NM_001077365.2(POMT1):c.*338T>G
|
rs193003183
|
0.00971
|
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg)
|
rs146869947
|
0.00264
|
NM_001077365.2(POMT1):c.*635T>G
|
rs112845474
|
0.00260
|
NM_001077365.2(POMT1):c.*25C>T
|
rs115818625
|
0.00230
|
NM_001077365.2(POMT1):c.1416C>T (p.Val472=)
|
rs139687326
|
0.00222
|
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_007171.3(POMT1):c.*694G>A
|
rs550900373
|
0.00133
|
NM_001077365.2(POMT1):c.-168G>C
|
rs556267289
|
0.00127
|
NM_001077365.2(POMT1):c.1486+14G>A
|
rs142995404
|
0.00118
|
NM_001077365.2(POMT1):c.*182T>C
|
rs535816758
|
0.00091
|
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.42C>T (p.Asp14=)
|
rs150937126
|
0.00050
|
NM_001077365.2(POMT1):c.1365+15C>T
|
rs58896330
|
0.00045
|
NM_001077365.2(POMT1):c.*613C>T
|
rs551579745
|
0.00037
|
NM_001077365.2(POMT1):c.855+6T>C
|
rs200692465
|
0.00031
|
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.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.789G>C (p.Leu263Phe)
|
rs201073763
|
0.00021
|
NM_001077365.2(POMT1):c.*614G>A
|
rs373680261
|
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.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.*105G>A
|
rs886063539
|
0.00010
|
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.*448C>T
|
rs373799176
|
0.00009
|
NM_001077365.2(POMT1):c.*591C>T
|
rs1012682271
|
0.00009
|
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.488A>G (p.Asn163Ser)
|
rs182295674
|
0.00009
|
NM_001077365.2(POMT1):c.803G>A (p.Arg268His)
|
rs369644530
|
0.00009
|
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.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.*37G>A
|
rs201474628
|
0.00006
|
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.1486+9G>A
|
rs547775333
|
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.847A>C (p.Ser283Arg)
|
rs747506380
|
0.00006
|
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.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.*68C>T
|
rs773474667
|
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.1483G>A (p.Ala495Thr)
|
rs774039973
|
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.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.620G>A (p.Gly207Asp)
|
rs765733801
|
0.00004
|
NM_001077365.2(POMT1):c.699+85C>G
|
rs369000699
|
0.00004
|
NM_001077365.2(POMT1):c.-30G>A
|
rs780382988
|
0.00003
|
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.1488C>T (p.Ser496=)
|
rs727503872
|
0.00003
|
NM_001077365.2(POMT1):c.1963C>T (p.Leu655Phe)
|
rs547373832
|
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_007171.3(POMT1):c.-195C>T
|
rs886063536
|
0.00003
|
NM_007171.3(POMT1):c.-196G>T
|
rs886063535
|
0.00003
|
NM_001077365.2(POMT1):c.*64T>A
|
rs892418533
|
0.00002
|
NM_001077365.2(POMT1):c.*693C>T
|
rs886063541
|
0.00002
|
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.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys)
|
rs752384050
|
0.00002
|
NM_001077365.2(POMT1):c.1381C>T (p.Leu461Phe)
|
rs749458250
|
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.1571T>G (p.Phe524Cys)
|
rs138825095
|
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.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.2098G>A (p.Gly700Arg)
|
rs912556508
|
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.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.880G>T (p.Gly294Cys)
|
rs145395372
|
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.1064T>C (p.Ile355Thr)
|
rs1334264954
|
0.00001
|
NM_001077365.2(POMT1):c.1074T>A (p.Asp358Glu)
|
rs765263668
|
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.1193C>T (p.Pro398Leu)
|
rs776388419
|
0.00001
|
NM_001077365.2(POMT1):c.1199G>C (p.Ser400Thr)
|
rs149575164
|
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.1443C>T (p.His481=)
|
rs139415150
|
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.1528G>A (p.Ala510Thr)
|
rs1276417965
|
0.00001
|
NM_001077365.2(POMT1):c.1529C>T (p.Ala510Val)
|
rs752732512
|
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.1601T>C (p.Leu534Pro)
|
rs1489617043
|
0.00001
|
NM_001077365.2(POMT1):c.1616C>T (p.Ser539Leu)
|
rs754907726
|
0.00001
|
NM_001077365.2(POMT1):c.1698+3A>G
|
rs794727191
|
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.184G>A (p.Asp62Asn)
|
rs1945770663
|
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.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.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.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+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+3A>G
