NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
NM_000293.3(PHKB):c.1127-2A>G
|
rs535749057
|
0.00012
|
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser)
|
rs201042910
|
0.00008
|
NM_000343.4(SLC5A1):c.1370A>G (p.Gln457Arg)
|
rs200401846
|
0.00007
|
NM_000528.4(MAN2B1):c.2046+2T>A
|
rs748712495
|
0.00007
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln)
|
rs374687883
|
0.00006
|
NM_000158.4(GBE1):c.555+1G>T
|
rs759707498
|
0.00006
|
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln)
|
rs780634117
|
0.00006
|
NM_002103.5(GYS1):c.678+1G>A
|
rs755305465
|
0.00006
|
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser)
|
rs121918423
|
0.00006
|
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly)
|
rs201101343
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_005609.4(PYGM):c.2178-1G>A
|
rs143670942
|
0.00005
|
NM_000035.4(ALDOB):c.379+1G>T
|
rs138121153
|
0.00004
|
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)
|
rs776814144
|
0.00004
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
NM_000262.3(NAGA):c.324+1G>A
|
rs140673721
|
0.00004
|
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro)
|
rs1246249632
|
0.00004
|
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)
|
rs992677795
|
0.00004
|
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)
|
rs373240866
|
0.00004
|
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu)
|
rs760187622
|
0.00004
|
NM_005908.4(MANBA):c.1318-1G>T
|
rs374545788
|
0.00004
|
NM_000108.5(DLD):c.1081A>G (p.Met361Val)
|
rs121964993
|
0.00003
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys)
|
rs367543262
|
0.00003
|
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)
|
rs755832705
|
0.00003
|
NM_000512.5(GALNS):c.269G>A (p.Arg90Gln)
|
rs754731091
|
0.00003
|
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys)
|
rs370760999
|
0.00003
|
NM_000528.4(MAN2B1):c.2664+1G>A
|
rs771953225
|
0.00003
|
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)
|
rs137853859
|
0.00003
|
NM_001931.5(DLAT):c.976-1G>A
|
rs367875541
|
0.00003
|
NM_002076.4(GNS):c.1308+2T>C
|
rs750645480
|
0.00003
|
NM_002103.5(GYS1):c.119-2_120del
|
rs1422043936
|
0.00003
|
NM_002637.4(PHKA1):c.2606+1G>A
|
rs373517016
|
0.00003
|
NM_002863.5(PYGL):c.772+1G>A
|
rs776545903
|
0.00003
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
NM_006859.4(LIAS):c.737+1G>A
|
rs546751789
|
0.00003
|
NM_000035.4(ALDOB):c.800-2A>C
|
rs199965465
|
0.00002
|
NM_000046.5(ARSB):c.305G>A (p.Arg102His)
|
rs759356342
|
0.00002
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
NM_000152.5(GAA):c.460C>T (p.Arg154Cys)
|
rs539841659
|
0.00002
|
NM_000152.5(GAA):c.858G>A (p.Thr286=)
|
rs201056962
|
0.00002
|
NM_000155.4(GALT):c.688-2A>C
|
rs398123185
|
0.00002
|
NM_000199.5(SGSH):c.301T>C (p.Phe101Leu)
|
rs1322090067
|
0.00002
|
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu)
|
rs104894642
|
0.00002
|
NM_000203.5(IDUA):c.1829-1G>A
|
rs745915863
|
0.00002
|
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)
|
rs751203469
|
0.00002
|
NM_000308.4(CTSA):c.1318T>G (p.Phe440Val)
|
rs137854540
|
0.00002
|
NM_000404.4(GLB1):c.451G>A (p.Asp151Asn)
|
rs375582374
|
0.00002
|
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala)
|
rs779023917
|
0.00002
|
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)
|
rs749891007
|
0.00002
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
0.00002
|
NM_000528.4(MAN2B1):c.1929-1G>T
|
rs763100457
|
0.00002
|
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)
|
rs864621993
|
0.00002
|
NM_001008216.2(GALE):c.905G>A (p.Gly302Asp)
|
rs137853861
|
0.00002
|
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)
|
rs80356492
|
0.00002
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_003384.3(VRK1):c.216+1G>C
|
rs774518440
|
0.00002
|
NM_004130.4(GYG1):c.7+1G>A
|
rs949456055
|
0.00002
|
NM_005609.4(PYGM):c.345+2T>A
|
rs1219299972
|
0.00002
|
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)
|
rs780375860
|
0.00002
|
NM_005908.4(MANBA):c.378+1G>A
|
rs142029636
|
0.00002
|
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp)
|
rs374377679
|
0.00002
|
NM_005908.4(MANBA):c.550-1G>A
|
rs760404534
|
0.00002
|
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser)
|
rs780082503
|
0.00002
|
NM_000027.4(AGA):c.301G>A (p.Ala101Thr)
|
rs752914246
|
0.00001
|
NM_000027.4(AGA):c.508-2A>G
|
rs986682657
|
0.00001
|
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)
|
rs1270747182
|
0.00001
|
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr)
|
rs1247117898
|
0.00001
|
NM_000046.5(ARSB):c.275C>T (p.Thr92Met)
|
rs751010538
|
0.00001
|
NM_000046.5(ARSB):c.628T>C (p.Tyr210His)
|
rs769313336
|
0.00001
|
NM_000046.5(ARSB):c.691-1G>A
|
rs778868348
|
0.00001
|
NM_000046.5(ARSB):c.934T>C (p.Trp312Arg)
|
rs398123124
|
0.00001
|
NM_000108.5(DLD):c.684+1G>T
|
rs780025714
|
0.00001
|
NM_000108.5(DLD):c.875+1G>A
|
rs1328820332
|
0.00001
|
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg)
|
rs80358199
|
0.00001
|
NM_000151.4(G6PC1):c.356A>G (p.His119Arg)
|
rs1401928680
|
0.00001
|
NM_000151.4(G6PC1):c.532C>T (p.Pro178Ser)
|
rs763543607
|
0.00001
|
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala)
|
rs515726229
|
0.00001
|
NM_000151.4(G6PC1):c.808G>C (p.Gly270Arg)
|
rs1272803483
|
0.00001
|
NM_000151.4(G6PC1):c.884G>A (p.Arg295His)
|
rs375212414
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
|
rs892129065
|
0.00001
|
NM_000152.5(GAA):c.1585T>G (p.Ser529Ala)
|
rs1598582021
|
0.00001
|
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys)
|
rs747373179
|
0.00001
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
|
rs941181575
|
0.00001
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
|
rs915675670
|
0.00001
|
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
|
rs772607616
|
0.00001
|
NM_000152.5(GAA):c.952A>T (p.Met318Leu)
|
rs886044506
|
0.00001
|
NM_000154.2(GALK1):c.166-1G>C
|
rs142772020
|
0.00001
|
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys)
|
rs1363497653
|
0.00001
|
NM_000155.4(GALT):c.142C>T (p.Arg48Cys)
|
rs886042088
|
0.00001
|
NM_000155.4(GALT):c.590A>G (p.Asp197Gly)
|
rs1554709359
|
0.00001
|
NM_000155.4(GALT):c.983G>A (p.Arg328His)
|
rs111033802
|
0.00001
|
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys)
|
rs780431086
|
0.00001
|
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu)
|
rs777589783
|
0.00001
|
NM_000158.4(GBE1):c.1803+2T>C
|
rs539203557
|
0.00001
|
NM_000158.4(GBE1):c.2052+2T>C
|
rs375596642
|
0.00001
|
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)
|
rs137852887
|
0.00001
|
NM_000158.4(GBE1):c.993-1G>T
|
rs763016962
|
0.00001
|
NM_000181.4(GUSB):c.1145G>A (p.Arg382His)
|
rs764018631
|
0.00001
|
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)
|
rs121918184
|
0.00001
|
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr)
|
rs1329133410
|
0.00001
|
NM_000199.5(SGSH):c.975G>T (p.Trp325Cys)
|
rs201413321
|
0.00001
|
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)
|
rs750496798
|
0.00001
|
NM_000203.5(IDUA):c.1190-2A>T
|
rs994902207
|
0.00001
|
NM_000203.5(IDUA):c.1524+1G>A
|
rs1553917483
|
0.00001
|
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)
|
rs200448421
|
0.00001
|
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)
|
rs780165694
|
0.00001
|
NM_000203.5(IDUA):c.535A>G (p.Thr179Ala)
|
rs766030255
|
0.00001
|
NM_000203.5(IDUA):c.539G>C (p.Trp180Ser)
|
rs1044231895
|
0.00001
|
NM_000203.5(IDUA):c.589+1G>A
|
rs1293215555
|
0.00001
|
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)
|
rs796052122
|
0.00001
|
NM_000263.4(NAGLU):c.154G>A (p.Val52Met)
|
rs794726880
|
0.00001
|
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
|
rs527236038
|
0.00001
|
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
|
rs752527478
|
0.00001
|
NM_000263.4(NAGLU):c.418T>A (p.Tyr140Asn)
|
rs2092909557
|
0.00001
|
