NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_000155.4(GALT):c.378-27G>C
|
rs41274865
|
0.04615
|
NM_000155.4(GALT):c.508-24G>A
|
rs41274867
|
0.04612
|
NM_000155.4(GALT):c.507+62G>A
|
rs2277202
|
0.04610
|
NM_000155.4(GALT):c.945T>C (p.His315=)
|
rs61735982
|
0.03311
|
NM_000155.4(GALT):c.876G>A (p.Thr292=)
|
rs1055607
|
0.02790
|
NM_000155.4(GALT):c.652C>T (p.Leu218=)
|
rs2070075
|
0.02537
|
NM_000155.4(GALT):c.*148T>C
|
rs115985083
|
0.00597
|
NM_000155.4(GALT):c.*147A>G
|
rs73501024
|
0.00548
|
NM_000155.4(GALT):c.879C>T (p.Ser293=)
|
rs115527942
|
0.00407
|
NM_000155.4(GALT):c.*105A>G
|
rs183251779
|
0.00329
|
NM_000155.4(GALT):c.510C>A (p.Ile170=)
|
rs61735984
|
0.00290
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000155.4(GALT):c.919T>A (p.Ser307Thr)
|
rs61735983
|
0.00101
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_000155.4(GALT):c.687+9G>C
|
rs117998880
|
0.00057
|
NM_000155.3(GALT):c.-88G>A
|
rs144505931
|
0.00042
|
NM_000155.4(GALT):c.*8G>A
|
rs370285476
|
0.00029
|
NM_000155.4(GALT):c.498T>C (p.Pro166=)
|
rs193922249
|
0.00029
|
NM_000155.4(GALT):c.253-5G>A
|
rs762136953
|
0.00026
|
NM_000155.3(GALT):c.-121C>G
|
rs368046870
|
0.00021
|
NM_000155.4(GALT):c.1135G>A (p.Ala379Thr)
|
rs780064274
|
0.00021
|
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
0.00017
|
NM_000155.4(GALT):c.564+15G>A
|
rs111033732
|
0.00015
|
NM_000155.4(GALT):c.1132A>G (p.Ile378Val)
|
rs111033819
|
0.00014
|
NM_000155.4(GALT):c.688-4C>T
|
rs374014228
|
0.00014
|
NM_000155.4(GALT):c.507+12C>T
|
rs199572263
|
0.00013
|
NM_000155.4(GALT):c.378-12G>A
|
rs151309174
|
0.00011
|
NM_000155.4(GALT):c.864C>T (p.Asn288=)
|
rs372134800
|
0.00010
|
NM_000155.4(GALT):c.1128A>T (p.Ala376=)
|
rs781374930
|
0.00006
|
NM_000155.4(GALT):c.211C>T (p.Leu71Phe)
|
rs143994870
|
0.00006
|
NM_000155.4(GALT):c.252+9G>A
|
rs200439493
|
0.00006
|
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)
|
rs111033728
|
0.00006
|
NM_000155.4(GALT):c.821-46G>T
|
rs111033776
|
0.00006
|
NM_000155.4(GALT):c.253-19A>G
|
rs764103663
|
0.00005
|
NM_000155.4(GALT):c.253-2A>G
|
rs111033661
|
0.00005
|
NM_000155.4(GALT):c.611G>A (p.Arg204Gln)
|
rs111033740
|
0.00005
|
NM_000155.4(GALT):c.667C>T (p.Arg223Cys)
|
rs111033750
|
0.00005
|
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)
|
rs111033810
|
0.00004
|
NM_000155.4(GALT):c.1059+8C>T
|
rs373165440
|
0.00004
|
NM_000155.4(GALT):c.197C>T (p.Pro66Leu)
|
rs111033656
|
0.00004
|
NM_000155.4(GALT):c.270T>C (p.Asp90=)
|
rs1300102277
|
0.00004
|
NM_000155.4(GALT):c.44C>T (p.Ser15Leu)
|
rs759270191
|
0.00004
|
NM_000155.4(GALT):c.459A>G (p.Ala153=)
|
rs141498518
|
0.00004
|
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)
|
rs111033715
|
0.00004
|
NM_000155.4(GALT):c.82+8C>T
|
rs368244179
|
0.00004
|
NM_000155.4(GALT):c.999G>C (p.Arg333=)
|
rs1054951172
|
0.00004
|
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)
|
rs111033814
|
0.00003
|
NM_000155.4(GALT):c.1059+24G>A
|
rs111033840
|
0.00003
|
NM_000155.4(GALT):c.200G>A (p.Arg67His)
|
rs758430398
|
0.00003
|
NM_000155.4(GALT):c.210T>G (p.Pro70=)
|
rs528320335
|
0.00003
|
NM_000155.4(GALT):c.231G>A (p.Gly77=)
|
rs1269693119
|
0.00003
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
0.00003
|
NM_000155.4(GALT):c.378-9A>G
|
rs371470838
|
0.00003
|
NM_000155.4(GALT):c.413C>T (p.Thr138Met)
|
rs111033686
|
0.00003
|
NM_000155.4(GALT):c.442C>T (p.Arg148Trp)
|
rs111033693
|
0.00003
|
NM_000155.4(GALT):c.602G>A (p.Arg201His)
|
rs111033735
|
0.00003
|
NM_000155.4(GALT):c.777G>A (p.Arg259=)
|
rs111033761
|
0.00003
|
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys)
|
rs367543262
|
0.00003
|
NM_000155.4(GALT):c.904+2T>G
|
rs886063885
|
0.00003
|
NM_000155.4(GALT):c.957C>T (p.His319=)
|
rs111033792
|
0.00003
|
NM_000155.4(GALT):c.1059+11A>G
|
rs886042405
|
0.00002
|
NM_000155.4(GALT):c.1077G>A (p.Arg359=)
|
rs148967210
|
0.00002
|
NM_000155.4(GALT):c.108G>C (p.Pro36=)
|
rs1362198825
|
0.00002
|
NM_000155.4(GALT):c.1116C>T (p.Asp372=)
|
rs757314660
|
0.00002
|
NM_000155.4(GALT):c.1134C>T (p.Ile378=)
|
rs756093267
|
0.00002
|
NM_000155.4(GALT):c.233C>T (p.Ala78Val)
|
rs981018740
|
0.00002
|
NM_000155.4(GALT):c.267C>T (p.Tyr89=)
|
rs145628307
|
0.00002
|
NM_000155.4(GALT):c.507+10G>A
|
rs753052473
|
0.00002
|
NM_000155.4(GALT):c.507+17C>T
|
rs747136664
|
0.00002
|
NM_000155.4(GALT):c.564+9G>A
|
rs373302496
|
0.00002
|
NM_000155.4(GALT):c.609G>A (p.Glu203=)
|
rs770451714
|
0.00002
|
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744
|
0.00002
|
NM_000155.4(GALT):c.688-2A>C
|
rs398123185
|
0.00002
|
NM_000155.4(GALT):c.68C>A (p.Thr23Asn)
