NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser)
|
rs201042910
|
0.00008
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)
|
rs144081869
|
0.00006
|
NM_005609.4(PYGM):c.2178-1G>A
|
rs143670942
|
0.00005
|
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)
|
rs398124209
|
0.00004
|
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)
|
rs150911354
|
0.00004
|
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)
|
rs1005687078
|
0.00003
|
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)
|
rs769172044
|
0.00003
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)
|
rs767739769
|
0.00003
|
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)
|
rs398124208
|
0.00002
|
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro)
|
rs761438921
|
0.00002
|
NM_005609.4(PYGM):c.1768+2T>G
|
rs747513238
|
0.00002
|
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)
|
rs750195683
|
0.00002
|
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg)
|
rs768604948
|
0.00002
|
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)
|
rs1057517145
|
0.00002
|
NM_005609.4(PYGM):c.345+2T>A
|
rs1219299972
|
0.00002
|
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)
|
rs200038732
|
0.00002
|
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)
|
rs780375860
|
0.00002
|
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)
|
rs1394188143
|
0.00001
|
NM_005609.4(PYGM):c.1092+1G>A
|
rs749560316
|
0.00001
|
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)
|
rs757681143
|
0.00001
|
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)
|
rs773204705
|
0.00001
|
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)
|
rs756251887
|
0.00001
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)
|
rs143550601
|
0.00001
|
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu)
|
rs1315020035
|
0.00001
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)
|
rs119103259
|
0.00001
|
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
|
rs119103253
|
0.00001
|
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)
|
rs1483102315
|
0.00001
|
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter)
|
rs1223885403
|
0.00001
|
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)
|
rs376581557
|
0.00001
|
NM_005609.4(PYGM):c.661-601G>A
|
rs1474863903
|
0.00001
|
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)
|
rs755117847
|
0.00001
|
NC_000011.10:g.(?_64746639)_(64747378_?)del
|
|
|
NC_000011.10:g.(?_64758236)_(64758714_?)del
|
|
|
NC_000011.9:g.(?_64513860)_(64514831_64517847)del
|
|
|
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
|
|
|
NM_005609.4(PYGM):c.1044del (p.Glu349fs)
|
rs1592412131
|
|
NM_005609.4(PYGM):c.1092+1G>C
|
rs749560316
|
|
NM_005609.4(PYGM):c.1093-1G>T
|
rs1163710370
|
|
NM_005609.4(PYGM):c.1093-2A>T
|
|
|
NM_005609.4(PYGM):c.110A>G (p.His37Arg)
|
rs1170598133
|
|
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)
|
rs2058377004
|
|
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr)
|
rs954192338
|
|
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val)
|
rs1465752595
|
|
NM_005609.4(PYGM):c.120_121insA (p.Val41fs)
|
|
|
NM_005609.4(PYGM):c.1239+1G>T
|
rs759657964
|
|
NM_005609.4(PYGM):c.1240-2A>G
|
rs1212333772
|
|
NM_005609.4(PYGM):c.125del (p.Lys42fs)
|
|
|
NM_005609.4(PYGM):c.1275dup (p.Leu426fs)
|
|
|
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs)
|
rs2058372554
|
|
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)
|
|
|
NM_005609.4(PYGM):c.1363G>C (p.Gly455Arg)
|
|
|
NM_005609.4(PYGM):c.1403+1dup
|
|
|
NM_005609.4(PYGM):c.1446_1447dup (p.Lys483fs)
|
|
|
NM_005609.4(PYGM):c.1466dup (p.Arg490fs)
|
rs886041476
|
|
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
|
|
|
NM_005609.4(PYGM):c.1469G>C (p.Arg490Pro)
|
|
|
NM_005609.4(PYGM):c.1507del (p.Val503fs)
|
rs1272600960
|
|
NM_005609.4(PYGM):c.1519-1G>A
|
rs2135831491
|
|
NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs)
|
rs1057516612
|
|
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly)
|
rs397514631
|
|
NM_005609.4(PYGM):c.1620+1G>A
|
rs1256894448
|
|
NM_005609.4(PYGM):c.1620+1G>T
|
|
|
NM_005609.4(PYGM):c.1636_1639del (p.Phe546fs)
|
|
|
NM_005609.4(PYGM):c.1680del (p.Asn561fs)
|
rs1057516259
|
|
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)
|
rs752848974
|
|
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter)
|
rs119103260
|
|
