NM_001077365.2(POMT1):c.856-49T>G
|
rs4740163
|
0.97653
|
NM_001077365.2(POMT1):c.1487-130A>G
|
rs2010635
|
0.90020
|
NM_001077365.2(POMT1):c.281-82C>T
|
rs6597501
|
0.89469
|
NM_001077365.2(POMT1):c.986+246G>A
|
rs3739492
|
0.88280
|
NM_001077365.2(POMT1):c.986+184G>A
|
rs10793881
|
0.88278
|
NM_001077365.2(POMT1):c.986+49G>A
|
rs10901066
|
0.88278
|
NM_001077365.2(POMT1):c.1083-180G>A
|
rs7865761
|
0.88274
|
NM_001077365.2(POMT1):c.986+279T>C
|
rs3739493
|
0.88269
|
NM_001077365.2(POMT1):c.987-173C>T
|
rs10901067
|
0.88268
|
NM_001077365.2(POMT1):c.428-21T>C
|
rs11243404
|
0.88267
|
NM_001077365.2(POMT1):c.700-48A>G
|
rs2018621
|
0.88264
|
NM_001077365.2(POMT1):c.*226T>C
|
rs3824395
|
0.88255
|
NM_001077365.2(POMT1):c.428-232A>G
|
rs10793880
|
0.88251
|
NM_001077365.2(POMT1):c.1825+198C>G
|
rs7849433
|
0.88242
|
NM_001077365.2(POMT1):c.1366-61A>G
|
rs1547768
|
0.88236
|
NM_001077365.2(POMT1):c.539+104A>G
|
rs28447664
|
0.88233
|
NM_001077365.2(POMT1):c.539+91C>T
|
rs11999204
|
0.88220
|
NM_001077365.2(POMT1):c.*41T>C
|
rs3739495
|
0.88174
|
NM_001077365.2(POMT1):c.1826-248T>C
|
rs7870715
|
0.88128
|
NM_001077365.2(POMT1):c.*278T>C
|
rs10793885
|
0.88104
|
NM_001077365.2(POMT1):c.855+175G>A
|
rs3780259
|
0.87860
|
NM_001077365.2(POMT1):c.281-199G>A
|
rs6597500
|
0.87773
|
NM_001077365.2(POMT1):c.1698+107C>A
|
rs2277153
|
0.87061
|
NM_001077365.2(POMT1):c.280+271G>A
|
rs10448341
|
0.86460
|
NM_001077365.2(POMT1):c.1699-339A>G
|
rs4740258
|
0.84060
|
NM_001077365.2(POMT1):c.1698+48C>G
|
rs2277152
|
0.84050
|
NM_001077365.2(POMT1):c.2003+13C>T
|
rs4740165
|
0.84044
|
NM_001077365.2(POMT1):c.856-299T>A
|
rs10901064
|
0.73785
|
NM_001077365.2(POMT1):c.428-340C>T
|
rs10901063
|
0.71615
|
NM_001077365.2(POMT1):c.2004-70C>T
|
rs10122068
|
0.70537
|
NM_001077365.2(POMT1):c.987-102G>A
|
rs116150532
|
0.13429
|
NM_001077365.2(POMT1):c.699+52C>T
|
rs3887873
|
0.12205
|
NM_001077365.2(POMT1):c.1083-64C>T
|
rs77176471
|
0.12197
|
NM_001077365.2(POMT1):c.1698+233C>T
|
rs62580581
|
0.11588
|
NM_001077365.2(POMT1):c.855+225A>G
|
rs117287406
|
0.10393
|
NM_001077365.2(POMT1):c.427+258C>T
|
rs74435115
|
0.10344
|
NM_001077365.2(POMT1):c.428-138T>C
|
rs72770165
|
0.08610
|
NM_001077365.2(POMT1):c.856-65G>A
|
rs34159422
|
0.08167
|
NM_001077365.2(POMT1):c.1826-268G>A
|
rs61584357
|
0.05897
|
NM_001077365.2(POMT1):c.1487-164G>A
|
rs749591
|
0.05511
|
NM_001077365.2(POMT1):c.1487-166G>A
|
rs749590
|
0.05511
|
NM_001077365.2(POMT1):c.1272+84C>T
|
rs77373739
|
0.05369
|
NM_001077365.2(POMT1):c.1083-224G>A
|
rs77125240
|
0.04245
|
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)
|
rs4740164
|
0.04243
|
NM_001077365.2(POMT1):c.1272+183A>G
|
rs112433379
|
0.04222
|
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)
|
rs11243406
|
0.04069
|
NM_001077365.2(POMT1):c.1083-253T>C
|
rs73656664
|
0.03234
|
NM_001077365.2(POMT1):c.1272+262G>C
|
rs113878457
|
0.02853
|
NM_001077365.2(POMT1):c.1083-262T>C
|
rs73555576
|
0.02833
|
NM_001077365.2(POMT1):c.1175+98_1175+99del
|
rs139273349
|
0.02629
|
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=)
