ClinVar Miner

List of variants studied for Walker-Warburg congenital muscular dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1633
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
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_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
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_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_001079802.2(FKTN):c.648-1278A>C rs181901044 0.00425
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_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00224
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
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_001079802.2(FKTN):c.166-4A>G rs193922689 0.00125
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_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625 0.00084
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_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_001079802.2(FKTN):c.285T>C (p.His95=) rs148046151 0.00050
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_133642.5(LARGE1):c.*823_*824dup rs140177888 0.00039
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe) rs145387221 0.00032
NM_001378328.1(CELSR1):c.1210G>A (p.Glu404Lys) rs201107590 0.00031
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_001079802.2(FKTN):c.910+13C>T rs375259473 0.00026
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) rs776947530 0.00026
NM_001079802.2(FKTN):c.102A>C (p.Thr34=) rs138740640 0.00025
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_001079802.2(FKTN):c.41C>T (p.Thr14Met) rs149033995 0.00019
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln) rs140217866 0.00016
NM_001079802.2(FKTN):c.333T>C (p.Thr111=) rs141729611 0.00015
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_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.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_001079802.2(FKTN):c.647+12G>A rs372589966 0.00011
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_133642.5(LARGE1):c.*770A>T rs886057456 0.00010
NM_001079802.2(FKTN):c.1172+13T>C rs768792475 0.00009
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_001079802.2(FKTN):c.1102T>C (p.Phe368Leu) rs374381691 0.00008
NM_024301.5(FKRP):c.54T>A (p.Leu18=) rs565563742 0.00008
NM_001079802.2(FKTN):c.106-13G>C rs370216581 0.00007
NM_001079802.2(FKTN):c.1212T>G (p.Phe404Leu) rs776724595 0.00007
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_001079802.2(FKTN):c.781-9T>C rs370564232 0.00006
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516 0.00006
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304 0.00006
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_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.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_001079802.2(FKTN):c.1173-8T>C rs767093535 0.00004
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) rs146272618 0.00004
NM_001079802.2(FKTN):c.1248C>T (p.Leu416=) rs774804160 0.00004
NM_001079802.2(FKTN):c.1383T>C (p.Tyr461=) rs140899569 0.00004
NM_001079802.2(FKTN):c.207T>C (p.Asn69=) rs752921570 0.00004
NM_001079802.2(FKTN):c.397A>G (p.Met133Val) rs569778463 0.00004
NM_001079802.2(FKTN):c.444C>T (p.Asp148=) rs759808323 0.00004
NM_001079802.2(FKTN):c.647+19C>T rs371472520 0.00004
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.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_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.393G>A (p.Glu131=) rs1472560195 0.00003
NM_001079802.2(FKTN):c.402A>T (p.Gly134=) rs780921233 0.00003
NM_001079802.2(FKTN):c.510G>A (p.Ala170=) rs187804924 0.00003
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195 0.00003
NM_001079802.2(FKTN):c.821G>A (p.Arg274Gln) rs767503045 0.00003
NM_001079802.2(FKTN):c.911-8C>A rs749557617 0.00003
NM_001378328.1(CELSR1):c.4415C>G (p.Thr1472Ser) rs931374138 0.00003
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.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_001079802.2(FKTN):c.1046T>C (p.Val349Ala) rs539089647 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079802.2(FKTN):c.1230T>C (p.His410=) rs189927779 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.30G>A (p.Leu10=) rs202047149 0.00002
NM_001079802.2(FKTN):c.342A>G (p.Ala114=) rs368598407 0.00002
NM_001079802.2(FKTN):c.575A>G (p.Lys192Arg) rs763737649 0.00002
