|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
|
NM_001164277.2(SLC37A4):c.539C>G (p.Ser180Cys)
|
rs374991345
|
0.03070
|
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00435
|
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
|
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)
|
rs150734270
|
0.00173
|
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
|
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)
|
rs80084721
|
0.00124
|
|
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln)
|
rs142599919
|
0.00096
|
|
NM_002637.4(PHKA1):c.3068G>A (p.Ser1023Asn)
|
rs782344973
|
0.00095
|
|
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu)
|
rs149322865
|
0.00087
|
|
NM_033159.4(HYAL1):c.679G>A (p.Ala227Thr)
|
rs143176318
|
0.00082
|
|
NM_000027.4(AGA):c.376C>G (p.Leu126Val)
|
rs200420067
|
0.00078
|
|
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)
|
rs138169215
|
0.00077
|
|
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu)
|
rs142320636
|
0.00077
|
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
|
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
|
NM_000181.4(GUSB):c.764T>A (p.Leu255Gln)
|
rs140709901
|
0.00063
|
|
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)
|
rs139734064
|
0.00059
|
|
NM_000292.3(PHKA2):c.785T>G (p.Ile262Ser)
|
rs145406549
|
0.00055
|
|
NM_002103.5(GYS1):c.1324C>G (p.Pro442Ala)
|
rs142951866
|
0.00054
|
|
NM_006765.4(TUSC3):c.38C>T (p.Ala13Val)
|
rs200808372
|
0.00054
|
|
NM_001008216.2(GALE):c.611T>C (p.Ile204Thr)
|
rs143924570
|
0.00053
|
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00052
|
|
NM_000507.4(FBP1):c.275C>T (p.Thr92Met)
|
rs141270413
|
0.00052
|
|
NM_000293.3(PHKB):c.436A>G (p.Thr146Ala)
|
rs146558295
|
0.00051
|
|
NM_000925.4(PDHB):c.701-3C>T
|
rs377063331
|
0.00051
|
|
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe)
|
rs181879065
|
0.00051
|
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
|
NM_000925.4(PDHB):c.1029A>G (p.Ile343Met)
|
rs149830613
|
0.00050
|
|
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)
|
rs370424471
|
0.00048
|
|
NM_000293.3(PHKB):c.2195A>G (p.Asn732Ser)
|
rs201360702
|
0.00048
|
|
NM_001014436.3(DBNL):c.*4099G>A
|
rs201133395
|
0.00048
|
|
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala)
|
rs145464176
|
0.00048
|
|
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
|
rs148839812
|
0.00046
|
|
NM_016219.5(MAN1B1):c.1744C>T (p.Arg582Cys)
|
rs142406504
|
0.00046
|
|
NM_033159.4(HYAL1):c.1290G>C (p.Glu430Asp)
|
rs147678727
|
0.00046
|
|
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr)
|
rs146704780
|
0.00045
|
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
|
NM_002076.4(GNS):c.876-3C>T
|
rs73323465
|
0.00045
|
|
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His)
|
rs139041112
|
0.00044
|
|
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)
|
rs150763745
|
0.00043
|
|
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu)
|
rs375754042
|
0.00042
|
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
|
NM_001040716.2(PC):c.486G>A (p.Ala162=)
|
rs142416378
|
0.00041
|
|
NM_004130.4(GYG1):c.68G>A (p.Gly23Glu)
|
rs112622137
|
0.00041
|
|
NM_031229.4(RBCK1):c.173G>C (p.Trp58Ser)
|
rs143804674
|
0.00041
|
|
NM_053013.4(ENO3):c.865+3G>A
|
rs147327991
|
0.00041
|
|
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)
|
rs144038427
|
0.00039
|
|
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile)
|
rs782644732
|
0.00039
|
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
|
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val)
|
rs199608903
|
0.00039
|
|
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser)
|
rs145881639
|
0.00039
|
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
|
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)
|
rs201346206
|
0.00038
|
|
NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser)
|
rs138667242
|
0.00038
|
|
NM_000147.5(FUCA1):c.1274G>A (p.Gly425Glu)
|
rs150422575
|
0.00037
|
|
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile)
|
rs140060360
|
0.00037
|
|
NM_000293.3(PHKB):c.1286G>A (p.Arg429Gln)
|
rs141379798
|
0.00036
|
|
NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu)
|
rs200662873
|
0.00036
|
|
NM_002103.5(GYS1):c.2014G>A (p.Gly672Ser)
|
rs145448665
|
0.00036
|
|
NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys)
|
rs138752449
|
0.00036
|
|
NM_000158.4(GBE1):c.2056T>C (p.Tyr686His)
|
rs754607405
|
0.00035
|
|
NM_000199.5(SGSH):c.67C>T (p.Arg23Trp)
|
rs529571746
|
0.00035
|
|
NM_002103.5(GYS1):c.213G>C (p.Gln71His)
|
rs200998100
|
0.00035
|
|
NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp)
|
rs151279562
|
0.00035
|
|
NM_002637.4(PHKA1):c.2756G>T (p.Arg919Leu)
|
rs1349683999
|
0.00035
|
|
NM_005327.7(HADH):c.349G>C (p.Val117Leu)
|
rs146732064
|
0.00035
|
|
NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser)
|
rs36086547
|
0.00035
|
|
NM_000027.4(AGA):c.792G>A (p.Met264Ile)
|
rs369967348
|
0.00034
|
|
NM_000290.4(PGAM2):c.501G>T (p.Trp167Cys)
|
rs150235677
|
0.00034
|
|
NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr)
|
rs144813238
|
0.00034
|
|
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr)
|
rs142008108
|
0.00034
|
|
NM_005609.4(PYGM):c.761A>T (p.Asn254Ile)
|
rs149067043
|
0.00034
|
|
NM_031229.4(RBCK1):c.550G>A (p.Gly184Arg)
|
rs147407444
|
0.00034
|
|
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly)
|
rs181735466
|
0.00032
|
|
NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln)
|
rs140545494
|
0.00032
|
|
NM_005609.4(PYGM):c.1885G>T (p.Asp629Tyr)
|
rs137986928
|
0.00032
|
|
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser)
|
rs200632199
|
0.00032
|
|
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn)
|
rs200033151
|
0.00031
|
|
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)
|
rs149661915
|
0.00031
|
|
NM_016219.5(MAN1B1):c.26G>C (p.Ser9Thr)
|
rs140568381
|
0.00031
|
|
NM_031229.4(RBCK1):c.703G>A (p.Glu235Lys)
|
rs201030033
|
0.00031
|
|
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu)
|
rs143194967
|
0.00031
|
|
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys)
|
rs142702682
|
0.00030
|
|
NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser)
|
rs200214191
|
0.00030
|
|
NM_000027.4(AGA):c.979A>G (p.Ser327Gly)
|
rs369035792
|
0.00029
|
|
NM_000293.3(PHKB):c.1631A>G (p.Asn544Ser)
|
rs139383341
|
0.00029
|
|
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr)
|
rs144407534
|
0.00029
|
|
NM_005566.4(LDHA):c.8C>T (p.Thr3Ile)
|
rs200251957
|
0.00029
|
|
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp)
|
rs147428514
|
0.00029
|
|
NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met)
|
rs200428790
|
0.00029
|
|
NM_021957.4(GYS2):c.1644C>T (p.Tyr548=)
|
rs146660038
|
0.00029
|
|
NM_000027.4(AGA):c.806+3A>G
|
rs368144874
|
0.00028
|
|
NM_000293.3(PHKB):c.718G>A (p.Gly240Ser)
|
rs147426858
|
0.00028
|
|
NM_002863.5(PYGL):c.1828-9T>A
|
rs372338710
|
0.00027
|
|
NM_000512.5(GALNS):c.1482+4A>G
|
rs377407678
|
0.00026
|
|
NM_000642.3(AGL):c.854G>A (p.Arg285Gln)
|
rs144817648
|
0.00026
|
|
NM_002637.4(PHKA1):c.890T>C (p.Leu297Pro)
|
rs138195744
|
0.00026
|
|
NM_016219.5(MAN1B1):c.862G>A (p.Gly288Ser)
|
rs138090529
|
0.00026
|
|
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)
|
rs202051939
|
0.00025
|
|
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln)
|
rs145390070
|
0.00025
|
|
NM_001243177.4(ALDOA):c.679C>T (p.Arg227Cys)
|
rs374042346
|
0.00025
|
|
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys)
|
rs144857480
|
0.00024
|
|
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg)
|
rs138183791
|
0.00024
|
|
NM_000293.3(PHKB):c.781T>G (p.Ser261Ala)
|
rs137946010
|
0.00024
|
|
NM_000293.3(PHKB):c.8G>C (p.Gly3Ala)
|
rs145047641
|
0.00024
|
|
NM_002863.5(PYGL):c.1274G>A (p.Arg425His)
|
rs2228499
|
0.00024
|
|
NM_016219.5(MAN1B1):c.881C>T (p.Ala294Val)
|
rs144767615
|
0.00024
|
|
NM_000152.5(GAA):c.1310G>A (p.Arg437His)
|
rs150868652
|
0.00023
|
|
NM_000293.3(PHKB):c.2593C>G (p.Pro865Ala)
|
rs142281844
|
0.00023
|
|
NM_000147.5(FUCA1):c.260C>T (p.Pro87Leu)
|
rs138378067
|
0.00022
|
|
NM_000199.5(SGSH):c.676G>A (p.Val226Ile)
|
rs145967352
|
0.00022
|
|
NM_000289.6(PFKM):c.2201A>G (p.His734Arg)
|
rs141570669
|
0.00022
|
|
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr)
|
rs202177461
|
0.00022
|
|
NM_000642.3(AGL):c.1226T>G (p.Leu409Arg)
|
rs200459772
|
0.00022
|
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00022
|
|
NM_002103.5(GYS1):c.395A>G (p.Glu132Gly)
|
rs183816843
|
0.00022
|
|
NM_053013.4(ENO3):c.154G>A (p.Gly52Arg)
|
rs757769893
|
0.00022
|
|
NM_000035.4(ALDOB):c.334G>A (p.Gly112Arg)
|
rs373330514
|
0.00021
|
|
NM_000108.5(DLD):c.470C>G (p.Thr157Ser)
|
rs142232609
|
0.00021
|
|
NM_000155.3(GALT):c.-121C>G
|
rs368046870
|
0.00021
|
|
NM_000289.6(PFKM):c.820A>G (p.Ile274Val)
|
rs142868881
|
0.00021
|
|
NM_000642.3(AGL):c.622T>C (p.Trp208Arg)
|
rs202084554
|
0.00021
|
|
NM_001739.2(CA5A):c.575C>T (p.Thr192Met)
|
rs145215237
|
0.00021
|
|
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys)
|
rs140692906
|
0.00021
|
|
NM_016042.4(EXOSC3):c.322C>T (p.Arg108Trp)
|
rs201178873
|
0.00021
|
|
NM_053013.4(ENO3):c.115G>A (p.Ala39Thr)
|
rs141103742
|
0.00021
|
|
NM_198586.3(NHLRC1):c.178C>T (p.His60Tyr)
|
rs539307365
|
0.00021
|
|
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val)
|
rs202150579
|
0.00020
|
|
NM_000289.6(PFKM):c.52A>G (p.Ile18Val)
|
rs150405056
|
0.00020
|
|
NM_053013.4(ENO3):c.737T>C (p.Val246Ala)
|
rs200479387
|
0.00020
|
|
NM_000027.4(AGA):c.286A>T (p.Thr96Ser)
|
rs184672077
|
0.00019
|
|
NM_000151.4(G6PC1):c.81G>C (p.Gln27His)
|
rs371611000
|
0.00019
|
|
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala)
|
rs143321486
|
0.00019
|
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
0.00019
|
|
NM_000152.5(GAA):c.913G>A (p.Gly305Arg)
|
rs200154987
|
0.00019
|
|
NM_000308.4(CTSA):c.1088+3G>A
|
rs372830379
|
0.00019
|
|
NM_000343.4(SLC5A1):c.1066G>A (p.Gly356Ser)
|
rs141412905
|
0.00019
|
|
NM_001164277.2(SLC37A4):c.857G>A (p.Arg286Gln)
|
rs548684318
|
0.00019
|
|
NM_002103.5(GYS1):c.1890G>A (p.Ala630=)
|
rs142457302
|
0.00019
|
|
NM_024989.4(PGAP1):c.1953G>A (p.Gly651=)
|
rs148349860
|
0.00019
|
|
NM_024989.4(PGAP1):c.2642A>G (p.Lys881Arg)
|
rs375115788
|
0.00019
|
|
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp)
|
rs121918403
|
0.00019
|
|
NM_000262.3(NAGA):c.697G>A (p.Val233Met)
|
rs201294991
|
0.00018
|
|
NM_000293.3(PHKB):c.1568T>C (p.Val523Ala)
|
rs774398701
|
0.00018
|
|
NM_000512.5(GALNS):c.1078G>A (p.Asp360Asn)
|
rs202031547
|
0.00018
|
|
NM_001739.2(CA5A):c.433G>A (p.Val145Met)
|
rs138476706
|
0.00018
|
|
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys)
|
rs765844107
|
0.00018
|
|
NM_005908.4(MANBA):c.2633T>C (p.Ile878Thr)
|
rs145756079
|
0.00018
|
|
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser)
|
rs371273730
|
0.00018
|
|
NM_000152.5(GAA):c.1320G>T (p.Met440Ile)
|
rs550837627
|
0.00017
|
|
NM_000158.4(GBE1):c.278C>T (p.Pro93Leu)
|
rs200746350
|
0.00017
|
|
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe)
|
rs187833337
|
0.00017
|
|
NM_000262.3(NAGA):c.493C>T (p.Arg165Trp)
|
rs200080569
|
0.00017
|
|
NM_000263.4(NAGLU):c.1880C>T (p.Ala627Val)
|
rs140905880
|
0.00017
|
|
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln)
|
rs146456266
|
0.00017
|
|
NM_000293.3(PHKB):c.2540C>T (p.Ala847Val)
|
rs374731360
|
0.00017
|
|
NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln)
|
rs538127151
|
0.00017
|
|
NM_001370658.1(BTD):c.1310T>C (p.Val437Ala)
|
rs149690919
|
0.00017
|
|
NM_005327.7(HADH):c.809C>T (p.Thr270Met)
|
rs577954688
|
0.00017
|
|
NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu)
|
rs147023714
|
0.00017
|
|
NM_005908.4(MANBA):c.2416-3C>T
|
rs375466384
|
0.00017
|
|
NM_152419.3(HGSNAT):c.812G>A (p.Ser271Asn)
|
rs554146681
|
0.00017
|
|
NM_000046.5(ARSB):c.1159C>T (p.Pro387Ser)
|
rs145553034
|
0.00016
|
|
NM_000046.5(ARSB):c.1546G>A (p.Ala516Thr)
|
rs201234153
|
0.00016
|
|
NM_000046.5(ARSB):c.312+4C>T
|
rs770927433
|
0.00016
|
|
NM_000108.5(DLD):c.860G>A (p.Gly287Glu)
|
rs202125745
|
0.00016
|
|
NM_000181.4(GUSB):c.1291G>A (p.Glu431Lys)
|
rs143040697
|
0.00016
|
|
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)
|
rs138618819
|
0.00016
|
|
NM_000203.5(IDUA):c.1191T>G (p.Asp397Glu)
|
rs1462850727
|
0.00016
|
|
NM_000308.4(CTSA):c.160C>T (p.Leu54Phe)
|
rs138615064
|
0.00016
|
|
NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys)
|
rs201800716
|
0.00016
|
|
NM_000642.3(AGL):c.4052A>G (p.Lys1351Arg)
|
rs41285740
|
0.00016
|
|
NM_001040716.2(PC):c.2804C>T (p.Ala935Val)
|
rs139540331
|
0.00016
|
|
NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr)
|
rs144693278
|
0.00016
|
|
NM_001360016.2(G6PD):c.1152G>C (p.Gln384His)
|
rs368832453
|
0.00016
|
|
NM_001931.5(DLAT):c.572C>T (p.Ala191Val)
|
rs200500508
|
0.00016
|
|
NM_002076.4(GNS):c.5G>C (p.Arg2Pro)
|
rs759075764
|
0.00016
|
|
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn)
|
rs138461745
|
0.00016
|
|
NM_004130.4(GYG1):c.601T>G (p.Phe201Val)
|
rs142318183
|
0.00016
|
|
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr)
|
rs200688234
|
0.00016
|
|
NM_006765.4(TUSC3):c.19C>T (p.Pro7Ser)
|
rs201741917
|
0.00016
|
|
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile)
|
rs141723499
|
0.00016
|
|
NM_006859.4(LIAS):c.393+4G>A
|
rs368453789
|
0.00016
|
|
NM_016219.5(MAN1B1):c.514C>T (p.Pro172Ser)
|
rs142144025
|
0.00016
|
|
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)
|
rs372961495
|
0.00016
|
|
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn)
|
rs371314015
|
0.00015
|
|
NM_000199.5(SGSH):c.276C>G (p.His92Gln)
|
rs201478799
|
0.00015
|
|
NM_000203.5(IDUA):c.406G>A (p.Ala136Thr)
|
rs112571714
|
0.00015
|
|
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp)
|
rs200981229
|
0.00015
|
|
NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys)
|
rs375330016
|
0.00015
|
|
NM_001040716.2(PC):c.786G>T (p.Glu262Asp)
|
rs200030109
|
0.00015
|
|
NM_002103.5(GYS1):c.722G>A (p.Arg241Gln)
|
rs192597341
|
0.00015
|
|
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp)
|
rs730880478
|
0.00015
|
|
NM_002637.4(PHKA1):c.3443T>G (p.Ile1148Ser)
|
rs782365144
|
0.00015
|
|
NM_000027.4(AGA):c.793C>T (p.Arg265Cys)
|
rs146710132
|
0.00014
|
|
NM_000108.5(DLD):c.74A>C (p.Gln25Pro)
|
rs61749951
|
0.00014
|
|
NM_000152.5(GAA):c.1888+5G>T
|
rs528282884
|
0.00014
|
|
NM_000155.4(GALT):c.1132A>G (p.Ile378Val)
|
rs111033819
|
0.00014
|
|
NM_000158.4(GBE1):c.1803G>A (p.Gln601=)
|
rs368793136
|
0.00014
|
|
NM_000158.4(GBE1):c.429+5T>G
|
rs373240805
|
0.00014
|
|
NM_000404.4(GLB1):c.40G>C (p.Val14Leu)
|
rs376500233
|
0.00014
|
|
NM_000528.4(MAN2B1):c.1961A>G (p.Asp654Gly)
|
rs191035238
|
0.00014
|
|
NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys)
|
rs139366493
|
0.00014
|
|
NM_000528.4(MAN2B1):c.630+6A>T
|
rs372899975
|
0.00014
|
|
NM_000528.4(MAN2B1):c.718C>T (p.Arg240Trp)
|
rs201448121
|
0.00014
|
|
NM_000642.3(AGL):c.1846A>G (p.Ile616Val)
|
rs371115206
|
0.00014
|
|
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser)
|
rs139950099
|
0.00014
|
|
NM_000642.3(AGL):c.2657C>T (p.Pro886Leu)
|
rs149331873
|
0.00014
|
|
NM_000642.3(AGL):c.4076G>A (p.Arg1359His)
|
rs201533636
|
0.00014
|
|
NM_001008216.2(GALE):c.376A>G (p.Asn126Asp)
|
rs771656737
|
0.00014
|
|
NM_001040716.2(PC):c.190G>A (p.Val64Ile)
|
rs35698729
|
0.00014
|
|
NM_001739.2(CA5A):c.615T>A (p.His205Gln)
|
rs139816901
|
0.00014
|
|
NM_001931.5(DLAT):c.1406A>G (p.Glu469Gly)
|
rs376141049
|
0.00014
|
|
NM_002103.5(GYS1):c.1390G>A (p.Gly464Ser)
|
rs200862074
|
0.00014
|
|
NM_002103.5(GYS1):c.254C>T (p.Pro85Leu)
|
rs140774115
|
0.00014
|
|
NM_005908.4(MANBA):c.1499G>A (p.Arg500His)
|
rs147542645
|
0.00014
|
|
NM_005908.4(MANBA):c.1912C>T (p.Arg638Cys)
|
rs746340334
|
0.00014
|
|
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His)
|
rs374247020
|
0.00014
|
|
NM_021957.4(GYS2):c.1924G>A (p.Val642Ile)
|
rs367881123
|
0.00014
|
|
NM_031229.4(RBCK1):c.1336C>T (p.Arg446Cys)
|
rs372540581
|
0.00014
|
|
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg)
|
rs118204430
|
0.00013
|
|
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)
|
rs145078268
|
0.00013
|
|
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile)
|
rs200364654
|
0.00013
|
|
NM_000152.5(GAA):c.546+3G>A
|
rs371405931
|
0.00013
|
|
NM_000199.5(SGSH):c.19G>A (p.Ala7Thr)
|
rs548145029
|
0.00013
|
|
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)
|
rs121965025
|
0.00013
|
|
NM_000293.3(PHKB):c.430C>T (p.Arg144Cys)
|
rs762531075
|
0.00013
|
|
NM_000308.4(CTSA):c.365A>G (p.Asn122Ser)
|
rs199735882
|
0.00013
|
|
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr)
|
rs139760182
|
0.00013
|
|
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu)
|
rs766513928
|
0.00013
|
|
NM_000528.4(MAN2B1):c.2104C>T (p.Arg702Cys)
|
rs988974694
|
0.00013
|
|
NM_000528.4(MAN2B1):c.28G>A (p.Val10Ile)
|
rs558131886
|
0.00013
|
|
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu)
|
rs373799322
|
0.00013
|
|
NM_001008216.2(GALE):c.140A>C (p.Glu47Ala)
|
rs367768055
|
0.00013
|
|
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile)
|
rs575286749
|
0.00013
|
|
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser)
|
rs538159086
|
0.00013
|
|
NM_002294.3(LAMP2):c.1093+2532G>A
|
rs730880488
|
0.00013
|
|
NM_002637.4(PHKA1):c.3350G>A (p.Arg1117His)
|
rs143802511
|
0.00013
|
|
NM_004130.4(GYG1):c.284A>G (p.Tyr95Cys)
|
rs139797816
|
0.00013
|
|
NM_004130.4(GYG1):c.883G>C (p.Asp295His)
|
rs202085215
|
0.00013
|
|
NM_004130.4(GYG1):c.961C>T (p.Arg321Trp)
|
rs138596591
|
0.00013
|
|
NM_005609.4(PYGM):c.2203C>T (p.Arg735Cys)
|
rs559363120
|
0.00013
|
|
NM_005908.4(MANBA):c.1573A>G (p.Ser525Gly)
|
rs138216864
|
0.00013
|
|
NM_016219.5(MAN1B1):c.213C>G (p.Cys71Trp)
|
rs575361734
|
0.00013
|
|
NM_031229.4(RBCK1):c.1390C>T (p.Arg464Cys)
|
rs145423115
|
0.00013
|
|
NM_000147.5(FUCA1):c.106C>T (p.Arg36Cys)
|
rs201209052
|
0.00012
|
|
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys)
|
rs375433002
|
0.00012
|
|
NM_000152.5(GAA):c.362A>G (p.Gln121Arg)
|
rs150284874
|
0.00012
|
|
NM_000181.4(GUSB):c.918G>T (p.Gln306His)
|
rs375828604
|
0.00012
|
|
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys)
|
rs774921979
|
0.00012
|
|
NM_000290.4(PGAM2):c.16C>G (p.Leu6Val)
|
rs750344114
|
0.00012
|
|
NM_000293.3(PHKB):c.1741G>A (p.Asp581Asn)
|
rs202127217
|
0.00012
|
|
NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr)
|
rs147453689
|
0.00012
|
|
NM_000507.4(FBP1):c.619G>C (p.Gly207Arg)
|
rs766175621
|
0.00012
|
|
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met)
|
rs148134639
|
0.00012
|
|
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)
|
rs141131444
|
0.00012
|
|
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala)
|
rs144901367
|
0.00012
|
|
NM_002103.5(GYS1):c.553G>A (p.Gly185Ser)
|
rs201248933
|
0.00012
|
|
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp)
|
rs374963946
|
0.00012
|
|
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu)
|
rs121918404
|
0.00012
|
|
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys)
|
rs201397971
|
0.00011
|
|
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile)
|
rs768385469
|
0.00011
|
|
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln)
|
rs140376273
|
0.00011
|
|
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp)
|
rs536478616
|
0.00011
|
|
NM_000199.5(SGSH):c.1049C>T (p.Pro350Leu)
|
rs144035603
|
0.00011
|
|
NM_000203.5(IDUA):c.1343C>A (p.Ala448Asp)
|
rs565375837
|
0.00011
|
|
NM_000262.3(NAGA):c.230T>C (p.Ile77Thr)
|
rs375884363
|
0.00011
|
|
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser)
|
rs764996618
|
0.00011
|
|
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser)
|
rs141550921
|
0.00011
|
|
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu)
|
rs199792389
|
0.00011
|
|
NM_000292.3(PHKA2):c.1927G>C (p.Asp643His)
|
rs369400689
|
0.00011
|
|
NM_000293.3(PHKB):c.893C>T (p.Pro298Leu)
|
rs558898797
|
0.00011
|
|
NM_000308.4(CTSA):c.948+5G>A
|
rs201180372
|
0.00011
|
|
NM_000343.4(SLC5A1):c.312+3G>A
|
rs200776237
|
0.00011
|
|
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp)
|
rs201807974
|
0.00011
|
|
NM_000528.4(MAN2B1):c.516G>A (p.Met172Ile)
|
rs144119421
|
0.00011
|
|
NM_000642.3(AGL):c.341G>A (p.Arg114His)
|
rs150146360
|
0.00011
|
|
NM_000642.3(AGL):c.4462C>T (p.His1488Tyr)
|
rs374651629
|
0.00011
|
|
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser)
|
rs141035459
|
0.00011
|
|
NM_001040716.2(PC):c.1771G>A (p.Ala591Thr)
|
rs139795235
|
0.00011
|
|
NM_001040716.2(PC):c.3473G>A (p.Arg1158His)
|
rs149054698
|
0.00011
|
|
NM_001739.2(CA5A):c.555G>A (p.Lys185=)
|
rs147623570
|
0.00011
|
|
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser)
|
rs200672892
|
0.00011
|
|
NM_002637.4(PHKA1):c.2483A>G (p.Tyr828Cys)
|
rs144583035
|
0.00011
|
|
NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile)
|
rs147863207
|
0.00011
|
|
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr)
|
rs371024271
|
0.00011
|
|
NM_005609.4(PYGM):c.1272C>A (p.Asp424Glu)
|
rs372851103
|
0.00011
|
|
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys)
|
rs143177272
|
0.00011
|
|
NM_005908.4(MANBA):c.1913G>A (p.Arg638His)
|
rs781584789
|
0.00011
|
|
NM_016219.5(MAN1B1):c.586C>T (p.Arg196Cys)
|
rs373430024
|
0.00011
|
|
NM_021957.4(GYS2):c.1672C>T (p.Arg558Cys)
|
rs148617918
|
0.00011
|
|
NM_024989.4(PGAP1):c.55T>C (p.Phe19Leu)
|
rs749719250
|
0.00011
|
|
NM_031229.4(RBCK1):c.1040C>G (p.Pro347Arg)
|
rs370963132
|
0.00011
|
|
NM_031229.4(RBCK1):c.1090C>T (p.Arg364Cys)
|
rs144018482
|
0.00011
|
|
NM_000046.5(ARSB):c.393G>T (p.Gln131His)
|
rs139174369
|
0.00010
|
|
NM_000147.5(FUCA1):c.34G>T (p.Gly12Cys)
|
rs530854024
|
0.00010
|
|
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg)
|
rs550065979
|
0.00010
|
|
NM_000152.5(GAA):c.2122C>T (p.His708Tyr)
|
rs149916476
|
0.00010
|
|
NM_000152.5(GAA):c.725C>A (p.Ala242Glu)
|
rs745861849
|
0.00010
|
|
NM_000152.5(GAA):c.76C>T (p.Leu26Phe)
|
rs149761650
|
0.00010
|
|
NM_000152.5(GAA):c.851C>G (p.Ala284Gly)
|
rs147569830
|
0.00010
|
|
NM_000155.4(GALT):c.864C>T (p.Asn288=)
|
rs372134800
|
0.00010
|
|
NM_000158.4(GBE1):c.2036G>A (p.Arg679His)
|
rs758188572
|
0.00010
|
|
NM_000158.4(GBE1):c.584G>A (p.Arg195Gln)
|
rs368555635
|
0.00010
|
|
NM_000199.5(SGSH):c.730G>A (p.Gly244Ser)
|
rs773480617
|
0.00010
|
|
NM_000199.5(SGSH):c.964A>G (p.Ile322Val)
|
rs151243903
|
0.00010
|
|
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu)
|
rs377684568
|
0.00010
|
|
NM_000290.4(PGAM2):c.194G>A (p.Arg65His)
|
rs200420235
|
0.00010
|
|
NM_000294.3(PHKG2):c.926G>A (p.Arg309Gln)
|
rs572115942
|
0.00010
|
|
NM_000308.4(CTSA):c.977G>A (p.Arg326His)
|
rs554534522
|
0.00010
|
|
NM_000507.4(FBP1):c.14C>A (p.Ala5Glu)
|
rs759615686
|
0.00010
|
|
NM_000528.4(MAN2B1):c.922C>T (p.Arg308Cys)
|
rs185112259
|
0.00010
|
|
NM_000642.3(AGL):c.1321A>G (p.Met441Val)
|
rs753035763
|
0.00010
|
|
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg)
|
rs148930543
|
0.00010
|
|
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr)
|
rs542486536
|
0.00010
|
|
NM_001164277.2(SLC37A4):c.71A>G (p.Tyr24Cys)
|
rs569831771
|
0.00010
|
|
NM_001164277.2(SLC37A4):c.871+6C>T
|
rs377101167
|
0.00010
|
|
NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln)
|
rs782703235
|
0.00010
|
|
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)
|
rs137877018
|
0.00010
|
|
NM_002076.4(GNS):c.49C>T (p.Arg17Cys)
|
rs574024349
|
0.00010
|
|
NM_002637.4(PHKA1):c.2063G>A (p.Arg688Gln)
|
rs201234013
|
0.00010
|
|
NM_005327.7(HADH):c.676T>C (p.Tyr226His)
|
rs146036912
|
0.00010
|
|
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser)
|
rs752622662
|
0.00010
|
|
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys)
|
rs200481790
|
0.00010
|
|
NM_005609.4(PYGM):c.2447G>A (p.Arg816His)
|
rs139230055
|
0.00010
|
|
NM_005609.4(PYGM):c.284C>T (p.Thr95Met)
|
rs375233791
|
0.00010
|
|
NM_005609.4(PYGM):c.7C>T (p.Arg3Trp)
|
rs199565370
|
0.00010
|
|
NM_005908.4(MANBA):c.1025A>G (p.Tyr342Cys)
|
rs771658981
|
0.00010
|
|
NM_021957.4(GYS2):c.1906T>C (p.Tyr636His)
|
rs143798221
|
0.00010
|
|
NM_031229.4(RBCK1):c.1189G>A (p.Val397Ile)
|
rs538961301
|
0.00010
|
|
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met)
|
rs367831580
|
0.00010
|
|
NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro)
|
rs1025643467
|
0.00010
|
|
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val)
|
rs202210810
|
0.00009
|
|
NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala)
|
rs769542268
|
0.00009
|
|
NM_000046.5(ARSB):c.181G>A (p.Gly61Ser)
|
rs375647920
|
0.00009
|
|
NM_000147.5(FUCA1):c.11C>T (p.Pro4Leu)
|
rs747889861
|
0.00009
|
|
NM_000152.5(GAA):c.1630G>A (p.Val544Met)
|
rs567695610
|
0.00009
|
|
NM_000152.5(GAA):c.546+6C>T
|
rs375727055
|
0.00009
|
|
NM_000152.5(GAA):c.682G>A (p.Gly228Ser)
|
rs747150907
|
0.00009
|
|
NM_000158.4(GBE1):c.496C>T (p.Arg166Cys)
|
rs376546162
|
0.00009
|
|
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp)
|
rs751604358
|
0.00009
|
|
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln)
|
rs377605690
|
0.00009
|
|
NM_000199.5(SGSH):c.349C>T (p.Arg117Cys)
|
rs772732363
|
0.00009
|
|
NM_000199.5(SGSH):c.746-15G>A
|
rs373302525
|
0.00009
|
|
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)
|
rs201268637
|
0.00009
|
|
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
|
rs369970264
|
0.00009
|
|
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr)
|
rs202115696
|
0.00009
|
|
NM_000263.4(NAGLU):c.1474G>A (p.Ala492Thr)
|
rs930823153
|
0.00009
|
|
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met)
|
rs777479452
|
0.00009
|
|
NM_000293.3(PHKB):c.1307G>A (p.Arg436His)
|
rs143602657
|
0.00009
|
|
NM_000293.3(PHKB):c.3122G>A (p.Arg1041Gln)
|
rs372327608
|
0.00009
|
|
NM_000294.3(PHKG2):c.83A>T (p.Asp28Val)
|
rs777228104
|
0.00009
|
|
NM_000308.4(CTSA):c.920G>A (p.Arg307His)
|
rs199808601
|
0.00009
|
|
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile)
|
rs121909741
|
0.00009
|
|
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met)
|
rs751917665
|
0.00009
|
|
NM_000507.4(FBP1):c.664C>T (p.Pro222Ser)
|
rs1373961798
|
0.00009
|
|
NM_000512.5(GALNS):c.1375G>A (p.Ala459Thr)
|
rs750739641
|
0.00009
|
|
NM_000528.4(MAN2B1):c.1417G>A (p.Glu473Lys)
|
rs749371047
|
0.00009
|
|
NM_000528.4(MAN2B1):c.1622A>G (p.Asn541Ser)
|
rs564296108
|
0.00009
|
|
NM_000528.4(MAN2B1):c.19G>C (p.Ala7Pro)
|
rs199673719
|
0.00009
|
|
NM_000528.4(MAN2B1):c.2355+5C>G
|
rs770412137
|
0.00009
|
|
NM_000642.3(AGL):c.1424G>T (p.Gly475Val)
|
rs538916479
|
0.00009
|
|
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala)
|
rs761479006
|
0.00009
|
|
NM_000642.3(AGL):c.3026C>T (p.Ala1009Val)
|
rs200129247
|
0.00009
|
|
NM_000642.3(AGL):c.3400G>A (p.Gly1134Ser)
|
rs146615251
|
0.00009
|
|
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp)
|
rs370797337
|
0.00009
|
|
NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr)
|
rs760699630
|
0.00009
|
|
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly)
|
rs761264157
|
0.00009
|
|
NM_000642.3(AGL):c.766C>T (p.Arg256Cys)
|
rs757347826
|
0.00009
|
|
NM_001008216.2(GALE):c.755T>C (p.Ile252Thr)
|
rs148834880
|
0.00009
|
|
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu)
|
rs370839177
|
0.00009
|
|
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys)
|
rs776535574
|
0.00009
|
|
NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln)
|
rs782065240
|
0.00009
|
|
NM_001739.2(CA5A):c.123G>T (p.Trp41Cys)
|
rs374378501
|
0.00009
|
|
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn)
|
rs573897595
|
0.00009
|
|
NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp)
|
rs369032377
|
0.00009
|
|
NM_002637.4(PHKA1):c.1727C>A (p.Thr576Lys)
|
rs1474761630
|
0.00009
|
|
NM_003384.3(VRK1):c.440A>G (p.Lys147Arg)
|
rs149350224
|
0.00009
|
|
NM_004130.4(GYG1):c.788A>C (p.Gln263Pro)
|
rs746892694
|
0.00009
|
|
NM_005609.4(PYGM):c.100C>T (p.Arg34Trp)
|
rs531748591
|
0.00009
|
|
NM_005609.4(PYGM):c.1766A>G (p.Asn589Ser)
|
rs140016055
|
0.00009
|
|
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser)
|
rs115690781
|
0.00009
|
|
NM_005908.4(MANBA):c.1511C>T (p.Thr504Met)
|
rs370002189
|
0.00009
|
|
NM_005908.4(MANBA):c.1735A>G (p.Ser579Gly)
|
rs376879093
|
0.00009
|
|
NM_006859.4(LIAS):c.20A>T (p.Asp7Val)
|
rs368786581
|
0.00009
|
|
NM_012434.5(SLC17A5):c.703A>T (p.Thr235Ser)
|
rs747385791
|
0.00009
|
|
NM_016219.5(MAN1B1):c.1753G>A (p.Val585Met)
|
rs150734795
|
0.00009
|
|
NM_024989.4(PGAP1):c.692G>A (p.Arg231Gln)
|
rs368553507
|
0.00009
|
|
NM_031229.4(RBCK1):c.1337G>A (p.Arg446His)
|
rs150032325
|
0.00009
|
|
NM_033159.4(HYAL1):c.1201C>T (p.Arg401Trp)
|
rs202067357
|
0.00009
|
|
NM_053013.4(ENO3):c.240+8G>A
|
rs768540512
|
0.00009
|
|
NM_053013.4(ENO3):c.934A>C (p.Asn312His)
|
rs145968147
|
0.00009
|
|
NM_000035.4(ALDOB):c.590A>G (p.His197Arg)
|
rs368140282
|
0.00008
|
|
NM_000147.5(FUCA1):c.484C>T (p.Arg162Trp)
|
rs375270869
|
0.00008
|
|
NM_000202.8(IDS):c.1144G>C (p.Asp382His)
|
rs370125505
|
0.00008
|
|
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu)
|
rs199554923
|
0.00008
|
|
NM_000203.5(IDUA):c.767T>C (p.Leu256Pro)
|
rs373037758
|
0.00008
|
|
NM_000262.3(NAGA):c.871G>A (p.Ala291Thr)
|
rs372146176
|
0.00008
|
|
NM_000289.6(PFKM):c.1992+5G>A
|
rs180864041
|
0.00008
|
|
NM_000293.3(PHKB):c.1387G>C (p.Asp463His)
|
rs150683838
|
0.00008
|
|
NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr)
|
rs535265672
|
0.00008
|
|
NM_000308.4(CTSA):c.1031C>T (p.Pro344Leu)
|
rs368108194
|
0.00008
|
|
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met)
|
rs33975915
|
0.00008
|
|
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp)
|
rs200626260
|
0.00008
|
|
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)
|
rs137852328
|
0.00008
|
|
NM_000528.4(MAN2B1):c.2341C>T (p.Arg781Trp)
|
rs201600797
|
0.00008
|
|
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu)
|
rs558217174
|
0.00008
|
|
NM_000642.3(AGL):c.11G>A (p.Ser4Asn)
|
rs1257997077
|
0.00008
|
|
NM_000642.3(AGL):c.1423+3A>G
|
rs766117687
|
0.00008
|
|
NM_000642.3(AGL):c.3116A>T (p.His1039Leu)
|
rs1430797073
|
0.00008
|
|
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys)
|
rs375254875
|
0.00008
|
|
NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln)
|
rs373822815
|
0.00008
|
|
NM_001360016.2(G6PD):c.1287+3G>C
|
rs782786750
|
0.00008
|
|
NM_002076.4(GNS):c.143A>G (p.Asn48Ser)
|
rs370011049
|
0.00008
|
|
NM_002076.4(GNS):c.1583A>G (p.Tyr528Cys)
|
rs138355639
|
0.00008
|
|
NM_002076.4(GNS):c.223G>A (p.Gly75Arg)
|
rs371990029
|
0.00008
|
|
NM_002637.4(PHKA1):c.2335C>A (p.Gln779Lys)
|
rs144670958
|
0.00008
|
|
NM_002637.4(PHKA1):c.742C>T (p.Arg248Cys)
|
rs1382212255
|
0.00008
|
|
NM_004130.4(GYG1):c.610T>C (p.Phe204Leu)
|
rs567161281
|
0.00008
|
|
NM_005908.4(MANBA):c.1916G>A (p.Arg639His)
|
rs536744758
|
0.00008
|
|
NM_006859.4(LIAS):c.637A>G (p.Thr213Ala)
|
rs374709255
|
0.00008
|
|
NM_016219.5(MAN1B1):c.1738C>G (p.Pro580Ala)
|
rs200860565
|
0.00008
|
|
NM_031229.4(RBCK1):c.50G>A (p.Arg17Gln)
|
rs200757913
|
0.00008
|
|
NM_053013.4(ENO3):c.1093dup (p.Trp365fs)
|
rs771868807
|
0.00008
|
|
NM_053013.4(ENO3):c.698C>T (p.Ala233Val)
|
rs142982636
|
0.00008
|
|
NM_152419.3(HGSNAT):c.1145C>G (p.Ser382Cys)
|
rs201735532
|
0.00008
|
|
NM_000035.4(ALDOB):c.991C>T (p.Arg331Trp)
|
rs150407710
|
0.00007
|
|
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)
|
rs367650121
|
0.00007
|
|
NM_000147.5(FUCA1):c.1A>G (p.Met1Val)
|
rs558338123
|
0.00007
|
|
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)
|
rs372786811
|
0.00007
|
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
|
NM_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
0.00007
|
|
NM_000152.5(GAA):c.857C>T (p.Thr286Met)
|
rs375310352
|
0.00007
|
|
NM_000158.4(GBE1):c.467G>A (p.Arg156His)
|
rs374404487
|
0.00007
|
|
NM_000199.5(SGSH):c.781G>A (p.Gly261Ser)
|
rs149248428
|
0.00007
|
|
NM_000203.5(IDUA):c.1910C>T (p.Pro637Leu)
|
rs371369206
|
0.00007
|
|
NM_000263.4(NAGLU):c.593T>A (p.Phe198Tyr)
|
rs752264680
|
0.00007
|
|
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala)
|
rs104894030
|
0.00007
|
|
NM_000292.3(PHKA2):c.1060G>A (p.Ala354Thr)
|
rs746875668
|
0.00007
|
|
NM_000292.3(PHKA2):c.2665G>A (p.Val889Ile)
|
rs199948654
|
0.00007
|
|
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)
|
rs145952475
|
0.00007
|
|
NM_000308.4(CTSA):c.1088+5G>C
|
rs377189450
|
0.00007
|
|
NM_000308.4(CTSA):c.1409T>C (p.Met470Thr)
|
rs771327084
|
0.00007
|
|
NM_000308.4(CTSA):c.938T>C (p.Met313Thr)
|
rs759949142
|
0.00007
|
|
NM_000404.4(GLB1):c.875C>G (p.Ser292Cys)
|
rs368139032
|
0.00007
|
|
NM_000528.4(MAN2B1):c.862A>G (p.Asn288Asp)
|
rs927024699
|
0.00007
|
|
NM_000642.3(AGL):c.1480C>T (p.Arg494Cys)
|
rs199660743
|
0.00007
|
|
NM_000642.3(AGL):c.2729G>A (p.Arg910Gln)
|
rs369044372
|
0.00007
|
|
NM_000642.3(AGL):c.3419T>G (p.Leu1140Arg)
|
rs568139822
|
0.00007
|
|
NM_000642.3(AGL):c.4271A>T (p.Tyr1424Phe)
|
rs779560460
|
0.00007
|
|
NM_000642.3(AGL):c.846+8T>A
|
rs372517543
|
0.00007
|
|
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)
|
rs147750704
|
0.00007
|
|
NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys)
|
rs202067116
|
0.00007
|
|
NM_001040716.2(PC):c.1409A>G (p.Gln470Arg)
|
rs940286072
|
0.00007
|
|
NM_001040716.2(PC):c.50G>A (p.Arg17His)
|
rs375282341
|
0.00007
|
|
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys)
|
rs11552539
|
0.00007
|
|
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr)
|
rs766734350
|
0.00007
|
|
NM_001243177.4(ALDOA):c.926C>T (p.Thr309Ile)
|
rs368207656
|
0.00007
|
|
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile)
|
rs145648338
|
0.00007
|
|
NM_001739.2(CA5A):c.629C>T (p.Ala210Val)
|
rs377314096
|
0.00007
|
|
NM_002076.4(GNS):c.539A>G (p.Lys180Arg)
|
rs745307029
|
0.00007
|
|
NM_002103.5(GYS1):c.1436C>T (p.Pro479Leu)
|
rs144681053
|
0.00007
|
|
NM_002294.3(LAMP2):c.515T>C (p.Leu172Pro)
|
rs371174243
|
0.00007
|
|
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser)
|
rs397516747
|
0.00007
|
|
NM_002637.4(PHKA1):c.1151A>G (p.Tyr384Cys)
|
rs782509826
|
0.00007
|
|
NM_002637.4(PHKA1):c.1592A>T (p.Tyr531Phe)
|
rs781878909
|
0.00007
|
|
NM_002637.4(PHKA1):c.1964G>A (p.Arg655His)
|
rs782528091
|
0.00007
|
|
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr)
|
rs749358752
|
0.00007
|
|
NM_012434.5(SLC17A5):c.1316T>C (p.Val439Ala)
|
rs573439155
|
0.00007
|
|
NM_024989.4(PGAP1):c.1475A>G (p.Asn492Ser)
|
rs199809707
|
0.00007
|
|
NM_024989.4(PGAP1):c.2197C>T (p.Pro733Ser)
|
rs753237558
|
0.00007
|
|
NM_031229.4(RBCK1):c.226C>T (p.Arg76Cys)
|
rs575392530
|
0.00007
|
|
NM_031229.4(RBCK1):c.28G>C (p.Glu10Gln)
|
rs376438608
|
0.00007
|
|
NM_053013.4(ENO3):c.760A>C (p.Asn254His)
|
rs561878819
|
0.00007
|
|
NM_000027.4(AGA):c.523C>T (p.Pro175Ser)
|
rs367968495
|
0.00006
|
|
NM_000027.4(AGA):c.794G>A (p.Arg265His)
|
rs375663828
|
0.00006
|
|
NM_000035.4(ALDOB):c.226G>A (p.Gly76Ser)
|
rs759204107
|
0.00006
|
|
NM_000046.5(ARSB):c.1534G>A (p.Val512Met)
|
rs201928777
|
0.00006
|
|
NM_000046.5(ARSB):c.550A>G (p.Ile184Val)
|
rs371812342
|
0.00006
|
|
NM_000108.5(DLD):c.1492A>C (p.Asn498His)
|
rs564889609
|
0.00006
|
|
NM_000108.5(DLD):c.508G>A (p.Gly170Ser)
|
rs567286177
|
0.00006
|
|
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser)
|
rs369472089
|
0.00006
|
|
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu)
|
rs756126944
|
0.00006
|
|
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser)
|
rs940955642
|
0.00006
|
|
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)
|
rs200202628
|
0.00006
|
|
NM_000152.5(GAA):c.359C>G (p.Ala120Gly)
|
rs779208773
|
0.00006
|
|
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
|
rs560661191
|
0.00006
|
|
NM_000152.5(GAA):c.43G>A (p.Val15Ile)
|
rs772157487
|
0.00006
|
|
NM_000152.5(GAA):c.55G>A (p.Val19Met)
|
rs200343198
|
0.00006
|
|
NM_000152.5(GAA):c.862G>A (p.Gly288Ser)
|
rs200125735
|
0.00006
|
|
NM_000154.2(GALK1):c.267G>T (p.Gln89His)
|
rs144915547
|
0.00006
|
|
NM_000158.4(GBE1):c.1283G>C (p.Gly428Ala)
|
rs756129254
|
0.00006
|
|
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro)
|
rs761908536
|
0.00006
|
|
NM_000158.4(GBE1):c.527T>A (p.Ile176Lys)
|
rs571116428
|
0.00006
|
|
NM_000158.4(GBE1):c.785G>A (p.Arg262His)
|
rs369574719
|
0.00006
|
|
NM_000181.4(GUSB):c.1065C>T (p.Asp355=)
|
rs758070679
|
0.00006
|
|
NM_000181.4(GUSB):c.1213G>A (p.Asp405Asn)
|
rs200149500
|
0.00006
|
|
NM_000181.4(GUSB):c.871T>A (p.Tyr291Asn)
|
rs760452541
|
0.00006
|
|
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val)
|
rs76375023
|
0.00006
|
|
NM_000199.5(SGSH):c.1364C>T (p.Pro455Leu)
|
rs766272590
|
0.00006
|
|
NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys)
|
rs145645179
|
0.00006
|
|
NM_000202.8(IDS):c.950C>A (p.Ala317Asp)
|
rs374576277
|
0.00006
|
|
NM_000203.5(IDUA):c.1001T>G (p.Leu334Arg)
|
rs753372554
|
0.00006
|
|
NM_000203.5(IDUA):c.1339C>T (p.Arg447Cys)
|
rs866224971
|
0.00006
|
|
NM_000262.3(NAGA):c.103C>T (p.Arg35Cys)
|
rs376933189
|
0.00006
|
|
NM_000262.3(NAGA):c.983T>C (p.Met328Thr)
|
rs140356002
|
0.00006
|
|
NM_000263.4(NAGLU):c.1192C>A (p.Gln398Lys)
|
rs553293896
|
0.00006
|
|
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)
|
rs768396832
|
0.00006
|
|
NM_000289.6(PFKM):c.1060G>A (p.Val354Met)
|
rs930337550
|
0.00006
|
|
NM_000289.6(PFKM):c.2308A>G (p.Ile770Val)
|
rs950246136
|
0.00006
|
|
NM_000289.6(PFKM):c.857G>A (p.Arg286His)
|
rs768496070
|
0.00006
|
|
NM_000290.4(PGAM2):c.115A>C (p.Lys39Gln)
|
rs147126221
|
0.00006
|
|
NM_000290.4(PGAM2):c.148A>C (p.Met50Leu)
|
rs151308911
|
0.00006
|
|
NM_000290.4(PGAM2):c.256C>T (p.Arg86Cys)
|
rs371509257
|
0.00006
|
|
NM_000290.4(PGAM2):c.515T>G (p.Val172Gly)
|
rs370003298
|
0.00006
|
|
NM_000290.4(PGAM2):c.532G>A (p.Gly178Ser)
|
rs772187619
|
0.00006
|
|
NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp)
|
rs752958758
|
0.00006
|
|
NM_000292.3(PHKA2):c.1657T>C (p.Cys553Arg)
|
rs140703161
|
0.00006
|
|
NM_000293.3(PHKB):c.1114A>G (p.Met372Val)
|
rs758968989
|
0.00006
|
|
NM_000293.3(PHKB):c.1544T>C (p.Ile515Thr)
|
rs141224055
|
0.00006
|
|
NM_000293.3(PHKB):c.2882A>T (p.Lys961Met)
|
rs371541668
|
0.00006
|
|
NM_000293.3(PHKB):c.445C>T (p.Leu149Phe)
|
rs370363309
|
0.00006
|
|
NM_000294.3(PHKG2):c.353A>G (p.Tyr118Cys)
|
rs370423261
|
0.00006
|
|
NM_000308.4(CTSA):c.769G>A (p.Val257Met)
|
rs745752655
|
0.00006
|
|
NM_000308.4(CTSA):c.934C>T (p.Arg312Trp)
|
rs368697828
|
0.00006
|
|
NM_000343.4(SLC5A1):c.1012C>G (p.Leu338Val)
|
rs201216997
|
0.00006
|
|
NM_000343.4(SLC5A1):c.1618A>G (p.Thr540Ala)
|
rs200105476
|
0.00006
|
|
NM_000343.4(SLC5A1):c.34G>A (p.Ala12Thr)
|
rs202189110
|
0.00006
|
|
NM_000404.4(GLB1):c.616C>T (p.Arg206Cys)
|
rs766214522
|
0.00006
|
|
NM_000512.5(GALNS):c.1364+6T>A
|
rs377120480
|
0.00006
|
|
NM_000642.3(AGL):c.1646A>G (p.Asn549Ser)
|
rs909008103
|
0.00006
|
|
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser)
|
rs180768312
|
0.00006
|
|
NM_000642.3(AGL):c.188G>A (p.Arg63His)
|
rs199958942
|
0.00006
|
|
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala)
|
rs576969969
|
0.00006
|
|
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg)
|
rs773044002
|
0.00006
|
|
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg)
|
rs149914040
|
0.00006
|
|
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser)
|
rs199554089
|
0.00006
|
|
NM_000642.3(AGL):c.293+3A>G
|
rs375459662
|
0.00006
|
|
NM_000642.3(AGL):c.3133G>C (p.Val1045Leu)
|
rs747339245
|
0.00006
|
|
NM_000642.3(AGL):c.3985A>G (p.Arg1329Gly)
|
rs777095374
|
0.00006
|
|
NM_000642.3(AGL):c.4451T>G (p.Val1484Gly)
|
rs774708890
|
0.00006
|
|
NM_000642.3(AGL):c.847-7T>A
|
rs750785301
|
0.00006
|
|
NM_000925.4(PDHB):c.38G>A (p.Arg13Gln)
|
rs202185395
|
0.00006
|
|
NM_001008216.2(GALE):c.760G>A (p.Ala254Thr)
|
rs926654478
|
0.00006
|
|
NM_001014436.3(DBNL):c.*2021C>T
|
rs372222997
|
0.00006
|
|
NM_001040716.2(PC):c.1512C>T (p.Leu504=)
|
rs763298490
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu)
|
rs782025581
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.377G>A (p.Arg126Gln)
|
rs78735156
|
0.00006
|
|
NM_001243177.4(ALDOA):c.382A>C (p.Ile128Leu)
|
rs747788394
|
0.00006
|
|
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp)
|
rs150431185
|
0.00006
|
|
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile)
|
rs782174983
|
0.00006
|
|
NM_001739.2(CA5A):c.253G>T (p.Val85Phe)
|
rs138938647
|
0.00006
|
|
NM_001739.2(CA5A):c.763G>A (p.Ala255Thr)
|
rs756854770
|
0.00006
|
|
NM_001931.5(DLAT):c.583C>T (p.Pro195Ser)
|
rs149440666
|
0.00006
|
|
NM_002103.5(GYS1):c.2065C>T (p.Arg689Cys)
|
rs994882983
|
0.00006
|
|
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser)
|
rs766491800
|
0.00006
|
|
NM_002637.4(PHKA1):c.1714G>A (p.Asp572Asn)
|
rs113352627
|
0.00006
|
|
NM_002637.4(PHKA1):c.2339C>T (p.Ala780Val)
|
rs782403774
|
0.00006
|
|
NM_002637.4(PHKA1):c.3149G>A (p.Arg1050His)
|
rs782453258
|
0.00006
|
|
NM_003384.3(VRK1):c.161-3C>T
|
rs746546400
|
0.00006
|
|
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser)
|
rs369310409
|
0.00006
|
|
NM_004130.4(GYG1):c.130T>C (p.Ser44Pro)
|
rs527407055
|
0.00006
|
|
NM_004130.4(GYG1):c.175A>G (p.Ile59Val)
|
rs535548906
|
0.00006
|
|
NM_004130.4(GYG1):c.67G>C (p.Gly23Arg)
|
rs148083274
|
0.00006
|
|
NM_004130.4(GYG1):c.683C>T (p.Thr228Ile)
|
rs201672568
|
0.00006
|
|
NM_004130.4(GYG1):c.700G>A (p.Glu234Lys)
|
rs372805607
|
0.00006
|
|
NM_005327.7(HADH):c.361G>A (p.Val121Met)
|
rs377615662
|
0.00006
|
|
NM_005609.4(PYGM):c.1357G>A (p.Val453Ile)
|
rs151213354
|
0.00006
|
|
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg)
|
rs750032282
|
0.00006
|
|
NM_005609.4(PYGM):c.1913G>T (p.Gly638Val)
|
rs776881451
|
0.00006
|
|
NM_005609.4(PYGM):c.502A>C (p.Asn168His)
|
rs760531401
|
0.00006
|
|
NM_005609.4(PYGM):c.832C>T (p.Arg278Cys)
|
rs762779955
|
0.00006
|
|
NM_005908.4(MANBA):c.1922G>A (p.Arg641His)
|
rs569997475
|
0.00006
|
|
NM_005908.4(MANBA):c.418A>G (p.Ile140Val)
|
rs572164146
|
0.00006
|
|
NM_006765.4(TUSC3):c.25C>G (p.Arg9Gly)
|
rs755808199
|
0.00006
|
|
NM_006859.4(LIAS):c.108G>T (p.Lys36Asn)
|
rs199942447
|
0.00006
|
|
NM_006859.4(LIAS):c.751C>T (p.Pro251Ser)
|
rs146513468
|
0.00006
|
|
NM_006859.4(LIAS):c.80C>T (p.Pro27Leu)
|
rs369125654
|
0.00006
|
|
NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala)
|
rs372477546
|
0.00006
|
|
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln)
|
rs564358410
|
0.00006
|
|
NM_016219.5(MAN1B1):c.874A>G (p.Ile292Val)
|
rs573043401
|
0.00006
|
|
NM_031229.4(RBCK1):c.1029G>A (p.Ala343=)
|
rs201470953
|
0.00006
|
|
NM_031229.4(RBCK1):c.1333A>G (p.Met445Val)
|
rs372983302
|
0.00006
|
|
NM_031229.4(RBCK1):c.1520A>G (p.Gln507Arg)
|
rs969675403
|
0.00006
|
|
NM_031229.4(RBCK1):c.358C>T (p.Arg120Trp)
|
rs774464341
|
0.00006
|
|
NM_031229.4(RBCK1):c.5A>G (p.Asp2Gly)
|
rs763445513
|
0.00006
|
|
NM_031229.4(RBCK1):c.839C>T (p.Ala280Val)
|
rs1331848000
|
0.00006
|
|
NM_031229.4(RBCK1):c.956C>T (p.Ala319Val)
|
rs1199811720
|
0.00006
|
|
NM_031229.4(RBCK1):c.992C>T (p.Ser331Leu)
|
rs781592121
|
0.00006
|
|
NM_033159.4(HYAL1):c.1256G>A (p.Arg419Gln)
|
rs374011925
|
0.00006
|
|
NM_033159.4(HYAL1):c.587G>A (p.Arg196His)
|
rs782200654
|
0.00006
|
|
NM_053013.4(ENO3):c.166C>T (p.Arg56Cys)
|
rs139073445
|
0.00006
|
|
NM_053013.4(ENO3):c.926_929dup (p.Val311fs)
|
rs751624358
|
0.00006
|
|
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp)
|
rs371469177
|
0.00006
|
|
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn)
|
rs367799225
|
0.00006
|
|
NM_152419.3(HGSNAT):c.704C>T (p.Ala235Val)
|
rs777641646
|
0.00006
|
|
NM_152419.3(HGSNAT):c.721C>T (p.Arg241Cys)
|
rs564435701
|
0.00006
|
|
NM_198586.3(NHLRC1):c.740C>T (p.Ala247Val)
|
rs367906378
|
0.00006
|
|
NM_198586.3(NHLRC1):c.805G>A (p.Val269Met)
|
rs140164729
|
0.00006
|
|
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys)
|
rs202134230
|
0.00005
|
|
NM_000147.5(FUCA1):c.1178C>T (p.Ser393Leu)
|
rs149168482
|
0.00005
|
|
NM_000147.5(FUCA1):c.37C>T (p.Pro13Ser)
|
rs569701574
|
0.00005
|
|
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn)
|
rs750711451
|
0.00005
|
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
|
NM_000152.5(GAA):c.1639G>A (p.Val547Met)
|
rs751102729
|
0.00005
|
|
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr)
|
rs367632754
|
0.00005
|
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
0.00005
|
|
NM_000152.5(GAA):c.2510G>A (p.Arg837His)
|
rs746095374
|
0.00005
|
|
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn)
|
rs372604133
|
0.00005
|
|
NM_000152.5(GAA):c.2672G>A (p.Arg891His)
|
rs199524847
|
0.00005
|
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
|
NM_000154.2(GALK1):c.856C>T (p.Arg286Trp)
|
rs370987432
|
0.00005
|
|
NM_000155.4(GALT):c.611G>A (p.Arg204Gln)
|
rs111033740
|
0.00005
|
|
NM_000181.4(GUSB):c.532C>A (p.Pro178Thr)
|
rs11559281
|
0.00005
|
|
NM_000199.5(SGSH):c.264G>A (p.Met88Ile)
|
rs1178488696
|
0.00005
|
|
NM_000203.5(IDUA):c.682C>T (p.Pro228Ser)
|
rs775641597
|
0.00005
|
|
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp)
|
rs747529593
|
0.00005
|
|
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn)
|
rs375068243
|
0.00005
|
|
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)
|
rs148544344
|
0.00005
|
|
NM_000292.3(PHKA2):c.2137+5G>A
|
rs372314504
|
0.00005
|
|
NM_000293.3(PHKB):c.1730C>T (p.Pro577Leu)
|
rs775984009
|
0.00005
|
|
NM_000294.3(PHKG2):c.556+5G>T
|
rs369684098
|
0.00005
|
|
NM_000343.4(SLC5A1):c.1054G>A (p.Glu352Lys)
|
rs200308405
|
0.00005
|
|
NM_000343.4(SLC5A1):c.89C>T (p.Ser30Phe)
|
rs201689857
|
0.00005
|
|
NM_000343.4(SLC5A1):c.928G>A (p.Val310Met)
|
rs200727862
|
0.00005
|
|
NM_000528.4(MAN2B1):c.2054T>C (p.Leu685Ser)
|
rs779966472
|
0.00005
|
|
NM_000642.3(AGL):c.2935G>A (p.Gly979Arg)
|
rs752502818
|
0.00005
|
|
NM_000642.3(AGL):c.4300A>G (p.Asn1434Asp)
|
rs146154694
|
0.00005
|
|
NM_000891.3(KCNJ2):c.1222C>G (p.Leu408Val)
|
rs753757610
|
0.00005
|
|
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)
|
rs375605948
|
0.00005
|
|
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)
|
rs151247980
|
0.00005
|
|
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser)
|
rs139242990
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val)
|
rs537115620
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val)
|
rs782475284
|
0.00005
|
|
NM_001243177.4(ALDOA):c.375C>G (p.Asn125Lys)
|
rs146976414
|
0.00005
|
|
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu)
|
rs536067980
|
0.00005
|
|
NM_001360016.2(G6PD):c.1493G>C (p.Arg498Thr)
|
rs782422580
|
0.00005
|
|
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn)
|
rs5030870
|
0.00005
|
|
NM_001360016.2(G6PD):c.697G>A (p.Val233Ile)
|
rs781948754
|
0.00005
|
|
NM_001370658.1(BTD):c.847C>T (p.His283Tyr)
|
rs144084212
|
0.00005
|
|
NM_001739.2(CA5A):c.446C>T (p.Ala149Val)
|
rs113386477
|
0.00005
|
|
NM_001739.2(CA5A):c.623C>T (p.Ala208Val)
|
rs151220382
|
0.00005
|
|
NM_001739.2(CA5A):c.626G>A (p.Arg209Gln)
|
rs553928413
|
0.00005
|
|
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala)
|
rs202228620
|
0.00005
|
|
NM_002076.4(GNS):c.791C>T (p.Thr264Met)
|
rs575544204
|
0.00005
|
|
NM_002103.5(GYS1):c.1754A>G (p.Gln585Arg)
|
rs748471233
|
0.00005
|
|
NM_002103.5(GYS1):c.1879G>A (p.Glu627Lys)
|
rs962330001
|
0.00005
|
|
NM_002103.5(GYS1):c.1912C>T (p.Arg638Trp)
|
rs768327651
|
0.00005
|
|
NM_002103.5(GYS1):c.1922C>T (p.Ser641Leu)
|
rs137913986
|
0.00005
|
|
NM_002103.5(GYS1):c.2035G>A (p.Glu679Lys)
|
rs574739791
|
0.00005
|
|
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln)
|
rs202007590
|
0.00005
|
|
NM_003384.3(VRK1):c.617C>A (p.Pro206Gln)
|
rs1412431442
|
0.00005
|
|
NM_004130.4(GYG1):c.551C>T (p.Pro184Leu)
|
rs746196371
|
0.00005
|
|
NM_005609.4(PYGM):c.1882G>A (p.Gly628Arg)
|
rs201591132
|
0.00005
|
|
NM_005609.4(PYGM):c.193G>A (p.Val65Met)
|
rs149658961
|
0.00005
|
|
NM_005609.4(PYGM):c.855+4C>T
|
rs199834605
|
0.00005
|
|
NM_005908.4(MANBA):c.1837C>T (p.Arg613Cys)
|
rs749814120
|
0.00005
|
|
NM_005908.4(MANBA):c.2138A>T (p.Asp713Val)
|
rs773650770
|
0.00005
|
|
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val)
|
rs367692761
|
0.00005
|
|
NM_006859.4(LIAS):c.386C>T (p.Thr129Met)
|
rs142293392
|
0.00005
|
|
NM_012434.5(SLC17A5):c.710G>A (p.Gly237Glu)
|
rs374659214
|
0.00005
|
|
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)
|
rs760826751
|
0.00005
|
|
NM_016203.4(PRKAG2):c.1679-3C>T
|
rs371543989
|
0.00005
|
|
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu)
|
rs41317142
|
0.00005
|
|
NM_016219.5(MAN1B1):c.689C>T (p.Thr230Ile)
|
rs199561708
|
0.00005
|
|
NM_031229.4(RBCK1):c.331C>G (p.Gln111Glu)
|
rs746197240
|
0.00005
|
|
NM_031229.4(RBCK1):c.514C>A (p.Pro172Thr)
|
rs751621844
|
0.00005
|
|
NM_031229.4(RBCK1):c.808C>G (p.Gln270Glu)
|
rs201645896
|
0.00005
|
|
NM_033159.4(HYAL1):c.545G>C (p.Trp182Ser)
|
rs1346505806
|
0.00005
|
|
NM_053013.4(ENO3):c.832G>A (p.Glu278Lys)
|
rs370822982
|
0.00005
|
|
NM_152419.3(HGSNAT):c.691T>C (p.Trp231Arg)
|
rs980989948
|
0.00005
|
|
NM_198586.3(NHLRC1):c.721C>G (p.Leu241Val)
|
rs772155104
|
0.00005
|
|
NM_000027.4(AGA):c.538G>A (p.Gly180Arg)
|
rs373865451
|
0.00004
|
|
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile)
|
rs138643812
|
0.00004
|
|
NM_000046.5(ARSB):c.704A>G (p.Tyr235Cys)
|
rs745804096
|
0.00004
|
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
|
NM_000108.5(DLD):c.764T>C (p.Met255Thr)
|
rs185710460
|
0.00004
|
|
NM_000108.5(DLD):c.814T>C (p.Phe272Leu)
|
rs942843326
|
0.00004
|
|
NM_000108.5(DLD):c.82T>C (p.Ser28Pro)
|
rs768123909
|
0.00004
|
|
NM_000108.5(DLD):c.869A>G (p.Asp290Gly)
|
rs143555186
|
0.00004
|
|
NM_000147.5(FUCA1):c.1360G>A (p.Ala454Thr)
|
rs377360830
|
0.00004
|
|
NM_000147.5(FUCA1):c.397G>C (p.Val133Leu)
|
rs1204848910
|
0.00004
|
|
NM_000147.5(FUCA1):c.517C>T (p.Arg173Trp)
|
rs768069468
|
0.00004
|
|
NM_000147.5(FUCA1):c.649G>A (p.Asp217Asn)
|
rs781345107
|
0.00004
|
|
NM_000151.4(G6PC1):c.447G>A (p.Arg149=)
|
rs549712764
|
0.00004
|
|
NM_000152.5(GAA):c.1198G>A (p.Val400Ile)
|
rs758334520
|
0.00004
|
|
NM_000152.5(GAA):c.11G>A (p.Arg4Lys)
|
rs372147077
|
0.00004
|
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00004
|
|
NM_000152.5(GAA):c.196C>T (p.Arg66Trp)
|
rs371971763
|
0.00004
|
|
NM_000152.5(GAA):c.2330C>T (p.Thr777Met)
|
rs746779016
|
0.00004
|
|
NM_000152.5(GAA):c.2331G>A (p.Thr777=)
|
rs375311693
|
0.00004
|
|
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu)
|
rs773498009
|
0.00004
|
|
NM_000152.5(GAA):c.502C>T (p.Arg168Trp)
|
rs777473001
|
0.00004
|
|
NM_000152.5(GAA):c.643G>A (p.Glu215Lys)
|
rs201286896
|
0.00004
|
|
NM_000155.4(GALT):c.197C>T (p.Pro66Leu)
|
rs111033656
|
0.00004
|
|
NM_000158.4(GBE1):c.1270A>G (p.Ile424Val)
|
rs773950053
|
0.00004
|
|
NM_000158.4(GBE1):c.1672G>A (p.Glu558Lys)
|
rs765212625
|
0.00004
|
|
NM_000158.4(GBE1):c.23C>T (p.Ala8Val)
|
rs759518868
|
0.00004
|
|
NM_000158.4(GBE1):c.626A>G (p.His209Arg)
|
rs542346749
|
0.00004
|
|
NM_000181.4(GUSB):c.1121G>A (p.Arg374His)
|
rs780716481
|
0.00004
|
|
NM_000181.4(GUSB):c.1138G>A (p.Ala380Thr)
|
rs377615121
|
0.00004
|
|
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)
|
rs752523400
|
0.00004
|
|
NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu)
|
rs751025746
|
0.00004
|
|
NM_000181.4(GUSB):c.766T>C (p.Phe256Leu)
|
rs200941434
|
0.00004
|
|
NM_000199.5(SGSH):c.1042C>T (p.Leu348Phe)
|
rs146494740
|
0.00004
|
|
NM_000199.5(SGSH):c.1135G>A (p.Val379Met)
|
rs541847913
|
0.00004
|
|
NM_000199.5(SGSH):c.1241G>A (p.Arg414His)
|
rs200320139
|
0.00004
|
|
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys)
|
rs761780038
|
0.00004
|
|
NM_000199.5(SGSH):c.314G>A (p.Arg105Gln)
|
rs375058146
|
0.00004
|
|
NM_000199.5(SGSH):c.89C>T (p.Ala30Val)
|
rs767227727
|
0.00004
|
|
NM_000202.8(IDS):c.449C>T (p.Pro150Leu)
|
rs1406337035
|
0.00004
|
|
NM_000203.5(IDUA):c.1633G>A (p.Glu545Lys)
|
rs1257968688
|
0.00004
|
|
NM_000203.5(IDUA):c.340C>A (p.Leu114Met)
|
rs372934646
|
0.00004
|
|
NM_000203.5(IDUA):c.581C>G (p.Thr194Ser)
|
rs575667885
|
0.00004
|
|
NM_000203.5(IDUA):c.64C>G (p.Pro22Ala)
|
rs1001972534
|
0.00004
|
|
NM_000203.5(IDUA):c.812C>T (p.Ser271Phe)
|
rs766950553
|
0.00004
|
|
NM_000262.3(NAGA):c.324C>T (p.Tyr108=)
|
rs182798205
|
0.00004
|
|
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys)
|
rs372458856
|
0.00004
|
|
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu)
|
rs368687817
|
0.00004
|
|
NM_000263.4(NAGLU):c.203G>A (p.Gly68Asp)
|
rs929286583
|
0.00004
|
|
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln)
|
rs144807822
|
0.00004
|
|
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser)
|
rs375458666
|
0.00004
|
|
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
|
rs755992543
|
0.00004
|
|
NM_000292.3(PHKA2):c.1384G>A (p.Val462Ile)
|
rs1389980232
|
0.00004
|
|
NM_000292.3(PHKA2):c.1561A>G (p.Thr521Ala)
|
rs137958637
|
0.00004
|
|
NM_000292.3(PHKA2):c.2203T>G (p.Ser735Ala)
|
rs199904295
|
0.00004
|
|
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg)
|
rs750628677
|
0.00004
|
|
NM_000292.3(PHKA2):c.3326C>A (p.Thr1109Lys)
|
rs780391791
|
0.00004
|
|
NM_000293.3(PHKB):c.1499T>C (p.Ile500Thr)
|
rs147021608
|
0.00004
|
|
NM_000293.3(PHKB):c.229G>A (p.Gly77Ser)
|
rs749953598
|
0.00004
|
|
NM_000293.3(PHKB):c.2626A>G (p.Ile876Val)
|
rs545345880
|
0.00004
|
|
NM_000293.3(PHKB):c.271G>A (p.Ala91Thr)
|
rs200339326
|
0.00004
|
|
NM_000293.3(PHKB):c.2995G>A (p.Val999Ile)
|
rs375389167
|
0.00004
|
|
NM_000293.3(PHKB):c.3175C>T (p.Pro1059Ser)
|
rs746809041
|
0.00004
|
|
NM_000293.3(PHKB):c.754T>C (p.Phe252Leu)
|
rs373920188
|
0.00004
|
|
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln)
|
rs138299462
|
0.00004
|
|
NM_000308.4(CTSA):c.1009G>C (p.Ala337Pro)
|
rs374059459
|
0.00004
|
|
NM_000308.4(CTSA):c.448G>A (p.Ala150Thr)
|
rs779275701
|
0.00004
|
|
NM_000308.4(CTSA):c.980T>C (p.Met327Thr)
|
rs140321228
|
0.00004
|
|
NM_000340.2(SLC2A2):c.1039G>A (p.Ala347Thr)
|
rs776435170
|
0.00004
|
|
NM_000340.2(SLC2A2):c.206C>A (p.Thr69Lys)
|
rs779977931
|
0.00004
|
|
NM_000343.4(SLC5A1):c.1126A>G (p.Asn376Asp)
|
rs200834101
|
0.00004
|
|
NM_000343.4(SLC5A1):c.1693A>G (p.Asn565Asp)
|
rs33948878
|
0.00004
|
|
NM_000343.4(SLC5A1):c.461T>C (p.Ile154Thr)
|
rs565272257
|
0.00004
|
|
NM_000404.4(GLB1):c.1052G>A (p.Arg351Gln)
|
rs761601513
|
0.00004
|
|
NM_000404.4(GLB1):c.1286C>T (p.Pro429Leu)
|
rs201148460
|
0.00004
|
|
NM_000404.4(GLB1):c.1910C>T (p.Thr637Met)
|
rs369133124
|
0.00004
|
|
NM_000404.4(GLB1):c.235G>A (p.Ala79Thr)
|
rs553660803
|
0.00004
|
|
NM_000507.4(FBP1):c.567G>A (p.Pro189=)
|
rs376631329
|
0.00004
|
|
NM_000507.4(FBP1):c.764G>T (p.Arg255Leu)
|
rs28369761
|
0.00004
|
|
NM_000507.4(FBP1):c.799G>A (p.Ala267Thr)
|
rs576352790
|
0.00004
|
|
NM_000512.5(GALNS):c.1475C>T (p.Ala492Val)
|
rs141171091
|
0.00004
|
|
NM_000512.5(GALNS):c.715G>A (p.Val239Ile)
|
rs145131011
|
0.00004
|
|
NM_000512.5(GALNS):c.832G>A (p.Ala278Thr)
|
rs377591464
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1528-3C>A
|
rs752895909
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1540G>A (p.Val514Ile)
|
rs759767616
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1645-3G>A
|
rs748206062
|
0.00004
|
|
NM_000528.4(MAN2B1):c.2166-8G>A
|
rs774350579
|
0.00004
|
|
NM_000528.4(MAN2B1):c.2167G>A (p.Asp723Asn)
|
rs749183690
|
0.00004
|
|
NM_000528.4(MAN2B1):c.2431C>T (p.Leu811Phe)
|
rs367852398
|
0.00004
|
|
NM_000528.4(MAN2B1):c.773C>T (p.Pro258Leu)
|
rs1196803371
|
0.00004
|
|
NM_000642.3(AGL):c.1049T>C (p.Met350Thr)
|
rs761122742
|
0.00004
|
|
NM_000642.3(AGL):c.1165A>T (p.Ile389Phe)
|
rs140002583
|
0.00004
|
|
NM_000642.3(AGL):c.1250G>C (p.Gly417Ala)
|
rs754419745
|
0.00004
|
|
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala)
|
rs754606378
|
0.00004
|
|
NM_000642.3(AGL):c.1611+6G>A
|
rs774806852
|
0.00004
|
|
NM_000642.3(AGL):c.2001+4T>C
|
rs989274141
|
0.00004
|
|
NM_000642.3(AGL):c.2032A>G (p.Thr678Ala)
|
rs763790850
|
0.00004
|
|
NM_000642.3(AGL):c.2357C>T (p.Thr786Met)
|
rs147586981
|
0.00004
|
|
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly)
|
rs374531404
|
0.00004
|
|
NM_000642.3(AGL):c.3258A>T (p.Ala1086=)
|
rs779468425
|
0.00004
|
|
NM_000642.3(AGL):c.325G>T (p.Val109Leu)
|
rs369068676
|
0.00004
|
|
NM_000642.3(AGL):c.340C>T (p.Arg114Cys)
|
rs760763834
|
0.00004
|
|
NM_000642.3(AGL):c.4100G>A (p.Gly1367Glu)
|
rs776872571
|
0.00004
|
|
NM_000642.3(AGL):c.767G>A (p.Arg256His)
|
rs200180652
|
0.00004
|
|
NM_000642.3(AGL):c.841A>G (p.Met281Val)
|
rs185838959
|
0.00004
|
|
NM_000642.3(AGL):c.911T>C (p.Val304Ala)
|
rs763076276
|
0.00004
|
|
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met)
|
rs144022753
|
0.00004
|
|
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)
|
rs766143485
|
0.00004
|
|
NM_000891.3(KCNJ2):c.511A>G (p.Ile171Val)
|
rs150326473
|
0.00004
|
|
NM_001008216.2(GALE):c.187G>C (p.Glu63Gln)
|
rs370693766
|
0.00004
|
|
NM_001008216.2(GALE):c.794G>A (p.Arg265Gln)
|
rs377362117
|
0.00004
|
|
NM_001008216.2(GALE):c.97G>A (p.Asp33Asn)
|
rs727503945
|
0.00004
|
|
NM_001039770.3(TMPPE):c.-398A>G
|
rs369627064
|
0.00004
|
|
NM_001040716.2(PC):c.1370C>G (p.Thr457Ser)
|
rs200676705
|
0.00004
|
|
NM_001040716.2(PC):c.3137A>G (p.Glu1046Gly)
|
rs771700107
|
0.00004
|
|
NM_001040716.2(PC):c.3383G>C (p.Gly1128Ala)
|
rs138990904
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val)
|
rs782480303
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.1220G>C (p.Ser407Thr)
|
rs863224212
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His)
|
rs782500443
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.700C>T (p.Leu234Phe)
|
rs782616313
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu)
|
rs141105181
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.785+3A>G
|
rs373543021
|
0.00004
|
|
NM_001243177.4(ALDOA):c.764G>A (p.Arg255His)
|
rs534264493
|
0.00004
|
|
NM_001243177.4(ALDOA):c.929C>T (p.Ala310Val)
|
rs201658390
|
0.00004
|
|
NM_001352514.2(HLCS):c.910C>T (p.Leu304Phe)
|
rs763508196
|
0.00004
|
|
NM_001370658.1(BTD):c.-38G>A
|
rs138473616
|
0.00004
|
|
NM_001370658.1(BTD):c.261T>G (p.Ile87Met)
|
rs1024847163
|
0.00004
|
|
NM_001370658.1(BTD):c.49G>A (p.Val17Met)
|
rs772369148
|
0.00004
|
|
NM_001739.2(CA5A):c.164C>T (p.Pro55Leu)
|
rs764182711
|
0.00004
|
|
NM_001739.2(CA5A):c.271T>C (p.Ser91Pro)
|
rs557776920
|
0.00004
|
|
NM_001739.2(CA5A):c.38C>T (p.Ser13Phe)
|
rs200005306
|
0.00004
|
|
NM_001739.2(CA5A):c.544G>A (p.Val182Met)
|
rs149854962
|
0.00004
|
|
NM_001739.2(CA5A):c.668C>A (p.Thr223Asn)
|
rs144744608
|
0.00004
|
|
NM_001931.5(DLAT):c.1547G>T (p.Ser516Ile)
|
rs782629889
|
0.00004
|
|
NM_001931.5(DLAT):c.974C>T (p.Pro325Leu)
|
rs782527135
|
0.00004
|
|
NM_002076.4(GNS):c.1309-12A>G
|
rs376318831
|
0.00004
|
|
NM_002076.4(GNS):c.311C>T (p.Pro104Leu)
|
rs1236473511
|
0.00004
|
|
NM_002076.4(GNS):c.325G>A (p.Val109Ile)
|
rs777717534
|
0.00004
|
|
NM_002076.4(GNS):c.415A>G (p.Met139Val)
|
rs142588770
|
0.00004
|
|
NM_002076.4(GNS):c.688G>A (p.Ala230Thr)
|
rs140270805
|
0.00004
|
|
NM_002076.4(GNS):c.886C>G (p.Leu296Val)
|
rs755801592
|
0.00004
|
|
NM_002076.4(GNS):c.968A>G (p.Tyr323Cys)
|
rs888774422
|
0.00004
|
|
NM_002103.5(GYS1):c.1049A>G (p.Asn350Ser)
|
rs776808234
|
0.00004
|
|
NM_002103.5(GYS1):c.1112G>A (p.Arg371Gln)
|
rs369847599
|
0.00004
|
|
NM_002103.5(GYS1):c.1279A>G (p.Met427Val)
|
rs746669628
|
0.00004
|
|
NM_002103.5(GYS1):c.1904G>A (p.Arg635His)
|
rs200113836
|
0.00004
|
|
NM_002103.5(GYS1):c.206C>T (p.Thr69Met)
|
rs760809851
|
0.00004
|
|
NM_002103.5(GYS1):c.2207G>A (p.Arg736His)
|
rs367919986
|
0.00004
|
|
NM_002103.5(GYS1):c.251C>T (p.Thr84Ile)
|
rs143186691
|
0.00004
|
|
NM_002103.5(GYS1):c.631C>T (p.Arg211Cys)
|
rs150822415
|
0.00004
|
|
NM_002103.5(GYS1):c.646G>T (p.Gly216Cys)
|
rs141601517
|
0.00004
|
|
NM_002103.5(GYS1):c.652G>A (p.Val218Met)
|
rs771977818
|
0.00004
|
|
NM_002103.5(GYS1):c.80C>T (p.Ala27Val)
|
rs759088871
|
0.00004
|
|
NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu)
|
rs769378984
|
0.00004
|
|
NM_002294.3(LAMP2):c.928+6C>T
|
rs769837038
|
0.00004
|
|
NM_002637.4(PHKA1):c.1366A>G (p.Lys456Glu)
|
rs868916849
|
0.00004
|
|
NM_002637.4(PHKA1):c.751A>G (p.Thr251Ala)
|
rs1318462080
|
0.00004
|
|
NM_002863.5(PYGL):c.1731G>C (p.Gln577His)
|
rs368171220
|
0.00004
|
|
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val)
|
rs147604836
|
0.00004
|
|
NM_003384.3(VRK1):c.29G>A (p.Gly10Glu)
|
rs777028935
|
0.00004
|
|
NM_003384.3(VRK1):c.452G>A (p.Arg151Gln)
|
rs536881543
|
0.00004
|
|
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys)
|
rs769507445
|
0.00004
|
|
NM_003384.3(VRK1):c.683C>T (p.Thr228Met)
|
rs146113610
|
0.00004
|
|
NM_004130.4(GYG1):c.1009T>A (p.Ser337Thr)
|
rs542123045
|
0.00004
|
|
NM_004130.4(GYG1):c.614G>T (p.Gly205Val)
|
rs763516254
|
0.00004
|
|
NM_004130.4(GYG1):c.928G>C (p.Ala310Pro)
|
rs1363436975
|
0.00004
|
|
NM_005327.7(HADH):c.820G>A (p.Val274Met)
|
rs543440046
|
0.00004
|
|
NM_005327.7(HADH):c.907G>A (p.Gly303Ser)
|
rs201772964
|
0.00004
|
|
NM_005327.7(HADH):c.908G>T (p.Gly303Val)
|
rs575378007
|
0.00004
|
|
NM_005609.4(PYGM):c.1075C>T (p.Arg359Trp)
|
rs761807664
|
0.00004
|
|
NM_005609.4(PYGM):c.131G>A (p.Arg44His)
|
rs567482511
|
0.00004
|
|
NM_005609.4(PYGM):c.149G>A (p.Arg50Gln)
|
rs758175735
|
0.00004
|
|
NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys)
|
rs757292296
|
0.00004
|
|
NM_005609.4(PYGM):c.727C>T (p.Arg243Cys)
|
rs141055359
|
0.00004
|
|
NM_005609.4(PYGM):c.929G>A (p.Arg310His)
|
rs759130375
|
0.00004
|
|
NM_005908.4(MANBA):c.1131G>C (p.Gln377His)
|
rs762175890
|
0.00004
|
|
NM_005908.4(MANBA):c.124G>A (p.Gly42Arg)
|
rs776864457
|
0.00004
|
|
NM_005908.4(MANBA):c.2378C>T (p.Pro793Leu)
|
rs376410219
|
0.00004
|
|
NM_005908.4(MANBA):c.347T>C (p.Ile116Thr)
|
rs775841860
|
0.00004
|
|
NM_006765.4(TUSC3):c.557C>T (p.Thr186Met)
|
rs768790010
|
0.00004
|
|
NM_006859.4(LIAS):c.331T>A (p.Cys111Ser)
|
rs747124026
|
0.00004
|
|
NM_006859.4(LIAS):c.779G>A (p.Arg260His)
|
rs367701436
|
0.00004
|
|
NM_012434.5(SLC17A5):c.646C>G (p.Leu216Val)
|
rs781359811
|
0.00004
|
|
NM_012434.5(SLC17A5):c.704C>T (p.Thr235Ile)
|
rs540645365
|
0.00004
|
|
NM_016203.4(PRKAG2):c.488C>T (p.Pro163Leu)
|
rs876657963
|
0.00004
|
|
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu)
|
rs145669999
|
0.00004
|
|
NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu)
|
rs368637364
|
0.00004
|
|
NM_016219.5(MAN1B1):c.1507G>A (p.Glu503Lys)
|
rs757690679
|
0.00004
|
|
NM_021957.4(GYS2):c.470C>T (p.Ser157Phe)
|
rs774019135
|
0.00004
|
|
NM_021957.4(GYS2):c.50A>G (p.Gln17Arg)
|
rs376935348
|
0.00004
|
|
NM_024989.4(PGAP1):c.1721G>A (p.Arg574Gln)
|
rs769577378
|
0.00004
|
|
NM_024989.4(PGAP1):c.2408G>A (p.Arg803His)
|
rs745554603
|
0.00004
|
|
NM_031229.4(RBCK1):c.1055G>A (p.Arg352Gln)
|
rs776253021
|
0.00004
|
|
NM_031229.4(RBCK1):c.132A>T (p.Gln44His)
|
rs145132343
|
0.00004
|
|
NM_031229.4(RBCK1):c.1480C>T (p.Arg494Cys)
|
rs749184826
|
0.00004
|
|
NM_031229.4(RBCK1):c.1489G>A (p.Val497Ile)
|
rs371527119
|
0.00004
|
|
NM_031229.4(RBCK1):c.59C>T (p.Ala20Val)
|
rs780587700
|
0.00004
|
|
NM_031229.4(RBCK1):c.807C>G (p.Asp269Glu)
|
rs111283441
|
0.00004
|
|
NM_031229.4(RBCK1):c.833A>T (p.Glu278Val)
|
rs758729708
|
0.00004
|
|
NM_031229.4(RBCK1):c.940C>T (p.Arg314Cys)
|
rs144105841
|
0.00004
|
|
NM_031229.4(RBCK1):c.941G>A (p.Arg314His)
|
rs759203606
|
0.00004
|
|
NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln)
|
rs368957453
|
0.00004
|
|
NM_033159.4(HYAL1):c.14T>C (p.Leu5Pro)
|
rs138329304
|
0.00004
|
|
NM_053013.4(ENO3):c.548G>A (p.Arg183His)
|
rs756594079
|
0.00004
|
|
NM_053013.4(ENO3):c.64G>A (p.Val22Met)
|
rs148673221
|
0.00004
|
|
NM_053013.4(ENO3):c.806G>A (p.Arg269Gln)
|
rs754758809
|
0.00004
|
|
NM_053013.4(ENO3):c.83A>C (p.Lys28Thr)
|
rs751639631
|
0.00004
|
|
NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe)
|
rs369280586
|
0.00004
|
|
NM_152419.3(HGSNAT):c.1250+6C>T
|
rs762012939
|
0.00004
|
|
NM_152419.3(HGSNAT):c.1793A>G (p.Lys598Arg)
|
rs553588867
|
0.00004
|
|
NM_152419.3(HGSNAT):c.1805A>G (p.Asn602Ser)
|
rs754415813
|
0.00004
|
|
NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile)
|
rs374287774
|
0.00004
|
|
NM_152419.3(HGSNAT):c.461C>G (p.Ala154Gly)
|
rs373688314
|
0.00004
|
|
NM_152419.3(HGSNAT):c.826A>G (p.Thr276Ala)
|
rs201952563
|
0.00004
|
|
NM_152419.3(HGSNAT):c.827C>G (p.Thr276Arg)
|
rs751331792
|
0.00004
|
|
NM_152419.3(HGSNAT):c.995A>G (p.Asn332Ser)
|
rs374892647
|
0.00004
|
|
NM_198586.3(NHLRC1):c.1064C>T (p.Pro355Leu)
|
rs144863228
|
0.00004
|
|
NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr)
|
rs370044232
|
0.00004
|
|
NM_198586.3(NHLRC1):c.424G>C (p.Val142Leu)
|
rs376655413
|
0.00004
|
|
NM_000027.4(AGA):c.854C>T (p.Ala285Val)
|
rs763018918
|
0.00003
|
|
NM_000035.4(ALDOB):c.517C>T (p.Arg173Cys)
|
rs778058461
|
0.00003
|
|
NM_000046.5(ARSB):c.1502G>A (p.Arg501His)
|
rs190643827
|
0.00003
|
|
NM_000046.5(ARSB):c.29C>T (p.Pro10Leu)
|
rs757310157
|
0.00003
|
|
NM_000046.5(ARSB):c.401A>G (p.Lys134Arg)
|
rs371631385
|
0.00003
|
|
NM_000046.5(ARSB):c.43C>G (p.Pro15Ala)
|
rs778159305
|
0.00003
|
|
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys)
|
rs763303046
|
0.00003
|
|
NM_000108.5(DLD):c.92C>G (p.Pro31Arg)
|
rs776872575
|
0.00003
|
|
NM_000147.5(FUCA1):c.1190C>T (p.Ala397Val)
|
rs766121368
|
0.00003
|
|
NM_000147.5(FUCA1):c.492G>C (p.Leu164Phe)
|
rs754110650
|
0.00003
|
|
NM_000147.5(FUCA1):c.923G>A (p.Arg308His)
|
rs372537257
|
0.00003
|
|
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys)
|
rs767821988
|
0.00003
|
|
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp)
|
rs776704385
|
0.00003
|
|
NM_000152.5(GAA):c.1417G>A (p.Gly473Ser)
|
rs201409613
|
0.00003
|
|
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala)
|
rs886043976
|
0.00003
|
|
NM_000152.5(GAA):c.1661C>T (p.Ala554Val)
|
rs772260861
|
0.00003
|
|
NM_000152.5(GAA):c.17C>T (p.Pro6Leu)
|
rs771409180
|
0.00003
|
|
NM_000152.5(GAA):c.1849G>A (p.Val617Met)
|
rs767977395
|
0.00003
|
|
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
|
rs763301606
|
0.00003
|
|
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)
|
rs752735168
|
0.00003
|
|
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu)
|
rs532624326
|
0.00003
|
|
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala)
|
rs201485261
|
0.00003
|
|
NM_000152.5(GAA):c.2656G>A (p.Val886Met)
|
rs372802420
|
0.00003
|
|
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser)
|
rs375021198
|
0.00003
|
|
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe)
|
rs769312350
|
0.00003
|
|
NM_000152.5(GAA):c.292A>T (p.Ile98Phe)
|
rs745963730
|
0.00003
|
|
NM_000152.5(GAA):c.319G>A (p.Gly107Ser)
|
rs151323405
|
0.00003
|
|
NM_000152.5(GAA):c.31C>T (p.Arg11Trp)
|
rs772394815
|
0.00003
|
|
NM_000152.5(GAA):c.426C>A (p.Ser142Arg)
|
rs762255493
|
0.00003
|
|
NM_000152.5(GAA):c.686G>A (p.Arg229His)
|
rs776509432
|
0.00003
|
|
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys)
|
rs200509552
|
0.00003
|
|
NM_000154.2(GALK1):c.382G>A (p.Val128Met)
|
rs767156604
|
0.00003
|
|
NM_000154.2(GALK1):c.552C>G (p.Ile184Met)
|
rs773416476
|
0.00003
|
|
NM_000154.2(GALK1):c.94G>A (p.Val32Met)
|
rs104894576
|
0.00003
|
|
NM_000158.4(GBE1):c.143+6G>A
|
rs371048718
|
0.00003
|
|
NM_000158.4(GBE1):c.153G>C (p.Gln51His)
|
rs760281369
|
0.00003
|
|
NM_000158.4(GBE1):c.20C>T (p.Pro7Leu)
|
rs765422566
|
0.00003
|
|
NM_000158.4(GBE1):c.293T>G (p.Val98Gly)
|
rs775486403
|
0.00003
|
|
NM_000158.4(GBE1):c.43G>A (p.Glu15Lys)
|
rs774709930
|
0.00003
|
|
NM_000158.4(GBE1):c.583C>T (p.Arg195Trp)
|
rs371086146
|
0.00003
|
|
NM_000181.4(GUSB):c.1796C>T (p.Thr599Met)
|
rs765983374
|
0.00003
|
|
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp)
|
rs121918176
|
0.00003
|
|
NM_000199.5(SGSH):c.1303C>T (p.Arg435Cys)
|
rs373496399
|
0.00003
|
|
NM_000199.5(SGSH):c.1361A>T (p.Asp454Val)
|
rs145490072
|
0.00003
|
|
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile)
|
rs764585957
|
0.00003
|
|
NM_000199.5(SGSH):c.391G>A (p.Val131Met)
|
rs370636303
|
0.00003
|
|
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp)
|
rs756193095
|
0.00003
|
|
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu)
|
rs570170198
|
0.00003
|
|
NM_000203.5(IDUA):c.1622G>T (p.Cys541Phe)
|
rs950213013
|
