ClinVar Miner

List of variants reported as uncertain significance for muscular dystrophy-dystroglycanopathy, type B

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1488
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_133642.5(LARGE1):c.-399A>T rs535216289 0.00327
NM_001079802.2(FKTN):c.*2265T>C rs76003803 0.00304
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_001079802.2(FKTN):c.*2592T>C rs538086095 0.00220
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_133642.5(LARGE1):c.-480C>T rs886057469 0.00148
NM_133642.5(LARGE1):c.-455G>A rs532736408 0.00134
NM_133642.5(LARGE1):c.*100C>A rs567278765 0.00131
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_133642.5(LARGE1):c.-481G>T rs537756491 0.00109
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_133642.5(LARGE1):c.-271G>A rs185068235 0.00093
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) rs762283381 0.00071
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) rs141089495 0.00070
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_133642.5(LARGE1):c.-194G>A rs530725597 0.00059
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 0.00051
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_013382.7(POMT2):c.2086C>A (p.Pro696Thr) rs76700503 0.00041
NM_133642.5(LARGE1):c.*998A>G rs886057455 0.00033
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe) rs145387221 0.00032
NM_001077365.2(POMT1):c.855+6T>C rs200692465 0.00031
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_133642.5(LARGE1):c.*798G>A rs778063005 0.00029
NM_001079802.2(FKTN):c.*3516T>C rs1041010308 0.00026
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) rs776947530 0.00026
NM_133642.5(LARGE1):c.535G>A (p.Glu179Lys) rs370128137 0.00026
NM_133642.5(LARGE1):c.178C>T (p.Arg60Trp) rs142135345 0.00025
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_001077365.2(POMT1):c.629C>T (p.Thr210Met) rs377037072 0.00023
NM_013382.7(POMT2):c.1691C>T (p.Thr564Met) rs142445941 0.00023
NM_133642.5(LARGE1):c.*155C>T rs551266967 0.00023
NM_013382.7(POMT2):c.293A>G (p.Asn98Ser) rs368034790 0.00022
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177 0.00021
NM_001077365.2(POMT1):c.1439A>G (p.Tyr480Cys) rs145464516 0.00021
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763 0.00021
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His) rs139701867 0.00021
NM_133642.5(LARGE1):c.*699G>A rs760092745 0.00021
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) rs149033995 0.00019
NM_013382.7(POMT2):c.1397G>A (p.Arg466Gln) rs138266415 0.00019
NM_017739.4(POMGNT1):c.120+3A>G rs543271070 0.00019
NM_133642.5(LARGE1):c.-343C>A rs886057467 0.00019
NM_133642.5(LARGE1):c.1675A>G (p.Met559Val) rs191368661 0.00019
NM_133642.5(LARGE1):c.*455C>T rs886057460 0.00018
NM_133642.5(LARGE1):c.584G>A (p.Arg195His) rs147597912 0.00017
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642 0.00016
NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser) rs199743727 0.00016
NM_013382.7(POMT2):c.2083T>A (p.Trp695Arg) rs139308429 0.00016
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln) rs140217866 0.00016
NM_133642.5(LARGE1):c.-247T>G rs886057463 0.00016
NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met) rs368043810 0.00016
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760 0.00015
NM_001079802.2(FKTN):c.*2433G>A rs886063329 0.00015
NM_013382.7(POMT2):c.656+3C>G rs561052172 0.00015
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) rs190112934 0.00014
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441 0.00014
NM_021971.4(GMPPB):c.887G>A (p.Arg296Gln) rs144040971 0.00014
NM_133642.5(LARGE1):c.179G>A (p.Arg60Gln) rs147620818 0.00014
NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser) rs139774354 0.00013
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618 0.00013
NM_013382.7(POMT2):c.1337G>A (p.Gly446Glu) rs376649599 0.00013
NM_013382.7(POMT2):c.148C>G (p.Arg50Gly) rs550420394 0.00013
NM_133642.5(LARGE1):c.1577G>A (p.Arg526His) rs536420427 0.00013
NM_013382.7(POMT2):c.1889C>T (p.Ala630Val) rs752214239 0.00012
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) rs12627793 0.00012
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413 0.00011
NM_001077365.2(POMT1):c.281-5T>C rs367743923 0.00011
NM_001077365.2(POMT1):c.875C>G (p.Thr292Ser) rs376471064 0.00011
NM_001079802.2(FKTN):c.*2508G>T rs886063330 0.00011
NM_001079802.2(FKTN):c.*3547C>T rs886063336 0.00011
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_017739.4(POMGNT1):c.1979C>T (p.Thr660Ile) rs377760450 0.00011
NM_017739.4(POMGNT1):c.22C>A (p.Pro8Thr) rs186444670 0.00011
NM_017739.4(POMGNT1):c.652+6G>A rs369289384 0.00011
NM_021971.4(GMPPB):c.956G>A (p.Arg319His) rs768327938 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_133642.5(LARGE1):c.*499G>A rs886057458 0.00011
NM_133642.5(LARGE1):c.1645G>A (p.Val549Met) rs149646216 0.00011
NM_133642.5(LARGE1):c.1664G>A (p.Ser555Asn) rs773148038 0.00011
NM_133642.5(LARGE1):c.2073+11C>T rs774384587 0.00011
NM_133642.5(LARGE1):c.460G>A (p.Val154Ile) rs138938225 0.00011
NM_001077365.2(POMT1):c.1252G>A (p.Ala418Thr) rs142057517 0.00010
NM_013382.7(POMT2):c.1363C>T (p.Arg455Trp) rs398124261 0.00010
NM_013382.7(POMT2):c.2056C>T (p.Arg686Trp) rs727502859 0.00010
NM_017739.4(POMGNT1):c.355G>A (p.Val119Met) rs148498470 0.00010
NM_021971.4(GMPPB):c.129+5G>A rs370203820 0.00010
NM_133642.5(LARGE1):c.*849C>T rs149508241 0.00010
NM_133642.5(LARGE1):c.2015G>A (p.Arg672Gln) rs145736519 0.00010
NM_133642.5(LARGE1):c.334G>A (p.Glu112Lys) rs146078928 0.00010
NM_133642.5(LARGE1):c.478G>A (p.Val160Ile) rs775539988 0.00010
NM_133642.5(LARGE1):c.796G>C (p.Val266Leu) rs145594612 0.00010
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530 0.00009
NM_013382.7(POMT2):c.1978G>T (p.Val660Phe) rs200690151 0.00009
NM_013382.7(POMT2):c.424A>G (p.Met142Val) rs148938943 0.00009
NM_013382.7(POMT2):c.700G>A (p.Val234Ile) rs576822260 0.00009
NM_013382.7(POMT2):c.844C>T (p.Arg282Cys) rs200204831 0.00009
NM_017739.4(POMGNT1):c.1825C>T (p.Arg609Trp) rs145736350 0.00009
NM_017739.4(POMGNT1):c.958C>T (p.Arg320Cys) rs373777515 0.00009
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His) rs147601415 0.00008
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu) rs374381691 0.00008
NM_013382.7(POMT2):c.1141T>C (p.Tyr381His) rs369489033 0.00008
NM_013382.7(POMT2):c.133C>T (p.Pro45Ser) rs780976004 0.00008
NM_013382.7(POMT2):c.1386A>C (p.Lys462Asn) rs567557121 0.00008
NM_013382.7(POMT2):c.29C>T (p.Ala10Val) rs183558313 0.00008
NM_021971.4(GMPPB):c.304G>C (p.Asp102His) rs368542417 0.00008
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met) rs201220016 0.00007
NM_001077365.2(POMT1):c.367G>T (p.Val123Leu) rs1424629668 0.00007
NM_001077365.2(POMT1):c.986+5G>A rs370096853 0.00007
NM_013382.7(POMT2):c.1552G>A (p.Val518Met) rs200762716 0.00007
NM_133642.5(LARGE1):c.119T>C (p.Val40Ala) rs148383806 0.00007
NM_133642.5(LARGE1):c.1277A>C (p.Asn426Thr) rs369552267 0.00007
NM_133642.5(LARGE1):c.857G>A (p.Arg286His) rs200035534 0.00007
NM_001077365.2(POMT1):c.1163G>A (p.Arg388His) rs138640226 0.00006
NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val) rs369651101 0.00006
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559 0.00006
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133 0.00006
NM_001077365.2(POMT1):c.332C>T (p.Ala111Val) rs371531181 0.00006
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380 0.00006
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304 0.00006
NM_013382.7(POMT2):c.1396C>T (p.Arg466Trp) rs763119319 0.00006
NM_013382.7(POMT2):c.1485-3C>T rs754892193 0.00006
NM_013382.7(POMT2):c.1871G>A (p.Arg624Gln) rs369365744 0.00006
NM_013382.7(POMT2):c.1936G>A (p.Gly646Ser) rs767592155 0.00006
NM_013382.7(POMT2):c.640A>C (p.Asn214His) rs376485603 0.00006
NM_017739.4(POMGNT1):c.1539C>T (p.His513=) rs569297597 0.00006
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln) rs371741722 0.00006
NM_017739.4(POMGNT1):c.188G>A (p.Arg63Gln) rs141421141 0.00006
NM_017739.4(POMGNT1):c.986C>T (p.Ser329Phe) rs772102300 0.00006
NM_021971.4(GMPPB):c.554G>A (p.Arg185His) rs755165049 0.00006
NM_021971.4(GMPPB):c.869C>T (p.Thr290Met) rs139668958 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.633G>A (p.Ser211=) rs921883036 0.00006
NM_133642.5(LARGE1):c.*186C>T rs780030367 0.00006
NM_133642.5(LARGE1):c.-242C>T rs886057462 0.00006
NM_133642.5(LARGE1):c.-277T>G rs886057464 0.00006
NM_133642.5(LARGE1):c.-287A>G rs886057465 0.00006
NM_133642.5(LARGE1):c.-83+63184A>C rs759992064 0.00006
NM_133642.5(LARGE1):c.118G>A (p.Val40Met) rs188675457 0.00006
NM_133642.5(LARGE1):c.131C>T (p.Pro44Leu) rs143437080 0.00006
NM_133642.5(LARGE1):c.1521C>A (p.Asp507Glu) rs1312649028 0.00006
NM_133642.5(LARGE1):c.1928G>A (p.Arg643Gln) rs151199006 0.00006
NM_133642.5(LARGE1):c.2255C>G (p.Ala752Gly) rs200024875 0.00006
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu) rs149747266 0.00006
NM_133642.5(LARGE1):c.99C>T (p.Ser33=) rs377353667 0.00006
NM_001077365.2(POMT1):c.1444G>A (p.Gly482Arg) rs372354077 0.00005
NM_001077365.2(POMT1):c.1565C>T (p.Ala522Val) rs374402055 0.00005
NM_001077365.2(POMT1):c.1823A>G (p.Gln608Arg) rs145021255 0.00005
NM_001077365.2(POMT1):c.389A>C (p.His130Pro) rs752880907 0.00005
NM_001077365.2(POMT1):c.425T>C (p.Ile142Thr) rs746950128 0.00005
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) rs886042627 0.00005
NM_001079802.2(FKTN):c.*954T>A rs886063323 0.00005
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939 0.00005
NM_013382.7(POMT2):c.1124C>T (p.Thr375Ile) rs542912704 0.00005
NM_013382.7(POMT2):c.1127A>G (p.Tyr376Cys) rs1180170796 0.00005
NM_013382.7(POMT2):c.1733G>A (p.Arg578His) rs571330846 0.00005
NM_013382.7(POMT2):c.621G>A (p.Met207Ile) rs551885065 0.00005
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr) rs746638187 0.00005
NM_021971.4(GMPPB):c.160A>C (p.Ser54Arg) rs145671483 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_133642.5(LARGE1):c.1389C>T (p.Tyr463=) rs115686643 0.00005
NM_133642.5(LARGE1):c.2213T>C (p.Met738Thr) rs776954687 0.00005
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg) rs376882399 0.00004
NM_001077365.2(POMT1):c.1485G>A (p.Ala495=) rs142211950 0.00004
NM_001077365.2(POMT1):c.1511G>A (p.Arg504Gln) rs370705614 0.00004
NM_001077365.2(POMT1):c.1795C>T (p.Arg599Trp) rs150899645 0.00004