NM_001079802.2(FKTN):c.63G>C (p.Leu21=) rs766642997 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_001079802.2(FKTN):c.911-17T>A rs201625324 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997 0.00002
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_001077365.2(POMT1):c.1255C>T (p.Gln419Ter) rs745509085 0.00001
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.111A>G (p.Gly37=) rs199594298 0.00001
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402 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.1172+11A>T rs891588561 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.117T>C (p.Gly39=) rs766999475 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.1188G>A (p.Lys396=) rs886063320 0.00001
NM_001079802.2(FKTN):c.1194A>G (p.Thr398=) rs1833922498 0.00001
NM_001079802.2(FKTN):c.1195C>T (p.Leu399=) rs768867435 0.00001
NM_001079802.2(FKTN):c.1218C>T (p.Asp406=) rs760470596 0.00001
NM_001079802.2(FKTN):c.1224G>A (p.Lys408=) rs200091271 0.00001
NM_001079802.2(FKTN):c.1260A>G (p.Glu420=) rs1290782710 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.1299G>A (p.Thr433=) rs912930168 0.00001
NM_001079802.2(FKTN):c.129C>T (p.Ser43=) rs760571628 0.00001
NM_001079802.2(FKTN):c.12C>G (p.Ile4Met) rs1389073650 0.00001
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=) rs904253784 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.139C>T (p.Arg47Ter) rs119463990 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.166-12T>A rs1419099088 0.00001
NM_001079802.2(FKTN):c.180A>G (p.Lys60=) rs886042513 0.00001
NM_001079802.2(FKTN):c.198C>G (p.Ser66=) rs367868644 0.00001
NM_001079802.2(FKTN):c.21C>T (p.Asn7=) rs564632018 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.330T>C (p.Phe110=) rs769567661 0.00001
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter) rs119463991 0.00001
NM_001079802.2(FKTN):c.34C>G (p.Leu12Val) rs939985733 0.00001
NM_001079802.2(FKTN):c.357A>G (p.Leu119=) rs760933616 0.00001
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys) rs150591365 0.00001
NM_001079802.2(FKTN):c.369+1G>C rs764125009 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.42del (p.Thr14_Leu15insTer) rs1309132512 0.00001
NM_001079802.2(FKTN):c.436C>T (p.Arg146Trp) rs1208639233 0.00001
NM_001079802.2(FKTN):c.443A>G (p.Asp148Gly) rs773305645 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.558C>T (p.His186=) rs761342779 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.588C>T (p.Asp196=) rs1222153269 0.00001
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506 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.648-8G>A rs754786678 0.00001
NM_001079802.2(FKTN):c.648-9T>C rs751515600 0.00001
NM_001079802.2(FKTN):c.66G>A (p.Leu22=) rs762170532 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.75G>A (p.Leu25=) rs188900946 0.00001
NM_001079802.2(FKTN):c.78C>T (p.Tyr26=) rs369797361 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.841C>T (p.Leu281=) rs199697041 0.00001
NM_001079802.2(FKTN):c.855G>A (p.Ala285=) rs1057521448 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.910+9C>G rs1261411883 0.00001
NM_001079802.2(FKTN):c.911-12T>A rs1831127930 0.00001
NM_001079802.2(FKTN):c.911-1G>A rs958678700 0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992 0.00001
NM_001079802.2(FKTN):c.92A>G (p.Tyr31Cys) rs533603648 0.00001
NM_001079802.2(FKTN):c.939T>G (p.Pro313=) rs1352489957 0.00001
NM_001079802.2(FKTN):c.942T>C (p.Tyr314=) rs970907026 0.00001
NM_001079802.2(FKTN):c.972A>G (p.Ile324Met) rs769691253 0.00001
NM_001079802.2(FKTN):c.978T>C (p.Asp326=) rs1018122957 0.00001
NM_001079802.2(FKTN):c.989A>G (p.Asp330Gly) rs1414568181 0.00001
NM_014254.3(RXYLT1):c.1018C>T (p.Arg340Ter) rs397514695 0.00001
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.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.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
NM_133642.5(LARGE1):c.-34G>A rs759430272 0.00001
NC_000009.11:g.(?_107546596)_(108536361_?)dup
NC_000009.11:g.(?_108320401)_(108337428_?)del
NC_000009.11:g.(?_108335926)_(108403409_?)del
NC_000009.11:g.(?_108337304)_(108358948_?)dup
NC_000009.11:g.(?_108337304)_(108397555_?)del
NC_000009.11:g.(?_108337314)_(108397545_?)del
NC_000009.11:g.(?_108337314)_(108468054_?)del
NC_000009.11:g.(?_108358859)_(108366793_?)del