|
rs1365354002
|
0.00002
|
NM_000155.4(GALT):c.799C>T (p.Leu267=)
|
rs764006034
|
0.00002
|
NM_000155.4(GALT):c.803C>A (p.Thr268Asn)
|
rs111033847
|
0.00002
|
NM_000155.4(GALT):c.905-5G>A
|
rs111258262
|
0.00002
|
NM_000155.4(GALT):c.997C>G (p.Arg333Gly)
|
rs111033800
|
0.00002
|
NM_000155.4(GALT):c.1014C>G (p.Gly338=)
|
rs111033811
|
0.00001
|
NM_000155.4(GALT):c.1017C>T (p.Tyr339=)
|
rs759417724
|
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.1038G>A (p.Gln346=)
|
rs1821202634
|
0.00001
|
NM_000155.4(GALT):c.1060-10C>T
|
rs1245856299
|
0.00001
|
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg)
|
rs111033824
|
0.00001
|
NM_000155.4(GALT):c.1139G>A (p.Ter380=)
|
rs749047676
|
0.00001
|
NM_000155.4(GALT):c.142C>T (p.Arg48Cys)
|
rs886042088
|
0.00001
|
NM_000155.4(GALT):c.18C>T (p.Thr6=)
|
rs765932955
|
0.00001
|
NM_000155.4(GALT):c.199C>T (p.Arg67Cys)
|
rs111033658
|
0.00001
|
NM_000155.4(GALT):c.241G>C (p.Ala81Pro)
|
rs111033665
|
0.00001
|
NM_000155.4(GALT):c.252+1G>A
|
rs768154316
|
0.00001
|
NM_000155.4(GALT):c.253-6C>T
|
rs753450355
|
0.00001
|
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)
|
rs111033666
|
0.00001
|
NM_000155.4(GALT):c.2T>G (p.Met1Arg)
|
rs771702963
|
0.00001
|
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)
|
rs1225091358
|
0.00001
|
NM_000155.4(GALT):c.315T>C (p.Asp105=)
|
rs1487519949
|
0.00001
|
NM_000155.4(GALT):c.328+7T>C
|
rs774350978
|
0.00001
|
NM_000155.4(GALT):c.329-2A>C
|
rs111033667
|
0.00001
|
NM_000155.4(GALT):c.329-7A>T
|
rs1320038166
|
0.00001
|
NM_000155.4(GALT):c.329-8_329-7dup
|
rs775960045
|
0.00001
|
NM_000155.4(GALT):c.366T>G (p.Ala122=)
|
rs777382338
|
0.00001
|
NM_000155.4(GALT):c.367C>G (p.Arg123Gly)
|
rs111033674
|
0.00001
|
NM_000155.4(GALT):c.377+2dup
|
rs763662108
|
0.00001
|
NM_000155.4(GALT):c.378-6A>T
|
rs756647683
|
0.00001
|
NM_000155.4(GALT):c.378-7C>T
|
rs751084584
|
0.00001
|
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)
|
rs111033682
|
0.00001
|
NM_000155.4(GALT):c.390C>T (p.Cys130=)
|
rs1410761611
|
0.00001
|
NM_000155.4(GALT):c.396C>A (p.His132Gln)
|
rs367543256
|
0.00001
|
NM_000155.4(GALT):c.425T>A (p.Met142Lys)
|
rs111033695
|
0.00001
|
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)
|
rs111033694
|
0.00001
|
NM_000155.4(GALT):c.456T>C (p.Asp152=)
|
rs763835338
|
0.00001
|
NM_000155.4(GALT):c.469G>A (p.Val157Ile)
|
rs1173928130
|
0.00001
|
NM_000155.4(GALT):c.496C>G (p.Pro166Ala)
|
rs367543257
|
0.00001
|
NM_000155.4(GALT):c.556C>T (p.His186Tyr)
|
rs111033725
|
0.00001
|
NM_000155.4(GALT):c.564+7G>A
|
rs760189807
|
0.00001
|
NM_000155.4(GALT):c.567A>G (p.Val189=)
|
rs1346797747
|
0.00001
|
NM_000155.4(GALT):c.575G>A (p.Ser192Asn)
|
rs111033734
|
0.00001
|
NM_000155.4(GALT):c.590A>G (p.Asp197Gly)
|
rs1554709359
|
0.00001
|
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)
|
rs111033739
|
0.00001
|
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)
|
rs111033736
|
0.00001
|
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)
|
rs111033737
|
0.00001
|
NM_000155.4(GALT):c.628A>G (p.Lys210Glu)
|
rs896091797
|
0.00001
|
NM_000155.4(GALT):c.632G>C (p.Ser211Thr)
|
rs3824553
|
0.00001
|
NM_000155.4(GALT):c.663C>T (p.Tyr221=)
|
rs755000603
|
0.00001
|
NM_000155.4(GALT):c.678A>G (p.Leu226=)
|
rs777577533
|
0.00001
|
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)
|
rs111033749
|
0.00001
|
NM_000155.4(GALT):c.692G>A (p.Arg231His)
|
rs111033754
|
0.00001
|
NM_000155.4(GALT):c.702A>G (p.Leu234=)
|
rs1767207852
|
0.00001
|
NM_000155.4(GALT):c.752A>C (p.Tyr251Ser)
|
rs111033755
|
0.00001
|
NM_000155.4(GALT):c.753C>T (p.Tyr251=)
|
rs367543261
|
0.00001
|
NM_000155.4(GALT):c.760C>T (p.Leu254=)
|
rs532126218
|
0.00001
|
NM_000155.4(GALT):c.762G>A (p.Leu254=)
|
rs748639317
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000155.4(GALT):c.773G>A (p.Arg258His)
|
rs773766027
|
0.00001
|
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)
|
rs786204763
|
0.00001
|
NM_000155.4(GALT):c.787C>T (p.Arg263Trp)
|
rs1448701207
|
0.00001
|
NM_000155.4(GALT):c.788G>A (p.Arg263Gln)
|
rs777023967
|
0.00001
|
NM_000155.4(GALT):c.795T>G (p.Pro265=)
|
rs762866149
|
0.00001
|
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)
|
rs111033766
|
0.00001
|
NM_000155.4(GALT):c.82+15G>A
|
rs752065555
|
0.00001
|
NM_000155.4(GALT):c.820+4A>C
|
rs398123186
|
0.00001
|
NM_000155.4(GALT):c.821-7A>G
|
rs767337193
|
0.00001
|
NM_000155.4(GALT):c.843G>A (p.Lys281=)
|
rs368298966
|
0.00001
|
NM_000155.4(GALT):c.875C>T (p.Thr292Met)
|
rs369227288
|
0.00001
|
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)
