
|
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs)
|
rs113994148
|
|
NM_001040716.2(PC):c.3414T>C (p.Cys1138=)
|
rs2135782929
|
|
NM_001040716.2(PC):c.342_343insTTATATT (p.His115fs)
|
|
|
NM_001040716.2(PC):c.3432G>A (p.Lys1144=)
|
|
|
NM_001040716.2(PC):c.3441T>C (p.Thr1147=)
|
|
|
NM_001040716.2(PC):c.3442G>T (p.Val1148Leu)
|
rs1298569042
|
|
NM_001040716.2(PC):c.3444G>A (p.Val1148=)
|
|
|
NM_001040716.2(PC):c.3447G>C (p.Val1149=)
|
|
|
NM_001040716.2(PC):c.3450C>G (p.Thr1150=)
|
|
|
NM_001040716.2(PC):c.3450C>T (p.Thr1150=)
|
|
|
NM_001040716.2(PC):c.3453A>T (p.Ser1151=)
|
rs571513074
|
|
NM_001040716.2(PC):c.3457A>G (p.Met1153Val)
|
|
|
NM_001040716.2(PC):c.345C>T (p.His115=)
|
rs2135940811
|
|
NM_001040716.2(PC):c.3462G>A (p.Glu1154=)
|
|
|
NM_001040716.2(PC):c.3462G>C (p.Glu1154Asp)
|
rs373287823
|
|
NM_001040716.2(PC):c.3474C>A (p.Arg1158=)
|
|
|
NM_001040716.2(PC):c.3475A>G (p.Lys1159Glu)
|
|
|
NM_001040716.2(PC):c.3477G>A (p.Lys1159=)
|
|
|
NM_001040716.2(PC):c.3489C>G (p.Thr1163=)
|
rs2135782288
|
|
NM_001040716.2(PC):c.3492G>A (p.Lys1164=)
|
|
|
NM_001040716.2(PC):c.3493G>T (p.Asp1165Tyr)
|
|
|
NM_001040716.2(PC):c.3496A>G (p.Met1166Val)
|
rs1945302855
|
|
NM_001040716.2(PC):c.3497T>C (p.Met1166Thr)
|
|
|
NM_001040716.2(PC):c.3501A>G (p.Thr1167=)
|
rs2135782194
|
|
NM_001040716.2(PC):c.3514G>T (p.Asp1172Tyr)
|
|
|
NM_001040716.2(PC):c.3519C>T (p.Leu1173=)
|
rs2135781997
|
|
NM_001040716.2(PC):c.3522C>T (p.Ile1174=)
|
|
|
NM_001040716.2(PC):c.3526G>A (p.Glu1176Lys)
|
|
|
NM_001040716.2(PC):c.3528G>A (p.Glu1176=)
|
|
|
NM_001040716.2(PC):c.3531C>A (p.Ile1177=)
|
rs144982348
|
|
NM_001040716.2(PC):c.3531C>T (p.Ile1177=)
|
rs144982348
|
|
NM_001040716.2(PC):c.357G>A (p.Gly119=)
|
rs2135940780
|
|
NM_001040716.2(PC):c.364del (p.Ser122fs)
|
|
|
NM_001040716.2(PC):c.366dup (p.Glu123Ter)
|
rs2135940752
|
|
NM_001040716.2(PC):c.370C>T (p.Arg124Ter)
|
|
|
NM_001040716.2(PC):c.372_375del (p.Ala125fs)
|
rs1565245427
|
|
NM_001040716.2(PC):c.396G>A (p.Gln132=)
|
rs776845894
|
|
NM_001040716.2(PC):c.39C>G (p.Leu13=)
|
rs1440597243
|
|
NM_001040716.2(PC):c.39C>T (p.Leu13=)
|
|
|
NM_001040716.2(PC):c.408C>T (p.Val136=)
|
|
|
NM_001040716.2(PC):c.410G>A (p.Arg137Gln)
|
|
|
NM_001040716.2(PC):c.410G>T (p.Arg137Leu)
|
rs772619045
|
|
NM_001040716.2(PC):c.420G>C (p.Gly140=)
|
|
|
NM_001040716.2(PC):c.420G>T (p.Gly140=)
|
|
|
NM_001040716.2(PC):c.426C>T (p.Ser142=)
|
rs1184131560
|
|
NM_001040716.2(PC):c.429A>G (p.Pro143=)
|
rs2135940395
|
|
NM_001040716.2(PC):c.42G>C (p.Leu14=)
|
rs2135944286
|
|
NM_001040716.2(PC):c.434T>C (p.Val145Ala)
|
rs28940591
|
|
NM_001040716.2(PC):c.439C>G (p.Arg147Gly)
|
rs529087425
|
|
NM_001040716.2(PC):c.439C>T (p.Arg147Cys)
|
|
|
NM_001040716.2(PC):c.446T>C (p.Met149Thr)
|
|
|
NM_001040716.2(PC):c.449_451dup (p.Gly150dup)
|
rs1946724126
|
|
NM_001040716.2(PC):c.44del (p.Gly15fs)
|
|
|
NM_001040716.2(PC):c.465C>G (p.Ala155=)
|
rs1336829179
|
|
NM_001040716.2(PC):c.465C>T (p.Ala155=)