NC_000009.11:g.(?_108358859)_(108368857_?)dup
NC_000009.11:g.(?_108358859)_(108382362_?)dup
NC_000009.11:g.(?_108358859)_(108484922_?)del
NC_000009.11:g.(?_108358859)_(108510491_?)dup
NC_000009.11:g.(?_108366486)_(108368857_?)del
NC_000009.11:g.(?_108368857)_(108370242_?)del
NC_000009.11:g.(?_108377539)_(108377708_?)dup
NC_000009.11:g.(?_108377549)_(108382383_?)del
NC_000009.11:g.(?_108397312)_(108397545_?)del
NC_000009.12:g.(?_105546358)_(105620061_?)del
NC_000009.12:g.(?_105575023)_(105575147_?)del
NC_000009.12:g.(?_105575023)_(105635274_?)dup
NC_000009.12:g.(?_105606576)_(105641128_?)del
NC_000009.12:g.105604215del
NC_000019.10:g.(?_46605817)_(46756948_?)dup
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_001077365.2(POMT1):c.184del (p.Asp62fs)
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001079802.1(FKTN):c.657dup (p.Gln220Thrfs) rs1554754678
NM_001079802.2(FKTN):c.*4388del rs148253503
NM_001079802.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
NM_001079802.2(FKTN):c.1002A>G (p.Ala334=) rs2133162787
NM_001079802.2(FKTN):c.1005T>C (p.Phe335=)
NM_001079802.2(FKTN):c.1011T>C (p.Asp337=)
NM_001079802.2(FKTN):c.1022del (p.Pro341fs) rs2133163213
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1023G>T (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1026C>T (p.Leu342=) rs17309806
NM_001079802.2(FKTN):c.1029del (p.Lys343fs)
NM_001079802.2(FKTN):c.1033A>G (p.Lys345Glu) rs2133163596
NM_001079802.2(FKTN):c.1044+15T>A rs1475492936
NM_001079802.2(FKTN):c.1044+16C>T rs1222775225
NM_001079802.2(FKTN):c.1044+17G>A rs200801909
NM_001079802.2(FKTN):c.1044+17G>C rs200801909
NM_001079802.2(FKTN):c.1044+19C>A rs2133164189
NM_001079802.2(FKTN):c.1044+9C>T rs2133163762
NM_001079802.2(FKTN):c.1045-13A>G
NM_001079802.2(FKTN):c.1045-20G>A
NM_001079802.2(FKTN):c.1045-20G>C rs2133209107
NM_001079802.2(FKTN):c.1045-3dup
NM_001079802.2(FKTN):c.1045-5C>T
NM_001079802.2(FKTN):c.1045-6C>G
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.105+15T>C
NM_001079802.2(FKTN):c.105+17T>G
NM_001079802.2(FKTN):c.105+7T>A
NM_001079802.2(FKTN):c.105+9A>G rs1332542267
NM_001079802.2(FKTN):c.105+9_105+10dup rs759773682
NM_001079802.2(FKTN):c.1053C>T (p.Asp351=)
NM_001079802.2(FKTN):c.1055G>A (p.Ser352Asn)
NM_001079802.2(FKTN):c.105G>A (p.Lys35=) rs751029878
NM_001079802.2(FKTN):c.106-10G>C
NM_001079802.2(FKTN):c.106-10G>T rs148384394
NM_001079802.2(FKTN):c.106-12T>C
NM_001079802.2(FKTN):c.106-13G>A
NM_001079802.2(FKTN):c.106-14T>G
NM_001079802.2(FKTN):c.106-15T>G
NM_001079802.2(FKTN):c.106-17T>C
NM_001079802.2(FKTN):c.106-18C>A
NM_001079802.2(FKTN):c.106-18C>T rs748663594
NM_001079802.2(FKTN):c.106-1G>C rs2132594628
NM_001079802.2(FKTN):c.106-20T>C
NM_001079802.2(FKTN):c.106-20T>G
NM_001079802.2(FKTN):c.106-2A>C
NM_001079802.2(FKTN):c.106-5C>A rs1338220455
NM_001079802.2(FKTN):c.106-5C>T
NM_001079802.2(FKTN):c.1065A>C (p.Leu355=) rs751317602
NM_001079802.2(FKTN):c.1065A>G (p.Leu355=)
NM_001079802.2(FKTN):c.107dup (p.Asn36fs)
NM_001079802.2(FKTN):c.1080A>G (p.Lys360=) rs2133210088
NM_001079802.2(FKTN):c.1082A>C (p.Asp361Ala)
NM_001079802.2(FKTN):c.1086T>A (p.Asp362Glu) rs1588221689
NM_001079802.2(FKTN):c.1086T>C (p.Asp362=) rs1588221689
NM_001079802.2(FKTN):c.1088T>G (p.Val363Gly) rs1362238936
NM_001079802.2(FKTN):c.1098T>C (p.Asp366=)
NM_001079802.2(FKTN):c.1099del (p.Val367fs) rs1554761310
NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter) rs773884973
NM_001079802.2(FKTN):c.10A>C (p.Ile4Leu) rs757900916
NM_001079802.2(FKTN):c.1101T>C (p.Val367=)
NM_001079802.2(FKTN):c.1101T>G (p.Val367=)
NM_001079802.2(FKTN):c.1104T>A (p.Phe368Leu) rs1831558425
NM_001079802.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_001079802.2(FKTN):c.1110C>T (p.Phe370=)
NM_001079802.2(FKTN):c.1113T>C (p.Tyr371=) rs2133210756
NM_001079802.2(FKTN):c.1116A>G (p.Glu372=) rs2133210810
NM_001079802.2(FKTN):c.1117G>T (p.Glu373Ter)
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.1134G>A (p.Trp378Ter)
NM_001079802.2(FKTN):c.1143C>A (p.Gly381=)
NM_001079802.2(FKTN):c.1146T>C (p.Thr382=) rs2133211422
NM_001079802.2(FKTN):c.1149G>A (p.Gln383=) rs1831565349
NM_001079802.2(FKTN):c.1149G>C (p.Gln383His)
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter) rs1588222602
NM_001079802.2(FKTN):c.1157C>T (p.Thr386Ile) rs1831566546
NM_001079802.2(FKTN):c.1158A>G (p.Thr386=) rs886044528
