ClinVar Miner

List of variants in gene FKRP studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 972
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HGVS dbSNP gnomAD frequency
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.1440C>T (p.Asn480=) rs115365212 0.00213
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568 0.00179
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.1154C>T (p.Ser385Leu) rs104894680 0.00086
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.969C>T (p.Arg323=) rs532054402 0.00062
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812 0.00060
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.717C>T (p.Thr239=) rs762375285 0.00023
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.336C>T (p.Ala112=) rs1054339656 0.00015
NM_024301.5(FKRP):c.828A>G (p.Leu276=) rs745994685 0.00013
NM_024301.5(FKRP):c.654G>A (p.Val218=) rs749320485 0.00012
NM_024301.5(FKRP):c.954C>T (p.Cys318=) rs755968761 0.00012
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.1441C>G (p.Pro481Ala) rs745774108 0.00009
NM_024301.5(FKRP):c.813G>A (p.Ala271=) rs781205564 0.00009
NM_024301.5(FKRP):c.54T>A (p.Leu18=) rs565563742 0.00008
NM_024301.5(FKRP):c.1266C>G (p.Pro422=) rs374056230 0.00007
NM_024301.5(FKRP):c.360C>T (p.Tyr120=) rs781576638 0.00007
NM_024301.5(FKRP):c.1140G>A (p.Gly380=) rs552260353 0.00006
NM_024301.5(FKRP):c.1386T>G (p.Pro462=) rs776825755 0.00006
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.1011C>A (p.Gly337=) rs770149835 0.00005
NM_024301.5(FKRP):c.1253G>A (p.Trp418Ter) rs746533953 0.00005
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.210C>T (p.Phe70=) rs569336346 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.1377G>C (p.Ala459=) rs770845177 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.1171G>A (p.Gly391Ser) rs775201067 0.00003
NM_024301.5(FKRP):c.1320G>A (p.Glu440=) rs765678360 0.00003
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.435G>A (p.Val145=) rs1422884133 0.00003
NM_024301.5(FKRP):c.43A>C (p.Thr15Pro) rs886042998 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.795G>C (p.Arg265=) rs1364305668 0.00003
NM_024301.5(FKRP):c.797C>T (p.Ala266Val) rs1276654268 0.00003
NM_024301.5(FKRP):c.1008G>C (p.Ala336=) rs748542420 0.00002
NM_024301.5(FKRP):c.111G>A (p.Arg37=) rs746276490 0.00002
NM_024301.5(FKRP):c.1191G>A (p.Ala397=) rs752767486 0.00002
NM_024301.5(FKRP):c.1224C>T (p.Ser408=) rs779487099 0.00002
NM_024301.5(FKRP):c.1257C>T (p.Pro419=) rs1335867192 0.00002
NM_024301.5(FKRP):c.1291A>G (p.Thr431Ala) rs1060502112 0.00002
NM_024301.5(FKRP):c.1317G>A (p.Val439=) rs757615255 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024301.5(FKRP):c.187G>A (p.Val63Met) rs955514933 0.00002
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331 0.00002
NM_024301.5(FKRP):c.344C>T (p.Ser115Leu) rs752018916 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.573C>T (p.Cys191=) rs763156437 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.933G>A (p.Glu311=) rs911700598 0.00002
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp) rs1365712686 0.00002
NM_024301.5(FKRP):c.1012G>C (p.Val338Leu) rs1173430388 0.00001
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) rs1322997651 0.00001
NM_024301.5(FKRP):c.1032C>T (p.Gly344=) rs767312918 0.00001
NM_024301.5(FKRP):c.1034G>C (p.Gly345Ala) rs1249694833 0.00001
NM_024301.5(FKRP):c.1038A>G (p.Ser346=) rs757201268 0.00001
NM_024301.5(FKRP):c.1050C>T (p.Ala350=) rs1435046628 0.00001
NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys) rs751676482 0.00001
NM_024301.5(FKRP):c.1057C>T (p.His353Tyr) rs1468465064 0.00001
NM_024301.5(FKRP):c.1060G>A (p.Gly354Arg) rs565499116 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.1082A>C (p.Tyr361Ser) rs906664695 0.00001
NM_024301.5(FKRP):c.108C>T (p.Ala36=) rs757482530 0.00001
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser) rs1184684815 0.00001
NM_024301.5(FKRP):c.1134G>A (p.Leu378=) rs1303195847 0.00001
NM_024301.5(FKRP):c.1137G>T (p.Arg379=) rs761782258 0.00001
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu) rs751586523 0.00001
NM_024301.5(FKRP):c.1158G>C (p.Val386=) rs373719817 0.00001
NM_024301.5(FKRP):c.1160T>C (p.Val387Ala) rs779577195 0.00001
NM_024301.5(FKRP):c.1167G>A (p.Glu389=) rs771708277 0.00001
NM_024301.5(FKRP):c.1171G>C (p.Gly391Arg) rs775201067 0.00001
NM_024301.5(FKRP):c.1174T>A (p.Phe392Ile) rs1269819838 0.00001
NM_024301.5(FKRP):c.1176C>T (p.Phe392=) rs768236258 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.1197G>A (p.Glu399=) rs2054933742 0.00001
NM_024301.5(FKRP):c.119G>A (p.Arg40His) rs2054891509 0.00001
NM_024301.5(FKRP):c.125C>G (p.Ala42Gly) rs768215450 0.00001
NM_024301.5(FKRP):c.1261T>C (p.Tyr421His) rs1425956543 0.00001
NM_024301.5(FKRP):c.1263C>T (p.Tyr421=) rs138350337 0.00001
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter) rs772950604 0.00001
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser) rs376989573 0.00001
NM_024301.5(FKRP):c.1316T>A (p.Val439Glu) rs754002921 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.1344G>T (p.Pro448=) rs754446767 0.00001
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu) rs886044542 0.00001
NM_024301.5(FKRP):c.1362T>C (p.Phe454=) rs2054938348 0.00001
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) rs747785577 0.00001
NM_024301.5(FKRP):c.1383G>T (p.Ala461=) rs759585825 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.1426G>A (p.Gly476Arg) rs930285524 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.1449C>T (p.Tyr483=) rs772089991 0.00001