NM_001077365.2(POMT1):c.1990G>A (p.Asp664Asn) rs145635821 0.00004
NM_001077365.2(POMT1):c.2132C>T (p.Ala711Val) rs769694503 0.00004
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) rs202202445 0.00004
NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe) rs141833028 0.00004
NM_001077365.2(POMT1):c.620G>A (p.Gly207Asp) rs765733801 0.00004
NM_001079802.2(FKTN):c.*1175C>T rs996474083 0.00004
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) rs146272618 0.00004
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010 0.00004
NM_013382.7(POMT2):c.1081C>T (p.Leu361Phe) rs771509741 0.00004
NM_013382.7(POMT2):c.1106G>A (p.Arg369His) rs398124260 0.00004
NM_013382.7(POMT2):c.1142A>G (p.Tyr381Cys) rs375840897 0.00004
NM_013382.7(POMT2):c.128A>G (p.Lys43Arg) rs745417690 0.00004
NM_013382.7(POMT2):c.1700C>T (p.Pro567Leu) rs376689848 0.00004
NM_013382.7(POMT2):c.1732C>T (p.Arg578Cys) rs148466370 0.00004
NM_013382.7(POMT2):c.1785G>A (p.Pro595=) rs202237807 0.00004
NM_013382.7(POMT2):c.1913G>A (p.Arg638Gln) rs779390236 0.00004
NM_013382.7(POMT2):c.41T>C (p.Leu14Pro) rs777504929 0.00004
NM_013382.7(POMT2):c.61T>C (p.Cys21Arg) rs767316912 0.00004
NM_013382.7(POMT2):c.631G>A (p.Val211Ile) rs373139592 0.00004
NM_017739.4(POMGNT1):c.1195G>A (p.Ala399Thr) rs1276215978 0.00004
NM_017739.4(POMGNT1):c.1568A>G (p.Asn523Ser) rs372610527 0.00004
NM_017739.4(POMGNT1):c.1571C>T (p.Thr524Met) rs769180238 0.00004
NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr) rs374401585 0.00004
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074 0.00004
NM_017739.4(POMGNT1):c.208G>A (p.Glu70Lys) rs201361648 0.00004
NM_017739.4(POMGNT1):c.268C>T (p.Arg90Cys) rs144959783 0.00004
NM_017739.4(POMGNT1):c.354+3C>T rs372425155 0.00004
NM_017739.4(POMGNT1):c.772G>A (p.Asp258Asn) rs143736961 0.00004
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) rs749109905 0.00004
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348 0.00004
NM_133642.5(LARGE1):c.*566G>A rs878945156 0.00004
NM_133642.5(LARGE1):c.1287C>T (p.Asn429=) rs561439887 0.00004
NM_133642.5(LARGE1):c.1349G>A (p.Arg450His) rs371071263 0.00004
NM_133642.5(LARGE1):c.1413C>A (p.Ser471Arg) rs376160270 0.00004
NM_133642.5(LARGE1):c.1597A>G (p.Ile533Val) rs566107119 0.00004
NM_133642.5(LARGE1):c.221A>C (p.Glu74Ala) rs751789128 0.00004
NM_133642.5(LARGE1):c.2222G>A (p.Arg741His) rs747003834 0.00004
NM_133642.5(LARGE1):c.2257G>A (p.Glu753Lys) rs139853494 0.00004
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln) rs763697782 0.00004
NM_133642.5(LARGE1):c.533C>T (p.Ala178Val) rs377460238 0.00004
NM_133642.5(LARGE1):c.923G>A (p.Arg308Gln) rs773959791 0.00004
NM_001077365.2(POMT1):c.1052A>G (p.Asn351Ser) rs756531223 0.00003
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn) rs141229412 0.00003
NM_001077365.2(POMT1):c.1366-11G>A rs1157478556 0.00003
NM_001077365.2(POMT1):c.202T>C (p.Phe68Leu) rs138433752 0.00003
NM_001077365.2(POMT1):c.2032G>A (p.Ala678Thr) rs747903773 0.00003
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) rs200179598 0.00003
NM_001077365.2(POMT1):c.328C>T (p.Leu110Phe) rs1338443127 0.00003
NM_001077365.2(POMT1):c.634G>A (p.Val212Met) rs746119386 0.00003
NM_001077365.2(POMT1):c.699+72T>C rs200780140 0.00003
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) rs772590277 0.00003
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys) rs765934383 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.703C>A (p.Pro235Thr) rs373418195 0.00003
NM_013382.7(POMT2):c.1121C>G (p.Thr374Ser) rs973161535 0.00003
NM_013382.7(POMT2):c.1135A>G (p.Lys379Glu) rs777172630 0.00003
NM_013382.7(POMT2):c.1653+4T>G rs555289061 0.00003
NM_013382.7(POMT2):c.1725+4G>A rs758851815 0.00003
NM_013382.7(POMT2):c.2072G>T (p.Gly691Val) rs758678348 0.00003
NM_013382.7(POMT2):c.599T>C (p.Met200Thr) rs921045202 0.00003
NM_013382.7(POMT2):c.769A>G (p.Thr257Ala) rs371988132 0.00003
NM_013382.7(POMT2):c.925G>A (p.Gly309Ser) rs376046816 0.00003
NM_017739.4(POMGNT1):c.1030C>T (p.Pro344Ser) rs755454684 0.00003
NM_017739.4(POMGNT1):c.1230C>G (p.Ile410Met) rs756026992 0.00003
NM_017739.4(POMGNT1):c.1933G>C (p.Glu645Gln) rs778115320 0.00003
NM_017739.4(POMGNT1):c.287G>C (p.Arg96Pro) rs200227264 0.00003
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser) rs375420073 0.00003
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His) rs776165339 0.00003
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp) rs34058684 0.00003
NM_017739.4(POMGNT1):c.565G>T (p.Ala189Ser) rs949714416 0.00003
NM_017739.4(POMGNT1):c.652+8C>T rs778376741 0.00003
NM_017739.4(POMGNT1):c.788G>A (p.Arg263His) rs146078296 0.00003
NM_017739.4(POMGNT1):c.888C>A (p.Asp296Glu) rs369970994 0.00003
NM_021971.4(GMPPB):c.449A>T (p.Glu150Val) rs1185784683 0.00003
NM_021971.4(GMPPB):c.812A>G (p.Asn271Ser) rs370840899 0.00003
NM_021971.4(GMPPB):c.937C>T (p.Arg313Cys) rs144421130 0.00003
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile) rs369666163 0.00003
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys) rs201951207 0.00003
NM_133642.5(LARGE1):c.*580C>T rs776235903 0.00003
NM_133642.5(LARGE1):c.*833A>G rs748248240 0.00003
NM_133642.5(LARGE1):c.*969G>A rs892305427 0.00003
NM_133642.5(LARGE1):c.-47C>T rs775356534 0.00003
NM_133642.5(LARGE1):c.1677G>A (p.Met559Ile) rs376455063 0.00003
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=) rs759427879 0.00003
NM_133642.5(LARGE1):c.239G>T (p.Arg80Leu) rs761004017 0.00003
NM_133642.5(LARGE1):c.266G>A (p.Arg89Gln) rs142272515 0.00003
NM_133642.5(LARGE1):c.551C>T (p.Thr184Met) rs138676820 0.00003
NM_133642.5(LARGE1):c.607G>A (p.Glu203Lys) rs776803926 0.00003
NM_001077365.2(POMT1):c.1109C>T (p.Pro370Leu) rs376258733 0.00002
NM_001077365.2(POMT1):c.1127G>A (p.Gly376Glu) rs761293717 0.00002
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys) rs752384050 0.00002
NM_001077365.2(POMT1):c.1432C>T (p.Arg478Trp) rs763756593 0.00002
NM_001077365.2(POMT1):c.1510C>T (p.Arg504Trp) rs151183697 0.00002
NM_001077365.2(POMT1):c.1627T>C (p.Tyr543His) rs1192384406 0.00002
NM_001077365.2(POMT1):c.1698+6C>T rs180847856 0.00002
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val) rs749978093 0.00002
NM_001077365.2(POMT1):c.1739C>T (p.Ser580Leu) rs755804404 0.00002
NM_001077365.2(POMT1):c.1763A>G (p.Tyr588Cys) rs772131719 0.00002
NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr) rs773190071 0.00002
NM_001077365.2(POMT1):c.2027T>C (p.Phe676Ser) rs1201402718 0.00002
NM_001077365.2(POMT1):c.2084G>A (p.Arg695His) rs373402995 0.00002
NM_001077365.2(POMT1):c.2114C>T (p.Ser705Leu) rs747343582 0.00002
NM_001077365.2(POMT1):c.247G>A (p.Asp83Asn) rs530211718 0.00002
NM_001077365.2(POMT1):c.401T>C (p.Met134Thr) rs780170650 0.00002
NM_001077365.2(POMT1):c.559T>C (p.Trp187Arg) rs919881583 0.00002
NM_001077365.2(POMT1):c.640G>A (p.Val214Met) rs778740383 0.00002
NM_001077365.2(POMT1):c.699+14T>A rs370038491 0.00002
NM_001077365.2(POMT1):c.699+27G>A rs374516244 0.00002
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn) rs754611085 0.00002
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr) rs772840681 0.00002
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.1006C>T (p.His336Tyr) rs765103940 0.00002
NM_013382.7(POMT2):c.1018G>A (p.Gly340Ser) rs778014493 0.00002
NM_013382.7(POMT2):c.1046G>A (p.Arg349Gln) rs756055923 0.00002
NM_013382.7(POMT2):c.1105C>T (p.Arg369Cys) rs779190087 0.00002
NM_013382.7(POMT2):c.1192G>C (p.Asp398His) rs145933402 0.00002
NM_013382.7(POMT2):c.1300C>T (p.Arg434Trp) rs768256055 0.00002
NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln) rs757110456 0.00002
NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp) rs751153662 0.00002
NM_013382.7(POMT2):c.1653+5G>T rs755390432 0.00002
NM_013382.7(POMT2):c.1711C>T (p.Pro571Ser) rs771812476 0.00002
NM_013382.7(POMT2):c.1927G>C (p.Val643Leu) rs966965226 0.00002
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 0.00002
NM_013382.7(POMT2):c.512C>T (p.Ser171Leu) rs750346960 0.00002
NM_013382.7(POMT2):c.807T>G (p.Ser269Arg) rs755782894 0.00002
NM_013382.7(POMT2):c.856C>T (p.Leu286Phe) rs375363915 0.00002
NM_013382.7(POMT2):c.886G>A (p.Ala296Thr) rs762885008 0.00002
NM_017739.4(POMGNT1):c.1027-5C>G rs779435288 0.00002
NM_017739.4(POMGNT1):c.106C>T (p.Arg36Trp) rs774633618 0.00002
NM_017739.4(POMGNT1):c.1142A>G (p.Asn381Ser) rs140846775 0.00002
NM_017739.4(POMGNT1):c.130G>A (p.Val44Met) rs764388322 0.00002
NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln) rs753030030 0.00002
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln) rs766382416 0.00002
NM_017739.4(POMGNT1):c.1783A>G (p.Lys595Glu) rs797045896 0.00002
NM_017739.4(POMGNT1):c.185G>C (p.Arg62Pro) rs779506923 0.00002
NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly) rs751402236 0.00002
NM_017739.4(POMGNT1):c.286C>T (p.Arg96Trp) rs770834730 0.00002
NM_017739.4(POMGNT1):c.427G>A (p.Val143Met) rs755885722 0.00002
NM_017739.4(POMGNT1):c.584G>A (p.Ser195Asn) rs917194053 0.00002
NM_017739.4(POMGNT1):c.614G>A (p.Gly205Asp) rs1188660252 0.00002
NM_017739.4(POMGNT1):c.644G>A (p.Arg215Gln) rs770634205 0.00002
NM_017739.4(POMGNT1):c.753G>T (p.Glu251Asp) rs751316371 0.00002
NM_017739.4(POMGNT1):c.800G>A (p.Arg267His) rs756234628 0.00002
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser) rs200863680 0.00002
NM_017739.4(POMGNT1):c.879+3G>A rs1411537744 0.00002
NM_017739.4(POMGNT1):c.879A>C (p.Pro293=) rs776248221 0.00002
NM_017739.4(POMGNT1):c.910G>A (p.Val304Met) rs765980130 0.00002
NM_021971.4(GMPPB):c.1016A>G (p.Asn339Ser) rs753014812 0.00002
NM_021971.4(GMPPB):c.727C>T (p.Arg243Trp) rs771028755 0.00002
NM_021971.4(GMPPB):c.893G>A (p.Arg298His) rs766498097 0.00002
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys) rs371188899 0.00002
NM_024301.5(FKRP):c.434T>G (p.Val145Gly) rs745681948 0.00002
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala) rs921829148 0.00002
NM_133642.5(LARGE1):c.1132-3C>G rs755662032 0.00002
NM_133642.5(LARGE1):c.1241G>A (p.Arg414Gln) rs200603479 0.00002
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=) rs772615481 0.00002
NM_133642.5(LARGE1):c.1340G>A (p.Arg447Gln) rs139603473 0.00002
NM_133642.5(LARGE1):c.1544G>A (p.Arg515His) rs368030516 0.00002
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461 0.00002
NM_133642.5(LARGE1):c.1839G>T (p.Leu613Phe) rs745392097 0.00002
