ClinVar Miner

List of variants in gene POMT1

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Gene type:
ClinVar version:
Total variants: 526
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HGVS dbSNP
NC_000009.11:g.(?_134379574)_(134398503_?)dup
NM_001077365.2(POMT1):c.*105G>A rs886063539
NM_001077365.2(POMT1):c.*182T>C rs535816758
NM_001077365.2(POMT1):c.*206A>G
NM_001077365.2(POMT1):c.*226T>C rs3824395
NM_001077365.2(POMT1):c.*25C>T rs115818625
NM_001077365.2(POMT1):c.*274T>A rs886063540
NM_001077365.2(POMT1):c.*278T>C rs10793885
NM_001077365.2(POMT1):c.*285A>G rs4740259
NM_001077365.2(POMT1):c.*330G>A
NM_001077365.2(POMT1):c.*338T>G rs193003183
NM_001077365.2(POMT1):c.*348C>T rs7857419
NM_001077365.2(POMT1):c.*370C>G
NM_001077365.2(POMT1):c.*37G>A
NM_001077365.2(POMT1):c.*381G>A
NM_001077365.2(POMT1):c.*41T>C rs3739495
NM_001077365.2(POMT1):c.*421G>A rs10257
NM_001077365.2(POMT1):c.*448C>T
NM_001077365.2(POMT1):c.*453T>C rs11005
NM_001077365.2(POMT1):c.*529G>A rs116005066
NM_001077365.2(POMT1):c.*591C>T
NM_001077365.2(POMT1):c.*613C>T
NM_001077365.2(POMT1):c.*614G>A rs373680261
NM_001077365.2(POMT1):c.*635T>G rs112845474
NM_001077365.2(POMT1):c.*64T>A
NM_001077365.2(POMT1):c.*68C>T rs773474667
NM_001077365.2(POMT1):c.*693C>T rs886063541
NM_001077365.2(POMT1):c.-168G>C rs556267289
NM_001077365.2(POMT1):c.-20T>C rs201733950
NM_001077365.2(POMT1):c.-22C>T rs748211086
NM_001077365.2(POMT1):c.-30-16C>T rs771949915
NM_001077365.2(POMT1):c.-30G>A rs780382988
NM_001077365.2(POMT1):c.-31+16C>G rs535602204
NM_001077365.2(POMT1):c.-31+228dup rs527286034
NM_001077365.2(POMT1):c.-37A>G rs1588303228
NM_001077365.2(POMT1):c.-6T>G rs62620173
NM_001077365.2(POMT1):c.-83C>T
NM_001077365.2(POMT1):c.1014C>T (p.His338=) rs886043203
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter) rs756973046
NM_001077365.2(POMT1):c.1036C>T (p.Pro346Ser)
NM_001077365.2(POMT1):c.1047= (p.Asp349=) rs3739494
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=) rs3739494
NM_001077365.2(POMT1):c.1052A>G (p.Asn351Ser)
NM_001077365.2(POMT1):c.1062G>T (p.Trp354Cys) rs1564354702
NM_001077365.2(POMT1):c.1064T>C (p.Ile355Thr) rs1334264954
NM_001077365.2(POMT1):c.1068A>G (p.Val356=) rs1280401262
NM_001077365.2(POMT1):c.1082+16G>A rs59515295
NM_001077365.2(POMT1):c.1083-180G>A rs7865761
NM_001077365.2(POMT1):c.1083-224G>A rs77125240
NM_001077365.2(POMT1):c.1083-284dup rs75772133
NM_001077365.2(POMT1):c.1083-7C>G
NM_001077365.2(POMT1):c.1083-9_1083-8del rs781619064
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn) rs141229412
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620
NM_001077365.2(POMT1):c.1091del (p.Leu364fs)
NM_001077365.2(POMT1):c.1094T>C (p.Val365Ala) rs1251343700
NM_001077365.2(POMT1):c.1101C>T (p.Ser367=) rs771523115
NM_001077365.2(POMT1):c.1109C>T (p.Pro370Leu)
NM_001077365.2(POMT1):c.110_113dup (p.Val40fs)
NM_001077365.2(POMT1):c.1110G>T (p.Pro370=)
NM_001077365.2(POMT1):c.1116T>C (p.Pro372=) rs146945848
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760
NM_001077365.2(POMT1):c.111G>A (p.Pro37=) rs761641734
NM_001077365.2(POMT1):c.111G>C (p.Pro37=) rs761641734