NM_024301.5(FKRP):c.1458G>A (p.Pro486=) rs762008480 0.00001
NM_024301.5(FKRP):c.1465C>T (p.Leu489=) rs112819526 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.186G>A (p.Ala62=) rs764225864 0.00001
NM_024301.5(FKRP):c.186G>T (p.Ala62=) rs764225864 0.00001
NM_024301.5(FKRP):c.18C>T (p.Cys6=) rs373388363 0.00001
NM_024301.5(FKRP):c.203A>C (p.Asp68Ala) rs779035324 0.00001
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) rs990847012 0.00001
NM_024301.5(FKRP):c.22G>A (p.Ala8Thr) rs1178928336 0.00001
NM_024301.5(FKRP):c.236T>C (p.Val79Ala) rs2054894918 0.00001
NM_024301.5(FKRP):c.240G>C (p.Val80=) rs769443891 0.00001
NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter) rs1057520771 0.00001
NM_024301.5(FKRP):c.273G>A (p.Leu91=) rs2054896422 0.00001
NM_024301.5(FKRP):c.274G>T (p.Ala92Ser) rs1232466626 0.00001
NM_024301.5(FKRP):c.283C>T (p.Arg95Cys) rs767399675 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.312C>T (p.Leu104=) rs1159432554 0.00001
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter) rs761821795 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.347G>T (p.Arg116Leu) rs1235772349 0.00001
NM_024301.5(FKRP):c.348C>G (p.Arg116=) rs995869558 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.466G>A (p.Val156Met) rs765402738 0.00001
NM_024301.5(FKRP):c.474C>G (p.Ala158=) rs963599756 0.00001
NM_024301.5(FKRP):c.486G>A (p.Thr162=) rs773481816 0.00001
NM_024301.5(FKRP):c.48C>T (p.Leu16=) rs776358648 0.00001
NM_024301.5(FKRP):c.493C>T (p.Pro165Ser) rs959475250 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.52C>T (p.Leu18Phe) rs1226848053 0.00001
NM_024301.5(FKRP):c.537C>G (p.Thr179=) rs756705086 0.00001
NM_024301.5(FKRP):c.540C>T (p.Ala180=) rs1269695339 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.576C>T (p.Asp192=) rs1366277135 0.00001
NM_024301.5(FKRP):c.582G>A (p.Leu194=) rs771223960 0.00001
NM_024301.5(FKRP):c.583G>T (p.Asp195Tyr) rs1289689195 0.00001
NM_024301.5(FKRP):c.59T>C (p.Val20Ala) rs750241299 0.00001
NM_024301.5(FKRP):c.603C>T (p.Leu201=) rs1340816162 0.00001
NM_024301.5(FKRP):c.610G>A (p.Ala204Thr) rs764621521 0.00001
NM_024301.5(FKRP):c.621C>T (p.Leu207=) rs1057522134 0.00001
NM_024301.5(FKRP):c.635C>T (p.Ala212Val) rs758125491 0.00001
NM_024301.5(FKRP):c.66C>T (p.Phe22=) rs995818740 0.00001
NM_024301.5(FKRP):c.677C>A (p.Thr226Asn) rs772380755 0.00001
NM_024301.5(FKRP):c.678C>G (p.Thr226=) rs1060504471 0.00001
NM_024301.5(FKRP):c.682C>T (p.Leu228Phe) rs886044590 0.00001
NM_024301.5(FKRP):c.699G>A (p.Val233=) rs764527541 0.00001
NM_024301.5(FKRP):c.69T>C (p.Tyr23=) rs954656663 0.00001
NM_024301.5(FKRP):c.703C>T (p.Leu235=) rs1428469954 0.00001
NM_024301.5(FKRP):c.706C>G (p.Leu236Val) rs754347622 0.00001
NM_024301.5(FKRP):c.738C>T (p.Pro246=) rs2054915819 0.00001
NM_024301.5(FKRP):c.741G>A (p.Pro247=) rs1488332243 0.00001
NM_024301.5(FKRP):c.744G>A (p.Leu248=) rs1200403758 0.00001
NM_024301.5(FKRP):c.753C>A (p.Ala251=) rs1317582201 0.00001
NM_024301.5(FKRP):c.761G>A (p.Arg254His) rs1395997291 0.00001
NM_024301.5(FKRP):c.77G>T (p.Trp26Leu) rs752731569 0.00001
NM_024301.5(FKRP):c.780G>A (p.Glu260=) rs1414659732 0.00001
NM_024301.5(FKRP):c.794G>T (p.Arg265Leu) rs1320991574 0.00001
NM_024301.5(FKRP):c.798G>A (p.Ala266=) rs1012811921 0.00001
NM_024301.5(FKRP):c.801G>A (p.Ala267=) rs1172407770 0.00001
NM_024301.5(FKRP):c.803T>G (p.Leu268Arg) rs886042921 0.00001
NM_024301.5(FKRP):c.809G>A (p.Arg270His) rs1025118379 0.00001
NM_024301.5(FKRP):c.825C>T (p.Arg275=) rs1457625449 0.00001
NM_024301.5(FKRP):c.82C>G (p.Gln28Glu) rs1060502110 0.00001
NM_024301.5(FKRP):c.845G>C (p.Gly282Ala) rs775795075 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.861C>T (p.Phe287=) rs1337312819 0.00001
NM_024301.5(FKRP):c.870C>T (p.Asn290=) rs1349056465 0.00001
NM_024301.5(FKRP):c.897C>T (p.Thr299=) rs1363012131 0.00001
NM_024301.5(FKRP):c.915C>G (p.Pro305=) rs1372543621 0.00001
NM_024301.5(FKRP):c.918C>T (p.Ala306=) rs1410653063 0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692 0.00001
NM_024301.5(FKRP):c.920A>G (p.Tyr307Cys) rs762546512 0.00001
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys) rs104894679 0.00001
NM_024301.5(FKRP):c.927C>T (p.Tyr309=) rs1356212665 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.962C>A (p.Ala321Glu) rs745882222 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.980G>A (p.Arg327His) rs747219711 0.00001
NM_024301.5(FKRP):c.982_984del (p.Tyr328del) rs886043458 0.00001
NM_024301.5(FKRP):c.984T>C (p.Tyr328=) rs1181528755 0.00001
NM_024301.5(FKRP):c.9C>T (p.Leu3=) rs756295058 0.00001
NC_000019.10:g.(?_46755431)_(46756958_?)del
NC_000019.10:g.(?_46755441)_(46756948_?)dup
NC_000019.9:g.(?_47255735)_(47259270_?)del
NC_000019.9:g.(?_47255735)_47259271del
NC_000019.9:g.(?_47257002)_(47259076_?)del
NC_000019.9:g.(?_47258698)_(47260205_?)del
NM_001039885.2(FKRP):c.[74C>A(;)76_77del(;)826C>A]
NM_024301.5(FKRP):c.-39-2934_564del
NM_024301.5(FKRP):c.1000G>A (p.Glu334Lys) rs2054926451
NM_024301.5(FKRP):c.1000G>T (p.Glu334Ter)
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup) rs1599938256
NM_024301.5(FKRP):c.1006G>A (p.Ala336Thr) rs2054926771
NM_024301.5(FKRP):c.1007C>T (p.Ala336Val) rs1555738924
NM_024301.5(FKRP):c.1008G>T (p.Ala336=) rs748542420
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu) rs1173430388
NM_024301.5(FKRP):c.1014G>C (p.Val338=) rs1405798829
NM_024301.5(FKRP):c.1015C>A (p.Arg339Ser) rs2122629515
NM_024301.5(FKRP):c.1015C>G (p.Arg339Gly)