NM_133642.5(LARGE1):c.1885G>A (p.Val629Ile) rs547202997 0.00002
NM_133642.5(LARGE1):c.2070G>A (p.Val690=) rs771631103 0.00002
NM_133642.5(LARGE1):c.2264A>G (p.Asn755Ser) rs755283207 0.00002
NM_133642.5(LARGE1):c.424A>G (p.Ile142Val) rs199906790 0.00002
NM_133642.5(LARGE1):c.590A>C (p.Asp197Ala) rs765069383 0.00002
NM_001077365.2(POMT1):c.1036C>T (p.Pro346Ser) rs1353274622 0.00001
NM_001077365.2(POMT1):c.1063A>G (p.Ile355Val) rs749853448 0.00001
NM_001077365.2(POMT1):c.1074T>A (p.Asp358Glu) rs765263668 0.00001
NM_001077365.2(POMT1):c.1129G>A (p.Asp377Asn) rs886044066 0.00001
NM_001077365.2(POMT1):c.1193C>T (p.Pro398Leu) rs776388419 0.00001
NM_001077365.2(POMT1):c.1331G>A (p.Arg444His) rs758736387 0.00001
NM_001077365.2(POMT1):c.1354G>A (p.Ala452Thr) rs150702948 0.00001
NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile) rs1008021925 0.00001
NM_001077365.2(POMT1):c.1414G>A (p.Val472Ile) rs943420374 0.00001
NM_001077365.2(POMT1):c.1433G>A (p.Arg478Gln) rs1386572159 0.00001
NM_001077365.2(POMT1):c.1462G>A (p.Val488Met) rs748365119 0.00001
NM_001077365.2(POMT1):c.1480G>A (p.Gly494Ser) rs200204923 0.00001
NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val) rs761439623 0.00001
NM_001077365.2(POMT1):c.1490_1498del (p.Gln497_Gln499del) rs763262424 0.00001
NM_001077365.2(POMT1):c.1505G>A (p.Arg502Gln) rs1174599967 0.00001
NM_001077365.2(POMT1):c.1548G>C (p.Arg516Ser) rs1471379936 0.00001
NM_001077365.2(POMT1):c.1574C>T (p.Ser525Leu) rs1018748368 0.00001
NM_001077365.2(POMT1):c.1616C>T (p.Ser539Leu) rs754907726 0.00001
NM_001077365.2(POMT1):c.1765G>A (p.Ala589Thr) rs747138675 0.00001
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln) rs367709136 0.00001
NM_001077365.2(POMT1):c.1825+6T>C rs1366898427 0.00001
NM_001077365.2(POMT1):c.1837C>T (p.Arg613Cys) rs759135168 0.00001
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) rs756303645 0.00001
NM_001077365.2(POMT1):c.2003+4C>T rs766635497 0.00001
NM_001077365.2(POMT1):c.2068G>A (p.Val690Met) rs150209587 0.00001
NM_001077365.2(POMT1):c.2078C>T (p.Thr693Met) rs767241035 0.00001
NM_001077365.2(POMT1):c.2096A>G (p.Tyr699Cys) rs754444374 0.00001
NM_001077365.2(POMT1):c.2123A>T (p.Glu708Val) rs975505270 0.00001
NM_001077365.2(POMT1):c.301G>C (p.Val101Leu) rs199552424 0.00001
NM_001077365.2(POMT1):c.499G>A (p.Val167Met) rs757875244 0.00001
NM_001077365.2(POMT1):c.516G>T (p.Lys172Asn) rs1439661209 0.00001
NM_001077365.2(POMT1):c.52A>C (p.Ser18Arg) rs779386306 0.00001
NM_001077365.2(POMT1):c.539+3A>G rs780457748 0.00001
NM_001077365.2(POMT1):c.572C>T (p.Thr191Ile) rs1344992449 0.00001
NM_001077365.2(POMT1):c.614A>G (p.Tyr205Cys) rs1312643563 0.00001
NM_001077365.2(POMT1):c.650T>G (p.Val217Gly) rs1364769689 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001077365.2(POMT1):c.699+32C>T rs201225383 0.00001
NM_001077365.2(POMT1):c.700G>A (p.Val234Ile) rs755248350 0.00001
NM_001077365.2(POMT1):c.721C>G (p.Leu241Val) rs374335795 0.00001
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679 0.00001
NM_001077365.2(POMT1):c.86G>T (p.Ser29Ile) rs771234098 0.00001
NM_001077365.2(POMT1):c.908C>T (p.Ser303Phe) rs1415622281 0.00001
NM_001077365.2(POMT1):c.917C>T (p.Thr306Ile) rs1377535146 0.00001
NM_001077365.2(POMT1):c.934G>A (p.Gly312Arg) rs1428763564 0.00001
NM_001079802.2(FKTN):c.*5003T>G rs886063340 0.00001
NM_001079802.2(FKTN):c.*5161C>T rs886063341 0.00001
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser) rs727502849 0.00001
NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg) rs1833937117 0.00001
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs) rs775366895 0.00001
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys) rs150591365 0.00001
NM_001079802.2(FKTN):c.526T>G (p.Phe176Val) rs746813994 0.00001
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499 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_013382.7(POMT2):c.101C>T (p.Ala34Val) rs768585252 0.00001
NM_013382.7(POMT2):c.1033G>C (p.Val345Leu) rs779053591 0.00001
NM_013382.7(POMT2):c.1042C>G (p.Leu348Val) rs1158227625 0.00001
NM_013382.7(POMT2):c.1061A>C (p.Tyr354Ser) rs751206357 0.00001
NM_013382.7(POMT2):c.1094G>A (p.Gly365Asp) rs139830891 0.00001
NM_013382.7(POMT2):c.1116+4A>G rs779844724 0.00001
NM_013382.7(POMT2):c.1183+6G>C rs1381239018 0.00001
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser) rs764723711 0.00001
NM_013382.7(POMT2):c.1229A>T (p.Asp410Val) rs886043224 0.00001
NM_013382.7(POMT2):c.125C>T (p.Pro42Leu) rs912884835 0.00001
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr) rs774466835 0.00001
NM_013382.7(POMT2):c.1332+4A>G rs1201960470 0.00001
NM_013382.7(POMT2):c.1418G>A (p.Arg473Gln) rs1279458453 0.00001
NM_013382.7(POMT2):c.1424G>A (p.Arg475His) rs200976246 0.00001
NM_013382.7(POMT2):c.1433A>G (p.His478Arg) rs765346043 0.00001
NM_013382.7(POMT2):c.1451T>C (p.Val484Ala) rs761917543 0.00001
NM_013382.7(POMT2):c.1497G>C (p.Gln499His) rs141248257 0.00001
NM_013382.7(POMT2):c.1528G>A (p.Glu510Lys) rs186872560 0.00001
NM_013382.7(POMT2):c.1609A>G (p.Ser537Gly) rs1340953706 0.00001
NM_013382.7(POMT2):c.160G>T (p.Ala54Ser) rs1239345534 0.00001
NM_013382.7(POMT2):c.1667T>C (p.Leu556Pro) rs1890178559 0.00001
NM_013382.7(POMT2):c.1681A>G (p.Asn561Asp) rs1006561976 0.00001
NM_013382.7(POMT2):c.1769A>G (p.Tyr590Cys) rs1566644163 0.00001
NM_013382.7(POMT2):c.1790T>C (p.Val597Ala) rs1171196217 0.00001
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp) rs749335757 0.00001
NM_013382.7(POMT2):c.1877C>T (p.Pro626Leu) rs1262591820 0.00001
NM_013382.7(POMT2):c.1961T>G (p.Phe654Cys) rs769782374 0.00001
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp) rs372939905 0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) rs770606360 0.00001
NM_013382.7(POMT2):c.2011C>T (p.Leu671Phe) rs200079313 0.00001
NM_013382.7(POMT2):c.2087C>T (p.Pro696Leu) rs1449000965 0.00001
NM_013382.7(POMT2):c.209C>T (p.Ala70Val) rs1891834567 0.00001
NM_013382.7(POMT2):c.20G>A (p.Gly7Glu) rs763325075 0.00001
NM_013382.7(POMT2):c.2108T>C (p.Val703Ala) rs770189006 0.00001
NM_013382.7(POMT2):c.2111C>T (p.Ala704Val) rs746221148 0.00001
NM_013382.7(POMT2):c.2116A>G (p.Ile706Val) rs1352547589 0.00001
NM_013382.7(POMT2):c.2147+5G>C rs1360206873 0.00001
NM_013382.7(POMT2):c.2171C>T (p.Ala724Val) rs1413994990 0.00001
NM_013382.7(POMT2):c.2176G>A (p.Gly726Arg) rs1471500386 0.00001
NM_013382.7(POMT2):c.224G>A (p.Arg75His) rs1200964688 0.00001
NM_013382.7(POMT2):c.227T>C (p.Leu76Ser) rs1349494437 0.00001
NM_013382.7(POMT2):c.244A>T (p.Ile82Phe) rs373944477 0.00001
NM_013382.7(POMT2):c.245T>A (p.Ile82Asn) rs563863191 0.00001
NM_013382.7(POMT2):c.248+20C>G rs1471456899 0.00001
NM_013382.7(POMT2):c.25C>G (p.Leu9Val) rs1280735533 0.00001
NM_013382.7(POMT2):c.275T>C (p.Met92Thr) rs775489616 0.00001
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys) rs199719668 0.00001
NM_013382.7(POMT2):c.37G>A (p.Glu13Lys) rs747244194 0.00001
NM_013382.7(POMT2):c.47C>G (p.Pro16Arg) rs778898705 0.00001
NM_013382.7(POMT2):c.485C>T (p.Thr162Ile) rs753521608 0.00001
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro) rs753326186 0.00001
NM_013382.7(POMT2):c.593T>A (p.Ile198Asn) rs267606972 0.00001
NM_013382.7(POMT2):c.613G>A (p.Ala205Thr) rs886043765 0.00001
NM_013382.7(POMT2):c.661T>A (p.Phe221Ile) rs746803006 0.00001
NM_013382.7(POMT2):c.671C>G (p.Pro224Arg) rs771995900 0.00001
NM_013382.7(POMT2):c.685C>T (p.Leu229Phe) rs754512099 0.00001
NM_013382.7(POMT2):c.756A>G (p.Gln252=) rs766529891 0.00001
NM_013382.7(POMT2):c.845G>A (p.Arg282His) rs756132642 0.00001
NM_013382.7(POMT2):c.890C>T (p.Thr297Ile) rs775548781 0.00001
NM_013382.7(POMT2):c.961G>A (p.Ala321Thr) rs770147545 0.00001
NM_017739.4(POMGNT1):c.1000A>G (p.Thr334Ala) rs1267806554 0.00001
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln) rs768700187 0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_017739.4(POMGNT1):c.1102G>A (p.Val368Met) rs1332597566 0.00001
NM_017739.4(POMGNT1):c.110G>T (p.Arg37Ile) rs144746222 0.00001
NM_017739.4(POMGNT1):c.1110+9T>C rs1553163359 0.00001
NM_017739.4(POMGNT1):c.1151C>T (p.Pro384Leu) rs375845761 0.00001
NM_017739.4(POMGNT1):c.1152G>A (p.Pro384=) rs760312462 0.00001
NM_017739.4(POMGNT1):c.1157C>T (p.Ala386Val) rs778179887 0.00001
NM_017739.4(POMGNT1):c.1192A>G (p.Ile398Val) rs1460430901 0.00001
NM_017739.4(POMGNT1):c.1198G>C (p.Val400Leu) rs749863346 0.00001
NM_017739.4(POMGNT1):c.120+6G>C rs1344774466 0.00001
NM_017739.4(POMGNT1):c.1284+5G>T rs1257224073 0.00001
NM_017739.4(POMGNT1):c.137T>C (p.Phe46Ser) rs1314508009 0.00001
NM_017739.4(POMGNT1):c.1409A>G (p.Glu470Gly) rs781221088 0.00001
NM_017739.4(POMGNT1):c.1438C>T (p.Arg480Trp) rs1011150724 0.00001
NM_017739.4(POMGNT1):c.1439G>A (p.Arg480Gln) rs779428703 0.00001
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562 0.00001
NM_017739.4(POMGNT1):c.1561A>G (p.Lys521Glu) rs764394085 0.00001
NM_017739.4(POMGNT1):c.157G>A (p.Val53Ile) rs766383336 0.00001
NM_017739.4(POMGNT1):c.160A>G (p.Asn54Asp) rs546654268 0.00001
NM_017739.4(POMGNT1):c.1632A>C (p.Glu544Asp) rs149482430 0.00001
NM_017739.4(POMGNT1):c.1669C>A (p.His557Asn) rs761426941 0.00001
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile) rs556069604 0.00001
NM_017739.4(POMGNT1):c.172A>G (p.Ile58Val) rs886044042 0.00001
NM_017739.4(POMGNT1):c.1780G>T (p.Ala594Ser) rs749960797 0.00001
NM_017739.4(POMGNT1):c.181A>G (p.Thr61Ala) rs768245322 0.00001
NM_017739.4(POMGNT1):c.1847G>A (p.Arg616Gln) rs775534917 0.00001
NM_017739.4(POMGNT1):c.1865T>C (p.Leu622Pro) rs377170894 0.00001
NM_017739.4(POMGNT1):c.1880C>T (p.Pro627Leu) rs200143169 0.00001
NM_017739.4(POMGNT1):c.1906C>T (p.Pro636Ser) rs771922809 0.00001
NM_017739.4(POMGNT1):c.1910C>T (p.Pro637Leu) rs1467007123 0.00001
NM_017739.4(POMGNT1):c.1975C>T (p.Gln659Ter) rs766290773 0.00001
NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys) rs1238403887 0.00001
NM_017739.4(POMGNT1):c.304G>A (p.Glu102Lys) rs749603354 0.00001
NM_017739.4(POMGNT1):c.313T>C (p.Ser105Pro) rs780158040 0.00001
NM_017739.4(POMGNT1):c.325A>G (p.Lys109Glu) rs1459243404 0.00001
NM_017739.4(POMGNT1):c.330A>G (p.Val110=) rs1658269711 0.00001
NM_017739.4(POMGNT1):c.358C>G (p.Leu120Val) rs373016708 0.00001
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln) rs770188918 0.00001
NM_017739.4(POMGNT1):c.418A>G (p.Thr140Ala) rs886042796 0.00001