NM_000263.4(NAGLU):c.701G>A (p.Arg234His)
|
rs886042073
|
0.00001
|
NM_000289.6(PFKM):c.1191+1G>A
|
rs746348793
|
0.00001
|
NM_000289.6(PFKM):c.1413-2A>G
|
rs1430517061
|
0.00001
|
NM_000289.6(PFKM):c.1500+1G>A
|
rs770066278
|
0.00001
|
NM_000289.6(PFKM):c.936+1G>A
|
rs1949974650
|
0.00001
|
NM_000292.3(PHKA2):c.557G>A (p.Arg186His)
|
rs137852290
|
0.00001
|
NM_000293.3(PHKB):c.306-2A>G
|
rs797044442
|
0.00001
|
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys)
|
rs752961445
|
0.00001
|
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn)
|
rs767427889
|
0.00001
|
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg)
|
rs137854541
|
0.00001
|
NM_000308.4(CTSA):c.869+1G>C
|
rs1987148852
|
0.00001
|
NM_000340.2(SLC2A2):c.775+1G>A
|
rs756874949
|
0.00001
|
NM_000404.4(GLB1):c.161G>A (p.Ser54Asn)
|
rs143423935
|
0.00001
|
NM_000404.4(GLB1):c.380G>T (p.Cys127Phe)
|
rs1699791081
|
0.00001
|
NM_000404.4(GLB1):c.517C>G (p.Leu173Val)
|
rs1303774639
|
0.00001
|
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys)
|
rs371546950
|
0.00001
|
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser)
|
rs1303492021
|
0.00001
|
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)
|
rs398123434
|
0.00001
|
NM_000512.5(GALNS):c.184A>T (p.Met62Leu)
|
rs1367462378
|
0.00001
|
NM_000512.5(GALNS):c.338T>C (p.Ile113Thr)
|
rs979373729
|
0.00001
|
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly)
|
rs1427663367
|
0.00001
|
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)
|
rs772413313
|
0.00001
|
NM_000512.5(GALNS):c.638C>T (p.Ala213Val)
|
rs770239604
|
0.00001
|
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser)
|
rs764070268
|
0.00001
|
NM_000528.4(MAN2B1):c.1420-1G>A
|
rs752229880
|
0.00001
|
NM_000528.4(MAN2B1):c.1528-1G>A
|
rs561991886
|
0.00001
|
NM_000528.4(MAN2B1):c.2267+1G>A
|
rs1022927322
|
0.00001
|
NM_000528.4(MAN2B1):c.2436+2T>C
|
rs398123457
|
0.00001
|
NM_000528.4(MAN2B1):c.2820+1G>A
|
rs768734132
|
0.00001
|
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)
|
rs746808159
|
0.00001
|
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly)
|
rs764236940
|
0.00001
|
NM_000642.3(AGL):c.2309-2A>G
|
rs1253347170
|
0.00001
|
NM_001008216.2(GALE):c.796-1G>T
|
rs779828095
|
0.00001
|
NM_001040716.2(PC):c.1368+1G>T
|
rs755640269
|
0.00001
|
NM_001040716.2(PC):c.633+2T>C
|
rs763433647
|
0.00001
|
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)
|
rs193302880
|
0.00001
|
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)
|
rs1466111134
|
0.00001
|
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)
|
rs1557229854
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro)
|
rs397514406
|
0.00001
|
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)
|
rs397514410
|
0.00001
|
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)
|
rs749460715
|
0.00001
|
NM_001370658.1(BTD):c.249+1G>T
|
rs373249212
|
0.00001
|
NM_001370658.1(BTD):c.265G>C (p.Val89Leu)
|
rs372416959
|
0.00001
|
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)
|
rs397514359
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_002103.5(GYS1):c.1170-2A>G
|
rs1219432457
|
0.00001
|
NM_002637.4(PHKA1):c.2527-1G>T
|
rs1556257317
|
0.00001
|
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)
|
rs749922511
|
0.00001
|
NM_003384.3(VRK1):c.889+1G>T
|
rs1482696609
|
0.00001
|
NM_004130.4(GYG1):c.481+2T>C
|
rs1173594490
|
0.00001
|
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.1723A>G (p.Lys575Glu)
|
rs1315020035
|
0.00001
|
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
|
rs119103253
|
0.00001
|
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)
|
rs376581557
|
0.00001
|
NM_005908.4(MANBA):c.2352_2356del (p.Thr785fs)
|
rs1341763493
|
0.00001
|
NM_006859.4(LIAS):c.954+1G>A
|
rs965952835
|
0.00001
|
NM_012434.5(SLC17A5):c.1109_1111+2del
|
rs1767805645
|
0.00001
|
NM_012434.5(SLC17A5):c.1111+1G>A
|
rs777862172
|
0.00001
|
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)
|
rs769235753
|
0.00001
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)
|
rs587779410
|
0.00001
|
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)
|
rs797045567
|
0.00001
|
NM_021957.4(GYS2):c.1229+1G>A
|
rs764539267
|
0.00001
|
NM_024989.4(PGAP1):c.2286+1G>A
|
rs1406991265
|
0.00001
|
NM_031229.4(RBCK1):c.1160A>G (p.Asn387Ser)
|
rs566912235
|
0.00001
|
NM_152419.3(HGSNAT):c.1129-2A>T
|
rs749568919
|
0.00001
|
NM_152419.3(HGSNAT):c.118+1G>A
|
rs1324229618
|
0.00001
|
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)
|
rs121908284
|
0.00001
|
NC_000001.10:g.(?_100335936)_(100336445_?)del
|
|
|
NC_000001.10:g.(?_24186268)_(24186413_?)dup
|
|
|
NC_000001.11:g.(?_99921514)_(99921671_?)del
|
|
|
NC_000001.11:g.(?_99921524)_(99921661_?)del
|
|
|
NC_000003.11:g.(?_81640178)_(81643184_?)dup
|
|
|
NC_000003.12:g.(?_81490387)_(81705633_?)del
|
|
|
NC_000003.12:g.(?_81490397)_(81490473_?)del
|
|
|
NC_000004.11:g.(?_103635575)_(103635738_?)dup
|
|
|
NC_000005.9:g.(?_78135159)_(78135269_?)dup
|
|
|
NC_000005.9:g.(?_78181397)_(78181660_?)dup
|
|
|
NC_000006.11:g.(?_74310064)_(74310174_?)dup
|
|
|
NC_000006.12:g.(?_73610390)_(73615457_?)dup
|
|
|
NC_000008.10:g.(?_43028846)_(43028896_?)dup
|
|
|
NC_000009.11:g.(?_104184081)_(104184196_?)del
|
|
|
NC_000011.10:g.(?_64746639)_(64747378_?)del
|
|
|
NC_000011.10:g.(?_64758236)_(64758714_?)del
|
|
|
NC_000012.11:g.(?_65133151)_(65146547_?)dup
|
|
|
NC_000016.9:g.(?_47531290)_(47549532_?)dup
|
|
|
NC_000016.9:g.(?_47614186)_(47644851_?)dup
|
|
|
NC_000016.9:g.(?_47621559)_(47630462_?)dup
|
|
|
NC_000016.9:g.(?_47644717)_(47644851_?)dup
|
|
|
NC_000016.9:g.(?_87935498)_(87938530_?)dup
|
|
|
NC_000016.9:g.(?_88884395)_(88884552_?)del
|
|
|
NC_000016.9:g.(?_88893090)_(88904193_?)del
|
|
|
NC_000017.10:g.(?_40690337)_(40690793_?)dup
|
|
|
NC_000017.10:g.(?_41061310)_(41061445_?)dup
|
|
|
NC_000017.11:g.(?_80107537)_(80113386_?)del
|
|
|
NC_000019.9:g.(?_12760707)_(12763294_?)dup
|
|
|
NC_000019.9:g.(?_12760717)_(12761046_?)dup
|
|
|
NC_000021.8:g.(?_38126547)_(38139606_?)del
|
|
|
NC_000023.10:g.(?_119589192)_(119589445_?)dup
|
|
|
NM_000027.4(AGA):c.127+1G>A
|
rs1057516565
|
|
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)
|
rs121964907
|
|
NM_000027.4(AGA):c.281+1G>T
|
rs1553994812
|
|
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)
|
rs386833423
|
|
NM_000027.4(AGA):c.698+1G>A
|
rs1057517175
|
|
NM_000027.4(AGA):c.698+2T>C
|
rs2111013260
|
|
NM_000027.4(AGA):c.807-1G>A
|
|
|
NM_000027.4(AGA):c.904G>C (p.Gly302Arg)
|
|
|
NM_000035.4(ALDOB):c.1007_1008delinsT (p.Cys336fs)
|
rs1831052831
|
|
NM_000035.4(ALDOB):c.113-1G>A
|
rs748663340
|
|
NM_000035.4(ALDOB):c.113-1G>C
|
rs748663340
|
|
NM_000035.4(ALDOB):c.113-2A>G
|
|
|
NM_000035.4(ALDOB):c.1A>G (p.Met1Val)
|
|
|
NM_000035.4(ALDOB):c.1A>T (p.Met1Leu)
|
|
|
NM_000035.4(ALDOB):c.2T>G (p.Met1Arg)
|
|
|
NM_000035.4(ALDOB):c.379+1G>A
|
rs138121153
|
|
NM_000035.4(ALDOB):c.380-2A>G
|
rs1300461861
|
|
NM_000035.4(ALDOB):c.541-277_651del
|
|
|
NM_000035.4(ALDOB):c.624+1G>C
|
|
|
NM_000035.4(ALDOB):c.799+1G>A
|
|
|
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe)
|
rs756671977
|
|
NM_000046.5(ARSB):c.1140_1142+2del
|
rs1747980506
|
|
NM_000046.5(ARSB):c.1214-1G>A
|
|
|
NM_000046.5(ARSB):c.1214-2A>T
|
rs1554069808
|
|
NM_000046.5(ARSB):c.1289A>G (p.His430Arg)
|
rs1171277553
|
|
NM_000046.5(ARSB):c.1438dup (p.Asp480fs)
|
rs1167459660
|
|
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu)
|
rs906245021
|
|
NM_000046.5(ARSB):c.1451G>C (p.Arg484Thr)
|
|
|
NM_000046.5(ARSB):c.1458C>A (p.Asp486Glu)
|
|
|
NM_000046.5(ARSB):c.158A>G (p.Asp53Gly)
|
rs2112582627
|
|
NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser)
|
rs1554069655
|
|
NM_000046.5(ARSB):c.161A>C (p.Asp54Ala)
|
rs1378501017
|
|
NM_000046.5(ARSB):c.166G>A (p.Gly56Ser)
|
|
|
NM_000046.5(ARSB):c.166G>C (p.Gly56Arg)
|
|
|
NM_000046.5(ARSB):c.206C>T (p.Thr69Met)
|