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
NM_024301.5(FKRP):c.1016G>C (p.Arg339Pro)
NM_024301.5(FKRP):c.101C>T (p.Ser34Phe) rs1453156955
NM_024301.5(FKRP):c.1020C>G (p.Tyr340Ter)
NM_024301.5(FKRP):c.1022G>A (p.Trp341Ter)
NM_024301.5(FKRP):c.1026C>A (p.Leu342=) rs1382197287
NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln) rs587780334
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter) rs587780334
NM_024301.5(FKRP):c.1029G>A (p.Glu343=)
NM_024301.5(FKRP):c.1032C>A (p.Gly344=) rs767312918
NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro) rs753811189
NM_024301.5(FKRP):c.1038A>T (p.Ser346=)
NM_024301.5(FKRP):c.1039C>T (p.Leu347=) rs2122630246
NM_024301.5(FKRP):c.103C>T (p.Arg35Trp) rs1157545139
NM_024301.5(FKRP):c.1041G>A (p.Leu347=) rs1599938600
NM_024301.5(FKRP):c.1047G>A (p.Gly349=) rs1288093563
NM_024301.5(FKRP):c.104G>A (p.Arg35Gln) rs754088436
NM_024301.5(FKRP):c.1051G>A (p.Ala351Thr) rs982005875
NM_024301.5(FKRP):c.1055G>C (p.Arg352Pro)
NM_024301.5(FKRP):c.1056C>T (p.Arg352=) rs886038682
NM_024301.5(FKRP):c.1059C>T (p.His353=) rs894313503
NM_024301.5(FKRP):c.105G>C (p.Arg35=)
NM_024301.5(FKRP):c.1060G>C (p.Gly354Arg) rs565499116
NM_024301.5(FKRP):c.1062G>A (p.Gly354=)
NM_024301.5(FKRP):c.1065C>T (p.Asp355=) rs2122630697
NM_024301.5(FKRP):c.1067T>C (p.Ile356Thr)
NM_024301.5(FKRP):c.1075T>C (p.Trp359Arg) rs2054929484
NM_024301.5(FKRP):c.1075del (p.Trp359fs) rs2122630850
NM_024301.5(FKRP):c.1077G>A (p.Trp359Ter)
NM_024301.5(FKRP):c.1077_1078dup (p.Asp360fs) rs1568419860
NM_024301.5(FKRP):c.1078G>C (p.Asp360His) rs770195088
NM_024301.5(FKRP):c.1083C>A (p.Tyr361Ter) rs1060502109
NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter) rs1060502109
NM_024301.5(FKRP):c.1083C>T (p.Tyr361=)
NM_024301.5(FKRP):c.1086C>A (p.Asp362Glu) rs749787381
NM_024301.5(FKRP):c.1086C>T (p.Asp362=) rs749787381
NM_024301.5(FKRP):c.1087G>C (p.Val363Leu)
NM_024301.5(FKRP):c.1088T>C (p.Val363Ala) rs2054930160
NM_024301.5(FKRP):c.1092C>T (p.Asp364=)
NM_024301.5(FKRP):c.1098C>T (p.Gly366=)
NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)
NM_024301.5(FKRP):c.1100T>A (p.Ile367Asn)
NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr) rs1555739020
NM_024301.5(FKRP):c.1101C>T (p.Ile367=) rs1568419920
NM_024301.5(FKRP):c.1104C>A (p.Tyr368Ter)
NM_024301.5(FKRP):c.1107G>A (p.Leu369=)
NM_024301.5(FKRP):c.110G>A (p.Arg37Gln) rs779317138
NM_024301.5(FKRP):c.1113C>A (p.Asp371Glu) rs2054930576
NM_024301.5(FKRP):c.1114G>A (p.Val372Met)
NM_024301.5(FKRP):c.1115T>G (p.Val372Gly) rs771793862
NM_024301.5(FKRP):c.1117_1124del (p.Gly373fs)
NM_024301.5(FKRP):c.1118G>A (p.Gly373Asp) rs1413156584
NM_024301.5(FKRP):c.1119C>T (p.Gly373=)
NM_024301.5(FKRP):c.1119del (p.Asn374fs) rs1555739041
NM_024301.5(FKRP):c.1123T>A (p.Cys375Ser) rs763940706
NM_024301.5(FKRP):c.1125C>A (p.Cys375Ter)
NM_024301.5(FKRP):c.1129C>T (p.Gln377Ter)
NM_024301.5(FKRP):c.1130A>G (p.Gln377Arg) rs2122631661
NM_024301.5(FKRP):c.1130_1139del (p.Gln377fs)
NM_024301.5(FKRP):c.1131G>A (p.Gln377=) rs2122631741
NM_024301.5(FKRP):c.1132C>T (p.Leu378=) rs1458891749
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro) rs140217866
NM_024301.5(FKRP):c.113G>A (p.Gly38Glu) rs1599933942
NM_024301.5(FKRP):c.1140G>C (p.Gly380=) rs552260353
NM_024301.5(FKRP):c.1140G>T (p.Gly380=) rs552260353
NM_024301.5(FKRP):c.1141G>C (p.Ala381Pro) rs1031408738
NM_024301.5(FKRP):c.1141G>T (p.Ala381Ser) rs1031408738
NM_024301.5(FKRP):c.1141del (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1143A>C (p.Ala381=) rs2122632165
NM_024301.5(FKRP):c.1146G>A (p.Glu382=)
NM_024301.5(FKRP):c.1149C>T (p.Ala383=) rs1489899957
NM_024301.5(FKRP):c.114G>A (p.Gly38=) rs878855079
NM_024301.5(FKRP):c.114G>T (p.Gly38=) rs878855079
NM_024301.5(FKRP):c.1151G>C (p.Gly384Ala) rs2122632279
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) rs104894680
NM_024301.5(FKRP):c.1155G>A (p.Ser385=) rs369432328
NM_024301.5(FKRP):c.1155G>C (p.Ser385=)
NM_024301.5(FKRP):c.1155G>T (p.Ser385=)
NM_024301.5(FKRP):c.1158G>T (p.Val386=)
NM_024301.5(FKRP):c.115C>T (p.Pro39Ser) rs772667330
NM_024301.5(FKRP):c.1161G>A (p.Val387=)
NM_024301.5(FKRP):c.1164T>C (p.Asp388=) rs2122632580
NM_024301.5(FKRP):c.1168C>G (p.Arg390Gly) rs2122632676
NM_024301.5(FKRP):c.1168_1177dup (p.Val393fs)
NM_024301.5(FKRP):c.1170C>T (p.Arg390=)
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs) rs748087383
NM_024301.5(FKRP):c.1173C>T (p.Gly391=) rs1277189416
NM_024301.5(FKRP):c.1177G>C (p.Val393Leu) rs140679502
NM_024301.5(FKRP):c.1179A>C (p.Val393=)
NM_024301.5(FKRP):c.117C>G (p.Pro39=)
NM_024301.5(FKRP):c.117C>T (p.Pro39=)
NM_024301.5(FKRP):c.1181G>A (p.Trp394Ter)
NM_024301.5(FKRP):c.1181G>T (p.Trp394Leu)
NM_024301.5(FKRP):c.1183G>A (p.Glu395Lys) rs762944990
NM_024301.5(FKRP):c.1183G>C (p.Glu395Gln) rs762944990
NM_024301.5(FKRP):c.1187dup (p.Ala397fs) rs772020161
NM_024301.5(FKRP):c.118C>A (p.Arg40Ser)
NM_024301.5(FKRP):c.1191G>C (p.Ala397=) rs752767486
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys) rs1230638385
NM_024301.5(FKRP):c.1200C>T (p.Gly400=)
NM_024301.5(FKRP):c.1201G>A (p.Asp401Asn) rs1555739117
NM_024301.5(FKRP):c.1203C>T (p.Asp401=) rs2122633373
NM_024301.5(FKRP):c.1208del (p.Phe403fs) rs1555739119
NM_024301.5(FKRP):c.1208dup (p.Arg404fs)
NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)
NM_024301.5(FKRP):c.1211G>A (p.Arg404His) rs2054934225
NM_024301.5(FKRP):c.1213G>C (p.Val405Leu)
NM_024301.5(FKRP):c.1213G>T (p.Val405Leu) rs28937904
NM_024301.5(FKRP):c.1215G>T (p.Val405=)
NM_024301.5(FKRP):c.1216C>T (p.Gln406Ter)