|
rs34954751
|
0.02208
|
NM_001077365.2(POMT1):c.1273-70C>T
|
rs113628769
|
0.02200
|
NM_001077365.2(POMT1):c.123-348G>C
|
rs149965169
|
0.01873
|
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val)
|
rs12115566
|
0.01621
|
NM_001077365.2(POMT1):c.1175+174C>T
|
rs144547065
|
0.01127
|
NM_001077365.2(POMT1):c.280+136dup
|
rs149177205
|
0.01069
|
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.1272+254C>A
|
rs536897848
|
0.01019
|
NM_001077365.2(POMT1):c.1825+237T>C
|
rs113453750
|
0.01014
|
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.*338T>G
|
rs193003183
|
0.00971
|
NM_001077365.2(POMT1):c.-6T>G
|
rs62620173
|
0.00840
|
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.987-274C>T
|
rs116547001
|
0.00612
|
NM_001077365.2(POMT1):c.122+248T>C
|
rs76554548
|
0.00611
|
NM_001077365.2(POMT1):c.1082+45C>G
|
rs181862470
|
0.00598
|
NM_001077365.2(POMT1):c.1826-40G>A
|
rs187443595
|
0.00596
|
NM_001077365.2(POMT1):c.1365+77C>T
|
rs115274090
|
0.00488
|
NM_001077365.2(POMT1):c.280+31G>A
|
rs79446775
|
0.00484
|
NM_001077365.2(POMT1):c.281-160C>T
|
rs74723827
|
0.00481
|
NM_001077365.2(POMT1):c.281-85C>T
|
rs145670145
|
0.00479
|
NM_001077365.2(POMT1):c.700-30G>T
|
rs111429426
|
0.00473
|
NM_001077365.2(POMT1):c.2004-64G>T
|
rs139862946
|
0.00464
|
NM_001077365.2(POMT1):c.1272+193A>C
|
rs571695392
|
0.00442
|
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val)
|
rs138171526
|
0.00378
|
NM_001077365.2(POMT1):c.1825+25T>G
|
rs75539982
|
0.00347
|
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=)
|
rs150814269
|
0.00324
|
NM_001077365.2(POMT1):c.1273-201C>T
|
rs116630918
|
0.00322
|
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.427+72A>T
|
rs138335760
|
0.00203
|
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.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.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.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.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.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.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.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.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.1451C>T (p.Thr484Met)
|
rs201220016
|
0.00007
|
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=)
|
rs376373313
|
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.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.579_580del (p.Val195fs)
|
rs1032439203
|
0.00006
|
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)
|
rs747506380
|
0.00006
|
NM_001077365.2(POMT1):c.1565C>T (p.Ala522Val)
|
rs374402055
|
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.123-6T>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.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.2003+9G>A
|
rs368975092
|
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.1052A>G (p.Asn351Ser)
|
rs756531223
|
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.1892C>T (p.Pro631Leu)
|
rs149682171
|
0.00003
|
