NM_000228.3(LAMB3):c.2702-12dup
|
rs397807887
|
0.95488
|
NM_000228.3(LAMB3):c.823-15C>T
|
rs4844863
|
0.84219
|
NM_000228.3(LAMB3):c.1716T>C (p.Cys572=)
|
rs2179402
|
0.74805
|
NM_000228.3(LAMB3):c.291A>C (p.Ser97=)
|
rs2076356
|
0.56410
|
NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=)
|
rs1049607
|
0.44327
|
NM_000228.3(LAMB3):c.384C>T (p.Pro128=)
|
rs1130667
|
0.30741
|
NM_000228.3(LAMB3):c.*102C>T
|
rs2566
|
0.27226
|
NM_000228.3(LAMB3):c.138C>T (p.Thr46=)
|
rs2228339
|
0.25110
|
NM_000228.3(LAMB3):c.1579G>A (p.Val527Met)
|
rs2076349
|
0.12644
|
NM_000228.3(LAMB3):c.1486-18G>A
|
rs2076350
|
0.12625
|
NM_000228.3(LAMB3):c.2673A>G (p.Leu891=)
|
rs3179860
|
0.11219
|
NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu)
|
rs12748250
|
0.11215
|
NM_000228.3(LAMB3):c.1149G>A (p.Pro383=)
|
rs2076351
|
0.05772
|
NM_000228.3(LAMB3):c.1312T>A (p.Ser438Thr)
|
rs2229468
|
0.04067
|
NM_000228.3(LAMB3):c.3448C>T (p.Leu1150=)
|
rs2228342
|
0.03922
|
NM_000228.3(LAMB3):c.2702-14G>A
|
rs199838217
|
0.02820
|
NM_000228.3(LAMB3):c.1764T>C (p.Tyr588=)
|
rs2229465
|
0.02743
|
NM_000228.3(LAMB3):c.943+18C>A
|
rs7550377
|
0.02735
|
NM_000228.3(LAMB3):c.2777C>A (p.Ala926Asp)
|
rs2076222
|
0.02691
|
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=)
|
rs2072937
|
0.02665
|
NM_000228.3(LAMB3):c.2069A>G (p.Asn690Ser)
|
rs2229466
|
0.02614
|
NM_000228.3(LAMB3):c.541A>G (p.Asn181Asp)
|
rs2235542
|
0.02610
|
NM_000228.3(LAMB3):c.564+10G>A
|
rs12410975
|
0.02306
|
NM_000228.3(LAMB3):c.2723C>T (p.Thr908Ile)
|
rs61753424
|
0.01891
|
NM_000228.3(LAMB3):c.2556+13G>A
|
rs113339950
|
0.01851
|
NM_000228.3(LAMB3):c.2542C>T (p.Arg848Trp)
|
rs59260335
|
0.01279
|
NM_000228.3(LAMB3):c.1015T>C (p.Tyr339His)
|
rs52814161
|
0.01066
|
NM_000228.3(LAMB3):c.2260C>T (p.Arg754Trp)
|
rs62637710
|
0.00948
|
NM_000228.3(LAMB3):c.689G>C (p.Arg230Thr)
|
rs61734502
|
0.00697
|
NM_000228.3(LAMB3):c.1439C>T (p.Pro480Leu)
|
rs61734494
|
0.00363
|
NM_000228.3(LAMB3):c.372+10C>T
|
rs192386323
|
0.00302
|
NM_000228.3(LAMB3):c.2286C>T (p.Thr762=)
|
rs11555726
|
0.00282
|
NM_000228.3(LAMB3):c.867T>C (p.Asn289=)
|
rs115579649
|
0.00254
|
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly)
|
rs55824996
|
0.00198
|
NM_000228.3(LAMB3):c.2147G>A (p.Arg716Gln)
|
rs114174766
|
0.00191
|
NM_000228.3(LAMB3):c.15C>T (p.Phe5=)
|
rs140470350
|
0.00190
|
NM_000228.3(LAMB3):c.2076C>T (p.Leu692=)
|
rs140248040
|
0.00139
|
NM_000228.3(LAMB3):c.3124C>T (p.Arg1042Trp)
|
rs114040223
|
0.00132
|
NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly)
|
rs140769823
|
0.00116
|
NM_000228.3(LAMB3):c.2359-15G>A
|
rs147708427
|
0.00111
|
NM_000228.3(LAMB3):c.1603G>A (p.Asp535Asn)
|
rs141723352
|
0.00108
|
NM_000228.3(LAMB3):c.1051G>A (p.Glu351Lys)
|
rs114875539
|
0.00107
|
NM_000228.3(LAMB3):c.1194G>A (p.Gln398=)
|
rs116602483
|
0.00103
|
NM_000228.3(LAMB3):c.2933G>C (p.Gly978Ala)
|
rs138748613
|
0.00102
|
NM_000228.3(LAMB3):c.1413G>A (p.Lys471=)
|
rs112316651
|
0.00096
|
NM_000228.3(LAMB3):c.548G>A (p.Arg183His)
|
rs150895872
|
0.00088
|
NM_000228.3(LAMB3):c.68G>A (p.Arg23His)
|
rs139480015
|
0.00086
|
NM_000228.3(LAMB3):c.1188C>T (p.Thr396=)
|
rs115883756
|
0.00082
|
NM_000228.3(LAMB3):c.1677G>T (p.Leu559Phe)
|
rs114274965
|
0.00068
|
NM_000228.3(LAMB3):c.2702-9dup
|
rs775872328
|
0.00056
|
NM_000228.3(LAMB3):c.1862C>T (p.Ala621Val)
|
rs142689095
|
0.00051
|
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
NM_000228.3(LAMB3):c.2298G>A (p.Lys766=)
|
rs113745536
|
0.00048
|
NM_000228.3(LAMB3):c.67C>T (p.Arg23Cys)
|
rs115191959
|
0.00047
|
NM_000228.3(LAMB3):c.777C>T (p.Cys259=)
|
rs146529524
|
0.00047
|
NM_000228.3(LAMB3):c.547C>T (p.Arg183Cys)
|
rs116124880
|
0.00038
|
NM_000228.3(LAMB3):c.2202C>T (p.Asp734=)
|
rs140720448
|
0.00034
|
NM_000228.3(LAMB3):c.1761C>A (p.Thr587=)
|
rs185451408
|
0.00031
|
NM_000228.3(LAMB3):c.1770G>A (p.Ala590=)
|
rs143594988
|
0.00028
|
NM_000228.3(LAMB3):c.822+9C>T
|
rs377703356
|
0.00028
|
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs)
|
rs1553277702
|
0.00028
|
NM_000228.3(LAMB3):c.3404G>A (p.Arg1135Gln)
|
rs115712132
|
0.00025
|
NM_000228.3(LAMB3):c.387C>T (p.Ala129=)
|
rs374988953
|
0.00024
|
NM_000228.3(LAMB3):c.2871G>A (p.Ala957=)
|
rs143164025
|
0.00022
|
NM_000228.3(LAMB3):c.1549C>T (p.Arg517Cys)
|
rs78788119
|
0.00020
|
NM_000228.3(LAMB3):c.582G>T (p.Met194Ile)
|
rs75876132
|
0.00019
|
NM_000228.3(LAMB3):c.911C>T (p.Pro304Leu)
|
rs114394307
|
0.00019
|
NM_000228.3(LAMB3):c.2403C>T (p.Cys801=)
|
rs115279528
|
0.00017
|
NM_000228.3(LAMB3):c.1090C>T (p.Arg364Trp)
|
rs370699820
|
0.00016
|
NM_000228.3(LAMB3):c.3479A>G (p.His1160Arg)
|
rs147931502
|
0.00016
|
NM_000228.3(LAMB3):c.734G>A (p.Arg245His)
|
rs114886812
|
0.00016
|
NM_000228.3(LAMB3):c.2685C>A (p.Val895=)
|
rs531027639
|
0.00015
|
NM_000228.3(LAMB3):c.1348C>T (p.Arg450Cys)
|
rs200895463
|
0.00013
|
NM_000228.3(LAMB3):c.1546A>G (p.Ile516Val)
|
rs148988085
|
0.00012
|
NM_000228.3(LAMB3):c.1140G>A (p.Glu380=)
|
rs372967322
|
0.00011
|
NM_000228.3(LAMB3):c.2475C>T (p.Ala825=)
|
rs550033087
|
0.00011
|
NM_000228.3(LAMB3):c.3192G>A (p.Ala1064=)
|
rs115239928
|
0.00011
|
NM_000228.3(LAMB3):c.3368T>A (p.Met1123Lys)
|
rs78483218
|
0.00011
|
NM_000228.3(LAMB3):c.3435G>A (p.Ala1145=)
|
rs200469035
|
0.00011
|
NM_000228.3(LAMB3):c.1758G>A (p.Gln586=)
|
rs780457747
|
0.00010
|
NM_000228.3(LAMB3):c.1289-15G>T
|
rs115240279
|
0.00009
|
NM_000228.3(LAMB3):c.1329G>A (p.Pro443=)
|
rs371309063
|
0.00009
|
NM_000228.3(LAMB3):c.2706C>T (p.Pro902=)
|
rs776286182
|
0.00009
|
NM_000228.3(LAMB3):c.459C>T (p.Cys153=)
|
rs565416040
|
0.00009
|
NM_000228.3(LAMB3):c.1008G>A (p.Gln336=)
|
rs114404740
|
0.00008
|
NM_000228.3(LAMB3):c.1328C>T (p.Pro443Leu)
|
rs202096620
|
0.00008
|
NM_000228.3(LAMB3):c.3426G>A (p.Leu1142=)
|
rs753454602
|
0.00007
|
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)
|
rs80356680
|
0.00006
|
NM_000228.3(LAMB3):c.1486-5C>T
|
rs113121669
|
0.00006
|
NM_000228.3(LAMB3):c.1578C>T (p.Asp526=)
|
rs567151867
|
0.00006
|
NM_000228.3(LAMB3):c.1638C>T (p.Cys546=)
|
rs555155357
|
0.00006
|
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter)
|
rs146794392
|
0.00006
|
NM_000228.3(LAMB3):c.2359-8G>A
|
rs368295070
|
0.00006
|
NM_000228.3(LAMB3):c.267C>T (p.Ser89=)
|
rs143833060
|
0.00006
|
NM_000228.3(LAMB3):c.3434C>T (p.Ala1145Val)
|
rs750121518
|
0.00006
|
NM_000228.3(LAMB3):c.558G>A (p.Gly186=)
|
rs1267114158
|
0.00006
|
NM_000228.3(LAMB3):c.669G>A (p.Arg223=)
|
rs200235429
|
0.00006
|
NM_000228.3(LAMB3):c.708C>T (p.Ser236=)
|
rs768102929
|
0.00006
|
NM_000228.3(LAMB3):c.813C>T (p.Thr271=)