NM_001077365.2(POMT1):c.1125C>G (p.His375Gln)
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.1127G>A (p.Gly376Glu)
NM_001077365.2(POMT1):c.1129G>A (p.Asp377Asn) rs886044066
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177
NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys) rs748087053
NM_001077365.2(POMT1):c.1163G>A (p.Arg388His) rs138640226
NM_001077365.2(POMT1):c.1167C>T (p.Ser389=)
NM_001077365.2(POMT1):c.1175+13G>A rs777087288
NM_001077365.2(POMT1):c.1175+16G>A rs371908251
NM_001077365.2(POMT1):c.1175+1G>A rs1051679985
NM_001077365.2(POMT1):c.1175+2dup rs886041907
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077365.2(POMT1):c.1175C>T (p.Thr392Met) rs397515400
NM_001077365.2(POMT1):c.1176-16G>A rs199684856
NM_001077365.2(POMT1):c.1176-2A>G
NM_001077365.2(POMT1):c.1176G>C (p.Thr392=)
NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp) rs1564364465
NM_001077365.2(POMT1):c.1193C>T (p.Pro398Leu) rs776388419
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.1194_1196del (p.Leu399del) rs587777818
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615
NM_001077365.2(POMT1):c.1196del (p.Leu399fs)
NM_001077365.2(POMT1):c.1199G>C (p.Ser400Thr) rs149575164
NM_001077365.2(POMT1):c.1200C>T (p.Ser400=) rs886043851
NM_001077365.2(POMT1):c.1204dup (p.His402fs)
NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter) rs1554778005
NM_001077365.2(POMT1):c.1214_1215delinsTC (p.Glu405Val) rs398124243
NM_001077365.2(POMT1):c.122+5G>A rs376753193
NM_001077365.2(POMT1):c.1224C>T (p.Cys408=)
NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys)
NM_001077365.2(POMT1):c.1229T>C (p.Ile410Thr) rs1554778053
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6T>C rs201486083
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406
NM_001077365.2(POMT1):c.1249C>T (p.Pro417Ser)
NM_001077365.2(POMT1):c.1251C>A (p.Pro417=)
NM_001077365.2(POMT1):c.1251C>T (p.Pro417=)
NM_001077365.2(POMT1):c.1252G>A (p.Ala418Thr) rs142057517
NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val) rs369651101
NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter)
NM_001077365.2(POMT1):c.1256_1257insACA (p.Gln419dup) rs773942978
NM_001077365.2(POMT1):c.1272+196C>T rs113330289
NM_001077365.2(POMT1):c.1272+249_1272+303del rs1564366378
NM_001077365.2(POMT1):c.1272+262G>C rs113878457
NM_001077365.2(POMT1):c.1272+2T>C rs1564365317
NM_001077365.2(POMT1):c.1272+84C>T rs77373739
NM_001077365.2(POMT1):c.1272+8A>G
NM_001077365.2(POMT1):c.1273-10del
NM_001077365.2(POMT1):c.1273-70C>T rs113628769
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174
NM_001077365.2(POMT1):c.1281G>A (p.Val427=) rs139720304
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.1311G>A (p.Lys437=)
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.132A>C (p.Glu44Asp) rs398124244
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys) rs752384050
NM_001077365.2(POMT1):c.1331G>A (p.Arg444His) rs758736387
NM_001077365.2(POMT1):c.1349C>A (p.Thr450Asn) rs757785909
NM_001077365.2(POMT1):c.1352C>T (p.Ser451Phe) rs890463115
NM_001077365.2(POMT1):c.1353C>A (p.Ser451=)
NM_001077365.2(POMT1):c.1354G>A (p.Ala452Thr) rs150702948
NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile)
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter) rs1554780670
NM_001077365.2(POMT1):c.1365+10C>T rs200089530
NM_001077365.2(POMT1):c.1365+15C>T rs58896330
NM_001077365.2(POMT1):c.1366-12C>T rs757666938
NM_001077365.2(POMT1):c.1366-61A>G rs1547768
NM_001077365.2(POMT1):c.1366-6C>T rs781702944
NM_001077365.2(POMT1):c.1371C>T (p.Ser457=) rs746412899
NM_001077365.2(POMT1):c.1381C>T (p.Leu461Phe) rs749458250
NM_001077365.2(POMT1):c.1384C>T (p.Pro462Ser)
NM_001077365.2(POMT1):c.1390T>G (p.Trp464Gly)
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser) rs746849558
NM_001077365.2(POMT1):c.1399C>T (p.Arg467Trp)
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg)
NM_001077365.2(POMT1):c.141T>C (p.Tyr47=) rs752941420
NM_001077365.2(POMT1):c.1426C>G (p.Leu476Val)
NM_001077365.2(POMT1):c.1432C>T (p.Arg478Trp)
NM_001077365.2(POMT1):c.1433G>A (p.Arg478Gln)
NM_001077365.2(POMT1):c.1436G>C (p.Gly479Ala)
NM_001077365.2(POMT1):c.1439A>G (p.Tyr480Cys)
NM_001077365.2(POMT1):c.1443C>T (p.His481=) rs139415150
NM_001077365.2(POMT1):c.1444G>A (p.Gly482Arg)
NM_001077365.2(POMT1):c.1448G>A (p.Ser483Asn) rs750937093
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met) rs201220016
NM_001077365.2(POMT1):c.1452G>A (p.Thr484=)
NM_001077365.2(POMT1):c.1457G>A (p.Trp486Ter)
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) rs373482514
NM_001077365.2(POMT1):c.1462G>A (p.Val488Met) rs748365119
NM_001077365.2(POMT1):c.1465GAG[1] (p.Glu490del)
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) rs119462985
NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter) rs727502854
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653
NM_001077365.2(POMT1):c.1480G>A (p.Gly494Ser) rs200204923
NM_001077365.2(POMT1):c.1483G>A (p.Ala495Thr) rs774039973
NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val) rs761439623
NM_001077365.2(POMT1):c.1485G>A (p.Ala495=)
NM_001077365.2(POMT1):c.1486+10C>T rs373393733
NM_001077365.2(POMT1):c.1486+14G>A rs142995404
NM_001077365.2(POMT1):c.1486+9G>A rs547775333
NM_001077365.2(POMT1):c.1487-130A>G rs2010635
NM_001077365.2(POMT1):c.1487-164G>A rs749591
NM_001077365.2(POMT1):c.1487-166G>A rs749590
NM_001077365.2(POMT1):c.1487-5G>T rs747783069
NM_001077365.2(POMT1):c.1488C>T (p.Ser496=) rs727503872
NM_001077365.2(POMT1):c.1490_1498del (p.Gln497_Gln499del)
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576
NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4]) rs727502853
NM_001077365.2(POMT1):c.1507G>A (p.Glu503Lys)
NM_001077365.2(POMT1):c.1511G>A (p.Arg504Gln) rs370705614
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.1528G>A (p.Ala510Thr)
NM_001077365.2(POMT1):c.1529C>T (p.Ala510Val) rs752732512
NM_001077365.2(POMT1):c.1536G>A (p.Val512=)
NM_001077365.2(POMT1):c.1540G>A (p.Val514Ile) rs984288781
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385
NM_001077365.2(POMT1):c.1548G>C (p.Arg516Ser)
NM_001077365.2(POMT1):c.154T>C (p.Ser52Pro) rs1554771665
NM_001077365.2(POMT1):c.1552_1569delinsTGACGTCCTGCTGACG (p.Leu518_Arg523delinsTer) rs1564381395
NM_001077365.2(POMT1):c.1552del (p.Leu518fs) rs1453641005
