NM_024301.5(FKRP):c.-34C>T
|
rs3201779
|
0.17414
|
NM_024301.5(FKRP):c.135C>T (p.Ala45=)
|
rs2287717
|
0.14031
|
NM_024301.5(FKRP):c.192C>T (p.Pro64=)
|
rs111754012
|
0.01474
|
NM_024301.5(FKRP):c.585C>T (p.Asp195=)
|
rs75079578
|
0.01080
|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
NM_024301.5(FKRP):c.249C>T (p.Ala83=)
|
rs149030303
|
0.00897
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)
|
rs148206382
|
0.00359
|
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=)
|
rs77351928
|
0.00330
|
NM_024301.5(FKRP):c.822C>G (p.Ile274Met)
|
rs77138370
|
0.00251
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
NM_024301.5(FKRP):c.567C>T (p.Pro189=)
|
rs201454433
|
0.00144
|
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)
|
rs528000488
|
0.00124
|
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)
|
rs200990647
|
0.00109
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)
|
rs762283381
|
0.00071
|
NM_024301.5(FKRP):c.606G>A (p.Leu202=)
|
rs140084192
|
0.00066
|
NM_024301.5(FKRP):c.531G>A (p.Glu177=)
|
rs768007208
|
0.00057
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp)
|
rs144236975
|
0.00031
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr)
|
rs776947530
|
0.00026
|
NM_024301.5(FKRP):c.885C>T (p.Arg295=)
|
rs769005880
|
0.00022
|
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln)
|
rs140217866
|
0.00016
|
NM_024301.5(FKRP):c.1405C>T (p.Leu469=)
|
rs143129484
|
0.00015
|
NM_024301.5(FKRP):c.828A>G (p.Leu276=)
|
rs745994685
|
0.00013
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser)
|
rs771333733
|
0.00011
|
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly)
|
rs753297636
|
0.00011
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
NM_024301.5(FKRP):c.54T>A (p.Leu18=)
|
rs565563742
|
0.00008
|
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser)
|
rs777245868
|
0.00006
|
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr)
|
rs746905689
|
0.00006
|
NM_024301.5(FKRP):c.563C>T (p.Ala188Val)
|
rs768762059
|
0.00006
|
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu)
|
rs750041378
|
0.00006
|
NM_024301.5(FKRP):c.633G>A (p.Ser211=)
|
rs921883036
|
0.00006
|
NM_024301.5(FKRP):c.1270A>C (p.Asn424His)
|
rs769568971
|
0.00005
|
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu)
|
rs375326964
|
0.00005
|
NM_024301.5(FKRP):c.295G>A (p.Val99Met)
|
rs776733780
|
0.00005
|
NM_024301.5(FKRP):c.1119C>A (p.Gly373=)
|
rs370575962
|
0.00004
|
NM_024301.5(FKRP):c.1236C>T (p.His412=)
|
rs201076863
|
0.00004
|
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val)
|
rs749109905
|
0.00004
|
NM_024301.5(FKRP):c.1407G>A (p.Leu469=)
|
rs1351635868
|
0.00004
|
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter)
|
rs1051900223
|
0.00004
|
NM_024301.5(FKRP):c.232C>T (p.Pro78Ser)
|
rs747511445
|
0.00004
|
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)
|
rs758759348
|
0.00004
|
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)
|
rs543163491
|
0.00004
|
NM_024301.5(FKRP):c.569G>A (p.Arg190His)
|
rs917645867
|
0.00004
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile)
|
rs369666163
|
0.00003