|
rs146690433
|
0.00006
|
NM_000228.3(LAMB3):c.978C>T (p.His326=)
|
rs145473444
|
0.00006
|
NM_000228.3(LAMB3):c.1335C>T (p.Asp445=)
|
rs374430633
|
0.00005
|
NM_000228.3(LAMB3):c.1667G>A (p.Arg556His)
|
rs371013768
|
0.00005
|
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)
|
rs201551805
|
0.00005
|
NM_000228.3(LAMB3):c.1923C>T (p.Pro641=)
|
rs751096261
|
0.00005
|
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter)
|
rs80356681
|
0.00005
|
NM_000228.3(LAMB3):c.1056C>G (p.Gly352=)
|
rs373815949
|
0.00004
|
NM_000228.3(LAMB3):c.1212T>C (p.His404=)
|
rs780367752
|
0.00004
|
NM_000228.3(LAMB3):c.1245G>A (p.Pro415=)
|
rs572149945
|
0.00004
|
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs)
|
rs769967565
|
0.00004
|
NM_000228.3(LAMB3):c.1449C>T (p.Cys483=)
|
rs781012508
|
0.00004
|
NM_000228.3(LAMB3):c.1485+8G>A
|
rs761156179
|
0.00004
|
NM_000228.3(LAMB3):c.1536C>T (p.Ser512=)
|
rs375260663
|
0.00004
|
NM_000228.3(LAMB3):c.174G>A (p.Gln58=)
|
rs779157351
|
0.00004
|
NM_000228.3(LAMB3):c.1823dup (p.Ser608fs)
|
rs1057516219
|
0.00004
|
NM_000228.3(LAMB3):c.1968C>T (p.Leu656=)
|
rs140478941
|
0.00004
|
NM_000228.3(LAMB3):c.2166C>T (p.Tyr722=)
|
rs552611500
|
0.00004
|
NM_000228.3(LAMB3):c.216G>A (p.Arg72=)
|
rs765883028
|
0.00004
|
NM_000228.3(LAMB3):c.2697A>G (p.Leu899=)
|
rs115431256
|
0.00004
|
NM_000228.3(LAMB3):c.2831A>G (p.Asn944Ser)
|
rs567776263
|
0.00004
|
NM_000228.3(LAMB3):c.3444A>G (p.Thr1148=)
|
rs374453446
|
0.00004
|
NM_000228.3(LAMB3):c.914C>T (p.Ala305Val)
|
rs756331697
|
0.00004
|
NM_000228.3(LAMB3):c.1050C>T (p.Thr350=)
|
rs76690225
|
0.00003
|
NM_000228.3(LAMB3):c.1236A>G (p.Leu412=)
|
rs202113091
|
0.00003
|
NM_000228.3(LAMB3):c.1266C>T (p.Tyr422=)
|
rs766227083
|
0.00003
|
NM_000228.3(LAMB3):c.1616G>A (p.Arg539Gln)
|
rs530692211
|
0.00003
|
NM_000228.3(LAMB3):c.1818C>T (p.Thr606=)
|
rs781466716
|
0.00003
|
NM_000228.3(LAMB3):c.2138-7G>A
|
rs779508669
|
0.00003
|
NM_000228.3(LAMB3):c.2199C>T (p.Ser733=)
|
rs748747266
|
0.00003
|
NM_000228.3(LAMB3):c.2229G>A (p.Arg743=)
|
rs1192819043
|
0.00003
|
NM_000228.3(LAMB3):c.2625C>T (p.Ser875=)
|
rs768028663
|
0.00003
|
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)
|
rs747916314
|
0.00003
|
NM_000228.3(LAMB3):c.2973A>G (p.Thr991=)
|
rs1004970736
|
0.00003
|
NM_000228.3(LAMB3):c.3015C>T (p.Ser1005=)
|
rs745334916
|
0.00003
|
NM_000228.3(LAMB3):c.3252G>A (p.Lys1084=)
|
rs372120856
|
0.00003
|
NM_000228.3(LAMB3):c.3309C>A (p.Ala1103=)
|
rs776379217
|
0.00003
|
NM_000228.3(LAMB3):c.565-2A>G
|
rs370148688
|
0.00003
|
NM_000228.3(LAMB3):c.707G>C (p.Ser236Thr)
|
rs750934724
|
0.00003
|
NM_000228.3(LAMB3):c.915G>A (p.Ala305=)
|
rs751348872
|
0.00003
|
NM_000228.3(LAMB3):c.1063T>C (p.Cys355Arg)
|
rs532875477
|
0.00002
|
NM_000228.3(LAMB3):c.1132+5G>A
|
rs770302956
|
0.00002
|
NM_000228.3(LAMB3):c.1132+8G>A
|
rs777237961
|
0.00002
|
NM_000228.3(LAMB3):c.1198G>C (p.Val400Leu)
|
rs550298199
|
0.00002
|
NM_000228.3(LAMB3):c.1486-4G>A
|
rs749391486
|
0.00002
|
NM_000228.3(LAMB3):c.1632G>A (p.Pro544=)
|
rs753960912
|
0.00002
|
NM_000228.3(LAMB3):c.1680C>T (p.Thr560=)
|
rs376183751
|
0.00002
|
NM_000228.3(LAMB3):c.2138-8C>T
|
rs946848233
|
0.00002
|
NM_000228.3(LAMB3):c.2160A>G (p.Thr720=)
|
rs1247539937
|
0.00002
|
NM_000228.3(LAMB3):c.2556+7G>A
|
rs201280220
|
0.00002
|
NM_000228.3(LAMB3):c.2646G>A (p.Glu882=)
|
rs372188386
|
0.00002
|
NM_000228.3(LAMB3):c.2709C>T (p.Asp903=)
|
rs1216294419
|
0.00002
|
NM_000228.3(LAMB3):c.2745C>T (p.Ala915=)
|
rs200462390
|
0.00002
|
NM_000228.3(LAMB3):c.2826C>T (p.Leu942=)
|
rs1182425698
|
0.00002
|
NM_000228.3(LAMB3):c.2832C>T (p.Asn944=)
|
rs112109122
|
0.00002
|
NM_000228.3(LAMB3):c.2922T>C (p.His974=)
|
rs1284559974
|
0.00002
|
NM_000228.3(LAMB3):c.30C>T (p.Ala10=)
|
rs114304155
|
0.00002
|
NM_000228.3(LAMB3):c.3345G>A (p.Leu1115=)
|
rs761951206
|
0.00002
|
NM_000228.3(LAMB3):c.3411C>T (p.Ser1137=)
|
rs771886651
|
0.00002
|
NM_000228.3(LAMB3):c.3414G>A (p.Gln1138=)
|
rs778923534
|
0.00002
|
NM_000228.3(LAMB3):c.342C>T (p.Phe114=)
|
rs758983287
|
0.00002
|
NM_000228.3(LAMB3):c.372+7C>T
|
rs767311475
|
0.00002
|
NM_000228.3(LAMB3):c.453C>T (p.Ala151=)
|
rs369986809
|
0.00002
|
NM_000228.3(LAMB3):c.463dup (p.Ser155fs)
|
rs776537364
|
0.00002
|
NM_000228.3(LAMB3):c.642C>T (p.Ile214=)
|
rs774677423
|
0.00002
|
NM_000228.3(LAMB3):c.672G>T (p.Leu224=)
|
rs747721994
|
0.00002
|
NM_000228.3(LAMB3):c.759C>T (p.His253=)
|
rs778399071
|
0.00002
|
NM_000228.3(LAMB3):c.948C>T (p.Cys316=)
|
rs779681550
|
0.00002
|
NM_000228.3(LAMB3):c.977del (p.His326fs)
|
rs753711190
|
0.00002
|
NM_000228.3(LAMB3):c.978del (p.Phe327fs)
|
rs763559509
|
0.00002
|
NM_000228.3(LAMB3):c.1068G>A (p.Glu356=)
|
rs919091093
|
0.00001
|
NM_000228.3(LAMB3):c.1080G>A (p.Leu360=)
|
rs116607807
|
0.00001
|
NM_000228.3(LAMB3):c.1119G>A (p.Gln373=)
|
rs769838988
|
0.00001
|
NM_000228.3(LAMB3):c.1179C>T (p.Asp393=)
|
rs1220144617
|
0.00001
|
NM_000228.3(LAMB3):c.1185G>T (p.Val395=)
|
rs1321844720
|
0.00001
|
NM_000228.3(LAMB3):c.1288+10G>A
|
rs1350715913
|
0.00001
|
NM_000228.3(LAMB3):c.1341G>A (p.Glu447=)
|
rs1476257815
|
0.00001
|
NM_000228.3(LAMB3):c.1347G>A (p.Gly449=)
|
rs762400142
|
0.00001
|
NM_000228.3(LAMB3):c.135T>C (p.Ser45=)
|
rs1409801812
|
0.00001
|
NM_000228.3(LAMB3):c.1368C>T (p.Asn456=)
|
rs1666509801
|
0.00001
|
NM_000228.3(LAMB3):c.1440G>A (p.Pro480=)
|
rs779846779
|
0.00001
|
NM_000228.3(LAMB3):c.1455G>A (p.Pro485=)
|
rs1033335294
|
0.00001
|
NM_000228.3(LAMB3):c.1485+10G>A
|
rs369368663
|
0.00001
|
NM_000228.3(LAMB3):c.1486-10C>T
|
rs1666484318
|
0.00001
|
NM_000228.3(LAMB3):c.1500C>A (p.Cys500Ter)
|
rs893599116
|
0.00001
|
NM_000228.3(LAMB3):c.1515C>A (p.Gly505=)
|
rs1431872330
|
0.00001
|
NM_000228.3(LAMB3):c.1560A>G (p.Pro520=)
|
rs931152912
|
0.00001
|
NM_000228.3(LAMB3):c.1566G>C (p.Arg522=)
|
rs746121545
|
0.00001
|
NM_000228.3(LAMB3):c.1593C>T (p.Cys531=)
|
rs1373499246
|
0.00001
|
NM_000228.3(LAMB3):c.1594C>T (p.Arg532Ter)
|
rs757145297
|
0.00001
|
NM_000228.3(LAMB3):c.1597+10C>G
|
rs201322027
|
0.00001
|
NM_000228.3(LAMB3):c.1597+1G>T
|
rs1553277072
|
0.00001
|
NM_000228.3(LAMB3):c.1605C>T (p.Asp535=)
|
rs769135594
|
0.00001
|
NM_000228.3(LAMB3):c.1644G>A (p.Lys548=)
|
rs1666433893
|
0.00001
|
NM_000228.3(LAMB3):c.168C>T (p.Cys56=)
|
rs772245138
|
0.00001
|
NM_000228.3(LAMB3):c.1701C>T (p.Cys567=)
|
rs756375245
|
0.00001
|
NM_000228.3(LAMB3):c.1821C>T (p.Ala607=)
|
rs751762651
|
0.00001
|
NM_000228.3(LAMB3):c.1884G>A (p.Lys628=)
|
rs770992053
|
0.00001
|
NM_000228.3(LAMB3):c.1924G>A (p.Ala642Thr)
|
rs767931599
|
0.00001
|
