ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 856
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.876T>C (p.Thr292=) rs10901065 0.88277
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=) rs3739494 0.88273
NM_001077365.2(POMT1):c.428-21T>C rs11243404 0.88267
NM_001077365.2(POMT1):c.699+53A>G rs2296949 0.88248
NM_001077365.2(POMT1):c.2003+13C>T rs4740165 0.84044
NM_001077365.2(POMT1):c.1082+16G>A rs59515295 0.14451
NM_001077365.2(POMT1):c.699+53= rs2296949 0.11752
NM_001077365.2(POMT1):c.1047= (p.Asp349=) rs3739494 0.11727
NM_001077365.2(POMT1):c.876= (p.Thr292=) rs10901065 0.11723
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174 0.02004
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566 0.01621
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653 0.01037
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383 0.01019
NM_001077365.2(POMT1):c.1825+19del rs11345097 0.00998
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00980
NM_001077365.2(POMT1):c.1826-6C>A rs140258585 0.00816
NM_001077365.2(POMT1):c.1826-7C>A rs148180760 0.00816
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_001077365.2(POMT1):c.1585-14C>T rs78529026 0.00332
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947 0.00264
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619 0.00181
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524 0.00166
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476 0.00153
NM_001077365.2(POMT1):c.1486+14G>A rs142995404 0.00118
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130 0.00088
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00077
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094 0.00071
NM_001077365.2(POMT1):c.2004-20C>T rs372767898 0.00061
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126 0.00050
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045
NM_001077365.2(POMT1):c.855+6T>C rs200692465 0.00031
NM_001077365.2(POMT1):c.1175+16G>A rs371908251 0.00030
NM_001077365.2(POMT1):c.1698+10C>A rs184131819 0.00029
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646 0.00026
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_001077365.2(POMT1):c.1671T>C (p.Ile557=) rs200969468 0.00024
NM_001077365.2(POMT1):c.539+19C>T rs376642449 0.00023
NM_001077365.2(POMT1):c.629C>T (p.Thr210Met) rs377037072 0.00023
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.1614C>T (p.Asp538=) rs141933812 0.00021
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763 0.00021
NM_001077365.2(POMT1):c.1116T>C (p.Pro372=) rs146945848 0.00020
NM_001077365.2(POMT1):c.1175+15C>T rs200398689 0.00017
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900 0.00017
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642 0.00016
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760 0.00015
NM_001077365.2(POMT1):c.606-15G>C rs201897506 0.00015
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419 0.00014
NM_001077365.2(POMT1):c.246C>T (p.Phe82=) rs148887050 0.00014
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) rs190112934 0.00014
NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser) rs139774354 0.00013
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) rs373482514 0.00012
NM_001077365.2(POMT1):c.396C>T (p.Ala132=) rs375288218 0.00012
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210 0.00012
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413 0.00011
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=) rs200916353 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_001077365.2(POMT1):c.921G>T (p.Leu307=) rs371243573 0.00011
NM_001077365.2(POMT1):c.1252G>A (p.Ala418Thr) rs142057517 0.00010
NM_001077365.2(POMT1):c.2067C>T (p.His689=) rs141895982 0.00010
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523 0.00010
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299 0.00009
NM_001077365.2(POMT1):c.1740G>A (p.Ser580=) rs148758906 0.00009
NM_001077365.2(POMT1):c.1826-17C>T rs377691462 0.00009
NM_001077365.2(POMT1):c.427+12G>A rs372588957 0.00009
NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser) rs182295674 0.00009
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530 0.00009
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_001077365.2(POMT1):c.1486+10C>T rs373393733 0.00008
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_001077365.2(POMT1):c.1365+10C>T rs200089530 0.00007
NM_001077365.2(POMT1):c.1448G>A (p.Ser483Asn) rs750937093 0.00007
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met) rs201220016 0.00007
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=) rs376373313 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_001077365.2(POMT1):c.1163G>A (p.Arg388His) rs138640226 0.00006