|
rs780457748
|
0.00001
|
NM_001077365.2(POMT1):c.572C>T (p.Thr191Ile)
|
rs1344992449
|
0.00001
|
NM_001077365.2(POMT1):c.599C>G (p.Ala200Gly)
|
rs886043111
|
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.672C>A (p.His224Gln)
|
rs1315200279
|
0.00001
|
NM_001077365.2(POMT1):c.697_699del (p.Asn233del)
|
rs761863400
|
0.00001
|
NM_001077365.2(POMT1):c.699+1G>A
|
rs1275810616
|
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
|
NC_000009.11:g.(?_134395447)_(134395600_?)dup
|
|
|
NM_001077365.2(POMT1):c.*274T>A
|
rs886063540
|
|
NM_001077365.2(POMT1):c.*330G>A
|
rs556148765
|
|
NM_001077365.2(POMT1):c.*370C>G
|
rs1950358020
|
|
NM_001077365.2(POMT1):c.*381G>A
|
rs57955153
|
|
NM_001077365.2(POMT1):c.-22C>T
|
rs748211086
|
|
NM_001077365.2(POMT1):c.-83C>T
|
rs550740786
|
|
NM_001077365.2(POMT1):c.1001G>A (p.Arg334Gln)
|
|
|
NM_001077365.2(POMT1):c.1031G>A (p.Cys344Tyr)
|
|
|
NM_001077365.2(POMT1):c.1062G>T (p.Trp354Cys)
|
rs1564354702
|
|
NM_001077365.2(POMT1):c.1076C>T (p.Pro359Leu)
|
rs1292313849
|
|
NM_001077365.2(POMT1):c.1083-7C>G
|
rs1428085460
|
|
NM_001077365.2(POMT1):c.1083-9_1083-8del
|
rs781619064
|
|
NM_001077365.2(POMT1):c.1093G>C (p.Val365Leu)
|
|
|
NM_001077365.2(POMT1):c.1094T>C (p.Val365Ala)
|
rs1251343700
|
|
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>T (p.Pro370=)
|
rs766759606
|
|
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.1168C>A (p.Leu390Met)
|
|
|
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.1194C>A (p.Pro398=)
|
rs371653610
|
|
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=)
|
rs371653610
|
|
NM_001077365.2(POMT1):c.1200C>T (p.Ser400=)
|
rs886043851
|
|
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.1249C>T (p.Pro417Ser)
|
rs1948110753
|
|
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.1306T>A (p.Trp436Arg)
|
|
|
NM_001077365.2(POMT1):c.1311G>A (p.Lys437=)
|
rs1949210371
|
|
NM_001077365.2(POMT1):c.1315A>T (p.Ile439Phe)
|
|
|
NM_001077365.2(POMT1):c.1318C>T (p.Leu440Phe)
|
|
|
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=)
|
rs753403833
|
|
NM_001077365.2(POMT1):c.1335T>G (p.Phe445Leu)
|
rs2131848570
|
|
NM_001077365.2(POMT1):c.1343T>G (p.Val448Gly)
|
|
|
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.1372G>A (p.Gly458Arg)
|
|
|
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.1441C>T (p.His481Tyr)
|
|
|
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.1491G>C (p.Gln497His)
|
rs2131866160
|
|
NM_001077365.2(POMT1):c.1496A>G (p.Gln499Arg)
|
|
|
NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4])
|
rs727502853
|
|
NM_001077365.2(POMT1):c.1504C>T (p.Arg502Trp)
|
|
|
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.1535T>C (p.Val512Ala)
|
|
|
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.1581G>A (p.Leu527=)
|
rs1378023866
|
|
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.1639C>T (p.Pro547Ser)
|
rs1588482418
|
|
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=)
|
rs757830349
|
|
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.1669A>G (p.Ile557Val)
|
|
|
NM_001077365.2(POMT1):c.1672G>T (p.Ala558Ser)
|
|
|
NM_001077365.2(POMT1):c.1678T>C (p.Trp560Arg)
|
|
|
NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys)
|
rs119462984
|
|
NM_001077365.2(POMT1):c.1687C>T (p.Pro563Ser)
|
|
|
NM_001077365.2(POMT1):c.1698+2dup
|
|
|
NM_001077365.2(POMT1):c.1699-11T>G
|
|
|
NM_001077365.2(POMT1):c.1699-7C>G
|
rs764871902
|
|
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.1735G>C (p.Val579Leu)
|
rs1588494128
|
|
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.1760T>C (p.Ile587Thr)
|
|
|
NM_001077365.2(POMT1):c.1768C>G (p.Leu590Val)
|
|
|
NM_001077365.2(POMT1):c.1778T>C (p.Leu593Ser)
|
|
|
NM_001077365.2(POMT1):c.1779G>C (p.Leu593Phe)
|
|
|
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu)
|
rs1564332130
|
|
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.181T>A (p.Leu61Met)
|
rs886042868
|
|
NM_001077365.2(POMT1):c.1825+3_1825+16del
|
|
|
NM_001077365.2(POMT1):c.1825+4A>C
|
|
|
NM_001077365.2(POMT1):c.1835T>A (p.Leu612Gln)
|
|
|
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.1933C>T (p.Leu645=)
|
rs750972624
|
|
NM_001077365.2(POMT1):c.1937C>T (p.Pro646Leu)
|
rs2131922893
|
|
NM_001077365.2(POMT1):c.195GCC[1] (p.Pro67del)
|
|
|
NM_001077365.2(POMT1):c.1979A>G (p.Gln660Arg)
|
rs775109154
|
