ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Research and Development, ARUP Laboratories

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 478
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HGVS dbSNP
M60091.1:c.761insT?
M60091.1:c.772C>T
M60091.1:c.775C>T?
NG_009029.1:g.(?_4752)_(?_9014)
NG_009029.1:g.[4026_7188del; 7307insGAATAGACCCCA; g.7308_9602del]
NM_000060.2(BTD):c.[1171C>T;1334G>T]
NM_000060.2(BTD):c.[1207T>G;1330G>C]
NM_000060.2(BTD):c.[133G>A;1271G>C]
NM_000060.2(BTD):c.[133G>A;865G>C]
NM_000060.2(BTD):c.[159C>A;160G>T]
NM_000060.2(BTD):c.[212T>C;236G>A]
NM_000060.2(BTD):c.[235C>T;1361A>C]
NM_000060.2(BTD):c.[235C>T;470G>A]
NM_000060.2(BTD):c.[283C>T;1330G>C]
NM_000060.2(BTD):c.[470G>A;1330G>C]
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_000060.2(BTD):c.[641A>G;1330G>C]
NM_000060.2(BTD):c.[794A>T;933T>G]
NM_000060.2(BTD):c.[98_104delGCGGCTGinsTCC;212T>C]
NM_000060.4(BTD):c.407dup (p.Val137Glyfs) rs397514439
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.1078_1083delGCACTTins20 (p.?)
NM_000155.3(GALT):c.779_790delATGTGCGGCGGC (p.His260_Arg263del) rs111033762
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.*203C>T rs75958979
NM_000155.4(GALT):c.1001A>G (p.Lys334Arg) rs111033809
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) rs111033806
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>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1034C>A (p.Ala345Asp) rs111033815
NM_000155.4(GALT):c.1047del (p.Thr350fs) rs111033816
NM_000155.4(GALT):c.1048A>G (p.Thr350Ala) rs111033817
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.4(GALT):c.1059+24G>A rs111033840
NM_000155.4(GALT):c.1059+36T>A rs111033820
NM_000155.4(GALT):c.1059+56C>T rs111033821
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.1072del (p.Arg357_Leu358insTer) rs397515629
NM_000155.4(GALT):c.107C>T (p.Pro36Leu) rs111033645
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys) rs367543273
NM_000155.4(GALT):c.1098C>A (p.Tyr366Ter) rs111033822
NM_000155.4(GALT):c.1108C>T (p.Gln370Ter) rs111033823
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg) rs111033824
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.117T>C (p.Asp39=) rs111033642
NM_000155.4(GALT):c.130G>A (p.Val44Met) rs111033647
NM_000155.4(GALT):c.130G>T (p.Val44Leu) rs111033647
NM_000155.4(GALT):c.134C>T (p.Ser45Leu) rs111033652
NM_000155.4(GALT):c.136_140del (p.Ala46fs) rs111033651
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.160C>T (p.Gln54Ter) rs111033649
NM_000155.4(GALT):c.163G>T (p.Gly55Cys) rs111033654
NM_000155.4(GALT):c.184C>A (p.Leu62Met) rs1800461
NM_000155.4(GALT):c.18del (p.Asp7fs) rs111033638
NM_000155.4(GALT):c.197C>A (p.Pro66His) rs111033656
NM_000155.4(GALT):c.197C>T (p.Pro66Leu) rs111033656
NM_000155.4(GALT):c.199C>T (p.Arg67Cys) rs111033658
NM_000155.4(GALT):c.1A>G (p.Met1Val) rs111033639
NM_000155.4(GALT):c.207_214del (p.Asp69fs) rs111033655
NM_000155.4(GALT):c.220_221del (p.Leu74fs) rs111033662
NM_000155.4(GALT):c.220_221insG (p.Leu74fs) rs111033659
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) rs111033663
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.253-2A>G rs111033661
NM_000155.4(GALT):c.25C>T (p.Gln9Ter) rs111033848
NM_000155.4(GALT):c.265T>C (p.Tyr89His) rs111033666
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666
NM_000155.4(GALT):c.27G>C (p.Gln9His) rs111033637
NM_000155.4(GALT):c.285T>G (p.Phe95Leu) rs111033668
NM_000155.4(GALT):c.290A>G (p.Asn97Ser) rs111033669
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.308A>G (p.Gln103Arg) rs367543252
NM_000155.4(GALT):c.309G>A (p.Gln103=) rs367543253
NM_000155.4(GALT):c.328+29G>C rs111033671
NM_000155.4(GALT):c.328+2T>C rs111033849
NM_000155.4(GALT):c.329-2A>C rs111033667
NM_000155.4(GALT):c.330A>T (p.Gly110=) rs111033672
NM_000155.4(GALT):c.334dup (p.Ser112fs) rs111033676
NM_000155.4(GALT):c.336T>C (p.Ser112=) rs367543254
NM_000155.4(GALT):c.337G>A (p.Asp113Asn) rs111033677
NM_000155.4(GALT):c.33C>T (p.Arg11=) rs111033633
NM_000155.4(GALT):c.341A>T (p.His114Leu) rs111033678
NM_000155.4(GALT):c.350T>C (p.Phe117Ser) rs111033679
NM_000155.4(GALT):c.354A>C (p.Gln118His) rs111033673
