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

rs117985576

0.00169

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.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.2097C>T (p.Tyr699=)

rs138902646

0.00026

NM_001077365.2(POMT1):c.1671T>C (p.Ile557=)

rs200969468

0.00024

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

rs376642449

0.00023

NM_001077365.2(POMT1):c.1614C>T (p.Asp538=)

rs141933812

0.00021

NM_001077365.2(POMT1):c.1116T>C (p.Pro372=)

rs146945848

0.00020

NM_001077365.2(POMT1):c.1175+15C>T

rs200398689

0.00017

NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)

rs199498900

0.00017

NM_001077365.2(POMT1):c.60615G>C

rs201897506

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.1461C>T (p.Asn487=)

rs373482514

0.00012

NM_001077365.2(POMT1):c.396C>T (p.Ala132=)

rs375288218

0.00012

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

rs752931210

0.00012

NM_001077365.2(POMT1):c.2061G>A (p.Ala687=)

rs200916353

0.00011

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

rs371243573

0.00011

NM_001077365.2(POMT1):c.2067C>T (p.His689=)

rs141895982

0.00010

NM_001077365.2(POMT1):c.1740G>A (p.Ser580=)

rs148758906

0.00009

NM_001077365.2(POMT1):c.182617C>T

rs377691462

0.00009

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

rs372588957

0.00009

NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser)

rs182295674

0.00009

NM_001077365.2(POMT1):c.1365+10C>T

rs200089530

0.00007

NM_001077365.2(POMT1):c.1448G>A (p.Ser483Asn)

rs750937093

0.00007

NM_001077365.2(POMT1):c.1746C>T (p.Ser582=)

rs376373313

0.00007

NM_001077365.2(POMT1):c.1251C>T (p.Pro417=)

rs376749638

0.00006

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

rs547775333

0.00006

NM_001077365.2(POMT1):c.1698+7G>A

rs367775263

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.13666C>T

rs781702944

0.00005

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

rs747783069

0.00005

NM_001077365.2(POMT1):c.1825+17C>T

rs200195080

0.00005

NM_001077365.2(POMT1):c.1866C>T (p.Ala622=)

rs200652115

0.00005

NM_001077365.2(POMT1):c.198G>A (p.Pro66=)

rs369877185

0.00005

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

rs777087288

0.00004

NM_001077365.2(POMT1):c.12313T>G

rs773958478

0.00004

NM_001077365.2(POMT1):c.1236T>C

rs201486083

0.00004

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

rs368975092

0.00004

NM_001077365.2(POMT1):c.579A>G (p.Thr193=)

rs775408856

0.00004

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

rs369000699

0.00004

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.136612C>T

rs757666938

0.00003

NM_001077365.2(POMT1):c.1488C>T (p.Ser496=)

rs727503872

0.00003

NM_001077365.2(POMT1):c.1584+10G>A

rs377495957

0.00003

NM_001077365.2(POMT1):c.291C>T (p.Ser97=)

rs780884926

0.00003

NM_001077365.2(POMT1):c.294C>T (p.Asn98=)

rs745810979

0.00003

NM_001077365.2(POMT1):c.600A>G (p.Ala200=)

rs755854450

0.00003

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

rs553160213

0.00003

NM_001077365.2(POMT1):c.117617C>T

rs748114656

0.00002

NM_001077365.2(POMT1):c.12320G>T

rs746071589

0.00002

NM_001077365.2(POMT1):c.1272+17C>T

rs544783137

0.00002

NM_001077365.2(POMT1):c.141T>C (p.Tyr47=)

rs752941420

0.00002

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

rs761855332

0.00002

NM_001077365.2(POMT1):c.182616G>A

rs781195768

0.00002

NM_001077365.2(POMT1):c.2064C>T (p.Cys688=)

rs1335756801

0.00002

NM_001077365.2(POMT1):c.36G>A (p.Thr12=)

rs201262353

0.00002

NM_001077365.2(POMT1):c.408T>G (p.Ala136=)

