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.*226T>C
|
rs3824395
|
0.88255
|
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.2137C>T (p.Arg713Cys)
|
rs147266709
|
0.00982
|
NM_001077365.2(POMT1):c.78G>A (p.Gly26=)
|
rs149554732
|
0.00980
|
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.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.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.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.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.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.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.30G>A (p.Val10=)
|
rs201533471
|
0.00006
|
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)
|
rs747506380
|
0.00006
|
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.123-6T>C
|
rs201486083
|
0.00004
|
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)
|
rs377304621
|
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.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.1330C>T (p.Arg444Cys)
|
rs752384050
|
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.634G>A (p.Val212Met)
|
rs746119386
|
0.00003
|
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile)
|
rs772590277
|
0.00003
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
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.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+6C>T
|
rs180847856
|
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.1014C>T (p.His338=)
|
rs886043203
|
0.00001
|
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)
|
rs756973046
|
0.00001
|
NM_001077365.2(POMT1):c.1129G>A (p.Asp377Asn)
|
rs886044066
|
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.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.1698+3A>G
|
rs794727191
|
0.00001
|
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln)
|
rs367709136
|
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.345G>A (p.Ser115=)
|
rs147212285
|
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.699+1G>A
|
rs1275810616
|
0.00001
|
NM_001077365.2(POMT1):c.699+67G>A
|
rs776061161
|
0.00001
|
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr)
|
rs779771679
|
0.00001
|
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.1162C>T (p.Arg388Cys)
|
rs748087053
|
|
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.1214_1215delinsTC (p.Glu405Val)
|
rs398124243
|
|
NM_001077365.2(POMT1):c.122+5G>A
|
rs376753193
|
|
NM_001077365.2(POMT1):c.123-5dup
|
rs148086540
|
|
NM_001077365.2(POMT1):c.123-6_123-5dup
|
rs148086540
|
|
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.1647G>A (p.Glu549=)
|
rs757830349
|
|
NM_001077365.2(POMT1):c.1657del (p.Leu553fs)
|
rs794727190
|
|
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.181T>A (p.Leu61Met)
|
rs886042868
|
|
NM_001077365.2(POMT1):c.1933C>T (p.Leu645=)
|
rs750972624
|
|
NM_001077365.2(POMT1):c.197C>G (p.Pro66Arg)
|
rs757903559
|
|
NM_001077365.2(POMT1):c.2004-5T>C
|
rs886044271
|
|
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.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001077365.2(POMT1):c.2143A>C (p.Lys715Gln)
|
rs886044082
|
|
NM_001077365.2(POMT1):c.214G>T (p.Val72Leu)
|
rs780353966
|
|
NM_001077365.2(POMT1):c.452G>C (p.Arg151Thr)
|
rs398124246
|
|
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.641T>C (p.Val214Ala)
|
rs919829316
|
|
NM_001077365.2(POMT1):c.663T>C (p.His221=)
|
rs886043159
|
|
NM_001077365.2(POMT1):c.699+19T>C
|
rs763483567
|
|
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.846C>T (p.Ala282=)
|
rs886043307
|
|
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.990T>A (p.Tyr330Ter)
|
rs765230689
|
|