NM_001077365.2(POMT1):c.1555A>G (p.Ser519Gly) rs1564381465
NM_001077365.2(POMT1):c.1560C>T (p.Phe520=) rs1588476051
NM_001077365.2(POMT1):c.1565C>T (p.Ala522Val)
NM_001077365.2(POMT1):c.1571T>G (p.Phe524Cys) rs138825095
NM_001077365.2(POMT1):c.1574C>T (p.Ser525Leu)
NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys)
NM_001077365.2(POMT1):c.1581G>A (p.Leu527=)
NM_001077365.2(POMT1):c.1584+10G>A rs377495957
NM_001077365.2(POMT1):c.1584+9C>T rs1219705170
NM_001077365.2(POMT1):c.1585-14C>T rs78529026
NM_001077365.2(POMT1):c.1585-47G>T rs201675418
NM_001077365.2(POMT1):c.1585T>C (p.Trp529Arg)
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341
NM_001077365.2(POMT1):c.1601T>C (p.Leu534Pro) rs1489617043
NM_001077365.2(POMT1):c.160_161insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTACATCTCTTTTT (p.Tyr54delinsPhePhePhePhePheXaaXaaXaaXaaHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer)
NM_001077365.2(POMT1):c.1614C>T (p.Asp538=) rs141933812
NM_001077365.2(POMT1):c.1616C>T (p.Ser539Leu)
NM_001077365.2(POMT1):c.1617G>A (p.Ser539=) rs778687698
NM_001077365.2(POMT1):c.1627T>C (p.Tyr543His) rs1192384406
NM_001077365.2(POMT1):c.1637G>C (p.Ser546Thr)
NM_001077365.2(POMT1):c.1639C>T (p.Pro547Ser) rs1588482418
NM_001077365.2(POMT1):c.1641A>C (p.Pro547=)
NM_001077365.2(POMT1):c.1644G>A (p.Leu548=)
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=) rs757830349
NM_001077365.2(POMT1):c.1657del (p.Leu553fs) rs794727190
NM_001077365.2(POMT1):c.1658T>C (p.Leu553Pro) rs777490066
NM_001077365.2(POMT1):c.1668T>C (p.Asn556=)
NM_001077365.2(POMT1):c.1671T>C (p.Ile557=) rs200969468
NM_001077365.2(POMT1):c.1671del (p.Ile557fs)
NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys) rs119462984
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751
NM_001077365.2(POMT1):c.1698+107C>A rs2277153
NM_001077365.2(POMT1):c.1698+10C>A rs184131819
NM_001077365.2(POMT1):c.1698+11G>C rs115243626
NM_001077365.2(POMT1):c.1698+1G>A rs763586263
NM_001077365.2(POMT1):c.1698+233C>T rs62580581
NM_001077365.2(POMT1):c.1698+3A>G rs794727191
NM_001077365.2(POMT1):c.1698+48C>G rs2277152
NM_001077365.2(POMT1):c.1698+6C>T rs180847856
NM_001077365.2(POMT1):c.1698+7G>A rs367775263
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269
NM_001077365.2(POMT1):c.1699-19A>G rs761855332
NM_001077365.2(POMT1):c.1699-1G>A
NM_001077365.2(POMT1):c.1699-339A>G rs4740258
NM_001077365.2(POMT1):c.1699-7C>G rs764871902
NM_001077365.2(POMT1):c.1699-7C>T
NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter)
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) rs119462986
NM_001077365.2(POMT1):c.1705A>C (p.Ile569Leu) rs1588493803
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val) rs749978093
NM_001077365.2(POMT1):c.1735G>C (p.Val579Leu) rs1588494128
NM_001077365.2(POMT1):c.1740G>A (p.Ser580=) rs148758906
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=) rs376373313
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.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.1758C>T (p.Ala586=)
NM_001077365.2(POMT1):c.1763A>G (p.Tyr588Cys) rs772131719
NM_001077365.2(POMT1):c.1765G>A (p.Ala589Thr) rs747138675
