NM_001077365.2(POMT1):c.*226T>C

rs3824395

NM_001077365.2(POMT1):c.*41T>C

rs3739495

NM_001077365.2(POMT1):c.20T>C

rs201733950

NM_001077365.2(POMT1):c.3016C>T

rs771949915

NM_001077365.2(POMT1):c.31+16C>G

rs535602204

NM_001077365.2(POMT1):c.31+228dup

rs527286034

NM_001077365.2(POMT1):c.6T>G

rs62620173

NM_001077365.2(POMT1):c.1047T>C (p.Asp349=)

rs3739494

NM_001077365.2(POMT1):c.1082+16G>A

rs59515295

NM_001077365.2(POMT1):c.111G>C (p.Pro37=)

rs761641734

NM_001077365.2(POMT1):c.1125C>T (p.His375=)

rs35242383

NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg)

rs146869947

NM_001077365.2(POMT1):c.1149C>T (p.His383=)

rs202121299

NM_001077365.2(POMT1):c.1175+13G>A

rs777087288

NM_001077365.2(POMT1):c.1175+16G>A

rs371908251

NM_001077365.2(POMT1):c.117616G>A

rs199684856

NM_001077365.2(POMT1):c.1194C>G (p.Pro398=)

rs371653610

NM_001077365.2(POMT1):c.1235dup

rs148086540

NM_001077365.2(POMT1):c.1236_1235dup

rs148086540

NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)

rs11243406

NM_001077365.2(POMT1):c.1275A>G (p.Glu425=)

rs62620174

NM_001077365.2(POMT1):c.129C>T (p.Asp43=)

rs200465419

NM_001077365.2(POMT1):c.1302C>T (p.Asp434=)

rs568246978

NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)

rs377304621

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.1365+15C>T

rs58896330

NM_001077365.2(POMT1):c.136612C>T

rs757666938

NM_001077365.2(POMT1):c.1371C>T (p.Ser457=)

rs746412899

NM_001077365.2(POMT1):c.1416C>T (p.Val472=)

rs139687326

NM_001077365.2(POMT1):c.1443C>T (p.His481=)

rs139415150

NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met)

rs201220016

NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=)

rs62636653

NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val)

rs761439623

NM_001077365.2(POMT1):c.1486+14G>A

rs142995404

NM_001077365.2(POMT1):c.1486+9G>A

rs547775333

NM_001077365.2(POMT1):c.14875G>T

rs747783069

NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)

rs117985576

NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)

rs150367385

NM_001077365.2(POMT1):c.158514C>T

rs78529026

NM_001077365.2(POMT1):c.158547G>T

rs201675418

NM_001077365.2(POMT1):c.1692G>A (p.Arg564=)

rs34954751

NM_001077365.2(POMT1):c.1698+10C>A

rs184131819

NM_001077365.2(POMT1):c.1698+11G>C

rs115243626

NM_001077365.2(POMT1):c.1698+48C>G

rs2277152

NM_001077365.2(POMT1):c.1698C>T (p.Ser566=)

rs150814269

NM_001077365.2(POMT1):c.169919A>G

rs761855332

NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)

rs144338642

NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu)

rs753485021

NM_001077365.2(POMT1):c.1825+19del

rs11345097

NM_001077365.2(POMT1):c.1825+6T>C

rs1366898427

NM_001077365.2(POMT1):c.182640G>A

rs187443595

NM_001077365.2(POMT1):c.18266C>A

rs140258585

NM_001077365.2(POMT1):c.18267C>A

rs148180760

NM_001077365.2(POMT1):c.18267_18266delinsAA

rs1064793740

NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr)

rs773190071

NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val)

rs12115566

NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=)

rs146512619

NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)

rs140553130

NM_001077365.2(POMT1):c.2003+10C>T

rs1474253398

NM_001077365.2(POMT1):c.2003+13C>T

rs4740165

NM_001077365.2(POMT1):c.2003+9G>A

rs368975092

NM_001077365.2(POMT1):c.200420C>T

rs372767898

NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr)

rs535544133

NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val)

rs138171526

NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=)

rs138902646

NM_001077365.2(POMT1):c.2115G>A (p.Ser705=)

rs76092524

NM_001077365.2(POMT1):c.2132C>T (p.Ala711Val)

rs769694503

NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys)

rs147266709

NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter)

rs202202445

NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln)

rs144051476

NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)

rs147143094

NM_001077365.2(POMT1):c.280+7_280+8del

rs561658895

NM_001077365.2(POMT1):c.2815T>C

rs367743923

NM_001077365.2(POMT1):c.330C>G (p.Leu110=)

rs138064523

NM_001077365.2(POMT1):c.345G>A (p.Ser115=)

rs147212285

NM_001077365.2(POMT1):c.427+12G>A

rs372588957

NM_001077365.2(POMT1):c.42821T>C

rs11243404

NM_001077365.2(POMT1):c.42C>T (p.Asp14=)

rs150937126

NM_001077365.2(POMT1):c.501G>A (p.Val167=)

rs757051194

NM_001077365.2(POMT1):c.539+19C>T

rs376642449

NM_001077365.2(POMT1):c.539+3A>G

rs780457748

NM_001077365.2(POMT1):c.568C>T (p.Leu190=)

rs752931210

NM_001077365.2(POMT1):c.57T>C (p.Leu19=)

rs886043325

NM_001077365.2(POMT1):c.60612A>G

rs1057523851

NM_001077365.2(POMT1):c.6069T>C

rs760178838

NM_001077365.2(POMT1):c.630G>A (p.Thr210=)

rs553160213

NM_001077365.2(POMT1):c.633C>T (p.Tyr211=)

rs747129906

NM_001077365.2(POMT1):c.699+33G>A

rs750646014

NM_001077365.2(POMT1):c.699+52C>T

rs3887873

NM_001077365.2(POMT1):c.699+53=

rs2296949

NM_001077365.2(POMT1):c.699+53A>G

rs2296949

NM_001077365.2(POMT1):c.699+72T>C

rs200780140

NM_001077365.2(POMT1):c.699+85C>G

rs369000699

NM_001077365.2(POMT1):c.699+85C>T

rs369000699

NM_001077365.2(POMT1):c.70028A>G

rs187996836

NM_001077365.2(POMT1):c.70048A>G

rs2018621

NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr)

rs779771679

NM_001077365.2(POMT1):c.774C>T (p.Phe258=)

rs761217834

NM_001077365.2(POMT1):c.781G>A (p.Val261Ile)

rs759734493

NM_001077365.2(POMT1):c.78G>A (p.Gly26=)

rs149554732

NM_001077365.2(POMT1):c.803G>A (p.Arg268His)

rs369644530

NM_001077365.2(POMT1):c.855+6T>C

rs200692465

NM_001077365.2(POMT1):c.85649T>G

rs4740163

NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp)

rs886042627

NM_001077365.2(POMT1):c.875C>G (p.Thr292Ser)

rs376471064

NM_001077365.2(POMT1):c.876T>C (p.Thr292=)

rs10901065

NM_001077365.2(POMT1):c.891G>A (p.Leu297=)

rs76109289

NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)

rs4740164

NM_001077365.2(POMT1):c.919C>T (p.Leu307=)

rs983634068

NM_001077365.2(POMT1):c.921G>T (p.Leu307=)

rs371243573

NM_001077365.2(POMT1):c.936G>T (p.Gly312=)

rs797045897

NM_001077365.2(POMT1):c.986+49G>A

rs10901066

NM_001077365.2(POMT1):c.986+9A>G

rs202095070