NM_000228.3(LAMB3):c.1926A>G (p.Ala642=)
|
rs1221167329
|
0.00001
|
NM_000228.3(LAMB3):c.1929C>A (p.Val643=)
|
rs1335523633
|
0.00001
|
NM_000228.3(LAMB3):c.1962C>T (p.Ala654=)
|
rs1460665836
|
0.00001
|
NM_000228.3(LAMB3):c.2037G>A (p.Pro679=)
|
rs774502087
|
0.00001
|
NM_000228.3(LAMB3):c.2094G>A (p.Arg698=)
|
rs115704192
|
0.00001
|
NM_000228.3(LAMB3):c.2133T>G (p.Pro711=)
|
rs192846348
|
0.00001
|
NM_000228.3(LAMB3):c.213C>T (p.Ser71=)
|
rs566813980
|
0.00001
|
NM_000228.3(LAMB3):c.2157C>T (p.Ser719=)
|
rs757647232
|
0.00001
|
NM_000228.3(LAMB3):c.2163C>T (p.Ala721=)
|
rs758343266
|
0.00001
|
NM_000228.3(LAMB3):c.2188C>T (p.Gln730Ter)
|
rs1350303547
|
0.00001
|
NM_000228.3(LAMB3):c.2208G>A (p.Ser736=)
|
rs757559545
|
0.00001
|
NM_000228.3(LAMB3):c.2250G>A (p.Glu750=)
|
rs151058440
|
0.00001
|
NM_000228.3(LAMB3):c.2268G>A (p.Ala756=)
|
rs779309922
|
0.00001
|
NM_000228.3(LAMB3):c.2328G>A (p.Ser776=)
|
rs139058862
|
0.00001
|
NM_000228.3(LAMB3):c.2373C>G (p.Ser791=)
|
rs1302851321
|
0.00001
|
NM_000228.3(LAMB3):c.2388C>T (p.Cys796=)
|
rs754799781
|
0.00001
|
NM_000228.3(LAMB3):c.2412G>A (p.Glu804=)
|
rs535416687
|
0.00001
|
NM_000228.3(LAMB3):c.2413C>T (p.Leu805=)
|
rs1306569145
|
0.00001
|
NM_000228.3(LAMB3):c.2556+10G>A
|
rs560241868
|
0.00001
|
NM_000228.3(LAMB3):c.28+9C>T
|
rs768454220
|
0.00001
|
NM_000228.3(LAMB3):c.282G>A (p.Trp94Ter)
|
rs748099677
|
0.00001
|
NM_000228.3(LAMB3):c.2937G>A (p.Gln979=)
|
rs750019735
|
0.00001
|
NM_000228.3(LAMB3):c.2970G>A (p.Gly990=)
|
rs765832266
|
0.00001
|
NM_000228.3(LAMB3):c.299-8C>T
|
rs773055153
|
0.00001
|
NM_000228.3(LAMB3):c.3051+9T>C
|
rs978094347
|
0.00001
|
NM_000228.3(LAMB3):c.3168G>A (p.Glu1056=)
|
rs760642281
|
0.00001
|
NM_000228.3(LAMB3):c.3228+7A>G
|
rs776994365
|
0.00001
|
NM_000228.3(LAMB3):c.3279T>C (p.Gly1093=)
|
rs957896004
|
0.00001
|
NM_000228.3(LAMB3):c.3339G>A (p.Glu1113=)
|
rs772773344
|
0.00001
|
NM_000228.3(LAMB3):c.402G>A (p.Glu134=)
|
rs183509078
|
0.00001
|
NM_000228.3(LAMB3):c.405C>T (p.Arg135=)
|
rs1007125449
|
0.00001
|
NM_000228.3(LAMB3):c.414C>T (p.Asp138=)
|
rs1382722706
|
0.00001
|
NM_000228.3(LAMB3):c.417C>T (p.Phe139=)
|
rs201554705
|
0.00001
|
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter)
|
rs759518184
|
0.00001
|
NM_000228.3(LAMB3):c.444C>T (p.Tyr148=)
|
rs200607251
|
0.00001
|
NM_000228.3(LAMB3):c.445C>T (p.Leu149=)
|
rs372787389
|
0.00001
|
NM_000228.3(LAMB3):c.565-1G>A
|
rs1057516693
|
0.00001
|
NM_000228.3(LAMB3):c.576C>T (p.Asn192=)
|
rs765643345
|
0.00001
|
NM_000228.3(LAMB3):c.594T>C (p.Ser198=)
|
rs1446232094
|
0.00001
|
NM_000228.3(LAMB3):c.612A>G (p.Gln204=)
|
rs772335033
|
0.00001
|
NM_000228.3(LAMB3):c.628+1G>A
|
rs1057516539
|
0.00001
|
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)
|
rs121912482
|
0.00001
|
NM_000228.3(LAMB3):c.705C>T (p.Pro235=)
|
rs554528737
|
0.00001
|
NM_000228.3(LAMB3):c.876C>T (p.Arg292=)
|
rs886045868
|
0.00001
|
NM_000228.3(LAMB3):c.894C>T (p.Asn298=)
|
rs1266646425
|
0.00001
|
NM_000228.3(LAMB3):c.912G>A (p.Pro304=)
|
rs371979667
|
0.00001
|
NM_000228.3(LAMB3):c.933T>C (p.His311=)
|
rs1433663476
|
0.00001
|
NM_000228.3(LAMB3):c.96C>T (p.Asp32=)
|
rs752440951
|
0.00001
|
NM_000228.3(LAMB3):c.987C>T (p.Pro329=)
|
rs935427824
|
0.00001
|
NM_000228.3(LAMB3):c.999C>T (p.Ala333=)
|
rs1666613084
|
0.00001
|
NC_000001.10:g.(?_209788514)_(209825713_?)del
|
|
|
NC_000001.10:g.(?_209798983)_(209812003_?)del
|
|
|
NC_000001.10:g.(?_209803072)_(209812003_?)dup
|
|
|
NM_000228.3(LAMB3):c.1002C>T (p.Ala334=)
|
rs2102428993
|
|
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)
|
rs774174881
|
|
NM_000228.3(LAMB3):c.1029_1030del (p.Cys343_Asp344delinsTer)
|
|
|
NM_000228.3(LAMB3):c.1029_1030dup (p.Asp344fs)
|
rs1057517290
|
|
NM_000228.3(LAMB3):c.1041G>C (p.Arg347=)
|
|
|
NM_000228.3(LAMB3):c.1044C>T (p.Asp348=)
|
|
|
NM_000228.3(LAMB3):c.1050C>A (p.Thr350=)
|
|
|
NM_000228.3(LAMB3):c.1050C>G (p.Thr350=)
|
rs76690225
|
|
NM_000228.3(LAMB3):c.1075C>T (p.Gln359Ter)
|
rs1666607402
|
|
NM_000228.3(LAMB3):c.108G>A (p.Gly36=)
|
rs2102466037
|
|
NM_000228.3(LAMB3):c.1095C>T (p.Asn365=)
|
|
|
NM_000228.3(LAMB3):c.10T>C (p.Phe4Leu)
|
|
|
NM_000228.3(LAMB3):c.1101C>A (p.Arg367=)
|
|
|
NM_000228.3(LAMB3):c.1104G>C (p.Pro368=)
|
|
|
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)
|
rs1057517096
|
|
NM_000228.3(LAMB3):c.111G>A (p.Arg37=)
|
|
|
NM_000228.3(LAMB3):c.1122G>A (p.Glu374=)
|
|
|
NM_000228.3(LAMB3):c.1125C>G (p.Thr375=)
|
|
|
NM_000228.3(LAMB3):c.1132+12C>T
|
|
|
NM_000228.3(LAMB3):c.1132+15C>T
|
|
|
NM_000228.3(LAMB3):c.1132+16G>A
|
|
|
NM_000228.3(LAMB3):c.1132+19G>C
|
|
|
NM_000228.3(LAMB3):c.1132+1G>A
|
|
|
NM_000228.3(LAMB3):c.1132+7A>G
|
rs746547281
|
|
NM_000228.3(LAMB3):c.1133-11T>C
|
|
|
NM_000228.3(LAMB3):c.1133-11T>G
|
|
|
NM_000228.3(LAMB3):c.1133-22G>A
|
rs767847211
|
|
NM_000228.3(LAMB3):c.1133-2A>G
|
|
|
NM_000228.3(LAMB3):c.1133-9G>T
|
|
|
NM_000228.3(LAMB3):c.1149G>T (p.Pro383=)
|
rs2076351
|
|
NM_000228.3(LAMB3):c.1156del (p.Ala386fs)
|
|
|
NM_000228.3(LAMB3):c.116G>A (p.Arg39Gln)
|
|
|
NM_000228.3(LAMB3):c.1172_1179delinsTGTGTGTGCAAGGAG (p.Pro391fs)
|
|
|
NM_000228.3(LAMB3):c.1191del (p.Gln398fs)
|
rs1666542456
|
|
NM_000228.3(LAMB3):c.1208A>G (p.Glu403Gly)
|
rs2102425858
|
|
NM_000228.3(LAMB3):c.1209G>A (p.Glu403=)
|
rs1437258433
|
|
NM_000228.3(LAMB3):c.1215G>A (p.Val405=)
|
|
|
NM_000228.3(LAMB3):c.1224G>A (p.Glu408=)
|
rs1410885801
|
|
NM_000228.3(LAMB3):c.1233C>T (p.Asp411=)
|
|
|
NM_000228.3(LAMB3):c.1236A>T (p.Leu412=)
|
|
|
NM_000228.3(LAMB3):c.1245G>T (p.Pro415=)
|
|
|
NM_000228.3(LAMB3):c.1248C>T (p.Gly416=)
|
|
|
NM_000228.3(LAMB3):c.1251C>T (p.Phe417=)
|
rs764431791
|
|
NM_000228.3(LAMB3):c.1254T>C (p.Thr418=)
|
|
|
NM_000228.3(LAMB3):c.125G>A (p.Arg42Gln)
|
|
|
NM_000228.3(LAMB3):c.1260C>T (p.Leu420=)
|
|
|
NM_000228.3(LAMB3):c.1263C>A (p.Thr421=)
|
rs984538160
|
|
NM_000228.3(LAMB3):c.1266C>A (p.Tyr422Ter)
|
rs766227083
|
|
NM_000228.3(LAMB3):c.1275G>A (p.Pro425=)
|
rs148726330
|
|
NM_000228.3(LAMB3):c.1275G>T (p.Pro425=)
|
rs148726330
|
|
NM_000228.3(LAMB3):c.1288+12G>A
|
|
|
NM_000228.3(LAMB3):c.1288+12G>T
|
|
|
NM_000228.3(LAMB3):c.1288+14T>A
|
|
|
NM_000228.3(LAMB3):c.1288+19C>G
|
|
|
NM_000228.3(LAMB3):c.1288+1G>A
|
rs1186161867
|
|
NM_000228.3(LAMB3):c.1288+1G>T
|
rs1186161867
|
|
NM_000228.3(LAMB3):c.1288+2T>A
|
|
|
NM_000228.3(LAMB3):c.1288+9G>A
|
rs1234540418
|
|
NM_000228.3(LAMB3):c.1289-10C>T
|
|
|
NM_000228.3(LAMB3):c.1289-14C>G
|
|
|
NM_000228.3(LAMB3):c.1289-19A>C
|
|
|
NM_000228.3(LAMB3):c.1289-2A>G
|
|
|
NM_000228.3(LAMB3):c.1289-4G>T
|
rs2102424554
|