|
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)
|
rs936866997
|
0.00003
|
NM_024301.5(FKRP):c.395G>C (p.Gly132Ala)
|
rs755588907
|
0.00003
|
NM_024301.5(FKRP):c.446G>A (p.Arg149His)
|
rs1449983261
|
0.00003
|
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro)
|
rs1318966349
|
0.00003
|
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)
|
rs201951207
|
0.00003
|
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser)
|
rs959679901
|
0.00003
|
NM_024301.5(FKRP):c.797C>T (p.Ala266Val)
|
rs1276654268
|
0.00003
|
NM_024301.5(FKRP):c.1291A>G (p.Thr431Ala)
|
rs1060502112
|
0.00002
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)
|
rs770711331
|
0.00002
|
NM_024301.5(FKRP):c.434T>G (p.Val145Gly)
|
rs745681948
|
0.00002
|
NM_024301.5(FKRP):c.483C>T (p.Ala161=)
|
rs797045576
|
0.00002
|
NM_024301.5(FKRP):c.554C>T (p.Ala185Val)
|
rs1032563159
|
0.00002
|
NM_024301.5(FKRP):c.628C>G (p.Leu210Val)
|
rs778472624
|
0.00002
|
NM_024301.5(FKRP):c.725C>T (p.Ala242Val)
|
rs1298321836
|
0.00002
|
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)
|
rs1247934219
|
0.00002
|
NM_024301.5(FKRP):c.85C>T (p.His29Tyr)
|
rs886043192
|
0.00002
|
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala)
|
rs921829148
|
0.00002
|
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp)
|
rs1365712686
|
0.00002
|
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe)
|
rs1322997651
|
0.00001
|
NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu)
|
rs781414509
|
0.00001
|
NM_024301.5(FKRP):c.106G>T (p.Ala36Ser)
|
rs1412050261
|
0.00001
|
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser)
|
rs1184684815
|
0.00001
|
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu)
|
rs751586523
|
0.00001
|
NM_024301.5(FKRP):c.1167G>A (p.Glu389=)
|
rs771708277
|
0.00001
|
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val)
|
rs767570224
|
0.00001
|
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile)
|
rs1471167981
|
0.00001
|
NM_024301.5(FKRP):c.119G>A (p.Arg40His)
|
rs2054891509
|
0.00001
|
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser)
|
rs376989573
|
0.00001
|
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)
|
rs104894681
|
0.00001
|
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu)
|
rs886044542
|
0.00001
|
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)
|
rs747785577
|
0.00001
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
NM_024301.5(FKRP):c.1397G>A (p.Arg466His)
|
rs763422045
|
0.00001
|
NM_024301.5(FKRP):c.1418T>G (p.Phe473Cys)
|
rs752243337
|
0.00001
|
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)
|
rs1301397800
|
0.00001
|
NM_024301.5(FKRP):c.1436A>G (p.Glu479Gly)
|
rs1555739297
|
0.00001
|
NM_024301.5(FKRP):c.1477G>A (p.Gly493Arg)
|
rs763299165
|
0.00001
|
NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg)
|
rs373244438
|
0.00001
|
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)
|
rs104894682
|
0.00001
|
NM_024301.5(FKRP):c.151G>A (p.Val51Ile)
|
rs769377092
|
0.00001
|
NM_024301.5(FKRP):c.172G>A (p.Ala58Thr)
|
rs751506122
|
0.00001
|
NM_024301.5(FKRP):c.178G>T (p.Asp60Tyr)
|
rs1311501368
|