rs1554032175
|
|
NM_000046.5(ARSB):c.244C>G (p.Leu82Val)
|
|
|
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)
|
|
|
NM_000046.5(ARSB):c.283C>T (p.Arg95Trp)
|
rs1201268402
|
|
NM_000046.5(ARSB):c.284G>T (p.Arg95Leu)
|
rs118203942
|
|
NM_000046.5(ARSB):c.304C>A (p.Arg102Ser)
|
|
|
NM_000046.5(ARSB):c.323G>A (p.Gly108Asp)
|
|
|
NM_000046.5(ARSB):c.350G>A (p.Cys117Tyr)
|
|
|
NM_000046.5(ARSB):c.441C>G (p.His147Gln)
|
rs1752333074
|
|
NM_000046.5(ARSB):c.478C>G (p.Arg160Gly)
|
|
|
NM_000046.5(ARSB):c.499+2T>A
|
|
|
NM_000046.5(ARSB):c.534T>G (p.His178Gln)
|
|
|
NM_000046.5(ARSB):c.690+2T>G
|
|
|
NM_000046.5(ARSB):c.797A>G (p.Tyr266Cys)
|
|
|
NM_000046.5(ARSB):c.887T>A (p.Ile296Asn)
|
rs1554086368
|
|
NM_000046.5(ARSB):c.898+1G>A
|
rs1751669303
|
|
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp)
|
rs1402584432
|
|
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys)
|
rs759384989
|
|
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro)
|
rs727503809
|
|
NM_000046.5(ARSB):c.962T>A (p.Leu321Gln)
|
|
|
NM_000108.5(DLD):c.119-1G>A
|
rs2116206966
|
|
NM_000108.5(DLD):c.1463del (p.Pro488fs)
|
rs1554400720
|
|
NM_000108.5(DLD):c.198+1G>T
|
|
|
NM_000108.5(DLD):c.337+1G>T
|
|
|
NM_000108.5(DLD):c.338-1G>A
|
|
|
NM_000108.5(DLD):c.338-2A>G
|
|
|
NM_000108.5(DLD):c.39+1G>A
|
rs111257462
|
|
NM_000108.5(DLD):c.40-2A>G
|
|
|
NM_000108.5(DLD):c.439-2A>G
|
|
|
NM_000108.5(DLD):c.582+2T>C
|
|
|
NM_000108.5(DLD):c.583-1G>C
|
rs2032004082
|
|
NM_000108.5(DLD):c.875+1G>T
|
rs1328820332
|
|
NM_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr)
|
|
|
NM_000147.5(FUCA1):c.1261-1G>A
|
|
|
NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu)
|
|
|
NM_000147.5(FUCA1):c.662_662+8del
|
rs766794815
|
|
NM_000147.5(FUCA1):c.768+1G>A
|
rs1639468949
|
|
NM_000147.5(FUCA1):c.768+1G>T
|
|
|
NM_000147.5(FUCA1):c.769-2A>C
|
|
|
NM_000151.4(G6PC1):c.1007C>A (p.Ala336Glu)
|
rs2056095097
|
|
NM_000151.4(G6PC1):c.14T>A (p.Met5Lys)
|
|
|
NM_000151.4(G6PC1):c.15G>A (p.Met5Ile)
|
|
|
NM_000151.4(G6PC1):c.15G>C (p.Met5Ile)
|
|
|
NM_000151.4(G6PC1):c.15G>T (p.Met5Ile)
|
|
|
NM_000151.4(G6PC1):c.202G>A (p.Gly68Arg)
|
rs1567702819
|
|
NM_000151.4(G6PC1):c.239T>C (p.Phe80Ser)
|
|
|
NM_000151.4(G6PC1):c.362T>C (p.Met121Thr)
|
|
|
NM_000151.4(G6PC1):c.365G>T (p.Gly122Val)
|
rs759982943
|
|
NM_000151.4(G6PC1):c.446+1G>C
|
rs1597989983
|
|
NM_000151.4(G6PC1):c.446+2T>C
|
rs1597989985
|
|
NM_000151.4(G6PC1):c.447-1G>C
|
|
|
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala)
|
rs104894571
|
|
NM_000151.4(G6PC1):c.563-3C>G
|
rs1597991608
|
|
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro)
|
rs1555560128
|
|
NM_000151.4(G6PC1):c.706T>G (p.Trp236Gly)
|
|
|
NM_000151.4(G6PC1):c.764C>A (p.Thr255Asn)
|
|
|
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile)
|
rs2056092654
|
|
NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)
|
rs1555560149
|
|
NM_000151.4(G6PC1):c.809G>A (p.Gly270Asp)
|
|
|
NM_000151.4(G6PC1):c.820G>A (p.Ala274Thr)
|
rs764084156
|
|
NM_000151.4(G6PC1):c.964T>C (p.Phe322Leu)
|
|
|
NM_000151.4(G6PC1):c.966C>A (p.Phe322Leu)
|
|
|
NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC
|
|
|
NM_000152.5(GAA):c.1003G>T (p.Gly335Trp)
|
rs202095215
|
|
NM_000152.5(GAA):c.1075+2T>A
|
rs2143853890
|
|
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)
|
rs368244038
|
|
NM_000152.5(GAA):c.1114C>T (p.His372Tyr)
|
rs1555600070
|
|
NM_000152.5(GAA):c.1123C>A (p.Arg375Ser)
|
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
NM_000152.5(GAA):c.1195-2A>C
|
rs765360653
|
|
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)
|
rs1555600179
|
|
NM_000152.5(GAA):c.1220A>G (p.Tyr407Cys)
|
|
|
NM_000152.5(GAA):c.1223T>C (p.Met408Thr)
|
|
|
NM_000152.5(GAA):c.1309C>A (p.Arg437Ser)
|
|
|
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del)
|
rs1555600235
|
|
NM_000152.5(GAA):c.1369C>T (p.Pro457Ser)
|
|
|
NM_000152.5(GAA):c.1376A>T (p.Asp459Val)
|
rs2143866303
|
|
NM_000152.5(GAA):c.1396G>T (p.Val466Phe)
|
|
|
NM_000152.5(GAA):c.1400T>C (p.Phe467Ser)
|
|
|
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)
|
rs748893499
|
|
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
|
|
|
NM_000152.5(GAA):c.1456G>T (p.Ala486Ser)
|
|
|
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu)
|
rs2143872219
|
|
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser)
|
|
|
NM_000152.5(GAA):c.1565C>T (p.Pro522Leu)
|
rs2143874287
|
|
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala)
|
rs794727016
|
|
NM_000152.5(GAA):c.1583G>T (p.Gly528Val)
|
|
|
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser)
|
rs2143875175
|
|
NM_000152.5(GAA):c.1636+1G>A
|
|
|
NM_000152.5(GAA):c.1646G>A (p.Gly549Glu)
|
|
|
NM_000152.5(GAA):c.1654C>T (p.Leu552Phe)
|
|
|
NM_000152.5(GAA):c.1697C>T (p.Ser566Phe)
|
|
|
NM_000152.5(GAA):c.1709A>G (p.Asn570Ser)
|
|
|
NM_000152.5(GAA):c.1714C>T (p.His572Tyr)
|
|
|
NM_000152.5(GAA):c.1754+1_1754+7del
|
rs2039250790
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)
|
rs775450536
|
|
NM_000152.5(GAA):c.1798C>G (p.Arg600Gly)
|
rs764670084
|
|
NM_000152.5(GAA):c.1819G>T (p.Gly607Cys)
|
|
|
NM_000152.5(GAA):c.1846G>T (p.Asp616Tyr)
|
|
|
NM_000152.5(GAA):c.1848C>A (p.Asp616Glu)
|
|
|
NM_000152.5(GAA):c.1855A>G (p.Ser619Gly)
|
|
|
NM_000152.5(GAA):c.1888+1G>A
|
rs776325453
|
|
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)
|
rs2143891559
|
|
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp)
|
rs28937909
|
|
NM_000152.5(GAA):c.1928G>C (p.Gly643Ala)
|
|
|
NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr)
|
|
|
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe)
|
rs1265892085
|
|
NM_000152.5(GAA):c.1942G>T (p.Gly648Cys)
|
|
|
NM_000152.5(GAA):c.1943G>T (p.Gly648Val)
|
rs1448515860
|
|
NM_000152.5(GAA):c.1978C>G (p.Arg660Gly)
|
|
|
NM_000152.5(GAA):c.2014C>G (p.Arg672Gly)
|
|
|
NM_000152.5(GAA):c.2131A>C (p.Thr711Pro)
|
rs2143896492
|
|
NM_000152.5(GAA):c.2131A>G (p.Thr711Ala)
|
rs2143896492
|
|
NM_000152.5(GAA):c.2131A>T (p.Thr711Ser)
|
|
|
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg)
|
rs1555601773
|
|
NM_000152.5(GAA):c.2174G>T (p.Arg725Leu)
|
|
|
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)
|
rs1567838823
|
|
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu)
|
rs752921215
|
|
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
|
rs1292367136
|
|
NM_000152.5(GAA):c.2296T>C (p.Tyr766His)
|
|
|
NM_000152.5(GAA):c.2332-1G>C
|
rs1555602832
|
|
NM_000152.5(GAA):c.2332-2A>G
|
rs112098197
|
|
NM_000152.5(GAA):c.2481+1G>A
|
|
|
NM_000152.5(GAA):c.2482-1G>T
|
|
|
NM_000152.5(GAA):c.2563G>C (p.Gly855Arg)
|
|
|
NM_000152.5(GAA):c.2647-2A>G
|
|
|
NM_000152.5(GAA):c.265C>A (p.Arg89Ser)
|
|
|
NM_000152.5(GAA):c.266G>T (p.Arg89Leu)
|
|
|
NM_000152.5(GAA):c.2782T>C (p.Tyr928His)
|
rs2143934702
|
|
NM_000152.5(GAA):c.308G>A (p.Cys103Tyr)
|
rs2143827215
|
|
NM_000152.5(GAA):c.316C>G (p.Arg106Gly)
|
rs915675670
|
|
NM_000152.5(GAA):c.546+2T>C
|
|
|
NM_000152.5(GAA):c.546+2_546+5del
|
rs1181354869
|
|
NM_000152.5(GAA):c.569G>T (p.Arg190Leu)
|
rs528367092
|
|
NM_000152.5(GAA):c.656G>A (p.Gly219Glu)
|
|
|
NM_000152.5(GAA):c.671G>T (p.Arg224Leu)
|
|
|
NM_000152.5(GAA):c.693-1G>C
|
rs2143845687
|
|
NM_000152.5(GAA):c.693-2A>C
|
|
|
NM_000152.5(GAA):c.700A>G (p.Thr234Ala)
|
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
NM_000152.5(GAA):c.732G>C (p.Gln244His)
|
rs1178922366
|
|
NM_000152.5(GAA):c.797C>T (p.Pro266Leu)
|
rs1567828977
|
|
NM_000152.5(GAA):c.858+1G>A
|
|
|
NM_000152.5(GAA):c.859-1G>C
|
|
|
NM_000152.5(GAA):c.859-2A>G
|
rs2143848897
|
|
NM_000152.5(GAA):c.874T>C (p.Tyr292His)
|
|
|
NM_000152.5(GAA):c.922C>G (p.His308Asp)
|
|
|
NM_000152.5(GAA):c.925G>T (p.Gly309Trp)
|
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
NM_000152.5(GAA):c.990G>C (p.Trp330Cys)
|
|
|
NM_000154.2(GALK1):c.355+1G>A
|
|
|
NM_000154.2(GALK1):c.475+1G>A
|
|
|