NM_001077365.2(POMT1):c.2004-1G>C
|
rs745738628
|
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.634G>A (p.Val212Met)
|
rs746119386
|
0.00003
|
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile)
|
rs772590277
|
0.00003
|
NM_001077365.2(POMT1):c.987-39C>T
|
rs530208525
|
0.00003
|
NM_001077365.2(POMT1):c.1109C>T (p.Pro370Leu)
|
rs376258733
|
0.00002
|
NM_001077365.2(POMT1):c.1196del (p.Leu399fs)
|
rs768144522
|
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.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.2084G>A (p.Arg695His)
|
rs373402995
|
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.699+14T>A
|
rs370038491
|
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.-37A>G
|
rs1588303228
|
0.00001
|
NM_001077365.2(POMT1):c.1014C>T (p.His338=)
|
rs886043203
|
0.00001
|
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)
|
rs756973046
|
0.00001
|
NM_001077365.2(POMT1):c.1064T>C (p.Ile355Thr)
|
rs1334264954
|
0.00001
|
NM_001077365.2(POMT1):c.1129G>A (p.Asp377Asn)
|
rs886044066
|
0.00001
|
NM_001077365.2(POMT1):c.1176-2A>G
|
rs746523421
|
0.00001
|
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)
|
rs1564364615
|
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.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.1474C>T (p.Arg492Ter)
|
rs119462985
|
0.00001
|
NM_001077365.2(POMT1):c.1529C>T (p.Ala510Val)
|
rs752732512
|
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.1617G>A (p.Ser539=)
|
rs778687698
|
0.00001
|
NM_001077365.2(POMT1):c.1698+3A>G
|
rs794727191
|
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+9C>T
|
rs747140354
|
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.1939G>A (p.Ala647Thr)
|
rs119462987
|
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.280+1G>T
|
rs746823238
|
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.572C>T (p.Thr191Ile)
|
rs1344992449
|
0.00001
|
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)
|
rs119462982
|
0.00001
|
NM_001077365.2(POMT1):c.599C>G (p.Ala200Gly)
|
rs886043111
|
0.00001
|
NM_001077365.2(POMT1):c.672C>A (p.His224Gln)
|
rs1315200279
|
0.00001
|
NM_001077365.2(POMT1):c.692T>A (p.Leu231Ter)
|
rs759156674
|
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.699+67G>A
|
rs776061161
|
0.00001
|
NM_001077365.2(POMT1):c.700G>A (p.Val234Ile)
|
rs755248350
|
0.00001
|
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr)
|
rs779771679
|
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.*285A>G
|
rs4740259
|
|
NM_001077365.2(POMT1):c.1058G>A (p.Trp353Ter)
|
rs2131683250
|
|
NM_001077365.2(POMT1):c.1062G>T (p.Trp354Cys)
|
rs1564354702
|
|
NM_001077365.2(POMT1):c.1082+2T>C
|
rs2131683729
|
|
NM_001077365.2(POMT1):c.1083-284dup
|
rs75772133
|
|
NM_001077365.2(POMT1):c.1083-9_1083-8del
|
rs781619064
|
|
NM_001077365.2(POMT1):c.1094T>C (p.Val365Ala)
|
rs1251343700
|
|
NM_001077365.2(POMT1):c.111G>A (p.Pro37=)
|
rs761641734
|
|
NM_001077365.2(POMT1):c.1125C>G (p.His375Gln)
|
rs35242383
|
|
NM_001077365.2(POMT1):c.1158del (p.Thr387fs)
|
rs2131708207
|
|
NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys)