NM_001077365.2(POMT1):c.1251C>T (p.Pro417=) rs376749638 0.00006
NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val) rs369651101 0.00006
NM_001077365.2(POMT1):c.1486+9G>A rs547775333 0.00006
NM_001077365.2(POMT1):c.1698+7G>A rs367775263 0.00006
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559 0.00006
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=) rs778418119 0.00006
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133 0.00006
NM_001077365.2(POMT1):c.30G>A (p.Val10=) rs201533471 0.00006
NM_001077365.2(POMT1):c.332C>T (p.Ala111Val) rs371531181 0.00006
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203 0.00006
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380 0.00006
NM_001077365.2(POMT1):c.1366-6C>T rs781702944 0.00005
NM_001077365.2(POMT1):c.1444G>A (p.Gly482Arg) rs372354077 0.00005
NM_001077365.2(POMT1):c.1487-5G>T rs747783069 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.1825+17C>T rs200195080 0.00005
NM_001077365.2(POMT1):c.1866C>T (p.Ala622=) rs200652115 0.00005
NM_001077365.2(POMT1):c.198G>A (p.Pro66=) rs369877185 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_001077365.2(POMT1):c.1175+13G>A rs777087288 0.00004
NM_001077365.2(POMT1):c.123-13T>G rs773958478 0.00004
NM_001077365.2(POMT1):c.123-6T>C rs201486083 0.00004
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621 0.00004
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.1798C>T (p.Arg600Ter) rs794727208 0.00004
NM_001077365.2(POMT1):c.1990G>A (p.Asp664Asn) rs145635821 0.00004
NM_001077365.2(POMT1):c.2003+9G>A rs368975092 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.310C>T (p.Leu104=) rs146982282 0.00004
NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe) rs141833028 0.00004
NM_001077365.2(POMT1):c.579A>G (p.Thr193=) rs775408856 0.00004
NM_001077365.2(POMT1):c.620G>A (p.Gly207Asp) rs765733801 0.00004
NM_001077365.2(POMT1):c.699+85C>G rs369000699 0.00004
NM_001077365.2(POMT1):c.699+86C>T rs775951652 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.111G>C (p.Pro37=) rs761641734 0.00003
NM_001077365.2(POMT1):c.1302C>T (p.Asp434=) rs568246978 0.00003
NM_001077365.2(POMT1):c.1366-11G>A rs1157478556 0.00003
NM_001077365.2(POMT1):c.1366-12C>T rs757666938 0.00003
NM_001077365.2(POMT1):c.1488C>T (p.Ser496=) rs727503872 0.00003
NM_001077365.2(POMT1):c.1584+10G>A rs377495957 0.00003
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171 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.291C>T (p.Ser97=) rs780884926 0.00003
NM_001077365.2(POMT1):c.294C>T (p.Asn98=) rs745810979 0.00003
NM_001077365.2(POMT1):c.328C>T (p.Leu110Phe) rs1338443127 0.00003
NM_001077365.2(POMT1):c.600A>G (p.Ala200=) rs755854450 0.00003
NM_001077365.2(POMT1):c.630G>A (p.Thr210=) rs553160213 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_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.1176-17C>T rs748114656 0.00002
NM_001077365.2(POMT1):c.1196del (p.Leu399fs) rs768144522 0.00002
NM_001077365.2(POMT1):c.123-20G>T rs746071589 0.00002
NM_001077365.2(POMT1):c.1272+17C>T rs544783137 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys) rs752384050 0.00002
NM_001077365.2(POMT1):c.141T>C (p.Tyr47=) rs752941420 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+1G>A rs763586263 0.00002
NM_001077365.2(POMT1):c.1698+6C>T rs180847856 0.00002
NM_001077365.2(POMT1):c.1699-19A>G rs761855332 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.1826-16G>A rs781195768 0.00002
NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr) rs773190071 0.00002
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg) rs119462983 0.00002
NM_001077365.2(POMT1):c.2027T>C (p.Phe676Ser) rs1201402718 0.00002
NM_001077365.2(POMT1):c.2064C>T (p.Cys688=) rs1335756801 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.36G>A (p.Thr12=) rs201262353 0.00002
NM_001077365.2(POMT1):c.401T>C (p.Met134Thr) rs780170650 0.00002
NM_001077365.2(POMT1):c.408T>G (p.Ala136=) rs748757994 0.00002
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer) rs746696167 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_001077365.2(POMT1):c.1014C>T (p.His338=) rs886043203 0.00001
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.1068A>G (p.Val356=) rs1280401262 0.00001
NM_001077365.2(POMT1):c.1074T>A (p.Asp358Glu) rs765263668 0.00001
NM_001077365.2(POMT1):c.1082+19A>G rs1454823245 0.00001
NM_001077365.2(POMT1):c.1101C>T (p.Ser367=) rs771523115 0.00001
NM_001077365.2(POMT1):c.1129G>A (p.Asp377Asn) rs886044066 0.00001
NM_001077365.2(POMT1):c.1166C>T (p.Ser389Phe) rs201587241 0.00001
