NM_000154.2(GALK1):c.476-74C>A
|
rs820386
|
0.96509
|
NM_000154.2(GALK1):c.356-32C>T
|
rs7209235
|
0.67684
|
NM_000154.2(GALK1):c.1108-40C>T
|
rs743554
|
0.16712
|
NM_000154.2(GALK1):c.189G>A (p.Leu63=)
|
rs7211385
|
0.03914
|
NM_000154.2(GALK1):c.611+34G>A
|
rs76743658
|
0.01955
|
NM_000154.2(GALK1):c.957G>A (p.Glu319=)
|
rs76160162
|
0.00410
|
NM_000154.2(GALK1):c.*32C>T
|
rs116845474
|
0.00367
|
NM_000154.2(GALK1):c.1107+5G>A
|
rs201663491
|
0.00297
|
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln)
|
rs145641205
|
0.00200
|
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys)
|
rs201972845
|
0.00173
|
NM_000154.2(GALK1):c.611+18C>T
|
rs188851202
|
0.00140
|
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)
|
rs80084721
|
0.00124
|
NM_000154.2(GALK1):c.1167G>A (p.Val389=)
|
rs150586960
|
0.00113
|
NM_000154.2(GALK1):c.864G>C (p.Thr288=)
|
rs201247556
|
0.00083
|
NM_000154.2(GALK1):c.746C>T (p.Ala249Val)
|
rs149825190
|
0.00066
|
NM_000154.2(GALK1):c.611+9C>T
|
rs370204015
|
0.00064
|
NM_000154.2(GALK1):c.432C>T (p.Ser144=)
|
rs150323432
|
0.00058
|
NM_000154.2(GALK1):c.66G>A (p.Glu22=)
|
rs367558510
|
0.00045
|
NM_000154.2(GALK1):c.747G>A (p.Ala249=)
|
rs140053358
|
0.00037
|
NM_000154.2(GALK1):c.794-17T>G
|
rs372098011
|
0.00035
|
NM_000154.2(GALK1):c.*85C>T
|
rs542735255
|
0.00026
|
NM_000154.2(GALK1):c.-22T>C
|
rs545362817
|
0.00026
|
NM_000154.2(GALK1):c.447G>A (p.Thr149=)
|
rs765744088
|
0.00024
|
NM_000154.2(GALK1):c.591C>T (p.His197=)
|
rs142992759
|
0.00020
|
NM_000154.2(GALK1):c.987G>A (p.Val329=)
|
rs184160171
|
0.00018
|
NM_000154.2(GALK1):c.876G>A (p.Ala292=)
|
rs375015389
|
0.00013
|
NM_000154.2(GALK1):c.1044C>T (p.Phe348=)
|
rs372653001
|
0.00012
|
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp)
|
rs536478616
|
0.00011
|
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)
|
rs376790302
|
0.00010
|
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=)
|
rs763195503
|
0.00009
|
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter)
|
rs111033608
|
0.00009
|
NM_000154.2(GALK1):c.60C>T (p.Phe20=)
|
rs556192480
|
0.00009
|
NM_000154.2(GALK1):c.840C>T (p.His280=)
|
rs375779311
|
0.00009
|
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)
|
rs375690568
|
0.00007
|
NM_000154.2(GALK1):c.165+6G>A
|
rs779996721
|
0.00006
|
NM_000154.2(GALK1):c.267G>T (p.Gln89His)
|
rs144915547
|
0.00006
|
NM_000154.2(GALK1):c.657C>T (p.Ala219=)
|
rs754593748
|
0.00006
|
NM_000154.2(GALK1):c.742C>T (p.Arg248Trp)
|
rs541580127
|
0.00006
|
NM_000154.2(GALK1):c.1152C>T (p.Ala384=)
|
rs373041566
|
0.00005
|
NM_000154.2(GALK1):c.300G>A (p.Glu100=)
|
rs776426036
|
0.00005
|
NM_000154.2(GALK1):c.830G>A (p.Arg277Gln)
|
rs370029131
|
0.00005
|
NM_000154.2(GALK1):c.856C>T (p.Arg286Trp)
|
rs370987432
|
0.00005
|
NM_000154.2(GALK1):c.935G>A (p.Arg312His)
|
rs181526665
|
0.00005
|
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)