|
NM_001077365.2(POMT1):c.197C>G (p.Pro66Arg)
|
rs757903559
|
|
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.2004-5T>C
|
rs886044271
|
|
NM_001077365.2(POMT1):c.2004-9C>T
|
rs886063538
|
|
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.2080C>G (p.Leu694Val)
|
|
|
NM_001077365.2(POMT1):c.2087C>G (p.Pro696Arg)
|
rs886044354
|
|
NM_001077365.2(POMT1):c.2089C>T (p.Leu697Phe)
|
|
|
NM_001077365.2(POMT1):c.208C>A (p.His70Asn)
|
rs886043485
|
|
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.2110C>T (p.Leu704Phe)
|
rs2131946967
|
|
NM_001077365.2(POMT1):c.2138G>A (p.Arg713His)
|
rs938573554
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NM_001077365.2(POMT1):c.2140T>C (p.Trp714Arg)
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NM_001077365.2(POMT1):c.2143A>C (p.Lys715Gln)
|
rs886044082
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NM_001077365.2(POMT1):c.214G>T (p.Val72Leu)
|
rs780353966
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NM_001077365.2(POMT1):c.2162T>G (p.Leu721Trp)
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NM_001077365.2(POMT1):c.2164A>G (p.Ile722Val)
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NM_001077365.2(POMT1):c.2178G>C (p.Ter726Tyr)
|
rs147143094
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NM_001077365.2(POMT1):c.221C>A (p.Ala74Asp)
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NM_001077365.2(POMT1):c.23C>T (p.Pro8Leu)
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NM_001077365.2(POMT1):c.26T>C (p.Val9Ala)
|
rs1945225387
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NM_001077365.2(POMT1):c.274G>A (p.Gly92Arg)
|
rs2131592403
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NM_001077365.2(POMT1):c.280+7_280+8del
|
rs561658895
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NM_001077365.2(POMT1):c.283T>C (p.Tyr95His)
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NM_001077365.2(POMT1):c.295G>A (p.Val99Met)
|
rs1449103987
|
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NM_001077365.2(POMT1):c.305G>C (p.Trp102Ser)
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NM_001077365.2(POMT1):c.342G>T (p.Leu114Phe)
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NM_001077365.2(POMT1):c.344C>T (p.Ser115Leu)
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NM_001077365.2(POMT1):c.352A>G (p.Met118Val)
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NM_001077365.2(POMT1):c.397G>T (p.Ala133Ser)
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NM_001077365.2(POMT1):c.418A>G (p.Met140Val)
|
rs2131607251
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NM_001077365.2(POMT1):c.427+2_427+3insTT
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NM_001077365.2(POMT1):c.434C>T (p.Ala145Val)
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NM_001077365.2(POMT1):c.439A>G (p.Ile147Val)
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NM_001077365.2(POMT1):c.449C>T (p.Ser150Leu)
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NM_001077365.2(POMT1):c.452G>C (p.Arg151Thr)
|
rs398124246
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NM_001077365.2(POMT1):c.459G>A (p.Met153Ile)
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rs1184495903
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NM_001077365.2(POMT1):c.466G>C (p.Glu156Gln)
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NM_001077365.2(POMT1):c.47A>G (p.Asn16Ser)
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NM_001077365.2(POMT1):c.499G>C (p.Val167Leu)
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NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
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NM_001077365.2(POMT1):c.520T>A (p.Phe174Ile)
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NM_001077365.2(POMT1):c.533A>G (p.Lys178Arg)
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NM_001077365.2(POMT1):c.538A>C (p.Ser180Arg)
|
rs770239141
|
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NM_001077365.2(POMT1):c.539+3A>C
|
rs780457748
|
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NM_001077365.2(POMT1):c.540-3C>T
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NM_001077365.2(POMT1):c.545T>G (p.Phe182Cys)
|
rs1946684104
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NM_001077365.2(POMT1):c.558G>T (p.Trp186Cys)
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NM_001077365.2(POMT1):c.57T>C (p.Leu19=)