rs748757994

0.00002

NM_001077365.2(POMT1):c.1014C>T (p.His338=)

rs886043203

0.00001

NM_001077365.2(POMT1):c.1068A>G (p.Val356=)

rs1280401262

0.00001

NM_001077365.2(POMT1):c.1082+19A>G

rs1454823245

0.00001

NM_001077365.2(POMT1):c.1101C>T (p.Ser367=)

rs771523115

0.00001

NM_001077365.2(POMT1):c.1166C>T (p.Ser389Phe)

rs201587241

0.00001

NM_001077365.2(POMT1):c.1167C>T (p.Ser389=)

rs1210555820

0.00001

NM_001077365.2(POMT1):c.1281G>A (p.Val427=)

rs139720304

0.00001

NM_001077365.2(POMT1):c.1341C>T (p.His447=)

rs200731790

0.00001

NM_001077365.2(POMT1):c.1353C>A (p.Ser451=)

rs144385159

0.00001

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

rs746412899

0.00001

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

rs139415150

0.00001

NM_001077365.2(POMT1):c.1452G>A (p.Thr484=)

rs145164375

0.00001

NM_001077365.2(POMT1):c.1486+11G>A

rs755682718

0.00001

NM_001077365.2(POMT1):c.1575G>A (p.Ser525=)

rs753468585

0.00001

NM_001077365.2(POMT1):c.1584+9C>T

rs1219705170

0.00001

NM_001077365.2(POMT1):c.1617G>A (p.Ser539=)

rs778687698

0.00001

NM_001077365.2(POMT1):c.1668T>C (p.Asn556=)

rs1445855043

0.00001

NM_001077365.2(POMT1):c.1758C>T (p.Ala586=)

rs373374873

0.00001

NM_001077365.2(POMT1):c.1764C>T (p.Tyr588=)

rs773343894

0.00001

NM_001077365.2(POMT1):c.1773G>A (p.Leu591=)

rs762810201

0.00001

NM_001077365.2(POMT1):c.1893G>A (p.Pro631=)

rs749582742

0.00001

NM_001077365.2(POMT1):c.1938C>T (p.Pro646=)

rs1481940320

0.00001

NM_001077365.2(POMT1):c.1989C>T (p.Ser663=)

rs764451132

0.00001

NM_001077365.2(POMT1):c.1995C>T (p.His665=)

rs768108650

0.00001

NM_001077365.2(POMT1):c.200419G>A

rs757031997

0.00001

NM_001077365.2(POMT1):c.2058C>T (p.Ser686=)

rs886043948

0.00001

NM_001077365.2(POMT1):c.2079G>A (p.Thr693=)

rs200603905

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+11C>T

rs765291250

0.00001

NM_001077365.2(POMT1):c.427+8C>T

rs201727519

0.00001

NM_001077365.2(POMT1):c.539+13G>T

rs749842555

0.00001

NM_001077365.2(POMT1):c.585C>T (p.Val195=)

rs764110407

0.00001

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

rs760178838

0.00001

NM_001077365.2(POMT1):c.639C>T (p.Leu213=)

rs267602149

0.00001

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

rs750646014

0.00001

NM_001077365.2(POMT1):c.723C>T (p.Leu241=)

rs765290860

0.00001

NM_001077365.2(POMT1):c.753G>A (p.Pro251=)

rs748485512

0.00001

NM_001077365.2(POMT1):c.756C>A (p.Val252=)

rs1286632929

0.00001

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

rs761217834

0.00001

NM_001077365.2(POMT1):c.780C>T (p.Tyr260=)

rs776755041

0.00001

NM_001077365.2(POMT1):c.783C>T (p.Val261=)

rs765387571

0.00001

NM_001077365.2(POMT1):c.816C>T (p.His272=)

rs191404622

0.00001

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

rs983634068

0.00001

NM_001077365.2(POMT1):c.1020A>G (p.Gln340=)



NM_001077365.2(POMT1):c.1029C>A (p.Thr343=)



NM_001077365.2(POMT1):c.1029C>T (p.Thr343=)