0.00003
|
|
NM_000203.5(IDUA):c.1772C>T (p.Ala591Val)
|
rs138826105
|
0.00003
|
|
NM_000262.3(NAGA):c.110G>A (p.Arg37His)
|
rs199834981
|
0.00003
|
|
NM_000262.3(NAGA):c.638G>A (p.Arg213His)
|
rs781499383
|
0.00003
|
|
NM_000263.4(NAGLU):c.1285G>A (p.Ala429Thr)
|
rs372165410
|
0.00003
|
|
NM_000263.4(NAGLU):c.1786G>T (p.Gly596Cys)
|
rs772901588
|
0.00003
|
|
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln)
|
rs376545731
|
0.00003
|
|
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
|
rs774971794
|
0.00003
|
|
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)
|
rs141018386
|
0.00003
|
|
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val)
|
rs144771528
|
0.00003
|
|
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu)
|
rs750625891
|
0.00003
|
|
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile)
|
rs774425888
|
0.00003
|
|
NM_000289.6(PFKM):c.500A>G (p.Asn167Ser)
|
rs143485300
|
0.00003
|
|
NM_000290.4(PGAM2):c.719G>A (p.Arg240Gln)
|
rs369482159
|
0.00003
|
|
NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn)
|
rs778051353
|
0.00003
|
|
NM_000292.3(PHKA2):c.1603G>A (p.Asp535Asn)
|
rs756254299
|
0.00003
|
|
NM_000292.3(PHKA2):c.200G>A (p.Arg67His)
|
rs768524028
|
0.00003
|
|
NM_000293.3(PHKB):c.604A>G (p.Ile202Val)
|
rs367667135
|
0.00003
|
|
NM_000293.3(PHKB):c.914T>C (p.Phe305Ser)
|
rs746454503
|
0.00003
|
|
NM_000294.3(PHKG2):c.1030C>T (p.Arg344Trp)
|
rs564686049
|
0.00003
|
|
NM_000294.3(PHKG2):c.152C>T (p.Ala51Val)
|
rs770253840
|
0.00003
|
|
NM_000294.3(PHKG2):c.911C>A (p.Pro304His)
|
rs781099286
|
0.00003
|
|
NM_000308.4(CTSA):c.-17G>A
|
rs372800409
|
0.00003
|
|
NM_000308.4(CTSA):c.-6G>A
|
rs1471695726
|
0.00003
|
|
NM_000308.4(CTSA):c.1040G>A (p.Arg347Gln)
|
rs375345060
|
0.00003
|
|
NM_000308.4(CTSA):c.1124G>A (p.Arg375Gln)
|
rs370763298
|
0.00003
|
|
NM_000308.4(CTSA):c.1268G>A (p.Arg423His)
|
rs754739494
|
0.00003
|
|
NM_000308.4(CTSA):c.1315G>A (p.Gly439Ser)
|
rs137854547
|
0.00003
|
|
NM_000343.4(SLC5A1):c.44G>A (p.Arg15Gln)
|
rs142249046
|
0.00003
|
|
NM_000343.4(SLC5A1):c.919A>G (p.Met307Val)
|
rs767572551
|
0.00003
|
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
|
NM_000404.4(GLB1):c.1915G>A (p.Val639Met)
|
rs1222326938
|
0.00003
|
|
NM_000404.4(GLB1):c.4C>A (p.Pro2Thr)
|
rs772539129
|
0.00003
|
|
NM_000512.5(GALNS):c.1198G>A (p.Ala400Thr)
|
rs2303270
|
0.00003
|
|
NM_000512.5(GALNS):c.1238G>A (p.Arg413Lys)
|
rs374798170
|
0.00003
|
|
NM_000512.5(GALNS):c.640C>G (p.Leu214Val)
|
rs1424752390
|
0.00003
|
|
NM_000512.5(GALNS):c.664C>T (p.Arg222Trp)
|
rs146963745
|
0.00003
|
|
NM_000512.5(GALNS):c.709G>A (p.Ala237Thr)
|
rs550139020
|
0.00003
|
|
NM_000512.5(GALNS):c.772G>A (p.Val258Ile)
|
rs779257235
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1022C>T (p.Ala341Val)
|
rs574049175
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1230+5G>T
|
rs1398531876
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu)
|
rs141650075
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1444C>T (p.Arg482Trp)
|
rs533428309
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1753C>T (p.Arg585Cys)
|
rs764543590
|
0.00003
|
|
NM_000528.4(MAN2B1):c.179C>T (p.Pro60Leu)
|
rs145163643
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val)
|
rs967834240
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2270G>A (p.Arg757Gln)
|
rs772264672
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2355+6T>A
|
rs1052970162
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2639A>G (p.Asn880Ser)
|
rs1466468362
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2864C>T (p.Thr955Met)
|
rs771210668
|
0.00003
|
|
NM_000528.4(MAN2B1):c.785A>G (p.Asn262Ser)
|
rs944317989
|
0.00003
|
|
NM_000642.3(AGL):c.1042G>A (p.Val348Ile)
|
rs544658310
|
0.00003
|
|
NM_000642.3(AGL):c.1864A>C (p.Met622Leu)
|
rs145517369
|
0.00003
|
|
NM_000642.3(AGL):c.1936A>G (p.Ile646Val)
|
rs376666809
|
0.00003
|
|
NM_000642.3(AGL):c.2024G>A (p.Arg675Gln)
|
rs752995564
|
0.00003
|
|
NM_000642.3(AGL):c.2069G>T (p.Gly690Val)
|
rs749075109
|
0.00003
|
|
NM_000642.3(AGL):c.224A>G (p.Asp75Gly)
|
rs142368729
|
0.00003
|
|
NM_000642.3(AGL):c.2402A>G (p.Asp801Gly)
|
rs778492877
|
0.00003
|
|
NM_000642.3(AGL):c.2488G>C (p.Glu830Gln)
|
rs752153469
|
0.00003
|
|
NM_000642.3(AGL):c.2575G>A (p.Ala859Thr)
|
rs773083396
|
0.00003
|
|
NM_000642.3(AGL):c.2654A>G (p.Asp885Gly)
|
rs867149434
|
0.00003
|
|
NM_000642.3(AGL):c.2903A>G (p.Asp968Gly)
|
rs1447342458
|
0.00003
|
|
NM_000642.3(AGL):c.294A>G (p.Gly98=)
|
rs746550765
|
0.00003
|
|
NM_000642.3(AGL):c.30A>T (p.Leu10Phe)
|
rs746137555
|
0.00003
|
|
NM_000642.3(AGL):c.3242G>A (p.Cys1081Tyr)
|
rs147375385
|
0.00003
|
|
NM_000642.3(AGL):c.3346C>T (p.Arg1116Cys)
|
rs773625464
|
0.00003
|
|
NM_000642.3(AGL):c.3437C>T (p.Ala1146Val)
|
rs867496787
|
0.00003
|
|
NM_000642.3(AGL):c.3532C>T (p.Pro1178Ser)
|
rs769812980
|
0.00003
|
|
NM_000642.3(AGL):c.3546G>T (p.Met1182Ile)
|
rs758562610
|
0.00003
|
|
NM_000642.3(AGL):c.3611T>C (p.Ile1204Thr)
|
rs777686689
|
0.00003
|
|
NM_000642.3(AGL):c.3677T>C (p.Ile1226Thr)
|
rs749118487
|
0.00003
|
|
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp)
|
rs749445010
|
0.00003
|
|
NM_000642.3(AGL):c.4124A>G (p.Tyr1375Cys)
|
rs886042149
|
0.00003
|
|
NM_000642.3(AGL):c.4283A>C (p.Tyr1428Ser)
|
rs150532164
|
0.00003
|
|
NM_000642.3(AGL):c.736C>G (p.Pro246Ala)
|
rs370391954
|
0.00003
|
|
NM_000642.3(AGL):c.959-3T>A
|
rs374766709
|
0.00003
|
|
NM_000891.3(KCNJ2):c.1205C>T (p.Thr402Met)
|
rs759070406
|
0.00003
|
|
NM_000891.3(KCNJ2):c.23G>A (p.Arg8His)
|
rs140090605
|
0.00003
|
|
NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr)
|
rs375646186
|
0.00003
|
|
NM_000925.4(PDHB):c.641C>T (p.Pro214Leu)
|
rs752056463
|
0.00003
|
|
NM_001008216.2(GALE):c.652G>A (p.Gly218Arg)
|
rs747453873
|
0.00003
|
|
NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys)
|
rs780393850
|
0.00003
|
|
NM_001040716.2(PC):c.2128G>A (p.Val710Met)
|
rs749176333
|
0.00003
|
|
NM_001040716.2(PC):c.3064G>A (p.Asp1022Asn)
|
rs747786536
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.141T>G (p.Asp47Glu)
|
rs373540523
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe)
|
rs750732128
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe)
|
rs775311483
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His)
|
rs377180238
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.878T>C (p.Leu293Pro)
|
rs886042302
|
0.00003
|
|
NM_001243177.4(ALDOA):c.1129G>T (p.Ala377Ser)
|
rs148828956
|
0.00003
|
|
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys)
|
rs145582724
|
0.00003
|
|
NM_001352514.2(HLCS):c.1122A>C (p.Glu374Asp)
|
rs780469041
|
0.00003
|
|
NM_001352514.2(HLCS):c.1237A>C (p.Thr413Pro)
|
rs747122714
|
0.00003
|
|
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly)
|
rs778061862
|
0.00003
|
|
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
|
rs556454789
|
0.00003
|
|
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
|
rs140014588
|
0.00003
|
|
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn)
|
rs148426470
|
0.00003
|
|
NM_001360016.2(G6PD):c.864+5G>A
|
rs372876649
|
0.00003
|
|
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)
|
rs397514400
|
0.00003
|
|
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)
|
rs200337373
|
0.00003
|
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
|
NM_001739.2(CA5A):c.287G>C (p.Trp96Ser)
|
rs766339583
|
0.00003
|
|
NM_002076.4(GNS):c.1153G>A (p.Asp385Asn)
|
rs138335335
|
0.00003
|
|
NM_002076.4(GNS):c.676T>G (p.Phe226Val)
|
rs1283873163
|
0.00003
|
|
NM_002103.5(GYS1):c.1057C>T (p.Leu353Phe)
|
rs761016746
|
0.00003
|
|
NM_002103.5(GYS1):c.1102A>G (p.Met368Val)
|
rs1239694022
|
0.00003
|
|
NM_002103.5(GYS1):c.152C>T (p.Ala51Val)
|
rs780821674
|
0.00003
|
|
NM_002103.5(GYS1):c.178G>A (p.Asp60Asn)
|
rs781563966
|
0.00003
|
|
NM_002103.5(GYS1):c.2092T>C (p.Ser698Pro)
|
rs147627546
|
0.00003
|
|
NM_002103.5(GYS1):c.2105C>T (p.Ser702Phe)
|
rs1375243403
|
0.00003
|
|
NM_002103.5(GYS1):c.2122C>G (p.Arg708Gly)
|
rs776737199
|
0.00003
|
|
NM_002103.5(GYS1):c.425C>T (p.Pro142Leu)
|
rs1045006240
|
0.00003
|
|
NM_002103.5(GYS1):c.500C>A (p.Ala167Glu)
|
rs1199465827
|
0.00003
|
|
NM_002103.5(GYS1):c.678C>T (p.Asn226=)
|
rs760384808
|
0.00003
|
|
NM_002294.3(LAMP2):c.1126C>A (p.Leu376Ile)
|
rs1006753991
|
0.00003
|
|
NM_002294.3(LAMP2):c.204C>G (p.Asp68Glu)
|
rs376215728
|
0.00003
|
|
NM_002294.3(LAMP2):c.320C>G (p.Ser107Cys)
|
rs730880497
|
0.00003
|
|
NM_002294.3(LAMP2):c.398-3T>C
|
rs1045629648
|
0.00003
|
|
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val)
|
rs1362738445
|
0.00003
|
|
NM_002294.3(LAMP2):c.999A>C (p.Lys333Asn)
|
rs1341268966
|
0.00003
|
|
NM_002637.4(PHKA1):c.1297G>A (p.Val433Ile)
|
rs369136290
|
0.00003
|
|
NM_002637.4(PHKA1):c.2006C>T (p.Ala669Val)
|
rs1556276769
|
0.00003
|
|
NM_002637.4(PHKA1):c.2480G>A (p.Arg827Gln)
|
rs370717042
|
0.00003
|
|
NM_002637.4(PHKA1):c.2725C>G (p.Pro909Ala)
|
rs1179242925
|
0.00003
|
|
NM_002637.4(PHKA1):c.3371G>A (p.Arg1124His)
|
rs782546754
|
0.00003
|
|
NM_002637.4(PHKA1):c.3436G>A (p.Gly1146Arg)
|
rs782068991
|
0.00003
|
|
NM_002637.4(PHKA1):c.3631G>A (p.Val1211Met)
|
rs1025423127
|
0.00003
|
|
NM_002863.5(PYGL):c.1598G>A (p.Arg533Gln)
|
rs778002035
|
0.00003
|
|
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys)
|
rs113993984
|
0.00003
|
|
NM_003384.3(VRK1):c.1117A>G (p.Thr373Ala)
|
rs199759408
|
0.00003
|
|
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met)
|
rs369917766
|
0.00003
|
|
NM_003384.3(VRK1):c.1180G>A (p.Val394Ile)
|
rs1392561922
|
0.00003
|
|
NM_003384.3(VRK1):c.307C>T (p.Arg103Cys)
|
rs755450815
|
0.00003
|
|
NM_004130.4(GYG1):c.716A>C (p.Asn239Thr)
|
rs759134229
|
0.00003
|
|
NM_005271.5(GLUD1):c.1568G>A (p.Arg523His)
|
rs761933718
|
0.00003
|
|
NM_005327.7(HADH):c.325G>A (p.Val109Ile)
|
rs199810422
|
0.00003
|
|
NM_005327.7(HADH):c.47C>T (p.Ser16Phe)
|
rs374248298
|
0.00003
|
|
NM_005327.7(HADH):c.889G>A (p.Val297Ile)
|
rs376876153
|
0.00003
|
|
NM_005609.4(PYGM):c.1343C>T (p.Ala448Val)
|
rs370291854
|
0.00003
|
|
NM_005609.4(PYGM):c.1492C>T (p.Pro498Ser)
|
rs200101718
|
0.00003
|
|
NM_005609.4(PYGM):c.1580A>G (p.Asp527Gly)
|
rs775496411
|
0.00003
|
|
NM_005609.4(PYGM):c.527A>C (p.Gln176Pro)
|
rs747495987
|
0.00003
|
|
NM_005609.4(PYGM):c.64G>A (p.Val22Met)
|
rs140731551
|
0.00003
|
|
NM_005908.4(MANBA):c.163C>G (p.Gln55Glu)
|
rs758643729
|
0.00003
|
|
NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn)
|
rs376012848
|
0.00003
|
|
NM_005908.4(MANBA):c.61C>T (p.Leu21Phe)
|
rs139936532
|
0.00003
|
|
NM_006859.4(LIAS):c.110A>T (p.Glu37Val)
|
rs763606110
|
0.00003
|
|
NM_006859.4(LIAS):c.122A>G (p.Asn41Ser)
|
rs761295906
|
0.00003
|
|
NM_006859.4(LIAS):c.376G>A (p.Ala126Thr)
|
rs74528014
|
0.00003
|
|
NM_006859.4(LIAS):c.473G>C (p.Ser158Thr)
|
rs751421705
|
0.00003
|
|
NM_006859.4(LIAS):c.877A>G (p.Met293Val)
|
rs943564525
|
0.00003
|
|
NM_012434.5(SLC17A5):c.1192A>G (p.Ile398Val)
|
rs374771372
|
0.00003
|
|
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro)
|
rs758230758
|
0.00003
|
|
NM_016042.4(EXOSC3):c.475-12A>G
|
rs370087266
|
0.00003
|
|
NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met)
|
rs565320740
|
0.00003
|
|
NM_016203.4(PRKAG2):c.361A>G (p.Met121Val)
|
rs760511236
|
0.00003
|
|
NM_016203.4(PRKAG2):c.66C>T (p.Gly22=)
|
rs730880971
|
0.00003
|
|
NM_016203.4(PRKAG2):c.945A>G (p.Val315=)
|
rs759393540
|
0.00003
|
|
NM_016219.5(MAN1B1):c.1556G>T (p.Ser519Ile)
|
rs763074368
|
0.00003
|
|
NM_016219.5(MAN1B1):c.1895G>A (p.Arg632Gln)
|
rs368503703
|
0.00003
|
|
NM_021957.4(GYS2):c.1745G>A (p.Arg582Lys)
|
rs369069984
|
0.00003
|
|
NM_021957.4(GYS2):c.1774C>G (p.Leu592Val)
|
rs202136674
|
0.00003
|
|
NM_024989.4(PGAP1):c.1089C>T (p.Asn363=)
|
rs766852236
|
0.00003
|
|
NM_024989.4(PGAP1):c.153A>G (p.Ile51Met)
|
rs777153886
|
0.00003
|
|
NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val)
|
rs201002323
|
0.00003
|
|
NM_024989.4(PGAP1):c.1843T>A (p.Tyr615Asn)
|
rs771805552
|
0.00003
|
|
NM_024989.4(PGAP1):c.659C>T (p.Thr220Met)
|
rs774987863
|
0.00003
|
|
NM_031229.4(RBCK1):c.1028C>T (p.Ala343Val)
|
rs1232409954
|
0.00003
|
|
NM_031229.4(RBCK1):c.1285C>T (p.Arg429Trp)
|
rs764244683
|
0.00003
|
|
NM_031229.4(RBCK1):c.1297G>C (p.Glu433Gln)
|
rs754890674
|
0.00003
|
|
NM_031229.4(RBCK1):c.1346A>G (p.Gln449Arg)
|
rs371077650
|
0.00003
|
|
NM_031229.4(RBCK1):c.256G>C (p.Asp86His)
|
rs759833242
|
0.00003
|
|
NM_031229.4(RBCK1):c.326G>A (p.Arg109Gln)
|
rs568820415
|
0.00003
|
|
NM_031229.4(RBCK1):c.338C>T (p.Thr113Ile)
|
rs372591105
|
0.00003
|
|
NM_031229.4(RBCK1):c.473A>G (p.Lys158Arg)
|
rs772796019
|
0.00003
|
|
NM_031229.4(RBCK1):c.482C>T (p.Thr161Met)
|
rs766841580
|
0.00003
|
|
NM_031229.4(RBCK1):c.64G>A (p.Gly22Arg)
|
rs546711324
|
0.00003
|
|
NM_031229.4(RBCK1):c.699C>G (p.Asp233Glu)
|
rs746724862
|
0.00003
|
|
NM_033159.4(HYAL1):c.108G>C (p.Trp36Cys)
|
rs782450263
|
0.00003
|
|
NM_053013.4(ENO3):c.774T>G (p.Asp258Glu)
|
rs763327091
|
0.00003
|
|
NM_053013.4(ENO3):c.927G>A (p.Ser309=)
|
rs142501820
|
0.00003
|
|
NM_152419.3(HGSNAT):c.1093C>T (p.Leu365Phe)
|
rs995331214
|
0.00003
|
|
NM_152419.3(HGSNAT):c.1127C>T (p.Ser376Leu)
|
rs762498109
|
0.00003
|
|
NM_152419.3(HGSNAT):c.1441G>T (p.Val481Leu)
|
rs746875137
|
0.00003
|
|
NM_152419.3(HGSNAT):c.317A>G (p.Gln106Arg)
|
rs368082613
|
0.00003
|
|
NM_152419.3(HGSNAT):c.328A>G (p.Ile110Val)
|
rs138736400
|
0.00003
|
|
NM_152419.3(HGSNAT):c.907C>T (p.Arg303Trp)
|
rs375524490
|
0.00003
|
|
NM_198586.3(NHLRC1):c.1072A>G (p.Met358Val)
|
rs765443391
|
0.00003
|
|
NM_198586.3(NHLRC1):c.1087C>G (p.Leu363Val)
|
rs1275828844
|
0.00003
|
|
NM_198586.3(NHLRC1):c.122C>A (p.Pro41Gln)
|
rs759908693
|
0.00003
|
|
NM_198586.3(NHLRC1):c.337G>A (p.Ala113Thr)
|
rs570505924
|
0.00003
|
|
NM_000027.4(AGA):c.987G>C (p.Met329Ile)
|
rs774051527
|
0.00002
|
|
NM_000046.5(ARSB):c.1198G>T (p.Val400Leu)
|
rs570630772
|
0.00002
|
|
NM_000046.5(ARSB):c.1387C>A (p.Pro463Thr)
|
rs748137130
|
0.00002
|
|
NM_000046.5(ARSB):c.176A>G (p.Asp59Gly)
|
rs1179935748
|
0.00002
|
|
NM_000108.5(DLD):c.1440A>G (p.Ile480Met)
|
rs772512477
|
0.00002
|
|
NM_000108.5(DLD):c.901G>A (p.Ala301Thr)
|
rs1466290130
|
0.00002
|
|
NM_000151.4(G6PC1):c.431C>T (p.Pro144Leu)
|
rs1470923557
|
0.00002
|
|
NM_000152.5(GAA):c.1147A>G (p.Ile383Val)
|
rs794727837
|
0.00002
|
|
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys)
|
rs749186162
|
0.00002
|
|
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln)
|
rs748788550
|
0.00002
|
|
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys)
|
rs771213237
|
0.00002
|
|
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp)
|
rs199748889
|
0.00002
|
|
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln)
|
rs886053545
|
0.00002
|
|
NM_000152.5(GAA):c.1437+6G>A
|
rs754249803
|
0.00002
|
|
NM_000152.5(GAA):c.1544T>C (p.Met515Thr)
|
rs1338245575
|
0.00002
|
|
NM_000152.5(GAA):c.1936G>A (p.Val646Ile)
|
rs770029932
|
0.00002
|
|
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser)
|
rs774307734
|
0.00002
|
|
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg)
|
rs148412962
|
0.00002
|
|
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser)
|
rs1365945556
|
0.00002
|
|
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser)
|
rs745378120
|
0.00002
|
|
NM_000152.5(GAA):c.2597A>T (p.Glu866Val)
|
rs951742543
|
0.00002
|
|
NM_000152.5(GAA):c.280C>A (p.Pro94Thr)
|
rs749496973
|
0.00002
|
|
NM_000152.5(GAA):c.370C>G (p.Gln124Glu)
|
rs1291571294
|
0.00002
|
|
NM_000152.5(GAA):c.412C>G (p.Leu138Val)
|
rs761221259
|
0.00002
|
|
NM_000152.5(GAA):c.446C>T (p.Thr149Met)
|
rs750628023
|
0.00002
|
|
NM_000152.5(GAA):c.614C>T (p.Pro205Leu)
|
rs775065551
|
0.00002
|
|
NM_000152.5(GAA):c.685C>T (p.Arg229Cys)
|
rs375295347
|
0.00002
|
|
NM_000152.5(GAA):c.859C>T (p.Pro287Ser)
|
rs369735511
|
0.00002
|
|
NM_000152.5(GAA):c.866C>T (p.Ala289Val)
|
rs145903608
|
0.00002
|
|
NM_000152.5(GAA):c.899C>T (p.Ala300Val)
|
rs1032949450
|
0.00002
|
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
|
NM_000152.5(GAA):c.979G>A (p.Ala327Thr)
|
rs756562462
|
0.00002
|
|
NM_000154.2(GALK1):c.1025G>A (p.Arg342His)
|
rs867405975
|
0.00002
|
|
NM_000154.2(GALK1):c.116A>G (p.Asn39Ser)
|
rs536209426
|
0.00002
|
|
NM_000154.2(GALK1):c.836G>A (p.Arg279Gln)
|
rs779054525
|
0.00002
|
|
NM_000154.2(GALK1):c.928A>G (p.Ser310Gly)
|
rs201681295
|
0.00002
|
|
NM_000155.4(GALT):c.803C>A (p.Thr268Asn)
|
rs111033847
|
0.00002
|
|
NM_000158.4(GBE1):c.1222A>G (p.Ile408Val)
|
rs760095778
|
0.00002
|
|
NM_000158.4(GBE1):c.1726C>T (p.Arg576Cys)
|
rs183019204
|
0.00002
|
|
NM_000158.4(GBE1):c.1781A>G (p.Tyr594Cys)
|
rs370246900
|
0.00002
|
|
NM_000158.4(GBE1):c.1888A>G (p.Ser630Gly)
|
rs758683393
|
0.00002
|
|
NM_000158.4(GBE1):c.292G>C (p.Val98Leu)
|
rs762945205
|
0.00002
|
|
NM_000158.4(GBE1):c.535G>A (p.Asp179Asn)
|
rs758425725
|
0.00002
|
|
NM_000181.4(GUSB):c.1270C>A (p.His424Asn)
|
rs866996794
|
0.00002
|
|
NM_000181.4(GUSB):c.1790-2dup
|
rs764071830
|
0.00002
|
|
NM_000181.4(GUSB):c.1942A>C (p.Ser648Arg)
|
rs776024156
|
0.00002
|
|
NM_000181.4(GUSB):c.553A>C (p.Thr185Pro)
|
rs755465262
|
0.00002
|
|
NM_000181.4(GUSB):c.697G>A (p.Val233Ile)
|
rs202210104
|
0.00002
|
|
NM_000199.5(SGSH):c.1259C>T (p.Pro420Leu)
|
rs150222010
|
0.00002
|
|
NM_000199.5(SGSH):c.1325G>A (p.Ser442Asn)
|
rs1047935424
|
0.00002
|
|
NM_000199.5(SGSH):c.136G>A (p.Ala46Thr)
|
rs772636496
|
0.00002
|
|
NM_000199.5(SGSH):c.478C>T (p.Arg160Trp)
|
rs189571889
|
0.00002
|
|
NM_000199.5(SGSH):c.527C>A (p.Ala176Asp)
|
rs760996554
|
0.00002
|
|
NM_000199.5(SGSH):c.574A>G (p.Thr192Ala)
|
rs764278674
|
0.00002
|
|
NM_000199.5(SGSH):c.65C>T (p.Pro22Leu)
|
rs1212600929
|
0.00002
|
|
NM_000199.5(SGSH):c.683A>G (p.Asn228Ser)
|
rs771177142
|
0.00002
|
|
NM_000199.5(SGSH):c.689C>T (p.Pro230Leu)
|
rs748671633
|
0.00002
|
|
NM_000199.5(SGSH):c.698G>A (p.Arg233Gln)
|
rs370291256
|
0.00002
|
|
NM_000199.5(SGSH):c.727G>A (p.Val243Ile)
|
rs770944322
|
0.00002
|
|
NM_000202.8(IDS):c.1261C>T (p.Arg421Cys)
|
rs781825818
|
0.00002
|
|
NM_000202.8(IDS):c.1478G>A (p.Arg493His)
|
rs782347729
|
0.00002
|
|
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys)
|
rs950667822
|
0.00002
|
|
NM_000203.5(IDUA):c.1195G>A (p.Glu399Lys)
|
rs1034769935
|
0.00002
|
|
NM_000203.5(IDUA):c.1247A>C (p.His416Pro)
|
rs1419725967
|
0.00002
|
|
NM_000203.5(IDUA):c.1349C>A (p.Pro450His)
|
rs895626490
|
0.00002
|
|
NM_000203.5(IDUA):c.1529C>T (p.Pro510Leu)
|
rs794727017
|
0.00002
|
|
NM_000203.5(IDUA):c.1828+5G>A
|
rs565649151
|
0.00002
|
|
NM_000262.3(NAGA):c.1111G>A (p.Val371Ile)
|
rs755283571
|
0.00002
|
|
NM_000262.3(NAGA):c.358G>A (p.Ala120Thr)
|
rs749506008
|
0.00002
|
|
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile)
|
rs749140168
|
0.00002
|
|
NM_000263.4(NAGLU):c.1559G>A (p.Arg520Gln)
|
rs1207098238
|
0.00002
|
|
NM_000263.4(NAGLU):c.1703T>G (p.Val568Gly)
|
rs777283283
|
0.00002
|
|
NM_000263.4(NAGLU):c.647C>G (p.Pro216Arg)
|
rs750276054
|
0.00002
|
|
NM_000263.4(NAGLU):c.682C>T (p.Arg228Trp)
|
rs368907396
|
0.00002
|
|
NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg)
|
rs373275701
|
0.00002
|
|
NM_000289.6(PFKM):c.1115A>G (p.Lys372Arg)
|
rs375592512
|
0.00002
|
|
NM_000289.6(PFKM):c.1191+6G>T
|
rs779486374
|
0.00002
|
|
NM_000289.6(PFKM):c.140G>A (p.Arg47His)
|
rs748718049
|
0.00002
|
|
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala)
|
rs121918194
|
0.00002
|
|
NM_000289.6(PFKM):c.1663C>T (p.Arg555Cys)
|
rs763839998
|
0.00002
|
|
NM_000289.6(PFKM):c.262C>T (p.Arg88Trp)
|
rs757746489
|
0.00002
|
|
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala)
|
rs139800248
|
0.00002
|
|
NM_000290.4(PGAM2):c.365C>T (p.Pro122Leu)
|
rs147273213
|
0.00002
|
|
NM_000290.4(PGAM2):c.37G>A (p.Glu13Lys)
|
rs1026868358
|
0.00002
|
|
NM_000292.3(PHKA2):c.1724G>A (p.Gly575Asp)
|
rs757718008
|
0.00002
|
|
NM_000292.3(PHKA2):c.308A>G (p.Lys103Arg)
|
rs2048680804
|
0.00002
|
|
NM_000292.3(PHKA2):c.3111+5C>T
|
rs756217257
|
0.00002
|
|
NM_000292.3(PHKA2):c.448G>A (p.Ala150Thr)
|
rs750886848
|
0.00002
|
|
NM_000292.3(PHKA2):c.869G>A (p.Arg290His)
|
rs186632999
|
0.00002
|
|
NM_000293.3(PHKB):c.1120A>G (p.Ile374Val)
|
rs1243574468
|
0.00002
|
|
NM_000293.3(PHKB):c.1153G>A (p.Val385Ile)
|
rs981615352
|
0.00002
|
|
NM_000293.3(PHKB):c.134T>A (p.Leu45His)
|
rs762053276
|
0.00002
|
|
NM_000293.3(PHKB):c.1894A>G (p.Asn632Asp)
|
rs530842640
|
0.00002
|
|
NM_000294.3(PHKG2):c.959G>A (p.Arg320Gln)
|
rs756345604
|
0.00002
|
|
NM_000308.4(CTSA):c.-12G>C
|
rs770340993
|
0.00002
|
|
NM_000308.4(CTSA):c.1074A>T (p.Gln358His)
|
rs766994463
|
0.00002
|
|
NM_000308.4(CTSA):c.1081A>G (p.Met361Val)
|
rs752703552
|
0.00002
|
|
NM_000308.4(CTSA):c.1343C>T (p.Ala448Val)
|
rs185187245
|
0.00002
|
|
NM_000308.4(CTSA):c.1361G>T (p.Gly454Val)
|
rs373421813
|
0.00002
|
|
NM_000340.2(SLC2A2):c.866T>G (p.Val289Gly)
|
rs780873643
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1128T>C (p.Asn376=)
|
rs201834537
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1136G>A (p.Arg379Gln)
|
rs747215838
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1156A>G (p.Met386Val)
|
rs200964696
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1267A>G (p.Met423Val)
|
rs773967126
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1603G>A (p.Ala535Thr)
|
rs759726503
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1724C>T (p.Ala575Val)
|
rs185883847
|
0.00002
|
|
NM_000343.4(SLC5A1):c.188G>A (p.Arg63Gln)
|
rs200352654
|
0.00002
|
|
NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg)
|
rs777391124
|
0.00002
|
|
NM_000343.4(SLC5A1):c.623C>T (p.Thr208Met)
|
rs199872285
|
0.00002
|
|
NM_000343.4(SLC5A1):c.709A>C (p.Met237Leu)
|
rs766404734
|
0.00002
|
|
NM_000404.4(GLB1):c.1143+3A>C
|
rs759517360
|
0.00002
|
|
NM_000404.4(GLB1):c.2030T>G (p.Val677Gly)
|
rs767685019
|
0.00002
|
|
NM_000404.4(GLB1):c.859G>A (p.Glu287Lys)
|
rs748853764
|
0.00002
|
|
NM_000507.4(FBP1):c.721T>C (p.Tyr241His)
|
rs757338386
|
0.00002
|
|
NM_000512.5(GALNS):c.1087A>G (p.Ile363Val)
|
rs758802414
|
0.00002
|
|
NM_000512.5(GALNS):c.1100A>G (p.Asn367Ser)
|
rs150111302
|
0.00002
|
|
NM_000512.5(GALNS):c.1540A>G (p.Ile514Val)
|
rs201153945
|
0.00002
|
|
NM_000512.5(GALNS):c.245-11C>T
|
rs552476248
|
0.00002
|
|
NM_000512.5(GALNS):c.304G>A (p.Ala102Thr)
|
rs372585484
|
0.00002
|
|
NM_000512.5(GALNS):c.47T>G (p.Val16Gly)
|
rs794729202
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1100A>G (p.Asn367Ser)
|
rs771528526
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1453G>A (p.Gly485Ser)
|
rs377509266
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys)
|
rs199700264
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2659A>G (p.Thr887Ala)
|
rs1186717379
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)
|
rs768233248
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2945C>T (p.Pro982Leu)
|
rs376856949
|
0.00002
|
|
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys)
|
rs765088432
|
0.00002
|
|
NM_000528.4(MAN2B1):c.64T>C (p.Trp22Arg)
|
rs1329492928
|
0.00002
|
|
NM_000528.4(MAN2B1):c.659G>A (p.Arg220His)
|
rs1310537291
|
0.00002
|
|
NM_000642.3(AGL):c.1033G>A (p.Gly345Ser)
|
rs372121829
|
0.00002
|
|
NM_000642.3(AGL):c.1187C>T (p.Ala396Val)
|
rs747879201
|
0.00002
|
|
NM_000642.3(AGL):c.1280C>T (p.Thr427Ile)
|
rs897697440
|
0.00002
|
|
NM_000642.3(AGL):c.1422G>A (p.Pro474=)
|
rs144714696
|
0.00002
|
|
NM_000642.3(AGL):c.145A>G (p.Asn49Asp)
|
rs751982392
|
0.00002
|
|
NM_000642.3(AGL):c.1729A>G (p.Ile577Val)
|
rs762529905
|
0.00002
|
|
NM_000642.3(AGL):c.2053T>G (p.Leu685Val)
|
rs780518752
|
0.00002
|
|
NM_000642.3(AGL):c.2125C>T (p.His709Tyr)
|
rs1249716180
|
0.00002
|
|
NM_000642.3(AGL):c.2209C>T (p.Pro737Ser)
|
rs1369361901
|
0.00002
|
|
NM_000642.3(AGL):c.2386A>G (p.Ile796Val)
|
rs754127029
|
0.00002
|
|
NM_000642.3(AGL):c.2413G>A (p.Glu805Lys)
|
rs1368670677
|
0.00002
|
|
NM_000642.3(AGL):c.2506G>A (p.Glu836Lys)
|
rs781573434
|
0.00002
|
|
NM_000642.3(AGL):c.2632A>C (p.Ser878Arg)
|
rs146049603
|
0.00002
|
|
NM_000642.3(AGL):c.2897T>C (p.Met966Thr)
|
rs377540254
|
0.00002
|
|
NM_000642.3(AGL):c.2944G>A (p.Ala982Thr)
|
rs781463740
|
0.00002
|
|
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg)
|
rs759461084
|
0.00002
|
|
NM_000642.3(AGL):c.3013T>G (p.Cys1005Gly)
|
rs1245795149
|
0.00002
|
|
NM_000642.3(AGL):c.3127G>T (p.Gly1043Cys)
|
rs1422201126
|
0.00002
|
|
NM_000642.3(AGL):c.3155A>G (p.Lys1052Arg)
|
rs769337147
|
0.00002
|
|
NM_000642.3(AGL):c.3278C>A (p.Ser1093Tyr)
|
rs1316336745
|
0.00002
|
|
NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys)
|
rs768133891
|
0.00002
|
|
NM_000642.3(AGL):c.3452G>A (p.Arg1151Gln)
|
rs376059155
|
0.00002
|
|
NM_000642.3(AGL):c.3528G>T (p.Lys1176Asn)
|
rs1171460627
|
0.00002
|
|
NM_000642.3(AGL):c.3548A>G (p.Tyr1183Cys)
|
rs775270593
|
0.00002
|
|
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr)
|
rs779439947
|
0.00002
|
|
NM_000642.3(AGL):c.3653G>A (p.Arg1218Gln)
|
rs772774189
|
0.00002
|
|
NM_000642.3(AGL):c.3751G>A (p.Gly1251Arg)
|
rs745452268
|
0.00002
|
|
NM_000642.3(AGL):c.3836+3A>G
|
rs372921189
|
0.00002
|
|
NM_000642.3(AGL):c.3920C>G (p.Pro1307Arg)
|
rs988176424
|
0.00002
|
|
NM_000642.3(AGL):c.3968C>T (p.Ser1323Leu)
|
rs375493401
|
0.00002
|
|
NM_000642.3(AGL):c.4186A>G (p.Lys1396Glu)
|
rs539403694
|
0.00002
|
|
NM_000642.3(AGL):c.4382C>G (p.Ala1461Gly)
|
rs749209422
|
0.00002
|
|
NM_000642.3(AGL):c.4436T>C (p.Val1479Ala)
|
rs770178156
|
0.00002
|
|
NM_000642.3(AGL):c.4472A>G (p.His1491Arg)
|
rs760188084
|
0.00002
|
|
NM_000642.3(AGL):c.467A>G (p.Asn156Ser)
|
rs369767463
|
0.00002
|
|
NM_000642.3(AGL):c.754A>G (p.Arg252Gly)
|
rs373804474
|
0.00002
|
|
NM_000642.3(AGL):c.83G>A (p.Gly28Glu)
|
rs752771103
|
0.00002
|
|
NM_000642.3(AGL):c.880C>T (p.Pro294Ser)
|
rs886044917
|
0.00002
|
|
NM_000642.3(AGL):c.926C>T (p.Ala309Val)
|
rs762269076
|
0.00002
|
|
NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn)
|
rs140053197
|
0.00002
|
|
NM_000891.3(KCNJ2):c.128G>A (p.Cys43Tyr)
|
rs774424161
|
0.00002
|
|
NM_000891.3(KCNJ2):c.236T>C (p.Ile79Thr)
|
rs786205813
|
0.00002
|
|
NM_000925.4(PDHB):c.106C>T (p.Arg36Cys)
|
rs763842440
|
0.00002
|
|
NM_000925.4(PDHB):c.841G>T (p.Ala281Ser)
|
rs148957406
|
0.00002
|
|
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)
|
rs199983136
|
0.00002
|
|
NM_001008216.2(GALE):c.550C>T (p.Arg184Cys)
|
rs767796512
|
0.00002
|
|
NM_001008216.2(GALE):c.602C>T (p.Pro201Leu)
|
rs199904829
|
0.00002
|
|
NM_001008216.2(GALE):c.728A>C (p.His243Pro)
|
rs143015594
|
0.00002
|
|
NM_001008216.2(GALE):c.809G>A (p.Gly270Asp)
|
rs1226120841
|
0.00002
|
|
NM_001008216.2(GALE):c.812C>T (p.Thr271Met)
|
rs756331486
|
0.00002
|
|
NM_001008216.2(GALE):c.878C>T (p.Pro293Leu)
|
rs775072430
|
0.00002
|
|
NM_001008216.2(GALE):c.979G>C (p.Asp327His)
|
rs150326189
|
0.00002
|
|
NM_001040716.2(PC):c.1150G>A (p.Ala384Thr)
|
rs1464614105
|
0.00002
|
|
NM_001040716.2(PC):c.1354G>A (p.Val452Ile)
|
rs779387492
|
0.00002
|
|
NM_001040716.2(PC):c.2707G>A (p.Asp903Asn)
|
rs758910766
|
0.00002
|
|
NM_001040716.2(PC):c.2890C>T (p.Arg964Cys)
|
rs192822072
|
0.00002
|
|
NM_001040716.2(PC):c.3034A>G (p.Met1012Val)
|
rs1030212351
|
0.00002
|
|
NM_001040716.2(PC):c.3214G>A (p.Gly1072Ser)
|
rs768048602
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser)
|
rs782255299
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn)
|
rs1035199340
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1252C>T (p.Arg418Cys)
|
rs376140990
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.839C>T (p.Ala280Val)
|
rs555640045
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr)
|
rs781834870
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp)
|
rs376730573
|
0.00002
|
|
NM_001243177.4(ALDOA):c.475G>T (p.Val159Leu)
|
rs570385246
|
0.00002
|
|
NM_001243177.4(ALDOA):c.807G>T (p.Lys269Asn)
|
rs1455309434
|
0.00002
|
|
NM_001352514.2(HLCS):c.1810C>T (p.Arg604Cys)
|
rs547391411
|
0.00002
|
|
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr)
|
rs777373322
|
0.00002
|
|
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr)
|
rs376898721
|
0.00002
|
|
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser)
|
rs773752745
|
0.00002
|
|
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys)
|
rs145337682
|
0.00002
|
|
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys)
|
rs778638155
|
0.00002
|
|
NM_001360016.2(G6PD):c.220C>T (p.Arg74Cys)
|
rs781848254
|
0.00002
|
|
NM_001360016.2(G6PD):c.754G>A (p.Glu252Lys)
|
rs782216807
|
0.00002
|
|
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)
|
rs769903360
|
0.00002
|
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
|
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)
|
rs144575084
|
0.00002
|
|
NM_001739.2(CA5A):c.445G>A (p.Ala149Thr)
|
rs553819990
|
0.00002
|
|
NM_001931.5(DLAT):c.1289G>A (p.Arg430Gln)
|
rs782627956
|
0.00002
|
|
NM_001931.5(DLAT):c.160G>T (p.Gly54Trp)
|
rs782529801
|
0.00002
|
|
NM_002076.4(GNS):c.148G>A (p.Val50Met)
|
rs776163695
|
0.00002
|
|
NM_002076.4(GNS):c.1618G>A (p.Gly540Ser)
|
rs771940326
|
0.00002
|
|
NM_002076.4(GNS):c.463G>A (p.Gly155Arg)
|
rs1402191110
|
0.00002
|
|
NM_002076.4(GNS):c.578G>A (p.Arg193Gln)
|
rs368261202
|
0.00002
|
|
NM_002076.4(GNS):c.895G>A (p.Val299Ile)
|
rs1327778268
|
0.00002
|
|
NM_002103.5(GYS1):c.1075G>A (p.Glu359Lys)
|
rs778215783
|
0.00002
|
|
NM_002103.5(GYS1):c.1079A>T (p.Gln360Leu)
|
rs759812102
|
0.00002
|
|
NM_002103.5(GYS1):c.1236C>G (p.Ser412Arg)
|
rs753922665
|
0.00002
|
|
NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala)
|
rs775775270
|
0.00002
|
|
NM_002103.5(GYS1):c.146C>T (p.Thr49Met)
|
rs748894032
|
0.00002
|
|
NM_002103.5(GYS1):c.1492C>T (p.Arg498Cys)
|
rs766146709
|
0.00002
|
|
NM_002103.5(GYS1):c.1559C>T (p.Thr520Met)
|
rs747911098
|
0.00002
|
|
NM_002103.5(GYS1):c.2120A>C (p.Lys707Thr)
|
rs1205499394
|
0.00002
|
|
NM_002103.5(GYS1):c.584G>A (p.Arg195Gln)
|
rs1465178449
|
0.00002
|
|
NM_002103.5(GYS1):c.740C>T (p.Ala247Val)
|
rs1318179540
|
0.00002
|
|
NM_002103.5(GYS1):c.803A>T (p.His268Leu)
|
rs769630976
|
0.00002
|
|
NM_002103.5(GYS1):c.941+4C>T
|
rs374388103
|
0.00002
|
|
NM_002103.5(GYS1):c.945T>A (p.His315Gln)
|
rs2038779389
|
0.00002
|
|
NM_002294.3(LAMP2):c.1078G>A (p.Gly360Arg)
|
rs781134467
|
0.00002
|
|
NM_002294.3(LAMP2):c.1160G>C (p.Gly387Ala)
|
rs2058522449
|
0.00002
|
|
NM_002294.3(LAMP2):c.183T>C (p.Tyr61=)
|
rs397516736
|
0.00002
|
|
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg)
|
rs727504953
|
0.00002
|
|
NM_002294.3(LAMP2):c.284G>T (p.Gly95Val)
|
rs755790073
|
0.00002
|
|
NM_002294.3(LAMP2):c.340G>A (p.Val114Ile)
|
rs377652722
|
0.00002
|
|
NM_002294.3(LAMP2):c.64+6T>C
|
rs1921660826
|
0.00002
|
|
NM_002294.3(LAMP2):c.977G>C (p.Gly326Ala)
|
rs991396612
|
0.00002
|
|
NM_002637.4(PHKA1):c.1429C>T (p.Arg477Cys)
|
rs1556296540
|
0.00002
|
|
NM_002637.4(PHKA1):c.1540C>T (p.Arg514Trp)
|
rs181530232
|
0.00002
|
|
NM_002637.4(PHKA1):c.184C>T (p.Arg62Trp)
|
rs781996165
|
0.00002
|
|
NM_002637.4(PHKA1):c.2916C>T (p.Ser972=)
|
rs782102345
|
0.00002
|
|
NM_002637.4(PHKA1):c.3088A>G (p.Met1030Val)
|
rs782360415
|
0.00002
|
|
NM_002637.4(PHKA1):c.3166C>T (p.Arg1056Cys)
|
rs782514332
|
0.00002
|
|
NM_002637.4(PHKA1):c.3257C>A (p.Ser1086Tyr)
|
rs375128462
|
0.00002
|
|
NM_002637.4(PHKA1):c.3297+5G>A
|
rs781901953
|
0.00002
|
|
NM_002637.4(PHKA1):c.3622G>A (p.Ala1208Thr)
|
rs782814716
|
0.00002
|
|
NM_002863.5(PYGL):c.1597C>T (p.Arg533Trp)
|
rs757446684
|
0.00002
|
|
NM_002863.5(PYGL):c.2110G>A (p.Ala704Thr)
|
rs555408487
|
0.00002
|
|
NM_002863.5(PYGL):c.2204C>T (p.Ala735Val)
|
rs767910015
|
0.00002
|
|
NM_002863.5(PYGL):c.329A>T (p.Asp110Val)
|
rs774026070
|
0.00002
|
|
NM_002863.5(PYGL):c.425-5T>G
|
rs1025550045
|
0.00002
|
|
NM_003384.3(VRK1):c.220C>G (p.Pro74Ala)
|
rs756589419
|
0.00002
|
|
NM_003384.3(VRK1):c.26C>T (p.Ala9Val)
|
rs771269721
|
0.00002
|
|
NM_003384.3(VRK1):c.308G>A (p.Arg103His)
|
rs779386449
|
0.00002
|
|
NM_004130.4(GYG1):c.755T>C (p.Ile252Thr)
|
rs552267180
|
0.00002
|
|
NM_005271.5(GLUD1):c.154C>A (p.His52Asn)
|
rs750420022
|
0.00002
|
|
NM_005327.7(HADH):c.34G>A (p.Val12Met)
|
rs139920805
|
0.00002
|
|
NM_005327.7(HADH):c.479C>T (p.Thr160Ile)
|
rs780252799
|
0.00002
|
|
NM_005327.7(HADH):c.757G>A (p.Gly253Ser)
|
rs749276908
|
0.00002
|
|
NM_005327.7(HADH):c.817A>G (p.Ile273Val)
|
rs1404810726
|
0.00002
|
|
NM_005327.7(HADH):c.863A>C (p.Gln288Pro)
|
rs751120678
|
0.00002
|
|
NM_005609.4(PYGM):c.1315C>T (p.Arg439Cys)
|
rs758774720
|
0.00002
|
|
NM_005609.4(PYGM):c.1354G>A (p.Ala452Thr)
|
rs746021869
|
0.00002
|
|
NM_005609.4(PYGM):c.178G>A (p.Val60Met)
|
rs765962705
|
0.00002
|
|
NM_005609.4(PYGM):c.1918C>T (p.Arg640Cys)
|
rs771016457
|
0.00002
|
|
NM_005609.4(PYGM):c.2032G>A (p.Gly678Ser)
|
rs755716626
|
0.00002
|
|
NM_005609.4(PYGM):c.2054A>G (p.Asn685Ser)
|
rs765656412
|
0.00002
|
|
NM_005609.4(PYGM):c.2335G>A (p.Glu779Lys)
|
rs1014177089
|
0.00002
|
|
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp)
|
rs759260599
|
0.00002
|
|
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)
|
rs200038732
|
0.00002
|
|
NM_005609.4(PYGM):c.818C>T (p.Ala273Val)
|
rs768576604
|
0.00002
|
|
NM_005908.4(MANBA):c.1339C>T (p.Pro447Ser)
|
rs755785845
|
0.00002
|
|
NM_005908.4(MANBA):c.1439A>G (p.Asp480Gly)
|
rs201830848
|
0.00002
|
|
NM_005908.4(MANBA):c.1471G>A (p.Glu491Lys)
|
rs1578882546
|
0.00002
|
|
NM_005908.4(MANBA):c.1709C>T (p.Ser570Leu)
|
rs542071291
|
0.00002
|
|
NM_005908.4(MANBA):c.1846A>G (p.Lys616Glu)
|
rs772091430
|
0.00002
|
|
NM_005908.4(MANBA):c.778A>G (p.Thr260Ala)
|
rs762887276
|
0.00002
|
|
NM_005908.4(MANBA):c.818G>A (p.Arg273Lys)
|
rs774776210
|
0.00002
|
|
NM_006859.4(LIAS):c.101A>G (p.Lys34Arg)
|
rs185737442
|
0.00002
|
|
NM_006859.4(LIAS):c.403G>C (p.Asp135His)
|
rs772011702
|
0.00002
|
|
NM_006859.4(LIAS):c.616A>G (p.Lys206Glu)
|
rs1328126199
|
0.00002
|
|
NM_006859.4(LIAS):c.788A>G (p.Lys263Arg)
|
rs1375530921
|
0.00002
|
|
NM_006859.4(LIAS):c.890G>A (p.Arg297His)
|
rs756021613
|
0.00002
|
|
NM_012434.5(SLC17A5):c.1056A>C (p.Leu352Phe)
|
rs985998169
|
0.00002
|
|
NM_012434.5(SLC17A5):c.1333A>G (p.Lys445Glu)
|
rs751011039
|
0.00002
|
|
NM_012434.5(SLC17A5):c.1481G>C (p.Arg494Thr)
|
rs201009218
|
0.00002
|
|
NM_012434.5(SLC17A5):c.842C>T (p.Pro281Leu)
|
rs138041282
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1051+3A>G
|
rs376499470
|
0.00002
|
|
NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr)
|
rs377603922
|
0.00002
|
|
NM_016203.4(PRKAG2):c.113C>T (p.Pro38Leu)
|
rs984007665
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile)
|
rs778668093
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1648A>C (p.Ile550Leu)
|
rs752198913
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1705G>C (p.Glu569Gln)
|
rs730880983
|
0.00002
|
|
NM_016203.4(PRKAG2):c.181C>T (p.Arg61Ter)
|
rs770100112
|
0.00002
|
|
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu)
|
rs150140412
|
0.00002
|
|
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln)
|
rs145006140
|
0.00002
|
|
NM_016219.5(MAN1B1):c.2056T>C (p.Phe686Leu)
|
rs754917525
|
0.00002
|
|
NM_016219.5(MAN1B1):c.776A>G (p.His259Arg)
|
rs201673635
|
0.00002
|
|
NM_021957.4(GYS2):c.1279A>C (p.Ile427Leu)
|
rs201855039
|
0.00002
|
|
NM_021957.4(GYS2):c.241T>A (p.Cys81Ser)
|
rs146200724
|
0.00002
|
|
NM_024989.4(PGAP1):c.2004T>A (p.Asp668Glu)
|
rs200637575
|
0.00002
|
|
NM_024989.4(PGAP1):c.2174T>A (p.Ile725Asn)
|
rs758283563
|
0.00002
|
|
NM_024989.4(PGAP1):c.2587A>G (p.Met863Val)
|
rs771720370
|
0.00002
|
|
NM_024989.4(PGAP1):c.479G>A (p.Gly160Asp)
|
rs771798393
|
0.00002
|
|
NM_024989.4(PGAP1):c.843C>A (p.Asp281Glu)
|
rs1176534322
|
0.00002
|
|
NM_031229.4(RBCK1):c.1117A>T (p.Thr373Ser)
|
rs531364402
|
0.00002
|
|
NM_031229.4(RBCK1):c.175G>C (p.Val59Leu)
|
rs751582683
|
0.00002
|
|
NM_031229.4(RBCK1):c.448C>T (p.Arg150Trp)
|
rs778995926
|
0.00002
|
|
NM_031229.4(RBCK1):c.547C>G (p.Arg183Gly)
|
rs747821371
|
0.00002
|
|
NM_031229.4(RBCK1):c.674A>G (p.Gln225Arg)
|
rs905456806
|
0.00002
|
|
NM_033159.4(HYAL1):c.449G>A (p.Arg150His)
|
rs782788446
|
0.00002
|
|
NM_033159.4(HYAL1):c.734G>A (p.Ser245Asn)
|
rs376502179
|
0.00002
|
|
NM_053013.4(ENO3):c.554G>T (p.Gly185Val)
|
rs200324278
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1070T>C (p.Phe357Ser)
|
rs749415090
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1128+3G>A
|
rs1401358094
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)
|
rs764206492
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1456G>A (p.Gly486Arg)
|
rs773361163
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1559C>T (p.Ala520Val)
|
rs374619489
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met)
|
rs377050184
|
0.00002
|
|
NM_152419.3(HGSNAT):c.278C>T (p.Ala93Val)
|
rs372055513
|
0.00002
|
|
NM_152419.3(HGSNAT):c.636G>T (p.Glu212Asp)
|
rs774990357
|
0.00002
|
|
NM_152419.3(HGSNAT):c.748G>A (p.Ala250Thr)
|
rs773638310
|
0.00002
|
|
NM_198586.3(NHLRC1):c.1027A>G (p.Ile343Val)
|
rs750935925
|
0.00002
|
|
NM_198586.3(NHLRC1):c.103C>G (p.His35Asp)
|
rs752045674
|
0.00002
|
|
NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly)
|
rs200201752
|
0.00002
|
|
NM_198586.3(NHLRC1):c.1174G>A (p.Val392Ile)
|
rs765576968
|
0.00002
|
|
NM_198586.3(NHLRC1):c.196C>T (p.Leu66Phe)
|
rs553900705
|
0.00002
|
|
NM_198586.3(NHLRC1):c.234C>G (p.Cys78Trp)
|
rs755232826
|
0.00002
|
|
NM_198586.3(NHLRC1):c.308C>T (p.Ala103Val)
|
rs774955028
|
0.00002
|
|
NM_198586.3(NHLRC1):c.481G>A (p.Ala161Thr)
|
rs201476733
|
0.00002
|
|
NM_198586.3(NHLRC1):c.643T>C (p.Phe215Leu)
|
rs753591736
|
0.00002
|
|
NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe)
|
rs747276703
|
0.00002
|
|
NM_000027.4(AGA):c.1030G>C (p.Asp344His)
|
rs776865078
|
0.00001
|
|
NM_000027.4(AGA):c.167C>T (p.Ala56Val)
|
rs758886928
|
0.00001
|
|
NM_000027.4(AGA):c.178G>A (p.Gly60Ser)
|
rs1489211352
|
0.00001
|
|
NM_000027.4(AGA):c.28C>G (p.Leu10Val)
|
rs753394137
|
0.00001
|
|
NM_000027.4(AGA):c.362A>G (p.His121Arg)
|
rs1282622869
|
0.00001
|
|
NM_000027.4(AGA):c.38C>T (p.Pro13Leu)
|
rs759832068
|
0.00001
|
|
NM_000027.4(AGA):c.390G>C (p.Glu130Asp)
|
rs770240412
|
0.00001
|
|
NM_000027.4(AGA):c.515T>C (p.Ile172Thr)
|
rs745924498
|
0.00001
|
|
NM_000027.4(AGA):c.574A>G (p.Ile192Val)
|
rs189159117
|
0.00001
|
|
NM_000027.4(AGA):c.604C>T (p.Arg202Cys)
|
rs764539498
|
0.00001
|
|
NM_000027.4(AGA):c.649C>T (p.His217Tyr)
|
rs763070208
|
0.00001
|
|
NM_000027.4(AGA):c.770C>T (p.Thr257Ile)
|
rs386833434
|
0.00001
|
|
NM_000027.4(AGA):c.776A>G (p.Asn259Ser)
|
rs1306999394
|
0.00001
|
|
NM_000027.4(AGA):c.785T>C (p.Ile262Thr)
|
rs772697272
|
0.00001
|
|
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys)
|
rs1254844989
|
0.00001
|
|
NM_000027.4(AGA):c.940G>A (p.Gly314Ser)
|
rs149870867
|
0.00001
|
|
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)
|
rs41281039
|
0.00001
|
|
NM_000035.4(ALDOB):c.179G>A (p.Arg60Gln)
|
rs141267935
|
0.00001
|
|
NM_000035.4(ALDOB):c.344C>T (p.Pro115Leu)
|
rs763058812
|
0.00001
|
|
NM_000035.4(ALDOB):c.523G>A (p.Ala175Thr)
|
rs755134927
|
0.00001
|
|
NM_000046.5(ARSB):c.1034G>A (p.Arg345Gln)
|
rs148067062
|
0.00001
|
|
NM_000046.5(ARSB):c.1232C>T (p.Ala411Val)
|
rs554258996
|
0.00001
|
|
NM_000046.5(ARSB):c.1397A>G (p.Asp466Gly)
|
rs745885140
|
0.00001
|
|
NM_000046.5(ARSB):c.1435C>T (p.Arg479Trp)
|
rs758641798
|
0.00001
|
|
NM_000046.5(ARSB):c.1468G>A (p.Glu490Lys)
|
rs1226339111
|
0.00001
|
|
NM_000046.5(ARSB):c.539G>A (p.Arg180His)
|
rs139788949
|
0.00001
|
|
NM_000046.5(ARSB):c.572G>A (p.Arg191Gln)
|
rs760875018
|
0.00001
|
|
NM_000046.5(ARSB):c.617A>G (p.Tyr206Cys)
|
rs775204710
|
0.00001
|
|
NM_000046.5(ARSB):c.74C>A (p.Pro25Gln)
|
rs576541936
|
0.00001
|
|
NM_000046.5(ARSB):c.784A>G (p.Asn262Asp)
|
rs1561524845
|
0.00001
|
|
NM_000108.5(DLD):c.1372C>G (p.Pro458Ala)
|
rs779723449
|
0.00001
|
|
NM_000108.5(DLD):c.236C>T (p.Thr79Ile)
|
rs1064795549
|
0.00001
|
|
NM_000147.5(FUCA1):c.1024A>G (p.Thr342Ala)
|
rs769788583
|
0.00001
|
|
NM_000147.5(FUCA1):c.1075G>A (p.Gly359Arg)
|
rs749269943
|
0.00001
|
|
NM_000147.5(FUCA1):c.1126C>T (p.Arg376Trp)
|
rs548735209
|
0.00001
|
|
NM_000147.5(FUCA1):c.1378A>G (p.Ile460Val)
|
rs774128532
|
0.00001
|
|
NM_000147.5(FUCA1):c.137C>G (p.Ser46Cys)
|
rs367641377
|
0.00001
|
|
NM_000147.5(FUCA1):c.193G>A (p.Gly65Ser)
|
rs763135982
|
0.00001
|
|
NM_000147.5(FUCA1):c.350C>T (p.Pro117Leu)
|
rs777581303
|
0.00001
|
|
NM_000147.5(FUCA1):c.388A>G (p.Lys130Glu)
|
rs980153372
|
0.00001
|
|
NM_000147.5(FUCA1):c.445G>T (p.Val149Leu)
|
rs747625633
|
0.00001
|
|
NM_000147.5(FUCA1):c.485G>A (p.Arg162Gln)
|
rs372045495
|
0.00001
|
|
NM_000147.5(FUCA1):c.518G>A (p.Arg173Gln)
|
rs148194937
|
0.00001
|
|
NM_000147.5(FUCA1):c.522G>T (p.Lys174Asn)
|
rs1352828947
|
0.00001
|
|
NM_000147.5(FUCA1):c.525-3A>G
|
rs766757100
|
0.00001
|
|
NM_000147.5(FUCA1):c.533G>A (p.Arg178His)
|
rs145537354
|
0.00001
|
|
NM_000147.5(FUCA1):c.658A>C (p.Asn220His)
|
rs755082816
|
0.00001
|
|
NM_000147.5(FUCA1):c.677T>G (p.Leu226Arg)
|
rs770733586
|
0.00001
|
|
NM_000147.5(FUCA1):c.919C>T (p.Arg307Cys)
|
rs773719849
|
0.00001
|
|
NM_000151.4(G6PC1):c.109G>A (p.Ala37Thr)
|
rs781064575
|
0.00001
|
|
NM_000151.4(G6PC1):c.175A>G (p.Ile59Val)
|
rs774215572
|
0.00001
|
|
NM_000151.4(G6PC1):c.215A>G (p.Asn72Ser)
|
rs753502076
|
0.00001
|
|
NM_000151.4(G6PC1):c.231-3T>C
|
rs1233172989
|
0.00001
|
|
NM_000151.4(G6PC1):c.830C>A (p.Ser277Tyr)
|
rs750048146
|
0.00001
|
|
NM_000151.4(G6PC1):c.895A>G (p.Ile299Val)
|
rs1310542864
|
0.00001
|
|
NM_000151.4(G6PC1):c.961G>A (p.Val321Ile)
|
rs756241523
|
0.00001
|
|
NM_000152.5(GAA):c.-32-3C>T
|
rs1055945806
|
0.00001
|
|
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr)
|
rs1334402365
|
0.00001
|
|
NM_000152.5(GAA):c.1059G>C (p.Gln353His)
|
rs376146090
|
0.00001
|
|
NM_000152.5(GAA):c.1075+4G>A
|
rs754290055
|
0.00001
|
|
NM_000152.5(GAA):c.1076-3C>T
|
rs1220435321
|
0.00001
|
|
NM_000152.5(GAA):c.109C>G (p.Leu37Val)
|
rs369775994
|
0.00001
|
|
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
|
rs963719602
|
0.00001
|
|
NM_000152.5(GAA):c.1171A>G (p.Met391Val)
|
rs778634337
|
0.00001
|
|
NM_000152.5(GAA):c.1184A>T (p.His395Leu)
|
rs775121651
|
0.00001
|
|
NM_000152.5(GAA):c.1195-8G>A
|
rs1194778188
|
0.00001
|
|
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe)
|
rs777431563
|
0.00001
|
|
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp)
|
rs772730706
|
0.00001
|
|
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu)
|
rs765235868
|
0.00001
|
|
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg)
|
rs201463496
|
0.00001
|
|
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp)
|
rs777372252
|
0.00001
|
|
NM_000152.5(GAA):c.1319T>C (p.Met440Thr)
|
rs768847441
|
0.00001
|
|
NM_000152.5(GAA):c.1324G>A (p.Val442Met)
|
rs377559348
|
0.00001
|
|
NM_000152.5(GAA):c.1326+20G>A
|
rs774138443
|
0.00001
|
|
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn)
|
rs2039191738
|
0.00001
|
|
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile)
|
rs768500880
|
0.00001
|
|
NM_000152.5(GAA):c.1438G>A (p.Val480Ile)
|
rs769574574
|
0.00001
|
|
NM_000152.5(GAA):c.1514A>C (p.Glu505Ala)
|
rs1418481698
|
0.00001
|
|
NM_000152.5(GAA):c.151G>A (p.Glu51Lys)
|
rs2039030436
|
0.00001
|
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
|
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser)
|
rs368568190
|
0.00001
|
|
NM_000152.5(GAA):c.1643T>C (p.Val548Ala)
|
rs754686630
|
0.00001
|
|
NM_000152.5(GAA):c.1660G>C (p.Ala554Pro)
|
rs1283351706
|
0.00001
|
|
NM_000152.5(GAA):c.1669A>G (p.Ile557Val)
|
rs747150965
|
0.00001
|
|
NM_000152.5(GAA):c.1755-3C>T
|
rs748327755
|
0.00001
|
|
NM_000152.5(GAA):c.1757C>T (p.Ala586Val)
|
rs770021831
|
0.00001
|
|
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp)
|
rs770983413
|
0.00001
|
|
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln)
|
rs528010457
|
0.00001
|
|
NM_000152.5(GAA):c.1774G>A (p.Gly592Arg)
|
rs1387345310
|
0.00001
|
|
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro)
|
rs2039267331
|
0.00001
|
|
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala)
|
rs1235035841
|
0.00001
|
|
NM_000152.5(GAA):c.1886C>T (p.Pro629Leu)
|
rs746961289
|
0.00001
|
|
NM_000152.5(GAA):c.1889-7C>G
|
rs765713320
|
0.00001
|
|
NM_000152.5(GAA):c.1989G>T (p.Gln663His)
|
rs1189531783
|
0.00001
|
|
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser)
|
rs916566117
|
0.00001
|
|
NM_000152.5(GAA):c.2005C>A (p.Pro669Thr)
|
rs752507985
|
0.00001
|
|
NM_000152.5(GAA):c.2012T>C (p.Met671Thr)
|
rs398123170
|
0.00001
|
|
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser)
|
rs776486462
|
0.00001
|
|
NM_000152.5(GAA):c.206A>G (p.Gln69Arg)
|
rs767191385
|
0.00001
|
|
NM_000152.5(GAA):c.2078A>G (p.Gln693Arg)
|
rs779338215
|
0.00001
|
|
NM_000152.5(GAA):c.2137T>C (p.Phe713Leu)
|
rs755618776
|
0.00001
|
|
NM_000152.5(GAA):c.214C>A (p.Pro72Thr)
|
rs923068950
|
0.00001
|
|
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe)
|
rs1290010789
|
0.00001
|
|
NM_000152.5(GAA):c.217G>A (p.Gly73Ser)
|
rs760644219
|
0.00001
|
|
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu)
|
rs1232306443
|
0.00001
|
|
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg)
|
rs763612880
|
0.00001
|
|
NM_000152.5(GAA):c.2218G>T (p.Val740Leu)
|
rs752122499
|
0.00001
|
|
NM_000152.5(GAA):c.221G>A (p.Arg74His)
|
rs764797280
|
0.00001
|
|
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn)
|
rs755272974
|
0.00001
|
|
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys)
|
rs760063214
|
0.00001
|
|
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys)
|
rs201980859
|
0.00001
|
|
NM_000152.5(GAA):c.2459C>T (p.Ala820Val)
|
rs786204304
|
0.00001
|
|
NM_000152.5(GAA):c.247G>A (p.Asp83Asn)
|
rs771101156
|
0.00001
|
|
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys)
|
rs752421149
|
0.00001
|
|
NM_000152.5(GAA):c.2521A>G (p.Met841Val)
|
rs1184116513
|
0.00001
|
|
NM_000152.5(GAA):c.2536G>A (p.Ala846Thr)
|
rs1464282302
|
0.00001
|
|
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp)
|
rs1445358978
|
0.00001
|
|
NM_000152.5(GAA):c.260A>G (p.Asn87Ser)
|
rs117530672
|
0.00001
|
|
NM_000152.5(GAA):c.2651C>T (p.Thr884Met)
|
rs759144318
|
0.00001
|
|
NM_000152.5(GAA):c.2735C>T (p.Ala912Val)
|
rs778874712
|
0.00001
|
|
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
|
rs1343332597
|
0.00001
|
|
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln)
|
rs1034101189
|
0.00001
|
|
NM_000152.5(GAA):c.2845G>A (p.Val949Ile)
|
rs183458422
|
0.00001
|
|
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
|
rs1245412108
|
0.00001
|
|
NM_000152.5(GAA):c.286A>G (p.Lys96Glu)
|
rs778816809
|
0.00001
|
|
NM_000152.5(GAA):c.298C>A (p.Gln100Lys)
|
rs780027584
|
0.00001
|
|
NM_000152.5(GAA):c.314C>T (p.Ala105Val)
|
rs761409404
|
0.00001
|
|
NM_000152.5(GAA):c.328T>C (p.Tyr110His)
|
rs761311330
|
0.00001
|
|
NM_000152.5(GAA):c.347G>T (p.Gly116Val)
|
rs754285414
|
0.00001
|
|
NM_000152.5(GAA):c.364A>G (p.Met122Val)
|
rs2039040448
|
0.00001
|
|
NM_000152.5(GAA):c.395G>C (p.Ser132Thr)
|
rs772908626
|
0.00001
|
|
NM_000152.5(GAA):c.425G>A (p.Ser142Asn)
|
rs754195673
|
0.00001
|
|
NM_000152.5(GAA):c.435A>T (p.Glu145Asp)
|
rs765586839
|
0.00001
|
|
NM_000152.5(GAA):c.461G>A (p.Arg154His)
|
rs781124934
|
0.00001
|
|
NM_000152.5(GAA):c.472A>G (p.Thr158Ala)
|
rs1598570556
|
0.00001
|
|
NM_000152.5(GAA):c.488A>T (p.Asp163Val)
|
rs755903462
|
0.00001
|
|
NM_000152.5(GAA):c.49G>A (p.Ala17Thr)
|
rs751425831
|
0.00001
|
|
NM_000152.5(GAA):c.503G>T (p.Arg168Leu)
|
rs376685205
|
0.00001
|
|
NM_000152.5(GAA):c.511G>A (p.Val171Met)
|
rs886053543
|
0.00001
|
|
NM_000152.5(GAA):c.514A>G (p.Met172Val)
|
rs1307823755
|
0.00001
|
|
NM_000152.5(GAA):c.530A>C (p.Asn177Thr)
|
rs936395356
|
0.00001
|
|
NM_000152.5(GAA):c.532C>T (p.Arg178Cys)
|
rs762439362
|
0.00001
|
|
NM_000152.5(GAA):c.539A>G (p.His180Arg)
|
rs773474041
|
0.00001
|
|
NM_000152.5(GAA):c.549C>G (p.Ile183Met)
|
rs778132082
|
0.00001
|
|
NM_000152.5(GAA):c.560C>G (p.Ala187Gly)
|
rs749876645
|
0.00001
|
|
NM_000152.5(GAA):c.574G>A (p.Glu192Lys)
|
rs1407372901
|
0.00001
|
|
NM_000152.5(GAA):c.576G>C (p.Glu192Asp)
|
rs760655446
|
0.00001
|
|
NM_000152.5(GAA):c.607C>T (p.Arg203Trp)
|
rs751286274
|
0.00001
|
|
NM_000152.5(GAA):c.608G>A (p.Arg203Gln)
|
rs754446365
|
0.00001
|
|
NM_000152.5(GAA):c.625T>C (p.Tyr209His)
|
rs930808379
|
0.00001
|
|
NM_000152.5(GAA):c.631G>A (p.Val211Met)
|
rs760995790
|
0.00001
|
|
NM_000152.5(GAA):c.634G>A (p.Glu212Lys)
|
rs768596085
|
0.00001
|
|
NM_000152.5(GAA):c.683G>A (p.Gly228Asp)
|
rs1470881018
|
0.00001
|
|
NM_000152.5(GAA):c.704C>T (p.Thr235Met)
|
rs752950890
|
0.00001
|
|
NM_000152.5(GAA):c.706G>T (p.Val236Leu)
|
rs777964427
|
0.00001
|
|
NM_000152.5(GAA):c.70G>A (p.Ala24Thr)
|
rs139716763
|
0.00001
|
|
NM_000152.5(GAA):c.723T>G (p.Phe241Leu)
|
rs1160112655
|
0.00001
|
|
NM_000152.5(GAA):c.745T>C (p.Ser249Pro)
|
rs1386718298
|
0.00001
|
|
NM_000152.5(GAA):c.74C>T (p.Ala25Val)
|
rs768867363
|
0.00001
|
|
NM_000152.5(GAA):c.758C>G (p.Pro253Arg)
|
rs1169157671
|
0.00001
|
|
NM_000152.5(GAA):c.764A>G (p.Gln255Arg)
|
rs1405975877
|
0.00001
|
|
NM_000152.5(GAA):c.795T>A (p.Ser265Arg)
|
rs779785396
|
0.00001
|
|
NM_000152.5(GAA):c.804G>A (p.Met268Ile)
|
rs1185610552
|
0.00001
|
|
NM_000152.5(GAA):c.863G>A (p.Gly288Asp)
|
rs769074720
|
0.00001
|
|
NM_000152.5(GAA):c.910G>A (p.Gly304Ser)
|
rs140301384
|
0.00001
|
|
NM_000152.5(GAA):c.955+5G>C
|
rs759508507
|
0.00001
|
|
NM_000152.5(GAA):c.969G>T (p.Gln323His)
|
rs1266693289
|
0.00001
|
|
NM_000152.5(GAA):c.995C>T (p.Ser332Leu)
|
rs757608620
|
0.00001
|
|
NM_000154.2(GALK1):c.104C>T (p.Pro35Leu)
|
rs766223704
|
0.00001
|
|
NM_000154.2(GALK1):c.1057G>A (p.Val353Met)
|
rs749948423
|
0.00001
|
|
NM_000154.2(GALK1):c.106G>C (p.Gly36Arg)
|
rs1214866139
|
0.00001
|
|
NM_000154.2(GALK1):c.1097G>A (p.Arg366Gln)
|
rs538714933
|
0.00001
|
|
NM_000154.2(GALK1):c.1175T>C (p.Leu392Ser)
|
rs371755069
|
0.00001
|
|
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys)
|
rs1365349586
|
0.00001
|
|
NM_000154.2(GALK1):c.260G>A (p.Arg87Gln)
|
rs572575400
|
0.00001
|
|
NM_000154.2(GALK1):c.587G>A (p.Gly196Asp)
|
rs771717336
|
0.00001
|
|
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)
|
rs111033806
|
0.00001
|
|
NM_000155.4(GALT):c.1034C>A (p.Ala345Asp)
|
rs111033815
|
0.00001
|
|
NM_000155.4(GALT):c.377+2dup
|
rs763662108
|
0.00001
|
|
NM_000155.4(GALT):c.469G>A (p.Val157Ile)
|
rs1173928130
|
0.00001
|
|
NM_000155.4(GALT):c.628A>G (p.Lys210Glu)
|
rs896091797
|
0.00001
|
|
NM_000155.4(GALT):c.773G>A (p.Arg258His)
|
rs773766027
|
0.00001
|
|
NM_000155.4(GALT):c.787C>T (p.Arg263Trp)
|
rs1448701207
|
0.00001
|
|
NM_000155.4(GALT):c.820+4A>C
|
rs398123186
|
0.00001
|
|
NM_000158.4(GBE1):c.1205C>T (p.Thr402Met)
|
rs751619568
|
0.00001
|
|
NM_000158.4(GBE1):c.1618+4A>G
|
rs763962659
|
0.00001
|
|
NM_000158.4(GBE1):c.1647A>C (p.Leu549Phe)
|
rs544404712
|
0.00001
|
|
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)
|
rs552094593
|
0.00001
|
|
NM_000158.4(GBE1):c.169A>G (p.Lys57Glu)
|
rs772910188
|
0.00001
|
|
NM_000158.4(GBE1):c.1810G>A (p.Val604Met)
|
rs760015364
|
0.00001
|
|
NM_000158.4(GBE1):c.200A>G (p.Asp67Gly)
|
rs368256869
|
0.00001
|
|
NM_000158.4(GBE1):c.2080A>G (p.Ile694Val)
|
rs1257283055
|
0.00001
|
|
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)
|
rs1209123501
|
0.00001
|
|
NM_000158.4(GBE1):c.2093T>C (p.Val698Ala)
|
rs1195429833
|
0.00001
|
|
NM_000158.4(GBE1):c.2107T>G (p.Ter703Gly)
|
rs1400238963
|
0.00001
|
|
NM_000158.4(GBE1):c.213A>C (p.Arg71Ser)
|
rs755590449
|
0.00001
|
|
NM_000158.4(GBE1):c.287A>G (p.Glu96Gly)
|
rs1705760375
|
0.00001
|
|
NM_000158.4(GBE1):c.466C>T (p.Arg156Cys)
|
rs763302311
|
0.00001
|
|
NM_000158.4(GBE1):c.488A>G (p.Tyr163Cys)
|
rs771447249
|
0.00001
|
|
NM_000158.4(GBE1):c.548C>T (p.Ser183Leu)
|
rs1327623597
|
0.00001
|
|
NM_000158.4(GBE1):c.721A>G (p.Met241Val)
|
rs747155575
|
0.00001
|
|
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)
|
rs137852893
|
0.00001
|
|
NM_000158.4(GBE1):c.88A>G (p.Arg30Gly)
|
rs1236771685
|
0.00001
|
|
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val)
|
rs121918175
|
0.00001
|
|
NM_000181.4(GUSB):c.1065+4T>C
|
rs778151820
|
0.00001
|
|
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu)
|
rs771629102
|
0.00001
|
|
NM_000181.4(GUSB):c.1222C>T (p.Pro408Ser)
|
rs779091113
|
0.00001
|
|
NM_000181.4(GUSB):c.1325C>T (p.Ala442Val)
|
rs763845326
|
0.00001
|
|
NM_000181.4(GUSB):c.170G>T (p.Arg57Leu)
|
rs769252159
|
0.00001
|
|
NM_000181.4(GUSB):c.1741G>A (p.Val581Met)
|
rs150304382
|
0.00001
|
|
NM_000181.4(GUSB):c.1816A>G (p.Lys606Glu)
|
rs1325465494
|
0.00001
|
|
NM_000181.4(GUSB):c.1887T>G (p.Ile629Met)
|
rs756035101
|
0.00001
|
|
NM_000181.4(GUSB):c.196C>T (p.Arg66Trp)
|
rs776085845
|
0.00001
|
|
NM_000181.4(GUSB):c.200C>T (p.Pro67Leu)
|
rs948834547
|
0.00001
|
|
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)
|
rs786205673
|
0.00001
|
|
NM_000181.4(GUSB):c.394G>A (p.Val132Met)
|
rs769151272
|
0.00001
|
|
NM_000181.4(GUSB):c.493C>T (p.Arg165Trp)
|
rs771137253
|
0.00001
|
|
NM_000181.4(GUSB):c.613T>C (p.Tyr205His)
|
rs367989163
|
0.00001
|
|
NM_000181.4(GUSB):c.658C>G (p.Leu220Val)
|
rs760324067
|
0.00001
|
|
NM_000181.4(GUSB):c.760A>C (p.Asn254His)
|
rs150086524
|
0.00001
|
|
NM_000181.4(GUSB):c.7C>T (p.Arg3Trp)
|
rs750955623
|
0.00001
|
|
NM_000181.4(GUSB):c.955T>C (p.Phe319Leu)
|
rs757549474
|
0.00001
|
|
NM_000181.4(GUSB):c.959A>C (p.Tyr320Ser)
|
rs886044680
|
0.00001
|
|
NM_000199.5(SGSH):c.1037G>A (p.Arg346Gln)
|
rs367883023
|
0.00001
|
|
NM_000199.5(SGSH):c.1052C>T (p.Ala351Val)
|
rs139075692
|
0.00001
|
|
NM_000199.5(SGSH):c.1108G>A (p.Val370Ile)
|
rs201061563
|
0.00001
|
|
NM_000199.5(SGSH):c.1145G>A (p.Arg382Gln)
|
rs779661554
|
0.00001
|
|
NM_000199.5(SGSH):c.1147C>A (p.His383Asn)
|
rs922205597
|
0.00001
|
|
NM_000199.5(SGSH):c.1154G>A (p.Arg385His)
|
rs944844493
|
0.00001
|
|
NM_000199.5(SGSH):c.115G>A (p.Ala39Thr)
|
rs773137508
|
0.00001
|
|
NM_000199.5(SGSH):c.1190C>T (p.Pro397Leu)
|
rs772080776
|
0.00001
|
|
NM_000199.5(SGSH):c.1229A>G (p.Asp410Gly)
|
rs748612821
|
0.00001
|
|
NM_000199.5(SGSH):c.122A>G (p.Asn41Ser)
|
rs2041923714
|
0.00001
|
|
NM_000199.5(SGSH):c.1240C>T (p.Arg414Cys)
|
rs1354462020
|
0.00001
|
|
NM_000199.5(SGSH):c.1244C>G (p.Thr415Ser)
|
rs778602791
|
0.00001
|
|
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met)
|
rs767649680
|
0.00001
|
|
NM_000199.5(SGSH):c.1270T>C (p.Tyr424His)
|
rs766657191
|
0.00001
|
|
NM_000199.5(SGSH):c.1304G>A (p.Arg435His)
|
rs370528435
|
0.00001
|
|
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)
|
rs1057521146
|
0.00001
|
|
NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp)
|
rs754273400
|
0.00001
|
|
NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys)
|
rs1453217230
|
0.00001
|
|
NM_000199.5(SGSH):c.1444G>A (p.Ala482Thr)
|
rs780969693
|
0.00001
|
|
NM_000199.5(SGSH):c.1445C>T (p.Ala482Val)
|
rs376296818
|
0.00001
|
|
NM_000199.5(SGSH):c.1453G>A (p.Gly485Ser)
|
rs779083605
|
0.00001
|
|
NM_000199.5(SGSH):c.223G>A (p.Ala75Thr)
|
rs137953179
|
0.00001
|
|
NM_000199.5(SGSH):c.309G>A (p.Lys103=)
|
rs751641089
|
0.00001
|
|
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)
|
rs775112689
|
0.00001
|
|
NM_000199.5(SGSH):c.440A>G (p.Gln147Arg)
|
rs1408975480
|
0.00001
|
|
NM_000199.5(SGSH):c.468G>T (p.Lys156Asn)
|
rs780700374
|
0.00001
|
|
NM_000199.5(SGSH):c.503A>C (p.Asp168Ala)
|
rs774333201
|
0.00001
|
|
NM_000199.5(SGSH):c.506+4T>A
|
rs1378763987
|
0.00001
|
|
NM_000199.5(SGSH):c.523G>A (p.Val175Ile)
|
rs753921560
|
0.00001
|
|
NM_000199.5(SGSH):c.688C>T (p.Pro230Ser)
|
rs756437160
|
0.00001
|
|
NM_000199.5(SGSH):c.773G>A (p.Arg258His)
|
rs549606472
|
0.00001
|
|
NM_000199.5(SGSH):c.886G>T (p.Val296Leu)
|
rs1189287474
|
0.00001
|
|
NM_000199.5(SGSH):c.896C>T (p.Pro299Leu)
|
rs776306411
|
0.00001
|
|
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)
|
rs745884647
|
0.00001
|
|
NM_000199.5(SGSH):c.937G>T (p.Val313Leu)
|
rs769385447
|
0.00001
|
|
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)
|
rs398123246
|
0.00001
|
|
NM_000199.5(SGSH):c.98G>A (p.Gly33Glu)
|
rs762732038
|
0.00001
|
|
NM_000199.5(SGSH):c.997T>C (p.Tyr333His)
|
rs924984538
|
0.00001
|
|
NM_000202.8(IDS):c.1046G>A (p.Ser349Asn)
|
rs138918423
|
0.00001
|
|
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys)
|
rs782634993
|
0.00001
|
|
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr)
|
rs782475200
|
0.00001
|
|
NM_000202.8(IDS):c.1483A>G (p.Ile495Val)
|
rs782228221
|
0.00001
|
|
NM_000202.8(IDS):c.289C>A (p.Pro97Thr)
|
rs1557340273
|
0.00001
|
|
NM_000202.8(IDS):c.352A>T (p.Thr118Ser)
|
rs2089496220
|
0.00001
|
|
NM_000202.8(IDS):c.785T>A (p.Val262Glu)
|
rs782053689
|
0.00001
|
|
NM_000203.5(IDUA):c.1051G>A (p.Ala351Thr)
|
rs772855552
|
0.00001
|
|
NM_000203.5(IDUA):c.1070C>T (p.Pro357Leu)
|
rs918621189
|
0.00001
|
|
NM_000203.5(IDUA):c.1112T>A (p.Val371Asp)
|
rs1475290359
|
0.00001
|
|
NM_000203.5(IDUA):c.1127C>T (p.Pro376Leu)
|
rs1038727823
|
0.00001
|
|
NM_000203.5(IDUA):c.1169T>C (p.Met390Thr)
|
rs1157083700
|
0.00001
|
|
NM_000203.5(IDUA):c.1208C>T (p.Ala403Val)
|
rs1253435204
|
0.00001
|
|
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro)
|
rs1392555572
|
0.00001
|
|
NM_000203.5(IDUA):c.1289C>T (p.Pro430Leu)
|
rs1197582697
|
0.00001
|
|
NM_000203.5(IDUA):c.1490C>A (p.Thr497Lys)
|
rs1436395282
|
0.00001
|
|
NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg)
|
rs1715216061
|
0.00001
|
|
NM_000203.5(IDUA):c.159C>T (p.Cys53=)
|
rs758190824
|
0.00001
|
|
NM_000203.5(IDUA):c.1646G>T (p.Gly549Val)
|
rs1171379194
|
0.00001
|
|
NM_000203.5(IDUA):c.1651G>C (p.Val551Leu)
|
rs778877259
|
0.00001
|
|
NM_000203.5(IDUA):c.1716C>G (p.His572Gln)
|
rs1253075699
|
0.00001
|
|
NM_000203.5(IDUA):c.1717G>T (p.Val573Leu)
|
rs146588560
|
0.00001
|
|
NM_000203.5(IDUA):c.1744G>A (p.Glu582Lys)
|
rs762037549
|
0.00001
|
|
NM_000203.5(IDUA):c.1771G>A (p.Ala591Thr)
|
rs398123257
|
0.00001
|
|
NM_000203.5(IDUA):c.1802C>T (p.Thr601Ile)
|
rs200089576
|
0.00001
|
|
NM_000203.5(IDUA):c.193G>A (p.Val65Ile)
|
rs762406262
|
0.00001
|
|
NM_000203.5(IDUA):c.1949C>T (p.Pro650Leu)
|
rs751132616
|
0.00001
|
|
NM_000203.5(IDUA):c.1957C>T (p.Pro653Ser)
|
rs970991915
|
0.00001
|
|
NM_000203.5(IDUA):c.233G>A (p.Gly78Asp)
|
rs751792135
|
0.00001
|
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
|
NM_000203.5(IDUA):c.300G>T (p.Arg100Ser)
|
rs1340970137
|
0.00001
|
|
NM_000203.5(IDUA):c.31C>G (p.Leu11Val)
|
rs1423609884
|
0.00001
|
|
NM_000203.5(IDUA):c.497G>C (p.Arg166Thr)
|
rs762623046
|
0.00001
|
|
NM_000203.5(IDUA):c.557A>G (p.His186Arg)
|
rs758439259
|
0.00001
|
|
NM_000203.5(IDUA):c.600C>G (p.Asn200Lys)
|
rs763375487
|
0.00001
|
|
NM_000203.5(IDUA):c.617C>T (p.Ser206Leu)
|
rs756131787
|
0.00001
|
|
NM_000203.5(IDUA):c.649C>T (p.Arg217Trp)
|
rs1178237301
|
0.00001
|
|
NM_000203.5(IDUA):c.65C>T (p.Pro22Leu)
|
rs745879759
|
0.00001
|
|
NM_000203.5(IDUA):c.692C>T (p.Ser231Phe)
|
rs933301757
|
0.00001
|
|
NM_000203.5(IDUA):c.73C>T (p.Pro25Ser)
|
rs775731864
|
0.00001
|
|
NM_000203.5(IDUA):c.770A>G (p.Asp257Gly)
|
rs1001962975
|
0.00001
|
|
NM_000203.5(IDUA):c.784C>T (p.His262Tyr)
|
rs375305122
|
0.00001
|
|
NM_000203.5(IDUA):c.814A>C (p.Ile272Leu)
|
rs536381533
|
0.00001
|
|
NM_000203.5(IDUA):c.90C>G (p.His30Gln)
|
rs553425887
|
0.00001
|
|
NM_000262.3(NAGA):c.1085G>A (p.Gly362Glu)
|
rs199980021
|
0.00001
|
|
NM_000262.3(NAGA):c.1142G>A (p.Arg381Gln)
|
rs144771084
|
0.00001
|
|
NM_000262.3(NAGA):c.542G>A (p.Arg181His)
|
rs777425990
|
0.00001
|
|
NM_000262.3(NAGA):c.646G>A (p.Asp216Asn)
|
rs754849987
|
0.00001
|
|
NM_000262.3(NAGA):c.802G>A (p.Ala268Thr)
|
rs1569457519
|
0.00001
|
|
NM_000263.4(NAGLU):c.1028C>T (p.Thr343Ile)
|
rs1469114327
|
0.00001
|
|
NM_000263.4(NAGLU):c.109G>T (p.Ala37Ser)
|
rs2092906065
|
0.00001
|
|
NM_000263.4(NAGLU):c.1129C>T (p.Arg377Cys)
|
rs762372103
|
0.00001
|
|
NM_000263.4(NAGLU):c.1130G>A (p.Arg377His)
|
rs199850748
|
0.00001
|
|
NM_000263.4(NAGLU):c.1178G>A (p.Arg393His)
|
rs753409259
|
0.00001
|
|
NM_000263.4(NAGLU):c.1267G>A (p.Val423Met)
|
rs1237047553
|
0.00001
|
|
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val)
|
rs767179184
|
0.00001
|
|
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln)
|
rs868244206
|
0.00001
|
|
NM_000263.4(NAGLU):c.1463C>T (p.Pro488Leu)
|
rs748902330
|
0.00001
|
|
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)
|
rs569519789
|
0.00001
|
|
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met)
|
rs1300652650
|
0.00001
|
|
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe)
|
rs764446533
|
0.00001
|
|
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp)
|
rs780527821
|
0.00001
|
|
NM_000263.4(NAGLU):c.1643C>T (p.Pro548Leu)
|
rs1362489439
|
0.00001
|
|
NM_000263.4(NAGLU):c.1660C>T (p.Pro554Ser)
|
rs1049965915
|
0.00001
|
|
NM_000263.4(NAGLU):c.1661C>T (p.Pro554Leu)
|
rs1166458645
|
0.00001
|
|
NM_000263.4(NAGLU):c.176A>G (p.Lys59Arg)
|
rs1217324478
|
0.00001
|
|
NM_000263.4(NAGLU):c.1783G>A (p.Gly595Arg)
|
rs773277748
|
0.00001
|
|
NM_000263.4(NAGLU):c.1822G>A (p.Glu608Lys)
|
rs756138287
|
0.00001
|
|
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys)
|
rs199729746
|
0.00001
|
|
NM_000263.4(NAGLU):c.1858A>G (p.Ser620Gly)
|
rs777994015
|
0.00001
|
|
NM_000263.4(NAGLU):c.188A>G (p.Asp63Gly)
|
rs1264514990
|
0.00001
|
|
NM_000263.4(NAGLU):c.1892G>A (p.Ser631Asn)
|
rs1227171021
|
0.00001
|
|
NM_000263.4(NAGLU):c.1948G>A (p.Gly650Arg)
|
rs1197265081
|
0.00001
|
|
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val)
|
rs746006696
|
0.00001
|
|
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp)
|
rs774918711
|
0.00001
|
|
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val)
|
rs540744217
|
0.00001
|
|
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr)
|
rs146582131
|
0.00001
|
|
NM_000263.4(NAGLU):c.2109A>C (p.Gln703His)
|
rs754927686
|
0.00001
|
|
NM_000263.4(NAGLU):c.212G>C (p.Gly71Ala)
|
rs1329966515
|
0.00001
|
|
NM_000263.4(NAGLU):c.2164G>A (p.Asp722Asn)
|
rs367726645
|
0.00001
|
|
NM_000263.4(NAGLU):c.2221G>A (p.Gly741Ser)
|
rs553153753
|
0.00001
|
|
NM_000263.4(NAGLU):c.2222G>A (p.Gly741Asp)
|
rs1455286651
|
0.00001
|
|
NM_000263.4(NAGLU):c.262G>C (p.Gly88Arg)
|
rs1227387097
|
0.00001
|
|
NM_000263.4(NAGLU):c.277C>G (p.Leu93Val)
|
rs1285791183
|
0.00001
|
|
NM_000263.4(NAGLU):c.383+5C>G
|
rs762932040
|
0.00001
|
|
NM_000263.4(NAGLU):c.384-10C>G
|
rs772996063
|
0.00001
|
|
NM_000263.4(NAGLU):c.508G>A (p.Gly170Ser)
|
rs762238741
|
0.00001
|
|
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln)
|
rs1323850779
|
0.00001
|
|
NM_000263.4(NAGLU):c.576C>A (p.Phe192Leu)
|
rs765009822
|
0.00001
|
|
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)
|
rs1344891508
|
0.00001
|
|
NM_000263.4(NAGLU):c.604G>A (p.Gly202Arg)
|
rs762576999
|
0.00001
|
|
NM_000263.4(NAGLU):c.709G>A (p.Gly237Ser)
|
rs1347490896
|
0.00001
|
|
NM_000263.4(NAGLU):c.737C>T (p.Ala246Val)
|
rs1405289098
|
0.00001
|
|
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile)
|
rs764452721
|
0.00001
|
|
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe)
|
rs769713129
|
0.00001
|
|
NM_000263.4(NAGLU):c.890G>A (p.Arg297Gln)
|
rs200625281
|
0.00001
|
|
NM_000284.4(PDHA1):c.1000G>A (p.Glu334Lys)
|
rs1269552788
|
0.00001
|
|
NM_000284.4(PDHA1):c.1066G>A (p.Asp356Asn)
|
rs770669838
|
0.00001
|
|
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile)
|
rs755945768
|
0.00001
|
|
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly)
|
rs531875148
|
0.00001
|
|
NM_000289.6(PFKM):c.1412+6T>C
|
rs1417385697
|
0.00001
|
|
NM_000289.6(PFKM):c.1540C>A (p.Gln514Lys)
|
rs1487607332
|
0.00001
|
|
NM_000289.6(PFKM):c.2096G>A (p.Arg699Gln)
|
rs770276917
|
0.00001
|
|
NM_000289.6(PFKM):c.2338G>A (p.Val780Ile)
|
rs537327893
|
0.00001
|
|
NM_000289.6(PFKM):c.289G>A (p.Gly97Arg)
|
rs768553877
|
0.00001
|
|
NM_000289.6(PFKM):c.320A>G (p.Lys107Arg)
|
rs763214745
|
0.00001
|
|
NM_000289.6(PFKM):c.634T>C (p.Cys212Arg)
|
rs755956424
|
0.00001
|
|
NM_000289.6(PFKM):c.800T>C (p.Ile267Thr)
|
rs748720104
|
0.00001
|
|
NM_000289.6(PFKM):c.935T>C (p.Leu312Pro)
|
rs1251670627
|
0.00001
|
|
NM_000290.4(PGAM2):c.143C>T (p.Ala48Val)
|
rs1308236739
|
0.00001
|
|
NM_000290.4(PGAM2):c.19G>A (p.Val7Met)
|
rs774293728
|
0.00001
|
|
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp)
|
rs104894034
|
0.00001
|
|
NM_000290.4(PGAM2):c.374C>T (p.Pro125Leu)
|
rs1385458139
|
0.00001
|
|
NM_000290.4(PGAM2):c.545T>C (p.Leu182Pro)
|
rs749757183
|
0.00001
|
|
NM_000290.4(PGAM2):c.611C>T (p.Ala204Val)
|
rs747760221
|
0.00001
|
|
NM_000292.3(PHKA2):c.1099C>T (p.Arg367Cys)
|
rs1287580250
|
0.00001
|
|
NM_000292.3(PHKA2):c.2161A>G (p.Lys721Glu)
|
rs368123691
|
0.00001
|
|
NM_000292.3(PHKA2):c.2407G>A (p.Val803Ile)
|
rs766866500
|
0.00001
|
|
NM_000292.3(PHKA2):c.2443G>A (p.Gly815Ser)
|
rs747280022
|
0.00001
|
|
NM_000292.3(PHKA2):c.2462G>T (p.Gly821Val)
|
rs373884791
|
0.00001
|
|
NM_000292.3(PHKA2):c.2686G>T (p.Val896Phe)
|
rs2047817433
|
0.00001
|
|
NM_000292.3(PHKA2):c.2789G>A (p.Arg930Gln)
|
rs201611776
|
0.00001
|
|
NM_000292.3(PHKA2):c.3127T>C (p.Ser1043Pro)
|
rs757379156
|
0.00001
|
|
NM_000292.3(PHKA2):c.535G>A (p.Ala179Thr)
|
rs749441642
|
0.00001
|
|
NM_000292.3(PHKA2):c.721A>G (p.Ile241Val)
|
rs367696431
|
0.00001
|
|
NM_000293.3(PHKB):c.1274G>A (p.Gly425Asp)
|
rs774768331
|
0.00001
|
|
NM_000293.3(PHKB):c.14C>T (p.Ala5Val)
|
rs778015344
|
0.00001
|
|
NM_000293.3(PHKB):c.1862T>C (p.Ile621Thr)
|
rs1042750036
|
0.00001
|
|
NM_000293.3(PHKB):c.2347C>T (p.Arg783Cys)
|
rs143421326
|
0.00001
|
|
NM_000293.3(PHKB):c.2359G>C (p.Ala787Pro)
|
rs1485645875
|
0.00001
|
|
NM_000293.3(PHKB):c.245C>G (p.Ala82Gly)
|
rs754835322
|
0.00001
|
|
NM_000293.3(PHKB):c.2668C>T (p.Arg890Cys)
|
rs555108367
|
0.00001
|
|
NM_000293.3(PHKB):c.2710C>T (p.Pro904Ser)
|
rs1400548271
|
0.00001
|
|
NM_000293.3(PHKB):c.2818G>A (p.Gly940Arg)
|
rs929325638
|
0.00001
|
|
NM_000293.3(PHKB):c.2819G>C (p.Gly940Ala)
|
rs781357865
|
0.00001
|
|
NM_000293.3(PHKB):c.3030G>A (p.Leu1010=)
|
rs1402815994
|
0.00001
|
|
NM_000293.3(PHKB):c.31G>A (p.Val11Met)
|
rs1217081596
|
0.00001
|
|
NM_000293.3(PHKB):c.3214G>A (p.Ala1072Thr)
|
rs769735460
|
0.00001
|
|
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro)
|
rs121918022
|
0.00001
|
|
NM_000293.3(PHKB):c.365T>C (p.Met122Thr)
|
rs1970349740
|
0.00001
|
|
NM_000293.3(PHKB):c.370G>C (p.Gly124Arg)
|
rs749597903
|
0.00001
|
|
NM_000293.3(PHKB):c.727A>C (p.Lys243Gln)
|
rs190737988
|
0.00001
|
|
NM_000293.3(PHKB):c.820C>T (p.Arg274Cys)
|
rs781197907
|
0.00001
|
|
NM_000294.3(PHKG2):c.1147C>T (p.Pro383Ser)
|
rs920855301
|
0.00001
|
|
NM_000294.3(PHKG2):c.214G>A (p.Glu72Lys)
|
rs753644625
|
0.00001
|
|
NM_000294.3(PHKG2):c.244C>T (p.Arg82Cys)
|
rs779594016
|
0.00001
|
|
NM_000294.3(PHKG2):c.431T>C (p.Leu144Pro)
|
rs1567261889
|
0.00001
|
|
NM_000294.3(PHKG2):c.907A>G (p.Thr303Ala)
|
rs780358808
|
0.00001
|
|
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter)
|
rs560414449
|
0.00001
|
|
NM_000308.4(CTSA):c.-43T>A
|
rs779305626
|
0.00001
|
|
NM_000308.4(CTSA):c.1039C>T (p.Arg347Trp)
|
rs1437597214
|
0.00001
|
|
NM_000308.4(CTSA):c.110G>C (p.Arg37Pro)
|
rs751427255
|
0.00001
|
|
NM_000308.4(CTSA):c.1111C>T (p.Arg371Cys)
|
rs766490643
|
0.00001
|
|
NM_000308.4(CTSA):c.1195G>A (p.Val399Ile)
|
rs779857539
|
0.00001
|
|
NM_000308.4(CTSA):c.11C>G (p.Ala4Gly)
|
rs1986920005
|
0.00001
|
|
NM_000308.4(CTSA):c.1270C>T (p.Arg424Trp)
|
rs1247403237
|
0.00001
|
|
NM_000308.4(CTSA):c.1382C>A (p.Thr461Asn)
|
rs149971062
|
0.00001
|
|
NM_000308.4(CTSA):c.394G>A (p.Val132Met)
|
rs137854545
|
0.00001
|
|
NM_000308.4(CTSA):c.533G>C (p.Ser178Thr)
|
rs757124963
|
0.00001
|
|
NM_000308.4(CTSA):c.53T>G (p.Leu18Arg)
|
rs749819661
|
0.00001
|
|
NM_000308.4(CTSA):c.600+3G>A
|
rs1175825927
|
0.00001
|
|
NM_000308.4(CTSA):c.692+6G>A
|
rs199997385
|
0.00001
|
|
NM_000308.4(CTSA):c.724T>A (p.Ser242Thr)
|
rs1381644117
|
0.00001
|
|
NM_000308.4(CTSA):c.74G>A (p.Arg25Gln)
|
rs746200419
|
0.00001
|
|
NM_000308.4(CTSA):c.877A>G (p.Lys293Glu)
|
rs779873368
|
0.00001
|
|
NM_000340.2(SLC2A2):c.1069-10A>G
|
rs1487335649
|
0.00001
|
|
NM_000340.2(SLC2A2):c.1097G>A (p.Arg366His)
|
rs755000812
|
0.00001
|
|
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg)
|
rs760200790
|
0.00001
|
|
NM_000340.2(SLC2A2):c.1388C>A (p.Pro463His)
|
rs1272353608
|
0.00001
|
|