|
rs371517491
|
0.00004
|
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)
|
rs754967473
|
0.00004
|
NM_000154.2(GALK1):c.1077C>T (p.Ser359=)
|
rs376050836
|
0.00004
|
NM_000154.2(GALK1):c.765C>T (p.Leu255=)
|
rs146095595
|
0.00004
|
NM_000154.2(GALK1):c.1024C>T (p.Arg342Cys)
|
rs769167240
|
0.00003
|
NM_000154.2(GALK1):c.105G>C (p.Pro35=)
|
rs373829335
|
0.00003
|
NM_000154.2(GALK1):c.1108-12C>T
|
rs755467791
|
0.00003
|
NM_000154.2(GALK1):c.369T>C (p.Pro123=)
|
rs1303520004
|
0.00003
|
NM_000154.2(GALK1):c.382G>A (p.Val128Met)
|
rs767156604
|
0.00003
|
NM_000154.2(GALK1):c.42C>T (p.Ala14=)
|
rs905607688
|
0.00003
|
NM_000154.2(GALK1):c.531C>T (p.Phe177=)
|
rs147739431
|
0.00003
|
NM_000154.2(GALK1):c.552C>G (p.Ile184Met)
|
rs773416476
|
0.00003
|
NM_000154.2(GALK1):c.94G>A (p.Val32Met)
|
rs104894576
|
0.00003
|
NM_000154.2(GALK1):c.1025G>A (p.Arg342His)
|
rs867405975
|
0.00002
|
NM_000154.2(GALK1):c.1032G>A (p.Thr344=)
|
rs771995336
|
0.00002
|
NM_000154.2(GALK1):c.1035C>T (p.Gly345=)
|
rs576223041
|
0.00002
|
NM_000154.2(GALK1):c.1089C>T (p.His363=)
|
rs200502537
|
0.00002
|
NM_000154.2(GALK1):c.1107+9G>A
|
rs763207227
|
0.00002
|
NM_000154.2(GALK1):c.1155T>C (p.Asp385=)
|
rs747793390
|
0.00002
|
NM_000154.2(GALK1):c.116A>G (p.Asn39Ser)
|
rs536209426
|
0.00002
|
NM_000154.2(GALK1):c.171G>A (p.Leu57=)
|
rs779604073
|
0.00002
|
NM_000154.2(GALK1):c.289C>T (p.Arg97Cys)
|
rs371641311
|
0.00002
|
NM_000154.2(GALK1):c.294G>T (p.Ser98=)
|
rs766656571
|
0.00002
|
NM_000154.2(GALK1):c.703G>A (p.Glu235Lys)
|
rs764167059
|
0.00002
|
NM_000154.2(GALK1):c.771G>A (p.Glu257=)
|
rs764099539
|
0.00002
|
NM_000154.2(GALK1):c.836G>A (p.Arg279Gln)
|
rs779054525
|
0.00002
|
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)
|
rs759284637
|
0.00002
|
NM_000154.2(GALK1):c.928A>G (p.Ser310Gly)
|
rs201681295
|
0.00002
|
NM_000154.2(GALK1):c.948C>T (p.Asp316=)
|
rs370706611
|
0.00002
|
NM_000154.2(GALK1):c.1005G>T (p.Val335=)
|
rs1182006462
|
0.00001
|
NM_000154.2(GALK1):c.104C>T (p.Pro35Leu)
|
rs766223704
|
0.00001
|
NM_000154.2(GALK1):c.1057G>A (p.Val353Met)
|
rs749948423
|
0.00001
|
NM_000154.2(GALK1):c.1059del (p.Thr354fs)
|
rs2061564118
|
0.00001
|
NM_000154.2(GALK1):c.106G>C (p.Gly36Arg)
|
rs1214866139
|
0.00001
|
NM_000154.2(GALK1):c.1097G>A (p.Arg366Gln)
|
rs538714933
|
0.00001
|
NM_000154.2(GALK1):c.1101C>T (p.His367=)
|
rs1436958552
|
0.00001
|
NM_000154.2(GALK1):c.1107+14A>G
|
rs779926252
|
0.00001
|
NM_000154.2(GALK1):c.1107+7G>A
|
rs768625071
|
0.00001
|
NM_000154.2(GALK1):c.1117G>A (p.Gly373Ser)
|
rs773416475
|
0.00001
|
NM_000154.2(GALK1):c.1120G>A (p.Gly374Arg)
|
rs201811960
|
0.00001
|
NM_000154.2(GALK1):c.1137C>T (p.Tyr379=)
|
rs2061561144
|
0.00001
|
NM_000154.2(GALK1):c.1175T>C (p.Leu392Ser)
|
rs371755069
|
0.00001
|
NM_000154.2(GALK1):c.153G>T (p.Leu51=)
|
rs573790143
|
0.00001
|
NM_000154.2(GALK1):c.166-1G>C
|
rs142772020