NM_001077365.2(POMT1):c.1044A>G (p.Lys348=)



NM_001077365.2(POMT1):c.105C>A (p.Thr35=)



NM_001077365.2(POMT1):c.1078A>C (p.Arg360=)



NM_001077365.2(POMT1):c.1082+11G>C



NM_001077365.2(POMT1):c.1082+14_1082+33del



NM_001077365.2(POMT1):c.1082+18G>C



NM_001077365.2(POMT1):c.1082+19A>T

rs1454823245


NM_001077365.2(POMT1):c.1082+9A>G



NM_001077365.2(POMT1):c.108311G>A



NM_001077365.2(POMT1):c.108320G>A



NM_001077365.2(POMT1):c.10837C>G

rs1428085460


NM_001077365.2(POMT1):c.1086C>T (p.His362=)



NM_001077365.2(POMT1):c.1092G>A (p.Leu364=)



NM_001077365.2(POMT1):c.1110G>A (p.Pro370=)



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

rs761641734


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



NM_001077365.2(POMT1):c.1128G>A (p.Gly376=)



NM_001077365.2(POMT1):c.1146C>T (p.Val382=)

rs757429050


NM_001077365.2(POMT1):c.1152C>T (p.Gly384=)



NM_001077365.2(POMT1):c.1175+10C>T

rs1292261993


NM_001077365.2(POMT1):c.1175+12C>T

rs890396848


NM_001077365.2(POMT1):c.1175+14C>T



NM_001077365.2(POMT1):c.1175+14_1175+16del



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



NM_001077365.2(POMT1):c.1175+18C>A



NM_001077365.2(POMT1):c.1175+7G>T



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

rs199684856


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

rs199684856


NM_001077365.2(POMT1):c.117617C>G



NM_001077365.2(POMT1):c.117619C>G



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.1194C>T (p.Pro398=)



NM_001077365.2(POMT1):c.1195C>T (p.Leu399=)



NM_001077365.2(POMT1):c.1197G>A (p.Leu399=)

rs764535220


NM_001077365.2(POMT1):c.1197G>C (p.Leu399=)

rs764535220


NM_001077365.2(POMT1):c.1200C>T (p.Ser400=)

rs886043851


NM_001077365.2(POMT1):c.1203C>T (p.Pro401=)



NM_001077365.2(POMT1):c.1206T>C (p.His402=)



NM_001077365.2(POMT1):c.122+10A>G



NM_001077365.2(POMT1):c.122+13_122+20dup



NM_001077365.2(POMT1):c.122+14C>T



NM_001077365.2(POMT1):c.122+15T>C



NM_001077365.2(POMT1):c.122+7T>C



NM_001077365.2(POMT1):c.1221C>T (p.Ser407=)

rs1172989588


NM_001077365.2(POMT1):c.1224C>T (p.Cys408=)

rs1392371349


NM_001077365.2(POMT1):c.12311T>G



NM_001077365.2(POMT1):c.12314G>T



NM_001077365.2(POMT1):c.12317G>A



NM_001077365.2(POMT1):c.12318T>G



NM_001077365.2(POMT1):c.12318del

rs1564331634


NM_001077365.2(POMT1):c.12319T>C



NM_001077365.2(POMT1):c.12320GTT[2]

rs769392387


NM_001077365.2(POMT1):c.1234C>T



NM_001077365.2(POMT1):c.1235T>C



NM_001077365.2(POMT1):c.1237T>C



NM_001077365.2(POMT1):c.1251C>A (p.Pro417=)

rs376749638


NM_001077365.2(POMT1):c.1263C>T (p.Leu421=)



NM_001077365.2(POMT1):c.1272+10G>A



NM_001077365.2(POMT1):c.1272+11C>A



NM_001077365.2(POMT1):c.1272+14C>A



NM_001077365.2(POMT1):c.1272+14C>T

rs775878866


NM_001077365.2(POMT1):c.1272+15G>A



NM_001077365.2(POMT1):c.1272+7A>G



NM_001077365.2(POMT1):c.1272+8A>G

rs1948118898


NM_001077365.2(POMT1):c.127310del

rs2131847588


NM_001077365.2(POMT1):c.127315G>A



NM_001077365.2(POMT1):c.127318T>C



NM_001077365.2(POMT1):c.12739T>C



NM_001077365.2(POMT1):c.1293T>C (p.Ser431=)