NM_000155.4(GALT):c.367C>G (p.Arg123Gly) rs111033674
NM_000155.4(GALT):c.368G>A (p.Arg123Gln) rs111033675
NM_000155.4(GALT):c.374T>C (p.Val125Ala) rs111033680
NM_000155.4(GALT):c.377+1G>T rs111033681
NM_000155.4(GALT):c.377+53_1059+87del
NM_000155.4(GALT):c.378-27G>C rs41274865
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.4(GALT):c.386T>C (p.Met129Thr) rs111033683
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr) rs367543255
NM_000155.4(GALT):c.392T>G (p.Phe131Cys) rs111033684
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.396C>A (p.His132Gln) rs367543256
NM_000155.4(GALT):c.398_399dup (p.Trp134fs) rs367543269
NM_000155.4(GALT):c.400del (p.Trp134fs) rs111033689
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) rs111033690
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.410dup (p.Thr138fs) rs397515628
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686
NM_000155.4(GALT):c.416T>C (p.Leu139Pro) rs111033687
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) rs111033634
NM_000155.4(GALT):c.424A>G (p.Met142Val) rs111033692
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695
NM_000155.4(GALT):c.425T>C (p.Met142Thr) rs111033695
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.442C>G (p.Arg148Gly) rs111033693
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.4(GALT):c.448G>C (p.Val150Leu) rs111033699
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.460T>C (p.Trp154Arg) rs111033702
NM_000155.4(GALT):c.460T>G (p.Trp154Gly) rs111033702
NM_000155.4(GALT):c.462G>A (p.Trp154Ter) rs111033704
NM_000155.4(GALT):c.482T>C (p.Leu161Pro) rs111033700
NM_000155.4(GALT):c.490C>T (p.Gln164Ter) rs111033705
NM_000155.4(GALT):c.495C>T (p.Tyr165=) rs111033707
NM_000155.4(GALT):c.496C>G (p.Pro166Ala) rs367543257
NM_000155.4(GALT):c.499T>C (p.Trp167Arg) rs111033708
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.505C>A (p.Gln169Lys) rs111033709
NM_000155.4(GALT):c.507+2T>C rs111033710
NM_000155.4(GALT):c.507+62G>A rs2277202
NM_000155.4(GALT):c.508-11C>A rs111033712
NM_000155.4(GALT):c.508-11C>G rs111033712
NM_000155.4(GALT):c.508-24G>A rs41274867
NM_000155.4(GALT):c.508-29del rs111033711
NM_000155.4(GALT):c.508-38T>C rs111033706
NM_000155.4(GALT):c.508-5G>C rs111033714
NM_000155.4(GALT):c.509T>A (p.Ile170Asn) rs111033839
NM_000155.4(GALT):c.509T>C (p.Ile170Thr) rs111033839
NM_000155.4(GALT):c.510C>T (p.Ile170=) rs61735984
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.524G>A (p.Gly175Asp) rs111033718
NM_000155.4(GALT):c.528_529insG (p.Met177fs) rs111033719
NM_000155.4(GALT):c.536G>A (p.Gly179Asp) rs111033720
NM_000155.4(GALT):c.539G>T (p.Cys180Phe) rs111033844
NM_000155.4(GALT):c.541T>G (p.Ser181Ala) rs111033828
NM_000155.4(GALT):c.542C>T (p.Ser181Phe) rs367543259
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.550C>G (p.His184Asp) rs111033716
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.553C>T (p.Pro185Ser) rs111033826
NM_000155.4(GALT):c.554C>A (p.Pro185His) rs111033722
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.556C>T (p.His186Tyr) rs111033725
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.564+15G>A rs111033732
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.564+32T>A rs111033733
NM_000155.4(GALT):c.565-2A>G rs111033731
NM_000155.4(GALT):c.574A>G (p.Ser192Gly) rs111033830
NM_000155.4(GALT):c.575G>A (p.Ser192Asn) rs111033734
NM_000155.4(GALT):c.580T>C (p.Phe194Leu) rs111033726
NM_000155.4(GALT):c.583C>T (p.Leu195=) rs111033727
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728
NM_000155.4(GALT):c.594T>G (p.Ile198Met) rs111033729
NM_000155.4(GALT):c.595G>A (p.Ala199Thr) rs111033730
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737
NM_000155.4(GALT):c.611G>C (p.Arg204Pro) rs111033740
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.626A>G (p.Tyr209Cys) rs111033744
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.635A>C (p.Gln212Pro) rs111033833
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.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.658G>A (p.Glu220Lys) rs111033747
NM_000155.4(GALT):c.658dup (p.Glu220fs) rs111033825