NM_024301.5(FKRP):c.1217A>C (p.Gln406Pro)
NM_024301.5(FKRP):c.1218G>A (p.Gln406=) rs2122633702
NM_024301.5(FKRP):c.121C>A (p.Arg41Ser) rs2122609166
NM_024301.5(FKRP):c.1221C>G (p.Tyr407Ter)
NM_024301.5(FKRP):c.1221C>T (p.Tyr407=)
NM_024301.5(FKRP):c.122G>A (p.Arg41His) rs201497063
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu) rs201497063
NM_024301.5(FKRP):c.1233C>T (p.Asn411=) rs1451916862
NM_024301.5(FKRP):c.1234dup (p.His412fs) rs2122633849
NM_024301.5(FKRP):c.1236C>G (p.His412Gln) rs201076863
NM_024301.5(FKRP):c.1237T>C (p.Leu413=)
NM_024301.5(FKRP):c.1238del (p.Leu413fs) rs2054934925
NM_024301.5(FKRP):c.1240C>A (p.His414Asn) rs2054934982
NM_024301.5(FKRP):c.1242C>T (p.His414=) rs369599106
NM_024301.5(FKRP):c.1249C>T (p.Leu417=) rs2122634047
NM_024301.5(FKRP):c.1251G>A (p.Leu417=)
NM_024301.5(FKRP):c.1256_1257del (p.Pro419fs) rs886043959
NM_024301.5(FKRP):c.1267del (p.Arg423fs) rs886044083
NM_024301.5(FKRP):c.1268G>C (p.Arg423Pro) rs886042367
NM_024301.5(FKRP):c.1269C>A (p.Arg423=)
NM_024301.5(FKRP):c.126C>G (p.Ala42=) rs2122609298
NM_024301.5(FKRP):c.1272T>C (p.Asn424=) rs2054935900
NM_024301.5(FKRP):c.1275C>T (p.Gly425=)
NM_024301.5(FKRP):c.1282A>G (p.Thr428Ala) rs886042793
NM_024301.5(FKRP):c.1287G>A (p.Lys429=) rs2122634715
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.1299G>C (p.Leu433=) rs2054936601
NM_024301.5(FKRP):c.1301A>G (p.Asp434Gly)
NM_024301.5(FKRP):c.1305C>T (p.His435=) rs2122634906
NM_024301.5(FKRP):c.1306_1307dup (p.Gln437fs)
NM_024301.5(FKRP):c.1307G>A (p.Arg436Gln) rs764311774
NM_024301.5(FKRP):c.1309C>A (p.Gln437Lys) rs2054936900
NM_024301.5(FKRP):c.1310A>G (p.Gln437Arg) rs2122635070
NM_024301.5(FKRP):c.1312del (p.Asp438fs)
NM_024301.5(FKRP):c.1314T>C (p.Asp438=)
NM_024301.5(FKRP):c.1326C>T (p.Pro442=)
NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)
NM_024301.5(FKRP):c.1328A>G (p.Glu443Gly)
NM_024301.5(FKRP):c.1332C>T (p.His444=) rs2122635487
NM_024301.5(FKRP):c.1335_1336del (p.Leu446fs) rs1384878260
NM_024301.5(FKRP):c.1336C>T (p.Leu446=) rs1276709308
NM_024301.5(FKRP):c.1336del (p.Leu446fs)
NM_024301.5(FKRP):c.1338G>A (p.Leu446=) rs936735225
NM_024301.5(FKRP):c.1339C>T (p.Gln447Ter)
NM_024301.5(FKRP):c.1344G>A (p.Pro448=) rs754446767
NM_024301.5(FKRP):c.1344G>C (p.Pro448=) rs754446767
NM_024301.5(FKRP):c.1345C>T (p.Leu449=) rs2122635761
NM_024301.5(FKRP):c.1346T>C (p.Leu449Pro)
NM_024301.5(FKRP):c.1349T>C (p.Val450Ala)
NM_024301.5(FKRP):c.1353C>A (p.Pro451=)
NM_024301.5(FKRP):c.1353C>T (p.Pro451=)
NM_024301.5(FKRP):c.1354del (p.Leu452fs) rs2122635879
NM_024301.5(FKRP):c.1358C>T (p.Pro453Leu) rs1206095834
NM_024301.5(FKRP):c.135C>A (p.Ala45=) rs2287717
NM_024301.5(FKRP):c.135C>G (p.Ala45=) rs2287717
NM_024301.5(FKRP):c.1360T>C (p.Phe454Leu) rs2122636001
NM_024301.5(FKRP):c.1361T>C (p.Phe454Ser)
NM_024301.5(FKRP):c.1363G>A (p.Ala455Thr) rs747785577
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.1365C>G (p.Ala455=)
NM_024301.5(FKRP):c.1365C>T (p.Ala455=) rs2122636152
NM_024301.5(FKRP):c.1366G>A (p.Gly456Ser) rs2054938604
NM_024301.5(FKRP):c.1368C>T (p.Gly456=) rs1599940206
NM_024301.5(FKRP):c.1371C>G (p.Phe457Leu) rs1270459605
NM_024301.5(FKRP):c.1374G>A (p.Val458=)
NM_024301.5(FKRP):c.1377G>T (p.Ala459=) rs770845177
NM_024301.5(FKRP):c.1378C>T (p.Gln460Ter)
NM_024301.5(FKRP):c.1383G>A (p.Ala461=)
NM_024301.5(FKRP):c.1383G>C (p.Ala461=) rs759585825
NM_024301.5(FKRP):c.1385C>T (p.Pro462Leu)
NM_024301.5(FKRP):c.1386T>C (p.Pro462=) rs776825755
NM_024301.5(FKRP):c.1388A>G (p.Asn463Ser) rs2122636612
NM_024301.5(FKRP):c.1388A>T (p.Asn463Ile) rs2122636612
NM_024301.5(FKRP):c.1389C>A (p.Asn463Lys)
NM_024301.5(FKRP):c.1389C>T (p.Asn463=)
NM_024301.5(FKRP):c.138C>T (p.Gly46=)
NM_024301.5(FKRP):c.13C>T (p.Arg5Cys) rs1060502108
NM_024301.5(FKRP):c.1400G>A (p.Arg467His) rs766839420
NM_024301.5(FKRP):c.1404C>T (p.Phe468=)
NM_024301.5(FKRP):c.1411C>G (p.Leu471Val) rs2054940038
NM_024301.5(FKRP):c.1413C>A (p.Leu471=)
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024301.5(FKRP):c.1416G>A (p.Lys472=)
NM_024301.5(FKRP):c.1416G>T (p.Lys472Asn)
NM_024301.5(FKRP):c.1419C>T (p.Phe473=) rs868310782
NM_024301.5(FKRP):c.141C>A (p.Pro47=)
NM_024301.5(FKRP):c.1422G>A (p.Gly474=) rs1363063718
NM_024301.5(FKRP):c.1422G>T (p.Gly474=)
NM_024301.5(FKRP):c.1424C>T (p.Pro475Leu) rs1468526055
NM_024301.5(FKRP):c.1428G>T (p.Gly476=)
NM_024301.5(FKRP):c.1429G>A (p.Val477Ile) rs1424035060
NM_024301.5(FKRP):c.1429del (p.Val477fs)
NM_024301.5(FKRP):c.142C>A (p.Arg48Ser) rs2054892239
NM_024301.5(FKRP):c.142del (p.Arg48fs) rs1555738103
NM_024301.5(FKRP):c.142dup (p.Arg48fs)
NM_024301.5(FKRP):c.1432A>G (p.Ile478Val)
NM_024301.5(FKRP):c.1440C>G (p.Asn480Lys)
NM_024301.5(FKRP):c.1442C>A (p.Pro481His) rs727502844
NM_024301.5(FKRP):c.1443C>G (p.Pro481=)
NM_024301.5(FKRP):c.1443C>T (p.Pro481=) rs2054941502
NM_024301.5(FKRP):c.1444C>T (p.Gln482Ter)
NM_024301.5(FKRP):c.1444del (p.Gln482fs)
NM_024301.5(FKRP):c.1444dup (p.Gln482fs)
NM_024301.5(FKRP):c.1450C>A (p.Pro484Thr)
NM_024301.5(FKRP):c.1455C>T (p.Asn485=)
NM_024301.5(FKRP):c.1457C>T (p.Pro486Leu) rs2122637980
NM_024301.5(FKRP):c.1458G>C (p.Pro486=) rs762008480
NM_024301.5(FKRP):c.1461A>G (p.Ala487=) rs2122638048
NM_024301.5(FKRP):c.1466T>G (p.Leu489Arg) rs1555739321
NM_024301.5(FKRP):c.1468A>G (p.Ser490Gly)
NM_024301.5(FKRP):c.1475C>T (p.Thr492Met) rs1435800457
NM_024301.5(FKRP):c.1475del (p.Thr492fs) rs1555739333
NM_024301.5(FKRP):c.1478del (p.Gly493fs)
NM_024301.5(FKRP):c.1482C>T (p.Ser494=) rs373244438
NM_024301.5(FKRP):c.150C>T (p.Thr50=)