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu) rs1564332130
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter) rs761848742
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413
NM_001077365.2(POMT1):c.1795C>T (p.Arg599Trp) rs150899645
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln) rs367709136
NM_001077365.2(POMT1):c.1797G>A (p.Arg599=)
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) rs794727208
NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu) rs753485021
NM_001077365.2(POMT1):c.1806T>C (p.Asn602=)
NM_001077365.2(POMT1):c.181T>A (p.Leu61Met) rs886042868
NM_001077365.2(POMT1):c.1823A>G (p.Gln608Arg) rs145021255
NM_001077365.2(POMT1):c.1825+198C>G rs7849433
NM_001077365.2(POMT1):c.1825+19del rs11345097
NM_001077365.2(POMT1):c.1825+237T>C rs113453750
NM_001077365.2(POMT1):c.1825+6T>C rs1366898427
NM_001077365.2(POMT1):c.1825+9C>T rs747140354
NM_001077365.2(POMT1):c.1826-248T>C rs7870715
NM_001077365.2(POMT1):c.1826-268G>A rs61584357
NM_001077365.2(POMT1):c.1826-40G>A rs187443595
NM_001077365.2(POMT1):c.1826-6C>A rs140258585
NM_001077365.2(POMT1):c.1826-7C>A rs148180760
NM_001077365.2(POMT1):c.1826-7_1826-6delinsAA rs1064793740
NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr) rs773190071
NM_001077365.2(POMT1):c.1837C>T (p.Arg613Cys) rs759135168
NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs) rs1315540509
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His) rs147601415
NM_001077365.2(POMT1):c.183G>A (p.Leu61=)
NM_001077365.2(POMT1):c.1848G>C (p.Leu616=)
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566
NM_001077365.2(POMT1):c.1866C>T (p.Ala622=) rs200652115
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) rs756303645
NM_001077365.2(POMT1):c.1890C>T (p.Leu630=)
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171
NM_001077365.2(POMT1):c.1907A>G (p.Glu636Gly)
NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe) rs777437871
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619
NM_001077365.2(POMT1):c.1933C>T (p.Leu645=) rs750972624
NM_001077365.2(POMT1):c.1938C>T (p.Pro646=) rs1481940320
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg) rs119462983
NM_001077365.2(POMT1):c.197C>G (p.Pro66Arg) rs757903559
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130
NM_001077365.2(POMT1):c.198G>A (p.Pro66=) rs369877185
NM_001077365.2(POMT1):c.2002A>C (p.Arg668=)
NM_001077365.2(POMT1):c.2003+10C>T rs1474253398
NM_001077365.2(POMT1):c.2003+13C>T rs4740165
NM_001077365.2(POMT1):c.2003+4C>T rs766635497
NM_001077365.2(POMT1):c.2003+9G>A rs368975092
NM_001077365.2(POMT1):c.2004-1G>C rs745738628
NM_001077365.2(POMT1):c.2004-1_2005del rs1057520142
NM_001077365.2(POMT1):c.2004-20C>T rs372767898
NM_001077365.2(POMT1):c.2004-5T>C rs886044271
NM_001077365.2(POMT1):c.2004-70C>T rs10122068
NM_001077365.2(POMT1):c.2004-9C>T rs886063538
NM_001077365.2(POMT1):c.2027T>C (p.Phe676Ser) rs1201402718
NM_001077365.2(POMT1):c.202T>C (p.Phe68Leu) rs138433752
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=) rs778418119
NM_001077365.2(POMT1):c.2044dup (p.Ala682fs) rs587777817
NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His)
NM_001077365.2(POMT1):c.2058C>T (p.Ser686=) rs886043948
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133
NM_001077365.2(POMT1):c.205G>A (p.Gly69Ser)
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=) rs200916353
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) rs141895982
NM_001077365.2(POMT1):c.2067C>T (p.His689=) rs141895982
NM_001077365.2(POMT1):c.2068G>A (p.Val690Met) rs150209587
NM_001077365.2(POMT1):c.2070G>A (p.Val690=)
NM_001077365.2(POMT1):c.2078C>T (p.Thr693Met)
NM_001077365.2(POMT1):c.2079G>A (p.Thr693=) rs200603905
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) rs200179598
NM_001077365.2(POMT1):c.2084G>A (p.Arg695His) rs373402995
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.2090T>A (p.Leu697His) rs753872714
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646
NM_001077365.2(POMT1):c.2098G>A (p.Gly700Arg)
NM_001077365.2(POMT1):c.2098G>T (p.Gly700Trp)
NM_001077365.2(POMT1):c.2101G>T (p.Asp701Tyr) rs771877812
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs) rs587777819
NM_001077365.2(POMT1):c.2113_2114dup (p.Pro706fs) rs587777819
NM_001077365.2(POMT1):c.2114C>T (p.Ser705Leu)
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524
NM_001077365.2(POMT1):c.2123A>T (p.Glu708Val) rs975505270
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro) rs776988725
NM_001077365.2(POMT1):c.2127C>A (p.Leu709=)
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.2138G>A (p.Arg713His) rs938573554
NM_001077365.2(POMT1):c.2143A>C (p.Lys715Gln) rs886044082
NM_001077365.2(POMT1):c.2144_2147del (p.Lys715fs) rs750453909
NM_001077365.2(POMT1):c.2144_2147dup (p.Asp716fs) rs750453909
NM_001077365.2(POMT1):c.2145_2156del (p.Lys715_Asp719delinsAsn)
NM_001077365.2(POMT1):c.214G>T (p.Val72Leu) rs780353966
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.2178G>C (p.Ter726Tyr)
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg) rs28941782
NM_001077365.2(POMT1):c.229+2T>C
NM_001077365.2(POMT1):c.246C>T (p.Phe82=) rs148887050
NM_001077365.2(POMT1):c.247G>A (p.Asp83Asn) rs530211718
NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter)
NM_001077365.2(POMT1):c.26T>C (p.Val9Ala)
NM_001077365.2(POMT1):c.280+1G>T rs746823238
NM_001077365.2(POMT1):c.280+271G>A rs10448341
NM_001077365.2(POMT1):c.280+7_280+8del rs561658895
NM_001077365.2(POMT1):c.281-199G>A rs6597500
NM_001077365.2(POMT1):c.281-5T>C rs367743923
NM_001077365.2(POMT1):c.281-82C>T rs6597501
NM_001077365.2(POMT1):c.285C>T (p.Tyr95=) rs1554772428
NM_001077365.2(POMT1):c.291C>T (p.Ser97=)
NM_001077365.2(POMT1):c.30G>A (p.Val10=) rs201533471
NM_001077365.2(POMT1):c.310C>T (p.Leu104=) rs146982282
NM_001077365.2(POMT1):c.328C>T (p.Leu110Phe) rs1338443127
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.330C>T (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.332C>T (p.Ala111Val) rs371531181
NM_001077365.2(POMT1):c.345G>A (p.Ser115=) rs147212285
NM_001077365.2(POMT1):c.367G>T (p.Val123Leu) rs1424629668
NM_001077365.2(POMT1):c.36G>A (p.Thr12=) rs201262353
NM_001077365.2(POMT1):c.389A>C (p.His130Pro) rs752880907
NM_001077365.2(POMT1):c.401T>C (p.Met134Thr) rs780170650