NM_001077365.2(POMT1):c.1296C>T (p.Asp432=)



NM_001077365.2(POMT1):c.1323A>C (p.Ser441=)

rs753403833


NM_001077365.2(POMT1):c.1326G>A (p.Glu442=)

rs764970702


NM_001077365.2(POMT1):c.1344G>A (p.Val448=)



NM_001077365.2(POMT1):c.1347C>T (p.Asn449=)



NM_001077365.2(POMT1):c.1353C>T (p.Ser451=)



NM_001077365.2(POMT1):c.1365+11T>C



NM_001077365.2(POMT1):c.1365+14C>T



NM_001077365.2(POMT1):c.1365+16G>A



NM_001077365.2(POMT1):c.1365+9A>G

rs2131849509


NM_001077365.2(POMT1):c.136612_136611dup



NM_001077365.2(POMT1):c.136620C>T



NM_001077365.2(POMT1):c.1380C>T (p.His460=)



NM_001077365.2(POMT1):c.138T>C (p.Tyr46=)



NM_001077365.2(POMT1):c.1413C>A (p.Ile471=)

rs769288290


NM_001077365.2(POMT1):c.1413C>T (p.Ile471=)



NM_001077365.2(POMT1):c.1419G>A (p.Gly473=)



NM_001077365.2(POMT1):c.1470G>A (p.Glu490=)



NM_001077365.2(POMT1):c.1473C>T (p.His491=)

rs770742841


NM_001077365.2(POMT1):c.1474C>A (p.Arg492=)



NM_001077365.2(POMT1):c.1486+11G>T

rs755682718


NM_001077365.2(POMT1):c.1486+12G>C



NM_001077365.2(POMT1):c.1486+13C>T



NM_001077365.2(POMT1):c.1486+18C>T



NM_001077365.2(POMT1):c.1486+20T>G



NM_001077365.2(POMT1):c.1486+8C>T



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



NM_001077365.2(POMT1):c.148710G>A



NM_001077365.2(POMT1):c.148718C>T



NM_001077365.2(POMT1):c.1497G>A (p.Gln499=)



NM_001077365.2(POMT1):c.1510C>A (p.Arg504=)



NM_001077365.2(POMT1):c.1530G>A (p.Ala510=)



NM_001077365.2(POMT1):c.1536G>A (p.Val512=)

rs1949458706


NM_001077365.2(POMT1):c.1539C>T (p.Asp513=)



NM_001077365.2(POMT1):c.1551C>T (p.Asn517=)



NM_001077365.2(POMT1):c.1560C>T (p.Phe520=)

rs1588476051


NM_001077365.2(POMT1):c.1566G>A (p.Ala522=)



NM_001077365.2(POMT1):c.1581G>A (p.Leu527=)

rs1378023866


NM_001077365.2(POMT1):c.1584+13C>T

rs2131869164


NM_001077365.2(POMT1):c.1584+14A>G



NM_001077365.2(POMT1):c.1584+14del



NM_001077365.2(POMT1):c.1584+16G>T



NM_001077365.2(POMT1):c.1584+18G>A



NM_001077365.2(POMT1):c.1584+20A>G



NM_001077365.2(POMT1):c.158516C>T



NM_001077365.2(POMT1):c.158516CT[3]



NM_001077365.2(POMT1):c.158518G>C



NM_001077365.2(POMT1):c.158519G>A



NM_001077365.2(POMT1):c.158520A>C



NM_001077365.2(POMT1):c.1599G>A (p.Ala533=)



NM_001077365.2(POMT1):c.1602G>C (p.Leu534=)



NM_001077365.2(POMT1):c.1605A>G (p.Arg535=)