NM_000155.4(GALT):c.667C>A (p.Arg223Ser) rs111033750
NM_000155.4(GALT):c.676C>G (p.Leu226Val) rs111033751
NM_000155.4(GALT):c.677T>C (p.Leu226Pro) rs111033752
NM_000155.4(GALT):c.67A>G (p.Thr23Ala) rs111033635
NM_000155.4(GALT):c.680T>C (p.Leu227Pro) rs111033846
NM_000155.4(GALT):c.687+2T>C rs111033748
NM_000155.4(GALT):c.687G>T (p.Lys229Asn) rs111033753
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.4(GALT):c.692G>A (p.Arg231His) rs111033754
NM_000155.4(GALT):c.697G>C (p.Val233Leu) rs111033843
NM_000155.4(GALT):c.699C>A (p.Val233=) rs111033756
NM_000155.4(GALT):c.719_728del (p.Leu240fs) rs111033838
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>A (p.Pro250Thr) rs111033759
NM_000155.4(GALT):c.752A>C (p.Tyr251Ser) rs111033755
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys) rs111033755
NM_000155.4(GALT):c.753C>T (p.Tyr251=) rs367543261
NM_000155.4(GALT):c.756G>T (p.Gln252His) rs111033769
NM_000155.4(GALT):c.759A>N (p.Thr253=) rs1554709425
NM_000155.4(GALT):c.768_770del (p.Pro257del) rs111033770
NM_000155.4(GALT):c.770C>T (p.Pro257Leu) rs111033845
NM_000155.4(GALT):c.777G>A (p.Arg259=) rs111033761
NM_000155.4(GALT):c.785G>C (p.Arg262Pro) rs111033763
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.4(GALT):c.803C>A (p.Thr268Asn) rs111033847
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.814C>G (p.Arg272Gly) rs111033766
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.820+23T>G rs111033771
NM_000155.4(GALT):c.821-2A>G rs111033767
NM_000155.4(GALT):c.821-46G>T rs111033776
NM_000155.4(GALT):c.824del (p.Leu275fs) rs111033777
NM_000155.4(GALT):c.82G>A (p.Asp28Asn) rs111033636
NM_000155.4(GALT):c.82G>C (p.Asp28His) rs111033636
NM_000155.4(GALT):c.82G>T (p.Asp28Tyr) rs111033636
NM_000155.4(GALT):c.833T>A (p.Ile278Asn) rs111033778
NM_000155.4(GALT):c.836T>G (p.Met279Arg) rs111033779
NM_000155.4(GALT):c.844C>G (p.Leu282Val) rs111033772
NM_000155.4(GALT):c.854A>G (p.Lys285Arg) rs367543263
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262
NM_000155.4(GALT):c.865C>T (p.Leu289Phe) rs111033774
NM_000155.4(GALT):c.866T>G (p.Leu289Arg) rs111033775
NM_000155.4(GALT):c.871G>A (p.Glu291Lys) rs111033780
NM_000155.4(GALT):c.872A>T (p.Glu291Val) rs111033841
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr) rs111033781
NM_000155.4(GALT):c.882del (p.Tyr296fs) rs111033782
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.904+5G>A rs367543264
NM_000155.4(GALT):c.90G>C (p.Gln30His) rs111033834
NM_000155.4(GALT):c.91C>A (p.His31Asn) rs111033643
NM_000155.4(GALT):c.920C>A (p.Ser307Ter) rs367543265
NM_000155.4(GALT):c.922G>A (p.Glu308Lys) rs111033784
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.4(GALT):c.948G>A (p.Trp316Ter) rs111033791
NM_000155.4(GALT):c.949del (p.Gln317fs) rs111033785
NM_000155.4(GALT):c.950A>G (p.Gln317Arg) rs111033786
NM_000155.4(GALT):c.951G>T (p.Gln317His) rs111033787
NM_000155.4(GALT):c.952del (p.Leu318fs) rs111033788
NM_000155.4(GALT):c.954G>A (p.Leu318=) rs111033789
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.957C>T (p.His319=) rs111033792
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795
NM_000155.4(GALT):c.959C>T (p.Ala320Val) rs367543272
NM_000155.4(GALT):c.95T>A (p.Ile32Asn) rs111033644
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266
NM_000155.4(GALT):c.967T>C (p.Tyr323His) rs111033796
NM_000155.4(GALT):c.967T>G (p.Tyr323Asp) rs111033796
NM_000155.4(GALT):c.968A>G (p.Tyr323Cys) rs367543267
NM_000155.4(GALT):c.970C>T (p.Pro324Ser) rs111033798
NM_000155.4(GALT):c.972T>C (p.Pro324=) rs111033793
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794
NM_000155.4(GALT):c.976del (p.Leu326fs) rs111033799
NM_000155.4(GALT):c.979del (p.Leu327fs) rs111033801
NM_000155.4(GALT):c.980T>C (p.Leu327Pro) rs111033832
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802
NM_000155.4(GALT):c.986C>T (p.Ser329Phe) rs111033803
NM_000155.4(GALT):c.989C>T (p.Ala330Val) rs111033804
NM_000155.4(GALT):c.98G>A (p.Arg33His) rs111033829
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808
NM_000155.4(GALT):c.998G>T (p.Arg333Leu) rs111033808
NM_001370658.1(BTD):c.-94C>T rs114567021
NM_001370658.1(BTD):c.100G>T (p.Glu34Ter) rs397514338