NM_000154.2(GALK1):c.476-2A>G
|
|
|
NM_000154.2(GALK1):c.612-1G>T
|
|
|
NM_000154.2(GALK1):c.944+1G>T
|
rs113464656
|
|
NM_000154.2(GALK1):c.945-36_992del
|
rs2143586633
|
|
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn)
|
rs775317639
|
|
NM_000155.4(GALT):c.1049C>G (p.Thr350Ser)
|
|
|
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly)
|
rs1821203474
|
|
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys)
|
rs367543273
|
|
NM_000155.4(GALT):c.133T>C (p.Ser45Pro)
|
rs2132341560
|
|
NM_000155.4(GALT):c.134C>T (p.Ser45Leu)
|
rs111033652
|
|
NM_000155.4(GALT):c.241G>A (p.Ala81Thr)
|
rs111033665
|
|
NM_000155.4(GALT):c.289A>G (p.Asn97Asp)
|
rs1564100957
|
|
NM_000155.4(GALT):c.328+2T>G
|
|
|
NM_000155.4(GALT):c.378-2A>G
|
rs1554709280
|
|
NM_000155.4(GALT):c.378-2A>T
|
rs1554709280
|
|
NM_000155.4(GALT):c.394C>T (p.His132Tyr)
|
rs111033688
|
|
NM_000155.4(GALT):c.403T>G (p.Ser135Ala)
|
rs2132343082
|
|
NM_000155.4(GALT):c.405G>A (p.Ser135=)
|
rs141232328
|
|
NM_000155.4(GALT):c.413C>G (p.Thr138Arg)
|
rs111033686
|
|
NM_000155.4(GALT):c.424A>C (p.Met142Leu)
|
|
|
NM_000155.4(GALT):c.499T>C (p.Trp167Arg)
|
rs111033708
|
|
NM_000155.4(GALT):c.501G>C (p.Trp167Cys)
|
|
|
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)
|
rs111033721
|
|
NM_000155.4(GALT):c.550C>G (p.His184Asp)
|
rs111033716
|
|
NM_000155.4(GALT):c.556C>A (p.His186Asn)
|
rs111033725
|
|
NM_000155.4(GALT):c.557A>G (p.His186Arg)
|
|
|
NM_000155.4(GALT):c.558C>A (p.His186Gln)
|
rs886042097
|
|
NM_000155.4(GALT):c.586C>G (p.Pro196Ala)
|
|
|
NM_000155.4(GALT):c.587C>T (p.Pro196Leu)
|
rs886042066
|
|
NM_000155.4(GALT):c.604G>A (p.Glu202Lys)
|
rs2132344159
|
|
NM_000155.4(GALT):c.608A>G (p.Glu203Gly)
|
rs2132344172
|
|
NM_000155.4(GALT):c.611G>C (p.Arg204Pro)
|
rs111033740
|
|
NM_000155.4(GALT):c.625T>G (p.Tyr209Asp)
|
rs2132344222
|
|
NM_000155.4(GALT):c.650T>C (p.Leu217Pro)
|
rs111033741
|
|
NM_000155.4(GALT):c.668G>A (p.Arg223His)
|
|
|
NM_000155.4(GALT):c.688-1G>C
|
rs1821175162
|
|
NM_000155.4(GALT):c.691C>G (p.Arg231Gly)
|
rs111033749
|
|
NM_000155.4(GALT):c.815G>T (p.Arg272Leu)
|
|
|
NM_000155.4(GALT):c.82+2del
|
rs794726876
|
|
NM_000155.4(GALT):c.821-1del
|
rs2132345349
|
|
NM_000155.4(GALT):c.835A>G (p.Met279Val)
|
|
|
NM_000155.4(GALT):c.836T>G (p.Met279Arg)
|
rs111033779
|
|
NM_000155.4(GALT):c.854A>C (p.Lys285Thr)
|
|
|
NM_000155.4(GALT):c.86A>G (p.His29Arg)
|
rs2132341442
|
|
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr)
|
rs111033781
|
|
NM_000155.4(GALT):c.883C>T (p.Pro295Ser)
|
|
|
NM_000155.4(GALT):c.892A>G (p.Met298Val)
|
rs1821187430
|
|
NM_000155.4(GALT):c.896G>A (p.Gly299Asp)
|
|
|
NM_000155.4(GALT):c.900G>T (p.Trp300Cys)
|
|
|
NM_000155.4(GALT):c.905-2A>G
|
rs398123187
|
|
NM_000155.4(GALT):c.910C>G (p.Pro304Ala)
|
|
|
NM_000155.4(GALT):c.910C>T (p.Pro304Ser)
|
rs2132346162
|
|
NM_000155.4(GALT):c.91C>A (p.His31Asn)
|
rs111033643
|
|
NM_000155.4(GALT):c.971C>T (p.Pro324Leu)
|
|
|
NM_000155.4(GALT):c.980T>C (p.Leu327Pro)
|
rs111033832
|
|
NM_000155.4(GALT):c.98G>A (p.Arg33His)
|
rs111033829
|
|
NM_000158.4(GBE1):c.1108+2T>C
|
|
|
NM_000158.4(GBE1):c.1109-1G>A
|
rs763258786
|
|
NM_000158.4(GBE1):c.1109-2A>G
|
|
|
NM_000158.4(GBE1):c.1236+1G>A
|
|
|
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)
|
rs1456579860
|
|
NM_000158.4(GBE1):c.1543C>G (p.Arg515Gly)
|
|
|
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly)
|
rs137852888
|
|
NM_000158.4(GBE1):c.1618+1G>A
|
rs1703670302
|
|
NM_000158.4(GBE1):c.1619-1G>A
|
rs2106872434
|
|
NM_000158.4(GBE1):c.1622A>G (p.Asn541Ser)
|
|
|
NM_000158.4(GBE1):c.1634A>G (p.His545Arg)
|
rs137852889
|
|
NM_000158.4(GBE1):c.1799_1803+8del
|
|
|
NM_000158.4(GBE1):c.1803+1G>A
|
rs1273791312
|
|
NM_000158.4(GBE1):c.1804-2A>T
|
rs1224090803
|
|
NM_000158.4(GBE1):c.1934+2T>A
|
rs752625236
|
|
NM_000158.4(GBE1):c.1934+2T>C
|
|
|
NM_000158.4(GBE1):c.1935-1C>T
|
rs1475447884
|
|
NM_000158.4(GBE1):c.1935-2A>G
|
|
|
NM_000158.4(GBE1):c.1935-2del
|
rs2106810015
|
|
NM_000158.4(GBE1):c.2052+1G>A
|
rs2106809795
|
|
NM_000158.4(GBE1):c.2052+1G>T
|
rs2106809795
|
|
NM_000158.4(GBE1):c.314-1G>C
|
|
|
NM_000158.4(GBE1):c.314-2A>G
|
rs2107114825
|
|
NM_000158.4(GBE1):c.430-1G>C
|
|
|
NM_000158.4(GBE1):c.556-1G>A
|
|
|
NM_000158.4(GBE1):c.691+5G>C
|
rs397515344
|
|
NM_000158.4(GBE1):c.692-1G>A
|
|
|
NM_000158.4(GBE1):c.783-1G>A
|
rs397515342
|
|
NM_000158.4(GBE1):c.783C>A (p.Ser261Arg)
|
|
|
NM_000158.4(GBE1):c.783C>G (p.Ser261Arg)
|
rs1559673607
|
|
NM_000158.4(GBE1):c.790G>A (p.Gly264Arg)
|
|
|
NM_000158.4(GBE1):c.791G>C (p.Gly264Ala)
|
|
|
NM_000158.4(GBE1):c.955C>G (p.His319Asp)
|
|
|
NM_000158.4(GBE1):c.956A>G (p.His319Arg)
|
rs1490328834
|
|
NM_000158.4(GBE1):c.985T>C (p.Tyr329His)
|
|
|
NM_000158.4(GBE1):c.992+2T>G
|
rs772349876
|
|
NM_000158.4(GBE1):c.993-2A>G
|
|
|
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr)
|
rs1302470051
|
|
NM_000181.4(GUSB):c.1476_1476+13del
|
|
|
NM_000181.4(GUSB):c.1477-1G>C
|
|
|
NM_000181.4(GUSB):c.1477-2A>G
|
|
|
NM_000181.4(GUSB):c.1654-1G>A
|
|
|
NM_000181.4(GUSB):c.396+1G>A
|
|
|
NM_000181.4(GUSB):c.560_581+13del
|
|
|
NM_000181.4(GUSB):c.581+1G>A
|
|
|
NM_000181.4(GUSB):c.647G>A (p.Arg216Gln)
|
rs1791836120
|
|
NM_000181.4(GUSB):c.724+1G>T
|
rs2116026958
|
|
NM_000199.5(SGSH):c.1129C>A (p.Arg377Ser)
|
|
|
NM_000199.5(SGSH):c.1186T>C (p.Phe396Leu)
|
|
|
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn)
|
rs1064794815
|
|
NM_000199.5(SGSH):c.1340A>G (p.Glu447Gly)
|
|
|
NM_000199.5(SGSH):c.1431C>A (p.Asp477Glu)
|
|
|
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)
|
rs1131691434
|
|
NM_000199.5(SGSH):c.188C>A (p.Ala63Asp)
|
|
|
NM_000199.5(SGSH):c.197C>T (p.Ser66Leu)
|
|
|
NM_000199.5(SGSH):c.239G>T (p.Gly80Val)
|
|
|
NM_000199.5(SGSH):c.250-2A>G
|
|
|
NM_000199.5(SGSH):c.254A>G (p.Gln85Arg)
|
|
|
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg)
|
rs774010006
|
|
NM_000199.5(SGSH):c.356-1G>A
|
rs1555621984
|
|
NM_000199.5(SGSH):c.356-2A>G
|
rs1057517927
|
|
NM_000199.5(SGSH):c.36_88+420del
|
|
|
NM_000199.5(SGSH):c.539C>T (p.Pro180Leu)
|
|
|
NM_000199.5(SGSH):c.663+1G>A
|
|
|
NM_000199.5(SGSH):c.664-1G>T
|
rs1555621425
|
|
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu)
|
rs1057521801
|
|
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)
|
rs34520362
|
|
NM_000199.5(SGSH):c.703G>C (p.Asp235His)
|
|
|
NM_000199.5(SGSH):c.703G>T (p.Asp235Tyr)
|
|
|
NM_000199.5(SGSH):c.733C>A (p.Arg245Ser)
|
|
|
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys)
|
rs1455698449
|
|
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu)
|
rs104894635
|
|
NM_000199.5(SGSH):c.88G>C (p.Ala30Pro)
|
rs758793075
|
|
NM_000199.5(SGSH):c.88_88+67del
|
rs2144830115
|
|
NM_000199.5(SGSH):c.89-2A>G
|
rs1369704445
|
|
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg)
|
rs1385473515
|
|
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly)
|
rs2089378583
|
|
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp)
|
rs1557338581
|
|
NM_000202.8(IDS):c.1007-133A>G
|
rs2124007227
|
|
NM_000202.8(IDS):c.1007G>A (p.Gly336Glu)
|
|
|
NM_000202.8(IDS):c.1021G>A (p.Glu341Lys)
|
rs2124006380
|
|
NM_000202.8(IDS):c.1024C>T (p.His342Tyr)
|
rs2089343220
|
|
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg)
|
rs2089342939
|
|
NM_000202.8(IDS):c.1418C>T (p.Pro473Leu)
|
rs2089305403
|
|
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)
|
rs2123994251
|
|
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter)
|
rs886044837
|
|
NM_000202.8(IDS):c.187A>G (p.Asn63Asp)
|
rs193302909
|
|
NM_000202.8(IDS):c.328A>G (p.Arg110Gly)
|
rs2124063287
|
|
NM_000202.8(IDS):c.454A>C (p.Ser152Arg)
|
rs2124055504
|
|
NM_000202.8(IDS):c.670G>A (p.Gly224Arg)
|
rs2089450754
|
|
NM_000202.8(IDS):c.671G>C (p.Gly224Ala)
|
|
|
NM_000202.8(IDS):c.801G>T (p.Trp267Cys)
|
rs2124041510
|
|
NM_000202.8(IDS):c.823G>A (p.Asp275Asn)
|
|
|
NM_000202.8(IDS):c.823G>T (p.Asp275Tyr)