|
NM_000228.3(LAMB3):c.1289-7C>T
|
|
|
NM_000228.3(LAMB3):c.1289-8T>C
|
rs2102424569
|
|
NM_000228.3(LAMB3):c.1289-9C>T
|
|
|
NM_000228.3(LAMB3):c.1289_1301del (p.Arg430fs)
|
|
|
NM_000228.3(LAMB3):c.1293_1294del (p.Cys431_Asp432delinsTer)
|
|
|
NM_000228.3(LAMB3):c.12C>T (p.Phe4=)
|
rs2102467723
|
|
NM_000228.3(LAMB3):c.1302C>T (p.Asn434=)
|
rs781740513
|
|
NM_000228.3(LAMB3):c.1311G>A (p.Gly437=)
|
rs1286245527
|
|
NM_000228.3(LAMB3):c.1311G>T (p.Gly437=)
|
rs1286245527
|
|
NM_000228.3(LAMB3):c.1319_1322del (p.Arg440fs)
|
|
|
NM_000228.3(LAMB3):c.132A>C (p.Ser44=)
|
rs977282977
|
|
NM_000228.3(LAMB3):c.132A>G (p.Ser44=)
|
rs977282977
|
|
NM_000228.3(LAMB3):c.1336G>T (p.Glu446Ter)
|
rs749069550
|
|
NM_000228.3(LAMB3):c.1350C>G (p.Arg450=)
|
|
|
NM_000228.3(LAMB3):c.1350C>T (p.Arg450=)
|
rs1222968859
|
|
NM_000228.3(LAMB3):c.1357del (p.Cys453fs)
|
|
|
NM_000228.3(LAMB3):c.1365C>T (p.Pro455=)
|
rs2102424293
|
|
NM_000228.3(LAMB3):c.1371G>C (p.Val457=)
|
rs1433069967
|
|
NM_000228.3(LAMB3):c.1377T>C (p.Gly459=)
|
|
|
NM_000228.3(LAMB3):c.1389C>T (p.Asp463=)
|
|
|
NM_000228.3(LAMB3):c.1398T>C (p.Ala466=)
|
rs1571813434
|
|
NM_000228.3(LAMB3):c.1407C>T (p.His469=)
|
rs1666508196
|
|
NM_000228.3(LAMB3):c.1410G>A (p.Trp470Ter)
|
|
|
NM_000228.3(LAMB3):c.1422T>C (p.Ser474=)
|
|
|
NM_000228.3(LAMB3):c.1426C>T (p.Gln476Ter)
|
rs1666507638
|
|
NM_000228.3(LAMB3):c.1427dup (p.Cys478fs)
|
rs2102424137
|
|
NM_000228.3(LAMB3):c.1431C>T (p.Gly477=)
|
|
|
NM_000228.3(LAMB3):c.1449C>A (p.Cys483Ter)
|
|
|
NM_000228.3(LAMB3):c.1455G>C (p.Pro485=)
|
rs1033335294
|
|
NM_000228.3(LAMB3):c.1455G>T (p.Pro485=)
|
|
|
NM_000228.3(LAMB3):c.145C>T (p.Leu49=)
|
|
|
NM_000228.3(LAMB3):c.1461C>T (p.Asn487=)
|
rs2102424038
|
|
NM_000228.3(LAMB3):c.1464C>T (p.Ser488=)
|
rs1558155121
|
|
NM_000228.3(LAMB3):c.1485+10G>T
|
|
|
NM_000228.3(LAMB3):c.1485+12G>A
|
|
|
NM_000228.3(LAMB3):c.1485+16G>T
|
|
|
NM_000228.3(LAMB3):c.1485+1G>C
|
rs2102423955
|
|
NM_000228.3(LAMB3):c.1485+20C>T
|
|
|
NM_000228.3(LAMB3):c.1485+7A>C
|
|
|
NM_000228.3(LAMB3):c.1486-12C>G
|
|
|
NM_000228.3(LAMB3):c.1486-19C>T
|
|
|
NM_000228.3(LAMB3):c.1486-1G>A
|
rs1418276828
|
|
NM_000228.3(LAMB3):c.1486-4G>T
|
|
|
NM_000228.3(LAMB3):c.1486-6A>G
|
rs2102423091
|
|
NM_000228.3(LAMB3):c.1486-6A>T
|
|
|
NM_000228.3(LAMB3):c.1486-7C>T
|
rs2102423096
|
|
NM_000228.3(LAMB3):c.1486-8C>T
|
|
|
NM_000228.3(LAMB3):c.1486-9C>A
|
|
|
NM_000228.3(LAMB3):c.1509G>A (p.Arg503=)
|
rs2102422983
|
|
NM_000228.3(LAMB3):c.150C>A (p.Thr50=)
|
|
|
NM_000228.3(LAMB3):c.1518T>C (p.Phe506=)
|
|
|
NM_000228.3(LAMB3):c.1521T>C (p.Gly507=)
|
rs1429618453
|
|
NM_000228.3(LAMB3):c.1527G>C (p.Leu509=)
|
rs2102422904
|
|
NM_000228.3(LAMB3):c.1548C>T (p.Ile516=)
|
|
|
NM_000228.3(LAMB3):c.1552C>T (p.Gln518Ter)
|
|
|
NM_000228.3(LAMB3):c.155del (p.Pro52fs)
|
|
|
NM_000228.3(LAMB3):c.1560A>T (p.Pro520=)
|
|
|
NM_000228.3(LAMB3):c.1572T>C (p.Tyr524=)
|
|
|
NM_000228.3(LAMB3):c.1587A>G (p.Thr529=)
|
rs2102422654
|
|
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs)
|
rs769151482
|
|
NM_000228.3(LAMB3):c.1593C>A (p.Cys531Ter)
|
|
|
NM_000228.3(LAMB3):c.1597+11A>T
|
|
|
NM_000228.3(LAMB3):c.1597+17T>A
|
|
|
NM_000228.3(LAMB3):c.1597+1G>A
|
rs1553277072
|
|
NM_000228.3(LAMB3):c.1598-12T>C
|
|
|
NM_000228.3(LAMB3):c.1598-14T>G
|
|
|
NM_000228.3(LAMB3):c.1598-4C>T
|
rs2102421224
|
|
NM_000228.3(LAMB3):c.1598-5C>T
|
rs768703055
|
|
NM_000228.3(LAMB3):c.1598-6C>T
|
|
|
NM_000228.3(LAMB3):c.1599C>T (p.Ala533=)
|
rs2102421209
|
|
NM_000228.3(LAMB3):c.1619del (p.Gly540fs)
|
|
|
NM_000228.3(LAMB3):c.1628dup (p.Cys546fs)
|
|
|
NM_000228.3(LAMB3):c.1629C>G (p.Gly543=)
|
rs1299516456
|
|
NM_000228.3(LAMB3):c.1629C>T (p.Gly543=)
|
rs1299516456
|
|
NM_000228.3(LAMB3):c.1632G>T (p.Pro544=)
|
rs753960912
|
|
NM_000228.3(LAMB3):c.1639G>A (p.Asp547Asn)
|
|
|
NM_000228.3(LAMB3):c.1657del (p.Cys553fs)
|
rs2102420949
|
|
NM_000228.3(LAMB3):c.165C>T (p.Tyr55=)
|
|
|
NM_000228.3(LAMB3):c.1662C>A (p.Leu554=)
|
|
|
NM_000228.3(LAMB3):c.1668C>T (p.Arg556=)
|
|
|
NM_000228.3(LAMB3):c.1674C>G (p.Gly558=)
|
|
|
NM_000228.3(LAMB3):c.1676del (p.Gly558_Leu559insTer)
|
rs1666431089
|
|
NM_000228.3(LAMB3):c.1683G>T (p.Gly561=)
|
|
|
NM_000228.3(LAMB3):c.1698G>A (p.Gln566=)
|
rs2102420808
|
|
NM_000228.3(LAMB3):c.1702C>T (p.Gln568Ter)
|
rs1571810782
|
|
NM_000228.3(LAMB3):c.1704G>A (p.Gln568=)
|
|
|
NM_000228.3(LAMB3):c.1706G>A (p.Arg569Gln)
|
|
|
NM_000228.3(LAMB3):c.171C>A (p.Thr57=)
|
rs1571841977
|
|
NM_000228.3(LAMB3):c.1731G>A (p.Val577=)
|
|
|
NM_000228.3(LAMB3):c.1734C>T (p.Cys578=)
|
rs138710333
|
|
NM_000228.3(LAMB3):c.1740C>A (p.Ala580=)
|
rs1318119346
|
|
NM_000228.3(LAMB3):c.1779G>A (p.Arg593=)
|
rs1312152970
|
|
NM_000228.3(LAMB3):c.1782G>A (p.Glu594=)
|
rs766320452
|
|
NM_000228.3(LAMB3):c.1785G>A (p.Gln595=)
|
|
|
NM_000228.3(LAMB3):c.1786G>T (p.Ala596Ser)
|
rs374016408
|
|
NM_000228.3(LAMB3):c.1791G>A (p.Leu597=)
|
|
|
NM_000228.3(LAMB3):c.1792_1793insT (p.Arg598fs)
|
|
|
NM_000228.3(LAMB3):c.1794C>T (p.Arg598=)
|
rs377645754
|
|
NM_000228.3(LAMB3):c.1803A>G (p.Arg601=)
|
rs2102420427
|
|
NM_000228.3(LAMB3):c.1806C>A (p.Leu602=)
|
|
|
NM_000228.3(LAMB3):c.1806C>T (p.Leu602=)
|
|
|
NM_000228.3(LAMB3):c.1814_1827del (p.Ala605fs)
|
rs1666418404
|
|
NM_000228.3(LAMB3):c.1827G>A (p.Leu609=)
|
|
|
NM_000228.3(LAMB3):c.1829G>A (p.Trp610Ter)
|
|
|
NM_000228.3(LAMB3):c.183+14C>T
|
|
|
NM_000228.3(LAMB3):c.183+1G>A
|
|
|
NM_000228.3(LAMB3):c.183+7C>A
|
|
|
NM_000228.3(LAMB3):c.1830G>A (p.Trp610Ter)
|
rs121912484
|
|
NM_000228.3(LAMB3):c.1833A>G (p.Ser611=)
|
|
|
NM_000228.3(LAMB3):c.184-14T>A
|
|
|
NM_000228.3(LAMB3):c.184-17A>G
|
|
|
NM_000228.3(LAMB3):c.184-1G>A
|
rs2102446425
|
|
NM_000228.3(LAMB3):c.184-8T>C
|
rs2102446436
|
|
NM_000228.3(LAMB3):c.1842G>A (p.Gly614=)
|
|
|
NM_000228.3(LAMB3):c.1845G>A (p.Leu615=)
|
rs1381170929
|
|
NM_000228.3(LAMB3):c.1846G>T (p.Glu616Ter)
|
|
|
NM_000228.3(LAMB3):c.1848G>A (p.Glu616=)
|
rs2102420301
|
|
NM_000228.3(LAMB3):c.1851C>T (p.Asp617=)
|
|
|
NM_000228.3(LAMB3):c.1860G>A (p.Leu620=)
|
|
|
NM_000228.3(LAMB3):c.1873C>T (p.Leu625=)
|
rs563197235
|
|
NM_000228.3(LAMB3):c.1878T>C (p.Asp626=)
|
rs377744457
|
|
NM_000228.3(LAMB3):c.1886G>A (p.Ser629Asn)
|
|
|
NM_000228.3(LAMB3):c.1896G>A (p.Glu632=)
|
rs753621603
|
|
NM_000228.3(LAMB3):c.1897C>T (p.Gln633Ter)
|
rs2102420131
|
|
NM_000228.3(LAMB3):c.189G>A (p.Gln63=)
|
|
|
NM_000228.3(LAMB3):c.18C>G (p.Leu6=)
|
rs2102467698
|
|
NM_000228.3(LAMB3):c.1900_1909del (p.Ile634fs)
|
rs2102420104
|
|
NM_000228.3(LAMB3):c.1903C>A (p.Arg635=)
|
|
|
NM_000228.3(LAMB3):c.1917C>T (p.Ser639=)