|
0.00001
|
NM_000154.2(GALK1):c.183G>A (p.Thr61=)
|
rs1488762066
|
0.00001
|
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys)
|
rs1365349586
|
0.00001
|
NM_000154.2(GALK1):c.203G>T (p.Arg68Leu)
|
rs754230597
|
0.00001
|
NM_000154.2(GALK1):c.216G>A (p.Leu72=)
|
rs752773767
|
0.00001
|
NM_000154.2(GALK1):c.260G>A (p.Arg87Gln)
|
rs572575400
|
0.00001
|
NM_000154.2(GALK1):c.273A>G (p.Pro91=)
|
rs2061599258
|
0.00001
|
NM_000154.2(GALK1):c.291C>G (p.Arg97=)
|
rs368542855
|
0.00001
|
NM_000154.2(GALK1):c.30G>T (p.Ala10=)
|
rs1174194549
|
0.00001
|
NM_000154.2(GALK1):c.321C>T (p.Ala107=)
|
rs771880802
|
0.00001
|
NM_000154.2(GALK1):c.355+9C>A
|
rs1437523931
|
0.00001
|
NM_000154.2(GALK1):c.356-10T>C
|
rs1282630071
|
0.00001
|
NM_000154.2(GALK1):c.408G>A (p.Gly136=)
|
rs138057626
|
0.00001
|
NM_000154.2(GALK1):c.417G>C (p.Leu139=)
|
rs761316738
|
0.00001
|
NM_000154.2(GALK1):c.441G>A (p.Val147=)
|
rs780587160
|
0.00001
|
NM_000154.2(GALK1):c.475+7G>C
|
rs375660566
|
0.00001
|
NM_000154.2(GALK1):c.476-9G>A
|
rs774490771
|
0.00001
|
NM_000154.2(GALK1):c.480G>A (p.Ser160=)
|
rs756405600
|
0.00001
|
NM_000154.2(GALK1):c.485C>G (p.Thr162Arg)
|
rs555279924
|
0.00001
|
NM_000154.2(GALK1):c.498C>T (p.Arg166=)
|
rs763880577
|
0.00001
|
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys)
|
rs1363497653
|
0.00001
|
NM_000154.2(GALK1):c.587G>A (p.Gly196Asp)
|
rs771717336
|
0.00001
|
NM_000154.2(GALK1):c.611+10G>A
|
rs766858133
|
0.00001
|
NM_000154.2(GALK1):c.611+1G>T
|
rs982043960
|
0.00001
|
NM_000154.2(GALK1):c.628C>T (p.Leu210=)
|
rs1435062185
|
0.00001
|
NM_000154.2(GALK1):c.645C>T (p.Asp215=)
|
rs201939520
|
0.00001
|
NM_000154.2(GALK1):c.654G>A (p.Leu218=)
|
rs1487175886
|
0.00001
|
NM_000154.2(GALK1):c.699C>T (p.Ser233=)
|
rs1402390213
|
0.00001
|
NM_000154.2(GALK1):c.716G>A (p.Arg239Gln)
|
rs575139300
|
0.00001
|
NM_000154.2(GALK1):c.744G>A (p.Arg248=)
|
rs774107830
|
0.00001
|
NM_000154.2(GALK1):c.748C>T (p.Leu250=)
|
rs904702679
|
0.00001
|
NM_000154.2(GALK1):c.759A>G (p.Glu253=)
|
rs1177538590
|
0.00001
|
NM_000154.2(GALK1):c.786G>A (p.Glu262=)
|
rs756263074
|
0.00001
|
NM_000154.2(GALK1):c.793+1G>T
|
rs767790909
|
0.00001
|
NM_000154.2(GALK1):c.814A>G (p.Lys272Glu)
|
rs558638718
|
0.00001
|
NM_000154.2(GALK1):c.821G>A (p.Gly274Asp)
|
rs959842362
|
0.00001
|
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)
|
rs104894572
|
0.00001
|
NM_000154.2(GALK1):c.841G>A (p.Val281Met)
|
rs753571180
|
0.00001
|
NM_000154.2(GALK1):c.84C>G (p.Pro28=)
|
rs757263223
|
0.00001
|
NM_000154.2(GALK1):c.858G>A (p.Arg286=)
|
rs1349483506
|
0.00001
|
NM_000154.2(GALK1):c.909T>C (p.Phe303=)
|
rs1337504590
|
0.00001
|
NM_000154.2(GALK1):c.915C>T (p.Arg305=)
|
rs763728671
|
0.00001
|
NM_000154.2(GALK1):c.919_921del (p.Met307del)
|
rs1247635972
|
0.00001
|
NM_000154.2(GALK1):c.933C>T (p.His311=)
|
rs759153077
|
0.00001
|
NM_000154.2(GALK1):c.93C>G (p.Ala31=)