NM_024301.5(FKRP):c.151G>C (p.Val51Leu)
NM_024301.5(FKRP):c.151G>T (p.Val51Phe) rs769377092
NM_024301.5(FKRP):c.155T>C (p.Leu52Pro)
NM_024301.5(FKRP):c.157G>A (p.Val53Met)
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) rs1290836394
NM_024301.5(FKRP):c.159_160delinsTT (p.Arg54Trp)
NM_024301.5(FKRP):c.15C>A (p.Arg5=) rs1221940943
NM_024301.5(FKRP):c.160C>G (p.Arg54Gly)
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp) rs28937905
NM_024301.5(FKRP):c.161G>A (p.Arg54Gln) rs2122609879
NM_024301.5(FKRP):c.162G>A (p.Arg54=)
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.163G>A (p.Glu55Lys) rs2122609947
NM_024301.5(FKRP):c.163G>T (p.Glu55Ter)
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.16T>C (p.Cys6Arg) rs2122606907
NM_024301.5(FKRP):c.170_186dup (p.Val63fs) rs1555738149
NM_024301.5(FKRP):c.177T>C (p.Phe59=) rs2122610182
NM_024301.5(FKRP):c.178_199del (p.Phe59_Asp60insTer)
NM_024301.5(FKRP):c.180C>G (p.Asp60Glu)
NM_024301.5(FKRP):c.183C>G (p.Asn61Lys) rs759539583
NM_024301.5(FKRP):c.185C>T (p.Ala62Val) rs1448177835
NM_024301.5(FKRP):c.186G>C (p.Ala62=) rs764225864
NM_024301.5(FKRP):c.188T>C (p.Val63Ala) rs2122610495
NM_024301.5(FKRP):c.192C>G (p.Pro64=) rs111754012
NM_024301.5(FKRP):c.198G>A (p.Leu66=) rs2054893764
NM_024301.5(FKRP):c.19C>T (p.Gln7Ter)
NM_024301.5(FKRP):c.1A>C (p.Met1Leu) rs587777223
NM_024301.5(FKRP):c.1A>G (p.Met1Val) rs587777223
NM_024301.5(FKRP):c.201A>G (p.Val67=) rs2122610711
NM_024301.5(FKRP):c.205T>G (p.Ser69Ala)
NM_024301.5(FKRP):c.206C>T (p.Ser69Phe) rs1555738197
NM_024301.5(FKRP):c.206_208del (p.Ser69del) rs2054893955
NM_024301.5(FKRP):c.211C>A (p.Leu71Met)
NM_024301.5(FKRP):c.211C>T (p.Leu71=) rs2122610964
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter) rs1555738201
NM_024301.5(FKRP):c.216G>A (p.Gln72=)
NM_024301.5(FKRP):c.217C>T (p.Gln73Ter)
NM_024301.5(FKRP):c.218A>G (p.Gln73Arg) rs2122611023
NM_024301.5(FKRP):c.224del (p.Pro75fs) rs779619633
NM_024301.5(FKRP):c.225A>T (p.Pro75=)
NM_024301.5(FKRP):c.228C>A (p.Ala76=)
NM_024301.5(FKRP):c.228C>T (p.Ala76=) rs780639027
NM_024301.5(FKRP):c.230A>G (p.Gln77Arg) rs2122611366
NM_024301.5(FKRP):c.230_234del (p.Gln77fs)
NM_024301.5(FKRP):c.230_234dup (p.Val79fs) rs1555738204
NM_024301.5(FKRP):c.235G>C (p.Val79Leu) rs104894683
NM_024301.5(FKRP):c.236TGG[2] (p.Val81del) rs2054894857
NM_024301.5(FKRP):c.237G>A (p.Val79=)
NM_024301.5(FKRP):c.238G>A (p.Val80Met)
NM_024301.5(FKRP):c.240G>A (p.Val80=)
NM_024301.5(FKRP):c.245C>T (p.Ala82Val) rs966960260
NM_024301.5(FKRP):c.245del (p.Ala82fs)
NM_024301.5(FKRP):c.246A>T (p.Ala82=)
NM_024301.5(FKRP):c.251A>G (p.Asp84Gly) rs2122611834
NM_024301.5(FKRP):c.252C>T (p.Asp84=) rs1171443074
NM_024301.5(FKRP):c.255G>C (p.Thr85=) rs2054895437
NM_024301.5(FKRP):c.261_271del (p.Tyr88fs)
NM_024301.5(FKRP):c.261del (p.Tyr88fs)
NM_024301.5(FKRP):c.264C>T (p.Tyr88=) rs1057520771
NM_024301.5(FKRP):c.265C>G (p.Pro89Ala)
NM_024301.5(FKRP):c.265C>T (p.Pro89Ser)
NM_024301.5(FKRP):c.267G>A (p.Pro89=) rs774192252
NM_024301.5(FKRP):c.267G>T (p.Pro89=)
NM_024301.5(FKRP):c.267delinsAT (p.Pro90fs) rs1555738245
NM_024301.5(FKRP):c.26C>T (p.Ala9Val)
NM_024301.5(FKRP):c.270C>A (p.Pro90=) rs1276432637
NM_024301.5(FKRP):c.270C>T (p.Pro90=)
NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup) rs1220815256
NM_024301.5(FKRP):c.27C>T (p.Ala9=)
NM_024301.5(FKRP):c.280C>T (p.Pro94Ser)
NM_024301.5(FKRP):c.281C>A (p.Pro94His) rs925430989
NM_024301.5(FKRP):c.282C>G (p.Pro94=)
NM_024301.5(FKRP):c.282C>T (p.Pro94=) rs1267805674
NM_024301.5(FKRP):c.291C>T (p.Pro97=) rs1215872713
NM_024301.5(FKRP):c.292A>T (p.Asn98Tyr) rs1268536934
NM_024301.5(FKRP):c.293A>G (p.Asn98Ser)
NM_024301.5(FKRP):c.294C>T (p.Asn98=)
NM_024301.5(FKRP):c.295_299del (p.Val99fs)
NM_024301.5(FKRP):c.295del (p.Val99fs)
NM_024301.5(FKRP):c.299G>C (p.Arg100Pro) rs1174581828
NM_024301.5(FKRP):c.2T>C (p.Met1Thr)
NM_024301.5(FKRP):c.305C>A (p.Ala102Glu) rs1473327480
NM_024301.5(FKRP):c.30GGC[1] (p.Ala13del) rs2122607119
NM_024301.5(FKRP):c.312C>G (p.Leu104=)
NM_024301.5(FKRP):c.313C>G (p.Gln105Glu) rs761821795
NM_024301.5(FKRP):c.316_317insACGCCCTGGACCGGC (p.Gln105_Pro106insHisAlaLeuAspArg)
NM_024301.5(FKRP):c.318C>A (p.Pro106=)
NM_024301.5(FKRP):c.319G>T (p.Ala107Ser) rs750679682
NM_024301.5(FKRP):c.324G>A (p.Leu108=) rs2054898950
NM_024301.5(FKRP):c.329G>C (p.Arg110Pro)
NM_024301.5(FKRP):c.330G>T (p.Arg110=)
NM_024301.5(FKRP):c.333A>C (p.Pro111=) rs2122613470
NM_024301.5(FKRP):c.336C>G (p.Ala112=) rs1054339656
NM_024301.5(FKRP):c.337G>T (p.Ala113Ser)
NM_024301.5(FKRP):c.344C>G (p.Ser115Trp) rs752018916
NM_024301.5(FKRP):c.345G>A (p.Ser115=) rs1356142931
NM_024301.5(FKRP):c.345_349del (p.Arg116fs) rs1555738311
NM_024301.5(FKRP):c.346C>T (p.Arg116Cys)
NM_024301.5(FKRP):c.347G>A (p.Arg116His)
NM_024301.5(FKRP):c.349C>T (p.Pro117Ser)
NM_024301.5(FKRP):c.350C>G (p.Pro117Arg)
NM_024301.5(FKRP):c.350C>T (p.Pro117Leu)
NM_024301.5(FKRP):c.351G>A (p.Pro117=) rs1060504470
NM_024301.5(FKRP):c.352G>T (p.Glu118Ter)
NM_024301.5(FKRP):c.357C>G (p.Thr119=)
NM_024301.5(FKRP):c.363G>A (p.Val121=)
NM_024301.5(FKRP):c.364G>A (p.Ala122Thr) rs1060502111
NM_024301.5(FKRP):c.371A>G (p.Glu124Gly) rs1457269190
NM_024301.5(FKRP):c.372G>C (p.Glu124Asp)
NM_024301.5(FKRP):c.374T>C (p.Phe125Ser) rs886042355
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr) rs768376273
NM_024301.5(FKRP):c.385G>C (p.Val129Leu) rs747642602
NM_024301.5(FKRP):c.386T>A (p.Val129Glu) rs1599934959
NM_024301.5(FKRP):c.387A>G (p.Val129=)
NM_024301.5(FKRP):c.387_390dup (p.Asp131delinsThrTer) rs587777823