|
rs111033783
|
0.00001
|
NM_000155.4(GALT):c.938G>A (p.Trp313Ter)
|
rs1410159094
|
0.00001
|
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)
|
rs111033790
|
0.00001
|
NM_000155.4(GALT):c.958G>A (p.Ala320Thr)
|
rs111033795
|
0.00001
|
NM_000155.4(GALT):c.961C>T (p.His321Tyr)
|
rs367543266
|
0.00001
|
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)
|
rs111033794
|
0.00001
|
NM_000155.4(GALT):c.975G>A (p.Pro325=)
|
rs762558133
|
0.00001
|
NM_000155.4(GALT):c.978C>G (p.Leu326=)
|
rs1341964661
|
0.00001
|
NM_000155.4(GALT):c.982C>T (p.Arg328Cys)
|
rs144993986
|
0.00001
|
NM_000155.4(GALT):c.983G>A (p.Arg328His)
|
rs111033802
|
0.00001
|
NM_000155.4(GALT):c.998G>A (p.Arg333Gln)
|
rs111033808
|
0.00001
|
NC000009.12:g.(34646588_34655077)del
|
|
|
NC_000009.11:g.(34644527_34645701)_(34650746_34653247)del
|
|
|
NC_000009.11:g.(?_32453279)_(37785041_?)dup
|
|
|
NC_000009.11:g.(?_34646573)_(34650446_?)del
|
|
|
NC_000009.11:g.(?_34646579)_(34655067_?)del
|
|
|
NC_000009.12:g.(?_34645559)_(34648914_?)del
|
|
|
NC_000009.12:g.(?_34645559)_(34649574_?)del
|
|
|
NC_000009.12:g.(?_34645559)_(34651238_?)del
|
|
|
NC_000009.12:g.(?_34646586)_(34651238_?)del
|
|
|
NC_000009.12:g.(?_34646609)_(34650459_?)del
|
|
|
NC_000009.12:g.34646581A>C
|
|
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
NM_000155.2(GALT):c.[-1039_753del;820+50_*789delinsGAATAGACCCCA]
|
|
|
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
|
|
|
NM_000155.3(GALT):c.-130_-129insCAGT
|
rs111033640
|
|
NM_000155.3(GALT):c.-38G>A
|
rs886063883
|
|
NM_000155.3(GALT):c.-96T>G
|
rs1554709099
|
|
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
|
|
|
NM_000155.3(GALT):c.[652C>T;c.940A>G]
|
|
|
NM_000155.4(GALT):c.*138C>T
|
rs1821232966
|
|
NM_000155.4(GALT):c.*18C>G
|
rs771618527
|
|
NM_000155.4(GALT):c.*96A>C
|
rs967576667
|
|
NM_000155.4(GALT):c.1001A>G (p.Lys334Arg)
|
rs111033809
|
|
NM_000155.4(GALT):c.1006A>G (p.Met336Val)
|
rs111033810
|
|
NM_000155.4(GALT):c.1008G>A (p.Met336Ile)
|
rs770770917
|
|
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)
|
rs111033836
|
|
NM_000155.4(GALT):c.1011T>G (p.Val337=)
|
|
|
NM_000155.4(GALT):c.1018G>T (p.Glu340Ter)
|
rs111033806
|
|
NM_000155.4(GALT):c.1024C>A (p.Leu342Ile)
|
rs111033812
|
|
NM_000155.4(GALT):c.1030C>T (p.Gln344Ter)
|
rs111033814
|
|
NM_000155.4(GALT):c.1042G>A (p.Asp348Asn)
|
|
|
NM_000155.4(GALT):c.1048del (p.Thr350fs)
|
rs775762045
|
|
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn)
|
rs775317639
|
|
NM_000155.4(GALT):c.1049C>G (p.Thr350Ser)
|
|
|
NM_000155.4(GALT):c.1049C>T (p.Thr350Ile)
|
rs775317639
|
|
NM_000155.4(GALT):c.1052del (p.Pro351fs)
|
rs111033813
|
|
NM_000155.4(GALT):c.1054G>C (p.Glu352Gln)
|
|
|
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly)
|
rs1821203474
|
|
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)
|
rs111033818
|
|
NM_000155.4(GALT):c.1059+10C>G
|
|
|
NM_000155.4(GALT):c.1059+15C>T
|
|
|
NM_000155.4(GALT):c.1059+16_1059+17insT
|
|
|
NM_000155.4(GALT):c.1059+17G>C
|
|
|
NM_000155.4(GALT):c.1059+19C>T
|
|
|
NM_000155.4(GALT):c.1059+1G>T
|
rs1554709516
|
|
NM_000155.4(GALT):c.1059+7A>C
|
rs2132346581
|
|
NM_000155.4(GALT):c.1059+7A>G
|
|
|
NM_000155.4(GALT):c.1059+8C>A
|
|
|
NM_000155.4(GALT):c.1060-1G>A
|
rs367543268
|
|
NM_000155.4(GALT):c.1060-2A>G
|
|
|
NM_000155.4(GALT):c.1060-331G>C
|
rs2132347271
|
|
NM_000155.4(GALT):c.1060-4C>G
|
|
|
NM_000155.4(GALT):c.1060-9C>T
|
|
|
NM_000155.4(GALT):c.1065A>G (p.Ala355=)
|
|
|
NM_000155.4(GALT):c.1071A>G (p.Arg357=)
|
rs1587241773
|
|
NM_000155.4(GALT):c.1080A>T (p.Ala360=)
|
rs2132347971
|
|
NM_000155.4(GALT):c.1085C>T (p.Pro362Leu)
|
rs1821228380
|
|
NM_000155.4(GALT):c.1086T>G (p.Pro362=)
|
rs2132347985
|
|
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys)
|
rs367543273
|
|
NM_000155.4(GALT):c.1087G>T (p.Glu363Ter)
|
|
|
NM_000155.4(GALT):c.108G>A (p.Pro36=)
|
rs1362198825
|
|
NM_000155.4(GALT):c.1095T>C (p.His365=)
|
rs765630722
|
|
NM_000155.4(GALT):c.1098C>T (p.Tyr366=)
|
|
|
NM_000155.4(GALT):c.1102C>T (p.Leu368=)
|
rs758706590
|
|
NM_000155.4(GALT):c.1107G>A (p.Gly369=)
|
|
|
NM_000155.4(GALT):c.1108C>T (p.Gln370Ter)
|
rs111033823
|
|
NM_000155.4(GALT):c.1117_1118del (p.Arg373fs)
|
|
|
NM_000155.4(GALT):c.1128A>G (p.Ala376=)
|
rs781374930
|
|
NM_000155.4(GALT):c.1131C>T (p.Thr377=)
|
|
|
NM_000155.4(GALT):c.113A>C (p.Gln38Pro)
|
rs111033646
|
|
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys)
|
rs111033827
|
|
NM_000155.4(GALT):c.127_130del (p.Leu43fs)
|
|
|
NM_000155.4(GALT):c.129G>T (p.Leu43=)
|
rs767903479
|
|
NM_000155.4(GALT):c.130G>A (p.Val44Met)