|
rs1165544582
|
0.00001
|
NM_000154.2(GALK1):c.966C>T (p.Cys322=)
|
rs969862473
|
0.00001
|
NM_000154.2(GALK1):c.975G>A (p.Leu325=)
|
rs1247403138
|
0.00001
|
NM_000154.2(GALK1):c.978C>T (p.Asp326=)
|
rs765769433
|
0.00001
|
NM_000154.2(GALK1):c.982C>T (p.Leu328=)
|
rs374440207
|
0.00001
|
NM_000154.2(GALK1):c.995C>T (p.Ala332Val)
|
rs886053419
|
0.00001
|
NM_000154.2(GALK1):c.996G>A (p.Ala332=)
|
rs1456156062
|
0.00001
|
NC_000017.10:g.(73754681_73758784)_(73761281_?)del
|
|
|
NC_000017.10:g.(?_73754127)_(73754690_?)del
|
|
|
NC_000017.10:g.(?_73754127)_(73761239_?)del
|
|
|
NC_000017.10:g.(?_73758775)_(73761239_?)del
|
|
|
NC_000017.10:g.(?_73759968)_(73761239_?)del
|
|
|
NM_000154.2(GALK1):c.-27A>C
|
rs767223937
|
|
NM_000154.2(GALK1):c.-33_-20dup
|
rs1555748974
|
|
NM_000154.2(GALK1):c.1011G>C (p.Gly337=)
|
rs764915515
|
|
NM_000154.2(GALK1):c.1012dup (p.Val338fs)
|
rs1555747776
|
|
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter)
|
rs1026685248
|
|
NM_000154.2(GALK1):c.1026C>T (p.Arg342=)
|
|
|
NM_000154.2(GALK1):c.102G>A (p.Ala34=)
|
|
|
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs)
|
rs771067891
|
|
NM_000154.2(GALK1):c.1055C>A (p.Thr352Lys)
|
|
|
NM_000154.2(GALK1):c.1055_1056del (p.Thr352fs)
|
|
|
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs)
|
rs2061563475
|
|
NM_000154.2(GALK1):c.1092C>G (p.Ala364=)
|
|
|
NM_000154.2(GALK1):c.1094T>C (p.Met365Thr)
|
rs2061563511
|
|
NM_000154.2(GALK1):c.1096C>A (p.Arg366=)
|
|
|
NM_000154.2(GALK1):c.1096C>G (p.Arg366Gly)
|
rs536478616
|
|
NM_000154.2(GALK1):c.10T>C (p.Leu4=)
|
rs2143608703
|
|
NM_000154.2(GALK1):c.1105C>T (p.Gln369Ter)
|
|
|
NM_000154.2(GALK1):c.1107+12C>T
|
|
|
NM_000154.2(GALK1):c.1107+18C>T
|
|
|
NM_000154.2(GALK1):c.1107+1G>A
|
rs2143585254
|
|
NM_000154.2(GALK1):c.1108-11G>A
|
|
|
NM_000154.2(GALK1):c.1108-15G>A
|
|
|
NM_000154.2(GALK1):c.1108-17C>A
|
|
|
NM_000154.2(GALK1):c.1108-17C>T
|
|
|
NM_000154.2(GALK1):c.1108-18C>G
|
|
|
NM_000154.2(GALK1):c.1108-19C>T
|
|
|
NM_000154.2(GALK1):c.1108-20C>T
|
rs755750574
|
|
NM_000154.2(GALK1):c.1113C>T (p.His371=)
|
|
|
NM_000154.2(GALK1):c.1122G>C (p.Gly374=)
|
|
|
NM_000154.2(GALK1):c.1131C>T (p.Thr377=)
|
rs1359178236
|
|
NM_000154.2(GALK1):c.1132T>G (p.Phe378Val)
|
|
|
NM_000154.2(GALK1):c.1140C>G (p.Leu380=)
|
|
|
NM_000154.2(GALK1):c.1140C>T (p.Leu380=)
|
rs1244261337
|
|
NM_000154.2(GALK1):c.114C>T (p.Val38=)
|
|
|
NM_000154.2(GALK1):c.1150G>C (p.Ala384Pro)
|
|
|
NM_000154.2(GALK1):c.1161C>T (p.Ala387=)
|
|
|
NM_000154.2(GALK1):c.1168C>T (p.Leu390=)
|
|
|
NM_000154.2(GALK1):c.116A>C (p.Asn39Thr)
|
rs536209426
|
|
NM_000154.2(GALK1):c.1176G>A (p.Leu392=)
|
|
|
NM_000154.2(GALK1):c.117C>T (p.Asn39=)
|
rs1599336904
|
|
NM_000154.2(GALK1):c.121A>T (p.Ile41Phe)
|
rs1185378925
|
|
NM_000154.2(GALK1):c.123C>A (p.Ile41=)
|
|
|
NM_000154.2(GALK1):c.130C>T (p.His44Tyr)
|
rs1555748926
|
|