NM_001077365.2(POMT1):c.1167C>T (p.Ser389=) rs1210555820 0.00001
NM_001077365.2(POMT1):c.1175+1G>A rs1051679985 0.00001
NM_001077365.2(POMT1):c.1176-2A>G rs746523421 0.00001
NM_001077365.2(POMT1):c.1193C>T (p.Pro398Leu) rs776388419 0.00001
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615 0.00001
NM_001077365.2(POMT1):c.1281G>A (p.Val427=) rs139720304 0.00001
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys) rs1397478363 0.00001
NM_001077365.2(POMT1):c.1331G>A (p.Arg444His) rs758736387 0.00001
NM_001077365.2(POMT1):c.1341C>T (p.His447=) rs200731790 0.00001
NM_001077365.2(POMT1):c.1353C>A (p.Ser451=) rs144385159 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.1371C>T (p.Ser457=) rs746412899 0.00001
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser) rs746849558 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.1443C>T (p.His481=) rs139415150 0.00001
NM_001077365.2(POMT1):c.1452G>A (p.Thr484=) rs145164375 0.00001
NM_001077365.2(POMT1):c.1462G>A (p.Val488Met) rs748365119 0.00001
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) rs119462985 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.1486+11G>A rs755682718 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.1575G>A (p.Ser525=) rs753468585 0.00001
NM_001077365.2(POMT1):c.1584+9C>T rs1219705170 0.00001
NM_001077365.2(POMT1):c.1616C>T (p.Ser539Leu) rs754907726 0.00001
NM_001077365.2(POMT1):c.1617G>A (p.Ser539=) rs778687698 0.00001
NM_001077365.2(POMT1):c.1668T>C (p.Asn556=) rs1445855043 0.00001
NM_001077365.2(POMT1):c.1758C>T (p.Ala586=) rs373374873 0.00001
NM_001077365.2(POMT1):c.1764C>T (p.Tyr588=) rs773343894 0.00001
NM_001077365.2(POMT1):c.1765G>A (p.Ala589Thr) rs747138675 0.00001
NM_001077365.2(POMT1):c.1773G>A (p.Leu591=) rs762810201 0.00001
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter) rs761848742 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.1893G>A (p.Pro631=) rs749582742 0.00001
NM_001077365.2(POMT1):c.1938C>T (p.Pro646=) rs1481940320 0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987 0.00001
NM_001077365.2(POMT1):c.1989C>T (p.Ser663=) rs764451132 0.00001
NM_001077365.2(POMT1):c.1995C>T (p.His665=) rs768108650 0.00001
NM_001077365.2(POMT1):c.2003+4C>T rs766635497 0.00001
NM_001077365.2(POMT1):c.2004-19G>A rs757031997 0.00001
NM_001077365.2(POMT1):c.2058C>T (p.Ser686=) rs886043948 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.2079G>A (p.Thr693=) rs200603905 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.280+1G>T rs746823238 0.00001
NM_001077365.2(POMT1):c.301G>C (p.Val101Leu) rs199552424 0.00001
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys) rs1289335417 0.00001
NM_001077365.2(POMT1):c.345G>A (p.Ser115=) rs147212285 0.00001
NM_001077365.2(POMT1):c.426C>T (p.Ile142=) rs771390000 0.00001
NM_001077365.2(POMT1):c.427+11C>T rs765291250 0.00001
NM_001077365.2(POMT1):c.427+8C>T rs201727519 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+13G>T rs749842555 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.585C>T (p.Val195=) rs764110407 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001077365.2(POMT1):c.605+1G>T rs766648827 0.00001
NM_001077365.2(POMT1):c.606-9T>C rs760178838 0.00001
NM_001077365.2(POMT1):c.614A>G (p.Tyr205Cys) rs1312643563 0.00001
NM_001077365.2(POMT1):c.639C>T (p.Leu213=) rs267602149 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.699+33G>A rs750646014 0.00001
NM_001077365.2(POMT1):c.699+62del rs1356791510 0.00001
NM_001077365.2(POMT1):c.699+67G>A rs776061161 0.00001
NM_001077365.2(POMT1):c.699+68T>C rs759254028 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.723C>T (p.Leu241=) rs765290860 0.00001
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679 0.00001
NM_001077365.2(POMT1):c.753G>A (p.Pro251=) rs748485512 0.00001
NM_001077365.2(POMT1):c.756C>A (p.Val252=) rs1286632929 0.00001
NM_001077365.2(POMT1):c.774C>T (p.Phe258=) rs761217834 0.00001
NM_001077365.2(POMT1):c.780C>T (p.Tyr260=) rs776755041 0.00001
NM_001077365.2(POMT1):c.783C>T (p.Val261=) rs765387571 0.00001
NM_001077365.2(POMT1):c.816C>T (p.His272=) rs191404622 0.00001
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) rs119462981 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.919C>T (p.Leu307=) rs983634068 0.00001
NM_001077365.2(POMT1):c.934G>A (p.Gly312Arg) rs1428763564 0.00001
NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter) rs759848847 0.00001
NM_001077365.2(POMT1):c.986+1G>A rs961071228 0.00001
NC_000009.11:g.(?_134389752)_(134390863_?)del
NC_000009.11:g.(?_134395447)_(134395600_?)dup
NC_000009.12:g.(?_130664644)_(131523116_?)dup
NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)
NM_001077365.2(POMT1):c.1020A>G (p.Gln340=)
