NM_001077365.2(POMT1):c.856-49T>G
|
rs4740163
|
0.97653
|
NM_001077365.2(POMT1):c.986+49G>A
|
rs10901066
|
0.88278
|
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.700-48A>G
|
rs2018621
|
0.88264
|
NM_001077365.2(POMT1):c.*226T>C
|
rs3824395
|
0.88255
|
NM_001077365.2(POMT1):c.699+53A>G
|
rs2296949
|
0.88248
|
NM_001077365.2(POMT1):c.*41T>C
|
rs3739495
|
0.88174
|
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.1082+16G>A
|
rs59515295
|
0.14451
|
NM_001077365.2(POMT1):c.699+52C>T
|
rs3887873
|
0.12205
|
NM_001077365.2(POMT1):c.699+53=
|
rs2296949
|
0.11752
|
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.-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.1826-40G>A
|
rs187443595
|
0.00596
|
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.-20T>C
|
rs201733950
|
0.00222
|
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.1585-47G>T
|
rs201675418
|
0.00162
|
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.700-28A>G
|
rs187996836
|
0.00060
|
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.539+19C>T
|
rs376642449
|
0.00023
|
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)
|
rs144338642
|
0.00016
|
NM_001077365.2(POMT1):c.129C>T (p.Asp43=)
|
rs200465419
|
0.00014
|
NM_001077365.2(POMT1):c.568C>T (p.Leu190=)
|
rs752931210
|
0.00012
|
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.1149C>T (p.His383=)
|
rs202121299
|
0.00009
|
NM_001077365.2(POMT1):c.427+12G>A
|
rs372588957
|
0.00009
|
NM_001077365.2(POMT1):c.803G>A (p.Arg268His)
|
rs369644530
|
0.00009
|
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met)
|
rs201220016
|
0.00007
|
NM_001077365.2(POMT1):c.1486+9G>A
|
rs547775333
|
0.00006
|
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr)
|
rs535544133
|
0.00006
|
NM_001077365.2(POMT1):c.1487-5G>T
|
rs747783069
|
0.00005
|
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp)
|
rs886042627
|
0.00005
|
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)
|
rs377304621
|
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.699+85C>G
|
rs369000699
|
0.00004
|
NM_001077365.2(POMT1):c.-30-16C>T
|
rs771949915
|
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.1366-12C>T
|
rs757666938
|
0.00003
|
NM_001077365.2(POMT1):c.1963C>T (p.Leu655Phe)
|
rs547373832
|
0.00003
|
NM_001077365.2(POMT1):c.630G>A (p.Thr210=)
|
rs553160213
|
0.00003
|
NM_001077365.2(POMT1):c.699+72T>C
|
rs200780140
|
0.00003
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001077365.2(POMT1):c.1699-19A>G
|
rs761855332
|
0.00002
|
NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr)
|
rs773190071
|
0.00002
|
NM_001077365.2(POMT1):c.2098G>A (p.Gly700Arg)
|
rs912556508
|
0.00002
|
NM_001077365.2(POMT1):c.-31+16C>G
|
rs535602204
|
0.00001
|
NM_001077365.2(POMT1):c.1371C>T (p.Ser457=)
|
rs746412899
|
0.00001
|
NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val)
|
rs761439623
|
0.00001
|
NM_001077365.2(POMT1):c.1825+6T>C
|
rs1366898427
|
0.00001
|
NM_001077365.2(POMT1):c.345G>A (p.Ser115=)
|
rs147212285
|
0.00001
|
NM_001077365.2(POMT1):c.501G>A (p.Val167=)
|
rs757051194
|
0.00001
|
NM_001077365.2(POMT1):c.539+3A>G
|
rs780457748
|
0.00001
|
NM_001077365.2(POMT1):c.606-9T>C
|
rs760178838
|
0.00001
|
NM_001077365.2(POMT1):c.699+33G>A
|
rs750646014
|
0.00001
|
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr)
|
rs779771679
|
0.00001
|
NM_001077365.2(POMT1):c.774C>T (p.Phe258=)
|
rs761217834
|
0.00001
|
NM_001077365.2(POMT1):c.919C>T (p.Leu307=)
|
rs983634068
|
0.00001
|
NM_001077365.2(POMT1):c.-31+228dup
|
rs527286034
|
|
NM_001077365.2(POMT1):c.1093G>C (p.Val365Leu)
|
|
|
NM_001077365.2(POMT1):c.1176-16G>A
|
rs199684856
|
|
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=)
|
rs371653610
|
|
NM_001077365.2(POMT1):c.123-5dup
|
rs148086540
|
|
NM_001077365.2(POMT1):c.123-6_123-5dup
|
rs148086540
|
|
NM_001077365.2(POMT1):c.1326G>A (p.Glu442=)
|
rs764970702
|
|
NM_001077365.2(POMT1):c.1352C>T (p.Ser451Phe)
|
rs890463115
|
|
NM_001077365.2(POMT1):c.1698+11G>C
|
rs115243626
|
|
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)
|
rs119462986
|
|
NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu)
|
rs753485021
|
|
NM_001077365.2(POMT1):c.1826-7_1826-6delinsAA
|
rs1064793740
|
|
NM_001077365.2(POMT1):c.2003+10C>T
|
rs1474253398
|
|
NM_001077365.2(POMT1):c.2138G>A (p.Arg713His)
|
rs938573554
|
|
NM_001077365.2(POMT1):c.280+7_280+8del
|
rs561658895
|
|
NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
|
|
|
NM_001077365.2(POMT1):c.57T>C (p.Leu19=)
|
rs886043325
|
|
NM_001077365.2(POMT1):c.606-12A>G
|
rs1057523851
|
|
NM_001077365.2(POMT1):c.633C>T (p.Tyr211=)
|
rs747129906
|
|
NM_001077365.2(POMT1):c.699+85C>T
|
rs369000699
|
|
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile)
|
rs759734493
|
|
NM_001077365.2(POMT1):c.936G>T (p.Gly312=)
|
rs797045897
|
|