NM_024301.5(FKRP):c.390T>C (p.Pro130=) rs2122614420
NM_024301.5(FKRP):c.390T>G (p.Pro130=)
NM_024301.5(FKRP):c.394G>C (p.Gly132Arg) rs900304726
NM_024301.5(FKRP):c.395G>A (p.Gly132Glu) rs755588907
NM_024301.5(FKRP):c.396G>A (p.Gly132=)
NM_024301.5(FKRP):c.397G>T (p.Ala133Ser) rs1555738380
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp) rs104894690
NM_024301.5(FKRP):c.402_403del (p.Arg134_Ala135insTer) rs886041004
NM_024301.5(FKRP):c.403G>A (p.Ala135Thr)
NM_024301.5(FKRP):c.403G>T (p.Ala135Ser) rs748928675
NM_024301.5(FKRP):c.404C>T (p.Ala135Val)
NM_024301.5(FKRP):c.411A>C (p.Ala137=) rs2122614859
NM_024301.5(FKRP):c.413C>T (p.Pro138Leu)
NM_024301.5(FKRP):c.414T>C (p.Pro138=) rs2122614914
NM_024301.5(FKRP):c.420G>A (p.Leu140=) rs2122615035
NM_024301.5(FKRP):c.423G>C (p.Leu141=) rs2122615075
NM_024301.5(FKRP):c.427C>T (p.Arg143Cys) rs148206382
NM_024301.5(FKRP):c.428G>A (p.Arg143His)
NM_024301.5(FKRP):c.428G>C (p.Arg143Pro) rs1201804052
NM_024301.5(FKRP):c.428G>T (p.Arg143Leu)
NM_024301.5(FKRP):c.430A>G (p.Met144Val) rs1568418007
NM_024301.5(FKRP):c.431T>G (p.Met144Arg)
NM_024301.5(FKRP):c.433G>A (p.Val145Met) rs2054903007
NM_024301.5(FKRP):c.433_455del (p.Val145fs)
NM_024301.5(FKRP):c.438G>A (p.Glu146=) rs2122615356
NM_024301.5(FKRP):c.441G>A (p.Ala147=) rs1185093260
NM_024301.5(FKRP):c.441G>T (p.Ala147=) rs1185093260
NM_024301.5(FKRP):c.444C>T (p.Leu148=) rs1391808700
NM_024301.5(FKRP):c.447_451del (p.Ala150fs)
NM_024301.5(FKRP):c.448G>A (p.Ala150Thr)
NM_024301.5(FKRP):c.44C>T (p.Thr15Ile) rs2054889166
NM_024301.5(FKRP):c.452G>C (p.Gly151Ala) rs1171700980
NM_024301.5(FKRP):c.456C>T (p.Ser152=) rs199714523
NM_024301.5(FKRP):c.45C>G (p.Thr15=)
NM_024301.5(FKRP):c.45C>T (p.Thr15=)
NM_024301.5(FKRP):c.464del (p.Leu155fs) rs1555738456
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro) rs727502842
NM_024301.5(FKRP):c.470C>G (p.Ala157Gly) rs2122616000
NM_024301.5(FKRP):c.471C>A (p.Ala157=) rs1366423719
NM_024301.5(FKRP):c.471C>T (p.Ala157=) rs1366423719
NM_024301.5(FKRP):c.472G>A (p.Ala158Thr) rs2054905075
NM_024301.5(FKRP):c.474C>A (p.Ala158=)
NM_024301.5(FKRP):c.477G>A (p.Pro159=) rs1599935385
NM_024301.5(FKRP):c.477G>C (p.Pro159=)
NM_024301.5(FKRP):c.478G>T (p.Val160Phe) rs1314476567
NM_024301.5(FKRP):c.487G>A (p.Ala163Thr)
NM_024301.5(FKRP):c.488C>G (p.Ala163Gly) rs2122616447
NM_024301.5(FKRP):c.491A>G (p.Asn164Ser) rs1008630400
NM_024301.5(FKRP):c.497C>G (p.Ala166Gly)
NM_024301.5(FKRP):c.498C>T (p.Ala166=) rs763245394
NM_024301.5(FKRP):c.4C>A (p.Arg2=)
NM_024301.5(FKRP):c.501G>A (p.Arg167=) rs2054906317
NM_024301.5(FKRP):c.501_502delinsCC (p.Arg167_Cys168delinsSerArg) rs2122616718
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.511C>G (p.Leu171Val) rs766747690
NM_024301.5(FKRP):c.511C>T (p.Leu171=) rs766747690
NM_024301.5(FKRP):c.511_523del (p.Leu171fs) rs1314297056
NM_024301.5(FKRP):c.515dup (p.Asn172fs) rs2122617005
NM_024301.5(FKRP):c.516C>A (p.Asn172Lys)
NM_024301.5(FKRP):c.516C>T (p.Asn172=) rs970724879
NM_024301.5(FKRP):c.522C>T (p.Ser174=) rs1599935593
NM_024301.5(FKRP):c.525G>A (p.Leu175=) rs2054907207
NM_024301.5(FKRP):c.525G>T (p.Leu175=) rs2054907207
NM_024301.5(FKRP):c.526C>A (p.Arg176=) rs1555738502
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.529G>A (p.Glu177Lys) rs727502843
NM_024301.5(FKRP):c.536C>A (p.Thr179Asn) rs2122617585
NM_024301.5(FKRP):c.537C>T (p.Thr179=) rs756705086
NM_024301.5(FKRP):c.538G>T (p.Ala180Ser)
NM_024301.5(FKRP):c.539C>A (p.Ala180Asp) rs1555738521
NM_024301.5(FKRP):c.540_541delinsTA (p.Arg181Ser) rs1568418289
NM_024301.5(FKRP):c.540_570dup (p.Cys191fs) rs1311148380
NM_024301.5(FKRP):c.541C>T (p.Arg181Cys) rs777245868
NM_024301.5(FKRP):c.542_567del (p.Arg181fs)
NM_024301.5(FKRP):c.544del (p.Tyr182fs)
NM_024301.5(FKRP):c.545A>C (p.Tyr182Ser) rs543163491
NM_024301.5(FKRP):c.548G>A (p.Gly183Asp) rs2054908222
NM_024301.5(FKRP):c.549C>T (p.Gly183=) rs2122617954
NM_024301.5(FKRP):c.555C>A (p.Ala185=) rs1057523657
NM_024301.5(FKRP):c.555C>G (p.Ala185=) rs1057523657
NM_024301.5(FKRP):c.555C>T (p.Ala185=) rs1057523657
NM_024301.5(FKRP):c.558C>A (p.Pro186=) rs1266858563
NM_024301.5(FKRP):c.558C>G (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.559_560delinsAA (p.Ala187Asn) rs2122618398
NM_024301.5(FKRP):c.561C>A (p.Ala187=)
NM_024301.5(FKRP):c.561C>G (p.Ala187=) rs771770302
NM_024301.5(FKRP):c.561C>T (p.Ala187=) rs771770302
NM_024301.5(FKRP):c.566_570dup (p.Cys191fs) rs1555738568
NM_024301.5(FKRP):c.567C>G (p.Pro189=)
NM_024301.5(FKRP):c.568C>T (p.Arg190Cys) rs1437770795
NM_024301.5(FKRP):c.578C>T (p.Ala193Val) rs1815363870
NM_024301.5(FKRP):c.57G>A (p.Leu19=) rs2122607618
NM_024301.5(FKRP):c.582G>C (p.Leu194=) rs771223960
NM_024301.5(FKRP):c.582G>T (p.Leu194=)
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.587G>T (p.Gly196Val)
NM_024301.5(FKRP):c.588A>G (p.Gly196=) rs2122619043
NM_024301.5(FKRP):c.590A>T (p.Asp197Val)
NM_024301.5(FKRP):c.591T>C (p.Asp197=)
NM_024301.5(FKRP):c.592G>A (p.Ala198Thr) rs1222197114
NM_024301.5(FKRP):c.594T>G (p.Ala198=) rs753158217
NM_024301.5(FKRP):c.597G>A (p.Val199=)
NM_024301.5(FKRP):c.597G>T (p.Val199=) rs1360004383
NM_024301.5(FKRP):c.5G>A (p.Arg2Gln)
NM_024301.5(FKRP):c.5G>T (p.Arg2Leu) rs1308459613
NM_024301.5(FKRP):c.600G>A (p.Val200=) rs2054910281
NM_024301.5(FKRP):c.600G>T (p.Val200=) rs2054910281
NM_024301.5(FKRP):c.601C>T (p.Leu201Phe) rs1568418509
NM_024301.5(FKRP):c.605T>C (p.Leu202Pro)
NM_024301.5(FKRP):c.607C>T (p.Arg203Cys)
NM_024301.5(FKRP):c.608G>A (p.Arg203His) rs1568418540