NM_001077365.2(POMT1):c.1029C>A (p.Thr343=)
NM_001077365.2(POMT1):c.1029C>T (p.Thr343=)
NM_001077365.2(POMT1):c.1031G>A (p.Cys344Tyr)
NM_001077365.2(POMT1):c.1038del (p.Phe347fs)
NM_001077365.2(POMT1):c.1044A>G (p.Lys348=)
NM_001077365.2(POMT1):c.105C>A (p.Thr35=)
NM_001077365.2(POMT1):c.1061G>A (p.Trp354Ter)
NM_001077365.2(POMT1):c.1076C>T (p.Pro359Leu) rs1292313849
NM_001077365.2(POMT1):c.1078A>C (p.Arg360=)
NM_001077365.2(POMT1):c.1082+11G>C
NM_001077365.2(POMT1):c.1082+14_1082+33del
NM_001077365.2(POMT1):c.1082+18G>C
NM_001077365.2(POMT1):c.1082+19A>T rs1454823245
NM_001077365.2(POMT1):c.1082+9A>G
NM_001077365.2(POMT1):c.1083-11G>A
NM_001077365.2(POMT1):c.1083-20G>A
NM_001077365.2(POMT1):c.1083-7C>G rs1428085460
NM_001077365.2(POMT1):c.1083-9_1083-8del rs781619064
NM_001077365.2(POMT1):c.1086C>T (p.His362=)
NM_001077365.2(POMT1):c.1091del (p.Leu364fs) rs1947522752
NM_001077365.2(POMT1):c.1092G>A (p.Leu364=)
NM_001077365.2(POMT1):c.1100G>T (p.Ser367Ile)
NM_001077365.2(POMT1):c.1105C>T (p.Pro369Ser) rs2131707245
NM_001077365.2(POMT1):c.1110G>A (p.Pro370=)
NM_001077365.2(POMT1):c.111G>A (p.Pro37=) rs761641734
NM_001077365.2(POMT1):c.111G>T (p.Pro37=)
NM_001077365.2(POMT1):c.1125C>G (p.His375Gln) rs35242383
NM_001077365.2(POMT1):c.1128G>A (p.Gly376=)
NM_001077365.2(POMT1):c.1136_1137dup (p.Gln380fs)
NM_001077365.2(POMT1):c.1146C>T (p.Val382=) rs757429050
NM_001077365.2(POMT1):c.1152C>T (p.Gly384=)
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+10C>T rs1292261993
NM_001077365.2(POMT1):c.1175+12C>T rs890396848
NM_001077365.2(POMT1):c.1175+14C>T
NM_001077365.2(POMT1):c.1175+14_1175+16del
NM_001077365.2(POMT1):c.1175+16G>C
NM_001077365.2(POMT1):c.1175+18C>A
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077365.2(POMT1):c.1175+7G>T
NM_001077365.2(POMT1):c.1176-16G>A rs199684856
NM_001077365.2(POMT1):c.1176-16G>C rs199684856
NM_001077365.2(POMT1):c.1176-17C>G
NM_001077365.2(POMT1):c.1176-19C>G
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.1182dup (p.Val395fs)
NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp) rs1564364465
NM_001077365.2(POMT1):c.1194C>A (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1194C>T (p.Pro398=)
NM_001077365.2(POMT1):c.1195C>T (p.Leu399=)
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
NM_001077365.2(POMT1):c.1197G>A (p.Leu399=) rs764535220
NM_001077365.2(POMT1):c.1197G>C (p.Leu399=) rs764535220
NM_001077365.2(POMT1):c.1200C>T (p.Ser400=) rs886043851
NM_001077365.2(POMT1):c.1202C>T (p.Pro401Leu)
NM_001077365.2(POMT1):c.1203C>T (p.Pro401=)
NM_001077365.2(POMT1):c.1204dup (p.His402fs) rs2131749139
NM_001077365.2(POMT1):c.1206T>C (p.His402=)
NM_001077365.2(POMT1):c.120G>A (p.Val40=)
NM_001077365.2(POMT1):c.1211dup (p.Glu405fs)
NM_001077365.2(POMT1):c.122+10A>G
NM_001077365.2(POMT1):c.122+13_122+20dup
NM_001077365.2(POMT1):c.122+14C>T
NM_001077365.2(POMT1):c.122+15T>C
NM_001077365.2(POMT1):c.122+5G>A rs376753193
NM_001077365.2(POMT1):c.122+7T>C
NM_001077365.2(POMT1):c.1221C>T (p.Ser407=) rs1172989588
NM_001077365.2(POMT1):c.1224C>T (p.Cys408=) rs1392371349
NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys) rs1948104184
NM_001077365.2(POMT1):c.1229T>C (p.Ile410Thr) rs1554778053
NM_001077365.2(POMT1):c.123-11T>G
NM_001077365.2(POMT1):c.123-14G>T
NM_001077365.2(POMT1):c.123-17G>A
NM_001077365.2(POMT1):c.123-18T>G
NM_001077365.2(POMT1):c.123-18del rs1564331634
NM_001077365.2(POMT1):c.123-19T>C
NM_001077365.2(POMT1):c.123-20GTT[2] rs769392387
NM_001077365.2(POMT1):c.123-4C>T
NM_001077365.2(POMT1):c.123-5T>C
NM_001077365.2(POMT1):c.123-5del
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001077365.2(POMT1):c.123-7T>C
NM_001077365.2(POMT1):c.1235dup (p.Tyr412Ter)
NM_001077365.2(POMT1):c.1248G>T (p.Met416Ile)
NM_001077365.2(POMT1):c.1251C>A (p.Pro417=) rs376749638
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.1263C>T (p.Leu421=)
NM_001077365.2(POMT1):c.1272+10G>A
NM_001077365.2(POMT1):c.1272+11C>A
NM_001077365.2(POMT1):c.1272+14C>A
NM_001077365.2(POMT1):c.1272+14C>T rs775878866
NM_001077365.2(POMT1):c.1272+15G>A
NM_001077365.2(POMT1):c.1272+1G>A rs2131751359
NM_001077365.2(POMT1):c.1272+2T>C rs1564365317
NM_001077365.2(POMT1):c.1272+7A>G
NM_001077365.2(POMT1):c.1272+8A>G rs1948118898
NM_001077365.2(POMT1):c.1272G>T (p.Leu424=)
NM_001077365.2(POMT1):c.1273-10del rs2131847588
NM_001077365.2(POMT1):c.1273-11del
NM_001077365.2(POMT1):c.1273-15G>A
NM_001077365.2(POMT1):c.1273-17G>C
NM_001077365.2(POMT1):c.1273-18T>C
NM_001077365.2(POMT1):c.1273-2A>G
NM_001077365.2(POMT1):c.1273-9T>C
NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)
NM_001077365.2(POMT1):c.1293T>C (p.Ser431=)