|
|
|
NM_000228.3(LAMB3):c.1944G>C (p.Val648=)
|
|
|
NM_000228.3(LAMB3):c.1948C>T (p.Gln650Ter)
|
|
|
NM_000228.3(LAMB3):c.1950G>A (p.Gln650=)
|
|
|
NM_000228.3(LAMB3):c.1962C>A (p.Ala654=)
|
rs1460665836
|
|
NM_000228.3(LAMB3):c.1976+18C>A
|
|
|
NM_000228.3(LAMB3):c.1976+19C>T
|
|
|
NM_000228.3(LAMB3):c.1976+1G>A
|
|
|
NM_000228.3(LAMB3):c.1976+8C>A
|
rs2102419910
|
|
NM_000228.3(LAMB3):c.1976+9C>T
|
|
|
NM_000228.3(LAMB3):c.1977-10C>T
|
|
|
NM_000228.3(LAMB3):c.1977-15C>T
|
|
|
NM_000228.3(LAMB3):c.1977-17C>A
|
|
|
NM_000228.3(LAMB3):c.1977-4T>C
|
|
|
NM_000228.3(LAMB3):c.1977-5C>T
|
rs2102416617
|
|
NM_000228.3(LAMB3):c.1980A>T (p.Arg660=)
|
rs2102416599
|
|
NM_000228.3(LAMB3):c.2005C>T (p.Leu669=)
|
rs1571807394
|
|
NM_000228.3(LAMB3):c.2010C>T (p.Pro670=)
|
|
|
NM_000228.3(LAMB3):c.2014del (p.Glu672fs)
|
rs2102416503
|
|
NM_000228.3(LAMB3):c.2016G>A (p.Glu672=)
|
|
|
NM_000228.3(LAMB3):c.2025G>A (p.Thr675=)
|
rs766896825
|
|
NM_000228.3(LAMB3):c.2027T>C (p.Leu676Ser)
|
rs1666321265
|
|
NM_000228.3(LAMB3):c.2028G>A (p.Leu676=)
|
rs1422291163
|
|
NM_000228.3(LAMB3):c.2031C>A (p.Ser677=)
|
rs924191339
|
|
NM_000228.3(LAMB3):c.2037G>T (p.Pro679=)
|
|
|
NM_000228.3(LAMB3):c.2043C>T (p.Asp681=)
|
|
|
NM_000228.3(LAMB3):c.2049G>A (p.Glu683=)
|
|
|
NM_000228.3(LAMB3):c.2059A>C (p.Arg687=)
|
|
|
NM_000228.3(LAMB3):c.2070T>C (p.Asn690=)
|
rs1167883454
|
|
NM_000228.3(LAMB3):c.2076C>G (p.Leu692=)
|
rs140248040
|
|
NM_000228.3(LAMB3):c.207_208dup (p.Asp70fs)
|
|
|
NM_000228.3(LAMB3):c.2103G>A (p.Glu701=)
|
|
|
NM_000228.3(LAMB3):c.2106G>A (p.Gln702=)
|
rs2102416249
|
|
NM_000228.3(LAMB3):c.2109T>C (p.Phe703=)
|
|
|
NM_000228.3(LAMB3):c.210C>T (p.Asp70=)
|
|
|
NM_000228.3(LAMB3):c.2116del (p.Lys705_Ile706insTer)
|
|
|
NM_000228.3(LAMB3):c.2133T>C (p.Pro711=)
|
rs192846348
|
|
NM_000228.3(LAMB3):c.2137+10G>A
|
|
|
NM_000228.3(LAMB3):c.2137+11G>C
|
|
|
NM_000228.3(LAMB3):c.2137+12G>A
|
|
|
NM_000228.3(LAMB3):c.2137+13G>A
|
|
|
NM_000228.3(LAMB3):c.2137+15A>G
|
|
|
NM_000228.3(LAMB3):c.2137+16C>A
|
|
|
NM_000228.3(LAMB3):c.2137+16C>G
|
|
|
NM_000228.3(LAMB3):c.2137+17C>T
|
|
|
NM_000228.3(LAMB3):c.2137+18C>A
|
|
|
NM_000228.3(LAMB3):c.2137+18C>G
|
|
|
NM_000228.3(LAMB3):c.2137+18C>T
|
|
|
NM_000228.3(LAMB3):c.2137+19G>A
|
|
|
NM_000228.3(LAMB3):c.2137+1G>T
|
rs2102416154
|
|
NM_000228.3(LAMB3):c.2137+2T>A
|
|
|
NM_000228.3(LAMB3):c.2137+9A>G
|
rs2102416141
|
|
NM_000228.3(LAMB3):c.2138-10C>A
|
|
|
NM_000228.3(LAMB3):c.2138-10C>T
|
|
|
NM_000228.3(LAMB3):c.2138-11T>C
|
|
|
NM_000228.3(LAMB3):c.2138-16A>G
|
|
|
NM_000228.3(LAMB3):c.2138-17C>T
|
|
|
NM_000228.3(LAMB3):c.2138-19C>T
|
|
|
NM_000228.3(LAMB3):c.2138-1G>A
|
rs1666304645
|
|
NM_000228.3(LAMB3):c.2138-20C>T
|
|
|
NM_000228.3(LAMB3):c.2138-4A>G
|
rs1423481045
|
|
NM_000228.3(LAMB3):c.2138-7G>T
|
rs779508669
|
|
NM_000228.3(LAMB3):c.2148G>A (p.Arg716=)
|
rs2102415849
|
|
NM_000228.3(LAMB3):c.2166C>G (p.Tyr722Ter)
|
rs552611500
|
|
NM_000228.3(LAMB3):c.217C>T (p.Gln73Ter)
|
rs762234799
|
|
NM_000228.3(LAMB3):c.2187T>C (p.Ala729=)
|
|
|
NM_000228.3(LAMB3):c.2196C>G (p.Val732=)
|
|
|
NM_000228.3(LAMB3):c.219G>A (p.Gln73=)
|
|
|
NM_000228.3(LAMB3):c.2205C>T (p.Ser735=)
|
|
|
NM_000228.3(LAMB3):c.2211C>T (p.Arg737=)
|
rs2102415611
|
|
NM_000228.3(LAMB3):c.221_225del (p.Pro74fs)
|
rs2102446289
|
|
NM_000228.3(LAMB3):c.2237G>A (p.Arg746Gln)
|
|
|
NM_000228.3(LAMB3):c.2238G>C (p.Arg746=)
|
rs2102415562
|
|
NM_000228.3(LAMB3):c.2242G>T (p.Glu748Ter)
|
|
|
NM_000228.3(LAMB3):c.2244G>A (p.Glu748=)
|
rs774356902
|
|
NM_000228.3(LAMB3):c.2256G>A (p.Leu752=)
|
|
|
NM_000228.3(LAMB3):c.2256G>T (p.Leu752=)
|
|
|
NM_000228.3(LAMB3):c.2259G>A (p.Val753=)
|
|
|
NM_000228.3(LAMB3):c.2259G>C (p.Val753=)
|
rs2102415471
|
|
NM_000228.3(LAMB3):c.225_226del (p.His75fs)
|
rs886045870
|
|
NM_000228.3(LAMB3):c.2262G>A (p.Arg754=)
|
rs1666294699
|
|
NM_000228.3(LAMB3):c.2268G>T (p.Ala756=)
|
rs779309922
|
|
NM_000228.3(LAMB3):c.2269G>T (p.Gly757Ter)
|
|
|
NM_000228.3(LAMB3):c.2277A>G (p.Gly759=)
|
|
|
NM_000228.3(LAMB3):c.2280A>C (p.Gly760=)
|
rs2102415356
|
|
NM_000228.3(LAMB3):c.2288del (p.Gly763fs)
|
rs886041893
|
|
NM_000228.3(LAMB3):c.228C>T (p.Asn76=)
|
rs2102446270
|
|
NM_000228.3(LAMB3):c.2292C>T (p.Ser764=)
|
|
|
NM_000228.3(LAMB3):c.2295C>G (p.Pro765=)
|
rs924185076
|
|
NM_000228.3(LAMB3):c.2295C>T (p.Pro765=)
|
|
|
NM_000228.3(LAMB3):c.2296_2308del (p.Pro765_Lys766insTer)
|
|
|
NM_000228.3(LAMB3):c.2300_2301dup (p.Val768fs)
|
rs1666291169
|
|
NM_000228.3(LAMB3):c.2327C>T (p.Ser776Leu)
|
|
|
NM_000228.3(LAMB3):c.2346C>T (p.Pro782=)
|
|
|
NM_000228.3(LAMB3):c.2346del (p.Thr783fs)
|
rs1057516486
|
|
NM_000228.3(LAMB3):c.2359-15_2359-14del
|
|
|
NM_000228.3(LAMB3):c.2359-16C>G
|
|
|
NM_000228.3(LAMB3):c.2359-16C>T
|
|
|
NM_000228.3(LAMB3):c.2359-17C>T
|
|
|
NM_000228.3(LAMB3):c.2359-18A>G
|
|
|
NM_000228.3(LAMB3):c.2359-6C>T
|
rs901375494
|
|
NM_000228.3(LAMB3):c.2362_2372del (p.Cys788fs)
|
rs1375506940
|
|
NM_000228.3(LAMB3):c.2367C>A (p.Gly789=)
|
|
|
NM_000228.3(LAMB3):c.2391C>G (p.Thr797=)
|
|
|
NM_000228.3(LAMB3):c.2415A>C (p.Leu805=)
|
rs1666269175
|
|
NM_000228.3(LAMB3):c.2415A>G (p.Leu805=)
|
rs1666269175
|
|
NM_000228.3(LAMB3):c.241C>A (p.Arg81=)
|
rs1064793896
|
|
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter)
|
rs1064793896
|
|
NM_000228.3(LAMB3):c.2422C>T (p.Gln808Ter)
|
rs1666268592
|
|
NM_000228.3(LAMB3):c.2430T>C (p.Asn810=)
|
rs1571805041
|
|
NM_000228.3(LAMB3):c.2445C>T (p.Gly815=)
|
rs2102414268
|
|
NM_000228.3(LAMB3):c.2448C>T (p.Ser816=)
|
rs1571804987
|
|
NM_000228.3(LAMB3):c.2454C>A (p.Cys818Ter)
|
|
|
NM_000228.3(LAMB3):c.2457G>A (p.Arg819=)
|
rs61734500
|
|
NM_000228.3(LAMB3):c.2469C>T (p.Pro823=)
|
rs1484332735
|
|
NM_000228.3(LAMB3):c.2472G>A (p.Arg824=)
|
rs749931743
|
|
NM_000228.3(LAMB3):c.2478dup (p.Gly827fs)
|
|
|
NM_000228.3(LAMB3):c.2488T>C (p.Leu830=)
|
|
|
NM_000228.3(LAMB3):c.2495del (p.Ala832fs)
|
|
|
NM_000228.3(LAMB3):c.2499G>A (p.Gly833=)
|
rs1173427850
|
|
NM_000228.3(LAMB3):c.2508T>C (p.Ala836=)
|
rs2102413972
|
|
NM_000228.3(LAMB3):c.2516del (p.Leu839fs)
|
rs1553276216
|
|
NM_000228.3(LAMB3):c.2518C>T (p.Arg840Trp)
|
|
|
NM_000228.3(LAMB3):c.2529T>C (p.Asn843=)
|
|
|
NM_000228.3(LAMB3):c.2538C>T (p.Leu846=)
|
|
|
NM_000228.3(LAMB3):c.2542C>A (p.Arg848=)
|
rs59260335
|
|
NM_000228.3(LAMB3):c.2547C>A (p.Thr849=)
|
|
|
NM_000228.3(LAMB3):c.2547C>G (p.Thr849=)
|
|
|
NM_000228.3(LAMB3):c.2550G>A (p.Arg850=)
|
rs2102413845
|
|
NM_000228.3(LAMB3):c.2551C>T (p.Gln851Ter)
|
rs1571804630
|
|
NM_000228.3(LAMB3):c.2556+12C>T
|
|
|
NM_000228.3(LAMB3):c.2556+15G>A