NM_001079802.2(FKTN):c.1162A>C (p.Lys388Gln) rs1831568665
NM_001079802.2(FKTN):c.1167A>G (p.Lys389=)
NM_001079802.2(FKTN):c.1167_1168dup (p.Phe390fs) rs1588222870
NM_001079802.2(FKTN):c.1167del (p.Lys389fs) rs398123555
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1172+13dup
NM_001079802.2(FKTN):c.1172+15A>G
NM_001079802.2(FKTN):c.1172+19C>T
NM_001079802.2(FKTN):c.1172+1G>A rs1554761462
NM_001079802.2(FKTN):c.1172+4T>C rs2133212082
NM_001079802.2(FKTN):c.1173-14_1173-13del rs2133450190
NM_001079802.2(FKTN):c.1173-16C>G
NM_001079802.2(FKTN):c.1173-18C>T
NM_001079802.2(FKTN):c.1173-19T>C
NM_001079802.2(FKTN):c.1173-1G>C rs557699482
NM_001079802.2(FKTN):c.1173-4G>A
NM_001079802.2(FKTN):c.1173-9T>A rs2133450310
NM_001079802.2(FKTN):c.1173A>G (p.Lys391=) rs2133450404
NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter) rs1203741361
NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter) rs1203741361
NM_001079802.2(FKTN):c.1176C>T (p.Tyr392=)
NM_001079802.2(FKTN):c.1177C>A (p.Leu393Met) rs1249398294
NM_001079802.2(FKTN):c.1179G>A (p.Leu393=)
NM_001079802.2(FKTN):c.1179G>C (p.Leu393=) rs369117043
NM_001079802.2(FKTN):c.1179G>T (p.Leu393=)
NM_001079802.2(FKTN):c.1182T>G (p.Phe394Leu)
NM_001079802.2(FKTN):c.1185G>A (p.Pro395=) rs141886790
NM_001079802.2(FKTN):c.1185G>T (p.Pro395=) rs141886790
NM_001079802.2(FKTN):c.1191T>C (p.Phe397=) rs2133450806
NM_001079802.2(FKTN):c.1196T>C (p.Leu399Pro) rs1833923288
NM_001079802.2(FKTN):c.1198_1207del (p.Cys400fs) rs2133450854
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.1209G>A (p.Glu403=) rs2133451076
NM_001079802.2(FKTN):c.120G>A (p.Leu40=)
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.1236C>A (p.Pro412=) rs1554766880
NM_001079802.2(FKTN):c.1237T>C (p.Cys413Arg) rs138836248
NM_001079802.2(FKTN):c.1248C>G (p.Leu416=) rs774804160
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.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001079802.2(FKTN):c.1263C>T (p.Ala421=)
NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs) rs1554766898
NM_001079802.2(FKTN):c.1265A>G (p.Asn422Ser) rs1833935107
NM_001079802.2(FKTN):c.1266C>T (p.Asn422=)
NM_001079802.2(FKTN):c.1267_1270dup (p.Gly424fs)
NM_001079802.2(FKTN):c.1269T>C (p.Tyr423=) rs1554766906
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_001079802.2(FKTN):c.1272dup (p.Lys425Ter)
NM_001079802.2(FKTN):c.1275G>A (p.Lys425=)
NM_001079802.2(FKTN):c.1278C>T (p.Thr426=) rs2133452125
NM_001079802.2(FKTN):c.1284G>T (p.Lys428Asn) rs938548521
NM_001079802.2(FKTN):c.1287T>A (p.Ile429=) rs2133452264
NM_001079802.2(FKTN):c.1287del (p.Pro430fs) rs2133452242
NM_001079802.2(FKTN):c.1290T>G (p.Pro430=) rs2133452334
NM_001079802.2(FKTN):c.1299G>T (p.Thr433=)
NM_001079802.2(FKTN):c.12C>T (p.Ile4=) rs1389073650
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.1317_1318dup (p.Pro440fs) rs886042778
NM_001079802.2(FKTN):c.1319C>T (p.Pro440Leu) rs1564357396
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001079802.2(FKTN):c.1338T>C (p.Asn446=) rs2133452991
NM_001079802.2(FKTN):c.1349C>T (p.Pro450Leu)
NM_001079802.2(FKTN):c.1350T>C (p.Pro450=) rs2133453085
NM_001079802.2(FKTN):c.1359G>A (p.Glu453=) rs2133453218
NM_001079802.2(FKTN):c.1368G>A (p.Glu456=)
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.153T>C (p.Asp51=)
NM_001079802.2(FKTN):c.159A>G (p.Thr53=)
NM_001079802.2(FKTN):c.15T>C (p.Asn5=) rs1841416731
NM_001079802.2(FKTN):c.162G>A (p.Gln54=)
NM_001079802.2(FKTN):c.164G>A (p.Trp55Ter)
NM_001079802.2(FKTN):c.164G>T (p.Trp55Leu) rs1826858068
NM_001079802.2(FKTN):c.165+10A>G rs2132596452
NM_001079802.2(FKTN):c.165+13A>G
NM_001079802.2(FKTN):c.165+15C>A
NM_001079802.2(FKTN):c.165+18G>T
NM_001079802.2(FKTN):c.165+1G>T
NM_001079802.2(FKTN):c.165+3A>G
NM_001079802.2(FKTN):c.165G>A (p.Trp55Ter)
NM_001079802.2(FKTN):c.166-11C>A
NM_001079802.2(FKTN):c.166-16T>C
NM_001079802.2(FKTN):c.166-16T>G
NM_001079802.2(FKTN):c.166-17C>T
NM_001079802.2(FKTN):c.166-1G>A
NM_001079802.2(FKTN):c.166-3C>A
NM_001079802.2(FKTN):c.166-7_166-6inv
NM_001079802.2(FKTN):c.166-9C>T rs1361772036
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.180dup (p.Phe61fs) rs2132704748
NM_001079802.2(FKTN):c.183T>C (p.Phe61=)
NM_001079802.2(FKTN):c.187_188del (p.Met63fs) rs587777813
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.210A>T (p.Val70=)