|
|
|
NM_000202.8(IDS):c.880-2_880-1delinsCC
|
|
|
NM_000202.8(IDS):c.913T>C (p.Ser305Pro)
|
rs2124020632
|
|
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg)
|
rs2153022349
|
|
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr)
|
rs780106243
|
|
NM_000203.5(IDUA):c.1087C>A (p.Arg363Ser)
|
|
|
NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys)
|
|
|
NM_000203.5(IDUA):c.1091C>G (p.Thr364Arg)
|
|
|
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)
|
rs1553917304
|
|
NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys)
|
|
|
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)
|
rs794727896
|
|
NM_000203.5(IDUA):c.141GAG[1] (p.Arg48del)
|
rs1713799705
|
|
NM_000203.5(IDUA):c.1466G>C (p.Arg489Pro)
|
rs1416328981
|
|
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)
|
rs121965026
|
|
NM_000203.5(IDUA):c.1513C>G (p.Arg505Gly)
|
rs1715218377
|
|
NM_000203.5(IDUA):c.1525-11_1536del
|
rs1715233169
|
|
NM_000203.5(IDUA):c.1525-1G>A
|
|
|
NM_000203.5(IDUA):c.1525-2A>C
|
rs2153022881
|
|
NM_000203.5(IDUA):c.159-1G>A
|
rs1553914935
|
|
NM_000203.5(IDUA):c.159-2A>C
|
rs2153015588
|
|
NM_000203.5(IDUA):c.159-2A>G
|
rs2153015588
|
|
NM_000203.5(IDUA):c.1597C>A (p.Pro533Thr)
|
rs374779600
|
|
NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser)
|
|
|
NM_000203.5(IDUA):c.1598C>A (p.Pro533Gln)
|
|
|
NM_000203.5(IDUA):c.1651-2A>G
|
rs2153022990
|
|
NM_000203.5(IDUA):c.1709A>G (p.Asp570Gly)
|
|
|
NM_000203.5(IDUA):c.1709A>T (p.Asp570Val)
|
|
|
NM_000203.5(IDUA):c.1723_1727+4del
|
|
|
NM_000203.5(IDUA):c.1829-1G>C
|
|
|
NM_000203.5(IDUA):c.1829-2A>G
|
rs1553917733
|
|
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)
|
rs2153023287
|
|
NM_000203.5(IDUA):c.1874A>C (p.Tyr625Ser)
|
|
|
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys)
|
rs587779401
|
|
NM_000203.5(IDUA):c.1897del (p.Ser633fs)
|
rs1553917756
|
|
NM_000203.5(IDUA):c.224C>T (p.Ala75Val)
|
rs1315260083
|
|
NM_000203.5(IDUA):c.299_299+1delinsAT
|
rs2153015709
|
|
NM_000203.5(IDUA):c.300-7_306del
|
|
|
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)
|
rs875989946
|
|
NM_000203.5(IDUA):c.536C>A (p.Thr179Lys)
|
|
|
NM_000203.5(IDUA):c.540G>C (p.Trp180Cys)
|
|
|
NM_000203.5(IDUA):c.543_544inv (p.Glu182Lys)
|
|
|
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys)
|
|
|
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg)
|
rs1238128027
|
|
NM_000203.5(IDUA):c.607G>T (p.Asp203Tyr)
|
rs2153021976
|
|
NM_000203.5(IDUA):c.608A>G (p.Asp203Gly)
|
rs2153021978
|
|
NM_000203.5(IDUA):c.613T>G (p.Cys205Gly)
|
|
|
NM_000203.5(IDUA):c.623G>C (p.Gly208Ala)
|
|
|
NM_000203.5(IDUA):c.655G>A (p.Gly219Arg)
|
|
|
NM_000203.5(IDUA):c.713T>C (p.Leu238Pro)
|
rs148789453
|
|
NM_000203.5(IDUA):c.718C>T (p.His240Tyr)
|
|
|
NM_000203.5(IDUA):c.905C>G (p.Pro302Arg)
|
rs767140903
|
|
NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)
|
|
|
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu)
|
rs781534097
|
|
NM_000262.3(NAGA):c.16+1G>A
|
|
|
NM_000262.3(NAGA):c.322_324+9del
|
|
|
NM_000262.3(NAGA):c.324+1G>C
|
|
|
NM_000262.3(NAGA):c.598-1G>A
|
|
|
NM_000262.3(NAGA):c.759+1_759+8del
|
rs768761898
|
|
NM_000262.3(NAGA):c.949_957+8del
|
|
|
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)
|
rs749140168
|
|
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser)
|
rs768918822
|
|
NM_000263.4(NAGLU):c.103C>T (p.Leu35Phe)
|
rs2143075651
|
|
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu)
|
rs753454744
|
|
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
|
|
|
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr)
|
rs1599260473
|
|
NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys)
|
|
|
NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe)
|
|
|
NM_000263.4(NAGLU):c.1224C>A (p.His408Gln)
|
|
|
NM_000263.4(NAGLU):c.1277G>C (p.Gly426Ala)
|
rs771151036
|
|
NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser)
|
|
|
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln)
|
rs200909691
|
|
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro)
|
|
|
NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val)
|
|
|
NM_000263.4(NAGLU):c.1682T>C (p.Leu561Pro)
|
rs2092928624
|
|
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro)
|
rs144238669
|
|
NM_000263.4(NAGLU):c.1810C>T (p.Pro604Ser)
|
rs1347224658
|
|
NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser)
|
|
|
NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu)
|
|
|
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val)
|
rs1567894363
|
|
NM_000263.4(NAGLU):c.2171_2172del (p.Val724fs)
|
rs2143116788
|
|
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly)
|
rs1599253805
|
|
NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser)
|
|
|
NM_000263.4(NAGLU):c.236G>A (p.Gly79Asp)
|
|
|
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp)
|
rs2092906798
|
|
NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu)
|
rs1379877908
|
|
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys)
|
|
|
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His)
|
|
|
NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser)
|
|
|
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp)
|
rs746876753
|
|
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
|
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
NM_000263.4(NAGLU):c.482G>A (p.Gly161Asp)
|
|
|
NM_000263.4(NAGLU):c.531+1G>A
|
rs1245939928
|
|
NM_000263.4(NAGLU):c.532-1G>A
|
rs2143086378
|
|
NM_000263.4(NAGLU):c.532-1G>C
|
rs2143086378
|
|
NM_000263.4(NAGLU):c.638C>T (p.Pro213Leu)
|
|
|
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly)
|
rs104894601
|
|
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
|
rs886042073
|
|
NM_000263.4(NAGLU):c.764+2T>C
|
|
|
NM_000263.4(NAGLU):c.833C>T (p.Ser278Phe)
|
|
|
NM_000263.4(NAGLU):c.875G>A (p.Gly292Glu)
|
rs1209988199
|
|
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val)
|
rs1599258487
|
|
NM_000263.4(NAGLU):c.925T>C (p.Tyr309His)
|
rs2143099180
|
|
NM_000263.4(NAGLU):c.926A>T (p.Tyr309Phe)
|
rs1305299665
|
|
NM_000263.4(NAGLU):c.934G>C (p.Asp312His)
|
|
|
NM_000263.4(NAGLU):c.935A>C (p.Asp312Ala)
|
|
|
NM_000263.4(NAGLU):c.940T>G (p.Phe314Val)
|
rs104894600
|
|
NM_000263.4(NAGLU):c.941T>C (p.Phe314Ser)
|
rs1181487342
|
|
NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)
|
|
|
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)
|
|
|
NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)
|
|
|
NM_000284.4(PDHA1):c.899+2T>C
|
|
|
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)
|
|
|
NM_000289.6(PFKM):c.1062+1G>A
|
|
|
NM_000289.6(PFKM):c.1062+2T>C
|
rs2135957798
|
|
NM_000289.6(PFKM):c.1127+1G>T
|
rs2135976459
|
|
NM_000289.6(PFKM):c.1128-2A>G
|
|
|
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
|
|
|
NM_000289.6(PFKM):c.1192-2A>G
|
|
|
NM_000289.6(PFKM):c.1341+1G>C
|
|
|
NM_000289.6(PFKM):c.1342-1G>C
|
|
|
NM_000289.6(PFKM):c.1412+1G>T
|
|
|
NM_000289.6(PFKM):c.1412+2T>C
|
|
|
NM_000289.6(PFKM):c.1501-2del
|
rs1410122696
|
|
NM_000289.6(PFKM):c.159+1G>T
|
rs1305706304
|
|
NM_000289.6(PFKM):c.1653+2T>G
|
|
|
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)
|
|
|
NM_000289.6(PFKM):c.1992+1G>T
|
|
|
NM_000289.6(PFKM):c.2047_2092+14del
|
|
|
NM_000289.6(PFKM):c.2092+2T>C
|
|
|
NM_000289.6(PFKM):c.238-3A>G
|
|
|
NM_000289.6(PFKM):c.594-1G>A
|
|
|
NM_000289.6(PFKM):c.638+1G>T
|
|
|
NM_000289.6(PFKM):c.936+2T>G
|
|
|
NM_000292.3(PHKA2):c.1042-1G>A
|
rs2048391185
|
|
NM_000292.3(PHKA2):c.1137+2T>C
|
rs2147946477
|
|
NM_000292.3(PHKA2):c.1714+1G>A
|
rs1556002344
|
|
NM_000292.3(PHKA2):c.2518-1G>A
|
rs2047834385
|
|
NM_000292.3(PHKA2):c.2597+1G>A
|
rs1210626722
|
|
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp)
|
rs1569297427
|
|
NM_000292.3(PHKA2):c.285+2_285+5del
|
rs2048714302
|
|
NM_000292.3(PHKA2):c.3112-2A>G
|
|
|
NM_000292.3(PHKA2):c.3283-1G>C
|
rs2047516641
|
|
