ClinVar Miner

List of variants reported as uncertain significance for Walker-Warburg congenital muscular dystrophy by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 612
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp) rs144236975 0.00031
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) rs776947530 0.00026
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln) rs140217866 0.00016
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441 0.00014
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618 0.00013
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_001079802.2(FKTN):c.1102T>C (p.Phe368Leu) rs374381691 0.00008
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304 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_001079802.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939 0.00005
NM_001079802.2(FKTN):c.822G>T (p.Arg274=) rs997235832 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.295G>A (p.Val99Met) rs776733780 0.00005
NM_001079802.2(FKTN):c.854C>T (p.Ala285Val) rs137951613 0.00004
NM_001079802.2(FKTN):c.877G>C (p.Val293Leu) rs146900302 0.00004
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) rs749109905 0.00004
NM_024301.5(FKRP):c.232C>T (p.Pro78Ser) rs747511445 0.00004
NM_024301.5(FKRP):c.569G>A (p.Arg190His) rs917645867 0.00004
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys) rs765934383 0.00003
NM_001079802.2(FKTN):c.124A>G (p.Lys42Glu) rs752663857 0.00003
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys) rs759936979 0.00003
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln) rs753641411 0.00003
NM_001079802.2(FKTN):c.247A>G (p.Ile83Val) rs757798867 0.00003
NM_001079802.2(FKTN):c.821G>A (p.Arg274Gln) rs767503045 0.00003
NM_024301.5(FKRP):c.1171G>A (p.Gly391Ser) rs775201067 0.00003
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile) rs369666163 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.797C>T (p.Ala266Val) rs1276654268 0.00003
NM_001079802.2(FKTN):c.1046T>C (p.Val349Ala) rs539089647 0.00002
NM_001079802.2(FKTN):c.1312C>T (p.Arg438Cys) rs150852885 0.00002
NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser) rs1429464723 0.00002
NM_001079802.2(FKTN):c.1333C>G (p.Pro445Ala) rs781465422 0.00002
NM_001079802.2(FKTN):c.14A>G (p.Asn5Ser) rs751473818 0.00002
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr) rs772840681 0.00002
NM_001079802.2(FKTN):c.575A>G (p.Lys192Arg) rs763737649 0.00002
NM_001079802.2(FKTN):c.733T>A (p.Ser245Thr) rs776945221 0.00002
NM_001079802.2(FKTN):c.787C>G (p.Leu263Val) rs770440134 0.00002
NM_024301.5(FKRP):c.1291A>G (p.Thr431Ala) rs1060502112 0.00002
NM_024301.5(FKRP):c.187G>A (p.Val63Met) rs955514933 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.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.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_001079802.2(FKTN):c.1009G>T (p.Asp337Tyr) rs752721354 0.00001
NM_001079802.2(FKTN):c.1010A>T (p.Asp337Val) rs760756067 0.00001
NM_001079802.2(FKTN):c.1022C>T (p.Pro341Leu) rs764441249 0.00001
NM_001079802.2(FKTN):c.1048G>A (p.Glu350Lys) rs750759323 0.00001
NM_001079802.2(FKTN):c.105+6T>G rs754468850 0.00001
NM_001079802.2(FKTN):c.1056C>G (p.Ser352Arg) rs149085844 0.00001
NM_001079802.2(FKTN):c.109G>A (p.Gly37Arg) rs773884973 0.00001
NM_001079802.2(FKTN):c.1107C>G (p.Phe369Leu) rs905981141 0.00001
NM_001079802.2(FKTN):c.1135A>G (p.Asn379Asp) rs1048088668 0.00001