NM_017739.4(POMGNT1):c.439C>T (p.Arg147Cys) rs780641373 0.00001
NM_017739.4(POMGNT1):c.442G>T (p.Val148Leu) rs770366321 0.00001
NM_017739.4(POMGNT1):c.452C>T (p.Thr151Met) rs886044363 0.00001
NM_017739.4(POMGNT1):c.478A>G (p.Met160Val) rs1355389149 0.00001
NM_017739.4(POMGNT1):c.503C>T (p.Ala168Val) rs200643988 0.00001
NM_017739.4(POMGNT1):c.553C>G (p.Leu185Val) rs757919524 0.00001
NM_017739.4(POMGNT1):c.562A>G (p.Thr188Ala) rs868433749 0.00001
NM_017739.4(POMGNT1):c.637G>A (p.Val213Met) rs1239939744 0.00001
NM_017739.4(POMGNT1):c.652+5C>T rs771669680 0.00001
NM_017739.4(POMGNT1):c.677C>T (p.Ser226Phe) rs147938876 0.00001
NM_017739.4(POMGNT1):c.691C>G (p.Leu231Val) rs771429702 0.00001
NM_017739.4(POMGNT1):c.712G>C (p.Val238Leu) rs755032396 0.00001
NM_017739.4(POMGNT1):c.751+4G>C rs768307488 0.00001
NM_017739.4(POMGNT1):c.758A>T (p.Glu253Val) rs886043972 0.00001
NM_017739.4(POMGNT1):c.790C>T (p.Arg264Cys) rs369306680 0.00001
NM_017739.4(POMGNT1):c.791G>A (p.Arg264His) rs748559972 0.00001
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys) rs774752168 0.00001
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys) rs148131756 0.00001
NM_017739.4(POMGNT1):c.813A>C (p.Lys271Asn) rs757156888 0.00001
NM_017739.4(POMGNT1):c.824A>G (p.Tyr275Cys) rs200789546 0.00001
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys) rs1476814352 0.00001
NM_017739.4(POMGNT1):c.889A>G (p.Asn297Asp) rs752393375 0.00001
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser) rs754653320 0.00001
NM_017739.4(POMGNT1):c.908C>T (p.Pro303Leu) rs753453050 0.00001
NM_017739.4(POMGNT1):c.921T>G (p.Ile307Met) rs71653997 0.00001
NM_017739.4(POMGNT1):c.926G>A (p.Gly309Glu) rs752124301 0.00001
NM_017739.4(POMGNT1):c.959G>A (p.Arg320His) rs368653589 0.00001
NM_017739.4(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589 0.00001
NM_017739.4(POMGNT1):c.979G>A (p.Gly327Arg) rs1306444778 0.00001
NM_017739.4(POMGNT1):c.988C>T (p.Pro330Ser) rs748027760 0.00001
NM_021971.4(GMPPB):c.1027G>C (p.Val343Leu) rs1409825474 0.00001
NM_021971.4(GMPPB):c.118G>C (p.Ala40Pro) rs1445731992 0.00001
NM_021971.4(GMPPB):c.210G>A (p.Arg70=) rs201795833 0.00001
NM_021971.4(GMPPB):c.215G>C (p.Gly72Ala) rs1245162935 0.00001
NM_021971.4(GMPPB):c.356C>A (p.Ala119Asp) rs1272084445 0.00001
NM_021971.4(GMPPB):c.478G>A (p.Val160Met) rs752805529 0.00001
NM_021971.4(GMPPB):c.572C>T (p.Thr191Met) rs146287156 0.00001
NM_021971.4(GMPPB):c.578T>C (p.Ile193Thr) rs780301264 0.00001
NM_021971.4(GMPPB):c.596C>G (p.Pro199Arg) rs765573379 0.00001
NM_021971.4(GMPPB):c.629T>C (p.Met210Thr) rs759137392 0.00001
NM_021971.4(GMPPB):c.70C>T (p.Pro24Ser) rs1310563727 0.00001
NM_021971.4(GMPPB):c.728G>A (p.Arg243Gln) rs749730219 0.00001
NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys) rs746357591 0.00001
NM_021971.4(GMPPB):c.870G>A (p.Thr290=) rs778490288 0.00001
NM_021971.4(GMPPB):c.877C>T (p.Arg293Trp) rs756682220 0.00001
NM_021971.4(GMPPB):c.910G>A (p.Glu304Lys) rs762995747 0.00001
NM_021971.4(GMPPB):c.938G>A (p.Arg313His) rs775910135 0.00001
NM_021971.4(GMPPB):c.982G>A (p.Glu328Lys) rs1356812347 0.00001
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) rs1322997651 0.00001
NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu) rs781414509 0.00001
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser) rs1184684815 0.00001
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile) rs1471167981 0.00001
NM_024301.5(FKRP):c.119G>A (p.Arg40His) rs2054891509 0.00001
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser) rs376989573 0.00001
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu) rs886044542 0.00001
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) rs747785577 0.00001
NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg) rs373244438 0.00001
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) rs990847012 0.00001
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser) rs1164727838 0.00001
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp) rs398124392 0.00001
NM_024301.5(FKRP):c.551C>T (p.Ala184Val) rs1489408026 0.00001
NM_024301.5(FKRP):c.706C>G (p.Leu236Val) rs754347622 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.962C>A (p.Ala321Glu) rs745882222 0.00001
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936 0.00001
NM_133642.5(LARGE1):c.*1229G>A rs918504034 0.00001
NM_133642.5(LARGE1):c.-359C>G rs886057468 0.00001
NM_133642.5(LARGE1):c.-500T>C rs968923312 0.00001
NM_133642.5(LARGE1):c.-527C>T rs956387343 0.00001
NM_133642.5(LARGE1):c.1005+15T>G rs1414312676 0.00001
NM_133642.5(LARGE1):c.106+6A>C rs746650831 0.00001
NM_133642.5(LARGE1):c.1229A>G (p.Asn410Ser) rs199912424 0.00001
NM_133642.5(LARGE1):c.1299G>T (p.Gln433His) rs1463323644 0.00001
NM_133642.5(LARGE1):c.1331A>G (p.Tyr444Cys) rs748074253 0.00001
NM_133642.5(LARGE1):c.1390G>A (p.Glu464Lys) rs772985451 0.00001
NM_133642.5(LARGE1):c.1415C>T (p.Thr472Met) rs779725828 0.00001
NM_133642.5(LARGE1):c.1432G>A (p.Ala478Thr) rs778360056 0.00001
NM_133642.5(LARGE1):c.1501C>G (p.Leu501Val) rs966974831 0.00001
NM_133642.5(LARGE1):c.1585G>A (p.Val529Met) rs146923365 0.00001
NM_133642.5(LARGE1):c.164C>T (p.Thr55Met) rs766363552 0.00001
NM_133642.5(LARGE1):c.1654A>G (p.Lys552Glu) rs764803042 0.00001
NM_133642.5(LARGE1):c.1663A>G (p.Ser555Gly) rs760507626 0.00001
NM_133642.5(LARGE1):c.1702C>G (p.Pro568Ala) rs1934563241 0.00001
NM_133642.5(LARGE1):c.1706T>C (p.Met569Thr) rs561951366 0.00001
NM_133642.5(LARGE1):c.173G>A (p.Ser58Asn) rs774240856 0.00001
NM_133642.5(LARGE1):c.1799T>C (p.Leu600Pro) rs1930821948 0.00001
NM_133642.5(LARGE1):c.1933G>A (p.Ala645Thr) rs759095312 0.00001
NM_133642.5(LARGE1):c.206T>C (p.Met69Thr) rs1602977812 0.00001
NM_133642.5(LARGE1):c.2087T>C (p.Ile696Thr) rs200212868 0.00001
NM_133642.5(LARGE1):c.222G>T (p.Glu74Asp) rs373261094 0.00001
NM_133642.5(LARGE1):c.2234C>A (p.Ala745Asp) rs1254409268 0.00001
NM_133642.5(LARGE1):c.2243A>G (p.Lys748Arg) rs1185896635 0.00001
NM_133642.5(LARGE1):c.227A>C (p.Asn76Thr) rs752854659 0.00001
NM_133642.5(LARGE1):c.230G>A (p.Arg77His) rs1402888044 0.00001
NM_133642.5(LARGE1):c.245A>G (p.Gln82Arg) rs774035009 0.00001
NM_133642.5(LARGE1):c.265C>G (p.Arg89Gly) rs1359437833 0.00001
NM_133642.5(LARGE1):c.284G>A (p.Arg95Gln) rs773482355 0.00001
NM_133642.5(LARGE1):c.298A>G (p.Lys100Glu) rs985654114 0.00001
NM_133642.5(LARGE1):c.418G>A (p.Val140Ile) rs780394465 0.00001
NM_133642.5(LARGE1):c.442A>C (p.Asn148His) rs753419341 0.00001
NM_133642.5(LARGE1):c.492-3C>T rs1222657512 0.00001
NM_133642.5(LARGE1):c.492-6C>G rs762612242 0.00001
NM_133642.5(LARGE1):c.494G>A (p.Arg165Gln) rs1343483735 0.00001
NM_133642.5(LARGE1):c.506A>G (p.His169Arg) rs886057461 0.00001
NM_133642.5(LARGE1):c.510C>G (p.Phe170Leu) rs770995323 0.00001
NM_133642.5(LARGE1):c.577G>A (p.Ala193Thr) rs1349882228 0.00001
NM_133642.5(LARGE1):c.583C>T (p.Arg195Cys) rs758364338 0.00001
NM_133642.5(LARGE1):c.74C>T (p.Thr25Ile) rs773210756 0.00001
NM_133642.5(LARGE1):c.755C>T (p.Ala252Val) rs764632554 0.00001
NM_133642.5(LARGE1):c.79A>G (p.Ile27Val) rs772137666 0.00001
NM_133642.5(LARGE1):c.8G>C (p.Gly3Ala) rs780682266 0.00001
NM_133642.5(LARGE1):c.958G>A (p.Ala320Thr) rs374774937 0.00001
NC_000001.10:g.(?_46654371)_(46663513_?)dup
NC_000001.10:g.(?_46654381)_(46659607_?)dup
NC_000001.10:g.(?_46654904)_(46660083_?)dup
NC_000001.10:g.(?_46654942)_(46655681_?)dup
NC_000001.10:g.(?_46654942)_(46656476_?)dup
NC_000001.10:g.(?_46654942)_(46661769_?)dup
NC_000001.10:g.(?_46654942)_(46663493_?)dup
NC_000001.11:g.(?_46188709)_(46194411_?)dup
NC_000001.11:g.(?_46189232)_(46197831_?)dup
NC_000009.11:g.(?_134395447)_(134395600_?)dup
NC_000009.12:g.(?_130664644)_(131523116_?)dup
NC_000014.8:g.(?_77743719)_(77787024_?)dup
NC_000022.10:g.(?_32232938)_(34157463_?)dup
NC_000022.10:g.(?_33670403)_(33679344_?)del
NC_000022.10:g.(?_33670403)_(33828261_?)dup
NC_000022.10:g.(?_33960824)_(34046664_?)del
NC_000022.10:g.(?_34157338)_(34157463_?)dup
NM_001077365.2(POMT1):c.1031G>A (p.Cys344Tyr)
NM_001077365.2(POMT1):c.1076C>T (p.Pro359Leu) rs1292313849
NM_001077365.2(POMT1):c.1083-9_1083-8del rs781619064
NM_001077365.2(POMT1):c.1100G>T (p.Ser367Ile)
NM_001077365.2(POMT1):c.1105C>T (p.Pro369Ser) rs2131707245
NM_001077365.2(POMT1):c.1125C>G (p.His375Gln) rs35242383
NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys) rs748087053
NM_001077365.2(POMT1):c.116C>A (p.Ala39Asp) rs2131555907
NM_001077365.2(POMT1):c.116C>G (p.Ala39Gly)
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077365.2(POMT1):c.1176G>C (p.Thr392=) rs1588427953
NM_001077365.2(POMT1):c.1181A>G (p.Asp394Gly) rs2131748341
NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp) rs1564364465
NM_001077365.2(POMT1):c.1190C>T (p.Ala397Val)
NM_001077365.2(POMT1):c.1202C>T (p.Pro401Leu)
NM_001077365.2(POMT1):c.120G>A (p.Val40=)
NM_001077365.2(POMT1):c.122+5G>A rs376753193
NM_001077365.2(POMT1):c.1229T>C (p.Ile410Thr) rs1554778053
NM_001077365.2(POMT1):c.1248G>T (p.Met416Ile)
NM_001077365.2(POMT1):c.1252G>T (p.Ala418Ser) rs142057517
NM_001077365.2(POMT1):c.1256_1257insACA (p.Gln419dup) rs773942978
NM_001077365.2(POMT1):c.1272G>T (p.Leu424=)
NM_001077365.2(POMT1):c.1273-11del
NM_001077365.2(POMT1):c.1273-17G>C
NM_001077365.2(POMT1):c.1318C>T (p.Leu440Phe)
NM_001077365.2(POMT1):c.1335T>G (p.Phe445Leu) rs2131848570
NM_001077365.2(POMT1):c.1346A>G (p.Asn449Ser)
NM_001077365.2(POMT1):c.1348A>T (p.Thr450Ser) rs2131848872
NM_001077365.2(POMT1):c.1349C>A (p.Thr450Asn) rs757785909
NM_001077365.2(POMT1):c.1352C>T (p.Ser451Phe) rs890463115
NM_001077365.2(POMT1):c.1371C>G (p.Ser457Arg) rs746412899
NM_001077365.2(POMT1):c.1384C>T (p.Pro462Ser) rs1347678628
NM_001077365.2(POMT1):c.1390T>G (p.Trp464Gly) rs376126988
NM_001077365.2(POMT1):c.1399C>T (p.Arg467Trp) rs770668718
NM_001077365.2(POMT1):c.139T>G (p.Tyr47Asp) rs1945758260
NM_001077365.2(POMT1):c.1426C>G (p.Leu476Val) rs1949310812
NM_001077365.2(POMT1):c.1436G>C (p.Gly479Ala) rs1949313840
NM_001077365.2(POMT1):c.1441C>A (p.His481Asn)
NM_001077365.2(POMT1):c.1465GAG[1] (p.Glu490del) rs1949322859
NM_001077365.2(POMT1):c.1469A>C (p.Glu490Ala) rs2131857011
NM_001077365.2(POMT1):c.1482C>T (p.Gly494=)
NM_001077365.2(POMT1):c.1484C>A (p.Ala495Glu) rs761439623
NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4]) rs727502853
NM_001077365.2(POMT1):c.1507G>A (p.Glu503Lys) rs2131866665