NM_001370658.1(BTD):c.1036T>C (p.Ser346Pro) rs397514399
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs) rs1004027979
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu) rs397514400
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter) rs760612966
NM_001370658.1(BTD):c.1097G>A (p.Trp366Ter) rs397514401
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter) rs397514339
NM_001370658.1(BTD):c.1131_1132del (p.Glu377fs)
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro) rs397514406
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1179del (p.Tyr394fs)
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1189G>T (p.Val397Phe) rs397514409
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) rs397514410
NM_001370658.1(BTD):c.1204dup (p.Leu402fs)
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412
NM_001370658.1(BTD):c.1208G>C (p.Cys403Ser) rs397514413
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) rs397514335
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser) rs397514335
NM_001370658.1(BTD):c.1215T>G (p.Tyr405Ter) rs397514414
NM_001370658.1(BTD):c.1224C>A (p.Tyr408Ter) rs35145938
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val) rs1553654107
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170
NM_001370658.1(BTD):c.124G>T (p.Val42Leu) rs397507170
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys) rs397514415
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) rs397514416
NM_001370658.1(BTD):c.1268T>C (p.Phe423Ser) rs1559600573
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1273G>A (p.Gly425Arg) rs397514417
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu) rs397514402
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp) rs397514419
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs) rs1553654142
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1309G>A (p.Val437Met) rs146600671
NM_001370658.1(BTD):c.130G>A (p.Glu44Lys) rs397514340
NM_001370658.1(BTD):c.1312dup (p.Cys438fs) rs587783007
NM_001370658.1(BTD):c.1324del (p.Arg442fs)
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr) rs397514421
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp) rs397514436
NM_001370658.1(BTD):c.1334dup (p.Leu446fs) rs397514440
NM_001370658.1(BTD):c.134A>G (p.His45Arg) rs397514341
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1398del (p.Trp467fs) rs1559600895
NM_001370658.1(BTD):c.1399T>C (p.Trp467Arg) rs397514422
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423
NM_001370658.1(BTD):c.1403G>A (p.Gly468Asp) rs397514424
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys) rs750598655
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs) rs1205964567
NM_001370658.1(BTD):c.1433dup (p.Leu478fs) rs397514425
NM_001370658.1(BTD):c.1451T>A (p.Met484Lys) rs397514426
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg) rs1559601041
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427
NM_001370658.1(BTD):c.1497T>G (p.Tyr499Ter) rs1559601106
NM_001370658.1(BTD):c.151C>T (p.Leu51=) rs397514342
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu) rs397514428
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429
NM_001370658.1(BTD):c.1556dup (p.Leu519fs) rs397514430
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys) rs397514431
NM_001370658.1(BTD):c.1567G>C (p.Asp523His) rs397514432
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val) rs1050035768
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265
NM_001370658.1(BTD):c.174C>T (p.Ser58=) rs397514344
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343
NM_001370658.1(BTD):c.185C>A (p.Ala62Asp) rs397507171
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) rs397514347
NM_001370658.1(BTD):c.197T>G (p.Met66Arg) rs587783002
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.202C>T (p.Gln68Ter) rs151071780
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.223C>T (p.Gln75Ter) rs397514349
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr) rs397514350
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001370658.1(BTD):c.250-15del rs587783008
NM_001370658.1(BTD):c.250G>T (p.Asp84Tyr) rs397514351