|
rs1336829179
|
|
NM_001040716.2(PC):c.485C>T (p.Ala162Val)
|
rs752714051
|
|
NM_001040716.2(PC):c.487+11C>A
|
|
|
NM_001040716.2(PC):c.487+11C>T
|
|
|
NM_001040716.2(PC):c.488-17C>T
|
|
|
NM_001040716.2(PC):c.488-20C>T
|
|
|
NM_001040716.2(PC):c.488-6C>A
|
|
|
NM_001040716.2(PC):c.488-6C>T
|
rs2135939606
|
|
NM_001040716.2(PC):c.488-8C>T
|
|
|
NM_001040716.2(PC):c.492T>A (p.Val164=)
|
|
|
NM_001040716.2(PC):c.516C>T (p.Ala172=)
|
rs1946715352
|
|
NM_001040716.2(PC):c.519C>G (p.Pro173=)
|
|
|
NM_001040716.2(PC):c.525G>A (p.Thr175=)
|
rs370278016
|
|
NM_001040716.2(PC):c.525G>C (p.Thr175=)
|
rs370278016
|
|
NM_001040716.2(PC):c.52C>T (p.Arg18Ter)
|
rs144583275
|
|
NM_001040716.2(PC):c.531G>A (p.Leu177=)
|
rs2135939413
|
|
NM_001040716.2(PC):c.537G>A (p.Glu179=)
|
|
|
NM_001040716.2(PC):c.53G>A (p.Arg18Gln)
|
|
|
NM_001040716.2(PC):c.551C>G (p.Ser184Cys)
|
|
|
NM_001040716.2(PC):c.552C>T (p.Ser184=)
|
rs1591188749
|
|
NM_001040716.2(PC):c.562G>A (p.Gly188Ser)
|
|
|
NM_001040716.2(PC):c.563G>T (p.Gly188Val)
|
rs1946713663
|
|
NM_001040716.2(PC):c.564C>T (p.Gly188=)
|
|
|
NM_001040716.2(PC):c.567C>T (p.Phe189=)
|
rs746873070
|
|
NM_001040716.2(PC):c.570C>T (p.Pro190=)
|
rs1946713427
|
|
NM_001040716.2(PC):c.584C>T (p.Ala195Val)
|
rs1436643226
|
|
NM_001040716.2(PC):c.585G>A (p.Ala195=)
|
|
|
NM_001040716.2(PC):c.585G>C (p.Ala195=)
|
rs375925670
|
|
NM_001040716.2(PC):c.585G>T (p.Ala195=)
|
rs375925670
|
|
NM_001040716.2(PC):c.593_612del (p.Gly198fs)
|
|
|
NM_001040716.2(PC):c.597T>A (p.Gly199=)
|
rs1946712107
|
|
NM_001040716.2(PC):c.597_606delinsAA (p.Gly200fs)
|
|
|
NM_001040716.2(PC):c.600A>C (p.Gly200=)
|
|
|
NM_001040716.2(PC):c.60C>T (p.Ser20=)
|
rs1591192392
|
|
NM_001040716.2(PC):c.610A>C (p.Met204Leu)
|
|
|
NM_001040716.2(PC):c.615G>A (p.Arg205=)
|
rs2135939020
|
|
NM_001040716.2(PC):c.618G>A (p.Val206=)
|
rs2135938987
|
|
NM_001040716.2(PC):c.624C>T (p.His208=)
|
|
|
NM_001040716.2(PC):c.633+16C>T
|
|
|
NM_001040716.2(PC):c.633+38_633+58del
|
rs1213292231
|
|
NM_001040716.2(PC):c.633+8A>G
|
|
|
NM_001040716.2(PC):c.634-11C>T
|
|
|
NM_001040716.2(PC):c.634-12C>G
|
|
|
NM_001040716.2(PC):c.634-14G>C
|
|
|
NM_001040716.2(PC):c.634-14G>T
|
|
|
NM_001040716.2(PC):c.634-17C>G
|
|
|
NM_001040716.2(PC):c.634-17C>T
|
|
|
NM_001040716.2(PC):c.634-1G>A
|
|
|
NM_001040716.2(PC):c.634-4G>A
|
rs368096991
|
|
NM_001040716.2(PC):c.634-4G>C
|
|
|
NM_001040716.2(PC):c.634-4G>T
|
rs368096991
|
|
NM_001040716.2(PC):c.634-7C>G
|
|
|
NM_001040716.2(PC):c.639G>A (p.Leu213=)
|
|
|
NM_001040716.2(PC):c.651C>T (p.Tyr217=)
|
|
|
NM_001040716.2(PC):c.655C>A (p.Arg219=)
|
|
|
NM_001040716.2(PC):c.662A>T (p.Tyr221Phe)
|
|
|
NM_001040716.2(PC):c.667G>C (p.Glu223Gln)
|
|
|
NM_001040716.2(PC):c.66C>A (p.Ala22=)
|
rs1294478419
|
|
NM_001040716.2(PC):c.66C>T (p.Ala22=)
|
rs1294478419
|
|
NM_001040716.2(PC):c.675G>A (p.Leu225=)
|
|
|
NM_001040716.2(PC):c.681C>A (p.Ala227=)
|
rs375016949
|
|
NM_001040716.2(PC):c.681C>T (p.Ala227=)
|