NM_001077365.2(POMT1):c.1296C>T (p.Asp432=)
NM_001077365.2(POMT1):c.1318C>T (p.Leu440Phe)
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=) rs753403833
NM_001077365.2(POMT1):c.1326G>A (p.Glu442=) rs764970702
NM_001077365.2(POMT1):c.1335T>G (p.Phe445Leu) rs2131848570
NM_001077365.2(POMT1):c.1344G>A (p.Val448=)
NM_001077365.2(POMT1):c.1346A>G (p.Asn449Ser)
NM_001077365.2(POMT1):c.1347C>T (p.Asn449=)
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.1353C>T (p.Ser451=)
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter) rs1554780670
NM_001077365.2(POMT1):c.1364del (p.Lys455fs) rs1472946513
NM_001077365.2(POMT1):c.1365+11T>C
NM_001077365.2(POMT1):c.1365+14C>T
NM_001077365.2(POMT1):c.1365+16G>A
NM_001077365.2(POMT1):c.1365+9A>G rs2131849509
NM_001077365.2(POMT1):c.1366-12_1366-11dup
NM_001077365.2(POMT1):c.1366-20C>T
NM_001077365.2(POMT1):c.1371C>G (p.Ser457Arg) rs746412899
NM_001077365.2(POMT1):c.1380C>T (p.His460=)
NM_001077365.2(POMT1):c.1384C>T (p.Pro462Ser) rs1347678628
NM_001077365.2(POMT1):c.138T>C (p.Tyr46=)
NM_001077365.2(POMT1):c.1390T>C (p.Trp464Arg)
NM_001077365.2(POMT1):c.1390T>G (p.Trp464Gly) rs376126988
NM_001077365.2(POMT1):c.1392G>C (p.Trp464Cys)
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.1413C>A (p.Ile471=) rs769288290
NM_001077365.2(POMT1):c.1413C>T (p.Ile471=)
NM_001077365.2(POMT1):c.1419G>A (p.Gly473=)
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.1457G>A (p.Trp486Ter) rs1191391104
NM_001077365.2(POMT1):c.1458G>A (p.Trp486Ter)
NM_001077365.2(POMT1):c.145del (p.Gln49fs)
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.1470G>A (p.Glu490=)
NM_001077365.2(POMT1):c.1473C>T (p.His491=) rs770742841
NM_001077365.2(POMT1):c.1474C>A (p.Arg492=)
NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter) rs727502854
NM_001077365.2(POMT1):c.1482C>T (p.Gly494=)
NM_001077365.2(POMT1):c.1484C>A (p.Ala495Glu) rs761439623
NM_001077365.2(POMT1):c.1486+11G>T rs755682718
NM_001077365.2(POMT1):c.1486+12G>C
NM_001077365.2(POMT1):c.1486+13C>T
NM_001077365.2(POMT1):c.1486+18C>T
NM_001077365.2(POMT1):c.1486+20T>G
NM_001077365.2(POMT1):c.1486+8C>T
NM_001077365.2(POMT1):c.1486+9G>T
NM_001077365.2(POMT1):c.1487-10G>A
NM_001077365.2(POMT1):c.1487-18C>T
NM_001077365.2(POMT1):c.1497G>A (p.Gln499=)
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.1510C>A (p.Arg504=)
NM_001077365.2(POMT1):c.151A>T (p.Ile51Phe) rs886044651
NM_001077365.2(POMT1):c.1521C>G (p.His507Gln)
NM_001077365.2(POMT1):c.1524dup (p.Pro509fs)
NM_001077365.2(POMT1):c.1530G>A (p.Ala510=)
NM_001077365.2(POMT1):c.1535T>A (p.Val512Glu)
NM_001077365.2(POMT1):c.1536G>A (p.Val512=) rs1949458706
NM_001077365.2(POMT1):c.1538A>C (p.Asp513Ala)
NM_001077365.2(POMT1):c.1539C>T (p.Asp513=)
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.1551C>T (p.Asn517=)
NM_001077365.2(POMT1):c.1555A>G (p.Ser519Gly) rs1564381465
NM_001077365.2(POMT1):c.1560C>T (p.Phe520=) rs1588476051
NM_001077365.2(POMT1):c.1566G>A (p.Ala522=)
NM_001077365.2(POMT1):c.1570T>A (p.Phe524Ile)
NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys) rs1949475355
NM_001077365.2(POMT1):c.1581G>A (p.Leu527=) rs1378023866
NM_001077365.2(POMT1):c.1584+13C>T rs2131869164
NM_001077365.2(POMT1):c.1584+14A>G
NM_001077365.2(POMT1):c.1584+14del
NM_001077365.2(POMT1):c.1584+16G>T
NM_001077365.2(POMT1):c.1584+18G>A
NM_001077365.2(POMT1):c.1584+18dup
NM_001077365.2(POMT1):c.1584+20A>G
NM_001077365.2(POMT1):c.1585-16C>T
NM_001077365.2(POMT1):c.1585-16CT[3]
NM_001077365.2(POMT1):c.1585-18G>C
NM_001077365.2(POMT1):c.1585-19G>A
NM_001077365.2(POMT1):c.1585-20A>C
NM_001077365.2(POMT1):c.1585-2A>G rs2131880195
NM_001077365.2(POMT1):c.1585T>C (p.Trp529Arg) rs1949610411
NM_001077365.2(POMT1):c.1599G>A (p.Ala533=)
NM_001077365.2(POMT1):c.1602G>C (p.Leu534=)
NM_001077365.2(POMT1):c.1605A>G (p.Arg535=)
NM_001077365.2(POMT1):c.1608T>G (p.Ser536Arg) rs1588482215
NM_001077365.2(POMT1):c.160_161insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTACATCTCTTTTT (p.Tyr54delinsPhePhePhePhePheXaaXaaXaaXaaHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer) rs2131588122
NM_001077365.2(POMT1):c.1611T>C (p.Asp537=)
NM_001077365.2(POMT1):c.1629C>T (p.Tyr543=)
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
NM_001077365.2(POMT1):c.162C>T (p.Tyr54=)
NM_001077365.2(POMT1):c.1634C>G (p.Ser545Cys)
NM_001077365.2(POMT1):c.1637G>A (p.Ser546Asn)
NM_001077365.2(POMT1):c.1638C>G (p.Ser546Arg) rs2131881044
NM_001077365.2(POMT1):c.1641A>C (p.Pro547=) rs932156935
NM_001077365.2(POMT1):c.1644G>A (p.Leu548=) rs2131881178
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=) rs757830349
NM_001077365.2(POMT1):c.1657del (p.Leu553fs) rs794727190