NM_000340.2(SLC2A2):c.1463A>G (p.Lys488Arg)
|
rs777806589
|
0.00001
|
|
NM_000340.2(SLC2A2):c.495T>C (p.Cys165=)
|
rs5401
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1120A>G (p.Met374Val)
|
rs1397555319
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1127A>G (p.Asn376Ser)
|
rs779179648
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1256A>G (p.Glu419Gly)
|
rs1414911182
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1276G>A (p.Gly426Arg)
|
rs1304151494
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1360G>A (p.Asp454Asn)
|
rs202145392
|
0.00001
|
|
NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys)
|
rs767673239
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1642A>T (p.Thr548Ser)
|
rs945722283
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1765G>T (p.Glu589Ter)
|
rs199727071
|
0.00001
|
|
NM_000343.4(SLC5A1):c.182C>T (p.Ala61Val)
|
rs1277952619
|
0.00001
|
|
NM_000343.4(SLC5A1):c.206C>T (p.Pro69Leu)
|
rs199683554
|
0.00001
|
|
NM_000343.4(SLC5A1):c.207+2dup
|
rs766189236
|
0.00001
|
|
NM_000343.4(SLC5A1):c.325G>T (p.Val109Leu)
|
rs1260871547
|
0.00001
|
|
NM_000343.4(SLC5A1):c.404G>A (p.Arg135Gln)
|
rs373203939
|
0.00001
|
|
NM_000343.4(SLC5A1):c.43C>T (p.Arg15Trp)
|
rs33915717
|
0.00001
|
|
NM_000343.4(SLC5A1):c.477G>A (p.Ser159=)
|
rs775435397
|
0.00001
|
|
NM_000343.4(SLC5A1):c.650T>C (p.Ile217Thr)
|
rs1253967489
|
0.00001
|
|
NM_000343.4(SLC5A1):c.691G>A (p.Ala231Thr)
|
rs202020538
|
0.00001
|
|
NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly)
|
rs121912669
|
0.00001
|
|
NM_000404.4(GLB1):c.1202T>C (p.Leu401Pro)
|
rs1301956348
|
0.00001
|
|
NM_000404.4(GLB1):c.1202T>G (p.Leu401Arg)
|
rs1301956348
|
0.00001
|
|
NM_000404.4(GLB1):c.1241G>A (p.Gly414Glu)
|
rs1399147380
|
0.00001
|
|
NM_000404.4(GLB1):c.1261A>G (p.Thr421Ala)
|
rs779877504
|
0.00001
|
|
NM_000404.4(GLB1):c.1643T>A (p.Leu548His)
|
rs1335107953
|
0.00001
|
|
NM_000404.4(GLB1):c.1753G>A (p.Gly585Ser)
|
rs1291361971
|
0.00001
|
|
NM_000404.4(GLB1):c.1852G>A (p.Val618Met)
|
rs1375909576
|
0.00001
|
|
NM_000404.4(GLB1):c.1873C>T (p.Pro625Ser)
|
rs755581184
|
0.00001
|
|
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter)
|
rs758168173
|
0.00001
|
|
NM_000404.4(GLB1):c.2009A>G (p.Lys670Arg)
|
rs764348340
|
0.00001
|
|
NM_000404.4(GLB1):c.20G>C (p.Arg7Pro)
|
rs1484753571
|
0.00001
|
|
NM_000404.4(GLB1):c.295T>A (p.Ser99Thr)
|
rs968429427
|
0.00001
|
|
NM_000404.4(GLB1):c.434T>C (p.Ile145Thr)
|
rs1416369501
|
0.00001
|
|
NM_000404.4(GLB1):c.524A>G (p.Gln175Arg)
|
rs367692210
|
0.00001
|
|
NM_000404.4(GLB1):c.703G>A (p.Gly235Ser)
|
rs766019573
|
0.00001
|
|
NM_000404.4(GLB1):c.836A>G (p.Gln279Arg)
|
rs1185364016
|
0.00001
|
|
NM_000404.4(GLB1):c.845C>T (p.Ser282Phe)
|
rs1261599031
|
0.00001
|
|
NM_000404.4(GLB1):c.850A>G (p.Ile284Val)
|
rs746547573
|
0.00001
|
|
NM_000404.4(GLB1):c.884A>G (p.Asp295Gly)
|
rs76016860
|
0.00001
|
|
NM_000404.4(GLB1):c.944C>A (p.Ala315Asp)
|
rs1284882385
|
0.00001
|
|
NM_000507.4(FBP1):c.916G>A (p.Val306Ile)
|
rs865779742
|
0.00001
|
|
NM_000507.4(FBP1):c.977T>C (p.Leu326Pro)
|
rs759227114
|
0.00001
|
|
NM_000512.5(GALNS):c.1062C>T (p.Gly354=)
|
rs1910972322
|
0.00001
|
|
NM_000512.5(GALNS):c.1067C>T (p.Thr356Met)
|
rs1017572961
|
0.00001
|
|
NM_000512.5(GALNS):c.1105C>T (p.Leu369Phe)
|
rs368784505
|
0.00001
|
|
NM_000512.5(GALNS):c.1126C>T (p.Arg376Trp)
|
rs762690924
|
0.00001
|
|
NM_000512.5(GALNS):c.13G>A (p.Val5Ile)
|
rs1415400985
|
0.00001
|
|
NM_000512.5(GALNS):c.1441C>T (p.Pro481Ser)
|
rs781512359
|
0.00001
|
|
NM_000512.5(GALNS):c.1471T>C (p.Trp491Arg)
|
rs753344649
|
0.00001
|
|
NM_000512.5(GALNS):c.167C>A (p.Thr56Asn)
|
rs1967037775
|
0.00001
|
|
NM_000512.5(GALNS):c.241C>T (p.Pro81Ser)
|
rs765151762
|
0.00001
|
|
NM_000512.5(GALNS):c.251C>T (p.Ala84Val)
|
rs141340188
|
0.00001
|
|
NM_000512.5(GALNS):c.394G>A (p.Gly132Ser)
|
rs766859208
|
0.00001
|
|
NM_000512.5(GALNS):c.66G>T (p.Met22Ile)
|
rs1427287935
|
0.00001
|
|
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)
|
rs775300515
|
0.00001
|
|
NM_000512.5(GALNS):c.764G>A (p.Gly255Glu)
|
rs1912009292
|
0.00001
|
|
NM_000512.5(GALNS):c.847G>A (p.Val283Ile)
|
rs772097990
|
0.00001
|
|
NM_000512.5(GALNS):c.898+4A>G
|
rs774518058
|
0.00001
|
|
NM_000512.5(GALNS):c.947G>A (p.Gly316Glu)
|
rs1057518404
|
0.00001
|
|
NM_000512.5(GALNS):c.988G>A (p.Val330Ile)
|
rs767856715
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1114G>T (p.Val372Leu)
|
rs745579139
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1142C>T (p.Ala381Val)
|
rs971436574
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1230G>C (p.Gln410His)
|
rs563097824
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val)
|
rs772853856
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1309A>G (p.Asn437Asp)
|
rs370036738
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1313A>T (p.Glu438Val)
|
rs867708818
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1337A>C (p.His446Pro)
|
rs1470391256
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1345G>A (p.Val449Ile)
|
rs764898305
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1420G>T (p.Val474Phe)
|
rs1276104443
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1514A>G (p.Gln505Arg)
|
rs2023977189
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1568A>C (p.Asn523Thr)
|
rs2023967508
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1586C>T (p.Pro529Leu)
|
rs1330706618
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1774G>A (p.Ala592Thr)
|
rs766021102
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1889A>G (p.Asn630Ser)
|
rs539124424
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1945G>T (p.Gly649Cys)
|
rs1481077295
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1954G>A (p.Glu652Lys)
|
rs756680048
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1994A>T (p.Asn665Ile)
|
rs762894770
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2065G>A (p.Val689Met)
|
rs778745390
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2101G>A (p.Val701Ile)
|
rs561720564
|
0.00001
|
|
NM_000528.4(MAN2B1):c.212C>T (p.Thr71Ile)
|
rs1458969193
|
0.00001
|
|
NM_000528.4(MAN2B1):c.218A>G (p.Asp73Gly)
|
rs781046464
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2207C>T (p.Pro736Leu)
|
rs1270784757
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2225G>A (p.Arg742His)
|
rs370551216
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys)
|
rs772742355
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2489T>C (p.Met830Thr)
|
rs1438173166
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2509T>C (p.Trp837Arg)
|
rs760097655
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2561C>T (p.Ala854Val)
|
rs775204651
|
0.00001
|
|
NM_000528.4(MAN2B1):c.26G>A (p.Gly9Glu)
|
rs1170799731
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2737G>A (p.Val913Met)
|
rs929568109
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile)
|
rs755553683
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2803G>A (p.Val935Ile)
|
rs765269491
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2846C>T (p.Thr949Ile)
|
rs377567861
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2885G>A (p.Arg962His)
|
rs750173812
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2906A>G (p.Lys969Arg)
|
rs1323141015
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2960C>T (p.Pro987Leu)
|
rs373174565
|
0.00001
|
|
NM_000528.4(MAN2B1):c.309G>A (p.Ser103=)
|
rs1175779934
|
0.00001
|
|
NM_000528.4(MAN2B1):c.334C>T (p.Pro112Ser)
|
rs1312728452
|
0.00001
|
|
NM_000528.4(MAN2B1):c.436G>A (p.Gly146Arg)
|
rs767951916
|
0.00001
|
|
NM_000528.4(MAN2B1):c.469A>T (p.Met157Leu)
|
rs1216161567
|
0.00001
|
|
NM_000528.4(MAN2B1):c.50A>G (p.Asp17Gly)
|
rs755738320
|
0.00001
|
|
NM_000528.4(MAN2B1):c.55G>A (p.Ala19Thr)
|
rs1346520961
|
0.00001
|
|
NM_000528.4(MAN2B1):c.565C>A (p.Pro189Thr)
|
rs750137512
|
0.00001
|
|
NM_000528.4(MAN2B1):c.59G>A (p.Gly20Asp)
|
rs1220611493
|
0.00001
|
|
NM_000528.4(MAN2B1):c.602C>G (p.Ser201Cys)
|
rs776241681
|
0.00001
|
|
NM_000528.4(MAN2B1):c.619C>A (p.Leu207Met)
|
rs778300782
|
0.00001
|
|
NM_000528.4(MAN2B1):c.62C>A (p.Pro21His)
|
rs1408334891
|
0.00001
|
|
NM_000528.4(MAN2B1):c.767T>G (p.Val256Gly)
|
rs1407251533
|
0.00001
|
|
NM_000528.4(MAN2B1):c.830C>T (p.Pro277Leu)
|
rs779091097
|
0.00001
|
|
NM_000528.4(MAN2B1):c.914G>A (p.Arg305Gln)
|
rs781394900
|
0.00001
|
|
NM_000528.4(MAN2B1):c.946A>G (p.Met316Val)
|
rs373636903
|
0.00001
|
|
NM_000528.4(MAN2B1):c.94C>A (p.Leu32Ile)
|
rs1471471874
|
0.00001
|
|
NM_000642.3(AGL):c.101G>A (p.Arg34Gln)
|
rs746265668
|
0.00001
|
|
NM_000642.3(AGL):c.1050G>A (p.Met350Ile)
|
rs140872573
|
0.00001
|
|
NM_000642.3(AGL):c.1064C>T (p.Thr355Met)
|
rs557516658
|
0.00001
|
|
NM_000642.3(AGL):c.1082+4T>A
|
rs781204563
|
0.00001
|
|
NM_000642.3(AGL):c.1172A>G (p.Tyr391Cys)
|
rs775949246
|
0.00001
|
|
NM_000642.3(AGL):c.1196G>A (p.Cys399Tyr)
|
rs1336333560
|
0.00001
|
|
NM_000642.3(AGL):c.1199T>C (p.Leu400Pro)
|
rs1275707003
|
0.00001
|
|
NM_000642.3(AGL):c.1235A>G (p.His412Arg)
|
rs762046235
|
0.00001
|
|
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu)
|
rs758882822
|
0.00001
|
|
NM_000642.3(AGL):c.1255G>A (p.Val419Ile)
|
rs1236981513
|
0.00001
|
|
NM_000642.3(AGL):c.1283+5_1283+6insA
|
rs1651444028
|
0.00001
|
|
NM_000642.3(AGL):c.1310T>G (p.Ile437Arg)
|
rs1382017908
|
0.00001
|
|
NM_000642.3(AGL):c.1372C>A (p.His458Asn)
|
rs1184815690
|
0.00001
|
|
NM_000642.3(AGL):c.1387A>G (p.Met463Val)
|
rs1557759698
|
0.00001
|
|
NM_000642.3(AGL):c.1388T>A (p.Met463Lys)
|
rs775358277
|
0.00001
|
|
NM_000642.3(AGL):c.1389G>A (p.Met463Ile)
|
rs749084039
|
0.00001
|
|
NM_000642.3(AGL):c.1424-7T>A
|
rs570061109
|
0.00001
|
|
NM_000642.3(AGL):c.1429G>C (p.Glu477Gln)
|
rs371406517
|
0.00001
|
|
NM_000642.3(AGL):c.1484A>G (p.Tyr495Cys)
|
rs746119079
|
0.00001
|
|
NM_000642.3(AGL):c.151C>T (p.Pro51Ser)
|
rs367591347
|
0.00001
|
|
NM_000642.3(AGL):c.1541A>G (p.Glu514Gly)
|
rs766138863
|
0.00001
|
|
NM_000642.3(AGL):c.1553C>G (p.Thr518Ser)
|
rs1293030648
|
0.00001
|
|
NM_000642.3(AGL):c.1570C>T (p.Arg524Cys)
|
rs1267203580
|
0.00001
|
|
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly)
|
rs777393482
|
0.00001
|
|
NM_000642.3(AGL):c.1651T>C (p.Tyr551His)
|
rs748270013
|
0.00001
|
|
NM_000642.3(AGL):c.1667T>C (p.Leu556Pro)
|
rs1367922922
|
0.00001
|
|
NM_000642.3(AGL):c.1679G>A (p.Ser560Asn)
|
rs1365513585
|
0.00001
|
|
NM_000642.3(AGL):c.1747G>A (p.Ala583Thr)
|
rs762347255
|
0.00001
|
|
NM_000642.3(AGL):c.1858C>G (p.Leu620Val)
|
rs200933503
|
0.00001
|
|
NM_000642.3(AGL):c.1874C>T (p.Thr625Met)
|
rs147569805
|
0.00001
|
|
NM_000642.3(AGL):c.187C>T (p.Arg63Cys)
|
rs778524671
|
0.00001
|
|
NM_000642.3(AGL):c.1889G>T (p.Cys630Phe)
|
rs757479682
|
0.00001
|
|
NM_000642.3(AGL):c.1899+3A>G
|
rs1461972561
|
0.00001
|
|
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr)
|
rs372501843
|
0.00001
|
|
NM_000642.3(AGL):c.1910C>T (p.Ala637Val)
|
rs1488937187
|
0.00001
|
|
NM_000642.3(AGL):c.1939G>A (p.Val647Ile)
|
rs770836797
|
0.00001
|
|
NM_000642.3(AGL):c.1943C>G (p.Ser648Cys)
|
rs1229397880
|
0.00001
|
|
NM_000642.3(AGL):c.1963G>A (p.Gly655Arg)
|
rs1651984153
|
0.00001
|
|
NM_000642.3(AGL):c.1975G>A (p.Gly659Ser)
|
rs773274876
|
0.00001
|
|
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser)
|
rs188519129
|
0.00001
|
|
NM_000642.3(AGL):c.2001+3T>G
|
rs1392738838
|
0.00001
|
|
NM_000642.3(AGL):c.2011G>A (p.Val671Ile)
|
rs1243258727
|
0.00001
|
|
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp)
|
rs765749454
|
0.00001
|
|
NM_000642.3(AGL):c.2040G>T (p.Trp680Cys)
|
rs756760991
|
0.00001
|
|
NM_000642.3(AGL):c.2051C>T (p.Ala684Val)
|
rs1284824337
|
0.00001
|
|
NM_000642.3(AGL):c.2068G>T (p.Gly690Cys)
|
rs780205320
|
0.00001
|
|
NM_000642.3(AGL):c.209C>T (p.Pro70Leu)
|
rs1299427640
|
0.00001
|
|
NM_000642.3(AGL):c.2114T>C (p.Ile705Thr)
|
rs776037609
|
0.00001
|
|
NM_000642.3(AGL):c.2147G>A (p.Gly716Asp)
|
rs751975324
|
0.00001
|
|
NM_000642.3(AGL):c.2157+4A>T
|
rs1178861512
|
0.00001
|
|
NM_000642.3(AGL):c.2213G>T (p.Ser738Ile)
|
rs1652034728
|
0.00001
|
|
NM_000642.3(AGL):c.2220T>A (p.His740Gln)
|
rs767062664
|
0.00001
|
|
NM_000642.3(AGL):c.222A>T (p.Glu74Asp)
|
rs1264891129
|
0.00001
|
|
NM_000642.3(AGL):c.2270C>T (p.Ser757Leu)
|
rs746130741
|
0.00001
|
|
NM_000642.3(AGL):c.2308+4A>G
|
rs773741361
|
0.00001
|
|
NM_000642.3(AGL):c.2314A>C (p.Ile772Leu)
|
rs1237999305
|
0.00001
|
|
NM_000642.3(AGL):c.2347G>A (p.Glu783Lys)
|
rs769386639
|
0.00001
|
|
NM_000642.3(AGL):c.2366A>C (p.Tyr789Ser)
|
rs145720433
|
0.00001
|
|
NM_000642.3(AGL):c.239A>G (p.Tyr80Cys)
|
rs1284127927
|
0.00001
|
|
NM_000642.3(AGL):c.2441A>C (p.Glu814Ala)
|
rs1316494416
|
0.00001
|
|
NM_000642.3(AGL):c.2465G>C (p.Gly822Ala)
|
rs752820851
|
0.00001
|
|
NM_000642.3(AGL):c.248T>G (p.Leu83Arg)
|
rs560703902
|
0.00001
|
|
NM_000642.3(AGL):c.2576C>T (p.Ala859Val)
|
rs746800661
|
0.00001
|
|
NM_000642.3(AGL):c.2591G>A (p.Arg864Gln)
|
rs776599112
|
0.00001
|
|
NM_000642.3(AGL):c.2597A>T (p.His866Leu)
|
rs367713487
|
0.00001
|
|
NM_000642.3(AGL):c.25A>G (p.Ile9Val)
|
rs1263396578
|
0.00001
|
|
NM_000642.3(AGL):c.2648A>G (p.Asn883Ser)
|
rs754212372
|
0.00001
|
|
NM_000642.3(AGL):c.265G>T (p.Gly89Cys)
|
rs778448781
|
0.00001
|
|
NM_000642.3(AGL):c.2680T>C (p.Ser894Pro)
|
rs200856850
|
0.00001
|
|
NM_000642.3(AGL):c.2681C>T (p.Ser894Phe)
|
rs866082714
|
0.00001
|
|
NM_000642.3(AGL):c.2687C>G (p.Ala896Gly)
|
rs777099171
|
0.00001
|
|
NM_000642.3(AGL):c.2694A>T (p.Arg898Ser)
|
rs757076841
|
0.00001
|
|
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)
|
rs772347559
|
0.00001
|
|
NM_000642.3(AGL):c.2761G>A (p.Gly921Arg)
|
rs199868334
|
0.00001
|
|
NM_000642.3(AGL):c.2773A>G (p.Ile925Val)
|
rs763812355
|
0.00001
|
|
NM_000642.3(AGL):c.2798A>G (p.Tyr933Cys)
|
rs756888005
|
0.00001
|
|
NM_000642.3(AGL):c.2800G>A (p.Ala934Thr)
|
rs1652588223
|
0.00001
|
|
NM_000642.3(AGL):c.2905T>C (p.Tyr969His)
|
rs1336583652
|
0.00001
|
|
NM_000642.3(AGL):c.2917C>T (p.Arg973Trp)
|
rs370787356
|
0.00001
|
|
NM_000642.3(AGL):c.2921T>C (p.Leu974Pro)
|
rs1652882425
|
0.00001
|
|
NM_000642.3(AGL):c.2942T>C (p.Ile981Thr)
|
rs138333678
|
0.00001
|
|
NM_000642.3(AGL):c.2950G>A (p.Val984Ile)
|
rs1160721945
|
0.00001
|
|
NM_000642.3(AGL):c.2972T>C (p.Met991Thr)
|
rs1412424871
|
0.00001
|
|
NM_000642.3(AGL):c.3047C>G (p.Thr1016Ser)
|
rs1221645372
|
0.00001
|
|
NM_000642.3(AGL):c.3084-5T>G
|
rs886178367
|
0.00001
|
|
NM_000642.3(AGL):c.3103A>G (p.Thr1035Ala)
|
rs765807003
|
0.00001
|
|
NM_000642.3(AGL):c.3119T>C (p.Leu1040Pro)
|
rs900064421
|
0.00001
|
|
NM_000642.3(AGL):c.311G>T (p.Gly104Val)
|
rs371973678
|
0.00001
|
|
NM_000642.3(AGL):c.3149T>C (p.Val1050Ala)
|
rs1652977376
|
0.00001
|
|
NM_000642.3(AGL):c.3164C>G (p.Ser1055Cys)
|
rs749163043
|
0.00001
|
|
NM_000642.3(AGL):c.317A>T (p.Tyr106Phe)
|
rs201888023
|
0.00001
|
|
NM_000642.3(AGL):c.3308C>G (p.Thr1103Ser)
|
rs765984761
|
0.00001
|
|
NM_000642.3(AGL):c.3316G>A (p.Ala1106Thr)
|
rs753449391
|
0.00001
|
|
NM_000642.3(AGL):c.3382G>A (p.Ala1128Thr)
|
rs1653752606
|
0.00001
|
|
NM_000642.3(AGL):c.3416T>G (p.Leu1139Arg)
|
rs1281040074
|
0.00001
|
|
NM_000642.3(AGL):c.3457G>A (p.Ala1153Thr)
|
rs1021861990
|
0.00001
|
|
NM_000642.3(AGL):c.3503T>A (p.Val1168Asp)
|
rs1247591998
|
0.00001
|
|
NM_000642.3(AGL):c.3551C>T (p.Pro1184Leu)
|
rs374498927
|
0.00001
|
|
NM_000642.3(AGL):c.367C>G (p.Pro123Ala)
|
rs372709840
|
0.00001
|
|
NM_000642.3(AGL):c.3683G>A (p.Arg1228Gln)
|
rs147214287
|
0.00001
|
|
NM_000642.3(AGL):c.3692A>G (p.Lys1231Arg)
|
rs750507211
|
0.00001
|
|
NM_000642.3(AGL):c.3709A>G (p.Ile1237Val)
|
rs1432839313
|
0.00001
|
|
NM_000642.3(AGL):c.3742G>A (p.Val1248Ile)
|
rs1240157988
|
0.00001
|
|
NM_000642.3(AGL):c.3746A>T (p.Tyr1249Phe)
|
rs1198709856
|
0.00001
|
|
NM_000642.3(AGL):c.3757C>A (p.Arg1253Ser)
|
rs375531470
|
0.00001
|
|
NM_000642.3(AGL):c.3762C>A (p.Phe1254Leu)
|
rs1324875747
|
0.00001
|
|
NM_000642.3(AGL):c.3783T>G (p.Asp1261Glu)
|
rs771249925
|
0.00001
|
|
NM_000642.3(AGL):c.3812A>G (p.Asn1271Ser)
|
rs892629109
|
0.00001
|
|
NM_000642.3(AGL):c.3830C>T (p.Thr1277Ile)
|
rs751959174
|
0.00001
|
|
NM_000642.3(AGL):c.3836+4G>A
|
rs1488570554
|
0.00001
|
|
NM_000642.3(AGL):c.3840T>G (p.Asp1280Glu)
|
rs778956378
|
0.00001
|
|
NM_000642.3(AGL):c.3883C>T (p.Arg1295Cys)
|
rs1238498134
|
0.00001
|
|
NM_000642.3(AGL):c.3913A>G (p.Ile1305Val)
|
rs1264514559
|
0.00001
|
|
NM_000642.3(AGL):c.3976G>A (p.Glu1326Lys)
|
rs1168287000
|
0.00001
|
|
NM_000642.3(AGL):c.4079G>A (p.Gly1360Asp)
|
rs1361507097
|
0.00001
|
|
NM_000642.3(AGL):c.40G>A (p.Glu14Lys)
|
rs749411087
|
0.00001
|
|
NM_000642.3(AGL):c.413G>A (p.Gly138Glu)
|
rs773384152
|
0.00001
|
|
NM_000642.3(AGL):c.4163C>T (p.Ala1388Val)
|
rs752877022
|
0.00001
|
|
NM_000642.3(AGL):c.4184A>G (p.Glu1395Gly)
|
rs371446246
|
0.00001
|
|
NM_000642.3(AGL):c.4195A>G (p.Lys1399Glu)
|
rs772026557
|
0.00001
|
|
NM_000642.3(AGL):c.4255C>T (p.Pro1419Ser)
|
rs532926173
|
0.00001
|
|
NM_000642.3(AGL):c.4260-3C>T
|
rs1334595745
|
0.00001
|
|
NM_000642.3(AGL):c.4266G>T (p.Met1422Ile)
|
rs755347576
|
0.00001
|
|
NM_000642.3(AGL):c.4273T>C (p.Cys1425Arg)
|
rs777134108
|
0.00001
|
|
NM_000642.3(AGL):c.4301A>G (p.Asn1434Ser)
|
rs775357608
|
0.00001
|
|
NM_000642.3(AGL):c.4306A>C (p.Asn1436His)
|
rs372262923
|
0.00001
|
|
NM_000642.3(AGL):c.4313A>G (p.Asn1438Ser)
|
rs766592371
|
0.00001
|
|
NM_000642.3(AGL):c.4318G>A (p.Ala1440Thr)
|
rs754359314
|
0.00001
|
|
NM_000642.3(AGL):c.4363A>T (p.Ile1455Phe)
|
rs766952829
|
0.00001
|
|
NM_000642.3(AGL):c.4379G>A (p.Arg1460His)
|
rs546855663
|
0.00001
|
|
NM_000642.3(AGL):c.4412C>T (p.Pro1471Leu)
|
rs566536762
|
0.00001
|
|
NM_000642.3(AGL):c.4564A>G (p.Ile1522Val)
|
rs556986901
|
0.00001
|
|
NM_000642.3(AGL):c.4583C>T (p.Thr1528Ile)
|
rs769116515
|
0.00001
|
|
NM_000642.3(AGL):c.512C>T (p.Ser171Leu)
|
rs760243154
|
0.00001
|
|
NM_000642.3(AGL):c.515G>C (p.Cys172Ser)
|
rs766234642
|
0.00001
|
|
NM_000642.3(AGL):c.526G>A (p.Ala176Thr)
|
rs533806773
|
0.00001
|
|
NM_000642.3(AGL):c.598C>G (p.Leu200Val)
|
rs1171638572
|
0.00001
|
|
NM_000642.3(AGL):c.656A>G (p.Asn219Ser)
|
rs893488693
|
0.00001
|
|
NM_000642.3(AGL):c.665C>T (p.Ala222Val)
|
rs762643041
|
0.00001
|
|
NM_000642.3(AGL):c.681G>C (p.Trp227Cys)
|
rs753914653
|
0.00001
|
|
NM_000642.3(AGL):c.689A>C (p.Glu230Ala)
|
rs1275008400
|
0.00001
|
|
NM_000642.3(AGL):c.719A>G (p.Asn240Ser)
|
rs1336588763
|
0.00001
|
|
NM_000642.3(AGL):c.775T>C (p.Cys259Arg)
|
rs891527554
|
0.00001
|
|
NM_000642.3(AGL):c.809G>A (p.Gly270Glu)
|
rs1466350775
|
0.00001
|
|
NM_000642.3(AGL):c.814C>A (p.Pro272Thr)
|
rs754177225
|
0.00001
|
|
NM_000642.3(AGL):c.818C>G (p.Ala273Gly)
|
rs943273443
|
0.00001
|
|
NM_000642.3(AGL):c.864T>G (p.Ile288Met)
|
rs771965730
|
0.00001
|
|
NM_000642.3(AGL):c.885G>C (p.Lys295Asn)
|
rs778977370
|
0.00001
|
|
NM_000642.3(AGL):c.88G>A (p.Glu30Lys)
|
rs932386485
|
0.00001
|
|
NM_000642.3(AGL):c.8A>G (p.His3Arg)
|
rs752437446
|
0.00001
|
|
NM_000642.3(AGL):c.931G>A (p.Glu311Lys)
|
rs1553184646
|
0.00001
|
|
NM_000642.3(AGL):c.996C>A (p.His332Gln)
|
rs780811320
|
0.00001
|
|
NM_000891.3(KCNJ2):c.102G>C (p.Lys34Asn)
|
rs1476737505
|
0.00001
|
|
NM_000891.3(KCNJ2):c.1115A>G (p.Asn372Ser)
|
rs1279418065
|
0.00001
|
|
NM_000891.3(KCNJ2):c.1207C>A (p.Pro403Thr)
|
rs752406680
|
0.00001
|
|
NM_000891.3(KCNJ2):c.1268G>A (p.Arg423Gln)
|
rs745372216
|
0.00001
|
|
NM_000891.3(KCNJ2):c.14G>A (p.Arg5Gln)
|
rs764311511
|
0.00001
|
|
NM_000891.3(KCNJ2):c.179A>G (p.Asn60Ser)
|
rs1484750176
|
0.00001
|
|
NM_000891.3(KCNJ2):c.22C>T (p.Arg8Cys)
|
rs529080615
|
0.00001
|
|
NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe)
|
rs750630010
|
0.00001
|
|
NM_000891.3(KCNJ2):c.322C>G (p.Leu108Val)
|
rs371331394
|
0.00001
|
|
NM_000891.3(KCNJ2):c.389C>T (p.Thr130Met)
|
rs151168735
|
0.00001
|
|
NM_000891.3(KCNJ2):c.466A>G (p.Ile156Val)
|
rs767934529
|
0.00001
|
|
NM_000891.3(KCNJ2):c.476T>C (p.Phe159Ser)
|
rs1236228202
|
0.00001
|
|
NM_000891.3(KCNJ2):c.499G>A (p.Val167Met)
|
rs140147979
|
0.00001
|
|
NM_000891.3(KCNJ2):c.532G>A (p.Ala178Thr)
|
rs771965504
|
0.00001
|
|
NM_000891.3(KCNJ2):c.5_6insAAGTGTGCGAACCAACCGCTA (p.Val4_Ser10dup)
|
rs2074383942
|
0.00001
|
|
NM_000891.3(KCNJ2):c.604G>A (p.Ala202Thr)
|
rs759793133
|
0.00001
|
|
NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe)
|
rs779856198
|
0.00001
|
|
NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser)
|
rs1261477163
|
0.00001
|
|
NM_000891.3(KCNJ2):c.781A>G (p.Ile261Val)
|
rs774461588
|
0.00001
|
|
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp)
|
rs758092571
|
0.00001
|
|
NM_000891.3(KCNJ2):c.859A>C (p.Ile287Leu)
|
rs758054840
|
0.00001
|
|
NM_000891.3(KCNJ2):c.868G>A (p.Ala290Thr)
|
rs895505794
|
0.00001
|
|
NM_000891.3(KCNJ2):c.883G>A (p.Val295Met)
|
rs2074389817
|
0.00001
|
|
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser)
|
rs367560052
|
0.00001
|
|
NM_000925.4(PDHB):c.212G>A (p.Arg71Gln)
|
rs772939767
|
0.00001
|
|
NM_000925.4(PDHB):c.239A>G (p.Lys80Arg)
|
rs1455283629
|
0.00001
|
|
NM_000925.4(PDHB):c.782T>C (p.Val261Ala)
|
rs761614417
|
0.00001
|
|
NM_000925.4(PDHB):c.922A>G (p.Arg308Gly)
|
rs1237258897
|
0.00001
|
|
NM_001008216.2(GALE):c.1028G>C (p.Gly343Ala)
|
rs918539847
|
0.00001
|
|
NM_001008216.2(GALE):c.194T>C (p.Met65Thr)
|
rs781426540
|
0.00001
|
|
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp)
|
rs1243531358
|
0.00001
|
|
NM_001008216.2(GALE):c.382G>A (p.Val128Met)
|
rs778887800
|
0.00001
|
|
NM_001008216.2(GALE):c.398C>T (p.Ala133Val)
|
rs727503944
|
0.00001
|
|
NM_001008216.2(GALE):c.538G>A (p.Ala180Thr)
|
rs756590751
|
0.00001
|
|
NM_001008216.2(GALE):c.658C>T (p.Arg220Trp)
|
rs764909409
|
0.00001
|
|
NM_001008216.2(GALE):c.659G>C (p.Arg220Pro)
|
rs756780233
|
0.00001
|
|
NM_001008216.2(GALE):c.668T>C (p.Leu223Pro)
|
rs1457875051
|
0.00001
|
|
NM_001008216.2(GALE):c.710G>A (p.Gly237Asp)
|
rs756944736
|
0.00001
|
|
NM_001008216.2(GALE):c.899G>A (p.Arg300Gln)
|
rs1342042645
|
0.00001
|
|
NM_001008216.2(GALE):c.973G>A (p.Gly325Arg)
|
rs770436207
|
0.00001
|
|
NM_001040716.2(PC):c.1153C>T (p.Arg385Cys)
|
rs773109008
|
0.00001
|
|
NM_001040716.2(PC):c.1234G>A (p.Ala412Thr)
|
rs773645433
|
0.00001
|
|
NM_001040716.2(PC):c.127G>A (p.Ala43Thr)
|
rs756621649
|
0.00001
|
|
NM_001040716.2(PC):c.1524G>A (p.Met508Ile)
|
rs765499560
|
0.00001
|
|
NM_001040716.2(PC):c.1613C>T (p.Pro538Leu)
|
rs151174961
|
0.00001
|
|
NM_001040716.2(PC):c.1673G>A (p.Arg558Gln)
|
rs773005705
|
0.00001
|
|
NM_001040716.2(PC):c.1684G>C (p.Gly562Arg)
|
rs746060650
|
0.00001
|
|
NM_001040716.2(PC):c.1832C>T (p.Thr611Met)
|
rs757071897
|
0.00001
|
|
NM_001040716.2(PC):c.2024G>A (p.Arg675His)
|
rs375528540
|
0.00001
|
|
NM_001040716.2(PC):c.2365G>C (p.Ala789Pro)
|
rs1945435067
|
0.00001
|
|
NM_001040716.2(PC):c.2740G>A (p.Val914Met)
|
rs775626599
|
0.00001
|
|
NM_001040716.2(PC):c.2786C>G (p.Ala929Gly)
|
rs565678903
|
0.00001
|
|
NM_001040716.2(PC):c.331G>A (p.Val111Ile)
|
rs753573264
|
0.00001
|
|
NM_001040716.2(PC):c.374C>T (p.Ala125Val)
|
rs199678394
|
0.00001
|
|
NM_001040716.2(PC):c.487+7A>G
|
rs766680971
|
0.00001
|
|
NM_001040716.2(PC):c.679G>A (p.Ala227Thr)
|
rs773004288
|
0.00001
|
|
NM_001040716.2(PC):c.784G>A (p.Glu262Lys)
|
rs1324553572
|
0.00001
|
|
NM_001040716.2(PC):c.806G>A (p.Arg269Gln)
|
rs1349343839
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1084T>G (p.Cys362Gly)
|
rs958173659
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1103T>C (p.Ile368Thr)
|
rs370696612
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1118C>G (p.Ala373Gly)
|
rs193302901
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1124+2dup
|
rs1459811938
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1130G>A (p.Gly377Asp)
|
rs782665493
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1208T>C (p.Ile403Thr)
|
rs1555190374
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val)
|
rs782753044
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.145T>G (p.Leu49Val)
|
rs1277675258
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.149-3C>T
|
rs782625122
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.185T>G (p.Ile62Ser)
|
rs1555191621
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.202G>T (p.Gly68Trp)
|
rs193302885
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.23A>G (p.Tyr8Cys)
|
rs782446107
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.297A>G (p.Thr99=)
|
rs1273132953
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.310G>A (p.Ala104Thr)
|
rs781808875
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.323T>C (p.Phe108Ser)
|
rs1210339491
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp)
|
rs946341075
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val)
|
rs863224210
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.479C>G (p.Ala160Gly)
|
rs1438731101
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met)
|
rs754982680
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg)
|
rs1272300904
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.68T>A (p.Leu23Gln)
|
rs781982938
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly)
|
rs781834348
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.76T>C (p.Phe26Leu)
|
rs1468641405
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn)
|
rs193302900
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.923T>C (p.Met308Thr)
|
rs1555190738
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.940T>C (p.Ser314Pro)
|
rs1365079218
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.986-12T>C
|
rs1180556897
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.989G>C (p.Trp330Ser)
|
rs782282206
|
0.00001
|
|
NM_001243177.4(ALDOA):c.1069G>A (p.Gly357Ser)
|
rs746068220
|
0.00001
|
|
NM_001243177.4(ALDOA):c.217A>G (p.Ile73Val)
|
rs929389001
|
0.00001
|
|
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys)
|
rs199852002
|
0.00001
|
|
NM_001243177.4(ALDOA):c.436C>T (p.Arg146Cys)
|
rs776187312
|
0.00001
|
|
NM_001243177.4(ALDOA):c.520A>G (p.Asn174Asp)
|
rs775705038
|
0.00001
|
|
NM_001243177.4(ALDOA):c.563G>A (p.Arg188His)
|
rs778814633
|
0.00001
|
|
NM_001243177.4(ALDOA):c.572A>T (p.Gln191Leu)
|
rs1283845684
|
0.00001
|
|
NM_001243177.4(ALDOA):c.644C>T (p.Ala215Val)
|
rs1463243958
|
0.00001
|
|
NM_001243177.4(ALDOA):c.821A>G (p.His274Arg)
|
rs760807537
|
0.00001
|
|
NM_001243177.4(ALDOA):c.937C>T (p.Arg313Cys)
|
rs779421883
|
0.00001
|
|
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys)
|
rs763927037
|
0.00001
|
|
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val)
|
rs772156741
|
0.00001
|
|
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln)
|
rs886057076
|
0.00001
|
|
NM_001352514.2(HLCS):c.1951G>A (p.Glu651Lys)
|
rs1035549573
|
0.00001
|
|
NM_001352514.2(HLCS):c.2076G>A (p.Met692Ile)
|
rs1460453809
|
0.00001
|
|
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln)
|
rs769446135
|
0.00001
|
|
NM_001352514.2(HLCS):c.2266C>T (p.Pro756Ser)
|
rs1285498636
|
0.00001
|
|
NM_001352514.2(HLCS):c.2313C>G (p.His771Gln)
|
rs1376040224
|
0.00001
|
|
NM_001352514.2(HLCS):c.2339C>T (p.Ala780Val)
|
rs763760775
|
0.00001
|
|
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val)
|
rs748447457
|
0.00001
|
|
NM_001352514.2(HLCS):c.2485C>A (p.Pro829Thr)
|
rs1417729542
|
0.00001
|
|
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
|
rs1260631800
|
0.00001
|
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
|
NM_001352514.2(HLCS):c.494-8T>A
|
rs778287214
|
0.00001
|
|
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu)
|
rs759396333
|
0.00001
|
|
NM_001352514.2(HLCS):c.790A>G (p.Ile264Val)
|
rs1342427477
|
0.00001
|
|
NM_001352514.2(HLCS):c.970G>A (p.Gly324Ser)
|
rs574778377
|
0.00001
|
|
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)
|
rs782308266
|
0.00001
|
|
NM_001360016.2(G6PD):c.251G>A (p.Ser84Asn)
|
rs141830127
|
0.00001
|
|
NM_001360016.2(G6PD):c.574C>T (p.Arg192Cys)
|
rs1557230370
|
0.00001
|
|
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met)
|
rs782771682
|
0.00001
|
|
NM_001360016.2(G6PD):c.775G>A (p.Val259Met)
|
rs782690505
|
0.00001
|
|
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn)
|
rs781906610
|
0.00001
|
|
NM_001365304.2(LOC112694756):c.*621+5G>A
|
rs774939475
|
0.00001
|
|
NM_001370658.1(BTD):c.-59T>A
|
rs768258310
|
0.00001
|
|
NM_001370658.1(BTD):c.1013A>G (p.His338Arg)
|
rs1379845261
|
0.00001
|
|
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)
|
rs886058115
|
0.00001
|
|
NM_001370658.1(BTD):c.1051T>C (p.Cys351Arg)
|
rs775369290
|
0.00001
|
|
NM_001370658.1(BTD):c.1144A>G (p.Asn382Asp)
|
rs147188293
|
0.00001
|
|
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)
|
rs397514405
|
0.00001
|
|
NM_001370658.1(BTD):c.1159C>T (p.Pro387Ser)
|
rs777799585
|
0.00001
|
|
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)
|
rs397514409
|
0.00001
|
|
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)
|
rs397514419
|
0.00001
|
|
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val)
|
rs1223614917
|
0.00001
|
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
0.00001
|
|
NM_001370658.1(BTD):c.1473G>C (p.Gln491His)
|
rs764375610
|
0.00001
|
|
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)
|
rs397514366
|
0.00001
|
|
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly)
|
rs541012569
|
0.00001
|
|
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)
|
rs397514376
|
0.00001
|
|
NM_001370658.1(BTD):c.591T>G (p.Phe197Leu)
|
rs767750851
|
0.00001
|
|
NM_001370658.1(BTD):c.912C>G (p.Asp304Glu)
|
rs1449860088
|
0.00001
|
|
NM_001370658.1(BTD):c.917A>G (p.Glu306Gly)
|
rs747059644
|
0.00001
|
|
NM_001370658.1(BTD):c.944C>T (p.Ala315Val)
|
rs1465883743
|
0.00001
|
|
NM_001739.2(CA5A):c.110G>A (p.Arg37His)
|
rs775785856
|
0.00001
|
|
NM_001739.2(CA5A):c.235C>G (p.Gln79Glu)
|
rs773608071
|
0.00001
|
|
NM_001739.2(CA5A):c.412G>A (p.Glu138Lys)
|
rs747262976
|
0.00001
|
|
NM_001739.2(CA5A):c.427C>G (p.His143Asp)
|
rs1407821429
|
0.00001
|
|
NM_001739.2(CA5A):c.473A>C (p.His158Pro)
|
rs754607374
|
0.00001
|
|
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro)
|
rs587777316
|
0.00001
|
|
NM_001931.5(DLAT):c.1202C>T (p.Pro401Leu)
|
rs781794850
|
0.00001
|
|
NM_001931.5(DLAT):c.1285C>A (p.Arg429Ser)
|
rs782233322
|
0.00001
|
|
NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu)
|
rs1221769620
|
0.00001
|
|
NM_001931.5(DLAT):c.1447G>C (p.Ala483Pro)
|
rs1555181965
|
0.00001
|
|
NM_001931.5(DLAT):c.1535G>A (p.Ser512Asn)
|
rs113521778
|
0.00001
|
|
NM_001931.5(DLAT):c.1645A>G (p.Arg549Gly)
|
rs147456178
|
0.00001
|
|
NM_001931.5(DLAT):c.1664C>A (p.Pro555Gln)
|
rs1864460439
|
0.00001
|
|
NM_001931.5(DLAT):c.1669G>A (p.Glu557Lys)
|
rs1864460815
|
0.00001
|
|
NM_001931.5(DLAT):c.1677+4G>C
|
rs782793536
|
0.00001
|
|
NM_001931.5(DLAT):c.325G>A (p.Ala109Thr)
|
rs782271482
|
0.00001
|
|
NM_001931.5(DLAT):c.32A>C (p.Asn11Thr)
|
rs1035034726
|
0.00001
|
|
NM_001931.5(DLAT):c.343G>A (p.Glu115Lys)
|
rs200147835
|
0.00001
|
|
NM_001931.5(DLAT):c.381+5_381+6insC
|
rs782376838
|
0.00001
|
|
NM_001931.5(DLAT):c.381+6T>G
|
rs1555179251
|
0.00001
|
|
NM_001931.5(DLAT):c.898A>G (p.Ile300Val)
|
rs1198304536
|
0.00001
|
|
NM_001931.5(DLAT):c.983C>T (p.Ala328Val)
|
rs781861956
|
0.00001
|
|
NM_002076.4(GNS):c.1147G>A (p.Gly383Ser)
|
rs756633427
|
0.00001
|
|
NM_002076.4(GNS):c.1204G>A (p.Gly402Ser)
|
rs1364524364
|
0.00001
|
|
NM_002076.4(GNS):c.1251A>G (p.Gln417=)
|
rs1324161117
|
0.00001
|
|
NM_002076.4(GNS):c.1262G>A (p.Arg421His)
|
rs774084161
|
0.00001
|
|
NM_002076.4(GNS):c.1321G>A (p.Asp441Asn)
|
rs1345511245
|
0.00001
|
|
NM_002076.4(GNS):c.1597C>T (p.Arg533Cys)
|
rs1430079019
|
0.00001
|
|
NM_002076.4(GNS):c.1603A>G (p.Met535Val)
|
rs1320846022
|
0.00001
|
|
NM_002076.4(GNS):c.160A>G (p.Thr54Ala)
|
rs768291103
|
0.00001
|
|
NM_002076.4(GNS):c.1616G>A (p.Arg539His)
|
rs766615352
|
0.00001
|
|
NM_002076.4(GNS):c.1634G>A (p.Arg545Gln)
|
rs756752200
|
0.00001
|
|
NM_002076.4(GNS):c.1658A>G (p.Ter553Trp)
|
rs766745346
|
0.00001
|
|
NM_002076.4(GNS):c.531G>T (p.Lys177Asn)
|
rs1435047831
|
0.00001
|
|
NM_002076.4(GNS):c.653A>G (p.Tyr218Cys)
|
rs777980972
|
0.00001
|
|
NM_002076.4(GNS):c.682A>G (p.Met228Val)
|
rs1338194520
|
0.00001
|
|
NM_002076.4(GNS):c.73G>A (p.Ala25Thr)
|
rs540537083
|
0.00001
|
|
NM_002076.4(GNS):c.850T>C (p.Phe284Leu)
|
rs978501400
|
0.00001
|
|
NM_002076.4(GNS):c.980A>G (p.Asn327Ser)
|
rs778927646
|
0.00001
|
|
NM_002103.5(GYS1):c.1012G>C (p.Gly338Arg)
|
rs1214342035
|
0.00001
|
|
NM_002103.5(GYS1):c.1021G>A (p.Val341Ile)
|
rs751121252
|
0.00001
|
|
NM_002103.5(GYS1):c.1043G>A (p.Arg348Gln)
|
rs767829857
|
0.00001
|
|
NM_002103.5(GYS1):c.1052A>G (p.Tyr351Cys)
|
rs769215150
|
0.00001
|
|
NM_002103.5(GYS1):c.1062+5G>A
|
rs199937247
|
0.00001
|
|
NM_002103.5(GYS1):c.1177G>A (p.Ala393Thr)
|
rs1234293707
|
0.00001
|
|
NM_002103.5(GYS1):c.117G>C (p.Lys39Asn)
|
rs1340897578
|
0.00001
|
|
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met)
|
rs748765779
|
0.00001
|
|
NM_002103.5(GYS1):c.1261G>C (p.Asp421His)
|
rs763908374
|
0.00001
|
|
NM_002103.5(GYS1):c.1318T>C (p.Phe440Leu)
|
rs756191455
|
0.00001
|
|
NM_002103.5(GYS1):c.135G>A (p.Thr45=)
|
rs558436703
|
0.00001
|
|
NM_002103.5(GYS1):c.1385G>A (p.Arg462Gln)
|
rs774914573
|
0.00001
|
|
NM_002103.5(GYS1):c.1475A>T (p.Asp492Val)
|
rs949286022
|
0.00001
|
|
NM_002103.5(GYS1):c.1493G>A (p.Arg498His)
|
rs757918424
|
0.00001
|
|
NM_002103.5(GYS1):c.1544C>T (p.Thr515Ile)
|
rs1395831465
|
0.00001
|
|
NM_002103.5(GYS1):c.1547C>T (p.Pro516Leu)
|
rs907999376
|
0.00001
|
|
NM_002103.5(GYS1):c.1548G>A (p.Pro516=)
|
rs1460204907
|
0.00001
|
|
NM_002103.5(GYS1):c.1594T>A (p.Ser532Thr)
|
rs2038555927
|
0.00001
|
|
NM_002103.5(GYS1):c.1624A>G (p.Ile542Val)
|
rs768029465
|
0.00001
|
|
NM_002103.5(GYS1):c.1718G>A (p.Ser573Asn)
|
rs1207102551
|
0.00001
|
|
NM_002103.5(GYS1):c.1810T>A (p.Tyr604Asn)
|
rs2038528451
|
0.00001
|
|
NM_002103.5(GYS1):c.1834G>C (p.Ala612Pro)
|
rs763358013
|
0.00001
|
|
NM_002103.5(GYS1):c.1859A>G (p.His620Arg)
|
rs2038526603
|
0.00001
|
|
NM_002103.5(GYS1):c.1870G>A (p.Glu624Lys)
|
rs757274657
|
0.00001
|
|
NM_002103.5(GYS1):c.1910C>T (p.Pro637Leu)
|
rs2038521859
|
0.00001
|
|
NM_002103.5(GYS1):c.1990C>T (p.Arg664Trp)
|
rs886054568
|
0.00001
|
|
NM_002103.5(GYS1):c.2008G>A (p.Glu670Lys)
|
rs1177489919
|
0.00001
|
|
NM_002103.5(GYS1):c.2009A>G (p.Glu670Gly)
|
rs1416976109
|
0.00001
|
|
NM_002103.5(GYS1):c.200C>T (p.Pro67Leu)
|
rs376369611
|
0.00001
|
|
NM_002103.5(GYS1):c.2012A>T (p.Asp671Val)
|
rs780892427
|
0.00001
|
|
NM_002103.5(GYS1):c.2017G>A (p.Glu673Lys)
|
rs1024472621
|
0.00001
|
|
NM_002103.5(GYS1):c.2027_2028del (p.Asp676fs)
|
rs2038518269
|
0.00001
|
|
NM_002103.5(GYS1):c.2038G>A (p.Glu680Lys)
|
rs754310863
|
0.00001
|
|
NM_002103.5(GYS1):c.2110A>G (p.Ser704Gly)
|
rs1201413420
|
0.00001
|
|
NM_002103.5(GYS1):c.217G>A (p.Val73Met)
|
rs370035815
|
0.00001
|
|
NM_002103.5(GYS1):c.21G>C (p.Leu7Phe)
|
rs1437155160
|
0.00001
|
|
NM_002103.5(GYS1):c.2203G>C (p.Glu735Gln)
|
rs546920953
|
0.00001
|
|
NM_002103.5(GYS1):c.2206C>T (p.Arg736Cys)
|
rs1369955206
|
0.00001
|
|
NM_002103.5(GYS1):c.2209A>T (p.Asn737Tyr)
|
rs1042146137
|
0.00001
|
|
NM_002103.5(GYS1):c.2214A>T (p.Ter738Tyr)
|
rs1310157370
|
0.00001
|
|
NM_002103.5(GYS1):c.278C>T (p.Ser93Phe)
|
rs754411503
|
0.00001
|
|
NM_002103.5(GYS1):c.300+3G>A
|
rs199823455
|
0.00001
|
|
NM_002103.5(GYS1):c.310G>A (p.Gly104Arg)
|
rs763807232
|
0.00001
|
|
NM_002103.5(GYS1):c.314G>A (p.Arg105His)
|
rs775388088
|
0.00001
|
|
NM_002103.5(GYS1):c.362C>T (p.Ala121Val)
|
rs778349716
|
0.00001
|
|
NM_002103.5(GYS1):c.383G>A (p.Arg128His)
|
rs755470149
|
0.00001
|
|
NM_002103.5(GYS1):c.418G>A (p.Gly140Arg)
|
rs754705699
|
0.00001
|
|
NM_002103.5(GYS1):c.448G>A (p.Asp150Asn)
|
rs548135246
|
0.00001
|
|
NM_002103.5(GYS1):c.578C>T (p.Ala193Val)
|
rs750379099
|
0.00001
|
|
NM_002103.5(GYS1):c.581G>A (p.Arg194Gln)
|
rs1044957678
|
0.00001
|
|
NM_002103.5(GYS1):c.620C>T (p.Thr207Met)
|
rs760191000
|
0.00001
|
|
NM_002103.5(GYS1):c.683A>G (p.Asn228Ser)
|
rs761764430
|
0.00001
|
|
NM_002103.5(GYS1):c.754G>A (p.Ala252Thr)
|
rs376523274
|
0.00001
|
|
NM_002103.5(GYS1):c.760G>A (p.Val254Ile)
|
rs757728625
|
0.00001
|
|
NM_002103.5(GYS1):c.793G>A (p.Glu265Lys)
|
rs138606563
|
0.00001
|
|
NM_002294.3(LAMP2):c.1001A>G (p.Glu334Gly)
|
rs1319752625
|
0.00001
|
|
NM_002294.3(LAMP2):c.1006A>T (p.Thr336Ser)
|
rs1343337245
|
0.00001
|
|
NM_002294.3(LAMP2):c.1067A>G (p.Asn356Ser)
|
rs775416221
|
0.00001
|
|
NM_002294.3(LAMP2):c.1069G>A (p.Val357Met)
|
rs886038907
|
0.00001
|
|
NM_002294.3(LAMP2):c.10T>C (p.Phe4Leu)
|
rs1375151119
|
0.00001
|
|
NM_002294.3(LAMP2):c.178A>G (p.Thr60Ala)
|
rs1207512652
|
0.00001
|
|
NM_002294.3(LAMP2):c.188C>T (p.Thr63Ile)
|
rs1358581771
|
0.00001
|
|
NM_002294.3(LAMP2):c.205C>T (p.His69Tyr)
|
rs776875696
|
0.00001
|
|
NM_002294.3(LAMP2):c.209G>T (p.Gly70Val)
|
rs1340367353
|
0.00001
|
|
NM_002294.3(LAMP2):c.214G>A (p.Val72Met)
|
rs778193991
|
0.00001
|
|
NM_002294.3(LAMP2):c.23C>T (p.Pro8Leu)
|
rs878854484
|
0.00001
|
|
NM_002294.3(LAMP2):c.253G>A (p.Gly85Ser)
|
rs371149731
|
0.00001
|
|
NM_002294.3(LAMP2):c.373A>G (p.Thr125Ala)
|
rs748494547
|
0.00001
|
|
NM_002294.3(LAMP2):c.376T>C (p.Phe126Leu)
|
rs1921041200
|
0.00001
|
|
NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys)
|
rs104894857
|
0.00001
|
|
NM_002294.3(LAMP2):c.556+14A>G
|
rs1180149958
|
0.00001
|
|
NM_002294.3(LAMP2):c.566G>A (p.Cys189Tyr)
|
rs750457485
|
0.00001
|
|
NM_002294.3(LAMP2):c.572A>T (p.Lys191Ile)
|
rs767918596
|
0.00001
|
|
NM_002294.3(LAMP2):c.605A>C (p.His202Pro)
|
rs730880475
|
0.00001
|
|
NM_002294.3(LAMP2):c.611C>T (p.Thr204Ile)
|
rs1459886510
|
0.00001
|
|
NM_002294.3(LAMP2):c.697C>G (p.Leu233Val)
|
rs772577020
|
0.00001
|
|
NM_002294.3(LAMP2):c.709A>G (p.Met237Val)
|
rs746678211
|
0.00001
|
|
NM_002294.3(LAMP2):c.773C>T (p.Thr258Ile)
|
rs111703410
|
0.00001
|
|
NM_002294.3(LAMP2):c.805A>G (p.Thr269Ala)
|
rs1131691290
|
0.00001
|
|
NM_002294.3(LAMP2):c.958T>A (p.Tyr320Asn)
|
rs1271107737
|
0.00001
|
|
NM_002294.3(LAMP2):c.980G>T (p.Ser327Ile)
|
rs960241982
|
0.00001
|
|
NM_002637.4(PHKA1):c.1136G>A (p.Arg379Lys)
|
rs782491605
|
0.00001
|
|
NM_002637.4(PHKA1):c.1214C>T (p.Ser405Phe)
|
rs199582889
|
0.00001
|
|
NM_002637.4(PHKA1):c.1318G>A (p.Val440Ile)
|
rs782651487
|
0.00001
|
|
NM_002637.4(PHKA1):c.1348G>A (p.Glu450Lys)
|
rs782310573
|
0.00001
|
|
NM_002637.4(PHKA1):c.1384G>A (p.Val462Met)
|
rs782400389
|
0.00001
|
|
NM_002637.4(PHKA1):c.1459+4A>G
|
rs1203297354
|
0.00001
|
|
NM_002637.4(PHKA1):c.2404C>T (p.Arg802Trp)
|
rs782789642
|
0.00001
|
|
NM_002637.4(PHKA1):c.2912G>A (p.Arg971Gln)
|
rs782702439
|
0.00001
|
|
NM_002637.4(PHKA1):c.3034-6T>A
|
rs199530028
|
0.00001
|
|
NM_002637.4(PHKA1):c.3043C>T (p.Arg1015Cys)
|
rs782191011
|
0.00001
|
|
NM_002637.4(PHKA1):c.3170G>A (p.Arg1057Gln)
|
rs184743934
|
0.00001
|
|
NM_002637.4(PHKA1):c.3250G>A (p.Gly1084Arg)
|
rs1181595611
|
0.00001
|
|
NM_002637.4(PHKA1):c.3331G>A (p.Val1111Met)
|
rs782099054
|
0.00001
|
|
NM_002637.4(PHKA1):c.3550A>G (p.Ile1184Val)
|
rs1162142066
|
0.00001
|
|
NM_002637.4(PHKA1):c.3626C>T (p.Thr1209Ile)
|
rs782528795
|
0.00001
|
|
NM_002637.4(PHKA1):c.44C>G (p.Ala15Gly)
|
rs782659023
|
0.00001
|
|
NM_002863.5(PYGL):c.1396A>G (p.Thr466Ala)
|
rs2050436450
|
0.00001
|
|
NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser)
|
rs138888959
|
0.00001
|
|
NM_002863.5(PYGL):c.1463C>G (p.Thr488Ser)
|
rs202149628
|
0.00001
|
|
NM_002863.5(PYGL):c.1748A>G (p.His583Arg)
|
rs375136222
|
0.00001
|
|
NM_002863.5(PYGL):c.2182G>A (p.Glu728Lys)
|
rs535447490
|
0.00001
|
|
NM_002863.5(PYGL):c.275T>C (p.Met92Thr)
|
rs767745350
|
0.00001
|
|
NM_002863.5(PYGL):c.298A>G (p.Met100Val)
|
rs1273055538
|
0.00001
|
|
NM_002863.5(PYGL):c.401A>G (p.Asn134Ser)
|
rs780574052
|
0.00001
|
|
NM_002863.5(PYGL):c.481C>T (p.Arg161Trp)
|
rs749811385
|
0.00001
|
|
NM_002863.5(PYGL):c.809G>A (p.Arg270Gln)
|
rs755488866
|
0.00001
|
|
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln)
|
rs145241983
|
0.00001
|
|
NM_003384.3(VRK1):c.1159+5G>C
|
rs372052354
|
0.00001
|
|
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys)
|
rs149083861
|
0.00001
|
|
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys)
|
rs766501031
|
0.00001
|
|
NM_003384.3(VRK1):c.1175A>G (p.Lys392Arg)
|
rs759541730
|
0.00001
|
|
NM_003384.3(VRK1):c.127A>G (p.Ile43Val)
|
rs777420974
|
0.00001
|
|
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg)
|
rs1372198425
|
0.00001
|
|
NM_003384.3(VRK1):c.151A>G (p.Ile51Val)
|
rs1237038231
|
0.00001
|
|
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu)
|
rs1474265077
|
0.00001
|
|
NM_003384.3(VRK1):c.203G>A (p.Cys68Tyr)
|
rs768889718
|
0.00001
|
|
NM_003384.3(VRK1):c.302G>A (p.Arg101His)
|
rs372646027
|
0.00001
|
|
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg)
|
rs1064796973
|
0.00001
|
|
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)
|
rs387906830
|
0.00001
|
|
NM_003384.3(VRK1):c.398G>A (p.Arg133His)
|
rs758978677
|
0.00001
|
|
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys)
|
rs201936978
|
0.00001
|
|
NM_003384.3(VRK1):c.533T>C (p.Ile178Thr)
|
rs1888016669
|
0.00001
|
|
NM_003384.3(VRK1):c.550C>T (p.Leu184Phe)
|
rs1452833653
|
0.00001
|
|
NM_003384.3(VRK1):c.583T>G (p.Leu195Val)
|
rs779770049
|
0.00001
|
|
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp)
|
rs144600646
|
0.00001
|
|
NM_003384.3(VRK1):c.704G>A (p.Gly235Asp)
|
rs1311364931
|
0.00001
|
|
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys)
|
rs141703130
|
0.00001
|
|
NM_003384.3(VRK1):c.733G>C (p.Glu245Gln)
|
rs1200170208
|
0.00001
|
|
NM_003384.3(VRK1):c.772C>T (p.His258Tyr)
|
rs761905254
|
0.00001
|
|
NM_003384.3(VRK1):c.7C>T (p.Arg3Cys)
|
rs747692654
|
0.00001
|
|
NM_003384.3(VRK1):c.82A>G (p.Ile28Val)
|
rs1210199221
|
0.00001
|
|
NM_003384.3(VRK1):c.860A>G (p.Asp287Gly)
|
rs1449338678
|
0.00001
|
|
NM_003384.3(VRK1):c.863A>G (p.Lys288Arg)
|
rs1310616396
|
0.00001
|
|
NM_003384.3(VRK1):c.884A>G (p.Lys295Arg)
|
rs1340163417
|
0.00001
|
|
NM_003384.3(VRK1):c.889+4G>C
|
rs761286112
|
0.00001
|
|
NM_004130.4(GYG1):c.1040C>A (p.Thr347Asn)
|
rs533834445
|
0.00001
|
|
NM_004130.4(GYG1):c.109G>A (p.Val37Met)
|
rs913039791
|
0.00001
|
|
NM_004130.4(GYG1):c.124C>A (p.Gln42Lys)
|
rs1330476252
|
0.00001
|
|
NM_004130.4(GYG1):c.171A>T (p.Glu57Asp)
|
rs1477619940
|
0.00001
|
|
NM_004130.4(GYG1):c.206C>G (p.Ser69Cys)
|
rs1483682431
|
0.00001
|
|
NM_004130.4(GYG1):c.220T>G (p.Leu74Val)
|
rs1398931853
|
0.00001
|
|
NM_004130.4(GYG1):c.2T>A (p.Met1Lys)
|
rs1176650262
|
0.00001
|
|
NM_004130.4(GYG1):c.403G>A (p.Gly135Arg)
|
rs566956486
|
0.00001
|
|
NM_004130.4(GYG1):c.55G>T (p.Ala19Ser)
|
rs148954947
|
0.00001
|
|
NM_004130.4(GYG1):c.609-19A>G
|
rs748162789
|
0.00001
|
|
NM_004130.4(GYG1):c.61G>A (p.Val21Ile)
|
rs1372925900
|
0.00001
|
|
NM_004130.4(GYG1):c.66G>A (p.Leu22=)
|
rs1234846583
|
0.00001
|
|
NM_004130.4(GYG1):c.809C>T (p.Thr270Ile)
|
rs1198924627
|
0.00001
|
|
NM_004130.4(GYG1):c.818A>T (p.Tyr273Phe)
|
rs1211466583
|
0.00001
|
|
NM_004130.4(GYG1):c.828+5G>A
|
rs200878347
|
0.00001
|
|
NM_004130.4(GYG1):c.872G>T (p.Cys291Phe)
|
rs75284499
|
0.00001
|
|
NM_004130.4(GYG1):c.878A>G (p.Lys293Arg)
|
rs975170441
|
0.00001
|
|
NM_004130.4(GYG1):c.926C>T (p.Pro309Leu)
|
rs1014772125
|
0.00001
|
|
NM_005271.5(GLUD1):c.1181C>T (p.Pro394Leu)
|
rs777564388
|
0.00001
|
|
NM_005271.5(GLUD1):c.136G>A (p.Ala46Thr)
|
rs780956934
|
0.00001
|
|
NM_005271.5(GLUD1):c.646+3A>G
|
rs1846331910
|
0.00001
|
|
NM_005327.7(HADH):c.126T>G (p.Ile42Met)
|
rs1264862903
|
0.00001
|
|
NM_005327.7(HADH):c.266G>A (p.Gly89Asp)
|
rs1292646768
|
0.00001
|
|
NM_005327.7(HADH):c.280G>C (p.Glu94Gln)
|
rs1274785101
|
0.00001
|
|
NM_005327.7(HADH):c.283A>G (p.Lys95Glu)
|
rs536173298
|
0.00001
|
|
NM_005327.7(HADH):c.449C>T (p.Ser150Phe)
|
rs1735809175
|
0.00001
|
|
NM_005327.7(HADH):c.494G>A (p.Arg165Gln)
|
rs768880930
|
0.00001
|
|
NM_005327.7(HADH):c.707G>A (p.Arg236Gln)
|
rs748945961
|
0.00001
|
|
NM_005327.7(HADH):c.761A>G (p.Tyr254Cys)
|
rs771071992
|
0.00001
|
|
NM_005566.4(LDHA):c.163G>A (p.Glu55Lys)
|
rs144856598
|
0.00001
|
|
NM_005566.4(LDHA):c.833A>C (p.Lys278Thr)
|
rs1244071770
|
0.00001
|
|
NM_005566.4(LDHA):c.944G>A (p.Arg315His)
|
rs140090654
|
0.00001
|
|
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)
|
rs1394188143
|
0.00001
|
|
NM_005609.4(PYGM):c.1196G>A (p.Arg399Gln)
|
rs548646628
|
0.00001
|
|
NM_005609.4(PYGM):c.1280G>A (p.Arg427Gln)
|
rs756303162
|
0.00001
|
|
NM_005609.4(PYGM):c.1520G>A (p.Arg507His)
|
rs575153481
|
0.00001
|
|
NM_005609.4(PYGM):c.1540T>G (p.Ser514Ala)
|
rs1287109702
|
0.00001
|
|
NM_005609.4(PYGM):c.1748A>G (p.His583Arg)
|
rs760543538
|
0.00001
|
|
NM_005609.4(PYGM):c.2204G>A (p.Arg735His)
|
rs760277933
|
0.00001
|
|
NM_005609.4(PYGM):c.224A>G (p.Tyr75Cys)
|
rs1449944847
|
0.00001
|
|
NM_005609.4(PYGM):c.2278A>C (p.Lys760Gln)
|
rs754822104
|
0.00001
|
|
NM_005609.4(PYGM):c.2396C>T (p.Thr799Met)
|
rs377401213
|
0.00001
|
|
NM_005609.4(PYGM):c.2437T>C (p.Ser813Pro)
|
rs1213033233
|
0.00001
|
|
NM_005609.4(PYGM):c.2465C>A (p.Ala822Asp)
|
rs747567834
|
0.00001
|
|
NM_005609.4(PYGM):c.2494C>T (p.Arg832Cys)
|
rs757670205
|
0.00001
|
|
NM_005609.4(PYGM):c.338C>T (p.Thr113Ile)
|
rs147571836
|
0.00001
|
|
NM_005609.4(PYGM):c.463G>A (p.Ala155Thr)
|
rs753687960
|
0.00001
|
|
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn)
|
rs551666681
|
0.00001
|
|
NM_005609.4(PYGM):c.553C>T (p.Arg185Cys)
|
rs749507354
|
0.00001
|
|
NM_005609.4(PYGM):c.618T>A (p.His206Gln)
|
rs371343340
|
0.00001
|
|
NM_005609.4(PYGM):c.704G>A (p.Arg235His)
|
rs371247639
|
0.00001
|
|
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys)
|
rs779706675
|
0.00001
|
|
NM_005609.4(PYGM):c.8G>A (p.Arg3Gln)
|
rs374812974
|
0.00001
|
|
NM_005609.4(PYGM):c.928C>T (p.Arg310Cys)
|
rs778061067
|
0.00001
|
|
NM_005609.4(PYGM):c.98A>G (p.Asn33Ser)
|
rs886048463
|
0.00001
|
|
NM_005908.4(MANBA):c.1057A>G (p.Lys353Glu)
|
rs779705524
|
0.00001
|
|
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val)
|
rs199966543
|
0.00001
|
|
NM_005908.4(MANBA):c.1113-3C>T
|
rs919183854
|
0.00001
|
|
NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp)
|
rs369478532
|
0.00001
|
|
NM_005908.4(MANBA):c.1300G>A (p.Ala434Thr)
|
rs753441236
|
0.00001
|
|
NM_005908.4(MANBA):c.1403A>G (p.His468Arg)
|
rs776769550
|
0.00001
|
|
NM_005908.4(MANBA):c.1421G>A (p.Arg474Gln)
|
rs779506935
|
0.00001
|
|
NM_005908.4(MANBA):c.1610T>A (p.Ile537Asn)
|
rs558710124
|
0.00001
|
|
NM_005908.4(MANBA):c.177+4T>C
|
rs755493385
|
0.00001
|
|
NM_005908.4(MANBA):c.1865C>T (p.Thr622Ile)
|
rs201866934
|
0.00001
|
|
NM_005908.4(MANBA):c.1927G>A (p.Glu643Lys)
|
rs1167564128
|
0.00001
|
|
NM_005908.4(MANBA):c.1952C>T (p.Thr651Met)
|
rs774565122
|
0.00001
|
|
NM_005908.4(MANBA):c.2207C>T (p.Thr736Ile)
|
rs202100945
|
0.00001
|
|
NM_005908.4(MANBA):c.2470G>A (p.Val824Ile)
|
rs1246857426
|
0.00001
|
|
NM_005908.4(MANBA):c.2542G>A (p.Glu848Lys)
|
rs536554772
|
0.00001
|
|
NM_005908.4(MANBA):c.2632A>G (p.Ile878Val)
|
rs1409396131
|
0.00001
|
|
NM_005908.4(MANBA):c.469G>C (p.Ala157Pro)
|
rs768261895
|
0.00001
|
|
NM_005908.4(MANBA):c.50C>T (p.Thr17Ile)
|
rs765795629
|
0.00001
|
|
NM_005908.4(MANBA):c.617G>A (p.Arg206Lys)
|
rs756414140
|
0.00001
|
|
NM_005908.4(MANBA):c.649T>C (p.Tyr217His)
|
rs757677635
|
0.00001
|
|
NM_005908.4(MANBA):c.700G>A (p.Glu234Lys)
|
rs762976551
|
0.00001
|
|
NM_005908.4(MANBA):c.847A>C (p.Lys283Gln)
|
rs777309946
|
0.00001
|
|
NM_005908.4(MANBA):c.935G>C (p.Gly312Ala)
|
rs1483686622
|
0.00001
|
|
NM_006765.4(TUSC3):c.187C>T (p.Arg63Cys)
|
rs751785405
|
0.00001
|
|
NM_006765.4(TUSC3):c.309-3C>G
|
rs776386983
|
0.00001
|
|
NM_006765.4(TUSC3):c.31A>G (p.Arg11Gly)
|
rs778667759
|
0.00001
|
|
NM_006765.4(TUSC3):c.67G>A (p.Gly23Arg)
|
rs1454870259
|
0.00001
|
|
NM_006859.4(LIAS):c.1012C>T (p.Leu338Phe)
|
rs771693497
|
0.00001
|
|
NM_006859.4(LIAS):c.1048C>T (p.Arg350Cys)
|
rs760106768
|
0.00001
|
|
NM_006859.4(LIAS):c.1049G>A (p.Arg350His)
|
rs779790258
|
0.00001
|
|
NM_006859.4(LIAS):c.10C>T (p.Arg4Cys)
|
rs1299862454
|
0.00001
|
|
NM_006859.4(LIAS):c.140A>G (p.Asp47Gly)
|
rs1184621128
|
0.00001
|
|
NM_006859.4(LIAS):c.14G>C (p.Cys5Ser)
|
rs1250162017
|
0.00001
|
|
NM_006859.4(LIAS):c.19G>A (p.Asp7Asn)
|
rs761633225
|
0.00001
|
|
NM_006859.4(LIAS):c.218G>C (p.Arg73Thr)
|
rs1172950083
|
0.00001
|
|
NM_006859.4(LIAS):c.23C>T (p.Ala8Val)
|
rs1467308371
|
0.00001
|
|
NM_006859.4(LIAS):c.25G>T (p.Ala9Ser)
|
rs999105881
|
0.00001
|
|
NM_006859.4(LIAS):c.266A>T (p.Asn89Ile)
|
rs1230898917
|
0.00001
|
|
NM_006859.4(LIAS):c.29G>A (p.Arg10His)
|
rs1370681479
|
0.00001
|
|
NM_006859.4(LIAS):c.329G>A (p.Arg110Gln)
|
rs773238728
|
0.00001
|
|
NM_006859.4(LIAS):c.348G>C (p.Glu116Asp)
|
rs753615027
|
0.00001
|
|
NM_006859.4(LIAS):c.354G>C (p.Trp118Cys)
|
rs754927642
|
0.00001
|
|
NM_006859.4(LIAS):c.361G>A (p.Gly121Arg)
|
rs778779575
|
0.00001
|
|
NM_006859.4(LIAS):c.37G>A (p.Gly13Arg)
|
rs1320749254
|
0.00001
|
|
NM_006859.4(LIAS):c.38G>A (p.Gly13Glu)
|
rs1187910864
|
0.00001
|
|
NM_006859.4(LIAS):c.425G>A (p.Arg142Lys)
|
rs760870251
|
0.00001
|
|
NM_006859.4(LIAS):c.446C>G (p.Ala149Gly)
|
rs977337132
|
0.00001
|
|
NM_006859.4(LIAS):c.44G>A (p.Arg15Gln)
|
rs184218786
|
0.00001
|
|
NM_006859.4(LIAS):c.488C>T (p.Thr163Ile)
|
rs1485721291
|
0.00001
|
|
NM_006859.4(LIAS):c.542A>T (p.Asp181Val)
|
rs1553934355
|
0.00001
|
|
NM_006859.4(LIAS):c.563G>C (p.Gly188Ala)
|
rs1210720598
|
0.00001
|
|
NM_006859.4(LIAS):c.589G>A (p.Val197Ile)
|
rs143321910
|
0.00001
|
|
NM_006859.4(LIAS):c.620T>G (p.Ile207Ser)
|
rs1196873747
|
0.00001
|
|
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu)
|
rs869312808
|
0.00001
|
|
NM_006859.4(LIAS):c.650G>A (p.Arg217Gln)
|
rs570807277
|
0.00001
|
|
NM_006859.4(LIAS):c.66C>G (p.Cys22Trp)
|
rs529501318
|
0.00001
|
|
NM_006859.4(LIAS):c.706C>T (p.His236Tyr)
|
rs1426782379
|
0.00001
|
|
NM_006859.4(LIAS):c.746G>A (p.Arg249His)
|
rs144133667
|
0.00001
|
|
NM_006859.4(LIAS):c.754C>T (p.Arg252Trp)
|
rs775053206
|
0.00001
|
|
NM_006859.4(LIAS):c.769C>G (p.Gln257Glu)
|
rs1427248293
|
0.00001
|
|
NM_006859.4(LIAS):c.850G>A (p.Glu284Lys)
|
rs796052699
|
0.00001
|
|
NM_006859.4(LIAS):c.872C>T (p.Ala291Val)
|
rs769256159
|
0.00001
|
|
NM_006859.4(LIAS):c.883G>A (p.Ala295Thr)
|
rs774997711
|
0.00001
|
|
NM_006859.4(LIAS):c.884C>T (p.Ala295Val)
|
rs1028624548
|
0.00001
|
|
NM_006859.4(LIAS):c.89C>T (p.Ser30Phe)
|
rs796052701
|
0.00001
|
|
NM_006859.4(LIAS):c.905A>G (p.Asp302Gly)
|
rs1206469888
|
0.00001
|
|
NM_006859.4(LIAS):c.930G>A (p.Met310Ile)
|
rs796052700
|
0.00001
|
|
NM_006859.4(LIAS):c.954+2dup
|
rs1744972353
|
0.00001
|
|
NM_006859.4(LIAS):c.988T>C (p.Tyr330His)
|
rs1481336454
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1021T>C (p.Cys341Arg)
|
rs142972941
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1138G>A (p.Val380Ile)
|
rs201724072
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1154T>C (p.Ile385Thr)
|
rs758772703
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1160G>C (p.Cys387Ser)
|
rs373162864
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1261T>A (p.Tyr421Asn)
|
rs775750187
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu)
|
rs1214170788
|
0.00001
|
|
NM_012434.5(SLC17A5):c.137C>G (p.Ala46Gly)
|
rs371810705
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1387G>A (p.Ala463Thr)
|
rs367852327
|
0.00001
|
|
NM_012434.5(SLC17A5):c.146G>T (p.Gly49Val)
|
rs754877029
|
0.00001
|
|
NM_012434.5(SLC17A5):c.338G>A (p.Gly113Asp)
|
rs750771008
|
0.00001
|
|
NM_012434.5(SLC17A5):c.542C>G (p.Ala181Gly)
|
rs1303660578
|
0.00001
|
|
NM_012434.5(SLC17A5):c.660T>G (p.Ile220Met)
|
rs201408081
|
0.00001
|
|
NM_012434.5(SLC17A5):c.724C>A (p.Leu242Ile)
|
rs757218186
|
0.00001
|
|
NM_012434.5(SLC17A5):c.762A>C (p.Lys254Asn)
|
rs767502652
|
0.00001
|
|
NM_012434.5(SLC17A5):c.95-13A>G
|
rs1181668892
|
0.00001
|
|
NM_016042.4(EXOSC3):c.557G>A (p.Arg186Gln)
|
rs748839685
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1003A>G (p.Met335Val)
|
rs769428744
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1052-6A>G
|
rs772764664
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1112T>A (p.Phe371Tyr)
|
rs769892556
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1172T>C (p.Ile391Thr)
|
rs1425296851
|
0.00001
|
|
NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln)
|
rs139653890
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys)
|
rs758756757
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1255G>A (p.Ala419Thr)
|
rs373919593
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met)
|
rs760879406
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val)
|
rs370257703
|
0.00001
|
|
NM_016203.4(PRKAG2):c.131C>T (p.Ala44Val)
|
rs730880984
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn)
|
rs199863116
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1361A>G (p.Glu454Gly)
|
rs940818676
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln)
|
rs730880980
|
0.00001
|
|
NM_016203.4(PRKAG2):c.137C>T (p.Pro46Leu)
|
rs373477232
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn)
|
rs397517264
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1438-3C>A
|
rs773864390
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)
|
rs186114650
|
0.00001
|
|
NM_016203.4(PRKAG2):c.148G>A (p.Gly50Arg)
|
rs1430071393
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1502G>A (p.Arg501His)
|
rs144077131
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg)
|
rs727504337
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1529A>G (p.Lys510Arg)
|
rs370899599
|
0.00001
|
|
NM_016203.4(PRKAG2):c.161G>A (p.Gly54Asp)
|
rs878855019
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1655A>G (p.Gln552Arg)
|
rs1335765564
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)
|
rs397517267
|
0.00001
|
|
NM_016203.4(PRKAG2):c.186G>T (p.Lys62Asn)
|
rs369687307
|
0.00001
|
|
NM_016203.4(PRKAG2):c.187-3C>T
|
rs972389122
|
0.00001
|
|
NM_016203.4(PRKAG2):c.262C>A (p.Pro88Thr)
|
rs1300640443
|
0.00001
|
|
NM_016203.4(PRKAG2):c.275C>A (p.Pro92His)
|
rs375398155
|
0.00001
|
|
NM_016203.4(PRKAG2):c.292A>G (p.Ser98Gly)
|
rs1243030792
|
0.00001
|
|
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu)
|
rs1041124171
|
0.00001
|
|
NM_016203.4(PRKAG2):c.320C>T (p.Pro107Leu)
|
rs730880985
|
0.00001
|
|
NM_016203.4(PRKAG2):c.355C>T (p.Arg119Ter)
|
rs1177945294
|
0.00001
|
|
NM_016203.4(PRKAG2):c.359G>T (p.Arg120Leu)
|
rs775756069
|
0.00001
|
|
NM_016203.4(PRKAG2):c.376A>G (p.Ile126Val)
|
rs1379819489
|
0.00001
|
|
NM_016203.4(PRKAG2):c.382C>T (p.Arg128Cys)
|
rs2076651870
|
0.00001
|
|
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg)
|
rs779753891
|
0.00001
|
|
NM_016203.4(PRKAG2):c.40G>C (p.Val14Leu)
|
rs150188173
|
0.00001
|
|
NM_016203.4(PRKAG2):c.418C>T (p.Pro140Ser)
|
rs755782342
|
0.00001
|
|
NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu)
|
rs397517271
|
0.00001
|
|
NM_016203.4(PRKAG2):c.466+2T>G
|
rs962806505
|
0.00001
|
|
NM_016203.4(PRKAG2):c.475C>T (p.Leu159Phe)
|
rs1832795622
|
0.00001
|
|
NM_016203.4(PRKAG2):c.482C>T (p.Ser161Phe)
|
rs748557485
|
0.00001
|
|
NM_016203.4(PRKAG2):c.500C>T (p.Thr167Ile)
|
rs766578540
|
0.00001
|
|
NM_016203.4(PRKAG2):c.515A>C (p.Gln172Pro)
|
rs969117866
|
0.00001
|
|
NM_016203.4(PRKAG2):c.541A>C (p.Lys181Gln)
|
rs765259437
|
0.00001
|
|
NM_016203.4(PRKAG2):c.569G>A (p.Arg190His)
|
rs551795395
|
0.00001
|
|
NM_016203.4(PRKAG2):c.587C>T (p.Ser196Phe)
|
rs267601424
|
0.00001
|
|
NM_016203.4(PRKAG2):c.629A>G (p.Gln210Arg)
|
rs1585679990
|
0.00001
|
|
NM_016203.4(PRKAG2):c.64G>A (p.Gly22Ser)
|
rs1057524523
|
0.00001
|
|
NM_016203.4(PRKAG2):c.659C>T (p.Pro220Leu)
|
rs200181419
|
0.00001
|
|
NM_016203.4(PRKAG2):c.679A>G (p.Lys227Glu)
|
rs766460601
|
0.00001
|
|
NM_016203.4(PRKAG2):c.684C>T (p.Ala228=)
|
rs151108625
|
0.00001
|
|
NM_016203.4(PRKAG2):c.685-1G>A
|
rs1824685527
|
0.00001
|
|
NM_016203.4(PRKAG2):c.685-3C>T
|
rs1057520353
|
0.00001
|
|
NM_016203.4(PRKAG2):c.691C>G (p.Leu231Val)
|
rs745772277
|
0.00001
|
|
NM_016203.4(PRKAG2):c.739G>C (p.Glu247Gln)
|
rs397517281
|
0.00001
|
|
NM_016203.4(PRKAG2):c.755-1G>A
|
rs778614872
|
0.00001
|
|
NM_016203.4(PRKAG2):c.979C>G (p.Leu327Val)
|
rs730880988
|
0.00001
|
|
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala)
|
rs775005432
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1001G>A (p.Arg334His)
|
rs1476136894
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys)
|
rs387906885
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1428C>T (p.Gly476=)
|
rs751469511
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1565T>C (p.Met522Thr)
|
rs764475116
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1687A>G (p.Met563Val)
|
rs770987752
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1897G>T (p.Val633Phe)
|
rs777270726
|
0.00001
|
|
NM_016219.5(MAN1B1):c.2083A>G (p.Ile695Val)
|
rs963979748
|
0.00001
|
|
NM_016219.5(MAN1B1):c.431C>T (p.Thr144Ile)
|
rs763744643
|
0.00001
|
|
NM_016219.5(MAN1B1):c.466-12A>G
|
rs760066464
|
0.00001
|
|
NM_016219.5(MAN1B1):c.561A>C (p.Lys187Asn)
|
rs534967836
|
0.00001
|
|
NM_016219.5(MAN1B1):c.7G>T (p.Ala3Ser)
|
rs573766677
|
0.00001
|
|
NM_016219.5(MAN1B1):c.905G>A (p.Gly302Asp)
|
rs777884272
|
0.00001
|
|
NM_021957.4(GYS2):c.1111A>G (p.Lys371Glu)
|
rs1489497076
|
0.00001
|
|
NM_021957.4(GYS2):c.1229+6T>C
|
rs775446055
|
0.00001
|
|
NM_021957.4(GYS2):c.1334C>T (p.Thr445Met)
|
rs776104371
|
0.00001
|
|
NM_021957.4(GYS2):c.1405C>T (p.Arg469Cys)
|
rs765248902
|
0.00001
|
|
NM_021957.4(GYS2):c.1829A>G (p.His610Arg)
|
rs751455210
|
0.00001
|
|
NM_021957.4(GYS2):c.1974dup (p.Val659fs)
|
rs1181756742
|
0.00001
|
|
NM_021957.4(GYS2):c.257A>G (p.Asp86Gly)
|
rs1944495395
|
0.00001
|
|
NM_021957.4(GYS2):c.427C>T (p.Pro143Ser)
|
rs376712209
|
0.00001
|
|
NM_021957.4(GYS2):c.653T>C (p.Ile218Thr)
|
rs1169286490
|
0.00001
|
|
NM_024989.4(PGAP1):c.100G>A (p.Glu34Lys)
|
rs752507663
|
0.00001
|
|
NM_024989.4(PGAP1):c.1274A>G (p.Tyr425Cys)
|
rs1291611574
|
0.00001
|
|
NM_024989.4(PGAP1):c.2276A>G (p.Tyr759Cys)
|
rs776817075
|
0.00001
|
|
NM_024989.4(PGAP1):c.2525+5G>A
|
rs759133146
|
0.00001
|
|
NM_024989.4(PGAP1):c.2551C>T (p.Pro851Ser)
|
rs765007097
|
0.00001
|
|
NM_024989.4(PGAP1):c.2643G>C (p.Lys881Asn)
|
rs776985592
|
0.00001
|
|
NM_024989.4(PGAP1):c.478-3T>C
|
rs773139555
|
0.00001
|
|
NM_024989.4(PGAP1):c.695A>G (p.His232Arg)
|
rs749729836
|
0.00001
|
|
NM_031229.4(RBCK1):c.1091G>A (p.Arg364His)
|
rs562488006
|
0.00001
|
|
NM_031229.4(RBCK1):c.113G>A (p.Arg38Gln)
|
rs773934109
|
0.00001
|
|
NM_031229.4(RBCK1):c.1209+2_1209+3insA
|
rs774461310
|
0.00001
|
|
NM_031229.4(RBCK1):c.1261C>T (p.Arg421Trp)
|
rs771360977
|
0.00001
|
|
NM_031229.4(RBCK1):c.1264G>A (p.Ala422Thr)
|
rs776994199
|
0.00001
|
|
NM_031229.4(RBCK1):c.1308+3G>A
|
rs757924227
|
0.00001
|
|
NM_031229.4(RBCK1):c.1381G>A (p.Asp461Asn)
|
rs1201022654
|
0.00001
|
|
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys)
|
rs1342598444
|
0.00001
|
|
NM_031229.4(RBCK1):c.1438C>T (p.Arg480Cys)
|
rs1436848446
|
0.00001
|
|
NM_031229.4(RBCK1):c.1452G>A (p.Gly484=)
|
rs780470011
|
0.00001
|
|
NM_031229.4(RBCK1):c.1471G>A (p.Gly491Arg)
|
rs770973545
|
0.00001
|
|
NM_031229.4(RBCK1):c.154A>G (p.Thr52Ala)
|
rs755353013
|
0.00001
|
|
NM_031229.4(RBCK1):c.202A>G (p.Thr68Ala)
|
rs779621384
|
0.00001
|
|
NM_031229.4(RBCK1):c.203C>T (p.Thr68Ile)
|
rs753472058
|
0.00001
|
|
NM_031229.4(RBCK1):c.21A>G (p.Lys7=)
|
rs1288403973
|
0.00001
|
|
NM_031229.4(RBCK1):c.245C>T (p.Ala82Val)
|
rs544518686
|
0.00001
|
|
NM_031229.4(RBCK1):c.300G>C (p.Gln100His)
|
rs752266924
|
0.00001
|
|
NM_031229.4(RBCK1):c.400C>T (p.Arg134Cys)
|
rs146325218
|
0.00001
|
|
NM_031229.4(RBCK1):c.433C>T (p.Arg145Trp)
|
rs751068368
|
0.00001
|
|
NM_031229.4(RBCK1):c.449G>A (p.Arg150Gln)
|
rs748158080
|
0.00001
|
|
NM_031229.4(RBCK1):c.542C>A (p.Pro181His)
|
rs952034182
|
0.00001
|
|
NM_031229.4(RBCK1):c.581C>T (p.Pro194Leu)
|
rs1165538930
|
0.00001
|
|
NM_031229.4(RBCK1):c.653G>A (p.Arg218Gln)
|
rs764357407
|
0.00001
|
|
NM_031229.4(RBCK1):c.666G>C (p.Glu222Asp)
|
rs754967314
|
0.00001
|
|
NM_031229.4(RBCK1):c.682G>A (p.Ala228Thr)
|
rs752666659
|
0.00001
|
|
NM_031229.4(RBCK1):c.709C>G (p.Arg237Gly)
|
rs762315366
|
0.00001
|
|
NM_031229.4(RBCK1):c.710G>C (p.Arg237Pro)
|
rs770302308
|
0.00001
|
|
NM_031229.4(RBCK1):c.71A>C (p.Glu24Ala)
|
rs773247812
|
0.00001
|
|
NM_031229.4(RBCK1):c.743G>A (p.Arg248His)
|
rs1385885540
|
0.00001
|
|
NM_031229.4(RBCK1):c.800A>G (p.Gln267Arg)
|
rs1055669487
|
0.00001
|
|
NM_031229.4(RBCK1):c.82A>G (p.Met28Val)
|
rs909682858
|
0.00001
|
|
NM_031229.4(RBCK1):c.838G>A (p.Ala280Thr)
|
rs367600993
|
0.00001
|
|
NM_031229.4(RBCK1):c.916A>C (p.Arg306=)
|
rs1438078445
|
0.00001
|
|
NM_033159.4(HYAL1):c.1112G>A (p.Arg371His)
|
rs587595632
|
0.00001
|
|
NM_033159.4(HYAL1):c.1280C>T (p.Pro427Leu)
|
rs782298295
|
0.00001
|
|
NM_033159.4(HYAL1):c.1291C>T (p.Arg431Trp)
|
rs782616691
|
0.00001
|
|
NM_033159.4(HYAL1):c.200G>A (p.Arg67His)
|
rs782491043
|
0.00001
|
|
NM_033159.4(HYAL1):c.28G>A (p.Ala10Thr)
|
rs782713825
|
0.00001
|
|
NM_033159.4(HYAL1):c.355G>T (p.Ala119Ser)
|
rs587647302
|
0.00001
|
|
NM_033159.4(HYAL1):c.463G>T (p.Val155Leu)
|
rs1473371417
|
0.00001
|
|
NM_033159.4(HYAL1):c.539G>A (p.Arg180Gln)
|
rs782751421
|
0.00001
|
|
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys)
|
rs104893743
|
0.00001
|
|
NM_033159.4(HYAL1):c.952G>A (p.Val318Met)
|
rs1553712745
|
0.00001
|
|
NM_053013.4(ENO3):c.1046C>T (p.Ser349Leu)
|
rs777965106
|
0.00001
|
|
NM_053013.4(ENO3):c.1180A>C (p.Lys394Gln)
|
rs1322216100
|
0.00001
|
|
NM_053013.4(ENO3):c.1198C>T (p.Arg400Cys)
|
rs534374372
|
0.00001
|
|
NM_053013.4(ENO3):c.159C>A (p.Asp53Glu)
|
rs746259097
|
0.00001
|
|
NM_053013.4(ENO3):c.182G>A (p.Gly61Glu)
|
rs1971599259
|
0.00001
|
|
NM_053013.4(ENO3):c.340G>A (p.Val114Met)
|
rs761323443
|
0.00001
|
|
NM_053013.4(ENO3):c.403G>A (p.Ala135Thr)
|
rs747456400
|
0.00001
|
|
NM_053013.4(ENO3):c.493A>G (p.Met165Val)
|
rs781694580
|
0.00001
|
|
NM_053013.4(ENO3):c.559G>A (p.Glu187Lys)
|
rs772218199
|
0.00001
|
|
NM_053013.4(ENO3):c.716A>G (p.Lys239Arg)
|
rs764872268
|
0.00001
|
|
NM_053013.4(ENO3):c.724A>T (p.Ile242Phe)
|
rs1368067716
|
0.00001
|
|
NM_053013.4(ENO3):c.736G>A (p.Val246Met)
|
rs756256626
|
0.00001
|
|
NM_053013.4(ENO3):c.79G>A (p.Ala27Thr)
|
rs766310955
|
0.00001
|
|
NM_053013.4(ENO3):c.866T>C (p.Val289Ala)
|
rs780704553
|
0.00001
|
|
NM_053013.4(ENO3):c.908C>T (p.Thr303Ile)
|
rs772062073
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1075G>A (p.Val359Ile)
|
rs1200184747
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1099G>A (p.Ala367Thr)
|
rs1476919967
|
0.00001
|
|
NM_152419.3(HGSNAT):c.110C>T (p.Pro37Leu)
|
rs1465935790
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=)
|
rs770462636
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1160C>T (p.Thr387Met)
|
rs370653879
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1218G>T (p.Leu406Phe)
|
rs1425393733
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1220C>T (p.Thr407Ile)
|
rs1410211396
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1231C>A (p.Pro411Thr)
|
rs1804531287
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser)
|
rs538620581
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1313C>T (p.Ala438Val)
|
rs1016164503
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1474A>G (p.Ile492Val)
|
rs766052009
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1492G>C (p.Ala498Pro)
|
rs1433404175
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1535G>C (p.Cys512Ser)
|
rs762252722
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met)
|
rs561701894
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1591A>C (p.Ile531Leu)
|
rs1804772048
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1768G>A (p.Glu590Lys)
|
rs1163166400
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1850C>T (p.Ala617Val)
|
rs776791119
|
0.00001
|
|
NM_152419.3(HGSNAT):c.185T>C (p.Leu62Pro)
|
rs1304780108
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1865T>C (p.Ile622Thr)
|
rs1240119393
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1871A>G (p.Tyr624Cys)
|
rs773631016
|
0.00001
|
|
NM_152419.3(HGSNAT):c.234C>T (p.His78=)
|
rs760790643
|
0.00001
|
|
NM_152419.3(HGSNAT):c.322G>A (p.Gly108Arg)
|
rs1427202401
|
0.00001
|
|
NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr)
|
rs768887468
|
0.00001
|
|
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro)
|
rs765211666
|
0.00001
|
|
NM_152419.3(HGSNAT):c.444A>C (p.Glu148Asp)
|
rs1399122628
|
0.00001
|
|
NM_152419.3(HGSNAT):c.493+4C>T
|
rs372471081
|
0.00001
|
|
NM_152419.3(HGSNAT):c.493+5G>A
|
rs781408761
|
0.00001
|
|
NM_152419.3(HGSNAT):c.533T>G (p.Ile178Ser)
|
rs752128693
|
0.00001
|
|
NM_152419.3(HGSNAT):c.594A>T (p.Lys198Asn)
|
rs763403091
|
0.00001
|
|
NM_152419.3(HGSNAT):c.619C>T (p.Arg207Cys)
|
rs199861011
|
0.00001
|
|
NM_152419.3(HGSNAT):c.659A>G (p.Asp220Gly)
|
rs1803591916
|
0.00001
|
|
NM_152419.3(HGSNAT):c.664C>T (p.Leu222Phe)
|
rs1358373785
|
0.00001
|
|
NM_152419.3(HGSNAT):c.688A>G (p.Thr230Ala)
|
rs758464800
|
0.00001
|
|
NM_152419.3(HGSNAT):c.695G>A (p.Arg232His)
|
rs371869844
|
0.00001
|
|
NM_152419.3(HGSNAT):c.713C>T (p.Pro238Leu)
|
rs1218261294
|
0.00001
|
|
NM_152419.3(HGSNAT):c.722G>A (p.Arg241His)
|
rs1231838743
|
0.00001
|
|
NM_152419.3(HGSNAT):c.762G>A (p.Met254Ile)
|
rs751701983
|
0.00001
|
|
NM_152419.3(HGSNAT):c.7G>C (p.Gly3Arg)
|
rs1387365931
|
0.00001
|
|
NM_152419.3(HGSNAT):c.838C>T (p.Leu280Phe)
|
rs1245295975
|
0.00001
|
|
NM_152419.3(HGSNAT):c.841G>A (p.Val281Met)
|
rs1287447019
|
0.00001
|
|
NM_152419.3(HGSNAT):c.852G>T (p.Trp284Cys)
|
rs777146364
|
0.00001
|
|
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)
|
rs372933126
|
0.00001
|
|
NM_152419.3(HGSNAT):c.89G>C (p.Gly30Ala)
|
rs1490698793
|
0.00001
|
|
NM_152419.3(HGSNAT):c.940A>G (p.Ile314Val)
|
rs1446334240
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1013C>T (p.Thr338Ile)
|
rs1388505858
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1053G>C (p.Glu351Asp)
|
rs377395116
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1058C>T (p.Pro353Leu)
|
rs1440601226
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp)
|
rs372993582
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1132C>G (p.Leu378Val)
|
rs778364234
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe)
|
rs541460675
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1166T>A (p.Val389Asp)
|
rs562100142
|
0.00001
|
|
NM_198586.3(NHLRC1):c.218G>A (p.Arg73Gln)
|
rs1280991443
|
0.00001
|
|
NM_198586.3(NHLRC1):c.243C>A (p.Ser81Arg)
|
rs1174745955
|
0.00001
|
|
NM_198586.3(NHLRC1):c.307G>T (p.Ala103Ser)
|
rs568131096
|
0.00001
|
|
NM_198586.3(NHLRC1):c.313C>A (p.Arg105Ser)
|
rs909097062
|
0.00001
|
|
NM_198586.3(NHLRC1):c.322C>T (p.Pro108Ser)
|
rs1467326281
|
0.00001
|
|
NM_198586.3(NHLRC1):c.374C>A (p.Thr125Asn)
|
rs1085307861
|
0.00001
|
|
NM_198586.3(NHLRC1):c.389C>A (p.Thr130Asn)
|
rs1294825458
|
0.00001
|
|
NM_198586.3(NHLRC1):c.415G>A (p.Gly139Arg)
|
rs1783749311
|
0.00001
|
|
NM_198586.3(NHLRC1):c.418C>T (p.Arg140Cys)
|
rs148035405
|
0.00001
|
|
NM_198586.3(NHLRC1):c.48G>A (p.Met16Ile)
|
rs1233490914
|
0.00001
|
|
NM_198586.3(NHLRC1):c.49C>A (p.Arg17Ser)
|
rs368134036
|
0.00001
|
|
NM_198586.3(NHLRC1):c.52G>C (p.Glu18Gln)
|
rs771805307
|
0.00001
|
|
NM_198586.3(NHLRC1):c.584A>G (p.Asp195Gly)
|
rs367649330
|
0.00001
|
|
NM_198586.3(NHLRC1):c.599T>C (p.Val200Ala)
|
rs746239356
|
0.00001
|
|
NM_198586.3(NHLRC1):c.5C>A (p.Ala2Glu)
|
rs963295265
|
0.00001
|
|
NM_198586.3(NHLRC1):c.612T>G (p.Phe204Leu)
|
rs201058506
|
0.00001
|
|
NM_198586.3(NHLRC1):c.659G>A (p.Gly220Asp)
|
rs1449381352
|
0.00001
|
|
NM_198586.3(NHLRC1):c.713C>G (p.Ser238Cys)
|
rs747276703
|
0.00001
|
|
NM_198586.3(NHLRC1):c.755G>A (p.Arg252Gln)
|
rs371072212
|
0.00001
|
|
NM_198586.3(NHLRC1):c.773A>G (p.Gln258Arg)
|
rs377025668
|
0.00001
|
|
NM_198586.3(NHLRC1):c.782T>C (p.Leu261Pro)
|
rs879745047
|
0.00001
|
|
NM_198586.3(NHLRC1):c.787A>C (p.Asn263His)
|
rs749287999
|
0.00001
|
|
NM_198586.3(NHLRC1):c.791C>G (p.Pro264Arg)
|
rs796052756
|
0.00001
|
|
NM_198586.3(NHLRC1):c.808T>G (p.Ser270Ala)
|
rs755474952
|
0.00001
|
|
NM_198586.3(NHLRC1):c.821G>T (p.Gly274Val)
|
rs1281512045
|
0.00001
|
|
NM_198586.3(NHLRC1):c.913G>A (p.Gly305Ser)
|
rs752220824
|
0.00001
|
|
NM_198586.3(NHLRC1):c.970G>A (p.Ala324Thr)