NM_001079802.2(FKTN):c.1150G>A (p.Ala384Thr) rs1343750016 0.00001
NM_001079802.2(FKTN):c.1170C>A (p.Phe390Leu) rs1831570423 0.00001
NM_001079802.2(FKTN):c.1174T>C (p.Tyr392His) rs752191412 0.00001
NM_001079802.2(FKTN):c.1178T>C (p.Leu393Pro) rs374962879 0.00001
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser) rs727502849 0.00001
NM_001079802.2(FKTN):c.1184C>T (p.Pro395Leu) rs1201619662 0.00001
NM_001079802.2(FKTN):c.1186A>C (p.Lys396Gln) rs1477740717 0.00001
NM_001079802.2(FKTN):c.1268A>G (p.Tyr423Cys) rs938689811 0.00001
NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg) rs1833937117 0.00001
NM_001079802.2(FKTN):c.1298C>T (p.Thr433Met) rs201590151 0.00001
NM_001079802.2(FKTN):c.12C>G (p.Ile4Met) rs1389073650 0.00001
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs) rs775366895 0.00001
NM_001079802.2(FKTN):c.138C>A (p.Ser46Arg) rs1826853440 0.00001
NM_001079802.2(FKTN):c.13A>G (p.Asn5Asp) rs765929865 0.00001
NM_001079802.2(FKTN):c.143T>C (p.Ile48Thr) rs886044478 0.00001
NM_001079802.2(FKTN):c.154A>G (p.Ser52Gly) rs1064796459 0.00001
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319 0.00001
NM_001079802.2(FKTN):c.292A>G (p.Thr98Ala) rs758798692 0.00001
NM_001079802.2(FKTN):c.296C>T (p.Ser99Leu) rs768260007 0.00001
NM_001079802.2(FKTN):c.305A>G (p.Lys102Arg) rs757253023 0.00001
NM_001079802.2(FKTN):c.34C>G (p.Leu12Val) rs939985733 0.00001
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys) rs150591365 0.00001
NM_001079802.2(FKTN):c.382C>T (p.Arg128Trp) rs767026996 0.00001
NM_001079802.2(FKTN):c.389C>T (p.Ala130Val) rs752196884 0.00001
NM_001079802.2(FKTN):c.436C>T (p.Arg146Trp) rs1208639233 0.00001
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690 0.00001
NM_001079802.2(FKTN):c.508G>A (p.Ala170Thr) rs778818366 0.00001
NM_001079802.2(FKTN):c.516C>G (p.His172Gln) rs1436386821 0.00001
NM_001079802.2(FKTN):c.526T>G (p.Phe176Val) rs746813994 0.00001
NM_001079802.2(FKTN):c.545A>G (p.Asn182Ser) rs760170065 0.00001
NM_001079802.2(FKTN):c.556C>T (p.His186Tyr) rs767961629 0.00001
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499 0.00001
NM_001079802.2(FKTN):c.584T>C (p.Ile195Thr) rs753503050 0.00001
NM_001079802.2(FKTN):c.643G>C (p.Asp215His) rs745975808 0.00001
NM_001079802.2(FKTN):c.647+4A>G rs1828505595 0.00001
NM_001079802.2(FKTN):c.685G>A (p.Val229Ile) rs772111890 0.00001
NM_001079802.2(FKTN):c.6T>G (p.Ser2Arg) rs1350049256 0.00001
NM_001079802.2(FKTN):c.706A>G (p.Met236Val) rs886042241 0.00001
NM_001079802.2(FKTN):c.707T>G (p.Met236Arg) rs769033293 0.00001
NM_001079802.2(FKTN):c.755A>T (p.Tyr252Phe) rs574626895 0.00001
NM_001079802.2(FKTN):c.793G>C (p.Asp265His) rs1372525892 0.00001
NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly) rs1037406947 0.00001
NM_001079802.2(FKTN):c.802G>T (p.Val268Leu) rs878854165 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001079802.2(FKTN):c.895A>C (p.Ser299Arg) rs367662190 0.00001
NM_001079802.2(FKTN):c.910+4A>C rs1830640350 0.00001
NM_001079802.2(FKTN):c.92A>G (p.Tyr31Cys) rs533603648 0.00001
NM_001079802.2(FKTN):c.972A>G (p.Ile324Met) rs769691253 0.00001
NM_001079802.2(FKTN):c.989A>G (p.Asp330Gly) rs1414568181 0.00001
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) rs1322997651 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.1117G>A (p.Gly373Ser) rs1184684815 0.00001