|
|
NM_001040716.2(PC):c.696G>T (p.Ala232=)
|
|
|
NM_001040716.2(PC):c.699G>A (p.Leu233=)
|
|
|
NM_001040716.2(PC):c.69C>G (p.Pro23=)
|
rs758030072
|
|
NM_001040716.2(PC):c.69C>T (p.Pro23=)
|
rs758030072
|
|
NM_001040716.2(PC):c.6G>A (p.Leu2=)
|
|
|
NM_001040716.2(PC):c.706G>T (p.Glu236Ter)
|
|
|
NM_001040716.2(PC):c.723G>A (p.Lys241=)
|
rs2135937673
|
|
NM_001040716.2(PC):c.731_732insGGCTTGGGATGGAG (p.His244fs)
|
|
|
NM_001040716.2(PC):c.732C>T (p.His244=)
|
rs1322118579
|
|
NM_001040716.2(PC):c.736G>A (p.Glu246Lys)
|
|
|
NM_001040716.2(PC):c.747C>T (p.Ile249=)
|
rs566631933
|
|
NM_001040716.2(PC):c.751+10C>T
|
|
|
NM_001040716.2(PC):c.751+11C>A
|
|
|
NM_001040716.2(PC):c.751+15C>A
|
|
|
NM_001040716.2(PC):c.751+15C>T
|
rs202075789
|
|
NM_001040716.2(PC):c.751+16G>A
|
|
|
NM_001040716.2(PC):c.751+17C>T
|
|
|
NM_001040716.2(PC):c.751+20C>G
|
|
|
NM_001040716.2(PC):c.751+20C>T
|
|
|
NM_001040716.2(PC):c.751+4A>G
|
rs2135937467
|
|
NM_001040716.2(PC):c.751+8G>C
|
|
|
NM_001040716.2(PC):c.752-10C>A
|
|
|
NM_001040716.2(PC):c.752-12C>G
|
|
|
NM_001040716.2(PC):c.752-13C>T
|
|
|
NM_001040716.2(PC):c.752-4C>A
|
rs760649111
|
|
NM_001040716.2(PC):c.752-4C>T
|
rs760649111
|
|
NM_001040716.2(PC):c.752-6C>G
|
|
|
NM_001040716.2(PC):c.752-8C>T
|
rs2135936097
|
|
NM_001040716.2(PC):c.756C>T (p.Asp252=)
|
|
|
NM_001040716.2(PC):c.75C>T (p.Ala25=)
|
rs886048557
|
|
NM_001040716.2(PC):c.764_765del (p.Gly255fs)
|
|
|
NM_001040716.2(PC):c.765G>A (p.Gly255=)
|
|
|
NM_001040716.2(PC):c.765G>C (p.Gly255=)
|
rs1377525533
|
|
NM_001040716.2(PC):c.768C>T (p.Asn256=)
|
rs2135935982
|
|
NM_001040716.2(PC):c.771C>T (p.Ile257=)
|
rs2135935969
|
|
NM_001040716.2(PC):c.774G>C (p.Leu258=)
|
rs2135935956
|
|
NM_001040716.2(PC):c.77C>T (p.Ser26Phe)
|
rs2135943988
|
|
NM_001040716.2(PC):c.786G>A (p.Glu262=)
|
rs200030109
|
|
NM_001040716.2(PC):c.787C>A (p.Arg263=)
|
|
|
NM_001040716.2(PC):c.788G>A (p.Arg263Gln)
|
rs769177104
|
|
NM_001040716.2(PC):c.789A>T (p.Arg263=)
|
rs1946677605
|
|
NM_001040716.2(PC):c.78C>T (p.Ser26=)
|
|
|
NM_001040716.2(PC):c.795C>T (p.Cys265=)
|
rs1484456027
|
|
NM_001040716.2(PC):c.796T>G (p.Ser266Ala)
|
rs113994142
|
|
NM_001040716.2(PC):c.804G>A (p.Gln268=)
|
|
|
NM_001040716.2(PC):c.810G>A (p.Arg270=)
|
|
|
NM_001040716.2(PC):c.815A>G (p.Gln272Arg)
|
rs1591186383
|
|
NM_001040716.2(PC):c.820G>A (p.Val274Met)
|
|
|
NM_001040716.2(PC):c.831T>C (p.Ile277=)
|
|
|
NM_001040716.2(PC):c.834C>A (p.Ala278=)
|
rs2135935377
|
|
NM_001040716.2(PC):c.838G>A (p.Ala280Thr)
|
rs752585997
|
|
NM_001040716.2(PC):c.838_844del (p.Ala280fs)
|
|
|
NM_001040716.2(PC):c.840C>A (p.Ala280=)
|
|
|
NM_001040716.2(PC):c.840C>T (p.Ala280=)
|
rs376393322
|
|
NM_001040716.2(PC):c.846C>A (p.His282Gln)
|
|
|
NM_001040716.2(PC):c.861T>C (p.Leu287=)
|
rs2135935162
|
|
NM_001040716.2(PC):c.863G>A (p.Arg288Gln)
|
|
|
NM_001040716.2(PC):c.885T>C (p.Ser295=)
|
rs1320318568
|
|
NM_001040716.2(PC):c.885_888del (p.Val296fs)
|
|
|
NM_001040716.2(PC):c.888G>A (p.Val296=)
