ClinVar Miner

List of variants studied for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 681
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HGVS dbSNP gnomAD frequency
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.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+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]

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