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.182G>A (p.Arg61His)
|
rs145514333
|
0.00058
|
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)
|
rs119103251
|
0.00027
|
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser)
|
rs752622662
|
0.00010
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)
|
rs144081869
|
0.00006
|
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)
|
rs150911354
|
0.00004
|
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.1768+2T>G
|
rs747513238
|
0.00002
|
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)
|
rs1057517145
|
0.00002
|
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)
|
rs776680924
|
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.1092+1G>A
|
rs749560316
|
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.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)
|
rs119103259
|
0.00001
|
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg)
|
rs760654579
|
0.00001
|
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)
|
rs755117847
|
0.00001
|
NM_005609.4(PYGM):c.1093-1G>T
|
rs1163710370
|
|
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.1282C>T (p.Arg428Cys)
|
rs750700202
|
|
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup)
|
rs1555135069
|
|
NM_005609.4(PYGM):c.13_14del (p.Leu5fs)
|
rs772194378
|
|
NM_005609.4(PYGM):c.1463C>A (p.Thr488Asn)
|
rs1555134900
|
|
NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs)
|
rs1057516612
|
|
NM_005609.4(PYGM):c.152ACT[4] (p.Tyr53dup)
|
rs1325298827
|
|
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.1797del (p.Phe599fs)
|
rs769960481
|
|
NM_005609.4(PYGM):c.1827+1G>C
|
rs1057517442
|
|
NM_005609.4(PYGM):c.1969+1G>T
|
rs753181427
|
|
NM_005609.4(PYGM):c.1970-1G>A
|
rs1057516598
|
|
NM_005609.4(PYGM):c.198del (p.Arg67fs)
|
rs750857876
|
|
NM_005609.4(PYGM):c.1A>G (p.Met1Val)
|
rs267606993
|
|
NM_005609.4(PYGM):c.1A>T (p.Met1Leu)
|
rs267606993
|
|
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter)
|
rs1057516349
|
|
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)
|
rs527236147
|
|
NM_005609.4(PYGM):c.2136dup (p.Gly713fs)
|
rs1057517067
|
|
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.2231_2244del (p.Glu744fs)
|
rs1057517058
|
|
NM_005609.4(PYGM):c.2249TCT[1] (p.Phe751del)
|
rs758842259
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005609.4(PYGM):c.2312+3G>C
|
rs1555133430
|
|
NM_005609.4(PYGM):c.2319del (p.Val774fs)
|
rs1462767117
|
|
NM_005609.4(PYGM):c.2380-1G>A
|
rs1555133248
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs)
|
rs1057516329
|
|
NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg)
|
rs1400353740
|
|
NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu)
|
rs1057516529
|
|
NM_005609.4(PYGM):c.253del (p.Tyr85fs)
|
rs1057516629
|
|
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.370G>T (p.Glu124Ter)
|
rs1555136459
|
|
NM_005609.4(PYGM):c.407del (p.Gly136fs)
|
rs786204723
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
NM_005609.4(PYGM):c.425-2A>G
|
rs752851284
|
|
NM_005609.4(PYGM):c.445_448del (p.Ala149fs)
|
rs1057517400
|
|
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp)
|
rs1555136375
|
|
NM_005609.4(PYGM):c.528+2T>G
|
rs1057516468
|
|
NM_005609.4(PYGM):c.660+1G>A
|
rs1555136208
|
|
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del)
|
rs1555136828
|
|
NM_005609.4(PYGM):c.736T>C (p.Ser246Pro)
|
rs1555135785
|
|