|
rs776454075
|
0.00001
|
|
G6PD NARA
|
rs587776730
|
|
|
NC_000001.10:g.(?_100314640)_(100390579_?)dup
|
|
|
|
NC_000001.10:g.(?_100316579)_(100387227_?)dup
|
|
|
|
NC_000001.10:g.(?_100327039)_(100330165_?)del
|
|
|
|
NC_000001.10:g.(?_24172205)_(24172683_?)dup
|
|
|
|
NC_000001.10:g.(?_24172205)_(24194776_?)dup
|
|
|
|
NC_000003.11:g.(?_15643358)_(15643421_?)dup
|
|
|
|
NC_000003.11:g.(?_15643358)_(15687154_?)dup
|
|
|
|
NC_000003.11:g.(?_168802697)_(172835521_?)dup
|
|
|
|
NC_000003.11:g.(?_57130421)_(58520833_?)del
|
|
|
|
NC_000003.11:g.(?_58419338)_(58419536_?)dup
|
|
|
|
NC_000003.11:g.(?_81539558)_(81754784_?)dup
|
|
|
|
NC_000003.11:g.(?_81539558)_(81810668_?)dup
|
|
|
|
NC_000003.11:g.(?_81548251)_(81548388_?)dup
|
|
|
|
NC_000003.11:g.(?_81691912)_(81810668_?)dup
|
|
|
|
NC_000003.12:g.(?_58428014)_(58431813_?)del
|
|
|
|
NC_000003.12:g.33097285A>C
|
|
|
|
NC_000004.11:g.(?_108816710)_(108955513_?)dup
|
|
|
|
NC_000004.11:g.(?_108911069)_(108955533_?)dup
|
|
|
|
NC_000004.11:g.(?_178352862)_(178363529_?)dup
|
|
|
|
NC_000004.11:g.(?_38765721)_(41750627_?)dup
|
|
|
|
NC_000004.11:g.(?_39459814)_(39528725_?)dup
|
|
|
|
NC_000004.11:g.(?_39460510)_(39460802_?)dup
|
|
|
|
NC_000004.11:g.(?_39460718)_(39478755_?)dup
|
|
|
|
NC_000004.11:g.(?_39460738)_(39478735_?)dup
|
|
|
|
NC_000004.11:g.(?_980871)_(981050_?)dup
|
|
|
|
NC_000004.11:g.(?_980871)_(985491_?)dup
|
|
|
|
NC_000004.12:g.(?_102650517)_(102726703_?)del
|
|
|
|
NC_000004.12:g.(?_177431688)_(177442395_?)dup
|
|
|
|
NC_000005.9:g.(?_78135159)_(78281071_?)dup
|
|
|
|
NC_000006.11:g.(?_74189435)_(74363609_?)dup
|
|
|
|
NC_000006.11:g.(?_74304780)_(74363629_?)dup
|
|
|
|
NC_000006.11:g.(?_74304800)_(74310184_?)dup
|
|
|
|
NC_000007.13:g.(?_150642453)_(151573705_?)del
|
|
|
|
NC_000007.13:g.(?_151252200)_(151575316_?)del
|
|
|
|
NC_000007.13:g.(?_151252200)_(151575316_?)dup
|
|
|
|
NC_000007.13:g.(?_151254277)_(151254328_?)del
|
|
|
|
NC_000007.13:g.(?_151262800)_(152373170_?)del
|
|
|
|
NC_000007.13:g.(?_151372486)_(151372743_?)del
|
|
|
|
NC_000007.13:g.(?_151372486)_(151372743_?)dup
|
|
|
|
NC_000007.13:g.(?_151372486)_(151483647_?)dup
|
|
|
|
NC_000007.13:g.(?_151478218)_(151483647_?)del
|
|
|
|
NC_000007.13:g.(?_151478218)_(151573705_?)dup
|
|
|
|
NC_000007.13:g.(?_151478228)_(151573715_?)dup
|
|
|
|
NC_000007.13:g.(?_151573582)_(151573715_?)dup
|
|
|
|
NC_000007.13:g.(?_44102363)_(44105128_?)dup
|
|
|
|
NC_000007.13:g.(?_65425884)_(65447170_?)dup
|
|
|
|
NC_000007.14:g.(?_65960877)_(65982203_?)dup
|
|
|
|
NC_000008.10:g.(?_15397940)_(15615318_?)dup
|
|
|
|
NC_000008.10:g.(?_15588155)_(15615318_?)del
|
|
|
|
NC_000008.10:g.(?_15601027)_(15621747_?)dup
|
|
|
|
NC_000008.10:g.(?_42958672)_(43054732_?)dup
|
|
|
|
NC_000008.10:g.(?_42958692)_(43016670_?)dup
|
|
|
|
NC_000008.10:g.(?_42958692)_(43054712_?)dup
|
|
|
|
NC_000008.10:g.(?_43002091)_(43159912_?)dup
|
|
|
|
NC_000008.10:g.(?_43013698)_(43054712_?)dup
|
|
|
|
NC_000008.10:g.(?_43024296)_(43054712_?)dup
|
|
|
|
NC_000008.10:g.(?_43027433)_(43054712_?)dup
|
|
|
|
NC_000008.10:g.(?_43033197)_(43054712_?)dup
|
|
|
|
NC_000008.10:g.(?_43037268)_(43054712_?)dup
|
|
|
|
NC_000008.10:g.(?_43046597)_(43054712_?)dup
|
|
|
|
NC_000008.10:g.(?_43052071)_(43054712_?)dup
|
|
|
|
NC_000008.11:g.(?_43083118)_(43304769_?)dup
|
|
|
|
NC_000008.11:g.(?_43139449)_(43203827_?)dup
|
|
|
|
NC_000008.11:g.(?_43140487)_(43199579_?)dup
|
|
|
|
NC_000009.11:g.(?_135139626)_(140034216_?)dup
|
|
|
|
NC_000009.11:g.(?_140000557)_(140003043_?)dup
|
|
|
|
NC_000009.11:g.(?_32453279)_(37785041_?)dup
|
|
|
|
NC_000009.11:g.(?_97365663)_(97372363_?)dup
|
|
|
|
NC_000009.11:g.(?_97365663)_(97401592_?)dup
|
|
|
|
NC_000009.12:g.34646581A>C
|
|
|
|
NC_000010.10:g.(?_88811508)_(88822612_?)dup
|
|
|
|
NC_000010.10:g.(?_88854062)_(88854526_?)del
|
|
|
|
NC_000011.9:g.(?_111171709)_(112104278_?)dup
|
|
|
|
NC_000011.9:g.(?_111896177)_(111922093_?)del
|
|
|
|
NC_000011.9:g.(?_111896197)_(111899689_?)del
|
|
|
|
NC_000011.9:g.(?_111896197)_(111922093_?)dup
|
|
|
|
NC_000011.9:g.(?_117856768)_(118972385_?)dup
|
|
|
|
NC_000011.9:g.(?_118895600)_(118972385_?)dup
|
|
|
|
NC_000011.9:g.(?_18301429)_(18428828_?)dup
|
|
|
|
NC_000011.9:g.(?_18420958)_(18428828_?)dup
|
|
|
|
NC_000011.9:g.(?_18428644)_(18428828_?)dup
|
|
|
|
NC_000011.9:g.(?_64520525)_(64523631_?)dup
|
|
|
|
NC_000012.11:g.(?_65110521)_(65153056_?)dup
|
|
|
|
NC_000012.12:g.(?_64747692)_(64747938_?)del
|
|
|
|
NC_000014.8:g.(?_51379727)_(51387805_?)dup
|
|
|
|
NC_000016.9:g.(?_29802081)_(30199917_?)del
|
|
|
|
NC_000016.9:g.(?_29802081)_(30199917_?)dup
|
|
|
|
NC_000016.9:g.(?_30066083)_(30081533_?)dup
|
|
|
|
NC_000016.9:g.(?_46694384)_(48258199_?)dup
|
|
|
|
NC_000016.9:g.(?_47531290)_(47531419_?)dup
|
|
|
|
NC_000016.9:g.(?_47682424)_(47684852_?)del
|
|
|
|
NC_000016.9:g.(?_47682424)_(47684852_?)dup
|
|
|
|
NC_000016.9:g.(?_47722932)_(47733277_?)dup
|
|
|
|
NC_000016.9:g.(?_87960334)_(87960571_?)del
|
|
|
|
NC_000016.9:g.(?_88798723)_(88909257_?)dup
|
|
|
|
NC_000016.9:g.(?_88908285)_(88908399_?)dup
|
|
|
|
NC_000017.10:g.(?_40688291)_(40690793_?)dup
|
|
|
|
NC_000017.10:g.(?_40688291)_(40729741_?)dup
|
|
|
|
NC_000017.10:g.(?_41052894)_(41053143_?)dup
|
|
|
|
NC_000017.10:g.(?_41059520)_(41063443_?)dup
|
|
|
|
NC_000017.10:g.(?_68171181)_(68172464_?)del
|
|
|
|
NC_000017.10:g.(?_68171181)_(68172464_?)dup
|
|
|
|
NC_000017.10:g.(?_78078341)_(78093140_?)dup
|
|
|
|
NC_000017.10:g.(?_78078341)_(78093150_?)dup
|
|
|
|
NC_000017.10:g.(?_78090747)_(78110154_?)dup
|
|
|
|
NC_000017.10:g.(?_78090757)_(78093140_?)dup
|
|
|
|
NC_000017.10:g.(?_78109289)_(78272338_?)dup
|
|
|
|
NC_000017.10:g.(?_78187951)_(78247223_?)dup
|
|
|
|
NC_000017.10:g.(?_78188394)_(78194112_?)dup
|
|
|
|
NC_000019.10:g.(?_48977904)_(48993132_?)dup
|
|
|
|
NC_000019.10:g.(?_48977914)_(48993363_?)dup
|
|
|
|
NC_000019.10:g.(?_48987184)_(48987395_?)del
|
|
|
|
NC_000019.9:g.(?_10828919)_(13482613_?)dup
|
|
|
|
NC_000019.9:g.(?_12772054)_(12777515_?)dup
|
|
|
|
NC_000019.9:g.(?_49472545)_(49486114_?)dup
|
|
|
|
NC_000019.9:g.(?_49472545)_(49496369_?)dup
|
|
|
|
NC_000019.9:g.(?_49481161)_(49489312_?)del
|
|
|
|
NC_000019.9:g.(?_49494539)_(49496369_?)dup
|
|
|
|
NC_000020.10:g.(?_389363)_(411094_?)dup
|
|
|
|
NC_000020.10:g.(?_389402)_(390689_?)dup
|
|
|
|
NC_000020.10:g.(?_401495)_(443049_?)dup
|
|
|
|
NC_000020.11:g.(?_408719)_(765794_?)dup
|
|
|
|
NC_000021.8:g.(?_37133458)_(38311203_?)dup
|
|
|
|
NC_000021.9:g.(?_36930231)_(36930453_?)dup
|
|
|
|
NC_000022.10:g.(?_32439269)_(32464607_?)dup
|
|
|
|
NC_000022.10:g.(?_32439269)_(32506200_?)dup
|
|
|
|
NC_000022.10:g.(?_32477833)_(32506200_?)dup
|
|
|
|
NC_000022.10:g.(?_32500753)_(32894517_?)dup
|
|
|
|
NC_000023.10:g.(?_118986730)_(119603030_?)dup
|
|
|
|
NC_000023.10:g.(?_119565178)_(119565337_?)dup
|
|
|
|
NC_000023.10:g.(?_119565178)_(119581900_?)dup
|
|
|
|
NC_000023.10:g.(?_119602955)_(119603030_?)dup
|
|
|
|
NC_000023.10:g.(?_148564257)_(148586687_?)dup
|
|
|
|
NC_000023.10:g.(?_148564277)_(148564769_?)dup
|
|
|
|
NC_000023.10:g.(?_148564277)_(148586667_?)dup
|
|
|
|
NC_000023.10:g.(?_148579628)_(148579848_?)dup
|
|
|
|
NC_000023.10:g.(?_148582460)_(148586667_?)dup
|
|
|
|
NC_000023.10:g.(?_153640181)_(153775961_?)dup
|
|
|
|
NC_000023.10:g.(?_153760215)_(153764413_?)dup
|
|
|
|
NC_000023.10:g.(?_153760215)_(153775961_?)dup
|
|
|
|
NC_000023.10:g.(?_153762230)_(153775961_?)dup
|
|
|
|
NC_000023.10:g.(?_17393881)_(20284750_?)dup
|
|
|
|
NC_000023.10:g.(?_19368035)_(19377771_?)dup
|
|
|
|
NC_000023.10:g.(?_71854985)_(71933728_?)dup
|
|
|
|
NC_000023.10:g.(?_71875950)_(71925114_?)dup
|
|
|
|
NC_000023.11:g.(?_120431313)_(120469179_?)dup
|
|
|
|
NC_000023.11:g.18905859_18905861del
|
rs2047801126
|
|
|
NM_000027.4(AGA):c.1000G>A (p.Glu334Lys)
|
|
|
|
NM_000027.4(AGA):c.1000G>T (p.Glu334Ter)
|
|
|
|
NM_000027.4(AGA):c.1006A>C (p.Asn336His)
|
rs151105390
|
|
|
NM_000027.4(AGA):c.1007del (p.Asn336fs)
|
|
|
|
NM_000027.4(AGA):c.1007dup (p.Asn336fs)
|
|
|
|
NM_000027.4(AGA):c.104C>T (p.Pro35Leu)
|
|
|
|
NM_000027.4(AGA):c.127+5G>A
|
rs1327701669
|
|
|
NM_000027.4(AGA):c.128C>T (p.Ala43Val)
|
|
|
|
NM_000027.4(AGA):c.14C>T (p.Ser5Leu)
|
|
|
|
NM_000027.4(AGA):c.197G>C (p.Arg66Thr)
|
|
|
|
NM_000027.4(AGA):c.230G>A (p.Gly77Glu)
|
|
|
|
NM_000027.4(AGA):c.238G>C (p.Asp80His)
|
|
|
|
NM_000027.4(AGA):c.243A>T (p.Glu81Asp)
|
|
|
|
NM_000027.4(AGA):c.276G>A (p.Met92Ile)
|
|
|
|
NM_000027.4(AGA):c.279T>A (p.Asp93Glu)
|
|
|
|
NM_000027.4(AGA):c.280G>C (p.Gly94Arg)
|
|
|
|
NM_000027.4(AGA):c.281+12_281+13delinsAG
|
|
|
|
NM_000027.4(AGA):c.290T>C (p.Met97Thr)
|
|
|
|
NM_000027.4(AGA):c.292G>T (p.Asp98Tyr)
|
|
|
|
NM_000027.4(AGA):c.308G>A (p.Gly103Glu)
|
rs1736932419
|
|
|
NM_000027.4(AGA):c.311A>T (p.Asp104Val)
|
|
|
|
NM_000027.4(AGA):c.312T>G (p.Asp104Glu)
|
|
|
|
NM_000027.4(AGA):c.338G>A (p.Gly113Asp)
|
|
|
|
NM_000027.4(AGA):c.340G>A (p.Val114Met)
|
|
|
|
NM_000027.4(AGA):c.34G>C (p.Val12Leu)
|
rs74626221
|
|
|
NM_000027.4(AGA):c.394+6T>C
|
|
|
|
NM_000027.4(AGA):c.428A>G (p.Asn143Ser)
|
|
|
|
NM_000027.4(AGA):c.454C>A (p.Gln152Lys)
|
|
|
|
NM_000027.4(AGA):c.46C>T (p.Leu16Phe)
|
|
|
|
NM_000027.4(AGA):c.481C>T (p.Arg161Trp)
|
|
|
|
NM_000027.4(AGA):c.530A>G (p.Lys177Arg)
|
rs1189458949
|
|
|
NM_000027.4(AGA):c.545A>G (p.Tyr182Cys)
|
|
|
|
NM_000027.4(AGA):c.557G>C (p.Gly186Ala)
|
|
|
|
NM_000027.4(AGA):c.559A>G (p.Ile187Val)
|
rs2111015706
|
|
|
NM_000027.4(AGA):c.611A>T (p.His204Leu)
|
|
|
|
NM_000027.4(AGA):c.620T>C (p.Ile207Thr)
|
|
|
|
NM_000027.4(AGA):c.623-3T>C
|
|
|
|
NM_000027.4(AGA):c.693A>G (p.Ile231Met)
|
rs1579042146
|
|
|
NM_000027.4(AGA):c.700C>T (p.Arg234Cys)
|
|
|
|
NM_000027.4(AGA):c.701G>A (p.Arg234His)
|
|
|
|
NM_000027.4(AGA):c.705A>C (p.Val235=)
|
|
|
|
NM_000027.4(AGA):c.745G>A (p.Asp249Asn)
|
|
|
|
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)
|
rs386833433
|
|
|
NM_000027.4(AGA):c.757G>A (p.Ala253Thr)
|
rs1736735409
|
|
|
NM_000027.4(AGA):c.763G>A (p.Ala255Thr)
|
|
|
|
NM_000027.4(AGA):c.76C>T (p.Pro26Ser)
|
|
|
|
NM_000027.4(AGA):c.776A>T (p.Asn259Ile)
|
|
|
|
NM_000027.4(AGA):c.791T>C (p.Met264Thr)
|
rs1404090170
|
|
|
NM_000027.4(AGA):c.807-3C>T
|
|
|
|
NM_000027.4(AGA):c.809A>G (p.Tyr270Cys)
|
|
|
|
NM_000027.4(AGA):c.833GAG[1] (p.Gly279del)
|
rs764622951
|
|
|
NM_000027.4(AGA):c.844C>G (p.Pro282Ala)
|
rs2111006963
|
|
|
NM_000027.4(AGA):c.854C>G (p.Ala285Gly)
|
|
|
|
NM_000027.4(AGA):c.865G>A (p.Val289Met)
|
|
|
|
NM_000027.4(AGA):c.874A>G (p.Arg292Gly)
|
|
|
|
NM_000027.4(AGA):c.900C>A (p.Phe300Leu)
|
rs2111006859
|
|
|
NM_000027.4(AGA):c.902T>G (p.Phe301Cys)
|
rs35916166
|
|
|
NM_000027.4(AGA):c.914T>A (p.Ile305Lys)
|
|
|
|
NM_000027.4(AGA):c.914T>G (p.Ile305Arg)
|
|
|
|
NM_000027.4(AGA):c.915A>G (p.Ile305Met)
|
|
|
|
NM_000027.4(AGA):c.923A>G (p.Asn308Ser)
|
|
|
|
NM_000027.4(AGA):c.935G>A (p.Ser312Asn)
|
|
|
|
NM_000027.4(AGA):c.938dup (p.Tyr313Ter)
|
|
|
|
NM_000027.4(AGA):c.939C>T (p.Tyr313=)
|
|
|
|
NM_000027.4(AGA):c.978T>G (p.Phe326Leu)
|
rs373878347
|
|
|
NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup)
|
rs1376128325
|
|
|
NM_000035.4(ALDOB):c.341C>T (p.Ala114Val)
|
|
|
|
NM_000035.4(ALDOB):c.346C>T (p.Leu116Phe)
|
|
|
|
NM_000035.4(ALDOB):c.466G>A (p.Asp156Asn)
|
rs752810910
|
|
|
NM_000035.4(ALDOB):c.472T>A (p.Cys158Ser)
|
rs1386846765
|
|
|
NM_000035.4(ALDOB):c.505A>G (p.Asn169Asp)
|
rs1460923575
|
|
|
NM_000035.4(ALDOB):c.508G>A (p.Ala170Thr)
|
|
|
|
NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu)
|
rs139442303
|
|
|
NM_000035.4(ALDOB):c.556A>G (p.Ile186Val)
|
|
|
|
NM_000035.4(ALDOB):c.733A>G (p.Thr245Ala)
|
rs748031490
|
|
|
NM_000035.4(ALDOB):c.794T>C (p.Val265Ala)
|
|
|
|
NM_000035.4(ALDOB):c.934G>A (p.Ala312Thr)
|
|
|
|
NM_000046.5(ARSB):c.1024G>A (p.Val342Met)
|
|
|
|
NM_000046.5(ARSB):c.1033C>T (p.Arg345Trp)
|
|
|
|
NM_000046.5(ARSB):c.1046A>T (p.His349Leu)
|
|
|
|
NM_000046.5(ARSB):c.1090C>T (p.His364Tyr)
|
rs1457848169
|
|
|
NM_000046.5(ARSB):c.1181A>G (p.Asn394Ser)
|
|
|
|
NM_000046.5(ARSB):c.1190C>T (p.Pro397Leu)
|
|
|
|
NM_000046.5(ARSB):c.11G>T (p.Arg4Leu)
|
|
|
|
NM_000046.5(ARSB):c.1208C>T (p.Ser403Leu)
|
|
|
|
NM_000046.5(ARSB):c.1211C>T (p.Pro404Leu)
|
|
|
|
NM_000046.5(ARSB):c.1247A>T (p.Asp416Val)
|
|
|
|
NM_000046.5(ARSB):c.1250C>T (p.Ser417Phe)
|
|
|
|
NM_000046.5(ARSB):c.1292C>A (p.Ala431Asp)
|
rs1748937951
|
|
|
NM_000046.5(ARSB):c.1334C>T (p.Pro445Leu)
|
rs1554069775
|
|
|
NM_000046.5(ARSB):c.1336+4G>T
|
|
|
|
NM_000046.5(ARSB):c.1342G>A (p.Gly448Ser)
|
|
|
|
NM_000046.5(ARSB):c.136C>T (p.His46Tyr)
|
|
|
|
NM_000046.5(ARSB):c.1466G>A (p.Arg489Lys)
|
rs1748894464
|
|
|
NM_000046.5(ARSB):c.1491G>C (p.Lys497Asn)
|
|
|
|
NM_000046.5(ARSB):c.1499C>T (p.Ser500Phe)
|
|
|
|
NM_000046.5(ARSB):c.1554C>A (p.Asp518Glu)
|
rs1233108073
|
|
|
NM_000046.5(ARSB):c.1558C>T (p.Arg520Cys)
|
|
|
|
NM_000046.5(ARSB):c.241C>T (p.Leu81Phe)
|
|
|
|
NM_000046.5(ARSB):c.291G>C (p.Gln97His)
|
|
|
|
NM_000046.5(ARSB):c.302G>A (p.Gly101Asp)
|
rs2112580877
|
|
|
NM_000046.5(ARSB):c.34G>C (p.Gly12Arg)
|
|
|
|
NM_000046.5(ARSB):c.410G>A (p.Gly137Asp)
|
|
|
|
NM_000046.5(ARSB):c.448A>G (p.Met150Val)
|
|
|
|
NM_000046.5(ARSB):c.44C>T (p.Pro15Leu)
|
|
|
|
NM_000046.5(ARSB):c.46C>G (p.Arg16Gly)
|
|
|
|
NM_000046.5(ARSB):c.499+5T>C
|
|
|
|
NM_000046.5(ARSB):c.499+6G>A
|
|
|
|
NM_000046.5(ARSB):c.499G>C (p.Gly167Arg)
|
|
|
|
NM_000046.5(ARSB):c.523T>C (p.Tyr175His)
|
|
|
|
NM_000046.5(ARSB):c.532_533inv (p.His178Cys)
|
|
|
|
NM_000046.5(ARSB):c.538C>T (p.Arg180Cys)
|
|
|
|
NM_000046.5(ARSB):c.556G>A (p.Ala186Thr)
|
|
|
|
NM_000046.5(ARSB):c.593A>G (p.Asp198Gly)
|
rs1406969234
|
|
|
NM_000046.5(ARSB):c.5G>A (p.Gly2Asp)
|
|
|
|
NM_000046.5(ARSB):c.625A>T (p.Met209Leu)
|
|
|
|
NM_000046.5(ARSB):c.680C>A (p.Pro227Gln)
|
|
|
|
NM_000046.5(ARSB):c.683C>T (p.Pro228Leu)
|
|
|
|
NM_000046.5(ARSB):c.689A>G (p.Lys230Arg)
|
|
|
|
NM_000046.5(ARSB):c.713T>A (p.Leu238His)
|
|
|
|
NM_000046.5(ARSB):c.729_730delinsTT (p.Glu243_Pro244delinsAspSer)
|
rs2112484265
|
|
|
NM_000046.5(ARSB):c.755T>G (p.Leu252Trp)
|
|
|
|
NM_000046.5(ARSB):c.76CTG[6] (p.Leu32_Ala33insLeu)
|
|
|
|
NM_000046.5(ARSB):c.790C>A (p.His264Asn)
|
rs558569339
|
|
|
NM_000046.5(ARSB):c.803G>T (p.Gly268Val)
|
rs1554086400
|
|
|
NM_000046.5(ARSB):c.806T>C (p.Met269Thr)
|
|
|
|
NM_000046.5(ARSB):c.838G>A (p.Val280Ile)
|
|
|
|
NM_000046.5(ARSB):c.847G>C (p.Ala283Pro)
|
|
|
|
NM_000046.5(ARSB):c.873C>A (p.Asn291Lys)
|
rs2112483415
|
|
|
NM_000046.5(ARSB):c.886A>C (p.Ile296Leu)
|
rs1440962115
|
|
|
NM_000046.5(ARSB):c.891T>G (p.Phe297Leu)
|
|
|
|
NM_000046.5(ARSB):c.896C>T (p.Thr299Ile)
|
rs2112483313
|
|
|
NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)
|
|
|
|
NM_000046.5(ARSB):c.917T>C (p.Leu306Ser)
|
|
|
|
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del)
|
rs535493472
|
|
|
NM_000046.5(ARSB):c.925G>A (p.Gly309Ser)
|
|
|
|
NM_000046.5(ARSB):c.92T>C (p.Leu31Ser)
|
|
|
|
NM_000046.5(ARSB):c.976G>A (p.Val326Ile)
|
|
|
|
NM_000108.5(DLD):c.1006A>G (p.Arg336Gly)
|
rs776547214
|
|
|
NM_000108.5(DLD):c.1052A>G (p.Tyr351Cys)
|
|
|
|
NM_000108.5(DLD):c.1065T>G (p.Asp355Glu)
|
|
|
|
NM_000108.5(DLD):c.1148A>G (p.His383Arg)
|
|
|
|
NM_000108.5(DLD):c.118+12A>G
|
|
|
|
NM_000108.5(DLD):c.1212A>C (p.Lys404Asn)
|
|
|
|
NM_000108.5(DLD):c.1218A>C (p.Glu406Asp)
|
|
|
|
NM_000108.5(DLD):c.1236+5G>A
|
|
|
|
NM_000108.5(DLD):c.1337C>T (p.Ser446Leu)
|
|
|
|
NM_000108.5(DLD):c.1357G>A (p.Ala453Thr)
|
|
|
|
NM_000108.5(DLD):c.1373C>T (p.Pro458Leu)
|
|
|
|
NM_000108.5(DLD):c.140T>G (p.Ile47Arg)
|
|
|
|
NM_000108.5(DLD):c.1464G>A (p.Pro488=)
|
|
|
|
NM_000108.5(DLD):c.1502C>T (p.Ala501Val)
|
|
|
|
NM_000108.5(DLD):c.1517C>T (p.Ser506Leu)
|
|
|
|
NM_000108.5(DLD):c.161A>T (p.Tyr54Phe)
|
|
|
|
NM_000108.5(DLD):c.191G>C (p.Gly64Ala)
|
rs2031883055
|
|
|
NM_000108.5(DLD):c.194T>A (p.Phe65Tyr)
|
|
|
|
NM_000108.5(DLD):c.268-3T>A
|
rs2031928500
|
|
|
NM_000108.5(DLD):c.29C>T (p.Ser10Phe)
|
|
|
|
NM_000108.5(DLD):c.305A>T (p.His102Leu)
|
rs893865374
|
|
|
NM_000108.5(DLD):c.340T>G (p.Ser114Ala)
|
|
|
|
NM_000108.5(DLD):c.361G>A (p.Asp121Asn)
|
rs780305161
|
|
|
NM_000108.5(DLD):c.367A>G (p.Met123Val)
|
rs111352707
|
|
|
NM_000108.5(DLD):c.39+3G>C
|
rs2031564629
|
|
|
NM_000108.5(DLD):c.40-3T>A
|
|
|
|
NM_000108.5(DLD):c.40-3T>C
|
rs2116162419
|
|
|
NM_000108.5(DLD):c.499G>A (p.Ala167Thr)
|
rs2116221690
|
|
|
NM_000108.5(DLD):c.511A>C (p.Thr171Pro)
|
|
|
|
NM_000108.5(DLD):c.53A>G (p.Asn18Ser)
|
|
|
|
NM_000108.5(DLD):c.581C>T (p.Thr194Met)
|
|
|
|
NM_000108.5(DLD):c.58A>G (p.Ile20Val)
|
|
|
|
NM_000108.5(DLD):c.596C>A (p.Thr199Lys)
|
rs1336962180
|
|
|
NM_000108.5(DLD):c.675_676inv (p.Val226Ile)
|
|
|
|
NM_000108.5(DLD):c.6G>C (p.Gln2His)
|
|
|
|
NM_000108.5(DLD):c.765G>A (p.Met255Ile)
|
|
|
|
NM_000108.5(DLD):c.787C>T (p.Arg263Cys)
|
|
|
|
NM_000108.5(DLD):c.79C>T (p.Leu27Phe)
|
rs2116162795
|
|
|
NM_000108.5(DLD):c.831G>T (p.Lys277Asn)
|
|
|
|
NM_000108.5(DLD):c.866T>C (p.Ile289Thr)
|
rs2116264648
|
|
|
NM_000108.5(DLD):c.884C>T (p.Ala295Val)
|
|
|
|
NM_000108.5(DLD):c.901G>C (p.Ala301Pro)
|
|
|
|
NM_000108.5(DLD):c.919G>A (p.Asp307Asn)
|
rs2032282601
|
|
|
NM_000108.5(DLD):c.966G>C (p.Leu322Phe)
|
|
|
|
NM_000108.5(DLD):c.991C>G (p.Leu331Val)
|
|
|
|
NM_000147.5(FUCA1):c.1016T>C (p.Ile339Thr)
|
|
|
|
NM_000147.5(FUCA1):c.1048A>G (p.Ile350Val)
|
|
|
|
NM_000147.5(FUCA1):c.1082G>T (p.Trp361Leu)
|
|
|
|
NM_000147.5(FUCA1):c.1102G>A (p.Ala368Thr)
|
|
|
|
NM_000147.5(FUCA1):c.1123T>C (p.Trp375Arg)
|
|
|
|
NM_000147.5(FUCA1):c.1136G>C (p.Trp379Ser)
|
|
|
|
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln)
|
rs80358195
|
|
|
NM_000147.5(FUCA1):c.1174G>A (p.Gly392Arg)
|
rs1639135764
|
|
|
NM_000147.5(FUCA1):c.1180G>A (p.Ala394Thr)
|
|
|
|
NM_000147.5(FUCA1):c.1183G>A (p.Val395Ile)
|
|
|
|
NM_000147.5(FUCA1):c.1192A>G (p.Ile398Val)
|
|
|
|
NM_000147.5(FUCA1):c.1214A>T (p.Asn405Ile)
|
|
|
|
NM_000147.5(FUCA1):c.1226A>T (p.Asn409Ile)
|
|
|
|
NM_000147.5(FUCA1):c.1237C>T (p.Pro413Ser)
|
|
|
|
NM_000147.5(FUCA1):c.1249T>G (p.Ser417Ala)
|
|
|
|
NM_000147.5(FUCA1):c.1286A>G (p.Asp429Gly)
|
|
|
|
NM_000147.5(FUCA1):c.1295G>A (p.Trp432Ter)
|
rs1639127458
|
|
|
NM_000147.5(FUCA1):c.1309G>C (p.Asp437His)
|
rs1639125891
|
|
|
NM_000147.5(FUCA1):c.1384C>A (p.Leu462Met)
|
rs770042348
|
|
|
NM_000147.5(FUCA1):c.1392A>T (p.Gly464=)
|
rs2148436869
|
|
|
NM_000147.5(FUCA1):c.16A>G (p.Met6Val)
|
|
|
|
NM_000147.5(FUCA1):c.185T>G (p.Ile62Ser)
|
rs2148450635
|
|
|
NM_000147.5(FUCA1):c.187C>T (p.His63Tyr)
|
rs2148450632
|
|
|
NM_000147.5(FUCA1):c.209C>T (p.Pro70Leu)
|
rs770492031
|
|
|
NM_000147.5(FUCA1):c.212C>T (p.Ala71Val)
|
rs1224396509
|
|
|
NM_000147.5(FUCA1):c.266A>T (p.Tyr89Phe)
|
|
|
|
NM_000147.5(FUCA1):c.31G>T (p.Ala11Ser)
|
rs1455700210
|
|
|
NM_000147.5(FUCA1):c.360G>T (p.Trp120Cys)
|
rs758745364
|
|
|
NM_000147.5(FUCA1):c.377C>T (p.Ala126Val)
|
rs780117609
|
|
|
NM_000147.5(FUCA1):c.385G>T (p.Ala129Ser)
|
|
|
|
NM_000147.5(FUCA1):c.389+4A>C
|
|
|
|
NM_000147.5(FUCA1):c.389+6T>C
|
rs577790391
|
|
|
NM_000147.5(FUCA1):c.400T>G (p.Leu134Val)
|
|
|
|
NM_000147.5(FUCA1):c.404C>G (p.Thr135Arg)
|
rs779017131
|
|
|
NM_000147.5(FUCA1):c.404C>T (p.Thr135Met)
|
|
|
|
NM_000147.5(FUCA1):c.422G>C (p.Gly141Ala)
|
|
|
|
NM_000147.5(FUCA1):c.437C>G (p.Pro146Arg)
|
|
|
|
NM_000147.5(FUCA1):c.46_48dup (p.Leu20_Phe21insLeu)
|
|
|
|
NM_000147.5(FUCA1):c.48GCT[5] (p.Leu20dup)
|
rs756742678
|
|
|
NM_000147.5(FUCA1):c.4C>G (p.Arg2Gly)
|
rs2070955
|
|
|
NM_000147.5(FUCA1):c.524+4_524+5del
|
rs1158652644
|
|
|
NM_000147.5(FUCA1):c.55_60dup (p.Leu20_Phe21insLeuLeu)
|
|
|
|
NM_000147.5(FUCA1):c.574C>G (p.Leu192Val)
|
rs2148447710
|
|
|
NM_000147.5(FUCA1):c.580C>A (p.Leu194Ile)
|
rs1639545879
|
|
|
NM_000147.5(FUCA1):c.5G>A (p.Arg2Gln)
|
|
|
|
NM_000147.5(FUCA1):c.606A>C (p.Lys202Asn)
|
|
|
|
NM_000147.5(FUCA1):c.614A>G (p.His205Arg)
|
rs2148447684
|
|
|
NM_000147.5(FUCA1):c.655G>T (p.Val219Phe)
|
|
|
|
NM_000147.5(FUCA1):c.662+3A>G
|
|
|
|
NM_000147.5(FUCA1):c.663-3C>T
|
|
|
|
NM_000147.5(FUCA1):c.70G>A (p.Ala24Thr)
|
|
|
|
NM_000147.5(FUCA1):c.755A>G (p.Asp252Gly)
|
rs779515820
|
|
|
NM_000147.5(FUCA1):c.775G>T (p.Val259Leu)
|
|
|
|
NM_000147.5(FUCA1):c.781G>A (p.Val261Ile)
|
|
|
|
NM_000147.5(FUCA1):c.7G>A (p.Ala3Thr)
|
rs61996282
|
|
|
NM_000147.5(FUCA1):c.849C>A (p.Phe283Leu)
|
rs754452752
|
|
|
NM_000147.5(FUCA1):c.863T>G (p.Leu288Trp)
|
|
|
|
NM_000147.5(FUCA1):c.86G>T (p.Arg29Leu)
|
rs1639666097
|
|
|
NM_000147.5(FUCA1):c.871C>G (p.His291Asp)
|
rs2148442832
|
|
|
NM_000147.5(FUCA1):c.89G>C (p.Arg30Pro)
|
|
|
|
NM_000147.5(FUCA1):c.8C>T (p.Ala3Val)
|
|
|
|
NM_000147.5(FUCA1):c.905T>C (p.Phe302Ser)
|
|
|
|
NM_000147.5(FUCA1):c.908C>T (p.Ser303Phe)
|
|
|
|
NM_000147.5(FUCA1):c.910T>C (p.Trp304Arg)
|
rs2148442806
|
|
|
NM_000147.5(FUCA1):c.917A>G (p.Tyr306Cys)
|
|
|
|
NM_000147.5(FUCA1):c.917A>T (p.Tyr306Phe)
|
rs749790121
|
|
|
NM_000147.5(FUCA1):c.91G>A (p.Ala31Thr)
|
rs774539460
|
|
|
NM_000147.5(FUCA1):c.920G>A (p.Arg307His)
|
|
|
|
NM_000147.5(FUCA1):c.943G>A (p.Val315Ile)
|
rs746590345
|
|
|
NM_000147.5(FUCA1):c.949G>A (p.Glu317Lys)
|
|
|
|
NM_000147.5(FUCA1):c.969+5G>A
|
|
|
|
NM_000147.5(FUCA1):c.969G>A (p.Ser323=)
|
|
|
|
NM_000147.5(FUCA1):c.971A>G (p.Glu324Gly)
|
|
|
|
NM_000147.5(FUCA1):c.998G>A (p.Gly333Asp)
|
|
|
|
NM_000151.4(G6PC1):c.1012G>A (p.Val338Ile)
|
rs367727229
|
|
|
NM_000151.4(G6PC1):c.1018_1027delinsA (p.Val340_Tyr343delinsAsn)
|
rs1555560204
|
|
|
NM_000151.4(G6PC1):c.1036G>A (p.Ala346Thr)
|
|
|
|
NM_000151.4(G6PC1):c.1037C>T (p.Ala346Val)
|
|
|
|
NM_000151.4(G6PC1):c.103G>A (p.Val35Met)
|
|
|
|
NM_000151.4(G6PC1):c.1042del (p.Val348fs)
|
|
|
|
NM_000151.4(G6PC1):c.1055C>T (p.Pro352Leu)
|
|
|
|
NM_000151.4(G6PC1):c.1064A>G (p.Lys355Arg)
|
|
|
|
NM_000151.4(G6PC1):c.1066T>C (p.Ser356Pro)
|
|
|
|
NM_000151.4(G6PC1):c.1070_1072del (p.Leu357del)
|
|
|
|
NM_000151.4(G6PC1):c.121A>G (p.Asn41Asp)
|
|
|
|
NM_000151.4(G6PC1):c.127T>C (p.Phe43Leu)
|
|
|
|
NM_000151.4(G6PC1):c.133G>A (p.Val45Ile)
|
rs145749644
|
|
|
NM_000151.4(G6PC1):c.133G>C (p.Val45Leu)
|
|
|
|
NM_000151.4(G6PC1):c.141C>G (p.Phe47Leu)
|
|
|
|
NM_000151.4(G6PC1):c.142C>T (p.Pro48Ser)
|
|
|
|
NM_000151.4(G6PC1):c.167C>A (p.Ala56Asp)
|
|
|
|
NM_000151.4(G6PC1):c.172G>A (p.Gly58Ser)
|
|
|
|
NM_000151.4(G6PC1):c.18T>A (p.Asn6Lys)
|
rs144652516
|
|
|
NM_000151.4(G6PC1):c.193G>C (p.Ala65Pro)
|
rs369472089
|
|
|
NM_000151.4(G6PC1):c.231-4A>G
|
rs1200297208
|
|
|
NM_000151.4(G6PC1):c.250C>T (p.Pro84Ser)
|
|
|
|
NM_000151.4(G6PC1):c.256T>C (p.Trp86Arg)
|
rs2056043139
|
|
|
NM_000151.4(G6PC1):c.269A>G (p.Asp90Gly)
|
|
|
|
NM_000151.4(G6PC1):c.27T>A (p.His9Gln)
|
|
|
|
NM_000151.4(G6PC1):c.295G>A (p.Val99Met)
|
|
|
|
NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala)
|
rs544563908
|
|
|
NM_000151.4(G6PC1):c.368C>A (p.Thr123Lys)
|
rs765306500
|
|
|
NM_000151.4(G6PC1):c.383A>G (p.Tyr128Cys)
|
rs2056069622
|
|
|
NM_000151.4(G6PC1):c.395C>T (p.Thr132Ile)
|
|
|
|
NM_000151.4(G6PC1):c.408C>T (p.Ser136=)
|
|
|
|
NM_000151.4(G6PC1):c.440G>A (p.Arg147Lys)
|
|
|
|
NM_000151.4(G6PC1):c.445C>T (p.Arg149Trp)
|
|
|
|
NM_000151.4(G6PC1):c.446G>A (p.Arg149Gln)
|
|
|
|
NM_000151.4(G6PC1):c.473G>A (p.Gly158Glu)
|
rs2151931742
|
|
|
NM_000151.4(G6PC1):c.532C>G (p.Pro178Ala)
|
|
|
|
NM_000151.4(G6PC1):c.562+4T>A
|
|
|
|
NM_000151.4(G6PC1):c.563-3C>T
|
rs1597991608
|
|
|
NM_000151.4(G6PC1):c.563G>A (p.Gly188Asp)
|
|
|
|
NM_000151.4(G6PC1):c.634A>T (p.Ile212Phe)
|
rs756944737
|
|
|
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile)
|
rs201649392
|
|
|
NM_000151.4(G6PC1):c.685G>A (p.Gly229Arg)
|
|
|
|
NM_000151.4(G6PC1):c.6_7delinsAA (p.Glu3Lys)
|
rs2151929052
|
|
|
NM_000151.4(G6PC1):c.735C>T (p.Cys245=)
|
|
|
|
NM_000151.4(G6PC1):c.736G>A (p.Glu246Lys)
|
|
|
|
NM_000151.4(G6PC1):c.780C>A (p.Ser260Arg)
|
rs748610705
|
|
|
NM_000151.4(G6PC1):c.800C>G (p.Thr267Arg)
|
|
|
|
NM_000151.4(G6PC1):c.836T>C (p.Met279Thr)
|
|
|
|
NM_000151.4(G6PC1):c.856G>A (p.Gly286Arg)
|
|
|
|
NM_000151.4(G6PC1):c.85T>A (p.Trp29Arg)
|
|
|
|
NM_000151.4(G6PC1):c.896T>C (p.Ile299Thr)
|
|
|
|
NM_000151.4(G6PC1):c.91A>T (p.Ile31Phe)
|
|
|
|
NM_000151.4(G6PC1):c.928G>A (p.Asp310Asn)
|
|
|
|
NM_000151.4(G6PC1):c.92T>A (p.Ile31Asn)
|
rs538960604
|
|
|
NM_000151.4(G6PC1):c.944C>T (p.Pro315Leu)
|
|
|
|
NM_000151.4(G6PC1):c.970G>A (p.Val324Ile)
|
|
|
|
NM_000151.4(G6PC1):c.977C>G (p.Ser326Cys)
|
|
|
|
NM_000151.4(G6PC1):c.98T>A (p.Val33Glu)
|
|
|
|
NM_000151.4(G6PC1):c.990T>G (p.Ser330Arg)
|
rs748053431
|
|
|
NM_000152.5(GAA):c.-32-13T>C
|
rs386834236
|
|
|
NM_000152.5(GAA):c.-32-3del
|
|
|
|
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)
|
rs886042960
|
|
|
NM_000152.5(GAA):c.1007T>C (p.Ile336Thr)
|
|
|
|
NM_000152.5(GAA):c.1033C>T (p.Pro345Ser)
|
|
|
|
NM_000152.5(GAA):c.1036G>C (p.Glu346Gln)
|
|
|
|
NM_000152.5(GAA):c.1039C>T (p.Pro347Ser)
|
rs2039144354
|
|
|
NM_000152.5(GAA):c.1049T>C (p.Val350Ala)
|
rs2039144934
|
|
|
NM_000152.5(GAA):c.1054C>A (p.Gln352Lys)
|
|
|
|
NM_000152.5(GAA):c.1069G>A (p.Val357Ile)
|
rs754449703
|
|
|
NM_000152.5(GAA):c.1069G>T (p.Val357Phe)
|
rs754449703
|
|
|
NM_000152.5(GAA):c.1075+5G>A
|
|
|
|
NM_000152.5(GAA):c.1076-11T>C
|
|
|
|
NM_000152.5(GAA):c.1090C>T (p.Pro364Ser)
|
|
|
|
NM_000152.5(GAA):c.1091C>T (p.Pro364Leu)
|
|
|
|
NM_000152.5(GAA):c.1097A>C (p.Tyr366Ser)
|
rs2143854757
|
|
|
NM_000152.5(GAA):c.1103G>T (p.Gly368Val)
|
rs368244038
|
|
|
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)
|
rs2039149745
|
|
|
NM_000152.5(GAA):c.1118T>G (p.Leu373Arg)
|
rs2039150286
|
|
|
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys)
|
rs752002666
|
|
|
NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn)
|
|
|
|
NM_000152.5(GAA):c.1135TCC[1] (p.Ser380del)
|
|
|
|
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr)
|
rs377233099
|
|
|
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe)
|
rs377233099
|
|
|
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr)
|
rs1193750279
|
|
|
NM_000152.5(GAA):c.1158G>T (p.Gln386His)
|
rs1400466814
|
|
|
NM_000152.5(GAA):c.115C>A (p.Pro39Thr)
|
rs759236536
|
|
|
NM_000152.5(GAA):c.1160T>C (p.Val387Ala)
|
|
|
|
NM_000152.5(GAA):c.1160TGG[1] (p.Val388del)
|
|
|
|
NM_000152.5(GAA):c.1172T>A (p.Met391Lys)
|
|
|
|
NM_000152.5(GAA):c.1173G>A (p.Met391Ile)
|
rs2143855905
|
|
|
NM_000152.5(GAA):c.1178G>C (p.Arg393Thr)
|
|
|
|
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr)
|
rs190889375
|
|
|
NM_000152.5(GAA):c.1184A>G (p.His395Arg)
|
rs775121651
|
|
|
NM_000152.5(GAA):c.118C>G (p.Arg40Gly)
|
rs767409395
|
|
|
NM_000152.5(GAA):c.1192C>A (p.Leu398Met)
|
rs369707231
|
|
|
NM_000152.5(GAA):c.1194+3G>T
|
rs368539333
|
|
|
NM_000152.5(GAA):c.1194+6T>C
|
rs1470004759
|
|
|
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro)
|
rs2039157992
|
|
|
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro)
|
rs372799904
|
|
|
NM_000152.5(GAA):c.1234_1236dup (p.Arg412dup)
|
rs2143857460
|
|
|
NM_000152.5(GAA):c.1240T>C (p.Phe414Leu)
|
rs886042630
|
|
|
NM_000152.5(GAA):c.1246T>G (p.Phe416Val)
|
|
|
|
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg)
|
rs2039159106
|
|
|
NM_000152.5(GAA):c.1254G>A (p.Lys418=)
|
rs769131433
|
|
|
NM_000152.5(GAA):c.1256A>G (p.Asp419Gly)
|
rs1397577545
|
|
|
NM_000152.5(GAA):c.1267G>A (p.Asp423Asn)
|
|
|
|
NM_000152.5(GAA):c.1273C>A (p.Pro425Thr)
|
rs1283810246
|
|
|
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser)
|
rs1283810246
|
|
|
NM_000152.5(GAA):c.1276G>A (p.Ala426Thr)
|
rs2143857881
|
|
|
NM_000152.5(GAA):c.1303G>A (p.Gly435Ser)
|
|
|
|
NM_000152.5(GAA):c.1315A>G (p.Met439Val)
|
|
|
|
NM_000152.5(GAA):c.1317G>A (p.Met439Ile)
|
rs991245388
|
|
|
NM_000152.5(GAA):c.1320G>A (p.Met440Ile)
|
|
|
|
NM_000152.5(GAA):c.1326+6T>C
|
rs1199225255
|
|
|
NM_000152.5(GAA):c.1326G>A (p.Val442=)
|
|
|
|
NM_000152.5(GAA):c.1327-7T>G
|
rs774490566
|
|
|
NM_000152.5(GAA):c.133T>G (p.Ser45Ala)
|
rs1322709296
|
|
|
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile)
|
rs145712232
|
|
|
NM_000152.5(GAA):c.1345T>G (p.Ser449Ala)
|
|
|
|
NM_000152.5(GAA):c.134C>T (p.Ser45Phe)
|
rs1179395024
|
|
|
NM_000152.5(GAA):c.1358G>A (p.Gly453Glu)
|
rs2039191662
|
|
|
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu)
|
rs2039191855
|
|
|
NM_000152.5(GAA):c.1372T>C (p.Tyr458His)
|
rs1567832012
|
|
|
NM_000152.5(GAA):c.1375G>T (p.Asp459Tyr)
|
rs535644999
|
|
|
NM_000152.5(GAA):c.1380G>C (p.Glu460Asp)
|
|
|
|
NM_000152.5(GAA):c.1382G>A (p.Gly461Asp)
|
rs1277491722
|
|
|
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp)
|
rs2039193001
|
|
|
NM_000152.5(GAA):c.1392_1393delinsTT (p.Arg464_Gly465delinsSerTrp)
|
|
|
|
NM_000152.5(GAA):c.1393G>C (p.Gly465Arg)
|
|
|
|
NM_000152.5(GAA):c.1393G>T (p.Gly465Trp)
|
|
|
|
NM_000152.5(GAA):c.1396G>C (p.Val466Leu)
|
rs375006053
|
|
|
NM_000152.5(GAA):c.1402A>C (p.Ile468Leu)
|
rs886043148
|
|
|
NM_000152.5(GAA):c.1409A>G (p.Asn470Ser)
|
|
|
|
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
|
rs886043068
|
|
|
NM_000152.5(GAA):c.1424C>T (p.Pro475Leu)
|
|
|
|
NM_000152.5(GAA):c.1426C>A (p.Leu476Met)
|
rs756613882
|
|
|
NM_000152.5(GAA):c.1431T>G (p.Ile477Met)
|
rs1598580369
|
|
|
NM_000152.5(GAA):c.1438-10C>G
|
rs1029231930
|
|
|
NM_000152.5(GAA):c.1438-7_1438-5del
|
rs764583466
|
|
|
NM_000152.5(GAA):c.1439T>A (p.Val480Glu)
|
|
|
|
NM_000152.5(GAA):c.1439T>C (p.Val480Ala)
|
rs1224298513
|
|
|
NM_000152.5(GAA):c.1454C>T (p.Thr485Ile)
|
rs2143872073
|
|
|
NM_000152.5(GAA):c.1456G>A (p.Ala486Thr)
|
rs1283045273
|
|
|
NM_000152.5(GAA):c.1457C>T (p.Ala486Val)
|
rs2039213698
|
|
|
NM_000152.5(GAA):c.1468T>C (p.Phe490Leu)
|
rs2143872278
|
|
|
NM_000152.5(GAA):c.1469T>G (p.Phe490Cys)
|
|
|
|
NM_000152.5(GAA):c.1472_1474del (p.Thr491del)
|
|
|
|
NM_000152.5(GAA):c.1484C>T (p.Ala495Val)
|
|
|
|
NM_000152.5(GAA):c.148G>A (p.Glu50Lys)
|
rs1555598609
|
|
|
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys)
|
rs1473805095
|
|
|
NM_000152.5(GAA):c.1502A>G (p.Asp501Gly)
|
rs2143872652
|
|
|
NM_000152.5(GAA):c.1508T>C (p.Val503Ala)
|
|
|
|
NM_000152.5(GAA):c.1518C>G (p.Phe506Leu)
|
rs1464913441
|
|
|
NM_000152.5(GAA):c.1532C>T (p.Pro511Leu)
|
|
|
|
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu)
|
rs143491365
|
|
|
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)
|
rs777571608
|
|
|
NM_000152.5(GAA):c.1546T>C (p.Trp516Arg)
|
|
|
|
NM_000152.5(GAA):c.1551+4A>C
|
|
|
|
NM_000152.5(GAA):c.1551+6T>C
|
|
|
|
NM_000152.5(GAA):c.1552-14_1552-1del
|
rs1567833173
|
|
|
NM_000152.5(GAA):c.1552-3C>T
|
rs375470378
|
|
|
NM_000152.5(GAA):c.1553_1555dup (p.Asp518_Met519insAsn)
|
rs2039221468
|
|
|
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser)
|
rs1555600852
|
|
|
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys)
|
rs2039222579
|
|
|
NM_000152.5(GAA):c.1572C>G (p.Asn524Lys)
|
rs1417304813
|
|
|
NM_000152.5(GAA):c.1576A>G (p.Ile526Val)
|
rs2039222806
|
|
|
NM_000152.5(GAA):c.1579A>G (p.Arg527Gly)
|
|
|
|
NM_000152.5(GAA):c.1580G>A (p.Arg527Lys)
|
|
|
|
NM_000152.5(GAA):c.1594G>C (p.Gly532Arg)
|
|
|
|
NM_000152.5(GAA):c.1594G>T (p.Gly532Cys)
|
rs773576381
|
|
|
NM_000152.5(GAA):c.159C>A (p.His53Gln)
|
|
|
|
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg)
|
rs1039935633
|
|
|
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu)
|
rs1039935633
|
|
|
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys)
|
rs1351247900
|
|
|
NM_000152.5(GAA):c.1606A>G (p.Asn536Asp)
|
rs2039224225
|
|
|
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys)
|
rs2039224372
|
|
|
NM_000152.5(GAA):c.1611G>T (p.Glu537Asp)
|
|
|
|
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser)
|
rs2039224662
|
|
|
NM_000152.5(GAA):c.161C>T (p.Pro54Leu)
|
rs768898668
|
|
|
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu)
|
rs1598582130
|
|
|
NM_000152.5(GAA):c.1628A>G (p.Tyr543Cys)
|
rs1160583761
|
|
|
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met)
|
rs1598582152
|
|
|
NM_000152.5(GAA):c.1631T>A (p.Val544Glu)
|
rs1567833361
|
|
|
NM_000152.5(GAA):c.1635T>A (p.Pro545=)
|
|
|
|
NM_000152.5(GAA):c.1637-10_1637-9delinsGA
|
rs2143882002
|
|
|
NM_000152.5(GAA):c.1637-12_1637-9del
|
|
|
|
NM_000152.5(GAA):c.1638_1639delinsCA (p.Val547Met)
|
|
|
|
NM_000152.5(GAA):c.1642G>T (p.Val548Phe)
|
rs1567834141
|
|
|
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala)
|
rs2039246325
|
|
|
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg)
|
rs746401921
|
|
|
NM_000152.5(GAA):c.166C>A (p.His56Asn)
|
|
|
|
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe)
|
rs576056187
|
|
|
NM_000152.5(GAA):c.167A>T (p.His56Leu)
|
rs113740017
|
|
|
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu)
|
rs886043997
|
|
|
NM_000152.5(GAA):c.1693C>T (p.Leu565Phe)
|
|
|
|
NM_000152.5(GAA):c.1699A>C (p.Thr567Pro)
|
rs543222774
|
|
|
NM_000152.5(GAA):c.16C>T (p.Pro6Ser)
|
rs1424116613
|
|
|
NM_000152.5(GAA):c.1711C>G (p.Leu571Val)
|
|
|
|
NM_000152.5(GAA):c.1715A>C (p.His572Pro)
|
rs1424756308
|
|
|
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys)
|
rs1175728529
|
|
|
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp)
|
rs1555601255
|
|
|
NM_000152.5(GAA):c.1739C>T (p.Ala580Val)
|
rs909561836
|
|
|
NM_000152.5(GAA):c.1741A>G (p.Ile581Val)
|
rs559258217
|
|
|
NM_000152.5(GAA):c.1743C>G (p.Ile581Met)
|
rs527970795
|
|
|
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr)
|
rs369098202
|
|
|
NM_000152.5(GAA):c.1744G>C (p.Ala582Pro)
|
|
|
|
NM_000152.5(GAA):c.1750C>A (p.His584Asn)
|
rs780475756
|
|
|
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp)
|
rs1555601273
|
|
|
NM_000152.5(GAA):c.1754+6G>C
|
rs1282791373
|
|
|
NM_000152.5(GAA):c.1762G>A (p.Val588Met)
|
rs370138790
|
|
|
NM_000152.5(GAA):c.1794C>G (p.Ile598Met)
|
rs2039262568
|
|
|
NM_000152.5(GAA):c.17C>A (p.Pro6Gln)
|
rs771409180
|
|
|
NM_000152.5(GAA):c.1805C>T (p.Thr602Ile)
|
|
|
|
NM_000152.5(GAA):c.1817A>C (p.His606Pro)
|
rs1311698018
|
|
|
NM_000152.5(GAA):c.1822C>G (p.Arg608Gly)
|
|
|
|
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu)
|
rs377126280
|
|
|
NM_000152.5(GAA):c.1825T>C (p.Tyr609His)
|
|
|
|
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe)
|
rs2039264297
|
|
|
NM_000152.5(GAA):c.1837T>C (p.Trp613Arg)
|
|
|
|
NM_000152.5(GAA):c.1867C>G (p.Gln623Glu)
|
rs2143889579
|
|
|
NM_000152.5(GAA):c.1869G>T (p.Gln623His)
|
|
|
|
NM_000152.5(GAA):c.1870C>T (p.Leu624Phe)
|
rs764377962
|
|
|
NM_000152.5(GAA):c.1873G>A (p.Ala625Thr)
|
|
|
|
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser)
|
rs757445420
|
|
|
NM_000152.5(GAA):c.1876T>C (p.Ser626Pro)
|
rs1235035841
|
|
|
NM_000152.5(GAA):c.1880C>G (p.Ser627Cys)
|
|
|
|
NM_000152.5(GAA):c.1882G>A (p.Val628Met)
|
rs745911962
|
|
|
NM_000152.5(GAA):c.1882G>C (p.Val628Leu)
|
|
|
|
NM_000152.5(GAA):c.1885C>T (p.Pro629Ser)
|
|
|
|
NM_000152.5(GAA):c.1888+5G>C
|
|
|
|
NM_000152.5(GAA):c.1888+6_1888+14del
|
rs2039268703
|
|
|
NM_000152.5(GAA):c.1895T>C (p.Leu632Pro)
|
|
|
|
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro)
|
rs2039274878
|
|
|
NM_000152.5(GAA):c.1919C>T (p.Pro640Leu)
|
|
|
|
NM_000152.5(GAA):c.1926C>A (p.Val642=)
|
rs1346499760
|
|
|
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu)
|
rs770248553
|
|
|
NM_000152.5(GAA):c.1948C>A (p.Leu650Met)
|
rs1359573192
|
|
|
NM_000152.5(GAA):c.194C>A (p.Pro65His)
|
rs1482530928
|
|
|
NM_000152.5(GAA):c.194C>T (p.Pro65Leu)
|
|
|
|
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp)
|
rs939350425
|
|
|
NM_000152.5(GAA):c.1964A>G (p.Glu655Gly)
|
rs1269689890
|
|
|
NM_000152.5(GAA):c.1968G>C (p.Glu656Asp)
|
|
|
|
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly)
|
rs2039278476
|
|
|
NM_000152.5(GAA):c.1975G>C (p.Val659Leu)
|
rs2143892513
|
|
|
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile)
|
rs2039278795
|
|
|
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr)
|
rs916566117
|
|
|
NM_000152.5(GAA):c.2005C>G (p.Pro669Ala)
|
|
|
|
NM_000152.5(GAA):c.2018A>C (p.Asn673Thr)
|
rs1598585837
|
|
|
NM_000152.5(GAA):c.2035A>G (p.Ser679Gly)
|
rs1567835990
|
|
|
NM_000152.5(GAA):c.2040+19_2040+20inv
|
|
|
|
NM_000152.5(GAA):c.2040+4G>C
|
rs1598585909
|
|
|
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser)
|
rs2039286160
|
|
|
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg)
|
rs1484576607
|
|
|
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys)
|
rs1598586309
|
|
|
NM_000152.5(GAA):c.205C>G (p.Gln69Glu)
|
rs370174315
|
|
|
NM_000152.5(GAA):c.2064C>A (p.Ser688Arg)
|
|
|
|
NM_000152.5(GAA):c.2077C>A (p.Gln693Lys)
|
rs2039287681
|
|
|
NM_000152.5(GAA):c.2084T>C (p.Met695Thr)
|
rs2143895805
|
|
|
NM_000152.5(GAA):c.2093C>T (p.Ala698Val)
|
rs1001458871
|
|
|
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile)
|
rs2039288481
|
|
|
NM_000152.5(GAA):c.209C>A (p.Ala70Glu)
|
rs775376321
|
|
|
NM_000152.5(GAA):c.2101C>G (p.Leu701Val)
|
|
|
|
NM_000152.5(GAA):c.2108A>G (p.Tyr703Cys)
|
|
|
|
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr)
|
rs375681364
|
|
|
NM_000152.5(GAA):c.2110G>C (p.Ala704Pro)
|
rs375681364
|
|
|
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser)
|
rs375681364
|
|
|
NM_000152.5(GAA):c.2120C>T (p.Pro707Leu)
|
rs139009731
|
|
|
NM_000152.5(GAA):c.2122C>A (p.His708Asn)
|
rs149916476
|
|
|
NM_000152.5(GAA):c.2122C>G (p.His708Asp)
|
rs149916476
|
|
|
NM_000152.5(GAA):c.2124C>G (p.His708Gln)
|
rs751187069
|
|
|
NM_000152.5(GAA):c.212A>G (p.His71Arg)
|
rs760205477
|
|
|
NM_000152.5(GAA):c.2132_2133inv (p.Thr711Met)
|
|
|
|
NM_000152.5(GAA):c.2140C>T (p.His714Tyr)
|
rs1332887976
|
|
|
NM_000152.5(GAA):c.2152G>C (p.Val718Leu)
|
|
|
|
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr)
|
rs143324027
|
|
|
NM_000152.5(GAA):c.2156C>T (p.Ala719Val)
|
rs146762316
|
|
|
NM_000152.5(GAA):c.2170G>A (p.Ala724Thr)
|
rs1393059819
|
|
|
NM_000152.5(GAA):c.217G>T (p.Gly73Cys)
|
rs760644219
|
|
|
NM_000152.5(GAA):c.2189+3G>C
|
rs2143897458
|
|
|
NM_000152.5(GAA):c.2190-10C>A
|
rs1567838707
|
|
|
NM_000152.5(GAA):c.2203T>A (p.Ser735Thr)
|
rs1377188867
|
|
|
NM_000152.5(GAA):c.2204C>G (p.Ser735Cys)
|
|
|
|
NM_000152.5(GAA):c.2204C>T (p.Ser735Phe)
|
|
|
|
NM_000152.5(GAA):c.2210C>T (p.Thr737Ile)
|
|
|
|
NM_000152.5(GAA):c.2215A>G (p.Thr739Ala)
|
rs578245757
|
|
|
NM_000152.5(GAA):c.2218G>A (p.Val740Met)
|
rs752122499
|
|
|
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu)
|
rs767773929
|
|
|
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe)
|
rs1347832021
|
|
|
NM_000152.5(GAA):c.2239G>T (p.Gly747Trp)
|
rs778981088
|
|
|
NM_000152.5(GAA):c.223C>T (p.Pro75Ser)
|
rs755561471
|
|
|
NM_000152.5(GAA):c.2242G>A (p.Glu748Lys)
|
rs1057516363
|
|
|
NM_000152.5(GAA):c.2266C>T (p.Leu756Phe)
|
|
|
|
NM_000152.5(GAA):c.2270A>G (p.Gln757Arg)
|
rs768165130
|
|
|
NM_000152.5(GAA):c.2280G>T (p.Lys760Asn)
|
rs2143919634
|
|
|
NM_000152.5(GAA):c.2294G>T (p.Gly765Val)
|
rs1292367136
|
|
|
NM_000152.5(GAA):c.229G>T (p.Ala77Ser)
|
rs781365881
|
|
|
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser)
|
rs2039369551
|
|
|
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe)
|
rs372800172
|
|
|
NM_000152.5(GAA):c.2327A>G (p.Gln776Arg)
|
|
|
|
NM_000152.5(GAA):c.2330_2331+4dup
|
rs762245732
|
|
|
NM_000152.5(GAA):c.2331+4A>C
|
rs2039371081
|
|
|
NM_000152.5(GAA):c.2331+6T>G
|
|
|
|
NM_000152.5(GAA):c.2338G>C (p.Val780Leu)
|
rs1126690
|
|
|
NM_000152.5(GAA):c.2341G>A (p.Glu781Lys)
|
|
|
|
NM_000152.5(GAA):c.2345C>T (p.Ala782Val)
|
rs994916972
|
|
|
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe)
|
rs762310752
|
|
|
NM_000152.5(GAA):c.2354G>T (p.Ser785Ile)
|
|
|
|
NM_000152.5(GAA):c.2359C>A (p.Pro787Thr)
|
|
|
|
NM_000152.5(GAA):c.235C>T (p.Pro79Ser)
|
rs756342288
|
|
|
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)
|
rs2039384789
|
|
|
NM_000152.5(GAA):c.2362C>T (p.Pro788Ser)
|
|
|
|
NM_000152.5(GAA):c.2363C>A (p.Pro788His)
|
|
|
|
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln)
|
rs773629231
|
|
|
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser)
|
rs776111131
|
|
|
NM_000152.5(GAA):c.2380C>T (p.Arg794Cys)
|
|
|
|
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro)
|
rs200505871
|
|
|
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr)
|
rs539031621
|
|
|
NM_000152.5(GAA):c.2405G>A (p.Gly802Glu)
|
|
|
|
NM_000152.5(GAA):c.2410T>C (p.Trp804Arg)
|
rs2143925115
|
|
|
NM_000152.5(GAA):c.2416A>C (p.Thr806Pro)
|
|
|
|
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser)
|
rs774470696
|
|
|
NM_000152.5(GAA):c.2431C>G (p.Leu811Val)
|
|
|
|
NM_000152.5(GAA):c.2444A>C (p.Asn815Thr)
|
rs1365945556
|
|
|
NM_000152.5(GAA):c.244T>C (p.Cys82Arg)
|
rs1252748852
|
|
|
NM_000152.5(GAA):c.2453T>C (p.Leu818Pro)
|
|
|
|
NM_000152.5(GAA):c.2459_2461del (p.Ala820del)
|
rs1182634884
|
|
|
NM_000152.5(GAA):c.2463G>C (p.Gly821=)
|
|
|
|
NM_000152.5(GAA):c.2467A>G (p.Ile823Val)
|
|
|
|
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe)
|
rs758038288
|
|
|
NM_000152.5(GAA):c.2474C>T (p.Pro825Leu)
|
rs886042703
|
|
|
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg)
|
rs1555602967
|
|
|
NM_000152.5(GAA):c.2481+4C>G
|
|
|
|
NM_000152.5(GAA):c.2481+5C>G
|
rs1598592432
|
|
|
NM_000152.5(GAA):c.2481+6T>C
|
rs1479232207
|
|
|
NM_000152.5(GAA):c.2486C>G (p.Pro829Arg)
|
rs778187006
|
|
|
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg)
|
rs1598593166
|
|
|
NM_000152.5(GAA):c.2489G>C (p.Gly830Ala)
|
|
|
|
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile)
|
rs1555603057
|
|
|
NM_000152.5(GAA):c.2498C>T (p.Thr833Ile)
|
|
|
|
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp)
|
rs771259598
|
|
|
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys)
|
rs920085419
|
|
|
NM_000152.5(GAA):c.2518C>G (p.Pro840Ala)
|
rs930247743
|
|
|
NM_000152.5(GAA):c.2522T>C (p.Met841Thr)
|
rs758016479
|
|
|
NM_000152.5(GAA):c.2523G>C (p.Met841Ile)
|
rs1555603087
|
|
|
NM_000152.5(GAA):c.2525C>T (p.Ala842Val)
|
rs2143929732
|
|
|
NM_000152.5(GAA):c.2527C>G (p.Leu843Val)
|
rs2143929760
|
|
|
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro)
|
rs775524898
|
|
|
NM_000152.5(GAA):c.2540T>G (p.Leu847Arg)
|
rs1555603096
|
|
|
NM_000152.5(GAA):c.2552G>A (p.Gly851Glu)
|
rs764943318
|
|
|
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly)
|
rs2039404008
|
|
|
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys)
|
rs1039438307
|
|
|
NM_000152.5(GAA):c.2581G>C (p.Asp861His)
|
|
|
|
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala)
|
rs951742543
|
|
|
NM_000152.5(GAA):c.259A>C (p.Asn87His)
|
|
|
|
NM_000152.5(GAA):c.261C>G (p.Asn87Lys)
|
rs1052555748
|
|
|
NM_000152.5(GAA):c.2637G>A (p.Leu879=)
|
rs2039406388
|
|
|
NM_000152.5(GAA):c.2645A>G (p.Asn882Ser)
|
|
|
|
NM_000152.5(GAA):c.2646+3G>A
|
|
|
|
NM_000152.5(GAA):c.2646+4A>C
|
|
|
|
NM_000152.5(GAA):c.2646+4A>G
|
|
|
|
NM_000152.5(GAA):c.264C>G (p.Ser88Arg)
|
|
|
|
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro)
|
rs199524847
|
|
|
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu)
|
rs199524847
|
|
|
NM_000152.5(GAA):c.2678C>T (p.Thr893Ile)
|
|
|
|
NM_000152.5(GAA):c.2684A>G (p.Glu895Gly)
|
|
|
|
NM_000152.5(GAA):c.268T>A (p.Phe90Ile)
|
rs755402236
|
|
|
NM_000152.5(GAA):c.2696T>G (p.Leu899Arg)
|
|
|
|
NM_000152.5(GAA):c.26C>T (p.Ser9Phe)
|
rs1598568879
|
|
|
NM_000152.5(GAA):c.2705A>G (p.Gln902Arg)
|
|
|
|
NM_000152.5(GAA):c.2714C>G (p.Thr905Ser)
|
|
|
|
NM_000152.5(GAA):c.271G>T (p.Asp91Tyr)
|
rs1800299
|
|
|
NM_000152.5(GAA):c.2722G>A (p.Gly908Ser)
|
|
|
|
NM_000152.5(GAA):c.2722G>T (p.Gly908Cys)
|
rs2039415739
|
|
|
NM_000152.5(GAA):c.2723G>T (p.Gly908Val)
|
rs2143933949
|
|
|
NM_000152.5(GAA):c.2729C>T (p.Ala910Val)
|
|
|
|
NM_000152.5(GAA):c.2732C>T (p.Thr911Met)
|
rs1027032995
|
|
|
NM_000152.5(GAA):c.2741A>C (p.Gln914Pro)
|
|
|
|
NM_000152.5(GAA):c.2745G>C (p.Gln915His)
|
rs2143934282
|
|
|
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe)
|
rs773667152
|
|
|
NM_000152.5(GAA):c.2758G>T (p.Gly920Cys)
|
|
|
|
NM_000152.5(GAA):c.2759G>A (p.Gly920Asp)
|
|
|
|
NM_000152.5(GAA):c.2761G>T (p.Val921Phe)
|
rs1555603286
|
|
|
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu)
|
rs1555603301
|
|
|
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr)
|
rs1598594483
|
|
|
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn)
|
rs756199247
|
|
|
NM_000152.5(GAA):c.2798A>G (p.Lys933Arg)
|
|
|
|
NM_000152.5(GAA):c.2799+2C>T
|
rs1555603318
|
|
|
NM_000152.5(GAA):c.2799+4A>T
|
|
|
|
NM_000152.5(GAA):c.2800-1G>A
|
|
|
|
NM_000152.5(GAA):c.2829G>A (p.Met943Ile)
|
rs2039430526
|
|
|
NM_000152.5(GAA):c.2855G>T (p.Cys952Phe)
|
|
|
|
NM_000152.5(GAA):c.2857T>C (p.Ter953Gln)
|
|
|
|
NM_000152.5(GAA):c.289G>A (p.Ala97Thr)
|
rs2143827017
|
|
|
NM_000152.5(GAA):c.298C>G (p.Gln100Glu)
|
|
|
|
NM_000152.5(GAA):c.29A>T (p.His10Leu)
|
|
|
|
NM_000152.5(GAA):c.310G>A (p.Glu104Lys)
|
rs201902338
|
|
|
NM_000152.5(GAA):c.310G>C (p.Glu104Gln)
|
rs201902338
|
|
|
NM_000152.5(GAA):c.311_313del (p.Glu104del)
|
rs2039038181
|
|
|
NM_000152.5(GAA):c.318_323dup (p.Gly107_Cys108dup)
|
rs2143827403
|
|
|
NM_000152.5(GAA):c.31C>G (p.Arg11Gly)
|
rs772394815
|
|
|
NM_000152.5(GAA):c.32G>T (p.Arg11Leu)
|
rs138812846
|
|
|
NM_000152.5(GAA):c.341A>G (p.Lys114Arg)
|
|
|
|
NM_000152.5(GAA):c.347G>A (p.Gly116Glu)
|
rs754285414
|
|
|
NM_000152.5(GAA):c.347G>C (p.Gly116Ala)
|
rs754285414
|
|
|
NM_000152.5(GAA):c.355G>A (p.Gly119Arg)
|
rs1555598802
|
|
|
NM_000152.5(GAA):c.368G>T (p.Gly123Val)
|
rs138034915
|
|
|
NM_000152.5(GAA):c.383T>C (p.Phe128Ser)
|
rs2039041547
|
|
|
NM_000152.5(GAA):c.396C>G (p.Ser132Arg)
|
rs2143828304
|
|
|
NM_000152.5(GAA):c.407A>G (p.Tyr136Cys)
|
|
|
|
NM_000152.5(GAA):c.415G>A (p.Glu139Lys)
|
|
|
|
NM_000152.5(GAA):c.419A>T (p.Asn140Ile)
|
|
|
|
NM_000152.5(GAA):c.41C>T (p.Ala14Val)
|
rs1221096819
|
|
|
NM_000152.5(GAA):c.427T>G (p.Ser143Ala)
|
rs1423110429
|
|
|
NM_000152.5(GAA):c.433G>A (p.Glu145Lys)
|
rs2143828679
|
|
|
NM_000152.5(GAA):c.446C>A (p.Thr149Lys)
|
|
|
|
NM_000152.5(GAA):c.448G>A (p.Ala150Thr)
|
rs991177340
|
|
|
NM_000152.5(GAA):c.452C>T (p.Thr151Ile)
|
rs1567826289
|
|
|
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del)
|
rs1555598888
|
|
|
NM_000152.5(GAA):c.466A>T (p.Thr156Ser)
|
rs1598570529
|
|
|
NM_000152.5(GAA):c.467C>A (p.Thr156Asn)
|
rs1394741472
|
|
|
NM_000152.5(GAA):c.467C>T (p.Thr156Ile)
|
rs1394741472
|
|
|
NM_000152.5(GAA):c.482C>A (p.Pro161His)
|
|
|
|
NM_000152.5(GAA):c.485A>G (p.Lys162Arg)
|
|
|
|
NM_000152.5(GAA):c.487G>A (p.Asp163Asn)
|
rs1204103099
|
|
|
NM_000152.5(GAA):c.497C>T (p.Thr166Ile)
|
|
|
|
NM_000152.5(GAA):c.49G>T (p.Ala17Ser)
|
rs751425831
|
|
|
NM_000152.5(GAA):c.503G>C (p.Arg168Pro)
|
rs376685205
|
|
|
NM_000152.5(GAA):c.515T>C (p.Met172Thr)
|
|
|
|
NM_000152.5(GAA):c.52C>T (p.Leu18Phe)
|
|
|
|
NM_000152.5(GAA):c.545C>G (p.Thr182Arg)
|
rs200524747
|
|
|
NM_000152.5(GAA):c.545C>T (p.Thr182Met)
|
rs200524747
|
|
|
NM_000152.5(GAA):c.546+5G>A
|
|
|
|
NM_000152.5(GAA):c.547-5_547-4delinsGG
|
|
|
|
NM_000152.5(GAA):c.547A>G (p.Ile183Val)
|
|
|
|
NM_000152.5(GAA):c.54C>T (p.Leu18=)
|
rs886053542
|
|
|
NM_000152.5(GAA):c.557C>A (p.Pro186Gln)
|
|
|
|
NM_000152.5(GAA):c.566G>A (p.Arg189Lys)
|
rs1598571878
|
|
|
NM_000152.5(GAA):c.571T>G (p.Tyr191Asp)
|
rs149295512
|
|
|
NM_000152.5(GAA):c.572A>G (p.Tyr191Cys)
|
|
|
|
NM_000152.5(GAA):c.583T>G (p.Leu195Val)
|
rs1323831512
|
|
|
NM_000152.5(GAA):c.58T>A (p.Ser20Thr)
|
|
|
|
NM_000152.5(GAA):c.590C>A (p.Thr197Asn)
|
rs761890037
|
|
|
NM_000152.5(GAA):c.590C>T (p.Thr197Ile)
|
rs761890037
|
|
|
NM_000152.5(GAA):c.593C>A (p.Pro198Gln)
|
rs765075888
|
|
|
NM_000152.5(GAA):c.593C>T (p.Pro198Leu)
|
|
|
|
NM_000152.5(GAA):c.595_596inv (p.His199Cys)
|
|
|
|
NM_000152.5(GAA):c.596A>T (p.His199Leu)
|
|
|
|
NM_000152.5(GAA):c.598G>T (p.Val200Phe)
|
|
|
|
NM_000152.5(GAA):c.599T>A (p.Val200Asp)
|
|
|
|
NM_000152.5(GAA):c.59C>G (p.Ser20Cys)
|
rs752449306
|
|
|
NM_000152.5(GAA):c.5G>C (p.Gly2Ala)
|
rs1245992455
|
|
|
NM_000152.5(GAA):c.613C>G (p.Pro205Ala)
|
|
|
|
NM_000152.5(GAA):c.613C>T (p.Pro205Ser)
|
|
|
|
NM_000152.5(GAA):c.616T>C (p.Ser206Pro)
|
|
|
|
NM_000152.5(GAA):c.619C>T (p.Pro207Ser)
|
|
|
|
NM_000152.5(GAA):c.623T>C (p.Leu208Pro)
|
rs2039071572
|
|
|
NM_000152.5(GAA):c.626A>G (p.Tyr209Cys)
|
|
|
|
NM_000152.5(GAA):c.637T>C (p.Phe213Leu)
|
|
|
|
NM_000152.5(GAA):c.649C>T (p.Pro217Ser)
|
rs1567827215
|
|
|
NM_000152.5(GAA):c.663C>G (p.Ile221Met)
|
rs142878958
|
|
|
NM_000152.5(GAA):c.667C>T (p.Arg223Cys)
|
rs886043961
|
|
|
NM_000152.5(GAA):c.667_668delinsTA (p.Arg223Tyr)
|
rs2143834814
|
|
|
NM_000152.5(GAA):c.686G>C (p.Arg229Pro)
|
rs776509432
|
|
|
NM_000152.5(GAA):c.688G>C (p.Val230Leu)
|
rs145866792
|
|
|
NM_000152.5(GAA):c.68C>T (p.Thr23Ile)
|
rs2039027538
|
|
|
NM_000152.5(GAA):c.693-5C>G
|
rs763538104
|
|
|
NM_000152.5(GAA):c.703A>G (p.Thr235Ala)
|
rs781731240
|
|
|
NM_000152.5(GAA):c.712C>T (p.Pro238Ser)
|
rs1294294268
|
|
|
NM_000152.5(GAA):c.716T>C (p.Leu239Pro)
|
rs2143845990
|
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
|
NM_000152.5(GAA):c.733T>G (p.Phe245Val)
|
|
|
|
NM_000152.5(GAA):c.737T>G (p.Leu246Arg)
|
rs1555599608
|
|
|
NM_000152.5(GAA):c.752C>G (p.Ser251Trp)
|
|
|
|
NM_000152.5(GAA):c.757C>T (p.Pro253Ser)
|
rs2143846362
|
|
|
NM_000152.5(GAA):c.769A>G (p.Ile257Val)
|
rs199674786
|
|
|
NM_000152.5(GAA):c.775G>A (p.Gly259Ser)
|
rs2143846660
|
|
|
NM_000152.5(GAA):c.77T>G (p.Leu26Arg)
|
rs1385098269
|
|
|
NM_000152.5(GAA):c.781G>C (p.Ala261Pro)
|
rs543360994
|
|
|
NM_000152.5(GAA):c.782C>T (p.Ala261Val)
|
rs2143846719
|
|
|
NM_000152.5(GAA):c.787C>T (p.His263Tyr)
|
rs1555599660
|
|
|
NM_000152.5(GAA):c.790C>T (p.Leu264Phe)
|
|
|
|
NM_000152.5(GAA):c.794G>A (p.Ser265Asn)
|
rs772002851
|
|
|
NM_000152.5(GAA):c.809G>A (p.Ser270Asn)
|
rs1429834723
|
|
|
NM_000152.5(GAA):c.816C>G (p.Ser272Arg)
|
|
|
|
NM_000152.5(GAA):c.821C>T (p.Thr274Ile)
|
|
|
|
NM_000152.5(GAA):c.830C>T (p.Thr277Ile)
|
rs1598575278
|
|
|
NM_000152.5(GAA):c.840_842dup (p.Arg281dup)
|
rs2039123030
|
|
|
NM_000152.5(GAA):c.851C>A (p.Ala284Glu)
|
|
|
|
NM_000152.5(GAA):c.851C>T (p.Ala284Val)
|
rs147569830
|
|
|
NM_000152.5(GAA):c.858+4C>G
|
rs886042706
|
|
|
NM_000152.5(GAA):c.858+5A>G
|
rs2039124887
|
|
|
NM_000152.5(GAA):c.859-10C>T
|
rs2143848802
|
|
|
NM_000152.5(GAA):c.859-3C>T
|
rs1356743231
|
|
|
NM_000152.5(GAA):c.859-8T>G
|
rs2143848824
|
|
|
NM_000152.5(GAA):c.866C>A (p.Ala289Glu)
|
|
|
|
NM_000152.5(GAA):c.883C>A (p.His295Asn)
|
rs751639773
|
|
|
NM_000152.5(GAA):c.883C>T (p.His295Tyr)
|
rs751639773
|
|
|
NM_000152.5(GAA):c.899C>A (p.Ala300Glu)
|
rs1032949450
|
|
|
NM_000152.5(GAA):c.8T>C (p.Val3Ala)
|
rs1037603957
|
|
|
NM_000152.5(GAA):c.924C>A (p.His308Gln)
|
rs370105640
|
|
|
NM_000152.5(GAA):c.928G>A (p.Val310Met)
|
|
|
|
NM_000152.5(GAA):c.928G>T (p.Val310Leu)
|
rs941586376
|
|
|
NM_000152.5(GAA):c.93_95del (p.Leu32del)
|
rs1278892703
|
|
|
NM_000152.5(GAA):c.954G>A (p.Met318Ile)
|
rs2143850104
|
|
|
NM_000152.5(GAA):c.955+5G>A
|
rs759508507
|
|
|
NM_000152.5(GAA):c.955G>A (p.Asp319Asn)
|
rs1359009455
|
|
|
NM_000152.5(GAA):c.956-3C>T
|
rs1421879461
|
|
|
NM_000152.5(GAA):c.956-8C>A
|
rs369149976
|
|
|
NM_000152.5(GAA):c.956A>G (p.Asp319Gly)
|
|
|
|
NM_000152.5(GAA):c.958_959delinsAG (p.Val320Arg)
|
|
|
|
NM_000152.5(GAA):c.960G>A (p.Val320=)
|
rs2143852588
|
|
|
NM_000152.5(GAA):c.961G>A (p.Val321Ile)
|
rs895612400
|
|
|
NM_000152.5(GAA):c.961G>T (p.Val321Phe)
|
|
|
|
NM_000152.5(GAA):c.971C>G (p.Pro324Arg)
|
|
|
|
NM_000152.5(GAA):c.974G>A (p.Ser325Asn)
|
rs905633601
|
|
|
NM_000152.5(GAA):c.976C>T (p.Pro326Ser)
|
rs2039142344
|
|
|
NM_000152.5(GAA):c.982C>T (p.Leu328Phe)
|
rs1555599956
|
|
|
NM_000152.5(GAA):c.98A>G (p.His33Arg)
|
rs773479616
|
|
|
NM_000154.2(GALK1):c.1055C>A (p.Thr352Lys)
|
|
|
|
NM_000154.2(GALK1):c.1096C>G (p.Arg366Gly)
|
rs536478616
|
|
|
NM_000154.2(GALK1):c.1132T>G (p.Phe378Val)
|
|
|
|
NM_000154.2(GALK1):c.116A>C (p.Asn39Thr)
|
rs536209426
|
|
|
NM_000154.2(GALK1):c.121A>T (p.Ile41Phe)
|
rs1185378925
|
|
|
NM_000154.2(GALK1):c.163A>G (p.Met55Val)
|
rs925336919
|
|
|
NM_000154.2(GALK1):c.270T>G (p.Phe90Leu)
|
|
|
|
NM_000154.2(GALK1):c.37C>A (p.Leu13Met)
|
rs1001223598
|
|
|
NM_000154.2(GALK1):c.406G>C (p.Gly136Arg)
|
|
|
|
NM_000154.2(GALK1):c.442G>T (p.Ala148Ser)
|
|
|
|
NM_000154.2(GALK1):c.56C>A (p.Ala19Asp)
|
|
|
|
NM_000154.2(GALK1):c.719G>A (p.Arg240Gln)
|
|
|
|
NM_000154.2(GALK1):c.796G>A (p.Ala266Thr)
|
|
|
|
NM_000154.2(GALK1):c.826C>T (p.Arg276Trp)
|
|
|
|
NM_000154.2(GALK1):c.82C>T (p.Pro28Ser)
|
rs104894572
|
|
|
NM_000154.2(GALK1):c.859C>T (p.Arg287Cys)
|
|
|
|
NM_000154.2(GALK1):c.866C>T (p.Ala289Val)
|
|
|
|
NM_000154.2(GALK1):c.919A>C (p.Met307Leu)
|
rs2061566977
|
|
|
NM_000154.2(GALK1):c.949G>A (p.Asp317Asn)
|
|
|
|
NM_000155.4(GALT):c.1008G>A (p.Met336Ile)
|
rs770770917
|
|
|
NM_000155.4(GALT):c.1024C>A (p.Leu342Ile)
|
rs111033812
|
|
|
NM_000155.4(GALT):c.1042G>A (p.Asp348Asn)
|
|
|
|
NM_000155.4(GALT):c.1085C>T (p.Pro362Leu)
|
rs1821228380
|
|
|
NM_000155.4(GALT):c.1108C>T (p.Gln370Ter)
|
rs111033823
|
|
|
NM_000155.4(GALT):c.1117_1118del (p.Arg373fs)
|
|
|
|
NM_000155.4(GALT):c.157T>A (p.Trp53Arg)
|
rs1131691837
|
|
|
NM_000155.4(GALT):c.173A>T (p.Glu58Val)
|
|
|
|
NM_000155.4(GALT):c.194T>C (p.Val65Ala)
|
|
|
|
NM_000155.4(GALT):c.19G>T (p.Asp7Tyr)
|
rs1469998825
|
|
|
NM_000155.4(GALT):c.203A>C (p.His68Pro)
|
rs193922247
|
|
|
NM_000155.4(GALT):c.252G>A (p.Glu84=)
|
|
|
|
NM_000155.4(GALT):c.253-6C>A
|
rs753450355
|
|
|
NM_000155.4(GALT):c.253-6C>G
|
|
|
|
NM_000155.4(GALT):c.295T>A (p.Phe99Ile)
|
rs1223049216
|
|
|
NM_000155.4(GALT):c.298C>G (p.Pro100Ala)
|
|
|
|
NM_000155.4(GALT):c.299C>G (p.Pro100Arg)
|
rs1057524572
|
|
|
NM_000155.4(GALT):c.31C>G (p.Arg11Gly)
|
|
|
|
NM_000155.4(GALT):c.328+33G>A
|
rs767197888
|
|
|
NM_000155.4(GALT):c.32G>A (p.Arg11His)
|
rs757632977
|
|
|
NM_000155.4(GALT):c.346C>G (p.Leu116Val)
|
rs1554709252
|
|
|
NM_000155.4(GALT):c.371G>T (p.Gly124Val)
|
|
|
|
NM_000155.4(GALT):c.40G>A (p.Ala14Thr)
|
|
|
|
NM_000155.4(GALT):c.419C>T (p.Pro140Leu)
|
rs1821147228
|
|
|
NM_000155.4(GALT):c.430G>C (p.Val144Leu)
|
rs2132343177
|
|
|
NM_000155.4(GALT):c.457G>A (p.Ala153Thr)
|
|
|
|
NM_000155.4(GALT):c.502_504del (p.Val168del)
|
rs1219976432
|
|
|
NM_000155.4(GALT):c.507+5G>A
|
rs886043775
|
|
|
NM_000155.4(GALT):c.508-29del
|
rs111033711
|
|
|
NM_000155.4(GALT):c.529A>G (p.Met177Val)
|
|
|
|
NM_000155.4(GALT):c.542C>A (p.Ser181Tyr)
|
rs367543259
|
|
|
NM_000155.4(GALT):c.550C>T (p.His184Tyr)
|
rs111033716
|
|
|
NM_000155.4(GALT):c.554C>T (p.Pro185Leu)
|
rs111033722
|
|
|
NM_000155.4(GALT):c.560G>A (p.Cys187Tyr)
|
|
|
|
NM_000155.4(GALT):c.565-13T>A
|
rs2132344016
|
|
|
NM_000155.4(GALT):c.572C>T (p.Ala191Val)
|
rs794727838
|
|
|
NM_000155.4(GALT):c.745T>C (p.Trp249Arg)
|
rs111033757
|
|
|
NM_000155.4(GALT):c.754C>A (p.Gln252Lys)
|
rs1564101859
|
|
|
NM_000155.4(GALT):c.793C>G (p.Pro265Ala)
|
rs111033764
|
|
|
NM_000155.4(GALT):c.797A>G (p.Glu266Gly)
|
rs1821178890
|
|
|
NM_000155.4(GALT):c.820+16A>C
|
rs1414791300
|
|
|
NM_000155.4(GALT):c.827C>G (p.Ala276Gly)
|
rs1564102003
|
|
|
NM_000155.4(GALT):c.844C>G (p.Leu282Val)
|
rs111033772
|
|
|
NM_000155.4(GALT):c.863A>G (p.Asn288Ser)
|
rs1821184031
|
|
|
NM_000155.4(GALT):c.885_886insATGGCGTCCTTTCCC (p.Pro295_Tyr296insMetAlaSerPhePro)
|
rs886043498
|
|
|
NM_000155.4(GALT):c.887A>G (p.Tyr296Cys)
|
rs775789069
|
|
|
NM_000155.4(GALT):c.931G>T (p.Ala311Ser)
|
|
|
|
NM_000155.4(GALT):c.950A>C (p.Gln317Pro)
|
|
|
|
NM_000155.4(GALT):c.976C>T (p.Leu326Phe)
|
rs1821199784
|
|
|
NM_000158.4(GBE1):c.1027A>G (p.Arg343Gly)
|
|
|
|
NM_000158.4(GBE1):c.1031G>T (p.Trp344Leu)
|
rs773381709
|
|
|
NM_000158.4(GBE1):c.1048C>T (p.Arg350Cys)
|
|
|
|
NM_000158.4(GBE1):c.107C>A (p.Pro36Gln)
|
|
|
|
NM_000158.4(GBE1):c.1088T>C (p.Leu363Pro)
|
rs965176553
|
|
|
NM_000158.4(GBE1):c.1109G>A (p.Gly370Asp)
|
|
|
|
NM_000158.4(GBE1):c.1112A>G (p.Gln371Arg)
|
|
|
|
NM_000158.4(GBE1):c.1144G>A (p.Gly382Arg)
|
|
|
|
NM_000158.4(GBE1):c.1148T>A (p.Leu383Gln)
|
rs777291512
|
|
|
NM_000158.4(GBE1):c.1148T>C (p.Leu383Pro)
|
|
|
|
NM_000158.4(GBE1):c.1183T>G (p.Leu395Val)
|
rs1269189934
|
|
|
NM_000158.4(GBE1):c.1202A>G (p.His401Arg)
|
|
|
|
NM_000158.4(GBE1):c.1264T>A (p.Ser422Thr)
|
rs2106945255
|
|
|
NM_000158.4(GBE1):c.1283G>A (p.Gly428Glu)
|
|
|
|
NM_000158.4(GBE1):c.1285G>A (p.Gly429Ser)
|
|
|
|
NM_000158.4(GBE1):c.1309A>G (p.Met437Val)
|
rs1288041902
|
|
|
NM_000158.4(GBE1):c.1315A>G (p.Ile439Val)
|
rs1357214851
|
|
|
NM_000158.4(GBE1):c.1322A>G (p.Asp441Gly)
|
rs1703799830
|
|
|
NM_000158.4(GBE1):c.1335+3A>C
|
|
|
|
NM_000158.4(GBE1):c.1368C>G (p.Asn456Lys)
|
rs2106938616
|
|
|
NM_000158.4(GBE1):c.1375G>A (p.Asp459Asn)
|
rs752100789
|
|
|
NM_000158.4(GBE1):c.1388C>T (p.Thr463Met)
|
|
|
|
NM_000158.4(GBE1):c.1402C>A (p.Arg468Ser)
|
rs776526697
|
|
|
NM_000158.4(GBE1):c.1403G>A (p.Arg468His)
|
|
|
|
NM_000158.4(GBE1):c.1466C>T (p.Ser489Leu)
|
|
|
|
NM_000158.4(GBE1):c.146A>G (p.Tyr49Cys)
|
|
|
|
NM_000158.4(GBE1):c.1471G>A (p.Ala491Thr)
|
rs772670028
|
|
|
NM_000158.4(GBE1):c.1528A>T (p.Thr510Ser)
|
rs751466558
|
|
|
NM_000158.4(GBE1):c.1534G>C (p.Val512Leu)
|
|
|
|
NM_000158.4(GBE1):c.1563A>C (p.Lys521Asn)
|
|
|
|
NM_000158.4(GBE1):c.1592G>A (p.Gly531Asp)
|
rs2106933633
|
|
|
NM_000158.4(GBE1):c.159C>A (p.Ser53Arg)
|
|
|
|
NM_000158.4(GBE1):c.1615A>T (p.Met539Leu)
|
|
|
|
NM_000158.4(GBE1):c.1618+3_1618+6del
|
|
|
|
NM_000158.4(GBE1):c.1619-3C>T
|
|
|
|
NM_000158.4(GBE1):c.162A>C (p.Gln54His)
|
|
|
|
NM_000158.4(GBE1):c.1666A>G (p.Asn556Asp)
|
|
|
|
NM_000158.4(GBE1):c.1712A>T (p.Asp571Val)
|
|
|
|
NM_000158.4(GBE1):c.1720C>T (p.Leu574Phe)
|
rs2106872197
|
|
|
NM_000158.4(GBE1):c.1727G>A (p.Arg576His)
|
|
|
|
NM_000158.4(GBE1):c.1757A>G (p.Asp586Gly)
|
|
|
|
NM_000158.4(GBE1):c.1759A>G (p.Met587Val)
|
|
|
|
NM_000158.4(GBE1):c.1771G>A (p.Glu591Lys)
|
|
|
|
NM_000158.4(GBE1):c.1803+5G>T
|
|
|
|
NM_000158.4(GBE1):c.1804-6T>G
|
rs753097564
|
|
|
NM_000158.4(GBE1):c.1814G>A (p.Ser605Asn)
|
|
|
|
NM_000158.4(GBE1):c.1831A>C (p.Asn611His)
|
rs2106869674
|
|
|
NM_000158.4(GBE1):c.1844C>A (p.Ala615Asp)
|
|
|
|
NM_000158.4(GBE1):c.1848T>G (p.Phe616Leu)
|
|
|
|
NM_000158.4(GBE1):c.1910G>A (p.Arg637Gln)
|
|
|
|
NM_000158.4(GBE1):c.193G>A (p.Gly65Ser)
|
|
|
|
NM_000158.4(GBE1):c.1970A>G (p.Tyr657Cys)
|
|
|
|
NM_000158.4(GBE1):c.19C>T (p.Pro7Ser)
|
rs1401990930
|
|
|
NM_000158.4(GBE1):c.1_18dup (p.Thr6_Pro7insMetAlaAlaProMetThr)
|
|
|
|
NM_000158.4(GBE1):c.2010T>G (p.Phe670Leu)
|
rs2106809858
|
|
|
NM_000158.4(GBE1):c.2067C>G (p.Ser689Arg)
|
|
|
|
NM_000158.4(GBE1):c.227T>C (p.Phe76Ser)
|
rs1267044758
|
|
|
NM_000158.4(GBE1):c.22G>A (p.Ala8Thr)
|
|
|
|
NM_000158.4(GBE1):c.22G>T (p.Ala8Ser)
|
rs1297879927
|
|
|
NM_000158.4(GBE1):c.232G>A (p.Val78Ile)
|
|
|
|
NM_000158.4(GBE1):c.259T>C (p.Tyr87His)
|
rs1705760813
|
|
|
NM_000158.4(GBE1):c.283G>A (p.Ala95Thr)
|
|
|
|
NM_000158.4(GBE1):c.289G>A (p.Gly97Arg)
|
|
|
|
NM_000158.4(GBE1):c.343A>G (p.Lys115Glu)
|
rs1705180182
|
|
|
NM_000158.4(GBE1):c.3G>C (p.Met1Ile)
|
|
|
|
NM_000158.4(GBE1):c.406G>A (p.Val136Met)
|
|
|
|
NM_000158.4(GBE1):c.429G>T (p.Lys143Asn)
|
|
|
|
NM_000158.4(GBE1):c.451G>A (p.Gly151Arg)
|
|
|
|
NM_000158.4(GBE1):c.497G>A (p.Arg166His)
|
|
|
|
NM_000158.4(GBE1):c.521A>T (p.Asp174Val)
|
|
|
|
NM_000158.4(GBE1):c.526A>T (p.Ile176Leu)
|
|
|
|
NM_000158.4(GBE1):c.534G>C (p.Trp178Cys)
|
|
|
|
NM_000158.4(GBE1):c.56A>G (p.Asn19Ser)
|
|
|
|
NM_000158.4(GBE1):c.574A>C (p.Lys192Gln)
|
|
|
|
NM_000158.4(GBE1):c.599A>G (p.Tyr200Cys)
|
|
|
|
NM_000158.4(GBE1):c.610G>T (p.Val204Leu)
|
rs2107072252
|
|
|
NM_000158.4(GBE1):c.640G>T (p.Ala214Ser)
|
|
|
|
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser)
|
rs1350258947
|
|
|
NM_000158.4(GBE1):c.697A>G (p.Asn233Asp)
|
|
|
|
NM_000158.4(GBE1):c.713T>C (p.Met238Thr)
|
|
|
|
NM_000158.4(GBE1):c.718A>G (p.Ile240Val)
|
rs868766244
|
|
|
NM_000158.4(GBE1):c.733T>C (p.Tyr245His)
|
rs2107066005
|
|
|
NM_000158.4(GBE1):c.748G>T (p.Gly250Cys)
|
|
|
|
NM_000158.4(GBE1):c.757A>G (p.Ile253Val)
|
rs2107065942
|
|
|
NM_000158.4(GBE1):c.793A>G (p.Thr265Ala)
|
|
|
|
NM_000158.4(GBE1):c.808C>A (p.Gln270Lys)
|
|
|
|
NM_000158.4(GBE1):c.809A>T (p.Gln270Leu)
|
|
|
|
NM_000158.4(GBE1):c.826G>C (p.Ala276Pro)
|
rs2107059765
|
|
|
NM_000158.4(GBE1):c.841A>T (p.Ile281Phe)
|
rs2107059729
|
|
|
NM_000158.4(GBE1):c.905T>C (p.Met302Thr)
|
rs1189654498
|
|
|
NM_000158.4(GBE1):c.919G>C (p.Asp307His)
|
|
|
|
NM_000158.4(GBE1):c.950G>A (p.Gly317Glu)
|
rs1253319926
|
|
|
NM_000158.4(GBE1):c.981T>A (p.Phe327Leu)
|
|
|
|
NM_000181.4(GUSB):c.10G>A (p.Gly4Arg)
|
|
|
|
NM_000181.4(GUSB):c.112T>C (p.Cys38Arg)
|
|
|
|
NM_000181.4(GUSB):c.1135A>T (p.Asn379Tyr)
|
rs1207640167
|
|
|
NM_000181.4(GUSB):c.1136A>G (p.Asn379Ser)
|
rs1289930946
|
|
|
NM_000181.4(GUSB):c.1273C>A (p.His425Asn)
|
|
|
|
NM_000181.4(GUSB):c.1285G>T (p.Val429Leu)
|
|
|
|
NM_000181.4(GUSB):c.1288A>C (p.Met430Leu)
|
rs768428238
|
|
|
NM_000181.4(GUSB):c.1300G>A (p.Val434Met)
|
|
|
|
NM_000181.4(GUSB):c.1330G>A (p.Val444Met)
|
|
|
|
NM_000181.4(GUSB):c.1349A>G (p.Asn450Ser)
|
rs2115949680
|
|
|
NM_000181.4(GUSB):c.1358C>T (p.Ala453Val)
|
rs912985278
|
|
|
NM_000181.4(GUSB):c.1382A>T (p.Tyr461Phe)
|
|
|
|
NM_000181.4(GUSB):c.1391+5G>A
|
|
|
|
NM_000181.4(GUSB):c.1421A>G (p.Asp474Gly)
|
|
|
|
NM_000181.4(GUSB):c.1423C>A (p.Pro475Thr)
|
|
|
|
NM_000181.4(GUSB):c.1430G>A (p.Arg477Gln)
|
|
|
|
NM_000181.4(GUSB):c.1476+3G>A
|
rs886042522
|
|
|
NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys)
|
rs121918178
|
|
|
NM_000181.4(GUSB):c.14C>T (p.Ser5Leu)
|
|
|
|
NM_000181.4(GUSB):c.1527C>A (p.His509Gln)
|
|
|
|
NM_000181.4(GUSB):c.1654-3T>C
|
|
|
|
NM_000181.4(GUSB):c.1654-7A>G
|
|
|
|
NM_000181.4(GUSB):c.169C>G (p.Arg57Gly)
|
rs772676579
|
|
|
NM_000181.4(GUSB):c.1703A>G (p.Gln568Arg)
|
|
|
|
NM_000181.4(GUSB):c.1729C>T (p.Arg577Cys)
|
|
|
|
NM_000181.4(GUSB):c.1792C>G (p.Pro598Ala)
|
|
|
|
NM_000181.4(GUSB):c.17C>A (p.Ala6Glu)
|
|
|
|
NM_000181.4(GUSB):c.1820G>C (p.Gly607Ala)
|
|
|
|
NM_000181.4(GUSB):c.1829C>T (p.Thr610Ile)
|
|
|
|
NM_000181.4(GUSB):c.185A>C (p.Gln62Pro)
|
|
|
|
NM_000181.4(GUSB):c.185A>G (p.Gln62Arg)
|
rs571736757
|
|
|
NM_000181.4(GUSB):c.1877A>G (p.Tyr626Cys)
|
|
|
|
NM_000181.4(GUSB):c.1886T>C (p.Ile629Thr)
|
|
|
|
NM_000181.4(GUSB):c.1927C>T (p.Gln643Ter)
|
|
|
|
NM_000181.4(GUSB):c.210+5G>A
|
|
|
|
NM_000181.4(GUSB):c.210+5G>C
|
|
|
|
NM_000181.4(GUSB):c.22G>T (p.Ala8Ser)
|
rs376505707
|
|
|
NM_000181.4(GUSB):c.230T>G (p.Met77Arg)
|
rs751845855
|
|
|
NM_000181.4(GUSB):c.238C>G (p.Pro80Ala)
|
|
|
|
NM_000181.4(GUSB):c.245G>A (p.Ser82Asn)
|
|
|
|
NM_000181.4(GUSB):c.251A>G (p.Asn84Ser)
|
|
|
|
NM_000181.4(GUSB):c.338A>G (p.Gln113Arg)
|
rs1791915416
|
|
|
NM_000181.4(GUSB):c.373A>C (p.Ser125Arg)
|
rs2116040590
|
|
|
NM_000181.4(GUSB):c.383C>T (p.Ser128Phe)
|
|
|
|
NM_000181.4(GUSB):c.38G>A (p.Gly13Glu)
|
rs1237078772
|
|
|
NM_000181.4(GUSB):c.429G>T (p.Glu143Asp)
|
|
|
|
NM_000181.4(GUSB):c.450G>C (p.Glu150Asp)
|
rs764486500
|
|
|
NM_000181.4(GUSB):c.464_475del (p.Asn155_Val159delinsMet)
|
|
|
|
NM_000181.4(GUSB):c.465C>G (p.Asn155Lys)
|
|
|
|
NM_000181.4(GUSB):c.532C>T (p.Pro178Ser)
|
rs11559281
|
|
|
NM_000181.4(GUSB):c.536C>T (p.Thr179Ile)
|
rs1427132394
|
|
|
NM_000181.4(GUSB):c.556A>C (p.Ile186Leu)
|
|
|
|
NM_000181.4(GUSB):c.581+9C>T
|
|
|
|
NM_000181.4(GUSB):c.614A>G (p.Tyr205Cys)
|
rs2116029247
|
|
|
NM_000181.4(GUSB):c.694A>G (p.Thr232Ala)
|
rs1332406445
|
|
|
NM_000181.4(GUSB):c.695C>T (p.Thr232Ile)
|
|
|
|
NM_000181.4(GUSB):c.781C>G (p.Arg261Gly)
|
|
|
|
NM_000181.4(GUSB):c.805G>C (p.Val269Leu)
|
rs755211573
|
|
|
NM_000181.4(GUSB):c.808G>A (p.Val270Met)
|
|
|
|
NM_000181.4(GUSB):c.812C>A (p.Ala271Glu)
|
|
|
|
NM_000181.4(GUSB):c.812C>T (p.Ala271Val)
|
|
|
|
NM_000181.4(GUSB):c.883G>A (p.Glu295Lys)
|
|
|
|
NM_000181.4(GUSB):c.953A>G (p.Asp318Gly)
|
|
|
|
NM_000181.4(GUSB):c.970G>A (p.Val324Met)
|
|
|
|
NM_000181.4(GUSB):c.979C>T (p.Arg327Cys)
|
|
|
|
NM_000199.5(SGSH):c.1004T>C (p.Ile335Thr)
|
|
|
|
NM_000199.5(SGSH):c.1013C>T (p.Ser338Leu)
|
|
|
|
NM_000199.5(SGSH):c.1015A>G (p.Lys339Glu)
|
|
|
|
NM_000199.5(SGSH):c.1024C>G (p.His342Asp)
|
|
|
|
NM_000199.5(SGSH):c.1027C>T (p.Leu343Phe)
|
|
|
|
NM_000199.5(SGSH):c.1043T>C (p.Leu348Pro)
|
rs886321925
|
|
|
NM_000199.5(SGSH):c.1066C>A (p.Pro356Thr)
|
|
|
|
NM_000199.5(SGSH):c.1073G>T (p.Trp358Leu)
|
|
|
|
NM_000199.5(SGSH):c.1079C>A (p.Thr360Asn)
|
|
|
|
NM_000199.5(SGSH):c.1084T>G (p.Phe362Val)
|
rs1555620294
|
|
|
NM_000199.5(SGSH):c.1090A>G (p.Ser364Gly)
|
rs2144696405
|
|
|
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg)
|
rs1434209913
|
|
|
NM_000199.5(SGSH):c.1127T>C (p.Met376Thr)
|
rs775729169
|
|
|
NM_000199.5(SGSH):c.1130G>T (p.Arg377Leu)
|
rs746037899
|
|
|
NM_000199.5(SGSH):c.1144C>T (p.Arg382Trp)
|
|
|
|
NM_000199.5(SGSH):c.1153C>T (p.Arg385Cys)
|
|
|
|
NM_000199.5(SGSH):c.1159G>C (p.Val387Leu)
|
|
|
|
NM_000199.5(SGSH):c.1159G>T (p.Val387Leu)
|
rs62620232
|
|
|
NM_000199.5(SGSH):c.1162C>T (p.His388Tyr)
|
|
|
|
NM_000199.5(SGSH):c.116C>T (p.Ala39Val)
|
|
|
|
NM_000199.5(SGSH):c.1172A>G (p.Asn391Ser)
|
rs2041614381
|
|
|
NM_000199.5(SGSH):c.1173_1178del (p.Asn391_Phe392del)
|
rs2041613993
|
|
|
NM_000199.5(SGSH):c.1183C>T (p.Pro395Ser)
|
|
|
|
NM_000199.5(SGSH):c.119ACA[2] (p.Asn42del)
|
|
|
|
NM_000199.5(SGSH):c.11C>T (p.Pro4Leu)
|
|
|
|
NM_000199.5(SGSH):c.1208A>G (p.Tyr403Cys)
|
|
|
|
NM_000199.5(SGSH):c.123C>A (p.Asn41Lys)
|
rs1230391147
|
|
|
NM_000199.5(SGSH):c.1240C>G (p.Arg414Gly)
|
|
|
|
NM_000199.5(SGSH):c.1241G>T (p.Arg414Leu)
|
|
|
|
NM_000199.5(SGSH):c.1253G>C (p.Gly418Ala)
|
|
|
|
NM_000199.5(SGSH):c.1280_1285del (p.Leu427_Arg428del)
|
rs2144692301
|
|
|
NM_000199.5(SGSH):c.1282C>T (p.Arg428Cys)
|
|
|
|
NM_000199.5(SGSH):c.1286A>T (p.His429Leu)
|
|
|
|
NM_000199.5(SGSH):c.1304G>T (p.Arg435Leu)
|
rs370528435
|
|
|
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys)
|
rs900198526
|
|
|
NM_000199.5(SGSH):c.1320C>A (p.Asp440Glu)
|
|
|
|
NM_000199.5(SGSH):c.1327C>T (p.Arg443Trp)
|
|
|
|
NM_000199.5(SGSH):c.1338C>G (p.His446Gln)
|
rs762208419
|
|
|
NM_000199.5(SGSH):c.1343C>T (p.Thr448Ile)
|
rs980620540
|
|
|
NM_000199.5(SGSH):c.1366C>T (p.Arg456Cys)
|
|
|
|
NM_000199.5(SGSH):c.1394G>A (p.Arg465Gln)
|
|
|
|
NM_000199.5(SGSH):c.1403T>C (p.Leu468Pro)
|
rs2041599125
|
|
|
NM_000199.5(SGSH):c.140C>T (p.Thr47Ile)
|
|
|
|
NM_000199.5(SGSH):c.1424C>G (p.Thr475Ser)
|
rs2144689101
|
|
|
NM_000199.5(SGSH):c.1438G>T (p.Val480Leu)
|
rs1474556145
|
|
|
NM_000199.5(SGSH):c.143C>T (p.Pro48Leu)
|
|
|
|
NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs)
|
rs1555620043
|
|
|
NM_000199.5(SGSH):c.1450G>A (p.Asp484Asn)
|
|
|
|
NM_000199.5(SGSH):c.1456G>C (p.Val486Leu)
|
rs764585957
|
|
|
NM_000199.5(SGSH):c.1462GAG[1] (p.Glu489del)
|
rs1252944094
|
|
|
NM_000199.5(SGSH):c.146A>G (p.His49Arg)
|
rs1598757846
|
|
|
NM_000199.5(SGSH):c.1474T>C (p.Ser492Pro)
|
|
|
|
NM_000199.5(SGSH):c.1481A>G (p.Gln494Arg)
|
rs562445330
|
|
|
NM_000199.5(SGSH):c.1499A>G (p.Asn500Ser)
|
rs779856036
|
|
|
NM_000199.5(SGSH):c.151G>A (p.Asp51Asn)
|
rs2144782205
|
|
|
NM_000199.5(SGSH):c.164G>A (p.Arg55His)
|
|
|
|
NM_000199.5(SGSH):c.169A>G (p.Ser57Gly)
|
|
|
|
NM_000199.5(SGSH):c.182G>A (p.Arg61His)
|
|
|
|
NM_000199.5(SGSH):c.182G>T (p.Arg61Leu)
|
|
|
|
NM_000199.5(SGSH):c.184A>G (p.Asn62Asp)
|
|
|
|
NM_000199.5(SGSH):c.185A>G (p.Asn62Ser)
|
rs1396883948
|
|
|
NM_000199.5(SGSH):c.188C>T (p.Ala63Val)
|
rs985515930
|
|
|
NM_000199.5(SGSH):c.205A>G (p.Ser69Gly)
|
|
|
|
NM_000199.5(SGSH):c.223G>T (p.Ala75Ser)
|
|
|
|
NM_000199.5(SGSH):c.232C>T (p.Leu78Phe)
|
|
|
|
NM_000199.5(SGSH):c.23G>A (p.Cys8Tyr)
|
rs2144833092
|
|
|
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr)
|
rs1385318543
|
|
|
NM_000199.5(SGSH):c.244C>T (p.Pro82Ser)
|
rs1385318543
|
|
|
NM_000199.5(SGSH):c.251A>G (p.His84Arg)
|
rs2144755254
|
|
|
NM_000199.5(SGSH):c.272T>C (p.Leu91Pro)
|
rs2144755037
|
|
|
NM_000199.5(SGSH):c.278A>G (p.Gln93Arg)
|
rs2041839563
|
|
|
NM_000199.5(SGSH):c.288C>A (p.His96Gln)
|
|
|
|
NM_000199.5(SGSH):c.299C>A (p.Ser100Tyr)
|
|
|
|
NM_000199.5(SGSH):c.299C>T (p.Ser100Phe)
|
rs2144754691
|
|
|
NM_000199.5(SGSH):c.304G>A (p.Asp102Asn)
|
|
|
|
NM_000199.5(SGSH):c.308A>G (p.Lys103Arg)
|
|
|
|
NM_000199.5(SGSH):c.313C>T (p.Arg105Trp)
|
|
|
|
NM_000199.5(SGSH):c.323C>T (p.Pro108Leu)
|
|
|
|
NM_000199.5(SGSH):c.323_331del (p.Pro108_Leu110del)
|
|
|
|
NM_000199.5(SGSH):c.335G>C (p.Ser112Thr)
|
rs773947080
|
|
|
NM_000199.5(SGSH):c.344G>C (p.Gly115Ala)
|
rs770321343
|
|
|
NM_000199.5(SGSH):c.344G>T (p.Gly115Val)
|
|
|
|
NM_000199.5(SGSH):c.350G>A (p.Arg117His)
|
|
|
|