|
rs1342125656
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NM_001040716.2(PC):c.88C>T (p.Arg30Trp)
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NM_001040716.2(PC):c.88del (p.Arg30fs)
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NM_001040716.2(PC):c.894C>G (p.Leu298=)
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NM_001040716.2(PC):c.897T>C (p.Ala299=)
|
rs2135934934
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NM_001040716.2(PC):c.903+18C>T
|
|
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NM_001040716.2(PC):c.903+20T>C
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NM_001040716.2(PC):c.903+2T>A
|
rs1946669738
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NM_001040716.2(PC):c.904-12C>T
|
|
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NM_001040716.2(PC):c.904-4A>G
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NM_001040716.2(PC):c.904-4A>T
|
|
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NM_001040716.2(PC):c.904-5dup
|
rs2135929887
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NM_001040716.2(PC):c.904-9C>T
|
|
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NM_001040716.2(PC):c.908del (p.Gly303fs)
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|
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NM_001040716.2(PC):c.913G>T (p.Glu305Ter)
|
rs1487446205
|
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NM_001040716.2(PC):c.92G>A (p.Arg31His)
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|
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NM_001040716.2(PC):c.930G>C (p.Val310=)
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NM_001040716.2(PC):c.933G>A (p.Glu311=)
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|
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NM_001040716.2(PC):c.948G>A (p.Arg316=)
|
rs2135929486
|
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NM_001040716.2(PC):c.952G>A (p.Gly318Ser)
|
|
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NM_001040716.2(PC):c.954C>A (p.Gly318=)
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|
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NM_001040716.2(PC):c.954C>G (p.Gly318=)
|
rs370324997
|
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NM_001040716.2(PC):c.966C>T (p.Phe322=)
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|
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NM_001040716.2(PC):c.96G>A (p.Leu32=)
|
rs1057520946
|
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NM_001040716.2(PC):c.972G>A (p.Glu324=)
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|
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NM_001040716.2(PC):c.978C>T (p.Asn326=)
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NM_022172.2(PC):c.[2095G>A];[2095G>T]
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t(1;11)(p36.32;q13.2)
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