|
|
|
NM_000228.3(LAMB3):c.2556+17C>T
|
|
|
NM_000228.3(LAMB3):c.2556+18G>A
|
|
|
NM_000228.3(LAMB3):c.2556+20G>A
|
|
|
NM_000228.3(LAMB3):c.2556+20G>T
|
|
|
NM_000228.3(LAMB3):c.2556+8C>T
|
|
|
NM_000228.3(LAMB3):c.2557-10A>G
|
|
|
NM_000228.3(LAMB3):c.2557-16G>A
|
|
|
NM_000228.3(LAMB3):c.2557-17A>G
|
|
|
NM_000228.3(LAMB3):c.2557-1G>C
|
rs2102413223
|
|
NM_000228.3(LAMB3):c.2557-20C>G
|
|
|
NM_000228.3(LAMB3):c.2557-20C>T
|
|
|
NM_000228.3(LAMB3):c.2557-5A>T
|
|
|
NM_000228.3(LAMB3):c.2557-8G>A
|
|
|
NM_000228.3(LAMB3):c.2557-9T>C
|
|
|
NM_000228.3(LAMB3):c.255G>A (p.Val85=)
|
|
|
NM_000228.3(LAMB3):c.2560A>C (p.Arg854=)
|
rs2102413211
|
|
NM_000228.3(LAMB3):c.2568C>A (p.Ala856=)
|
rs148395967
|
|
NM_000228.3(LAMB3):c.2568C>G (p.Ala856=)
|
rs148395967
|
|
NM_000228.3(LAMB3):c.2568C>T (p.Ala856=)
|
rs148395967
|
|
NM_000228.3(LAMB3):c.2574A>G (p.Glu858=)
|
rs1198426195
|
|
NM_000228.3(LAMB3):c.2577T>C (p.Ser859=)
|
rs568142745
|
|
NM_000228.3(LAMB3):c.2601C>T (p.Ala867=)
|
rs1571803977
|
|
NM_000228.3(LAMB3):c.2605C>A (p.Arg869Ser)
|
rs11555728
|
|
NM_000228.3(LAMB3):c.2606_2658dup (p.Arg887delinsAlaTrpArgProArgTer)
|
|
|
NM_000228.3(LAMB3):c.2613G>A (p.Glu871=)
|
rs1421385586
|
|
NM_000228.3(LAMB3):c.2613_2614del (p.Glu871fs)
|
rs2102413026
|
|
NM_000228.3(LAMB3):c.2619G>A (p.Gln873=)
|
|
|
NM_000228.3(LAMB3):c.2622G>A (p.Val874=)
|
rs2102412996
|
|
NM_000228.3(LAMB3):c.2631C>T (p.Ser877=)
|
rs1257961437
|
|
NM_000228.3(LAMB3):c.2637C>T (p.Ser879=)
|
|
|
NM_000228.3(LAMB3):c.2649A>G (p.Glu883=)
|
rs2102412882
|
|
NM_000228.3(LAMB3):c.264C>T (p.Ser88=)
|
rs2076427362
|
|
NM_000228.3(LAMB3):c.2656A>C (p.Arg886=)
|
rs1666240532
|
|
NM_000228.3(LAMB3):c.2661C>A (p.Arg887=)
|
|
|
NM_000228.3(LAMB3):c.2664A>G (p.Thr888=)
|
rs2102412845
|
|
NM_000228.3(LAMB3):c.2664A>T (p.Thr888=)
|
rs2102412845
|
|
NM_000228.3(LAMB3):c.2665C>A (p.Arg889=)
|
|
|
NM_000228.3(LAMB3):c.2667G>A (p.Arg889=)
|
rs1666239335
|
|
NM_000228.3(LAMB3):c.2670C>T (p.Leu890=)
|
rs965363325
|
|
NM_000228.3(LAMB3):c.267C>A (p.Ser89=)
|
|
|
NM_000228.3(LAMB3):c.2682G>A (p.Gln894=)
|
rs764193178
|
|
NM_000228.3(LAMB3):c.2685_2701+2del
|
rs1571803654
|
|
NM_000228.3(LAMB3):c.2691C>T (p.Asp897=)
|
|
|
NM_000228.3(LAMB3):c.2694C>T (p.Phe898=)
|
rs267598350
|
|
NM_000228.3(LAMB3):c.2697A>C (p.Leu899=)
|
|
|
NM_000228.3(LAMB3):c.2701+10G>T
|
rs2102412672
|
|
NM_000228.3(LAMB3):c.2701+16del
|
|
|
NM_000228.3(LAMB3):c.2701+20C>A
|
|
|
NM_000228.3(LAMB3):c.2701+20C>G
|
|
|
NM_000228.3(LAMB3):c.2701+2T>C
|
|
|
NM_000228.3(LAMB3):c.2701+9A>T
|
rs762387886
|
|
NM_000228.3(LAMB3):c.2702-11T>G
|
|
|
NM_000228.3(LAMB3):c.2702-12G>A
|
|
|
NM_000228.3(LAMB3):c.2702-13_2702-12insC
|
|
|
NM_000228.3(LAMB3):c.2702-15C>T
|
|
|
NM_000228.3(LAMB3):c.2702-18A>G
|
|
|
NM_000228.3(LAMB3):c.2702-20_2702-17dup
|
|
|
NM_000228.3(LAMB3):c.2702-4C>T
|
rs2102407089
|
|
NM_000228.3(LAMB3):c.2702-7C>G
|
|
|
NM_000228.3(LAMB3):c.2703C>T (p.Asp901=)
|
rs1478616926
|
|
NM_000228.3(LAMB3):c.2712dup (p.Asp905Ter)
|
|
|
NM_000228.3(LAMB3):c.2746G>A (p.Val916Met)
|
|
|
NM_000228.3(LAMB3):c.2751G>A (p.Leu917=)
|
|
|
NM_000228.3(LAMB3):c.2751G>T (p.Leu917=)
|
|
|
NM_000228.3(LAMB3):c.2755C>T (p.Leu919=)
|
rs764065772
|
|
NM_000228.3(LAMB3):c.2757G>A (p.Leu919=)
|
|
|
NM_000228.3(LAMB3):c.2763G>A (p.Leu921=)
|
rs2102406910
|
|
NM_000228.3(LAMB3):c.2768_2769del (p.Thr923fs)
|
rs1558148080
|
|
NM_000228.3(LAMB3):c.2772C>T (p.Asp924=)
|
rs2102406885
|
|
NM_000228.3(LAMB3):c.2778T>C (p.Ala926=)
|
|
|
NM_000228.3(LAMB3):c.2785C>T (p.Leu929=)
|
rs2102406838
|
|
NM_000228.3(LAMB3):c.2788C>T (p.Gln930Ter)
|
rs2102406831
|
|
NM_000228.3(LAMB3):c.2793G>A (p.Lys931=)
|
rs1324089733
|
|
NM_000228.3(LAMB3):c.2799T>C (p.Asn933=)
|
rs1480482096
|
|
NM_000228.3(LAMB3):c.279C>T (p.Arg93=)
|
rs2102446148
|
|
NM_000228.3(LAMB3):c.28+12T>G
|
|
|
NM_000228.3(LAMB3):c.28+16C>G
|
|
|
NM_000228.3(LAMB3):c.28+1G>T
|
rs113077137
|
|
NM_000228.3(LAMB3):c.28+4A>C
|
rs2102467676
|
|
NM_000228.3(LAMB3):c.28+8C>A
|
rs774188448
|
|
NM_000228.3(LAMB3):c.28+8C>T
|
|
|
NM_000228.3(LAMB3):c.2806C>T (p.Gln936Ter)
|
rs121912485
|
|
NM_000228.3(LAMB3):c.2823del (p.Arg941fs)
|
|
|
NM_000228.3(LAMB3):c.2842del (p.Val948fs)
|
rs772421306
|
|
NM_000228.3(LAMB3):c.2865C>T (p.Asp955=)
|
|
|
NM_000228.3(LAMB3):c.2871G>C (p.Ala957=)
|
rs143164025
|
|
NM_000228.3(LAMB3):c.2872del (p.Arg958fs)
|
rs2102406610
|
|
NM_000228.3(LAMB3):c.2873G>A (p.Arg958His)
|
rs142984572
|
|
NM_000228.3(LAMB3):c.29-14C>A
|
|
|
NM_000228.3(LAMB3):c.29-18A>T
|
|
|
NM_000228.3(LAMB3):c.29-19C>T
|
|
|
NM_000228.3(LAMB3):c.29-20_29-19insCTCCATCAA
|
|
|
NM_000228.3(LAMB3):c.29-2A>G
|
rs371267954
|
|
NM_000228.3(LAMB3):c.29-4T>C
|
|
|
NM_000228.3(LAMB3):c.2909+10T>C
|
rs2102406522
|
|
NM_000228.3(LAMB3):c.2909+11G>A
|
|
|
NM_000228.3(LAMB3):c.2909+11G>T
|
|
|
NM_000228.3(LAMB3):c.2909+12G>A
|
|
|
NM_000228.3(LAMB3):c.2909+13G>A
|
|
|
NM_000228.3(LAMB3):c.2909+14C>T
|
|
|
NM_000228.3(LAMB3):c.2909+18G>C
|
|
|
NM_000228.3(LAMB3):c.2910-19T>C
|
|
|
NM_000228.3(LAMB3):c.2910-1G>A
|
rs2102405986
|
|
NM_000228.3(LAMB3):c.2910-4C>A
|
|
|
NM_000228.3(LAMB3):c.2910-5C>T
|
rs2102406006
|
|
NM_000228.3(LAMB3):c.2910-6_2910-4del
|
|
|
NM_000228.3(LAMB3):c.2912G>A (p.Ser971Asn)
|
|
|
NM_000228.3(LAMB3):c.2919C>G (p.Ala973=)
|
rs2102405954
|
|
NM_000228.3(LAMB3):c.291A>T (p.Ser97=)
|
|
|
NM_000228.3(LAMB3):c.2928G>A (p.Val976=)
|
|
|
NM_000228.3(LAMB3):c.2931G>A (p.Glu977=)
|
rs1558147526
|
|
NM_000228.3(LAMB3):c.2943A>G (p.Glu981=)
|
|
|
NM_000228.3(LAMB3):c.2946T>C (p.Asp982=)
|
|
|
NM_000228.3(LAMB3):c.2949G>A (p.Val983=)
|
|
|
NM_000228.3(LAMB3):c.2952T>C (p.Val984=)
|
|
|
NM_000228.3(LAMB3):c.2955G>A (p.Gly985=)
|
rs1191874714
|
|
NM_000228.3(LAMB3):c.2958C>T (p.Asn986=)
|
rs2102405875
|
|
NM_000228.3(LAMB3):c.2961G>A (p.Leu987=)
|
rs2102405870
|
|
NM_000228.3(LAMB3):c.2962C>A (p.Arg988=)
|
rs2229467
|
|
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp)
|
rs2229467
|
|
NM_000228.3(LAMB3):c.2964G>T (p.Arg988=)
|
|
|
NM_000228.3(LAMB3):c.2970G>C (p.Gly990=)
|
|
|
NM_000228.3(LAMB3):c.2970G>T (p.Gly990=)
|
|
|
NM_000228.3(LAMB3):c.2975del (p.Val992fs)
|
|
|
NM_000228.3(LAMB3):c.2976G>A (p.Val992=)
|
rs1553275442
|
|
NM_000228.3(LAMB3):c.298+12C>T
|
|
|
NM_000228.3(LAMB3):c.298+14A>G
|
|
|
NM_000228.3(LAMB3):c.298+17T>C
|
|
|
NM_000228.3(LAMB3):c.298+18A>G
|
|
|
NM_000228.3(LAMB3):c.298+19C>T
|
|
|
NM_000228.3(LAMB3):c.298+1G>A
|
|
|
NM_000228.3(LAMB3):c.298+20G>A
|
|
|
NM_000228.3(LAMB3):c.2988A>G (p.Glu996=)
|
rs886336162
|
|
NM_000228.3(LAMB3):c.299-10G>C
|
|
|
NM_000228.3(LAMB3):c.299-18T>C