NM_000154.2(GALK1):c.135G>A (p.Thr45=)
|
|
|
NM_000154.2(GALK1):c.138C>T (p.Asp46=)
|
|
|
NM_000154.2(GALK1):c.141C>T (p.Tyr47=)
|
|
|
NM_000154.2(GALK1):c.144C>T (p.Asn48=)
|
rs746381829
|
|
NM_000154.2(GALK1):c.147G>A (p.Gln49=)
|
rs1438305118
|
|
NM_000154.2(GALK1):c.150C>T (p.Gly50=)
|
rs1599336859
|
|
NM_000154.2(GALK1):c.153G>A (p.Leu51=)
|
|
|
NM_000154.2(GALK1):c.157C>T (p.Leu53=)
|
rs1325878350
|
|
NM_000154.2(GALK1):c.162T>G (p.Pro54=)
|
|
|
NM_000154.2(GALK1):c.162dup (p.Met55fs)
|
rs2143608028
|
|
NM_000154.2(GALK1):c.163A>G (p.Met55Val)
|
rs925336919
|
|
NM_000154.2(GALK1):c.165+11G>C
|
|
|
NM_000154.2(GALK1):c.165+13A>T
|
|
|
NM_000154.2(GALK1):c.165+14C>A
|
|
|
NM_000154.2(GALK1):c.165+15G>A
|
|
|
NM_000154.2(GALK1):c.165+20G>T
|
|
|
NM_000154.2(GALK1):c.165+8dup
|
|
|
NM_000154.2(GALK1):c.166-10C>T
|
rs768552200
|
|
NM_000154.2(GALK1):c.166-12C>G
|
|
|
NM_000154.2(GALK1):c.166-18_166-3dup
|
rs2143605592
|
|
NM_000154.2(GALK1):c.166-5_166-4delinsAT
|
rs2143605594
|
|
NM_000154.2(GALK1):c.166-5_227dup
|
rs2143605351
|
|
NM_000154.2(GALK1):c.166-6T>C
|
|
|
NM_000154.2(GALK1):c.166-6dup
|
rs2143605607
|
|
NM_000154.2(GALK1):c.166-7C>A
|
|
|
NM_000154.2(GALK1):c.166-8C>A
|
|
|
NM_000154.2(GALK1):c.166-9T>C
|
rs2143605624
|
|
NM_000154.2(GALK1):c.171G>C (p.Leu57=)
|
|
|
NM_000154.2(GALK1):c.177C>T (p.Leu59=)
|
|
|
NM_000154.2(GALK1):c.183G>C (p.Thr61=)
|
|
|
NM_000154.2(GALK1):c.187C>T (p.Leu63=)
|
rs1555748724
|
|
NM_000154.2(GALK1):c.18G>A (p.Gln6=)
|
|
|
NM_000154.2(GALK1):c.195C>T (p.Gly65=)
|
rs1301639431
|
|
NM_000154.2(GALK1):c.1A>C (p.Met1Leu)
|
rs1311294794
|
|
NM_000154.2(GALK1):c.1A>G (p.Met1Val)
|
|
|
NM_000154.2(GALK1):c.1A>T (p.Met1Leu)
|
|
|
NM_000154.2(GALK1):c.202dup (p.Arg68fs)
|
|
|
NM_000154.2(GALK1):c.204C>G (p.Arg68=)
|
|
|
NM_000154.2(GALK1):c.204C>T (p.Arg68=)
|
|
|
NM_000154.2(GALK1):c.205A>T (p.Lys69Ter)
|
|
|
NM_000154.2(GALK1):c.206dup (p.Asp70fs)
|
|
|
NM_000154.2(GALK1):c.207G>A (p.Lys69=)
|
|
|
NM_000154.2(GALK1):c.21C>A (p.Pro7=)
|
|
|
NM_000154.2(GALK1):c.231C>A (p.Thr77=)
|
rs2143605334
|
|
NM_000154.2(GALK1):c.234C>T (p.Thr78=)
|
|
|
NM_000154.2(GALK1):c.238G>T (p.Glu80Ter)
|
rs104894577
|
|
NM_000154.2(GALK1):c.246C>T (p.Ala82=)
|
rs746991487
|
|
NM_000154.2(GALK1):c.250G>T (p.Glu84Ter)
|
rs761638957
|
|
NM_000154.2(GALK1):c.255C>T (p.Pro85=)
|
rs2143605234
|
|
NM_000154.2(GALK1):c.261G>A (p.Arg87=)
|
rs2143605202
|
|
NM_000154.2(GALK1):c.264G>A (p.Leu88=)
|
|
|
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter)
|
rs2143605190
|
|
NM_000154.2(GALK1):c.270T>G (p.Phe90Leu)
|
|
|
NM_000154.2(GALK1):c.276G>A (p.Leu92=)
|
|
|
NM_000154.2(GALK1):c.279C>G (p.Pro93=)
|
rs749735019
|
|
NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)
|
|
|
NM_000154.2(GALK1):c.294G>A (p.Ser98=)
|
|
|
NM_000154.2(GALK1):c.294G>C (p.Ser98=)
|
|
|
NM_000154.2(GALK1):c.295C>T (p.Leu99=)
|
|
|
NM_000154.2(GALK1):c.297G>A (p.Leu99=)