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.222T>G (p.Leu74=)
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.22G>T (p.Val8Leu) rs368981218
NM_001079802.2(FKTN):c.231T>G (p.Pro77=) rs2132706103
NM_001079802.2(FKTN):c.238C>T (p.Leu80=) rs1404872177
NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro) rs371697266
NM_001079802.2(FKTN):c.251A>G (p.Asn84Ser)
NM_001079802.2(FKTN):c.252T>C (p.Asn84=)
NM_001079802.2(FKTN):c.256_257del (p.Asn86fs)
NM_001079802.2(FKTN):c.257A>T (p.Asn86Ile) rs1295912375
NM_001079802.2(FKTN):c.258C>T (p.Asn86=) rs1554751233
NM_001079802.2(FKTN):c.25G>C (p.Val9Leu) rs145387221
NM_001079802.2(FKTN):c.262G>C (p.Glu88Gln)
NM_001079802.2(FKTN):c.264A>G (p.Glu88=) rs2132706649
NM_001079802.2(FKTN):c.273A>G (p.Lys91=)
NM_001079802.2(FKTN):c.276T>C (p.Asn92=)
NM_001079802.2(FKTN):c.278C>T (p.Thr93Ile)
NM_001079802.2(FKTN):c.27T>G (p.Val9=)
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.291T>C (p.Ser97=) rs2132707147
NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser) rs376452959
NM_001079802.2(FKTN):c.293C>T (p.Thr98Ile) rs376452959
NM_001079802.2(FKTN):c.294T>A (p.Thr98=) rs2132707341
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.300A>G (p.Gln100=) rs1588088054
NM_001079802.2(FKTN):c.301T>C (p.Cys101Arg) rs886044095
NM_001079802.2(FKTN):c.306G>A (p.Lys102=)
NM_001079802.2(FKTN):c.312C>A (p.Phe104Leu) rs2132707762
NM_001079802.2(FKTN):c.312C>T (p.Phe104=)
NM_001079802.2(FKTN):c.316G>T (p.Val106Phe)
NM_001079802.2(FKTN):c.319C>G (p.Pro107Ala) rs2132707901
NM_001079802.2(FKTN):c.321A>G (p.Pro107=) rs1488726924
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.329_330del (p.Phe110fs) rs767865405
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.343C>T (p.Leu115=)
NM_001079802.2(FKTN):c.345G>A (p.Leu115=)
NM_001079802.2(FKTN):c.348G>A (p.Gln116=) rs1361635341
NM_001079802.2(FKTN):c.350A>G (p.Tyr117Cys)
NM_001079802.2(FKTN):c.354C>T (p.His118=)
NM_001079802.2(FKTN):c.355C>T (p.Leu119=) rs1554751390
NM_001079802.2(FKTN):c.360G>A (p.Trp120Ter) rs1564284467
NM_001079802.2(FKTN):c.367G>T (p.Glu123Ter) rs1376019203
NM_001079802.2(FKTN):c.369+10T>C rs2132709628
NM_001079802.2(FKTN):c.369+12G>A
NM_001079802.2(FKTN):c.369+1G>A rs764125009
NM_001079802.2(FKTN):c.369+20A>G rs1354235244
NM_001079802.2(FKTN):c.369+20A>T
NM_001079802.2(FKTN):c.369+2T>G
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.369+7G>A rs2132709548
NM_001079802.2(FKTN):c.370-10T>C
NM_001079802.2(FKTN):c.370-18A>T
NM_001079802.2(FKTN):c.370-2A>T rs1554752805
NM_001079802.2(FKTN):c.370-7G>A rs797045577
NM_001079802.2(FKTN):c.370-7G>T rs797045577
NM_001079802.2(FKTN):c.370-8G>T
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.375C>T (p.Gly125=)
NM_001079802.2(FKTN):c.37T>C (p.Leu13=) rs2132017021
NM_001079802.2(FKTN):c.384G>T (p.Arg128=)
NM_001079802.2(FKTN):c.388G>A (p.Ala130Thr)
NM_001079802.2(FKTN):c.394A>G (p.Asn132Asp) rs2132791236
NM_001079802.2(FKTN):c.395del (p.Asn132fs) rs2132791309
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.403_404insGCCTAAATCT (p.Phe135fs) rs1564290459
NM_001079802.2(FKTN):c.406C>T (p.Gln136Ter) rs2132792099
NM_001079802.2(FKTN):c.408G>C (p.Gln136His)
NM_001079802.2(FKTN):c.409T>A (p.Cys137Ser)
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.411C>T (p.Cys137=) rs537001725
NM_001079802.2(FKTN):c.412C>T (p.Leu138=)
NM_001079802.2(FKTN):c.41C>G (p.Thr14Arg) rs149033995
NM_001079802.2(FKTN):c.420_432dup (p.Pro145Ter) rs2132792659
NM_001079802.2(FKTN):c.425G>A (p.Ser142Asn) rs745597550
NM_001079802.2(FKTN):c.426T>G (p.Ser142Arg)
NM_001079802.2(FKTN):c.429del (p.Asp144fs) rs1057516258
NM_001079802.2(FKTN):c.42G>C (p.Thr14=) rs78794935
NM_001079802.2(FKTN):c.42G>T (p.Thr14=) rs78794935
NM_001079802.2(FKTN):c.432del (p.Arg146fs) rs1588110929
NM_001079802.2(FKTN):c.435C>G (p.Pro145=) rs1356233558
NM_001079802.2(FKTN):c.438G>T (p.Arg146=) rs769735457
NM_001079802.2(FKTN):c.439C>T (p.Leu147=)
NM_001079802.2(FKTN):c.43C>T (p.Leu15=)
NM_001079802.2(FKTN):c.441A>G (p.Leu147=) rs2132793754
NM_001079802.2(FKTN):c.447G>T (p.Gly149=)
NM_001079802.2(FKTN):c.448A>G (p.Ile150Val) rs886044482
NM_001079802.2(FKTN):c.454dup (p.Ser152fs) rs587777748
NM_001079802.2(FKTN):c.456A>G (p.Ser152=)
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs) rs760731888
NM_001079802.2(FKTN):c.457C>G (p.Leu153Val) rs977350409
