ClinVar Miner

List of variants in gene FKRP reported as uncertain significance for Walker-Warburg congenital muscular dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 333
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HGVS dbSNP gnomAD frequency
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_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.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.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.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_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.298C>T (p.Arg100Cys) rs1244445645 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_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_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.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_000019.10:g.(?_46755441)_(46756948_?)dup
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.1115T>G (p.Val372Gly) rs771793862
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.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.324G>A (p.Leu108=) rs2054898950
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.57G>A (p.Leu19=) rs2122607618
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.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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