|
rs748087053
|
|
NM_001077365.2(POMT1):c.1175+2dup
|
rs886041907
|
|
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.1210C>T (p.Gln404Ter)
|
rs1554778005
|
|
NM_001077365.2(POMT1):c.1214_1215delinsTC (p.Glu405Val)
|
rs398124243
|
|
NM_001077365.2(POMT1):c.122+5G>A
|
rs376753193
|
|
NM_001077365.2(POMT1):c.1221C>T (p.Ser407=)
|
rs1172989588
|
|
NM_001077365.2(POMT1):c.123-6_123-5dup
|
rs148086540
|
|
NM_001077365.2(POMT1):c.1256_1257insACA (p.Gln419dup)
|
rs773942978
|
|
NM_001077365.2(POMT1):c.1272+196C>T
|
rs113330289
|
|
NM_001077365.2(POMT1):c.1272+214_1272+262del
|
rs1456577889
|
|
NM_001077365.2(POMT1):c.1272+249_1272+267del
|
rs139935499
|
|
NM_001077365.2(POMT1):c.1272+249_1272+303del
|
rs1564366378
|
|
NM_001077365.2(POMT1):c.1272+261_1272+262insCTAACACA
|
rs1564366833
|
|
NM_001077365.2(POMT1):c.1272+262_1272+263insGACACTTCCTCACACGGAGCACTTCCTCACAGGGAGCACTTCCTC
|
rs1564366867
|
|
NM_001077365.2(POMT1):c.1272+262_1272+297del
|
rs1564366761
|
|
NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)
|
|
|
NM_001077365.2(POMT1):c.1298_1299del (p.Thr433fs)
|
|
|
NM_001077365.2(POMT1):c.1315A>T (p.Ile439Phe)
|
|
|
NM_001077365.2(POMT1):c.1343T>G (p.Val448Gly)
|
|
|
NM_001077365.2(POMT1):c.1352C>T (p.Ser451Phe)
|
rs890463115
|
|
NM_001077365.2(POMT1):c.1372G>A (p.Gly458Arg)
|
|
|
NM_001077365.2(POMT1):c.1441C>T (p.His481Tyr)
|
|
|
NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter)
|
rs727502854
|
|
NM_001077365.2(POMT1):c.1491G>C (p.Gln497His)
|
rs2131866160
|
|
NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4])
|
rs727502853
|
|
NM_001077365.2(POMT1):c.151A>T (p.Ile51Phe)
|
rs886044651
|
|
NM_001077365.2(POMT1):c.1525C>G (p.Pro509Ala)
|
rs140398617
|
|
NM_001077365.2(POMT1):c.1535T>C (p.Val512Ala)
|
|
|
NM_001077365.2(POMT1):c.1552_1569delinsTGACGTCCTGCTGACG (p.Leu518_Arg523delinsTer)
|
rs1564381395
|
|
NM_001077365.2(POMT1):c.1552del (p.Leu518fs)
|
rs1453641005
|
|
NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys)
|
rs1949475355
|
|
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.1657del (p.Leu553fs)
|
rs794727190
|
|
NM_001077365.2(POMT1):c.1669A>G (p.Ile557Val)
|
|
|
NM_001077365.2(POMT1):c.1678T>C (p.Trp560Arg)
|
|
|
NM_001077365.2(POMT1):c.1698+11G>C
|
rs115243626
|
|
NM_001077365.2(POMT1):c.1699-7C>G
|
rs764871902
|
|
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)
|
rs119462986
|
|
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.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.181T>A (p.Leu61Met)
|
rs886042868
|
|
NM_001077365.2(POMT1):c.1835T>A (p.Leu612Gln)
|
|
|
NM_001077365.2(POMT1):c.1925A>G (p.Tyr642Cys)
|
rs2131922603
|
|
NM_001077365.2(POMT1):c.1933C>T (p.Leu645=)
|
rs750972624
|
|
NM_001077365.2(POMT1):c.195GCC[1] (p.Pro67del)
|
|
|
NM_001077365.2(POMT1):c.197C>G (p.Pro66Arg)
|
rs757903559
|
|
NM_001077365.2(POMT1):c.2004-1_2005del
|
rs1057520142
|
|
NM_001077365.2(POMT1):c.2004-5T>C
|
rs886044271
|
|
NM_001077365.2(POMT1):c.2022C>G (p.Ser674Arg)
|
|
|
NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His)
|