NM_000199.5(SGSH):c.356-3C>G
|
rs1361176382
|
|
|
NM_000199.5(SGSH):c.359_360delinsAT (p.Ile120Asn)
|
|
|
|
NM_000199.5(SGSH):c.35T>G (p.Leu12Arg)
|
|
|
|
NM_000199.5(SGSH):c.376G>A (p.Val126Met)
|
rs775553760
|
|
|
NM_000199.5(SGSH):c.376G>C (p.Val126Leu)
|
rs775553760
|
|
|
NM_000199.5(SGSH):c.380G>A (p.Gly127Glu)
|
|
|
|
NM_000199.5(SGSH):c.385G>C (p.Glu129Gln)
|
|
|
|
NM_000199.5(SGSH):c.389C>T (p.Thr130Ile)
|
|
|
|
NM_000199.5(SGSH):c.398C>T (p.Pro133Leu)
|
rs781743238
|
|
|
NM_000199.5(SGSH):c.406T>A (p.Phe136Ile)
|
|
|
|
NM_000199.5(SGSH):c.415A>T (p.Thr139Ser)
|
rs760564328
|
|
|
NM_000199.5(SGSH):c.430T>A (p.Ser144Thr)
|
|
|
|
NM_000199.5(SGSH):c.433G>A (p.Val145Ile)
|
|
|
|
NM_000199.5(SGSH):c.479G>A (p.Arg160Gln)
|
|
|
|
NM_000199.5(SGSH):c.479G>T (p.Arg160Leu)
|
|
|
|
NM_000199.5(SGSH):c.483A>G (p.Lys161=)
|
rs2144748407
|
|
|
NM_000199.5(SGSH):c.506+3A>G
|
rs1460108613
|
|
|
NM_000199.5(SGSH):c.508C>G (p.Pro170Ala)
|
|
|
|
NM_000199.5(SGSH):c.526G>A (p.Ala176Thr)
|
|
|
|
NM_000199.5(SGSH):c.527C>G (p.Ala176Gly)
|
rs760996554
|
|
|
NM_000199.5(SGSH):c.52T>G (p.Cys18Gly)
|
rs1171316652
|
|
|
NM_000199.5(SGSH):c.532C>G (p.His178Asp)
|
rs1598748596
|
|
|
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
|
|
|
|
NM_000199.5(SGSH):c.563C>T (p.Pro188Leu)
|
|
|
|
NM_000199.5(SGSH):c.580T>C (p.Cys194Arg)
|
|
|
|
NM_000199.5(SGSH):c.58G>C (p.Ala20Pro)
|
|
|
|
NM_000199.5(SGSH):c.607G>A (p.Gly203Ser)
|
|
|
|
NM_000199.5(SGSH):c.617G>A (p.Arg206His)
|
|
|
|
NM_000199.5(SGSH):c.61C>A (p.Arg21Ser)
|
|
|
|
NM_000199.5(SGSH):c.622C>T (p.Pro208Ser)
|
|
|
|
NM_000199.5(SGSH):c.628T>C (p.Trp210Arg)
|
rs1268158872
|
|
|
NM_000199.5(SGSH):c.632C>T (p.Thr211Ile)
|
|
|
|
NM_000199.5(SGSH):c.637C>G (p.Gln213Glu)
|
|
|
|
NM_000199.5(SGSH):c.643T>C (p.Tyr215His)
|
|
|
|
NM_000199.5(SGSH):c.658G>A (p.Val220Met)
|
rs150508741
|
|
|
NM_000199.5(SGSH):c.658G>C (p.Val220Leu)
|
rs150508741
|
|
|
NM_000199.5(SGSH):c.659T>G (p.Val220Gly)
|
rs2144741986
|
|
|
NM_000199.5(SGSH):c.663+3A>G
|
rs2144741879
|
|
|
NM_000199.5(SGSH):c.663+3dup
|
|
|
|
NM_000199.5(SGSH):c.67C>G (p.Arg23Gly)
|
|
|
|
NM_000199.5(SGSH):c.697C>G (p.Arg233Gly)
|
rs374621913
|
|
|
NM_000199.5(SGSH):c.712G>A (p.Ala238Thr)
|
|
|
|
NM_000199.5(SGSH):c.721A>G (p.Thr241Ala)
|
|
|
|
NM_000199.5(SGSH):c.722C>T (p.Thr241Ile)
|
rs774439487
|
|
|
NM_000199.5(SGSH):c.726C>T (p.Thr242=)
|
rs1347877363
|
|
|
NM_000199.5(SGSH):c.736A>G (p.Met246Val)
|
|
|
|
NM_000199.5(SGSH):c.745G>A (p.Gly249Arg)
|
|
|
|
NM_000199.5(SGSH):c.746-5_746-4inv
|
|
|
|
NM_000199.5(SGSH):c.746-6C>G
|
|
|
|
NM_000199.5(SGSH):c.748G>T (p.Val250Phe)
|
rs1481986186
|
|
|
NM_000199.5(SGSH):c.749T>A (p.Val250Asp)
|
rs765180942
|
|
|
NM_000199.5(SGSH):c.751G>A (p.Gly251Arg)
|
|
|
|
NM_000199.5(SGSH):c.772C>T (p.Arg258Cys)
|
|
|
|
NM_000199.5(SGSH):c.778G>A (p.Ala260Thr)
|
|
|
|
NM_000199.5(SGSH):c.784G>A (p.Val262Ile)
|
|
|
|
NM_000199.5(SGSH):c.793G>A (p.Asp265Asn)
|
rs1350874932
|
|
|
NM_000199.5(SGSH):c.803T>C (p.Val268Ala)
|
|
|
|
NM_000199.5(SGSH):c.821A>G (p.Asn274Ser)
|
rs2144716819
|
|
|
NM_000199.5(SGSH):c.828C>G (p.Ile276Met)
|
rs2041694208
|
|
|
NM_000199.5(SGSH):c.841G>A (p.Gly281Ser)
|
|
|
|
NM_000199.5(SGSH):c.863C>T (p.Pro288Leu)
|
|
|
|
NM_000199.5(SGSH):c.87C>A (p.Leu29=)
|
|
|
|
NM_000199.5(SGSH):c.88+5G>C
|
rs2144831735
|
|
|
NM_000199.5(SGSH):c.88G>A (p.Ala30Thr)
|
|
|
|
NM_000199.5(SGSH):c.88G>T (p.Ala30Ser)
|
|
|
|
NM_000199.5(SGSH):c.899A>C (p.Glu300Ala)
|
|
|
|
NM_000199.5(SGSH):c.90G>A (p.Ala30=)
|
|
|
|
NM_000199.5(SGSH):c.910C>T (p.Arg304Cys)
|
|
|
|
NM_000199.5(SGSH):c.911G>A (p.Arg304His)
|
|
|
|
NM_000199.5(SGSH):c.911G>C (p.Arg304Pro)
|
|
|
|
NM_000199.5(SGSH):c.916G>T (p.Gly306Cys)
|
rs1598742412
|
|
|
NM_000199.5(SGSH):c.928G>A (p.Glu310Lys)
|
|
|
|
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp)
|
rs753934983
|
|
|
NM_000199.5(SGSH):c.935A>G (p.Tyr312Cys)
|
|
|
|
NM_000199.5(SGSH):c.935A>T (p.Tyr312Phe)
|
|
|
|
NM_000199.5(SGSH):c.937G>C (p.Val313Leu)
|
rs769385447
|
|
|
NM_000199.5(SGSH):c.941G>A (p.Ser314Asn)
|
|
|
|
NM_000199.5(SGSH):c.949+4_949+5insA
|
|
|
|
NM_000199.5(SGSH):c.952C>A (p.Leu318Ile)
|
rs747197522
|
|
|
NM_000199.5(SGSH):c.952C>T (p.Leu318Phe)
|
|
|
|
NM_000199.5(SGSH):c.956C>T (p.Thr319Met)
|
|
|
|
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala)
|
rs758756630
|
|
|
NM_000199.5(SGSH):c.962C>T (p.Thr321Ile)
|
rs2144699541
|
|
|
NM_000199.5(SGSH):c.96C>A (p.Asp32Glu)
|
rs139850991
|
|
|
NM_000199.5(SGSH):c.980C>T (p.Ser327Leu)
|
|
|
|
NM_000202.8(IDS):c.1018G>A (p.Gly340Ser)
|
|
|
|
NM_000202.8(IDS):c.101C>A (p.Thr34Lys)
|
|
|
|
NM_000202.8(IDS):c.1057G>T (p.Val353Phe)
|
|
|
|
NM_000202.8(IDS):c.106G>A (p.Ala36Thr)
|
|
|
|
NM_000202.8(IDS):c.1072C>A (p.Pro358Thr)
|
|
|
|
NM_000202.8(IDS):c.1090C>G (p.Pro364Ala)
|
|
|
|
NM_000202.8(IDS):c.1090C>T (p.Pro364Ser)
|
rs2124005937
|
|
|
NM_000202.8(IDS):c.1121G>T (p.Gly374Val)
|
rs2124005760
|
|
|
NM_000202.8(IDS):c.1147C>A (p.Pro383Thr)
|
rs2089341258
|
|
|
NM_000202.8(IDS):c.1177C>G (p.Pro393Ala)
|
|
|
|
NM_000202.8(IDS):c.1199T>C (p.Leu400Pro)
|
|
|
|
NM_000202.8(IDS):c.1207C>G (p.Leu403Val)
|
|
|
|
NM_000202.8(IDS):c.1214C>T (p.Ser405Phe)
|
|
|
|
NM_000202.8(IDS):c.124A>G (p.Ile42Val)
|
rs2089505177
|
|
|
NM_000202.8(IDS):c.1253T>C (p.Val418Ala)
|
|
|
|
NM_000202.8(IDS):c.1255C>A (p.Pro419Thr)
|
|
|
|
NM_000202.8(IDS):c.1295G>T (p.Cys432Phe)
|
|
|
|
NM_000202.8(IDS):c.1303G>T (p.Gly435Cys)
|
|
|
|
NM_000202.8(IDS):c.1327C>G (p.Arg443Gly)
|
|
|
|
NM_000202.8(IDS):c.1350T>A (p.Asp450Glu)
|
rs2123994624
|
|
|
NM_000202.8(IDS):c.1364G>T (p.Gly455Val)
|
|
|
|
NM_000202.8(IDS):c.1373G>A (p.Arg458His)
|
|
|
|
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)
|
|
|
|
NM_000202.8(IDS):c.1411G>A (p.Asp471Asn)
|
|
|
|
NM_000202.8(IDS):c.1417C>T (p.Pro473Ser)
|
rs2123994315
|
|
|
NM_000202.8(IDS):c.142C>T (p.Arg48Cys)
|
|
|
|
NM_000202.8(IDS):c.1447A>G (p.Lys483Glu)
|
rs2123994225
|
|
|
NM_000202.8(IDS):c.1466G>C (p.Gly489Ala)
|
rs104894863
|
|
|
NM_000202.8(IDS):c.1472C>A (p.Ser491Tyr)
|
|
|
|
NM_000202.8(IDS):c.1498A>G (p.Thr500Ala)
|
|
|
|
NM_000202.8(IDS):c.1504T>A (p.Trp502Arg)
|
|
|
|
NM_000202.8(IDS):c.1610A>G (p.Asn537Ser)
|
|
|
|
NM_000202.8(IDS):c.1621G>T (p.Gly541Cys)
|
|
|
|
NM_000202.8(IDS):c.1630C>A (p.Leu544Ile)
|
|
|
|
NM_000202.8(IDS):c.1649C>A (p.Pro550His)
|
|
|
|
NM_000202.8(IDS):c.166G>A (p.Asp56Asn)
|
|
|
|
NM_000202.8(IDS):c.214CTC[1] (p.Leu73del)
|
|
|
|
NM_000202.8(IDS):c.227A>G (p.Asn76Ser)
|
|
|
|
NM_000202.8(IDS):c.240+3A>G
|
rs2124065632
|
|
|
NM_000202.8(IDS):c.241-4A>G
|
|
|
|
NM_000202.8(IDS):c.248T>G (p.Val83Gly)
|
rs1569560525
|
|
|
NM_000202.8(IDS):c.28C>T (p.Leu10Phe)
|
|
|
|
NM_000202.8(IDS):c.331G>C (p.Val111Leu)
|
rs1602748386
|
|
|
NM_000202.8(IDS):c.337G>A (p.Ala113Thr)
|
|
|
|
NM_000202.8(IDS):c.346T>G (p.Phe116Val)
|
rs2124063192
|
|
|
NM_000202.8(IDS):c.364T>G (p.Tyr122Asp)
|
|
|
|
NM_000202.8(IDS):c.380G>A (p.Gly127Asp)
|
|
|
|
NM_000202.8(IDS):c.383A>C (p.Tyr128Ser)
|
rs2124063021
|
|
|
NM_000202.8(IDS):c.388A>G (p.Thr130Ala)
|
|
|
|
NM_000202.8(IDS):c.389C>T (p.Thr130Ile)
|
rs1557340233
|
|
|
NM_000202.8(IDS):c.418+6_418+7del
|
|
|
|
NM_000202.8(IDS):c.419-3A>G
|
|
|
|
NM_000202.8(IDS):c.421A>G (p.Ile141Val)
|
|
|
|
NM_000202.8(IDS):c.469C>T (p.Pro157Ser)
|
rs864622774
|
|
|
NM_000202.8(IDS):c.482C>G (p.Ser161Cys)
|
|
|
|
NM_000202.8(IDS):c.500A>G (p.Asn167Ser)
|
|
|
|
NM_000202.8(IDS):c.551G>A (p.Cys184Tyr)
|
|
|
|
NM_000202.8(IDS):c.553C>T (p.Pro185Ser)
|
|
|
|
NM_000202.8(IDS):c.577G>C (p.Glu193Gln)
|
|
|
|
NM_000202.8(IDS):c.58G>C (p.Val20Leu)
|
|
|
|
NM_000202.8(IDS):c.608A>T (p.Glu203Val)
|
rs2124046817
|
|
|
NM_000202.8(IDS):c.64G>A (p.Val22Ile)
|
|
|
|
NM_000202.8(IDS):c.674A>G (p.Tyr225Cys)
|
|
|
|
NM_000202.8(IDS):c.699A>G (p.Arg233=)
|
|
|
|
NM_000202.8(IDS):c.708+6G>T
|
|
|
|
NM_000202.8(IDS):c.749C>T (p.Ala250Val)
|
|
|
|
NM_000202.8(IDS):c.754G>T (p.Asp252Tyr)
|
rs146458524
|
|
|
NM_000202.8(IDS):c.771T>A (p.Asp257Glu)
|
|
|
|
NM_000202.8(IDS):c.773G>A (p.Gly258Asp)
|
rs2124041717
|
|
|
NM_000202.8(IDS):c.781C>T (p.Pro261Ser)
|
rs141720810
|
|
|
NM_000202.8(IDS):c.782C>T (p.Pro261Leu)
|
|
|
|
NM_000202.8(IDS):c.806A>G (p.Asp269Gly)
|
rs1085308006
|
|
|
NM_000202.8(IDS):c.833C>T (p.Ala278Val)
|
|
|
|
NM_000202.8(IDS):c.866C>T (p.Pro289Leu)
|
|
|
|
NM_000202.8(IDS):c.876T>G (p.Phe292Leu)
|
|
|
|
NM_000202.8(IDS):c.878A>G (p.Gln293Arg)
|
rs2089435877
|
|
|
NM_000202.8(IDS):c.880C>T (p.Arg294Trp)
|
|
|
|
NM_000202.8(IDS):c.890G>A (p.Arg297His)
|
|
|
|
NM_000202.8(IDS):c.898T>G (p.Tyr300Asp)
|
rs2089380312
|
|
|
NM_000202.8(IDS):c.931G>T (p.Val311Phe)
|
|
|
|
NM_000202.8(IDS):c.958G>A (p.Asp320Asn)
|
rs2089379111
|
|
|
NM_000202.8(IDS):c.970G>A (p.Ala324Thr)
|
|
|
|
NM_000202.8(IDS):c.98C>T (p.Thr33Ile)
|
|
|
|
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys)
|
rs370442463
|
|
|
NM_000203.5(IDUA):c.1007A>C (p.Asn336Thr)
|
|
|
|
NM_000203.5(IDUA):c.1016C>T (p.Ser339Phe)
|
|
|
|
NM_000203.5(IDUA):c.1033C>T (p.Leu345Phe)
|
|
|
|
NM_000203.5(IDUA):c.1042_1062dup (p.Ser354_Tyr355insAsnAspAsnAlaPheLeuSer)
|
|
|
|
NM_000203.5(IDUA):c.1048A>G (p.Asn350Asp)
|
|
|
|
NM_000203.5(IDUA):c.1090A>G (p.Thr364Ala)
|
rs1216054018
|
|
|
NM_000203.5(IDUA):c.1099_1100delinsTT (p.Ala367Leu)
|
|
|
|
NM_000203.5(IDUA):c.1105T>C (p.Phe369Leu)
|
rs1715147247
|
|
|
NM_000203.5(IDUA):c.1109A>G (p.Gln370Arg)
|
|
|
|
NM_000203.5(IDUA):c.1115ACA[1] (p.Asn373del)
|
rs1715148258
|
|
|
NM_000203.5(IDUA):c.1123C>T (p.Arg375Cys)
|
|
|
|
NM_000203.5(IDUA):c.1140G>T (p.Gln380His)
|
|
|
|
NM_000203.5(IDUA):c.1152G>C (p.Lys384Asn)
|
rs1244370377
|
|
|
NM_000203.5(IDUA):c.1153C>T (p.Pro385Ser)
|
|
|
|
NM_000203.5(IDUA):c.1183CTG[1] (p.Leu396del)
|
|
|
|
NM_000203.5(IDUA):c.1188G>A (p.Leu396=)
|
rs747406598
|
|
|
NM_000203.5(IDUA):c.1213G>A (p.Val405Met)
|
|
|
|
NM_000203.5(IDUA):c.1214T>G (p.Val405Gly)
|
|
|
|
NM_000203.5(IDUA):c.1228A>C (p.Thr410Pro)
|
|
|
|
NM_000203.5(IDUA):c.1230_1257delinsG (p.Asp413_Leu421del)
|
rs1553917376
|
|
|
NM_000203.5(IDUA):c.1238_1264del (p.Asp413_Leu421del)
|
rs1168660379
|
|
|
NM_000203.5(IDUA):c.1244A>G (p.Asn415Ser)
|
|
|
|
NM_000203.5(IDUA):c.1258G>T (p.Val420Phe)
|
|
|
|
NM_000203.5(IDUA):c.1303C>G (p.Arg435Gly)
|
rs1188900288
|
|
|
NM_000203.5(IDUA):c.1303C>T (p.Arg435Cys)
|
|
|
|
NM_000203.5(IDUA):c.1309G>C (p.Ala437Pro)
|
|
|
|
NM_000203.5(IDUA):c.1331A>G (p.Asp444Gly)
|
|
|
|
NM_000203.5(IDUA):c.1331_1342dup (p.Arg447_Ala448insAspAspThrArg)
|
|
|
|
NM_000203.5(IDUA):c.1334A>G (p.Asp445Gly)
|
|
|
|
NM_000203.5(IDUA):c.1340G>A (p.Arg447His)
|
|
|
|
NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg)
|
rs895626490
|
|
|
NM_000203.5(IDUA):c.134G>C (p.Arg45Pro)
|
rs1448806369
|
|
|
NM_000203.5(IDUA):c.1358G>A (p.Ser453Asn)
|
rs2153022656
|
|
|
NM_000203.5(IDUA):c.1375C>T (p.Arg459Trp)
|
rs2153022668
|
|
|
NM_000203.5(IDUA):c.1376G>T (p.Arg459Leu)
|
rs1715193201
|
|
|
NM_000203.5(IDUA):c.1387G>C (p.Val463Leu)
|
|
|
|
NM_000203.5(IDUA):c.1390C>G (p.Pro464Ala)
|
rs888528622
|
|
|
NM_000203.5(IDUA):c.1391C>T (p.Pro464Leu)
|
|
|
|
NM_000203.5(IDUA):c.1402+5G>A
|
|
|
|
NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del)
|
rs1553917455
|
|
|
NM_000203.5(IDUA):c.142A>G (p.Arg48Gly)
|
rs2153015259
|
|
|
NM_000203.5(IDUA):c.1435G>A (p.Gly479Arg)
|
|
|
|
NM_000203.5(IDUA):c.143G>A (p.Arg48Lys)
|
|
|
|
NM_000203.5(IDUA):c.1447C>A (p.Pro483Thr)
|
|
|
|
NM_000203.5(IDUA):c.1474C>T (p.Arg492Trp)
|
rs778314567
|
|
|
NM_000203.5(IDUA):c.1475G>T (p.Arg492Leu)
|
|
|
|
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
|
rs375819348
|
|
|
NM_000203.5(IDUA):c.1478C>T (p.Pro493Leu)
|
|
|
|
NM_000203.5(IDUA):c.1483T>C (p.Phe495Leu)
|
|
|
|
NM_000203.5(IDUA):c.1485C>A (p.Phe495Leu)
|
|
|
|
NM_000203.5(IDUA):c.1489A>G (p.Thr497Ala)
|
|
|
|
NM_000203.5(IDUA):c.1498C>G (p.Gln500Glu)
|
|
|
|
NM_000203.5(IDUA):c.1503C>A (p.Phe501Leu)
|
|
|
|
NM_000203.5(IDUA):c.1504C>T (p.Arg502Trp)
|
|
|
|
NM_000203.5(IDUA):c.1505G>A (p.Arg502Gln)
|
rs769566506
|
|
|
NM_000203.5(IDUA):c.1507C>T (p.Arg503Cys)
|
|
|
|
NM_000203.5(IDUA):c.1509_1511del (p.Met504del)
|
|
|
|
NM_000203.5(IDUA):c.1537_1538delinsTT (p.Ala513Leu)
|
|
|
|
NM_000203.5(IDUA):c.1543C>T (p.Pro515Ser)
|
|
|
|
NM_000203.5(IDUA):c.1547G>A (p.Arg516His)
|
|
|
|
NM_000203.5(IDUA):c.1550C>G (p.Pro517Arg)
|
|
|
|
NM_000203.5(IDUA):c.1550C>T (p.Pro517Leu)
|
rs1051249739
|
|
|
NM_000203.5(IDUA):c.1558G>C (p.Ala520Pro)
|
|
|
|
NM_000203.5(IDUA):c.1561G>A (p.Gly521Ser)
|
|
|
|
NM_000203.5(IDUA):c.1568G>T (p.Arg523Leu)
|
|
|
|
NM_000203.5(IDUA):c.1588C>A (p.Leu530Met)
|
rs749053703
|
|
|
NM_000203.5(IDUA):c.158G>C (p.Cys53Ser)
|
|
|
|
NM_000203.5(IDUA):c.1592G>A (p.Arg531Gln)
|
|
|
|
NM_000203.5(IDUA):c.161C>T (p.Pro54Leu)
|
rs2153015595
|
|
|
NM_000203.5(IDUA):c.1627C>A (p.Arg543Ser)
|
|
|
|
NM_000203.5(IDUA):c.1628G>A (p.Arg543His)
|
|
|
|
NM_000203.5(IDUA):c.1658G>T (p.Arg553Leu)
|
|
|
|
NM_000203.5(IDUA):c.1664G>A (p.Arg555His)
|
|
|
|
NM_000203.5(IDUA):c.1666G>A (p.Ala556Thr)
|
|
|
|
NM_000203.5(IDUA):c.1666G>C (p.Ala556Pro)
|
rs771540729
|
|
|
NM_000203.5(IDUA):c.1670T>A (p.Leu557Gln)
|
rs2153023010
|
|
|
NM_000203.5(IDUA):c.1679C>A (p.Thr560Asn)
|
rs773249605
|
|
|
NM_000203.5(IDUA):c.1679C>T (p.Thr560Ile)
|
|
|
|
NM_000203.5(IDUA):c.167T>C (p.Leu56Pro)
|
rs2153015609
|
|
|
NM_000203.5(IDUA):c.1694T>C (p.Val565Ala)
|
|
|
|
NM_000203.5(IDUA):c.1724C>T (p.Ser575Phe)
|
|
|
|
NM_000203.5(IDUA):c.1727+6T>A
|
|
|
|
NM_000203.5(IDUA):c.1728-3C>G
|
|
|
|
NM_000203.5(IDUA):c.1765G>T (p.Gly589Cys)
|
rs144941693
|
|
|
NM_000203.5(IDUA):c.1784T>G (p.Val595Gly)
|
|
|
|
NM_000203.5(IDUA):c.1799C>G (p.Ser600Trp)
|
|
|
|
NM_000203.5(IDUA):c.179A>C (p.Gln60Pro)
|
|
|
|
NM_000203.5(IDUA):c.179A>G (p.Gln60Arg)
|
|
|
|
NM_000203.5(IDUA):c.1828+4C>T
|
|
|
|
NM_000203.5(IDUA):c.1829-3C>T
|
|
|
|
NM_000203.5(IDUA):c.1862G>A (p.Arg621Gln)
|
|
|
|
NM_000203.5(IDUA):c.1862G>C (p.Arg621Pro)
|
rs762399936
|
|
|
NM_000203.5(IDUA):c.1888G>A (p.Gly630Ser)
|
rs1553917753
|
|
|
NM_000203.5(IDUA):c.1894T>A (p.Phe632Ile)
|
rs2153023304
|
|
|
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)
|
rs1715314710
|
|
|
NM_000203.5(IDUA):c.1910C>G (p.Pro637Arg)
|
|
|
|
NM_000203.5(IDUA):c.1928T>C (p.Val643Ala)
|
|
|
|
NM_000203.5(IDUA):c.1938_1947dup (p.Pro650fs)
|
|
|
|
NM_000203.5(IDUA):c.1938del (p.Pro648fs)
|
|
|
|
NM_000203.5(IDUA):c.1942C>T (p.Pro648Ser)
|
|
|
|
NM_000203.5(IDUA):c.1946C>T (p.Ser649Phe)
|
|
|
|
NM_000203.5(IDUA):c.1952G>A (p.Gly651Asp)
|
rs750609855
|
|
|
NM_000203.5(IDUA):c.1955A>G (p.Asn652Ser)
|
|
|
|
NM_000203.5(IDUA):c.199A>G (p.Ser67Gly)
|
rs370442463
|
|
|
NM_000203.5(IDUA):c.22G>T (p.Ala8Ser)
|
rs1441549249
|
|
|
NM_000203.5(IDUA):c.230T>C (p.Val77Ala)
|
rs1560532674
|
|
|
NM_000203.5(IDUA):c.241C>T (p.Pro81Ser)
|
|
|
|
NM_000203.5(IDUA):c.247C>T (p.Arg83Cys)
|
rs771733089
|
|
|
NM_000203.5(IDUA):c.250G>A (p.Gly84Ser)
|
rs564306004
|
|
|
NM_000203.5(IDUA):c.251G>C (p.Gly84Ala)
|
|
|
|
NM_000203.5(IDUA):c.25_26delinsAT (p.Ala9Met)
|
|
|
|
NM_000203.5(IDUA):c.269C>T (p.Thr90Ile)
|
|
|
|
NM_000203.5(IDUA):c.26C>G (p.Ala9Gly)
|
rs1369414449
|
|
|
NM_000203.5(IDUA):c.287T>G (p.Leu96Arg)
|
rs1713872403
|
|
|
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)
|
|
|
|
NM_000203.5(IDUA):c.301G>A (p.Gly101Arg)
|
rs2153021609
|
|
|
NM_000203.5(IDUA):c.313C>T (p.Arg105Trp)
|
|
|
|
NM_000203.5(IDUA):c.314G>C (p.Arg105Pro)
|
|
|
|
NM_000203.5(IDUA):c.316G>C (p.Gly106Arg)
|
|
|
|
NM_000203.5(IDUA):c.322A>T (p.Ser108Cys)
|
rs1715015091
|
|
|
NM_000203.5(IDUA):c.356A>C (p.Asp119Ala)
|
|
|
|
NM_000203.5(IDUA):c.36_44dup (p.Ala15_Ser16insLeuLeuAla)
|
|
|
|
NM_000203.5(IDUA):c.399G>C (p.Met133Ile)
|
rs558683362
|
|
|
NM_000203.5(IDUA):c.410C>G (p.Ser137Trp)
|
rs769949390
|
|
|
NM_000203.5(IDUA):c.410C>T (p.Ser137Leu)
|
rs769949390
|
|
|
NM_000203.5(IDUA):c.413G>A (p.Gly138Asp)
|
rs866656054
|
|
|
NM_000203.5(IDUA):c.416A>C (p.His139Pro)
|
rs2153021706
|
|
|
NM_000203.5(IDUA):c.438G>C (p.Lys146Asn)
|
|
|
|
NM_000203.5(IDUA):c.452A>G (p.Glu151Gly)
|
|
|
|
NM_000203.5(IDUA):c.462C>G (p.Asp154Glu)
|
rs2153021723
|
|
|
NM_000203.5(IDUA):c.46_57dup (p.Ala19_Ala20insSerLeuLeuAla)
|
|
|
|
NM_000203.5(IDUA):c.471C>T (p.Ser157=)
|
|
|
|
NM_000203.5(IDUA):c.493+4G>A
|
|
|
|
NM_000203.5(IDUA):c.493+6C>G
|
rs376738689
|
|
|
NM_000203.5(IDUA):c.493+6C>T
|
rs376738689
|
|
|
NM_000203.5(IDUA):c.493G>C (p.Gly165Arg)
|
rs748326989
|
|
|
NM_000203.5(IDUA):c.502G>C (p.Gly168Arg)
|
rs753308650
|
|
|
NM_000203.5(IDUA):c.509C>T (p.Ala170Val)
|
|
|
|
NM_000203.5(IDUA):c.512A>G (p.His171Arg)
|
|
|
|
NM_000203.5(IDUA):c.532G>C (p.Glu178Gln)
|
|
|
|
NM_000203.5(IDUA):c.553C>G (p.His185Asp)
|
|
|
|
NM_000203.5(IDUA):c.556C>T (p.His186Tyr)
|
|
|
|
NM_000203.5(IDUA):c.569A>G (p.Asn190Ser)
|
|
|
|
NM_000203.5(IDUA):c.575C>G (p.Ser192Cys)
|
rs1189807498
|
|
|
NM_000203.5(IDUA):c.579G>A (p.Met193Ile)
|
rs2153021918
|
|
|
NM_000203.5(IDUA):c.5G>C (p.Arg2Pro)
|
|
|
|
NM_000203.5(IDUA):c.60_61delinsAT (p.Pro21Ser)
|
|
|
|
NM_000203.5(IDUA):c.613T>A (p.Cys205Ser)
|
|
|
|
NM_000203.5(IDUA):c.61C>A (p.Pro21Thr)
|
|
|
|
NM_000203.5(IDUA):c.621G>T (p.Glu207Asp)
|
|
|
|
NM_000203.5(IDUA):c.629G>A (p.Arg210His)
|
|
|
|
NM_000203.5(IDUA):c.629_630delinsAG (p.Arg210Gln)
|
|
|
|
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup)
|
rs760582777
|
|
|
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup)
|
rs764105238
|
|
|
NM_000203.5(IDUA):c.641C>G (p.Pro214Arg)
|
|
|
|
NM_000203.5(IDUA):c.655G>C (p.Gly219Arg)
|
|
|
|
NM_000203.5(IDUA):c.667G>T (p.Asp223Tyr)
|
rs183347428
|
|
|
NM_000203.5(IDUA):c.669C>G (p.Asp223Glu)
|
|
|
|
NM_000203.5(IDUA):c.670T>C (p.Ser224Pro)
|
|
|
|
NM_000203.5(IDUA):c.709C>G (p.Leu237Val)
|
|
|
|
NM_000203.5(IDUA):c.720C>G (p.His240Gln)
|
rs1715096917
|
|
|
NM_000203.5(IDUA):c.727G>A (p.Asp243Asn)
|
rs1460797649
|
|
|
NM_000203.5(IDUA):c.734C>T (p.Thr245Ile)
|
rs1226615259
|
|
|
NM_000203.5(IDUA):c.741C>A (p.Phe247Leu)
|
|
|
|
NM_000203.5(IDUA):c.746C>T (p.Thr249Ile)
|
|
|
|
NM_000203.5(IDUA):c.74C>T (p.Pro25Leu)
|
|
|
|
NM_000203.5(IDUA):c.775A>C (p.Ile259Leu)
|
rs2153022099
|
|
|
NM_000203.5(IDUA):c.793-9C>A
|
|
|
|
NM_000203.5(IDUA):c.794G>A (p.Gly265Asp)
|
|
|
|
NM_000203.5(IDUA):c.826_828del (p.Glu276del)
|
|
|
|
NM_000203.5(IDUA):c.828G>C (p.Glu276Asp)
|
|
|
|
NM_000203.5(IDUA):c.86C>G (p.Pro29Arg)
|
|
|
|
NM_000203.5(IDUA):c.870C>A (p.Phe290Leu)
|
rs1715117568
|
|
|
NM_000203.5(IDUA):c.894C>A (p.Asp298Glu)
|
|
|
|
NM_000203.5(IDUA):c.8C>A (p.Pro3His)
|
|
|
|
NM_000203.5(IDUA):c.904C>A (p.Pro302Thr)
|
rs1715120993
|
|
|
NM_000203.5(IDUA):c.916T>G (p.Trp306Gly)
|
|
|
|
NM_000203.5(IDUA):c.917G>T (p.Trp306Leu)
|
|
|
|
NM_000203.5(IDUA):c.920C>T (p.Ser307Phe)
|
|
|
|
NM_000203.5(IDUA):c.932C>G (p.Pro311Arg)
|
|
|
|
NM_000203.5(IDUA):c.940G>A (p.Ala314Thr)
|
rs1715123919
|
|
|
NM_000203.5(IDUA):c.94G>T (p.Val32Leu)
|
rs566741452
|
|
|
NM_000203.5(IDUA):c.950C>T (p.Thr317Ile)
|
|
|
|
NM_000203.5(IDUA):c.952T>C (p.Tyr318His)
|
|
|
|
NM_000203.5(IDUA):c.958G>A (p.Ala320Thr)
|
|
|
|
NM_000203.5(IDUA):c.973-13T>G
|
|
|
|
NM_000203.5(IDUA):c.977T>C (p.Ile326Thr)
|
rs1461992821
|
|
|
NM_000203.5(IDUA):c.984G>C (p.Gln328His)
|
|
|
|
NM_000262.3(NAGA):c.1009G>A (p.Ala337Thr)
|
|
|
|
NM_000262.3(NAGA):c.1036G>A (p.Asp346Asn)
|
|
|
|
NM_000262.3(NAGA):c.104G>A (p.Arg35His)
|
rs1926874320
|
|
|
NM_000262.3(NAGA):c.1066G>A (p.Gly356Ser)
|
|
|
|
NM_000262.3(NAGA):c.1141C>T (p.Arg381Ter)
|
|
|
|
NM_000262.3(NAGA):c.1172A>C (p.Asn391Thr)
|
rs752717782
|
|
|
NM_000262.3(NAGA):c.1172A>G (p.Asn391Ser)
|
|
|
|
NM_000262.3(NAGA):c.1208T>C (p.Ile403Thr)
|
|
|
|
NM_000262.3(NAGA):c.1224_1225insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTGGAGATG (p.Ser409fs)
|
rs1926286045
|
|
|
NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr)
|
rs1569456853
|
|
|
NM_000262.3(NAGA):c.123C>G (p.Asn41Lys)
|
|
|
|
NM_000262.3(NAGA):c.16G>A (p.Val6Met)
|
rs1602499597
|
|
|
NM_000262.3(NAGA):c.256G>A (p.Asp86Asn)
|
|
|
|
NM_000262.3(NAGA):c.289C>G (p.Arg97Gly)
|
rs140775168
|
|
|
NM_000262.3(NAGA):c.295C>G (p.Pro99Ala)
|
|
|
|
NM_000262.3(NAGA):c.314T>A (p.Leu105Gln)
|
|
|
|
NM_000262.3(NAGA):c.337G>T (p.Gly113Cys)
|
|
|
|
NM_000262.3(NAGA):c.365T>C (p.Met122Thr)
|
rs1435943514
|
|
|
NM_000262.3(NAGA):c.406G>C (p.Asp136His)
|
rs186173534
|
|
|
NM_000262.3(NAGA):c.491A>C (p.Glu164Ala)
|
|
|
|
NM_000262.3(NAGA):c.541C>T (p.Arg181Cys)
|
|
|
|
NM_000262.3(NAGA):c.563G>C (p.Ser188Thr)
|
|
|
|
NM_000262.3(NAGA):c.592C>T (p.Pro198Ser)
|
rs139027070
|
|
|
NM_000262.3(NAGA):c.730G>A (p.Gly244Ser)
|
|
|
|
NM_000262.3(NAGA):c.759+17G>T
|
|
|
|
NM_000262.3(NAGA):c.819G>T (p.Trp273Cys)
|
|
|
|
NM_000262.3(NAGA):c.833C>T (p.Ala278Val)
|
rs762474603
|
|
|
NM_000262.3(NAGA):c.838C>G (p.Leu280Val)
|
|
|
|
NM_000262.3(NAGA):c.91C>G (p.Leu31Val)
|
|
|
|
NM_000262.3(NAGA):c.925C>T (p.Pro309Ser)
|
|
|
|
NM_000263.4(NAGLU):c.1016C>T (p.Thr339Ile)
|
|
|
|
NM_000263.4(NAGLU):c.1041G>T (p.Trp347Cys)
|
|
|
|
NM_000263.4(NAGLU):c.1052G>C (p.Gly351Ala)
|
|
|
|
NM_000263.4(NAGLU):c.1057C>G (p.Leu353Val)
|
|
|
|
NM_000263.4(NAGLU):c.1072C>T (p.Pro358Ser)
|
|
|
|
NM_000263.4(NAGLU):c.1090G>A (p.Ala364Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser)
|
rs1459252305
|
|
|
NM_000263.4(NAGLU):c.1106T>C (p.Val369Ala)
|
rs2143107785
|
|
|
NM_000263.4(NAGLU):c.1112G>A (p.Gly371Glu)
|
|
|
|
NM_000263.4(NAGLU):c.1123C>T (p.Arg375Cys)
|
|
|
|
NM_000263.4(NAGLU):c.1132C>T (p.Leu378Phe)
|
rs2143107974
|
|
|
NM_000263.4(NAGLU):c.1141C>G (p.Leu381Val)
|
|
|
|
NM_000263.4(NAGLU):c.1142T>C (p.Leu381Pro)
|
rs2143108019
|
|
|
NM_000263.4(NAGLU):c.1177C>T (p.Arg393Cys)
|
|
|
|
NM_000263.4(NAGLU):c.1178G>C (p.Arg393Pro)
|
|
|
|
NM_000263.4(NAGLU):c.1184C>G (p.Ala395Gly)
|
rs1599260536
|
|
|
NM_000263.4(NAGLU):c.1189T>G (p.Phe397Val)
|
|
|
|
NM_000263.4(NAGLU):c.1199A>C (p.Gln400Pro)
|
|
|
|
NM_000263.4(NAGLU):c.119T>G (p.Leu40Arg)
|
|
|
|
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys)
|
rs777670507
|
|
|
NM_000263.4(NAGLU):c.1229T>A (p.Phe410Tyr)
|
|
|
|
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser)
|
rs574688121
|
|
|
NM_000263.4(NAGLU):c.1264G>A (p.Ala422Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1272C>A (p.Asn424Lys)
|
|
|
|
NM_000263.4(NAGLU):c.1273G>A (p.Gly425Arg)
|
|
|
|
NM_000263.4(NAGLU):c.1288G>T (p.Ala430Ser)
|
|
|
|
NM_000263.4(NAGLU):c.1291C>T (p.Arg431Cys)
|
|
|
|
NM_000263.4(NAGLU):c.1304A>C (p.Asn435Thr)
|
rs764815033
|
|
|
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)
|
rs764815033
|
|
|
NM_000263.4(NAGLU):c.1305C>G (p.Asn435Lys)
|
|
|
|
NM_000263.4(NAGLU):c.1318G>C (p.Gly440Arg)
|
rs2143109259
|
|
|
NM_000263.4(NAGLU):c.1328T>C (p.Met443Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1329G>A (p.Met443Ile)
|
rs1370763282
|
|
|
NM_000263.4(NAGLU):c.1348C>G (p.Gln450Glu)
|
|
|
|
NM_000263.4(NAGLU):c.1391G>A (p.Arg464Gln)
|
|
|
|
NM_000263.4(NAGLU):c.1391G>C (p.Arg464Pro)
|
|
|
|
NM_000263.4(NAGLU):c.1405C>G (p.Pro469Ala)
|
rs894998392
|
|
|
NM_000263.4(NAGLU):c.1409A>T (p.Asp470Val)
|
|
|
|
NM_000263.4(NAGLU):c.1439C>T (p.Ala480Val)
|
|
|
|
NM_000263.4(NAGLU):c.1453G>C (p.Val485Leu)
|
rs1332288767
|
|
|
NM_000263.4(NAGLU):c.145_147del (p.Ser49del)
|
rs2092906185
|
|
|
NM_000263.4(NAGLU):c.1461C>A (p.His487Gln)
|
rs965655357
|
|
|
NM_000263.4(NAGLU):c.146C>T (p.Ser49Phe)
|
|
|
|
NM_000263.4(NAGLU):c.1472G>A (p.Gly491Glu)
|
|
|
|
NM_000263.4(NAGLU):c.1477G>A (p.Ala493Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1484G>A (p.Arg495Lys)
|
|
|
|
NM_000263.4(NAGLU):c.1484G>T (p.Arg495Met)
|
|
|
|
NM_000263.4(NAGLU):c.1485G>T (p.Arg495Ser)
|
rs2143110806
|
|
|
NM_000263.4(NAGLU):c.148G>C (p.Val50Leu)
|
|
|
|
NM_000263.4(NAGLU):c.1490T>C (p.Leu497Pro)
|
rs2092927686
|
|
|
NM_000263.4(NAGLU):c.1496G>A (p.Arg499Gln)
|
|
|
|
NM_000263.4(NAGLU):c.1508A>G (p.Asn503Ser)
|
|
|
|
NM_000263.4(NAGLU):c.1509C>A (p.Asn503Lys)
|
rs781603010
|
|
|
NM_000263.4(NAGLU):c.1522G>T (p.Ala508Ser)
|
|
|
|
NM_000263.4(NAGLU):c.1531G>A (p.Gly511Ser)
|
rs770129454
|
|
|
NM_000263.4(NAGLU):c.1538A>G (p.Asn513Ser)
|
|
|
|
NM_000263.4(NAGLU):c.1540C>T (p.Arg514Cys)
|
|
|
|
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)
|
|
|
|
NM_000263.4(NAGLU):c.1543A>G (p.Ser515Gly)
|
|
|
|
NM_000263.4(NAGLU):c.1556G>A (p.Arg519Lys)
|
|
|
|
NM_000263.4(NAGLU):c.1585A>G (p.Ile529Val)
|
|
|
|
NM_000263.4(NAGLU):c.1598G>A (p.Arg533Gln)
|
|
|
|
NM_000263.4(NAGLU):c.1601C>T (p.Ser534Phe)
|
rs2092928280
|
|
|
NM_000263.4(NAGLU):c.1612G>C (p.Glu538Gln)
|
|
|
|
NM_000263.4(NAGLU):c.1622G>A (p.Arg541Gln)
|
|
|
|
NM_000263.4(NAGLU):c.1639G>A (p.Ala547Thr)
|
|
|
|
NM_000263.4(NAGLU):c.163G>A (p.Ala55Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1650G>A (p.Leu550=)
|
|
|
|
NM_000263.4(NAGLU):c.1655C>T (p.Thr552Ile)
|
|
|
|
NM_000263.4(NAGLU):c.1663G>A (p.Ala555Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1664C>T (p.Ala555Val)
|
|
|
|
NM_000263.4(NAGLU):c.1670G>A (p.Arg557His)
|
|
|
|
NM_000263.4(NAGLU):c.1699G>T (p.Ala567Ser)
|
rs2092928703
|
|
|
NM_000263.4(NAGLU):c.1710G>T (p.Glu570Asp)
|
rs2092928775
|
|
|
NM_000263.4(NAGLU):c.1717A>G (p.Ser573Gly)
|
|
|
|
NM_000263.4(NAGLU):c.172G>A (p.Ala58Thr)
|
|
|
|
NM_000263.4(NAGLU):c.172G>C (p.Ala58Pro)
|
|
|
|
NM_000263.4(NAGLU):c.1735G>A (p.Ala579Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1737AAG[1] (p.Arg580del)
|
|
|
|
NM_000263.4(NAGLU):c.1744G>A (p.Ala582Thr)
|
rs144238669
|
|
|
NM_000263.4(NAGLU):c.176A>T (p.Lys59Met)
|
rs1217324478
|
|
|
NM_000263.4(NAGLU):c.1778G>A (p.Arg593Lys)
|
rs1274337932
|
|
|
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile)
|
rs759978970
|
|
|
NM_000263.4(NAGLU):c.1789G>C (p.Val597Leu)
|
rs759978970
|
|
|
NM_000263.4(NAGLU):c.1804C>A (p.Leu602Met)
|
|
|
|
NM_000263.4(NAGLU):c.1822G>C (p.Glu608Gln)
|
|
|
|
NM_000263.4(NAGLU):c.1825G>A (p.Val609Met)
|
|
|
|
NM_000263.4(NAGLU):c.1828C>A (p.Leu610Met)
|
|
|
|
NM_000263.4(NAGLU):c.1853T>C (p.Leu618Pro)
|
rs2143114107
|
|
|
NM_000263.4(NAGLU):c.1864C>G (p.Leu622Val)
|
|
|
|
NM_000263.4(NAGLU):c.1879G>A (p.Ala627Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1883C>T (p.Ala628Val)
|
|
|
|
NM_000263.4(NAGLU):c.1888G>A (p.Val630Ile)
|
|
|
|
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe)
|
rs764322586
|
|
|
NM_000263.4(NAGLU):c.1889T>G (p.Val630Gly)
|
|
|
|
NM_000263.4(NAGLU):c.1903G>A (p.Ala635Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1909T>C (p.Phe637Leu)
|
|
|
|
NM_000263.4(NAGLU):c.190A>G (p.Thr64Ala)
|
|
|
|
NM_000263.4(NAGLU):c.1911C>G (p.Phe637Leu)
|
|
|
|
NM_000263.4(NAGLU):c.1913A>G (p.Tyr638Cys)
|
rs2143114630
|
|
|
NM_000263.4(NAGLU):c.1915G>A (p.Glu639Lys)
|
|
|
|
NM_000263.4(NAGLU):c.1915G>C (p.Glu639Gln)
|
|
|
|
NM_000263.4(NAGLU):c.1921A>T (p.Asn641Tyr)
|
|
|
|
NM_000263.4(NAGLU):c.1923C>G (p.Asn641Lys)
|
|
|
|
NM_000263.4(NAGLU):c.1930T>G (p.Tyr644Asp)
|
rs2143114887
|
|
|
NM_000263.4(NAGLU):c.193T>C (p.Tyr65His)
|
rs2143076321
|
|
|
NM_000263.4(NAGLU):c.1940C>T (p.Thr647Ile)
|
|
|
|
NM_000263.4(NAGLU):c.1967T>C (p.Leu656Pro)
|
rs2092930000
|
|
|
NM_000263.4(NAGLU):c.197G>A (p.Ser66Asn)
|
|
|
|
NM_000263.4(NAGLU):c.200T>G (p.Leu67Arg)
|
|
|
|
NM_000263.4(NAGLU):c.2015C>T (p.Thr672Ile)
|
rs1358789110
|
|
|
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu)
|
rs1341421909
|
|
|
NM_000263.4(NAGLU):c.202G>A (p.Gly68Ser)
|
|
|
|
NM_000263.4(NAGLU):c.202_203insCCG (p.Leu67_Gly68insAla)
|
rs1469781984
|
|
|
NM_000263.4(NAGLU):c.2032T>C (p.Phe678Leu)
|
rs2143115795
|
|
|
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup)
|
rs1186888836
|
|
|
NM_000263.4(NAGLU):c.203GCG[6] (p.Gly70_Gly71dup)
|
rs1186888836
|
|
|
NM_000263.4(NAGLU):c.2042C>G (p.Ala681Gly)
|
|
|
|
NM_000263.4(NAGLU):c.2053A>C (p.Ser685Arg)
|
|
|
|
NM_000263.4(NAGLU):c.2054G>C (p.Ser685Thr)
|
|
|
|
NM_000263.4(NAGLU):c.2059G>A (p.Ala687Thr)
|
|
|
|
NM_000263.4(NAGLU):c.2068A>G (p.Ile690Val)
|
|
|
|
NM_000263.4(NAGLU):c.2068A>T (p.Ile690Phe)
|
rs143906118
|
|
|
NM_000263.4(NAGLU):c.2076C>G (p.Phe692Leu)
|
rs2092930476
|
|
|
NM_000263.4(NAGLU):c.2085C>G (p.His695Gln)
|
rs1038367205
|
|
|
NM_000263.4(NAGLU):c.2092G>A (p.Asp698Asn)
|
rs897126193
|
|
|
NM_000263.4(NAGLU):c.2099A>G (p.Asn700Ser)
|
|
|
|
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup)
|
rs1555621404
|
|
|
NM_000263.4(NAGLU):c.2124C>G (p.Phe708Leu)
|
rs139195906
|
|
|
NM_000263.4(NAGLU):c.2125G>A (p.Val709Ile)
|
|
|
|
NM_000263.4(NAGLU):c.2131A>G (p.Ser711Gly)
|
rs1482294617
|
|
|
NM_000263.4(NAGLU):c.2137dup (p.Gln713fs)
|
|
|
|
NM_000263.4(NAGLU):c.2139G>C (p.Gln713His)
|
|
|
|
NM_000263.4(NAGLU):c.214G>C (p.Ala72Pro)
|
rs2143076526
|
|
|
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter)
|
rs1555622589
|
|
|
NM_000263.4(NAGLU):c.217G>A (p.Ala73Thr)
|
|
|
|
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del)
|
rs1216052074
|
|
|
NM_000263.4(NAGLU):c.2191T>C (p.Phe731Leu)
|
rs760180817
|
|
|
NM_000263.4(NAGLU):c.2201A>G (p.Tyr734Cys)
|
rs2143116999
|
|
|
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)
|
rs2092930997
|
|
|
NM_000263.4(NAGLU):c.2205C>A (p.Tyr735Ter)
|
|
|
|
NM_000263.4(NAGLU):c.2207C>T (p.Pro736Leu)
|
|
|
|
NM_000263.4(NAGLU):c.2209C>T (p.Arg737Cys)
|
rs86312
|
|
|
NM_000263.4(NAGLU):c.2210G>A (p.Arg737His)
|
|
|
|
NM_000263.4(NAGLU):c.2215G>A (p.Val739Met)
|
|
|
|
NM_000263.4(NAGLU):c.2218G>A (p.Ala740Thr)
|
|
|
|
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter)
|
rs749371796
|
|
|
NM_000263.4(NAGLU):c.222C>G (p.Arg74=)
|
rs2143076606
|
|
|
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp)
|
rs1555622606
|
|
|
NM_000263.4(NAGLU):c.223G>A (p.Val75Met)
|
|
|
|
NM_000263.4(NAGLU):c.223G>C (p.Val75Leu)
|
rs1460838744
|
|
|
NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe)
|
rs2092906616
|
|
|
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)
|
rs2092906625
|
|
|
NM_000263.4(NAGLU):c.242C>T (p.Thr81Met)
|
|
|
|
NM_000263.4(NAGLU):c.259G>T (p.Ala87Ser)
|
|
|
|
NM_000263.4(NAGLU):c.26C>G (p.Ala9Gly)
|
rs1176961335
|
|
|
NM_000263.4(NAGLU):c.26C>T (p.Ala9Val)
|
|
|
|
NM_000263.4(NAGLU):c.277C>A (p.Leu93Met)
|
rs1285791183
|
|
|
NM_000263.4(NAGLU):c.278T>C (p.Leu93Pro)
|
|
|
|
NM_000263.4(NAGLU):c.28G>A (p.Val10Met)
|
rs1248922504
|
|
|
NM_000263.4(NAGLU):c.28G>C (p.Val10Leu)
|
|
|
|
NM_000263.4(NAGLU):c.304G>A (p.Ala102Thr)
|
|
|
|
NM_000263.4(NAGLU):c.311C>A (p.Ser104Tyr)
|
rs2143077245
|
|
|
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)
|
rs1181544224
|
|
|
NM_000263.4(NAGLU):c.314G>C (p.Gly105Ala)
|
|
|
|
NM_000263.4(NAGLU):c.317C>T (p.Ser106Phe)
|
|
|
|
NM_000263.4(NAGLU):c.31G>C (p.Gly11Arg)
|
|
|
|
NM_000263.4(NAGLU):c.326G>A (p.Arg109His)
|
rs1224387286
|
|
|
NM_000263.4(NAGLU):c.326G>T (p.Arg109Leu)
|
|
|
|
NM_000263.4(NAGLU):c.32G>T (p.Gly11Val)
|
rs1217361905
|
|
|
NM_000263.4(NAGLU):c.332C>T (p.Pro111Leu)
|
rs1567890347
|
|
|
NM_000263.4(NAGLU):c.348C>A (p.Ala116=)
|
|
|
|
NM_000263.4(NAGLU):c.349G>C (p.Val117Leu)
|
|
|
|
NM_000263.4(NAGLU):c.359A>G (p.Glu120Gly)
|
|
|
|
NM_000263.4(NAGLU):c.362T>C (p.Leu121Pro)
|
|
|
|
NM_000263.4(NAGLU):c.377C>T (p.Pro126Leu)
|
|
|
|
NM_000263.4(NAGLU):c.379A>C (p.Asn127His)
|
rs2143077833
|
|
|
NM_000263.4(NAGLU):c.37C>T (p.Leu13Phe)
|
|
|
|
NM_000263.4(NAGLU):c.380A>G (p.Asn127Ser)
|
|
|
|
NM_000263.4(NAGLU):c.383+3A>G
|
|
|
|
NM_000263.4(NAGLU):c.383+5C>A
|
rs762932040
|
|
|
NM_000263.4(NAGLU):c.383+5C>T
|
|
|
|
NM_000263.4(NAGLU):c.383+6G>T
|
|
|
|
NM_000263.4(NAGLU):c.384-3C>A
|
rs1216280532
|
|
|
NM_000263.4(NAGLU):c.392A>G (p.Tyr131Cys)
|
rs762337946
|
|
|
NM_000263.4(NAGLU):c.40C>A (p.Leu14Ile)
|
|
|
|
NM_000263.4(NAGLU):c.410C>T (p.Thr137Met)
|
|
|
|
NM_000263.4(NAGLU):c.423_425del (p.Phe142del)
|
rs1555621579
|
|
|
NM_000263.4(NAGLU):c.437A>T (p.Asp146Val)
|
rs2143082071
|
|
|
NM_000263.4(NAGLU):c.446G>C (p.Arg149Pro)
|
|
|
|
NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu)
|
|
|
|
NM_000263.4(NAGLU):c.453G>T (p.Glu151Asp)
|
|
|
|
NM_000263.4(NAGLU):c.455G>T (p.Arg152Leu)
|
rs141018386
|
|
|
NM_000263.4(NAGLU):c.472G>T (p.Ala158Ser)
|
|
|
|
NM_000263.4(NAGLU):c.474_475delinsAA (p.Leu159Met)
|
rs2143082294
|
|
|
NM_000263.4(NAGLU):c.502T>C (p.Trp168Arg)
|
rs2092910000
|
|
|
NM_000263.4(NAGLU):c.503G>C (p.Trp168Ser)
|
rs398123281
|
|
|
NM_000263.4(NAGLU):c.526C>A (p.Gln176Lys)
|
|
|
|
NM_000263.4(NAGLU):c.527A>G (p.Gln176Arg)
|
|
|
|
NM_000263.4(NAGLU):c.541G>T (p.Ala181Ser)
|
|
|
|
NM_000263.4(NAGLU):c.546G>C (p.Leu182Phe)
|
|
|
|
NM_000263.4(NAGLU):c.547G>C (p.Gly183Arg)
|
rs1056643237
|
|
|
NM_000263.4(NAGLU):c.56G>A (p.Gly19Glu)
|
|
|
|
NM_000263.4(NAGLU):c.5A>G (p.Glu2Gly)
|
|
|
|
NM_000263.4(NAGLU):c.610A>G (p.Met204Val)
|
rs2143086735
|
|
|
NM_000263.4(NAGLU):c.612G>T (p.Met204Ile)
|
|
|
|
NM_000263.4(NAGLU):c.614G>C (p.Gly205Ala)
|
|
|
|
NM_000263.4(NAGLU):c.617A>G (p.Asn206Ser)
|
rs1291552393
|
|
|
NM_000263.4(NAGLU):c.619C>G (p.Leu207Val)
|
|
|
|
NM_000263.4(NAGLU):c.626C>T (p.Thr209Ile)
|
rs2143086833
|
|
|
NM_000263.4(NAGLU):c.643C>T (p.Pro215Ser)
|
|
|
|
NM_000263.4(NAGLU):c.647C>A (p.Pro216His)
|
|
|
|
NM_000263.4(NAGLU):c.683G>C (p.Arg228Pro)
|
rs146456266
|
|
|
NM_000263.4(NAGLU):c.689_694del (p.Leu230_Asp231del)
|
rs2143087937
|
|
|
NM_000263.4(NAGLU):c.703T>C (p.Ser235Pro)
|
rs2143088010
|
|
|
NM_000263.4(NAGLU):c.707T>C (p.Phe236Ser)
|
|
|
|
NM_000263.4(NAGLU):c.718C>T (p.Pro240Ser)
|
|
|
|
NM_000263.4(NAGLU):c.719C>T (p.Pro240Leu)
|
|
|
|
NM_000263.4(NAGLU):c.721G>T (p.Val241Leu)
|
|
|
|
NM_000263.4(NAGLU):c.725T>C (p.Leu242Pro)
|
|
|
|
NM_000263.4(NAGLU):c.733T>C (p.Phe245Leu)
|
|
|
|
NM_000263.4(NAGLU):c.737C>A (p.Ala246Glu)
|
|
|
|
NM_000263.4(NAGLU):c.73G>A (p.Glu25Lys)
|
|
|
|
NM_000263.4(NAGLU):c.745G>A (p.Val249Ile)
|
rs2092914005
|
|
|
NM_000263.4(NAGLU):c.74A>G (p.Glu25Gly)
|
|
|
|
NM_000263.4(NAGLU):c.761C>T (p.Thr254Ile)
|
|
|
|
NM_000263.4(NAGLU):c.763A>C (p.Arg255=)
|
|
|
|
NM_000263.4(NAGLU):c.763A>T (p.Arg255Trp)
|
|
|
|
NM_000263.4(NAGLU):c.764+5G>A
|
|
|
|
NM_000263.4(NAGLU):c.764G>C (p.Arg255Thr)
|
rs2143088503
|
|
|
NM_000263.4(NAGLU):c.772C>T (p.Pro258Ser)
|
|
|
|
NM_000263.4(NAGLU):c.77C>A (p.Ala26Asp)
|
rs988433554
|
|
|
NM_000263.4(NAGLU):c.77C>T (p.Ala26Val)
|
rs988433554
|
|
|
NM_000263.4(NAGLU):c.782A>G (p.Asn261Ser)
|
|
|
|
NM_000263.4(NAGLU):c.787A>G (p.Thr263Ala)
|
rs2143097981
|
|
|
NM_000263.4(NAGLU):c.7G>T (p.Ala3Ser)
|
rs968875282
|
|
|
NM_000263.4(NAGLU):c.80_82dup (p.Arg27_Glu28insGly)
|
|
|
|
NM_000263.4(NAGLU):c.818G>A (p.Cys273Tyr)
|
|
|
|
NM_000263.4(NAGLU):c.824A>G (p.Tyr275Cys)
|
rs1025860195
|
|
|
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)
|
rs2092905949
|
|
|
NM_000263.4(NAGLU):c.830_832del (p.Cys277del)
|
rs398123282
|
|
|
NM_000263.4(NAGLU):c.849G>A (p.Pro283=)
|
|
|
|
NM_000263.4(NAGLU):c.854A>T (p.Asp285Val)
|
|
|
|
NM_000263.4(NAGLU):c.857C>T (p.Pro286Leu)
|
|
|
|
NM_000263.4(NAGLU):c.859A>G (p.Ile287Val)
|
rs2143098654
|
|
|
NM_000263.4(NAGLU):c.878G>A (p.Ser293Asn)
|
|
|
|
NM_000263.4(NAGLU):c.884T>G (p.Phe295Cys)
|
|
|
|
NM_000263.4(NAGLU):c.886C>A (p.Leu296Met)
|
|
|
|
NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr)
|
|
|
|
NM_000263.4(NAGLU):c.8C>T (p.Ala3Val)
|
rs2092905628
|
|
|
NM_000263.4(NAGLU):c.92C>G (p.Ala31Gly)
|
|
|
|
NM_000263.4(NAGLU):c.946G>A (p.Glu316Lys)
|
rs2143099484
|
|
|
NM_000263.4(NAGLU):c.949A>G (p.Met317Val)
|
|
|
|
NM_000263.4(NAGLU):c.951G>A (p.Met317Ile)
|
|
|
|
NM_000263.4(NAGLU):c.951G>C (p.Met317Ile)
|
|
|
|
NM_000263.4(NAGLU):c.959C>T (p.Pro320Leu)
|
|
|
|
NM_000263.4(NAGLU):c.962C>T (p.Ser321Phe)
|
|
|
|
NM_000263.4(NAGLU):c.971C>T (p.Pro324Leu)
|
|
|
|
NM_000263.4(NAGLU):c.979C>T (p.Leu327Phe)
|
|
|
|
NM_000263.4(NAGLU):c.985G>A (p.Ala329Thr)
|
|
|
|
NM_000263.4(NAGLU):c.994A>G (p.Thr332Ala)
|
|
|
|
NM_000284.4(PDHA1):c.1008+4C>T
|
|
|
|
NM_000284.4(PDHA1):c.1010A>C (p.Glu337Ala)
|
|
|
|
NM_000284.4(PDHA1):c.1021G>C (p.Glu341Gln)
|
|
|
|
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)
|
rs1244401639
|
|
|
NM_000284.4(PDHA1):c.1035G>T (p.Glu345Asp)
|
|
|
|
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del)
|
rs1602233040
|
|
|
NM_000284.4(PDHA1):c.1144C>A (p.Gln382Lys)
|
|
|
|
NM_000284.4(PDHA1):c.133C>T (p.Arg45Trp)
|
|
|
|
NM_000284.4(PDHA1):c.239A>C (p.Gln80Pro)
|
|
|
|
NM_000284.4(PDHA1):c.335_349del (p.Asp112_Thr116del)
|
|
|
|
NM_000284.4(PDHA1):c.397G>A (p.Glu133Lys)
|
|
|
|
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr)
|
rs1555933946
|
|
|
NM_000284.4(PDHA1):c.47C>T (p.Ser16Phe)
|
|
|
|
NM_000284.4(PDHA1):c.531T>G (p.Ile177Met)
|
rs2063182775
|
|
|
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val)
|
rs2147179733
|
|
|
NM_000284.4(PDHA1):c.536T>C (p.Leu179Pro)
|
rs1555934165
|
|
|
NM_000284.4(PDHA1):c.548A>G (p.Tyr183Cys)
|
rs2147179754
|
|
|
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val)
|
rs863224145
|
|
|
NM_000284.4(PDHA1):c.734G>C (p.Arg245Thr)
|
|
|
|
NM_000284.4(PDHA1):c.759+26G>A
|
rs1555934413
|
|
|
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)
|
|
|
|
NM_000284.4(PDHA1):c.784G>T (p.Val262Phe)
|
|
|
|
NM_000284.4(PDHA1):c.790G>A (p.Glu264Lys)
|
|
|
|
NM_000284.4(PDHA1):c.832-6T>C
|
rs2063212957
|
|
|
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser)
|
rs1602229682
|
|
|
NM_000284.4(PDHA1):c.900-12_936dup
|
|
|
|
NM_000284.4(PDHA1):c.953T>A (p.Met318Lys)
|
|
|
|
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)
|
rs2063233021
|
|
|
NM_000284.4(PDHA1):c.98A>T (p.Asp33Val)
|
|
|
|
NM_000289.6(PFKM):c.1028C>A (p.Ala343Asp)
|
|
|
|
NM_000289.6(PFKM):c.1034G>A (p.Arg345His)
|
|
|
|
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro)
|
rs1203659685
|
|
|
NM_000289.6(PFKM):c.1060G>T (p.Val354Leu)
|
|
|
|
NM_000289.6(PFKM):c.1064C>A (p.Thr355Asn)
|
|
|
|
NM_000289.6(PFKM):c.1114A>G (p.Lys372Glu)
|
rs1950380994
|
|
|
NM_000289.6(PFKM):c.1127+6G>T
|
|
|
|
NM_000289.6(PFKM):c.1177C>T (p.Pro393Ser)
|
|
|
|
NM_000289.6(PFKM):c.1191+12T>G
|
rs2135983216
|
|
|
NM_000289.6(PFKM):c.1191+3A>G
|
|
|
|
NM_000289.6(PFKM):c.1193G>A (p.Ser398Asn)
|
|
|
|
NM_000289.6(PFKM):c.1199C>T (p.Ser400Leu)
|
|
|
|
NM_000289.6(PFKM):c.1208T>C (p.Val403Ala)
|
|
|
|
NM_000289.6(PFKM):c.1226G>T (p.Gly409Val)
|
|
|
|
NM_000289.6(PFKM):c.133G>A (p.Gly45Ser)
|
|
|
|
NM_000289.6(PFKM):c.1342-15G>A
|
|
|
|
NM_000289.6(PFKM):c.1439A>G (p.Gln480Arg)
|
|
|
|
NM_000289.6(PFKM):c.1441A>T (p.Ile481Phe)
|
|
|
|
NM_000289.6(PFKM):c.1451A>G (p.Asn484Ser)
|
|
|
|
NM_000289.6(PFKM):c.1453A>G (p.Ile485Val)
|
|
|
|
NM_000289.6(PFKM):c.1487T>C (p.Ile496Thr)
|
|
|
|
NM_000289.6(PFKM):c.1514G>T (p.Gly505Val)
|
rs774891977
|
|
|
NM_000289.6(PFKM):c.1565T>C (p.Phe522Ser)
|
|
|
|
NM_000289.6(PFKM):c.160-13A>G
|
|
|
|
NM_000289.6(PFKM):c.1618G>A (p.Val540Ile)
|
|
|
|
NM_000289.6(PFKM):c.1742C>T (p.Ala581Val)
|
|
|
|
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn)
|
|
|
|
NM_000289.6(PFKM):c.1808G>A (p.Arg603Gln)
|
|
|
|
NM_000289.6(PFKM):c.1826T>C (p.Val609Ala)
|
|
|
|
NM_000289.6(PFKM):c.1880+3A>G
|
|
|
|
NM_000289.6(PFKM):c.1880+5C>G
|
|
|
|
NM_000289.6(PFKM):c.189T>G (p.Asp63Glu)
|
|
|
|
NM_000289.6(PFKM):c.1918A>G (p.Ile640Val)
|
|
|
|
NM_000289.6(PFKM):c.1925A>C (p.Asn642Thr)
|
|
|
|
NM_000289.6(PFKM):c.2039G>A (p.Gly680Asp)
|
|
|
|
NM_000289.6(PFKM):c.2041G>A (p.Ala681Thr)
|
|
|
|
NM_000289.6(PFKM):c.2053A>G (p.Asn685Asp)
|
|
|
|
NM_000289.6(PFKM):c.2077G>C (p.Glu693Gln)
|
|
|
|
NM_000289.6(PFKM):c.2086C>T (p.Arg696Cys)
|
|
|
|
NM_000289.6(PFKM):c.2100C>G (p.Ile700Met)
|
rs2136051089
|
|
|
NM_000289.6(PFKM):c.213G>T (p.Glu71Asp)
|
|
|
|
NM_000289.6(PFKM):c.2161C>G (p.Gln721Glu)
|
|
|
|
NM_000289.6(PFKM):c.2173G>A (p.Glu725Lys)
|
rs1176082291
|
|
|
NM_000289.6(PFKM):c.2234dup (p.Arg746fs)
|
|
|
|
NM_000289.6(PFKM):c.2253C>G (p.Ile751Met)
|
|
|
|
NM_000289.6(PFKM):c.2266G>A (p.Glu756Lys)
|
|
|
|
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser)
|
rs1592832922
|
|
|
NM_000289.6(PFKM):c.2287G>A (p.Asp763Asn)
|
|
|
|
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile)
|
|
|
|
NM_000289.6(PFKM):c.2315G>A (p.Arg772Gln)
|
|
|
|
NM_000289.6(PFKM):c.2326G>A (p.Gly776Arg)
|
|
|
|
NM_000289.6(PFKM):c.2327G>A (p.Gly776Glu)
|
|
|
|
NM_000289.6(PFKM):c.237+5_237+6insCTGAATATG
|
|
|
|
NM_000289.6(PFKM):c.293G>A (p.Arg98Gln)
|
|
|
|
NM_000289.6(PFKM):c.321G>C (p.Lys107Asn)
|
|
|
|
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser)
|
rs1592727517
|
|
|
NM_000289.6(PFKM):c.374C>A (p.Ala125Asp)
|
|
|
|
NM_000289.6(PFKM):c.385C>T (p.Arg129Cys)
|
|
|
|
NM_000289.6(PFKM):c.38G>A (p.Gly13Glu)
|
|
|
|
NM_000289.6(PFKM):c.427G>A (p.Gly143Ser)
|
|
|
|
NM_000289.6(PFKM):c.431A>C (p.Lys144Thr)
|
|
|
|
NM_000289.6(PFKM):c.512G>T (p.Gly171Val)
|
|
|
|
NM_000289.6(PFKM):c.551G>A (p.Arg184Gln)
|
|
|
|
NM_000289.6(PFKM):c.628C>T (p.Arg210Cys)
|
|
|
|
NM_000289.6(PFKM):c.638+4A>G
|
|
|
|
NM_000289.6(PFKM):c.712G>A (p.Asp238Asn)
|
|
|
|
NM_000289.6(PFKM):c.757C>T (p.Arg253Cys)
|
|
|
|
NM_000289.6(PFKM):c.766C>T (p.Arg256Cys)
|
|
|
|
NM_000289.6(PFKM):c.799A>G (p.Ile267Val)
|
|
|
|
NM_000289.6(PFKM):c.856C>T (p.Arg286Cys)
|
|
|
|
NM_000289.6(PFKM):c.857G>T (p.Arg286Leu)
|
|
|
|
NM_000289.6(PFKM):c.86G>A (p.Gly29Asp)
|
|
|
|
NM_000289.6(PFKM):c.872C>G (p.Thr291Ser)
|
|
|
|
NM_000289.6(PFKM):c.874C>T (p.Arg292Trp)
|
|
|
|
NM_000289.6(PFKM):c.883G>A (p.Val295Ile)
|
|
|
|
NM_000289.6(PFKM):c.926A>T (p.Asp309Val)
|
|
|
|
NM_000289.6(PFKM):c.995C>T (p.Pro332Leu)
|
|
|
|
NM_000290.4(PGAM2):c.106G>A (p.Glu36Lys)
|
|
|
|
NM_000290.4(PGAM2):c.125C>T (p.Ala42Val)
|
|
|
|
NM_000290.4(PGAM2):c.136A>G (p.Lys46Glu)
|
|
|
|
NM_000290.4(PGAM2):c.13C>T (p.Arg5Cys)
|
|
|
|
NM_000290.4(PGAM2):c.14G>A (p.Arg5His)
|
|
|
|
NM_000290.4(PGAM2):c.155T>C (p.Phe52Ser)
|
|
|
|
NM_000290.4(PGAM2):c.161T>C (p.Ile54Thr)
|
|
|
|
NM_000290.4(PGAM2):c.170C>T (p.Thr57Met)
|
|
|
|
NM_000290.4(PGAM2):c.193C>T (p.Arg65Cys)
|
|
|
|
NM_000290.4(PGAM2):c.221C>T (p.Thr74Met)
|
|
|
|
NM_000290.4(PGAM2):c.244G>A (p.Val82Met)
|
rs528467394
|
|
|
NM_000290.4(PGAM2):c.244G>T (p.Val82Leu)
|
rs528467394
|
|
|
NM_000290.4(PGAM2):c.247C>T (p.Arg83Cys)
|
|
|
|
NM_000290.4(PGAM2):c.251C>A (p.Thr84Asn)
|
|
|
|
NM_000290.4(PGAM2):c.251C>G (p.Thr84Ser)
|
|
|
|
NM_000290.4(PGAM2):c.257G>A (p.Arg86His)
|
|
|
|
NM_000290.4(PGAM2):c.28C>T (p.Arg10Trp)
|
|
|
|
NM_000290.4(PGAM2):c.29G>A (p.Arg10Gln)
|
|
|
|
NM_000290.4(PGAM2):c.350G>A (p.Arg117His)
|
|
|
|
NM_000290.4(PGAM2):c.359A>G (p.Asp120Gly)
|
|
|
|
NM_000290.4(PGAM2):c.35_37del (p.Gly12del)
|
rs2096158222
|
|
|
NM_000290.4(PGAM2):c.368C>G (p.Pro123Arg)
|
rs372435680
|
|
|
NM_000290.4(PGAM2):c.382G>A (p.Glu128Lys)
|
|
|
|
NM_000290.4(PGAM2):c.419G>A (p.Arg140His)
|
|
|
|
NM_000290.4(PGAM2):c.422G>A (p.Arg141Gln)
|
|
|
|
NM_000290.4(PGAM2):c.431G>A (p.Gly144Asp)
|
|
|
|
NM_000290.4(PGAM2):c.442G>C (p.Gly148Arg)
|
|
|
|
NM_000290.4(PGAM2):c.460G>A (p.Glu154Lys)
|
|
|
|
NM_000290.4(PGAM2):c.485G>A (p.Arg162Gln)
|
|
|
|
NM_000290.4(PGAM2):c.485G>C (p.Arg162Pro)
|
|
|
|
NM_000290.4(PGAM2):c.501G>C (p.Trp167Cys)
|
|
|
|
NM_000290.4(PGAM2):c.505G>A (p.Glu169Lys)
|
|
|
|
NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu)
|
rs372452057
|
|
|
NM_000290.4(PGAM2):c.51C>A (p.Asn17Lys)
|
|
|
|
NM_000290.4(PGAM2):c.576C>T (p.Gly192=)
|
rs2096156189
|
|
|
NM_000290.4(PGAM2):c.595G>T (p.Gly199Trp)
|
|
|
|
NM_000290.4(PGAM2):c.59A>C (p.Asn20Thr)
|
|
|
|
NM_000290.4(PGAM2):c.62G>A (p.Arg21His)
|
rs1392611950
|
|
|
NM_000290.4(PGAM2):c.673A>C (p.Lys225Gln)
|
|
|
|
NM_000290.4(PGAM2):c.70G>A (p.Gly24Ser)
|
|
|
|
NM_000290.4(PGAM2):c.713C>T (p.Thr238Met)
|
|
|
|
NM_000290.4(PGAM2):c.93T>G (p.Ser31Arg)
|
|
|
|
NM_000292.3(PHKA2):c.1081A>G (p.Arg361Gly)
|
|
|
|
NM_000292.3(PHKA2):c.1121C>T (p.Ala374Val)
|
|
|
|
NM_000292.3(PHKA2):c.1168G>A (p.Val390Ile)
|
|
|
|
NM_000292.3(PHKA2):c.1462C>T (p.Arg488Trp)
|
|
|
|
NM_000292.3(PHKA2):c.1492C>A (p.Pro498Thr)
|
|
|
|
NM_000292.3(PHKA2):c.1519A>G (p.Thr507Ala)
|
|
|
|
NM_000292.3(PHKA2):c.1569+3G>A
|
|
|
|
NM_000292.3(PHKA2):c.1655C>T (p.Thr552Ile)
|
|
|
|
NM_000292.3(PHKA2):c.167G>A (p.Gly56Asp)
|
rs2147995267
|
|
|
NM_000292.3(PHKA2):c.1775G>T (p.Gly592Val)
|
rs370965746
|
|
|
NM_000292.3(PHKA2):c.1794-8_1794-6del
|
|
|
|
NM_000292.3(PHKA2):c.1964-3C>T
|
rs1035866155
|
|
|
NM_000292.3(PHKA2):c.218A>G (p.Lys73Arg)
|
|
|
|
NM_000292.3(PHKA2):c.2381A>G (p.Asn794Ser)
|
rs886801187
|
|
|
NM_000292.3(PHKA2):c.2401G>T (p.Val801Phe)
|
|
|
|
NM_000292.3(PHKA2):c.2470C>T (p.Arg824Cys)
|
rs2047851598
|
|
|
NM_000292.3(PHKA2):c.2471G>C (p.Arg824Pro)
|
rs1569298640
|
|
|
NM_000292.3(PHKA2):c.2503G>A (p.Glu835Lys)
|
rs1234436850
|
|
|
NM_000292.3(PHKA2):c.2517+5G>A
|
rs2047850403
|
|
|
NM_000292.3(PHKA2):c.2598G>T (p.Ala866=)
|
|
|
|
NM_000292.3(PHKA2):c.2600C>T (p.Pro867Leu)
|
|
|
|
NM_000292.3(PHKA2):c.272G>A (p.Cys91Tyr)
|
rs2147991232
|
|
|
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr)
|
rs1158193880
|
|
|
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro)
|
rs1324893950
|
|
|
NM_000292.3(PHKA2):c.286-10del
|
rs766261786
|
|
|
NM_000292.3(PHKA2):c.2864T>C (p.Leu955Pro)
|
rs2147851573
|
|
|
NM_000292.3(PHKA2):c.2969C>T (p.Thr990Ile)
|
|
|
|
NM_000292.3(PHKA2):c.3028A>G (p.Met1010Val)
|
rs1601700586
|
|
|
NM_000292.3(PHKA2):c.3121A>G (p.Thr1041Ala)
|
|
|
|
NM_000292.3(PHKA2):c.3174C>G (p.Ile1058Met)
|
|
|
|
NM_000292.3(PHKA2):c.3205C>T (p.Arg1069Cys)
|
|
|
|
NM_000292.3(PHKA2):c.3284G>A (p.Cys1095Tyr)
|
|
|
|
NM_000292.3(PHKA2):c.3356A>G (p.Lys1119Arg)
|
rs2047493147
|
|
|
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys)
|
rs1555988071
|
|
|
NM_000292.3(PHKA2):c.3388C>T (p.Arg1130Cys)
|
|
|
|
NM_000292.3(PHKA2):c.3409C>T (p.Arg1137Trp)
|
|
|
|
NM_000292.3(PHKA2):c.3410G>C (p.Arg1137Pro)
|
|
|
|
NM_000292.3(PHKA2):c.3424G>A (p.Glu1142Lys)
|
|
|
|
NM_000292.3(PHKA2):c.346T>A (p.Tyr116Asn)
|
rs1601776489
|
|
|
NM_000292.3(PHKA2):c.3491T>A (p.Val1164Glu)
|
rs2147802543
|
|
|
NM_000292.3(PHKA2):c.3516T>G (p.Ser1172Arg)
|
|
|
|
NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs)
|
rs2147799052
|
|
|
NM_000292.3(PHKA2):c.3708G>C (p.Ter1236Tyr)
|
rs2047465246
|
|
|
NM_000292.3(PHKA2):c.395A>G (p.His132Arg)
|
rs137852291
|
|
|
NM_000292.3(PHKA2):c.44C>T (p.Ala15Val)
|
|
|
|
NM_000292.3(PHKA2):c.509T>C (p.Phe170Ser)
|
|
|
|
NM_000292.3(PHKA2):c.538G>A (p.Asp180Asn)
|
|
|
|
NM_000292.3(PHKA2):c.547A>G (p.Met183Val)
|
|
|
|
NM_000292.3(PHKA2):c.555G>C (p.Glu185Asp)
|
rs774250532
|
|
|
NM_000292.3(PHKA2):c.740C>G (p.Pro247Arg)
|
rs2147963178
|
|
|
NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu)
|
rs2048489995
|
|
|
NM_000292.3(PHKA2):c.772G>A (p.Gly258Arg)
|
rs2147962993
|
|
|
NM_000292.3(PHKA2):c.7A>C (p.Ser3Arg)
|
rs2049222511
|
|
|
NM_000292.3(PHKA2):c.893G>C (p.Arg298Pro)
|
rs1359540820
|
|
|
NM_000292.3(PHKA2):c.898G>A (p.Gly300Ser)
|
rs2147958526
|
|
|
NM_000292.3(PHKA2):c.977G>A (p.Cys326Tyr)
|
rs1601758342
|
|
|
NM_000293.3(PHKB):c.100A>G (p.Ser34Gly)
|
|
|
|
NM_000293.3(PHKB):c.1031A>T (p.Asp344Val)
|
|
|
|
NM_000293.3(PHKB):c.1034C>G (p.Pro345Arg)
|
|
|
|
NM_000293.3(PHKB):c.1054C>G (p.Pro352Ala)
|
rs1197477921
|
|
|
NM_000293.3(PHKB):c.1069-3T>C
|
|
|
|
NM_000293.3(PHKB):c.1097C>T (p.Pro366Leu)
|
|
|
|
NM_000293.3(PHKB):c.10del (p.Ala4fs)
|
|
|
|
NM_000293.3(PHKB):c.1127-6T>A
|
|
|
|
NM_000293.3(PHKB):c.1205-16T>G
|
|
|
|
NM_000293.3(PHKB):c.1205G>A (p.Gly402Glu)
|
|
|
|
NM_000293.3(PHKB):c.1228T>C (p.Tyr410His)
|
rs2151701605
|
|
|
NM_000293.3(PHKB):c.1256A>G (p.Tyr419Cys)
|
|
|
|
NM_000293.3(PHKB):c.1317A>C (p.Lys439Asn)
|
|
|
|
NM_000293.3(PHKB):c.1319T>C (p.Leu440Pro)
|
|
|
|
NM_000293.3(PHKB):c.1348A>T (p.Ile450Phe)
|
|
|
|
NM_000293.3(PHKB):c.1376T>C (p.Ile459Thr)
|
|
|
|
NM_000293.3(PHKB):c.1391T>C (p.Ile464Thr)
|
rs1567326518
|
|
|
NM_000293.3(PHKB):c.1409A>G (p.Tyr470Cys)
|
|
|
|
NM_000293.3(PHKB):c.1429C>T (p.Arg477Cys)
|
|
|
|
NM_000293.3(PHKB):c.1458+3A>G
|
|
|
|
NM_000293.3(PHKB):c.1509C>G (p.Ser503Arg)
|
|
|
|
NM_000293.3(PHKB):c.1520A>G (p.Gln507Arg)
|
|
|
|
NM_000293.3(PHKB):c.1538A>G (p.Tyr513Cys)
|
|
|
|
NM_000293.3(PHKB):c.1548A>T (p.Gln516His)
|
|
|
|
NM_000293.3(PHKB):c.1616T>C (p.Leu539Ser)
|
|
|
|
NM_000293.3(PHKB):c.1690A>G (p.Lys564Glu)
|
|
|
|
NM_000293.3(PHKB):c.16G>A (p.Gly6Arg)
|
|
|
|
NM_000293.3(PHKB):c.1726T>G (p.Tyr576Asp)
|
|
|
|
NM_000293.3(PHKB):c.1748G>A (p.Ser583Asn)
|
rs1567341136
|
|
|
NM_000293.3(PHKB):c.1784T>C (p.Ile595Thr)
|
|
|
|
NM_000293.3(PHKB):c.178T>G (p.Leu60Val)
|
|
|
|
NM_000293.3(PHKB):c.1810T>G (p.Phe604Val)
|
|
|
|
NM_000293.3(PHKB):c.1841G>A (p.Arg614His)
|
|
|
|
NM_000293.3(PHKB):c.1861A>C (p.Ile621Leu)
|
|
|
|
NM_000293.3(PHKB):c.1864C>T (p.Arg622Trp)
|
|
|
|
NM_000293.3(PHKB):c.1876A>G (p.Ile626Val)
|
|
|
|
NM_000293.3(PHKB):c.1888C>T (p.Arg630Trp)
|
|
|
|
NM_000293.3(PHKB):c.1900A>G (p.Ile634Val)
|
|
|
|
NM_000293.3(PHKB):c.1927A>G (p.Lys643Glu)
|
|
|
|
NM_000293.3(PHKB):c.1A>G (p.Met1Val)
|
|
|
|
NM_000293.3(PHKB):c.2033+5G>A
|
|
|
|
NM_000293.3(PHKB):c.205G>A (p.Gly69Ser)
|
|
|
|
NM_000293.3(PHKB):c.2060A>T (p.Glu687Val)
|
|
|
|
NM_000293.3(PHKB):c.2078A>G (p.His693Arg)
|
|
|
|
NM_000293.3(PHKB):c.2086G>A (p.Val696Ile)
|
|
|
|
NM_000293.3(PHKB):c.2105C>T (p.Thr702Ile)
|
|
|
|
NM_000293.3(PHKB):c.2107C>T (p.Pro703Ser)
|
|
|
|
NM_000293.3(PHKB):c.211T>G (p.Phe71Val)
|
|
|
|
NM_000293.3(PHKB):c.2126G>A (p.Gly709Glu)
|
|
|
|
NM_000293.3(PHKB):c.2176G>A (p.Glu726Lys)
|
|
|
|
NM_000293.3(PHKB):c.217A>G (p.Thr73Ala)
|
|
|
|
NM_000293.3(PHKB):c.2182C>T (p.Leu728Phe)
|
|
|
|
NM_000293.3(PHKB):c.2261A>C (p.Asn754Thr)
|
|
|
|
NM_000293.3(PHKB):c.2281A>G (p.Thr761Ala)
|
|
|
|
NM_000293.3(PHKB):c.2291A>G (p.Asp764Gly)
|
rs1973484337
|
|
|
NM_000293.3(PHKB):c.2312G>A (p.Arg771Lys)
|
|
|
|
NM_000293.3(PHKB):c.2320G>C (p.Gly774Arg)
|
|
|
|
NM_000293.3(PHKB):c.2342C>T (p.Ala781Val)
|
|
|
|
NM_000293.3(PHKB):c.2344G>A (p.Val782Met)
|
|
|
|
NM_000293.3(PHKB):c.2398A>G (p.Ile800Val)
|
|
|
|
NM_000293.3(PHKB):c.2427+1014G>A
|
rs2151739368
|
|
|
NM_000293.3(PHKB):c.2471A>T (p.Asn824Ile)
|
|
|
|
NM_000293.3(PHKB):c.2510A>G (p.Tyr837Cys)
|
|
|
|
NM_000293.3(PHKB):c.2534G>C (p.Arg845Thr)
|
|
|
|
NM_000293.3(PHKB):c.2555A>T (p.Glu852Val)
|
|
|
|
NM_000293.3(PHKB):c.2581A>G (p.Ile861Val)
|
|
|
|
NM_000293.3(PHKB):c.2588A>G (p.Asn863Ser)
|
|
|
|
NM_000293.3(PHKB):c.258C>G (p.Asp86Glu)
|
rs147357783
|
|
|
NM_000293.3(PHKB):c.25G>A (p.Ala9Thr)
|
|
|
|
NM_000293.3(PHKB):c.2624G>A (p.Arg875Gln)
|
|
|
|
NM_000293.3(PHKB):c.2657A>C (p.Glu886Ala)
|
|
|
|
NM_000293.3(PHKB):c.2677G>C (p.Asp893His)
|
rs2142102160
|
|
|
NM_000293.3(PHKB):c.2705T>G (p.Leu902Arg)
|
rs2142102195
|
|
|
NM_000293.3(PHKB):c.2755C>A (p.Gln919Lys)
|
|
|
|
NM_000293.3(PHKB):c.2783G>A (p.Arg928His)
|
rs556303193
|
|
|
NM_000293.3(PHKB):c.2791G>A (p.Asp931Asn)
|
rs373243537
|
|
|
NM_000293.3(PHKB):c.2813C>G (p.Pro938Arg)
|
rs2142106902
|
|
|
NM_000293.3(PHKB):c.2825A>G (p.Tyr942Cys)
|
|
|
|
NM_000293.3(PHKB):c.2852G>T (p.Arg951Leu)
|
|
|
|
NM_000293.3(PHKB):c.2861A>G (p.Asn954Ser)
|
|
|
|
NM_000293.3(PHKB):c.2876C>T (p.Ala959Val)
|
|
|
|
NM_000293.3(PHKB):c.287C>G (p.Ala96Gly)
|
rs776773729
|
|
|
NM_000293.3(PHKB):c.2882A>G (p.Lys961Arg)
|
|
|
|
NM_000293.3(PHKB):c.2898A>G (p.Gln966=)
|
|
|
|
NM_000293.3(PHKB):c.290T>C (p.Leu97Ser)
|
|
|
|
NM_000293.3(PHKB):c.2977C>A (p.Pro993Thr)
|
|
|
|
NM_000293.3(PHKB):c.3003+6T>C
|
|
|
|
NM_000293.3(PHKB):c.3003G>A (p.Glu1001=)
|
|
|
|
NM_000293.3(PHKB):c.3039C>A (p.Asn1013Lys)
|
rs151222947
|
|
|
NM_000293.3(PHKB):c.3046C>G (p.Leu1016Val)
|
|
|
|
NM_000293.3(PHKB):c.305+11G>A
|
rs368293023
|
|
|
NM_000293.3(PHKB):c.308G>A (p.Arg103Gln)
|
|
|
|
NM_000293.3(PHKB):c.308G>T (p.Arg103Leu)
|
|
|
|
NM_000293.3(PHKB):c.3098A>G (p.Asn1033Ser)
|
|
|
|
NM_000293.3(PHKB):c.3131A>G (p.Glu1044Gly)
|
|
|
|
NM_000293.3(PHKB):c.3134T>C (p.Ile1045Thr)
|
|
|
|
NM_000293.3(PHKB):c.3141_3144del (p.Gln1048fs)
|
rs778012017
|
|
|
NM_000293.3(PHKB):c.3145-14_3145-7del
|
rs759760999
|
|
|
NM_000293.3(PHKB):c.3164A>G (p.Tyr1055Cys)
|
|
|
|
NM_000293.3(PHKB):c.3171_3172delinsAA (p.Pro1058Thr)
|
|
|
|
NM_000293.3(PHKB):c.320A>G (p.Asp107Gly)
|
|
|
|
NM_000293.3(PHKB):c.3215C>T (p.Ala1072Val)
|
|
|
|
NM_000293.3(PHKB):c.3221T>A (p.Met1074Lys)
|
|
|
|
NM_000293.3(PHKB):c.3224A>G (p.Asn1075Ser)
|
rs1405663204
|
|
|
NM_000293.3(PHKB):c.3242A>C (p.Glu1081Ala)
|
|
|
|
NM_000293.3(PHKB):c.3256A>G (p.Asn1086Asp)
|
|
|
|
NM_000293.3(PHKB):c.3257A>G (p.Asn1086Ser)
|
|
|
|
NM_000293.3(PHKB):c.3259G>A (p.Asp1087Asn)
|
rs764639480
|
|
|
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg)
|
rs763764574
|
|
|
NM_000293.3(PHKB):c.3271C>G (p.Leu1091Val)
|
|
|
|
NM_000293.3(PHKB):c.3280del (p.Ter1094SerextTer?)
|
|
|
|
NM_000293.3(PHKB):c.337G>A (p.Glu113Lys)
|
|
|
|
NM_000293.3(PHKB):c.379T>A (p.Tyr127Asn)
|
|
|
|
NM_000293.3(PHKB):c.386A>G (p.Tyr129Cys)
|
rs774882825
|
|
|
NM_000293.3(PHKB):c.405+8_405+10del
|
rs2151644461
|
|
|
NM_000293.3(PHKB):c.406G>A (p.Val136Ile)
|
|
|
|
NM_000293.3(PHKB):c.431G>A (p.Arg144His)
|
rs768399607
|
|
|
NM_000293.3(PHKB):c.443G>A (p.Cys148Tyr)
|
|
|
|
NM_000293.3(PHKB):c.470C>T (p.Thr157Ile)
|
|
|
|
NM_000293.3(PHKB):c.505C>T (p.His169Tyr)
|
|
|
|
NM_000293.3(PHKB):c.530T>C (p.Leu177Pro)
|
rs770841932
|
|
|
NM_000293.3(PHKB):c.542A>G (p.Tyr181Cys)
|
|
|
|
NM_000293.3(PHKB):c.545T>G (p.Leu182Arg)
|
rs1970580865
|
|
|
NM_000293.3(PHKB):c.571C>G (p.Gln191Glu)
|
rs2151651796
|
|
|
NM_000293.3(PHKB):c.589G>A (p.Asp197Asn)
|
|
|
|
NM_000293.3(PHKB):c.594+4T>G
|
|
|
|
NM_000293.3(PHKB):c.62G>C (p.Arg21Pro)
|
|
|
|
NM_000293.3(PHKB):c.632G>A (p.Arg211Lys)
|
rs1971192807
|
|
|
NM_000293.3(PHKB):c.641G>A (p.Arg214His)
|
|
|
|
NM_000293.3(PHKB):c.646C>T (p.Pro216Ser)
|
|
|
|
NM_000293.3(PHKB):c.655G>C (p.Gly219Arg)
|
|
|
|
NM_000293.3(PHKB):c.661T>G (p.Trp221Gly)
|
|
|
|
NM_000293.3(PHKB):c.664G>C (p.Glu222Gln)
|
rs866677615
|
|
|
NM_000293.3(PHKB):c.680A>G (p.Tyr227Cys)
|
|
|
|
NM_000293.3(PHKB):c.698A>C (p.Glu233Ala)
|
|
|
|
NM_000293.3(PHKB):c.710+4A>G
|
|
|
|
NM_000293.3(PHKB):c.716T>C (p.Val239Ala)
|
rs761032231
|
|
|
NM_000293.3(PHKB):c.731C>T (p.Ala244Val)
|
|
|
|
NM_000293.3(PHKB):c.733G>A (p.Ala245Thr)
|
|
|
|
NM_000293.3(PHKB):c.743C>G (p.Ala248Gly)
|
|
|
|
NM_000293.3(PHKB):c.76+4T>G
|
|
|
|
NM_000293.3(PHKB):c.80C>T (p.Ser27Leu)
|
|
|
|
NM_000293.3(PHKB):c.842C>T (p.Ser281Leu)
|
|
|
|
NM_000293.3(PHKB):c.942C>A (p.Ser314Arg)
|
rs775139159
|
|
|
NM_000293.3(PHKB):c.995G>A (p.Arg332His)
|
|
|
|
NM_000293.3(PHKB):c.995G>C (p.Arg332Pro)
|
|
|
|
NM_000294.3(PHKG2):c.112G>A (p.Val38Ile)
|
|
|
|
NM_000294.3(PHKG2):c.113T>A (p.Val38Asp)
|
|
|
|
NM_000294.3(PHKG2):c.116G>A (p.Arg39His)
|
|
|
|
NM_000294.3(PHKG2):c.124G>A (p.Val42Ile)
|
|
|
|
NM_000294.3(PHKG2):c.158_160del (p.Lys53del)
|
rs2053338364
|
|
|
NM_000294.3(PHKG2):c.235C>T (p.His79Tyr)
|
|
|
|
NM_000294.3(PHKG2):c.245G>A (p.Arg82His)
|
|
|
|
NM_000294.3(PHKG2):c.271+6G>A
|
rs767677860
|
|
|
NM_000294.3(PHKG2):c.332G>A (p.Arg111Gln)
|
|
|
|
NM_000294.3(PHKG2):c.541G>A (p.Gly181Ser)
|
rs2053379091
|
|
|
NM_000294.3(PHKG2):c.639G>T (p.Glu213Asp)
|
|
|
|
NM_000294.3(PHKG2):c.71A>G (p.Tyr24Cys)
|
rs1596677187
|
|
|
NM_000294.3(PHKG2):c.782C>G (p.Ser261Cys)
|
|
|
|
NM_000294.3(PHKG2):c.907A>C (p.Thr303Pro)
|
rs780358808
|
|
|
NM_000294.3(PHKG2):c.908C>G (p.Thr303Ser)
|
|
|
|
NM_000294.3(PHKG2):c.913dup (p.Arg305fs)
|
rs2151310570
|
|
|
NM_000294.3(PHKG2):c.986G>A (p.Arg329Gln)
|
|
|
|
NM_000308.4(CTSA):c.-1+6C>A
|
rs1164857603
|
|
|
NM_000308.4(CTSA):c.-15C>T
|
rs188792776
|
|
|
NM_000308.4(CTSA):c.-18G>C
|
rs1227051895
|
|
|
NM_000308.4(CTSA):c.-2A>C
|
|
|
|
NM_000308.4(CTSA):c.-41C>T
|
rs750301506
|
|
|
NM_000308.4(CTSA):c.1024A>G (p.Asn342Asp)
|
|
|
|
NM_000308.4(CTSA):c.1043A>C (p.Lys348Thr)
|
rs780430995
|
|
|
NM_000308.4(CTSA):c.1073A>C (p.Gln358Pro)
|
rs543752177
|
|
|
NM_000308.4(CTSA):c.1073A>G (p.Gln358Arg)
|
|
|
|
NM_000308.4(CTSA):c.1087A>G (p.Asn363Asp)
|
|
|
|
NM_000308.4(CTSA):c.1089-3C>A
|
rs764115103
|
|
|
NM_000308.4(CTSA):c.1089-4G>T
|
rs2145822510
|
|
|
NM_000308.4(CTSA):c.1096G>A (p.Val366Ile)
|
|
|
|
NM_000308.4(CTSA):c.1099A>G (p.Asn367Asp)
|
|
|
|
NM_000308.4(CTSA):c.1114C>T (p.Arg372Cys)
|
|
|
|
NM_000308.4(CTSA):c.115C>G (p.Pro39Ala)
|
rs1483740187
|
|
|
NM_000308.4(CTSA):c.1163A>G (p.Gln388Arg)
|
|
|
|
NM_000308.4(CTSA):c.1231T>C (p.Phe411Leu)
|
rs2145823811
|
|
|
NM_000308.4(CTSA):c.1234G>A (p.Val412Met)
|
|
|
|
NM_000308.4(CTSA):c.1247A>G (p.Asn416Ser)
|
rs2145823832
|
|
|
NM_000308.4(CTSA):c.1254+5G>T
|
|
|
|
NM_000308.4(CTSA):c.1254+6del
|
rs1433470100
|
|
|
NM_000308.4(CTSA):c.1255-3C>A
|
|
|
|
NM_000308.4(CTSA):c.1255-7G>A
|
|
|
|
NM_000308.4(CTSA):c.1267C>T (p.Arg423Cys)
|
|
|
|
NM_000308.4(CTSA):c.1359+6G>T
|
|
|
|
NM_000308.4(CTSA):c.1383C>T (p.Thr461=)
|
|
|
|
NM_000308.4(CTSA):c.176C>T (p.Ser59Phe)
|
|
|
|
NM_000308.4(CTSA):c.191A>C (p.Tyr64Ser)
|
|
|
|
NM_000308.4(CTSA):c.194+3C>T
|
rs1986958974
|
|
|
NM_000308.4(CTSA):c.195-12C>G
|
|
|
|
NM_000308.4(CTSA):c.1A>G (p.Met1Val)
|
|
|
|
NM_000308.4(CTSA):c.233T>C (p.Val78Ala)
|
rs1055279552
|
|
|
NM_000308.4(CTSA):c.248A>G (p.Asn83Ser)
|
rs758876717
|
|
|
NM_000308.4(CTSA):c.254G>T (p.Gly85Val)
|
rs1360623902
|
|
|
NM_000308.4(CTSA):c.257C>T (p.Pro86Leu)
|
rs2145814296
|
|
|
NM_000308.4(CTSA):c.33GCT[10] (p.Leu18_Leu19dup)
|
rs72555383
|
|
|
NM_000308.4(CTSA):c.33GCT[11] (p.Leu17_Leu19dup)
|
rs72555383
|
|
|
NM_000308.4(CTSA):c.33GCT[4] (p.Leu16_Leu19del)
|
rs72555383
|
|
|
NM_000308.4(CTSA):c.33GCT[5] (p.Leu17_Leu19del)
|
rs72555383
|
|
|
NM_000308.4(CTSA):c.357+3A>G
|
rs1413013327
|
|
|
NM_000308.4(CTSA):c.359T>C (p.Ile120Thr)
|
rs1601139705
|
|
|
NM_000308.4(CTSA):c.380A>T (p.Glu127Val)
|
rs2145815136
|
|
|
NM_000308.4(CTSA):c.388G>C (p.Ala130Pro)
|
rs376642070
|
|
|
NM_000308.4(CTSA):c.425A>G (p.Tyr142Cys)
|
rs2145815279
|
|
|
NM_000308.4(CTSA):c.428C>T (p.Ala143Val)
|
|
|
|
NM_000308.4(CTSA):c.44T>A (p.Leu15Gln)
|
|
|
|
NM_000308.4(CTSA):c.467C>T (p.Ala156Val)
|
|
|
|
NM_000308.4(CTSA):c.484C>T (p.Arg162Cys)
|
|
|
|
NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del)
|
rs886039898
|
|
|
NM_000308.4(CTSA):c.535T>C (p.Tyr179His)
|
|
|
|
NM_000308.4(CTSA):c.553C>A (p.Pro185Thr)
|
|
|
|
NM_000308.4(CTSA):c.565G>A (p.Val189Met)
|
|
|
|
NM_000308.4(CTSA):c.594C>A (p.Asn198Lys)
|
rs147908449
|
|
|
NM_000308.4(CTSA):c.632A>T (p.Tyr211Phe)
|
|
|
|
NM_000308.4(CTSA):c.67G>A (p.Ala23Thr)
|
rs1986939703
|
|
|
NM_000308.4(CTSA):c.753C>A (p.Asn251Lys)
|
|
|
|
NM_000308.4(CTSA):c.755A>G (p.Lys252Arg)
|
rs1412365614
|
|
|
NM_000308.4(CTSA):c.772A>G (p.Thr258Ala)
|
|
|
|
NM_000308.4(CTSA):c.799G>A (p.Val267Met)
|
rs1327727683
|
|
|
NM_000308.4(CTSA):c.830T>C (p.Leu277Pro)
|
rs1987145050
|
|
|
NM_000308.4(CTSA):c.847G>A (p.Gly283Arg)
|
|
|
|
NM_000308.4(CTSA):c.848G>C (p.Gly283Ala)
|
|
|
|
NM_000308.4(CTSA):c.874G>C (p.Glu292Gln)
|
rs771968194
|
|
|
NM_000308.4(CTSA):c.892G>T (p.Val298Phe)
|
|
|
|
NM_000308.4(CTSA):c.911T>C (p.Ile304Thr)
|
|
|
|
NM_000308.4(CTSA):c.919C>T (p.Arg307Cys)
|
rs2145819152
|
|
|
NM_000308.4(CTSA):c.91G>A (p.Asp31Asn)
|
rs961795659
|
|
|
NM_000308.4(CTSA):c.931A>C (p.Lys311Gln)
|
|
|
|
NM_000308.4(CTSA):c.935G>A (p.Arg312Gln)
|
|
|
|
NM_000308.4(CTSA):c.948G>A (p.Gln316=)
|
rs2145819241
|
|
|
NM_000308.4(CTSA):c.967G>A (p.Asp323Asn)
|
|
|
|
NM_000308.4(CTSA):c.97G>A (p.Asp33Asn)
|
rs2145813484
|
|
|
NM_000308.4(CTSA):c.985C>A (p.Pro329Thr)
|
rs746428492
|
|
|
NM_000308.4(CTSA):c.985C>G (p.Pro329Ala)
|
rs746428492
|
|
|
NM_000340.2(SLC2A2):c.100C>A (p.Pro34Thr)
|
|
|
|
NM_000340.2(SLC2A2):c.1118T>C (p.Met373Thr)
|
rs1715228241
|
|
|
NM_000340.2(SLC2A2):c.1142T>A (p.Ile381Asn)
|
|
|
|
NM_000340.2(SLC2A2):c.114A>G (p.Ile38Met)
|
rs2108257085
|
|
|
NM_000340.2(SLC2A2):c.1172A>G (p.Asn391Ser)
|
|
|
|
NM_000340.2(SLC2A2):c.1191T>G (p.Ser397Arg)
|
rs2108233305
|
|
|
NM_000340.2(SLC2A2):c.1205T>C (p.Ile402Thr)
|
|
|
|
NM_000340.2(SLC2A2):c.1250C>A (p.Pro417Gln)
|
|
|
|
NM_000340.2(SLC2A2):c.1267G>T (p.Val423Leu)
|
|
|
|
NM_000340.2(SLC2A2):c.1298C>T (p.Pro433Leu)
|
rs2108233104
|
|
|
NM_000340.2(SLC2A2):c.130C>T (p.His44Tyr)
|
|
|
|
NM_000340.2(SLC2A2):c.1349T>C (p.Val450Ala)
|
|
|
|
NM_000340.2(SLC2A2):c.134T>A (p.Val45Asp)
|
|
|
|
NM_000340.2(SLC2A2):c.1373C>T (p.Ala458Val)
|
|
|
|
NM_000340.2(SLC2A2):c.1373_1374+2dup
|
rs2108232881
|
|
|
NM_000340.2(SLC2A2):c.1375-20T>G
|
|
|
|
NM_000340.2(SLC2A2):c.1403T>G (p.Leu468Arg)
|
|
|
|
NM_000340.2(SLC2A2):c.1471T>A (p.Ser491Thr)
|
|
|
|
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys)
|
rs1560031152
|
|
|
NM_000340.2(SLC2A2):c.1490C>T (p.Ala497Val)
|
|
|
|
NM_000340.2(SLC2A2):c.1549T>C (p.Phe517Leu)
|
rs2108232309
|
|
|
NM_000340.2(SLC2A2):c.195T>A (p.Asp65Glu)
|
|
|
|
NM_000340.2(SLC2A2):c.20C>A (p.Thr7Asn)
|
|
|
|
NM_000340.2(SLC2A2):c.220A>G (p.Met74Val)
|
|
|
|
NM_000340.2(SLC2A2):c.226C>G (p.Pro76Ala)
|
|
|
|
NM_000340.2(SLC2A2):c.355G>A (p.Gly119Arg)
|
|
|
|
NM_000340.2(SLC2A2):c.379G>T (p.Ala127Ser)
|
rs1576833940
|
|
|
NM_000340.2(SLC2A2):c.409G>C (p.Val137Leu)
|
|
|
|
NM_000340.2(SLC2A2):c.415G>A (p.Ala139Thr)
|
|
|
|
NM_000340.2(SLC2A2):c.457_462del (p.Leu153_Ile154del)
|
rs763620441
|
|
|
NM_000340.2(SLC2A2):c.482C>T (p.Ser161Leu)
|
|
|
|
NM_000340.2(SLC2A2):c.496+6T>A
|
|
|
|
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr)
|
rs1293130515
|
|
|
NM_000340.2(SLC2A2):c.529G>A (p.Gly177Ser)
|
|
|
|
NM_000340.2(SLC2A2):c.559G>A (p.Ala187Thr)
|
rs200213178
|
|
|
NM_000340.2(SLC2A2):c.58G>T (p.Gly20Cys)
|
rs2108262047
|
|
|
NM_000340.2(SLC2A2):c.733T>C (p.Tyr245His)
|
|
|
|
NM_000340.2(SLC2A2):c.739T>C (p.Tyr247His)
|
|
|
|
NM_000340.2(SLC2A2):c.73G>A (p.Gly25Arg)
|
|
|
|
NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del)
|
rs774721090
|
|
|
NM_000340.2(SLC2A2):c.80A>T (p.Asp27Val)
|
rs2108262016
|
|
|
NM_000340.2(SLC2A2):c.833A>C (p.Lys278Thr)
|
|
|
|
NM_000340.2(SLC2A2):c.841G>A (p.Glu281Lys)
|
|
|
|
NM_000340.2(SLC2A2):c.872T>A (p.Ile291Lys)
|
|
|
|
NM_000340.2(SLC2A2):c.881T>A (p.Leu294His)
|
|
|
|
NM_000340.2(SLC2A2):c.902G>T (p.Arg301Leu)
|
|
|
|
NM_000340.2(SLC2A2):c.914T>C (p.Leu305Pro)
|
|
|
|
NM_000340.2(SLC2A2):c.97G>A (p.Ala33Thr)
|
|
|
|
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys)
|
rs768831308
|
|
|
NM_000343.4(SLC5A1):c.1030G>T (p.Ala344Ser)
|
rs2149492818
|
|
|
NM_000343.4(SLC5A1):c.1088A>G (p.Asn363Ser)
|
|
|
|
NM_000343.4(SLC5A1):c.1097A>G (p.Tyr366Cys)
|
rs2149492851
|
|
|
NM_000343.4(SLC5A1):c.1129+6_1129+7delinsTG
|
rs2149492872
|
|
|
NM_000343.4(SLC5A1):c.1171A>C (p.Met391Leu)
|
rs1359279768
|
|
|
NM_000343.4(SLC5A1):c.1202C>T (p.Ala401Val)
|
rs2149494224
|
|
|
NM_000343.4(SLC5A1):c.1241G>A (p.Arg414His)
|
rs199573966
|
|
|
NM_000343.4(SLC5A1):c.1256A>T (p.Glu419Val)
|
|
|
|
NM_000343.4(SLC5A1):c.1315G>A (p.Ala439Thr)
|
|
|
|
NM_000343.4(SLC5A1):c.1339G>A (p.Ala447Thr)
|
|
|
|
NM_000343.4(SLC5A1):c.1371G>C (p.Gln457His)
|
rs2149496672
|
|
|
NM_000343.4(SLC5A1):c.1403C>A (p.Ala468Glu)
|
rs200406921
|
|
|
NM_000343.4(SLC5A1):c.1403C>T (p.Ala468Val)
|
|
|
|
NM_000343.4(SLC5A1):c.1404G>A (p.Ala468=)
|
rs767459349
|
|
|
NM_000343.4(SLC5A1):c.1431G>T (p.Trp477Cys)
|
|
|
|
NM_000343.4(SLC5A1):c.1449A>G (p.Pro483=)
|
|
|
|
NM_000343.4(SLC5A1):c.155G>A (p.Arg52His)
|
rs773674977
|
|
|
NM_000343.4(SLC5A1):c.1570G>A (p.Val524Met)
|
rs2149497555
|
|
|
NM_000343.4(SLC5A1):c.1628T>G (p.Val543Gly)
|
|
|
|
NM_000343.4(SLC5A1):c.164T>C (p.Val55Ala)
|
rs2093943146
|
|
|
NM_000343.4(SLC5A1):c.1672C>T (p.Arg558Cys)
|
|
|
|
NM_000343.4(SLC5A1):c.1691G>A (p.Arg564His)
|
|
|
|
NM_000343.4(SLC5A1):c.1697G>A (p.Ser566Asn)
|
rs1390196310
|
|
|
NM_000343.4(SLC5A1):c.16T>C (p.Trp6Arg)
|
|
|
|
NM_000343.4(SLC5A1):c.1711A>G (p.Ile571Val)
|
|
|
|
NM_000343.4(SLC5A1):c.1724C>A (p.Ala575Glu)
|
rs185883847
|
|
|
NM_000343.4(SLC5A1):c.1732G>A (p.Glu578Lys)
|
rs1396167742
|
|
|
NM_000343.4(SLC5A1):c.1744G>A (p.Glu582Lys)
|
|
|
|
NM_000343.4(SLC5A1):c.1814C>T (p.Ala605Val)
|
rs2094053423
|
|
|
NM_000343.4(SLC5A1):c.182C>A (p.Ala61Glu)
|
rs1277952619
|
|
|
NM_000343.4(SLC5A1):c.1886AGATGA[3] (p.Met632_Thr633insLysMet)
|
|
|
|
NM_000343.4(SLC5A1):c.1889T>A (p.Met630Lys)
|
|
|
|
NM_000343.4(SLC5A1):c.1915C>G (p.Pro639Ala)
|
rs200684333
|
|
|
NM_000343.4(SLC5A1):c.194T>C (p.Met65Thr)
|
|
|
|
NM_000343.4(SLC5A1):c.196G>A (p.Val66Met)
|
|
|
|
NM_000343.4(SLC5A1):c.1994G>A (p.Ter665=)
|
|
|
|
NM_000343.4(SLC5A1):c.218C>T (p.Ser73Phe)
|
rs762929535
|
|
|
NM_000343.4(SLC5A1):c.265G>A (p.Gly89Arg)
|
|
|
|
NM_000343.4(SLC5A1):c.272G>C (p.Gly91Ala)
|
rs2149487772
|
|
|
NM_000343.4(SLC5A1):c.277G>A (p.Ala93Thr)
|
|
|
|
NM_000343.4(SLC5A1):c.307T>G (p.Trp103Gly)
|
|
|
|
NM_000343.4(SLC5A1):c.323T>C (p.Leu108Ser)
|
|
|
|
NM_000343.4(SLC5A1):c.372G>A (p.Gly124=)
|
|
|
|
NM_000343.4(SLC5A1):c.419G>A (p.Arg140Gln)
|
|
|
|
NM_000343.4(SLC5A1):c.41C>T (p.Thr14Ile)
|
rs2149481647
|
|
|
NM_000343.4(SLC5A1):c.478-11T>A
|
|
|
|
NM_000343.4(SLC5A1):c.536T>C (p.Leu179Ser)
|
rs2149491664
|
|
|
NM_000343.4(SLC5A1):c.559A>G (p.Ile187Val)
|
|
|
|
NM_000343.4(SLC5A1):c.581C>T (p.Thr194Ile)
|
|
|
|
NM_000343.4(SLC5A1):c.583+3G>A
|
|
|
|
NM_000343.4(SLC5A1):c.593C>T (p.Ala198Val)
|
|
|
|
NM_000343.4(SLC5A1):c.596C>T (p.Ala199Val)
|
|
|
|
NM_000343.4(SLC5A1):c.697A>G (p.Met233Val)
|
|
|
|
NM_000343.4(SLC5A1):c.759A>T (p.Glu253Asp)
|
|
|
|
NM_000343.4(SLC5A1):c.760A>G (p.Lys254Glu)
|
rs145740433
|
|
|
NM_000343.4(SLC5A1):c.812C>T (p.Thr271Met)
|
|
|
|
NM_000343.4(SLC5A1):c.839T>C (p.Ile280Thr)
|
rs2149492356
|
|
|
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val)
|
rs139037092
|
|
|
NM_000343.4(SLC5A1):c.885+5C>T
|
rs199536443
|
|
|
NM_000343.4(SLC5A1):c.898C>T (p.Arg300Cys)
|
rs201079555
|
|
|
NM_000343.4(SLC5A1):c.915_917del (p.Lys305del)
|
|
|
|
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)
|
rs137852320
|
|
|
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)
|
rs137852337
|
|
|
NM_000404.4(GLB1):c.1018G>A (p.Ala340Thr)
|
|
|
|
NM_000404.4(GLB1):c.1026C>A (p.Asp342Glu)
|
rs2125514060
|
|
|
NM_000404.4(GLB1):c.1030A>G (p.Thr344Ala)
|
|
|
|
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu)
|
rs727503953
|
|
|
NM_000404.4(GLB1):c.1084G>A (p.Glu362Lys)
|
|
|
|
NM_000404.4(GLB1):c.1088G>A (p.Gly363Asp)
|
rs189503132
|
|
|
NM_000404.4(GLB1):c.1095C>G (p.Ile365Met)
|
|
|
|
NM_000404.4(GLB1):c.1120T>C (p.Tyr374His)
|
|
|
|
NM_000404.4(GLB1):c.1121A>T (p.Tyr374Phe)
|
|
|
|
NM_000404.4(GLB1):c.113G>A (p.Arg38Gln)
|
|
|
|
NM_000404.4(GLB1):c.1184C>T (p.Ser395Phe)
|
|
|
|
NM_000404.4(GLB1):c.1198A>C (p.Ser400Arg)
|
|
|
|
NM_000404.4(GLB1):c.119C>T (p.Ser40Phe)
|
|
|
|
NM_000404.4(GLB1):c.1201C>A (p.Leu401Ile)
|
rs1402467081
|
|
|
NM_000404.4(GLB1):c.1223A>G (p.Gln408Arg)
|
rs72555369
|
|
|
NM_000404.4(GLB1):c.1228A>C (p.Lys410Gln)
|
|
|
|
NM_000404.4(GLB1):c.1232A>C (p.Gln411Pro)
|
|
|
|
NM_000404.4(GLB1):c.1233+15G>A
|
|
|
|
NM_000404.4(GLB1):c.1234-3C>A
|
|
|
|
NM_000404.4(GLB1):c.1273G>C (p.Asp425His)
|
|
|
|
NM_000404.4(GLB1):c.1279A>G (p.Ser427Gly)
|
|
|
|
NM_000404.4(GLB1):c.1306C>G (p.Leu436Val)
|
rs34421970
|
|
|
NM_000404.4(GLB1):c.1333G>A (p.Val445Ile)
|
|
|
|
NM_000404.4(GLB1):c.1348-3C>G
|
rs1697255114
|
|
|
NM_000404.4(GLB1):c.1351C>T (p.Pro451Ser)
|
rs267599772
|
|
|
NM_000404.4(GLB1):c.1360G>A (p.Val454Ile)
|
rs1398424263
|
|
|
NM_000404.4(GLB1):c.1370_1372dup (p.Arg457dup)
|
rs2125467100
|
|
|
NM_000404.4(GLB1):c.1375_1377del (p.Asn459del)
|
|
|
|
NM_000404.4(GLB1):c.137_138delinsCC (p.Gln46Pro)
|
|
|
|
NM_000404.4(GLB1):c.1384A>G (p.Thr462Ala)
|
|
|
|
NM_000404.4(GLB1):c.1423C>T (p.Leu475Phe)
|
|
|
|
NM_000404.4(GLB1):c.1426C>G (p.Leu476Val)
|
rs113534264
|
|
|
NM_000404.4(GLB1):c.1437C>A (p.Asn479Lys)
|
|
|
|
NM_000404.4(GLB1):c.1501C>G (p.Leu501Val)
|
|
|
|
NM_000404.4(GLB1):c.1505G>A (p.Ser502Asn)
|
|
|
|
NM_000404.4(GLB1):c.1508C>A (p.Ser503Tyr)
|
|
|
|
NM_000404.4(GLB1):c.1516C>A (p.Leu506Ile)
|
|
|
|
NM_000404.4(GLB1):c.1520C>T (p.Thr507Met)
|
|
|
|
NM_000404.4(GLB1):c.1537C>T (p.Pro513Ser)
|
|
|
|
NM_000404.4(GLB1):c.1556C>T (p.Ala519Val)
|
rs2125463380
|
|
|
NM_000404.4(GLB1):c.1561_1562inv (p.Cys521His)
|
|
|
|
NM_000404.4(GLB1):c.1585C>T (p.His529Tyr)
|
|
|
|
NM_000404.4(GLB1):c.1612G>A (p.Ala538Thr)
|
|
|
|
NM_000404.4(GLB1):c.1640C>T (p.Thr547Met)
|
|
|
|
NM_000404.4(GLB1):c.1672A>G (p.Ile558Val)
|
|
|
|
NM_000404.4(GLB1):c.168C>G (p.His56Gln)
|
rs745385633
|
|
|
NM_000404.4(GLB1):c.1724_1725delinsTG (p.Gly575Val)
|
|
|
|
NM_000404.4(GLB1):c.1734+4C>T
|
|
|
|
NM_000404.4(GLB1):c.173C>T (p.Ser58Phe)
|
rs1302203983
|
|
|
NM_000404.4(GLB1):c.1784G>A (p.Arg595Gln)
|
rs199694629
|
|
|
NM_000404.4(GLB1):c.1787G>A (p.Gly596Asp)
|
rs1696348575
|
|
|
NM_000404.4(GLB1):c.184C>T (p.Arg62Cys)
|
|
|
|
NM_000404.4(GLB1):c.1855C>A (p.Leu619Met)
|
|
|
|
NM_000404.4(GLB1):c.1897C>G (p.Leu633Val)
