NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)
|
rs140553130
|
0.00088
|
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.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.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.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.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.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.1109C>T (p.Pro370Leu)
|
rs376258733
|
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+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.1014C>T (p.His338=)
|
rs886043203
|
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.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.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.1698+3A>G
|
rs794727191
|
0.00001
|
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln)
|
rs367709136
|
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.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.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.599C>G (p.Ala200Gly)
|
rs886043111
|
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.724G>A (p.Ala242Thr)
|
rs779771679
|
0.00001
|
NM_001077365.2(POMT1):c.1062G>T (p.Trp354Cys)
|
rs1564354702
|
|
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.1125C>G (p.His375Gln)
|
rs35242383
|
|
NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys)
|
rs748087053
|
|
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.122+5G>A
|
rs376753193
|
|
NM_001077365.2(POMT1):c.1256_1257insACA (p.Gln419dup)
|
rs773942978
|
|
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.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.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.1669A>G (p.Ile557Val)
|
|
|
NM_001077365.2(POMT1):c.1678T>C (p.Trp560Arg)
|
|
|
NM_001077365.2(POMT1):c.1699-7C>G
|
rs764871902
|
|
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.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.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.2004-5T>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.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.2143A>C (p.Lys715Gln)
|
rs886044082
|
|
NM_001077365.2(POMT1):c.214G>T (p.Val72Leu)
|
rs780353966
|
|
NM_001077365.2(POMT1):c.305G>C (p.Trp102Ser)
|
|
|
NM_001077365.2(POMT1):c.397G>T (p.Ala133Ser)
|
|
|
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)
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NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
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NM_001077365.2(POMT1):c.539+3A>C
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rs780457748
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NM_001077365.2(POMT1):c.57T>C (p.Leu19=)
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rs886043325
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NM_001077365.2(POMT1):c.592T>A (p.Ser198Thr)
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rs767056835
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NM_001077365.2(POMT1):c.619G>T (p.Gly207Cys)
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rs1554774121
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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)
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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)
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rs150652167
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NM_001077365.2(POMT1):c.663T>C (p.His221=)
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rs886043159
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NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro)
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rs1554774207
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NM_001077365.2(POMT1):c.699+19T>C
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rs763483567
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NM_001077365.2(POMT1):c.699+64G>C
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rs746958804
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NM_001077365.2(POMT1):c.70G>T (p.Gly24Trp)
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NM_001077365.2(POMT1):c.711C>G (p.Phe237Leu)
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rs2131651682
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NM_001077365.2(POMT1):c.725C>T (p.Ala242Val)
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rs1554774466
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NM_001077365.2(POMT1):c.728G>A (p.Arg243Gln)
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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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|
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NM_001077365.2(POMT1):c.781G>A (p.Val261Ile)
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rs759734493
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NM_001077365.2(POMT1):c.827T>C (p.Met276Thr)
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NM_001077365.2(POMT1):c.833G>C (p.Ser278Thr)
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rs747874952
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NM_001077365.2(POMT1):c.846C>T (p.Ala282=)
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rs886043307
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NM_001077365.2(POMT1):c.852A>T (p.Leu284Phe)
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NM_001077365.2(POMT1):c.889C>G (p.Leu297Val)
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NM_001077365.2(POMT1):c.901_909del (p.Phe301_Ser303del)
|
|
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NM_001077365.2(POMT1):c.937A>G (p.Lys313Glu)
|
rs886042835
|
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NM_001077365.2(POMT1):c.970G>A (p.Asp324Asn)
|
rs886042459
|
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NM_001077365.2(POMT1):c.977A>G (p.Tyr326Cys)
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rs377372480
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NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr)
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rs757984572
|
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