NM_001077365.2(POMT1):c.408T>G (p.Ala136=) rs748757994
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)
NM_001077365.2(POMT1):c.418_420del (p.Met140del) rs587777820
NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe) rs141833028
NM_001077365.2(POMT1):c.425T>C (p.Ile142Thr) rs746950128
NM_001077365.2(POMT1):c.426C>T (p.Ile142=) rs771390000
NM_001077365.2(POMT1):c.427+12G>A rs372588957
NM_001077365.2(POMT1):c.427+1G>A
NM_001077365.2(POMT1):c.427+1_427+2insA
NM_001077365.2(POMT1):c.427+8C>T rs201727519
NM_001077365.2(POMT1):c.428-21T>C rs11243404
NM_001077365.2(POMT1):c.428-232A>G rs10793880
NM_001077365.2(POMT1):c.428-2A>G rs1554773448
NM_001077365.2(POMT1):c.428-340C>T rs10901063
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp) rs397514501
NM_001077365.2(POMT1):c.443C>A (p.Thr148Asn) rs1564341846
NM_001077365.2(POMT1):c.452G>C (p.Arg151Thr) rs398124246
NM_001077365.2(POMT1):c.459G>A (p.Met153Ile)
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser) rs182295674
NM_001077365.2(POMT1):c.501G>A (p.Val167=) rs757051194
NM_001077365.2(POMT1):c.516G>T (p.Lys172Asn)
NM_001077365.2(POMT1):c.538A>C (p.Ser180Arg)
NM_001077365.2(POMT1):c.539+104A>G rs28447664
NM_001077365.2(POMT1):c.539+19C>T rs376642449
NM_001077365.2(POMT1):c.539+3A>C rs780457748
NM_001077365.2(POMT1):c.539+3A>G rs780457748
NM_001077365.2(POMT1):c.539+91C>T rs11999204
NM_001077365.2(POMT1):c.545T>G (p.Phe182Cys)
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210
NM_001077365.2(POMT1):c.574_575del (p.Leu192fs) rs1554773974
NM_001077365.2(POMT1):c.579A>G (p.Thr193=)
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203
NM_001077365.2(POMT1):c.57T>C (p.Leu19=) rs886043325
NM_001077365.2(POMT1):c.585C>T (p.Val195=)
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900
NM_001077365.2(POMT1):c.592T>A (p.Ser198Thr) rs767056835
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982
NM_001077365.2(POMT1):c.599C>G (p.Ala200Gly) rs886043111
NM_001077365.2(POMT1):c.600A>G (p.Ala200=) rs755854450
NM_001077365.2(POMT1):c.605+1G>C rs766648827
NM_001077365.2(POMT1):c.606-12A>G rs1057523851
NM_001077365.2(POMT1):c.606-15G>C
NM_001077365.2(POMT1):c.606-9T>C rs760178838
NM_001077365.2(POMT1):c.606del (p.Ile203fs) rs1588375386
NM_001077365.2(POMT1):c.619G>T (p.Gly207Cys) rs1554774121
NM_001077365.2(POMT1):c.620G>A (p.Gly207Asp) rs765733801
NM_001077365.2(POMT1):c.629C>T (p.Thr210Met) rs377037072
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.634G>A (p.Val212Met) rs746119386
NM_001077365.2(POMT1):c.639C>T (p.Leu213=) rs267602149
NM_001077365.2(POMT1):c.640G>A (p.Val214Met)
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.672C>A (p.His224Gln) rs1315200279
NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro) rs1554774207
NM_001077365.2(POMT1):c.687G>C (p.Gln229His)
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400
NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser) rs139774354
NM_001077365.2(POMT1):c.699+14T>A rs370038491
NM_001077365.2(POMT1):c.699+18G>C rs886063537
NM_001077365.2(POMT1):c.699+19T>C rs763483567
NM_001077365.2(POMT1):c.699+1G>A rs1275810616