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu) rs751586523 0.00001
NM_024301.5(FKRP):c.1160T>C (p.Val387Ala) rs779577195 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.1190C>T (p.Ala397Val) rs767570224 0.00001
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile) rs1471167981 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.1271A>G (p.Asn424Ser) rs376989573 0.00001
NM_024301.5(FKRP):c.1316T>A (p.Val439Glu) rs754002921 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.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.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.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.203A>C (p.Asp68Ala) rs779035324 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.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.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.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.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.551C>T (p.Ala184Val) rs1489408026 0.00001
NM_024301.5(FKRP):c.557C>T (p.Pro186Leu) rs745619101 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.610G>A (p.Ala204Thr) rs764621521 0.00001
NM_024301.5(FKRP):c.635C>T (p.Ala212Val) rs758125491 0.00001
NM_024301.5(FKRP):c.677C>A (p.Thr226Asn) rs772380755 0.00001
NM_024301.5(FKRP):c.682C>T (p.Leu228Phe) rs886044590 0.00001
NM_024301.5(FKRP):c.706C>G (p.Leu236Val) rs754347622 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.794G>T (p.Arg265Leu) rs1320991574 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.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.959G>A (p.Arg320His) rs1465811690 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
NC_000009.11:g.(?_107546596)_(108536361_?)dup
NC_000009.11:g.(?_108337304)_(108358948_?)dup
NC_000009.11:g.(?_108358859)_(108510491_?)dup
NC_000009.11:g.(?_108397312)_(108397545_?)del
NC_000009.12:g.(?_105575023)_(105635274_?)dup
NC_000019.10:g.(?_46605817)_(46756948_?)dup
NC_000019.10:g.(?_46755441)_(46756948_?)dup
NM_001079802.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
NM_001079802.2(FKTN):c.1033A>G (p.Lys345Glu) rs2133163596
NM_001079802.2(FKTN):c.1045G>A (p.Val349Ile) rs1831549660
NM_001079802.2(FKTN):c.1045G>C (p.Val349Leu) rs1831549660
NM_001079802.2(FKTN):c.1048_1065del (p.Glu350_Leu355del) rs2133209581
NM_001079802.2(FKTN):c.1055G>A (p.Ser352Asn)
NM_001079802.2(FKTN):c.105G>A (p.Lys35=) rs751029878
NM_001079802.2(FKTN):c.1082A>C (p.Asp361Ala)
NM_001079802.2(FKTN):c.1086T>A (p.Asp362Glu) rs1588221689
NM_001079802.2(FKTN):c.1088T>G (p.Val363Gly) rs1362238936
NM_001079802.2(FKTN):c.10A>C (p.Ile4Leu) rs757900916
NM_001079802.2(FKTN):c.1104T>A (p.Phe368Leu) rs1831558425
NM_001079802.2(FKTN):c.1119A>C (p.Glu373Asp) rs371776972
NM_001079802.2(FKTN):c.1119A>T (p.Glu373Asp) rs371776972
NM_001079802.2(FKTN):c.1129A>G (p.Met377Val) rs1200757732
NM_001079802.2(FKTN):c.1149G>C (p.Gln383His)
NM_001079802.2(FKTN):c.1157C>T (p.Thr386Ile) rs1831566546
NM_001079802.2(FKTN):c.1162A>C (p.Lys388Gln) rs1831568665
NM_001079802.2(FKTN):c.1172+15A>G
NM_001079802.2(FKTN):c.1172+4T>C rs2133212082
NM_001079802.2(FKTN):c.1173-1G>C rs557699482
NM_001079802.2(FKTN):c.1173A>G (p.Lys391=) rs2133450404
NM_001079802.2(FKTN):c.1177C>A (p.Leu393Met) rs1249398294
NM_001079802.2(FKTN):c.1182T>G (p.Phe394Leu)
NM_001079802.2(FKTN):c.1196T>C (p.Leu399Pro) rs1833923288
NM_001079802.2(FKTN):c.11T>C (p.Ile4Thr)