NM_001079802.2(FKTN):c.45G>T (p.Leu15=) rs2132017290
NM_001079802.2(FKTN):c.462T>A (p.Ser154=)
NM_001079802.2(FKTN):c.467C>A (p.Thr156Asn) rs1828456809
NM_001079802.2(FKTN):c.468T>G (p.Thr156=) rs752268829
NM_001079802.2(FKTN):c.473dup (p.Leu160fs)
NM_001079802.2(FKTN):c.475C>G (p.Pro159Ala) rs755830677
NM_001079802.2(FKTN):c.477C>T (p.Pro159=)
NM_001079802.2(FKTN):c.479T>C (p.Leu160Pro)
NM_001079802.2(FKTN):c.479del (p.Leu160fs)
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.483C>T (p.His161=) rs1319173869
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.48A>G (p.Thr16=) rs2132017319
NM_001079802.2(FKTN):c.499G>A (p.Ala167Thr) rs2132796265
NM_001079802.2(FKTN):c.49A>G (p.Ser17Gly)
NM_001079802.2(FKTN):c.501C>T (p.Ala167=)
NM_001079802.2(FKTN):c.505C>G (p.His169Asp) rs1243169303
NM_001079802.2(FKTN):c.507T>C (p.His169=) rs756766493
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu) rs119464997
NM_001079802.2(FKTN):c.509C>T (p.Ala170Val)
NM_001079802.2(FKTN):c.511A>T (p.Ile171Phe) rs1432918466
NM_001079802.2(FKTN):c.513C>A (p.Ile171=)
NM_001079802.2(FKTN):c.515A>T (p.His172Leu) rs758166890
NM_001079802.2(FKTN):c.51T>C (p.Ser17=)
NM_001079802.2(FKTN):c.520G>A (p.Val174Ile) rs749663903
NM_001079802.2(FKTN):c.528dup (p.His177fs) rs1588112379
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.531T>C (p.His177=) rs534638144
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr) rs119463994
NM_001079802.2(FKTN):c.537G>A (p.Arg179=)
NM_001079802.2(FKTN):c.538A>T (p.Ser180Cys) rs2132798439
NM_001079802.2(FKTN):c.539G>T (p.Ser180Ile)
NM_001079802.2(FKTN):c.540T>C (p.Ser180=)
NM_001079802.2(FKTN):c.540del (p.Ser180fs) rs1828477244
NM_001079802.2(FKTN):c.543C>G (p.Gly181=)
NM_001079802.2(FKTN):c.545A>C (p.Asn182Thr) rs760170065
NM_001079802.2(FKTN):c.546C>T (p.Asn182=)
NM_001079802.2(FKTN):c.547T>A (p.Tyr183Asn) rs1163774436
NM_001079802.2(FKTN):c.549C>T (p.Tyr183=)
NM_001079802.2(FKTN):c.552C>T (p.Leu184=) rs2132798933
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.565T>C (p.Leu189=)
NM_001079802.2(FKTN):c.567G>C (p.Leu189Phe) rs988842962
NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer) rs2132800044
NM_001079802.2(FKTN):c.569G>A (p.Arg190Lys) rs760967116
NM_001079802.2(FKTN):c.57A>G (p.Ala19=) rs2132017433
NM_001079802.2(FKTN):c.585dup (p.Asp196Ter) rs2132800552
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.591G>A (p.Arg197=)
NM_001079802.2(FKTN):c.615A>G (p.Leu205=)
NM_001079802.2(FKTN):c.617A>C (p.Gln206Pro)
NM_001079802.2(FKTN):c.619T>G (p.Phe207Val) rs1461669175
NM_001079802.2(FKTN):c.61C>T (p.Leu21=) rs2132017500
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.626_627dup (p.Tyr210fs)
NM_001079802.2(FKTN):c.630T>A (p.Tyr210Ter)
NM_001079802.2(FKTN):c.638C>T (p.Ala213Val) rs774612427
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.645C>T (p.Asp215=) rs1464758743
NM_001079802.2(FKTN):c.647+12G>T
NM_001079802.2(FKTN):c.647+17A>G
NM_001079802.2(FKTN):c.647+1G>A rs2132802825
NM_001079802.2(FKTN):c.647+20G>A
NM_001079802.2(FKTN):c.647+3A>G rs1828504981
NM_001079802.2(FKTN):c.647+5_647+7dup
NM_001079802.2(FKTN):c.647+8C>T
NM_001079802.2(FKTN):c.647+8_647+9del rs2132803231
NM_001079802.2(FKTN):c.647+9A>C rs1588113617
NM_001079802.2(FKTN):c.647+9A>G
NM_001079802.2(FKTN):c.647G>A (p.Arg216Lys) rs1828504500
NM_001079802.2(FKTN):c.647G>T (p.Arg216Met)
NM_001079802.2(FKTN):c.648-10T>C rs887162237
NM_001079802.2(FKTN):c.648-10_648-9del
NM_001079802.2(FKTN):c.648-1243G>A rs1554754182
NM_001079802.2(FKTN):c.648-1243G>T rs1554754182
NM_001079802.2(FKTN):c.648-15A>T
NM_001079802.2(FKTN):c.648-17T>A
NM_001079802.2(FKTN):c.648-18C>A
NM_001079802.2(FKTN):c.648-25_648-5del
NM_001079802.2(FKTN):c.648-2A>G
NM_001079802.2(FKTN):c.648-3C>T rs1430063746
NM_001079802.2(FKTN):c.648-4T>C rs1829177357
NM_001079802.2(FKTN):c.648-7T>C
NM_001079802.2(FKTN):c.64C>T (p.Leu22=)
NM_001079802.2(FKTN):c.650del (p.Pro217fs)
NM_001079802.2(FKTN):c.653A>T (p.Glu218Val) rs978338266
NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter) rs754081311
NM_001079802.2(FKTN):c.659A>G (p.Gln220Arg)
NM_001079802.2(FKTN):c.660G>A (p.Gln220=)
NM_001079802.2(FKTN):c.663A>G (p.Gln221=)
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile) rs1293245717
NM_001079802.2(FKTN):c.666T>C (p.Val222=)
NM_001079802.2(FKTN):c.667A>G (p.Thr223Ala)