NM_000292.3(PHKA2):c.3336+1dup
|
rs2047514376
|
|
NM_000292.3(PHKA2):c.3336+2T>A
|
rs1555988479
|
|
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile)
|
rs137852293
|
|
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu)
|
rs1601685358
|
|
NM_000292.3(PHKA2):c.3644_3646dup (p.Leu1215_Thr1216insIle)
|
rs2047467477
|
|
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys)
|
rs137852294
|
|
NM_000292.3(PHKA2):c.559G>A (p.Gly187Arg)
|
rs2147972085
|
|
NM_000292.3(PHKA2):c.919-2A>G
|
rs2147954334
|
|
NM_000293.3(PHKB):c.1126+1G>T
|
|
|
NM_000293.3(PHKB):c.1126+2T>C
|
|
|
NM_000293.3(PHKB):c.1204+1G>T
|
|
|
NM_000293.3(PHKB):c.1364-1G>A
|
|
|
NM_000293.3(PHKB):c.1609-2A>C
|
|
|
NM_000293.3(PHKB):c.1693-2A>G
|
|
|
NM_000293.3(PHKB):c.1797+1G>A
|
|
|
NM_000293.3(PHKB):c.1797+1G>C
|
rs777714363
|
|
NM_000293.3(PHKB):c.2278+1G>A
|
|
|
NM_000293.3(PHKB):c.2329_2336+5del
|
|
|
NM_000293.3(PHKB):c.2427+1052_2427+1083del
|
|
|
NM_000293.3(PHKB):c.2427+1G>A
|
|
|
NM_000293.3(PHKB):c.2895+1G>A
|
|
|
NM_000293.3(PHKB):c.3003+2T>C
|
|
|
NM_000293.3(PHKB):c.3004-2A>G
|
|
|
NM_000293.3(PHKB):c.305+2T>C
|
|
|
NM_000293.3(PHKB):c.513+2T>A
|
|
|
NM_000293.3(PHKB):c.595-1G>A
|
rs2151672494
|
|
NM_000293.3(PHKB):c.710+1G>T
|
|
|
NM_000293.3(PHKB):c.77-1G>A
|
|
|
NM_000293.3(PHKB):c.775-1G>A
|
|
|
NM_000294.3(PHKG2):c.392+2T>G
|
|
|
NM_000294.3(PHKG2):c.393-2A>G
|
|
|
NM_000308.4(CTSA):c.1088+1G>A
|
|
|
NM_000308.4(CTSA):c.1255-1G>A
|
|
|
NM_000308.4(CTSA):c.306+2T>A
|
|
|
NM_000308.4(CTSA):c.358-2A>G
|
|
|
NM_000308.4(CTSA):c.445-18_447del
|
rs1987030082
|
|
NM_000308.4(CTSA):c.445-1G>C
|
|
|
NM_000308.4(CTSA):c.601-2A>C
|
|
|
NM_000308.4(CTSA):c.948+13_954delinsAGA
|
|
|
NM_000343.4(SLC5A1):c.1021+1G>A
|
rs2149492476
|
|
NM_000343.4(SLC5A1):c.1496G>A (p.Arg499His)
|
|
|
NM_000343.4(SLC5A1):c.372+1_372+2insCTTATAT
|
rs764766115
|
|
NM_000343.4(SLC5A1):c.665-2A>G
|
|
|
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg)
|
rs137852344
|
|
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)
|
rs137852326
|
|
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr)
|
rs137852346
|
|
NM_000404.4(GLB1):c.1009C>G (p.Leu337Val)
|
rs376034559
|
|
NM_000404.4(GLB1):c.1060A>G (p.Ile354Val)
|
|
|
NM_000404.4(GLB1):c.1188_1189delinsCT (p.Pro397Ser)
|
|
|
NM_000404.4(GLB1):c.1234-1G>T
|
|
|
NM_000404.4(GLB1):c.1256G>C (p.Arg419Pro)
|
|
|
NM_000404.4(GLB1):c.1258A>G (p.Thr420Ala)
|
rs200181401
|
|
NM_000404.4(GLB1):c.1347+1G>T
|
|
|
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)
|
rs968221254
|
|
NM_000404.4(GLB1):c.1468_1470del (p.Asn490del)
|
rs1215113920
|
|
NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn)
|
rs1172435886
|
|
NM_000404.4(GLB1):c.148T>C (p.Tyr50His)
|
|
|
NM_000404.4(GLB1):c.1498A>T (p.Thr500Ser)
|
|
|
NM_000404.4(GLB1):c.151A>C (p.Ile51Leu)
|
|
|
NM_000404.4(GLB1):c.160A>G (p.Ser54Gly)
|
|
|
NM_000404.4(GLB1):c.1645C>T (p.Pro549Ser)
|
rs2125463133
|
|
NM_000404.4(GLB1):c.1660G>A (p.Gly554Arg)
|
|
|
NM_000404.4(GLB1):c.1667T>C (p.Phe556Ser)
|
|
|
NM_000404.4(GLB1):c.1685dup (p.Asp564fs)
|
rs1697138071
|
|
NM_000404.4(GLB1):c.1739A>G (p.Gln580Arg)
|
rs2125442981
|
|
NM_000404.4(GLB1):c.1742T>G (p.Val581Gly)
|
|
|
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)
|
rs794727165
|
|
NM_000404.4(GLB1):c.1768C>G (p.Arg590Gly)
|
|
|
NM_000404.4(GLB1):c.176G>T (p.Arg59Leu)
|
rs72555392
|
|
NM_000404.4(GLB1):c.1771T>C (p.Tyr591His)
|
|
|
NM_000404.4(GLB1):c.1772A>C (p.Tyr591Ser)
|
rs72555371
|
|
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys)
|
rs759483184
|
|
NM_000404.4(GLB1):c.2009_2010del (p.Lys670fs)
|
|
|
NM_000404.4(GLB1):c.202C>G (p.Arg68Gly)
|
rs72555370
|
|
NM_000404.4(GLB1):c.203G>T (p.Arg68Leu)
|
rs572237881
|
|
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu)
|
rs397515616
|
|
NM_000404.4(GLB1):c.396+2T>C
|
rs1057517738
|
|
NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del)
|
rs751033858
|
|
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe)
|
rs1553612143
|
|
NM_000404.4(GLB1):c.443G>T (p.Arg148Leu)
|
|
|
NM_000404.4(GLB1):c.457+2T>C
|
rs398123354
|
|
NM_000404.4(GLB1):c.517C>T (p.Leu173Phe)
|
|
|
NM_000404.4(GLB1):c.520T>G (p.Tyr174Asp)
|
|
|
NM_000404.4(GLB1):c.521A>C (p.Tyr174Ser)
|
rs2125543580
|
|
NM_000404.4(GLB1):c.552+2T>C
|
rs1553611778
|
|
NM_000404.4(GLB1):c.572G>C (p.Ser191Thr)
|
|
|
NM_000404.4(GLB1):c.572G>T (p.Ser191Ile)
|
|
|
NM_000404.4(GLB1):c.76-1G>T
|
|
|
NM_000404.4(GLB1):c.765G>C (p.Gln255His)
|
rs1553610553
|
|
NM_000404.4(GLB1):c.765G>T (p.Gln255His)
|
|
|
NM_000404.4(GLB1):c.827A>C (p.His276Pro)
|
rs1559401406
|
|
NM_000404.4(GLB1):c.842A>G (p.His281Arg)
|
|
|
NM_000404.4(GLB1):c.915-1G>T
|
rs749020375
|
|
NM_000404.4(GLB1):c.915-2A>G
|
|
|
NM_000404.4(GLB1):c.932G>A (p.Gly311Glu)
|
|
|
NM_000404.4(GLB1):c.937A>G (p.Asn313Asp)
|
|
|
NM_000404.4(GLB1):c.955+2T>G
|
rs746883447
|
|
NM_000404.4(GLB1):c.971A>C (p.Tyr324Ser)
|
|
|
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)
|
rs977975596
|
|
NM_000507.4(FBP1):c.427-2A>G
|
|
|
NM_000507.4(FBP1):c.639C>A (p.Asn213Lys)
|
|
|
NM_000512.5(GALNS):c.1018G>A (p.Gly340Ser)
|
|
|
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del)
|
rs1567519221
|
|
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn)
|
rs1967935603
|
|
NM_000512.5(GALNS):c.1196A>C (p.Lys399Thr)
|
rs1267791852
|
|
NM_000512.5(GALNS):c.121-7C>G
|
rs1004936255
|
|
NM_000512.5(GALNS):c.1242+1G>C
|
|
|
NM_000512.5(GALNS):c.1242+1G>T
|
rs2142993764
|
|
NM_000512.5(GALNS):c.1364+2_1364+15del
|
|
|
NM_000512.5(GALNS):c.1365-2A>G
|
|
|
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser)
|
rs1204485789
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
NM_000512.5(GALNS):c.1487G>C (p.Trp496Ser)
|
|
|
NM_000512.5(GALNS):c.181C>G (p.Arg61Gly)
|
rs145798311
|
|
NM_000512.5(GALNS):c.185T>G (p.Met62Arg)
|
|
|
NM_000512.5(GALNS):c.230C>T (p.Pro77Leu)
|
|
|
NM_000512.5(GALNS):c.245-2A>G
|
rs1352162269
|
|
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys)
|
rs2143005086
|
|
NM_000512.5(GALNS):c.289T>G (p.Phe97Val)
|
rs2143005083
|
|
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly)
|
rs2143005072
|
|
NM_000512.5(GALNS):c.337A>G (p.Ile113Val)
|
|
|
NM_000512.5(GALNS):c.373C>T (p.Pro125Ser)
|
|
|
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln)
|
rs746949976
|
|
NM_000512.5(GALNS):c.422+1G>T
|
rs1966940003
|
|
NM_000512.5(GALNS):c.422+2T>G
|
rs2143004585
|
|
NM_000512.5(GALNS):c.425A>C (p.His142Pro)
|
rs1288895691
|
|
NM_000512.5(GALNS):c.425A>T (p.His142Leu)
|
rs1288895691
|
|
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu)
|
rs2143002437
|
|
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr)
|
rs2143002331
|
|
NM_000512.5(GALNS):c.566+1G>A
|
|
|
NM_000512.5(GALNS):c.601G>A (p.Gly201Arg)
|
|
|
NM_000512.5(GALNS):c.641T>G (p.Leu214Arg)
|
|
|
NM_000512.5(GALNS):c.648C>G (p.Phe216Leu)
|
rs2143001453
|
|
NM_000512.5(GALNS):c.679T>G (p.Phe227Val)
|
rs2143001417
|
|
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)
|
rs368603508
|
|
NM_000512.5(GALNS):c.700G>T (p.Ala234Ser)
|
|
|
NM_000512.5(GALNS):c.716T>G (p.Val239Gly)
|
|
|
NM_000512.5(GALNS):c.851T>G (p.Phe284Cys)
|
|
|
NM_000512.5(GALNS):c.902G>A (p.Gly301Asp)
|
rs776715466
|
|
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)
|
rs2142999202
|
|
NM_000528.4(MAN2B1):c.1027-1G>C
|
|
|
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro)
|
rs864621980
|
|
NM_000528.4(MAN2B1):c.1109+1G>C
|
rs2024027294
|
|
NM_000528.4(MAN2B1):c.1110-1G>A
|
|
|
NM_000528.4(MAN2B1):c.1110-1G>T
|
rs1599352199
|
|
NM_000528.4(MAN2B1):c.1310-1G>A
|
rs1555708156
|
|
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe)
|
rs864621984
|
|
NM_000528.4(MAN2B1):c.1419+1G>T
|
|
|
NM_000528.4(MAN2B1):c.1419+2_1419+15del
|
rs2145256406
|
|
NM_000528.4(MAN2B1):c.1420-104_1449del
|
|
|
NM_000528.4(MAN2B1):c.1420-27_1420-3del
|
|
|
NM_000528.4(MAN2B1):c.1420-2A>G
