NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)
|
rs200056620
|
0.00008
|
NM_001077365.2(POMT1):c.579_580del (p.Val195fs)
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rs1032439203
|
0.00006
|
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)
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rs794727208
|
0.00004
|
NM_001077365.2(POMT1):c.1196del (p.Leu399fs)
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rs768144522
|
0.00002
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
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rs398124244
|
0.00002
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NM_001077365.2(POMT1):c.1698+1G>A
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rs763586263
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0.00002
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NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)
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rs119462983
|
0.00002
|
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)
|
rs746696167
|
0.00002
|
NM_001077365.2(POMT1):c.1175+1G>A
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rs1051679985
|
0.00001
|
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)
|
rs1564364615
|
0.00001
|
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys)
|
rs1397478363
|
0.00001
|
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser)
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rs746849558
|
0.00001
|
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)
|
rs119462985
|
0.00001
|
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)
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rs761848742
|
0.00001
|
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)
|
rs119462987
|
0.00001
|
NM_001077365.2(POMT1):c.280+1G>T
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rs746823238
|
0.00001
|
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys)
|
rs1289335417
|
0.00001
|
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)
|
rs119462982
|
0.00001
|
NM_001077365.2(POMT1):c.605+1G>T
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rs766648827
|
0.00001
|
NM_001077365.2(POMT1):c.699+62del
|
rs1356791510
|
0.00001
|
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)
|
rs119462981
|
0.00001
|
NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter)
|
rs759848847
|
0.00001
|
NM_001077365.2(POMT1):c.986+1G>A
|
rs961071228
|
0.00001
|
NC_000009.11:g.(?_134385419)_(134386714_?)del
|
|
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NC_000009.11:g.(?_134389752)_(134390863_?)del
|
|
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NC_000009.11:g.(?_134390793)_(134398493_?)del
|
|
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NC_000009.11:g.(?_134398299)_(134398493_?)del
|
|
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NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)
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|
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NM_001077365.2(POMT1):c.1038del (p.Phe347fs)
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|
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NM_001077365.2(POMT1):c.1061G>A (p.Trp354Ter)
|
|
|
NM_001077365.2(POMT1):c.1091del (p.Leu364fs)
|
rs1947522752
|
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NM_001077365.2(POMT1):c.1136_1137dup (p.Gln380fs)
|
|
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NM_001077365.2(POMT1):c.1182dup (p.Val395fs)
|
|
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NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
|
|
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NM_001077365.2(POMT1):c.1204dup (p.His402fs)
|
rs2131749139
|
|
NM_001077365.2(POMT1):c.1211dup (p.Glu405fs)
|
|
|
NM_001077365.2(POMT1):c.1235dup (p.Tyr412Ter)
|
|
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NM_001077365.2(POMT1):c.1272+1G>A
|
rs2131751359
|
|
NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)
|
|
|
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)
|
rs1554780670
|
|
NM_001077365.2(POMT1):c.1364del (p.Lys455fs)
|
rs1472946513
|
|
NM_001077365.2(POMT1):c.1457G>A (p.Trp486Ter)
|
rs1191391104
|
|
NM_001077365.2(POMT1):c.1458G>A (p.Trp486Ter)
|
|
|
NM_001077365.2(POMT1):c.145del (p.Gln49fs)
|
|
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NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter)
|
rs727502854
|
|
NM_001077365.2(POMT1):c.1524dup (p.Pro509fs)
|
|
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NM_001077365.2(POMT1):c.160_161insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTACATCTCTTTTT (p.Tyr54delinsPhePhePhePhePheXaaXaaXaaXaaHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer)
|
rs2131588122
|
|
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
|
|
|
NM_001077365.2(POMT1):c.1657del (p.Leu553fs)
|
rs794727190
|
|
NM_001077365.2(POMT1):c.1667del (p.Asn556fs)
|
|
|
NM_001077365.2(POMT1):c.1671del (p.Ile557fs)
|
rs1949626483
|
|
NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter)
|
rs1945766589
|
|
NM_001077365.2(POMT1):c.1724_1725del (p.Ile575fs)
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|
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NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del)
|
rs750195040
|
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NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs)
|
rs1315540509
|
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NM_001077365.2(POMT1):c.1847_1865dup (p.Gly624fs)
|
|
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NM_001077365.2(POMT1):c.1871_1872del (p.Gly624fs)
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NM_001077365.2(POMT1):c.1917_1918del (p.Phe640fs)
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NM_001077365.2(POMT1):c.1951C>T (p.Gln651Ter)
|
|
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NM_001077365.2(POMT1):c.1977del (p.Gln660fs)
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|
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NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs)
|
rs1950265792
|
|
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)
|
rs138902646
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001077365.2(POMT1):c.2113_2119del (p.Ser705fs)
|
|
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NM_001077365.2(POMT1):c.2141G>A (p.Trp714Ter)
|
|
|
NM_001077365.2(POMT1):c.245del (p.Phe82fs)
|
|
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NM_001077365.2(POMT1):c.260dup (p.Leu87fs)
|
|
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NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter)
|
rs1945827957
|
|
NM_001077365.2(POMT1):c.270_280delAATTGGAGCAG (p.Gly92fs)
|
rs1222795311
|
|
NM_001077365.2(POMT1):c.291del (p.Ser97fs)
|
|
|
NM_001077365.2(POMT1):c.385del (p.Ser129fs)
|
|
|
NM_001077365.2(POMT1):c.427+1G>A
|
rs760071332
|
|
NM_001077365.2(POMT1):c.427+1_427+2insA
|
rs900762841
|
|
NM_001077365.2(POMT1):c.427G>A (p.Glu143Lys)
|
|
|
NM_001077365.2(POMT1):c.432del (p.Asn144fs)
|
|
|
NM_001077365.2(POMT1):c.485del (p.Phe162fs)
|
rs1250351189
|
|
NM_001077365.2(POMT1):c.529C>T (p.Gln177Ter)
|
|
|
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter)
|
rs772370177
|
|
NM_001077365.2(POMT1):c.559del (p.Trp187fs)
|
|
|
NM_001077365.2(POMT1):c.58dup (p.Val20fs)
|
rs2131554631
|
|
NM_001077365.2(POMT1):c.605+1G>C
|
rs766648827
|
|
NM_001077365.2(POMT1):c.606del (p.Ile203fs)
|
rs1588375386
|
|
NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter)
|
rs747129906
|
|
NM_001077365.2(POMT1):c.699+24C>A
|
|
|
NM_001077365.2(POMT1):c.720del (p.Leu240fs)
|
|
|
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)
|
rs398124247
|
|
NM_001077365.2(POMT1):c.72del (p.Met25fs)
|
rs2131554917
|
|
NM_001077365.2(POMT1):c.789_790del (p.Leu263fs)
|
|
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NM_001077365.2(POMT1):c.7G>T (p.Gly3Ter)
|
|
|
NM_001077365.2(POMT1):c.859_871del (p.Gly287fs)
|
rs2131672013
|
|
NM_001077365.2(POMT1):c.91del (p.Leu31fs)
|
|
|
NM_001077365.2(POMT1):c.93del (p.Trp32fs)
|
|
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NM_001077365.2(POMT1):c.972_973insCT (p.Thr325fs)
|
|
|
NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)
|
rs1588391612
|
|
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)
|
rs765230689
|
|