NM_001079802.2(FKTN):c.1200C>G (p.Cys400Trp) rs2133450925
NM_001079802.2(FKTN):c.1201T>C (p.Trp401Arg)
NM_001079802.2(FKTN):c.1205C>T (p.Thr402Ile) rs371464705
NM_001079802.2(FKTN):c.1210T>G (p.Phe404Val) rs1833925629
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001079802.2(FKTN):c.1224G>C (p.Lys408Asn) rs200091271
NM_001079802.2(FKTN):c.1225_1236delinsTT (p.Val409fs) rs1833929015
NM_001079802.2(FKTN):c.1226T>C (p.Val409Ala)
NM_001079802.2(FKTN):c.1237T>C (p.Cys413Arg) rs138836248
NM_001079802.2(FKTN):c.1250A>T (p.Glu417Val) rs543684877
NM_001079802.2(FKTN):c.1255A>G (p.Ile419Val) rs2133451721
NM_001079802.2(FKTN):c.1256T>C (p.Ile419Thr)
NM_001079802.2(FKTN):c.1265A>G (p.Asn422Ser) rs1833935107
NM_001079802.2(FKTN):c.1267_1270dup (p.Gly424fs)
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_001079802.2(FKTN):c.1284G>T (p.Lys428Asn) rs938548521
NM_001079802.2(FKTN):c.1287del (p.Pro430fs) rs2133452242
NM_001079802.2(FKTN):c.1305C>G (p.Asp435Glu) rs1043227892
NM_001079802.2(FKTN):c.1313G>A (p.Arg438His)
NM_001079802.2(FKTN):c.1315T>C (p.Ser439Pro) rs758196050
NM_001079802.2(FKTN):c.1319C>T (p.Pro440Leu) rs1564357396
NM_001079802.2(FKTN):c.1349C>T (p.Pro450Leu)
NM_001079802.2(FKTN):c.1369G>A (p.Val457Ile) rs775183646
NM_001079802.2(FKTN):c.1371_1381dup (p.Tyr461fs) rs727502847
NM_001079802.2(FKTN):c.1372_1373dup (p.Gln459fs)
NM_001079802.2(FKTN):c.1379T>C (p.Leu460Ser) rs1833947279
NM_001079802.2(FKTN):c.1381T>A (p.Tyr461Asn) rs760285197
NM_001079802.2(FKTN):c.13A>C (p.Asn5His) rs765929865
NM_001079802.2(FKTN):c.142A>G (p.Ile48Val)
NM_001079802.2(FKTN):c.145G>A (p.Gly49Arg) rs2132595541
NM_001079802.2(FKTN):c.164G>T (p.Trp55Leu) rs1826858068
NM_001079802.2(FKTN):c.165+3A>G
NM_001079802.2(FKTN):c.166-3C>A
NM_001079802.2(FKTN):c.169G>T (p.Ala57Ser)
NM_001079802.2(FKTN):c.170C>G (p.Ala57Gly)
NM_001079802.2(FKTN):c.170C>T (p.Ala57Val) rs1554751104
NM_001079802.2(FKTN):c.175_180del (p.Lys59_Lys60del) rs1554751112
NM_001079802.2(FKTN):c.193A>G (p.Thr65Ala) rs762827229
NM_001079802.2(FKTN):c.194C>A (p.Thr65Lys) rs1238441242
NM_001079802.2(FKTN):c.194C>T (p.Thr65Ile)
NM_001079802.2(FKTN):c.196T>C (p.Ser66Pro) rs1827810710
NM_001079802.2(FKTN):c.208G>A (p.Val70Ile) rs1827814378
NM_001079802.2(FKTN):c.215T>A (p.Val72Glu) rs1827815560
NM_001079802.2(FKTN):c.21C>G (p.Asn7Lys) rs564632018
NM_001079802.2(FKTN):c.220C>A (p.Leu74Ile) rs1060501407
NM_001079802.2(FKTN):c.223A>G (p.Ile75Val) rs1827816995
NM_001079802.2(FKTN):c.224T>C (p.Ile75Thr) rs756178260
NM_001079802.2(FKTN):c.22G>A (p.Val8Met) rs368981218
NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro) rs371697266
NM_001079802.2(FKTN):c.251A>G (p.Asn84Ser)
NM_001079802.2(FKTN):c.257A>T (p.Asn86Ile) rs1295912375
NM_001079802.2(FKTN):c.25G>C (p.Val9Leu) rs145387221
NM_001079802.2(FKTN):c.262G>C (p.Glu88Gln)
NM_001079802.2(FKTN):c.278C>T (p.Thr93Ile)
NM_001079802.2(FKTN):c.281C>T (p.Ser94Phe)
NM_001079802.2(FKTN):c.283C>T (p.His95Tyr)
NM_001079802.2(FKTN):c.290C>G (p.Ser97Cys)
NM_001079802.2(FKTN):c.293C>T (p.Thr98Ile) rs376452959
NM_001079802.2(FKTN):c.299A>C (p.Gln100Pro) rs1827828109
NM_001079802.2(FKTN):c.29T>C (p.Leu10Ser) rs1587865923
NM_001079802.2(FKTN):c.301T>C (p.Cys101Arg) rs886044095
NM_001079802.2(FKTN):c.312C>A (p.Phe104Leu) rs2132707762
NM_001079802.2(FKTN):c.316G>T (p.Val106Phe)
NM_001079802.2(FKTN):c.319C>G (p.Pro107Ala) rs2132707901