|
rs1568395582
|
|
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
|
rs2061599016
|
|
NM_000154.2(GALK1):c.30G>C (p.Ala10=)
|
rs1174194549
|
|
NM_000154.2(GALK1):c.317G>A (p.Trp106Ter)
|
rs2061598873
|
|
NM_000154.2(GALK1):c.324C>T (p.Asn108=)
|
rs2143604949
|
|
NM_000154.2(GALK1):c.327dup (p.Val110fs)
|
|
|
NM_000154.2(GALK1):c.331A>T (p.Lys111Ter)
|
|
|
NM_000154.2(GALK1):c.336A>G (p.Gly112=)
|
rs2061598790
|
|
NM_000154.2(GALK1):c.336A>T (p.Gly112=)
|
|
|
NM_000154.2(GALK1):c.339G>T (p.Val113=)
|
|
|
NM_000154.2(GALK1):c.33G>A (p.Glu11=)
|
rs2143608612
|
|
NM_000154.2(GALK1):c.345G>A (p.Gln115=)
|
rs748888762
|
|
NM_000154.2(GALK1):c.348C>T (p.Tyr116=)
|
|
|
NM_000154.2(GALK1):c.350del (p.Tyr117fs)
|
|
|
NM_000154.2(GALK1):c.351C>T (p.Tyr117=)
|
rs778282318
|
|
NM_000154.2(GALK1):c.355+10C>G
|
|
|
NM_000154.2(GALK1):c.355+11C>G
|
|
|
NM_000154.2(GALK1):c.355+14G>T
|
|
|
NM_000154.2(GALK1):c.355+1G>A
|
|
|
NM_000154.2(GALK1):c.355+7G>C
|
|
|
NM_000154.2(GALK1):c.355+8G>A
|
|
|
NM_000154.2(GALK1):c.355+8G>T
|
|
|
NM_000154.2(GALK1):c.356-11T>G
|
|
|
NM_000154.2(GALK1):c.356-19C>T
|
rs781400629
|
|
NM_000154.2(GALK1):c.356-20A>G
|
|
|
NM_000154.2(GALK1):c.356-8C>A
|
|
|
NM_000154.2(GALK1):c.356-8C>T
|
|
|
NM_000154.2(GALK1):c.363C>A (p.Pro121=)
|
rs779234943
|
|
NM_000154.2(GALK1):c.364del (p.Leu122fs)
|
rs2061596711
|
|
NM_000154.2(GALK1):c.372C>A (p.Gly124=)
|
rs2061596661
|
|
NM_000154.2(GALK1):c.37C>A (p.Leu13Met)
|
rs1001223598
|
|
NM_000154.2(GALK1):c.396A>C (p.Ser132=)
|
rs766401384
|
|
NM_000154.2(GALK1):c.396A>G (p.Ser132=)
|
rs766401384
|
|
NM_000154.2(GALK1):c.399G>A (p.Val133=)
|
|
|
NM_000154.2(GALK1):c.39G>T (p.Leu13=)
|
rs2143608593
|
|
NM_000154.2(GALK1):c.403del (p.Leu135fs)
|
|
|
NM_000154.2(GALK1):c.406G>C (p.Gly136Arg)
|
|
|
NM_000154.2(GALK1):c.408G>C (p.Gly136=)
|
rs138057626
|
|
NM_000154.2(GALK1):c.409G>C (p.Gly137Arg)
|
rs1555748630
|
|
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp)
|
rs915070690
|
|
NM_000154.2(GALK1):c.410del (p.Gly137fs)
|
rs767329054
|
|
NM_000154.2(GALK1):c.410dup (p.Gly138fs)
|
rs767329054
|
|
NM_000154.2(GALK1):c.416T>C (p.Leu139Pro)
|
|
|
NM_000154.2(GALK1):c.417G>A (p.Leu139=)
|
rs761316738
|
|
NM_000154.2(GALK1):c.420C>T (p.Ser140=)
|
|
|
NM_000154.2(GALK1):c.425_426delinsT (p.Ser142fs)
|
|
|
NM_000154.2(GALK1):c.42C>G (p.Ala14=)
|
rs905607688
|
|
NM_000154.2(GALK1):c.432C>G (p.Ser144=)
|
rs150323432
|
|
NM_000154.2(GALK1):c.438A>G (p.Glu146=)
|
rs2143603645
|
|
NM_000154.2(GALK1):c.442G>T (p.Ala148Ser)
|
|
|
NM_000154.2(GALK1):c.447G>C (p.Thr149=)
|
rs765744088
|
|
NM_000154.2(GALK1):c.450C>T (p.Tyr150=)
|
|
|
NM_000154.2(GALK1):c.459C>T (p.Leu153=)
|
rs147800408
|
|
NM_000154.2(GALK1):c.460C>T (p.Gln154Ter)
|
rs2143603585
|
|
NM_000154.2(GALK1):c.465G>A (p.Gln155=)
|
|
|
NM_000154.2(GALK1):c.471T>C (p.Cys157=)
|
|
|
NM_000154.2(GALK1):c.475+14C>T
|
|
|