NM_024301.5(FKRP):c.609C>T (p.Arg203=)
NM_024301.5(FKRP):c.60C>A (p.Val20=)
NM_024301.5(FKRP):c.60C>G (p.Val20=) rs1228553738
NM_024301.5(FKRP):c.60C>T (p.Val20=) rs1228553738
NM_024301.5(FKRP):c.613C>T (p.Arg205Cys) rs753297636
NM_024301.5(FKRP):c.615C>A (p.Arg205=)
NM_024301.5(FKRP):c.615C>G (p.Arg205=)
NM_024301.5(FKRP):c.616G>A (p.Asp206Asn) rs1037585549
NM_024301.5(FKRP):c.618C>T (p.Asp206=)
NM_024301.5(FKRP):c.621C>G (p.Leu207=)
NM_024301.5(FKRP):c.624C>T (p.Phe208=)
NM_024301.5(FKRP):c.628C>T (p.Leu210Phe) rs778472624
NM_024301.5(FKRP):c.632C>G (p.Ser211Trp)
NM_024301.5(FKRP):c.632del (p.Ser211fs)
NM_024301.5(FKRP):c.633G>C (p.Ser211=)
NM_024301.5(FKRP):c.638C>T (p.Pro213Leu)
NM_024301.5(FKRP):c.639C>G (p.Pro213=) rs746859953
NM_024301.5(FKRP):c.639C>T (p.Pro213=)
NM_024301.5(FKRP):c.63C>T (p.Leu21=)
NM_024301.5(FKRP):c.640C>G (p.Leu214Val) rs768674420
NM_024301.5(FKRP):c.641T>G (p.Leu214Arg) rs1380899496
NM_024301.5(FKRP):c.642G>C (p.Leu214=) rs2122620240
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp) rs2054912295
NM_024301.5(FKRP):c.647G>A (p.Arg216Gln) rs794727652
NM_024301.5(FKRP):c.648G>A (p.Arg216=) rs781297006
NM_024301.5(FKRP):c.649C>A (p.Pro217Thr) rs2122620422
NM_024301.5(FKRP):c.650dup (p.Val218fs) rs2122620454
NM_024301.5(FKRP):c.651G>A (p.Pro217=) rs1057522308
NM_024301.5(FKRP):c.651G>T (p.Pro217=) rs1057522308
NM_024301.5(FKRP):c.651_652dup (p.Val218fs)
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser) rs878855080
NM_024301.5(FKRP):c.656del (p.Gly219fs) rs1555738651
NM_024301.5(FKRP):c.661dup (p.Ser221fs) rs2122620867
NM_024301.5(FKRP):c.663C>A (p.Ser221Arg) rs28937902
NM_024301.5(FKRP):c.666C>G (p.Leu222=)
NM_024301.5(FKRP):c.666C>T (p.Leu222=) rs2122620960
NM_024301.5(FKRP):c.667T>G (p.Phe223Val) rs2054913534
NM_024301.5(FKRP):c.668_669del (p.Phe223fs)
NM_024301.5(FKRP):c.673C>A (p.Gln225Lys) rs1217634545
NM_024301.5(FKRP):c.674A>C (p.Gln225Pro)
NM_024301.5(FKRP):c.675del (p.Thr226fs) rs886043706
NM_024301.5(FKRP):c.678C>T (p.Thr226=)
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) rs775681117
NM_024301.5(FKRP):c.686del (p.Arg229fs) rs1555738686
NM_024301.5(FKRP):c.687C>T (p.Arg229=)
NM_024301.5(FKRP):c.688G>A (p.Gly230Ser) rs761054322
NM_024301.5(FKRP):c.688G>T (p.Gly230Cys)
NM_024301.5(FKRP):c.688_722del (p.Gly230fs) rs1555738675
NM_024301.5(FKRP):c.690C>T (p.Gly230=)
NM_024301.5(FKRP):c.692G>A (p.Trp231Ter)
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys) rs2122621481
NM_024301.5(FKRP):c.696G>A (p.Ala232=)
NM_024301.5(FKRP):c.696G>T (p.Ala232=) rs398124394
NM_024301.5(FKRP):c.699G>T (p.Val233=)
NM_024301.5(FKRP):c.702G>A (p.Gln234=)
NM_024301.5(FKRP):c.705G>C (p.Leu235=)
NM_024301.5(FKRP):c.706C>T (p.Leu236=)
NM_024301.5(FKRP):c.707T>C (p.Leu236Pro)
NM_024301.5(FKRP):c.708G>A (p.Leu236=) rs886038683
NM_024301.5(FKRP):c.712_713del (p.Leu238fs)
NM_024301.5(FKRP):c.714G>A (p.Leu238=)
NM_024301.5(FKRP):c.717C>G (p.Thr239=)
NM_024301.5(FKRP):c.718T>C (p.Phe240Leu) rs2122621908
NM_024301.5(FKRP):c.720C>T (p.Phe240=) rs2122621942
NM_024301.5(FKRP):c.722_791del (p.Ala241fs)
NM_024301.5(FKRP):c.723C>G (p.Ala241=)
NM_024301.5(FKRP):c.729G>A (p.Ala243=) rs794727651
NM_024301.5(FKRP):c.731G>T (p.Arg244Leu) rs764641619
NM_024301.5(FKRP):c.736C>A (p.Pro246Thr) rs1443171664
NM_024301.5(FKRP):c.736C>T (p.Pro246Ser)
NM_024301.5(FKRP):c.739C>A (p.Pro247Thr) rs1000823800
NM_024301.5(FKRP):c.740C>G (p.Pro247Arg) rs528000488
NM_024301.5(FKRP):c.741G>T (p.Pro247=)
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr) rs757955092
NM_024301.5(FKRP):c.748A>G (p.Thr250Ala)
NM_024301.5(FKRP):c.74_80del (p.Ser25fs)
NM_024301.5(FKRP):c.750G>A (p.Thr250=) rs1390038437
NM_024301.5(FKRP):c.750G>T (p.Thr250=) rs1390038437
NM_024301.5(FKRP):c.755A>T (p.His252Leu) rs2054916702
NM_024301.5(FKRP):c.756C>T (p.His252=)
NM_024301.5(FKRP):c.759G>T (p.Ala253=) rs2122622960
NM_024301.5(FKRP):c.75G>A (p.Ser25=) rs1555738032
NM_024301.5(FKRP):c.75G>C (p.Ser25=)
NM_024301.5(FKRP):c.75G>T (p.Ser25=) rs1555738032
NM_024301.5(FKRP):c.761_788dup (p.Ala263_Arg264insLeuGluGlyTer)
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.771T>A (p.Ala257=)
NM_024301.5(FKRP):c.771T>C (p.Ala257=)
NM_024301.5(FKRP):c.771T>G (p.Ala257=)
NM_024301.5(FKRP):c.774G>A (p.Glu258=)
NM_024301.5(FKRP):c.775C>T (p.Arg259Cys) rs1333568893
NM_024301.5(FKRP):c.777C>G (p.Arg259=)
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.779A>C (p.Glu260Ala) rs1394263062
NM_024301.5(FKRP):c.779_785del (p.Glu260fs) rs2122623346
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.781G>A (p.Gly261Arg)
NM_024301.5(FKRP):c.781G>C (p.Gly261Arg) rs561169991
NM_024301.5(FKRP):c.786C>T (p.Arg262=)
NM_024301.5(FKRP):c.788C>T (p.Ala263Val) rs2122623716
NM_024301.5(FKRP):c.789T>C (p.Ala263=)
NM_024301.5(FKRP):c.78G>A (p.Trp26Ter)
NM_024301.5(FKRP):c.790C>G (p.Arg264Gly)
NM_024301.5(FKRP):c.794G>A (p.Arg265Gln) rs1320991574
NM_024301.5(FKRP):c.795G>A (p.Arg265=)
NM_024301.5(FKRP):c.795_811del (p.Ala267fs)
NM_024301.5(FKRP):c.796del (p.Ala266fs) rs1555738764
NM_024301.5(FKRP):c.797dup (p.Ala267fs)
NM_024301.5(FKRP):c.79C>T (p.Leu27=) rs2122608181
NM_024301.5(FKRP):c.805C>T (p.Leu269Phe) rs2054918807
NM_024301.5(FKRP):c.807C>G (p.Leu269=)
NM_024301.5(FKRP):c.807C>T (p.Leu269=)
NM_024301.5(FKRP):c.810C>A (p.Arg270=) rs754829416
NM_024301.5(FKRP):c.810C>T (p.Arg270=)
NM_024301.5(FKRP):c.811G>A (p.Ala271Thr) rs1331506516
NM_024301.5(FKRP):c.813G>C (p.Ala271=)
NM_024301.5(FKRP):c.813G>T (p.Ala271=) rs781205564
NM_024301.5(FKRP):c.813_814dup (p.Leu272fs)