NM_001077365.2(POMT1):c.1611T>C (p.Asp537=)



NM_001077365.2(POMT1):c.1629C>T (p.Tyr543=)



NM_001077365.2(POMT1):c.162C>T (p.Tyr54=)



NM_001077365.2(POMT1):c.1641A>C (p.Pro547=)

rs932156935


NM_001077365.2(POMT1):c.1644G>A (p.Leu548=)

rs2131881178


NM_001077365.2(POMT1):c.1647G>A (p.Glu549=)

rs757830349


NM_001077365.2(POMT1):c.1683G>A (p.Leu561=)



NM_001077365.2(POMT1):c.168A>G (p.Lys56=)



NM_001077365.2(POMT1):c.1695C>A (p.Thr565=)



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



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



NM_001077365.2(POMT1):c.1698+17G>A



NM_001077365.2(POMT1):c.1698+7G>T



NM_001077365.2(POMT1):c.169910del



NM_001077365.2(POMT1):c.169911T>C



NM_001077365.2(POMT1):c.169912A>G



NM_001077365.2(POMT1):c.169920C>G



NM_001077365.2(POMT1):c.169920C>T



NM_001077365.2(POMT1):c.16997C>T

rs764871902


NM_001077365.2(POMT1):c.171A>G (p.Gln57=)



NM_001077365.2(POMT1):c.1731C>A (p.Ile577=)



NM_001077365.2(POMT1):c.1740G>C (p.Ser580=)



NM_001077365.2(POMT1):c.1743C>A (p.Gly581=)



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.1767C>G (p.Ala589=)



NM_001077365.2(POMT1):c.1770G>A (p.Leu590=)



NM_001077365.2(POMT1):c.1786C>T (p.Leu596=)



NM_001077365.2(POMT1):c.1791C>G (p.Leu597=)



NM_001077365.2(POMT1):c.1797G>A (p.Arg599=)

rs2131904951


NM_001077365.2(POMT1):c.1799G>A (p.Arg600Gln)

rs753485021


NM_001077365.2(POMT1):c.1806T>C (p.Asn602=)

rs2131905242


NM_001077365.2(POMT1):c.1825+11C>G



NM_001077365.2(POMT1):c.1825+12T>C



NM_001077365.2(POMT1):c.1825+18A>G



NM_001077365.2(POMT1):c.1825+22_1825+48del



NM_001077365.2(POMT1):c.1825+8C>T



NM_001077365.2(POMT1):c.1825+9C>A



NM_001077365.2(POMT1):c.182610T>C



NM_001077365.2(POMT1):c.182613C>A



NM_001077365.2(POMT1):c.18264A>G



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



NM_001077365.2(POMT1):c.18267_18266delinsAA

rs1064793740


NM_001077365.2(POMT1):c.1827T>C (p.Asp609=)



NM_001077365.2(POMT1):c.1830C>T (p.Ala610=)



NM_001077365.2(POMT1):c.1848G>C (p.Leu616=)

rs370443246


NM_001077365.2(POMT1):c.1857G>A (p.Ala619=)



NM_001077365.2(POMT1):c.1858C>T (p.Leu620=)



NM_001077365.2(POMT1):c.1869T>C (p.Gly623=)



NM_001077365.2(POMT1):c.1890C>T (p.Leu630=)

rs1007091999


NM_001077365.2(POMT1):c.1941A>G (p.Ala647=)



NM_001077365.2(POMT1):c.195G>A (p.Gly65=)



NM_001077365.2(POMT1):c.1974C>T (p.Val658=)



NM_001077365.2(POMT1):c.1975C>T (p.Leu659=)