NM_000154.2(GALK1):c.475+19C>G
|
|
|
NM_000154.2(GALK1):c.475+1G>A
|
|
|
NM_000154.2(GALK1):c.476-10T>C
|
|
|
NM_000154.2(GALK1):c.476-17C>T
|
|
|
NM_000154.2(GALK1):c.476-17dup
|
|
|
NM_000154.2(GALK1):c.476-2A>G
|
|
|
NM_000154.2(GALK1):c.476-8_476-4del
|
|
|
NM_000154.2(GALK1):c.479C>A (p.Ser160Ter)
|
rs575077063
|
|
NM_000154.2(GALK1):c.479C>T (p.Ser160Leu)
|
rs575077063
|
|
NM_000154.2(GALK1):c.486A>G (p.Thr162=)
|
|
|
NM_000154.2(GALK1):c.486A>T (p.Thr162=)
|
|
|
NM_000154.2(GALK1):c.489A>T (p.Ile163=)
|
rs2143603001
|
|
NM_000154.2(GALK1):c.495C>T (p.Ala165=)
|
rs750290029
|
|
NM_000154.2(GALK1):c.501C>A (p.Ala167=)
|
|
|
NM_000154.2(GALK1):c.501C>T (p.Ala167=)
|
|
|
NM_000154.2(GALK1):c.507G>A (p.Val169=)
|
rs760305997
|
|
NM_000154.2(GALK1):c.510T>A (p.Cys170Ter)
|
rs775843885
|
|
NM_000154.2(GALK1):c.511CAG[1] (p.Gln172del)
|
rs1555748595
|
|
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter)
|
rs767799179
|
|
NM_000154.2(GALK1):c.516G>A (p.Gln172=)
|
rs1282302483
|
|
NM_000154.2(GALK1):c.519C>A (p.Ala173=)
|
rs141983398
|
|
NM_000154.2(GALK1):c.519C>G (p.Ala173=)
|
rs141983398
|
|
NM_000154.2(GALK1):c.519C>T (p.Ala173=)
|
rs141983398
|
|
NM_000154.2(GALK1):c.520G>T (p.Glu174Ter)
|
|
|
NM_000154.2(GALK1):c.530del (p.Phe177fs)
|
rs2061594762
|
|
NM_000154.2(GALK1):c.537G>A (p.Gly179=)
|
rs2143602754
|
|
NM_000154.2(GALK1):c.543C>T (p.Pro181=)
|
|
|
NM_000154.2(GALK1):c.547_562del (p.Gly183fs)
|
|
|
NM_000154.2(GALK1):c.56C>A (p.Ala19Asp)
|
|
|
NM_000154.2(GALK1):c.573T>A (p.Leu191=)
|
rs2061594551
|
|
NM_000154.2(GALK1):c.573T>C (p.Leu191=)
|
rs2061594551
|
|
NM_000154.2(GALK1):c.573del (p.Met192fs)
|
|
|
NM_000154.2(GALK1):c.57C>T (p.Ala19=)
|
|
|
NM_000154.2(GALK1):c.580C>T (p.Gln194Ter)
|
|
|
NM_000154.2(GALK1):c.585A>G (p.Lys195=)
|
rs1321214794
|
|
NM_000154.2(GALK1):c.594G>A (p.Ala198=)
|
rs755764957
|
|
NM_000154.2(GALK1):c.594G>C (p.Ala198=)
|
rs755764957
|
|
NM_000154.2(GALK1):c.609dup (p.Arg204fs)
|
|
|
NM_000154.2(GALK1):c.611+11C>A
|
|
|
NM_000154.2(GALK1):c.611+15C>A
|
|
|
NM_000154.2(GALK1):c.611+15C>T
|
|
|
NM_000154.2(GALK1):c.611+19G>A
|
|
|
NM_000154.2(GALK1):c.611+19G>T
|
|
|
NM_000154.2(GALK1):c.612-17T>C
|
|
|
NM_000154.2(GALK1):c.612-18A>G
|
|
|
NM_000154.2(GALK1):c.612-1G>A
|
rs1555748556
|
|
NM_000154.2(GALK1):c.612-1G>T
|
|
|
NM_000154.2(GALK1):c.612-20C>G
|
|
|
NM_000154.2(GALK1):c.612-4C>G
|
rs2061593526
|
|
NM_000154.2(GALK1):c.612-6C>T
|
|
|
NM_000154.2(GALK1):c.612-7A>C
|
rs946374109
|
|
NM_000154.2(GALK1):c.612-8C>T
|
rs2143602055
|
|
NM_000154.2(GALK1):c.639C>G (p.Leu213=)
|
|
|
NM_000154.2(GALK1):c.657C>G (p.Ala219=)
|
|
|
NM_000154.2(GALK1):c.658G>A (p.Val220Met)
|
|
|
NM_000154.2(GALK1):c.660G>A (p.Val220=)
|
rs2143601804
|
|
NM_000154.2(GALK1):c.660G>C (p.Val220=)
|
rs2143601804
|
|
NM_000154.2(GALK1):c.663C>T (p.Leu221=)
|
rs2143601784
|
|
NM_000154.2(GALK1):c.678del (p.Asn226fs)
|
rs1568395061
|
|