|
rs2145254657
|
|
NM_000528.4(MAN2B1):c.1528-1G>T
|
rs561991886
|
|
NM_000528.4(MAN2B1):c.1528-2A>G
|
|
|
NM_000528.4(MAN2B1):c.159+1G>A
|
rs1555710254
|
|
NM_000528.4(MAN2B1):c.159+2T>C
|
rs1057516501
|
|
NM_000528.4(MAN2B1):c.2166-2A>G
|
rs2145232776
|
|
NM_000528.4(MAN2B1):c.2248C>G (p.Arg750Gly)
|
rs80338680
|
|
NM_000528.4(MAN2B1):c.2268-2A>T
|
rs2023783146
|
|
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp)
|
rs864621994
|
|
NM_000528.4(MAN2B1):c.2437-300_2719del
|
|
|
NM_000528.4(MAN2B1):c.262+2T>C
|
|
|
NM_000528.4(MAN2B1):c.263-1G>A
|
|
|
NM_000528.4(MAN2B1):c.263-2A>C
|
|
|
NM_000528.4(MAN2B1):c.2665-2A>G
|
|
|
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)
|
rs758765126
|
|
NM_000528.4(MAN2B1):c.2821-2A>G
|
|
|
NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs)
|
rs2023710111
|
|
NM_000528.4(MAN2B1):c.437-1G>A
|
|
|
NM_000528.4(MAN2B1):c.437-2A>G
|
|
|
NM_000528.4(MAN2B1):c.437-2del
|
|
|
NM_000528.4(MAN2B1):c.631-2A>C
|
|
|
NM_000528.4(MAN2B1):c.686G>T (p.Arg229Leu)
|
rs574202419
|
|
NM_000528.4(MAN2B1):c.763+2_763+8del
|
rs1057517108
|
|
NM_000528.4(MAN2B1):c.909+1G>C
|
|
|
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)
|
rs1131691438
|
|
NM_000642.3(AGL):c.1283+2T>C
|
|
|
NM_000642.3(AGL):c.1284-2A>G
|
rs1651536973
|
|
NM_000642.3(AGL):c.1611+2T>G
|
|
|
NM_000642.3(AGL):c.2001+1G>T
|
|
|
NM_000642.3(AGL):c.2002-1G>C
|
rs2100759240
|
|
NM_000642.3(AGL):c.2158-1G>T
|
|
|
NM_000642.3(AGL):c.2158-2A>G
|
rs878959417
|
|
NM_000642.3(AGL):c.2308+2T>A
|
|
|
NM_000642.3(AGL):c.2434-1G>T
|
rs2100768726
|
|
NM_000642.3(AGL):c.2810_2812+21del
|
|
|
NM_000642.3(AGL):c.293+1del
|
rs777857395
|
|
NM_000642.3(AGL):c.294-2A>T
|
rs1057516868
|
|
NM_000642.3(AGL):c.2949+2T>A
|
rs750492389
|
|
NM_000642.3(AGL):c.2950-1G>C
|
rs1057516793
|
|
NM_000642.3(AGL):c.2950-2A>C
|
rs770438130
|
|
NM_000642.3(AGL):c.3054_3083+34del
|
|
|
NM_000642.3(AGL):c.3083+1G>A
|
rs2100790188
|
|
NM_000642.3(AGL):c.3084-1G>A
|
|
|
NM_000642.3(AGL):c.3260-2A>T
|
rs775904482
|
|
NM_000642.3(AGL):c.3588_3588+14del
|
|
|
NM_000642.3(AGL):c.3588_3588+2del
|
|
|
NM_000642.3(AGL):c.3700+1G>A
|
rs2100825216
|
|
NM_000642.3(AGL):c.3700+2T>C
|
|
|
NM_000642.3(AGL):c.3949+1G>C
|
|
|
NM_000642.3(AGL):c.401_460+75delinsTATTACAT
|
|
|
NM_000642.3(AGL):c.4162-1G>A
|
rs1490339052
|
|
NM_000642.3(AGL):c.4162-2A>T
|
|
|
NM_000642.3(AGL):c.4260-2A>C
|
|
|
NM_000642.3(AGL):c.4347+1G>T
|
rs1553193463
|
|
NM_000642.3(AGL):c.4348-2A>T
|
rs1353062665
|
|
NM_000642.3(AGL):c.643G>A (p.Asp215Asn)
|
|
|
NM_000642.3(AGL):c.664+2T>C
|
rs1650347038
|
|
NM_000642.3(AGL):c.82+1G>C
|
|
|
NM_000642.3(AGL):c.82+1G>T
|
|
|
NM_000642.3(AGL):c.82+2T>G
|
|
|
NM_000642.3(AGL):c.842_846+29del
|
|
|
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)
|
rs199473368
|
|
NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe)
|
rs864622292
|
|
NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys)
|
rs2074387117
|
|
NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln)
|
rs104894581
|
|
NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys)
|
rs199473381
|
|
NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr)
|
rs104894583
|
|
NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro)
|
rs199473384
|
|
NM_000891.3(KCNJ2):c.779G>A (p.Arg260His)
|
rs199473385
|
|
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala)
|
rs199473387
|
|
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del)
|
rs2074390325
|
|
NM_000925.4(PDHB):c.303+1G>C
|
|
|
NM_000925.4(PDHB):c.304-1G>C
|
|
|
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln)
|
rs868788199
|
|
NM_000925.4(PDHB):c.41_43-12del
|
|
|
NM_000925.4(PDHB):c.96+2T>C
|
rs2107943571
|
|
NM_001008216.2(GALE):c.1004G>A (p.Arg335His)
|
|
|
NM_001008216.2(GALE):c.122-11_122-1del
|
|
|
NM_001008216.2(GALE):c.351+1G>T
|
rs1388106856
|
|
NM_001008216.2(GALE):c.351+2T>C
|
|
|
NM_001008216.2(GALE):c.528+1G>A
|
|
|
NM_001008216.2(GALE):c.643-2A>C
|
|
|
NM_001008216.2(GALE):c.709+2_709+17del
|
|
|
NM_001008216.2(GALE):c.795+1G>A
|
|
|
NM_001008216.2(GALE):c.873+2T>C
|
|
|
NM_001040716.2(PC):c.136+1G>T
|
|
|
NM_001040716.2(PC):c.1369-1G>C
|
rs2135822173
|
|
NM_001040716.2(PC):c.1514-2A>G
|
rs1945585636
|
|
NM_001040716.2(PC):c.1825+1G>A
|
rs1565214970
|
|
NM_001040716.2(PC):c.1826-1G>C
|
|
|
NM_001040716.2(PC):c.2473+1G>C
|
rs1304770743
|
|
NM_001040716.2(PC):c.2473+2T>C
|
|
|
NM_001040716.2(PC):c.2898+2T>C
|
rs2135791416
|
|
NM_001040716.2(PC):c.2898+2_2898+5del
|
|
|
NM_001040716.2(PC):c.3147+2T>C
|
rs2135788673
|
|
NM_001040716.2(PC):c.322-2A>G
|
rs2135940951
|
|
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs)
|
rs113994148
|
|
NM_001040716.2(PC):c.903+2T>A
|
rs1946669738
|
|
NM_001164277.2(SLC37A4):c.1124+3_1124+6del
|
rs782612223
|
|
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg)
|
rs193302884
|
|
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg)
|
rs193302885
|
|
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu)
|
rs2134640168
|
|
NM_001164277.2(SLC37A4):c.382-1G>T
|
|
|
NM_001164277.2(SLC37A4):c.382-2A>G
|
|
|
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)
|
rs121908977
|
|
NM_001164277.2(SLC37A4):c.785+2T>G
|
rs1592111559
|
|
NM_001164277.2(SLC37A4):c.786-1G>A
|
rs1943578039
|
|
NM_001164277.2(SLC37A4):c.786-2A>C
|
|
|
NM_001164277.2(SLC37A4):c.786-2A>G
|
rs2134633880
|
|
NM_001164277.2(SLC37A4):c.871+1G>A
|
|
|
NM_001164277.2(SLC37A4):c.872-1G>A
|
|
|
NM_001164277.2(SLC37A4):c.872-8_881del
|
|
|
NM_001164277.2(SLC37A4):c.985+1G>A
|
rs1943553565
|
|
NM_001164277.2(SLC37A4):c.986-1G>A
|
|
|
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1437+1G>A
|
|
|
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)
|
rs1198548955
|
|
NM_001352514.2(HLCS):c.1621-1G>C
|
rs1164174059
|
|
NM_001352514.2(HLCS):c.1621-2A>T
|
|
|
NM_001352514.2(HLCS):c.1892+1G>A
|
|
|
NM_001352514.2(HLCS):c.1960+1G>A
|
rs2090068896
|
|
NM_001352514.2(HLCS):c.2114_2121+5del
|
|
|
NM_001352514.2(HLCS):c.2237-2A>G
|
|
|
NM_001352514.2(HLCS):c.2237-56_2255del
|
rs2145732111
|
|
NM_001352514.2(HLCS):c.494-1G>A
|
|
|
NM_001352514.2(HLCS):c.494-2A>T
|
|
|
NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys)
|
rs2148328873
|
|
NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg)
|
|
|
NM_001360016.2(G6PD):c.1375C>T (p.Arg459Cys)
|
rs2070346788
|
|
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His)
|
rs72554665
|
|
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
|
|
|
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
|
|
|
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile)
|
rs1557230573
|
|
NM_001360016.2(G6PD):c.464A>C (p.His155Pro)
|
|
|
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
|
|
|
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala)
|
|
|
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr)
|
rs2070702973
|
|
NM_001360016.2(G6PD):c.962G>A (p.Gly321Glu)
|
|
|
NM_001365304.2(LOC112694756):c.*1133+2T>C
|
|
|
NM_001365304.2(LOC112694756):c.*1134-2A>G
|
|
|
NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)
|
|
|
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys)
|
rs397514415
|
|
NM_001370658.1(BTD):c.125T>C (p.Val42Ala)
|
|
|
NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly)
|
rs2065662435
|
|
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)
|
|
|
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)
|
rs146600671
|
|
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile)
|
rs796051941
|
|
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu)
|
rs397514428
|
|
NM_001370658.1(BTD):c.229G>A (p.Val77Met)
|
|
|
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr)
|
rs397514350
|
|
NM_001370658.1(BTD):c.253G>A (p.Val85Ile)
|
|
|
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)
|
rs397514352
|
|
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)
|
|
|
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