|
rs111033647
|
|
NM_000155.4(GALT):c.132del (p.Ser45fs)
|
rs1554709139
|
|
NM_000155.4(GALT):c.133T>C (p.Ser45Pro)
|
rs2132341560
|
|
NM_000155.4(GALT):c.134C>A (p.Ser45Ter)
|
rs111033652
|
|
NM_000155.4(GALT):c.134C>T (p.Ser45Leu)
|
rs111033652
|
|
NM_000155.4(GALT):c.141C>T (p.His47=)
|
rs2132341583
|
|
NM_000155.4(GALT):c.142C>A (p.Arg48Ser)
|
rs886042088
|
|
NM_000155.4(GALT):c.14_23dup (p.Gln9fs)
|
rs1554709110
|
|
NM_000155.4(GALT):c.151C>A (p.Arg51=)
|
|
|
NM_000155.4(GALT):c.152G>A (p.Arg51Gln)
|
rs111033648
|
|
NM_000155.4(GALT):c.152G>T (p.Arg51Leu)
|
rs111033648
|
|
NM_000155.4(GALT):c.153G>A (p.Arg51=)
|
rs2132341618
|
|
NM_000155.4(GALT):c.157T>A (p.Trp53Arg)
|
rs1131691837
|
|
NM_000155.4(GALT):c.157T>C (p.Trp53Arg)
|
rs1131691837
|
|
NM_000155.4(GALT):c.15A>G (p.Gly5=)
|
rs2132340741
|
|
NM_000155.4(GALT):c.162G>A (p.Gln54=)
|
rs766778777
|
|
NM_000155.4(GALT):c.164del (p.Gly55fs)
|
rs1554709146
|
|
NM_000155.4(GALT):c.165_174del (p.Gln56fs)
|
|
|
NM_000155.4(GALT):c.173A>T (p.Glu58Val)
|
|
|
NM_000155.4(GALT):c.174G>A (p.Glu58=)
|
rs754140417
|
|
NM_000155.4(GALT):c.177C>T (p.Pro59=)
|
|
|
NM_000155.4(GALT):c.180del (p.Gln60fs)
|
rs1554709148
|
|
NM_000155.4(GALT):c.183T>G (p.Leu61=)
|
rs2132341678
|
|
NM_000155.4(GALT):c.189dup (p.Thr64fs)
|
rs1554709151
|
|
NM_000155.4(GALT):c.18C>G (p.Thr6=)
|
|
|
NM_000155.4(GALT):c.18del (p.Asp7fs)
|
rs111033638
|
|
NM_000155.4(GALT):c.192A>T (p.Thr64=)
|
rs2132341711
|
|
NM_000155.4(GALT):c.194T>C (p.Val65Ala)
|
|
|
NM_000155.4(GALT):c.19G>T (p.Asp7Tyr)
|
rs1469998825
|
|
NM_000155.4(GALT):c.1A>C (p.Met1Leu)
|
|
|
NM_000155.4(GALT):c.1A>G (p.Met1Val)
|
rs111033639
|
|
NM_000155.4(GALT):c.200del (p.Arg67fs)
|
rs2132341744
|
|
NM_000155.4(GALT):c.203A>C (p.His68Pro)
|
rs193922247
|
|
NM_000155.4(GALT):c.203A>G (p.His68Arg)
|
rs193922247
|
|
NM_000155.4(GALT):c.209del (p.Pro70fs)
|
|
|
NM_000155.4(GALT):c.20del (p.Asp7fs)
|
|
|
NM_000155.4(GALT):c.210T>A (p.Pro70=)
|
|
|
NM_000155.4(GALT):c.210T>C (p.Pro70=)
|
|
|
NM_000155.4(GALT):c.213dup (p.Asn72fs)
|
|
|
NM_000155.4(GALT):c.216C>T (p.Asn72=)
|
rs2132341779
|
|
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)
|
rs111033663
|
|
NM_000155.4(GALT):c.231_233delinsT (p.Ala78fs)
|
|
|
NM_000155.4(GALT):c.238C>T (p.Arg80Ter)
|
rs111033664
|
|
NM_000155.4(GALT):c.241G>A (p.Ala81Thr)
|
rs111033665
|
|
NM_000155.4(GALT):c.247G>A (p.Gly83Arg)
|
rs111033660
|
|
NM_000155.4(GALT):c.24T>G (p.Pro8=)
|
|
|
NM_000155.4(GALT):c.252+10T>C
|
rs2132341894
|
|
NM_000155.4(GALT):c.252+13_252+14del
|
|
|
NM_000155.4(GALT):c.252+2T>G
|
|
|
NM_000155.4(GALT):c.252+7C>T
|
|
|
NM_000155.4(GALT):c.252+8T>C
|
|
|
NM_000155.4(GALT):c.252G>A (p.Glu84=)
|
|
|
NM_000155.4(GALT):c.253-11C>T
|
|
|
NM_000155.4(GALT):c.253-16C>T
|
|
|
NM_000155.4(GALT):c.253-18G>A
|
rs567181626
|
|
NM_000155.4(GALT):c.253-19del
|
|
|
NM_000155.4(GALT):c.253-20T>C
|
|
|
NM_000155.4(GALT):c.253-5G>T
|
rs762136953
|
|
NM_000155.4(GALT):c.253-6C>A
|
rs753450355
|
|
NM_000155.4(GALT):c.253-6C>G
|
|
|
NM_000155.4(GALT):c.253-8G>T
|
|
|
NM_000155.4(GALT):c.25C>T (p.Gln9Ter)
|
rs111033848
|
|
NM_000155.4(GALT):c.260C>G (p.Pro87Arg)
|
|
|
NM_000155.4(GALT):c.262dup (p.Gln88fs)
|
|
|
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)
|
|
|
NM_000155.4(GALT):c.273C>T (p.Ser91=)
|
rs2132342404
|
|
NM_000155.4(GALT):c.278T>C (p.Phe93Ser)
|
rs1821135918
|
|
NM_000155.4(GALT):c.279C>T (p.Phe93=)
|
rs1307903821
|
|
NM_000155.4(GALT):c.27G>C (p.Gln9His)
|
rs111033637
|
|
NM_000155.4(GALT):c.289A>G (p.Asn97Asp)
|
rs1564100957
|
|
NM_000155.4(GALT):c.289_291del (p.Asn97del)
|
rs398123179
|
|
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)
|
rs111033669
|
|
NM_000155.4(GALT):c.290A>T (p.Asn97Ile)
|
rs111033669
|
|
NM_000155.4(GALT):c.291C>T (p.Asn97=)
|
rs398123180
|
|
NM_000155.4(GALT):c.292G>C (p.Asp98His)
|
rs111033670
|
|
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.29_48delinsGACC (p.Gln10fs)
|
rs1587236467
|
|
NM_000155.4(GALT):c.2T>C (p.Met1Thr)
|
rs771702963
|
|
NM_000155.4(GALT):c.302C>G (p.Ala101Gly)
|
|
|
NM_000155.4(GALT):c.303T>C (p.Ala101=)
|
rs2132342478
|
|
NM_000155.4(GALT):c.304C>T (p.Leu102=)
|
rs2132342481
|
|
NM_000155.4(GALT):c.30A>G (p.Gln10=)
|
|
|
NM_000155.4(GALT):c.318C>T (p.Ala106=)
|
|
|
NM_000155.4(GALT):c.31C>G (p.Arg11Gly)
|
|
|
NM_000155.4(GALT):c.324T>C (p.Ser108=)
|
rs1262655852
|
|
NM_000155.4(GALT):c.327del (p.Gly110fs)
|
rs2132342518
|
|
NM_000155.4(GALT):c.328+13C>T
|
|
|
NM_000155.4(GALT):c.328+15A>G
|
|
|
NM_000155.4(GALT):c.328+2T>C
|
rs111033849
|
|
NM_000155.4(GALT):c.328+2T>G
|
|
|
NM_000155.4(GALT):c.328+33G>A