NM_001077365.2(POMT1):c.151A>T (p.Ile51Phe) rs886044651
NM_001077365.2(POMT1):c.1521C>G (p.His507Gln)
NM_001077365.2(POMT1):c.1525C>G (p.Pro509Ala) rs140398617
NM_001077365.2(POMT1):c.1535T>A (p.Val512Glu)
NM_001077365.2(POMT1):c.1538A>C (p.Asp513Ala)
NM_001077365.2(POMT1):c.1540G>A (p.Val514Ile) rs984288781
NM_001077365.2(POMT1):c.154T>C (p.Ser52Pro) rs1554771665
NM_001077365.2(POMT1):c.1555A>G (p.Ser519Gly) rs1564381465
NM_001077365.2(POMT1):c.1570T>A (p.Phe524Ile)
NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys) rs1949475355
NM_001077365.2(POMT1):c.1585T>C (p.Trp529Arg) rs1949610411
NM_001077365.2(POMT1):c.1608T>G (p.Ser536Arg) rs1588482215
NM_001077365.2(POMT1):c.1634C>G (p.Ser545Cys)
NM_001077365.2(POMT1):c.1637G>A (p.Ser546Asn)
NM_001077365.2(POMT1):c.1637G>C (p.Ser546Thr) rs1949619639
NM_001077365.2(POMT1):c.1638C>G (p.Ser546Arg) rs2131881044
NM_001077365.2(POMT1):c.1658T>C (p.Leu553Pro) rs777490066
NM_001077365.2(POMT1):c.1664C>T (p.Thr555Ile)
NM_001077365.2(POMT1):c.1667A>G (p.Asn556Ser)
NM_001077365.2(POMT1):c.1672G>T (p.Ala558Ser)
NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys) rs119462984
NM_001077365.2(POMT1):c.1698+2dup
NM_001077365.2(POMT1):c.1699-11T>G
NM_001077365.2(POMT1):c.1705A>C (p.Ile569Leu) rs1588493803
NM_001077365.2(POMT1):c.1715T>G (p.Leu572Arg)
NM_001077365.2(POMT1):c.1735G>C (p.Val579Leu) rs1588494128
NM_001077365.2(POMT1):c.1745G>C (p.Ser582Thr)
NM_001077365.2(POMT1):c.1768C>G (p.Leu590Val)
NM_001077365.2(POMT1):c.1778T>C (p.Leu593Ser)
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu) rs1564332130
NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu) rs753485021
NM_001077365.2(POMT1):c.1825+3_1825+16del
NM_001077365.2(POMT1):c.1825+4A>C
NM_001077365.2(POMT1):c.1838G>T (p.Arg613Leu)
NM_001077365.2(POMT1):c.183G>A (p.Leu61=) rs1945769344
NM_001077365.2(POMT1):c.1867G>C (p.Gly623Arg)
NM_001077365.2(POMT1):c.1907A>G (p.Glu636Gly) rs1322926242
NM_001077365.2(POMT1):c.1937C>T (p.Pro646Leu) rs2131922893
NM_001077365.2(POMT1):c.1979A>G (p.Gln660Arg) rs775109154
NM_001077365.2(POMT1):c.1985T>A (p.Ile662Asn) rs2131923569
NM_001077365.2(POMT1):c.2000G>A (p.Cys667Tyr) rs1219770866
NM_001077365.2(POMT1):c.2002A>C (p.Arg668=) rs985023011
NM_001077365.2(POMT1):c.2003+12_2003+13delinsAT
NM_001077365.2(POMT1):c.2015A>G (p.Gln672Arg)
NM_001077365.2(POMT1):c.2022C>G (p.Ser674Arg)
NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His) rs113633543
NM_001077365.2(POMT1):c.2053T>A (p.Ser685Thr) rs1588513928
NM_001077365.2(POMT1):c.205G>A (p.Gly69Ser) rs1945776583
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) rs141895982
NM_001077365.2(POMT1):c.2068G>T (p.Val690Leu)
NM_001077365.2(POMT1):c.2089C>T (p.Leu697Phe)
NM_001077365.2(POMT1):c.2090T>A (p.Leu697His) rs753872714
NM_001077365.2(POMT1):c.2093C>T (p.Thr698Ile)
NM_001077365.2(POMT1):c.2098G>T (p.Gly700Trp) rs912556508
NM_001077365.2(POMT1):c.2101G>T (p.Asp701Tyr) rs771877812
NM_001077365.2(POMT1):c.2110C>T (p.Leu704Phe) rs2131946967
NM_001077365.2(POMT1):c.2138G>A (p.Arg713His) rs938573554
NM_001077365.2(POMT1):c.2140T>C (p.Trp714Arg)
NM_001077365.2(POMT1):c.2162T>G (p.Leu721Trp)
NM_001077365.2(POMT1):c.2178G>C (p.Ter726Tyr) rs147143094
NM_001077365.2(POMT1):c.221C>A (p.Ala74Asp)
NM_001077365.2(POMT1):c.23C>T (p.Pro8Leu)
NM_001077365.2(POMT1):c.274G>A (p.Gly92Arg) rs2131592403
NM_001077365.2(POMT1):c.283T>C (p.Tyr95His)
NM_001077365.2(POMT1):c.295G>A (p.Val99Met) rs1449103987
NM_001077365.2(POMT1):c.342G>T (p.Leu114Phe)
NM_001077365.2(POMT1):c.344C>T (p.Ser115Leu)
NM_001077365.2(POMT1):c.352A>G (p.Met118Val)
NM_001077365.2(POMT1):c.418A>G (p.Met140Val) rs2131607251
NM_001077365.2(POMT1):c.434C>T (p.Ala145Val)
NM_001077365.2(POMT1):c.439A>G (p.Ile147Val)
NM_001077365.2(POMT1):c.459G>A (p.Met153Ile) rs1184495903
NM_001077365.2(POMT1):c.466G>C (p.Glu156Gln)
NM_001077365.2(POMT1):c.499G>C (p.Val167Leu)
NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
NM_001077365.2(POMT1):c.520T>A (p.Phe174Ile)
NM_001077365.2(POMT1):c.533A>G (p.Lys178Arg)
NM_001077365.2(POMT1):c.538A>C (p.Ser180Arg) rs770239141
NM_001077365.2(POMT1):c.540-3C>T
NM_001077365.2(POMT1):c.558G>T (p.Trp186Cys)
NM_001077365.2(POMT1):c.587C>T (p.Ala196Val)
NM_001077365.2(POMT1):c.592T>A (p.Ser198Thr) rs767056835
NM_001077365.2(POMT1):c.59T>C (p.Val20Ala)
NM_001077365.2(POMT1):c.600_601delinsGA (p.Val201Met) rs2131641762
NM_001077365.2(POMT1):c.605+4A>G
NM_001077365.2(POMT1):c.622G>T (p.Val208Leu)
NM_001077365.2(POMT1):c.62C>T (p.Ala21Val)
NM_001077365.2(POMT1):c.640G>T (p.Val214Leu)
NM_001077365.2(POMT1):c.641T>C (p.Val214Ala) rs919829316
NM_001077365.2(POMT1):c.687G>C (p.Gln229His) rs1946741782
NM_001077365.2(POMT1):c.689C>G (p.Thr230Ser)
NM_001077365.2(POMT1):c.699+14T>G rs370038491
NM_001077365.2(POMT1):c.699+26T>G rs2131645042
NM_001077365.2(POMT1):c.699+40A>G
NM_001077365.2(POMT1):c.699+49A>T
NM_001077365.2(POMT1):c.699+5G>T
NM_001077365.2(POMT1):c.699+64G>C rs746958804
NM_001077365.2(POMT1):c.699+66G>T
NM_001077365.2(POMT1):c.699+6T>G
NM_001077365.2(POMT1):c.724G>T (p.Ala242Ser) rs779771679
NM_001077365.2(POMT1):c.725C>T (p.Ala242Val) rs1554774466
NM_001077365.2(POMT1):c.728G>C (p.Arg243Pro) rs772980661
NM_001077365.2(POMT1):c.743T>G (p.Leu248Arg) rs1946833127
NM_001077365.2(POMT1):c.748A>G (p.Ile250Val)
NM_001077365.2(POMT1):c.75G>T (p.Met25Ile)
NM_001077365.2(POMT1):c.761T>G (p.Leu254Arg)
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile) rs759734493
NM_001077365.2(POMT1):c.797_808del (p.Val266_Ser269del)
NM_001077365.2(POMT1):c.852A>T (p.Leu284Phe)
NM_001077365.2(POMT1):c.859G>A (p.Gly287Arg)
NM_001077365.2(POMT1):c.860G>A (p.Gly287Glu) rs1947076473
NM_001077365.2(POMT1):c.879G>T (p.Gln293His) rs1947080431
NM_001077365.2(POMT1):c.880G>A (p.Gly294Ser) rs145395372
NM_001077365.2(POMT1):c.881G>A (p.Gly294Asp) rs1947081771
NM_001077365.2(POMT1):c.8G>A (p.Gly3Glu)
NM_001077365.2(POMT1):c.92T>A (p.Leu31Gln) rs2131555430
NM_001077365.2(POMT1):c.962_982del (p.Ser321_Met328delinsLeu) rs2131673494
NM_001077365.2(POMT1):c.982A>C (p.Met328Leu)
NM_001077365.2(POMT1):c.988T>C (p.Tyr330His)
NM_001079802.2(FKTN):c.*42del rs749100291
NM_001079802.2(FKTN):c.-181+1G>T rs574535599
NM_001079802.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser) rs1343750016
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn) rs2132016533
NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro) rs371697266
NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del) rs1176794033
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
NM_001079802.2(FKTN):c.530A>G (p.His177Arg) rs773322779
NM_001079802.2(FKTN):c.531T>A (p.His177Gln) rs534638144
NM_001079802.2(FKTN):c.711C>G (p.His237Gln) rs562170364
NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg) rs1564318575
NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg) rs2133099564
NM_001079802.2(FKTN):c.934A>G (p.Ile312Val) rs2133161218
NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly) rs759791267
NM_013382.7(POMT2):c.1000C>T (p.Pro334Ser) rs1890916653
NM_013382.7(POMT2):c.1006+4_1006+7del rs1594794303
NM_013382.7(POMT2):c.1006C>A (p.His336Asn) rs765103940
NM_013382.7(POMT2):c.1012G>A (p.Ala338Thr) rs771636400
NM_013382.7(POMT2):c.1030A>C (p.Thr344Pro) rs1285454398
NM_013382.7(POMT2):c.1040A>C (p.Asn347Thr) rs371158744
NM_013382.7(POMT2):c.1045C>G (p.Arg349Gly) rs141339355
NM_013382.7(POMT2):c.1048A>G (p.Met350Val) rs749883166
NM_013382.7(POMT2):c.1088C>T (p.Pro363Leu) rs2140218751
NM_013382.7(POMT2):c.1103C>T (p.Ala368Val) rs1890820771
NM_013382.7(POMT2):c.1105C>A (p.Arg369Ser)
NM_013382.7(POMT2):c.1108C>A (p.Gln370Lys)
NM_013382.7(POMT2):c.1117-12C>G rs535647699
NM_013382.7(POMT2):c.1117G>C (p.Val373Leu)
NM_013382.7(POMT2):c.1169A>C (p.His390Pro)
NM_013382.7(POMT2):c.1187C>T (p.Pro396Leu)
NM_013382.7(POMT2):c.1189C>G (p.Leu397Val)
NM_013382.7(POMT2):c.118C>G (p.Arg40Gly) rs755650000
NM_013382.7(POMT2):c.1210G>A (p.Glu404Lys) rs2140195392
NM_013382.7(POMT2):c.1223A>G (p.His408Arg) rs1594787166
NM_013382.7(POMT2):c.1231A>G (p.Ile411Val)
NM_013382.7(POMT2):c.1231A>T (p.Ile411Phe)
NM_013382.7(POMT2):c.1238G>A (p.Arg413Gln) rs190285831
NM_013382.7(POMT2):c.1248C>G (p.His416Gln) rs1566649375
NM_013382.7(POMT2):c.1254-3T>C rs766683771
NM_013382.7(POMT2):c.1265A>G (p.Asn422Ser) rs2140188544
NM_013382.7(POMT2):c.1282_1284del (p.His428del) rs1594890912
NM_013382.7(POMT2):c.1291C>T (p.Pro431Ser)
NM_013382.7(POMT2):c.129_131del (p.Arg44del)
NM_013382.7(POMT2):c.1301G>A (p.Arg434Gln)
NM_013382.7(POMT2):c.1310A>G (p.Tyr437Cys)
NM_013382.7(POMT2):c.1332+19T>G rs1057522317
NM_013382.7(POMT2):c.1332+8A>C
NM_013382.7(POMT2):c.133C>G (p.Pro45Ala) rs780976004
NM_013382.7(POMT2):c.1348T>G (p.Ser450Ala)
NM_013382.7(POMT2):c.134C>G (p.Pro45Arg) rs753037500
NM_013382.7(POMT2):c.134C>T (p.Pro45Leu) rs753037500
NM_013382.7(POMT2):c.1382G>A (p.Arg461Lys) rs1030338170
NM_013382.7(POMT2):c.1385A>G (p.Lys462Arg)
NM_013382.7(POMT2):c.1394A>G (p.Asn465Ser)
NM_013382.7(POMT2):c.13A>T (p.Thr5Ser) rs1891858162
NM_013382.7(POMT2):c.1423C>A (p.Arg475Ser) rs746000047
NM_013382.7(POMT2):c.1426T>C (p.Phe476Leu) rs727502856
NM_013382.7(POMT2):c.1445G>T (p.Gly482Val) rs267606968
NM_013382.7(POMT2):c.1467A>T (p.Gly489=) rs1555352583
NM_013382.7(POMT2):c.1471G>C (p.Val491Leu)
NM_013382.7(POMT2):c.1480A>G (p.Lys494Glu)
NM_013382.7(POMT2):c.1484+1_1484+3dup rs1890389214
NM_013382.7(POMT2):c.1484+5G>A
NM_013382.7(POMT2):c.148C>T (p.Arg50Trp) rs550420394
NM_013382.7(POMT2):c.14C>G (p.Thr5Arg) rs760413289
NM_013382.7(POMT2):c.1538A>G (p.Asn513Ser)
NM_013382.7(POMT2):c.1540T>A (p.Ser514Thr) rs1566647081
NM_013382.7(POMT2):c.1568A>G (p.Asn523Ser) rs886042386
NM_013382.7(POMT2):c.1568A>T (p.Asn523Ile) rs886042386
NM_013382.7(POMT2):c.1570C>T (p.Pro524Ser) rs1421956619
NM_013382.7(POMT2):c.1571C>T (p.Pro524Leu)
NM_013382.7(POMT2):c.1574A>C (p.Lys525Thr) rs767137783
NM_013382.7(POMT2):c.1576+5G>A rs2140182723
NM_013382.7(POMT2):c.1604A>T (p.Gln535Leu) rs147882035
NM_013382.7(POMT2):c.160G>A (p.Ala54Thr)
NM_013382.7(POMT2):c.1621A>G (p.Ile541Val) rs2140179545
NM_013382.7(POMT2):c.1627C>G (p.Leu543Val)
NM_013382.7(POMT2):c.1637A>C (p.His546Pro)
NM_013382.7(POMT2):c.1645A>G (p.Met549Val) rs1555352401
NM_013382.7(POMT2):c.1654-5T>G
NM_013382.7(POMT2):c.1654-7C>A rs578133776
NM_013382.7(POMT2):c.1655G>A (p.Gly552Glu)
NM_013382.7(POMT2):c.1664G>T (p.Gly555Val)