|
|
|
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)
|
|
|
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg)
|
rs955385869
|
|
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)
|
rs955385869
|
|
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser)
|
rs397514371
|
|
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
|
|
|
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)
|
|
|
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu)
|
rs398123140
|
|
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu)
|
rs397514438
|
|
NM_001370658.1(BTD):c.710T>A (p.Val237Asp)
|
rs1190721481
|
|
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)
|
rs1057520533
|
|
NM_001370658.1(BTD):c.827T>G (p.Val276Gly)
|
rs397514391
|
|
NM_001370658.1(BTD):c.875G>T (p.Gly292Val)
|
|
|
NM_001370658.1(BTD):c.881A>T (p.His294Leu)
|
|
|
NM_001931.5(DLAT):c.381+1G>T
|
|
|
NM_001931.5(DLAT):c.470T>G (p.Val157Gly)
|
rs797044957
|
|
NM_002076.4(GNS):c.1098+1G>A
|
|
|
NM_002076.4(GNS):c.1200+1G>T
|
|
|
NM_002076.4(GNS):c.1200+2T>A
|
rs2136240508
|
|
NM_002076.4(GNS):c.236_252+8del
|
rs2136253236
|
|
NM_002076.4(GNS):c.252+1G>T
|
rs368414819
|
|
NM_002076.4(GNS):c.625-1G>A
|
|
|
NM_002076.4(GNS):c.625-2A>G
|
rs2136247666
|
|
NM_002076.4(GNS):c.792+1G>A
|
|
|
NM_002076.4(GNS):c.995-2A>C
|
|
|
NM_002103.5(GYS1):c.1063-2A>G
|
|
|
NM_002103.5(GYS1):c.1229+1G>A
|
rs111911126
|
|
NM_002103.5(GYS1):c.1645+1G>A
|
|
|
NM_002103.5(GYS1):c.301-2A>C
|
rs2122525708
|
|
NM_002103.5(GYS1):c.678+2T>G
|
rs2122520177
|
|
NM_002294.3(LAMP2):c.1082del (p.Lys361fs)
|
rs1436664364
|
|
NM_002294.3(LAMP2):c.183_183+4del
|
|
|
NM_002294.3(LAMP2):c.65-1G>C
|
rs730880496
|
|
NM_002294.3(LAMP2):c.864G>A (p.Val288=)
|
rs2147281364
|
|
NM_002637.4(PHKA1):c.238-2A>T
|
|
|
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro)
|
rs2050437440
|
|
NM_002863.5(PYGL):c.1831G>A (p.Ala611Thr)
|
rs767847163
|
|
NM_003384.2(VRK1):c.318_889+1945del
|
|
|
NM_003384.3(VRK1):c.1069-2A>G
|
|
|
NM_003384.3(VRK1):c.1094del (p.Ser365fs)
|
rs2139845854
|
|
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs)
|
rs2139845924
|
|
NM_003384.3(VRK1):c.160+1G>T
|
rs2139749072
|
|
NM_003384.3(VRK1):c.161-2A>G
|
|
|
NM_003384.3(VRK1):c.216+1G>A
|
|
|
NM_003384.3(VRK1):c.287-2A>C
|
|
|
NM_003384.3(VRK1):c.374+1G>T
|
|
|
NM_003384.3(VRK1):c.402_890-895del
|
|
|
NM_003384.3(VRK1):c.483+1G>A
|
|
|
NM_003384.3(VRK1):c.576+1G>A
|
|
|
NM_003384.3(VRK1):c.710-1G>A
|
|
|
NM_003384.3(VRK1):c.830+1G>C
|
|
|
NM_003384.3(VRK1):c.889+1G>A
|
rs1482696609
|
|
NM_004130.4(GYG1):c.3G>C (p.Met1Ile)
|
rs1365446658
|
|
NM_004130.4(GYG1):c.482-1G>C
|
|
|
NM_004130.4(GYG1):c.7+2T>C
|
|
|
NM_005327.7(HADH):c.100G>C (p.Gly34Arg)
|
rs779135938
|
|
NM_005327.7(HADH):c.261+2T>A
|
|
|
NM_005327.7(HADH):c.262-2A>G
|
|
|
NM_005327.7(HADH):c.636+2T>C
|
|
|
NM_005327.7(HADH):c.709+2T>C
|
|
|
NM_005566.4(LDHA):c.126+2T>C
|
|
|
NM_005566.4(LDHA):c.244G>A (p.Asp82Asn)
|
|
|
NM_005609.4(PYGM):c.1092+1G>C
|
rs749560316
|
|
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.1240-2A>G
|
rs1212333772
|
|
NM_005609.4(PYGM):c.1363G>C (p.Gly455Arg)
|
|
|
NM_005609.4(PYGM):c.1403+1dup
|
|
|
NM_005609.4(PYGM):c.1469G>C (p.Arg490Pro)
|
|
|
NM_005609.4(PYGM):c.1519-1G>A
|
rs2135831491
|
|
NM_005609.4(PYGM):c.1620+1G>T
|
|
|
NM_005609.4(PYGM):c.1769-1G>A
|
rs2058357329
|
|
NM_005609.4(PYGM):c.1827+1G>C
|
rs1057517442
|
|
NM_005609.4(PYGM):c.1828-2A>G
|
rs2135829883
|
|
NM_005609.4(PYGM):c.1969+1G>A
|
|
|
NM_005609.4(PYGM):c.1970-2A>C
|
|
|
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)
|
rs119103256
|
|
NM_005609.4(PYGM):c.2057G>A (p.Gly686Glu)
|
|
|
NM_005609.4(PYGM):c.2083G>T (p.Gly695Trp)
|
|
|
NM_005609.4(PYGM):c.2177+1G>A
|
rs751875471
|
|
NM_005609.4(PYGM):c.2177+1G>T
|
|
|
NM_005609.4(PYGM):c.2380-1G>A
|
rs1555133248
|
|
NM_005609.4(PYGM):c.2380-2A>G
|
|
|
NM_005609.4(PYGM):c.244-1G>A
|
rs2135840980
|
|
NM_005609.4(PYGM):c.2T>C (p.Met1Thr)
|
rs2058423391
|
|
NM_005609.4(PYGM):c.415C>G (p.Arg139Gly)
|
|
|
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.470G>T (p.Gly157Val)
|
|
|
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.614G>A (p.Gly205Asp)
|
|
|
NM_005609.4(PYGM):c.660+1G>A
|
rs1555136208
|
|
NM_005609.4(PYGM):c.773-1G>C
|
rs2135836264
|
|
NM_005609.4(PYGM):c.855+1G>A
|
rs2135836123
|
|
NM_005609.4(PYGM):c.856-2A>C
|
rs1565536363
|
|
NM_005908.4(MANBA):c.1112+1G>T
|
|
|
NM_005908.4(MANBA):c.1231-1G>A
|
|
|
NM_005908.4(MANBA):c.1704+1G>T
|
|
|
NM_005908.4(MANBA):c.1705-2A>G
|
|
|
NM_005908.4(MANBA):c.178-2A>G
|
|
|
NM_005908.4(MANBA):c.2015-1G>A
|
|
|
NM_005908.4(MANBA):c.272+2T>C
|
|
|
NM_005908.4(MANBA):c.273-1G>A
|
|
|
NM_005908.4(MANBA):c.378+2T>C
|
|
|
NM_005908.4(MANBA):c.673+1G>A
|
|
|
NM_005908.4(MANBA):c.674-1G>C
|
|
|
NM_005908.4(MANBA):c.674-2A>G
|
|
|
NM_005908.4(MANBA):c.961-2A>C
|
rs1411236177
|
|
NM_006859.4(LIAS):c.218+1G>A
|
|
|
NM_006859.4(LIAS):c.884-1G>A
|
rs201155530
|
|
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)
|
rs119491110
|
|
NM_012434.5(SLC17A5):c.1111+1G>T
|
rs777862172
|
|
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu)
|
rs386833989
|
|
NM_012434.5(SLC17A5):c.169C>T (p.Arg57Cys)
|
rs754150739
|
|
NM_012434.5(SLC17A5):c.1A>G (p.Met1Val)
|
rs1304456183
|
|
NM_012434.5(SLC17A5):c.407A>G (p.Lys136Arg)
|
|
|
NM_012434.5(SLC17A5):c.613+1G>A
|
rs1769124033
|
|
NM_012434.5(SLC17A5):c.700+2T>C
|
rs1440688652
|
|
NM_012434.5(SLC17A5):c.94+1G>A
|
|
|
NM_012434.5(SLC17A5):c.94+2T>A
|
rs1769984400
|
|
NM_012434.5(SLC17A5):c.978+1G>A
|
rs2150099218
|
|
NM_012434.5(SLC17A5):c.979-2A>G
|
rs1554162230
|
|
NM_016042.4(EXOSC3):c.325-1G>T
|
|
|
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)
|
rs672601332
|
|
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr)
|
rs730880978
|
|
NM_016203.4(PRKAG2):c.1201C>G (p.His401Asp)
|
rs878855017
|
|
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His)
|
rs267606976
|
|
NM_016203.4(PRKAG2):c.1591C>T (p.Arg531Trp)
|
rs121908990
|
|
NM_016203.4(PRKAG2):c.1642T>G (p.Ser548Ala)
|
|
|
NM_016203.4(PRKAG2):c.1643C>T (p.Ser548Leu)
|
rs1563131309
|
|
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu)
|
rs193922697
|
|
NM_021957.4(GYS2):c.1062+1G>T
|
rs781511110
|
|
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)
|
rs121918422
|
|
NM_021957.4(GYS2):c.942-2A>G
|
|
|
NM_024989.4(PGAP1):c.1351-2A>G
|
|
|
NM_024989.4(PGAP1):c.2287-1G>A
|
|
|
NM_024989.4(PGAP1):c.2338-2A>C
|
rs1559328283
|
|
NM_033159.4(HYAL1):c.900+1G>A
|
|
|
NM_152419.3(HGSNAT):c.1013-1G>C
|
rs1804147747
|
|
NM_152419.3(HGSNAT):c.118+2T>C
|
rs2130648749
|
|
NM_152419.3(HGSNAT):c.118+5G>A
|
rs1174944521
|
|
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)
|
rs1064795522
|
|
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)
|
rs747616932
|
|
NM_152419.3(HGSNAT):c.1378-2A>G
|
rs2130810560
|
|
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln)
|
rs753355844
|
|
NM_152419.3(HGSNAT):c.1543-2A>G
|
rs1804769861
|
|
NM_152419.3(HGSNAT):c.1614-1G>C
|
|
|
NM_152419.3(HGSNAT):c.1614-2A>T
|
rs1554537807
|
|
NM_152419.3(HGSNAT):c.1621T>A (p.Ser541Thr)
|
rs2130821593
|
|
NM_152419.3(HGSNAT):c.1726+1G>A
|
|
|
NM_152419.3(HGSNAT):c.563+1G>C
|
|
|
NM_152419.3(HGSNAT):c.563+2T>A
|
rs2130722124
|
|
NM_152419.3(HGSNAT):c.564-1G>A
|
|
|
NM_152419.3(HGSNAT):c.634-2A>G
|
|
|
NM_152419.3(HGSNAT):c.744-2A>C
|
|
|
NM_152419.3(HGSNAT):c.773A>G (p.Asn258Ser)
|
rs767574122
|
|
NM_152419.3(HGSNAT):c.818A>T (p.Asn273Ile)
|
|
|
NM_152419.3(HGSNAT):c.820+1G>A
|
|
|
NM_152419.3(HGSNAT):c.847C>T (p.Pro283Ser)
|
rs2130754863
|
|
NM_198586.3(NHLRC1):c.1163_1164del (p.Lys388fs)
|
rs1783731105
|
|
NM_198586.3(NHLRC1):c.137G>A (p.Cys46Tyr)
|
|
|
NM_198586.3(NHLRC1):c.377T>C (p.Leu126Pro)
|
|
|
NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu)
|
rs200559475
|
|
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val)
|
rs1194084403
|
|