0.00001
|
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)
|
rs990847012
|
0.00001
|
NM_024301.5(FKRP):c.298C>T (p.Arg100Cys)
|
rs1244445645
|
0.00001
|
NM_024301.5(FKRP):c.299G>A (p.Arg100His)
|
rs1174581828
|
0.00001
|
NM_024301.5(FKRP):c.315G>T (p.Gln105His)
|
rs765444642
|
0.00001
|
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)
|
rs1164727838
|
0.00001
|
NM_024301.5(FKRP):c.32C>T (p.Ala11Val)
|
rs760295001
|
0.00001
|
NM_024301.5(FKRP):c.379G>A (p.Ala127Thr)
|
rs1060502106
|
0.00001
|
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp)
|
rs398124392
|
0.00001
|
NM_024301.5(FKRP):c.442C>A (p.Leu148Ile)
|
rs1599935206
|
0.00001
|
NM_024301.5(FKRP):c.4C>T (p.Arg2Trp)
|
rs748272589
|
0.00001
|
NM_024301.5(FKRP):c.517G>A (p.Val173Ile)
|
rs1322879846
|
0.00001
|
NM_024301.5(FKRP):c.544T>C (p.Tyr182His)
|
rs753390261
|
0.00001
|
NM_024301.5(FKRP):c.551C>T (p.Ala184Val)
|
rs1489408026
|
0.00001
|
NM_024301.5(FKRP):c.557C>T (p.Pro186Leu)
|
rs745619101
|
0.00001
|
NM_024301.5(FKRP):c.582G>A (p.Leu194=)
|
rs771223960
|
0.00001
|
NM_024301.5(FKRP):c.677C>A (p.Thr226Asn)
|
rs772380755
|
0.00001
|
NM_024301.5(FKRP):c.706C>G (p.Leu236Val)
|
rs754347622
|
0.00001
|
NM_024301.5(FKRP):c.794G>T (p.Arg265Leu)
|
rs1320991574
|
0.00001
|
NM_024301.5(FKRP):c.809G>A (p.Arg270His)
|
rs1025118379
|
0.00001
|
NM_024301.5(FKRP):c.82C>G (p.Gln28Glu)
|
rs1060502110
|
0.00001
|
NM_024301.5(FKRP):c.851T>C (p.Leu284Pro)
|
rs1435780847
|
0.00001
|
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)
|
rs963039919
|
0.00001
|
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)
|
rs104894692
|
0.00001
|
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser)
|
rs28937901
|
0.00001
|
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)
|
rs752582904
|
0.00001
|
NM_024301.5(FKRP):c.959G>A (p.Arg320His)
|
rs1465811690
|
0.00001
|
NM_024301.5(FKRP):c.968G>A (p.Arg323His)
|
rs1349031936
|
0.00001
|
NM_024301.5(FKRP):c.970G>C (p.Glu324Gln)
|
rs886044183
|
0.00001
|
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)
|
rs1201873802
|
0.00001
|
NM_024301.5(FKRP):c.982_984del (p.Tyr328del)
|
rs886043458
|
0.00001
|
NM_024301.5(FKRP):c.9C>T (p.Leu3=)
|
rs756295058
|
0.00001
|
NM_001039885.2(FKRP):c.[74C>A(;)76_77del(;)826C>A]
|
|
|
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup)
|
rs1599938256
|
|
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu)
|
rs1173430388
|
|
NM_024301.5(FKRP):c.1016G>A (p.Arg339His)
|
rs1450841129
|
|
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter)
|
rs587780334
|
|
NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro)
|
rs753811189
|
|
NM_024301.5(FKRP):c.1051G>A (p.Ala351Thr)
|
rs982005875
|
|
NM_024301.5(FKRP):c.1056C>T (p.Arg352=)
|
rs886038682
|
|
NM_024301.5(FKRP):c.1078G>C (p.Asp360His)
|
rs770195088
|
|
NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)
|
|
|
NM_024301.5(FKRP):c.1119del (p.Asn374fs)
|
rs1555739041
|
|
NM_024301.5(FKRP):c.1123T>A (p.Cys375Ser)
|
rs763940706
|
|
NM_024301.5(FKRP):c.1130A>G (p.Gln377Arg)
|
rs2122631661
|
|
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro)
|
rs140217866
|
|