NM_013382.7(POMT2):c.1666C>T (p.Leu556Phe) rs1890178718
NM_013382.7(POMT2):c.1673C>T (p.Pro558Leu) rs2140169524
NM_013382.7(POMT2):c.168C>T (p.Gly56=) rs2139550502
NM_013382.7(POMT2):c.16G>A (p.Gly6Ser) rs751918638
NM_013382.7(POMT2):c.1709G>T (p.Trp570Leu) rs910353997
NM_013382.7(POMT2):c.1721A>C (p.Tyr574Ser) rs142870987
NM_013382.7(POMT2):c.1721A>G (p.Tyr574Cys) rs142870987
NM_013382.7(POMT2):c.1730T>A (p.Leu577Gln)
NM_013382.7(POMT2):c.1744G>T (p.Val582Phe)
NM_013382.7(POMT2):c.1768T>C (p.Tyr590His) rs2140167504
NM_013382.7(POMT2):c.1774C>T (p.Leu592Phe)
NM_013382.7(POMT2):c.1816G>A (p.Ala606Thr)
NM_013382.7(POMT2):c.1822T>C (p.Tyr608His)
NM_013382.7(POMT2):c.1828C>T (p.Leu610Phe) rs1555351859
NM_013382.7(POMT2):c.1841T>A (p.Ile614Asn)
NM_013382.7(POMT2):c.1846G>A (p.Ala616Thr)
NM_013382.7(POMT2):c.1855A>G (p.Met619Val) rs1890143383
NM_013382.7(POMT2):c.1857G>C (p.Met619Ile) rs1594885046
NM_013382.7(POMT2):c.1885G>A (p.Val629Ile) rs777708372
NM_013382.7(POMT2):c.1888G>T (p.Ala630Ser) rs111857094
NM_013382.7(POMT2):c.190G>T (p.Val64Leu)
NM_013382.7(POMT2):c.1911_1934del (p.Arg638_Leu645del)
NM_013382.7(POMT2):c.1927G>A (p.Val643Ile)
NM_013382.7(POMT2):c.2001C>G (p.Phe667Leu)
NM_013382.7(POMT2):c.2022C>T (p.Ser674=) rs1566642798
NM_013382.7(POMT2):c.2023A>G (p.Met675Val) rs2140161882
NM_013382.7(POMT2):c.2024T>C (p.Met675Thr)
NM_013382.7(POMT2):c.2030C>A (p.Thr677Lys) rs2140161863
NM_013382.7(POMT2):c.2035A>G (p.Ile679Val)
NM_013382.7(POMT2):c.2048C>A (p.Thr683Asn)
NM_013382.7(POMT2):c.2083T>C (p.Trp695Arg) rs139308429
NM_013382.7(POMT2):c.2085_2086delinsTT (p.Trp695_Pro696delinsCysSer) rs1566642523
NM_013382.7(POMT2):c.2101A>T (p.Ile701Leu) rs146367996
NM_013382.7(POMT2):c.2125C>G (p.Leu709Val)
NM_013382.7(POMT2):c.2128C>G (p.Leu710Val) rs2140160442
NM_013382.7(POMT2):c.2146A>T (p.Ser716Cys)
NM_013382.7(POMT2):c.2161C>T (p.His721Tyr) rs2140157155
NM_013382.7(POMT2):c.2164C>T (p.Pro722Ser) rs1890012951
NM_013382.7(POMT2):c.2182G>A (p.Val728Ile) rs1367401943
NM_013382.7(POMT2):c.220C>T (p.His74Tyr) rs1398447748
NM_013382.7(POMT2):c.2228G>T (p.Arg743Met) rs767359121
NM_013382.7(POMT2):c.224G>C (p.Arg75Pro) rs1200964688
NM_013382.7(POMT2):c.2251T>C (p.Ter751Arg) rs1423335226
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.239C>T (p.Pro80Leu) rs1195398546
NM_013382.7(POMT2):c.242A>C (p.His81Pro) rs746662519
NM_013382.7(POMT2):c.242A>G (p.His81Arg) rs746662519
NM_013382.7(POMT2):c.247T>A (p.Cys83Ser)
NM_013382.7(POMT2):c.248+5G>A
NM_013382.7(POMT2):c.260C>G (p.Thr87Ser)
NM_013382.7(POMT2):c.278G>A (p.Gly93Glu) rs1891452198
NM_013382.7(POMT2):c.292A>C (p.Asn98His)
NM_013382.7(POMT2):c.322C>T (p.Pro108Ser) rs1555355402
NM_013382.7(POMT2):c.329G>A (p.Gly110Glu) rs1891447838
NM_013382.7(POMT2):c.332A>G (p.Lys111Arg)
NM_013382.7(POMT2):c.334-3C>A rs1566658848
NM_013382.7(POMT2):c.344G>C (p.Gly115Ala) rs1594800236
NM_013382.7(POMT2):c.346C>T (p.Leu116Phe) rs1594800231
NM_013382.7(POMT2):c.35C>T (p.Ser12Phe) rs1891855792
NM_013382.7(POMT2):c.389A>G (p.Gln130Arg) rs758643051
NM_013382.7(POMT2):c.406T>C (p.Tyr136His) rs1891230114
NM_013382.7(POMT2):c.416A>G (p.His139Arg) rs1594800188
NM_013382.7(POMT2):c.46C>T (p.Pro16Ser) rs747944127
NM_013382.7(POMT2):c.475G>T (p.Ala159Ser)
NM_013382.7(POMT2):c.50G>A (p.Arg17Gln) rs753326186
NM_013382.7(POMT2):c.521T>C (p.Leu174Pro) rs1891164358
NM_013382.7(POMT2):c.530C>T (p.Ala177Val)
NM_013382.7(POMT2):c.533C>A (p.Ala178Asp)
NM_013382.7(POMT2):c.547+5G>A rs773914478
NM_013382.7(POMT2):c.548A>G (p.Asp183Gly) rs1891099770
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe) rs398124265
NM_013382.7(POMT2):c.583C>G (p.Leu195Val) rs2139487023
NM_013382.7(POMT2):c.586G>A (p.Asp196Asn) rs1200584567
NM_013382.7(POMT2):c.587A>T (p.Asp196Val) rs745591622
NM_013382.7(POMT2):c.58C>T (p.Arg20Cys) rs750127630
NM_013382.7(POMT2):c.620T>C (p.Met207Thr) rs1326409250
NM_013382.7(POMT2):c.636G>C (p.Lys212Asn) rs368906346
NM_013382.7(POMT2):c.642C>A (p.Asn214Lys) rs1594797659
NM_013382.7(POMT2):c.655A>G (p.Arg219Gly)
NM_013382.7(POMT2):c.657-3C>T rs2139480952
NM_013382.7(POMT2):c.658C>T (p.Pro220Ser) rs771201662
NM_013382.7(POMT2):c.659C>T (p.Pro220Leu) rs1555354184
NM_013382.7(POMT2):c.671C>T (p.Pro224Leu)
NM_013382.7(POMT2):c.68C>G (p.Pro23Arg) rs2139551576
NM_013382.7(POMT2):c.690C>G (p.Ser230Arg)
NM_013382.7(POMT2):c.745A>G (p.Ile249Val) rs1337866102
NM_013382.7(POMT2):c.74C>T (p.Ala25Val)
NM_013382.7(POMT2):c.758T>G (p.Val253Gly) rs760828168
NM_013382.7(POMT2):c.763C>G (p.Leu255Val) rs1048633441
NM_013382.7(POMT2):c.767A>T (p.Asn256Ile) rs1891021273
NM_013382.7(POMT2):c.773T>C (p.Ile258Thr)
NM_013382.7(POMT2):c.780C>A (p.Asp260Glu)
NM_013382.7(POMT2):c.781C>T (p.Leu261Phe)
NM_013382.7(POMT2):c.795C>G (p.Phe265Leu) rs765276419
NM_013382.7(POMT2):c.7C>G (p.Pro3Ala) rs1342953034
NM_013382.7(POMT2):c.827G>A (p.Gly276Glu) rs1890947139
NM_013382.7(POMT2):c.836T>A (p.Leu279Gln) rs1890946815
NM_013382.7(POMT2):c.844C>G (p.Arg282Gly)
NM_013382.7(POMT2):c.855C>G (p.Cys285Trp)
NM_013382.7(POMT2):c.85G>A (p.Ala29Thr)
NM_013382.7(POMT2):c.85G>T (p.Ala29Ser)
NM_013382.7(POMT2):c.866T>G (p.Leu289Arg) rs2139473885
NM_013382.7(POMT2):c.874G>C (p.Ala292Pro) rs1312138776
NM_013382.7(POMT2):c.884C>G (p.Thr295Arg) rs794727871
NM_013382.7(POMT2):c.884C>T (p.Thr295Ile) rs794727871
NM_013382.7(POMT2):c.895G>A (p.Ala299Thr)
NM_013382.7(POMT2):c.917G>A (p.Ser306Asn)
NM_013382.7(POMT2):c.923+5A>G
NM_013382.7(POMT2):c.929C>T (p.Pro310Leu)
NM_013382.7(POMT2):c.937G>A (p.Gly313Ser)
NM_013382.7(POMT2):c.957C>G (p.Phe319Leu)
NM_013382.7(POMT2):c.970T>C (p.Ser324Pro)
NM_013382.7(POMT2):c.985C>T (p.His329Tyr) rs2139470461
NM_013382.7(POMT2):c.989A>G (p.Asn330Ser)
NM_013382.7(POMT2):c.997A>G (p.Ile333Val) rs1890917117
NM_017739.4(POMGNT1):c.*457C>T rs1657513729
NM_017739.4(POMGNT1):c.1001C>T (p.Thr334Ile) rs1027415099
NM_017739.4(POMGNT1):c.1009A>G (p.Ile337Val)
NM_017739.4(POMGNT1):c.100G>A (p.Ala34Thr) rs1658356810
NM_017739.4(POMGNT1):c.1017CTA[1] (p.Tyr341del) rs2148194204
NM_017739.4(POMGNT1):c.1022A>G (p.Tyr341Cys)
NM_017739.4(POMGNT1):c.1026+3G>A
NM_017739.4(POMGNT1):c.1031C>T (p.Pro344Leu)
NM_017739.4(POMGNT1):c.1036G>C (p.Asp346His) rs754255569
NM_017739.4(POMGNT1):c.1042G>A (p.Val348Met) rs2148192741
NM_017739.4(POMGNT1):c.104T>A (p.Leu35Gln) rs2148222413
NM_017739.4(POMGNT1):c.1055G>A (p.Gly352Asp) rs1195736220
NM_017739.4(POMGNT1):c.1064G>A (p.Gly355Asp) rs2148192555
NM_017739.4(POMGNT1):c.1082T>C (p.Ile361Thr) rs1553163380
NM_017739.4(POMGNT1):c.1085G>C (p.Ser362Thr)
NM_017739.4(POMGNT1):c.1091A>G (p.Lys364Arg) rs1557673272
NM_017739.4(POMGNT1):c.1109A>T (p.Gln370Leu)
NM_017739.4(POMGNT1):c.1110+3A>G
NM_017739.4(POMGNT1):c.1110+5T>A
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln) rs752591703
NM_017739.4(POMGNT1):c.1132G>A (p.Ala378Thr)
NM_017739.4(POMGNT1):c.1140C>A (p.Phe380Leu)
NM_017739.4(POMGNT1):c.1142A>C (p.Asn381Thr) rs140846775
NM_017739.4(POMGNT1):c.1149T>G (p.Phe383Leu) rs2148191200
NM_017739.4(POMGNT1):c.1152+3G>A rs1657923881
NM_017739.4(POMGNT1):c.1153G>C (p.Glu385Gln) rs2148189653
NM_017739.4(POMGNT1):c.1154A>T (p.Glu385Val) rs1657900516
NM_017739.4(POMGNT1):c.115T>C (p.Cys39Arg)
NM_017739.4(POMGNT1):c.1160A>G (p.Lys387Arg) rs1351958771
NM_017739.4(POMGNT1):c.1165G>T (p.Ala389Ser) rs374639571
NM_017739.4(POMGNT1):c.1168G>A (p.Val390Met) rs779045970
NM_017739.4(POMGNT1):c.116G>C (p.Cys39Ser) rs775392834
NM_017739.4(POMGNT1):c.120+4T>C rs1223030962
NM_017739.4(POMGNT1):c.1201G>A (p.Asp401Asn) rs1657895778
NM_017739.4(POMGNT1):c.120G>A (p.Gln40=) rs1658354104
NM_017739.4(POMGNT1):c.121-3C>T rs2148219601
NM_017739.4(POMGNT1):c.1211+6G>A
NM_017739.4(POMGNT1):c.1212-3C>G
NM_017739.4(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_017739.4(POMGNT1):c.1226C>A (p.Ser409Tyr) rs1259024068
NM_017739.4(POMGNT1):c.1264A>C (p.Ile422Leu) rs1553163234
NM_017739.4(POMGNT1):c.127G>A (p.Ala43Thr)
NM_017739.4(POMGNT1):c.127G>C (p.Ala43Pro)
NM_017739.4(POMGNT1):c.1284+3A>C
NM_017739.4(POMGNT1):c.1284+4G>A rs2148187138
NM_017739.4(POMGNT1):c.1284+6C>T
NM_017739.4(POMGNT1):c.1286G>A (p.Gly429Glu)
NM_017739.4(POMGNT1):c.1294C>G (p.His432Asp)
NM_017739.4(POMGNT1):c.1300G>A (p.Ala434Thr) rs2148186054
NM_017739.4(POMGNT1):c.1332G>T (p.Glu444Asp) rs2148185834
NM_017739.4(POMGNT1):c.1338G>A (p.Met446Ile) rs1571655190
NM_017739.4(POMGNT1):c.134T>A (p.Leu45His) rs2148219431
NM_017739.4(POMGNT1):c.1373A>G (p.Tyr458Cys)
NM_017739.4(POMGNT1):c.1377G>C (p.Lys459Asn)
NM_017739.4(POMGNT1):c.1387G>C (p.Glu463Gln)
NM_017739.4(POMGNT1):c.1391C>T (p.Pro464Leu)
NM_017739.4(POMGNT1):c.1395G>C (p.Lys465Asn) rs1657843296
NM_017739.4(POMGNT1):c.1402A>G (p.Thr468Ala)
NM_017739.4(POMGNT1):c.1403C>T (p.Thr468Ile) rs2148185390
NM_017739.4(POMGNT1):c.1406C>T (p.Pro469Leu) rs769879467
NM_017739.4(POMGNT1):c.1413+6T>G rs1160554172
NM_017739.4(POMGNT1):c.1414C>A (p.Leu472Ile) rs1253221637
NM_017739.4(POMGNT1):c.1430T>C (p.Met477Thr)
NM_017739.4(POMGNT1):c.1435A>G (p.Met479Val)
NM_017739.4(POMGNT1):c.144G>A (p.Leu48=) rs776815245
NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_017739.4(POMGNT1):c.1456C>T (p.Arg486Trp)
NM_017739.4(POMGNT1):c.1457G>T (p.Arg486Leu) rs753030030
NM_017739.4(POMGNT1):c.1462C>G (p.Arg488Gly) rs727504103
NM_017739.4(POMGNT1):c.1465G>A (p.Glu489Lys)
NM_017739.4(POMGNT1):c.1499A>C (p.His500Pro)
NM_017739.4(POMGNT1):c.1501T>C (p.Phe501Leu) rs753120009
NM_017739.4(POMGNT1):c.1510G>T (p.Val504Phe) rs17102066
NM_017739.4(POMGNT1):c.151G>A (p.Val51Ile) rs2148219344
NM_017739.4(POMGNT1):c.1521C>G (p.Asn507Lys) rs767617711
NM_017739.4(POMGNT1):c.1523T>C (p.Met508Thr) rs1571653937
NM_017739.4(POMGNT1):c.1539+16G>T rs2148183113
NM_017739.4(POMGNT1):c.1540-16C>G
NM_017739.4(POMGNT1):c.1540-3C>T
NM_017739.4(POMGNT1):c.1547A>C (p.Tyr516Ser)
NM_017739.4(POMGNT1):c.1571C>G (p.Thr524Arg) rs769180238
NM_017739.4(POMGNT1):c.1588C>T (p.Leu530Phe)
NM_017739.4(POMGNT1):c.1597G>T (p.Val533Leu) rs1657700266
NM_017739.4(POMGNT1):c.1605-15C>T
NM_017739.4(POMGNT1):c.1605-3C>T rs1457187510
NM_017739.4(POMGNT1):c.1615G>A (p.Glu539Lys) rs1657679725
NM_017739.4(POMGNT1):c.1634T>C (p.Val545Ala) rs1657678070
NM_017739.4(POMGNT1):c.1636C>T (p.His546Tyr) rs970460430
NM_017739.4(POMGNT1):c.163A>G (p.Ile55Val) rs2148219236
NM_017739.4(POMGNT1):c.1651G>A (p.Glu551Lys)
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser) rs2148167563