NM_001077365.2(POMT1):c.2003+14G>A



NM_001077365.2(POMT1):c.2003+17G>A



NM_001077365.2(POMT1):c.2003+18A>C



NM_001077365.2(POMT1):c.2003+18A>G



NM_001077365.2(POMT1):c.2003+20A>G



NM_001077365.2(POMT1):c.2003+8G>A



NM_001077365.2(POMT1):c.200410A>G



NM_001077365.2(POMT1):c.200413C>T



NM_001077365.2(POMT1):c.200416G>A

rs896269640


NM_001077365.2(POMT1):c.200418C>A



NM_001077365.2(POMT1):c.200418C>G



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

rs372767898


NM_001077365.2(POMT1):c.20044G>A



NM_001077365.2(POMT1):c.20045T>G



NM_001077365.2(POMT1):c.20048C>T

rs1950257826


NM_001077365.2(POMT1):c.2016G>A (p.Gln672=)

rs779577551


NM_001077365.2(POMT1):c.2019G>A (p.Arg673=)



NM_001077365.2(POMT1):c.2022C>T (p.Ser674=)



NM_001077365.2(POMT1):c.2028C>T (p.Phe676=)



NM_001077365.2(POMT1):c.2046C>G (p.Ala682=)



NM_001077365.2(POMT1):c.2070G>A (p.Val690=)

rs752855537


NM_001077365.2(POMT1):c.2082G>A (p.Leu694=)



NM_001077365.2(POMT1):c.2103C>T (p.Asp701=)



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



NM_001077365.2(POMT1):c.2118A>T (p.Pro706=)



NM_001077365.2(POMT1):c.2127C>A (p.Leu709=)

rs2131947484


NM_001077365.2(POMT1):c.225G>A (p.Leu75=)



NM_001077365.2(POMT1):c.229+12C>G



NM_001077365.2(POMT1):c.229+12C>T



NM_001077365.2(POMT1):c.229+14G>A

rs1945785020


NM_001077365.2(POMT1):c.229+7G>T



NM_001077365.2(POMT1):c.229+8T>G



NM_001077365.2(POMT1):c.23016T>A



NM_001077365.2(POMT1):c.23017T>C



NM_001077365.2(POMT1):c.2309_2308del

rs2131591743


NM_001077365.2(POMT1):c.240A>G (p.Gly80=)



NM_001077365.2(POMT1):c.249T>C (p.Asp83=)



NM_001077365.2(POMT1):c.252C>G (p.Gly84=)



NM_001077365.2(POMT1):c.273T>C (p.Ile91=)



NM_001077365.2(POMT1):c.280+12T>C



NM_001077365.2(POMT1):c.280+16C>A



NM_001077365.2(POMT1):c.280+16C>T



NM_001077365.2(POMT1):c.280+20T>C



NM_001077365.2(POMT1):c.280+7G>A



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

rs561658895


NM_001077365.2(POMT1):c.28116G>A



NM_001077365.2(POMT1):c.2818T>C



NM_001077365.2(POMT1):c.285C>T (p.Tyr95=)

rs1554772428


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

rs138064523


NM_001077365.2(POMT1):c.333G>A (p.Ala111=)



NM_001077365.2(POMT1):c.357C>T (p.Ala119=)



NM_001077365.2(POMT1):c.360C>T (p.Tyr120=)

rs2131606375


NM_001077365.2(POMT1):c.36G>T (p.Thr12=)



NM_001077365.2(POMT1):c.412C>T (p.Leu138=)



NM_001077365.2(POMT1):c.423T>C (p.Leu141=)



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



NM_001077365.2(POMT1):c.427+17T>G



NM_001077365.2(POMT1):c.427+20C>G



NM_001077365.2(POMT1):c.42811C>T



NM_001077365.2(POMT1):c.4287G>A



NM_001077365.2(POMT1):c.4287G>T



NM_001077365.2(POMT1):c.4288T>C



NM_001077365.2(POMT1):c.435T>A (p.Ala145=)



NM_001077365.2(POMT1):c.463T>C (p.Leu155=)



NM_001077365.2(POMT1):c.498C>T (p.Ala166=)



NM_001077365.2(POMT1):c.504G>A (p.Leu168=)



NM_001077365.2(POMT1):c.539+15G>A



NM_001077365.2(POMT1):c.539+20T>G



NM_001077365.2(POMT1):c.539+9A>G

rs964407139


NM_001077365.2(POMT1):c.5404C>G



NM_001077365.2(POMT1):c.5408T>C



NM_001077365.2(POMT1):c.570A>T (p.Leu190=)