|
rs767197888
|
|
NM_000155.4(GALT):c.328+8G>A
|
rs2132342533
|
|
NM_000155.4(GALT):c.329-12C>T
|
|
|
NM_000155.4(GALT):c.329-14C>T
|
|
|
NM_000155.4(GALT):c.329-20G>C
|
|
|
NM_000155.4(GALT):c.329-5C>T
|
|
|
NM_000155.4(GALT):c.329-6C>T
|
|
|
NM_000155.4(GALT):c.329-9T>C
|
|
|
NM_000155.4(GALT):c.32G>A (p.Arg11His)
|
rs757632977
|
|
NM_000155.4(GALT):c.336T>G (p.Ser112Arg)
|
rs367543254
|
|
NM_000155.4(GALT):c.346C>A (p.Leu116Ile)
|
rs1554709252
|
|
NM_000155.4(GALT):c.346C>G (p.Leu116Val)
|
rs1554709252
|
|
NM_000155.4(GALT):c.357A>C (p.Ala119=)
|
rs2132342704
|
|
NM_000155.4(GALT):c.359del (p.Lys120fs)
|
rs1821141007
|
|
NM_000155.4(GALT):c.363T>C (p.Ser121=)
|
rs2132342720
|
|
NM_000155.4(GALT):c.363T>G (p.Ser121=)
|
|
|
NM_000155.4(GALT):c.367C>T (p.Arg123Ter)
|
rs111033674
|
|
NM_000155.4(GALT):c.368G>A (p.Arg123Gln)
|
rs111033675
|
|
NM_000155.4(GALT):c.36G>A (p.Gln12=)
|
|
|
NM_000155.4(GALT):c.371G>T (p.Gly124Val)
|
|
|
NM_000155.4(GALT):c.377+12T>C
|
|
|
NM_000155.4(GALT):c.377+17C>A
|
|
|
NM_000155.4(GALT):c.377+19T>C
|
|
|
NM_000155.4(GALT):c.377+1G>A
|
|
|
NM_000155.4(GALT):c.377+1G>T
|
rs111033681
|
|
NM_000155.4(GALT):c.377+20C>G
|
|
|
NM_000155.4(GALT):c.377+26A>G
|
|
|
NM_000155.4(GALT):c.377+53_1059+87del
|
|
|
NM_000155.4(GALT):c.377+7A>G
|
rs376026879
|
|
NM_000155.4(GALT):c.377+8T>C
|
rs1587238189
|
|
NM_000155.4(GALT):c.378-10C>T
|
|
|
NM_000155.4(GALT):c.378-13C>T
|
|
|
NM_000155.4(GALT):c.378-14C>A
|
|
|
NM_000155.4(GALT):c.378-15C>T
|
|
|
NM_000155.4(GALT):c.378-2A>G
|
rs1554709280
|
|
NM_000155.4(GALT):c.378-2A>T
|
rs1554709280
|
|
NM_000155.4(GALT):c.378-4C>T
|
rs2132343006
|
|
NM_000155.4(GALT):c.37C>T (p.Gln13Ter)
|
|
|
NM_000155.4(GALT):c.382G>A (p.Val128Ile)
|
|
|
NM_000155.4(GALT):c.384_388del (p.Met129fs)
|
rs2132343017
|
|
NM_000155.4(GALT):c.385A>T (p.Met129Leu)
|
rs193922248
|
|
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr)
|
rs367543255
|
|
NM_000155.4(GALT):c.394C>T (p.His132Tyr)
|
rs111033688
|
|
NM_000155.4(GALT):c.396C>T (p.His132=)
|
rs367543256
|
|
NM_000155.4(GALT):c.400del (p.Trp134fs)
|
rs111033689
|
|
NM_000155.4(GALT):c.403T>G (p.Ser135Ala)
|
rs2132343082
|
|
NM_000155.4(GALT):c.404C>G (p.Ser135Trp)
|
rs111033690
|
|
NM_000155.4(GALT):c.405G>A (p.Ser135=)
|
rs141232328
|
|
NM_000155.4(GALT):c.405G>C (p.Ser135=)
|
|
|
NM_000155.4(GALT):c.409G>A (p.Val137Ile)
|
rs1821146618
|
|
NM_000155.4(GALT):c.40G>A (p.Ala14Thr)
|
|
|
NM_000155.4(GALT):c.40_41insT (p.Ala14fs)
|
rs1821111380
|
|
NM_000155.4(GALT):c.412del (p.Thr138fs)
|
|
|
NM_000155.4(GALT):c.413C>G (p.Thr138Arg)
|
rs111033686
|
|
NM_000155.4(GALT):c.414G>A (p.Thr138=)
|
rs116479817
|
|
NM_000155.4(GALT):c.414G>T (p.Thr138=)
|
rs116479817
|
|
NM_000155.4(GALT):c.417G>A (p.Leu139=)
|
|
|
NM_000155.4(GALT):c.419C>T (p.Pro140Leu)
|
rs1821147228
|
|
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs)
|
rs111033634
|
|
NM_000155.4(GALT):c.423C>T (p.Leu141=)
|
|
|
NM_000155.4(GALT):c.424A>C (p.Met142Leu)
|
|
|
NM_000155.4(GALT):c.424A>G (p.Met142Val)
|
rs111033692
|
|
NM_000155.4(GALT):c.425T>C (p.Met142Thr)
|
rs111033695
|
|
NM_000155.4(GALT):c.428C>G (p.Ser143Trp)
|
rs111033697
|
|
NM_000155.4(GALT):c.428C>T (p.Ser143Leu)
|
rs111033697
|
|
NM_000155.4(GALT):c.430G>C (p.Val144Leu)
|
rs2132343177
|
|
NM_000155.4(GALT):c.439A>G (p.Ile147Val)
|
|
|
NM_000155.4(GALT):c.450T>A (p.Val150=)
|
rs886063884
|
|
NM_000155.4(GALT):c.450del (p.Val151fs)
|
|
|
NM_000155.4(GALT):c.452T>C (p.Val151Ala)
|
rs111033701
|
|
NM_000155.4(GALT):c.457G>A (p.Ala153Thr)
|
|
|
NM_000155.4(GALT):c.45A>G (p.Ser15=)
|
rs2132340841
|
|
NM_000155.4(GALT):c.45A>T (p.Ser15=)
|
|
|
NM_000155.4(GALT):c.460T>C (p.Trp154Arg)
|
rs111033702
|
|
NM_000155.4(GALT):c.462G>A (p.Trp154Ter)
|
rs111033704
|
|
NM_000155.4(GALT):c.465_474dup (p.Glu159fs)
|
|
|
NM_000155.4(GALT):c.467C>A (p.Ser156Ter)
|
rs766896883
|
|
NM_000155.4(GALT):c.468_469delinsT (p.Val157fs)
|
|
|
NM_000155.4(GALT):c.480G>A (p.Glu160=)
|
rs1587238612
|
|
NM_000155.4(GALT):c.483G>T (p.Leu161=)
|
rs2132343289
|
|
NM_000155.4(GALT):c.48G>A (p.Glu16=)
|
|
|
NM_000155.4(GALT):c.499T>C (p.Trp167Arg)
|
rs111033708
|
|
NM_000155.4(GALT):c.499T>G (p.Trp167Gly)
|
rs111033708
|
|
NM_000155.4(GALT):c.501G>A (p.Trp167Ter)
|
|
|
NM_000155.4(GALT):c.501G>C (p.Trp167Cys)
|
|
|
NM_000155.4(GALT):c.502G>A (p.Val168Met)
|
rs367543258
|
|
NM_000155.4(GALT):c.502G>T (p.Val168Leu)
|
rs367543258
|
|
NM_000155.4(GALT):c.502_504del (p.Val168del)
|
rs1219976432
|
|
NM_000155.4(GALT):c.504G>A (p.Val168=)
|
rs913565225
|
|
NM_000155.4(GALT):c.505C>A (p.Gln169Lys)
|
rs111033709
|
|