NM_017739.4(POMGNT1):c.1693T>A (p.Ser565Thr) rs753688195
NM_017739.4(POMGNT1):c.1693T>C (p.Ser565Pro) rs753688195
NM_017739.4(POMGNT1):c.169T>G (p.Leu57Val)
NM_017739.4(POMGNT1):c.16C>T (p.Pro6Ser) rs1553164303
NM_017739.4(POMGNT1):c.1708A>G (p.Thr570Ala)
NM_017739.4(POMGNT1):c.1711G>A (p.Glu571Lys)
NM_017739.4(POMGNT1):c.1712A>G (p.Glu571Gly) rs1204034604
NM_017739.4(POMGNT1):c.1726G>A (p.Val576Met)
NM_017739.4(POMGNT1):c.1729G>A (p.Ala577Thr) rs1343659692
NM_017739.4(POMGNT1):c.1739G>A (p.Arg580Gln)
NM_017739.4(POMGNT1):c.1752TGA[1] (p.Asp586del) rs777715386
NM_017739.4(POMGNT1):c.1763C>T (p.Thr588Ile)
NM_017739.4(POMGNT1):c.1777C>T (p.Leu593Phe)
NM_017739.4(POMGNT1):c.1802A>G (p.Asp601Gly)
NM_017739.4(POMGNT1):c.1828G>T (p.Gly610Cys) rs1657578489
NM_017739.4(POMGNT1):c.1844T>G (p.Phe615Cys) rs2148163569
NM_017739.4(POMGNT1):c.1846C>G (p.Arg616Gly) rs763071717
NM_017739.4(POMGNT1):c.1846C>T (p.Arg616Trp) rs763071717
NM_017739.4(POMGNT1):c.1848GAA[2] (p.Lys618del) rs1435566919
NM_017739.4(POMGNT1):c.184C>G (p.Arg62Gly) rs1352412667
NM_017739.4(POMGNT1):c.184C>T (p.Arg62Trp) rs1352412667
NM_017739.4(POMGNT1):c.185G>A (p.Arg62Gln) rs779506923
NM_017739.4(POMGNT1):c.1867A>C (p.Met623Leu) rs6659553
NM_017739.4(POMGNT1):c.1876G>A (p.Val626Ile) rs199723646
NM_017739.4(POMGNT1):c.1888C>T (p.Pro630Ser)
NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro) rs141421141
NM_017739.4(POMGNT1):c.1895C>G (p.Ser632Ter) rs200471699
NM_017739.4(POMGNT1):c.1897G>A (p.Val633Met) rs1657559085
NM_017739.4(POMGNT1):c.1898T>A (p.Val633Glu) rs1285505849
NM_017739.4(POMGNT1):c.1913C>T (p.Ser638Leu) rs2148162135
NM_017739.4(POMGNT1):c.1919C>T (p.Thr640Ile) rs748799436
NM_017739.4(POMGNT1):c.1924A>G (p.Ile642Val) rs757749808
NM_017739.4(POMGNT1):c.1924A>T (p.Ile642Phe) rs757749808
NM_017739.4(POMGNT1):c.1936C>T (p.Pro646Ser) rs1442072528
NM_017739.4(POMGNT1):c.1939C>G (p.Pro647Ala) rs2148161781
NM_017739.4(POMGNT1):c.1939C>T (p.Pro647Ser)
NM_017739.4(POMGNT1):c.1945A>C (p.Lys649Gln) rs752942416
NM_017739.4(POMGNT1):c.1950G>C (p.Glu650Asp) rs2148161681
NM_017739.4(POMGNT1):c.196A>G (p.Ser66Gly)
NM_017739.4(POMGNT1):c.1970C>T (p.Pro657Leu)
NM_017739.4(POMGNT1):c.19A>G (p.Ser7Gly) rs2148222925
NM_017739.4(POMGNT1):c.214C>T (p.Pro72Ser) rs2148218769
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys) rs972657462
NM_017739.4(POMGNT1):c.235G>A (p.Asp79Asn) rs1658296449
NM_017739.4(POMGNT1):c.237T>G (p.Asp79Glu) rs748566125
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His) rs373866304
NM_017739.4(POMGNT1):c.251G>T (p.Arg84Leu) rs373866304
NM_017739.4(POMGNT1):c.256G>C (p.Glu86Gln) rs1658280808
NM_017739.4(POMGNT1):c.259C>T (p.Pro87Ser) rs1557677993
NM_017739.4(POMGNT1):c.265C>T (p.Arg89Trp)
NM_017739.4(POMGNT1):c.275G>A (p.Gly92Asp) rs761706300
NM_017739.4(POMGNT1):c.284C>T (p.Pro95Leu) rs1334885135
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln) rs200227264
NM_017739.4(POMGNT1):c.30C>G (p.Ile10Met) rs781102649
NM_017739.4(POMGNT1):c.310T>G (p.Tyr104Asp) rs2148217123
NM_017739.4(POMGNT1):c.320G>A (p.Arg107His) rs527454065
NM_017739.4(POMGNT1):c.328G>T (p.Val110Leu) rs762760509
NM_017739.4(POMGNT1):c.341T>C (p.Val114Ala) rs2148216895
NM_017739.4(POMGNT1):c.353C>T (p.Thr118Met)
NM_017739.4(POMGNT1):c.354+6T>C rs1208898067
NM_017739.4(POMGNT1):c.354G>A (p.Thr118=)
NM_017739.4(POMGNT1):c.354G>C (p.Thr118=)
NM_017739.4(POMGNT1):c.355-3T>G rs1553163972
NM_017739.4(POMGNT1):c.355-8C>G rs2148213723
NM_017739.4(POMGNT1):c.373C>G (p.Arg125Gly)
NM_017739.4(POMGNT1):c.373C>T (p.Arg125Trp)
NM_017739.4(POMGNT1):c.374G>A (p.Arg125Gln)
NM_017739.4(POMGNT1):c.389G>A (p.Gly130Asp) rs1197810838
NM_017739.4(POMGNT1):c.38T>G (p.Phe13Cys)
NM_017739.4(POMGNT1):c.400A>G (p.Ile134Val) rs771101711
NM_017739.4(POMGNT1):c.419C>T (p.Thr140Met) rs766157232
NM_017739.4(POMGNT1):c.420+3G>C
NM_017739.4(POMGNT1):c.420+4A>G
NM_017739.4(POMGNT1):c.421-10C>A rs2148212526
NM_017739.4(POMGNT1):c.421-3C>T rs1658202678
NM_017739.4(POMGNT1):c.422G>A (p.Gly141Asp) rs2148212411
NM_017739.4(POMGNT1):c.434C>T (p.Ala145Val) rs2148212293
NM_017739.4(POMGNT1):c.436A>G (p.Lys146Glu)
NM_017739.4(POMGNT1):c.452C>A (p.Thr151Lys) rs886044363
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His) rs886043030
NM_017739.4(POMGNT1):c.476C>A (p.Ala159Asp) rs2148211902
NM_017739.4(POMGNT1):c.47G>A (p.Arg16Gln)
NM_017739.4(POMGNT1):c.490C>G (p.Leu164Val) rs2148211802
NM_017739.4(POMGNT1):c.494A>G (p.Asn165Ser)
NM_017739.4(POMGNT1):c.506C>T (p.Pro169Leu) rs1271259700
NM_017739.4(POMGNT1):c.508G>A (p.Gly170Ser) rs1164265990
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln) rs1046275062
NM_017739.4(POMGNT1):c.52A>G (p.Lys18Glu) rs1553164287
NM_017739.4(POMGNT1):c.541G>A (p.Gly181Ser) rs2148205851
NM_017739.4(POMGNT1):c.544T>C (p.Ser182Pro) rs2148205834
NM_017739.4(POMGNT1):c.557A>G (p.Lys186Arg) rs2148205697
NM_017739.4(POMGNT1):c.55C>T (p.Arg19Trp) rs757941122
NM_017739.4(POMGNT1):c.565G>C (p.Ala189Pro) rs949714416
NM_017739.4(POMGNT1):c.567C>T (p.Ala189=)
NM_017739.4(POMGNT1):c.599C>T (p.Ala200Val) rs1658103117
NM_017739.4(POMGNT1):c.607G>A (p.Ala203Thr) rs982953590
NM_017739.4(POMGNT1):c.61T>C (p.Trp21Arg) rs2148222670
NM_017739.4(POMGNT1):c.623A>T (p.Asp208Val)
NM_017739.4(POMGNT1):c.626C>T (p.Thr209Ile) rs1571664089
NM_017739.4(POMGNT1):c.628T>C (p.Trp210Arg) rs1658098171
NM_017739.4(POMGNT1):c.631G>A (p.Ala211Thr) rs1201476826
NM_017739.4(POMGNT1):c.652+3G>A
NM_017739.4(POMGNT1):c.656C>T (p.Pro219Leu) rs1244157163
NM_017739.4(POMGNT1):c.658G>A (p.Val220Ile) rs1349291334
NM_017739.4(POMGNT1):c.664G>C (p.Gly222Arg)
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys) rs386834036
NM_017739.4(POMGNT1):c.669G>C (p.Glu223Asp) rs1658072717
NM_017739.4(POMGNT1):c.686C>T (p.Pro229Leu)
NM_017739.4(POMGNT1):c.688G>A (p.Ala230Thr)
NM_017739.4(POMGNT1):c.689C>G (p.Ala230Gly) rs921366442
NM_017739.4(POMGNT1):c.6C>G (p.Asp2Glu)
NM_017739.4(POMGNT1):c.706G>A (p.Asp236Asn)
NM_017739.4(POMGNT1):c.706G>C (p.Asp236His) rs201525710
NM_017739.4(POMGNT1):c.70A>G (p.Thr24Ala) rs766907690
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg) rs2148202208
NM_017739.4(POMGNT1):c.730G>A (p.Val244Met)
NM_017739.4(POMGNT1):c.749A>G (p.Glu250Gly)
NM_017739.4(POMGNT1):c.74_75delinsTT (p.Trp25Phe) rs2148222600
NM_017739.4(POMGNT1):c.751+3G>A
NM_017739.4(POMGNT1):c.751G>A (p.Glu251Lys) rs2148201993
NM_017739.4(POMGNT1):c.752A>T (p.Glu251Val) rs2148200734
NM_017739.4(POMGNT1):c.768G>C (p.Trp256Cys)
NM_017739.4(POMGNT1):c.780G>C (p.Glu260Asp)
NM_017739.4(POMGNT1):c.782T>C (p.Leu261Pro)
NM_017739.4(POMGNT1):c.7G>C (p.Asp3His) rs201637813
NM_017739.4(POMGNT1):c.808A>G (p.Ser270Gly) rs1216011919
NM_017739.4(POMGNT1):c.821G>A (p.Gly274Asp) rs1557674820
NM_017739.4(POMGNT1):c.842G>T (p.Cys281Phe) rs1658035130
NM_017739.4(POMGNT1):c.857C>A (p.Pro286His)
NM_017739.4(POMGNT1):c.871C>T (p.Pro291Ser)
NM_017739.4(POMGNT1):c.874G>C (p.Asp292His) rs930277247
NM_017739.4(POMGNT1):c.913G>T (p.Ala305Ser)
NM_017739.4(POMGNT1):c.914C>T (p.Ala305Val) rs2148196499
NM_017739.4(POMGNT1):c.921T>A (p.Ile307=) rs71653997
NM_017739.4(POMGNT1):c.927G>T (p.Gly309=) rs1375679237
NM_017739.4(POMGNT1):c.937A>C (p.Asn313His)
NM_017739.4(POMGNT1):c.938A>G (p.Asn313Ser)
NM_017739.4(POMGNT1):c.950G>A (p.Arg317Lys) rs1657992159
NM_017739.4(POMGNT1):c.97C>T (p.Arg33Trp) rs750839370
NM_017739.4(POMGNT1):c.997A>G (p.Ile333Val)
NM_021971.4(GMPPB):c.1009T>C (p.Tyr337His) rs1553691683
NM_021971.4(GMPPB):c.1027G>A (p.Val343Met)
NM_021971.4(GMPPB):c.1036C>T (p.His346Tyr)
NM_021971.4(GMPPB):c.1040A>G (p.Lys347Arg) rs776117691
NM_021971.4(GMPPB):c.1046T>C (p.Ile349Thr)
NM_021971.4(GMPPB):c.106C>T (p.His36Tyr)
NM_021971.4(GMPPB):c.1077C>G (p.Ile359Met) rs1553691662
NM_021971.4(GMPPB):c.116A>G (p.Glu39Gly) rs1575297274
NM_021971.4(GMPPB):c.128C>T (p.Ala43Val) rs2080459950
NM_021971.4(GMPPB):c.129+3A>G
NM_021971.4(GMPPB):c.129+6A>C
NM_021971.4(GMPPB):c.129G>A (p.Ala43=) rs2108213396
NM_021971.4(GMPPB):c.15C>G (p.Ile5Met) rs1464233491
NM_021971.4(GMPPB):c.170_171delinsTC (p.Ser57Phe)
NM_021971.4(GMPPB):c.183G>C (p.Glu61Asp)
NM_021971.4(GMPPB):c.188A>C (p.Glu63Ala)
NM_021971.4(GMPPB):c.191T>G (p.Met64Arg)
NM_021971.4(GMPPB):c.215G>A (p.Gly72Glu) rs1245162935
NM_021971.4(GMPPB):c.218T>C (p.Ile73Thr) rs1553692045
NM_021971.4(GMPPB):c.221G>C (p.Arg74Pro)
NM_021971.4(GMPPB):c.244G>A (p.Glu82Lys)
NM_021971.4(GMPPB):c.247C>G (p.Pro83Ala) rs2080451480
NM_021971.4(GMPPB):c.259+3C>G
NM_021971.4(GMPPB):c.259+6T>C rs2080451289
NM_021971.4(GMPPB):c.271G>A (p.Ala91Thr)
NM_021971.4(GMPPB):c.287_307del (p.Leu96_Asp102del) rs1559697587
NM_021971.4(GMPPB):c.288_290dup (p.Leu97dup) rs777323266
NM_021971.4(GMPPB):c.296A>G (p.Glu99Gly)
NM_021971.4(GMPPB):c.299C>T (p.Thr100Ile) rs1359728758
NM_021971.4(GMPPB):c.304G>A (p.Asp102Asn) rs368542417
NM_021971.4(GMPPB):c.312C>A (p.Phe104Leu)
NM_021971.4(GMPPB):c.331G>A (p.Val111Met) rs141201072
NM_021971.4(GMPPB):c.338G>A (p.Cys113Tyr)
NM_021971.4(GMPPB):c.340G>T (p.Asp114Tyr)
NM_021971.4(GMPPB):c.374G>A (p.Arg125Gln) rs758366693
NM_021971.4(GMPPB):c.388_389delinsAG (p.Glu130Arg) rs2080445379
NM_021971.4(GMPPB):c.402+7C>T rs746420101
NM_021971.4(GMPPB):c.433G>A (p.Gly145Ser) rs771732077
NM_021971.4(GMPPB):c.434G>C (p.Gly145Ala) rs2080436965
NM_021971.4(GMPPB):c.472C>T (p.Arg158Trp)
NM_021971.4(GMPPB):c.473G>C (p.Arg158Pro) rs374497499
NM_021971.4(GMPPB):c.478G>C (p.Val160Leu) rs752805529
NM_021971.4(GMPPB):c.503C>A (p.Ser168Tyr)
NM_021971.4(GMPPB):c.510G>C (p.Lys170Asn) rs2080435262
NM_021971.4(GMPPB):c.524T>C (p.Met175Thr)
NM_021971.4(GMPPB):c.535A>G (p.Ser179Gly) rs2080434558
NM_021971.4(GMPPB):c.562-7C>G rs2108211626
NM_021971.4(GMPPB):c.563T>C (p.Leu188Pro) rs781132109
NM_021971.4(GMPPB):c.569C>G (p.Pro190Arg) rs1559697016
NM_021971.4(GMPPB):c.584A>G (p.Lys195Arg)
NM_021971.4(GMPPB):c.584AGG[1] (p.Glu196del)
NM_021971.4(GMPPB):c.586G>C (p.Glu196Gln)
NM_021971.4(GMPPB):c.589G>T (p.Val197Phe) rs2080431779
NM_021971.4(GMPPB):c.607_609del (p.Lys203del) rs1553691853
NM_021971.4(GMPPB):c.614G>A (p.Gly205Glu)
NM_021971.4(GMPPB):c.62C>A (p.Thr21Asn) rs1438380704
NM_021971.4(GMPPB):c.638A>G (p.Gln213Arg) rs2080430729
NM_021971.4(GMPPB):c.641-19_641-9del rs2080428796
NM_021971.4(GMPPB):c.68A>G (p.Lys23Arg)
NM_021971.4(GMPPB):c.714G>T (p.Gln238His)
NM_021971.4(GMPPB):c.71C>T (p.Pro24Leu) rs2108213481