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

rs1057523851


NM_001077365.2(POMT1):c.60613C>T



NM_001077365.2(POMT1):c.60614T>C



NM_001077365.2(POMT1):c.621T>C (p.Gly207=)



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

rs747129906


NM_001077365.2(POMT1):c.636G>T (p.Val212=)



NM_001077365.2(POMT1):c.63C>T (p.Ala21=)



NM_001077365.2(POMT1):c.673C>T (p.Leu225=)



NM_001077365.2(POMT1):c.675G>A (p.Leu225=)



NM_001077365.2(POMT1):c.688A>T (p.Thr230Ser)



NM_001077365.2(POMT1):c.699+39T>C



NM_001077365.2(POMT1):c.699+45G>T



NM_001077365.2(POMT1):c.699+73G>C



NM_001077365.2(POMT1):c.699+74G>T



NM_001077365.2(POMT1):c.699+75T>C



NM_001077365.2(POMT1):c.699+76G>T



NM_001077365.2(POMT1):c.699+81G>A



NM_001077365.2(POMT1):c.699+83_699+84insAT



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

rs369000699


NM_001077365.2(POMT1):c.699T>C (p.Asn233=)



NM_001077365.2(POMT1):c.7006T>C



NM_001077365.2(POMT1):c.7007C>T

rs1588380391


NM_001077365.2(POMT1):c.708G>A (p.Val236=)



NM_001077365.2(POMT1):c.729A>G (p.Arg243=)

rs2131652629


NM_001077365.2(POMT1):c.732A>C (p.Ala244=)



NM_001077365.2(POMT1):c.744G>A (p.Leu248=)



NM_001077365.2(POMT1):c.759C>G (p.Val253=)



NM_001077365.2(POMT1):c.762G>A (p.Leu254=)



NM_001077365.2(POMT1):c.804C>T (p.Arg268=)



NM_001077365.2(POMT1):c.813C>T (p.Pro271=)



NM_001077365.2(POMT1):c.846C>T (p.Ala282=)

rs886043307


NM_001077365.2(POMT1):c.84G>C (p.Leu28=)



NM_001077365.2(POMT1):c.855+12G>A



NM_001077365.2(POMT1):c.855+17C>T



NM_001077365.2(POMT1):c.855+19del



NM_001077365.2(POMT1):c.855+20C>T



NM_001077365.2(POMT1):c.855+7A>G



NM_001077365.2(POMT1):c.85615C>G

rs1947072981


NM_001077365.2(POMT1):c.85616_85614del



NM_001077365.2(POMT1):c.85617T>G



NM_001077365.2(POMT1):c.85618C>T



NM_001077365.2(POMT1):c.8565C>T

rs970574744


NM_001077365.2(POMT1):c.8566T>C



NM_001077365.2(POMT1):c.870G>A (p.Arg290=)



NM_001077365.2(POMT1):c.885G>A (p.Gln295=)



NM_001077365.2(POMT1):c.888A>G (p.Pro296=)



NM_001077365.2(POMT1):c.889C>T (p.Leu297=)



NM_001077365.2(POMT1):c.897G>A (p.Val299=)



NM_001077365.2(POMT1):c.900C>G (p.Ala300=)



NM_001077365.2(POMT1):c.927C>T (p.Asn309=)

rs753694905


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



NM_001077365.2(POMT1):c.948C>T (p.Pro316=)



NM_001077365.2(POMT1):c.986+10T>C



NM_001077365.2(POMT1):c.986+11G>A



NM_001077365.2(POMT1):c.986+12dup



NM_001077365.2(POMT1):c.9874A>G



NM_001077365.2(POMT1):c.9875C>T



NM_001077365.2(POMT1):c.990T>C (p.Tyr330=)



NM_001077365.2(POMT1):c.993G>A (p.Glu331=)



NM_001077365.2(POMT1):c.996C>T (p.Asn332=)