|
|
|
NM_000228.3(LAMB3):c.299-5T>C
|
|
|
NM_000228.3(LAMB3):c.299-5T>G
|
|
|
NM_000228.3(LAMB3):c.2994G>A (p.Gln998=)
|
rs906919650
|
|
NM_000228.3(LAMB3):c.3006A>G (p.Gln1002=)
|
rs1261465875
|
|
NM_000228.3(LAMB3):c.3024del (p.Arg1009fs)
|
rs777292177
|
|
NM_000228.3(LAMB3):c.3030T>C (p.Leu1010=)
|
rs765632243
|
|
NM_000228.3(LAMB3):c.3034C>T (p.Gln1012Ter)
|
rs1057516756
|
|
NM_000228.3(LAMB3):c.3040A>C (p.Arg1014=)
|
|
|
NM_000228.3(LAMB3):c.3042G>A (p.Arg1014=)
|
|
|
NM_000228.3(LAMB3):c.3048T>C (p.Ala1016=)
|
rs939382060
|
|
NM_000228.3(LAMB3):c.3051+11A>T
|
|
|
NM_000228.3(LAMB3):c.3051+15C>T
|
|
|
NM_000228.3(LAMB3):c.3051+16T>C
|
|
|
NM_000228.3(LAMB3):c.3051+19C>T
|
|
|
NM_000228.3(LAMB3):c.3052-11T>C
|
|
|
NM_000228.3(LAMB3):c.3052-12C>T
|
|
|
NM_000228.3(LAMB3):c.3052-18C>T
|
|
|
NM_000228.3(LAMB3):c.3052-6A>G
|
|
|
NM_000228.3(LAMB3):c.3052-9T>G
|
|
|
NM_000228.3(LAMB3):c.3066G>A (p.Leu1022=)
|
rs2102405115
|
|
NM_000228.3(LAMB3):c.3079A>T (p.Lys1027Ter)
|
rs2102405073
|
|
NM_000228.3(LAMB3):c.3084G>A (p.Leu1028=)
|
rs2102405063
|
|
NM_000228.3(LAMB3):c.308del (p.Pro103fs)
|
rs1553279073
|
|
NM_000228.3(LAMB3):c.3099C>G (p.Thr1033=)
|
rs2102405024
|
|
NM_000228.3(LAMB3):c.3102G>A (p.Lys1034=)
|
|
|
NM_000228.3(LAMB3):c.3111T>C (p.Gly1037=)
|
|
|
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter)
|
rs1057516759
|
|
NM_000228.3(LAMB3):c.3123A>G (p.Thr1041=)
|
rs2102405002
|
|
NM_000228.3(LAMB3):c.3125G>A (p.Arg1042Gln)
|
rs749709873
|
|
NM_000228.3(LAMB3):c.312C>A (p.Val104=)
|
rs2102445013
|
|
NM_000228.3(LAMB3):c.3132G>A (p.Glu1044=)
|
|
|
NM_000228.3(LAMB3):c.3148del (p.Ala1050fs)
|
|
|
NM_000228.3(LAMB3):c.3162G>A (p.Gly1054=)
|
rs2102404885
|
|
NM_000228.3(LAMB3):c.3163del (p.Ala1055fs)
|
|
|
NM_000228.3(LAMB3):c.3171A>C (p.Ala1057=)
|
rs2102404865
|
|
NM_000228.3(LAMB3):c.3177G>A (p.Gln1059=)
|
|
|
NM_000228.3(LAMB3):c.3180C>A (p.Ala1060=)
|
|
|
NM_000228.3(LAMB3):c.3189T>C (p.Leu1063=)
|
rs2102404828
|
|
NM_000228.3(LAMB3):c.3190_3191delinsTA (p.Ala1064Ter)
|
|
|
NM_000228.3(LAMB3):c.31dup (p.Leu11fs)
|
rs777672897
|
|
NM_000228.3(LAMB3):c.3201C>T (p.Ala1067=)
|
rs2102404792
|
|
NM_000228.3(LAMB3):c.3213A>T (p.Ala1071=)
|
|
|
NM_000228.3(LAMB3):c.3228+10A>C
|
|
|
NM_000228.3(LAMB3):c.3228+11G>A
|
rs1420480218
|
|
NM_000228.3(LAMB3):c.3228+13C>T
|
|
|
NM_000228.3(LAMB3):c.3228+14G>A
|
|
|
NM_000228.3(LAMB3):c.3228+14G>T
|
|
|
NM_000228.3(LAMB3):c.3228+17G>T
|
|
|
NM_000228.3(LAMB3):c.3228+18T>C
|
|
|
NM_000228.3(LAMB3):c.3228+1G>A
|
rs778026407
|
|
NM_000228.3(LAMB3):c.3228+2T>A
|
|
|
NM_000228.3(LAMB3):c.3229-16A>G
|
|
|
NM_000228.3(LAMB3):c.3229-19A>G
|
|
|
NM_000228.3(LAMB3):c.3229-4T>G
|
|
|
NM_000228.3(LAMB3):c.3229-9C>T
|
rs1305457001
|
|
NM_000228.3(LAMB3):c.3231A>T (p.Gly1077=)
|
|
|
NM_000228.3(LAMB3):c.3237G>A (p.Glu1079=)
|
rs1020889996
|
|
NM_000228.3(LAMB3):c.3239_3240del (p.Arg1080fs)
|
rs985107396
|
|
NM_000228.3(LAMB3):c.3240A>G (p.Arg1080=)
|
rs1422506859
|
|
NM_000228.3(LAMB3):c.3273G>A (p.Arg1091=)
|
rs1665975799
|
|
NM_000228.3(LAMB3):c.3273G>T (p.Arg1091=)
|
|
|
NM_000228.3(LAMB3):c.328del (p.Leu110fs)
|
|
|
NM_000228.3(LAMB3):c.3294G>A (p.Leu1098=)
|
rs1571795166
|
|
NM_000228.3(LAMB3):c.3306T>A (p.Gly1102=)
|
|
|
NM_000228.3(LAMB3):c.3321T>C (p.Ser1107=)
|
|
|
NM_000228.3(LAMB3):c.3333G>A (p.Glu1111=)
|
|
|
NM_000228.3(LAMB3):c.333C>T (p.Asp111=)
|
|
|
NM_000228.3(LAMB3):c.3342G>A (p.Glu1114=)
|
|
|
NM_000228.3(LAMB3):c.3343C>T (p.Leu1115=)
|
rs2102403346
|
|
NM_000228.3(LAMB3):c.3351G>A (p.Gly1117=)
|
|
|
NM_000228.3(LAMB3):c.3351G>T (p.Gly1117=)
|
|
|
NM_000228.3(LAMB3):c.3354G>A (p.Glu1118=)
|
|
|
NM_000228.3(LAMB3):c.3357C>T (p.Thr1119=)
|
|
|
NM_000228.3(LAMB3):c.337A>C (p.Arg113=)
|
rs371231587
|
|
NM_000228.3(LAMB3):c.3382+20G>A
|
|
|
NM_000228.3(LAMB3):c.3383-15T>C
|
|
|
NM_000228.3(LAMB3):c.3383-16G>A
|
|
|
NM_000228.3(LAMB3):c.3393G>A (p.Leu1131=)
|
|
|
NM_000228.3(LAMB3):c.3399G>T (p.Leu1133=)
|
rs2102401872
|
|
NM_000228.3(LAMB3):c.33G>A (p.Leu11=)
|
|
|
NM_000228.3(LAMB3):c.33G>T (p.Leu11=)
|
|
|
NM_000228.3(LAMB3):c.3403C>T (p.Arg1135Trp)
|
|
|
NM_000228.3(LAMB3):c.3408C>T (p.Gly1136=)
|
rs2102401831
|
|
NM_000228.3(LAMB3):c.3417C>G (p.Ala1139=)
|
|
|
NM_000228.3(LAMB3):c.3428G>A (p.Arg1143His)
|
|
|
NM_000228.3(LAMB3):c.3429C>T (p.Arg1143=)
|
rs2102401735
|
|
NM_000228.3(LAMB3):c.3450G>A (p.Leu1150=)
|
rs2102401656
|
|
NM_000228.3(LAMB3):c.3453G>A (p.Glu1151=)
|
rs2102401644
|
|
NM_000228.3(LAMB3):c.3456G>A (p.Lys1152=)
|
|
|
NM_000228.3(LAMB3):c.345G>A (p.Gln115=)
|
|
|
NM_000228.3(LAMB3):c.3483C>T (p.Ile1161=)
|
|
|
NM_000228.3(LAMB3):c.3492C>T (p.Arg1164=)
|
|
|
NM_000228.3(LAMB3):c.349C>T (p.Gln117Ter)
|
rs2102444886
|
|
NM_000228.3(LAMB3):c.3501C>T (p.Tyr1167=)
|
rs759625668
|
|
NM_000228.3(LAMB3):c.3507C>T (p.Ala1169=)
|
|
|
NM_000228.3(LAMB3):c.351A>G (p.Gln117=)
|
|
|
NM_000228.3(LAMB3):c.357C>T (p.Val119=)
|
rs2102444854
|
|
NM_000228.3(LAMB3):c.364G>T (p.Glu122Ter)
|
|
|
NM_000228.3(LAMB3):c.369C>T (p.Phe123=)
|
rs1054996621
|
|
NM_000228.3(LAMB3):c.370C>T (p.Gln124Ter)
|
|
|
NM_000228.3(LAMB3):c.372+13G>A
|
|
|
NM_000228.3(LAMB3):c.372+13G>C
|
|
|
NM_000228.3(LAMB3):c.372+15G>C
|
|
|
NM_000228.3(LAMB3):c.372+16G>A
|
|
|
NM_000228.3(LAMB3):c.372+16G>T
|
|
|
NM_000228.3(LAMB3):c.372+16dup
|
|
|
NM_000228.3(LAMB3):c.372+18G>A
|
|
|
NM_000228.3(LAMB3):c.372+1G>C
|
rs1553279044
|
|
NM_000228.3(LAMB3):c.372+9C>T
|
|
|
NM_000228.3(LAMB3):c.373-10G>C
|
rs2102438880
|
|
NM_000228.3(LAMB3):c.373-12C>T
|
|
|
NM_000228.3(LAMB3):c.373-15C>T
|
rs377371473
|
|
NM_000228.3(LAMB3):c.373-18C>T
|
|
|
NM_000228.3(LAMB3):c.373-6C>T
|
rs1666829631
|
|
NM_000228.3(LAMB3):c.375G>A (p.Gly125=)
|
|
|
NM_000228.3(LAMB3):c.378C>T (p.Pro126=)
|
|
|
NM_000228.3(LAMB3):c.378_387del (p.Met127fs)
|
|
|
NM_000228.3(LAMB3):c.384C>G (p.Pro128=)
|
|
|
NM_000228.3(LAMB3):c.388G>A (p.Gly130Ser)
|
|
|
NM_000228.3(LAMB3):c.396G>T (p.Leu132=)
|
|
|
NM_000228.3(LAMB3):c.399T>C (p.Ile133=)
|
rs1419165692
|
|
NM_000228.3(LAMB3):c.3G>A (p.Met1Ile)
|
|
|
NM_000228.3(LAMB3):c.420T>G (p.Gly140=)
|
rs2102438685
|
|
NM_000228.3(LAMB3):c.422dup (p.Thr142fs)
|
rs1455026782
|
|
NM_000228.3(LAMB3):c.428G>A (p.Trp143Ter)
|
rs2102438650
|
|
NM_000228.3(LAMB3):c.429G>A (p.Trp143Ter)
|
rs369555024
|
|
NM_000228.3(LAMB3):c.430C>A (p.Arg144=)
|
|
|
NM_000228.3(LAMB3):c.432A>G (p.Arg144=)
|
|
|
NM_000228.3(LAMB3):c.435_436del (p.Tyr146fs)
|
rs1666824858
|
|
NM_000228.3(LAMB3):c.436dup (p.Tyr146fs)
|
rs1666824711
|
|
NM_000228.3(LAMB3):c.438C>T (p.Tyr146=)
|
|
|
NM_000228.3(LAMB3):c.450T>C (p.Ala150=)
|
rs891400449