|
|
|
|
NM_000404.4(GLB1):c.189C>G (p.Phe63Leu)
|
|
|
|
NM_000404.4(GLB1):c.1903G>T (p.Ala635Ser)
|
|
|
|
NM_000404.4(GLB1):c.1951G>A (p.Asp651Asn)
|
|
|
|
NM_000404.4(GLB1):c.1969G>A (p.Val657Ile)
|
|
|
|
NM_000404.4(GLB1):c.1979G>A (p.Arg660Lys)
|
|
|
|
NM_000404.4(GLB1):c.1981C>T (p.Leu661Phe)
|
|
|
|
NM_000404.4(GLB1):c.1990C>T (p.Pro664Ser)
|
|
|
|
NM_000404.4(GLB1):c.1997C>T (p.Pro666Leu)
|
rs754538192
|
|
|
NM_000404.4(GLB1):c.2006del (p.Asn669fs)
|
rs759633494
|
|
|
NM_000404.4(GLB1):c.2008A>G (p.Lys670Glu)
|
rs2125442597
|
|
|
NM_000404.4(GLB1):c.2012A>G (p.Asp671Gly)
|
|
|
|
NM_000404.4(GLB1):c.209T>C (p.Leu70Pro)
|
|
|
|
NM_000404.4(GLB1):c.218A>G (p.Lys73Arg)
|
rs776889510
|
|
|
NM_000404.4(GLB1):c.245+3A>G
|
|
|
|
NM_000404.4(GLB1):c.245+6T>C
|
|
|
|
NM_000404.4(GLB1):c.246-16GT[2]
|
|
|
|
NM_000404.4(GLB1):c.262T>C (p.Phe88Leu)
|
|
|
|
NM_000404.4(GLB1):c.268G>C (p.Glu90Gln)
|
|
|
|
NM_000404.4(GLB1):c.278C>A (p.Pro93Gln)
|
|
|
|
NM_000404.4(GLB1):c.281G>A (p.Gly94Glu)
|
rs1430354883
|
|
|
NM_000404.4(GLB1):c.326G>A (p.Arg109Gln)
|
|
|
|
NM_000404.4(GLB1):c.331G>A (p.Ala111Thr)
|
|
|
|
NM_000404.4(GLB1):c.357C>G (p.Ile119Met)
|
|
|
|
NM_000404.4(GLB1):c.376A>G (p.Ile126Val)
|
rs886058343
|
|
|
NM_000404.4(GLB1):c.399A>G (p.Gly133=)
|
|
|
|
NM_000404.4(GLB1):c.454C>A (p.Pro152Thr)
|
|
|
|
NM_000404.4(GLB1):c.457+3A>G
|
|
|
|
NM_000404.4(GLB1):c.467C>T (p.Ala156Val)
|
|
|
|
NM_000404.4(GLB1):c.4C>G (p.Pro2Ala)
|
rs772539129
|
|
|
NM_000404.4(GLB1):c.581C>T (p.Ala194Val)
|
|
|
|
NM_000404.4(GLB1):c.586G>C (p.Asp196His)
|
rs2125533137
|
|
|
NM_000404.4(GLB1):c.592G>C (p.Asp198His)
|
|
|
|
NM_000404.4(GLB1):c.5C>T (p.Pro2Leu)
|
|
|
|
NM_000404.4(GLB1):c.617G>A (p.Arg206His)
|
|
|
|
NM_000404.4(GLB1):c.623G>T (p.Arg208Leu)
|
|
|
|
NM_000404.4(GLB1):c.625C>T (p.His209Tyr)
|
rs1699296800
|
|
|
NM_000404.4(GLB1):c.62C>T (p.Thr21Met)
|
|
|
|
NM_000404.4(GLB1):c.670C>G (p.His224Asp)
|
|
|
|
NM_000404.4(GLB1):c.67G>A (p.Gly23Ser)
|
|
|
|
NM_000404.4(GLB1):c.68G>A (p.Gly23Asp)
|
|
|
|
NM_000404.4(GLB1):c.697C>A (p.Leu233Met)
|
|
|
|
NM_000404.4(GLB1):c.712A>G (p.Thr238Ala)
|
rs750237687
|
|
|
NM_000404.4(GLB1):c.751G>A (p.Ala251Thr)
|
rs1423200446
|
|
|
NM_000404.4(GLB1):c.779C>A (p.Pro260His)
|
rs2125525594
|
|
|
NM_000404.4(GLB1):c.806T>C (p.Phe269Ser)
|
|
|
|
NM_000404.4(GLB1):c.837A>C (p.Gln279His)
|
|
|
|
NM_000404.4(GLB1):c.838C>G (p.Pro280Ala)
|
|
|
|
NM_000404.4(GLB1):c.838C>T (p.Pro280Ser)
|
|
|
|
NM_000404.4(GLB1):c.87G>T (p.Gln29His)
|
|
|
|
NM_000404.4(GLB1):c.895C>T (p.Arg299Cys)
|
|
|
|
NM_000404.4(GLB1):c.905G>A (p.Ser302Asn)
|
|
|
|
NM_000404.4(GLB1):c.905G>C (p.Ser302Thr)
|
|
|
|
NM_000404.4(GLB1):c.905G>T (p.Ser302Ile)
|
rs2125523018
|
|
|
NM_000404.4(GLB1):c.911A>G (p.Asn304Ser)
|
|
|
|
NM_000404.4(GLB1):c.914+15_914+16delinsAGTGTGAACTTGTGAGTGTTT
|
|
|
|
NM_000404.4(GLB1):c.914+5G>A
|
|
|
|
NM_000404.4(GLB1):c.915G>C (p.Leu305Phe)
|
|
|
|
NM_000404.4(GLB1):c.956G>A (p.Gly319Glu)
|
rs2125514180
|
|
|
NM_000404.4(GLB1):c.967C>G (p.Pro323Ala)
|
rs1575445193
|
|
|
NM_000507.4(FBP1):c.1012del (p.Gln338fs)
|
|
|
|
NM_000507.4(FBP1):c.271G>T (p.Ala91Ser)
|
rs41316538
|
|
|
NM_000507.4(FBP1):c.323C>T (p.Pro108Leu)
|
|
|
|
NM_000507.4(FBP1):c.451A>C (p.Lys151Gln)
|
rs1827760551
|
|
|
NM_000507.4(FBP1):c.479T>G (p.Leu160Arg)
|
|
|
|
NM_000507.4(FBP1):c.527T>G (p.Leu176Arg)
|
|
|
|
NM_000507.4(FBP1):c.697T>C (p.Phe233Leu)
|
rs2297085
|
|
|
NM_000507.4(FBP1):c.704C>T (p.Pro235Leu)
|
|
|
|
NM_000507.4(FBP1):c.763C>T (p.Arg255Cys)
|
rs944699141
|
|
|
NM_000507.4(FBP1):c.926C>A (p.Thr309Lys)
|
|
|
|
NM_000507.4(FBP1):c.959_960delinsTG (p.Gly320Val)
|
|
|
|
NM_000507.4(FBP1):c.971A>G (p.Asp324Gly)
|
rs1827640590
|
|
|
NM_000507.4(FBP1):c.985C>A (p.Leu329Met)
|
rs2131469421
|
|
|
NM_000512.5(GALNS):c.1002+4A>T
|
|
|
|
NM_000512.5(GALNS):c.100C>G (p.Leu34Val)
|
rs1352806619
|
|
|
NM_000512.5(GALNS):c.1016T>G (p.Leu339Arg)
|
rs1244322663
|
|
|
NM_000512.5(GALNS):c.1051G>T (p.Ala351Ser)
|
|
|
|
NM_000512.5(GALNS):c.1055T>C (p.Leu352Pro)
|
rs2142995830
|
|
|
NM_000512.5(GALNS):c.1058C>T (p.Ala353Val)
|
rs774113183
|
|
|
NM_000512.5(GALNS):c.112A>C (p.Met38Leu)
|
rs1306083557
|
|
|
NM_000512.5(GALNS):c.1139G>A (p.Arg380Lys)
|
|
|
|
NM_000512.5(GALNS):c.115G>T (p.Asp39Tyr)
|
rs2143013504
|
|
|
NM_000512.5(GALNS):c.1160G>A (p.Gly387Asp)
|
|
|
|
NM_000512.5(GALNS):c.1166C>T (p.Thr389Met)
|
|
|
|
NM_000512.5(GALNS):c.1183C>G (p.Leu395Val)
|
rs767701478
|
|
|
NM_000512.5(GALNS):c.120+4A>G
|
rs1213209894
|
|
|
NM_000512.5(GALNS):c.1207TGGACC[1] (p.403WT[1])
|
rs1567519128
|
|
|
NM_000512.5(GALNS):c.1210A>C (p.Thr404Pro)
|
rs2142993800
|
|
|
NM_000512.5(GALNS):c.1262G>A (p.Gly421Glu)
|
rs2142992401
|
|
|
NM_000512.5(GALNS):c.1270G>A (p.Val424Ile)
|
|
|
|
NM_000512.5(GALNS):c.1418A>G (p.Gln473Arg)
|
rs1909825123
|
|
|
NM_000512.5(GALNS):c.1423C>A (p.His475Asn)
|
rs749297663
|
|
|
NM_000512.5(GALNS):c.1481T>C (p.Met494Thr)
|
rs2142982062
|
|
|
NM_000512.5(GALNS):c.1482+5G>C
|
|
|
|
NM_000512.5(GALNS):c.1488G>T (p.Trp496Cys)
|
rs1355113466
|
|
|
NM_000512.5(GALNS):c.1498G>T (p.Gly500Cys)
|
rs1303492021
|
|
|
NM_000512.5(GALNS):c.1531C>G (p.Pro511Ala)
|
|
|
|
NM_000512.5(GALNS):c.1531C>T (p.Pro511Ser)
|
|
|
|
NM_000512.5(GALNS):c.1555C>T (p.Leu519Phe)
|
rs1597515354
|
|
|
NM_000512.5(GALNS):c.170C>T (p.Pro57Leu)
|
|
|
|
NM_000512.5(GALNS):c.173A>G (p.Asn58Ser)
|
|
|
|
NM_000512.5(GALNS):c.211A>G (p.Asn71Asp)
|
|
|
|
NM_000512.5(GALNS):c.213C>G (p.Asn71Lys)
|
|
|
|
NM_000512.5(GALNS):c.23C>G (p.Thr8Arg)
|
rs2143013653
|
|
|
NM_000512.5(GALNS):c.376G>C (p.Glu126Gln)
|
rs1177468816
|
|
|
NM_000512.5(GALNS):c.423-16G>A
|
|
|
|
NM_000512.5(GALNS):c.425A>G (p.His142Arg)
|
rs1288895691
|
|
|
NM_000512.5(GALNS):c.446T>G (p.Phe149Cys)
|
rs2143002458
|
|
|
NM_000512.5(GALNS):c.46G>T (p.Val16Leu)
|
|
|
|
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)
|
rs148565559
|
|
|
NM_000512.5(GALNS):c.513CAA[1] (p.Asn172del)
|
|
|
|
NM_000512.5(GALNS):c.566+6G>A
|
rs1912274502
|
|
|
NM_000512.5(GALNS):c.587T>A (p.Ile196Asn)
|
rs759502513
|
|
|
NM_000512.5(GALNS):c.634-5C>G
|
rs1354095513
|
|
|
NM_000512.5(GALNS):c.692C>T (p.Ala231Val)
|
|
|
|
NM_000512.5(GALNS):c.704C>T (p.Thr235Met)
|
|
|
|
NM_000512.5(GALNS):c.707_708inv (p.His236Arg)
|
|
|
|
NM_000512.5(GALNS):c.754G>A (p.Gly252Arg)
|
|
|
|
NM_000512.5(GALNS):c.758+3G>A
|
|
|
|
NM_000512.5(GALNS):c.77G>A (p.Gly26Asp)
|
rs1210023208
|
|
|
NM_000512.5(GALNS):c.828C>G (p.His276Gln)
|
rs759216815
|
|
|
NM_000512.5(GALNS):c.848T>C (p.Val283Ala)
|
|
|
|
NM_000512.5(GALNS):c.865A>C (p.Asn289His)
|
rs1314520034
|
|
|
NM_000512.5(GALNS):c.886G>A (p.Ala296Thr)
|
|
|
|
NM_000512.5(GALNS):c.899G>T (p.Gly300Val)
|
rs780778562
|
|
|
NM_000512.5(GALNS):c.89C>T (p.Pro30Leu)
|
rs1298604798
|
|
|
NM_000512.5(GALNS):c.924T>G (p.Cys308Trp)
|
rs1567526988
|
|
|
NM_000512.5(GALNS):c.930G>C (p.Lys310Asn)
|
rs377285422
|
|
|
NM_000512.5(GALNS):c.960G>T (p.Glu320Asp)
|
rs1213435795
|
|
|
NM_000512.5(GALNS):c.964G>C (p.Ala322Pro)
|
rs1597559500
|
|
|
NM_000512.5(GALNS):c.970G>T (p.Ala324Ser)
|
rs569725890
|
|
|
NM_000528.4(MAN2B1):c.1003C>T (p.Leu335Phe)
|
rs2145272792
|
|
|
NM_000528.4(MAN2B1):c.1009C>T (p.Arg337Trp)
|
|
|
|
NM_000528.4(MAN2B1):c.100C>A (p.Pro34Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.1015G>A (p.Val339Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.1016T>C (p.Val339Ala)
|
|
|
|
NM_000528.4(MAN2B1):c.1027-7C>G
|
|
|
|
NM_000528.4(MAN2B1):c.1066C>G (p.Pro356Ala)
|
rs2145262130
|
|
|
NM_000528.4(MAN2B1):c.1078C>G (p.Leu360Val)
|
rs2145262015
|
|
|
NM_000528.4(MAN2B1):c.1087C>G (p.Leu363Val)
|
|
|
|
NM_000528.4(MAN2B1):c.1110-18A>G
|
|
|
|
NM_000528.4(MAN2B1):c.1169G>C (p.Gly390Ala)
|
|
|
|
NM_000528.4(MAN2B1):c.1199G>A (p.Arg400His)
|
|
|
|
NM_000528.4(MAN2B1):c.1204G>C (p.Glu402Gln)
|
|
|
|
NM_000528.4(MAN2B1):c.1230+3G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1230+8G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1250C>T (p.Ala417Val)
|
|
|
|
NM_000528.4(MAN2B1):c.1259G>A (p.Gly420Asp)
|
rs772853856
|
|
|
NM_000528.4(MAN2B1):c.1271A>G (p.Asn424Ser)
|
rs1322106502
|
|
|
NM_000528.4(MAN2B1):c.128C>A (p.Ala43Glu)
|
rs867517934
|
|
|
NM_000528.4(MAN2B1):c.1299T>A (p.Ser433Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.1310A>G (p.Asn437Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.1350C>A (p.Ser450Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.1375_1377del (p.Asn459del)
|
|
|
|
NM_000528.4(MAN2B1):c.1408G>A (p.Gly470Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.1419+5G>T
|
rs540367946
|
|
|
NM_000528.4(MAN2B1):c.1419G>A (p.Glu473=)
|
|
|
|
NM_000528.4(MAN2B1):c.142C>G (p.Arg48Gly)
|
|
|
|
NM_000528.4(MAN2B1):c.1454G>C (p.Gly485Ala)
|
rs373553609
|
|
|
NM_000528.4(MAN2B1):c.1454G>T (p.Gly485Val)
|
|
|
|
NM_000528.4(MAN2B1):c.1461A>C (p.Lys487Asn)
|
|
|
|
NM_000528.4(MAN2B1):c.1472C>T (p.Thr491Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.1492A>G (p.Ile498Val)
|
rs1339651416
|
|
|
NM_000528.4(MAN2B1):c.1494C>G (p.Ile498Met)
|
|
|
|
NM_000528.4(MAN2B1):c.1511G>C (p.Ser504Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.1517C>A (p.Thr506Lys)
|
rs139255957
|
|
|
NM_000528.4(MAN2B1):c.1520C>T (p.Ala507Val)
|
|
|
|
NM_000528.4(MAN2B1):c.1525C>T (p.Arg509Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.1527+3G>C
|
|
|
|
NM_000528.4(MAN2B1):c.1541T>C (p.Val514Ala)
|
rs1599349485
|
|
|
NM_000528.4(MAN2B1):c.1554G>A (p.Leu518=)
|
|
|
|
NM_000528.4(MAN2B1):c.1596A>C (p.Glu532Asp)
|
rs2023965888
|
|
|
NM_000528.4(MAN2B1):c.1598G>A (p.Gly533Asp)
|
rs2145253098
|
|
|
NM_000528.4(MAN2B1):c.1606G>A (p.Val536Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.1631C>T (p.Thr544Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe)
|
rs864621975
|
|
|
NM_000528.4(MAN2B1):c.1652T>C (p.Ile551Thr)
|
rs1475575364
|
|
|
NM_000528.4(MAN2B1):c.1660A>G (p.Ser554Gly)
|
|
|
|
NM_000528.4(MAN2B1):c.1667A>C (p.Asp556Ala)
|
|
|
|
NM_000528.4(MAN2B1):c.1682C>A (p.Pro561His)
|
|
|
|
NM_000528.4(MAN2B1):c.1682C>G (p.Pro561Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.1684C>T (p.Pro562Ser)
|
rs1303843843
|
|
|
NM_000528.4(MAN2B1):c.1685C>A (p.Pro562Gln)
|
|
|
|
NM_000528.4(MAN2B1):c.1703C>G (p.Ala568Gly)
|
|
|
|
NM_000528.4(MAN2B1):c.1712C>A (p.Pro571His)
|
|
|
|
NM_000528.4(MAN2B1):c.1714G>T (p.Ala572Ser)
|
rs377104016
|
|
|
NM_000528.4(MAN2B1):c.1730C>G (p.Thr577Ser)
|
rs2145250460
|
|
|
NM_000528.4(MAN2B1):c.1739_1741del (p.Val580del)
|
|
|
|
NM_000528.4(MAN2B1):c.1741G>A (p.Ala581Thr)
|
rs2145250381
|
|
|
NM_000528.4(MAN2B1):c.1747G>A (p.Val583Met)
|
|
|
|
NM_000528.4(MAN2B1):c.1748T>A (p.Val583Glu)
|
rs2145250358
|
|
|
NM_000528.4(MAN2B1):c.1753C>G (p.Arg585Gly)
|
|
|
|
NM_000528.4(MAN2B1):c.1754G>T (p.Arg585Leu)
|
rs1374305848
|
|
|
NM_000528.4(MAN2B1):c.1771C>T (p.Arg591Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.1787T>A (p.Ile596Asn)
|
rs769653813
|
|
|
NM_000528.4(MAN2B1):c.1787T>G (p.Ile596Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.1799C>A (p.Ser600Tyr)
|
|
|
|
NM_000528.4(MAN2B1):c.1830+3G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1830+3G>T
|
|
|
|
NM_000528.4(MAN2B1):c.1837C>T (p.Arg613Trp)
|
|
|
|
NM_000528.4(MAN2B1):c.1844C>T (p.Thr615Met)
|
|
|
|
NM_000528.4(MAN2B1):c.1863G>T (p.Gly621=)
|
rs2145240167
|
|
|
NM_000528.4(MAN2B1):c.1912C>T (p.Arg638Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.1913G>C (p.Arg638Pro)
|
rs146725928
|
|
|
NM_000528.4(MAN2B1):c.1917G>C (p.Gln639His)
|
|
|
|
NM_000528.4(MAN2B1):c.1919C>A (p.Thr640Asn)
|
|
|
|
NM_000528.4(MAN2B1):c.1933_1935del (p.Asn645del)
|
rs1599344435
|
|
|
NM_000528.4(MAN2B1):c.1936G>A (p.Ala646Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.1960G>T (p.Asp654Tyr)
|
rs932247520
|
|
|
NM_000528.4(MAN2B1):c.1993A>C (p.Asn665His)
|
rs2023853658
|
|
|
NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu)
|
rs967834240
|
|
|
NM_000528.4(MAN2B1):c.2006C>G (p.Pro669Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2014G>C (p.Val672Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.2021G>A (p.Arg674His)
|
|
|
|
NM_000528.4(MAN2B1):c.2036A>G (p.His679Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2046+6G>T
|
rs748175413
|
|
|
NM_000528.4(MAN2B1):c.2047A>G (p.Thr683Ala)
|
|
|
|
NM_000528.4(MAN2B1):c.2050C>A (p.Pro684Thr)
|
rs2023810273
|
|
|
NM_000528.4(MAN2B1):c.2097G>C (p.Gln699His)
|
|
|
|
NM_000528.4(MAN2B1):c.2144C>T (p.Ser715Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.2147T>A (p.Val716Glu)
|
|
|
|
NM_000528.4(MAN2B1):c.2152_2165+1dup
|
|
|
|
NM_000528.4(MAN2B1):c.2180A>G (p.Lys727Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2181G>C (p.Lys727Asn)
|
|
|
|
NM_000528.4(MAN2B1):c.2206C>A (p.Pro736Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.2224C>T (p.Arg742Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.223G>C (p.Val75Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.224T>A (p.Val75Glu)
|
rs938995975
|
|
|
NM_000528.4(MAN2B1):c.2267+5G>A
|
|
|
|
NM_000528.4(MAN2B1):c.2278C>G (p.Arg760Gly)
|
rs121434331
|
|
|
NM_000528.4(MAN2B1):c.2279G>C (p.Arg760Pro)
|
|
|
|
NM_000528.4(MAN2B1):c.227G>A (p.Gly76Asp)
|
|
|
|
NM_000528.4(MAN2B1):c.2282C>G (p.Pro761Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2285C>T (p.Thr762Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.2306A>G (p.Glu769Gly)
|
|
|
|
NM_000528.4(MAN2B1):c.2309C>T (p.Pro770Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.233T>C (p.Leu78Pro)
|
rs1387086908
|
|
|
NM_000528.4(MAN2B1):c.2342G>A (p.Arg781Gln)
|
|
|
|
NM_000528.4(MAN2B1):c.2354C>T (p.Thr785Met)
|
|
|
|
NM_000528.4(MAN2B1):c.2355+6T>C
|
|
|
|
NM_000528.4(MAN2B1):c.2390G>A (p.Arg797His)
|
|
|
|
NM_000528.4(MAN2B1):c.2390G>T (p.Arg797Leu)
|
rs750957781
|
|
|
NM_000528.4(MAN2B1):c.2479G>C (p.Glu827Gln)
|
|
|
|
NM_000528.4(MAN2B1):c.2497G>C (p.Gly833Arg)
|
rs144244650
|
|
|
NM_000528.4(MAN2B1):c.2500T>C (p.Ser834Pro)
|
|
|
|
NM_000528.4(MAN2B1):c.2506G>C (p.Ala836Pro)
|
rs140281123
|
|
|
NM_000528.4(MAN2B1):c.2516G>A (p.Arg839Gln)
|
rs2023749207
|
|
|
NM_000528.4(MAN2B1):c.2518G>C (p.Gly840Arg)
|
rs752079394
|
|
|
NM_000528.4(MAN2B1):c.2521C>T (p.Arg841Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.2524C>T (p.His842Tyr)
|
|
|
|
NM_000528.4(MAN2B1):c.2555C>T (p.Ala852Val)
|
|
|
|
NM_000528.4(MAN2B1):c.2572C>T (p.Leu858Phe)
|
|
|
|
NM_000528.4(MAN2B1):c.2579C>T (p.Ala860Val)
|
|
|
|
NM_000528.4(MAN2B1):c.2590G>A (p.Val864Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.259G>A (p.Gly87Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2605G>A (p.Val869Met)
|
|
|
|
NM_000528.4(MAN2B1):c.2618C>A (p.Pro873Gln)
|
rs752022224
|
|
|
NM_000528.4(MAN2B1):c.2618C>T (p.Pro873Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.2620G>C (p.Gly874Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2626G>A (p.Gly876Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.2640T>A (p.Asn880Lys)
|
rs763786776
|
|
|
NM_000528.4(MAN2B1):c.2657G>A (p.Arg886His)
|
|
|
|
NM_000528.4(MAN2B1):c.2665-28_2665-9del
|
|
|
|
NM_000528.4(MAN2B1):c.2674C>A (p.Leu892Met)
|
|
|
|
NM_000528.4(MAN2B1):c.2678G>A (p.Arg893His)
|
|
|
|
NM_000528.4(MAN2B1):c.2680A>G (p.Arg894Gly)
|
|
|
|
NM_000528.4(MAN2B1):c.2690C>T (p.Pro897Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.2696C>T (p.Ser899Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.2704C>G (p.Leu902Val)
|
rs1301597273
|
|
|
NM_000528.4(MAN2B1):c.2726G>A (p.Gly909Asp)
|
rs2023720009
|
|
|
NM_000528.4(MAN2B1):c.2736G>C (p.Met912Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.2740C>A (p.Leu914Met)
|
|
|
|
NM_000528.4(MAN2B1):c.2758C>G (p.Gln920Glu)
|
|
|
|
NM_000528.4(MAN2B1):c.2767G>T (p.Val923Leu)
|
rs755553683
|
|
|
NM_000528.4(MAN2B1):c.2797G>A (p.Ala933Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.281A>G (p.His94Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.282C>A (p.His94Gln)
|
|
|
|
NM_000528.4(MAN2B1):c.286G>A (p.Gly96Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.2870T>C (p.Val957Ala)
|
|
|
|
NM_000528.4(MAN2B1):c.2885G>C (p.Arg962Pro)
|
|
|
|
NM_000528.4(MAN2B1):c.2896T>G (p.Ser966Ala)
|
rs1365532315
|
|
|
NM_000528.4(MAN2B1):c.2903T>C (p.Leu968Pro)
|
|
|
|
NM_000528.4(MAN2B1):c.2912C>T (p.Thr971Ile)
|
rs2023709677
|
|
|
NM_000528.4(MAN2B1):c.2927C>G (p.Pro976Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2932C>A (p.Pro978Thr)
|
rs763382948
|
|
|
NM_000528.4(MAN2B1):c.293A>C (p.Gln98Pro)
|
|
|
|
NM_000528.4(MAN2B1):c.2992C>T (p.Arg998Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.29T>G (p.Val10Gly)
|
rs1169325876
|
|
|
NM_000528.4(MAN2B1):c.3002T>C (p.Leu1001Pro)
|
|
|
|
NM_000528.4(MAN2B1):c.3004G>A (p.Ala1002Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.3013C>T (p.Gln1005Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.340C>T (p.Arg114Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.352T>G (p.Tyr118Asp)
|
|
|
|
NM_000528.4(MAN2B1):c.376C>T (p.Arg126Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.415G>A (p.Val139Met)
|
|
|
|
NM_000528.4(MAN2B1):c.422A>T (p.Asp141Val)
|
|
|
|
NM_000528.4(MAN2B1):c.427G>A (p.Val143Met)
|
|
|
|
NM_000528.4(MAN2B1):c.430C>T (p.Arg144Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.431G>A (p.Arg144His)
|
|
|
|
NM_000528.4(MAN2B1):c.451G>A (p.Ala151Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.461G>A (p.Gly154Asp)
|
|
|
|
NM_000528.4(MAN2B1):c.496G>A (p.Gly166Ser)
|
rs749680035
|
|
|
NM_000528.4(MAN2B1):c.502A>G (p.Ile168Val)
|
|
|
|
NM_000528.4(MAN2B1):c.545C>T (p.Thr182Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.554A>G (p.Asn185Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.5G>T (p.Gly2Val)
|
|
|
|
NM_000528.4(MAN2B1):c.604C>A (p.Arg202=)
|
|
|
|
NM_000528.4(MAN2B1):c.630+5G>A
|
|
|
|
NM_000528.4(MAN2B1):c.639C>G (p.Phe213Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.640G>A (p.Asp214Asn)
|
|
|
|
NM_000528.4(MAN2B1):c.640G>C (p.Asp214His)
|
|
|
|
NM_000528.4(MAN2B1):c.658C>T (p.Arg220Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.665A>G (p.Asp222Gly)
|
|
|
|
NM_000528.4(MAN2B1):c.671A>G (p.Gln224Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.673G>C (p.Asp225His)
|
rs2024165338
|
|
|
NM_000528.4(MAN2B1):c.743C>G (p.Pro248Arg)
|
rs117843968
|
|
|
NM_000528.4(MAN2B1):c.748G>A (p.Ala250Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.749C>T (p.Ala250Val)
|
|
|
|
NM_000528.4(MAN2B1):c.752A>T (p.Asp251Val)
|
|
|
|
NM_000528.4(MAN2B1):c.776A>G (p.Asn259Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.777T>G (p.Asn259Lys)
|
|
|
|
NM_000528.4(MAN2B1):c.779G>T (p.Gly260Val)
|
|
|
|
NM_000528.4(MAN2B1):c.787C>T (p.Pro263Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.7G>A (p.Ala3Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.836T>C (p.Val279Ala)
|
|
|
|
NM_000528.4(MAN2B1):c.838G>A (p.Glu280Lys)
|
|
|
|
NM_000528.4(MAN2B1):c.847C>T (p.Arg283Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.848G>A (p.Arg283His)
|
|
|
|
NM_000528.4(MAN2B1):c.880G>A (p.Asp294Asn)
|
rs973412688
|
|
|
NM_000528.4(MAN2B1):c.894T>G (p.Asn298Lys)
|
|
|
|
NM_000528.4(MAN2B1):c.899C>T (p.Ala300Val)
|
|
|
|
NM_000528.4(MAN2B1):c.8C>T (p.Ala3Val)
|
|
|
|
NM_000528.4(MAN2B1):c.901A>G (p.Thr301Ala)
|
|
|
|
NM_000528.4(MAN2B1):c.904G>T (p.Ala302Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.905C>T (p.Ala302Val)
|
|
|
|
NM_000528.4(MAN2B1):c.910G>A (p.Gly304Ser)
|
rs2024102051
|
|
|
NM_000528.4(MAN2B1):c.913C>T (p.Arg305Trp)
|
rs202100368
|
|
|
NM_000528.4(MAN2B1):c.923G>A (p.Arg308His)
|
|
|
|
NM_000528.4(MAN2B1):c.92C>T (p.Pro31Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.940A>T (p.Met314Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.955G>C (p.Asp319His)
|
rs1251243232
|
|
|
NM_000528.4(MAN2B1):c.956A>G (p.Asp319Gly)
|
rs1222864490
|
|
|
NM_000528.4(MAN2B1):c.981G>T (p.Met327Ile)
|
rs2145272922
|
|
|
NM_000528.4(MAN2B1):c.997G>C (p.Asp333His)
|
|
|
|
NM_000642.3(AGL):c.1001C>T (p.Thr334Met)
|
rs140348042
|
|
|
NM_000642.3(AGL):c.1006A>G (p.Ile336Val)
|
rs1651355891
|
|
|
NM_000642.3(AGL):c.1010A>C (p.Gln337Pro)
|
rs1651356099
|
|
|
NM_000642.3(AGL):c.1022A>G (p.Tyr341Cys)
|
rs1651357240
|
|
|
NM_000642.3(AGL):c.1039A>G (p.Thr347Ala)
|
|
|
|
NM_000642.3(AGL):c.1049T>A (p.Met350Lys)
|
|
|
|
NM_000642.3(AGL):c.1049T>G (p.Met350Arg)
|
rs761122742
|
|
|
NM_000642.3(AGL):c.1054A>G (p.Ile352Val)
|
rs1651360894
|
|
|
NM_000642.3(AGL):c.1064C>A (p.Thr355Lys)
|
rs557516658
|
|
|
NM_000642.3(AGL):c.106G>A (p.Gly36Ser)
|
rs746977667
|
|
|
NM_000642.3(AGL):c.106G>C (p.Gly36Arg)
|
|
|
|
NM_000642.3(AGL):c.1072A>G (p.Ile358Val)
|
rs923537550
|
|
|
NM_000642.3(AGL):c.1076_1078dup (p.Pro359_His360insPro)
|
rs750705888
|
|
|
NM_000642.3(AGL):c.1082+3A>G
|
rs757095271
|
|
|
NM_000642.3(AGL):c.1083C>G (p.Asp361Glu)
|
rs928357712
|
|
|
NM_000642.3(AGL):c.1086G>T (p.Lys362Asn)
|
rs1360892895
|
|
|
NM_000642.3(AGL):c.1096G>A (p.Ala366Thr)
|
|
|
|
NM_000642.3(AGL):c.1119G>T (p.Trp373Cys)
|
|
|
|
NM_000642.3(AGL):c.112A>T (p.Thr38Ser)
|
|
|
|
NM_000642.3(AGL):c.1138G>A (p.Glu380Lys)
|
|
|
|
NM_000642.3(AGL):c.1139A>G (p.Glu380Gly)
|
rs1045745115
|
|
|
NM_000642.3(AGL):c.1166T>A (p.Ile389Asn)
|
rs2101127992
|
|
|
NM_000642.3(AGL):c.1185G>A (p.Gln395=)
|
|
|
|
NM_000642.3(AGL):c.1186-3C>G
|
rs1651432625
|
|
|
NM_000642.3(AGL):c.1211T>C (p.Val404Ala)
|
|
|
|
NM_000642.3(AGL):c.1220A>G (p.Glu407Gly)
|
|
|
|
NM_000642.3(AGL):c.1223G>A (p.Arg408Gln)
|
|
|
|
NM_000642.3(AGL):c.122G>A (p.Gly41Glu)
|
|
|
|
NM_000642.3(AGL):c.1234C>T (p.His412Tyr)
|
rs1651438326
|
|
|
NM_000642.3(AGL):c.1237G>A (p.Gly413Ser)
|
rs767865657
|
|
|
NM_000642.3(AGL):c.1238G>A (p.Gly413Asp)
|
|
|
|
NM_000642.3(AGL):c.1241C>A (p.Pro414Gln)
|
rs758882822
|
|
|
NM_000642.3(AGL):c.1252C>A (p.Pro418Thr)
|
rs2101128717
|
|
|
NM_000642.3(AGL):c.1267C>T (p.His423Tyr)
|
|
|
|
NM_000642.3(AGL):c.1276G>A (p.Val426Ile)
|
|
|
|
NM_000642.3(AGL):c.1284-3T>C
|
|
|
|
NM_000642.3(AGL):c.1308G>C (p.Glu436Asp)
|
rs2101132003
|
|
|
NM_000642.3(AGL):c.1309A>G (p.Ile437Val)
|
|
|
|
NM_000642.3(AGL):c.1311A>G (p.Ile437Met)
|
|
|
|
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr)
|
rs149771710
|
|
|
NM_000642.3(AGL):c.1322T>C (p.Met441Thr)
|
|
|
|
NM_000642.3(AGL):c.1338T>G (p.Ile446Met)
|
|
|
|
NM_000642.3(AGL):c.1351A>G (p.Lys451Glu)
|
|
|
|
NM_000642.3(AGL):c.136G>A (p.Val46Met)
|
rs762935611
|
|
|
NM_000642.3(AGL):c.136G>C (p.Val46Leu)
|
|
|
|
NM_000642.3(AGL):c.136G>T (p.Val46Leu)
|
rs762935611
|
|
|
NM_000642.3(AGL):c.1379G>A (p.Gly460Glu)
|
|
|
|
NM_000642.3(AGL):c.1381T>C (p.Trp461Arg)
|
rs1651550127
|
|
|
NM_000642.3(AGL):c.1395T>G (p.Asp465Glu)
|
|
|
|
NM_000642.3(AGL):c.1405C>G (p.Arg469Gly)
|
rs766536350
|
|
|
NM_000642.3(AGL):c.1406G>A (p.Arg469Gln)
|
|
|
|
NM_000642.3(AGL):c.1421C>G (p.Pro474Arg)
|
rs146493448
|
|
|
NM_000642.3(AGL):c.1421C>T (p.Pro474Leu)
|
rs146493448
|
|
|
NM_000642.3(AGL):c.1424G>A (p.Gly475Asp)
|
|
|
|
NM_000642.3(AGL):c.1431A>C (p.Glu477Asp)
|
|
|
|
NM_000642.3(AGL):c.1432G>C (p.Val478Leu)
|
|
|
|
NM_000642.3(AGL):c.1450C>A (p.Leu484Ile)
|
|
|
|
NM_000642.3(AGL):c.1457G>A (p.Cys486Tyr)
|
rs1651660863
|
|
|
NM_000642.3(AGL):c.1459T>C (p.Trp487Arg)
|
rs1557760604
|
|
|
NM_000642.3(AGL):c.1460G>T (p.Trp487Leu)
|
rs2101136214
|
|
|
NM_000642.3(AGL):c.1462G>A (p.Gly488Arg)
|
|
|
|
NM_000642.3(AGL):c.1463G>C (p.Gly488Ala)
|
|
|
|
NM_000642.3(AGL):c.1467C>G (p.Asp489Glu)
|
|
|
|
NM_000642.3(AGL):c.1489A>G (p.Asn497Asp)
|
|
|
|
NM_000642.3(AGL):c.1526T>G (p.Met509Arg)
|
rs1367177057
|
|
|
NM_000642.3(AGL):c.1543A>C (p.Ile515Leu)
|
|
|
|
NM_000642.3(AGL):c.1543A>G (p.Ile515Val)
|
|
|
|
NM_000642.3(AGL):c.1549G>C (p.Ala517Pro)
|
|
|
|
NM_000642.3(AGL):c.1555T>G (p.Tyr519Asp)
|
rs1651672111
|
|
|
NM_000642.3(AGL):c.1582T>A (p.Cys528Ser)
|
rs1570438541
|
|
|
NM_000642.3(AGL):c.1603G>A (p.Val535Ile)
|
|
|
|
NM_000642.3(AGL):c.160G>A (p.Gly54Arg)
|
|
|
|
NM_000642.3(AGL):c.1611+15_1611+17del
|
|
|
|
NM_000642.3(AGL):c.1611+4C>T
|
|
|
|
NM_000642.3(AGL):c.1612-3C>T
|
rs1286941369
|
|
|
NM_000642.3(AGL):c.1612-8T>A
|
rs1557762522
|
|
|
NM_000642.3(AGL):c.1615A>G (p.Met539Val)
|
rs764106633
|
|
|
NM_000642.3(AGL):c.1615A>T (p.Met539Leu)
|
rs764106633
|
|
|
NM_000642.3(AGL):c.1627G>A (p.Ala543Thr)
|
rs749550642
|
|
|
NM_000642.3(AGL):c.1643C>G (p.Pro548Arg)
|
|
|
|
NM_000642.3(AGL):c.1661C>T (p.Ala554Val)
|
rs1651873917
|
|
|
NM_000642.3(AGL):c.1669T>C (p.Phe557Leu)
|
|
|
|
NM_000642.3(AGL):c.1671C>A (p.Phe557Leu)
|
rs1651875081
|
|
|
NM_000642.3(AGL):c.1690G>A (p.Asp564Asn)
|
|
|
|
NM_000642.3(AGL):c.1690G>T (p.Asp564Tyr)
|
rs1393453150
|
|
|
NM_000642.3(AGL):c.1693A>G (p.Asn565Asp)
|
rs2101145600
|
|
|
NM_000642.3(AGL):c.1697T>A (p.Val566Asp)
|
|
|
|
NM_000642.3(AGL):c.169T>C (p.Phe57Leu)
|
rs756476562
|
|
|
NM_000642.3(AGL):c.1709G>T (p.Arg570Ile)
|
|
|
|
NM_000642.3(AGL):c.1710A>T (p.Arg570Ser)
|
|
|
|
NM_000642.3(AGL):c.1715G>A (p.Gly572Asp)
|
rs1651880309
|
|
|
NM_000642.3(AGL):c.1715G>T (p.Gly572Val)
|
rs1651880309
|
|
|
NM_000642.3(AGL):c.1718_1720dup (p.Ile573_Ser574insIle)
|
rs1553186221
|
|
|
NM_000642.3(AGL):c.1729A>T (p.Ile577Leu)
|
|
|
|
NM_000642.3(AGL):c.1735+5G>A
|
|
|
|
NM_000642.3(AGL):c.1735+5dup
|
rs766616589
|
|
|
NM_000642.3(AGL):c.1768G>A (p.Gly590Ser)
|
rs1651935929
|
|
|
NM_000642.3(AGL):c.1777G>C (p.Val593Leu)
|
rs1312675872
|
|
|
NM_000642.3(AGL):c.1785A>G (p.Arg595=)
|
|
|
|
NM_000642.3(AGL):c.1790G>A (p.Gly597Glu)
|
|
|
|
NM_000642.3(AGL):c.1792G>C (p.Gly598Arg)
|
|
|
|
NM_000642.3(AGL):c.1822T>C (p.Cys608Arg)
|
|
|
|
NM_000642.3(AGL):c.1822T>G (p.Cys608Gly)
|
|
|
|
NM_000642.3(AGL):c.1823G>A (p.Cys608Tyr)
|
rs1317587334
|
|
|
NM_000642.3(AGL):c.1832C>A (p.Pro611His)
|
|
|
|
NM_000642.3(AGL):c.1863T>G (p.Phe621Leu)
|
|
|
|
NM_000642.3(AGL):c.1864A>G (p.Met622Val)
|
rs145517369
|
|
|
NM_000642.3(AGL):c.186C>G (p.Phe62Leu)
|
rs146234738
|
|
|
NM_000642.3(AGL):c.1882A>C (p.Asn628His)
|
|
|
|
NM_000642.3(AGL):c.1883A>G (p.Asn628Ser)
|
rs1651950655
|
|
|
NM_000642.3(AGL):c.1887G>C (p.Glu629Asp)
|
|
|
|
NM_000642.3(AGL):c.1892C>G (p.Pro631Arg)
|
rs1553186376
|
|
|
NM_000642.3(AGL):c.1898T>C (p.Val633Ala)
|
|
|
|
NM_000642.3(AGL):c.1899+4A>C
|
|
|
|
NM_000642.3(AGL):c.1899G>T (p.Val633=)
|
rs2101149424
|
|
|
NM_000642.3(AGL):c.1900-13T>A
|
rs533280246
|
|
|
NM_000642.3(AGL):c.1912T>C (p.Tyr638His)
|
|
|
|
NM_000642.3(AGL):c.1918G>T (p.Ala640Ser)
|
|
|
|
NM_000642.3(AGL):c.1919C>T (p.Ala640Val)
|
|
|
|
NM_000642.3(AGL):c.193C>G (p.Leu65Val)
|
rs772086117
|
|
|
NM_000642.3(AGL):c.1945A>G (p.Met649Val)
|
rs1277302034
|
|
|
NM_000642.3(AGL):c.1970C>T (p.Thr657Ile)
|
rs1245600149
|
|
|
NM_000642.3(AGL):c.1972A>G (p.Arg658Gly)
|
rs1173312923
|
|
|
NM_000642.3(AGL):c.1979A>G (p.Tyr660Cys)
|
|
|
|
NM_000642.3(AGL):c.1994C>T (p.Pro665Leu)
|
|
|
|
NM_000642.3(AGL):c.2001+8_2001+9delinsCG
|
rs1064794512
|
|
|
NM_000642.3(AGL):c.2022A>C (p.Glu674Asp)
|
|
|
|
NM_000642.3(AGL):c.2033C>G (p.Thr678Ser)
|
rs1198908336
|
|
|
NM_000642.3(AGL):c.2033C>T (p.Thr678Ile)
|
|
|
|
NM_000642.3(AGL):c.2059T>G (p.Ser687Ala)
|
|
|
|
NM_000642.3(AGL):c.206A>G (p.Asn69Ser)
|
|
|
|
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg)
|
rs778021848
|
|
|
NM_000642.3(AGL):c.2089G>A (p.Gly697Ser)
|
rs771211030
|
|
|
NM_000642.3(AGL):c.2089G>T (p.Gly697Cys)
|
rs771211030
|
|
|
NM_000642.3(AGL):c.2090G>A (p.Gly697Asp)
|
|
|
|
NM_000642.3(AGL):c.2091C>T (p.Gly697=)
|
rs759619501
|
|
|
NM_000642.3(AGL):c.2092A>G (p.Ile698Val)
|
rs1257346542
|
|
|
NM_000642.3(AGL):c.2107T>C (p.Cys703Arg)
|
rs2100759729
|
|
|
NM_000642.3(AGL):c.2116A>G (p.Ser706Gly)
|
|
|
|
NM_000642.3(AGL):c.2135T>C (p.Leu712Pro)
|
rs2100759804
|
|
|
NM_000642.3(AGL):c.2137G>A (p.Gly713Arg)
|
rs763281839
|
|
|
NM_000642.3(AGL):c.2149T>C (p.Phe717Leu)
|
|
|
|
NM_000642.3(AGL):c.214G>C (p.Glu72Gln)
|
|
|
|
NM_000642.3(AGL):c.2157+5G>T
|
|
|
|
NM_000642.3(AGL):c.2158-3C>A
|
|
|
|
NM_000642.3(AGL):c.2172A>G (p.Gln724=)
|
rs1553186596
|
|
|
NM_000642.3(AGL):c.2173G>A (p.Val725Ile)
|
rs1269529478
|
|
|
NM_000642.3(AGL):c.2174T>C (p.Val725Ala)
|
|
|
|
NM_000642.3(AGL):c.2181_2183del (p.Glu727del)
|
rs1652029472
|
|
|
NM_000642.3(AGL):c.2194G>A (p.Val732Ile)
|
|
|
|
NM_000642.3(AGL):c.2204A>C (p.His735Pro)
|
rs749756974
|
|
|
NM_000642.3(AGL):c.2215A>G (p.Ile739Val)
|
rs1652034992
|
|
|
NM_000642.3(AGL):c.2219A>C (p.His740Pro)
|
|
|
|
NM_000642.3(AGL):c.2228T>C (p.Val743Ala)
|
|
|
|
NM_000642.3(AGL):c.2236G>A (p.Val746Ile)
|
rs1652038002
|
|
|
NM_000642.3(AGL):c.223G>A (p.Asp75Asn)
|
rs1650046049
|
|
|
NM_000642.3(AGL):c.2242A>G (p.Arg748Gly)
|
rs1652038882
|
|
|
NM_000642.3(AGL):c.2243G>T (p.Arg748Ile)
|
|
|
|
NM_000642.3(AGL):c.2245A>T (p.Thr749Ser)
|
rs891610687
|
|
|
NM_000642.3(AGL):c.2264A>G (p.Lys755Arg)
|
rs1419239485
|
|
|
NM_000642.3(AGL):c.226G>A (p.Asp76Asn)
|
|
|
|
NM_000642.3(AGL):c.2275T>C (p.Tyr759His)
|
rs1652041472
|
|
|
NM_000642.3(AGL):c.2279G>A (p.Ser760Asn)
|
rs1557764702
|
|
|
NM_000642.3(AGL):c.2283G>T (p.Lys761Asn)
|
|
|
|
NM_000642.3(AGL):c.2291C>T (p.Pro764Leu)
|
rs2100760670
|
|
|
NM_000642.3(AGL):c.2303T>A (p.Ile768Asn)
|
rs1652043382
|
|
|
NM_000642.3(AGL):c.2308+6G>A
|
rs2100760748
|
|
|
NM_000642.3(AGL):c.2326G>T (p.Val776Phe)
|
|
|
|
NM_000642.3(AGL):c.2332G>A (p.Glu778Lys)
|
rs1173769424
|
|
|
NM_000642.3(AGL):c.2339G>T (p.Arg780Ile)
|
|
|
|
NM_000642.3(AGL):c.2357C>A (p.Thr786Lys)
|
|
|
|
NM_000642.3(AGL):c.235A>G (p.Lys79Glu)
|
rs1650047298
|
|
|
NM_000642.3(AGL):c.2365T>C (p.Tyr789His)
|
rs1652264808
|
|
|
NM_000642.3(AGL):c.2372A>G (p.Lys791Arg)
|
rs1557766791
|
|
|
NM_000642.3(AGL):c.2384C>T (p.Ser795Leu)
|
|
|
|
NM_000642.3(AGL):c.2404A>G (p.Ile802Val)
|
|
|
|
NM_000642.3(AGL):c.2407A>G (p.Thr803Ala)
|
|
|
|
NM_000642.3(AGL):c.2434-5T>C
|
|
|
|
NM_000642.3(AGL):c.2446A>G (p.Lys816Glu)
|
rs1652283067
|
|
|
NM_000642.3(AGL):c.2465G>A (p.Gly822Glu)
|
rs752820851
|
|
|
NM_000642.3(AGL):c.2467G>A (p.Val823Ile)
|
|
|
|
NM_000642.3(AGL):c.2470G>A (p.Ala824Thr)
|
rs1173687543
|
|
|
NM_000642.3(AGL):c.2473A>G (p.Thr825Ala)
|
|
|
|
NM_000642.3(AGL):c.2491T>C (p.Tyr831His)
|
rs2100768935
|
|
|
NM_000642.3(AGL):c.2492A>G (p.Tyr831Cys)
|
|
|
|
NM_000642.3(AGL):c.2498A>C (p.Gln833Pro)
|
|
|
|
NM_000642.3(AGL):c.2498A>G (p.Gln833Arg)
|
|
|
|
NM_000642.3(AGL):c.2505A>G (p.Ile835Met)
|
rs1652287991
|
|
|
NM_000642.3(AGL):c.2537T>C (p.Ile846Thr)
|
rs1570451577
|
|
|
NM_000642.3(AGL):c.2560C>A (p.Pro854Thr)
|
rs1652304925
|
|
|
NM_000642.3(AGL):c.2566G>A (p.Ala856Thr)
|
rs2100769660
|
|
|
NM_000642.3(AGL):c.2570A>C (p.Gln857Pro)
|
|
|
|
NM_000642.3(AGL):c.2575G>T (p.Ala859Ser)
|
|
|
|
NM_000642.3(AGL):c.2578G>A (p.Val860Ile)
|
rs1652307305
|
|
|
NM_000642.3(AGL):c.2585T>A (p.Ile862Asn)
|
|
|
|
NM_000642.3(AGL):c.2600T>C (p.Leu867Pro)
|
|
|
|
NM_000642.3(AGL):c.2607A>T (p.Gln869His)
|
|
|
|
NM_000642.3(AGL):c.2612G>A (p.Ser871Asn)
|
|
|
|
NM_000642.3(AGL):c.2614C>T (p.Pro872Ser)
|
|
|
|
NM_000642.3(AGL):c.2623A>C (p.Lys875Gln)
|
|
|
|
NM_000642.3(AGL):c.2623A>G (p.Lys875Glu)
|
rs750932668
|
|
|
NM_000642.3(AGL):c.2629G>C (p.Gly877Arg)
|
|
|
|
NM_000642.3(AGL):c.2638G>C (p.Ala880Pro)
|
|
|
|
NM_000642.3(AGL):c.2659A>G (p.Ile887Val)
|
|
|
|
NM_000642.3(AGL):c.266G>A (p.Gly89Asp)
|
|
|
|
NM_000642.3(AGL):c.2671C>T (p.Pro891Ser)
|
rs777738895
|
|
|
NM_000642.3(AGL):c.2677G>C (p.Ala893Pro)
|
rs1652316880
|
|
|
NM_000642.3(AGL):c.2678C>T (p.Ala893Val)
|
rs1652317076
|
|
|
NM_000642.3(AGL):c.2681+4dup
|
rs754242194
|
|
|
NM_000642.3(AGL):c.2699C>G (p.Thr900Ser)
|
|
|
|
NM_000642.3(AGL):c.2707G>A (p.Glu903Lys)
|
rs2100778885
|
|
|
NM_000642.3(AGL):c.2708A>C (p.Glu903Ala)
|
rs2100778892
|
|
|
NM_000642.3(AGL):c.2711_2717delinsCAAAGGATCTGAT (p.Leu904_Gln906delinsProLysAspLeuMet)
|
rs1288036533
|
|
|
NM_000642.3(AGL):c.2718G>C (p.Gln906His)
|
|
|
|
NM_000642.3(AGL):c.2729G>T (p.Arg910Leu)
|
rs369044372
|
|
|
NM_000642.3(AGL):c.2752G>A (p.Asp918Asn)
|
|
|
|
NM_000642.3(AGL):c.2768A>G (p.Tyr923Cys)
|
rs2100779074
|
|
|
NM_000642.3(AGL):c.2802_2803delinsCA (p.Gly935Ser)
|
rs2100779264
|
|
|
NM_000642.3(AGL):c.2806C>T (p.Leu936Phe)
|
rs1652591450
|
|
|
NM_000642.3(AGL):c.2812G>A (p.Gly938Ser)
|
rs922506679
|
|
|
NM_000642.3(AGL):c.2818A>G (p.Met940Val)
|
rs754850076
|
|
|
NM_000642.3(AGL):c.2819T>C (p.Met940Thr)
|
rs2100788224
|
|
|
NM_000642.3(AGL):c.2824G>C (p.Val942Leu)
|
|
|
|
NM_000642.3(AGL):c.2840G>A (p.Arg947Lys)
|
|
|
|
NM_000642.3(AGL):c.2842C>T (p.Pro948Ser)
|
|
|
|
NM_000642.3(AGL):c.2849A>G (p.Asn950Ser)
|
|
|
|
NM_000642.3(AGL):c.2851G>A (p.Asp951Asn)
|
|
|
|
NM_000642.3(AGL):c.2857G>A (p.Gly953Arg)
|
rs1010866326
|
|
|
NM_000642.3(AGL):c.2884T>A (p.Ser962Thr)
|
rs1000217312
|
|
|
NM_000642.3(AGL):c.2896A>T (p.Met966Leu)
|
rs772843306
|
|
|
NM_000642.3(AGL):c.2908G>T (p.Val970Phe)
|
|
|
|
NM_000642.3(AGL):c.2909T>C (p.Val970Ala)
|
rs1570463733
|
|
|
NM_000642.3(AGL):c.2918G>A (p.Arg973Gln)
|
rs1012435007
|
|
|
NM_000642.3(AGL):c.2920C>T (p.Leu974Phe)
|
|
|
|
NM_000642.3(AGL):c.292G>A (p.Gly98Arg)
|
rs1557746870
|
|
|
NM_000642.3(AGL):c.292G>C (p.Gly98Arg)
|
|
|
|
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu)
|
rs147977213
|
|
|
NM_000642.3(AGL):c.2936G>A (p.Gly979Glu)
|
rs1170310851
|
|
|
NM_000642.3(AGL):c.2949+2dup
|
rs1553188589
|
|
|
NM_000642.3(AGL):c.2949+6T>C
|
rs1557772463
|
|
|
NM_000642.3(AGL):c.2953G>A (p.Gly985Ser)
|
|
|
|
NM_000642.3(AGL):c.2981A>C (p.Tyr994Ser)
|
rs1652908148
|
|
|
NM_000642.3(AGL):c.2990A>G (p.Gln997Arg)
|
rs1336041021
|
|
|
NM_000642.3(AGL):c.2998C>T (p.Arg1000Cys)
|
|
|
|
NM_000642.3(AGL):c.2999G>A (p.Arg1000His)
|
|
|
|
NM_000642.3(AGL):c.3001T>A (p.Tyr1001Asn)
|
|
|
|
NM_000642.3(AGL):c.3010C>G (p.Pro1004Ala)
|
rs1652911105
|
|
|
NM_000642.3(AGL):c.3019T>C (p.Phe1007Leu)
|
|
|
|
NM_000642.3(AGL):c.3020T>C (p.Phe1007Ser)
|
rs1652912052
|
|
|
NM_000642.3(AGL):c.3030A>G (p.Ile1010Met)
|
|
|
|
NM_000642.3(AGL):c.3040G>A (p.Ala1014Thr)
|
rs1652913374
|
|
|
NM_000642.3(AGL):c.3046A>T (p.Thr1016Ser)
|
rs1652914200
|
|
|
NM_000642.3(AGL):c.3049A>G (p.Thr1017Ala)
|
rs534210500
|
|
|
NM_000642.3(AGL):c.3049A>T (p.Thr1017Ser)
|
|
|
|
NM_000642.3(AGL):c.306TGG[1] (p.Gly105del)
|
rs775865279
|
|
|
NM_000642.3(AGL):c.3071A>G (p.Lys1024Arg)
|
|
|
|
NM_000642.3(AGL):c.3077T>C (p.Met1026Thr)
|
rs1570464667
|
|
|
NM_000642.3(AGL):c.3082A>C (p.Ser1028Arg)
|
|
|
|
NM_000642.3(AGL):c.3085T>C (p.Phe1029Leu)
|
|
|
|
NM_000642.3(AGL):c.3098G>A (p.Gly1033Asp)
|
rs1255302658
|
|
|
NM_000642.3(AGL):c.3098G>T (p.Gly1033Val)
|
rs1255302658
|
|
|
NM_000642.3(AGL):c.3108T>A (p.Phe1036Leu)
|
|
|
|
NM_000642.3(AGL):c.310G>A (p.Gly104Arg)
|
rs745610775
|
|
|
NM_000642.3(AGL):c.3124T>G (p.Leu1042Val)
|
rs764821272
|
|
|
NM_000642.3(AGL):c.3127G>C (p.Gly1043Arg)
|
|
|
|
NM_000642.3(AGL):c.3131C>T (p.Ser1044Leu)
|
rs1166582494
|
|
|
NM_000642.3(AGL):c.3160C>T (p.Pro1054Ser)
|
rs1269370932
|
|
|
NM_000642.3(AGL):c.3166C>G (p.Leu1056Val)
|
rs774124715
|
|
|
NM_000642.3(AGL):c.3173T>G (p.Ile1058Ser)
|
|
|
|
NM_000642.3(AGL):c.3175C>T (p.Leu1059Phe)
|
rs868699590
|
|
|
NM_000642.3(AGL):c.3184G>T (p.Ala1062Ser)
|
rs1475224037
|
|
|
NM_000642.3(AGL):c.3193G>A (p.Asp1065Asn)
|
|
|
|
NM_000642.3(AGL):c.3195T>A (p.Asp1065Glu)
|
rs569268763
|
|
|
NM_000642.3(AGL):c.3199C>G (p.Pro1067Ala)
|
rs3753494
|
|
|
NM_000642.3(AGL):c.3207G>C (p.Arg1069Ser)
|
rs1346677449
|
|
|
NM_000642.3(AGL):c.3213T>A (p.Asn1071Lys)
|
rs765357864
|
|
|
NM_000642.3(AGL):c.3215A>T (p.Glu1072Val)
|
rs2100792880
|
|
|
NM_000642.3(AGL):c.3226G>A (p.Glu1076Lys)
|
|
|
|
NM_000642.3(AGL):c.323T>C (p.Val108Ala)
|
|
|
|
NM_000642.3(AGL):c.3242G>C (p.Cys1081Ser)
|
rs147375385
|
|
|
NM_000642.3(AGL):c.3259+3A>C
|
rs748859491
|
|
|
NM_000642.3(AGL):c.3260-3T>C
|
rs1021997139
|
|
|
NM_000642.3(AGL):c.326T>C (p.Val109Ala)
|
|
|
|
NM_000642.3(AGL):c.3283A>C (p.Ile1095Leu)
|
rs762157090
|
|
|
NM_000642.3(AGL):c.3283A>G (p.Ile1095Val)
|
rs762157090
|
|
|
NM_000642.3(AGL):c.3310T>G (p.Phe1104Val)
|
rs1653318386
|
|
|
NM_000642.3(AGL):c.3311T>G (p.Phe1104Cys)
|
rs1653318633
|
|
|
NM_000642.3(AGL):c.3314T>C (p.Ile1105Thr)
|
|
|
|
NM_000642.3(AGL):c.3319C>T (p.Leu1107Phe)
|
|
|
|
NM_000642.3(AGL):c.3347G>A (p.Arg1116His)
|
rs746779518
|
|
|
NM_000642.3(AGL):c.3347G>T (p.Arg1116Leu)
|
rs746779518
|
|
|
NM_000642.3(AGL):c.3349T>C (p.Tyr1117His)
|
|
|
|
NM_000642.3(AGL):c.3359C>G (p.Ala1120Gly)
|
rs1233797859
|
|
|
NM_000642.3(AGL):c.3361A>G (p.Arg1121Gly)
|
|
|
|
NM_000642.3(AGL):c.3362+5G>T
|
rs2100804143
|
|
|
NM_000642.3(AGL):c.3363G>A (p.Arg1121=)
|
|
|
|
NM_000642.3(AGL):c.3367A>G (p.Ile1123Val)
|
|
|
|
NM_000642.3(AGL):c.3371T>C (p.Ile1124Thr)
|
rs2100817894
|
|
|
NM_000642.3(AGL):c.3383C>T (p.Ala1128Val)
|
rs1225426505
|
|
|
NM_000642.3(AGL):c.3386G>A (p.Gly1129Asp)
|
rs779241109
|
|
|
NM_000642.3(AGL):c.3395G>A (p.Arg1132Lys)
|
rs1216059782
|
|
|
NM_000642.3(AGL):c.341G>C (p.Arg114Pro)
|
rs150146360
|
|
|
NM_000642.3(AGL):c.3422G>A (p.Gly1141Asp)
|
|
|
|
NM_000642.3(AGL):c.3428G>T (p.Gly1143Val)
|
|
|
|
NM_000642.3(AGL):c.3431T>C (p.Ile1144Thr)
|
|
|
|
NM_000642.3(AGL):c.3436G>A (p.Ala1146Thr)
|
|
|
|
NM_000642.3(AGL):c.3446A>G (p.Asn1149Ser)
|
|
|
|
NM_000642.3(AGL):c.3477G>C (p.Gln1159His)
|
rs1570482572
|
|
|
NM_000642.3(AGL):c.3479G>A (p.Cys1160Tyr)
|
|
|
|
NM_000642.3(AGL):c.3486G>C (p.Gln1162His)
|
|
|
|
NM_000642.3(AGL):c.3488A>G (p.Asp1163Gly)
|
rs2100818432
|
|
|
NM_000642.3(AGL):c.3493T>A (p.Cys1165Ser)
|
rs1570482637
|
|
|
NM_000642.3(AGL):c.3508A>T (p.Asn1170Tyr)
|
rs1236655933
|
|
|
NM_000642.3(AGL):c.3531C>G (p.Cys1177Trp)
|
rs1653766997
|
|
|
NM_000642.3(AGL):c.3535G>T (p.Val1179Phe)
|
rs1553190315
|
|
|
NM_000642.3(AGL):c.3546G>A (p.Met1182Ile)
|
rs758562610
|
|
|
NM_000642.3(AGL):c.3550C>A (p.Pro1184Thr)
|
|
|
|
NM_000642.3(AGL):c.3557A>G (p.Asp1186Gly)
|
|
|
|
NM_000642.3(AGL):c.3560A>G (p.Asp1187Gly)
|
rs2100818758
|
|
|
NM_000642.3(AGL):c.3565G>T (p.Ala1189Ser)
|
|
|
|
NM_000642.3(AGL):c.3577G>A (p.Ala1193Thr)
|
rs2100818799
|
|
|
NM_000642.3(AGL):c.3578C>T (p.Ala1193Val)
|
|
|
|
NM_000642.3(AGL):c.3581G>A (p.Gly1194Asp)
|
rs370685884
|
|
|
NM_000642.3(AGL):c.3584C>T (p.Thr1195Ile)
|
rs148930543
|
|
|
NM_000642.3(AGL):c.3588+6G>A
|
rs878931687
|
|
|
NM_000642.3(AGL):c.3593A>G (p.Gln1198Arg)
|
|
|
|
NM_000642.3(AGL):c.359A>G (p.His120Arg)
|
|
|
|
NM_000642.3(AGL):c.3610A>G (p.Ile1204Val)
|
|
|
|
NM_000642.3(AGL):c.3613C>G (p.Gln1205Glu)
|
rs775498547
|
|
|
NM_000642.3(AGL):c.3622A>G (p.Met1208Val)
|
|
|
|
NM_000642.3(AGL):c.3626A>G (p.Gln1209Arg)
|
rs1244477744
|
|
|
NM_000642.3(AGL):c.3634A>G (p.Met1212Val)
|
rs1653939546
|
|
|
NM_000642.3(AGL):c.3634A>T (p.Met1212Leu)
|
rs1653939546
|
|
|
NM_000642.3(AGL):c.3639G>C (p.Gln1213His)
|
rs1213904866
|
|
|
NM_000642.3(AGL):c.3640G>A (p.Gly1214Ser)
|
|
|
|
NM_000642.3(AGL):c.3652C>G (p.Arg1218Gly)
|
rs771853367
|
|
|
NM_000642.3(AGL):c.365T>C (p.Leu122Pro)
|
rs1557747438
|
|
|
NM_000642.3(AGL):c.3670C>T (p.Pro1224Ser)
|
rs1417784168
|
|
|
NM_000642.3(AGL):c.3677T>A (p.Ile1226Lys)
|
|
|
|
NM_000642.3(AGL):c.3677T>G (p.Ile1226Arg)
|
rs749118487
|
|
|
NM_000642.3(AGL):c.3679G>C (p.Asp1227His)
|
|
|
|
NM_000642.3(AGL):c.3688A>G (p.Met1230Val)
|
|
|
|
NM_000642.3(AGL):c.3689T>A (p.Met1230Lys)
|
|
|
|
NM_000642.3(AGL):c.3700+6G>A
|
rs1653947633
|
|
|
NM_000642.3(AGL):c.3706A>C (p.Asn1236His)
|
|
|
|
NM_000642.3(AGL):c.3727G>A (p.Glu1243Lys)
|
|
|
|
NM_000642.3(AGL):c.372G>A (p.Leu124=)
|
rs1650116520
|
|
|
NM_000642.3(AGL):c.3730G>A (p.Glu1244Lys)
|
|
|
|
NM_000642.3(AGL):c.3754A>G (p.Asn1252Asp)
|
|
|
|
NM_000642.3(AGL):c.3755A>G (p.Asn1252Ser)
|
rs1654691063
|
|
|
NM_000642.3(AGL):c.3767G>T (p.Cys1256Phe)
|
|
|
|
NM_000642.3(AGL):c.3778A>T (p.Met1260Leu)
|
rs2100849258
|
|
|
NM_000642.3(AGL):c.3781G>A (p.Asp1261Asn)
|
rs2100849278
|
|
|
NM_000642.3(AGL):c.3789G>T (p.Met1263Ile)
|
rs1654694671
|
|
|
NM_000642.3(AGL):c.3790G>A (p.Gly1264Arg)
|
|
|
|
NM_000642.3(AGL):c.3796A>G (p.Ser1266Gly)
|
|
|
|
NM_000642.3(AGL):c.3802A>G (p.Arg1268Gly)
|
rs1654696617
|
|
|
NM_000642.3(AGL):c.3805G>A (p.Ala1269Thr)
|
|
|
|
NM_000642.3(AGL):c.3818G>T (p.Gly1273Val)
|
rs765807203
|
|
|
NM_000642.3(AGL):c.3833C>T (p.Pro1278Leu)
|
|
|
|
NM_000642.3(AGL):c.3837-19A>G
|
|
|
|
NM_000642.3(AGL):c.3837A>G (p.Arg1279=)
|
|
|
|
NM_000642.3(AGL):c.3838G>T (p.Asp1280Tyr)
|
|
|
|
NM_000642.3(AGL):c.385C>G (p.Leu129Val)
|
rs749109793
|
|
|
NM_000642.3(AGL):c.385C>T (p.Leu129Phe)
|
rs749109793
|
|
|
NM_000642.3(AGL):c.3863G>C (p.Gly1288Ala)
|
rs1333279828
|
|
|
NM_000642.3(AGL):c.3869G>A (p.Ser1290Asn)
|
|
|
|
NM_000642.3(AGL):c.3883C>G (p.Arg1295Gly)
|
rs1238498134
|
|
|
NM_000642.3(AGL):c.3884G>T (p.Arg1295Leu)
|
rs140481863
|
|
|
NM_000642.3(AGL):c.3897A>C (p.Glu1299Asp)
|
rs2100854534
|
|
|
NM_000642.3(AGL):c.3912T>A (p.Asn1304Lys)
|
rs1570508523
|
|
|
NM_000642.3(AGL):c.3925_3927del (p.His1309del)
|
|
|
|
NM_000642.3(AGL):c.3927T>A (p.His1309Gln)
|
rs1200885928
|
|
|
NM_000642.3(AGL):c.3938T>G (p.Val1313Gly)
|
rs1557789904
|
|
|
NM_000642.3(AGL):c.3948T>C (p.His1316=)
|
|
|
|
NM_000642.3(AGL):c.3955G>C (p.Ala1319Pro)
|
|
|
|
NM_000642.3(AGL):c.3956C>G (p.Ala1319Gly)
|
rs756393699
|
|
|
NM_000642.3(AGL):c.3958A>G (p.Ile1320Val)
|
|
|
|
NM_000642.3(AGL):c.3963G>C (p.Lys1321Asn)
|
rs1198045021
|
|
|
NM_000642.3(AGL):c.3964G>C (p.Val1322Leu)
|
|
|
|
NM_000642.3(AGL):c.3990A>C (p.Lys1330Asn)
|
rs1654904369
|
|
|
NM_000642.3(AGL):c.3994C>A (p.Gln1332Lys)
|
|
|
|
NM_000642.3(AGL):c.3995A>C (p.Gln1332Pro)
|
|
|
|
NM_000642.3(AGL):c.4001A>C (p.Asn1334Thr)
|
|
|
|
NM_000642.3(AGL):c.401C>G (p.Ala134Gly)
|
|
|
|
NM_000642.3(AGL):c.4040A>G (p.Asp1347Gly)
|
rs757161555
|
|
|
NM_000642.3(AGL):c.405G>C (p.Lys135Asn)
|
|
|
|
NM_000642.3(AGL):c.4064T>A (p.Leu1355Gln)
|
rs2100859879
|
|
|
NM_000642.3(AGL):c.4075C>T (p.Arg1359Cys)
|
|
|
|
NM_000642.3(AGL):c.4081A>C (p.Ile1361Leu)
|
rs1397039239
|
|
|
NM_000642.3(AGL):c.4083A>G (p.Ile1361Met)
|
rs897156043
|
|
|
NM_000642.3(AGL):c.4093A>G (p.Ser1365Gly)
|
|
|
|
NM_000642.3(AGL):c.4105T>C (p.Ser1369Pro)
|
rs2100860247
|
|
|
NM_000642.3(AGL):c.4108A>G (p.Ser1370Gly)
|
rs1483370301
|
|
|
NM_000642.3(AGL):c.4118G>C (p.Cys1373Ser)
|
|
|
|
NM_000642.3(AGL):c.4120G>C (p.Asp1374His)
|
rs1553192955
|
|
|
NM_000642.3(AGL):c.4153A>G (p.Met1385Val)
|
|
|
|
NM_000642.3(AGL):c.4166C>G (p.Pro1389Arg)
|
rs2100868485
|
|
|
NM_000642.3(AGL):c.4169A>T (p.Glu1390Val)
|
|
|
|
NM_000642.3(AGL):c.4170G>C (p.Glu1390Asp)
|
rs1570514873
|
|
|
NM_000642.3(AGL):c.4177A>G (p.Thr1393Ala)
|
rs781588707
|
|
|
NM_000642.3(AGL):c.4181C>T (p.Thr1394Ile)
|
|
|
|
NM_000642.3(AGL):c.4183G>C (p.Glu1395Gln)
|
rs780593883
|
|
|
NM_000642.3(AGL):c.4198G>T (p.Ala1400Ser)
|
|
|
|
NM_000642.3(AGL):c.4207A>T (p.Ile1403Phe)
|
rs772976797
|
|
|
NM_000642.3(AGL):c.4209T>G (p.Ile1403Met)
|
rs1553193234
|
|
|
NM_000642.3(AGL):c.420TGA[1] (p.Asp141del)
|
rs1300198233
|
|
|
NM_000642.3(AGL):c.4213G>A (p.Glu1405Lys)
|
|
|
|
NM_000642.3(AGL):c.4225C>G (p.Leu1409Val)
|
rs758570060
|
|
|
NM_000642.3(AGL):c.4225C>T (p.Leu1409Phe)
|
rs758570060
|
|
|
NM_000642.3(AGL):c.4231C>T (p.Pro1411Ser)
|
rs1557792779
|
|
|
NM_000642.3(AGL):c.4250T>C (p.Leu1417Ser)
|
|
|
|
NM_000642.3(AGL):c.4253A>C (p.Asp1418Ala)
|
|
|
|
NM_000642.3(AGL):c.4255C>A (p.Pro1419Thr)
|
|
|
|
NM_000642.3(AGL):c.4259+3A>T
|
rs1655048891
|
|
|
NM_000642.3(AGL):c.4259+5G>A
|
rs780504025
|
|
|
NM_000642.3(AGL):c.4260-7T>A
|
|
|
|
NM_000642.3(AGL):c.4261G>A (p.Asp1421Asn)
|
rs750525703
|
|
|
NM_000642.3(AGL):c.4265T>C (p.Met1422Thr)
|
|
|
|
NM_000642.3(AGL):c.4268T>C (p.Val1423Ala)
|
|
|
|
NM_000642.3(AGL):c.4270T>C (p.Tyr1424His)
|
|
|
|
NM_000642.3(AGL):c.4282T>C (p.Tyr1428His)
|
|
|
|
NM_000642.3(AGL):c.4297G>A (p.Asp1433Asn)
|
|
|
|
NM_000642.3(AGL):c.4310A>G (p.Tyr1437Cys)
|
rs902469758
|
|
|
NM_000642.3(AGL):c.4325G>A (p.Gly1442Asp)
|
rs1281131845
|
|
|
NM_000642.3(AGL):c.4327T>C (p.Phe1443Leu)
|
|
|
|
NM_000642.3(AGL):c.4327T>G (p.Phe1443Val)
|
rs760127227
|
|
|
NM_000642.3(AGL):c.4330A>T (p.Asn1444Tyr)
|
|
|
|
NM_000642.3(AGL):c.4331A>T (p.Asn1444Ile)
|
rs143815159
|
|
|
NM_000642.3(AGL):c.4336C>T (p.His1446Tyr)
|
rs1655124280
|
|
|
NM_000642.3(AGL):c.4337A>G (p.His1446Arg)
|
rs1655124520
|
|
|
NM_000642.3(AGL):c.4347+6A>C
|
|
|
|
NM_000642.3(AGL):c.4347T>A (p.Pro1449=)
|
|
|
|
NM_000642.3(AGL):c.4366G>A (p.Gly1456Arg)
|
|
|
|
NM_000642.3(AGL):c.4378C>T (p.Arg1460Cys)
|
|
|
|
NM_000642.3(AGL):c.437G>T (p.Arg146Ile)
|
|
|
|
NM_000642.3(AGL):c.4386A>G (p.Lys1462=)
|
|
|
|
NM_000642.3(AGL):c.4404G>C (p.Leu1468Phe)
|
rs2100876196
|
|
|
NM_000642.3(AGL):c.4405A>G (p.Met1469Val)
|
rs747171944
|
|
|
NM_000642.3(AGL):c.4418C>A (p.Thr1473Asn)
|
|
|
|
NM_000642.3(AGL):c.442A>G (p.Arg148Gly)
|
rs574307189
|
|
|
NM_000642.3(AGL):c.4436T>A (p.Val1479Asp)
|
|
|
|
NM_000642.3(AGL):c.4441G>T (p.Val1481Phe)
|
|
|
|
NM_000642.3(AGL):c.4448A>G (p.Asn1483Ser)
|
|
|
|
NM_000642.3(AGL):c.4450G>T (p.Val1484Phe)
|
rs75076115
|
|
|
NM_000642.3(AGL):c.4454T>C (p.Leu1485Pro)
|
|
|
|
NM_000642.3(AGL):c.4460G>A (p.Arg1487Gln)
|
|
|
|
NM_000642.3(AGL):c.4465_4467del (p.Tyr1489del)
|
rs1553193523
|
|
|
NM_000642.3(AGL):c.4481+3A>T
|
rs953882029
|
|
|
NM_000642.3(AGL):c.4481+5G>A
|
|
|
|
NM_000642.3(AGL):c.4486C>T (p.Pro1496Ser)
|
|
|
|
NM_000642.3(AGL):c.4492A>G (p.Lys1498Glu)
|
rs1655510736
|
|
|
NM_000642.3(AGL):c.4514A>G (p.Asn1505Ser)
|
|
|
|
NM_000642.3(AGL):c.4520A>G (p.Asn1507Ser)
|
|
|
|
NM_000642.3(AGL):c.4524_4525delinsAA (p.Gln1509Lys)
|
|
|
|
NM_000642.3(AGL):c.4532G>T (p.Cys1511Phe)
|
|
|
|
NM_000642.3(AGL):c.4542C>G (p.Ser1514Arg)
|
rs367764339
|
|
|
NM_000642.3(AGL):c.4559G>A (p.Trp1520Ter)
|
rs2100902013
|
|
|
NM_000642.3(AGL):c.4561T>C (p.Ser1521Pro)
|
rs1406341617
|
|
|
NM_000642.3(AGL):c.4570A>G (p.Thr1524Ala)
|
rs995580660
|
|
|
NM_000642.3(AGL):c.4576C>T (p.Leu1526Phe)
|
|
|
|
NM_000642.3(AGL):c.4578_4579insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGCGGGGGGCTGCTCCGTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCCAATTGCTACTATTCTT (p.Leu1526_Glu1527insPhePhePhePhePhePheXaaXaaXaaXaaGlyGlyGlyLeuLeuArgAlaLeuGlyProArgGlyAlaArgProLeuLeuGlnProLeuProProGlyArgProIleAlaThrIleLeu)
|
|
|
|
NM_000642.3(AGL):c.4586T>G (p.Leu1529Arg)
|
|
|
|
NM_000642.3(AGL):c.461G>C (p.Gly154Ala)
|
rs199622995
|
|
|
NM_000642.3(AGL):c.476A>G (p.His159Arg)
|
rs2101093703
|
|
|
NM_000642.3(AGL):c.4G>A (p.Gly2Arg)
|
rs1218915839
|
|
|
NM_000642.3(AGL):c.50A>G (p.Lys17Arg)
|
|
|
|
NM_000642.3(AGL):c.514T>G (p.Cys172Gly)
|
rs2101093781
|
|
|
NM_000642.3(AGL):c.518_520dup (p.Tyr173_Ser174insTyr)
|
|
|
|
NM_000642.3(AGL):c.545A>C (p.Asn182Thr)
|
rs2101093877
|
|
|
NM_000642.3(AGL):c.545A>G (p.Asn182Ser)
|
rs2101093877
|
|
|
NM_000642.3(AGL):c.556T>G (p.Ser186Ala)
|
|
|
|
NM_000642.3(AGL):c.566A>G (p.Asn189Ser)
|
rs1571232301
|
|
|
NM_000642.3(AGL):c.573G>C (p.Lys191Asn)
|
rs781491884
|
|
|
NM_000642.3(AGL):c.594A>T (p.Gly198=)
|
rs2101094061
|
|
|
NM_000642.3(AGL):c.605A>T (p.Glu202Val)
|
|
|
|
NM_000642.3(AGL):c.60G>C (p.Lys20Asn)
|
rs769238334
|
|
|
NM_000642.3(AGL):c.623_624delinsAT (p.Trp208Tyr)
|
rs2101094202
|
|
|
NM_000642.3(AGL):c.64C>G (p.Leu22Val)
|
rs762204351
|
|
|
NM_000642.3(AGL):c.64C>T (p.Leu22Phe)
|
rs762204351
|
|
|
NM_000642.3(AGL):c.655A>G (p.Asn219Asp)
|
|
|
|
NM_000642.3(AGL):c.662C>T (p.Thr221Ile)
|
rs1415593167
|
|
|
NM_000642.3(AGL):c.673A>G (p.Ser225Gly)
|
|
|
|
NM_000642.3(AGL):c.677A>G (p.Lys226Arg)
|
rs2101112006
|
|
|
NM_000642.3(AGL):c.68T>A (p.Phe23Tyr)
|
rs1342547734
|
|
|
NM_000642.3(AGL):c.703G>A (p.Ala235Thr)
|
rs1571242911
|
|
|
NM_000642.3(AGL):c.71G>C (p.Arg24Thr)
|
rs772905291
|
|
|
NM_000642.3(AGL):c.71G>T (p.Arg24Ile)
|
rs772905291
|
|
|
NM_000642.3(AGL):c.722C>A (p.Ser241Tyr)
|
rs2101112172
|
|
|
NM_000642.3(AGL):c.724C>T (p.Pro242Ser)
|
rs530123638
|
|
|
NM_000642.3(AGL):c.736C>T (p.Pro246Ser)
|
rs370391954
|
|
|
NM_000642.3(AGL):c.742T>C (p.Trp248Arg)
|
rs2101112237
|
|
|
NM_000642.3(AGL):c.757G>C (p.Ala253Pro)
|
rs745379427
|
|
|
NM_000642.3(AGL):c.757G>T (p.Ala253Ser)
|
rs745379427
|
|
|
NM_000642.3(AGL):c.758C>G (p.Ala253Gly)
|
|
|
|
NM_000642.3(AGL):c.763T>C (p.Trp255Arg)
|
|
|
|
NM_000642.3(AGL):c.76G>C (p.Glu26Gln)
|
|
|
|
NM_000642.3(AGL):c.771C>G (p.Phe257Leu)
|
|
|
|
NM_000642.3(AGL):c.782T>C (p.Val261Ala)
|
|
|
|
NM_000642.3(AGL):c.782T>G (p.Val261Gly)
|
rs1571243125
|
|
|
NM_000642.3(AGL):c.795A>C (p.Lys265Asn)
|
rs1441216143
|
|
|
NM_000642.3(AGL):c.801A>C (p.Lys267Asn)
|
|
|
|
NM_000642.3(AGL):c.811A>G (p.Ile271Val)
|
rs2101112504
|
|
|
NM_000642.3(AGL):c.82+6T>C
|
rs1648918421
|
|
|
NM_000642.3(AGL):c.833A>G (p.Asp278Gly)
|
|
|
|
NM_000642.3(AGL):c.837C>A (p.His279Gln)
|
rs1242665410
|
|
|
NM_000642.3(AGL):c.874A>C (p.Ile292Leu)
|
rs1272589048
|
|
|
NM_000642.3(AGL):c.880C>G (p.Pro294Ala)
|
rs886044917
|
|
|
NM_000642.3(AGL):c.889A>G (p.Lys297Glu)
|
rs2101113398
|
|
|
NM_000642.3(AGL):c.894_895delinsTA (p.Trp299Arg)
|
|
|
|
NM_000642.3(AGL):c.894_895delinsTC (p.Trp299Arg)
|
rs2101113438
|
|
|
NM_000642.3(AGL):c.894_895delinsTG (p.Trp299Gly)
|
|
|
|
NM_000642.3(AGL):c.89A>G (p.Glu30Gly)
|
|
|
|
NM_000642.3(AGL):c.909A>G (p.Gln303=)
|
rs2101113480
|
|
|
NM_000642.3(AGL):c.916G>A (p.Val306Ile)
|
rs764208593
|
|
|
NM_000642.3(AGL):c.919A>T (p.Asn307Tyr)
|
rs774810929
|
|
|
NM_000642.3(AGL):c.922A>G (p.Lys308Glu)
|
rs2101113540
|
|
|
NM_000642.3(AGL):c.923A>G (p.Lys308Arg)
|
|
|
|
NM_000642.3(AGL):c.929T>C (p.Val310Ala)
|
rs2101113568
|
|
|
NM_000642.3(AGL):c.940A>G (p.Arg314Gly)
|
rs756443678
|
|
|
NM_000642.3(AGL):c.941G>A (p.Arg314Lys)
|
rs2101113628
|
|
|
NM_000642.3(AGL):c.949C>T (p.Leu317Phe)
|
rs1557754822
|
|
|
NM_000642.3(AGL):c.959-72_965dup
|
rs1553185268
|
|
|
NM_000642.3(AGL):c.965G>A (p.Arg322Lys)
|
|
|
|
NM_000642.3(AGL):c.974C>G (p.Thr325Ser)
|
rs2101126080
|
|
|
NM_000642.3(AGL):c.978G>C (p.Lys326Asn)
|
|
|
|
NM_000642.3(AGL):c.980C>G (p.Ser327Cys)
|
|
|
|
NM_000642.3(AGL):c.994C>T (p.His332Tyr)
|
|
|
|
NM_000642.3(AGL):c.995A>G (p.His332Arg)
|
rs2101126148
|
|
|
NM_000891.3(KCNJ2):c.1007A>G (p.Tyr336Cys)
|
|
|
|
NM_000891.3(KCNJ2):c.1010A>G (p.Tyr337Cys)
|
|
|
|
NM_000891.3(KCNJ2):c.1015G>C (p.Val339Leu)
|
|
|
|
NM_000891.3(KCNJ2):c.101A>G (p.Lys34Arg)
|
rs772815957
|
|
|
NM_000891.3(KCNJ2):c.1043A>G (p.Tyr348Cys)
|
rs2144377812
|
|
|
NM_000891.3(KCNJ2):c.1063C>T (p.Leu355Phe)
|
rs1411366891
|
|
|
NM_000891.3(KCNJ2):c.1067G>T (p.Cys356Phe)
|
rs368406938
|
|
|
NM_000891.3(KCNJ2):c.106A>G (p.Lys36Glu)
|
|
|
|
NM_000891.3(KCNJ2):c.1085C>A (p.Ala362Glu)
|
|
|
|
NM_000891.3(KCNJ2):c.1088A>T (p.Glu363Val)
|
rs2074391294
|
|
|
NM_000891.3(KCNJ2):c.1091A>G (p.Lys364Arg)
|
rs1060500054
|
|
|
NM_000891.3(KCNJ2):c.1096T>A (p.Tyr366Asn)
|
rs2144377919
|
|
|
NM_000891.3(KCNJ2):c.1103T>A (p.Leu368His)
|
rs2144377937
|
|
|
NM_000891.3(KCNJ2):c.1109A>G (p.Asn370Ser)
|
rs2144377959
|
|
|
NM_000891.3(KCNJ2):c.1112C>A (p.Ala371Glu)
|
rs780233256
|
|
|
NM_000891.3(KCNJ2):c.1116T>G (p.Asn372Lys)
|
rs2144377969
|
|
|
NM_000891.3(KCNJ2):c.1148C>G (p.Thr383Arg)
|
|
|
|
NM_000891.3(KCNJ2):c.1151G>A (p.Ser384Asn)
|
|
|
|
NM_000891.3(KCNJ2):c.1169G>T (p.Ser390Ile)
|
|
|
|
NM_000891.3(KCNJ2):c.1181T>C (p.Val394Ala)
|
|
|
|
NM_000891.3(KCNJ2):c.1190G>A (p.Ser397Asn)
|
rs1567823283
|
|
|
NM_000891.3(KCNJ2):c.1193C>A (p.Thr398Asn)
|
|
|
|
NM_000891.3(KCNJ2):c.1196G>A (p.Ser399Asn)
|
rs1598211624
|
|
|
NM_000891.3(KCNJ2):c.1196G>C (p.Ser399Thr)
|
rs1598211624
|
|
|
NM_000891.3(KCNJ2):c.1198A>G (p.Thr400Ala)
|
|
|
|
NM_000891.3(KCNJ2):c.119G>C (p.Arg40Pro)
|
rs766143485
|
|
|
NM_000891.3(KCNJ2):c.119G>T (p.Arg40Leu)
|
|
|
|
NM_000891.3(KCNJ2):c.1202A>G (p.Asp401Gly)
|
|
|
|
NM_000891.3(KCNJ2):c.1212del (p.Asp405fs)
|
rs2074392185
|
|
|
NM_000891.3(KCNJ2):c.1215C>A (p.Asp405Glu)
|
rs863224374
|
|
|
NM_000891.3(KCNJ2):c.1222C>T (p.Leu408Phe)
|
rs753757610
|
|
|
NM_000891.3(KCNJ2):c.1235C>T (p.Ala412Val)
|
|
|
|
NM_000891.3(KCNJ2):c.1237A>T (p.Ser413Cys)
|
rs910587867
|
|
|
NM_000891.3(KCNJ2):c.1238G>T (p.Ser413Ile)
|
rs779960704
|
|
|
NM_000891.3(KCNJ2):c.1244C>A (p.Pro415His)
|
|
|
|
NM_000891.3(KCNJ2):c.1264C>T (p.Arg422Trp)
|
rs1478741381
|
|
|
NM_000891.3(KCNJ2):c.1265G>A (p.Arg422Gln)
|
|
|
|
NM_000891.3(KCNJ2):c.1265G>T (p.Arg422Leu)
|
rs199473390
|
|
|
NM_000891.3(KCNJ2):c.1284A>G (p.Ter428Trp)
|
|
|
|
NM_000891.3(KCNJ2):c.131G>A (p.Arg44Lys)
|
rs2144376473
|
|
|
NM_000891.3(KCNJ2):c.136C>G (p.Arg46Gly)
|
rs2074385043
|
|
|
NM_000891.3(KCNJ2):c.136C>T (p.Arg46Cys)
|
rs2074385043
|
|
|
NM_000891.3(KCNJ2):c.13C>G (p.Arg5Gly)
|
|
|
|
NM_000891.3(KCNJ2):c.13C>T (p.Arg5Ter)
|
rs1042485
|
|
|
NM_000891.3(KCNJ2):c.142G>A (p.Val48Met)
|
|
|
|
NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg)
|
rs2144376499
|
|
|
NM_000891.3(KCNJ2):c.158A>G (p.His53Arg)
|
rs1598211051
|
|
|
NM_000891.3(KCNJ2):c.160T>G (p.Cys54Gly)
|
rs2144376507
|
|
|
NM_000891.3(KCNJ2):c.191A>G (p.Lys64Arg)
|
rs2144376559
|
|
|
NM_000891.3(KCNJ2):c.205C>T (p.Leu69Phe)
|
|
|
|
NM_000891.3(KCNJ2):c.208G>A (p.Ala70Thr)
|
rs375605948
|
|
|
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His)
|
rs199473369
|
|
|
NM_000891.3(KCNJ2):c.214A>G (p.Ile72Val)
|
|
|
|
NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys)
|
|
|
|
NM_000891.3(KCNJ2):c.226T>G (p.Cys76Gly)
|
rs786205812
|
|
|
NM_000891.3(KCNJ2):c.232G>C (p.Asp78His)
|
rs199473372
|
|
|
NM_000891.3(KCNJ2):c.238C>T (p.Arg80Cys)
|
rs2074385891
|
|
|
NM_000891.3(KCNJ2):c.239G>A (p.Arg80His)
|
rs2144376668
|
|
|
NM_000891.3(KCNJ2):c.251T>C (p.Met84Thr)
|
|
|
|
NM_000891.3(KCNJ2):c.252G>A (p.Met84Ile)
|
|
|
|
NM_000891.3(KCNJ2):c.259A>G (p.Ile87Val)
|
rs748958117
|
|
|
NM_000891.3(KCNJ2):c.261C>G (p.Ile87Met)
|
|
|
|
NM_000891.3(KCNJ2):c.265T>C (p.Cys89Arg)
|
|
|
|
NM_000891.3(KCNJ2):c.271G>A (p.Ala91Thr)
|
rs2144376712
|
|
|
NM_000891.3(KCNJ2):c.272C>T (p.Ala91Val)
|
|
|
|
NM_000891.3(KCNJ2):c.290T>C (p.Leu97Pro)
|
rs2144376751
|
|
|
NM_000891.3(KCNJ2):c.291_293del (p.Phe99del)
|
rs2074386225
|
|
|
NM_000891.3(KCNJ2):c.299G>T (p.Gly100Val)
|
rs1598211153
|
|
|
NM_000891.3(KCNJ2):c.317T>C (p.Ile106Thr)
|
|
|
|
NM_000891.3(KCNJ2):c.31A>G (p.Ile11Val)
|
|
|
|
NM_000891.3(KCNJ2):c.326T>A (p.Leu109His)
|
|
|
|
NM_000891.3(KCNJ2):c.326T>C (p.Leu109Pro)
|
rs1567822991
|
|
|
NM_000891.3(KCNJ2):c.341A>G (p.Asp114Gly)
|
rs2074386589
|
|
|
NM_000891.3(KCNJ2):c.371C>G (p.Ser124Cys)
|
rs2144376873
|
|
|
NM_000891.3(KCNJ2):c.373G>A (p.Glu125Lys)
|
rs2074386756
|
|
|
NM_000891.3(KCNJ2):c.394G>A (p.Ala132Thr)
|
rs2074386902
|
|
|
NM_000891.3(KCNJ2):c.410T>A (p.Ile137Asn)
|
rs772055408
|
|
|
NM_000891.3(KCNJ2):c.410T>C (p.Ile137Thr)
|
|
|
|
NM_000891.3(KCNJ2):c.416C>T (p.Thr139Ile)
|
rs1060500052
|
|
|
NM_000891.3(KCNJ2):c.431G>T (p.Gly144Val)
|
|
|
|
NM_000891.3(KCNJ2):c.437G>A (p.Gly146Asp)
|
rs199473379
|
|
|
NM_000891.3(KCNJ2):c.452C>T (p.Thr151Met)
|
|
|
|
NM_000891.3(KCNJ2):c.459A>C (p.Glu153Asp)
|
|
|
|
NM_000891.3(KCNJ2):c.460T>G (p.Cys154Gly)
|
rs2144376982
|
|
|
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr)
|
rs199473380
|
|
|
NM_000891.3(KCNJ2):c.478A>G (p.Met160Val)
|
|
|
|
NM_000891.3(KCNJ2):c.481G>A (p.Val161Met)
|
rs2074387480
|
|
|
NM_000891.3(KCNJ2):c.499G>T (p.Val167Leu)
|
rs140147979
|
|
|
NM_000891.3(KCNJ2):c.4G>C (p.Gly2Arg)
|
|
|
|
NM_000891.3(KCNJ2):c.500_514dup (p.Val167_Ile171dup)
|
rs2144377032
|
|
|
NM_000891.3(KCNJ2):c.517G>T (p.Ala173Ser)
|
rs778699148
|
|
|
NM_000891.3(KCNJ2):c.523A>C (p.Ile175Leu)
|
rs761209037
|
|
|
NM_000891.3(KCNJ2):c.52G>A (p.Gly18Ser)
|
rs947488726
|
|
|
NM_000891.3(KCNJ2):c.52G>C (p.Gly18Arg)
|
|
|
|
NM_000891.3(KCNJ2):c.553A>G (p.Lys185Glu)
|
|
|
|
NM_000891.3(KCNJ2):c.566G>C (p.Arg189Thr)
|
rs199473381
|
|
|
NM_000891.3(KCNJ2):c.569A>T (p.Asn190Ile)
|
rs1598211282
|
|
|
NM_000891.3(KCNJ2):c.578T>A (p.Leu193His)
|
rs1555603955
|
|
|
NM_000891.3(KCNJ2):c.578T>G (p.Leu193Arg)
|
|
|
|
NM_000891.3(KCNJ2):c.580G>T (p.Val194Phe)
|
|
|
|
NM_000891.3(KCNJ2):c.586A>C (p.Ser196Arg)
|
|
|
|
NM_000891.3(KCNJ2):c.617G>A (p.Gly206Asp)
|
|
|
|
NM_000891.3(KCNJ2):c.633G>A (p.Met211Ile)
|
|
|
|
NM_000891.3(KCNJ2):c.636G>A (p.Trp212Ter)
|
rs2144377213
|
|
|
NM_000891.3(KCNJ2):c.638G>A (p.Arg213Gln)
|
|
|
|
NM_000891.3(KCNJ2):c.643G>T (p.Gly215Cys)
|
|
|
|
NM_000891.3(KCNJ2):c.647A>T (p.Asn216Ile)
|
rs2074388429
|
|
|
NM_000891.3(KCNJ2):c.653G>T (p.Arg218Leu)
|
rs199473384
|
|
|
NM_000891.3(KCNJ2):c.659G>A (p.Ser220Asn)
|
rs2074388522
|
|
|
NM_000891.3(KCNJ2):c.668T>G (p.Val223Gly)
|
rs1555603969
|
|
|
NM_000891.3(KCNJ2):c.683G>A (p.Arg228Gln)
|
rs1234083049
|
|
|
NM_000891.3(KCNJ2):c.706A>C (p.Ile236Leu)
|
|
|
|
NM_000891.3(KCNJ2):c.70A>G (p.Met24Val)
|
|
|
|
NM_000891.3(KCNJ2):c.721G>A (p.Glu241Lys)
|
|
|
|
NM_000891.3(KCNJ2):c.743T>C (p.Ile248Thr)
|
|
|
|
NM_000891.3(KCNJ2):c.744A>G (p.Ile248Met)
|
|
|
|
NM_000891.3(KCNJ2):c.763G>C (p.Asp255His)
|
|
|
|
NM_000891.3(KCNJ2):c.784T>G (p.Phe262Val)
|
rs2074389312
|
|
|
NM_000891.3(KCNJ2):c.877G>C (p.Glu293Gln)
|
rs2144377579
|
|
|
NM_000891.3(KCNJ2):c.89T>C (p.Phe30Ser)
|
|
|
|
NM_000891.3(KCNJ2):c.901A>C (p.Met301Leu)
|
rs786205818
|
|
|
NM_000891.3(KCNJ2):c.901A>G (p.Met301Val)
|
rs786205818
|
|
|
NM_000891.3(KCNJ2):c.922A>T (p.Thr308Ser)
|
rs2144377666
|
|
|
NM_000891.3(KCNJ2):c.923C>T (p.Thr308Met)
|
|
|
|
NM_000891.3(KCNJ2):c.929A>G (p.Gln310Arg)
|
rs1598211487
|
|
|
NM_000891.3(KCNJ2):c.954T>G (p.Asn318Lys)
|
|
|
|
NM_000891.3(KCNJ2):c.96C>G (p.Asn32Lys)
|
|
|
|
NM_000891.3(KCNJ2):c.979G>A (p.Glu327Lys)
|
|
|
|
NM_000891.3(KCNJ2):c.97G>C (p.Gly33Arg)
|
rs375727662
|
|
|
NM_000925.4(PDHB):c.1006A>G (p.Lys336Glu)
|
|
|
|
NM_000925.4(PDHB):c.1035G>C (p.Gln345His)
|
|
|
|
NM_000925.4(PDHB):c.1050A>G (p.Ile350Met)
|
|
|
|
NM_000925.4(PDHB):c.1057A>G (p.Ile353Val)
|
rs748366089
|
|
|
NM_000925.4(PDHB):c.121C>G (p.Gln41Glu)
|
|
|
|
NM_000925.4(PDHB):c.13T>C (p.Ser5Pro)
|
|
|
|
NM_000925.4(PDHB):c.14C>A (p.Ser5Tyr)
|
rs1053613186
|
|
|
NM_000925.4(PDHB):c.25C>A (p.Arg9=)
|
rs747302644
|
|
|
NM_000925.4(PDHB):c.292G>A (p.Gly98Ser)
|
rs2062921405
|
|
|
NM_000925.4(PDHB):c.443A>G (p.Asn148Ser)
|
|
|
|
NM_000925.4(PDHB):c.449C>A (p.Ala150Asp)
|
|
|
|
NM_000925.4(PDHB):c.4G>A (p.Ala2Thr)
|
|
|
|
NM_000925.4(PDHB):c.520G>A (p.Val174Met)
|
|
|
|
NM_000925.4(PDHB):c.5C>T (p.Ala2Val)
|
|
|
|
NM_000925.4(PDHB):c.660T>G (p.Asp220Glu)
|
|
|
|
NM_000925.4(PDHB):c.721T>C (p.Ser241Pro)
|
|
|
|
NM_000925.4(PDHB):c.775G>A (p.Glu259Lys)
|
rs2062903901
|
|
|
NM_000925.4(PDHB):c.776A>G (p.Glu259Gly)
|
|
|
|
NM_000925.4(PDHB):c.781G>A (p.Val261Ile)
|
|
|
|
NM_000925.4(PDHB):c.792+3del
|
|
|
|
NM_000925.4(PDHB):c.806G>A (p.Arg269His)
|
|
|
|
NM_000925.4(PDHB):c.836T>C (p.Ile279Thr)
|
rs1392622459
|
|
|
NM_000925.4(PDHB):c.96+6A>T
|
|
|
|
NM_001008216.2(GALE):c.1003C>T (p.Arg335Cys)
|
|
|
|
NM_001008216.2(GALE):c.110A>G (p.Asn37Ser)
|
|
|
|
NM_001008216.2(GALE):c.13G>T (p.Val5Leu)
|
rs1570635677
|
|
|
NM_001008216.2(GALE):c.172C>T (p.Arg58Cys)
|
|
|
|
NM_001008216.2(GALE):c.224G>A (p.Arg75His)
|
|
|
|
NM_001008216.2(GALE):c.267G>A (p.Ala89=)
|
|
|
|
NM_001008216.2(GALE):c.286G>A (p.Glu96Lys)
|
|
|
|
NM_001008216.2(GALE):c.290C>T (p.Ser97Leu)
|
|
|
|
NM_001008216.2(GALE):c.308A>G (p.Asp103Gly)
|
rs28940883
|
|
|
NM_001008216.2(GALE):c.31G>T (p.Ala11Ser)
|
rs754850112
|
|
|
NM_001008216.2(GALE):c.358A>G (p.Lys120Glu)
|
|
|
|
NM_001008216.2(GALE):c.409G>A (p.Gly137Arg)
|
rs372715385
|
|
|
NM_001008216.2(GALE):c.442C>A (p.His148Asn)
|
rs1006253988
|
|
|
NM_001008216.2(GALE):c.472G>A (p.Gly158Ser)
|
|
|
|
NM_001008216.2(GALE):c.488T>G (p.Phe163Cys)
|
rs1570632874
|
|
|
NM_001008216.2(GALE):c.493G>C (p.Glu165Gln)
|
|
|
|
NM_001008216.2(GALE):c.529-22_535dup
|
|
|
|
NM_001008216.2(GALE):c.560A>G (p.Asn187Ser)
|
|
|
|
NM_001008216.2(GALE):c.689A>G (p.Tyr230Cys)
|
|
|
|
NM_001008216.2(GALE):c.699_700insTCAGAG (p.Glu233_Asp234insSerGlu)
|
|
|
|
NM_001008216.2(GALE):c.713T>C (p.Val238Ala)
|
rs1348284514
|
|
|
NM_001008216.2(GALE):c.80A>G (p.Tyr27Cys)
|
|
|
|
NM_001008216.2(GALE):c.873+6C>T
|
rs1553130228
|
|
|
NM_001008216.2(GALE):c.873G>A (p.Lys291=)
|
rs1570630092
|
|
|
NM_001008216.2(GALE):c.904G>T (p.Gly302Cys)
|
rs146052241
|
|
|
NM_001008216.2(GALE):c.988+5G>A
|
rs1035870470
|
|
|
NM_001008216.2(GALE):c.989G>A (p.Cys330Tyr)
|
rs768527360
|
|
|
NM_001014436.3(DBNL):c.*3913C>A
|
|
|
|
NM_001014436.3(DBNL):c.*4194G>A
|
rs2128796381
|
|
|
NM_001040716.2(PC):c.1021G>A (p.Asp341Asn)
|
|
|
|
NM_001040716.2(PC):c.1021G>T (p.Asp341Tyr)
|
rs370810518
|
|
|
NM_001040716.2(PC):c.1023C>T (p.Asp341=)
|
|
|
|
NM_001040716.2(PC):c.1024G>A (p.Val342Ile)
|
|
|
|
NM_001040716.2(PC):c.1048C>G (p.His350Asp)
|
rs866715653
|
|
|
NM_001040716.2(PC):c.1052T>C (p.Val351Ala)
|
rs1261989853
|
|
|
NM_001040716.2(PC):c.1073C>G (p.Pro358Arg)
|
|
|
|
NM_001040716.2(PC):c.1103G>A (p.Arg368His)
|
|
|
|
NM_001040716.2(PC):c.110T>C (p.Ile37Thr)
|
|
|
|
NM_001040716.2(PC):c.111C>G (p.Ile37Met)
|
|
|
|
NM_001040716.2(PC):c.1177C>T (p.Arg393Cys)
|
|
|
|
NM_001040716.2(PC):c.1178G>A (p.Arg393His)
|
|
|
|
NM_001040716.2(PC):c.1185+5_1185+8del
|
rs748620956
|
|
|
NM_001040716.2(PC):c.118G>C (p.Val40Leu)
|
rs2135943669
|
|
|
NM_001040716.2(PC):c.1192C>T (p.Arg398Trp)
|
|
|
|
NM_001040716.2(PC):c.1295A>G (p.His432Arg)
|
|
|
|
NM_001040716.2(PC):c.1352G>A (p.Arg451His)
|
|
|
|
NM_001040716.2(PC):c.1358G>A (p.Arg453Gln)
|
|
|
|
NM_001040716.2(PC):c.1369-8T>A
|
|
|
|
NM_001040716.2(PC):c.1487_1492del (p.Arg496_Ala497del)
|
|
|
|
NM_001040716.2(PC):c.1544C>T (p.Pro515Leu)
|
|
|
|
NM_001040716.2(PC):c.1573A>G (p.Thr525Ala)
|
|
|
|
NM_001040716.2(PC):c.1672C>T (p.Arg558Trp)
|
|
|
|
NM_001040716.2(PC):c.1682C>T (p.Pro561Leu)
|
|
|
|
NM_001040716.2(PC):c.1741C>T (p.Arg581Cys)
|
|
|
|
NM_001040716.2(PC):c.1742G>A (p.Arg581His)
|
|
|
|
NM_001040716.2(PC):c.1747C>T (p.Arg583Cys)
|
|
|
|
NM_001040716.2(PC):c.1804T>C (p.Phe602Leu)
|
rs2135813970
|
|
|
NM_001040716.2(PC):c.1843G>A (p.Ala615Thr)
|
rs773466708
|
|
|
NM_001040716.2(PC):c.1843G>T (p.Ala615Ser)
|
|
|
|
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp)
|
rs1591122325
|
|
|
NM_001040716.2(PC):c.1891C>T (p.Arg631Trp)
|
|
|
|
NM_001040716.2(PC):c.1937C>G (p.Ala646Gly)
|
rs1565213970
|
|
|
NM_001040716.2(PC):c.1940A>G (p.Asn647Ser)
|
|
|
|
NM_001040716.2(PC):c.196A>G (p.Ile66Val)
|
rs1409511654
|
|
|
NM_001040716.2(PC):c.1972G>A (p.Val658Met)
|
|
|
|
NM_001040716.2(PC):c.2026G>A (p.Val676Met)
|
|
|
|
NM_001040716.2(PC):c.203C>T (p.Ser68Phe)
|
|
|
|
NM_001040716.2(PC):c.2142C>G (p.Ser714Arg)
|
rs1945464815
|
|
|
NM_001040716.2(PC):c.2143C>T (p.Arg715Cys)
|
rs1945464671
|
|
|
NM_001040716.2(PC):c.215C>T (p.Thr72Met)
|
|
|
|
NM_001040716.2(PC):c.2164T>C (p.Tyr722His)
|
|
|
|
NM_001040716.2(PC):c.2170A>T (p.Met724Leu)
|
|
|
|
NM_001040716.2(PC):c.2192T>C (p.Val731Ala)
|
|
|
|
NM_001040716.2(PC):c.2209A>G (p.Ile737Val)
|
|
|
|
NM_001040716.2(PC):c.2227A>G (p.Met743Val)
|
rs1591118129
|
|
|
NM_001040716.2(PC):c.2285G>C (p.Arg762Pro)
|
|
|
|
NM_001040716.2(PC):c.229C>T (p.Arg77Trp)
|
rs928225163
|
|
|
NM_001040716.2(PC):c.2320G>A (p.Asp774Asn)
|
rs1453225876
|
|
|
NM_001040716.2(PC):c.2333C>T (p.Ala778Val)
|
rs1272540070
|
|
|
NM_001040716.2(PC):c.2338G>T (p.Val780Leu)
|
rs572440768
|
|
|
NM_001040716.2(PC):c.2342C>T (p.Ala781Val)
|
rs2135799932
|
|
|
NM_001040716.2(PC):c.2380G>C (p.Val794Leu)
|
|
|
|
NM_001040716.2(PC):c.2423C>A (p.Pro808His)
|
rs1591116883
|
|
|
NM_001040716.2(PC):c.2447G>A (p.Cys816Tyr)
|
rs1235315835
|
|
|
NM_001040716.2(PC):c.2494T>A (p.Phe832Ile)
|
rs1945409904
|
|
|
NM_001040716.2(PC):c.2511_2531dup (p.Leu844_Tyr845insTrpGluGlyAlaArgGlyLeu)
|
|
|
|
NM_001040716.2(PC):c.2544C>G (p.Phe848Leu)
|
rs1270012365
|
|
|
NM_001040716.2(PC):c.256A>G (p.Ile86Val)
|
rs1946744013
|
|
|
NM_001040716.2(PC):c.259G>A (p.Gly87Ser)
|
|
|
|
NM_001040716.2(PC):c.259G>C (p.Gly87Arg)
|
rs770055702
|
|
|
NM_001040716.2(PC):c.2607C>T (p.Gly869=)
|
|
|
|
NM_001040716.2(PC):c.2623C>T (p.His875Tyr)
|
|
|
|
NM_001040716.2(PC):c.2667G>C (p.Glu889Asp)
|
rs1006994126
|
|
|
NM_001040716.2(PC):c.2755C>A (p.Gln919Lys)
|
|
|
|
NM_001040716.2(PC):c.2782C>T (p.Arg928Trp)
|
|
|
|
NM_001040716.2(PC):c.2852A>G (p.Tyr951Cys)
|
rs2135791974
|
|
|
NM_001040716.2(PC):c.2902C>G (p.Leu968Val)
|
|
|
|
NM_001040716.2(PC):c.2976G>C (p.Lys992Asn)
|
rs368895283
|
|
|
NM_001040716.2(PC):c.2989C>T (p.Arg997Trp)
|
|
|
|
NM_001040716.2(PC):c.2990G>A (p.Arg997Gln)
|
|
|
|
NM_001040716.2(PC):c.311A>T (p.Lys104Met)
|
|
|
|
NM_001040716.2(PC):c.3127A>G (p.Lys1043Glu)
|
rs1470869408
|
|
|
NM_001040716.2(PC):c.316G>T (p.Ala106Ser)
|
rs868221703
|
|
|
NM_001040716.2(PC):c.3182A>G (p.Lys1061Arg)
|
|
|
|
NM_001040716.2(PC):c.3199G>A (p.Asp1067Asn)
|
|
|
|
NM_001040716.2(PC):c.3249G>T (p.Gln1083His)
|
|
|
|
NM_001040716.2(PC):c.3288+4T>C
|
|
|
|
NM_001040716.2(PC):c.3344C>T (p.Pro1115Leu)
|
rs2135783978
|
|
|
NM_001040716.2(PC):c.3380C>T (p.Ala1127Val)
|
rs200217380
|
|
|
NM_001040716.2(PC):c.3442G>T (p.Val1148Leu)
|
rs1298569042
|
|
|
NM_001040716.2(PC):c.3514G>T (p.Asp1172Tyr)
|
|
|
|
NM_001040716.2(PC):c.3526G>A (p.Glu1176Lys)
|
|
|
|
NM_001040716.2(PC):c.410G>A (p.Arg137Gln)
|
|
|
|
NM_001040716.2(PC):c.410G>T (p.Arg137Leu)
|
rs772619045
|
|
|
NM_001040716.2(PC):c.439C>G (p.Arg147Gly)
|
rs529087425
|
|
|
NM_001040716.2(PC):c.439C>T (p.Arg147Cys)
|
|
|
|
NM_001040716.2(PC):c.446T>C (p.Met149Thr)
|
|
|
|
NM_001040716.2(PC):c.485C>T (p.Ala162Val)
|
rs752714051
|
|
|
NM_001040716.2(PC):c.551C>G (p.Ser184Cys)
|
|
|
|
NM_001040716.2(PC):c.562G>A (p.Gly188Ser)
|
|
|
|
NM_001040716.2(PC):c.610A>C (p.Met204Leu)
|
|
|
|
NM_001040716.2(PC):c.667G>C (p.Glu223Gln)
|
|
|
|
NM_001040716.2(PC):c.751+4A>G
|
rs2135937467
|
|
|
NM_001040716.2(PC):c.77C>T (p.Ser26Phe)
|
rs2135943988
|
|
|
NM_001040716.2(PC):c.788G>A (p.Arg263Gln)
|
rs769177104
|
|
|
NM_001040716.2(PC):c.820G>A (p.Val274Met)
|
|
|
|
NM_001040716.2(PC):c.838G>A (p.Ala280Thr)
|
rs752585997
|
|
|
NM_001040716.2(PC):c.863G>A (p.Arg288Gln)
|
|
|
|
NM_001040716.2(PC):c.92G>A (p.Arg31His)
|
|
|
|
NM_001040716.2(PC):c.952G>A (p.Gly318Ser)
|
|
|
|
NM_001099857.5(IKBKG):c.-16+1G>T
|
rs2148357351
|
|
|
NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu)
|
rs1326123837
|
|
|
NM_001164277.2(SLC37A4):c.1013T>C (p.Phe338Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.1022C>T (p.Ser341Phe)
|
rs938040106
|
|
|
NM_001164277.2(SLC37A4):c.1025C>T (p.Ser342Leu)
|
|
|
|
NM_001164277.2(SLC37A4):c.1036A>C (p.Ile346Leu)
|
|
|
|
NM_001164277.2(SLC37A4):c.1036A>G (p.Ile346Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.1038T>C (p.Ile346=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1054A>G (p.Ile352Val)
|
rs1943524404
|
|
|
NM_001164277.2(SLC37A4):c.1063_1064delinsAG (p.Glu355Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.1064A>C (p.Glu355Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.1072C>T (p.Pro358Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.107C>T (p.Pro36Leu)
|
rs781797026
|
|
|
NM_001164277.2(SLC37A4):c.1085G>C (p.Cys362Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.1099G>C (p.Ala367Pro)
|
|
|
|
NM_001164277.2(SLC37A4):c.1115T>C (p.Met372Thr)
|
rs1555190443
|
|
|
NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr)
|
rs1565686175
|
|
|
NM_001164277.2(SLC37A4):c.1121A>G (p.Asn374Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+17A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+4A>C
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+5G>A
|
rs2134627689
|
|
|
NM_001164277.2(SLC37A4):c.1124T>C (p.Val375Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-15C>G
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-3C>A
|
|
|
|
NM_001164277.2(SLC37A4):c.1127G>A (p.Gly376Asp)
|
rs781962569
|
|
|
NM_001164277.2(SLC37A4):c.1170C>T (p.His390=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1176T>A (p.Ser392Arg)
|
rs782552989
|
|
|
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg)
|
rs782552989
|
|
|
NM_001164277.2(SLC37A4):c.1201_1218dup (p.Ala406_Ser407insGluValIleCysAlaAla)
|
|
|
|
NM_001164277.2(SLC37A4):c.1216G>C (p.Ala406Pro)
|
|
|
|
NM_001164277.2(SLC37A4):c.122A>G (p.Glu41Gly)
|
rs782470624
|
|
|
NM_001164277.2(SLC37A4):c.1231_1232delinsGC (p.Phe411Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.1249A>G (p.Ile417Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.1256C>T (p.Thr419Ile)
|
rs782594411
|
|
|
NM_001164277.2(SLC37A4):c.1258A>G (p.Lys420Glu)
|
rs890913792
|
|
|
NM_001164277.2(SLC37A4):c.1265G>C (p.Gly422Ala)
|
rs2134626279
|
|
|
NM_001164277.2(SLC37A4):c.1271T>A (p.Val424Glu)
|
|
|
|
NM_001164277.2(SLC37A4):c.1277A>G (p.Lys426Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.1279_1280delinsGC (p.Lys427Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser)
|
rs781846380
|
|
|
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp)
|
rs1483724786
|
|
|
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?)