NM_001079802.2(FKTN):c.322A>G (p.Arg108Gly) rs2132707988
NM_001079802.2(FKTN):c.328T>C (p.Phe110Leu) rs2132708103
NM_001079802.2(FKTN):c.350A>G (p.Tyr117Cys)
NM_001079802.2(FKTN):c.369+4A>G rs1588088864
NM_001079802.2(FKTN):c.369+5G>C rs2132709437
NM_001079802.2(FKTN):c.369+6T>G rs1554751423
NM_001079802.2(FKTN):c.374G>A (p.Gly125Asp) rs142783718
NM_001079802.2(FKTN):c.374G>C (p.Gly125Ala) rs142783718
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_001079802.2(FKTN):c.388G>A (p.Ala130Thr)
NM_001079802.2(FKTN):c.394A>G (p.Asn132Asp) rs2132791236
NM_001079802.2(FKTN):c.400G>A (p.Gly134Arg) rs1554752862
NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del) rs1176794033
NM_001079802.2(FKTN):c.401G>T (p.Gly134Val) rs2132791726
NM_001079802.2(FKTN):c.408G>C (p.Gln136His)
NM_001079802.2(FKTN):c.409T>A (p.Cys137Ser)
NM_001079802.2(FKTN):c.41C>G (p.Thr14Arg) rs149033995
NM_001079802.2(FKTN):c.425G>A (p.Ser142Asn) rs745597550
NM_001079802.2(FKTN):c.426T>G (p.Ser142Arg)
NM_001079802.2(FKTN):c.448A>G (p.Ile150Val) rs886044482
NM_001079802.2(FKTN):c.467C>A (p.Thr156Asn) rs1828456809
NM_001079802.2(FKTN):c.475C>G (p.Pro159Ala) rs755830677
NM_001079802.2(FKTN):c.479T>C (p.Leu160Pro)
NM_001079802.2(FKTN):c.481C>A (p.His161Asn) rs753338116
NM_001079802.2(FKTN):c.482A>G (p.His161Arg) rs727502848
NM_001079802.2(FKTN):c.488T>A (p.Ile163Asn) rs1828461999
NM_001079802.2(FKTN):c.489C>G (p.Ile163Met) rs980208971
NM_001079802.2(FKTN):c.499G>A (p.Ala167Thr) rs2132796265
NM_001079802.2(FKTN):c.49A>G (p.Ser17Gly)
NM_001079802.2(FKTN):c.505C>G (p.His169Asp) rs1243169303
NM_001079802.2(FKTN):c.509C>T (p.Ala170Val)
NM_001079802.2(FKTN):c.511A>T (p.Ile171Phe) rs1432918466
NM_001079802.2(FKTN):c.515A>T (p.His172Leu) rs758166890
NM_001079802.2(FKTN):c.520G>A (p.Val174Ile) rs749663903
NM_001079802.2(FKTN):c.530A>G (p.His177Arg) rs773322779
NM_001079802.2(FKTN):c.530A>T (p.His177Leu)
NM_001079802.2(FKTN):c.531T>A (p.His177Gln) rs534638144
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr) rs119463994
NM_001079802.2(FKTN):c.538A>T (p.Ser180Cys) rs2132798439
NM_001079802.2(FKTN):c.539G>T (p.Ser180Ile)
NM_001079802.2(FKTN):c.545A>C (p.Asn182Thr) rs760170065
NM_001079802.2(FKTN):c.547T>A (p.Tyr183Asn) rs1163774436
NM_001079802.2(FKTN):c.563A>G (p.His188Arg) rs1828484638
NM_001079802.2(FKTN):c.564C>G (p.His188Gln) rs1828485095
NM_001079802.2(FKTN):c.567G>C (p.Leu189Phe) rs988842962
NM_001079802.2(FKTN):c.569G>A (p.Arg190Lys) rs760967116
NM_001079802.2(FKTN):c.586G>T (p.Asp196Tyr) rs756748012
NM_001079802.2(FKTN):c.58T>G (p.Phe20Val) rs1554731003
NM_001079802.2(FKTN):c.617A>C (p.Gln206Pro)
NM_001079802.2(FKTN):c.619T>G (p.Phe207Val) rs1461669175
NM_001079802.2(FKTN):c.623G>A (p.Gly208Asp) rs778048703
NM_001079802.2(FKTN):c.623G>T (p.Gly208Val)
NM_001079802.2(FKTN):c.625C>T (p.Arg209Cys) rs749576551
NM_001079802.2(FKTN):c.626G>A (p.Arg209His) rs771109111
NM_001079802.2(FKTN):c.638C>T (p.Ala213Val) rs774612427
NM_001079802.2(FKTN):c.647+3A>G rs1828504981
NM_001079802.2(FKTN):c.647G>A (p.Arg216Lys) rs1828504500
NM_001079802.2(FKTN):c.647G>T (p.Arg216Met)
NM_001079802.2(FKTN):c.648-3C>T rs1430063746
NM_001079802.2(FKTN):c.653A>T (p.Glu218Val) rs978338266
NM_001079802.2(FKTN):c.659A>G (p.Gln220Arg)
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile) rs1293245717
NM_001079802.2(FKTN):c.667A>G (p.Thr223Ala)
NM_001079802.2(FKTN):c.675T>A (p.Asp225Glu)