rs113633543
|
|
NM_001077365.2(POMT1):c.2052C>T (p.Tyr684=)
|
|
|
NM_001077365.2(POMT1):c.2080C>G (p.Leu694Val)
|
|
|
NM_001077365.2(POMT1):c.2087C>G (p.Pro696Arg)
|
rs886044354
|
|
NM_001077365.2(POMT1):c.208C>A (p.His70Asn)
|
rs886043485
|
|
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.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs)
|
rs587777819
|
|
NM_001077365.2(POMT1):c.2113_2114dup (p.Pro706fs)
|
rs587777819
|
|
NM_001077365.2(POMT1):c.2143A>C (p.Lys715Gln)
|
rs886044082
|
|
NM_001077365.2(POMT1):c.2144_2147del (p.Lys715fs)
|
rs750453909
|
|
NM_001077365.2(POMT1):c.214G>T (p.Val72Leu)
|
rs780353966
|
|
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg)
|
rs28941782
|
|
NM_001077365.2(POMT1):c.281-285del
|
rs752320381
|
|
NM_001077365.2(POMT1):c.305G>C (p.Trp102Ser)
|
|
|
NM_001077365.2(POMT1):c.33G>T (p.Val11=)
|
|
|
NM_001077365.2(POMT1):c.397G>T (p.Ala133Ser)
|
|
|
NM_001077365.2(POMT1):c.428-2A>G
|
rs1554773448
|
|
NM_001077365.2(POMT1):c.449C>T (p.Ser150Leu)
|
|
|
NM_001077365.2(POMT1):c.452G>C (p.Arg151Thr)
|
rs398124246
|
|
NM_001077365.2(POMT1):c.47A>G (p.Asn16Ser)
|
|
|
NM_001077365.2(POMT1):c.485del (p.Phe162fs)
|
rs1250351189
|
|
NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
|
|
|
NM_001077365.2(POMT1):c.539+3A>C
|
rs780457748
|
|
NM_001077365.2(POMT1):c.574_575del (p.Leu192fs)
|
rs1554773974
|
|
NM_001077365.2(POMT1):c.57T>C (p.Leu19=)
|
rs886043325
|
|
NM_001077365.2(POMT1):c.592T>A (p.Ser198Thr)
|
rs767056835
|
|
NM_001077365.2(POMT1):c.619G>T (p.Gly207Cys)
|
rs1554774121
|
|
NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter)
|
rs747129906
|
|
NM_001077365.2(POMT1):c.640G>T (p.Val214Leu)
|
|
|
NM_001077365.2(POMT1):c.641T>C (p.Val214Ala)
|
rs919829316
|
|
NM_001077365.2(POMT1):c.653C>G (p.Ala218Gly)
|
|
|
NM_001077365.2(POMT1):c.662A>C (p.His221Pro)
|
rs150652167
|
|
NM_001077365.2(POMT1):c.663T>C (p.His221=)
|
rs886043159
|
|
NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro)
|
rs1554774207
|
|
NM_001077365.2(POMT1):c.699+19T>C
|
rs763483567
|
|
NM_001077365.2(POMT1):c.699+64G>C
|
rs746958804
|
|
NM_001077365.2(POMT1):c.699+67del
|
rs1588377489
|
|
NM_001077365.2(POMT1):c.700-92del
|
rs5900942
|
|
NM_001077365.2(POMT1):c.70G>T (p.Gly24Trp)
|
|
|
NM_001077365.2(POMT1):c.711C>G (p.Phe237Leu)
|
rs2131651682
|
|
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.728G>A (p.Arg243Gln)
|
|
|
NM_001077365.2(POMT1):c.728G>C (p.Arg243Pro)
|
rs772980661
|
|
NM_001077365.2(POMT1):c.733G>A (p.Val245Met)
|
|
|
NM_001077365.2(POMT1):c.73A>T (p.Met25Leu)
|
|
|
NM_001077365.2(POMT1):c.767T>A (p.Leu256Ter)
|
rs2131653908
|
|
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile)
|
rs759734493
|
|
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.889C>G (p.Leu297Val)
|
|
|
NM_001077365.2(POMT1):c.901_909del (p.Phe301_Ser303del)
|
|
|
NM_001077365.2(POMT1):c.937A>G (p.Lys313Glu)
|
rs886042835
|
|
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.987-113C>G
|
rs10901068
|
|
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)
|
rs765230689
|
|