NM_024301.5(FKRP):c.819C>T (p.Gly273=) rs2122624397
NM_024301.5(FKRP):c.81_82delinsTT (p.Gln28Ter)
NM_024301.5(FKRP):c.820A>T (p.Ile274Phe) rs1060502107
NM_024301.5(FKRP):c.826C>T (p.Leu276=) rs28937900
NM_024301.5(FKRP):c.828del (p.Leu276_Val277insTer)
NM_024301.5(FKRP):c.832A>G (p.Ser278Gly)
NM_024301.5(FKRP):c.835T>C (p.Trp279Arg) rs2054919937
NM_024301.5(FKRP):c.835del (p.Trp279fs)
NM_024301.5(FKRP):c.835dup (p.Trp279fs)
NM_024301.5(FKRP):c.836G>C (p.Trp279Ser) rs1555738797
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.843C>T (p.Gly281=)
NM_024301.5(FKRP):c.844G>A (p.Gly282Arg) rs2054920195
NM_024301.5(FKRP):c.846G>C (p.Gly282=)
NM_024301.5(FKRP):c.847C>A (p.Arg283=) rs1325525979
NM_024301.5(FKRP):c.849G>A (p.Arg283=) rs2054920441
NM_024301.5(FKRP):c.852G>T (p.Leu284=)
NM_024301.5(FKRP):c.855G>A (p.Glu285=)
NM_024301.5(FKRP):c.857G>A (p.Trp286Ter)
NM_024301.5(FKRP):c.858G>A (p.Trp286Ter)
NM_024301.5(FKRP):c.859T>C (p.Phe287Leu) rs2054920778
NM_024301.5(FKRP):c.859_869del (p.Phe287fs) rs1555738823
NM_024301.5(FKRP):c.862G>A (p.Gly288Ser)
NM_024301.5(FKRP):c.862G>C (p.Gly288Arg)
NM_024301.5(FKRP):c.863G>T (p.Gly288Val)
NM_024301.5(FKRP):c.867C>T (p.Cys289=)
NM_024301.5(FKRP):c.86A>G (p.His29Arg)
NM_024301.5(FKRP):c.870C>A (p.Asn290Lys)
NM_024301.5(FKRP):c.877A>G (p.Thr293Ala) rs2122625896
NM_024301.5(FKRP):c.879C>A (p.Thr293=)
NM_024301.5(FKRP):c.879C>T (p.Thr293=)
NM_024301.5(FKRP):c.881C>A (p.Thr294Lys) rs1333089122
NM_024301.5(FKRP):c.882G>A (p.Thr294=)
NM_024301.5(FKRP):c.882G>C (p.Thr294=) rs2122625984
NM_024301.5(FKRP):c.882G>T (p.Thr294=)
NM_024301.5(FKRP):c.883C>G (p.Arg295Gly) rs2054921636
NM_024301.5(FKRP):c.884_885del (p.Arg295fs)
NM_024301.5(FKRP):c.885C>G (p.Arg295=)
NM_024301.5(FKRP):c.888C>T (p.Cys296=)
NM_024301.5(FKRP):c.88C>T (p.Gln30Ter)
NM_024301.5(FKRP):c.890T>G (p.Phe297Cys) rs2122626168
NM_024301.5(FKRP):c.891C>G (p.Phe297Leu) rs1473348553
NM_024301.5(FKRP):c.891C>T (p.Phe297=)
NM_024301.5(FKRP):c.892G>A (p.Gly298Arg) rs886043401
NM_024301.5(FKRP):c.892G>T (p.Gly298Ter) rs886043401
NM_024301.5(FKRP):c.897dup (p.Val300fs)
NM_024301.5(FKRP):c.899T>A (p.Val300Glu)
NM_024301.5(FKRP):c.900G>T (p.Val300=) rs2054922276
NM_024301.5(FKRP):c.906C>T (p.Gly302=) rs2122626586
NM_024301.5(FKRP):c.907G>A (p.Asp303Asn) rs765811792
NM_024301.5(FKRP):c.909C>T (p.Asp303=) rs2122626640
NM_024301.5(FKRP):c.90G>A (p.Gln30=)
NM_024301.5(FKRP):c.912G>A (p.Thr304=) rs1301337774
NM_024301.5(FKRP):c.913C>A (p.Pro305Thr) rs2122626729
NM_024301.5(FKRP):c.915C>A (p.Pro305=) rs1372543621
NM_024301.5(FKRP):c.915C>T (p.Pro305=) rs1372543621
NM_024301.5(FKRP):c.918C>G (p.Ala306=)
NM_024301.5(FKRP):c.919del (p.Tyr307fs) rs2122626858
NM_024301.5(FKRP):c.91C>T (p.Pro31Ser)
NM_024301.5(FKRP):c.927C>A (p.Tyr309Ter)
NM_024301.5(FKRP):c.928G>A (p.Glu310Lys)
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.930G>A (p.Glu310=)
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.935G>A (p.Arg312His)
NM_024301.5(FKRP):c.935G>C (p.Arg312Pro)
NM_024301.5(FKRP):c.935G>T (p.Arg312Leu) rs868138875
NM_024301.5(FKRP):c.936C>G (p.Arg312=)
NM_024301.5(FKRP):c.938G>A (p.Trp313Ter)
NM_024301.5(FKRP):c.940A>G (p.Thr314Ala)
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_024301.5(FKRP):c.942G>C (p.Thr314=)
NM_024301.5(FKRP):c.943C>G (p.Pro315Ala) rs1161657651
NM_024301.5(FKRP):c.945C>G (p.Pro315=) rs2122627518
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.947_948del (p.Pro316fs)
NM_024301.5(FKRP):c.947_948insA (p.Cys317fs) rs2122627673
NM_024301.5(FKRP):c.948C>A (p.Pro316=) rs945877846
NM_024301.5(FKRP):c.948C>T (p.Pro316=) rs945877846
NM_024301.5(FKRP):c.948del (p.Cys317fs) rs748798133
NM_024301.5(FKRP):c.949del (p.Cys317fs)
NM_024301.5(FKRP):c.950G>A (p.Cys317Tyr)
NM_024301.5(FKRP):c.951C>A (p.Cys317Ter)
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr) rs104894684
NM_024301.5(FKRP):c.955C>T (p.Leu319=) rs777792222
NM_024301.5(FKRP):c.957G>C (p.Leu319=)
NM_024301.5(FKRP):c.957G>T (p.Leu319=)
NM_024301.5(FKRP):c.960C>G (p.Arg320=)
NM_024301.5(FKRP):c.960C>T (p.Arg320=) rs2054924886
NM_024301.5(FKRP):c.960_970del (p.Ala321fs) rs1599937963
NM_024301.5(FKRP):c.961G>A (p.Ala321Thr)
NM_024301.5(FKRP):c.963G>A (p.Ala321=)
NM_024301.5(FKRP):c.963G>C (p.Ala321=) rs2054925068
NM_024301.5(FKRP):c.963_964del (p.Leu322fs) rs1555738883
NM_024301.5(FKRP):c.964C>G (p.Leu322Val) rs794727653
NM_024301.5(FKRP):c.969C>A (p.Arg323=) rs532054402
NM_024301.5(FKRP):c.969C>G (p.Arg323=)
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) rs886044183
NM_024301.5(FKRP):c.975C>G (p.Thr325=)
NM_024301.5(FKRP):c.976G>T (p.Ala326Ser) rs1201873802
NM_024301.5(FKRP):c.978C>A (p.Ala326=)
NM_024301.5(FKRP):c.978C>T (p.Ala326=)
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly) rs867877678
NM_024301.5(FKRP):c.979C>T (p.Arg327Cys)
NM_024301.5(FKRP):c.979dup (p.Arg327fs) rs2122628653
NM_024301.5(FKRP):c.97A>G (p.Asn33Asp)
NM_024301.5(FKRP):c.981C>T (p.Arg327=) rs2122628775
NM_024301.5(FKRP):c.983A>G (p.Tyr328Cys)
NM_024301.5(FKRP):c.984T>A (p.Tyr328Ter)
NM_024301.5(FKRP):c.984del (p.Arg327_Tyr328insTer)
NM_024301.5(FKRP):c.985G>A (p.Val329Met)
NM_024301.5(FKRP):c.987G>A (p.Val329=)
NM_024301.5(FKRP):c.987G>T (p.Val329=) rs2122628920
NM_024301.5(FKRP):c.990G>A (p.Val330=)
NM_024301.5(FKRP):c.994G>A (p.Val332Met) rs768917965
NM_024301.5(FKRP):c.996G>A (p.Val332=)
NM_024301.5(FKRP):c.998_1015del (p.Leu333_Val338del) rs2122628972
NM_024301.5(FKRP):c.9C>G (p.Leu3=) rs756295058

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