NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)
|
rs139660235
|
0.00008
|
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)
|
rs757903559
|
0.00006
|
NM_001077365.2(POMT1):c.579_580del (p.Val195fs)
|
rs1032439203
|
0.00006
|
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)
|
rs149682171
|
0.00003
|
NM_001077365.2(POMT1):c.2004-1G>C
|
rs745738628
|
0.00003
|
NM_001077365.2(POMT1):c.1196del (p.Leu399fs)
|
rs768144522
|
0.00002
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001077365.2(POMT1):c.1698+1G>A
|
rs763586263
|
0.00002
|
NM_001077365.2(POMT1):c.2098G>A (p.Gly700Arg)
|
rs912556508
|
0.00002
|
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)
|
rs746696167
|
0.00002
|
NM_001077365.2(POMT1):c.1176-2A>G
|
rs746523421
|
0.00001
|
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys)
|
rs1397478363
|
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.697_699del (p.Asn233del)
|
rs761863400
|
0.00001
|
NM_001077365.2(POMT1):c.699+62del
|
rs1356791510
|
0.00001
|
NM_001077365.2(POMT1):c.699+67G>A
|
rs776061161
|
0.00001
|
NM_001077365.2(POMT1):c.699+68T>C
|
rs759254028
|
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.(?_134389752)_(134390863_?)del
|
|
|
NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)
|
|
|
NM_001077365.2(POMT1):c.101_102insTA (p.Tyr36fs)
|
|
|
NM_001077365.2(POMT1):c.103dup (p.Thr35fs)
|
|
|
NM_001077365.2(POMT1):c.1145del (p.Val382fs)
|
|
|
NM_001077365.2(POMT1):c.1175+2dup
|
rs886041907
|
|
NM_001077365.2(POMT1):c.1175+4_1175+7del
|
rs1588409344
|
|
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
|
|
|
NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter)
|
rs1554778005
|
|
NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys)
|
rs1948104184
|
|
NM_001077365.2(POMT1):c.1272+2T>C
|
rs1564365317
|
|
NM_001077365.2(POMT1):c.1272+2dup
|
|
|
NM_001077365.2(POMT1):c.1273-2A>G
|
|
|
NM_001077365.2(POMT1):c.1298_1299del (p.Thr433fs)
|
|
|
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)
|
rs1554780670
|
|
NM_001077365.2(POMT1):c.1390T>C (p.Trp464Arg)
|
|
|
NM_001077365.2(POMT1):c.1392G>C (p.Trp464Cys)
|
|
|
NM_001077365.2(POMT1):c.1436del (p.Gly479fs)
|
|
|
NM_001077365.2(POMT1):c.1550del (p.Asn517fs)
|
|
|
NM_001077365.2(POMT1):c.1585-2A>G
|
rs2131880195
|
|
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
|
|
|
NM_001077365.2(POMT1):c.1699-1G>A
|
rs1949874222
|
|
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)
|
rs119462986
|
|
NM_001077365.2(POMT1):c.1733G>A (p.Trp578Ter)
|
|
|
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del)
|
rs750195040
|
|
NM_001077365.2(POMT1):c.1758del (p.Ile587fs)
|
|
|
NM_001077365.2(POMT1):c.1781G>A (p.Trp594Ter)
|
|
|
NM_001077365.2(POMT1):c.1821_1822dup (p.Gln608fs)
|
|
|
NM_001077365.2(POMT1):c.1825+2T>C
|
|
|
NM_001077365.2(POMT1):c.1842_1860dup (p.Cys621fs)
|
|
|
NM_001077365.2(POMT1):c.1983_1987del (p.His661fs)
|
|
|
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs)
|
rs1950265792
|
|
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro)
|
rs776988725
|
|
NM_001077365.2(POMT1):c.2140del (p.Trp714fs)
|
|
|
NM_001077365.2(POMT1):c.2145_2156del (p.Lys715_Asp719delinsAsn)
|
rs1564395473
|
|
NM_001077365.2(POMT1):c.229+2T>C
|
rs1945782278
|
|
NM_001077365.2(POMT1):c.230-2A>G
|
|
|
NM_001077365.2(POMT1):c.314G>A (p.Arg105His)
|
rs1554772469
|
|
NM_001077365.2(POMT1):c.389_407del (p.His130fs)
|
|
|
NM_001077365.2(POMT1):c.389del (p.His130fs)
|
|
|
NM_001077365.2(POMT1):c.427+1_427+2insA
|
rs900762841
|
|
NM_001077365.2(POMT1):c.428-2A>G
|
rs1554773448
|
|
NM_001077365.2(POMT1):c.485del (p.Phe162fs)
|
rs1250351189
|
|
NM_001077365.2(POMT1):c.514_518delinsTCCTAC (p.Lys172fs)
|
|
|
NM_001077365.2(POMT1):c.539+2T>C
|
|
|
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter)
|
rs772370177
|
|
NM_001077365.2(POMT1):c.583del (p.Val195fs)
|
|
|
NM_001077365.2(POMT1):c.605+1G>C
|
rs766648827
|
|
NM_001077365.2(POMT1):c.669G>A (p.Trp223Ter)
|
|
|
NM_001077365.2(POMT1):c.699+14_699+17dup
|
|
|
NM_001077365.2(POMT1):c.699+24C>A
|
|
|
NM_001077365.2(POMT1):c.699+67G>T
|
rs776061161
|
|
NM_001077365.2(POMT1):c.699+67dup
|
|
|
NM_001077365.2(POMT1):c.773TCT[1] (p.Phe259del)
|
|
|
NM_001077365.2(POMT1):c.856-2A>G
|
|
|
NM_001077365.2(POMT1):c.987-2A>C
|
rs1453773610
|
|
NM_001077365.2(POMT1):c.987-2A>G
|
|
|
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)
|
rs765230689
|
|
NM_001077365.2(POMT1):c.[2101dup];[512T>G]
|
|
|