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del)
|
rs1592409633
|
|
NM_005609.4(PYGM):c.1742del (p.Cys581fs)
|
rs1592409631
|
|
NM_005609.4(PYGM):c.1769-1G>A
|
rs2058357329
|
|
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
|
|
|
NM_005609.4(PYGM):c.1797del (p.Phe599fs)
|
rs769960481
|
|
NM_005609.4(PYGM):c.1827+1G>C
|
rs1057517442
|
|
NM_005609.4(PYGM):c.1828-1G>A
|
|
|
NM_005609.4(PYGM):c.1828-1G>T
|
|
|
NM_005609.4(PYGM):c.1828-2A>G
|
rs2135829883
|
|
NM_005609.4(PYGM):c.194dup (p.Arg67fs)
|
|
|
NM_005609.4(PYGM):c.1969+1G>A
|
|
|
NM_005609.4(PYGM):c.1969+1G>C
|
|
|
NM_005609.4(PYGM):c.1969+1G>T
|
rs753181427
|
|
NM_005609.4(PYGM):c.1970-1G>A
|
rs1057516598
|
|
NM_005609.4(PYGM):c.1970-2A>C
|
|
|
NM_005609.4(PYGM):c.1979C>A (p.Ala660Asp)
|
|
|
NM_005609.4(PYGM):c.198del (p.Arg67fs)
|
rs750857876
|
|
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)
|
rs119103256
|
|
NM_005609.4(PYGM):c.1A>G (p.Met1Val)
|
rs267606993
|
|
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter)
|
rs1057516349
|
|
NM_005609.4(PYGM):c.2057G>A (p.Gly686Glu)
|
|
|
NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu)
|
rs773543072
|
|
NM_005609.4(PYGM):c.2083G>T (p.Gly695Trp)
|
|
|
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)
|
rs527236147
|
|
NM_005609.4(PYGM):c.2136dup (p.Gly713fs)
|
rs1057517067
|
|
NM_005609.4(PYGM):c.2177+1G>A
|
rs751875471
|
|
NM_005609.4(PYGM):c.2177+1G>T
|
|
|
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter)
|
rs1057517361
|
|
NM_005609.4(PYGM):c.219_220del (p.His74fs)
|
rs1555136752
|
|
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)
|
rs770037766
|
|
NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs)
|
rs1057517058
|
|
NM_005609.4(PYGM):c.2259dup (p.Lys754fs)
|
rs1565531453
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005609.4(PYGM):c.2274del (p.Phe759fs)
|
|
|
NM_005609.4(PYGM):c.2313-1G>A
|
|
|
NM_005609.4(PYGM):c.2319del (p.Val774fs)
|
rs1462767117
|
|
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)
|
rs1565531128
|
|
NM_005609.4(PYGM):c.2379+1G>A
|
|
|
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT
|
rs2135823216
|
|
NM_005609.4(PYGM):c.2380-1G>A
|
rs1555133248
|
|
NM_005609.4(PYGM):c.2380-2A>G
|
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.244-1G>A
|
rs2135840980
|
|
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
|
|
|
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs)
|
rs1057516329
|
|
NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu)
|
rs1057516529
|
|
NM_005609.4(PYGM):c.253del (p.Tyr85fs)
|
rs1057516629
|
|
NM_005609.4(PYGM):c.254_257del (p.Tyr85fs)
|
rs2135840945
|
|
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)
|
rs527236146
|
|
NM_005609.4(PYGM):c.262_263del (p.Leu88fs)
|
rs1555136540
|
|
NM_005609.4(PYGM):c.2T>C (p.Met1Thr)
|
rs2058423391
|
|
NM_005609.4(PYGM):c.370G>T (p.Glu124Ter)
|
rs1555136459
|
|
NM_005609.4(PYGM):c.395_408del (p.Leu132fs)
|
rs1565538121
|
|
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)
|
rs780246932
|
|
NM_005609.4(PYGM):c.407del (p.Gly136fs)
|
rs786204723
|
|
NM_005609.4(PYGM):c.415C>G (p.Arg139Gly)
|
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
NM_005609.4(PYGM):c.424+1G>A
|
|
|
NM_005609.4(PYGM):c.424+1G>T
|
|
|
NM_005609.4(PYGM):c.425-2A>G
|
rs752851284
|
|
NM_005609.4(PYGM):c.445_448del (p.Ala149fs)
|
rs1057517400
|
|
NM_005609.4(PYGM):c.470G>T (p.Gly157Val)
|
|
|
NM_005609.4(PYGM):c.472dup (p.Tyr158fs)
|
|
|
NM_005609.4(PYGM):c.501dup (p.Asn168Ter)
|
rs1555136390
|
|
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del)
|
rs764823441
|
|
NM_005609.4(PYGM):c.528+1G>A
|
rs1262967083
|
|
NM_005609.4(PYGM):c.528+1G>T
|
|
|
NM_005609.4(PYGM):c.528+2T>G
|
rs1057516468
|
|
NM_005609.4(PYGM):c.580del (p.Arg194fs)
|
|
|
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
|
|
|
NM_005609.4(PYGM):c.658_659del (p.Gln220fs)
|
rs766199191
|
|
NM_005609.4(PYGM):c.660+1G>A
|
rs1555136208
|
|
NM_005609.4(PYGM):c.677_681dup (p.Asp228fs)
|
|
|
NM_005609.4(PYGM):c.682del (p.Asp228fs)
|
rs2058388882
|
|
NM_005609.4(PYGM):c.735G>A (p.Trp245Ter)
|
|
|
NM_005609.4(PYGM):c.772+2T>A
|
|
|
NM_005609.4(PYGM):c.773-1G>C
|
rs2135836264
|
|
NM_005609.4(PYGM):c.839_843del (p.Leu280fs)
|
|
|
NM_005609.4(PYGM):c.855+1G>A
|
rs2135836123
|
|
NM_005609.4(PYGM):c.856-2A>C
|
rs1565536363
|
|
NM_005609.4(PYGM):c.889G>T (p.Glu297Ter)
|
|
|
NM_005609.4(PYGM):c.999+1G>A
|
|
|