|
rs1592107594
|
|
|
NM_001164277.2(SLC37A4):c.131T>C (p.Leu44Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.137A>G (p.Lys46Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser)
|
rs571267951
|
|
|
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg)
|
rs571267951
|
|
|
NM_001164277.2(SLC37A4):c.13GGCTAT[3] (p.5GY[3])
|
rs782663171
|
|
|
NM_001164277.2(SLC37A4):c.148+4A>G
|
rs1943672237
|
|
|
NM_001164277.2(SLC37A4):c.148+6C>T
|
rs1565691594
|
|
|
NM_001164277.2(SLC37A4):c.149-9T>C
|
|
|
|
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)
|
rs193302877
|
|
|
NM_001164277.2(SLC37A4):c.149G>T (p.Gly50Val)
|
rs193302877
|
|
|
NM_001164277.2(SLC37A4):c.14G>A (p.Gly5Asp)
|
rs2134644442
|
|
|
NM_001164277.2(SLC37A4):c.154A>C (p.Ile52Leu)
|
rs1565690903
|
|
|
NM_001164277.2(SLC37A4):c.184A>G (p.Ile62Val)
|
rs1555191625
|
|
|
NM_001164277.2(SLC37A4):c.189C>G (p.Ser63Arg)
|
rs1359256648
|
|
|
NM_001164277.2(SLC37A4):c.191A>G (p.Lys64Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.217C>G (p.Gln73Glu)
|
rs1555191604
|
|
|
NM_001164277.2(SLC37A4):c.226G>C (p.Ala76Pro)
|
rs948802122
|
|
|
NM_001164277.2(SLC37A4):c.227C>T (p.Ala76Val)
|
rs782429783
|
|
|
NM_001164277.2(SLC37A4):c.229C>A (p.Arg77Ser)
|
rs1417623185
|
|
|
NM_001164277.2(SLC37A4):c.229C>G (p.Arg77Gly)
|
|
|
|
NM_001164277.2(SLC37A4):c.229C>T (p.Arg77Cys)
|
|
|
|
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His)
|
rs370839177
|
|
|
NM_001164277.2(SLC37A4):c.232T>C (p.Trp78Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.252G>T (p.Leu84=)
|
|
|
|
NM_001164277.2(SLC37A4):c.274A>G (p.Ile92Val)
|
rs1280285676
|
|
|
NM_001164277.2(SLC37A4):c.28C>G (p.Arg10Gly)
|
rs546577012
|
|
|
NM_001164277.2(SLC37A4):c.301C>G (p.Pro101Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.309T>G (p.Phe103Leu)
|
rs1171686379
|
|
|
NM_001164277.2(SLC37A4):c.31A>C (p.Thr11Pro)
|
rs1399227780
|
|
|
NM_001164277.2(SLC37A4):c.332G>A (p.Gly111Asp)
|
rs1356550790
|
|
|
NM_001164277.2(SLC37A4):c.337G>A (p.Ala113Thr)
|
|
|
|
NM_001164277.2(SLC37A4):c.347T>C (p.Leu116Pro)
|
|
|
|
NM_001164277.2(SLC37A4):c.349G>A (p.Gly117Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.355C>T (p.Pro119Ser)
|
rs1158229491
|
|
|
NM_001164277.2(SLC37A4):c.356C>G (p.Pro119Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.358C>T (p.Pro120Ser)
|
rs1045954164
|
|
|
NM_001164277.2(SLC37A4):c.364G>A (p.Gly122Arg)
|
rs1254956942
|
|
|
NM_001164277.2(SLC37A4):c.369G>T (p.Lys123Asn)
|
|
|
|
NM_001164277.2(SLC37A4):c.381+5G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.381G>A (p.Lys127=)
|
rs1315203966
|
|
|
NM_001164277.2(SLC37A4):c.38T>A (p.Ile13Asn)
|
|
|
|
NM_001164277.2(SLC37A4):c.390G>C (p.Glu130Asp)
|
rs752687782
|
|
|
NM_001164277.2(SLC37A4):c.399G>T (p.Gln133His)
|
rs767772187
|
|
|
NM_001164277.2(SLC37A4):c.412T>C (p.Trp138Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.420C>G (p.Ile140Met)
|
rs2134638252
|
|
|
NM_001164277.2(SLC37A4):c.473T>C (p.Ile158Thr)
|
|
|
|
NM_001164277.2(SLC37A4):c.492C>A (p.Ser164Arg)
|
rs369399624
|
|
|
NM_001164277.2(SLC37A4):c.497GCA[3] (p.Ser167dup)
|
rs2134637839
|
|
|
NM_001164277.2(SLC37A4):c.520G>A (p.Ala174Thr)
|
rs1432294427
|
|
|
NM_001164277.2(SLC37A4):c.523C>G (p.Leu175Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.53T>C (p.Phe18Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)
|
rs538938823
|
|
|
NM_001164277.2(SLC37A4):c.557T>A (p.Leu186His)
|
rs1943614259
|
|
|
NM_001164277.2(SLC37A4):c.560T>C (p.Ile187Thr)
|
rs1452797070
|
|
|
NM_001164277.2(SLC37A4):c.577G>A (p.Asp193Asn)
|
|
|
|
NM_001164277.2(SLC37A4):c.581T>C (p.Val194Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.589C>T (p.Arg197Cys)
|
|
|
|
NM_001164277.2(SLC37A4):c.58G>T (p.Gly20Cys)
|
rs2134644210
|
|
|
NM_001164277.2(SLC37A4):c.593A>G (p.Asn198Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.596T>G (p.Leu199Arg)
|
rs2134637316
|
|
|
NM_001164277.2(SLC37A4):c.598G>T (p.Asp200Tyr)
|
|
|
|
NM_001164277.2(SLC37A4):c.59G>C (p.Gly20Ala)
|
rs193302881
|
|
|
NM_001164277.2(SLC37A4):c.600C>G (p.Asp200Glu)
|
rs1565689207
|
|
|
NM_001164277.2(SLC37A4):c.606G>A (p.Met202Ile)
|
rs764654621
|
|
|
NM_001164277.2(SLC37A4):c.607C>A (p.Pro203Thr)
|
rs534894133
|
|
|
NM_001164277.2(SLC37A4):c.613G>A (p.Glu205Lys)
|
|
|
|
NM_001164277.2(SLC37A4):c.615G>C (p.Glu205Asp)
|
|
|
|
NM_001164277.2(SLC37A4):c.61T>C (p.Tyr21His)
|
rs1943676569
|
|
|
NM_001164277.2(SLC37A4):c.623A>G (p.Lys208Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.626+5G>A
|
rs1943610138
|
|
|
NM_001164277.2(SLC37A4):c.626+6C>T
|
rs762685017
|
|
|
NM_001164277.2(SLC37A4):c.634_636del (p.Lys212del)
|
rs782141145
|
|
|
NM_001164277.2(SLC37A4):c.653A>G (p.Gln218Arg)
|
rs782005026
|
|
|
NM_001164277.2(SLC37A4):c.66C>G (p.Ser22Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.692C>T (p.Thr231Ile)
|
|
|
|
NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu)
|
rs1295327218
|
|
|
NM_001164277.2(SLC37A4):c.724T>G (p.Cys242Gly)
|
|
|
|
NM_001164277.2(SLC37A4):c.728G>A (p.Cys243Tyr)
|
rs1555191076
|
|
|
NM_001164277.2(SLC37A4):c.740G>A (p.Gly247Asp)
|
rs1345697523
|
|
|
NM_001164277.2(SLC37A4):c.743A>G (p.Gln248Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.744G>T (p.Gln248His)
|
|
|
|
NM_001164277.2(SLC37A4):c.751C>G (p.Leu251Val)
|
rs2134634814
|
|
|
NM_001164277.2(SLC37A4):c.770A>G (p.Gln257Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.780_781insTCTTACCTT (p.Leu260_Val261insSerTyrLeu)
|
rs1565688245
|
|
|
NM_001164277.2(SLC37A4):c.785G>C (p.Gly262Ala)
|
rs782692832
|
|
|
NM_001164277.2(SLC37A4):c.793T>C (p.Tyr265His)
|
|
|
|
NM_001164277.2(SLC37A4):c.796A>G (p.Met266Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.824T>G (p.Val275Gly)
|
rs2134633732
|
|
|
NM_001164277.2(SLC37A4):c.827G>C (p.Gly276Ala)
|
rs1350014866
|
|
|
NM_001164277.2(SLC37A4):c.83G>T (p.Arg28Leu)
|
|
|
|
NM_001164277.2(SLC37A4):c.85A>G (p.Lys29Glu)
|
rs1943675245
|
|
|
NM_001164277.2(SLC37A4):c.872C>G (p.Ala291Gly)
|
rs200147602
|
|
|
NM_001164277.2(SLC37A4):c.87G>T (p.Lys29Asn)
|
|
|
|
NM_001164277.2(SLC37A4):c.886_888delinsCAA (p.Tyr296Gln)
|
rs1943560243
|
|
|
NM_001164277.2(SLC37A4):c.894C>A (p.Asn298Lys)
|
|
|
|
NM_001164277.2(SLC37A4):c.89C>T (p.Thr30Ile)
|
|
|
|
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp)
|
rs539911116
|
|
|
NM_001164277.2(SLC37A4):c.901C>T (p.His301Tyr)
|
|
|
|
NM_001164277.2(SLC37A4):c.919A>G (p.Met307Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)
|
rs786204477
|
|
|
NM_001164277.2(SLC37A4):c.928G>A (p.Gly310Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del)
|
rs1432360280
|
|
|
NM_001164277.2(SLC37A4):c.944T>G (p.Met315Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.949C>G (p.Leu317Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.956G>C (p.Arg319Pro)
|
rs782703235
|
|
|
NM_001164277.2(SLC37A4):c.956G>T (p.Arg319Leu)
|
|
|
|
NM_001164277.2(SLC37A4):c.961A>T (p.Thr321Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr)
|
rs1943553852
|
|
|
NM_001164277.2(SLC37A4):c.979C>T (p.Pro327Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.984G>A (p.Lys328=)
|
|
|
|
NM_001243177.4(ALDOA):c.1033C>A (p.Pro345Thr)
|
|
|
|
NM_001243177.4(ALDOA):c.1124T>C (p.Leu375Pro)
|
|
|
|
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
|
|
|
|
NM_001243177.4(ALDOA):c.1154G>A (p.Arg385Gln)
|
|
|
|
NM_001243177.4(ALDOA):c.1169G>C (p.Ser390Thr)
|
|
|
|
NM_001243177.4(ALDOA):c.1186A>G (p.Lys396Glu)
|
|
|
|
NM_001243177.4(ALDOA):c.1208C>G (p.Ala403Gly)
|
rs1261199026
|
|
|
NM_001243177.4(ALDOA):c.1250C>T (p.Ala417Val)
|
|
|
|
NM_001243177.4(ALDOA):c.174A>G (p.Gln58=)
|
rs2072147536
|
|
|
NM_001243177.4(ALDOA):c.181G>A (p.Ala61Thr)
|
|
|
|
NM_001243177.4(ALDOA):c.220G>A (p.Ala74Thr)
|
|
|
|
NM_001243177.4(ALDOA):c.239C>T (p.Pro80Leu)
|
|
|
|
NM_001243177.4(ALDOA):c.273T>G (p.Thr91=)
|
rs2151015694
|
|
|
NM_001243177.4(ALDOA):c.289C>T (p.Arg97Trp)
|
|
|
|
NM_001243177.4(ALDOA):c.290G>A (p.Arg97Gln)
|
rs549146709
|
|
|
NM_001243177.4(ALDOA):c.290G>C (p.Arg97Pro)
|
|
|
|
NM_001243177.4(ALDOA):c.299C>T (p.Ser100Phe)
|
|
|
|
NM_001243177.4(ALDOA):c.302T>C (p.Ile101Thr)
|
|
|
|
NM_001243177.4(ALDOA):c.316A>G (p.Thr106Ala)
|
|
|
|
NM_001243177.4(ALDOA):c.317C>T (p.Thr106Ile)
|
|
|
|
NM_001243177.4(ALDOA):c.330_331delinsCT (p.Arg111Cys)
|
|
|
|
NM_001243177.4(ALDOA):c.357_359del (p.Ala120del)
|
|
|
|
NM_001243177.4(ALDOA):c.368G>A (p.Arg123His)
|
|
|
|
NM_001243177.4(ALDOA):c.400T>C (p.Phe134Leu)
|
rs2151016133
|
|
|
NM_001243177.4(ALDOA):c.425C>T (p.Ala142Val)
|
|
|
|
NM_001243177.4(ALDOA):c.466G>T (p.Gly156Cys)
|
|
|
|
NM_001243177.4(ALDOA):c.469G>A (p.Gly157Ser)
|
|
|
|
NM_001243177.4(ALDOA):c.472G>A (p.Val158Ile)
|
rs2072169825
|
|
|
NM_001243177.4(ALDOA):c.499G>A (p.Val167Met)
|
|
|
|
NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser)
|
|
|
|
NM_001243177.4(ALDOA):c.515G>A (p.Gly172Glu)
|
|
|
|
NM_001243177.4(ALDOA):c.524G>A (p.Gly175Asp)
|
|
|
|
NM_001243177.4(ALDOA):c.562C>T (p.Arg188Cys)
|
|
|
|
NM_001243177.4(ALDOA):c.590C>A (p.Ala197Asp)
|
|
|
|
NM_001243177.4(ALDOA):c.613G>T (p.Val205Leu)
|
|
|
|
NM_001243177.4(ALDOA):c.649G>A (p.Ala217Thr)
|
|
|
|
NM_001243177.4(ALDOA):c.698A>T (p.Gln233Leu)
|
rs2151018036
|
|
|
NM_001243177.4(ALDOA):c.721G>A (p.Val241Met)
|
|
|
|
NM_001243177.4(ALDOA):c.733A>G (p.Ile245Val)
|
|
|
|
NM_001243177.4(ALDOA):c.763C>T (p.Arg255Cys)
|
|
|
|
NM_001243177.4(ALDOA):c.797C>T (p.Ala266Val)
|
|
|
|
NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu)
|
|
|
|
NM_001243177.4(ALDOA):c.803A>G (p.Tyr268Cys)
|
|
|
|
NM_001243177.4(ALDOA):c.861G>A (p.Met287Ile)
|
|
|
|
NM_001243177.4(ALDOA):c.876T>G (p.His292Gln)
|
|
|
|
NM_001243177.4(ALDOA):c.884C>T (p.Thr295Ile)
|
|
|
|
NM_001243177.4(ALDOA):c.922G>C (p.Val308Leu)
|
|
|
|
NM_001243177.4(ALDOA):c.934C>T (p.Arg312Cys)
|
|
|
|
NM_001243177.4(ALDOA):c.935G>A (p.Arg312His)
|
|
|
|
NM_001243177.4(ALDOA):c.951del (p.Ala318fs)
|
|
|
|
NM_001352514.2(HLCS):c.1003G>A (p.Asp335Asn)
|
|
|
|
NM_001352514.2(HLCS):c.1030C>T (p.Leu344Phe)
|
|
|
|
NM_001352514.2(HLCS):c.1058T>C (p.Leu353Pro)
|
|
|
|
NM_001352514.2(HLCS):c.1081T>C (p.Cys361Arg)
|
|
|
|
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe)
|
rs1569216588
|
|
|
NM_001352514.2(HLCS):c.1102A>C (p.Thr368Pro)
|
|
|
|
NM_001352514.2(HLCS):c.1123G>C (p.Asp375His)
|
|
|
|
NM_001352514.2(HLCS):c.1132C>G (p.Gln378Glu)
|
|
|
|
NM_001352514.2(HLCS):c.1150C>A (p.Leu384Ile)
|
rs538157231
|
|
|
NM_001352514.2(HLCS):c.1233C>A (p.His411Gln)
|
rs1601802008
|
|
|
NM_001352514.2(HLCS):c.1264G>A (p.Ala422Thr)
|
|
|
|
NM_001352514.2(HLCS):c.1276G>A (p.Glu426Lys)
|
|
|
|
NM_001352514.2(HLCS):c.1295T>C (p.Leu432Ser)
|
|
|
|
NM_001352514.2(HLCS):c.1312T>C (p.Tyr438His)
|
|
|
|
NM_001352514.2(HLCS):c.1324C>G (p.Pro442Ala)
|
|
|
|
NM_001352514.2(HLCS):c.1342G>C (p.Gly448Arg)
|
|
|
|
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg)
|
rs748444836
|
|
|
NM_001352514.2(HLCS):c.1414G>T (p.Gly472Trp)
|
|
|
|
NM_001352514.2(HLCS):c.1436A>G (p.Gln479Arg)
|
rs899013389
|
|
|
NM_001352514.2(HLCS):c.1438G>T (p.Val480Leu)
|
|
|
|
NM_001352514.2(HLCS):c.1535G>C (p.Arg512Thr)
|
|
|
|
NM_001352514.2(HLCS):c.1612G>A (p.Ala538Thr)
|
|
|
|
NM_001352514.2(HLCS):c.1631A>T (p.Asp544Val)
|
|
|
|
NM_001352514.2(HLCS):c.1658A>G (p.His553Arg)
|
rs2146336242
|
|
|
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr)
|
rs770873445
|
|
|
NM_001352514.2(HLCS):c.1697C>G (p.Ser566Cys)
|
|
|
|
NM_001352514.2(HLCS):c.1741C>T (p.Pro581Ser)
|
|
|
|
NM_001352514.2(HLCS):c.1774G>A (p.Ala592Thr)
|
rs987805504
|
|
|
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)
|
rs767190021
|
|
|
NM_001352514.2(HLCS):c.1879C>T (p.Arg627Cys)
|
|
|
|
NM_001352514.2(HLCS):c.1880G>A (p.Arg627His)
|
|
|
|
NM_001352514.2(HLCS):c.1909C>T (p.Pro637Ser)
|
rs2145777265
|
|
|
NM_001352514.2(HLCS):c.1920G>A (p.Met640Ile)
|
rs2145777174
|
|
|
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val)
|
rs1173267062
|
|
|
NM_001352514.2(HLCS):c.1936G>A (p.Ala646Thr)
|
|
|
|
NM_001352514.2(HLCS):c.1937C>T (p.Ala646Val)
|
|
|
|
NM_001352514.2(HLCS):c.1942C>T (p.Arg648Trp)
|
|
|
|
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg)
|
rs1555885056
|
|
|
NM_001352514.2(HLCS):c.1967G>A (p.Gly656Glu)
|
|
|
|
NM_001352514.2(HLCS):c.1970G>C (p.Gly657Ala)
|
|
|
|
NM_001352514.2(HLCS):c.2057C>T (p.Pro686Leu)
|
|
|
|
NM_001352514.2(HLCS):c.2080G>A (p.Val694Met)
|
|
|
|
NM_001352514.2(HLCS):c.2087T>C (p.Val696Ala)
|
|
|
|
NM_001352514.2(HLCS):c.2203A>G (p.Thr735Ala)
|
rs2089755704
|
|
|
NM_001352514.2(HLCS):c.2210T>C (p.Met737Thr)
|
|
|
|
NM_001352514.2(HLCS):c.2215G>A (p.Glu739Lys)
|
|
|
|
NM_001352514.2(HLCS):c.2230C>T (p.Leu744Phe)
|
|
|
|
NM_001352514.2(HLCS):c.2246T>G (p.Phe749Cys)
|
|
|
|
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met)
|
rs1555882115
|
|
|
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg)
|
rs1601100788
|
|
|
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)
|
rs1555882090
|
|
|
NM_001352514.2(HLCS):c.2291T>A (p.Ile764Asn)
|
rs2145731806
|
|
|
NM_001352514.2(HLCS):c.2330C>T (p.Pro777Leu)
|
|
|
|
NM_001352514.2(HLCS):c.2347C>G (p.Leu783Val)
|
|
|
|
NM_001352514.2(HLCS):c.2360T>C (p.Val787Ala)
|
|
|
|
NM_001352514.2(HLCS):c.2368G>A (p.Val790Met)
|
|
|
|
NM_001352514.2(HLCS):c.2413A>G (p.Ser805Gly)
|
rs755620019
|
|
|
NM_001352514.2(HLCS):c.2450+1_2450+2del
|
rs2089602804
|
|
|
NM_001352514.2(HLCS):c.2450+4A>G
|
|
|
|
NM_001352514.2(HLCS):c.2460A>C (p.Gln820His)
|
|
|
|
NM_001352514.2(HLCS):c.2476G>T (p.Ala826Ser)
|
rs376898721
|
|
|
NM_001352514.2(HLCS):c.2495C>T (p.Ser832Phe)
|
|
|
|
NM_001352514.2(HLCS):c.2501T>C (p.Val834Ala)
|
rs2123556320
|
|
|
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup)
|
rs773191073
|
|
|
NM_001352514.2(HLCS):c.2551G>A (p.Val851Ile)
|
|
|
|
NM_001352514.2(HLCS):c.2572G>A (p.Gly858Ser)
|
|
|
|
NM_001352514.2(HLCS):c.2581T>G (p.Phe861Val)
|
|
|
|
NM_001352514.2(HLCS):c.2605C>T (p.Leu869Phe)
|
|
|
|
NM_001352514.2(HLCS):c.2614C>T (p.Arg872Trp)
|
|
|
|
NM_001352514.2(HLCS):c.2618G>A (p.Arg873Gln)
|
|
|
|
NM_001352514.2(HLCS):c.449A>G (p.Asp150Gly)
|
rs761490181
|
|
|
NM_001352514.2(HLCS):c.458A>G (p.His153Arg)
|
|
|
|
NM_001352514.2(HLCS):c.460A>G (p.Met154Val)
|
|
|
|
NM_001352514.2(HLCS):c.463G>A (p.Asp155Asn)
|
|
|
|
NM_001352514.2(HLCS):c.481C>G (p.Gln161Glu)
|
|
|
|
NM_001352514.2(HLCS):c.485A>C (p.Lys162Thr)
|
|
|
|
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met)
|
rs886057079
|
|
|
NM_001352514.2(HLCS):c.491T>C (p.Val164Ala)
|
rs2146535803
|
|
|
NM_001352514.2(HLCS):c.495G>A (p.Ser165=)
|
rs1254077652
|
|
|
NM_001352514.2(HLCS):c.497T>C (p.Val166Ala)
|
|
|
|
NM_001352514.2(HLCS):c.503T>G (p.Leu168Trp)
|
|
|
|
NM_001352514.2(HLCS):c.504G>T (p.Leu168Phe)
|
|
|
|
NM_001352514.2(HLCS):c.526G>C (p.Val176Leu)
|
|
|
|
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu)
|
rs565756796
|
|
|
NM_001352514.2(HLCS):c.586C>T (p.Leu196Phe)
|
|
|
|
NM_001352514.2(HLCS):c.599C>T (p.Pro200Leu)
|
|
|
|
NM_001352514.2(HLCS):c.809C>T (p.Ala270Val)
|
|
|
|
NM_001352514.2(HLCS):c.832C>T (p.Leu278Phe)
|
|
|
|
NM_001352514.2(HLCS):c.853A>G (p.Ser285Gly)
|
|
|
|
NM_001352514.2(HLCS):c.908A>T (p.Asn303Ile)
|
rs912685138
|
|
|
NM_001352514.2(HLCS):c.909C>A (p.Asn303Lys)
|
|
|
|
NM_001352514.2(HLCS):c.919A>G (p.Lys307Glu)
|
|
|
|
NM_001352514.2(HLCS):c.946G>T (p.Gly316Cys)
|
|
|
|
NM_001352514.2(HLCS):c.952G>A (p.Asp318Asn)
|
|
|
|
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)
|
rs368754318
|
|
|
NM_001360016.2(G6PD):c.1016C>T (p.Ala339Val)
|
|
|
|
NM_001360016.2(G6PD):c.1072T>G (p.Cys358Gly)
|
|
|
|
NM_001360016.2(G6PD):c.1104G>C (p.Glu368Asp)
|
rs1421656710
|
|
|
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
|
|
|
|
NM_001360016.2(G6PD):c.1146C>G (p.His382Gln)
|
|
|
|
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu)
|
rs1557229683
|
|
|
NM_001360016.2(G6PD):c.1243C>T (p.Pro415Ser)
|
rs1603411292
|
|
|
NM_001360016.2(G6PD):c.1277A>G (p.Asn426Ser)
|
|
|
|
NM_001360016.2(G6PD):c.1278C>G (p.Asn426Lys)
|
rs1557229652
|
|
|
NM_001360016.2(G6PD):c.1365C>T (p.Ser455=)
|
|
|
|
NM_001360016.2(G6PD):c.1396A>G (p.Thr466Ala)
|
|
|
|
NM_001360016.2(G6PD):c.1412A>C (p.Gln471Pro)
|
|
|
|
NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val)
|
rs2148328385
|
|
|
NM_001360016.2(G6PD):c.1441C>T (p.Pro481Ser)
|
|
|
|
NM_001360016.2(G6PD):c.1457+37_1458-10dup
|
|
|
|
NM_001360016.2(G6PD):c.1496T>A (p.Val499Glu)
|
|
|
|
NM_001360016.2(G6PD):c.1517C>G (p.Thr506Ser)
|
|
|
|
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile)
|
rs2148332084
|
|
|
NM_001360016.2(G6PD):c.159-3C>T
|
|
|
|
NM_001360016.2(G6PD):c.169C>T (p.Arg57Trp)
|
|
|
|
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala)
|
rs199474830
|
|
|
NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile)
|
rs2070404146
|
|
|
NM_001360016.2(G6PD):c.221G>A (p.Arg74His)
|
|
|
|
NM_001360016.2(G6PD):c.227C>T (p.Thr76Ile)
|
rs2148331887
|
|
|
NM_001360016.2(G6PD):c.255G>A (p.Glu85=)
|
|
|
|
NM_001360016.2(G6PD):c.261C>T (p.Phe87=)
|
|
|
|
NM_001360016.2(G6PD):c.26G>A (p.Arg9Gln)
|
|
|
|
NM_001360016.2(G6PD):c.277G>A (p.Glu93Lys)
|
|
|
|
NM_001360016.2(G6PD):c.310C>T (p.Arg104Cys)
|
|
|
|
NM_001360016.2(G6PD):c.314A>C (p.Asn105Thr)
|
|
|
|
NM_001360016.2(G6PD):c.317C>T (p.Ser106Phe)
|
|
|
|
NM_001360016.2(G6PD):c.332A>G (p.Gln111Arg)
|
|
|
|
NM_001360016.2(G6PD):c.346G>C (p.Ala116Pro)
|
|
|
|
NM_001360016.2(G6PD):c.347C>T (p.Ala116Val)
|
|
|
|
NM_001360016.2(G6PD):c.34G>A (p.Val12Met)
|
|
|
|
NM_001360016.2(G6PD):c.359G>T (p.Arg120Leu)
|
rs782820967
|
|
|
NM_001360016.2(G6PD):c.41G>T (p.Gly14Val)
|
|
|
|
NM_001360016.2(G6PD):c.424T>G (p.Leu142Val)
|
|
|
|
NM_001360016.2(G6PD):c.433A>T (p.Thr145Ser)
|
|
|
|
NM_001360016.2(G6PD):c.445G>A (p.Ala149Thr)
|
|
|
|
NM_001360016.2(G6PD):c.485+3A>G
|
|
|
|
NM_001360016.2(G6PD):c.486-10C>T
|
|
|
|
NM_001360016.2(G6PD):c.505G>A (p.Val169Met)
|
|
|
|
NM_001360016.2(G6PD):c.545G>A (p.Arg182Gln)
|
|
|
|
NM_001360016.2(G6PD):c.554A>G (p.Asn185Ser)
|
|
|
|
NM_001360016.2(G6PD):c.559A>G (p.Ile187Val)
|
|
|
|
NM_001360016.2(G6PD):c.575G>A (p.Arg192His)
|
|
|
|
NM_001360016.2(G6PD):c.584A>G (p.Gln195Arg)
|
|
|
|
NM_001360016.2(G6PD):c.644+6G>A
|
|
|
|
NM_001360016.2(G6PD):c.645-3C>T
|
|
|
|
NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu)
|
rs1557233192
|
|
|
NM_001360016.2(G6PD):c.73G>A (p.Ala25Thr)
|
|
|
|
NM_001360016.2(G6PD):c.73G>T (p.Ala25Ser)
|
|
|
|
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly)
|
rs2070375134
|
|
|
NM_001360016.2(G6PD):c.77T>C (p.Phe26Ser)
|
|
|
|
NM_001360016.2(G6PD):c.79C>T (p.His27Tyr)
|
|
|
|
NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser)
|
rs1557230050
|
|
|
NM_001360016.2(G6PD):c.84G>T (p.Gln28His)
|
|
|
|
NM_001360016.2(G6PD):c.859G>A (p.Glu287Lys)
|
rs387906471
|
|
|
NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn)
|
|
|
|
NM_001360016.2(G6PD):c.937G>A (p.Asp313Asn)
|
|
|
|
NM_001360016.2(G6PD):c.945G>C (p.Glu315Asp)
|
rs2148329357
|
|
|
NM_001360016.2(G6PD):c.947G>A (p.Gly316Asp)
|
|
|
|
NM_001360016.2(G6PD):c.971A>G (p.Asp324Gly)
|
|
|
|
NM_001360016.2(G6PD):c.989G>A (p.Arg330His)
|
|
|
|
NM_001363700.2(LIAS):c.299+1682_299+1690del
|
rs776064587
|
|
|
NM_001365304.2(LOC112694756):c.*1049+3G>A
|
rs2072219927
|
|
|
NM_001365304.2(LOC112694756):c.*1309-2dup
|
|
|
|
NM_001365304.2(LOC112694756):c.*622-9C>G
|
|
|
|
NM_001365304.2(LOC112694756):c.*889-3T>C
|
|
|
|
NM_001370658.1(BTD):c.-16-2A>G
|
|
|
|
NM_001370658.1(BTD):c.-17+19_-17+39del
|
rs1559571027
|
|
|
NM_001370658.1(BTD):c.-18A>G
|
|
|
|
NM_001370658.1(BTD):c.-51G>T
|
|
|
|
NM_001370658.1(BTD):c.1001C>T (p.Thr334Met)
|
|
|
|
NM_001370658.1(BTD):c.1068G>C (p.Gln356His)
|
|
|
|
NM_001370658.1(BTD):c.1076A>G (p.His359Arg)
|
rs763540316
|
|
|
NM_001370658.1(BTD):c.1102G>A (p.Val368Met)
|
|
|
|
NM_001370658.1(BTD):c.1116_1118del (p.Thr373del)
|
rs2065654912
|
|
|
NM_001370658.1(BTD):c.113A>G (p.Tyr38Cys)
|
|
|
|
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)
|
rs374141881
|
|
|
NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg)
|
|
|
|
NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu)
|
rs2125504798
|
|
|
NM_001370658.1(BTD):c.1199A>G (p.Asn400Ser)
|
|
|
|
NM_001370658.1(BTD):c.1205T>C (p.Leu402Pro)
|
rs2125504955
|
|
|
NM_001370658.1(BTD):c.1226A>C (p.Glu409Ala)
|
rs2125505114
|
|
|
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile)
|
rs776369447
|
|
|
NM_001370658.1(BTD):c.1268T>A (p.Phe423Tyr)
|
|
|
|
NM_001370658.1(BTD):c.1286T>C (p.Val429Ala)
|
rs2065663213
|
|
|
NM_001370658.1(BTD):c.1289A>C (p.His430Pro)
|
rs559136372
|
|
|
NM_001370658.1(BTD):c.1298A>C (p.Tyr433Ser)
|
rs2125505641
|
|
|
NM_001370658.1(BTD):c.1325G>A (p.Arg442Lys)
|
rs2125505856
|
|
|
NM_001370658.1(BTD):c.1346A>G (p.Asp449Gly)
|
|
|
|
NM_001370658.1(BTD):c.1376C>T (p.Thr459Met)
|
|
|
|
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)
|
rs750598655
|
|
|
NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile)
|
rs774018881
|
|
|
NM_001370658.1(BTD):c.1468G>A (p.Asp490Asn)
|
|
|
|
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)
|
rs199859507
|
|
|
NM_001370658.1(BTD):c.14G>T (p.Arg5Ile)
|
|
|
|
NM_001370658.1(BTD):c.1522T>C (p.Ser508Pro)
|
|
|
|
NM_001370658.1(BTD):c.1538C>T (p.Ala513Val)
|
|
|
|
NM_001370658.1(BTD):c.179A>C (p.Gln60Pro)
|
rs2065326975
|
|
|
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)
|
rs397514346
|
|
|
NM_001370658.1(BTD):c.249+5G>T
|
rs2065329555
|
|
|
NM_001370658.1(BTD):c.251A>G (p.Asp84Gly)
|
|
|
|
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)
|
rs1553653070
|
|
|
NM_001370658.1(BTD):c.286C>T (p.His96Tyr)
|
rs776422082
|
|
|
NM_001370658.1(BTD):c.33C>A (p.Phe11Leu)
|
|
|
|
NM_001370658.1(BTD):c.340T>C (p.Ser114Pro)
|
|
|
|
NM_001370658.1(BTD):c.347A>G (p.Gln116Arg)
|
|
|
|
NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe)
|
|
|
|
NM_001370658.1(BTD):c.369C>G (p.Cys123Trp)
|
|
|
|
NM_001370658.1(BTD):c.373G>C (p.Glu125Gln)
|
|
|
|
NM_001370658.1(BTD):c.382C>G (p.Arg128Gly)
|
rs137877018
|
|
|
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)
|
rs144717999
|
|
|
NM_001370658.1(BTD):c.423G>A (p.Met141Ile)
|
|
|
|
NM_001370658.1(BTD):c.444C>A (p.Phe148Leu)
|
rs184742694
|
|
|
NM_001370658.1(BTD):c.449T>C (p.Val150Ala)
|
|
|
|
NM_001370658.1(BTD):c.490C>T (p.Pro164Ser)
|
|
|
|
NM_001370658.1(BTD):c.494G>A (p.Arg165Lys)
|
|
|
|
NM_001370658.1(BTD):c.506A>G (p.Asp169Gly)
|
rs139829181
|
|
|
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
|
|
|
|
NM_001370658.1(BTD):c.719A>C (p.Asp240Ala)
|
|
|
|
NM_001370658.1(BTD):c.727G>T (p.Val243Leu)
|
|
|
|
NM_001370658.1(BTD):c.737T>A (p.Val246Asp)
|
|
|
|
NM_001370658.1(BTD):c.750_752delinsCTA (p.Ala251Tyr)
|
|
|
|
NM_001370658.1(BTD):c.765G>C (p.Gln255His)
|
|
|
|
NM_001370658.1(BTD):c.784A>T (p.Ile262Phe)
|
rs549204682
|
|
|
NM_001370658.1(BTD):c.795G>C (p.Gln265His)
|
rs1553653855
|
|
|
NM_001370658.1(BTD):c.817G>A (p.Gly273Ser)
|
rs762757117
|
|
|
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg)
|
rs762757117
|
|
|
NM_001370658.1(BTD):c.825C>A (p.Asn275Lys)
|
|
|
|
NM_001370658.1(BTD):c.826G>A (p.Val276Ile)
|
|
|
|
NM_001370658.1(BTD):c.844C>T (p.His282Tyr)
|
rs398123142
|
|
|
NM_001370658.1(BTD):c.846C>G (p.His282Gln)
|
rs2125502649
|
|
|
NM_001370658.1(BTD):c.928A>C (p.Ser310Arg)
|
|
|
|
NM_001370658.1(BTD):c.941T>A (p.Ile314Asn)
|
rs397514433
|
|
|
NM_001370658.1(BTD):c.962C>T (p.Pro321Leu)
|
|
|
|
NM_001370658.1(BTD):c.965T>C (p.Val322Ala)
|
|
|
|
NM_001370658.1(BTD):c.968G>T (p.Gly323Val)
|
|
|
|
NM_001370658.1(BTD):c.982G>A (p.Glu328Lys)
|
|
|
|
NM_001739.2(CA5A):c.149C>A (p.Pro50Gln)
|
|
|
|
NM_001739.2(CA5A):c.185C>T (p.Thr62Ile)
|
|
|
|
NM_001739.2(CA5A):c.187C>T (p.Arg63Trp)
|
|
|
|
NM_001739.2(CA5A):c.283A>G (p.Ile95Val)
|
|
|
|
NM_001739.2(CA5A):c.298T>A (p.Tyr100Asn)
|
rs1295048155
|
|
|
NM_001739.2(CA5A):c.322G>A (p.Asp108Asn)
|
|
|
|
NM_001739.2(CA5A):c.376C>G (p.Leu126Val)
|
rs2143963929
|
|
|
NM_001739.2(CA5A):c.387T>G (p.Phe129Leu)
|
|
|
|
NM_001739.2(CA5A):c.404C>T (p.Ala135Val)
|
|
|
|
NM_001739.2(CA5A):c.497A>G (p.Asn166Ser)
|
|
|
|
NM_001739.2(CA5A):c.508G>T (p.Ala170Ser)
|
|
|
|
NM_001739.2(CA5A):c.512T>C (p.Val171Ala)
|
rs2143950598
|
|
|
NM_001739.2(CA5A):c.514G>A (p.Val172Met)
|
|
|
|
NM_001739.2(CA5A):c.514G>T (p.Val172Leu)
|
rs142182110
|
|
|
NM_001739.2(CA5A):c.523A>G (p.Asn175Asp)
|
|
|
|
NM_001739.2(CA5A):c.556C>G (p.Leu186Val)
|
rs375321548
|
|
|
NM_001739.2(CA5A):c.595A>T (p.Ile199Phe)
|
rs769123644
|
|
|
NM_001739.2(CA5A):c.601C>A (p.Pro201Thr)
|
|
|
|
NM_001739.2(CA5A):c.636G>A (p.Met212Ile)
|
|
|
|
NM_001739.2(CA5A):c.643T>A (p.Phe215Ile)
|
|
|
|
NM_001739.2(CA5A):c.646G>A (p.Asp216Asn)
|
rs370816330
|
|
|
NM_001739.2(CA5A):c.647A>C (p.Asp216Ala)
|
|
|
|
NM_001739.2(CA5A):c.664C>T (p.Pro222Ser)
|
|
|
|
NM_001739.2(CA5A):c.676G>A (p.Asp226Asn)
|
rs1280675833
|
|
|
NM_001739.2(CA5A):c.710C>T (p.Pro237Leu)
|
|
|
|
NM_001739.2(CA5A):c.734G>A (p.Trp245Ter)
|
|
|
|
NM_001739.2(CA5A):c.744G>T (p.Gln248His)
|
rs1240080247
|
|
|
NM_001739.2(CA5A):c.767_774+13del
|
rs762768981
|
|
|
NM_001739.2(CA5A):c.774G>C (p.Gln258His)
|
|
|
|
NM_001739.2(CA5A):c.77G>A (p.Arg26His)
|
|
|
|
NM_001739.2(CA5A):c.782C>T (p.Ala261Val)
|
|
|
|
NM_001739.2(CA5A):c.787C>T (p.Arg263Cys)
|
|
|
|
NM_001739.2(CA5A):c.847_848delinsGA (p.Pro283Glu)
|
rs2143888447
|
|
|
NM_001739.2(CA5A):c.868C>T (p.Arg290Trp)
|
|
|
|
NM_001739.2(CA5A):c.89C>G (p.Pro30Arg)
|
rs533233634
|
|
|
NM_001739.2(CA5A):c.917A>G (p.Ter306Trp)
|
|
|
|
NM_001931.5(DLAT):c.1040C>G (p.Thr347Ser)
|
rs982032675
|
|
|
NM_001931.5(DLAT):c.1130-6T>G
|
|
|
|
NM_001931.5(DLAT):c.1171_1172delinsAT (p.Ser391Ile)
|
|
|
|
NM_001931.5(DLAT):c.1253G>A (p.Gly418Asp)
|
|
|
|
NM_001931.5(DLAT):c.1290+5G>A
|
rs886047694
|
|
|
NM_001931.5(DLAT):c.1290G>A (p.Arg430=)
|
rs782283884
|
|
|
NM_001931.5(DLAT):c.1310T>G (p.Met437Arg)
|
rs1863289848
|
|
|
NM_001931.5(DLAT):c.1374G>T (p.Leu458Phe)
|
rs147264946
|
|
|
NM_001931.5(DLAT):c.1378G>T (p.Val460Leu)
|
|
|
|
NM_001931.5(DLAT):c.1384A>C (p.Lys462Gln)
|
rs1863296122
|
|
|
NM_001931.5(DLAT):c.146C>T (p.Thr49Ile)
|
|
|
|
NM_001931.5(DLAT):c.1501A>G (p.Thr501Ala)
|
|
|
|
NM_001931.5(DLAT):c.1514A>G (p.Gln505Arg)
|
rs1863619150
|
|
|
NM_001931.5(DLAT):c.1567A>G (p.Thr523Ala)
|
rs2135156193
|
|
|
NM_001931.5(DLAT):c.167G>C (p.Arg56Pro)
|
rs782260343
|
|
|
NM_001931.5(DLAT):c.169G>T (p.Ala57Ser)
|
|
|
|
NM_001931.5(DLAT):c.1703T>C (p.Leu568Ser)
|
rs1566642089
|
|
|
NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser)
|
rs782810132
|
|
|
NM_001931.5(DLAT):c.1771G>T (p.Gly591Cys)
|
|
|
|
NM_001931.5(DLAT):c.1784A>G (p.Asp595Gly)
|
|
|
|
NM_001931.5(DLAT):c.1806_1808dup (p.Asn602_Glu603insAsp)
|
rs1864595330
|
|
|
NM_001931.5(DLAT):c.1823T>A (p.Val608Glu)
|
|
|
|
NM_001931.5(DLAT):c.1867G>C (p.Val623Leu)
|
|
|
|
NM_001931.5(DLAT):c.188C>T (p.Pro63Leu)
|
|
|
|
NM_001931.5(DLAT):c.253T>C (p.Tyr85His)
|
rs782202863
|
|
|
NM_001931.5(DLAT):c.253T>G (p.Tyr85Asp)
|
|
|
|
NM_001931.5(DLAT):c.355A>G (p.Ile119Val)
|
rs1555179245
|
|
|
NM_001931.5(DLAT):c.436G>A (p.Ala146Thr)
|
rs1201600211
|
|
|
NM_001931.5(DLAT):c.478G>A (p.Gly160Arg)
|
|
|
|
NM_001931.5(DLAT):c.482C>T (p.Ala161Val)
|
|
|
|
NM_001931.5(DLAT):c.561_584dup (p.Pro197_Ala198insGlnAlaAlaProAlaProThrPro)
|
|
|
|
NM_001931.5(DLAT):c.563C>A (p.Thr188Asn)
|
|
|
|
NM_001931.5(DLAT):c.577C>G (p.Pro193Ala)
|
rs2137699929
|
|
|
NM_001931.5(DLAT):c.592G>A (p.Ala198Thr)
|
|
|
|
NM_001931.5(DLAT):c.605C>T (p.Ser202Leu)
|
|
|
|
NM_001931.5(DLAT):c.629C>T (p.Ala210Val)
|
|
|
|
NM_001931.5(DLAT):c.635G>A (p.Gly212Asp)
|
|
|
|
NM_001931.5(DLAT):c.856C>G (p.Leu286Val)
|
|
|
|
NM_001931.5(DLAT):c.887A>G (p.Lys296Arg)
|
rs2137753489
|
|
|
NM_001931.5(DLAT):c.895G>T (p.Asp299Tyr)
|
rs1862828399
|
|
|
NM_001931.5(DLAT):c.934A>G (p.Thr312Ala)
|
|
|
|
NM_001931.5(DLAT):c.960_971del (p.Thr322_Pro325del)
|
|
|
|
NM_001931.5(DLAT):c.975+4G>A
|
|
|
|
NM_001931.5(DLAT):c.982G>A (p.Ala328Thr)
|
rs1862931114
|
|
|
NM_001931.5(DLAT):c.98G>A (p.Arg33Gln)
|
rs2137674476
|
|
|
NM_002076.4(GNS):c.1008G>C (p.Leu336Phe)
|
|
|
|
NM_002076.4(GNS):c.1024C>G (p.Gln342Glu)
|
|
|
|
NM_002076.4(GNS):c.1048G>A (p.Val350Ile)
|
|
|
|
NM_002076.4(GNS):c.1064G>T (p.Arg355Leu)
|
rs751200375
|
|
|
NM_002076.4(GNS):c.1070C>T (p.Pro357Leu)
|
|
|
|
NM_002076.4(GNS):c.1078A>G (p.Lys360Glu)
|
|
|
|
NM_002076.4(GNS):c.1082C>T (p.Pro361Leu)
|
|
|
|
NM_002076.4(GNS):c.1091C>T (p.Thr364Ile)
|
|
|
|
NM_002076.4(GNS):c.1098+3A>G
|
|
|
|
NM_002076.4(GNS):c.109G>C (p.Val37Leu)
|
|
|
|
NM_002076.4(GNS):c.1105G>A (p.Val369Ile)
|
|
|
|
NM_002076.4(GNS):c.1114A>C (p.Ile372Leu)
|
rs2136240576
|
|
|
NM_002076.4(GNS):c.1120T>A (p.Leu374Met)
|
|
|
|
NM_002076.4(GNS):c.1127C>G (p.Pro376Arg)
|
|
|
|
NM_002076.4(GNS):c.1146T>A (p.Ala382=)
|
rs2136240550
|
|
|
NM_002076.4(GNS):c.115G>A (p.Gly39Arg)
|
|
|
|
NM_002076.4(GNS):c.1160A>G (p.Asn387Ser)
|
|
|
|
NM_002076.4(GNS):c.1161T>G (p.Asn387Lys)
|
rs2136240532
|
|
|
NM_002076.4(GNS):c.1166C>T (p.Thr389Ile)
|
rs944030718
|
|
|
NM_002076.4(GNS):c.1200+5_1200+7del
|
rs2136240506
|
|
|
NM_002076.4(GNS):c.1201A>G (p.Arg401Gly)
|
|
|
|
NM_002076.4(GNS):c.1229C>T (p.Ser410Leu)
|
|
|
|
NM_002076.4(GNS):c.1231G>C (p.Asp411His)
|
|
|
|
NM_002076.4(GNS):c.1232A>C (p.Asp411Ala)
|
|
|
|
NM_002076.4(GNS):c.1234G>A (p.Val412Ile)
|
|
|
|
NM_002076.4(GNS):c.1264A>G (p.Asn422Asp)
|
|
|
|
NM_002076.4(GNS):c.1267G>A (p.Val423Ile)
|
|
|
|
NM_002076.4(GNS):c.1309-6C>G
|
rs1592491918
|
|
|
NM_002076.4(GNS):c.1309-8C>A
|
|
|
|
NM_002076.4(GNS):c.1311A>G (p.Gln437=)
|
|
|
|
NM_002076.4(GNS):c.1323C>G (p.Asp441Glu)
|
|
|
|
NM_002076.4(GNS):c.1325G>A (p.Cys442Tyr)
|
|
|
|
NM_002076.4(GNS):c.1327G>A (p.Val443Ile)
|
|
|
|
NM_002076.4(GNS):c.1370C>T (p.Thr457Ile)
|
rs2136237284
|
|
|
NM_002076.4(GNS):c.1375T>G (p.Ser459Ala)
|
|
|
|
NM_002076.4(GNS):c.138G>T (p.Arg46Ser)
|
|
|
|
NM_002076.4(GNS):c.140C>T (p.Pro47Leu)
|
|
|
|
NM_002076.4(GNS):c.1424T>C (p.Phe475Ser)
|
|
|
|
NM_002076.4(GNS):c.142A>C (p.Asn48His)
|
|
|
|
NM_002076.4(GNS):c.1433T>G (p.Val478Gly)
|
|
|
|
NM_002076.4(GNS):c.1448C>A (p.Ala483Glu)
|
rs1163229693
|
|
|
NM_002076.4(GNS):c.145G>C (p.Val49Leu)
|
|
|
|
NM_002076.4(GNS):c.1471A>G (p.Ile491Val)
|
|
|
|
NM_002076.4(GNS):c.1516C>T (p.Arg506Trp)
|
|
|
|
NM_002076.4(GNS):c.1535C>T (p.Ser512Phe)
|
|
|
|
NM_002076.4(GNS):c.1537T>G (p.Cys513Gly)
|
|
|
|
NM_002076.4(GNS):c.1554T>A (p.Cys518Ter)
|
|
|
|
NM_002076.4(GNS):c.1555C>T (p.Arg519Cys)
|
|
|
|
NM_002076.4(GNS):c.1556G>A (p.Arg519His)
|
|
|
|
NM_002076.4(GNS):c.1571T>C (p.Phe524Ser)
|
|
|
|
NM_002076.4(GNS):c.1581-1G>A
|
rs1868873740
|
|
|
NM_002076.4(GNS):c.1585A>G (p.Arg529Gly)
|
|
|
|
NM_002076.4(GNS):c.1594C>T (p.Pro532Ser)
|
|
|
|
NM_002076.4(GNS):c.1600C>T (p.Leu534Phe)
|
|
|
|
NM_002076.4(GNS):c.1609A>C (p.Ser537Arg)
|
rs776925981
|
|
|
NM_002076.4(GNS):c.1609A>G (p.Ser537Gly)
|
|
|
|
NM_002076.4(GNS):c.1621A>G (p.Ser541Gly)
|
|
|
|
NM_002076.4(GNS):c.1627A>G (p.Arg543Gly)
|
rs763232728
|
|
|
NM_002076.4(GNS):c.1633C>T (p.Arg545Ter)
|
|
|
|
NM_002076.4(GNS):c.1652T>C (p.Leu551Pro)
|
|
|
|
NM_002076.4(GNS):c.16C>G (p.Leu6Val)
|
rs746189087
|
|
|
NM_002076.4(GNS):c.181C>T (p.Leu61Phe)
|
|
|
|
NM_002076.4(GNS):c.187G>T (p.Gly63Cys)
|
|
|
|
NM_002076.4(GNS):c.215C>G (p.Ala72Gly)
|
|
|
|
NM_002076.4(GNS):c.222C>G (p.Ile74Met)
|
|
|
|
NM_002076.4(GNS):c.227A>G (p.Glu76Gly)
|
|
|
|
NM_002076.4(GNS):c.229A>G (p.Met77Val)
|
rs763723151
|
|
|
NM_002076.4(GNS):c.254A>G (p.Tyr85Cys)
|
|
|
|
NM_002076.4(GNS):c.285A>T (p.Arg95Ser)
|
|
|
|
NM_002076.4(GNS):c.322C>T (p.His108Tyr)
|
|
|
|
NM_002076.4(GNS):c.333C>G (p.Asn111Lys)
|
|
|
|
NM_002076.4(GNS):c.34C>T (p.Arg12Trp)
|
|
|
|
NM_002076.4(GNS):c.359G>A (p.Ser120Asn)
|
|
|
|
NM_002076.4(GNS):c.35G>A (p.Arg12Gln)
|
|
|
|
NM_002076.4(GNS):c.361A>G (p.Lys121Glu)
|
|
|
|
NM_002076.4(GNS):c.365C>G (p.Ser122Cys)
|
|
|
|
NM_002076.4(GNS):c.386C>G (p.Pro129Arg)
|
|
|
|
NM_002076.4(GNS):c.389A>G (p.Asn130Ser)
|
|
|
|
NM_002076.4(GNS):c.391A>T (p.Thr131Ser)
|
|
|
|
NM_002076.4(GNS):c.400G>A (p.Ala134Thr)
|
|
|
|
NM_002076.4(GNS):c.446A>G (p.Lys149Arg)
|
|
|
|
NM_002076.4(GNS):c.472G>A (p.Asp158Asn)
|
|
|
|
NM_002076.4(GNS):c.493G>A (p.Val165Ile)
|
|
|
|
NM_002076.4(GNS):c.525G>A (p.Leu175=)
|
rs2136248840
|
|
|
NM_002076.4(GNS):c.554C>A (p.Thr185Asn)
|
|
|
|
NM_002076.4(GNS):c.587G>A (p.Gly196Asp)
|
|
|
|
NM_002076.4(GNS):c.596A>G (p.Tyr199Cys)
|
|
|
|
NM_002076.4(GNS):c.605A>G (p.Asp202Gly)
|
rs1439386150
|
|
|
NM_002076.4(GNS):c.605A>T (p.Asp202Val)
|
rs1439386150
|
|
|
NM_002076.4(GNS):c.640G>T (p.Asp214Tyr)
|
|
|
|
NM_002076.4(GNS):c.650A>G (p.Asp217Gly)
|
|
|
|
NM_002076.4(GNS):c.679A>C (p.Met227Leu)
|
rs901034074
|
|
|
NM_002076.4(GNS):c.694C>T (p.Pro232Ser)
|
|
|
|
NM_002076.4(GNS):c.698C>T (p.Ala233Val)
|
rs766044815
|
|
|
NM_002076.4(GNS):c.707C>T (p.Ser236Leu)
|
rs769055154
|
|
|
NM_002076.4(GNS):c.70C>G (p.Pro24Ala)
|
|
|
|
NM_002076.4(GNS):c.710C>T (p.Pro237Leu)
|
|
|
|
NM_002076.4(GNS):c.739G>A (p.Ala247Thr)
|
|
|
|
NM_002076.4(GNS):c.744C>G (p.Phe248Leu)
|
|
|
|
NM_002076.4(GNS):c.760C>A (p.Pro254Thr)
|
|
|
|
NM_002076.4(GNS):c.76C>G (p.Leu26Val)
|
|
|
|
NM_002076.4(GNS):c.770A>C (p.Lys257Thr)
|
|
|
|
NM_002076.4(GNS):c.779A>G (p.Asn260Ser)
|
rs2136247542
|
|
|
NM_002076.4(GNS):c.787G>C (p.Gly263Arg)
|
|
|
|
NM_002076.4(GNS):c.812G>A (p.Arg271Lys)
|
|
|
|
NM_002076.4(GNS):c.859A>G (p.Asn287Asp)
|
|
|
|
NM_002076.4(GNS):c.85C>G (p.Leu29Val)
|
|
|
|
NM_002076.4(GNS):c.882A>C (p.Gln294His)
|
|
|
|
NM_002076.4(GNS):c.896T>C (p.Val299Ala)
|
|
|
|
NM_002076.4(GNS):c.911A>G (p.Glu304Gly)
|
|
|
|
NM_002076.4(GNS):c.916C>A (p.Leu306Met)
|
|
|
|
NM_002076.4(GNS):c.916C>G (p.Leu306Val)
|
|
|
|
NM_002076.4(GNS):c.923A>G (p.Lys308Arg)
|
rs1168212943
|
|
|
NM_002076.4(GNS):c.926G>A (p.Arg309Lys)
|
|
|
|
NM_002076.4(GNS):c.940G>A (p.Gly314Arg)
|
|
|
|
NM_002076.4(GNS):c.950A>G (p.Asn317Ser)
|
rs2136245502
|
|
|
NM_002076.4(GNS):c.961A>G (p.Ile321Val)
|
|
|
|
NM_002076.4(GNS):c.986A>G (p.Tyr329Cys)
|
rs1338188022
|
|
|
NM_002076.4(GNS):c.994+20A>G
|
|
|
|
NM_002076.4(GNS):c.995-9T>A
|
rs2136244474
|
|
|
NM_002103.5(GYS1):c.1007A>G (p.Asn336Ser)
|
|
|
|
NM_002103.5(GYS1):c.1015G>T (p.Ala339Ser)
|
rs2038777847
|
|
|
NM_002103.5(GYS1):c.1018G>A (p.Asp340Asn)
|
|
|
|
NM_002103.5(GYS1):c.1020C>A (p.Asp340Glu)
|
rs13306415
|
|
|
NM_002103.5(GYS1):c.1046T>C (p.Leu349Pro)
|
|
|
|
NM_002103.5(GYS1):c.1072A>G (p.Ser358Gly)
|
|
|
|
NM_002103.5(GYS1):c.1077_1078delinsAA (p.Gln360Lys)
|
rs2038765010
|
|
|
NM_002103.5(GYS1):c.1085T>C (p.Val362Ala)
|
|
|
|
NM_002103.5(GYS1):c.1087G>A (p.Val363Ile)
|
rs1309992388
|
|
|
NM_002103.5(GYS1):c.1127A>G (p.Asn376Ser)
|
rs2038763501
|
|
|
NM_002103.5(GYS1):c.1142A>C (p.Lys381Thr)
|
rs1363049243
|
|
|
NM_002103.5(GYS1):c.1144G>A (p.Gly382Ser)
|
rs1172290122
|
|
|
NM_002103.5(GYS1):c.114C>G (p.Asn38Lys)
|
rs769788885
|
|
|
NM_002103.5(GYS1):c.1156C>T (p.Arg386Cys)
|
rs868354195
|
|
|
NM_002103.5(GYS1):c.1157G>A (p.Arg386His)
|
|
|
|
NM_002103.5(GYS1):c.118+3_118+4delinsAG
|
|
|
|
NM_002103.5(GYS1):c.1190A>G (p.Lys397Arg)
|
rs1600138867
|
|
|
NM_002103.5(GYS1):c.1201G>A (p.Gly401Arg)
|
|
|
|
NM_002103.5(GYS1):c.1202G>A (p.Gly401Glu)
|
rs1056476850
|
|
|
NM_002103.5(GYS1):c.1255A>G (p.Met419Val)
|
|
|
|
NM_002103.5(GYS1):c.1315_1316delinsAA (p.Ser439Asn)
|
rs1600135048
|
|
|
NM_002103.5(GYS1):c.1324C>A (p.Pro442Thr)
|
rs142951866
|
|
|
NM_002103.5(GYS1):c.134C>T (p.Thr45Met)
|
rs1600154972
|
|
|
NM_002103.5(GYS1):c.1363C>A (p.Pro455Thr)
|
|
|
|
NM_002103.5(GYS1):c.1363C>T (p.Pro455Ser)
|
rs2038617042
|
|
|
NM_002103.5(GYS1):c.1411G>A (p.Asp471Asn)
|
|
|
|
NM_002103.5(GYS1):c.1412A>G (p.Asp471Gly)
|
rs1306162963
|
|
|
NM_002103.5(GYS1):c.1423-3C>T
|
|
|
|
NM_002103.5(GYS1):c.1432C>T (p.His478Tyr)
|
rs2038611813
|
|
|
NM_002103.5(GYS1):c.1452_1454del (p.Thr485del)
|
rs764928908
|
|
|
NM_002103.5(GYS1):c.1473G>A (p.Val491=)
|
rs2038611070
|
|
|
NM_002103.5(GYS1):c.14G>A (p.Arg5His)
|
|
|
|
NM_002103.5(GYS1):c.150G>C (p.Lys50Asn)
|
|
|
|
NM_002103.5(GYS1):c.1528G>A (p.Glu510Lys)
|
rs1400682175
|
|
|
NM_002103.5(GYS1):c.1568G>A (p.Gly523Glu)
|
rs2122462376
|
|
|
NM_002103.5(GYS1):c.1589A>G (p.Asn530Ser)
|
|
|
|
NM_002103.5(GYS1):c.1634C>T (p.Pro545Leu)
|
|
|
|
NM_002103.5(GYS1):c.1676G>A (p.Ser559Asn)
|
|
|
|
NM_002103.5(GYS1):c.1698G>A (p.Gln566=)
|
|
|
|
NM_002103.5(GYS1):c.169G>A (p.Glu57Lys)
|
|
|
|
NM_002103.5(GYS1):c.1744C>T (p.Arg582Cys)
|
rs770398662
|
|
|
NM_002103.5(GYS1):c.1763G>A (p.Arg588His)
|
|
|
|
NM_002103.5(GYS1):c.176G>A (p.Gly59Asp)
|
|
|
|
NM_002103.5(GYS1):c.1808G>C (p.Arg603Pro)
|
rs143040823
|
|
|
NM_002103.5(GYS1):c.1811A>G (p.Tyr604Cys)
|
|
|
|
NM_002103.5(GYS1):c.1814A>G (p.Tyr605Cys)
|
rs760423376
|
|
|
NM_002103.5(GYS1):c.1822G>A (p.Ala608Thr)
|
rs2038528076
|
|
|
NM_002103.5(GYS1):c.1823C>G (p.Ala608Gly)
|
rs767229493
|
|
|
NM_002103.5(GYS1):c.1825C>A (p.Arg609Ser)
|
rs957644060
|
|
|
NM_002103.5(GYS1):c.1826G>A (p.Arg609His)
|
|
|
|
NM_002103.5(GYS1):c.1835C>T (p.Ala612Val)
|
rs773394859
|
|
|
NM_002103.5(GYS1):c.1846G>T (p.Ala616Ser)
|
|
|
|
NM_002103.5(GYS1):c.1865C>T (p.Thr622Ile)
|
rs2038526450
|
|
|
NM_002103.5(GYS1):c.1882_1883delinsCT (p.Ala628Leu)
|
rs2122454338
|
|
|
NM_002103.5(GYS1):c.1890+1G>T
|
|
|
|
NM_002103.5(GYS1):c.1898G>T (p.Gly633Val)
|
rs764135201
|
|
|
NM_002103.5(GYS1):c.1909C>G (p.Pro637Ala)
|
rs1600128045
|
|
|
NM_002103.5(GYS1):c.1918G>T (p.Ala640Ser)
|
|
|
|
NM_002103.5(GYS1):c.1948C>T (p.Arg650Ter)
|
|
|
|
NM_002103.5(GYS1):c.1966C>T (p.Gln656Ter)
|
rs1199839572
|
|
|
NM_002103.5(GYS1):c.1985A>G (p.Asp662Gly)
|
rs2038519963
|
|
|
NM_002103.5(GYS1):c.1987C>T (p.Pro663Ser)
|
|
|
|
NM_002103.5(GYS1):c.1994A>G (p.Asn665Ser)
|
|
|
|
NM_002103.5(GYS1):c.1995C>A (p.Asn665Lys)
|
|
|
|
NM_002103.5(GYS1):c.1A>C (p.Met1Leu)
|
rs748334413
|
|
|
NM_002103.5(GYS1):c.2021G>A (p.Arg674His)
|
rs779582211
|
|
|
NM_002103.5(GYS1):c.2032G>A (p.Asp678Asn)
|
rs2038518151
|
|
|
NM_002103.5(GYS1):c.2044G>A (p.Ala682Thr)
|
rs1419163800
|
|
|
NM_002103.5(GYS1):c.2056C>T (p.Arg686Cys)
|
|
|
|
NM_002103.5(GYS1):c.2057G>A (p.Arg686His)
|
rs1049444314
|
|
|
NM_002103.5(GYS1):c.2077T>A (p.Trp693Arg)
|
|
|
|
NM_002103.5(GYS1):c.2081C>G (p.Pro694Arg)
|
|
|
|
NM_002103.5(GYS1):c.2084_2085del (p.Arg695fs)
|
rs2122451939
|
|
|
NM_002103.5(GYS1):c.2089G>C (p.Ala697Pro)
|
|
|
|
NM_002103.5(GYS1):c.2096G>T (p.Cys699Phe)
|
rs928549424
|
|
|
NM_002103.5(GYS1):c.20T>C (p.Leu7Ser)
|
rs1298302518
|
|
|
NM_002103.5(GYS1):c.2132T>A (p.Val711Glu)
|
rs893694315
|
|
|
NM_002103.5(GYS1):c.2138C>T (p.Thr713Met)
|
rs771678316
|
|
|
NM_002103.5(GYS1):c.214G>T (p.Gly72Cys)
|
rs759776076
|
|
|
NM_002103.5(GYS1):c.2165del (p.Pro722fs)
|
rs757063983
|
|
|
NM_002103.5(GYS1):c.2168G>A (p.Ser723Asn)
|
rs1468841188
|
|
|
NM_002103.5(GYS1):c.2169C>A (p.Ser723Arg)
|
|
|
|
NM_002103.5(GYS1):c.2170G>A (p.Glu724Lys)
|
rs1053724936
|
|
|
NM_002103.5(GYS1):c.2182C>T (p.Pro728Ser)
|
|
|
|
NM_002103.5(GYS1):c.2198G>A (p.Gly733Asp)
|
rs2122451107
|
|
|
NM_002103.5(GYS1):c.2207del (p.Arg736fs)
|
rs2038513000
|
|
|
NM_002103.5(GYS1):c.221G>C (p.Arg74Thr)
|
rs1600154718
|
|
|
NM_002103.5(GYS1):c.27G>C (p.Met9Ile)
|
rs1568628315
|
|
|
NM_002103.5(GYS1):c.289A>G (p.Lys97Glu)
|
rs764543224
|
|
|
NM_002103.5(GYS1):c.324C>G (p.Ile108Met)
|
rs5455
|
|
|
NM_002103.5(GYS1):c.334C>T (p.Pro112Ser)
|
|
|
|
NM_002103.5(GYS1):c.382C>T (p.Arg128Cys)
|
|
|
|
NM_002103.5(GYS1):c.38C>T (p.Pro13Leu)
|
rs2122550059
|
|
|
NM_002103.5(GYS1):c.3G>T (p.Met1Ile)
|
rs758161697
|
|
|
NM_002103.5(GYS1):c.40G>C (p.Gly14Arg)
|
rs753758690
|
|
|
NM_002103.5(GYS1):c.410G>A (p.Cys137Tyr)
|
rs2038856931
|
|
|
NM_002103.5(GYS1):c.437G>A (p.Arg146His)
|
|
|
|
NM_002103.5(GYS1):c.448G>T (p.Asp150Tyr)
|
rs548135246
|
|
|
NM_002103.5(GYS1):c.457C>G (p.Leu153Val)
|
|
|
|
NM_002103.5(GYS1):c.488G>T (p.Gly163Val)
|
|
|
|
NM_002103.5(GYS1):c.495C>G (p.Phe165Leu)
|
|
|
|
NM_002103.5(GYS1):c.517C>G (p.Pro173Ala)
|
|
|
|
NM_002103.5(GYS1):c.524T>C (p.Val175Ala)
|
rs1432620791
|
|
|
NM_002103.5(GYS1):c.568C>G (p.Leu190Val)
|
rs1345491779
|
|
|
NM_002103.5(GYS1):c.56A>T (p.Glu19Val)
|
rs2122549955
|
|
|
NM_002103.5(GYS1):c.580C>T (p.Arg194Trp)
|
rs1455481597
|
|
|
NM_002103.5(GYS1):c.601A>G (p.Ile201Val)
|
|
|
|
NM_002103.5(GYS1):c.646G>A (p.Gly216Ser)
|
rs141601517
|
|
|
NM_002103.5(GYS1):c.647G>C (p.Gly216Ala)
|
rs2038835260
|
|
|
NM_002103.5(GYS1):c.650C>T (p.Ala217Val)
|
rs148365002
|
|
|
NM_002103.5(GYS1):c.652G>C (p.Val218Leu)
|
rs771977818
|
|
|
NM_002103.5(GYS1):c.661T>G (p.Tyr221Asp)
|
|
|
|
NM_002103.5(GYS1):c.666C>A (p.Asn222Lys)
|
rs201548356
|
|
|
NM_002103.5(GYS1):c.666C>G (p.Asn222Lys)
|
rs201548356
|
|
|
NM_002103.5(GYS1):c.67G>A (p.Asp23Asn)
|
|
|
|
NM_002103.5(GYS1):c.704A>T (p.Glu235Val)
|
rs2038830108
|
|
|
NM_002103.5(GYS1):c.797C>T (p.Ala266Val)
|
rs1253678206
|
|
|
NM_002103.5(GYS1):c.827T>C (p.Ile276Thr)
|
rs2038788050
|
|
|
NM_002103.5(GYS1):c.853AAG[1] (p.Lys286del)
|
rs760885403
|
|
|
NM_002103.5(GYS1):c.872A>G (p.His291Arg)
|
rs967075263
|
|
|
NM_002103.5(GYS1):c.892G>A (p.Ala298Thr)
|
|
|
|
NM_002103.5(GYS1):c.908G>A (p.Arg303Gln)
|
|
|
|
NM_002103.5(GYS1):c.926G>A (p.Arg309Gln)
|
rs1183870445
|
|
|
NM_002103.5(GYS1):c.941+5G>A
|
|
|
|
NM_002103.5(GYS1):c.944A>T (p.His315Leu)
|
rs1432327187
|
|
|
NM_002103.5(GYS1):c.985G>A (p.Ala329Thr)
|
|
|
|
NM_002103.5(GYS1):c.988G>C (p.Gly330Arg)
|
|
|
|
NM_002103.5(GYS1):c.98C>G (p.Ala33Gly)
|
|
|
|
NM_002103.5(GYS1):c.992G>C (p.Arg331Pro)
|
rs1280294667
|
|
|
NM_002294.3(LAMP2):c.1009G>C (p.Val337Leu)
|
|
|
|
NM_002294.3(LAMP2):c.1015G>C (p.Val339Leu)
|
rs1602532154
|
|
|
NM_002294.3(LAMP2):c.1030C>G (p.Gln344Glu)
|
|
|
|
NM_002294.3(LAMP2):c.1033A>G (p.Ile345Val)
|
|
|
|
NM_002294.3(LAMP2):c.1040C>G (p.Thr347Ser)
|
rs730880487
|
|
|
NM_002294.3(LAMP2):c.1054G>A (p.Val352Ile)
|
|
|
|
NM_002294.3(LAMP2):c.1084T>C (p.Tyr362His)
|
|
|
|
NM_002294.3(LAMP2):c.1093+2440_1093+2441del
|
rs2147277541
|
|
|
NM_002294.3(LAMP2):c.1093+2532G>T
|
rs730880488
|
|
|
NM_002294.3(LAMP2):c.1093+5G>A
|
|
|
|
NM_002294.3(LAMP2):c.1094-1G>C
|
rs1331940434
|
|
|
NM_002294.3(LAMP2):c.1094-2A>G
|
rs2147273254
|
|
|
NM_002294.3(LAMP2):c.1103G>A (p.Cys368Tyr)
|
|
|
|
NM_002294.3(LAMP2):c.1118A>T (p.Asp373Val)
|
rs769995100
|
|
|
NM_002294.3(LAMP2):c.1123T>C (p.Phe375Leu)
|
rs2058522629
|
|
|
NM_002294.3(LAMP2):c.1127T>C (p.Leu376Pro)
|
rs2058522581
|
|
|
NM_002294.3(LAMP2):c.1175T>C (p.Val392Ala)
|
|
|
|
NM_002294.3(LAMP2):c.1193T>C (p.Ile398Thr)
|
rs727504625
|
|
|
NM_002294.3(LAMP2):c.1196G>C (p.Gly399Ala)
|
|
|
|
NM_002294.3(LAMP2):c.1204C>A (p.His402Asn)
|
rs1418868953
|
|
|
NM_002294.3(LAMP2):c.1204C>T (p.His402Tyr)
|
|
|
|
NM_002294.3(LAMP2):c.1205A>G (p.His402Arg)
|
rs2058522237
|
|
|
NM_002294.3(LAMP2):c.1213G>A (p.Ala405Thr)
|
rs1556078130
|
|
|
NM_002294.3(LAMP2):c.13C>T (p.Arg5Cys)
|
rs2147294900
|
|
|
NM_002294.3(LAMP2):c.14G>T (p.Arg5Leu)
|
rs1921666685
|
|
|
NM_002294.3(LAMP2):c.158G>T (p.Arg53Leu)
|
|
|
|
NM_002294.3(LAMP2):c.166A>G (p.Thr56Ala)
|
rs2147287602
|
|
|
NM_002294.3(LAMP2):c.184-18A>G
|
|
|
|
NM_002294.3(LAMP2):c.199T>C (p.Ser67Pro)
|
rs2147286966
|
|
|
NM_002294.3(LAMP2):c.1A>C (p.Met1Leu)
|
rs1556124149
|
|
|
NM_002294.3(LAMP2):c.200C>T (p.Ser67Leu)
|
|
|
|
NM_002294.3(LAMP2):c.211A>G (p.Thr71Ala)
|
|
|
|
NM_002294.3(LAMP2):c.212C>T (p.Thr71Ile)
|
|
|
|
NM_002294.3(LAMP2):c.251A>G (p.Asn84Ser)
|
rs2147286887
|
|
|
NM_002294.3(LAMP2):c.25G>C (p.Val9Leu)
|
rs1921665698
|
|
|
NM_002294.3(LAMP2):c.260A>C (p.Lys87Thr)
|
rs1556112678
|
|
|
NM_002294.3(LAMP2):c.263T>C (p.Ile88Thr)
|
rs1569371283
|
|
|
NM_002294.3(LAMP2):c.280C>G (p.Pro94Ala)
|
rs2147286839
|
|
|
NM_002294.3(LAMP2):c.281C>T (p.Pro94Leu)
|
|
|
|
NM_002294.3(LAMP2):c.286T>C (p.Phe96Leu)
|
rs1421127800
|
|
|
NM_002294.3(LAMP2):c.313G>A (p.Ala105Thr)
|
|
|
|
NM_002294.3(LAMP2):c.316G>A (p.Ala106Thr)
|
rs1305798857
|
|
|
NM_002294.3(LAMP2):c.316G>T (p.Ala106Ser)
|
rs1305798857
|
|
|
NM_002294.3(LAMP2):c.331A>G (p.Ile111Val)
|
rs762218821
|
|
|
NM_002294.3(LAMP2):c.334G>A (p.Asp112Asn)
|
|
|
|
NM_002294.3(LAMP2):c.339C>G (p.Ser113Arg)
|
rs147369153
|
|
|
NM_002294.3(LAMP2):c.344C>T (p.Ser115Leu)
|
|
|
|
NM_002294.3(LAMP2):c.358A>C (p.Thr120Pro)
|
|
|
|
NM_002294.3(LAMP2):c.364G>A (p.Asp122Asn)
|
rs730880480
|
|
|
NM_002294.3(LAMP2):c.380C>G (p.Pro127Arg)
|
rs1200950486
|
|
|
NM_002294.3(LAMP2):c.380C>T (p.Pro127Leu)
|
rs1200950486
|
|
|
NM_002294.3(LAMP2):c.382G>T (p.Asp128Tyr)
|
|
|
|
NM_002294.3(LAMP2):c.398G>A (p.Gly133Glu)
|
rs2147283120
|
|
|
NM_002294.3(LAMP2):c.409G>C (p.Val137Leu)
|
rs2147283117
|
|
|
NM_002294.3(LAMP2):c.416A>T (p.Glu139Val)
|
rs1602536486
|
|
|
NM_002294.3(LAMP2):c.424G>C (p.Ala142Pro)
|
rs2058610678
|
|
|
NM_002294.3(LAMP2):c.425C>T (p.Ala142Val)
|
|
|
|
NM_002294.3(LAMP2):c.455G>A (p.Arg152Lys)
|
|
|
|
NM_002294.3(LAMP2):c.458G>A (p.Cys153Tyr)
|
rs2058610425
|
|
|
NM_002294.3(LAMP2):c.458G>T (p.Cys153Phe)
|
rs2058610425
|
|
|
NM_002294.3(LAMP2):c.463A>G (p.Ser155Gly)
|
|
|
|
NM_002294.3(LAMP2):c.467T>C (p.Leu156Ser)
|
rs1385890053
|
|
|
NM_002294.3(LAMP2):c.490G>A (p.Val164Ile)
|
|
|
|
NM_002294.3(LAMP2):c.49G>A (p.Val17Ile)
|
rs777718603
|
|
|
NM_002294.3(LAMP2):c.52T>C (p.Cys18Arg)
|
|
|
|
NM_002294.3(LAMP2):c.533A>C (p.Gln178Pro)
|
rs775432228
|
|
|
NM_002294.3(LAMP2):c.554A>G (p.Asn185Ser)
|
rs1207197859
|
|
|
NM_002294.3(LAMP2):c.571A>G (p.Lys191Glu)
|
rs2058605695
|
|
|
NM_002294.3(LAMP2):c.581C>A (p.Thr194Asn)
|
rs1033442580
|
|
|
NM_002294.3(LAMP2):c.581C>G (p.Thr194Ser)
|
|
|
|
NM_002294.3(LAMP2):c.581C>T (p.Thr194Ile)
|
|
|
|
NM_002294.3(LAMP2):c.586A>G (p.Thr196Ala)
|
|
|
|
NM_002294.3(LAMP2):c.589G>A (p.Val197Met)
|
|
|
|
NM_002294.3(LAMP2):c.589G>C (p.Val197Leu)
|
rs1360458497
|
|
|
NM_002294.3(LAMP2):c.59T>G (p.Val20Gly)
|
rs1921661568
|
|
|
NM_002294.3(LAMP2):c.617C>T (p.Pro206Leu)
|
rs1602535864
|
|
|
NM_002294.3(LAMP2):c.629C>A (p.Thr210Lys)
|
rs2058604992
|
|
|
NM_002294.3(LAMP2):c.643A>G (p.Lys215Glu)
|
rs2058604823
|
|
|
NM_002294.3(LAMP2):c.65-6A>G
|
rs1921113552
|
|
|
NM_002294.3(LAMP2):c.676A>G (p.Asn226Asp)
|
|
|
|
NM_002294.3(LAMP2):c.685A>G (p.Asn229Asp)
|
|
|
|
NM_002294.3(LAMP2):c.688G>A (p.Asp230Asn)
|
|
|
|
NM_002294.3(LAMP2):c.704C>T (p.Ala235Val)
|
rs2058604458
|
|
|
NM_002294.3(LAMP2):c.710T>C (p.Met237Thr)
|
rs2147282386
|
|
|
NM_002294.3(LAMP2):c.713G>C (p.Gly238Ala)
|
|
|
|
NM_002294.3(LAMP2):c.715C>G (p.Leu239Val)
|
rs730880481
|
|
|
NM_002294.3(LAMP2):c.719A>C (p.Gln240Pro)
|
|
|
|
NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser)
|
rs1288096114
|
|
|
NM_002294.3(LAMP2):c.733C>G (p.Gln245Glu)
|
rs1246477767
|
|
|
NM_002294.3(LAMP2):c.737A>G (p.Asp246Gly)
|
rs730880482
|
|
|
NM_002294.3(LAMP2):c.739A>G (p.Lys247Glu)
|
|
|
|
NM_002294.3(LAMP2):c.741+6G>A
|
|
|
|
NM_002294.3(LAMP2):c.741G>A (p.Lys247=)
|
|
|
|
NM_002294.3(LAMP2):c.745G>A (p.Ala249Thr)
|
rs2058596707
|
|
|
NM_002294.3(LAMP2):c.755T>C (p.Ile252Thr)
|
rs141541387
|
|
|
NM_002294.3(LAMP2):c.758A>C (p.Asn253Thr)
|
|
|
|
NM_002294.3(LAMP2):c.770A>G (p.Asn257Ser)
|
rs1569369275
|
|
|
NM_002294.3(LAMP2):c.773C>G (p.Thr258Arg)
|
rs111703410
|
|
|
NM_002294.3(LAMP2):c.80A>G (p.Tyr27Cys)
|
rs1449153826
|
|
|
NM_002294.3(LAMP2):c.80A>T (p.Tyr27Phe)
|
|
|
|
NM_002294.3(LAMP2):c.815T>C (p.Leu272Pro)
|
rs1569369217
|
|
|
NM_002294.3(LAMP2):c.815T>G (p.Leu272Arg)
|
rs1569369217
|
|
|
NM_002294.3(LAMP2):c.823A>C (p.Asn275His)
|
rs143699208
|
|
|
NM_002294.3(LAMP2):c.832A>C (p.Thr278Pro)
|
rs2147281387
|
|
|
NM_002294.3(LAMP2):c.842A>G (p.Tyr281Cys)
|
rs397516748
|
|
|
NM_002294.3(LAMP2):c.850T>C (p.Phe284Leu)
|
|
|
|
NM_002294.3(LAMP2):c.864+5G>T
|
rs1352584474
|
|
|
NM_002294.3(LAMP2):c.864+6T>C
|
rs2147281347
|
|
|
NM_002294.3(LAMP2):c.86T>C (p.Leu29Ser)
|
|
|
|
NM_002294.3(LAMP2):c.878G>A (p.Arg293Gln)
|
rs1224940162
|
|
|
NM_002294.3(LAMP2):c.887T>C (p.Leu296Pro)
|
rs730880486
|
|
|
NM_002294.3(LAMP2):c.887T>G (p.Leu296Arg)
|
rs730880486
|
|
|
NM_002294.3(LAMP2):c.8G>C (p.Cys3Ser)
|
|
|
|
NM_002294.3(LAMP2):c.906C>T (p.Ser302=)
|
|
|
|
NM_002294.3(LAMP2):c.907A>G (p.Met303Val)
|
rs768369360
|
|
|
NM_002294.3(LAMP2):c.919A>G (p.Asn307Asp)
|
rs2147279488
|
|
|
NM_002294.3(LAMP2):c.928+3A>G
|
rs2147279469
|
|
|
NM_002294.3(LAMP2):c.928+4A>G
|
rs1602532732
|
|
|
NM_002294.3(LAMP2):c.928+5G>A
|
|
|
|
NM_002294.3(LAMP2):c.94A>G (p.Asn32Asp)
|
|
|
|
NM_002294.3(LAMP2):c.961T>C (p.Trp321Arg)
|
rs104894859
|
|
|
NM_002294.3(LAMP2):c.965A>T (p.Asp322Val)
|
|
|
|
NM_002294.3(LAMP2):c.970C>T (p.Pro324Ser)
|
rs866736614
|
|
|
NM_002294.3(LAMP2):c.973C>G (p.Leu325Val)
|
|
|
|
NM_002294.3(LAMP2):c.976G>C (p.Gly326Arg)
|
|
|
|
NM_002294.3(LAMP2):c.991T>C (p.Cys331Arg)
|
|
|
|
NM_002637.4(PHKA1):c.1016G>A (p.Gly339Glu)
|
|
|
|
NM_002637.4(PHKA1):c.1057G>A (p.Glu353Lys)
|
|
|
|
NM_002637.4(PHKA1):c.1072G>C (p.Val358Leu)
|
|
|
|
NM_002637.4(PHKA1):c.1082A>G (p.Lys361Arg)
|
rs2147761614
|
|
|
NM_002637.4(PHKA1):c.1100C>T (p.Pro367Leu)
|
|
|
|
NM_002637.4(PHKA1):c.1191A>T (p.Lys397Asn)
|
|
|
|
NM_002637.4(PHKA1):c.1222A>G (p.Ile408Val)
|
|
|
|
NM_002637.4(PHKA1):c.1222A>T (p.Ile408Phe)
|
rs2147760351
|
|
|
NM_002637.4(PHKA1):c.1316T>C (p.Val439Ala)
|
|
|
|
NM_002637.4(PHKA1):c.1361T>C (p.Ile454Thr)
|
|
|
|
NM_002637.4(PHKA1):c.1378A>G (p.Ile460Val)
|
|
|
|
NM_002637.4(PHKA1):c.1393A>G (p.Ile465Val)
|
|
|
|
NM_002637.4(PHKA1):c.1416A>C (p.Arg472Ser)
|
|
|
|
NM_002637.4(PHKA1):c.1459+6_1459+8del
|
rs782679415
|
|
|
NM_002637.4(PHKA1):c.1460-12A>G
|
|
|
|
NM_002637.4(PHKA1):c.1549A>G (p.Ile517Val)
|
|
|
|
NM_002637.4(PHKA1):c.1592A>G (p.Tyr531Cys)
|
|
|
|
NM_002637.4(PHKA1):c.1623A>C (p.Glu541Asp)
|
|
|
|
NM_002637.4(PHKA1):c.1654A>G (p.Ser552Gly)
|
|
|
|
NM_002637.4(PHKA1):c.1657C>T (p.Arg553Cys)
|
|
|
|
NM_002637.4(PHKA1):c.1663C>T (p.Arg555Trp)
|
|
|
|
NM_002637.4(PHKA1):c.1664G>A (p.Arg555Gln)
|
|
|
|
NM_002637.4(PHKA1):c.1715-16T>C
|
|
|
|
NM_002637.4(PHKA1):c.1726A>G (p.Thr576Ala)
|
|
|
|
NM_002637.4(PHKA1):c.1745T>C (p.Ile582Thr)
|
|
|
|
NM_002637.4(PHKA1):c.1746C>G (p.Ile582Met)
|
|
|
|
NM_002637.4(PHKA1):c.1754C>T (p.Ala585Val)
|
|
|
|
NM_002637.4(PHKA1):c.1760G>A (p.Arg587Gln)
|
|
|
|
NM_002637.4(PHKA1):c.1819T>C (p.Phe607Leu)
|
|
|
|
NM_002637.4(PHKA1):c.184C>G (p.Arg62Gly)
|
|
|
|
NM_002637.4(PHKA1):c.1945G>C (p.Asp649His)
|
|
|
|
NM_002637.4(PHKA1):c.1946A>C (p.Asp649Ala)
|
|
|
|
NM_002637.4(PHKA1):c.1978G>A (p.Val660Ile)
|
|
|
|
NM_002637.4(PHKA1):c.199C>G (p.Arg67Gly)
|
|
|
|
NM_002637.4(PHKA1):c.2003T>C (p.Leu668Ser)
|
rs2052967940
|
|
|
NM_002637.4(PHKA1):c.2006C>A (p.Ala669Glu)
|
|
|
|
NM_002637.4(PHKA1):c.2008C>T (p.His670Tyr)
|
|
|
|
NM_002637.4(PHKA1):c.2033C>A (p.Ala678Asp)
|
rs1247275284
|
|
|
NM_002637.4(PHKA1):c.2035C>A (p.Pro679Thr)
|
|
|
|
NM_002637.4(PHKA1):c.2062C>T (p.Arg688Trp)
|
|
|
|
NM_002637.4(PHKA1):c.207G>C (p.Glu69Asp)
|
|
|
|
NM_002637.4(PHKA1):c.2092G>A (p.Asp698Asn)
|
rs1064796509
|
|
|
NM_002637.4(PHKA1):c.2093A>T (p.Asp698Val)
|
|
|
|
NM_002637.4(PHKA1):c.2101_2106del (p.Ser701_Leu702del)
|
|
|
|
NM_002637.4(PHKA1):c.2146A>G (p.Met716Val)
|
|
|
|
NM_002637.4(PHKA1):c.2171A>G (p.Gln724Arg)
|
|
|
|
NM_002637.4(PHKA1):c.2180G>A (p.Arg727Gln)
|
|
|
|
NM_002637.4(PHKA1):c.2200G>A (p.Asp734Asn)
|
|
|
|
NM_002637.4(PHKA1):c.2212C>A (p.Pro738Thr)
|
|
|
|
NM_002637.4(PHKA1):c.2216G>A (p.Arg739Gln)
|
|
|
|
NM_002637.4(PHKA1):c.2219A>G (p.Gln740Arg)
|
rs2147705472
|
|
|
NM_002637.4(PHKA1):c.2243G>A (p.Arg748His)
|
rs2147704831
|
|
|
NM_002637.4(PHKA1):c.2280G>C (p.Glu760Asp)
|
|
|
|
NM_002637.4(PHKA1):c.2369+12A>G
|
|
|
|
NM_002637.4(PHKA1):c.2370A>G (p.Lys790=)
|
|
|
|
NM_002637.4(PHKA1):c.2379C>A (p.Asp793Glu)
|
|
|
|
NM_002637.4(PHKA1):c.2384A>G (p.Asn795Ser)
|
|
|
|
NM_002637.4(PHKA1):c.2384A>T (p.Asn795Ile)
|
|
|
|
NM_002637.4(PHKA1):c.2393T>C (p.Leu798Ser)
|
|
|
|
NM_002637.4(PHKA1):c.2416G>C (p.Val806Leu)
|
|
|
|
NM_002637.4(PHKA1):c.2422G>A (p.Glu808Lys)
|
|
|
|
NM_002637.4(PHKA1):c.2461C>T (p.Arg821Cys)
|
|
|
|
NM_002637.4(PHKA1):c.2471G>A (p.Gly824Asp)
|
|
|
|
NM_002637.4(PHKA1):c.2513A>G (p.Glu838Gly)
|
|
|
|
NM_002637.4(PHKA1):c.2514A>C (p.Glu838Asp)
|
|
|
|
NM_002637.4(PHKA1):c.2526+5T>C
|
rs1556259531
|
|
|
NM_002637.4(PHKA1):c.2526+6A>G
|
|
|
|
NM_002637.4(PHKA1):c.2546C>T (p.Ser849Phe)
|
|
|
|
NM_002637.4(PHKA1):c.2550C>G (p.His850Gln)
|
|
|
|
NM_002637.4(PHKA1):c.2588G>A (p.Arg863Gln)
|
|
|
|
NM_002637.4(PHKA1):c.2599A>G (p.Ile867Val)
|
|
|
|
NM_002637.4(PHKA1):c.2603C>T (p.Ser868Phe)
|
|
|
|
NM_002637.4(PHKA1):c.2608C>T (p.Pro870Ser)
|
|
|
|
NM_002637.4(PHKA1):c.2615C>T (p.Pro872Leu)
|
|
|
|
NM_002637.4(PHKA1):c.2618A>G (p.Tyr873Cys)
|
|
|
|
NM_002637.4(PHKA1):c.2623G>A (p.Ala875Thr)
|
|
|
|
NM_002637.4(PHKA1):c.2657G>C (p.Gly886Ala)
|
|
|
|
NM_002637.4(PHKA1):c.2660A>T (p.Asp887Val)
|
|
|
|
NM_002637.4(PHKA1):c.2662A>G (p.Met888Val)
|
|
|
|
NM_002637.4(PHKA1):c.2689A>G (p.Ile897Val)
|
|
|
|
NM_002637.4(PHKA1):c.2708T>A (p.Met903Lys)
|
|
|
|
NM_002637.4(PHKA1):c.2715G>A (p.Met905Ile)
|
rs1603254167
|
|
|
NM_002637.4(PHKA1):c.2750G>A (p.Arg917Gln)
|
|
|
|
NM_002637.4(PHKA1):c.2750G>T (p.Arg917Leu)
|
|
|
|
NM_002637.4(PHKA1):c.2756G>A (p.Arg919Gln)
|
|
|
|
NM_002637.4(PHKA1):c.275T>C (p.Met92Thr)
|
rs2054264983
|
|
|
NM_002637.4(PHKA1):c.2780T>C (p.Met927Thr)
|
|
|
|
NM_002637.4(PHKA1):c.2839A>G (p.Met947Val)
|
|
|
|
NM_002637.4(PHKA1):c.285+5G>A
|
|
|
|
NM_002637.4(PHKA1):c.2890G>A (p.Gly964Ser)
|
|
|
|
NM_002637.4(PHKA1):c.2920C>T (p.Arg974Cys)
|
|
|
|
NM_002637.4(PHKA1):c.2938G>A (p.Val980Ile)
|
|
|
|
NM_002637.4(PHKA1):c.2957T>C (p.Ile986Thr)
|
|
|
|
NM_002637.4(PHKA1):c.2962G>A (p.Glu988Lys)
|
|
|
|
NM_002637.4(PHKA1):c.2965A>T (p.Ile989Phe)
|
|
|
|
NM_002637.4(PHKA1):c.2969G>A (p.Gly990Asp)
|
|
|
|
NM_002637.4(PHKA1):c.29G>A (p.Arg10Gln)
|
rs1603278200
|
|
|
NM_002637.4(PHKA1):c.3036G>A (p.Val1012=)
|
rs2147674398
|
|
|
NM_002637.4(PHKA1):c.3044G>A (p.Arg1015His)
|
|
|
|
NM_002637.4(PHKA1):c.3072+3G>A
|
|
|
|
NM_002637.4(PHKA1):c.3076C>T (p.Pro1026Ser)
|
|
|
|
NM_002637.4(PHKA1):c.3090G>T (p.Met1030Ile)
|
|
|
|
NM_002637.4(PHKA1):c.3101G>A (p.Ser1034Asn)
|
|
|
|
NM_002637.4(PHKA1):c.3103G>A (p.Gly1035Arg)
|
|
|
|
NM_002637.4(PHKA1):c.3116G>A (p.Ser1039Asn)
|
|
|
|
NM_002637.4(PHKA1):c.3119C>T (p.Ala1040Val)
|
|
|
|
NM_002637.4(PHKA1):c.3121T>C (p.Tyr1041His)
|
|
|
|
NM_002637.4(PHKA1):c.3143A>G (p.Asp1048Gly)
|
|
|
|
NM_002637.4(PHKA1):c.315T>G (p.Ser105Arg)
|
rs2147825866
|
|
|
NM_002637.4(PHKA1):c.3223G>C (p.Val1075Leu)
|
|
|
|
NM_002637.4(PHKA1):c.3271G>T (p.Val1091Phe)
|
|
|
|
NM_002637.4(PHKA1):c.3304C>A (p.Pro1102Thr)
|
|
|
|
NM_002637.4(PHKA1):c.3356C>T (p.Pro1119Leu)
|
|
|
|
NM_002637.4(PHKA1):c.3407T>C (p.Met1136Thr)
|
rs782034813
|
|
|
NM_002637.4(PHKA1):c.3439A>G (p.Ser1147Gly)
|
|
|
|
NM_002637.4(PHKA1):c.3485T>A (p.Phe1162Tyr)
|
|
|
|
NM_002637.4(PHKA1):c.3497A>T (p.Gln1166Leu)
|
|
|
|
NM_002637.4(PHKA1):c.3520A>G (p.Thr1174Ala)
|
|
|
|
NM_002637.4(PHKA1):c.3538C>A (p.Pro1180Thr)
|
|
|
|
NM_002637.4(PHKA1):c.3568G>C (p.Asp1190His)
|
rs2147636584
|
|
|
NM_002637.4(PHKA1):c.3605A>T (p.Tyr1202Phe)
|
|
|
|
NM_002637.4(PHKA1):c.446C>T (p.Thr149Ile)
|
|
|
|
NM_002637.4(PHKA1):c.466A>G (p.Ile156Val)
|
|
|
|
NM_002637.4(PHKA1):c.484G>A (p.Val162Ile)
|
|
|
|
NM_002637.4(PHKA1):c.493A>G (p.Ile165Val)
|
rs2053946596
|
|
|
NM_002637.4(PHKA1):c.537+5G>A
|
|
|
|
NM_002637.4(PHKA1):c.576A>C (p.Gln192His)
|
|
|
|
NM_002637.4(PHKA1):c.647A>G (p.Asp216Gly)
|
|
|
|
NM_002637.4(PHKA1):c.664G>T (p.Gly222Cys)
|
|
|
|
NM_002637.4(PHKA1):c.665G>T (p.Gly222Val)
|
|
|
|
NM_002637.4(PHKA1):c.686A>G (p.His229Arg)
|
|
|
|
NM_002637.4(PHKA1):c.711C>G (p.His237Gln)
|
|
|
|
NM_002637.4(PHKA1):c.719C>G (p.Ser240Cys)
|
|
|
|
NM_002637.4(PHKA1):c.723C>G (p.Ile241Met)
|
|
|
|
NM_002637.4(PHKA1):c.743G>A (p.Arg248His)
|
|
|
|
NM_002637.4(PHKA1):c.784G>A (p.Val262Met)
|
|
|
|
NM_002637.4(PHKA1):c.982T>C (p.Trp328Arg)
|
|
|
|
NM_002863.5(PYGL):c.1000G>C (p.Val334Leu)
|
rs2142798340
|
|
|
NM_002863.5(PYGL):c.1006A>G (p.Ile336Val)
|
rs570077088
|
|
|
NM_002863.5(PYGL):c.1090A>G (p.Lys364Glu)
|
|
|
|
NM_002863.5(PYGL):c.1159C>T (p.Arg387Cys)
|
rs773575319
|
|
|
NM_002863.5(PYGL):c.1160G>A (p.Arg387His)
|
|
|
|
NM_002863.5(PYGL):c.1160G>T (p.Arg387Leu)
|
|
|
|
NM_002863.5(PYGL):c.1195C>G (p.Arg399Gly)
|
rs113993978
|
|
|
NM_002863.5(PYGL):c.1390G>T (p.Val464Leu)
|
rs779051230
|
|
|
NM_002863.5(PYGL):c.1518G>A (p.Glu506=)
|
rs748519147
|
|
|
NM_002863.5(PYGL):c.16A>C (p.Thr6Pro)
|
rs2050732195
|
|
|
NM_002863.5(PYGL):c.1715A>G (p.His572Arg)
|
|
|
|
NM_002863.5(PYGL):c.1902C>G (p.Asp634Glu)
|
|
|
|
NM_002863.5(PYGL):c.1925A>C (p.Lys642Thr)
|
|
|
|
NM_002863.5(PYGL):c.2014A>C (p.Thr672Pro)
|
rs1241000496
|
|
|
NM_002863.5(PYGL):c.2042A>G (p.Lys681Arg)
|
|
|
|
NM_002863.5(PYGL):c.2062_2088del (p.Leu688_Ala696del)
|
rs2050376472
|
|
|
NM_002863.5(PYGL):c.2066C>T (p.Thr689Ile)
|
rs2142788432
|
|
|
NM_002863.5(PYGL):c.208C>A (p.Arg70Ser)
|
rs1555328661
|
|
|
NM_002863.5(PYGL):c.211A>C (p.Thr71Pro)
|
|
|
|
NM_002863.5(PYGL):c.2142G>A (p.Met714Ile)
|
|
|
|
NM_002863.5(PYGL):c.2209C>T (p.Pro737Ser)
|
rs759925909
|
|
|
NM_002863.5(PYGL):c.229_231del (p.Asp77del)
|
|
|
|
NM_002863.5(PYGL):c.2341T>C (p.Tyr781His)
|
rs2142785955
|
|
|
NM_002863.5(PYGL):c.2447G>A (p.Arg816Gln)
|
|
|
|
NM_002863.5(PYGL):c.2544_*12del (p.Ter848CysextTer?)
|
|
|
|
NM_002863.5(PYGL):c.275T>G (p.Met92Arg)
|
rs767745350
|
|
|
NM_002863.5(PYGL):c.281G>A (p.Arg94Gln)
|
|
|
|
NM_002863.5(PYGL):c.283A>G (p.Thr95Ala)
|
rs200623468
|
|
|
NM_002863.5(PYGL):c.406G>C (p.Gly136Arg)
|
rs2139194721
|
|
|
NM_002863.5(PYGL):c.41T>A (p.Ile14Asn)
|
rs1566518078
|
|
|
NM_002863.5(PYGL):c.444G>A (p.Met148Ile)
|
rs2050603053
|
|
|
NM_002863.5(PYGL):c.449C>T (p.Thr150Ile)
|
rs1596047964
|
|
|
NM_002863.5(PYGL):c.49C>T (p.Arg17Cys)
|
|
|
|
NM_002863.5(PYGL):c.559G>A (p.Gly187Arg)
|
rs770642815
|
|
|
NM_002863.5(PYGL):c.592A>C (p.Met198Leu)
|
|
|
|
NM_002863.5(PYGL):c.607T>G (p.Phe203Val)
|
rs1345778137
|
|
|
NM_002863.5(PYGL):c.637G>A (p.Gly213Arg)
|
rs1043083798
|
|
|
NM_002863.5(PYGL):c.660+16G>A
|
|
|
|
NM_002863.5(PYGL):c.728G>A (p.Arg243His)
|
rs1445713979
|
|
|
NM_002863.5(PYGL):c.749C>T (p.Pro250Leu)
|
rs1472614445
|
|
|
NM_002863.5(PYGL):c.772+5G>T
|
rs2050494485
|
|
|
NM_002863.5(PYGL):c.865G>A (p.Gly289Arg)
|
rs2139174321
|
|
|
NM_003384.3(VRK1):c.1000A>G (p.Lys334Glu)
|
rs1261157260
|
|
|
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly)
|
rs1888350254
|
|
|
NM_003384.3(VRK1):c.1004A>T (p.Asp335Val)
|
rs1888350254
|
|
|
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg)
|
rs779911846
|
|
|
NM_003384.3(VRK1):c.1024_1025delinsCC (p.Ser342Pro)
|
rs1566713262
|
|
|
NM_003384.3(VRK1):c.1035G>T (p.Glu345Asp)
|
|
|
|
NM_003384.3(VRK1):c.1066A>G (p.Lys356Glu)
|
|
|
|
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met)
|
rs1595691552
|
|
|
NM_003384.3(VRK1):c.1096A>G (p.Lys366Glu)
|
|
|
|
NM_003384.3(VRK1):c.109T>A (p.Trp37Arg)
|
rs2139748832
|
|
|
NM_003384.3(VRK1):c.1103C>G (p.Pro368Arg)
|
rs1470768259
|
|
|
NM_003384.3(VRK1):c.1106G>C (p.Gly369Ala)
|
rs1168205465
|
|
|
NM_003384.3(VRK1):c.1117A>C (p.Thr373Pro)
|
rs199759408
|
|
|
NM_003384.3(VRK1):c.1123T>C (p.Trp375Arg)
|
rs1595691599
|
|
|
NM_003384.3(VRK1):c.1160-2A>G
|
rs199916225
|
|
|
NM_003384.3(VRK1):c.1160-5T>C
|
rs2139857584
|
|
|
NM_003384.3(VRK1):c.1171A>G (p.Arg391Gly)
|
|
|
|
NM_003384.3(VRK1):c.1172G>C (p.Arg391Thr)
|
|
|
|
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs)
|
rs749258908
|
|
|
NM_003384.3(VRK1):c.133C>A (p.Gln45Lys)
|
|
|
|
NM_003384.3(VRK1):c.184G>A (p.Val62Ile)
|
rs1555360117
|
|
|
NM_003384.3(VRK1):c.197C>T (p.Ala66Val)
|
|
|
|
NM_003384.3(VRK1):c.217-3A>G
|
rs1009112116
|
|
|
NM_003384.3(VRK1):c.221C>G (p.Pro74Arg)
|
|
|
|
NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)
|
|
|
|
NM_003384.3(VRK1):c.238C>G (p.Leu80Val)
|
rs2139779081
|
|
|
NM_003384.3(VRK1):c.247G>A (p.Glu83Lys)
|
rs2139779137
|
|
|
NM_003384.3(VRK1):c.284A>C (p.Gln95Pro)
|
rs1887677369
|
|
|
NM_003384.3(VRK1):c.291G>T (p.Gln97His)
|
|
|
|
NM_003384.3(VRK1):c.323T>C (p.Leu108Pro)
|
|
|
|
NM_003384.3(VRK1):c.373A>G (p.Ser125Gly)
|
rs1887746110
|
|
|
NM_003384.3(VRK1):c.379A>T (p.Arg127Trp)
|
rs1888003676
|
|
|
NM_003384.3(VRK1):c.388A>T (p.Ile130Leu)
|
|
|
|
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu)
|
rs764788560
|
|
|
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu)
|
rs1888005284
|
|
|
NM_003384.3(VRK1):c.469C>T (p.Leu157=)
|
|
|
|
NM_003384.3(VRK1):c.46A>G (p.Lys16Glu)
|
rs763034734
|
|
|
NM_003384.3(VRK1):c.476T>C (p.Leu159Ser)
|
rs888338488
|
|
|
NM_003384.3(VRK1):c.483T>A (p.Ile161=)
|
rs1888008625
|
|
|
NM_003384.3(VRK1):c.494T>C (p.Leu165Pro)
|
rs1888014947
|
|
|
NM_003384.3(VRK1):c.512A>G (p.His171Arg)
|
|
|
|
NM_003384.3(VRK1):c.526G>A (p.Gly176Arg)
|
rs888762581
|
|
|
NM_003384.3(VRK1):c.529_534dup (p.Asp177_Ile178dup)
|
rs2139796397
|
|
|
NM_003384.3(VRK1):c.536A>G (p.Lys179Arg)
|
rs1566708080
|
|
|
NM_003384.3(VRK1):c.544A>C (p.Asn182His)
|
rs745552947
|
|
|
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del)
|
rs774219368
|
|
|
NM_003384.3(VRK1):c.551T>A (p.Leu184His)
|
rs1888017746
|
|
|
NM_003384.3(VRK1):c.571G>A (p.Asp191Asn)
|
|
|
|
NM_003384.3(VRK1):c.585G>C (p.Leu195Phe)
|
rs748878251
|
|
|
NM_003384.3(VRK1):c.586G>C (p.Val196Leu)
|
rs372089106
|
|
|
NM_003384.3(VRK1):c.608G>A (p.Arg203Gln)
|
|
|
|
NM_003384.3(VRK1):c.616C>T (p.Pro206Ser)
|
|
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
|
NM_003384.3(VRK1):c.668G>A (p.Gly223Asp)
|
rs1555361508
|
|
|
NM_003384.3(VRK1):c.668G>T (p.Gly223Val)
|
rs1555361508
|
|
|
NM_003384.3(VRK1):c.673A>G (p.Ile225Val)
|
|
|
|
NM_003384.3(VRK1):c.692A>G (p.Asp231Gly)
|
rs757917768
|
|
|
NM_003384.3(VRK1):c.694G>T (p.Ala232Ser)
|
rs2139802156
|
|
|
NM_003384.3(VRK1):c.740T>C (p.Leu247Pro)
|
rs1478722226
|
|
|
NM_003384.3(VRK1):c.750C>G (p.Cys250Trp)
|
rs1888144387
|
|
|
NM_003384.3(VRK1):c.758A>G (p.Gln253Arg)
|
rs768822328
|
|
|
NM_003384.3(VRK1):c.767C>T (p.Thr256Ile)
|
|
|
|
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser)
|
rs1064797191
|
|
|
NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe)
|
rs1566696565
|
|
|
NM_003384.3(VRK1):c.805A>G (p.Lys269Glu)
|
rs1888147421
|
|
|
NM_003384.3(VRK1):c.817G>C (p.Asp273His)
|
rs1595677216
|
|
|
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)
|
rs541660707
|
|
|
NM_003384.3(VRK1):c.8G>A (p.Arg3His)
|
rs902439355
|
|
|
NM_003384.3(VRK1):c.925C>G (p.Leu309Val)
|
|
|
|
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu)
|
rs761494436
|
|
|
NM_003384.3(VRK1):c.962G>A (p.Arg321His)
|
rs200927943
|
|
|
NM_003384.3(VRK1):c.967A>G (p.Ile323Val)
|
rs754315181
|
|
|
NM_003384.3(VRK1):c.971T>G (p.Leu324Arg)
|
rs2139814873
|
|
|
NM_003384.3(VRK1):c.998G>A (p.Ser333Asn)
|
|
|
|
NM_004130.4(GYG1):c.1016ACA[1] (p.Asn340del)
|
rs1368197366
|
|
|
NM_004130.4(GYG1):c.1036G>T (p.Asp346Tyr)
|
|
|
|
NM_004130.4(GYG1):c.1039A>G (p.Thr347Ala)
|
rs759064665
|
|
|
NM_004130.4(GYG1):c.112C>T (p.Leu38Phe)
|
|
|
|
NM_004130.4(GYG1):c.115G>A (p.Ala39Thr)
|
|
|
|
NM_004130.4(GYG1):c.143+3G>T
|
|
|
|
NM_004130.4(GYG1):c.160G>T (p.Val54Phe)
|
|
|
|
NM_004130.4(GYG1):c.179T>C (p.Met60Thr)
|
rs2107886926
|
|
|
NM_004130.4(GYG1):c.203A>G (p.Asp68Gly)
|
rs1712787449
|
|
|
NM_004130.4(GYG1):c.248C>G (p.Thr83Arg)
|
rs267606858
|
|
|
NM_004130.4(GYG1):c.251T>C (p.Leu84Pro)
|
|
|
|
NM_004130.4(GYG1):c.25C>G (p.Leu9Val)
|
rs111907916
|
|
|
NM_004130.4(GYG1):c.272C>T (p.Ser91Leu)
|
|
|
|
NM_004130.4(GYG1):c.318+6T>A
|
|
|
|
NM_004130.4(GYG1):c.332T>C (p.Ile111Thr)
|
|
|
|
NM_004130.4(GYG1):c.337G>C (p.Asp113His)
|
rs968503138
|
|
|
NM_004130.4(GYG1):c.339T>A (p.Asp113Glu)
|
rs781200988
|
|
|
NM_004130.4(GYG1):c.36C>G (p.Asn12Lys)
|
rs761710847
|
|
|
NM_004130.4(GYG1):c.370C>T (p.Pro124Ser)
|
rs1712821278
|
|
|
NM_004130.4(GYG1):c.425C>T (p.Ser142Leu)
|
rs1576538459
|
|
|
NM_004130.4(GYG1):c.440A>G (p.Asn147Ser)
|
|
|
|
NM_004130.4(GYG1):c.442C>A (p.Gln148Lys)
|
|
|
|
NM_004130.4(GYG1):c.452A>G (p.His151Arg)
|
rs35054019
|
|
|
NM_004130.4(GYG1):c.482G>A (p.Gly161Asp)
|
|
|
|
NM_004130.4(GYG1):c.487G>A (p.Asp163Asn)
|
rs2107902685
|
|
|
NM_004130.4(GYG1):c.491A>G (p.Gln164Arg)
|
|
|
|
NM_004130.4(GYG1):c.529A>G (p.Thr177Ala)
|
|
|
|
NM_004130.4(GYG1):c.533A>T (p.Asp178Val)
|
rs752987232
|
|
|
NM_004130.4(GYG1):c.56C>T (p.Ala19Val)
|
|
|
|
NM_004130.4(GYG1):c.590A>G (p.Tyr197Cys)
|
|
|
|
NM_004130.4(GYG1):c.599C>T (p.Ala200Val)
|
|
|
|
NM_004130.4(GYG1):c.5C>G (p.Thr2Arg)
|
|
|
|
NM_004130.4(GYG1):c.607G>A (p.Val203Met)
|
|
|
|
NM_004130.4(GYG1):c.647G>A (p.Arg216Gln)
|
rs1035133767
|
|
|
NM_004130.4(GYG1):c.662A>C (p.Asn221Thr)
|
rs1412348949
|
|
|
NM_004130.4(GYG1):c.668C>T (p.Thr223Ile)
|
|
|
|
NM_004130.4(GYG1):c.750G>T (p.Trp250Cys)
|
|
|
|
NM_004130.4(GYG1):c.752A>T (p.Asn251Ile)
|
|
|
|
NM_004130.4(GYG1):c.764C>T (p.Thr255Ile)
|
rs2107921962
|
|
|
NM_004130.4(GYG1):c.769G>A (p.Val257Ile)
|
|
|
|
NM_004130.4(GYG1):c.814T>C (p.Ser272Pro)
|
|
|
|
NM_004130.4(GYG1):c.815C>T (p.Ser272Leu)
|
rs1226277771
|
|
|
NM_004130.4(GYG1):c.820G>A (p.Val274Ile)
|
|
|
|
NM_004130.4(GYG1):c.851T>G (p.Leu284Arg)
|
|
|
|
NM_004130.4(GYG1):c.865G>A (p.Gly289Ser)
|
rs1167301212
|
|
|
NM_004130.4(GYG1):c.875G>C (p.Arg292Thr)
|
|
|
|
NM_004130.4(GYG1):c.880G>C (p.Glu294Gln)
|
|
|
|
NM_004130.4(GYG1):c.883G>A (p.Asp295Asn)
|
rs202085215
|
|
|
NM_004130.4(GYG1):c.890C>T (p.Ser297Leu)
|
rs2107924774
|
|
|
NM_004130.4(GYG1):c.896C>T (p.Ala299Val)
|
|
|
|
NM_004130.4(GYG1):c.901T>C (p.Ser301Pro)
|
|
|
|
NM_004130.4(GYG1):c.916G>T (p.Gly306Trp)
|
|
|
|
NM_004130.4(GYG1):c.933G>A (p.Met311Ile)
|
rs2107924879
|
|
|
NM_004130.4(GYG1):c.934_942del (p.Ala312_Pro314del)
|
|
|
|
NM_004130.4(GYG1):c.953C>T (p.Ser318Leu)
|
|
|
|
NM_004130.4(GYG1):c.962G>A (p.Arg321Gln)
|
rs566702762
|
|
|
NM_004130.4(GYG1):c.971G>A (p.Arg324Gln)
|
|
|
|
NM_004130.4(GYG1):c.98_100delinsATT (p.Arg33_Arg34delinsAsnTrp)
|
rs2107884534
|
|
|
NM_005271.5(GLUD1):c.1006A>G (p.Ser336Gly)
|
|
|
|
NM_005271.5(GLUD1):c.1078_1079insAGTCCATTCTGG (p.Leu359_Gly360insGluSerIleLeu)
|
rs1845910499
|
|
|
NM_005271.5(GLUD1):c.107A>G (p.Gln36Arg)
|
|
|
|
NM_005271.5(GLUD1):c.1132A>G (p.Ile378Val)
|
rs1589358775
|
|
|
NM_005271.5(GLUD1):c.1175A>G (p.Asn392Ser)
|
|
|
|
NM_005271.5(GLUD1):c.1197+5C>A
|
|
|
|
NM_005271.5(GLUD1):c.1198-11CT[2]
|
rs753448342
|
|
|
NM_005271.5(GLUD1):c.122_148del (p.Pro41_Ala49del)
|
|
|
|
NM_005271.5(GLUD1):c.1249T>A (p.Phe417Ile)
|
rs2133794123
|
|
|
NM_005271.5(GLUD1):c.1358G>A (p.Arg453His)
|
|
|
|
NM_005271.5(GLUD1):c.1442A>T (p.His481Leu)
|
rs1169592069
|
|
|
NM_005271.5(GLUD1):c.1466C>T (p.Pro489Leu)
|
rs2133788907
|
|
|
NM_005271.5(GLUD1):c.1479C>A (p.Phe493Leu)
|
rs2133788865
|
|
|
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser)
|
rs121909733
|
|
|
NM_005271.5(GLUD1):c.1558-5T>A
|
|
|
|
NM_005271.5(GLUD1):c.1637T>C (p.Val546Ala)
|
rs2133773089
|
|
|
NM_005271.5(GLUD1):c.178C>A (p.Arg60Ser)
|
|
|
|
NM_005271.5(GLUD1):c.203A>G (p.Lys68Arg)
|
|
|
|
NM_005271.5(GLUD1):c.212A>C (p.Glu71Ala)
|
|
|
|
NM_005271.5(GLUD1):c.247G>A (p.Asp83Asn)
|
|
|
|
NM_005271.5(GLUD1):c.307C>G (p.Arg103Gly)
|
|
|
|
NM_005271.5(GLUD1):c.37C>T (p.Arg13Trp)
|
|
|
|
NM_005271.5(GLUD1):c.3G>A (p.Met1Ile)
|
rs1294286511
|
|
|
NM_005271.5(GLUD1):c.415C>T (p.His139Tyr)
|
rs2133873984
|
|
|
NM_005271.5(GLUD1):c.452G>C (p.Arg151Pro)
|
rs777627931
|
|
|
NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)
|
|
|
|
NM_005271.5(GLUD1):c.655A>G (p.Ile219Val)
|
|
|
|
NM_005271.5(GLUD1):c.803G>A (p.Arg268His)
|
|
|
|
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys)
|
rs121909736
|
|
|
NM_005271.5(GLUD1):c.953G>C (p.Arg318Thr)
|
rs121909736
|
|
|
NM_005271.5(GLUD1):c.955T>A (p.Tyr319Asn)
|
|
|
|
NM_005271.5(GLUD1):c.962A>G (p.His321Arg)
|
|
|
|
NM_005327.7(HADH):c.100G>A (p.Gly34Ser)
|
rs779135938
|
|
|
NM_005327.7(HADH):c.106G>C (p.Gly36Arg)
|
rs994692222
|
|
|
NM_005327.7(HADH):c.134T>C (p.Val45Ala)
|
|
|
|
NM_005327.7(HADH):c.220C>T (p.Leu74Phe)
|
rs1735422340
|
|
|
NM_005327.7(HADH):c.235AAG[2] (p.Lys81del)
|
rs763318550
|
|
|
NM_005327.7(HADH):c.243G>T (p.Lys81Asn)
|
|
|
|
NM_005327.7(HADH):c.311C>T (p.Thr104Met)
|
|
|
|
NM_005327.7(HADH):c.316G>A (p.Ala106Thr)
|
|
|
|
NM_005327.7(HADH):c.32C>T (p.Ser11Phe)
|
|
|
|
NM_005327.7(HADH):c.380A>G (p.Lys127Arg)
|
rs1735626197
|
|
|
NM_005327.7(HADH):c.388C>T (p.Leu130Phe)
|
|
|
|
NM_005327.7(HADH):c.420A>T (p.Glu140Asp)
|
|
|
|
NM_005327.7(HADH):c.422A>G (p.His141Arg)
|
|
|
|
NM_005327.7(HADH):c.427A>G (p.Ile143Val)
|
|
|
|
NM_005327.7(HADH):c.443C>T (p.Thr148Ile)
|
|
|
|
NM_005327.7(HADH):c.497T>A (p.Phe166Tyr)
|
|
|
|
NM_005327.7(HADH):c.50C>T (p.Thr17Ile)
|
|
|
|
NM_005327.7(HADH):c.533T>A (p.Met178Lys)
|
|
|
|
NM_005327.7(HADH):c.643C>T (p.Pro215Ser)
|
rs140413151
|
|
|
NM_005327.7(HADH):c.705A>C (p.Glu235Asp)
|
|
|
|
NM_005327.7(HADH):c.715G>T (p.Ala239Ser)
|
rs746680125
|
|
|
NM_005327.7(HADH):c.725A>G (p.Glu242Gly)
|
rs1736337186
|
|
|
NM_005327.7(HADH):c.740C>T (p.Ala247Val)
|
rs1736337431
|
|
|
NM_005327.7(HADH):c.805A>G (p.Thr269Ala)
|
rs1736341112
|
|
|
NM_005327.7(HADH):c.806C>G (p.Thr269Ser)
|
rs754403207
|
|
|
NM_005327.7(HADH):c.825T>C (p.Asp275=)
|
|
|
|
NM_005327.7(HADH):c.832C>T (p.His278Tyr)
|
|
|
|
NM_005327.7(HADH):c.875C>T (p.Ser292Phe)
|
|
|
|
NM_005327.7(HADH):c.8T>C (p.Phe3Ser)
|
rs2126215379
|
|
|
NM_005327.7(HADH):c.906C>G (p.Phe302Leu)
|
|
|
|
NM_005566.4(LDHA):c.117C>G (p.Ile39Met)
|
rs756599511
|
|
|
NM_005566.4(LDHA):c.121A>G (p.Met41Val)
|
|
|
|
NM_005566.4(LDHA):c.126+3_126+6del
|
rs776715682
|
|
|
NM_005566.4(LDHA):c.126G>A (p.Lys42=)
|
|
|
|
NM_005566.4(LDHA):c.170A>G (p.Lys57Arg)
|
rs2134021578
|
|
|
NM_005566.4(LDHA):c.189G>A (p.Met63Ile)
|
|
|
|
NM_005566.4(LDHA):c.269A>G (p.Lys90Arg)
|
|
|
|
NM_005566.4(LDHA):c.280A>T (p.Ile94Phe)
|
|
|
|
NM_005566.4(LDHA):c.308G>A (p.Gly103Glu)
|
|
|
|
NM_005566.4(LDHA):c.334C>T (p.Arg112Cys)
|
|
|
|
NM_005566.4(LDHA):c.340G>A (p.Val114Met)
|
|
|
|
NM_005566.4(LDHA):c.369TGT[1] (p.Val125del)
|
|
|
|
NM_005566.4(LDHA):c.386C>G (p.Pro129Arg)
|
|
|
|
NM_005566.4(LDHA):c.386C>T (p.Pro129Leu)
|
|
|
|
NM_005566.4(LDHA):c.396G>T (p.Lys132Asn)
|
|
|
|
NM_005566.4(LDHA):c.416C>T (p.Pro139Leu)
|
|
|
|
NM_005566.4(LDHA):c.436G>A (p.Val146Met)
|
|
|
|
NM_005566.4(LDHA):c.445A>G (p.Lys149Glu)
|
|
|
|
NM_005566.4(LDHA):c.460C>T (p.Pro154Ser)
|
|
|
|
NM_005566.4(LDHA):c.470G>A (p.Arg157His)
|
rs368815124
|
|
|
NM_005566.4(LDHA):c.484G>A (p.Gly162Ser)
|
|
|
|
NM_005566.4(LDHA):c.493C>A (p.Leu165Met)
|
|
|
|
NM_005566.4(LDHA):c.52A>G (p.Thr18Ala)
|
|
|
|
NM_005566.4(LDHA):c.53C>G (p.Thr18Ser)
|
|
|
|
NM_005566.4(LDHA):c.53C>T (p.Thr18Ile)
|
|
|
|
NM_005566.4(LDHA):c.592+7A>G
|
rs770770614
|
|
|
NM_005566.4(LDHA):c.710+5T>C
|
|
|
|
NM_005566.4(LDHA):c.711-3C>T
|
|
|
|
NM_005566.4(LDHA):c.764_765del (p.Ser255fs)
|
rs779893062
|
|
|
NM_005566.4(LDHA):c.766G>A (p.Val256Ile)
|
|
|
|
NM_005566.4(LDHA):c.7A>G (p.Thr3Ala)
|
|
|
|
NM_005566.4(LDHA):c.803G>A (p.Arg268Lys)
|
|
|
|
NM_005566.4(LDHA):c.808G>T (p.Val270Leu)
|
|
|
|
NM_005566.4(LDHA):c.821C>T (p.Ser274Phe)
|
|
|
|
NM_005566.4(LDHA):c.824C>T (p.Thr275Ile)
|
|
|
|
NM_005566.4(LDHA):c.83T>C (p.Val28Ala)
|
|
|
|
NM_005566.4(LDHA):c.854A>T (p.Asp285Val)
|
|
|
|
NM_005566.4(LDHA):c.925A>C (p.Thr309Pro)
|
rs1866719004
|
|
|
NM_005566.4(LDHA):c.941C>T (p.Ala314Val)
|
|
|
|
NM_005566.4(LDHA):c.943C>T (p.Arg315Cys)
|
|
|
|
NM_005566.4(LDHA):c.975G>T (p.Gly325=)
|
rs1866722555
|
|
|
NM_005609.4(PYGM):c.1000G>A (p.Val334Met)
|
|
|
|
NM_005609.4(PYGM):c.1001T>C (p.Val334Ala)
|
|
|
|
NM_005609.4(PYGM):c.1027C>T (p.Pro343Ser)
|
|
|
|
NM_005609.4(PYGM):c.1055G>A (p.Arg352Lys)
|
|
|
|
NM_005609.4(PYGM):c.1076G>A (p.Arg359Gln)
|
|
|
|
NM_005609.4(PYGM):c.1126A>G (p.Thr376Ala)
|
rs1592411804
|
|
|
NM_005609.4(PYGM):c.1134C>A (p.His378Gln)
|
rs2135834122
|
|
|
NM_005609.4(PYGM):c.1142T>C (p.Leu381Pro)
|
rs1156945983
|
|
|
NM_005609.4(PYGM):c.1166C>A (p.Pro389Gln)
|
rs149649134
|
|
|
NM_005609.4(PYGM):c.1173C>A (p.His391Gln)
|
|
|
|
NM_005609.4(PYGM):c.1198C>T (p.His400Tyr)
|
rs2058375583
|
|
|
NM_005609.4(PYGM):c.1205A>C (p.Gln402Pro)
|
rs2135833836
|
|
|
NM_005609.4(PYGM):c.121G>A (p.Val41Ile)
|
|
|
|
NM_005609.4(PYGM):c.1220T>C (p.Ile407Thr)
|
|
|
|
NM_005609.4(PYGM):c.1228C>T (p.Arg410Cys)
|
|
|
|
NM_005609.4(PYGM):c.1240C>T (p.Arg414Trp)
|
|
|
|
NM_005609.4(PYGM):c.1252G>A (p.Ala418Thr)
|
|
|
|
NM_005609.4(PYGM):c.1264G>A (p.Asp422Asn)
|
|
|
|
NM_005609.4(PYGM):c.1273C>T (p.Arg425Trp)
|
rs577821154
|
|
|
NM_005609.4(PYGM):c.1274G>A (p.Arg425Gln)
|
rs368608057
|
|
|
NM_005609.4(PYGM):c.1298AGG[1] (p.Glu434del)
|
|
|
|
NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr)
|
|
|
|
NM_005609.4(PYGM):c.130C>T (p.Arg44Cys)
|
|
|
|
NM_005609.4(PYGM):c.1328C>T (p.Ala443Val)
|
|
|
|
NM_005609.4(PYGM):c.134A>G (p.Asn45Ser)
|
|
|
|
NM_005609.4(PYGM):c.1354_1355delinsAT (p.Ala452Ile)
|
|
|
|
NM_005609.4(PYGM):c.1357G>T (p.Val453Phe)
|
|
|
|
NM_005609.4(PYGM):c.1369G>A (p.Ala457Thr)
|
|
|
|
NM_005609.4(PYGM):c.1379A>G (p.His460Arg)
|
rs2135832903
|
|
|
NM_005609.4(PYGM):c.1402A>G (p.Ile468Val)
|
|
|
|
NM_005609.4(PYGM):c.1404-20C>T
|
|
|
|
NM_005609.4(PYGM):c.1433A>G (p.His478Arg)
|
rs758131128
|
|
|
NM_005609.4(PYGM):c.1443G>C (p.Gln481His)
|
rs767125939
|
|
|
NM_005609.4(PYGM):c.1513G>T (p.Ala505Ser)
|
|
|
|
NM_005609.4(PYGM):c.1519C>T (p.Arg507Cys)
|
|
|
|
NM_005609.4(PYGM):c.1524C>G (p.Ile508Met)
|
|
|
|
NM_005609.4(PYGM):c.1533C>A (p.Asp511Glu)
|
|
|
|
NM_005609.4(PYGM):c.1568T>C (p.Leu523Pro)
|
|
|
|
NM_005609.4(PYGM):c.1600G>T (p.Asp534Tyr)
|
|
|
|
NM_005609.4(PYGM):c.1620+5G>T
|
rs2135831177
|
|
|
NM_005609.4(PYGM):c.1657G>A (p.Glu553Lys)
|
|
|
|
NM_005609.4(PYGM):c.1685C>T (p.Ser562Leu)
|
|
|
|
NM_005609.4(PYGM):c.1727G>A (p.Arg576Gln)
|
rs759218298
|
|
|
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
|
|
|
|
NM_005609.4(PYGM):c.1817T>C (p.Ile606Thr)
|
|
|
|
NM_005609.4(PYGM):c.181C>T (p.Arg61Cys)
|
rs1413461008
|
|
|
NM_005609.4(PYGM):c.1832C>T (p.Ala611Val)
|
|
|
|
NM_005609.4(PYGM):c.1904C>T (p.Pro635Leu)
|
|
|
|
NM_005609.4(PYGM):c.1915G>T (p.Asp639Tyr)
|
rs1592409000
|
|
|
NM_005609.4(PYGM):c.1919G>A (p.Arg640His)
|
|
|
|
NM_005609.4(PYGM):c.193G>C (p.Val65Leu)
|
|
|
|
NM_005609.4(PYGM):c.1975C>A (p.Pro659Thr)
|
|
|
|
NM_005609.4(PYGM):c.2020G>A (p.Ala674Thr)
|
rs2058348746
|
|
|
NM_005609.4(PYGM):c.2032G>C (p.Gly678Arg)
|
rs755716626
|
|
|
NM_005609.4(PYGM):c.208_210del (p.Arg70del)
|
|
|
|
NM_005609.4(PYGM):c.2116G>A (p.Glu706Lys)
|
|
|
|
NM_005609.4(PYGM):c.2123A>T (p.Asn708Ile)
|
|
|
|
NM_005609.4(PYGM):c.212C>G (p.Thr71Arg)
|
|
|
|
NM_005609.4(PYGM):c.2216T>C (p.Leu739Pro)
|
rs370144967
|
|
|
NM_005609.4(PYGM):c.2249T>G (p.Phe750Cys)
|
|
|
|
NM_005609.4(PYGM):c.2267C>T (p.Pro756Leu)
|
|
|
|
NM_005609.4(PYGM):c.2301G>C (p.Met767Ile)
|
|
|
|
NM_005609.4(PYGM):c.2306A>C (p.His769Pro)
|
|
|
|
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp)
|