|
|
NM_000228.3(LAMB3):c.471C>T (p.Phe157=)
|
rs749866341
|
|
NM_000228.3(LAMB3):c.477G>T (p.Arg159=)
|
rs1666821982
|
|
NM_000228.3(LAMB3):c.484C>T (p.Gln162Ter)
|
rs2102438416
|
|
NM_000228.3(LAMB3):c.492G>A (p.Arg164=)
|
rs753862334
|
|
NM_000228.3(LAMB3):c.492G>C (p.Arg164=)
|
|
|
NM_000228.3(LAMB3):c.495T>C (p.Pro165=)
|
rs765773474
|
|
NM_000228.3(LAMB3):c.496C>T (p.Gln166Ter)
|
rs121912483
|
|
NM_000228.3(LAMB3):c.499_500del (p.Ser167fs)
|
rs1057516241
|
|
NM_000228.3(LAMB3):c.504G>A (p.Trp168Ter)
|
rs1163346468
|
|
NM_000228.3(LAMB3):c.510T>C (p.Asp170=)
|
|
|
NM_000228.3(LAMB3):c.514C>T (p.Arg172Trp)
|
|
|
NM_000228.3(LAMB3):c.516G>A (p.Arg172=)
|
|
|
NM_000228.3(LAMB3):c.51C>T (p.Ala17=)
|
|
|
NM_000228.3(LAMB3):c.525C>T (p.Ser175=)
|
|
|
NM_000228.3(LAMB3):c.52C>T (p.Gln18Ter)
|
rs777231178
|
|
NM_000228.3(LAMB3):c.531T>C (p.Pro177=)
|
rs2102438261
|
|
NM_000228.3(LAMB3):c.540_541delinsGG (p.Asn181Asp)
|
|
|
NM_000228.3(LAMB3):c.549C>A (p.Arg183=)
|
|
|
NM_000228.3(LAMB3):c.55C>T (p.Gln19Ter)
|
rs200672750
|
|
NM_000228.3(LAMB3):c.561G>A (p.Gly187=)
|
|
|
NM_000228.3(LAMB3):c.564+11G>A
|
|
|
NM_000228.3(LAMB3):c.564+12G>A
|
|
|
NM_000228.3(LAMB3):c.564+16C>T
|
|
|
NM_000228.3(LAMB3):c.564+1G>A
|
|
|
NM_000228.3(LAMB3):c.564+7A>G
|
|
|
NM_000228.3(LAMB3):c.565-14C>T
|
|
|
NM_000228.3(LAMB3):c.565-19C>T
|
|
|
NM_000228.3(LAMB3):c.565-1G>C
|
|
|
NM_000228.3(LAMB3):c.565-20T>A
|
|
|
NM_000228.3(LAMB3):c.567C>T (p.Val189=)
|
|
|
NM_000228.3(LAMB3):c.573T>G (p.Leu191=)
|
|
|
NM_000228.3(LAMB3):c.579T>C (p.Leu193=)
|
|
|
NM_000228.3(LAMB3):c.591G>C (p.Val197=)
|
|
|
NM_000228.3(LAMB3):c.609T>A (p.Thr203=)
|
rs1322037366
|
|
NM_000228.3(LAMB3):c.60C>T (p.Ala20=)
|
|
|
NM_000228.3(LAMB3):c.613dup (p.Ser205fs)
|
|
|
NM_000228.3(LAMB3):c.616C>T (p.Gln206Ter)
|
rs775405524
|
|
NM_000228.3(LAMB3):c.622del (p.Ile208fs)
|
rs768303931
|
|
NM_000228.3(LAMB3):c.628+10G>C
|
rs1015461881
|
|
NM_000228.3(LAMB3):c.628+10G>T
|
rs1015461881
|
|
NM_000228.3(LAMB3):c.628+2T>A
|
rs1666753666
|
|
NM_000228.3(LAMB3):c.628+7G>A
|
rs1337480542
|
|
NM_000228.3(LAMB3):c.628+7G>C
|
rs1337480542
|
|
NM_000228.3(LAMB3):c.628+9G>A
|
rs965186471
|
|
NM_000228.3(LAMB3):c.629-10G>T
|
|
|
NM_000228.3(LAMB3):c.629-11G>T
|
|
|
NM_000228.3(LAMB3):c.629-12T>A
|
|
|
NM_000228.3(LAMB3):c.633G>A (p.Val211=)
|
|
|
NM_000228.3(LAMB3):c.633G>T (p.Val211=)
|
rs1392249491
|
|
NM_000228.3(LAMB3):c.636G>A (p.Gly212=)
|
rs2102434876
|
|
NM_000228.3(LAMB3):c.639G>A (p.Glu213=)
|
|
|
NM_000228.3(LAMB3):c.649T>C (p.Leu217=)
|
|
|
NM_000228.3(LAMB3):c.652A>C (p.Arg218=)
|
|
|
NM_000228.3(LAMB3):c.667del (p.Arg223fs)
|
rs2102434789
|
|
NM_000228.3(LAMB3):c.672G>A (p.Leu224=)
|
|
|
NM_000228.3(LAMB3):c.675C>T (p.Ala225=)
|
|
|
NM_000228.3(LAMB3):c.678T>C (p.Pro226=)
|
rs778486899
|
|
NM_000228.3(LAMB3):c.696C>A (p.Tyr232Ter)
|
|
|
NM_000228.3(LAMB3):c.696C>T (p.Tyr232=)
|
|
|
NM_000228.3(LAMB3):c.69_70del (p.Ala25fs)
|
rs1057516884
|
|
NM_000228.3(LAMB3):c.741G>A (p.Gln247=)
|
|
|
NM_000228.3(LAMB3):c.744G>A (p.Gly248=)
|
|
|
NM_000228.3(LAMB3):c.744G>C (p.Gly248=)
|
rs772980989
|
|
NM_000228.3(LAMB3):c.747C>T (p.Ser249=)
|
|
|
NM_000228.3(LAMB3):c.753C>T (p.Phe251=)
|
|
|
NM_000228.3(LAMB3):c.75C>T (p.Ala25=)
|
|
|
NM_000228.3(LAMB3):c.762C>T (p.Gly254=)
|
rs2102434479
|
|
NM_000228.3(LAMB3):c.765T>C (p.His255=)
|
|
|
NM_000228.3(LAMB3):c.76dup (p.Cys26fs)
|
rs1553281335
|
|
NM_000228.3(LAMB3):c.781C>G (p.Pro261Ala)
|
|
|
NM_000228.3(LAMB3):c.783C>A (p.Pro261=)
|
|
|
NM_000228.3(LAMB3):c.792G>A (p.Gly264=)
|
rs1053510730
|
|
NM_000228.3(LAMB3):c.795C>T (p.Ala265=)
|
rs2102434354
|
|
NM_000228.3(LAMB3):c.801A>G (p.Ala267=)
|
|
|
NM_000228.3(LAMB3):c.804C>A (p.Gly268=)
|
rs1666731363
|
|
NM_000228.3(LAMB3):c.806_807del (p.Pro269fs)
|
|
|
NM_000228.3(LAMB3):c.810del (p.Thr271fs)
|
|
|
NM_000228.3(LAMB3):c.822+10T>G
|
|
|
NM_000228.3(LAMB3):c.822+13G>T
|
|
|
NM_000228.3(LAMB3):c.822+14G>A
|
|
|
NM_000228.3(LAMB3):c.822+16G>A
|
|
|
NM_000228.3(LAMB3):c.822+18G>C
|
|
|
NM_000228.3(LAMB3):c.822+6_822+8del
|
|
|
NM_000228.3(LAMB3):c.822+7G>A
|
|
|
NM_000228.3(LAMB3):c.822+8C>G
|
rs768195904
|
|
NM_000228.3(LAMB3):c.823-11C>A
|
|
|
NM_000228.3(LAMB3):c.823-11C>G
|
|
|
NM_000228.3(LAMB3):c.823-16A>G
|
|
|
NM_000228.3(LAMB3):c.823-1G>A
|
rs778372285
|
|
NM_000228.3(LAMB3):c.823-1G>T
|
rs778372285
|
|
NM_000228.3(LAMB3):c.823-2A>C
|
|
|
NM_000228.3(LAMB3):c.823-2A>T
|
rs2102430895
|
|
NM_000228.3(LAMB3):c.823-7C>G
|
|
|
NM_000228.3(LAMB3):c.823-7C>T
|
rs747405176
|
|
NM_000228.3(LAMB3):c.823-7del
|
|
|
NM_000228.3(LAMB3):c.823-8C>G
|
|
|
NM_000228.3(LAMB3):c.823-8C>T
|
|
|
NM_000228.3(LAMB3):c.823-9C>G
|
|
|
NM_000228.3(LAMB3):c.828C>G (p.His276Gln)
|
|
|
NM_000228.3(LAMB3):c.828C>T (p.His276=)
|
rs182105392
|
|
NM_000228.3(LAMB3):c.831T>C (p.Asp277=)
|
rs1571818664
|
|
NM_000228.3(LAMB3):c.834C>G (p.Val278=)
|
rs2102430848
|
|
NM_000228.3(LAMB3):c.834C>T (p.Val278=)
|
|
|
NM_000228.3(LAMB3):c.849C>T (p.His283=)
|
|
|
NM_000228.3(LAMB3):c.858C>A (p.Ala286=)
|
rs200006309
|
|
NM_000228.3(LAMB3):c.858C>T (p.Ala286=)
|
rs200006309
|
|
NM_000228.3(LAMB3):c.863del (p.Pro288fs)
|
|
|
NM_000228.3(LAMB3):c.873G>A (p.Glu291=)
|
rs2102430735
|
|
NM_000228.3(LAMB3):c.875G>T (p.Arg292Leu)
|
rs12091253
|
|
NM_000228.3(LAMB3):c.877T>A (p.Cys293Ser)
|
|
|
NM_000228.3(LAMB3):c.898C>T (p.Arg300Trp)
|
|
|
NM_000228.3(LAMB3):c.903C>T (p.Pro301=)
|
|
|
NM_000228.3(LAMB3):c.903dup (p.Trp302fs)
|
|
|
NM_000228.3(LAMB3):c.906G>A (p.Trp302Ter)
|
|
|
NM_000228.3(LAMB3):c.912G>T (p.Pro304=)
|
|
|
NM_000228.3(LAMB3):c.927C>T (p.Asp309=)
|
rs141059189
|
|
NM_000228.3(LAMB3):c.939C>A (p.Cys313Ter)
|
|
|
NM_000228.3(LAMB3):c.939C>T (p.Cys313=)
|
rs773700438
|
|
NM_000228.3(LAMB3):c.943+10T>A
|
|
|
NM_000228.3(LAMB3):c.943+11T>G
|
|
|
NM_000228.3(LAMB3):c.943+12G>C
|
|
|
NM_000228.3(LAMB3):c.943+15T>A
|
|
|
NM_000228.3(LAMB3):c.943+18_943+19insA
|
|
|
NM_000228.3(LAMB3):c.943+19C>T
|
|
|
NM_000228.3(LAMB3):c.943+1G>A
|
rs1666645866
|
|
NM_000228.3(LAMB3):c.943+1G>C
|
rs1666645866
|
|
NM_000228.3(LAMB3):c.943+2T>G
|
rs1464038626
|
|
NM_000228.3(LAMB3):c.943+3A>G
|
|
|
NM_000228.3(LAMB3):c.944-4C>T
|
rs778642916
|
|
NM_000228.3(LAMB3):c.945G>A (p.Arg315=)
|
|
|
NM_000228.3(LAMB3):c.948C>A (p.Cys316Ter)
|
rs779681550
|
|
NM_000228.3(LAMB3):c.960G>A (p.Gly320=)
|
rs1666616667
|
|
NM_000228.3(LAMB3):c.967G>T (p.Glu323Ter)
|
|
|
NM_000228.3(LAMB3):c.972A>G (p.Thr324=)
|
|
|
NM_000228.3(LAMB3):c.975T>A (p.Cys325Ter)
|
rs1666615300
|
|
NM_000228.3(LAMB3):c.989C>T (p.Ala330Val)
|
|
|
NM_000228.3(LAMB3):c.993G>A (p.Val331=)
|
|
|