NM_000155.4(GALT):c.507+10G>T
|
|
|
NM_000155.4(GALT):c.507+13G>A
|
|
|
NM_000155.4(GALT):c.507+13G>T
|
|
|
NM_000155.4(GALT):c.507+5G>A
|
rs886043775
|
|
NM_000155.4(GALT):c.507+9G>A
|
rs1438905582
|
|
NM_000155.4(GALT):c.507G>C (p.Gln169His)
|
|
|
NM_000155.4(GALT):c.508-11C>T
|
|
|
NM_000155.4(GALT):c.508-15A>G
|
|
|
NM_000155.4(GALT):c.508-17G>A
|
rs12000481
|
|
NM_000155.4(GALT):c.508-17G>C
|
|
|
NM_000155.4(GALT):c.508-17G>T
|
|
|
NM_000155.4(GALT):c.508-18C>G
|
|
|
NM_000155.4(GALT):c.508-18C>T
|
|
|
NM_000155.4(GALT):c.508-19C>T
|
|
|
NM_000155.4(GALT):c.508-1G>C
|
rs398123181
|
|
NM_000155.4(GALT):c.508-29del
|
rs111033711
|
|
NM_000155.4(GALT):c.508-2_509del
|
rs2132343638
|
|
NM_000155.4(GALT):c.508-4A>G
|
|
|
NM_000155.4(GALT):c.508-9A>G
|
rs1821155158
|
|
NM_000155.4(GALT):c.513del (p.Phe171fs)
|
rs886044409
|
|
NM_000155.4(GALT):c.513dup (p.Glu172Ter)
|
rs886044409
|
|
NM_000155.4(GALT):c.514G>T (p.Glu172Ter)
|
rs780156428
|
|
NM_000155.4(GALT):c.51G>C (p.Ala17=)
|
|
|
NM_000155.4(GALT):c.522A>G (p.Lys174=)
|
|
|
NM_000155.4(GALT):c.524G>A (p.Gly175Asp)
|
rs111033718
|
|
NM_000155.4(GALT):c.527C>T (p.Ala176Val)
|
rs1554709329
|
|
NM_000155.4(GALT):c.529A>G (p.Met177Val)
|
|
|
NM_000155.4(GALT):c.530T>C (p.Met177Thr)
|
rs2132343692
|
|
NM_000155.4(GALT):c.533T>G (p.Met178Arg)
|
|
|
NM_000155.4(GALT):c.542C>A (p.Ser181Tyr)
|
rs367543259
|
|
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)
|
rs111033721
|
|
NM_000155.4(GALT):c.549C>A (p.Pro183=)
|
|
|
NM_000155.4(GALT):c.550C>G (p.His184Asp)
|
rs111033716
|
|
NM_000155.4(GALT):c.550C>T (p.His184Tyr)
|
rs111033716
|
|
NM_000155.4(GALT):c.550del (p.His184fs)
|
|
|
NM_000155.4(GALT):c.550dup (p.His184fs)
|
|
|
NM_000155.4(GALT):c.552C>A (p.His184Gln)
|
rs111033717
|
|
NM_000155.4(GALT):c.553C>T (p.Pro185Ser)
|
rs111033826
|
|
NM_000155.4(GALT):c.554C>T (p.Pro185Leu)
|
rs111033722
|
|
NM_000155.4(GALT):c.556C>A (p.His186Asn)
|
rs111033725
|
|
NM_000155.4(GALT):c.557A>G (p.His186Arg)
|
|
|
NM_000155.4(GALT):c.558C>A (p.His186Gln)
|
rs886042097
|
|
NM_000155.4(GALT):c.558C>G (p.His186Gln)
|
rs886042097
|
|
NM_000155.4(GALT):c.558C>T (p.His186=)
|
|
|
NM_000155.4(GALT):c.560G>A (p.Cys187Tyr)
|
|
|
NM_000155.4(GALT):c.561C>A (p.Cys187Ter)
|
rs1821157539
|
|
NM_000155.4(GALT):c.561_564+9del
|
rs1554709342
|
|
NM_000155.4(GALT):c.562C>T (p.Gln188Ter)
|
rs398123182
|
|
NM_000155.4(GALT):c.564+14G>A
|
|
|
NM_000155.4(GALT):c.564+16G>A
|
|
|
NM_000155.4(GALT):c.564+1G>A
|
rs111033723
|
|
NM_000155.4(GALT):c.564+1G>T
|
rs111033723
|
|
NM_000155.4(GALT):c.564+7G>T
|
rs760189807
|
|
NM_000155.4(GALT):c.564+8T>C
|
rs2132343810
|
|
NM_000155.4(GALT):c.565-10C>T
|
rs778835377
|
|
NM_000155.4(GALT):c.565-13T>A
|
rs2132344016
|
|
NM_000155.4(GALT):c.565-17C>T
|
|
|
NM_000155.4(GALT):c.565-20C>T
|
|
|
NM_000155.4(GALT):c.565-2A>G
|
rs111033731
|
|
NM_000155.4(GALT):c.565-4A>G
|
|
|
NM_000155.4(GALT):c.565-4A>T
|
|
|
NM_000155.4(GALT):c.565-5G>A
|
|
|
NM_000155.4(GALT):c.565-7T>C
|
rs771840709
|
|
NM_000155.4(GALT):c.565-7T>G
|
rs771840709
|
|
NM_000155.4(GALT):c.565-8C>A
|
|
|
NM_000155.4(GALT):c.565-8C>T
|
rs569393869
|
|
NM_000155.4(GALT):c.565-9C>T
|
|
|
NM_000155.4(GALT):c.565_578del
|
|
|
NM_000155.4(GALT):c.572C>A (p.Ala191Asp)
|
rs794727838
|
|
NM_000155.4(GALT):c.572C>T (p.Ala191Val)
|
rs794727838
|
|
NM_000155.4(GALT):c.576_589del (p.Ser192fs)
|
rs1198705438
|
|
NM_000155.4(GALT):c.579T>C (p.Ser193=)
|
rs1821162871
|
|
NM_000155.4(GALT):c.57C>T (p.Ala19=)
|
rs1821111990
|
|
NM_000155.4(GALT):c.580T>C (p.Phe194Leu)
|
rs111033726
|
|
NM_000155.4(GALT):c.584T>G (p.Leu195Arg)
|
rs111033728
|
|
NM_000155.4(GALT):c.585G>T (p.Leu195=)
|
rs2132344100
|
|
NM_000155.4(GALT):c.586C>G (p.Pro196Ala)
|
|
|
NM_000155.4(GALT):c.587C>T (p.Pro196Leu)
|
rs886042066
|
|
NM_000155.4(GALT):c.588A>G (p.Pro196=)
|
|
|
NM_000155.4(GALT):c.594T>C (p.Ile198=)
|
|
|
NM_000155.4(GALT):c.597C>G (p.Ala199=)
|
|
|
NM_000155.4(GALT):c.598C>T (p.Gln200Ter)
|
rs1564101619
|
|
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738
|
|
NM_000155.4(GALT):c.604G>A (p.Glu202Lys)
|
rs2132344159
|
|
NM_000155.4(GALT):c.608A>G (p.Glu203Gly)
|
rs2132344172
|
|
NM_000155.4(GALT):c.611G>C (p.Arg204Pro)
|
rs111033740
|
|
NM_000155.4(GALT):c.615_616del (p.Gln206fs)
|
|
|
NM_000155.4(GALT):c.616C>T (p.Gln206Ter)
|
rs1554709366
|
|
NM_000155.4(GALT):c.617A>G (p.Gln206Arg)
|
rs1587239309
|
|
NM_000155.4(GALT):c.619C>T (p.Gln207Ter)
|
rs111033743
|
|
NM_000155.4(GALT):c.621G>A (p.Gln207=)
|
rs1821164791
|
|
NM_000155.4(GALT):c.625T>G (p.Tyr209Asp)
|
rs2132344222
|
|
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser)