|
rs886043325
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NM_001077365.2(POMT1):c.587C>T (p.Ala196Val)
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NM_001077365.2(POMT1):c.592T>A (p.Ser198Thr)
|
rs767056835
|
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NM_001077365.2(POMT1):c.59T>C (p.Val20Ala)
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NM_001077365.2(POMT1):c.600_601delinsGA (p.Val201Met)
|
rs2131641762
|
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NM_001077365.2(POMT1):c.605+4A>G
|
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NM_001077365.2(POMT1):c.619G>T (p.Gly207Cys)
|
rs1554774121
|
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NM_001077365.2(POMT1):c.622G>T (p.Val208Leu)
|
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NM_001077365.2(POMT1):c.62C>T (p.Ala21Val)
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NM_001077365.2(POMT1):c.640G>T (p.Val214Leu)
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NM_001077365.2(POMT1):c.641T>C (p.Val214Ala)
|
rs919829316
|
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NM_001077365.2(POMT1):c.653C>G (p.Ala218Gly)
|
|
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NM_001077365.2(POMT1):c.662A>C (p.His221Pro)
|
rs150652167
|
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NM_001077365.2(POMT1):c.663T>C (p.His221=)
|
rs886043159
|
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NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro)
|
rs1554774207
|
|
NM_001077365.2(POMT1):c.687G>C (p.Gln229His)
|
rs1946741782
|
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NM_001077365.2(POMT1):c.688A>T (p.Thr230Ser)
|
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NM_001077365.2(POMT1):c.689C>G (p.Thr230Ser)
|
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NM_001077365.2(POMT1):c.699+14T>G
|
rs370038491
|
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NM_001077365.2(POMT1):c.699+18G>C
|
rs886063537
|
|
NM_001077365.2(POMT1):c.699+19T>C
|
rs763483567
|
|
NM_001077365.2(POMT1):c.699+26T>G
|
rs2131645042
|
|
NM_001077365.2(POMT1):c.699+40A>G
|
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NM_001077365.2(POMT1):c.699+49A>T
|
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NM_001077365.2(POMT1):c.699+5G>T
|
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|
NM_001077365.2(POMT1):c.699+64G>C
|
rs746958804
|
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NM_001077365.2(POMT1):c.699+66G>T
|
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NM_001077365.2(POMT1):c.699+6T>G
|
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|
NM_001077365.2(POMT1):c.700-17C>T
|
rs1946817783
|
|
NM_001077365.2(POMT1):c.70G>T (p.Gly24Trp)
|
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|
NM_001077365.2(POMT1):c.711C>G (p.Phe237Leu)
|
rs2131651682
|
|
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>A (p.Arg243Gln)
|
|
|
NM_001077365.2(POMT1):c.728G>C (p.Arg243Pro)
|
rs772980661
|
|
NM_001077365.2(POMT1):c.733G>A (p.Val245Met)
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|
NM_001077365.2(POMT1):c.73A>T (p.Met25Leu)
|
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|
NM_001077365.2(POMT1):c.743T>G (p.Leu248Arg)
|
rs1946833127
|
|
NM_001077365.2(POMT1):c.748A>G (p.Ile250Val)
|
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|
NM_001077365.2(POMT1):c.75G>T (p.Met25Ile)
|
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|
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.814C>T (p.His272Tyr)
|
|
|
NM_001077365.2(POMT1):c.827T>C (p.Met276Thr)
|
|
|
NM_001077365.2(POMT1):c.833G>C (p.Ser278Thr)
|
rs747874952
|
|
NM_001077365.2(POMT1):c.846C>T (p.Ala282=)
|
rs886043307
|
|
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.889C>G (p.Leu297Val)
|
|
|
NM_001077365.2(POMT1):c.8G>A (p.Gly3Glu)
|
|
|
NM_001077365.2(POMT1):c.901_909del (p.Phe301_Ser303del)
|
|
|
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>T (p.Gly312=)
|
rs797045897
|
|
NM_001077365.2(POMT1):c.937A>G (p.Lys313Glu)
|
rs886042835
|
|
NM_001077365.2(POMT1):c.962_982del (p.Ser321_Met328delinsLeu)
|
rs2131673494
|
|
NM_001077365.2(POMT1):c.970G>A (p.Asp324Asn)
|
rs886042459
|
|
NM_001077365.2(POMT1):c.977A>G (p.Tyr326Cys)
|
rs377372480
|
|
NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr)
|
rs757984572
|
|
NM_001077365.2(POMT1):c.982A>C (p.Met328Leu)
|
|
|
NM_001077365.2(POMT1):c.988T>C (p.Tyr330His)
|
|
|