NM_001077365.2(POMT1):c.699+27G>A
NM_001077365.2(POMT1):c.699+32C>T
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+62del rs1356791510
NM_001077365.2(POMT1):c.699+64G>C
NM_001077365.2(POMT1):c.699+67G>A rs776061161
NM_001077365.2(POMT1):c.699+67del rs1588377489
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.699+86C>T
NM_001077365.2(POMT1):c.700-17C>T
NM_001077365.2(POMT1):c.700-28A>G rs187996836
NM_001077365.2(POMT1):c.700-48A>G rs2018621
NM_001077365.2(POMT1):c.700-7C>T rs1588380391
NM_001077365.2(POMT1):c.700G>A (p.Val234Ile)
NM_001077365.2(POMT1):c.721C>G (p.Leu241Val)
NM_001077365.2(POMT1):c.723C>T (p.Leu241=) rs765290860
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679
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.728G>C (p.Arg243Pro) rs772980661
NM_001077365.2(POMT1):c.729A>G (p.Arg243=)
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) rs772590277
NM_001077365.2(POMT1):c.774C>T (p.Phe258=) rs761217834
NM_001077365.2(POMT1):c.780C>T (p.Tyr260=)
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile) rs759734493
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763
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.816C>T (p.His272=) rs191404622
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn)
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) rs119462981
NM_001077365.2(POMT1):c.846C>T (p.Ala282=) rs886043307
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380
NM_001077365.2(POMT1):c.855+175G>A rs3780259
NM_001077365.2(POMT1):c.855+225A>G rs117287406
NM_001077365.2(POMT1):c.855+6T>C rs200692465
NM_001077365.2(POMT1):c.856-299T>A rs10901064
NM_001077365.2(POMT1):c.856-49T>G rs4740163
NM_001077365.2(POMT1):c.856-65G>A rs34159422
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.876= (p.Thr292=) rs10901065
NM_001077365.2(POMT1):c.876T>C (p.Thr292=) rs10901065
NM_001077365.2(POMT1):c.879G>T (p.Gln293His)
NM_001077365.2(POMT1):c.880G>T (p.Gly294Cys) rs145395372
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.927C>T (p.Asn309=) rs753694905
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) rs190112934
NM_001077365.2(POMT1):c.934G>A (p.Gly312Arg)
NM_001077365.2(POMT1):c.936G>T (p.Gly312=) rs797045897
NM_001077365.2(POMT1):c.937A>G (p.Lys313Glu) rs886042835
NM_001077365.2(POMT1):c.962_982del (p.Ser321_Met328delinsLeu)
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.978C>A (p.Tyr326Ter) rs1588391612
NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr)
NM_001077365.2(POMT1):c.986+184G>A rs10793881
NM_001077365.2(POMT1):c.986+246G>A rs3739492
NM_001077365.2(POMT1):c.986+279T>C rs3739493
NM_001077365.2(POMT1):c.986+49G>A rs10901066
NM_001077365.2(POMT1):c.986+5G>A rs370096853
NM_001077365.2(POMT1):c.986+9A>G rs202095070
NM_001077365.2(POMT1):c.987-113C>G rs10901068
NM_001077365.2(POMT1):c.987-173C>T rs10901067
NM_001077365.2(POMT1):c.987-2A>C rs1453773610
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689
NM_001135954.2(UCK1):c.*1373C>T
NM_007171.3(POMT1):c.-195C>T rs886063536
NM_007171.3(POMT1):c.-196G>T rs886063535
POMT1, ARG541TER
POMT1, GLN590HIS

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