|
rs111033744
|
|
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter)
|
rs1057516720
|
|
NM_000155.4(GALT):c.627T>C (p.Tyr209=)
|
|
|
NM_000155.4(GALT):c.630G>A (p.Lys210=)
|
rs367543260
|
|
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)
|
rs111033746
|
|
NM_000155.4(GALT):c.636G>A (p.Gln212=)
|
|
|
NM_000155.4(GALT):c.642A>C (p.Gly214=)
|
|
|
NM_000155.4(GALT):c.642A>G (p.Gly214=)
|
rs1821165725
|
|
NM_000155.4(GALT):c.645G>A (p.Glu215=)
|
rs756379314
|
|
NM_000155.4(GALT):c.645_646insGAGT (p.Pro216fs)
|
|
|
NM_000155.4(GALT):c.649_653dup (p.Met219fs)
|
|
|
NM_000155.4(GALT):c.650T>C (p.Leu217Pro)
|
rs111033741
|
|
NM_000155.4(GALT):c.652C>G (p.Leu218Val)
|
rs2070075
|
|
NM_000155.4(GALT):c.652_653del (p.Leu218fs)
|
|
|
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)
|
rs111033742
|
|
NM_000155.4(GALT):c.665G>A (p.Ser222Asn)
|
|
|
NM_000155.4(GALT):c.666C>T (p.Ser222=)
|
|
|
NM_000155.4(GALT):c.667C>A (p.Arg223Ser)
|
rs111033750
|
|
NM_000155.4(GALT):c.668G>A (p.Arg223His)
|
|
|
NM_000155.4(GALT):c.669C>T (p.Arg223=)
|
rs2132344347
|
|
NM_000155.4(GALT):c.669_670del (p.Gln224fs)
|
|
|
NM_000155.4(GALT):c.670C>T (p.Gln224Ter)
|
rs1821166869
|
|
NM_000155.4(GALT):c.670del (p.Gln224fs)
|
rs1057516883
|
|
NM_000155.4(GALT):c.675G>A (p.Glu225=)
|
|
|
NM_000155.4(GALT):c.676C>G (p.Leu226Val)
|
rs111033751
|
|
NM_000155.4(GALT):c.678A>C (p.Leu226=)
|
|
|
NM_000155.4(GALT):c.680_681del (p.Leu227fs)
|
|
|
NM_000155.4(GALT):c.681C>A (p.Leu227=)
|
|
|
NM_000155.4(GALT):c.682A>C (p.Arg228=)
|
rs2132344383
|
|
NM_000155.4(GALT):c.684del (p.Lys229fs)
|
rs2132344399
|
|
NM_000155.4(GALT):c.687+16G>A
|
|
|
NM_000155.4(GALT):c.687+19C>G
|
|
|
NM_000155.4(GALT):c.687+1G>T
|
rs193922250
|
|
NM_000155.4(GALT):c.687+8A>G
|
rs2132344427
|
|
NM_000155.4(GALT):c.687G>A (p.Lys229=)
|
rs111033753
|
|
NM_000155.4(GALT):c.688-10G>A
|
rs1030389064
|
|
NM_000155.4(GALT):c.688-12_688-11del
|
rs777929860
|
|
NM_000155.4(GALT):c.688-17C>T
|
|
|
NM_000155.4(GALT):c.688-1G>C
|
rs1821175162
|
|
NM_000155.4(GALT):c.688-20T>C
|
|
|
NM_000155.4(GALT):c.688-4del
|
rs1462676944
|
|
NM_000155.4(GALT):c.688-7T>G
|
|
|
NM_000155.4(GALT):c.691C>G (p.Arg231Gly)
|
rs111033749
|
|
NM_000155.4(GALT):c.696G>A (p.Leu232=)
|
|
|
NM_000155.4(GALT):c.697G>T (p.Val233Phe)
|
|
|
NM_000155.4(GALT):c.6G>A (p.Ser2=)
|
rs1410764100
|
|
NM_000155.4(GALT):c.700C>T (p.Leu234=)
|
rs751351126
|
|
NM_000155.4(GALT):c.708_709del (p.Ser236fs)
|
rs2132344913
|
|
NM_000155.4(GALT):c.717G>T (p.Trp239Cys)
|
|
|
NM_000155.4(GALT):c.719_728del (p.Leu240fs)
|
rs111033838
|
|
NM_000155.4(GALT):c.723A>G (p.Val241=)
|
|
|
NM_000155.4(GALT):c.724C>T (p.Leu242=)
|
|
|
NM_000155.4(GALT):c.726G>A (p.Leu242=)
|
rs2132344939
|
|
NM_000155.4(GALT):c.727G>A (p.Val243Ile)
|
rs1403255940
|
|
NM_000155.4(GALT):c.737G>A (p.Trp246Ter)
|
rs1821176206
|
|
NM_000155.4(GALT):c.745T>C (p.Trp249Arg)
|
rs111033757
|
|
NM_000155.4(GALT):c.747G>A (p.Trp249Ter)
|
rs111033758
|
|
NM_000155.4(GALT):c.748C>T (p.Pro250Ser)
|
|
|
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys)
|
rs111033755
|
|
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)
|
rs886043390
|
|
NM_000155.4(GALT):c.754C>A (p.Gln252Lys)
|
rs1564101859
|
|
NM_000155.4(GALT):c.754del (p.Gln252fs)
|
|
|
NM_000155.4(GALT):c.759A>G (p.Thr253=)
|
rs1554709425
|
|
NM_000155.4(GALT):c.761dup (p.Leu255fs)
|
rs747036550
|
|
NM_000155.4(GALT):c.762G>C (p.Leu254=)
|
rs748639317
|
|
NM_000155.4(GALT):c.768G>T (p.Leu256=)
|
|
|
NM_000155.4(GALT):c.772del (p.Arg258fs)
|
rs2132345023
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000155.4(GALT):c.793C>G (p.Pro265Ala)
|
rs111033764
|
|
NM_000155.4(GALT):c.795T>C (p.Pro265=)
|
|
|
NM_000155.4(GALT):c.796G>T (p.Glu266Ter)
|
rs1821178833
|
|
NM_000155.4(GALT):c.797A>G (p.Glu266Gly)
|
rs1821178890
|
|
NM_000155.4(GALT):c.804C>T (p.Thr268=)
|
|
|
NM_000155.4(GALT):c.812A>G (p.Glu271Gly)
|
rs111033765
|
|
NM_000155.4(GALT):c.813G>C (p.Glu271Asp)
|
|
|
NM_000155.4(GALT):c.814del (p.Arg272fs)
|
rs2132345163
|
|
NM_000155.4(GALT):c.815G>A (p.Arg272His)
|
rs111033831
|
|
NM_000155.4(GALT):c.815G>T (p.Arg272Leu)
|
|
|
NM_000155.4(GALT):c.82+10C>T
|
rs1480449606
|
|
NM_000155.4(GALT):c.82+11C>A
|
|
|
NM_000155.4(GALT):c.82+14G>A
|
|
|
NM_000155.4(GALT):c.82+17A>C
|
|
|
NM_000155.4(GALT):c.82+17A>G
|
|
|
NM_000155.4(GALT):c.82+18G>A
|
|
|
NM_000155.4(GALT):c.82+19G>A
|
|
|
NM_000155.4(GALT):c.82+20G>A
|
|
|
NM_000155.4(GALT):c.82+20_82+60del
|
rs771008280
|
|
NM_000155.4(GALT):c.82+2T>G
|
|
|
NM_000155.4(GALT):c.82+2del
|
rs794726876
|
|
NM_000155.4(GALT):c.82+8C>A
|
rs368244179