NM_024301.5(FKRP):c.1141dup (p.Ala381fs)
|
rs754403441
|
|
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs)
|
rs748087383
|
|
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys)
|
rs1230638385
|
|
NM_024301.5(FKRP):c.1201G>A (p.Asp401Asn)
|
rs1555739117
|
|
NM_024301.5(FKRP):c.1208del (p.Phe403fs)
|
rs1555739119
|
|
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu)
|
rs201497063
|
|
NM_024301.5(FKRP):c.1267del (p.Arg423fs)
|
rs886044083
|
|
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys)
|
rs1555738085
|
|
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)
|
rs1599939853
|
|
NM_024301.5(FKRP):c.1306_1307dup (p.Gln437fs)
|
|
|
NM_024301.5(FKRP):c.1307G>A (p.Arg436Gln)
|
rs764311774
|
|
NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)
|
|
|
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)
|
rs28937903
|
|
NM_024301.5(FKRP):c.1364C>T (p.Ala455Val)
|
rs28937903
|
|
NM_024301.5(FKRP):c.1368C>T (p.Gly456=)
|
rs1599940206
|
|
NM_024301.5(FKRP):c.13C>T (p.Arg5Cys)
|
rs1060502108
|
|
NM_024301.5(FKRP):c.1415del (p.Lys472fs)
|
rs1555739280
|
|
NM_024301.5(FKRP):c.1429G>A (p.Val477Ile)
|
rs1424035060
|
|
NM_024301.5(FKRP):c.1466T>G (p.Leu489Arg)
|
rs1555739321
|
|
NM_024301.5(FKRP):c.1475del (p.Thr492fs)
|
rs1555739333
|
|
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs)
|
rs1290836394
|
|
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)
|
rs28937905
|
|
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)
|
rs886042506
|
|
NM_024301.5(FKRP):c.168C>T (p.Phe56=)
|
rs1443120812
|
|
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys)
|
rs773024545
|
|
NM_024301.5(FKRP):c.170_186dup (p.Val63fs)
|
rs1555738149
|
|
NM_024301.5(FKRP):c.185C>T (p.Ala62Val)
|
rs1448177835
|
|
NM_024301.5(FKRP):c.19C>T (p.Gln7Ter)
|
|
|
NM_024301.5(FKRP):c.206_208del (p.Ser69del)
|
rs2054893955
|
|
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter)
|
rs1555738201
|
|
NM_024301.5(FKRP):c.230_234dup (p.Val79fs)
|
rs1555738204
|
|
NM_024301.5(FKRP):c.236TGG[2] (p.Val81del)
|
rs2054894857
|
|
NM_024301.5(FKRP):c.267delinsAT (p.Pro90fs)
|
rs1555738245
|
|
NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup)
|
rs1220815256
|
|
NM_024301.5(FKRP):c.282C>T (p.Pro94=)
|
rs1267805674
|
|
NM_024301.5(FKRP):c.305C>A (p.Ala102Glu)
|
rs1473327480
|
|
NM_024301.5(FKRP):c.319G>T (p.Ala107Ser)
|
rs750679682
|
|
NM_024301.5(FKRP):c.345_349del (p.Arg116fs)
|
rs1555738311
|
|
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr)
|
rs768376273
|
|
NM_024301.5(FKRP):c.387_390dup (p.Asp131delinsThrTer)
|
rs587777823
|
|
NM_024301.5(FKRP):c.394G>C (p.Gly132Arg)
|
rs900304726
|
|
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp)
|
rs104894690
|
|
NM_024301.5(FKRP):c.464del (p.Leu155fs)
|
rs1555738456
|
|
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)
|
rs727502842
|
|
NM_024301.5(FKRP):c.491A>G (p.Asn164Ser)
|
rs1008630400
|
|
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg)
|
rs1555738483
|
|
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr)
|
rs554813030
|
|
NM_024301.5(FKRP):c.526C>G (p.Arg176Gly)
|
|
|
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)