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.1667del (p.Asn556fs)
NM_001077365.2(POMT1):c.1671del (p.Ile557fs) rs1949626483
NM_001077365.2(POMT1):c.1672G>T (p.Ala558Ser)
NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys) rs119462984
NM_001077365.2(POMT1):c.1683G>A (p.Leu561=)
NM_001077365.2(POMT1):c.168A>G (p.Lys56=)
NM_001077365.2(POMT1):c.1695C>A (p.Thr565=)
NM_001077365.2(POMT1):c.1698+10C>T
NM_001077365.2(POMT1):c.1698+11G>A
NM_001077365.2(POMT1):c.1698+11G>C rs115243626
NM_001077365.2(POMT1):c.1698+17G>A
NM_001077365.2(POMT1):c.1698+2dup
NM_001077365.2(POMT1):c.1698+7G>T
NM_001077365.2(POMT1):c.1699-10del
NM_001077365.2(POMT1):c.1699-11T>C
NM_001077365.2(POMT1):c.1699-11T>G
NM_001077365.2(POMT1):c.1699-12A>G
NM_001077365.2(POMT1):c.1699-1G>A rs1949874222
NM_001077365.2(POMT1):c.1699-20C>G
NM_001077365.2(POMT1):c.1699-20C>T
NM_001077365.2(POMT1):c.1699-7C>T rs764871902
NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter) rs1945766589
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) rs119462986
NM_001077365.2(POMT1):c.1705A>C (p.Ile569Leu) rs1588493803
NM_001077365.2(POMT1):c.1715T>G (p.Leu572Arg)
NM_001077365.2(POMT1):c.171A>G (p.Gln57=)
NM_001077365.2(POMT1):c.1724_1725del (p.Ile575fs)
NM_001077365.2(POMT1):c.1731C>A (p.Ile577=)
NM_001077365.2(POMT1):c.1735G>C (p.Val579Leu) rs1588494128
NM_001077365.2(POMT1):c.1740G>C (p.Ser580=)
NM_001077365.2(POMT1):c.1743C>A (p.Gly581=)
NM_001077365.2(POMT1):c.1745G>C (p.Ser582Thr)
NM_001077365.2(POMT1):c.1749C>G (p.Leu583=) rs755379319
NM_001077365.2(POMT1):c.1749C>T (p.Leu583=) rs755379319
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.1767C>G (p.Ala589=)
NM_001077365.2(POMT1):c.1768C>G (p.Leu590Val)
NM_001077365.2(POMT1):c.1770G>A (p.Leu590=)
NM_001077365.2(POMT1):c.1778T>C (p.Leu593Ser)
NM_001077365.2(POMT1):c.1786C>T (p.Leu596=)
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu) rs1564332130
NM_001077365.2(POMT1):c.1791C>G (p.Leu597=)
NM_001077365.2(POMT1):c.1797G>A (p.Arg599=) rs2131904951
NM_001077365.2(POMT1):c.1799G>A (p.Arg600Gln) rs753485021
NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu) rs753485021
NM_001077365.2(POMT1):c.1806T>C (p.Asn602=) rs2131905242
NM_001077365.2(POMT1):c.1825+11C>G
NM_001077365.2(POMT1):c.1825+12T>C
NM_001077365.2(POMT1):c.1825+18A>G
NM_001077365.2(POMT1):c.1825+22_1825+48del
NM_001077365.2(POMT1):c.1825+2T>C
NM_001077365.2(POMT1):c.1825+3_1825+16del
NM_001077365.2(POMT1):c.1825+4A>C
NM_001077365.2(POMT1):c.1825+8C>T
NM_001077365.2(POMT1):c.1825+9C>A
NM_001077365.2(POMT1):c.1826-10T>C
NM_001077365.2(POMT1):c.1826-13C>A
NM_001077365.2(POMT1):c.1826-4A>G
NM_001077365.2(POMT1):c.1826-7C>T
NM_001077365.2(POMT1):c.1826-7_1826-6delinsAA rs1064793740
NM_001077365.2(POMT1):c.1827T>C (p.Asp609=)
NM_001077365.2(POMT1):c.1830C>T (p.Ala610=)
NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs) rs1315540509
NM_001077365.2(POMT1):c.1838G>T (p.Arg613Leu)
NM_001077365.2(POMT1):c.183G>A (p.Leu61=) rs1945769344
NM_001077365.2(POMT1):c.1847_1865dup (p.Gly624fs)
NM_001077365.2(POMT1):c.1848G>C (p.Leu616=) rs370443246
NM_001077365.2(POMT1):c.1857G>A (p.Ala619=)
NM_001077365.2(POMT1):c.1858C>T (p.Leu620=)
NM_001077365.2(POMT1):c.1867G>C (p.Gly623Arg)
NM_001077365.2(POMT1):c.1869T>C (p.Gly623=)
NM_001077365.2(POMT1):c.1871_1872del (p.Gly624fs)
NM_001077365.2(POMT1):c.1890C>T (p.Leu630=) rs1007091999
NM_001077365.2(POMT1):c.1907A>G (p.Glu636Gly) rs1322926242
NM_001077365.2(POMT1):c.1917_1918del (p.Phe640fs)
NM_001077365.2(POMT1):c.1937C>T (p.Pro646Leu) rs2131922893
NM_001077365.2(POMT1):c.1941A>G (p.Ala647=)
NM_001077365.2(POMT1):c.1951C>T (p.Gln651Ter)
NM_001077365.2(POMT1):c.195G>A (p.Gly65=)
NM_001077365.2(POMT1):c.1974C>T (p.Val658=)
NM_001077365.2(POMT1):c.1975C>T (p.Leu659=)
NM_001077365.2(POMT1):c.1977del (p.Gln660fs)
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.2003+14G>A
NM_001077365.2(POMT1):c.2003+17G>A
NM_001077365.2(POMT1):c.2003+18A>C
NM_001077365.2(POMT1):c.2003+18A>G
NM_001077365.2(POMT1):c.2003+20A>G
NM_001077365.2(POMT1):c.2003+8G>A
NM_001077365.2(POMT1):c.2004-10A>G
NM_001077365.2(POMT1):c.2004-13C>T
NM_001077365.2(POMT1):c.2004-16G>A rs896269640
NM_001077365.2(POMT1):c.2004-18C>A
NM_001077365.2(POMT1):c.2004-18C>G
NM_001077365.2(POMT1):c.2004-20C>G rs372767898
NM_001077365.2(POMT1):c.2004-4G>A
NM_001077365.2(POMT1):c.2004-5T>G
NM_001077365.2(POMT1):c.2004-8C>T rs1950257826
NM_001077365.2(POMT1):c.2015A>G (p.Gln672Arg)
NM_001077365.2(POMT1):c.2016G>A (p.Gln672=) rs779577551
NM_001077365.2(POMT1):c.2019G>A (p.Arg673=)
NM_001077365.2(POMT1):c.2022C>G (p.Ser674Arg)
NM_001077365.2(POMT1):c.2022C>T (p.Ser674=)