|
|
NM_000155.4(GALT):c.820+13A>C
|
rs111033768
|
|
NM_000155.4(GALT):c.820+13A>G
|
rs111033768
|
|
NM_000155.4(GALT):c.820+16A>C
|
rs1414791300
|
|
NM_000155.4(GALT):c.820+19A>G
|
|
|
NM_000155.4(GALT):c.820+2T>C
|
|
|
NM_000155.4(GALT):c.821-13G>C
|
|
|
NM_000155.4(GALT):c.821-1del
|
rs2132345349
|
|
NM_000155.4(GALT):c.821-20G>T
|
|
|
NM_000155.4(GALT):c.821-2A>G
|
rs111033767
|
|
NM_000155.4(GALT):c.821-6T>C
|
rs2132345339
|
|
NM_000155.4(GALT):c.823C>G (p.Leu275Val)
|
rs796051967
|
|
NM_000155.4(GALT):c.823C>T (p.Leu275=)
|
|
|
NM_000155.4(GALT):c.827C>G (p.Ala276Gly)
|
rs1564102003
|
|
NM_000155.4(GALT):c.828C>A (p.Ala276=)
|
rs1192715180
|
|
NM_000155.4(GALT):c.82G>A (p.Asp28Asn)
|
rs111033636
|
|
NM_000155.4(GALT):c.83-10del
|
|
|
NM_000155.4(GALT):c.83-14C>A
|
|
|
NM_000155.4(GALT):c.83-14C>T
|
|
|
NM_000155.4(GALT):c.83-17T>C
|
rs2132341385
|
|
NM_000155.4(GALT):c.83-19C>G
|
|
|
NM_000155.4(GALT):c.83-2A>G
|
rs1057517415
|
|
NM_000155.4(GALT):c.83-5C>T
|
|
|
NM_000155.4(GALT):c.83-7C>T
|
|
|
NM_000155.4(GALT):c.83-8G>A
|
|
|
NM_000155.4(GALT):c.831C>T (p.Ser277=)
|
rs755776140
|
|
NM_000155.4(GALT):c.835A>G (p.Met279Val)
|
|
|
NM_000155.4(GALT):c.836T>G (p.Met279Arg)
|
rs111033779
|
|
NM_000155.4(GALT):c.840G>A (p.Lys280=)
|
rs1408275054
|
|
NM_000155.4(GALT):c.844C>G (p.Leu282Val)
|
rs111033772
|
|
NM_000155.4(GALT):c.849_850del (p.Leu283fs)
|
|
|
NM_000155.4(GALT):c.853A>T (p.Lys285Ter)
|
rs1821183505
|
|
NM_000155.4(GALT):c.854A>C (p.Lys285Thr)
|
|
|
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del)
|
rs1587240095
|
|
NM_000155.4(GALT):c.863A>G (p.Asn288Ser)
|
rs1821184031
|
|
NM_000155.4(GALT):c.86A>G (p.His29Arg)
|
rs2132341442
|
|
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr)
|
rs111033781
|
|
NM_000155.4(GALT):c.883C>T (p.Pro295Ser)
|
|
|
NM_000155.4(GALT):c.885_886insATGGCGTCCTTTCCC (p.Pro295_Tyr296insMetAlaSerPhePro)
|
rs886043498
|
|
NM_000155.4(GALT):c.887A>G (p.Tyr296Cys)
|
rs775789069
|
|
NM_000155.4(GALT):c.888C>A (p.Tyr296Ter)
|
rs1554709447
|
|
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter)
|
rs1554709447
|
|
NM_000155.4(GALT):c.891C>T (p.Ser297=)
|
rs1250931166
|
|
NM_000155.4(GALT):c.892A>G (p.Met298Val)
|
rs1821187430
|
|
NM_000155.4(GALT):c.894G>A (p.Met298Ile)
|
rs1821187550
|
|
NM_000155.4(GALT):c.895G>A (p.Gly299Ser)
|
rs1587240180
|
|
NM_000155.4(GALT):c.896G>A (p.Gly299Asp)
|
|
|
NM_000155.4(GALT):c.899G>A (p.Trp300Ter)
|
rs1064794295
|
|
NM_000155.4(GALT):c.900G>A (p.Trp300Ter)
|
rs1034185619
|
|
NM_000155.4(GALT):c.900G>T (p.Trp300Cys)
|
|
|
NM_000155.4(GALT):c.904+11del
|
rs1337523880
|
|
NM_000155.4(GALT):c.904+15G>A
|
|
|
NM_000155.4(GALT):c.904+17A>G
|
|
|
NM_000155.4(GALT):c.904+1G>A
|
rs367543271
|
|
NM_000155.4(GALT):c.904+1G>T
|
rs367543271
|
|
NM_000155.4(GALT):c.904+7C>A
|
rs1564102104
|
|
NM_000155.4(GALT):c.904+9T>C
|
rs2132345603
|
|
NM_000155.4(GALT):c.905-11_905-9del
|
|
|
NM_000155.4(GALT):c.905-13_905-12del
|
|
|
NM_000155.4(GALT):c.905-16C>T
|
|
|
NM_000155.4(GALT):c.905-19TC[2]
|
|
|
NM_000155.4(GALT):c.905-20G>A
|
|
|
NM_000155.4(GALT):c.905-2A>G
|
rs398123187
|
|
NM_000155.4(GALT):c.905-5G>C
|
|
|
NM_000155.4(GALT):c.910C>G (p.Pro304Ala)
|
|
|
NM_000155.4(GALT):c.910C>T (p.Pro304Ser)
|
rs2132346162
|
|
NM_000155.4(GALT):c.912_913insGA (p.Thr305fs)
|
|
|
NM_000155.4(GALT):c.912dup (p.Thr305fs)
|
rs746285782
|
|
NM_000155.4(GALT):c.918A>G (p.Gly306=)
|
|
|
NM_000155.4(GALT):c.91C>A (p.His31Asn)
|
rs111033643
|
|
NM_000155.4(GALT):c.931G>T (p.Ala311Ser)
|
|
|
NM_000155.4(GALT):c.933C>T (p.Ala311=)
|
rs2132346233
|
|
NM_000155.4(GALT):c.936C>G (p.Asn312Lys)
|
rs771975129
|
|
NM_000155.4(GALT):c.942C>T (p.Asn314=)
|
rs913223040
|
|
NM_000155.4(GALT):c.948G>A (p.Trp316Ter)
|
rs111033791
|
|
NM_000155.4(GALT):c.949C>T (p.Gln317Ter)
|
|
|
NM_000155.4(GALT):c.950A>C (p.Gln317Pro)
|
|
|
NM_000155.4(GALT):c.951G>A (p.Gln317=)
|
rs111033787
|
|
NM_000155.4(GALT):c.957C>A (p.His319Gln)
|
rs111033792
|
|
NM_000155.4(GALT):c.957C>G (p.His319Gln)
|
rs111033792
|
|
NM_000155.4(GALT):c.970C>T (p.Pro324Ser)
|
rs111033798
|
|
NM_000155.4(GALT):c.971C>T (p.Pro324Leu)
|
|
|
NM_000155.4(GALT):c.976C>T (p.Leu326Phe)
|
rs1821199784
|
|
NM_000155.4(GALT):c.979_986del (p.Leu327fs)
|
rs1554709502
|
|
NM_000155.4(GALT):c.980T>C (p.Leu327Pro)
|
rs111033832
|
|
NM_000155.4(GALT):c.981G>C (p.Leu327=)
|
|
|
NM_000155.4(GALT):c.987T>C (p.Ser329=)
|
|
|
NM_000155.4(GALT):c.98G>A (p.Arg33His)
|
rs111033829
|
|
NM_000155.4(GALT):c.993T>C (p.Thr331=)
|
rs1821200887
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
NM_000155.4(GALT):c.[413C>T;469G>A]
|
|
|