|
rs1555738502
|
|
NM_024301.5(FKRP):c.527G>A (p.Arg176Gln)
|
rs755316345
|
|
NM_024301.5(FKRP):c.541C>T (p.Arg181Cys)
|
rs777245868
|
|
NM_024301.5(FKRP):c.545A>C (p.Tyr182Ser)
|
rs543163491
|
|
NM_024301.5(FKRP):c.558C>A (p.Pro186=)
|
rs1266858563
|
|
NM_024301.5(FKRP):c.558CGC[3] (p.Ala188dup)
|
rs1555738552
|
|
NM_024301.5(FKRP):c.558dup (p.Ala187fs)
|
rs1191737604
|
|
NM_024301.5(FKRP):c.561C>G (p.Ala187=)
|
rs771770302
|
|
NM_024301.5(FKRP):c.566_570dup (p.Cys191fs)
|
rs1555738568
|
|
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)
|
rs759875552
|
|
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg)
|
rs759875552
|
|
NM_024301.5(FKRP):c.587G>A (p.Gly196Glu)
|
|
|
NM_024301.5(FKRP):c.616G>A (p.Asp206Asn)
|
rs1037585549
|
|
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)
|
rs2054912295
|
|
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser)
|
rs878855080
|
|
NM_024301.5(FKRP):c.656del (p.Gly219fs)
|
rs1555738651
|
|
NM_024301.5(FKRP):c.675del (p.Thr226fs)
|
rs886043706
|
|
NM_024301.5(FKRP):c.686del (p.Arg229fs)
|
rs1555738686
|
|
NM_024301.5(FKRP):c.688_722del (p.Gly230fs)
|
rs1555738675
|
|
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys)
|
rs2122621481
|
|
NM_024301.5(FKRP):c.696G>T (p.Ala232=)
|
rs398124394
|
|
NM_024301.5(FKRP):c.708G>A (p.Leu236=)
|
rs886038683
|
|
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr)
|
rs757955092
|
|
NM_024301.5(FKRP):c.750G>A (p.Thr250=)
|
rs1390038437
|
|
NM_024301.5(FKRP):c.763T>A (p.Trp255Arg)
|
rs2054916842
|
|
NM_024301.5(FKRP):c.764G>A (p.Trp255Ter)
|
rs104894689
|
|
NM_024301.5(FKRP):c.777C>T (p.Arg259=)
|
rs766086486
|
|
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)
|
rs1555738753
|
|
NM_024301.5(FKRP):c.77G>A (p.Trp26Ter)
|
rs752731569
|
|
NM_024301.5(FKRP):c.780G>C (p.Glu260Asp)
|
rs1414659732
|
|
NM_024301.5(FKRP):c.796del (p.Ala266fs)
|
rs1555738764
|
|
NM_024301.5(FKRP):c.835T>C (p.Trp279Arg)
|
rs2054919937
|
|
NM_024301.5(FKRP):c.838G>A (p.Glu280Lys)
|
rs2054920081
|
|
NM_024301.5(FKRP):c.83A>G (p.Gln28Arg)
|
rs756205019
|
|
NM_024301.5(FKRP):c.849G>A (p.Arg283=)
|
rs2054920441
|
|
NM_024301.5(FKRP):c.859_869del (p.Phe287fs)
|
rs1555738823
|
|
NM_024301.5(FKRP):c.881C>A (p.Thr294Lys)
|
rs1333089122
|
|
NM_024301.5(FKRP):c.928G>C (p.Glu310Gln)
|
rs765885747
|
|
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)
|
rs765885747
|
|
NM_024301.5(FKRP):c.931G>T (p.Glu311Ter)
|
rs1483781400
|
|
NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)
|
rs911700598
|
|
NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)
|
|
|
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)
|
rs398124395
|
|
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)
|
rs28937901
|
|
NM_024301.5(FKRP):c.946C>G (p.Pro316Ala)
|
rs28937901
|
|
NM_024301.5(FKRP):c.948del (p.Cys317fs)
|
rs748798133
|
|
NM_024301.5(FKRP):c.960_970del (p.Ala321fs)
|
rs1599937963
|
|
NM_024301.5(FKRP):c.963_964del (p.Leu322fs)
|
rs1555738883
|
|
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)
|
rs886044183
|
|
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly)
|
rs867877678
|
|