NM_021971.4(GMPPB):c.741C>T (p.Gly247=) rs2108211246
NM_021971.4(GMPPB):c.746G>A (p.Gly249Asp) rs994922049
NM_021971.4(GMPPB):c.757A>G (p.Asn253Asp) rs1015055492
NM_021971.4(GMPPB):c.758A>G (p.Asn253Ser) rs1559696765
NM_021971.4(GMPPB):c.769-10C>G rs2108211080
NM_021971.4(GMPPB):c.786C>G (p.Ile262Met) rs201123231
NM_021971.4(GMPPB):c.792G>C (p.Gln264His) rs1559696652
NM_021971.4(GMPPB):c.805G>T (p.Gly269Cys)
NM_021971.4(GMPPB):c.832G>A (p.Val278Met)
NM_021971.4(GMPPB):c.841G>A (p.Glu281Lys)
NM_021971.4(GMPPB):c.850G>A (p.Val284Met) rs2108210918
NM_021971.4(GMPPB):c.854G>T (p.Cys285Phe) rs2108210916
NM_021971.4(GMPPB):c.863G>C (p.Arg288Pro) rs769346834
NM_021971.4(GMPPB):c.878G>A (p.Arg293Gln) rs748809549
NM_021971.4(GMPPB):c.907C>T (p.Leu303Phe) rs2080420731
NM_021971.4(GMPPB):c.918C>G (p.Cys306Trp) rs1186936513
NM_021971.4(GMPPB):c.923T>G (p.Val308Gly) rs750488885
NM_021971.4(GMPPB):c.929G>T (p.Trp310Leu)
NM_021971.4(GMPPB):c.935G>C (p.Cys312Ser)
NM_021971.4(GMPPB):c.938G>T (p.Arg313Leu) rs775910135
NM_021971.4(GMPPB):c.940G>A (p.Val314Met) rs1343235792
NM_021971.4(GMPPB):c.940G>T (p.Val314Leu) rs1343235792
NM_021971.4(GMPPB):c.94C>T (p.Pro32Ser) rs1575297292
NM_021971.4(GMPPB):c.951G>T (p.Trp317Cys)
NM_021971.4(GMPPB):c.952-2A>G rs372512288
NM_021971.4(GMPPB):c.967G>A (p.Val323Met) rs758284245
NM_021971.4(GMPPB):c.967G>T (p.Val323Leu) rs758284245
NM_021971.4(GMPPB):c.997A>T (p.Asn333Tyr) rs2080415182
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup) rs1599938256
NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)
NM_024301.5(FKRP):c.1123T>A (p.Cys375Ser) rs763940706
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.122G>T (p.Arg41Leu) rs201497063
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) rs1555738085
NM_024301.5(FKRP):c.1366G>A (p.Gly456Ser) rs2054938604
NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup) rs1220815256
NM_024301.5(FKRP):c.282C>T (p.Pro94=) rs1267805674
NM_024301.5(FKRP):c.541C>T (p.Arg181Cys) rs777245868
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.616G>A (p.Asp206Asn) rs1037585549
NM_024301.5(FKRP):c.649C>A (p.Pro217Thr) rs2122620422
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys) rs2122621481
NM_024301.5(FKRP):c.763T>A (p.Trp255Arg) rs2054916842
NM_024301.5(FKRP):c.835T>C (p.Trp279Arg) rs2054919937
NM_024301.5(FKRP):c.838G>A (p.Glu280Lys) rs2054920081
NM_024301.5(FKRP):c.881C>A (p.Thr294Lys) rs1333089122
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.934C>G (p.Arg312Gly)
NM_133642.5(LARGE1):c.*479A>T rs886057459
NM_133642.5(LARGE1):c.*501T>C rs886057457
NM_133642.5(LARGE1):c.*639T>G rs373361875
NM_133642.5(LARGE1):c.*995T>C rs1928531659
NM_133642.5(LARGE1):c.-202C>A rs946350081
NM_133642.5(LARGE1):c.-292G>C rs886057466
NM_133642.5(LARGE1):c.-377C>G rs1218154642
NM_133642.5(LARGE1):c.1002C>A (p.Asp334Glu) rs2147134497
NM_133642.5(LARGE1):c.1005+3G>A
NM_133642.5(LARGE1):c.1005+5G>A rs1204892970
NM_133642.5(LARGE1):c.1016A>G (p.Asn339Ser)
NM_133642.5(LARGE1):c.1019C>T (p.Ala340Val)
NM_133642.5(LARGE1):c.1021G>A (p.Val341Ile)
NM_133642.5(LARGE1):c.106+1218_106+5708del
NM_133642.5(LARGE1):c.106+3A>T
NM_133642.5(LARGE1):c.1093C>T (p.Arg365Cys) rs1361308052
NM_133642.5(LARGE1):c.1131+12_1131+13insAACAGAGGGACATCCCTGGAGGTAGGGTG rs2147112788
NM_133642.5(LARGE1):c.1131+4G>A
NM_133642.5(LARGE1):c.1138C>G (p.His380Asp) rs1938648531
NM_133642.5(LARGE1):c.115C>T (p.Pro39Ser)
NM_133642.5(LARGE1):c.1162C>T (p.Arg388Trp) rs767127452
NM_133642.5(LARGE1):c.118G>C (p.Val40Leu) rs188675457
NM_133642.5(LARGE1):c.118G>T (p.Val40Leu) rs188675457
NM_133642.5(LARGE1):c.1192C>T (p.Arg398Cys) rs1376994263
NM_133642.5(LARGE1):c.1196A>C (p.Asn399Thr)
NM_133642.5(LARGE1):c.1201_1202delinsCT (p.Tyr401Leu) rs1938639225
NM_133642.5(LARGE1):c.1225G>A (p.Gly409Ser) rs1555898776
NM_133642.5(LARGE1):c.122C>T (p.Ser41Phe)
NM_133642.5(LARGE1):c.1250T>G (p.Phe417Cys)
NM_133642.5(LARGE1):c.1261A>G (p.Ser421Gly) rs905900345
NM_133642.5(LARGE1):c.1272T>A (p.Asp424Glu)
NM_133642.5(LARGE1):c.1279A>G (p.Ser427Gly) rs1938625368
NM_133642.5(LARGE1):c.1287+2dup rs2146570024
NM_133642.5(LARGE1):c.1288-7C>G
NM_133642.5(LARGE1):c.1288C>G (p.Leu430Val) rs775051738
NM_133642.5(LARGE1):c.1308G>C (p.Glu436Asp)
NM_133642.5(LARGE1):c.1321G>A (p.Asp441Asn) rs915849571
NM_133642.5(LARGE1):c.1339C>T (p.Arg447Trp)
NM_133642.5(LARGE1):c.1343G>A (p.Arg448Gln) rs1064796524
NM_133642.5(LARGE1):c.1348C>T (p.Arg450Cys) rs754744384
NM_133642.5(LARGE1):c.1357G>A (p.Val453Ile)
NM_133642.5(LARGE1):c.1385A>G (p.His462Arg) rs775726150
NM_133642.5(LARGE1):c.1396G>A (p.Glu466Lys) rs774223611
NM_133642.5(LARGE1):c.140C>T (p.Ser47Phe) rs1427588155
NM_133642.5(LARGE1):c.1411A>G (p.Ser471Gly) rs1936127827
NM_133642.5(LARGE1):c.1420G>T (p.Val474Phe) rs150861748
NM_133642.5(LARGE1):c.1426C>A (p.Leu476Met) rs369168322
NM_133642.5(LARGE1):c.1433C>T (p.Ala478Val)
NM_133642.5(LARGE1):c.1457A>G (p.Gln486Arg) rs925299001
NM_133642.5(LARGE1):c.1487A>G (p.Glu496Gly)
NM_133642.5(LARGE1):c.1497C>G (p.Ile499Met)
NM_133642.5(LARGE1):c.152G>A (p.Ser51Asn) rs758152995
NM_133642.5(LARGE1):c.1549G>A (p.Ala517Thr)
NM_133642.5(LARGE1):c.1570A>T (p.Met524Leu) rs2146165030
NM_133642.5(LARGE1):c.1586T>C (p.Val529Ala) rs2146164640
NM_133642.5(LARGE1):c.1600G>A (p.Val534Met) rs1428533575
NM_133642.5(LARGE1):c.1601T>C (p.Val534Ala)
NM_133642.5(LARGE1):c.1640G>A (p.Arg547His) rs1232298989
NM_133642.5(LARGE1):c.164C>A (p.Thr55Lys)
NM_133642.5(LARGE1):c.1656G>C (p.Lys552Asn) rs138573955
NM_133642.5(LARGE1):c.1676T>A (p.Met559Lys) rs2146163535
NM_133642.5(LARGE1):c.1685C>T (p.Ser562Phe) rs2146163397
NM_133642.5(LARGE1):c.1743C>G (p.Ile581Met) rs747357315
NM_133642.5(LARGE1):c.1750G>A (p.Asp584Asn)
NM_133642.5(LARGE1):c.1759A>G (p.Asn587Asp) rs749685972
NM_133642.5(LARGE1):c.1765A>G (p.Lys589Glu) rs1602229899
NM_133642.5(LARGE1):c.176A>T (p.Gln59Leu) rs2080769500
NM_133642.5(LARGE1):c.1772C>T (p.Ala591Val)
NM_133642.5(LARGE1):c.1802G>A (p.Arg601His) rs771376144
NM_133642.5(LARGE1):c.1808G>A (p.Arg603Gln)
NM_133642.5(LARGE1):c.1846A>T (p.Met616Leu) rs781142917
NM_133642.5(LARGE1):c.1849C>A (p.Leu617Met)
NM_133642.5(LARGE1):c.185G>A (p.Arg62His)
NM_133642.5(LARGE1):c.185G>T (p.Arg62Leu) rs777156706
NM_133642.5(LARGE1):c.1862C>T (p.Thr621Ile) rs1930806932
NM_133642.5(LARGE1):c.1864C>G (p.Leu622Val)
NM_133642.5(LARGE1):c.1880A>C (p.Tyr627Ser)
NM_133642.5(LARGE1):c.188A>G (p.Glu63Gly) rs539747006
NM_133642.5(LARGE1):c.1903G>A (p.Ala635Thr) rs150325234
NM_133642.5(LARGE1):c.1927C>T (p.Arg643Trp)
NM_133642.5(LARGE1):c.1940C>T (p.Thr647Met)
NM_133642.5(LARGE1):c.1948C>T (p.Arg650Trp)
NM_133642.5(LARGE1):c.1966G>A (p.Asp656Asn)
NM_133642.5(LARGE1):c.1976C>T (p.Pro659Leu) rs778669044
NM_133642.5(LARGE1):c.1978T>C (p.Tyr660His)
NM_133642.5(LARGE1):c.1991G>C (p.Arg664Thr) rs1929475941
NM_133642.5(LARGE1):c.1998C>G (p.Asp666Glu) rs144197077
NM_133642.5(LARGE1):c.2073+12G>A rs377566674
NM_133642.5(LARGE1):c.2078A>G (p.Tyr693Cys)
NM_133642.5(LARGE1):c.2082_2105del (p.Glu694_Tyr702delinsAsp) rs1928816149
NM_133642.5(LARGE1):c.2119C>G (p.Pro707Ala)
NM_133642.5(LARGE1):c.2152C>T (p.Arg718Cys)
NM_133642.5(LARGE1):c.2153G>C (p.Arg718Pro) rs1263627262
NM_133642.5(LARGE1):c.2171G>A (p.Arg724His) rs376907568
NM_133642.5(LARGE1):c.2175C>G (p.Ile725Met) rs1928785534
NM_133642.5(LARGE1):c.2206C>G (p.Gln736Glu) rs2145801430
NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys) rs757062605
NM_133642.5(LARGE1):c.2212A>G (p.Met738Val) rs1928773545
NM_133642.5(LARGE1):c.2219G>A (p.Arg740His)
NM_133642.5(LARGE1):c.2221C>T (p.Arg741Cys)
NM_133642.5(LARGE1):c.2256C>A (p.Ala752=) rs114246562
NM_133642.5(LARGE1):c.2261ACA[1] (p.Asn755del)
NM_133642.5(LARGE1):c.229C>G (p.Arg77Gly)
NM_133642.5(LARGE1):c.246G>T (p.Gln82His) rs768234422
NM_133642.5(LARGE1):c.247C>T (p.Leu83Phe) rs748795300
NM_133642.5(LARGE1):c.251G>T (p.Ser84Ile) rs398124184
NM_133642.5(LARGE1):c.254_259dup (p.Leu85_Ala86dup) rs759978690
NM_133642.5(LARGE1):c.281G>A (p.Arg94His) rs754383742
NM_133642.5(LARGE1):c.287G>A (p.Gly96Asp) rs1569341949
NM_133642.5(LARGE1):c.312G>A (p.Met104Ile)
NM_133642.5(LARGE1):c.326G>C (p.Gly109Ala) rs2149181937
NM_133642.5(LARGE1):c.336G>T (p.Glu112Asp) rs1555983855
NM_133642.5(LARGE1):c.344G>T (p.Arg115Leu) rs755087786
NM_133642.5(LARGE1):c.366C>A (p.Asn122Lys) rs2080759268
NM_133642.5(LARGE1):c.374A>T (p.Glu125Val)
NM_133642.5(LARGE1):c.392T>C (p.Val131Ala)
NM_133642.5(LARGE1):c.394G>A (p.Val132Met) rs913704656
NM_133642.5(LARGE1):c.408+5A>G
NM_133642.5(LARGE1):c.421G>A (p.Ala141Thr)
NM_133642.5(LARGE1):c.443A>G (p.Asn148Ser)
NM_133642.5(LARGE1):c.445G>T (p.Ala149Ser)
NM_133642.5(LARGE1):c.473A>C (p.Lys158Thr)
NM_133642.5(LARGE1):c.479T>G (p.Val160Gly) rs1372134080
NM_133642.5(LARGE1):c.47T>G (p.Leu16Trp) rs2145729155
NM_133642.5(LARGE1):c.488A>G (p.His163Arg) rs2149076676
NM_133642.5(LARGE1):c.493C>T (p.Arg165Trp) rs765312193
NM_133642.5(LARGE1):c.512A>G (p.His171Arg) rs2148979441
NM_133642.5(LARGE1):c.52C>T (p.Leu18Phe)
NM_133642.5(LARGE1):c.542T>A (p.Ile181Asn) rs2079198073
NM_133642.5(LARGE1):c.569T>A (p.Met190Lys) rs2079196838
NM_133642.5(LARGE1):c.592T>A (p.Phe198Ile) rs2148978976
NM_133642.5(LARGE1):c.594C>A (p.Phe198Leu)
NM_133642.5(LARGE1):c.599A>G (p.Asn200Ser) rs2148978936
NM_133642.5(LARGE1):c.606C>G (p.Asp202Glu) rs759394642
NM_133642.5(LARGE1):c.621A>C (p.Glu207Asp) rs926834717
NM_133642.5(LARGE1):c.691C>A (p.Leu231Ile)
NM_133642.5(LARGE1):c.728C>T (p.Thr243Met)
NM_133642.5(LARGE1):c.731A>G (p.Asp244Gly)
NM_133642.5(LARGE1):c.73A>G (p.Thr25Ala) rs1556032013
NM_133642.5(LARGE1):c.746C>A (p.Thr249Asn) rs1256101536
NM_133642.5(LARGE1):c.752T>A (p.Ile251Asn) rs2077976439
NM_133642.5(LARGE1):c.784A>G (p.Lys262Glu)
NM_133642.5(LARGE1):c.856C>T (p.Arg286Cys)
NM_133642.5(LARGE1):c.872T>A (p.Leu291His)
NM_133642.5(LARGE1):c.893-9_893-8insATCCTGTGCTGCTGCCCAGGGGTG
NM_133642.5(LARGE1):c.895G>A (p.Val299Met) rs1490201857
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) rs563144239
NM_133642.5(LARGE1):c.922_923delinsAA (p.Arg308Lys) rs2147135450
NM_133642.5(LARGE1):c.940C>G (p.Gln314Glu) rs559892854
NM_133642.5(LARGE1):c.942G>T (p.Gln314His) rs776701293
NM_133642.5(LARGE1):c.958G>T (p.Ala320Ser) rs374774937
NM_133642.5(LARGE1):c.969G>T (p.Glu323Asp) rs2065251813
NM_133642.5(LARGE1):c.974T>C (p.Met325Thr) rs2065251491

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.