NM_001079802.2(FKTN):c.677G>C (p.Gly226Ala) rs2132899059
NM_001079802.2(FKTN):c.67T>C (p.Phe23Leu) rs2132017664
NM_001079802.2(FKTN):c.69T>G (p.Phe23Leu)
NM_001079802.2(FKTN):c.711C>G (p.His237Gln) rs562170364
NM_001079802.2(FKTN):c.719AAG[1] (p.Glu241del) rs1437925297
NM_001079802.2(FKTN):c.727C>G (p.Pro243Ala) rs1564301303
NM_001079802.2(FKTN):c.730C>T (p.His244Tyr) rs1194640294
NM_001079802.2(FKTN):c.743T>C (p.Ile248Thr) rs2132900809
NM_001079802.2(FKTN):c.751A>G (p.Arg251Gly)
NM_001079802.2(FKTN):c.767G>A (p.Arg256Gln)
NM_001079802.2(FKTN):c.774C>G (p.Phe258Leu) rs1829205310
NM_001079802.2(FKTN):c.780G>A (p.Gln260=) rs1459814015
NM_001079802.2(FKTN):c.781-3T>A rs2133098515
NM_001079802.2(FKTN):c.784T>C (p.Tyr262His)
NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg) rs1564318575
NM_001079802.2(FKTN):c.794A>G (p.Asp265Gly) rs2133098941
NM_001079802.2(FKTN):c.835G>A (p.Glu279Lys)
NM_001079802.2(FKTN):c.836A>G (p.Glu279Gly)
NM_001079802.2(FKTN):c.83A>G (p.Tyr28Cys) rs374203636
NM_001079802.2(FKTN):c.841C>G (p.Leu281Val) rs199697041
NM_001079802.2(FKTN):c.877G>T (p.Val293Leu) rs146900302
NM_001079802.2(FKTN):c.884T>A (p.Phe295Tyr) rs1830635344
NM_001079802.2(FKTN):c.885C>G (p.Phe295Leu) rs1564319328
NM_001079802.2(FKTN):c.898G>A (p.Gly300Arg)
NM_001079802.2(FKTN):c.905G>A (p.Cys302Tyr) rs1554757939
NM_001079802.2(FKTN):c.911-13A>G rs766103012
NM_001079802.2(FKTN):c.917A>G (p.Tyr306Cys)
NM_001079802.2(FKTN):c.938C>T (p.Pro313Leu) rs1588204815
NM_001079802.2(FKTN):c.941A>G (p.Tyr314Cys) rs1451453111
NM_001079802.2(FKTN):c.952G>A (p.Val318Ile) rs141120187
NM_001079802.2(FKTN):c.961G>A (p.Gly321Arg) rs1831143790
NM_001079802.2(FKTN):c.964A>T (p.Ile322Phe)
NM_001079802.2(FKTN):c.975A>C (p.Gln325His) rs774410536
NM_001079802.2(FKTN):c.976G>A (p.Asp326Asn)
NM_001079802.2(FKTN):c.976G>T (p.Asp326Tyr)
NM_001079802.2(FKTN):c.980A>G (p.Tyr327Cys)
NM_001079802.2(FKTN):c.998T>C (p.Leu333Ser)
NM_024301.5(FKRP):c.1000G>A (p.Glu334Lys) rs2054926451
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.1015C>A (p.Arg339Ser) rs2122629515
NM_024301.5(FKRP):c.1015C>G (p.Arg339Gly)
NM_024301.5(FKRP):c.101C>T (p.Ser34Phe) rs1453156955
NM_024301.5(FKRP):c.103C>T (p.Arg35Trp) rs1157545139
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.1060G>C (p.Gly354Arg) rs565499116
NM_024301.5(FKRP):c.1075T>C (p.Trp359Arg) rs2054929484
NM_024301.5(FKRP):c.1086C>A (p.Asp362Glu) rs749787381
NM_024301.5(FKRP):c.1088T>C (p.Val363Ala) rs2054930160
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.1118G>A (p.Gly373Asp) rs1413156584
NM_024301.5(FKRP):c.1123T>A (p.Cys375Ser) rs763940706
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.1141G>C (p.Ala381Pro) rs1031408738
NM_024301.5(FKRP):c.1141G>T (p.Ala381Ser) rs1031408738
NM_024301.5(FKRP):c.1151G>C (p.Gly384Ala) rs2122632279
NM_024301.5(FKRP):c.115C>T (p.Pro39Ser) rs772667330
NM_024301.5(FKRP):c.1168C>G (p.Arg390Gly) rs2122632676
NM_024301.5(FKRP):c.1177G>C (p.Val393Leu) rs140679502
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.118C>A (p.Arg40Ser)
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.1211G>A (p.Arg404His) rs2054934225
NM_024301.5(FKRP):c.1217A>C (p.Gln406Pro)
NM_024301.5(FKRP):c.121C>A (p.Arg41Ser) rs2122609166
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.1236C>G (p.His412Gln) rs201076863
NM_024301.5(FKRP):c.1240C>A (p.His414Asn) rs2054934982