NM_001079802.2(FKTN):c.66G>C (p.Leu22=)
NM_001079802.2(FKTN):c.672T>C (p.Val224=) rs2132898704
NM_001079802.2(FKTN):c.675T>A (p.Asp225Glu)
NM_001079802.2(FKTN):c.675T>C (p.Asp225=)
NM_001079802.2(FKTN):c.676G>T (p.Gly226Ter)
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.690C>G (p.Leu230=)
NM_001079802.2(FKTN):c.696A>G (p.Pro232=)
NM_001079802.2(FKTN):c.69T>C (p.Phe23=) rs1238906881
NM_001079802.2(FKTN):c.69T>G (p.Phe23Leu)
NM_001079802.2(FKTN):c.6T>C (p.Ser2=) rs1350049256
NM_001079802.2(FKTN):c.705A>G (p.Pro235=) rs1829190548
NM_001079802.2(FKTN):c.705A>T (p.Pro235=)
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.738G>A (p.Arg246=)
NM_001079802.2(FKTN):c.73T>C (p.Leu25=) rs2132017783
NM_001079802.2(FKTN):c.743T>C (p.Ile248Thr) rs2132900809
NM_001079802.2(FKTN):c.745G>T (p.Glu249Ter)
NM_001079802.2(FKTN):c.750T>C (p.Cys250=) rs2132901145
NM_001079802.2(FKTN):c.751A>G (p.Arg251Gly)
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter) rs1564301594
NM_001079802.2(FKTN):c.759A>G (p.Lys253=)
NM_001079802.2(FKTN):c.765T>C (p.Ala255=) rs2132901560
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter) rs377417974
NM_001079802.2(FKTN):c.767G>A (p.Arg256Gln)
NM_001079802.2(FKTN):c.768A>C (p.Arg256=)
NM_001079802.2(FKTN):c.771A>G (p.Ala257=)
NM_001079802.2(FKTN):c.774C>G (p.Phe258Leu) rs1829205310
NM_001079802.2(FKTN):c.780+10A>G
NM_001079802.2(FKTN):c.780+10A>T rs2132902784
NM_001079802.2(FKTN):c.780+11A>G rs1829208773
NM_001079802.2(FKTN):c.780+11del rs931791589
NM_001079802.2(FKTN):c.780+12C>A
NM_001079802.2(FKTN):c.780+13C>G
NM_001079802.2(FKTN):c.780+15_780+16dup rs765546968
NM_001079802.2(FKTN):c.780+16A>C
NM_001079802.2(FKTN):c.780+16A>G
NM_001079802.2(FKTN):c.780+18G>T
NM_001079802.2(FKTN):c.780+19T>C rs752490932
NM_001079802.2(FKTN):c.780+20G>A rs560193714
NM_001079802.2(FKTN):c.780+20G>C
NM_001079802.2(FKTN):c.780+20G>T
NM_001079802.2(FKTN):c.780+2T>A
NM_001079802.2(FKTN):c.780+2T>C rs1588136441
NM_001079802.2(FKTN):c.780+7G>A
NM_001079802.2(FKTN):c.780G>A (p.Gln260=) rs1459814015
NM_001079802.2(FKTN):c.781-10A>C rs2133098060
NM_001079802.2(FKTN):c.781-10A>T rs2133098060
NM_001079802.2(FKTN):c.781-11_781-9del rs1830613326
NM_001079802.2(FKTN):c.781-12T>C
NM_001079802.2(FKTN):c.781-14T>C
NM_001079802.2(FKTN):c.781-15T>A
NM_001079802.2(FKTN):c.781-17A>G
NM_001079802.2(FKTN):c.781-1G>A
NM_001079802.2(FKTN):c.781-3T>A rs2133098515
NM_001079802.2(FKTN):c.781-4G>A rs1588182774
NM_001079802.2(FKTN):c.781-8A>C
NM_001079802.2(FKTN):c.781C>T (p.Gln261Ter)
NM_001079802.2(FKTN):c.783G>A (p.Gln261=)
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.801T>C (p.Thr267=) rs2133099117
NM_001079802.2(FKTN):c.803_804del (p.Val268fs)
NM_001079802.2(FKTN):c.82_83insGT (p.Tyr28fs)
NM_001079802.2(FKTN):c.835G>A (p.Glu279Lys)
NM_001079802.2(FKTN):c.836A>G (p.Glu279Gly)
NM_001079802.2(FKTN):c.838T>C (p.Leu280=) rs2133099979
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.844C>T (p.Gln282Ter)
NM_001079802.2(FKTN):c.861A>C (p.Thr287=)
NM_001079802.2(FKTN):c.861A>G (p.Thr287=)
NM_001079802.2(FKTN):c.861A>T (p.Thr287=)
NM_001079802.2(FKTN):c.867C>T (p.Asn289=) rs1554757882
NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter) rs1438288380
NM_001079802.2(FKTN):c.877G>T (p.Val293Leu) rs146900302
NM_001079802.2(FKTN):c.882A>G (p.Pro294=)
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.900A>G (p.Gly300=)
NM_001079802.2(FKTN):c.905G>A (p.Cys302Tyr) rs1554757939
NM_001079802.2(FKTN):c.907C>T (p.Leu303=) rs147778604
NM_001079802.2(FKTN):c.90C>T (p.His30=) rs2132018196
NM_001079802.2(FKTN):c.910+12A>C
NM_001079802.2(FKTN):c.910+12A>G
NM_001079802.2(FKTN):c.910+13C>G
NM_001079802.2(FKTN):c.910+19T>C rs771773538
NM_001079802.2(FKTN):c.910+19T>G rs771773538
NM_001079802.2(FKTN):c.910+1G>C
NM_001079802.2(FKTN):c.910+8T>A rs2133101895
NM_001079802.2(FKTN):c.911-13A>G rs766103012
NM_001079802.2(FKTN):c.911-13A>T rs766103012
NM_001079802.2(FKTN):c.911-16T>G
NM_001079802.2(FKTN):c.911-18A>T
NM_001079802.2(FKTN):c.911-2A>C
NM_001079802.2(FKTN):c.911-7T>C rs2133160455
NM_001079802.2(FKTN):c.911-8C>T rs749557617
NM_001079802.2(FKTN):c.911-8_911-6del rs1235625341
NM_001079802.2(FKTN):c.912A>G (p.Gly304=) rs778424333
NM_001079802.2(FKTN):c.912A>T (p.Gly304=)
NM_001079802.2(FKTN):c.914G>A (p.Trp305Ter) rs2133160637
NM_001079802.2(FKTN):c.917A>G (p.Tyr306Cys)