rs369382075
|
|
|
NM_005609.4(PYGM):c.2345T>C (p.Ile782Thr)
|
|
|
|
NM_005609.4(PYGM):c.2367C>G (p.Ser789Arg)
|
rs750356895
|
|
|
NM_005609.4(PYGM):c.2368G>A (p.Ala790Thr)
|
|
|
|
NM_005609.4(PYGM):c.2373G>T (p.Leu791Phe)
|
rs2058315104
|
|
|
NM_005609.4(PYGM):c.2384C>A (p.Pro795Gln)
|
|
|
|
NM_005609.4(PYGM):c.2399G>A (p.Arg800Gln)
|
|
|
|
NM_005609.4(PYGM):c.2411G>A (p.Arg804Gln)
|
|
|
|
NM_005609.4(PYGM):c.2417T>C (p.Ile806Thr)
|
|
|
|
NM_005609.4(PYGM):c.2467C>T (p.Arg823Trp)
|
|
|
|
NM_005609.4(PYGM):c.2500C>G (p.Arg834Gly)
|
|
|
|
NM_005609.4(PYGM):c.2500C>T (p.Arg834Cys)
|
|
|
|
NM_005609.4(PYGM):c.2512C>G (p.Pro838Ala)
|
|
|
|
NM_005609.4(PYGM):c.2525T>A (p.Ile842Asn)
|
|
|
|
NM_005609.4(PYGM):c.345+17_345+18delinsAA
|
|
|
|
NM_005609.4(PYGM):c.345G>C (p.Gln115His)
|
rs2135840732
|
|
|
NM_005609.4(PYGM):c.358A>C (p.Met120Leu)
|
|
|
|
NM_005609.4(PYGM):c.359T>C (p.Met120Thr)
|
|
|
|
NM_005609.4(PYGM):c.391G>A (p.Gly131Arg)
|
rs2058409644
|
|
|
NM_005609.4(PYGM):c.458T>G (p.Leu153Arg)
|
rs2135840127
|
|
|
NM_005609.4(PYGM):c.46G>A (p.Val16Met)
|
|
|
|
NM_005609.4(PYGM):c.470G>A (p.Gly157Asp)
|
rs2058407754
|
|
|
NM_005609.4(PYGM):c.475G>C (p.Gly159Arg)
|
rs760654579
|
|
|
NM_005609.4(PYGM):c.50G>A (p.Arg17His)
|
|
|
|
NM_005609.4(PYGM):c.593C>T (p.Thr198Met)
|
|
|
|
NM_005609.4(PYGM):c.628A>T (p.Thr210Ser)
|
|
|
|
NM_005609.4(PYGM):c.691G>A (p.Val231Met)
|
|
|
|
NM_005609.4(PYGM):c.694C>G (p.Pro232Ala)
|
|
|
|
NM_005609.4(PYGM):c.710A>G (p.Asn237Ser)
|
|
|
|
NM_005609.4(PYGM):c.728G>A (p.Arg243His)
|
rs1312195500
|
|
|
NM_005609.4(PYGM):c.739G>A (p.Ala247Thr)
|
|
|
|
NM_005609.4(PYGM):c.781G>A (p.Gly261Ser)
|
|
|
|
NM_005609.4(PYGM):c.799G>C (p.Val267Leu)
|
|
|
|
NM_005609.4(PYGM):c.80A>G (p.Glu27Gly)
|
|
|
|
NM_005609.4(PYGM):c.828C>G (p.Ile276Met)
|
|
|
|
NM_005609.4(PYGM):c.833G>C (p.Arg278Pro)
|
rs775556109
|
|
|
NM_005609.4(PYGM):c.855+3G>T
|
|
|
|
NM_005609.4(PYGM):c.855T>G (p.Asn285Lys)
|
|
|
|
NM_005609.4(PYGM):c.889G>C (p.Glu297Gln)
|
|
|
|
NM_005609.4(PYGM):c.898G>A (p.Val300Met)
|
rs757387408
|
|
|
NM_005609.4(PYGM):c.898G>C (p.Val300Leu)
|
rs757387408
|
|
|
NM_005609.4(PYGM):c.932G>A (p.Arg311His)
|
|
|
|
NM_005609.4(PYGM):c.967G>T (p.Val323Leu)
|
rs770104418
|
|
|
NM_005609.4(PYGM):c.970C>G (p.Arg324Gly)
|
|
|
|
NM_005609.4(PYGM):c.977A>T (p.Asn326Ile)
|
|
|
|
NM_005609.4(PYGM):c.982G>C (p.Asp328His)
|
rs758682386
|
|
|
NM_005609.4(PYGM):c.988T>C (p.Phe330Leu)
|
|
|
|
NM_005908.4(MANBA):c.-13_112del (p.Met1fs)
|
|
|
|
NM_005908.4(MANBA):c.106G>A (p.Gly36Ser)
|
|
|
|
NM_005908.4(MANBA):c.1073T>C (p.Ile358Thr)
|
rs2110226355
|
|
|
NM_005908.4(MANBA):c.1097G>C (p.Arg366Pro)
|
|
|
|
NM_005908.4(MANBA):c.10C>T (p.His4Tyr)
|
|
|
|
NM_005908.4(MANBA):c.110C>T (p.Ser37Leu)
|
|
|
|
NM_005908.4(MANBA):c.1118G>A (p.Arg373Gln)
|
|
|
|
NM_005908.4(MANBA):c.1223G>T (p.Gly408Val)
|
|
|
|
NM_005908.4(MANBA):c.1230+12A>G
|
|
|
|
NM_005908.4(MANBA):c.1240G>A (p.Asp414Asn)
|
rs2110220981
|
|
|
NM_005908.4(MANBA):c.1247T>G (p.Met416Arg)
|
|
|
|
NM_005908.4(MANBA):c.1255T>C (p.Cys419Arg)
|
|
|
|
NM_005908.4(MANBA):c.130G>A (p.Val44Ile)
|
rs1432738569
|
|
|
NM_005908.4(MANBA):c.1352T>A (p.Ile451Lys)
|
|
|
|
NM_005908.4(MANBA):c.1376A>T (p.Glu459Val)
|
|
|
|
NM_005908.4(MANBA):c.1394A>G (p.Asn465Ser)
|
|
|
|
NM_005908.4(MANBA):c.1420C>T (p.Arg474Trp)
|
rs141230920
|
|
|
NM_005908.4(MANBA):c.1434C>G (p.Ile478Met)
|
|
|
|
NM_005908.4(MANBA):c.1517G>A (p.Ser506Asn)
|
|
|
|
NM_005908.4(MANBA):c.1550C>T (p.Ala517Val)
|
|
|
|
NM_005908.4(MANBA):c.1572T>C (p.Asn524=)
|
rs2110210086
|
|
|
NM_005908.4(MANBA):c.1589A>G (p.Asp530Gly)
|
|
|
|
NM_005908.4(MANBA):c.1649G>A (p.Arg550Gln)
|
rs745958233
|
|
|
NM_005908.4(MANBA):c.1679G>T (p.Trp560Leu)
|
|
|
|
NM_005908.4(MANBA):c.1696T>G (p.Leu566Val)
|
|
|
|
NM_005908.4(MANBA):c.169C>A (p.Leu57Met)
|
rs1349054936
|
|
|
NM_005908.4(MANBA):c.1726T>A (p.Ser576Thr)
|
|
|
|
NM_005908.4(MANBA):c.1754G>A (p.Arg585Gln)
|
rs200033515
|
|
|
NM_005908.4(MANBA):c.1754G>T (p.Arg585Leu)
|
rs200033515
|
|
|
NM_005908.4(MANBA):c.177+3A>G
|
rs2110217534
|
|
|
NM_005908.4(MANBA):c.177+4T>A
|
|
|
|
NM_005908.4(MANBA):c.178-3C>T
|
rs556686364
|
|
|
NM_005908.4(MANBA):c.1823G>A (p.Ser608Asn)
|
rs1730287301
|
|
|
NM_005908.4(MANBA):c.1829A>C (p.Asp610Ala)
|
|
|
|
NM_005908.4(MANBA):c.1830T>A (p.Asp610Glu)
|
|
|
|
NM_005908.4(MANBA):c.1838G>A (p.Arg613His)
|
|
|
|
NM_005908.4(MANBA):c.1838G>T (p.Arg613Leu)
|
|
|
|
NM_005908.4(MANBA):c.1850A>C (p.Asp617Ala)
|
|
|
|
NM_005908.4(MANBA):c.1894A>C (p.Thr632Pro)
|
|
|
|
NM_005908.4(MANBA):c.1904A>G (p.Glu635Gly)
|
|
|
|
NM_005908.4(MANBA):c.1915C>T (p.Arg639Cys)
|
|
|
|
NM_005908.4(MANBA):c.1942C>A (p.Gln648Lys)
|
|
|
|
NM_005908.4(MANBA):c.1945G>T (p.Gly649Trp)
|
rs1729796963
|
|
|
NM_005908.4(MANBA):c.194_214del (p.Phe65_Arg71del)
|
rs1300919851
|
|
|
NM_005908.4(MANBA):c.2018A>G (p.Tyr673Cys)
|
rs1729616711
|
|
|
NM_005908.4(MANBA):c.2042A>G (p.His681Arg)
|
|
|
|
NM_005908.4(MANBA):c.2102C>G (p.Thr701Arg)
|
rs2866413
|
|
|
NM_005908.4(MANBA):c.2144C>T (p.Ser715Leu)
|
|
|
|
NM_005908.4(MANBA):c.2167C>T (p.His723Tyr)
|
|
|
|
NM_005908.4(MANBA):c.2174G>C (p.Trp725Ser)
|
rs2110188789
|
|
|
NM_005908.4(MANBA):c.2176A>T (p.Ser726Cys)
|
|
|
|
NM_005908.4(MANBA):c.2201G>A (p.Arg734His)
|
rs143630504
|
|
|
NM_005908.4(MANBA):c.2201G>C (p.Arg734Pro)
|
|
|
|
NM_005908.4(MANBA):c.2282G>C (p.Cys761Ser)
|
rs538584064
|
|
|
NM_005908.4(MANBA):c.2311G>A (p.Val771Ile)
|
|
|
|
NM_005908.4(MANBA):c.2351C>T (p.Pro784Leu)
|
rs116340501
|
|
|
NM_005908.4(MANBA):c.2356A>G (p.Asn786Asp)
|
|
|
|
NM_005908.4(MANBA):c.2357A>G (p.Asn786Ser)
|
rs2110188500
|
|
|
NM_005908.4(MANBA):c.2363A>T (p.His788Leu)
|
rs2110188478
|
|
|
NM_005908.4(MANBA):c.239A>G (p.Tyr80Cys)
|
|
|
|
NM_005908.4(MANBA):c.2401A>C (p.Lys801Gln)
|
rs2110188388
|
|
|
NM_005908.4(MANBA):c.2405C>T (p.Ala802Val)
|
|
|
|
NM_005908.4(MANBA):c.242G>A (p.Ser81Asn)
|
rs372866446
|
|
|
NM_005908.4(MANBA):c.2471T>A (p.Val824Asp)
|
|
|
|
NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr)
|
rs182869272
|
|
|
NM_005908.4(MANBA):c.2489T>G (p.Leu830Trp)
|
rs1729412034
|
|
|
NM_005908.4(MANBA):c.2516T>G (p.Phe839Cys)
|
rs1382838664
|
|
|
NM_005908.4(MANBA):c.2536A>C (p.Met846Leu)
|
|
|
|
NM_005908.4(MANBA):c.2539A>C (p.Thr847Pro)
|
rs2110185461
|
|
|
NM_005908.4(MANBA):c.2544_2545del (p.Lys849fs)
|
rs749997217
|
|
|
NM_005908.4(MANBA):c.2551C>T (p.Arg851Ter)
|
rs200999022
|
|
|
NM_005908.4(MANBA):c.2561T>C (p.Leu854Ser)
|
|
|
|
NM_005908.4(MANBA):c.2630A>G (p.Asp877Gly)
|
rs752396515
|
|
|
NM_005908.4(MANBA):c.280C>A (p.Gln94Lys)
|
|
|
|
NM_005908.4(MANBA):c.295A>G (p.Ile99Val)
|
|
|
|
NM_005908.4(MANBA):c.308T>C (p.Val103Ala)
|
|
|
|
NM_005908.4(MANBA):c.37G>A (p.Gly13Ser)
|
|
|
|
NM_005908.4(MANBA):c.408C>G (p.Asp136Glu)
|
rs779626922
|
|
|
NM_005908.4(MANBA):c.415T>C (p.Ser139Pro)
|
|
|
|
NM_005908.4(MANBA):c.427C>T (p.Arg143Cys)
|
|
|
|
NM_005908.4(MANBA):c.440C>T (p.Ala147Val)
|
|
|
|
NM_005908.4(MANBA):c.475A>G (p.Thr159Ala)
|
rs2110193651
|
|
|
NM_005908.4(MANBA):c.482A>G (p.Tyr161Cys)
|
rs939522322
|
|
|
NM_005908.4(MANBA):c.484C>G (p.Gln162Glu)
|
|
|
|
NM_005908.4(MANBA):c.494C>T (p.Pro165Leu)
|
rs941610876
|
|
|
NM_005908.4(MANBA):c.520G>T (p.Gly174Cys)
|
rs2110193570
|
|
|
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln)
|
rs759103361
|
|
|
NM_005908.4(MANBA):c.55G>A (p.Ala19Thr)
|
|
|
|
NM_005908.4(MANBA):c.599G>C (p.Gly200Ala)
|
rs2110273623
|
|
|
NM_005908.4(MANBA):c.671A>G (p.Tyr224Cys)
|
|
|
|
NM_005908.4(MANBA):c.673+6C>A
|
|
|
|
NM_005908.4(MANBA):c.676A>G (p.Lys226Glu)
|
rs750030697
|
|
|
NM_005908.4(MANBA):c.683C>T (p.Ala228Val)
|
|
|
|
NM_005908.4(MANBA):c.767C>G (p.Pro256Arg)
|
|
|
|
NM_005908.4(MANBA):c.80G>A (p.Gly27Asp)
|
|
|
|
NM_005908.4(MANBA):c.811G>T (p.Gly271Trp)
|
|
|
|
NM_005908.4(MANBA):c.815A>G (p.Lys272Arg)
|
rs957064535
|
|
|
NM_005908.4(MANBA):c.908T>A (p.Met303Lys)
|
rs1171801333
|
|
|
NM_005908.4(MANBA):c.913G>A (p.Val305Ile)
|
rs939795867
|
|
|
NM_005908.4(MANBA):c.950A>C (p.Lys317Thr)
|
|
|
|
NM_005908.4(MANBA):c.952T>A (p.Ser318Thr)
|
|
|
|
NM_005908.4(MANBA):c.958A>C (p.Lys320Gln)
|
|
|
|
NM_005908.4(MANBA):c.973A>G (p.Thr325Ala)
|
|
|
|
NM_005908.4(MANBA):c.987A>G (p.Ile329Met)
|
|
|
|
NM_005908.4(MANBA):c.997A>G (p.Ile333Val)
|
|
|
|
NM_006765.4(TUSC3):c.116G>T (p.Gly39Val)
|
|
|
|
NM_006765.4(TUSC3):c.142C>A (p.Leu48Ile)
|
|
|
|
NM_006765.4(TUSC3):c.238C>G (p.Pro80Ala)
|
|
|
|
NM_006765.4(TUSC3):c.53G>A (p.Arg18Gln)
|
rs2129132447
|
|
|
NM_006765.4(TUSC3):c.581G>C (p.Arg194Thr)
|
|
|
|
NM_006765.4(TUSC3):c.670T>G (p.Phe224Val)
|
rs1807455847
|
|
|
NM_006765.4(TUSC3):c.85C>T (p.Leu29Phe)
|
|
|
|
NM_006765.4(TUSC3):c.863A>T (p.Asn288Ile)
|
|
|
|
NM_006765.4(TUSC3):c.868G>A (p.Ala290Thr)
|
|
|
|
NM_006859.4(LIAS):c.1037G>A (p.Gly346Asp)
|
rs1745057681
|
|
|
NM_006859.4(LIAS):c.1057T>C (p.Tyr353His)
|
rs1745058560
|
|
|
NM_006859.4(LIAS):c.1096A>C (p.Lys366Gln)
|
|
|
|
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs)
|
rs1560674852
|
|
|
NM_006859.4(LIAS):c.1112A>T (p.Asp371Val)
|
|
|
|
NM_006859.4(LIAS):c.1113C>A (p.Asp371Glu)
|
rs1745219682
|
|
|
NM_006859.4(LIAS):c.1114C>T (p.Leu372Phe)
|
rs2109893939
|
|
|
NM_006859.4(LIAS):c.11G>T (p.Arg4Leu)
|
rs1401099440
|
|
|
NM_006859.4(LIAS):c.120G>T (p.Gln40His)
|
rs1041843537
|
|
|
NM_006859.4(LIAS):c.152G>A (p.Gly51Asp)
|
rs1191295540
|
|
|
NM_006859.4(LIAS):c.158T>A (p.Leu53His)
|
rs2109868054
|
|
|
NM_006859.4(LIAS):c.15C>G (p.Cys5Trp)
|
rs1473782911
|
|
|
NM_006859.4(LIAS):c.163G>A (p.Asp55Asn)
|
rs1744463777
|
|
|
NM_006859.4(LIAS):c.170G>C (p.Ser57Thr)
|
|
|
|
NM_006859.4(LIAS):c.173C>A (p.Thr58Asn)
|
rs141723499
|
|
|
NM_006859.4(LIAS):c.17G>A (p.Gly6Glu)
|
rs1744293519
|
|
|
NM_006859.4(LIAS):c.191G>A (p.Gly64Glu)
|
|
|
|
NM_006859.4(LIAS):c.1A>C (p.Met1Leu)
|
rs776691180
|
|
|
NM_006859.4(LIAS):c.218+4A>G
|
rs1744469769
|
|
|
NM_006859.4(LIAS):c.222A>C (p.Leu74Phe)
|
|
|
|
NM_006859.4(LIAS):c.242A>G (p.Lys81Arg)
|
rs1744535027
|
|
|
NM_006859.4(LIAS):c.244A>G (p.Thr82Ala)
|
rs1560666276
|
|
|
NM_006859.4(LIAS):c.26C>T (p.Ala9Val)
|
|
|
|
NM_006859.4(LIAS):c.275A>C (p.Lys92Thr)
|
|
|
|
NM_006859.4(LIAS):c.287C>G (p.Thr96Ser)
|
|
|
|
NM_006859.4(LIAS):c.28C>T (p.Arg10Cys)
|
|
|
|
NM_006859.4(LIAS):c.292C>T (p.Arg98Trp)
|
rs796052702
|
|
|
NM_006859.4(LIAS):c.298T>A (p.Leu100Ile)
|
rs1744543385
|
|
|
NM_006859.4(LIAS):c.301A>G (p.Asn101Asp)
|
rs886043545
|
|
|
NM_006859.4(LIAS):c.312A>G (p.Thr104=)
|
rs749254524
|
|
|
NM_006859.4(LIAS):c.313G>A (p.Val105Ile)
|
rs775744955
|
|
|
NM_006859.4(LIAS):c.329G>T (p.Arg110Leu)
|
rs773238728
|
|
|
NM_006859.4(LIAS):c.32C>G (p.Thr11Ser)
|
|
|
|
NM_006859.4(LIAS):c.341T>C (p.Ile114Thr)
|
|
|
|
NM_006859.4(LIAS):c.359G>A (p.Gly120Asp)
|
rs1183607358
|
|
|
NM_006859.4(LIAS):c.359_364del (p.Gly120_Gly121del)
|
|
|
|
NM_006859.4(LIAS):c.35T>A (p.Leu12Gln)
|
rs1436660040
|
|
|
NM_006859.4(LIAS):c.391A>G (p.Met131Val)
|
rs1744633174
|
|
|
NM_006859.4(LIAS):c.393+6G>T
|
rs2109873076
|
|
|
NM_006859.4(LIAS):c.393G>A (p.Met131Ile)
|
rs2109873042
|
|
|
NM_006859.4(LIAS):c.394-6T>C
|
rs1744704251
|
|
|
NM_006859.4(LIAS):c.399G>A (p.Met133Ile)
|
rs774320280
|
|
|
NM_006859.4(LIAS):c.410G>A (p.Cys137Tyr)
|
|
|
|
NM_006859.4(LIAS):c.419G>A (p.Gly140Asp)
|
rs1578236671
|
|
|
NM_006859.4(LIAS):c.433T>A (p.Ser145Thr)
|
rs1196830198
|
|
|
NM_006859.4(LIAS):c.44G>C (p.Arg15Pro)
|
rs184218786
|
|
|
NM_006859.4(LIAS):c.465_466delinsTT (p.Asp156Tyr)
|
rs2109875370
|
|
|
NM_006859.4(LIAS):c.485A>G (p.Asn162Ser)
|
rs1744708957
|
|
|
NM_006859.4(LIAS):c.499A>G (p.Ile167Val)
|
|
|
|
NM_006859.4(LIAS):c.4T>C (p.Ser2Pro)
|
|
|
|
NM_006859.4(LIAS):c.50T>C (p.Phe17Ser)
|
rs751814381
|
|
|
NM_006859.4(LIAS):c.511G>A (p.Gly171Ser)
|
|
|
|
NM_006859.4(LIAS):c.512G>A (p.Gly171Asp)
|
rs2109875475
|
|
|
NM_006859.4(LIAS):c.515T>C (p.Leu172Pro)
|
rs2109875481
|
|
|
NM_006859.4(LIAS):c.548A>G (p.Asp183Gly)
|
rs906832972
|
|
|
NM_006859.4(LIAS):c.550+4A>G
|
rs1560668262
|
|
|
NM_006859.4(LIAS):c.552T>G (p.Asp184Glu)
|
rs1744715001
|
|
|
NM_006859.4(LIAS):c.566_567delinsTT (p.Gly189Val)
|
|
|
|
NM_006859.4(LIAS):c.56G>C (p.Arg19Thr)
|
rs1744443342
|
|
|
NM_006859.4(LIAS):c.58T>C (p.Tyr20His)
|
|
|
|
NM_006859.4(LIAS):c.592T>A (p.Ser198Thr)
|
rs1553934367
|
|
|
NM_006859.4(LIAS):c.595T>C (p.Tyr199His)
|
rs1744716622
|
|
|
NM_006859.4(LIAS):c.596A>G (p.Tyr199Cys)
|
|
|
|
NM_006859.4(LIAS):c.5C>G (p.Ser2Cys)
|
rs372288500
|
|
|
NM_006859.4(LIAS):c.5C>T (p.Ser2Phe)
|
|
|
|
NM_006859.4(LIAS):c.604G>A (p.Glu202Lys)
|
|
|
|
NM_006859.4(LIAS):c.619A>G (p.Ile207Val)
|
rs765961914
|
|
|
NM_006859.4(LIAS):c.632G>T (p.Cys211Phe)
|
|
|
|
NM_006859.4(LIAS):c.638C>T (p.Thr213Ile)
|
rs1268712461
|
|
|
NM_006859.4(LIAS):c.643G>A (p.Asp215Asn)
|
rs1560669433
|
|
|
NM_006859.4(LIAS):c.657T>A (p.Asp219Glu)
|
rs1021766315
|
|
|
NM_006859.4(LIAS):c.659T>C (p.Leu220Pro)
|
|
|
|
NM_006859.4(LIAS):c.673A>G (p.Lys225Glu)
|
|
|
|
NM_006859.4(LIAS):c.683T>C (p.Leu228Pro)
|
rs1553934545
|
|
|
NM_006859.4(LIAS):c.694G>C (p.Asp232His)
|
|
|
|
NM_006859.4(LIAS):c.701A>T (p.Tyr234Phe)
|
rs1475625272
|
|
|
NM_006859.4(LIAS):c.703G>C (p.Ala235Pro)
|
rs758964059
|
|
|
NM_006859.4(LIAS):c.708T>G (p.His236Gln)
|
rs1057524792
|
|
|
NM_006859.4(LIAS):c.709A>G (p.Asn237Asp)
|
rs778212967
|
|
|
NM_006859.4(LIAS):c.70C>G (p.Pro24Ala)
|
rs768692068
|
|
|
NM_006859.4(LIAS):c.725C>G (p.Pro242Arg)
|
|
|
|
NM_006859.4(LIAS):c.725C>T (p.Pro242Leu)
|
rs746107734
|
|
|
NM_006859.4(LIAS):c.73G>C (p.Val25Leu)
|
rs1744445711
|
|
|
NM_006859.4(LIAS):c.748G>A (p.Asp250Asn)
|
|
|
|
NM_006859.4(LIAS):c.770A>G (p.Gln257Arg)
|
|
|
|
NM_006859.4(LIAS):c.790C>T (p.His264Tyr)
|
|
|
|
NM_006859.4(LIAS):c.797A>G (p.Lys266Arg)
|
rs1560671038
|
|
|
NM_006859.4(LIAS):c.802G>A (p.Val268Ile)
|
rs371831096
|
|
|
NM_006859.4(LIAS):c.807G>T (p.Gln269His)
|
rs140846573
|
|
|
NM_006859.4(LIAS):c.817A>G (p.Ile273Val)
|
rs1744927078
|
|
|
NM_006859.4(LIAS):c.827C>T (p.Thr276Ile)
|
|
|
|
NM_006859.4(LIAS):c.832A>C (p.Ile278Leu)
|
rs528498907
|
|
|
NM_006859.4(LIAS):c.833T>C (p.Ile278Thr)
|
rs1744928054
|
|
|
NM_006859.4(LIAS):c.869A>T (p.Tyr290Phe)
|
rs1744929854
|
|
|
NM_006859.4(LIAS):c.880A>G (p.Lys294Glu)
|
rs1744930458
|
|
|
NM_006859.4(LIAS):c.883+6G>T
|
rs934916861
|
|
|
NM_006859.4(LIAS):c.884-3C>A
|
rs1207306697
|
|
|
NM_006859.4(LIAS):c.889C>T (p.Arg297Cys)
|
rs1744968434
|
|
|
NM_006859.4(LIAS):c.894G>C (p.Glu298Asp)
|
rs1744968826
|
|
|
NM_006859.4(LIAS):c.917T>C (p.Leu306Ser)
|
rs1744970129
|
|
|
NM_006859.4(LIAS):c.925T>C (p.Tyr309His)
|
|
|
|
NM_006859.4(LIAS):c.941G>C (p.Arg314Thr)
|
rs2109884619
|
|
|
NM_006859.4(LIAS):c.943C>T (p.Arg315Cys)
|
rs1397998638
|
|
|
NM_006859.4(LIAS):c.947A>G (p.His316Arg)
|
rs1578243031
|
|
|
NM_006859.4(LIAS):c.954+3A>G
|
rs2109884668
|
|
|
NM_006859.4(LIAS):c.955-3T>G
|
|
|
|
NM_012434.5(SLC17A5):c.1087G>A (p.Val363Ile)
|
rs2150091513
|
|
|
NM_012434.5(SLC17A5):c.10C>G (p.Pro4Ala)
|
|
|
|
NM_012434.5(SLC17A5):c.1141G>C (p.Ala381Pro)
|
|
|
|
NM_012434.5(SLC17A5):c.1153A>G (p.Ile385Val)
|
|
|
|
NM_012434.5(SLC17A5):c.1201A>G (p.Thr401Ala)
|
|
|
|
NM_012434.5(SLC17A5):c.1202C>T (p.Thr401Ile)
|
|
|
|
NM_012434.5(SLC17A5):c.1250T>C (p.Ile417Thr)
|
|
|
|
NM_012434.5(SLC17A5):c.1259+3G>A
|
|
|
|
NM_012434.5(SLC17A5):c.1260G>C (p.Ser420=)
|
rs760766672
|
|
|
NM_012434.5(SLC17A5):c.127G>A (p.Ala43Thr)
|
rs545973
|
|
|
NM_012434.5(SLC17A5):c.130A>G (p.Ile44Val)
|
|
|
|
NM_012434.5(SLC17A5):c.1349A>G (p.Asp450Gly)
|
|
|
|
NM_012434.5(SLC17A5):c.1352A>G (p.Asn451Ser)
|
|
|
|
NM_012434.5(SLC17A5):c.1355C>G (p.Thr452Ser)
|
|
|
|
NM_012434.5(SLC17A5):c.1369C>T (p.Gln457Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.1375G>A (p.Val459Met)
|
|
|
|
NM_012434.5(SLC17A5):c.1419C>G (p.Phe473Leu)
|
|
|
|
NM_012434.5(SLC17A5):c.1462_1464del (p.Asn488del)
|
|
|
|
NM_012434.5(SLC17A5):c.197A>G (p.Asp66Gly)
|
|
|
|
NM_012434.5(SLC17A5):c.229A>G (p.Asn77Asp)
|
|
|
|
NM_012434.5(SLC17A5):c.22C>G (p.Leu8Val)
|
|
|
|
NM_012434.5(SLC17A5):c.233G>C (p.Arg78Thr)
|
|
|
|
NM_012434.5(SLC17A5):c.262G>C (p.Ala88Pro)
|
|
|
|
NM_012434.5(SLC17A5):c.266C>A (p.Pro89His)
|
|
|
|
NM_012434.5(SLC17A5):c.275T>C (p.Val92Ala)
|
rs2150120727
|
|
|
NM_012434.5(SLC17A5):c.290C>T (p.Thr97Met)
|
|
|
|
NM_012434.5(SLC17A5):c.310G>A (p.Asp104Asn)
|
rs2150118480
|
|
|
NM_012434.5(SLC17A5):c.35A>G (p.Asp12Gly)
|
|
|
|
NM_012434.5(SLC17A5):c.36T>A (p.Asp12Glu)
|
|
|
|
NM_012434.5(SLC17A5):c.373C>T (p.Pro125Ser)
|
|
|
|
NM_012434.5(SLC17A5):c.388G>A (p.Ala130Thr)
|
rs201070520
|
|
|
NM_012434.5(SLC17A5):c.401G>T (p.Gly134Val)
|
|
|
|
NM_012434.5(SLC17A5):c.413T>C (p.Leu138Pro)
|
|
|
|
NM_012434.5(SLC17A5):c.421T>C (p.Phe141Leu)
|
|
|
|
NM_012434.5(SLC17A5):c.494T>C (p.Ile165Thr)
|
|
|
|
NM_012434.5(SLC17A5):c.505G>C (p.Ala169Pro)
|
|
|
|
NM_012434.5(SLC17A5):c.50C>T (p.Thr17Met)
|
rs2150128046
|
|
|
NM_012434.5(SLC17A5):c.512_514del (p.Glu171del)
|
rs2150118267
|
|
|
NM_012434.5(SLC17A5):c.525+3A>G
|
|
|
|
NM_012434.5(SLC17A5):c.544A>T (p.Met182Leu)
|
rs1454840237
|
|
|
NM_012434.5(SLC17A5):c.55C>T (p.Arg19Cys)
|
|
|
|
NM_012434.5(SLC17A5):c.578T>C (p.Leu193Pro)
|
|
|
|
NM_012434.5(SLC17A5):c.586A>G (p.Ser196Gly)
|
|
|
|
NM_012434.5(SLC17A5):c.590A>G (p.Lys197Arg)
|
|
|
|
NM_012434.5(SLC17A5):c.680C>A (p.Thr227Asn)
|
|
|
|
NM_012434.5(SLC17A5):c.680C>G (p.Thr227Ser)
|
rs2150113556
|
|
|
NM_012434.5(SLC17A5):c.758A>G (p.Gln253Arg)
|
|
|
|
NM_012434.5(SLC17A5):c.760A>G (p.Lys254Glu)
|
|
|
|
NM_012434.5(SLC17A5):c.776C>T (p.Ser259Phe)
|
rs149340734
|
|
|
NM_012434.5(SLC17A5):c.818A>G (p.Gln273Arg)
|
rs761959120
|
|
|
NM_012434.5(SLC17A5):c.880A>C (p.Ile294Leu)
|
|
|
|
NM_016042.4(EXOSC3):c.11C>T (p.Pro4Leu)
|
rs372128042
|
|
|
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser)
|
rs549030188
|
|
|
NM_016042.4(EXOSC3):c.155C>A (p.Pro52Gln)
|
|
|
|
NM_016042.4(EXOSC3):c.17C>T (p.Ser6Phe)
|
rs749691951
|
|
|
NM_016042.4(EXOSC3):c.221G>C (p.Cys74Ser)
|
|
|
|
NM_016042.4(EXOSC3):c.259C>A (p.Arg87Ser)
|
rs1404319370
|
|
|
NM_016042.4(EXOSC3):c.285CGG[2] (p.Gly98del)
|
|
|
|
NM_016042.4(EXOSC3):c.311C>A (p.Ser104Tyr)
|
|
|
|
NM_016042.4(EXOSC3):c.347A>G (p.His116Arg)
|
|
|
|
NM_016042.4(EXOSC3):c.352A>G (p.Ile118Val)
|
|
|
|
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met)
|
rs145622193
|
|
|
NM_016042.4(EXOSC3):c.368C>G (p.Ala123Gly)
|
rs2118980284
|
|
|
NM_016042.4(EXOSC3):c.377G>C (p.Gly126Ala)
|
|
|
|
NM_016042.4(EXOSC3):c.388A>C (p.Lys130Gln)
|
rs373193552
|
|
|
NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg)
|
rs1828647523
|
|
|
NM_016042.4(EXOSC3):c.491A>G (p.Tyr164Cys)
|
|
|
|
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
|
|
|
|
NM_016042.4(EXOSC3):c.5C>T (p.Ala2Val)
|
rs754046728
|
|
|
NM_016042.4(EXOSC3):c.61C>T (p.Arg21Cys)
|
|
|
|
NM_016042.4(EXOSC3):c.671T>A (p.Leu224His)
|
|
|
|
NM_016042.4(EXOSC3):c.674A>G (p.Tyr225Cys)
|
|
|
|
NM_016042.4(EXOSC3):c.680T>C (p.Leu227Pro)
|
|
|
|
NM_016042.4(EXOSC3):c.691T>G (p.Phe231Val)
|
|
|
|
NM_016042.4(EXOSC3):c.709A>G (p.Ile237Val)
|
rs140199968
|
|
|
NM_016042.4(EXOSC3):c.736_737delinsAC (p.Gln246Thr)
|
rs2118975671
|
|
|
NM_016042.4(EXOSC3):c.743T>C (p.Leu248Ser)
|
rs561283125
|
|
|
NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu)
|
rs767942736
|
|
|
NM_016042.4(EXOSC3):c.797A>G (p.Lys266Arg)
|
|
|
|
NM_016042.4(EXOSC3):c.7G>A (p.Glu3Lys)
|
|
|
|
NM_016042.4(EXOSC3):c.808_810del (p.Ser270del)
|
rs755175121
|
|
|
NM_016042.4(EXOSC3):c.813del (p.Arg271fs)
|
|
|
|
NM_016042.4(EXOSC3):c.822_*6del (p.Glu274fs)
|
rs1828567719
|
|
|
NM_016203.3(PRKAG2):c.1053_1067delGCTTTATTTACAAGA
|
rs1584964948
|
|
|
NM_016203.4(PRKAG2):c.1005+6T>C
|
rs1554464077
|
|
|
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile)
|
rs727504707
|
|
|
NM_016203.4(PRKAG2):c.1015T>A (p.Tyr339Asn)
|
rs1807867041
|
|
|
NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys)
|
rs2151024095
|
|
|
NM_016203.4(PRKAG2):c.1031A>G (p.His344Arg)
|
rs2151024054
|
|
|
NM_016203.4(PRKAG2):c.1040A>G (p.Glu347Gly)
|
rs760258924
|
|
|
NM_016203.4(PRKAG2):c.1049G>A (p.Arg350Lys)
|
rs1330644534
|
|
|
NM_016203.4(PRKAG2):c.1050G>A (p.Arg350=)
|
rs2151023937
|
|
|
NM_016203.4(PRKAG2):c.1051+6C>G
|
|
|
|
NM_016203.4(PRKAG2):c.1051_1051+2dup
|
rs2151023914
|
|
|
NM_016203.4(PRKAG2):c.1055T>C (p.Leu352Pro)
|
|
|
|
NM_016203.4(PRKAG2):c.1058A>G (p.Tyr353Cys)
|
rs1554459431
|
|
|
NM_016203.4(PRKAG2):c.1060T>G (p.Leu354Val)
|
rs1554459423
|
|
|
NM_016203.4(PRKAG2):c.1070C>T (p.Thr357Ile)
|
rs1227002684
|
|
|
NM_016203.4(PRKAG2):c.107A>G (p.His36Arg)
|
rs2080409943
|
|
|
NM_016203.4(PRKAG2):c.1100A>G (p.Asp367Gly)
|
rs1807219152
|
|
|
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser)
|
rs769212614
|
|
|
NM_016203.4(PRKAG2):c.1106+4A>C
|
rs912304170
|
|
|
NM_016203.4(PRKAG2):c.1107-3C>T
|
rs2151008803
|
|
|
NM_016203.4(PRKAG2):c.1108C>T (p.Leu370Phe)
|
|
|
|
NM_016203.4(PRKAG2):c.1114G>C (p.Asp372His)
|
rs760826751
|
|
|
NM_016203.4(PRKAG2):c.114+3G>A
|
rs2151920361
|
|
|
NM_016203.4(PRKAG2):c.114G>C (p.Pro38=)
|
rs397517261
|
|
|
NM_016203.4(PRKAG2):c.1164T>G (p.Ile388Met)
|
|
|
|
NM_016203.4(PRKAG2):c.1169C>T (p.Pro390Leu)
|
rs2151008453
|
|
|
NM_016203.4(PRKAG2):c.1183G>C (p.Ala395Pro)
|
|
|
|
NM_016203.4(PRKAG2):c.1184C>T (p.Ala395Val)
|
rs1806859703
|
|
|
NM_016203.4(PRKAG2):c.1198A>G (p.Thr400Ala)
|
rs1554457901
|
|
|
NM_016203.4(PRKAG2):c.119T>C (p.Leu40Pro)
|
|
|
|
NM_016203.4(PRKAG2):c.11C>T (p.Ala4Val)
|
rs2151920498
|
|
|
NM_016203.4(PRKAG2):c.1233+1G>C
|
|
|
|
NM_016203.4(PRKAG2):c.1247C>T (p.Pro416Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.125C>T (p.Ser42Phe)
|
|
|
|
NM_016203.4(PRKAG2):c.1279G>A (p.Glu427Lys)
|
rs1806121695
|
|
|
NM_016203.4(PRKAG2):c.1289T>C (p.Ile430Thr)
|
|
|
|
NM_016203.4(PRKAG2):c.1289T>G (p.Ile430Arg)
|
|
|
|
NM_016203.4(PRKAG2):c.1294A>G (p.Thr432Ala)
|
rs2150996293
|
|
|
NM_016203.4(PRKAG2):c.129C>A (p.Phe43Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.1306A>G (p.Ile436Val)
|
|
|
|
NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly)
|
rs762111172
|
|
|
NM_016203.4(PRKAG2):c.1319A>G (p.His440Arg)
|
rs1806111411
|
|
|
NM_016203.4(PRKAG2):c.1333A>G (p.Ile445Val)
|
rs1344209675
|
|
|
NM_016203.4(PRKAG2):c.1337T>G (p.Ile446Ser)
|
rs1554455087
|
|
|
NM_016203.4(PRKAG2):c.1340A>G (p.Lys447Arg)
|
|
|
|
NM_016203.4(PRKAG2):c.134T>A (p.Met45Lys)
|
|
|
|
NM_016203.4(PRKAG2):c.1355T>C (p.Phe452Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.1358T>C (p.Val453Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.1366C>G (p.Arg456Gly)
|
rs779098740
|
|
|
NM_016203.4(PRKAG2):c.1378C>G (p.Leu460Val)
|
rs878855018
|
|
|
NM_016203.4(PRKAG2):c.1392T>A (p.Asp464Glu)
|
rs2150995495
|
|
|
NM_016203.4(PRKAG2):c.1393G>A (p.Glu465Lys)
|
|
|
|
NM_016203.4(PRKAG2):c.1395_1396del (p.Glu465fs)
|
|
|
|
NM_016203.4(PRKAG2):c.1407_1408delinsGA (p.Val470Ile)
|
rs1806009426
|
|
|
NM_016203.4(PRKAG2):c.1420T>G (p.Ser474Ala)
|
rs1806007620
|
|
|
NM_016203.4(PRKAG2):c.1436T>C (p.Ile479Thr)
|
rs1806004431
|
|
|
NM_016203.4(PRKAG2):c.1437+6T>C
|
|
|
|
NM_016203.4(PRKAG2):c.1444G>A (p.Ala482Thr)
|
rs2150988951
|
|
|
NM_016203.4(PRKAG2):c.145G>A (p.Asp49Asn)
|
|
|
|
NM_016203.4(PRKAG2):c.1460A>G (p.Tyr487Cys)
|
rs1805709675
|
|
|
NM_016203.4(PRKAG2):c.1466del (p.Asn489fs)
|
rs1584934953
|
|
|
NM_016203.4(PRKAG2):c.1471G>C (p.Asp491His)
|
rs730880981
|
|
|
NM_016203.4(PRKAG2):c.1472A>G (p.Asp491Gly)
|
|
|
|
NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu)
|
rs761196275
|
|
|
NM_016203.4(PRKAG2):c.1480G>T (p.Val494Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.1498C>T (p.His500Tyr)
|
rs1584934806
|
|
|
NM_016203.4(PRKAG2):c.1534A>C (p.Asn512His)
|
|
|
|
NM_016203.4(PRKAG2):c.1535A>G (p.Asn512Ser)
|
rs766113743
|
|
|
NM_016203.4(PRKAG2):c.1535A>T (p.Asn512Ile)
|
rs766113743
|
|
|
NM_016203.4(PRKAG2):c.1545A>T (p.Glu515Asp)
|
rs2150988575
|
|
|
NM_016203.4(PRKAG2):c.154C>G (p.Leu52Val)
|
|
|
|
NM_016203.4(PRKAG2):c.1555A>G (p.Thr519Ala)
|
rs1060503024
|
|
|
NM_016203.4(PRKAG2):c.1564G>A (p.Asp522Asn)
|
rs199985555
|
|
|
NM_016203.4(PRKAG2):c.1565A>G (p.Asp522Gly)
|
rs2150988481
|
|
|
NM_016203.4(PRKAG2):c.1571T>G (p.Ile524Arg)
|
rs1563141020
|
|
|
NM_016203.4(PRKAG2):c.1574T>A (p.Val525Glu)
|
|
|
|
NM_016203.4(PRKAG2):c.157G>A (p.Glu53Lys)
|
|
|
|
NM_016203.4(PRKAG2):c.1584+3G>A
|
|
|
|
NM_016203.4(PRKAG2):c.1603G>A (p.Val535Ile)
|
|
|
|
NM_016203.4(PRKAG2):c.1615G>A (p.Asp539Asn)
|
rs1804709862
|
|
|
NM_016203.4(PRKAG2):c.1625T>C (p.Val542Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.1631T>C (p.Ile544Thr)
|
rs1804703888
|
|
|
NM_016203.4(PRKAG2):c.1639C>G (p.Leu547Val)
|
|
|
|
NM_016203.4(PRKAG2):c.1642T>A (p.Ser548Thr)
|
rs267606979
|
|
|
NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro)
|
rs267606979
|
|
|
NM_016203.4(PRKAG2):c.1663A>T (p.Ile555Phe)
|
rs1563131128
|
|
|
NM_016203.4(PRKAG2):c.1666C>G (p.Leu556Val)
|
|
|
|
NM_016203.4(PRKAG2):c.1678+5A>G
|
rs1804692531
|
|
|
NM_016203.4(PRKAG2):c.1679-1G>A
|
rs1563120287
|
|
|
NM_016203.4(PRKAG2):c.1681G>A (p.Ala561Thr)
|
rs61744760
|
|
|
NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro)
|
rs61744760
|
|
|
NM_016203.4(PRKAG2):c.1705G>A (p.Glu569Lys)
|
rs730880983
|
|
|
NM_016203.4(PRKAG2):c.1708T>G (p.Ter570Gly)
|
rs2150957786
|
|
|
NM_016203.4(PRKAG2):c.182G>T (p.Arg61Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.186+3A>G
|
|
|
|
NM_016203.4(PRKAG2):c.186+4A>C
|
|
|
|
NM_016203.4(PRKAG2):c.187G>A (p.Val63Met)
|
rs1288414866
|
|
|
NM_016203.4(PRKAG2):c.196C>T (p.Pro66Ser)
|
rs764915841
|
|
|
NM_016203.4(PRKAG2):c.1A>G (p.Met1Val)
|
|
|
|
NM_016203.4(PRKAG2):c.211A>C (p.Ser71Arg)
|
rs2151803809
|
|
|
NM_016203.4(PRKAG2):c.224G>A (p.Gly75Glu)
|
rs199963585
|
|
|
NM_016203.4(PRKAG2):c.233_234insTCC (p.Ser78_Arg79insPro)
|
|
|
|
NM_016203.4(PRKAG2):c.235A>G (p.Arg79Gly)
|
|
|
|
NM_016203.4(PRKAG2):c.238G>A (p.Gly80Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.245A>G (p.Gln82Arg)
|
rs368871685
|
|
|
NM_016203.4(PRKAG2):c.254C>A (p.Pro85His)
|
|
|
|
NM_016203.4(PRKAG2):c.254C>T (p.Pro85Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.263C>T (p.Pro88Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.269C>T (p.Ser90Phe)
|
rs2076657636
|
|
|
NM_016203.4(PRKAG2):c.26A>T (p.Lys9Met)
|
rs574029693
|
|
|
NM_016203.4(PRKAG2):c.314T>C (p.Val105Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.326_328del (p.Ser109del)
|
rs2076654551
|
|
|
NM_016203.4(PRKAG2):c.32A>T (p.Lys11Ile)
|
rs1060503025
|
|
|
NM_016203.4(PRKAG2):c.331C>G (p.Gln111Glu)
|
|
|
|
NM_016203.4(PRKAG2):c.335A>G (p.Glu112Gly)
|
rs1563659108
|
|
|
NM_016203.4(PRKAG2):c.341C>G (p.Pro114Arg)
|
rs375174733
|
|
|
NM_016203.4(PRKAG2):c.352C>T (p.Pro118Ser)
|
rs1554596200
|
|
|
NM_016203.4(PRKAG2):c.358C>T (p.Arg120Cys)
|
rs763144065
|
|
|
NM_016203.4(PRKAG2):c.359G>C (p.Arg120Pro)
|
rs775756069
|
|
|
NM_016203.4(PRKAG2):c.386C>T (p.Ser129Phe)
|
rs2151803284
|
|
|
NM_016203.4(PRKAG2):c.388del (p.Ser130fs)
|
|
|
|
NM_016203.4(PRKAG2):c.392C>T (p.Ser131Phe)
|
|
|
|
NM_016203.4(PRKAG2):c.406C>T (p.Pro136Ser)
|
rs1386603764
|
|
|
NM_016203.4(PRKAG2):c.416A>G (p.Asn139Ser)
|
rs1042047141
|
|
|
NM_016203.4(PRKAG2):c.424A>G (p.Thr142Ala)
|
rs2076650288
|
|
|
NM_016203.4(PRKAG2):c.43T>C (p.Ser15Pro)
|
rs1563775284
|
|
|
NM_016203.4(PRKAG2):c.44C>T (p.Ser15Phe)
|
|
|
|
NM_016203.4(PRKAG2):c.458C>G (p.Ser153Cys)
|
rs1586486518
|
|
|
NM_016203.4(PRKAG2):c.466+18T>C
|
|
|
|
NM_016203.4(PRKAG2):c.466+1G>A
|
rs1563658309
|
|
|
NM_016203.4(PRKAG2):c.466+1G>C
|
|
|
|
NM_016203.4(PRKAG2):c.466+6A>G
|
rs2076648193
|
|
|
NM_016203.4(PRKAG2):c.467-2A>T
|
rs1554531076
|
|
|
NM_016203.4(PRKAG2):c.469_471dup (p.Ser157dup)
|
rs1832797348
|
|
|
NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp)
|
rs1832796232
|
|
|
NM_016203.4(PRKAG2):c.477CTC[2] (p.Ser162del)
|
rs1002236859
|
|
|
NM_016203.4(PRKAG2):c.485C>T (p.Ser162Phe)
|
rs779526669
|
|
|
NM_016203.4(PRKAG2):c.52G>T (p.Gly18Cys)
|
|
|
|
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys)
|
rs397517273
|
|
|
NM_016203.4(PRKAG2):c.53del (p.Gly18fs)
|
|
|
|
NM_016203.4(PRKAG2):c.547G>C (p.Glu183Gln)
|
rs1131692281
|
|
|
NM_016203.4(PRKAG2):c.550C>G (p.Pro184Ala)
|
rs545533727
|
|
|
NM_016203.4(PRKAG2):c.557G>T (p.Arg186Leu)
|
rs145006140
|
|
|
NM_016203.4(PRKAG2):c.562G>A (p.Glu188Lys)
|
rs772303730
|
|
|
NM_016203.4(PRKAG2):c.562G>C (p.Glu188Gln)
|
rs772303730
|
|
|
NM_016203.4(PRKAG2):c.566A>G (p.Asn189Ser)
|
rs2151477098
|
|
|
NM_016203.4(PRKAG2):c.568C>A (p.Arg190Ser)
|
rs202200501
|
|
|
NM_016203.4(PRKAG2):c.568C>T (p.Arg190Cys)
|
|
|
|
NM_016203.4(PRKAG2):c.569G>T (p.Arg190Leu)
|
rs551795395
|
|
|
NM_016203.4(PRKAG2):c.583T>G (p.Ser195Ala)
|
rs2151477004
|
|
|
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg)
|
rs368637364
|
|
|
NM_016203.4(PRKAG2):c.593del (p.Pro198fs)
|
|
|
|
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs)
|
rs397517275
|
|
|
NM_016203.4(PRKAG2):c.602G>A (p.Gly201Glu)
|
rs1554530705
|
|
|
NM_016203.4(PRKAG2):c.619_636del (p.Ser207_Pro212del)
|
rs2151476689
|
|
|
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys)
|
rs397517277
|
|
|
NM_016203.4(PRKAG2):c.622T>A (p.Ser208Thr)
|
rs1554530665
|
|
|
NM_016203.4(PRKAG2):c.638C>T (p.Thr213Ile)
|
|
|
|
NM_016203.4(PRKAG2):c.641G>A (p.Arg214Lys)
|
rs781267213
|
|
|
NM_016203.4(PRKAG2):c.661A>G (p.Thr221Ala)
|
rs1832761436
|
|
|
NM_016203.4(PRKAG2):c.665A>G (p.His222Arg)
|
rs1289045435
|
|
|
NM_016203.4(PRKAG2):c.665A>T (p.His222Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.670G>A (p.Ala224Thr)
|
|
|
|
NM_016203.4(PRKAG2):c.682G>T (p.Ala228Ser)
|
rs2151476444
|
|
|
NM_016203.4(PRKAG2):c.684+1G>C
|
|
|
|
NM_016203.4(PRKAG2):c.685-3C>A
|
|
|
|
NM_016203.4(PRKAG2):c.685-6C>A
|
rs772481251
|
|
|
NM_016203.4(PRKAG2):c.686C>T (p.Ala229Val)
|
|
|
|
NM_016203.4(PRKAG2):c.689C>T (p.Ala230Val)
|
rs1554507908
|
|
|
NM_016203.4(PRKAG2):c.693GGC[4] (p.Ala234dup)
|
rs878855020
|
|
|
NM_016203.4(PRKAG2):c.695C>T (p.Ala232Val)
|
rs1338523761
|
|
|
NM_016203.4(PRKAG2):c.698C>A (p.Ala233Glu)
|
rs201240745
|
|
|
NM_016203.4(PRKAG2):c.698C>T (p.Ala233Val)
|
|
|
|
NM_016203.4(PRKAG2):c.706G>C (p.Gly236Arg)
|
rs1183522324
|
|
|
NM_016203.4(PRKAG2):c.709C>T (p.Pro237Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.715G>A (p.Glu239Lys)
|
rs1271179381
|
|
|
NM_016203.4(PRKAG2):c.717A>C (p.Glu239Asp)
|
|
|
|
NM_016203.4(PRKAG2):c.719C>A (p.Ala240Asp)
|
|
|
|
NM_016203.4(PRKAG2):c.719C>T (p.Ala240Val)
|
rs1824657994
|
|
|
NM_016203.4(PRKAG2):c.721G>C (p.Gly241Arg)
|
rs765544988
|
|
|
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)
|
rs543247293
|
|
|
NM_016203.4(PRKAG2):c.733A>C (p.Lys245Gln)
|
rs2151325092
|
|
|
NM_016203.4(PRKAG2):c.739G>A (p.Glu247Lys)
|
rs397517281
|
|
|
NM_016203.4(PRKAG2):c.740A>G (p.Glu247Gly)
|
rs1824644597
|
|
|
NM_016203.4(PRKAG2):c.745G>A (p.Glu249Lys)
|
|
|
|
NM_016203.4(PRKAG2):c.745G>C (p.Glu249Gln)
|
rs1585369730
|
|
|
NM_016203.4(PRKAG2):c.748G>A (p.Asp250Asn)
|
|
|
|
NM_016203.4(PRKAG2):c.758T>C (p.Val253Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.778_781dup (p.Tyr261fs)
|
rs1585114507
|
|
|
NM_016203.4(PRKAG2):c.785T>C (p.Met262Thr)
|
|
|
|
NM_016203.4(PRKAG2):c.788G>A (p.Arg263Gln)
|
|
|
|
NM_016203.4(PRKAG2):c.813T>A (p.Tyr271Ter)
|
rs1814236823
|
|
|
NM_016203.4(PRKAG2):c.815A>C (p.Asp272Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.83A>G (p.Gln28Arg)
|
rs1164114205
|
|
|
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile)
|
rs397517282
|
|
|
NM_016203.4(PRKAG2):c.865G>C (p.Val289Leu)
|
rs397517282
|
|
|
NM_016203.4(PRKAG2):c.870_876del (p.Lys290fs)
|
|
|
|
NM_016203.4(PRKAG2):c.893C>T (p.Ala298Val)
|
rs730880976
|
|
|
NM_016203.4(PRKAG2):c.896A>G (p.Asn299Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.898G>A (p.Gly300Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.8G>A (p.Ser3Asn)
|
|
|
|
NM_016203.4(PRKAG2):c.911C>G (p.Ala304Gly)
|
rs1808933429
|
|
|
NM_016203.4(PRKAG2):c.91C>G (p.Arg31Gly)
|
|
|
|
NM_016203.4(PRKAG2):c.928A>G (p.Lys310Glu)
|
|
|
|
NM_016203.4(PRKAG2):c.933dup (p.Gln312fs)
|
rs2151042865
|
|
|
NM_016203.4(PRKAG2):c.934C>T (p.Gln312Ter)
|
|
|
|
NM_016203.4(PRKAG2):c.947-19_947-18del
|
|
|
|
NM_016203.4(PRKAG2):c.947-22_947-6dup
|
rs1808529942
|
|
|
NM_016203.4(PRKAG2):c.947G>A (p.Gly316Glu)
|
|
|
|
NM_016203.4(PRKAG2):c.967T>G (p.Phe323Val)
|
rs397517283
|
|
|
NM_016203.4(PRKAG2):c.968T>G (p.Phe323Cys)
|
rs730880977
|
|
|
NM_016203.4(PRKAG2):c.970A>G (p.Ile324Val)
|
|
|
|
NM_016203.4(PRKAG2):c.978A>G (p.Ile326Met)
|
rs1060503023
|
|
|
NM_016203.4(PRKAG2):c.991T>C (p.Tyr331His)
|
|
|
|
NM_016219.5(MAN1B1):c.1013G>C (p.Gly338Ala)
|
|
|
|
NM_016219.5(MAN1B1):c.1013G>T (p.Gly338Val)
|
|
|
|
NM_016219.5(MAN1B1):c.1062A>C (p.Lys354Asn)
|
rs756197449
|
|
|
NM_016219.5(MAN1B1):c.1071T>A (p.Asp357Glu)
|
|
|
|
NM_016219.5(MAN1B1):c.1091C>A (p.Pro364His)
|
|
|
|
NM_016219.5(MAN1B1):c.1157C>T (p.Pro386Leu)
|
|
|
|
NM_016219.5(MAN1B1):c.120GCC[3] (p.Pro44_Pro45del)
|
rs538804415
|
|
|
NM_016219.5(MAN1B1):c.1217G>A (p.Arg406Gln)
|
|
|
|
NM_016219.5(MAN1B1):c.1292T>C (p.Leu431Pro)
|
|
|
|
NM_016219.5(MAN1B1):c.1297G>T (p.Gly433Trp)
|
|
|
|
NM_016219.5(MAN1B1):c.1306G>C (p.Asp436His)
|
|
|
|
NM_016219.5(MAN1B1):c.1327A>G (p.Ile443Val)
|
|
|
|
NM_016219.5(MAN1B1):c.1331A>G (p.Asn444Ser)
|
|
|
|
NM_016219.5(MAN1B1):c.1445+6G>T
|
|
|
|
NM_016219.5(MAN1B1):c.1447CTG[3] (p.Leu484_Glu485insLeu)
|
|
|
|
NM_016219.5(MAN1B1):c.1457A>G (p.Asp486Gly)
|
|
|
|
NM_016219.5(MAN1B1):c.1474G>A (p.Glu492Lys)
|
|
|
|
NM_016219.5(MAN1B1):c.1474G>C (p.Glu492Gln)
|
rs775259244
|
|
|
NM_016219.5(MAN1B1):c.1480G>A (p.Val494Ile)
|
|
|
|
NM_016219.5(MAN1B1):c.1489C>T (p.His497Tyr)
|
|
|
|
NM_016219.5(MAN1B1):c.155T>C (p.Val52Ala)
|
|
|
|
NM_016219.5(MAN1B1):c.1618G>A (p.Gly540Ser)
|
|
|
|
NM_016219.5(MAN1B1):c.1633C>A (p.His545Asn)
|
|
|
|
NM_016219.5(MAN1B1):c.1648C>G (p.Gln550Glu)
|
|
|
|
NM_016219.5(MAN1B1):c.164G>C (p.Ser55Thr)
|
|
|
|
NM_016219.5(MAN1B1):c.1676T>C (p.Met559Thr)
|
|
|
|
NM_016219.5(MAN1B1):c.1682G>A (p.Arg561Gln)
|
|
|
|
NM_016219.5(MAN1B1):c.1696G>C (p.Gly566Arg)
|
|
|
|
NM_016219.5(MAN1B1):c.1748G>A (p.Arg583Gln)
|
|
|
|
NM_016219.5(MAN1B1):c.1790G>A (p.Arg597Gln)
|
|
|
|
NM_016219.5(MAN1B1):c.1792C>T (p.Pro598Ser)
|
|
|
|
NM_016219.5(MAN1B1):c.1823A>T (p.Tyr608Phe)
|
|
|
|
NM_016219.5(MAN1B1):c.1840C>G (p.Arg614Gly)
|
|
|
|
NM_016219.5(MAN1B1):c.1886G>A (p.Arg629Gln)
|
|
|
|
NM_016219.5(MAN1B1):c.1913A>G (p.Tyr638Cys)
|
|
|
|
NM_016219.5(MAN1B1):c.1946A>G (p.Lys649Arg)
|
|
|
|
NM_016219.5(MAN1B1):c.1951G>A (p.Glu651Lys)
|
|
|
|
NM_016219.5(MAN1B1):c.1987G>A (p.Glu663Lys)
|
rs371136351
|
|
|
NM_016219.5(MAN1B1):c.2039G>C (p.Ser680Thr)
|
|
|
|
NM_016219.5(MAN1B1):c.2046_2047inv (p.Ala683Thr)
|
|
|
|
NM_016219.5(MAN1B1):c.2064C>T (p.Thr688=)
|
|
|
|
NM_016219.5(MAN1B1):c.2069C>T (p.Ala690Val)
|
|
|
|
NM_016219.5(MAN1B1):c.2093C>T (p.Pro698Leu)
|
|
|
|
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
|
|
|
|
NM_016219.5(MAN1B1):c.223T>C (p.Trp75Arg)
|
|
|
|
NM_016219.5(MAN1B1):c.247C>T (p.Arg83Trp)
|
|
|
|
NM_016219.5(MAN1B1):c.256A>G (p.Ile86Val)
|
|
|
|
NM_016219.5(MAN1B1):c.298T>G (p.Phe100Val)
|
|
|
|
NM_016219.5(MAN1B1):c.329-9G>C
|
|
|
|
NM_016219.5(MAN1B1):c.329C>T (p.Ala110Val)
|
|
|
|
NM_016219.5(MAN1B1):c.38G>C (p.Gly13Ala)
|
|
|
|
NM_016219.5(MAN1B1):c.410C>T (p.Pro137Leu)
|
|
|
|
NM_016219.5(MAN1B1):c.439G>C (p.Glu147Gln)
|
|
|
|
NM_016219.5(MAN1B1):c.482T>C (p.Ile161Thr)
|
rs2131002805
|
|
|
NM_016219.5(MAN1B1):c.487C>T (p.Arg163Trp)
|
|
|
|
NM_016219.5(MAN1B1):c.49T>C (p.Ser17Pro)
|
|
|
|
NM_016219.5(MAN1B1):c.526G>A (p.Asp176Asn)
|
|
|
|
NM_016219.5(MAN1B1):c.536A>G (p.Asp179Gly)
|
rs2131002949
|
|
|
NM_016219.5(MAN1B1):c.631G>A (p.Ala211Thr)
|
|
|
|
NM_016219.5(MAN1B1):c.632C>T (p.Ala211Val)
|
|
|
|
NM_016219.5(MAN1B1):c.671G>A (p.Arg224Lys)
|
|
|
|
NM_016219.5(MAN1B1):c.677C>G (p.Ala226Gly)
|
rs145554887
|
|
|
NM_016219.5(MAN1B1):c.677C>T (p.Ala226Val)
|
|
|
|
NM_016219.5(MAN1B1):c.730+5G>A
|
|
|
|
NM_016219.5(MAN1B1):c.746G>A (p.Arg249His)
|
|
|
|
NM_016219.5(MAN1B1):c.757G>A (p.Val253Met)
|
|
|
|
NM_016219.5(MAN1B1):c.817G>A (p.Glu273Lys)
|
|
|
|
NM_016219.5(MAN1B1):c.880G>A (p.Ala294Thr)
|
|
|
|
NM_016219.5(MAN1B1):c.892A>G (p.Met298Val)
|
|
|
|
NM_016219.5(MAN1B1):c.970G>A (p.Val324Met)
|
|
|
|
NM_016219.5(MAN1B1):c.973G>A (p.Asp325Asn)
|
|
|
|
NM_021957.4(GYS2):c.117T>A (p.Asn39Lys)
|
rs777214550
|
|
|
NM_021957.4(GYS2):c.1336C>G (p.His446Asp)
|
rs121918425
|
|
|
NM_021957.4(GYS2):c.1477T>A (p.Tyr493Asn)
|
rs539369206
|
|
|
NM_021957.4(GYS2):c.1623C>A (p.His541Gln)
|
rs532771906
|
|
|
NM_021957.4(GYS2):c.1638T>A (p.Thr546=)
|
rs1565591921
|
|
|
NM_021957.4(GYS2):c.1739G>A (p.Arg580His)
|
|
|
|
NM_021957.4(GYS2):c.2033G>T (p.Arg678Leu)
|
|
|
|
NM_021957.4(GYS2):c.2068G>A (p.Val690Ile)
|
|
|
|
NM_021957.4(GYS2):c.215A>G (p.His72Arg)
|
rs574787003
|
|
|
NM_021957.4(GYS2):c.283A>G (p.Met95Val)
|
|
|
|
NM_021957.4(GYS2):c.299G>A (p.Cys100Tyr)
|
rs144077289
|
|
|
NM_021957.4(GYS2):c.308A>G (p.His103Arg)
|
|
|
|
NM_021957.4(GYS2):c.464T>G (p.Phe155Cys)
|
|
|
|
NM_021957.4(GYS2):c.693A>C (p.Lys231Asn)
|
|
|
|
NM_021957.4(GYS2):c.710_711delinsCC (p.Gln237Pro)
|
|
|
|
NM_021957.4(GYS2):c.753C>G (p.Cys251Trp)
|
rs779543684
|
|
|
NM_024989.4(PGAP1):c.1036A>T (p.Thr346Ser)
|
|
|
|
NM_024989.4(PGAP1):c.104A>G (p.Asn35Ser)
|
|
|
|
NM_024989.4(PGAP1):c.1069T>C (p.Trp357Arg)
|
rs747024084
|
|
|
NM_024989.4(PGAP1):c.1078G>A (p.Val360Ile)
|
|
|
|
NM_024989.4(PGAP1):c.1085A>T (p.Tyr362Phe)
|
|
|
|
NM_024989.4(PGAP1):c.1208G>A (p.Ser403Asn)
|
|
|
|
NM_024989.4(PGAP1):c.1220+3A>G
|
rs2125812472
|
|
|
NM_024989.4(PGAP1):c.1230G>T (p.Gly410=)
|
rs2125812117
|
|
|
NM_024989.4(PGAP1):c.124A>G (p.Met42Val)
|
rs772948939
|
|
|
NM_024989.4(PGAP1):c.1346G>A (p.Ser449Asn)
|
|
|
|
NM_024989.4(PGAP1):c.1350+4_1350+5insAAA
|
rs759795498
|
|
|
NM_024989.4(PGAP1):c.1382A>G (p.Glu461Gly)
|
|
|
|
NM_024989.4(PGAP1):c.1397A>G (p.Gln466Arg)
|
|
|
|
NM_024989.4(PGAP1):c.1447G>A (p.Val483Met)
|
rs1329688368
|
|
|
NM_024989.4(PGAP1):c.1447G>C (p.Val483Leu)
|
rs1329688368
|
|
|
NM_024989.4(PGAP1):c.147+5G>C
|
|
|
|
NM_024989.4(PGAP1):c.1496G>A (p.Gly499Glu)
|
|
|
|
NM_024989.4(PGAP1):c.1521C>G (p.Ile507Met)
|
|
|
|
NM_024989.4(PGAP1):c.16_17inv (p.Val6Thr)
|
|
|
|
NM_024989.4(PGAP1):c.1706C>T (p.Thr569Met)
|
|
|
|
NM_024989.4(PGAP1):c.1729-16_1729-13del
|
|
|
|
NM_024989.4(PGAP1):c.1953G>C (p.Gly651=)
|
|
|
|
NM_024989.4(PGAP1):c.1981G>C (p.Val661Leu)
|
|
|
|
NM_024989.4(PGAP1):c.2018C>T (p.Thr673Ile)
|
|
|
|
NM_024989.4(PGAP1):c.2045T>C (p.Ile682Thr)
|
rs2125778704
|
|
|
NM_024989.4(PGAP1):c.2072C>T (p.Thr691Met)
|
|
|
|
NM_024989.4(PGAP1):c.2107G>A (p.Ala703Thr)
|
|
|
|
NM_024989.4(PGAP1):c.2136G>C (p.Trp712Cys)
|
|
|
|
NM_024989.4(PGAP1):c.2141C>T (p.Ala714Val)
|
|
|
|
NM_024989.4(PGAP1):c.22C>A (p.Leu8Ile)
|
|
|
|
NM_024989.4(PGAP1):c.2314A>G (p.Thr772Ala)
|
|
|
|
NM_024989.4(PGAP1):c.2327G>A (p.Ser776Asn)
|
|
|
|
NM_024989.4(PGAP1):c.2332C>A (p.Pro778Thr)
|
|
|
|
NM_024989.4(PGAP1):c.2351C>G (p.Ser784Cys)
|
rs760816428
|
|
|
NM_024989.4(PGAP1):c.2371T>C (p.Ser791Pro)
|
|
|
|
NM_024989.4(PGAP1):c.2372C>T (p.Ser791Phe)
|
|
|
|
NM_024989.4(PGAP1):c.2385A>C (p.Lys795Asn)
|
|
|
|
NM_024989.4(PGAP1):c.2441G>A (p.Arg814His)
|
|
|
|
NM_024989.4(PGAP1):c.251C>T (p.Thr84Met)
|
|
|
|
NM_024989.4(PGAP1):c.2525+4C>T
|
|
|
|
NM_024989.4(PGAP1):c.2537A>T (p.Lys846Ile)
|
|
|
|
NM_024989.4(PGAP1):c.2548G>T (p.Asp850Tyr)
|
rs2125775207
|
|
|
NM_024989.4(PGAP1):c.2607_2610dup (p.Thr871fs)
|
rs1700449009
|
|
|
NM_024989.4(PGAP1):c.2614G>A (p.Val872Ile)
|
|
|
|
NM_024989.4(PGAP1):c.2690T>C (p.Phe897Ser)
|
rs1559326086
|
|
|
NM_024989.4(PGAP1):c.2764A>G (p.Met922Val)
|
|
|
|
NM_024989.4(PGAP1):c.301+5G>A
|
|
|
|
NM_024989.4(PGAP1):c.31C>G (p.Leu11Val)
|
rs375123215
|
|
|
NM_024989.4(PGAP1):c.334G>T (p.Ala112Ser)
|
|
|
|
NM_024989.4(PGAP1):c.34G>T (p.Ala12Ser)
|
rs1703369332
|
|
|
NM_024989.4(PGAP1):c.386A>G (p.Asn129Ser)
|
|
|
|
NM_024989.4(PGAP1):c.416G>A (p.Ser139Asn)
|
|
|
|
NM_024989.4(PGAP1):c.43G>A (p.Val15Ile)
|
|
|
|
NM_024989.4(PGAP1):c.442C>T (p.His148Tyr)
|
rs1364134988
|
|
|
NM_024989.4(PGAP1):c.497A>G (p.Lys166Arg)
|
|
|
|
NM_024989.4(PGAP1):c.502G>A (p.Val168Met)
|
|
|
|
NM_024989.4(PGAP1):c.511A>G (p.Ile171Val)
|
|
|
|
NM_024989.4(PGAP1):c.525G>A (p.Met175Ile)
|
|
|
|
NM_024989.4(PGAP1):c.52G>A (p.Val18Ile)
|
|
|
|
NM_024989.4(PGAP1):c.583A>C (p.Asn195His)
|
|
|
|
NM_024989.4(PGAP1):c.709A>C (p.Thr237Pro)
|
|
|
|
NM_024989.4(PGAP1):c.734G>A (p.Arg245Gln)
|
|
|
|
NM_024989.4(PGAP1):c.749G>A (p.Arg250His)
|
|
|
|
NM_024989.4(PGAP1):c.749G>C (p.Arg250Pro)
|
|
|
|
NM_024989.4(PGAP1):c.790A>G (p.Ser264Gly)
|
|
|
|
NM_024989.4(PGAP1):c.807+5T>C
|
|
|
|
NM_024989.4(PGAP1):c.808-7_808-3del
|
rs570708925
|
|
|
NM_024989.4(PGAP1):c.82G>A (p.Val28Ile)
|
|
|
|
NM_024989.4(PGAP1):c.857T>C (p.Val286Ala)
|
|
|
|
NM_024989.4(PGAP1):c.892G>A (p.Ala298Thr)
|
rs1385705047
|
|
|
NM_024989.4(PGAP1):c.908T>C (p.Ile303Thr)
|
|
|
|
NM_024989.4(PGAP1):c.911A>T (p.Asp304Val)
|
rs1323722383
|
|
|
NM_024989.4(PGAP1):c.91G>A (p.Gly31Ser)
|
|
|
|
NM_031229.4(RBCK1):c.1016G>A (p.Arg339Lys)
|
rs2122282675
|
|
|
NM_031229.4(RBCK1):c.1049A>G (p.Tyr350Cys)
|
|
|
|
NM_031229.4(RBCK1):c.1069G>A (p.Gly357Ser)
|
rs2122324503
|
|
|
NM_031229.4(RBCK1):c.1094G>T (p.Ser365Ile)
|
|
|
|
NM_031229.4(RBCK1):c.1129_1130delinsCT (p.Lys377Leu)
|
|
|
|
NM_031229.4(RBCK1):c.1153G>T (p.Asp385Tyr)
|
|
|
|
NM_031229.4(RBCK1):c.1164G>C (p.Glu388Asp)
|
|
|
|
NM_031229.4(RBCK1):c.1209+6G>T
|
|
|
|
NM_031229.4(RBCK1):c.1238A>G (p.Glu413Gly)
|
|
|
|
NM_031229.4(RBCK1):c.1276G>A (p.Val426Met)
|
rs763071132
|
|
|
NM_031229.4(RBCK1):c.1286G>A (p.Arg429Gln)
|
|
|
|
NM_031229.4(RBCK1):c.1292C>T (p.Thr431Met)
|
|
|
|
NM_031229.4(RBCK1):c.1302G>T (p.Met434Ile)
|
rs1600315243
|
|
|
NM_031229.4(RBCK1):c.1309-9C>T
|
|
|
|
NM_031229.4(RBCK1):c.1309G>A (p.Val437Met)
|
|
|
|
NM_031229.4(RBCK1):c.1357G>A (p.Val453Met)
|
|
|
|
NM_031229.4(RBCK1):c.1368G>T (p.Lys456Asn)
|
|
|
|
NM_031229.4(RBCK1):c.1369A>G (p.Lys457Glu)
|
|
|
|
NM_031229.4(RBCK1):c.1384T>C (p.Trp462Arg)
|
|
|
|
NM_031229.4(RBCK1):c.1390C>G (p.Arg464Gly)
|
|
|
|
NM_031229.4(RBCK1):c.1408A>G (p.Thr470Ala)
|
|
|
|
NM_031229.4(RBCK1):c.1430A>G (p.Lys477Arg)
|
|
|
|
NM_031229.4(RBCK1):c.143A>C (p.Glu48Ala)
|
rs756720324
|
|
|
NM_031229.4(RBCK1):c.1452+6T>C
|
rs2122339130
|
|
|
NM_031229.4(RBCK1):c.146T>C (p.Val49Ala)
|
rs2015609266
|
|
|
NM_031229.4(RBCK1):c.1495G>A (p.Gly499Arg)
|
rs2016958362
|
|
|
NM_031229.4(RBCK1):c.149C>T (p.Ser50Phe)
|
|
|
|
NM_031229.4(RBCK1):c.1514G>A (p.Ser505Asn)
|
|
|
|
NM_031229.4(RBCK1):c.167+3G>A
|
rs2015610951
|
|
|
NM_031229.4(RBCK1):c.185A>T (p.Glu62Val)
|
rs1568554230
|
|
|
NM_031229.4(RBCK1):c.19A>G (p.Lys7Glu)
|
|
|
|
NM_031229.4(RBCK1):c.205G>A (p.Val69Ile)
|
rs778362577
|
|
|
NM_031229.4(RBCK1):c.205G>C (p.Val69Leu)
|
rs778362577
|
|
|
NM_031229.4(RBCK1):c.209C>T (p.Thr70Ile)
|
|
|
|
NM_031229.4(RBCK1):c.227G>A (p.Arg76His)
|
|
|
|
NM_031229.4(RBCK1):c.227G>C (p.Arg76Pro)
|
rs772407882
|
|
|
NM_031229.4(RBCK1):c.242T>C (p.Val81Ala)
|
rs778228682
|
|
|
NM_031229.4(RBCK1):c.261+6_261+9del
|
rs754865819
|
|
|
NM_031229.4(RBCK1):c.262-4C>G
|
|
|
|
NM_031229.4(RBCK1):c.290T>C (p.Val97Ala)
|
|
|
|
NM_031229.4(RBCK1):c.290T>G (p.Val97Gly)
|
rs764728866
|
|
|
NM_031229.4(RBCK1):c.317G>A (p.Arg106Gln)
|
rs752153553
|
|
|
NM_031229.4(RBCK1):c.359G>A (p.Arg120Gln)
|
|
|
|
NM_031229.4(RBCK1):c.412C>T (p.Leu138Phe)
|
|
|
|
NM_031229.4(RBCK1):c.419C>T (p.Pro140Leu)
|
rs2122228193
|
|
|
NM_031229.4(RBCK1):c.434G>T (p.Arg145Leu)
|
|
|
|
NM_031229.4(RBCK1):c.436G>A (p.Glu146Lys)
|
rs1555785275
|
|
|
NM_031229.4(RBCK1):c.459A>G (p.Glu153=)
|
|
|
|
NM_031229.4(RBCK1):c.463C>A (p.Leu155Met)
|
rs2016220877
|
|
|
NM_031229.4(RBCK1):c.481A>G (p.Thr161Ala)
|
rs2016222055
|
|
|
NM_031229.4(RBCK1):c.496G>T (p.Gly166Cys)
|
rs2122242440
|
|
|
NM_031229.4(RBCK1):c.508C>A (p.Pro170Thr)
|
|
|
|
NM_031229.4(RBCK1):c.530T>C (p.Val177Ala)
|
rs766968693
|
|
|
NM_031229.4(RBCK1):c.571G>A (p.Glu191Lys)
|
|
|
|
NM_031229.4(RBCK1):c.577C>T (p.Pro193Ser)
|
|
|
|
NM_031229.4(RBCK1):c.601G>T (p.Gly201Trp)
|
|
|
|
NM_031229.4(RBCK1):c.653G>T (p.Arg218Leu)
|
rs764357407
|
|
|
NM_031229.4(RBCK1):c.656C>T (p.Ala219Val)
|
|
|
|
NM_031229.4(RBCK1):c.658C>T (p.Arg220Cys)
|
|
|
|
NM_031229.4(RBCK1):c.695_742dup (p.Pro232_Leu247dup)
|
rs2016250689
|
|
|
NM_031229.4(RBCK1):c.697G>A (p.Asp233Asn)
|
rs1056596650
|
|
|
NM_031229.4(RBCK1):c.697G>C (p.Asp233His)
|
|
|
|
NM_031229.4(RBCK1):c.700G>C (p.Glu234Gln)
|
rs756811010
|
|
|
NM_031229.4(RBCK1):c.700GAG[4] (p.Glu236dup)
|
rs2016252024
|
|
|
NM_031229.4(RBCK1):c.704A>G (p.Glu235Gly)
|
rs2122246121
|
|
|
NM_031229.4(RBCK1):c.710G>A (p.Arg237Gln)
|
rs770302308
|
|
|
NM_031229.4(RBCK1):c.732G>T (p.Glu244Asp)
|
|
|
|
NM_031229.4(RBCK1):c.742C>A (p.Arg248Ser)
|
rs993862197
|
|
|
NM_031229.4(RBCK1):c.754C>A (p.Gln252Lys)
|
rs2016261661
|
|
|
NM_031229.4(RBCK1):c.757-10G>A
|
rs1472775469
|
|
|
NM_031229.4(RBCK1):c.757C>T (p.Arg253Trp)
|
rs867822612
|
|
|
NM_031229.4(RBCK1):c.758G>C (p.Arg253Pro)
|
|
|
|
NM_031229.4(RBCK1):c.760A>G (p.Lys254Glu)
|
rs2016380869
|
|
|
NM_031229.4(RBCK1):c.763CAG[3] (p.Gln258del)
|
rs770767944
|
|
|
NM_031229.4(RBCK1):c.763CAG[5] (p.Gln258_Glu259insGln)
|
|
|
|
NM_031229.4(RBCK1):c.765G>C (p.Gln255His)
|
rs1167649288
|
|
|
NM_031229.4(RBCK1):c.770A>G (p.Gln257Arg)
|
rs755744736
|
|
|
NM_031229.4(RBCK1):c.770A>T (p.Gln257Leu)
|
|
|
|
NM_031229.4(RBCK1):c.795C>G (p.His265Gln)
|
rs1001816526
|
|
|
NM_031229.4(RBCK1):c.812G>A (p.Arg271Lys)
|
|
|
|
NM_031229.4(RBCK1):c.832G>C (p.Glu278Gln)
|
|
|
|
NM_031229.4(RBCK1):c.836C>A (p.Pro279His)
|
rs778259648
|
|
|
NM_031229.4(RBCK1):c.845G>A (p.Cys282Tyr)
|
rs1600298063
|
|
|
NM_031229.4(RBCK1):c.860C>T (p.Ser287Leu)
|
|
|
|
NM_031229.4(RBCK1):c.874G>A (p.Gly292Ser)
|
|
|
|
NM_031229.4(RBCK1):c.875G>T (p.Gly292Val)
|
|
|
|
NM_031229.4(RBCK1):c.880G>T (p.Ala294Ser)
|
|
|
|
NM_031229.4(RBCK1):c.883G>C (p.Val295Leu)
|
rs765956229
|
|
|
NM_031229.4(RBCK1):c.883GTG[1] (p.Val296del)
|
rs2122269453
|
|
|
NM_031229.4(RBCK1):c.893G>A (p.Arg298His)
|
rs2016395491
|
|
|
NM_031229.4(RBCK1):c.907A>G (p.Thr303Ala)
|
|
|
|
NM_031229.4(RBCK1):c.94A>G (p.Ile32Val)
|
|
|
|
NM_031229.4(RBCK1):c.976A>G (p.Ile326Val)
|
|
|
|
NM_031229.4(RBCK1):c.986C>A (p.Thr329Asn)
|
|
|
|
NM_031229.4(RBCK1):c.989A>G (p.Tyr330Cys)
|
rs2122282171
|
|
|
NM_031229.4(RBCK1):c.992C>G (p.Ser331Trp)
|
rs781592121
|
|
|
NM_031229.4(RBCK1):c.994T>A (p.Cys332Ser)
|
rs2122282299
|
|
|
NM_031229.4(RBCK1):c.997T>C (p.Ser333Pro)
|
|
|
|
NM_033159.4(HYAL1):c.103G>A (p.Val35Ile)
|
|
|
|
NM_033159.4(HYAL1):c.104T>A (p.Val35Asp)
|
|
|
|
NM_033159.4(HYAL1):c.1058G>A (p.Ser353Asn)
|
|
|
|
NM_033159.4(HYAL1):c.10C>T (p.His4Tyr)
|
|
|
|
NM_033159.4(HYAL1):c.1103G>A (p.Arg368His)
|
|
|
|
NM_033159.4(HYAL1):c.1111C>T (p.Arg371Cys)
|
|
|
|
NM_033159.4(HYAL1):c.1138C>T (p.Leu380Phe)
|
rs782055404
|
|
|
NM_033159.4(HYAL1):c.1144_1146del (p.Leu382del)
|
|
|
|
NM_033159.4(HYAL1):c.1156A>T (p.Ser386Cys)
|
rs781999703
|
|
|
NM_033159.4(HYAL1):c.1159T>G (p.Phe387Val)
|
|
|
|
NM_033159.4(HYAL1):c.1177C>G (p.Pro393Ala)
|
|
|
|
NM_033159.4(HYAL1):c.1202G>A (p.Arg401Gln)
|
|
|
|
NM_033159.4(HYAL1):c.1204G>C (p.Gly402Arg)
|
|
|
|
NM_033159.4(HYAL1):c.1231C>T (p.Gln411Ter)
|
|
|
|
NM_033159.4(HYAL1):c.1264C>A (p.Pro422Thr)
|
|
|
|
NM_033159.4(HYAL1):c.1267G>A (p.Gly423Ser)
|
|
|
|
NM_033159.4(HYAL1):c.142G>A (p.Gly48Ser)
|
|
|
|
NM_033159.4(HYAL1):c.151G>A (p.Val51Met)
|
|
|
|
NM_033159.4(HYAL1):c.155A>G (p.Asp52Gly)
|
|
|
|
NM_033159.4(HYAL1):c.156T>A (p.Asp52Glu)
|
|
|
|
NM_033159.4(HYAL1):c.169G>A (p.Asp57Asn)
|
|
|
|
NM_033159.4(HYAL1):c.203G>A (p.Gly68Asp)
|
|
|
|
NM_033159.4(HYAL1):c.206C>G (p.Pro69Arg)
|
|
|
|
NM_033159.4(HYAL1):c.227G>T (p.Ser76Ile)
|
rs1221211075
|
|
|
NM_033159.4(HYAL1):c.239G>T (p.Gly80Val)
|
|
|
|
NM_033159.4(HYAL1):c.297T>G (p.Asn99Lys)
|
rs782638873
|
|
|
NM_033159.4(HYAL1):c.315C>G (p.His105Gln)
|
|
|
|
NM_033159.4(HYAL1):c.322C>T (p.Arg108Cys)
|
|
|
|
NM_033159.4(HYAL1):c.332A>G (p.Gln111Arg)
|
rs781865734
|
|
|
NM_033159.4(HYAL1):c.370G>A (p.Gly124Arg)
|
|
|
|
NM_033159.4(HYAL1):c.383T>C (p.Ile128Thr)
|
|
|
|
NM_033159.4(HYAL1):c.397T>C (p.Trp133Arg)
|
rs1471550375
|
|
|
NM_033159.4(HYAL1):c.400C>T (p.Arg134Cys)
|
|
|
|
NM_033159.4(HYAL1):c.401G>C (p.Arg134Pro)
|
|
|
|
NM_033159.4(HYAL1):c.406C>T (p.Arg136Cys)
|
|
|
|
NM_033159.4(HYAL1):c.407G>A (p.Arg136His)
|
rs376279134
|
|
|
NM_033159.4(HYAL1):c.408C>G (p.Arg136=)
|
rs782343934
|
|
|
NM_033159.4(HYAL1):c.443G>A (p.Arg148Gln)
|
rs144539557
|
|
|
NM_033159.4(HYAL1):c.448C>T (p.Arg150Cys)
|
|
|
|
NM_033159.4(HYAL1):c.455G>A (p.Arg152Gln)
|
rs781929111
|
|
|
NM_033159.4(HYAL1):c.49G>C (p.Asp17His)
|
|
|
|
NM_033159.4(HYAL1):c.523T>C (p.Phe175Leu)
|
|
|
|
NM_033159.4(HYAL1):c.547A>G (p.Met183Val)
|
|
|
|
NM_033159.4(HYAL1):c.572G>A (p.Arg191Gln)
|
|
|
|
NM_033159.4(HYAL1):c.586C>T (p.Arg196Cys)
|
|
|
|
NM_033159.4(HYAL1):c.605A>G (p.Tyr202Cys)
|
|
|
|
NM_033159.4(HYAL1):c.655G>A (p.Gly219Ser)
|
|
|
|
NM_033159.4(HYAL1):c.676C>A (p.Arg226Ser)
|
|
|
|
NM_033159.4(HYAL1):c.697G>C (p.Gly233Arg)
|
|
|
|
NM_033159.4(HYAL1):c.71G>T (p.Gly24Val)
|
|
|
|
NM_033159.4(HYAL1):c.734G>C (p.Ser245Thr)
|
|
|
|
NM_033159.4(HYAL1):c.748G>A (p.Ala250Thr)
|
|
|
|
NM_033159.4(HYAL1):c.827C>T (p.Ala276Val)
|
|
|
|
NM_033159.4(HYAL1):c.853C>T (p.Pro285Ser)
|
rs902728091
|
|
|
NM_033159.4(HYAL1):c.872A>G (p.Tyr291Cys)
|
|
|
|
NM_033159.4(HYAL1):c.886C>G (p.His296Asp)
|
|
|
|
NM_033159.4(HYAL1):c.88C>T (p.Arg30Trp)
|
|
|
|
NM_033159.4(HYAL1):c.899del (p.Leu300fs)
|
|
|
|
NM_033159.4(HYAL1):c.900G>C (p.Leu300=)
|
|
|
|
NM_033159.4(HYAL1):c.931G>A (p.Ala311Thr)
|
|
|
|
NM_033159.4(HYAL1):c.943dup (p.Ala315fs)
|
|
|
|
NM_033159.4(HYAL1):c.958C>A (p.Leu320Ile)
|
rs1553712742
|
|
|
NM_053013.4(ENO3):c.103G>A (p.Val35Met)
|
rs1317890147
|
|
|
NM_053013.4(ENO3):c.1067+1G>A
|
|
|
|
NM_053013.4(ENO3):c.1073A>T (p.Lys358Ile)
|
|
|
|
NM_053013.4(ENO3):c.1095G>A (p.Trp365Ter)
|
|
|
|
NM_053013.4(ENO3):c.1115G>A (p.Arg372His)
|
|
|
|
NM_053013.4(ENO3):c.1123G>A (p.Glu375Lys)
|
rs770822790
|
|
|
NM_053013.4(ENO3):c.1176G>A (p.Gln392=)
|
|
|
|
NM_053013.4(ENO3):c.1177A>G (p.Ile393Val)
|
|
|
|
NM_053013.4(ENO3):c.1178T>G (p.Ile393Ser)
|
|
|
|
NM_053013.4(ENO3):c.1181A>G (p.Lys394Arg)
|
|
|
|
NM_053013.4(ENO3):c.1194dup (p.Cys399fs)
|
rs757440599
|
|
|
NM_053013.4(ENO3):c.1199G>A (p.Arg400His)
|
|
|
|
NM_053013.4(ENO3):c.1202C>T (p.Ser401Leu)
|
|
|
|
NM_053013.4(ENO3):c.1221C>A (p.Tyr407Ter)
|
|
|
|
NM_053013.4(ENO3):c.1233G>A (p.Met411Ile)
|
|
|
|
NM_053013.4(ENO3):c.1235+5A>G
|
|
|
|
NM_053013.4(ENO3):c.1236G>C (p.Arg412Ser)
|
|
|
|
NM_053013.4(ENO3):c.1240G>A (p.Glu414Lys)
|
|
|
|
NM_053013.4(ENO3):c.1257C>A (p.Asp419Glu)
|
|
|
|
NM_053013.4(ENO3):c.1277G>A (p.Arg426His)
|
|
|
|
NM_053013.4(ENO3):c.1286G>A (p.Arg429His)
|
|
|
|
NM_053013.4(ENO3):c.1291C>A (p.Pro431Thr)
|
rs1821447881
|
|
|
NM_053013.4(ENO3):c.1296G>C (p.Lys432Asn)
|
|
|
|
NM_053013.4(ENO3):c.1303T>C (p.Ter435Arg)
|
|
|
|
NM_053013.4(ENO3):c.131A>G (p.Tyr44Cys)
|
|
|
|
NM_053013.4(ENO3):c.142G>A (p.Glu48Lys)
|
|
|
|
NM_053013.4(ENO3):c.151G>T (p.Asp51Tyr)
|
|
|
|
NM_053013.4(ENO3):c.181+6_181+8del
|
|
|
|
NM_053013.4(ENO3):c.209A>G (p.Asn70Ser)
|
|
|
|
NM_053013.4(ENO3):c.211_212delinsGG (p.Asn71Gly)
|
|
|
|
NM_053013.4(ENO3):c.22G>A (p.Ala8Thr)
|
|
|
|
NM_053013.4(ENO3):c.235C>T (p.Gln79Ter)
|
|
|
|
NM_053013.4(ENO3):c.240G>A (p.Lys80=)
|
rs980318534
|
|
|
NM_053013.4(ENO3):c.262G>T (p.Glu88Ter)
|
|
|
|
NM_053013.4(ENO3):c.296G>A (p.Gly99Glu)
|
rs1597699325
|
|
|
NM_053013.4(ENO3):c.298A>T (p.Thr100Ser)
|
|
|
|
NM_053013.4(ENO3):c.310+1G>C
|
rs113298706
|
|
|
NM_053013.4(ENO3):c.310+3G>A
|
|
|
|
NM_053013.4(ENO3):c.326A>G (p.Asn109Ser)
|
rs143749502
|
|
|
NM_053013.4(ENO3):c.352G>A (p.Val118Met)
|
|
|
|
NM_053013.4(ENO3):c.360G>C (p.Lys120Asn)
|
|
|
|
NM_053013.4(ENO3):c.378G>C (p.Lys126Asn)
|
|
|
|
NM_053013.4(ENO3):c.382dup (p.Val128fs)
|
|
|
|
NM_053013.4(ENO3):c.383T>A (p.Val128Asp)
|
|
|
|
NM_053013.4(ENO3):c.394C>T (p.Arg132Cys)
|
|
|
|
NM_053013.4(ENO3):c.3G>A (p.Met1Ile)
|
|
|
|
NM_053013.4(ENO3):c.404C>T (p.Ala135Val)
|
|
|
|
NM_053013.4(ENO3):c.412G>A (p.Ala138Thr)
|
rs202030238
|
|
|
NM_053013.4(ENO3):c.412G>C (p.Ala138Pro)
|
|
|
|
NM_053013.4(ENO3):c.444+1G>T
|
|
|
|
NM_053013.4(ENO3):c.444+5G>A
|
|
|
|
NM_053013.4(ENO3):c.451A>G (p.Asn151Asp)
|
|
|
|
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser)
|
rs560867570
|
|
|
NM_053013.4(ENO3):c.469T>G (p.Ser157Ala)
|
|
|
|
NM_053013.4(ENO3):c.475G>C (p.Ala159Pro)
|
rs1971675855
|
|
|
NM_053013.4(ENO3):c.483C>A (p.Asn161Lys)
|
|
|
|
NM_053013.4(ENO3):c.496C>G (p.Gln166Glu)
|
rs1179493512
|
|
|
NM_053013.4(ENO3):c.49A>G (p.Asn17Asp)
|
rs1971550702
|
|
|
NM_053013.4(ENO3):c.518T>G (p.Val173Gly)
|
rs1597702371
|
|
|
NM_053013.4(ENO3):c.524C>T (p.Ala175Val)
|
|
|
|
NM_053013.4(ENO3):c.544A>G (p.Met182Val)
|
rs1401088566
|
|
|
NM_053013.4(ENO3):c.547C>T (p.Arg183Cys)
|
|
|
|
NM_053013.4(ENO3):c.556G>A (p.Ala186Thr)
|
|
|
|
NM_053013.4(ENO3):c.563T>C (p.Val188Ala)
|
|
|
|
NM_053013.4(ENO3):c.56C>T (p.Thr19Met)
|
|
|
|
NM_053013.4(ENO3):c.573C>A (p.His191Gln)
|
|
|
|
NM_053013.4(ENO3):c.613A>G (p.Thr205Ala)
|
|
|
|
NM_053013.4(ENO3):c.623G>C (p.Gly208Ala)
|
|
|
|
NM_053013.4(ENO3):c.639C>A (p.Phe213Leu)
|
rs373847361
|
|
|
NM_053013.4(ENO3):c.662A>G (p.Asn221Ser)
|
|
|
|
NM_053013.4(ENO3):c.692_707dup (p.Asp238fs)
|
rs757486701
|
|
|
NM_053013.4(ENO3):c.710C>G (p.Pro237Arg)
|
|
|
|
NM_053013.4(ENO3):c.710del (p.Pro237fs)
|
rs778664924
|
|
|
NM_053013.4(ENO3):c.758G>A (p.Arg253His)
|
|
|
|
NM_053013.4(ENO3):c.771C>G (p.Tyr257Ter)
|
|
|
|
NM_053013.4(ENO3):c.772G>A (p.Asp258Asn)
|
rs772780015
|
|
|
NM_053013.4(ENO3):c.772G>T (p.Asp258Tyr)
|
|
|
|
NM_053013.4(ENO3):c.77C>A (p.Thr26Lys)
|
rs199677913
|
|
|
NM_053013.4(ENO3):c.77C>T (p.Thr26Met)
|
rs199677913
|
|
|
NM_053013.4(ENO3):c.802G>A (p.Ala268Thr)
|
|
|
|
NM_053013.4(ENO3):c.829G>A (p.Gly277Arg)
|
|
|
|
NM_053013.4(ENO3):c.846C>G (p.Ser282Arg)
|
|
|
|
NM_053013.4(ENO3):c.85+4A>T
|
|
|
|
NM_053013.4(ENO3):c.877G>A (p.Glu293Lys)
|
|
|
|
NM_053013.4(ENO3):c.88C>T (p.Arg30Ter)
|
|
|
|
NM_053013.4(ENO3):c.910del (p.Trp304fs)
|
|
|
|
NM_053013.4(ENO3):c.914C>T (p.Thr305Ile)
|
|
|
|
NM_053013.4(ENO3):c.926C>T (p.Ser309Leu)
|
|
|
|
NM_053013.4(ENO3):c.92T>A (p.Phe31Tyr)
|
|
|
|
NM_053013.4(ENO3):c.931G>T (p.Val311Leu)
|
|
|
|
NM_053013.4(ENO3):c.94C>T (p.Arg32Ter)
|
|
|
|
NM_053013.4(ENO3):c.95G>A (p.Arg32Gln)
|
|
|
|
NM_152419.3(HGSNAT):c.1006G>A (p.Gly336Ser)
|
|
|
|
NM_152419.3(HGSNAT):c.1006G>T (p.Gly336Cys)
|
rs2130766732
|
|
|
NM_152419.3(HGSNAT):c.1012T>G (p.Leu338Val)
|
|
|
|
NM_152419.3(HGSNAT):c.1027G>A (p.Val343Met)
|
|
|
|
NM_152419.3(HGSNAT):c.1027G>T (p.Val343Leu)
|
rs1276314637
|
|
|
NM_152419.3(HGSNAT):c.1033A>G (p.Ile345Val)
|
rs2130783652
|
|
|
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met)
|
rs1318217031
|
|
|
NM_152419.3(HGSNAT):c.1052G>A (p.Arg351Gln)
|
rs1299209150
|
|
|
NM_152419.3(HGSNAT):c.1052G>T (p.Arg351Leu)
|
rs1299209150
|
|
|
NM_152419.3(HGSNAT):c.1069T>C (p.Phe357Leu)
|
rs2130783774
|
|
|
NM_152419.3(HGSNAT):c.1088A>G (p.Glu363Gly)
|
|
|
|
NM_152419.3(HGSNAT):c.1106C>G (p.Pro369Arg)
|
rs2130783868
|
|
|
NM_152419.3(HGSNAT):c.110C>G (p.Pro37Arg)
|
rs1465935790
|
|
|
NM_152419.3(HGSNAT):c.1112C>T (p.Pro371Leu)
|
rs1804152812
|
|
|
NM_152419.3(HGSNAT):c.1128G>T (p.Ser376=)
|
rs770462636
|
|
|
NM_152419.3(HGSNAT):c.1132A>T (p.Arg378Trp)
|
rs2130805062
|
|
|
NM_152419.3(HGSNAT):c.1133G>C (p.Arg378Thr)
|
|
|
|
NM_152419.3(HGSNAT):c.1134G>T (p.Arg378Ser)
|
|
|
|
NM_152419.3(HGSNAT):c.1151G>T (p.Arg384Leu)
|
rs377486419
|
|
|
NM_152419.3(HGSNAT):c.1155C>G (p.Asp385Glu)
|
|
|
|
NM_152419.3(HGSNAT):c.1175A>T (p.Gln392Leu)
|
rs772905027
|
|
|
NM_152419.3(HGSNAT):c.117A>C (p.Arg39=)
|
rs1802484828
|
|
|
NM_152419.3(HGSNAT):c.1180C>A (p.Leu394Met)
|
rs1335612982
|
|
|
NM_152419.3(HGSNAT):c.1185_1196del (p.Ile396_Leu399del)
|
|
|
|
NM_152419.3(HGSNAT):c.1225C>T (p.Leu409Phe)
|
|
|
|
NM_152419.3(HGSNAT):c.1237C>G (p.Pro413Ala)
|
rs201346206
|
|
|
NM_152419.3(HGSNAT):c.1255T>C (p.Tyr419His)
|
rs1220333666
|
|
|
NM_152419.3(HGSNAT):c.1256A>G (p.Tyr419Cys)
|
|
|
|
NM_152419.3(HGSNAT):c.1265C>G (p.Pro422Arg)
|
|
|
|
NM_152419.3(HGSNAT):c.1271G>A (p.Gly424Asp)
|
rs2130807313
|
|
|
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys)
|
rs777276988
|
|
|
NM_152419.3(HGSNAT):c.1291T>C (p.Tyr431His)
|
|
|
|
NM_152419.3(HGSNAT):c.1312G>A (p.Ala438Thr)
|
|
|
|
NM_152419.3(HGSNAT):c.1316C>G (p.Ala439Gly)
|
rs1804567846
|
|
|
NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)
|
|
|
|
NM_152419.3(HGSNAT):c.1330C>G (p.Arg444Gly)
|
rs763301637
|
|
|
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)
|
rs763301637
|
|
|
NM_152419.3(HGSNAT):c.1356_1358del (p.Tyr453del)
|
|
|
|
NM_152419.3(HGSNAT):c.1358A>G (p.Tyr453Cys)
|
|
|
|
NM_152419.3(HGSNAT):c.135A>T (p.Arg45Ser)
|
|
|
|
NM_152419.3(HGSNAT):c.1370C>T (p.Ser457Phe)
|
|
|
|
NM_152419.3(HGSNAT):c.1378G>A (p.Val460Ile)
|
|
|
|
NM_152419.3(HGSNAT):c.137A>T (p.His46Leu)
|
rs2130677199
|
|
|
NM_152419.3(HGSNAT):c.1393G>A (p.Glu465Lys)
|
|
|
|
NM_152419.3(HGSNAT):c.1396G>A (p.Val466Met)
|
rs1414923802
|
|
|
NM_152419.3(HGSNAT):c.1420C>G (p.Leu474Val)
|
rs1804620596
|
|
|
NM_152419.3(HGSNAT):c.142G>A (p.Glu48Lys)
|
rs1182131036
|
|
|
NM_152419.3(HGSNAT):c.1433A>C (p.Asn478Thr)
|
|
|
|
NM_152419.3(HGSNAT):c.1433A>G (p.Asn478Ser)
|
|
|
|
NM_152419.3(HGSNAT):c.1465-10T>C
|
rs1804745819
|
|
|
NM_152419.3(HGSNAT):c.1465-17T>A
|
rs764680385
|
|
|
NM_152419.3(HGSNAT):c.1465-4_1465-3delinsGA
|
|
|
|
NM_152419.3(HGSNAT):c.14G>T (p.Gly5Val)
|
|
|
|
NM_152419.3(HGSNAT):c.1516C>G (p.Arg506Gly)
|
|
|
|
NM_152419.3(HGSNAT):c.1532G>A (p.Cys511Tyr)
|
|
|
|
NM_152419.3(HGSNAT):c.1543-20_1543-7delinsTTTCTGAGATAATAATATAAAATG
|
rs2130821034
|
|
|
NM_152419.3(HGSNAT):c.154G>A (p.Asp52Asn)
|
rs1802738082
|
|
|
NM_152419.3(HGSNAT):c.1601A>T (p.Asn534Ile)
|
rs2130821294
|
|
|
NM_152419.3(HGSNAT):c.1612T>C (p.Trp538Arg)
|
|
|
|
NM_152419.3(HGSNAT):c.1613+5G>A
|
|
|
|
NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)
|
rs1372286994
|
|
|
NM_152419.3(HGSNAT):c.1634C>A (p.Thr545Lys)
|
rs377050184
|
|
|
NM_152419.3(HGSNAT):c.1643C>T (p.Ser548Phe)
|
rs1804778997
|
|
|
NM_152419.3(HGSNAT):c.1692G>C (p.Lys564Asn)
|
|
|
|
NM_152419.3(HGSNAT):c.1703C>A (p.Thr568Lys)
|
|
|
|
NM_152419.3(HGSNAT):c.1716C>A (p.Phe572Leu)
|
|
|
|
NM_152419.3(HGSNAT):c.1721A>G (p.Tyr574Cys)
|
rs1177263214
|
|
|
NM_152419.3(HGSNAT):c.1723C>G (p.Pro575Ala)
|
|
|
|
NM_152419.3(HGSNAT):c.1723C>T (p.Pro575Ser)
|
rs754143732
|
|
|
NM_152419.3(HGSNAT):c.1726G>A (p.Gly576Arg)
|
rs1366558211
|
|
|
NM_152419.3(HGSNAT):c.1727-3A>C
|
|
|
|
NM_152419.3(HGSNAT):c.1732A>T (p.Asn578Tyr)
|
|
|
|
NM_152419.3(HGSNAT):c.1742T>C (p.Leu581Pro)
|
|
|
|
NM_152419.3(HGSNAT):c.1749_1750inv (p.Val584Ile)
|
|
|
|
NM_152419.3(HGSNAT):c.174C>G (p.Ile58Met)
|
rs749911696
|
|
|
NM_152419.3(HGSNAT):c.1752C>A (p.Val584=)
|
|
|
|
NM_152419.3(HGSNAT):c.1753G>A (p.Gly585Ser)
|
|
|
|
NM_152419.3(HGSNAT):c.1753G>C (p.Gly585Arg)
|
rs376476836
|
|
|
NM_152419.3(HGSNAT):c.1762G>A (p.Val588Met)
|
|
|
|
NM_152419.3(HGSNAT):c.1772A>C (p.Asn591Thr)
|
rs1804845888
|
|
|
NM_152419.3(HGSNAT):c.1775A>G (p.Tyr592Cys)
|
|
|
|
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs)
|
rs1298170960
|
|
|
NM_152419.3(HGSNAT):c.1786C>T (p.Gln596Ter)
|
rs750824770
|
|
|
NM_152419.3(HGSNAT):c.1789T>G (p.Trp597Gly)
|
|
|
|
NM_152419.3(HGSNAT):c.1796T>C (p.Leu599Pro)
|
rs928930218
|
|
|
NM_152419.3(HGSNAT):c.1801G>C (p.Asp601His)
|
|
|
|
NM_152419.3(HGSNAT):c.1837A>G (p.Ile613Val)
|
rs1266245327
|
|
|
NM_152419.3(HGSNAT):c.1839C>G (p.Ile613Met)
|
|
|
|
NM_152419.3(HGSNAT):c.1858G>A (p.Val620Met)
|
rs1413168448
|
|
|
NM_152419.3(HGSNAT):c.1864A>G (p.Ile622Val)
|
rs2130825945
|
|
|
NM_152419.3(HGSNAT):c.1870T>C (p.Tyr624His)
|
|
|
|
NM_152419.3(HGSNAT):c.1885A>C (p.Lys629Gln)
|
|
|
|
NM_152419.3(HGSNAT):c.1886A>G (p.Lys629Arg)
|
rs1804852352
|
|
|
NM_152419.3(HGSNAT):c.1886AGA[1] (p.Lys630del)
|
rs778163262
|
|
|
NM_152419.3(HGSNAT):c.1892T>C (p.Ile631Thr)
|
|
|
|
NM_152419.3(HGSNAT):c.1901A>C (p.Lys634Thr)
|
rs2130826037
|
|
|
NM_152419.3(HGSNAT):c.199_200insCAT (p.Asn66_Leu67insSer)
|
rs1409093216
|
|
|
NM_152419.3(HGSNAT):c.218C>T (p.Ser73Phe)
|
|
|
|
NM_152419.3(HGSNAT):c.232C>G (p.His78Asp)
|
rs1802741553
|
|
|
NM_152419.3(HGSNAT):c.234+5G>A
|
|
|
|
NM_152419.3(HGSNAT):c.235T>C (p.Cys79Arg)
|
rs1803164820
|
|
|
NM_152419.3(HGSNAT):c.239T>C (p.Leu80Ser)
|
|
|
|
NM_152419.3(HGSNAT):c.253G>A (p.Val85Ile)
|
|
|
|
NM_152419.3(HGSNAT):c.260T>G (p.Val87Gly)
|
rs2130713856
|
|
|
NM_152419.3(HGSNAT):c.263C>T (p.Pro88Leu)
|
|
|
|
NM_152419.3(HGSNAT):c.278C>G (p.Ala93Gly)
|
rs372055513
|
|
|
NM_152419.3(HGSNAT):c.284A>C (p.Lys95Thr)
|
rs374071098
|
|
|
NM_152419.3(HGSNAT):c.284A>G (p.Lys95Arg)
|
rs374071098
|
|
|
NM_152419.3(HGSNAT):c.28G>C (p.Ala10Pro)
|
|
|
|
NM_152419.3(HGSNAT):c.302C>T (p.Ala101Val)
|
|
|
|
NM_152419.3(HGSNAT):c.311G>A (p.Ser104Asn)
|
rs1586712145
|
|
|
NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del)
|
rs1274083689
|
|
|
NM_152419.3(HGSNAT):c.349T>G (p.Leu117Val)
|
|
|
|
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup)
|
rs961025173
|
|
|
NM_152419.3(HGSNAT):c.371+5G>T
|
|
|
|
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys)
|
rs1803172725
|
|
|
NM_152419.3(HGSNAT):c.375G>A (p.Leu125=)
|
rs2130715134
|
|
|
NM_152419.3(HGSNAT):c.386T>C (p.Phe129Ser)
|
rs1803180920
|
|
|
NM_152419.3(HGSNAT):c.387T>A (p.Phe129Leu)
|
rs932582298
|
|
|
NM_152419.3(HGSNAT):c.395T>C (p.Phe132Ser)
|
rs769984670
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NM_152419.3(HGSNAT):c.402C>G (p.Asn134Lys)
|
rs2130715230
|
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NM_152419.3(HGSNAT):c.409C>G (p.Leu137Val)
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NM_152419.3(HGSNAT):c.409C>T (p.Leu137Phe)
|
rs773170952
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NM_152419.3(HGSNAT):c.41C>T (p.Ala14Val)
|
rs2130647887
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NM_152419.3(HGSNAT):c.437T>C (p.Val146Ala)
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NM_152419.3(HGSNAT):c.43_44delinsTT (p.Ala15Leu)
|
rs2130647901
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NM_152419.3(HGSNAT):c.43_72del (p.Ala15_Ala24del)
|
rs2130647831
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NM_152419.3(HGSNAT):c.452G>C (p.Cys151Ser)
|
rs1803184135
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NM_152419.3(HGSNAT):c.458T>C (p.Leu153Pro)
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NM_152419.3(HGSNAT):c.467A>G (p.Asn156Ser)
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NM_152419.3(HGSNAT):c.469G>A (p.Glu157Lys)
|
rs553837106
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NM_152419.3(HGSNAT):c.475C>T (p.Pro159Ser)
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NM_152419.3(HGSNAT):c.490C>T (p.Leu164Phe)
|
rs2130715697
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NM_152419.3(HGSNAT):c.493+4C>G
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NM_152419.3(HGSNAT):c.515T>C (p.Ile172Thr)
|
rs750046807
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NM_152419.3(HGSNAT):c.52C>G (p.Leu18Val)
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NM_152419.3(HGSNAT):c.531C>G (p.Ile177Met)
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NM_152419.3(HGSNAT):c.540A>G (p.Ile180Met)
|
rs1195940980
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NM_152419.3(HGSNAT):c.542C>G (p.Ser181Cys)
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NM_152419.3(HGSNAT):c.548T>G (p.Leu183Arg)
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NM_152419.3(HGSNAT):c.559T>G (p.Leu187Val)
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NM_152419.3(HGSNAT):c.563G>A (p.Ser188Asn)
|
rs2130722111
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NM_152419.3(HGSNAT):c.580A>C (p.Asn194His)
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NM_152419.3(HGSNAT):c.599T>A (p.Ile200Lys)
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NM_152419.3(HGSNAT):c.604T>C (p.Ser202Pro)
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NM_152419.3(HGSNAT):c.604_605delinsAA (p.Ser202Asn)
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NM_152419.3(HGSNAT):c.605C>G (p.Ser202Cys)
|
rs1385208624
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NM_152419.3(HGSNAT):c.614C>A (p.Thr205Asn)
|
rs1454265686
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NM_152419.3(HGSNAT):c.620G>A (p.Arg207His)
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NM_152419.3(HGSNAT):c.64C>G (p.Leu22Val)
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NM_152419.3(HGSNAT):c.653G>A (p.Arg218Lys)
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NM_152419.3(HGSNAT):c.667G>C (p.Asp223His)
|
rs1025285008
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NM_152419.3(HGSNAT):c.675T>G (p.Asp225Glu)
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NM_152419.3(HGSNAT):c.680A>G (p.Gln227Arg)
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NM_152419.3(HGSNAT):c.685G>A (p.Ala229Thr)
|
rs1803593895
|
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NM_152419.3(HGSNAT):c.701C>G (p.Ser234Cys)
|
rs1586725294
|
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NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
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NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)
|
rs727503962
|
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NM_152419.3(HGSNAT):c.725G>A (p.Ser242Asn)
|
rs2130746199
|
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NM_152419.3(HGSNAT):c.727G>A (p.Val243Met)
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NM_152419.3(HGSNAT):c.743+4T>C
|
rs765682296
|
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NM_152419.3(HGSNAT):c.743G>C (p.Gly248Ala)
|
rs1324238938
|
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NM_152419.3(HGSNAT):c.743G>T (p.Gly248Val)
|
rs1324238938
|
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NM_152419.3(HGSNAT):c.744-16T>C
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NM_152419.3(HGSNAT):c.74C>G (p.Pro25Arg)
|
rs2130648242
|
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NM_152419.3(HGSNAT):c.756_761del (p.Ile252_Leu253del)
|
rs2130750552
|
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NM_152419.3(HGSNAT):c.757C>G (p.Leu253Val)
|
rs2130750568
|
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NM_152419.3(HGSNAT):c.778G>A (p.Gly260Arg)
|
rs2130750679
|
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NM_152419.3(HGSNAT):c.820+6A>G
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NM_152419.3(HGSNAT):c.82T>C (p.Ser28Pro)
|
rs1802482509
|
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NM_152419.3(HGSNAT):c.877A>G (p.Ile293Val)
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NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu)
|
rs1490698793
|
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NM_152419.3(HGSNAT):c.8G>C (p.Gly3Ala)
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NM_152419.3(HGSNAT):c.900A>G (p.Ile300Met)
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NM_152419.3(HGSNAT):c.908G>A (p.Arg303Gln)
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NM_152419.3(HGSNAT):c.936G>T (p.Gly312=)
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NM_152419.3(HGSNAT):c.945_946delinsTC (p.Trp316Arg)
|
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NM_152419.3(HGSNAT):c.952A>C (p.Ser318Arg)
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NM_152419.3(HGSNAT):c.96T>A (p.Asp32Glu)
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NM_152419.3(HGSNAT):c.981_983del (p.Ile328del)
|
rs752374933
|
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NM_152419.3(HGSNAT):c.983T>C (p.Ile328Thr)
|
rs906833070
|
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NM_152419.3(HGSNAT):c.986T>C (p.Val329Ala)
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NM_152419.3(HGSNAT):c.98C>T (p.Ala33Val)
|
rs1802483575
|
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NM_152419.3(HGSNAT):c.994A>G (p.Asn332Asp)
|
|
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NM_198586.3(NHLRC1):c.1008A>G (p.Ala336=)
|
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NM_198586.3(NHLRC1):c.1034G>A (p.Cys345Tyr)
|
rs781739043
|
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NM_198586.3(NHLRC1):c.1039G>A (p.Gly347Arg)
|
rs1783733675
|
|
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NM_198586.3(NHLRC1):c.1076T>G (p.Val359Gly)
|
|
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NM_198586.3(NHLRC1):c.107G>C (p.Arg36Pro)
|
rs764691077
|
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NM_198586.3(NHLRC1):c.10G>A (p.Glu4Lys)
|
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NM_198586.3(NHLRC1):c.1109C>A (p.Thr370Asn)
|
rs1422730903
|
|
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NM_198586.3(NHLRC1):c.1120G>A (p.Glu374Lys)
|
rs771702699
|
|
|
NM_198586.3(NHLRC1):c.1183G>A (p.Gly395Arg)
|
rs753959228
|
|
|
NM_198586.3(NHLRC1):c.1185del (p.Ter396AspextTer?)
|
|
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|
NM_198586.3(NHLRC1):c.121C>T (p.Pro41Ser)
|
|
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|
NM_198586.3(NHLRC1):c.154C>G (p.Leu52Val)
|
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NM_198586.3(NHLRC1):c.180C>A (p.His60Gln)
|
|
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NM_198586.3(NHLRC1):c.182C>A (p.Pro61Gln)
|
rs1783757283
|
|
|
NM_198586.3(NHLRC1):c.182C>T (p.Pro61Leu)
|
rs1783757283
|
|
|
NM_198586.3(NHLRC1):c.184C>T (p.Arg62Cys)
|
rs761458140
|
|
|
NM_198586.3(NHLRC1):c.185G>A (p.Arg62His)
|
rs796052754
|
|
|
NM_198586.3(NHLRC1):c.185G>C (p.Arg62Pro)
|
|
|
|
NM_198586.3(NHLRC1):c.199G>A (p.Glu67Lys)
|
rs779507031
|
|
|
NM_198586.3(NHLRC1):c.203G>C (p.Cys68Ser)
|
rs1783756475
|
|
|
NM_198586.3(NHLRC1):c.215G>A (p.Arg72Lys)
|
rs1582030466
|
|
|
NM_198586.3(NHLRC1):c.218G>T (p.Arg73Leu)
|
rs1280991443
|
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|
NM_198586.3(NHLRC1):c.226C>T (p.Arg76Trp)
|
|
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|
NM_198586.3(NHLRC1):c.227G>A (p.Arg76Gln)
|
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|
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NM_198586.3(NHLRC1):c.23G>A (p.Ser8Asn)
|
rs2150703425
|
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NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr)
|
rs1582030401
|
|
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NM_198586.3(NHLRC1):c.26G>A (p.Gly9Glu)
|
|
|
|
NM_198586.3(NHLRC1):c.26G>T (p.Gly9Val)
|
|
|
|
NM_198586.3(NHLRC1):c.272A>G (p.Glu91Gly)
|
|
|
|
NM_198586.3(NHLRC1):c.293G>T (p.Arg98Leu)
|
rs1340355518
|
|
|
NM_198586.3(NHLRC1):c.301C>T (p.Pro101Ser)
|
rs1484414595
|
|
|
NM_198586.3(NHLRC1):c.307G>A (p.Ala103Thr)
|
rs568131096
|
|
|
NM_198586.3(NHLRC1):c.314G>T (p.Arg105Leu)
|
rs1166657109
|
|
|
NM_198586.3(NHLRC1):c.317C>G (p.Ala106Gly)
|
rs1255416149
|
|
|
NM_198586.3(NHLRC1):c.319G>C (p.Ala107Pro)
|
rs796052755
|
|
|
NM_198586.3(NHLRC1):c.323C>G (p.Pro108Arg)
|
rs1783752059
|
|
|
NM_198586.3(NHLRC1):c.34_35delinsGG (p.Leu12Gly)
|
rs2150703412
|
|
|
NM_198586.3(NHLRC1):c.356C>T (p.Thr119Ile)
|
rs1783751214
|
|
|
NM_198586.3(NHLRC1):c.392G>T (p.Gly131Val)
|
rs1783749949
|
|
|
NM_198586.3(NHLRC1):c.394C>A (p.Leu132Met)
|
rs1367848969
|
|
|
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr)
|
rs886061254
|
|
|
NM_198586.3(NHLRC1):c.39T>G (p.His13Gln)
|
rs2150703410
|
|
|
NM_198586.3(NHLRC1):c.406C>T (p.Pro136Ser)
|
rs1561882043
|
|
|
NM_198586.3(NHLRC1):c.407C>T (p.Pro136Leu)
|
rs1783749565
|
|
|
NM_198586.3(NHLRC1):c.423_425del (p.Val144del)
|
rs1783748374
|
|
|
NM_198586.3(NHLRC1):c.434A>C (p.His145Pro)
|
rs1783748075
|
|
|
NM_198586.3(NHLRC1):c.449G>A (p.Arg150His)
|
rs749599233
|
|
|
NM_198586.3(NHLRC1):c.452T>A (p.Val151Asp)
|
|
|
|
NM_198586.3(NHLRC1):c.454A>G (p.Lys152Glu)
|
|
|
|
NM_198586.3(NHLRC1):c.456G>C (p.Lys152Asn)
|
rs2150703098
|
|
|
NM_198586.3(NHLRC1):c.469G>A (p.Gly157Arg)
|
|
|
|
NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu)
|
rs781300542
|
|
|
NM_198586.3(NHLRC1):c.485A>C (p.His162Pro)
|
rs1217974765
|
|
|
NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu)
|
rs1554136449
|
|
|
NM_198586.3(NHLRC1):c.4_5delinsAA (p.Ala2Lys)
|
rs796052757
|
|
|
NM_198586.3(NHLRC1):c.519C>T (p.Asp173=)
|
|
|
|
NM_198586.3(NHLRC1):c.52G>A (p.Glu18Lys)
|
rs771805307
|
|
|
NM_198586.3(NHLRC1):c.551A>C (p.Asn184Thr)
|
|
|
|
NM_198586.3(NHLRC1):c.553G>C (p.Asp185His)
|
|
|
|
NM_198586.3(NHLRC1):c.565G>T (p.Val189Phe)
|
|
|
|
NM_198586.3(NHLRC1):c.637G>A (p.Gly213Ser)
|
rs1783743169
|
|
|
NM_198586.3(NHLRC1):c.642A>T (p.Gln214His)
|
rs754756237
|
|
|
NM_198586.3(NHLRC1):c.646T>G (p.Ser216Ala)
|
|
|
|
NM_198586.3(NHLRC1):c.659G>T (p.Gly220Val)
|
rs1449381352
|
|
|
NM_198586.3(NHLRC1):c.677A>T (p.Gln226Leu)
|
rs1783742476
|
|
|
NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile)
|
rs1060503098
|
|
|
NM_198586.3(NHLRC1):c.695C>A (p.Thr232Asn)
|
rs371640803
|
|
|
NM_198586.3(NHLRC1):c.695C>T (p.Thr232Ile)
|
|
|
|
NM_198586.3(NHLRC1):c.704A>G (p.Glu235Gly)
|
rs1173727000
|
|
|
NM_198586.3(NHLRC1):c.713C>A (p.Ser238Tyr)
|
rs747276703
|
|
|
NM_198586.3(NHLRC1):c.729C>G (p.Asp243Glu)
|
rs146420615
|
|
|
NM_198586.3(NHLRC1):c.733G>A (p.Asp245Asn)
|
rs2150702925
|
|
|
NM_198586.3(NHLRC1):c.746G>C (p.Gly249Ala)
|
|
|
|
NM_198586.3(NHLRC1):c.754C>T (p.Arg252Trp)
|
rs1244886517
|
|
|
NM_198586.3(NHLRC1):c.755G>C (p.Arg252Pro)
|
|
|
|
NM_198586.3(NHLRC1):c.759A>G (p.Arg253=)
|
|
|
|
NM_198586.3(NHLRC1):c.775G>T (p.Ala259Ser)
|
rs1783740022
|
|
|
NM_198586.3(NHLRC1):c.797G>A (p.Gly266Glu)
|
|
|
|
NM_198586.3(NHLRC1):c.809C>A (p.Ser270Tyr)
|
rs2150702863
|
|
|
NM_198586.3(NHLRC1):c.820G>A (p.Gly274Arg)
|
rs568213488
|
|
|
NM_198586.3(NHLRC1):c.820G>C (p.Gly274Arg)
|
rs568213488
|
|
|
NM_198586.3(NHLRC1):c.827T>C (p.Ile276Thr)
|
|
|
|
NM_198586.3(NHLRC1):c.845C>G (p.Pro282Arg)
|
rs2150702844
|
|
|
NM_198586.3(NHLRC1):c.845C>T (p.Pro282Leu)
|
rs2150702844
|
|
|
NM_198586.3(NHLRC1):c.880G>A (p.Val294Met)
|
|
|
|
NM_198586.3(NHLRC1):c.893G>T (p.Ser298Ile)
|
rs1783736655
|
|
|
NM_198586.3(NHLRC1):c.896C>T (p.Ser299Leu)
|
|
|
|
NM_198586.3(NHLRC1):c.930T>C (p.Phe310=)
|
|
|
|
NM_198586.3(NHLRC1):c.935T>C (p.Leu312Pro)
|
rs2150702790
|
|
|
NM_198586.3(NHLRC1):c.943T>A (p.Tyr315Asn)
|
|
|
|
NM_198586.3(NHLRC1):c.970G>T (p.Ala324Ser)
|
|
|
|
NM_198586.3(NHLRC1):c.98T>G (p.Phe33Cys)
|
rs757759398
|
|