NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
0.00017
|
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)
|
rs111033728
|
0.00006
|
NM_000155.4(GALT):c.253-2A>G
|
rs111033661
|
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.512T>C (p.Phe171Ser)
|
rs111033715
|
0.00004
|
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)
|
rs111033814
|
0.00003
|
NM_000155.4(GALT):c.200G>A (p.Arg67His)
|
rs758430398
|
0.00003
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
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.626A>G (p.Tyr209Cys)
|
rs111033744
|
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.1138T>C (p.Ter380Arg)
|
rs111033824
|
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.307C>T (p.Gln103Ter)
|
rs1225091358
|
0.00001
|
NM_000155.4(GALT):c.329-2A>C
|
rs111033667
|
0.00001
|
NM_000155.4(GALT):c.367C>G (p.Arg123Gly)
|
rs111033674
|
0.00001
|
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)
|
rs111033682
|
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.556C>T (p.His186Tyr)
|
rs111033725
|
0.00001
|
NM_000155.4(GALT):c.575G>A (p.Ser192Asn)
|
rs111033734
|
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.691C>T (p.Arg231Cys)
|
rs111033749
|
0.00001
|
NM_000155.4(GALT):c.692G>A (p.Arg231His)
|
rs111033754
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)
|
rs786204763
|
0.00001
|
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)
|
rs111033766
|
0.00001
|
NM_000155.4(GALT):c.821-7A>G
|
rs767337193
|
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.982C>T (p.Arg328Cys)
|
rs144993986
|
0.00001
|
NM_000155.4(GALT):c.998G>A (p.Arg333Gln)
|
rs111033808
|
0.00001
|
NC_000009.11:g.(?_34645662)_(34651235_?)del
|
|
|
NC_000009.11:g.(?_34646573)_(34649581_?)del
|
|
|
NC_000009.11:g.(?_34646573)_(34650446_?)del
|
|
|
NC_000009.11:g.(?_34646579)_(34655067_?)del
|
|
|
NC_000009.11:g.(?_34648999)_(34650430_?)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
|
|
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
|
|
|
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.100T>A (p.Tyr34Asn)
|
rs111033836
|
|
NM_000155.4(GALT):c.1030C>T (p.Gln344Ter)
|
rs111033814
|
|
NM_000155.4(GALT):c.1048del (p.Thr350fs)
|
rs775762045
|
|
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.1057C>T (p.Gln353Ter)
|
rs111033818
|
|
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.152G>A (p.Arg51Gln)
|
rs111033648
|
|
NM_000155.4(GALT):c.152G>T (p.Arg51Leu)
|
rs111033648
|
|
NM_000155.4(GALT):c.18del (p.Asp7fs)
|
rs111033638
|
|
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.213dup (p.Asn72fs)
|
|
|
NM_000155.4(GALT):c.252+2T>G
|
|
|
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.289_291del (p.Asn97del)
|
rs398123179
|
|
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)
|
rs111033669
|
|
NM_000155.4(GALT):c.292G>C (p.Asp98His)
|
rs111033670
|
|
NM_000155.4(GALT):c.2T>C (p.Met1Thr)
|
rs771702963
|
|
NM_000155.4(GALT):c.327del (p.Gly110fs)
|
rs2132342518
|
|
NM_000155.4(GALT):c.359del (p.Lys120fs)
|
rs1821141007
|
|
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.377+1G>A
|
|
|
NM_000155.4(GALT):c.377+1G>T
|
rs111033681
|
|
NM_000155.4(GALT):c.382G>A (p.Val128Ile)
|
|
|
NM_000155.4(GALT):c.384_388del (p.Met129fs)
|
rs2132343017
|
|
NM_000155.4(GALT):c.400del (p.Trp134fs)
|
rs111033689
|
|
NM_000155.4(GALT):c.404C>G (p.Ser135Trp)
|
rs111033690
|
|
NM_000155.4(GALT):c.40_41insT (p.Ala14fs)
|
rs1821111380
|
|
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.439A>G (p.Ile147Val)
|
|
|
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.501G>A (p.Trp167Ter)
|
|
|
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.508-2_509del
|
rs2132343638
|
|
NM_000155.4(GALT):c.513del (p.Phe171fs)
|
rs886044409
|
|
NM_000155.4(GALT):c.530T>C (p.Met177Thr)
|
rs2132343692
|
|
NM_000155.4(GALT):c.550del (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.558C>G (p.His186Gln)
|
rs886042097
|
|
NM_000155.4(GALT):c.564+1G>A
|
rs111033723
|
|
NM_000155.4(GALT):c.576_589del (p.Ser192fs)
|
rs1198705438
|
|
NM_000155.4(GALT):c.598C>T (p.Gln200Ter)
|
rs1564101619
|
|
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738
|
|
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.626A>C (p.Tyr209Ser)
|
rs111033744
|
|
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter)
|
rs1057516720
|
|
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)
|
rs111033746
|
|
NM_000155.4(GALT):c.649_653dup (p.Met219fs)
|
|
|
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)
|
rs111033742
|
|
NM_000155.4(GALT):c.665G>A (p.Ser222Asn)
|
|
|
NM_000155.4(GALT):c.667C>A (p.Arg223Ser)
|
rs111033750
|
|
NM_000155.4(GALT):c.684del (p.Lys229fs)
|
rs2132344399
|
|
NM_000155.4(GALT):c.717G>T (p.Trp239Cys)
|
|
|
NM_000155.4(GALT):c.719_728del (p.Leu240fs)
|
rs111033838
|
|
NM_000155.4(GALT):c.737G>A (p.Trp246Ter)
|
rs1821176206
|
|
NM_000155.4(GALT):c.747G>A (p.Trp249Ter)
|
rs111033758
|
|
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)
|
rs886043390
|
|
NM_000155.4(GALT):c.761dup (p.Leu255fs)
|
rs747036550
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000155.4(GALT):c.796G>T (p.Glu266Ter)
|
rs1821178833
|
|
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.82+2T>G
|
|
|
NM_000155.4(GALT):c.820+13A>G
|
rs111033768
|
|
NM_000155.4(GALT):c.894G>A (p.Met298Ile)
|
rs1821187550
|
|
NM_000155.4(GALT):c.899G>A (p.Trp300Ter)
|
rs1064794295
|
|
NM_000155.4(GALT):c.904+1G>A
|
rs367543271
|
|
NM_000155.4(GALT):c.904+1G>T
|
rs367543271
|
|
NM_000155.4(GALT):c.912dup (p.Thr305fs)
|
rs746285782
|
|
NM_000155.4(GALT):c.949C>T (p.Gln317Ter)
|
|
|
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.997C>T (p.Arg333Trp)
|
rs111033800
|
|