NM_024301.5(FKRP):c.1268G>C (p.Arg423Pro) rs886042367
NM_024301.5(FKRP):c.1282A>G (p.Thr428Ala) rs886042793
NM_024301.5(FKRP):c.1301A>G (p.Asp434Gly)
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.1328A>G (p.Glu443Gly)
NM_024301.5(FKRP):c.1346T>C (p.Leu449Pro)
NM_024301.5(FKRP):c.1349T>C (p.Val450Ala)
NM_024301.5(FKRP):c.1358C>T (p.Pro453Leu) rs1206095834
NM_024301.5(FKRP):c.1360T>C (p.Phe454Leu) rs2122636001
NM_024301.5(FKRP):c.1361T>C (p.Phe454Ser)
NM_024301.5(FKRP):c.1371C>G (p.Phe457Leu) rs1270459605
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.1411C>G (p.Leu471Val) rs2054940038
NM_024301.5(FKRP):c.1416G>T (p.Lys472Asn)
NM_024301.5(FKRP):c.1424C>T (p.Pro475Leu) rs1468526055
NM_024301.5(FKRP):c.1429G>A (p.Val477Ile) rs1424035060
NM_024301.5(FKRP):c.142C>A (p.Arg48Ser) rs2054892239
NM_024301.5(FKRP):c.1440C>G (p.Asn480Lys)
NM_024301.5(FKRP):c.1442C>A (p.Pro481His) rs727502844
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.1457C>T (p.Pro486Leu) rs2122637980
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.1478del (p.Gly493fs)
NM_024301.5(FKRP):c.151G>C (p.Val51Leu)
NM_024301.5(FKRP):c.157G>A (p.Val53Met)
NM_024301.5(FKRP):c.163G>A (p.Glu55Lys) rs2122609947
NM_024301.5(FKRP):c.16T>C (p.Cys6Arg) rs2122606907
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.188T>C (p.Val63Ala) rs2122610495
NM_024301.5(FKRP):c.205T>G (p.Ser69Ala)
NM_024301.5(FKRP):c.206C>T (p.Ser69Phe) rs1555738197
NM_024301.5(FKRP):c.211C>A (p.Leu71Met)
NM_024301.5(FKRP):c.218A>G (p.Gln73Arg) rs2122611023
NM_024301.5(FKRP):c.230A>G (p.Gln77Arg) rs2122611366
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.238G>A (p.Val80Met)
NM_024301.5(FKRP):c.245C>T (p.Ala82Val) rs966960260
NM_024301.5(FKRP):c.251A>G (p.Asp84Gly) rs2122611834
NM_024301.5(FKRP):c.26C>T (p.Ala9Val)
NM_024301.5(FKRP):c.280C>T (p.Pro94Ser)
NM_024301.5(FKRP):c.281C>A (p.Pro94His) rs925430989
NM_024301.5(FKRP):c.292A>T (p.Asn98Tyr) rs1268536934
NM_024301.5(FKRP):c.293A>G (p.Asn98Ser)
NM_024301.5(FKRP):c.299G>C (p.Arg100Pro) rs1174581828
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.313C>G (p.Gln105Glu) rs761821795
NM_024301.5(FKRP):c.316_317insACGCCCTGGACCGGC (p.Gln105_Pro106insHisAlaLeuAspArg)
NM_024301.5(FKRP):c.319G>T (p.Ala107Ser) rs750679682
NM_024301.5(FKRP):c.337G>T (p.Ala113Ser)
NM_024301.5(FKRP):c.344C>G (p.Ser115Trp) rs752018916
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>T (p.Pro117Leu)
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.394G>C (p.Gly132Arg) rs900304726
NM_024301.5(FKRP):c.395G>A (p.Gly132Glu) rs755588907
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.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.413C>T (p.Pro138Leu)
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.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.469G>C (p.Ala157Pro) rs727502842
NM_024301.5(FKRP):c.470C>G (p.Ala157Gly) rs2122616000
NM_024301.5(FKRP):c.472G>A (p.Ala158Thr) rs2054905075
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.501_502delinsCC (p.Arg167_Cys168delinsSerArg) rs2122616718
NM_024301.5(FKRP):c.511C>G (p.Leu171Val) rs766747690
NM_024301.5(FKRP):c.516C>A (p.Asn172Lys)
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.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.541C>T (p.Arg181Cys) rs777245868
NM_024301.5(FKRP):c.548G>A (p.Gly183Asp) rs2054908222
NM_024301.5(FKRP):c.559_560delinsAA (p.Ala187Asn) rs2122618398