NM_001370658.1(BTD):c.261T>G (p.Ile87Met) rs1024847163
NM_001370658.1(BTD):c.263_264dup (p.Val89Ter) rs1559596792
NM_001370658.1(BTD):c.266T>G (p.Val89Gly) rs397507172
NM_001370658.1(BTD):c.266dup (p.Phe90fs) rs1559596828
NM_001370658.1(BTD):c.274G>A (p.Glu92Lys) rs397514352
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) rs397514352
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser) rs397514353
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.322T>G (p.Phe108Val) rs397514355
NM_001370658.1(BTD):c.333del (p.Phe111fs)
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799
NM_001370658.1(BTD):c.346del (p.Gln116fs) rs1404904752
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001370658.1(BTD):c.368G>T (p.Cys123Phe) rs1336386457
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.384C>A (p.Arg128=) rs397514358
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.394A>C (p.Thr132Pro) rs374681173
NM_001370658.1(BTD):c.395C>G (p.Thr132Arg) rs587783003
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.39C>T (p.Cys13=) rs201564216
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter) rs397514362
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364
NM_001370658.1(BTD):c.430_431del (p.Arg144fs)
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser) rs397514366
NM_001370658.1(BTD):c.458T>G (p.Leu153Arg) rs397514437
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367
NM_001370658.1(BTD):c.484del (p.Ser162fs) rs397514368
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369
NM_001370658.1(BTD):c.499C>T (p.Pro167Ser) rs397507173
NM_001370658.1(BTD):c.506A>G (p.Asp169Gly) rs139829181
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser) rs397514371
NM_001370658.1(BTD):c.527C>G (p.Thr176Arg) rs397514372
NM_001370658.1(BTD):c.534_536del (p.Val179del)
NM_001370658.1(BTD):c.534del (p.Val179fs)
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) rs397507174
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636
NM_001370658.1(BTD):c.571del (p.Arg191fs) rs1559599230
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314
NM_001370658.1(BTD):c.586T>A (p.Tyr196Asn) rs1559599267
NM_001370658.1(BTD):c.592G>C (p.Glu198Gln) rs397514378
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp) rs397514379
NM_001370658.1(BTD):c.604G>C (p.Asp202His) rs200337373
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001370658.1(BTD):c.623A>G (p.Asp208Gly) rs587783004
NM_001370658.1(BTD):c.633del (p.Phe212fs) rs1559599378
NM_001370658.1(BTD):c.635T>C (p.Phe212Ser) rs768097543
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu) rs397514438
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384
NM_001370658.1(BTD):c.710T>A (p.Val237Asp) rs1190721481
NM_001370658.1(BTD):c.723C>G (p.Tyr241Ter) rs372687866
NM_001370658.1(BTD):c.734A>T (p.His245Leu) rs397514385
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) rs397514387
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter) rs148031701
NM_001370658.1(BTD):c.76G>T (p.Glu26Ter) rs397514336
NM_001370658.1(BTD):c.772C>G (p.Leu258Val) rs397514388
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.776T>A (p.Leu259Ter) rs397514390
NM_001370658.1(BTD):c.776T>G (p.Leu259Trp) rs397514390
NM_001370658.1(BTD):c.796A>G (p.Lys266Glu) rs1559599682
NM_001370658.1(BTD):c.805G>C (p.Ala269Pro) rs397514334
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001370658.1(BTD):c.827T>G (p.Val276Gly) rs397514391
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001370658.1(BTD):c.836C>T (p.Ala279Val) rs397514392
NM_001370658.1(BTD):c.838A>C (p.Asn280His) rs587783006
NM_001370658.1(BTD):c.869G>A (p.Gly290Glu) rs397514393
NM_001370658.1(BTD):c.872G>A (p.Ser291Asn) rs397514394
NM_001370658.1(BTD):c.873T>G (p.Ser291Arg) rs397514386
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser) rs397514396
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_001370658.1(BTD):c.941T>A (p.Ile314Asn) rs397514433
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr) rs200327983
NM_001370658.1(BTD):c.989del (p.Ala330fs) rs397514397
NM_001370658.1(BTD):c.992del (p.Thr331fs) rs397514398

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