NM_001077365.2(POMT1):c.2028C>T (p.Phe676=)
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs) rs1950265792
NM_001077365.2(POMT1):c.2046C>G (p.Ala682=)
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.2070G>A (p.Val690=) rs752855537
NM_001077365.2(POMT1):c.2082G>A (p.Leu694=)
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.2097C>A (p.Tyr699Ter) rs138902646
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.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2103C>T (p.Asp701=)
NM_001077365.2(POMT1):c.2110C>T (p.Leu704Phe) rs2131946967
NM_001077365.2(POMT1):c.2113_2119del (p.Ser705fs)
NM_001077365.2(POMT1):c.2115G>C (p.Ser705=)
NM_001077365.2(POMT1):c.2118A>T (p.Pro706=)
NM_001077365.2(POMT1):c.2127C>A (p.Leu709=) rs2131947484
NM_001077365.2(POMT1):c.2138G>A (p.Arg713His) rs938573554
NM_001077365.2(POMT1):c.2140T>C (p.Trp714Arg)
NM_001077365.2(POMT1):c.2141G>A (p.Trp714Ter)
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.225G>A (p.Leu75=)
NM_001077365.2(POMT1):c.229+12C>G
NM_001077365.2(POMT1):c.229+12C>T
NM_001077365.2(POMT1):c.229+14G>A rs1945785020
NM_001077365.2(POMT1):c.229+2T>C rs1945782278
NM_001077365.2(POMT1):c.229+7G>T
NM_001077365.2(POMT1):c.229+8T>G
NM_001077365.2(POMT1):c.230-16T>A
NM_001077365.2(POMT1):c.230-17T>C
NM_001077365.2(POMT1):c.230-9_230-8del rs2131591743
NM_001077365.2(POMT1):c.23C>T (p.Pro8Leu)
NM_001077365.2(POMT1):c.240A>G (p.Gly80=)
NM_001077365.2(POMT1):c.245del (p.Phe82fs)
NM_001077365.2(POMT1):c.249T>C (p.Asp83=)
NM_001077365.2(POMT1):c.252C>G (p.Gly84=)
NM_001077365.2(POMT1):c.260dup (p.Leu87fs)
NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter) rs1945827957
NM_001077365.2(POMT1):c.270_280delAATTGGAGCAG (p.Gly92fs) rs1222795311
NM_001077365.2(POMT1):c.273T>C (p.Ile91=)
NM_001077365.2(POMT1):c.280+12T>C
NM_001077365.2(POMT1):c.280+16C>A
NM_001077365.2(POMT1):c.280+16C>T
NM_001077365.2(POMT1):c.280+20T>C
NM_001077365.2(POMT1):c.280+7G>A
NM_001077365.2(POMT1):c.280+7_280+8del rs561658895
NM_001077365.2(POMT1):c.281-16G>A
NM_001077365.2(POMT1):c.281-8T>C
NM_001077365.2(POMT1):c.283T>C (p.Tyr95His)
NM_001077365.2(POMT1):c.285C>T (p.Tyr95=) rs1554772428
NM_001077365.2(POMT1):c.291del (p.Ser97fs)
NM_001077365.2(POMT1):c.295G>A (p.Val99Met) rs1449103987
NM_001077365.2(POMT1):c.314G>A (p.Arg105His) rs1554772469
NM_001077365.2(POMT1):c.330C>T (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.333G>A (p.Ala111=)
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.357C>T (p.Ala119=)
NM_001077365.2(POMT1):c.360C>T (p.Tyr120=) rs2131606375
NM_001077365.2(POMT1):c.36G>T (p.Thr12=)
NM_001077365.2(POMT1):c.385del (p.Ser129fs)
NM_001077365.2(POMT1):c.412C>T (p.Leu138=)
NM_001077365.2(POMT1):c.418A>G (p.Met140Val) rs2131607251
NM_001077365.2(POMT1):c.423T>C (p.Leu141=)
NM_001077365.2(POMT1):c.427+12G>T
NM_001077365.2(POMT1):c.427+17T>G
NM_001077365.2(POMT1):c.427+1G>A rs760071332
NM_001077365.2(POMT1):c.427+1_427+2insA rs900762841
NM_001077365.2(POMT1):c.427+20C>G
NM_001077365.2(POMT1):c.427G>A (p.Glu143Lys)
NM_001077365.2(POMT1):c.428-11C>T
NM_001077365.2(POMT1):c.428-2A>G rs1554773448
NM_001077365.2(POMT1):c.428-7G>A
NM_001077365.2(POMT1):c.428-7G>T
NM_001077365.2(POMT1):c.428-8T>C
NM_001077365.2(POMT1):c.432del (p.Asn144fs)
NM_001077365.2(POMT1):c.434C>T (p.Ala145Val)
NM_001077365.2(POMT1):c.435T>A (p.Ala145=)
NM_001077365.2(POMT1):c.439A>G (p.Ile147Val)
NM_001077365.2(POMT1):c.459G>A (p.Met153Ile) rs1184495903
NM_001077365.2(POMT1):c.463T>C (p.Leu155=)
NM_001077365.2(POMT1):c.466G>C (p.Glu156Gln)
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001077365.2(POMT1):c.498C>T (p.Ala166=)
NM_001077365.2(POMT1):c.499G>C (p.Val167Leu)
NM_001077365.2(POMT1):c.504G>A (p.Leu168=)
NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
NM_001077365.2(POMT1):c.520T>A (p.Phe174Ile)
NM_001077365.2(POMT1):c.529C>T (p.Gln177Ter)
NM_001077365.2(POMT1):c.533A>G (p.Lys178Arg)
NM_001077365.2(POMT1):c.538A>C (p.Ser180Arg) rs770239141
NM_001077365.2(POMT1):c.539+15G>A
NM_001077365.2(POMT1):c.539+20T>G
NM_001077365.2(POMT1):c.539+2T>C
NM_001077365.2(POMT1):c.539+9A>G rs964407139
NM_001077365.2(POMT1):c.540-3C>T
NM_001077365.2(POMT1):c.540-4C>G
NM_001077365.2(POMT1):c.540-8T>C
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_001077365.2(POMT1):c.558G>T (p.Trp186Cys)
NM_001077365.2(POMT1):c.559del (p.Trp187fs)
NM_001077365.2(POMT1):c.570A>T (p.Leu190=)
NM_001077365.2(POMT1):c.587C>T (p.Ala196Val)
NM_001077365.2(POMT1):c.58dup (p.Val20fs) rs2131554631
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+13dup
NM_001077365.2(POMT1):c.605+1G>C rs766648827
NM_001077365.2(POMT1):c.605+4A>G
NM_001077365.2(POMT1):c.606-12A>G rs1057523851