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.586G>C (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.590A>T (p.Asp197Val)
NM_024301.5(FKRP):c.592G>A (p.Ala198Thr) rs1222197114
NM_024301.5(FKRP):c.5G>A (p.Arg2Gln)
NM_024301.5(FKRP):c.5G>T (p.Arg2Leu) rs1308459613
NM_024301.5(FKRP):c.601C>T (p.Leu201Phe) rs1568418509
NM_024301.5(FKRP):c.607C>T (p.Arg203Cys)
NM_024301.5(FKRP):c.608G>A (p.Arg203His) rs1568418540
NM_024301.5(FKRP):c.613C>T (p.Arg205Cys) rs753297636
NM_024301.5(FKRP):c.616G>A (p.Asp206Asn) rs1037585549
NM_024301.5(FKRP):c.628C>T (p.Leu210Phe) rs778472624
NM_024301.5(FKRP):c.632C>G (p.Ser211Trp)
NM_024301.5(FKRP):c.638C>T (p.Pro213Leu)
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.647G>A (p.Arg216Gln) rs794727652
NM_024301.5(FKRP):c.649C>A (p.Pro217Thr) rs2122620422
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser) rs878855080
NM_024301.5(FKRP):c.667T>G (p.Phe223Val) rs2054913534
NM_024301.5(FKRP):c.673C>A (p.Gln225Lys) rs1217634545
NM_024301.5(FKRP):c.674A>C (p.Gln225Pro)
NM_024301.5(FKRP):c.688G>A (p.Gly230Ser) rs761054322
NM_024301.5(FKRP):c.688G>T (p.Gly230Cys)
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys) rs2122621481
NM_024301.5(FKRP):c.707T>C (p.Leu236Pro)
NM_024301.5(FKRP):c.718T>C (p.Phe240Leu) rs2122621908
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.745G>A (p.Ala249Thr) rs757955092
NM_024301.5(FKRP):c.748A>G (p.Thr250Ala)
NM_024301.5(FKRP):c.755A>T (p.His252Leu) rs2054916702
NM_024301.5(FKRP):c.763T>A (p.Trp255Arg) rs2054916842
NM_024301.5(FKRP):c.775C>T (p.Arg259Cys) rs1333568893
NM_024301.5(FKRP):c.779A>C (p.Glu260Ala) rs1394263062
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.788C>T (p.Ala263Val) rs2122623716
NM_024301.5(FKRP):c.790C>G (p.Arg264Gly)
NM_024301.5(FKRP):c.794G>A (p.Arg265Gln) rs1320991574
NM_024301.5(FKRP):c.805C>T (p.Leu269Phe) rs2054918807
NM_024301.5(FKRP):c.811G>A (p.Ala271Thr) rs1331506516
NM_024301.5(FKRP):c.820A>T (p.Ile274Phe) rs1060502107
NM_024301.5(FKRP):c.832A>G (p.Ser278Gly)
NM_024301.5(FKRP):c.835T>C (p.Trp279Arg) rs2054919937
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.844G>A (p.Gly282Arg) rs2054920195
NM_024301.5(FKRP):c.859T>C (p.Phe287Leu) rs2054920778
NM_024301.5(FKRP):c.86A>G (p.His29Arg)
NM_024301.5(FKRP):c.870C>A (p.Asn290Lys)
NM_024301.5(FKRP):c.881C>A (p.Thr294Lys) rs1333089122
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.892G>A (p.Gly298Arg) rs886043401
NM_024301.5(FKRP):c.907G>A (p.Asp303Asn) rs765811792
NM_024301.5(FKRP):c.913C>A (p.Pro305Thr) rs2122626729
NM_024301.5(FKRP):c.91C>T (p.Pro31Ser)
NM_024301.5(FKRP):c.928G>A (p.Glu310Lys)
NM_024301.5(FKRP):c.928G>C (p.Glu310Gln) rs765885747
NM_024301.5(FKRP):c.933G>C (p.Glu311Asp) rs911700598
NM_024301.5(FKRP):c.935G>A (p.Arg312His)
NM_024301.5(FKRP):c.935G>T (p.Arg312Leu) rs868138875
NM_024301.5(FKRP):c.943C>G (p.Pro315Ala) rs1161657651
NM_024301.5(FKRP):c.950G>A (p.Cys317Tyr)
NM_024301.5(FKRP):c.961G>A (p.Ala321Thr)
NM_024301.5(FKRP):c.964C>G (p.Leu322Val) rs794727653
NM_024301.5(FKRP):c.976G>T (p.Ala326Ser) rs1201873802
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly) rs867877678
NM_024301.5(FKRP):c.979C>T (p.Arg327Cys)
NM_024301.5(FKRP):c.97A>G (p.Asn33Asp)
NM_024301.5(FKRP):c.983A>G (p.Tyr328Cys)
NM_024301.5(FKRP):c.994G>A (p.Val332Met) rs768917965

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