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
NM_001079802.2(FKTN):c.921A>G (p.Arg307=)
NM_001079802.2(FKTN):c.938C>T (p.Pro313Leu) rs1588204815
NM_001079802.2(FKTN):c.93T>A (p.Tyr31Ter) rs2132018294
NM_001079802.2(FKTN):c.93T>C (p.Tyr31=) rs2132018294
NM_001079802.2(FKTN):c.941A>G (p.Tyr314Cys) rs1451453111
NM_001079802.2(FKTN):c.942T>G (p.Tyr314Ter) rs970907026
NM_001079802.2(FKTN):c.952G>A (p.Val318Ile) rs141120187
NM_001079802.2(FKTN):c.960A>T (p.Leu320=) rs2133161727
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.979_985dup (p.Ser329fs)
NM_001079802.2(FKTN):c.980A>G (p.Tyr327Cys)
NM_001079802.2(FKTN):c.984A>G (p.Lys328=)
NM_001079802.2(FKTN):c.993T>C (p.Ile331=)
NM_001079802.2(FKTN):c.998T>C (p.Leu333Ser)
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.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.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.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.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.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.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.1118G>A (p.Gly373Asp) rs1413156584
NM_024301.5(FKRP):c.1119C>T (p.Gly373=)
NM_024301.5(FKRP):c.1123T>A (p.Cys375Ser) rs763940706
NM_024301.5(FKRP):c.1125C>A (p.Cys375Ter)
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.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.1208dup (p.Arg404fs)
NM_024301.5(FKRP):c.1211G>A (p.Arg404His) rs2054934225
NM_024301.5(FKRP):c.1213G>C (p.Val405Leu)
NM_024301.5(FKRP):c.1215G>T (p.Val405=)
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.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.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.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.1365C>G (p.Ala455=)
NM_024301.5(FKRP):c.1365C>T (p.Ala455=) rs2122636152
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.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.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.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.1A>C (p.Met1Leu) 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.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.267G>A (p.Pro89=) rs774192252
NM_024301.5(FKRP):c.267G>T (p.Pro89=)
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.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.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.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.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.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.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.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.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.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.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>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.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.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.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>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.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.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.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.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.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.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.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.763T>A (p.Trp255Arg) rs2054916842
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.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.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.859T>C (p.Phe287Leu) rs2054920778
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.885C>G (p.Arg295=)
NM_024301.5(FKRP):c.888C>T (p.Cys296=)
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.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.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.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.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.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.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.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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