NM_001077365.2(POMT1):c.606-13C>T
NM_001077365.2(POMT1):c.606-14T>C
NM_001077365.2(POMT1):c.606del (p.Ile203fs) rs1588375386
NM_001077365.2(POMT1):c.621T>C (p.Gly207=)
NM_001077365.2(POMT1):c.622G>T (p.Val208Leu)
NM_001077365.2(POMT1):c.62C>T (p.Ala21Val)
NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter) rs747129906
NM_001077365.2(POMT1):c.633C>T (p.Tyr211=) rs747129906
NM_001077365.2(POMT1):c.636G>T (p.Val212=)
NM_001077365.2(POMT1):c.63C>T (p.Ala21=)
NM_001077365.2(POMT1):c.640G>T (p.Val214Leu)
NM_001077365.2(POMT1):c.641T>C (p.Val214Ala) rs919829316
NM_001077365.2(POMT1):c.673C>T (p.Leu225=)
NM_001077365.2(POMT1):c.675G>A (p.Leu225=)
NM_001077365.2(POMT1):c.687G>C (p.Gln229His) rs1946741782
NM_001077365.2(POMT1):c.688A>T (p.Thr230Ser)
NM_001077365.2(POMT1):c.689C>G (p.Thr230Ser)
NM_001077365.2(POMT1):c.699+14T>G rs370038491
NM_001077365.2(POMT1):c.699+24C>A
NM_001077365.2(POMT1):c.699+26T>G rs2131645042
NM_001077365.2(POMT1):c.699+39T>C
NM_001077365.2(POMT1):c.699+40A>G
NM_001077365.2(POMT1):c.699+45G>T
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+67G>T rs776061161
NM_001077365.2(POMT1):c.699+6T>G
NM_001077365.2(POMT1):c.699+73G>C
NM_001077365.2(POMT1):c.699+74G>T
NM_001077365.2(POMT1):c.699+75T>C
NM_001077365.2(POMT1):c.699+76G>T
NM_001077365.2(POMT1):c.699+80del
NM_001077365.2(POMT1):c.699+81G>A
NM_001077365.2(POMT1):c.699+83_699+84insAT
NM_001077365.2(POMT1):c.699+85C>T rs369000699
NM_001077365.2(POMT1):c.699T>C (p.Asn233=)
NM_001077365.2(POMT1):c.700-6T>C
NM_001077365.2(POMT1):c.700-7C>T rs1588380391
NM_001077365.2(POMT1):c.708G>A (p.Val236=)
NM_001077365.2(POMT1):c.720del (p.Leu240fs)
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.727C>T (p.Arg243Ter) rs398124247
NM_001077365.2(POMT1):c.729A>G (p.Arg243=) rs2131652629
NM_001077365.2(POMT1):c.72del (p.Met25fs) rs2131554917
NM_001077365.2(POMT1):c.732A>C (p.Ala244=)
NM_001077365.2(POMT1):c.743T>G (p.Leu248Arg) rs1946833127
NM_001077365.2(POMT1):c.744G>A (p.Leu248=)
NM_001077365.2(POMT1):c.748A>G (p.Ile250Val)
NM_001077365.2(POMT1):c.759C>G (p.Val253=)
NM_001077365.2(POMT1):c.75G>T (p.Met25Ile)
NM_001077365.2(POMT1):c.761T>G (p.Leu254Arg)
NM_001077365.2(POMT1):c.762G>A (p.Leu254=)
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile) rs759734493
NM_001077365.2(POMT1):c.789_790del (p.Leu263fs)
NM_001077365.2(POMT1):c.797_808del (p.Val266_Ser269del)
NM_001077365.2(POMT1):c.7G>T (p.Gly3Ter)
NM_001077365.2(POMT1):c.804C>T (p.Arg268=)
NM_001077365.2(POMT1):c.813C>T (p.Pro271=)
NM_001077365.2(POMT1):c.846C>T (p.Ala282=) rs886043307
NM_001077365.2(POMT1):c.84G>C (p.Leu28=)
NM_001077365.2(POMT1):c.852A>T (p.Leu284Phe)
NM_001077365.2(POMT1):c.855+12G>A
NM_001077365.2(POMT1):c.855+17C>T
NM_001077365.2(POMT1):c.855+19del
NM_001077365.2(POMT1):c.855+20C>T
NM_001077365.2(POMT1):c.855+7A>G
NM_001077365.2(POMT1):c.856-15C>G rs1947072981
NM_001077365.2(POMT1):c.856-16_856-14del
NM_001077365.2(POMT1):c.856-17T>G
NM_001077365.2(POMT1):c.856-18C>T
NM_001077365.2(POMT1):c.856-2A>G
NM_001077365.2(POMT1):c.856-5C>T rs970574744
NM_001077365.2(POMT1):c.856-6T>C
NM_001077365.2(POMT1):c.859G>A (p.Gly287Arg)
NM_001077365.2(POMT1):c.859_871del (p.Gly287fs) rs2131672013
NM_001077365.2(POMT1):c.860G>A (p.Gly287Glu) rs1947076473
NM_001077365.2(POMT1):c.870G>A (p.Arg290=)
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.885G>A (p.Gln295=)
NM_001077365.2(POMT1):c.888A>G (p.Pro296=)
NM_001077365.2(POMT1):c.889C>T (p.Leu297=)
NM_001077365.2(POMT1):c.897G>A (p.Val299=)
NM_001077365.2(POMT1):c.8G>A (p.Gly3Glu)
NM_001077365.2(POMT1):c.900C>G (p.Ala300=)
NM_001077365.2(POMT1):c.91del (p.Leu31fs)
NM_001077365.2(POMT1):c.927C>T (p.Asn309=) rs753694905
NM_001077365.2(POMT1):c.92T>A (p.Leu31Gln) rs2131555430
NM_001077365.2(POMT1):c.936G>A (p.Gly312=)
NM_001077365.2(POMT1):c.93del (p.Trp32fs)
NM_001077365.2(POMT1):c.948C>T (p.Pro316=)
NM_001077365.2(POMT1):c.962_982del (p.Ser321_Met328delinsLeu) rs2131673494
NM_001077365.2(POMT1):c.972_973insCT (p.Thr325fs)
NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter) rs1588391612
NM_001077365.2(POMT1):c.982A>C (p.Met328Leu)
NM_001077365.2(POMT1):c.986+10T>C
NM_001077365.2(POMT1):c.986+11G>A
NM_001077365.2(POMT1):c.986+12dup
NM_001077365.2(POMT1):c.987-2A>C rs1453773610
NM_001077365.2(POMT1):c.987-2A>G
NM_001077365.2(POMT1):c.987-4A>G
NM_001077365.2(POMT1):c.987-5C>T
NM_001077365.2(POMT1):c.988T>C (p.Tyr330His)
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689
NM_001077365.2(POMT1):c.990T>C (p.Tyr330=)
NM_001077365.2(POMT1):c.993G>A (p.Glu331=)
NM_001077365.2(POMT1):c.996C>T (p.Asn332=)

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