NM_000154.2(GALK1):c.67G>T (p.Glu23Ter)
|
rs2143608501
|
|
NM_000154.2(GALK1):c.681C>T (p.Val227=)
|
|
|
NM_000154.2(GALK1):c.686dup (p.His229fs)
|
|
|
NM_000154.2(GALK1):c.689_711dup (p.Val238fs)
|
rs1555748534
|
|
NM_000154.2(GALK1):c.691C>T (p.Leu231=)
|
|
|
NM_000154.2(GALK1):c.69G>A (p.Glu23=)
|
|
|
NM_000154.2(GALK1):c.6del (p.Ala3fs)
|
rs2143608720
|
|
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
|
|
|
NM_000154.2(GALK1):c.708C>T (p.Tyr236=)
|
|
|
NM_000154.2(GALK1):c.710del (p.Pro237fs)
|
rs773559496
|
|
NM_000154.2(GALK1):c.714G>A (p.Val238=)
|
|
|
NM_000154.2(GALK1):c.715C>A (p.Arg239=)
|
|
|
NM_000154.2(GALK1):c.719G>A (p.Arg240Gln)
|
|
|
NM_000154.2(GALK1):c.738_739insCTTTCCTT (p.Ala247fs)
|
|
|
NM_000154.2(GALK1):c.741C>T (p.Ala247=)
|
|
|
NM_000154.2(GALK1):c.756G>A (p.Lys252=)
|
|
|
NM_000154.2(GALK1):c.761del (p.Ser254fs)
|
rs1599335144
|
|
NM_000154.2(GALK1):c.768_769dup (p.Glu257fs)
|
rs2143601360
|
|
NM_000154.2(GALK1):c.775C>T (p.Gln259Ter)
|
rs1599335132
|
|
NM_000154.2(GALK1):c.780G>A (p.Leu260=)
|
rs2143601311
|
|
NM_000154.2(GALK1):c.781del (p.Glu261fs)
|
|
|
NM_000154.2(GALK1):c.784G>T (p.Glu262Ter)
|
rs2061592335
|
|
NM_000154.2(GALK1):c.787C>T (p.Leu263=)
|
rs886053420
|
|
NM_000154.2(GALK1):c.78C>A (p.Ala26=)
|
rs111772385
|
|
NM_000154.2(GALK1):c.793+13A>G
|
|
|
NM_000154.2(GALK1):c.793+15G>A
|
|
|
NM_000154.2(GALK1):c.793+19C>T
|
|
|
NM_000154.2(GALK1):c.793+2T>C
|
|
|
NM_000154.2(GALK1):c.793+2T>G
|
|
|
NM_000154.2(GALK1):c.794-12T>C
|
|
|
NM_000154.2(GALK1):c.794-4C>A
|
|
|
NM_000154.2(GALK1):c.794-6C>T
|
rs2143588609
|
|
NM_000154.2(GALK1):c.796G>A (p.Ala266Thr)
|
|
|
NM_000154.2(GALK1):c.799A>C (p.Arg267=)
|
rs2143588547
|
|
NM_000154.2(GALK1):c.79G>T (p.Glu27Ter)
|
rs1555748940
|
|
NM_000154.2(GALK1):c.801G>A (p.Arg267=)
|
|
|
NM_000154.2(GALK1):c.807G>A (p.Leu269=)
|
|
|
NM_000154.2(GALK1):c.807G>C (p.Leu269=)
|
|
|
NM_000154.2(GALK1):c.808_809delinsA (p.Val270fs)
|
|
|
NM_000154.2(GALK1):c.818_819del (p.Glu273fs)
|
|
|
NM_000154.2(GALK1):c.819G>A (p.Glu273=)
|
|
|
NM_000154.2(GALK1):c.81G>A (p.Glu27=)
|
rs2061605081
|
|
NM_000154.2(GALK1):c.822C>T (p.Gly274=)
|
rs2143588442
|
|
NM_000154.2(GALK1):c.826C>T (p.Arg276Trp)
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NM_000154.2(GALK1):c.829C>A (p.Arg277=)
|
rs550012222
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NM_000154.2(GALK1):c.82C>T (p.Pro28Ser)
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rs104894572
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NM_000154.2(GALK1):c.834C>T (p.Ala278=)
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NM_000154.2(GALK1):c.837G>A (p.Arg279=)
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rs1471733833
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NM_000154.2(GALK1):c.837_841dup (p.Val281fs)
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NM_000154.2(GALK1):c.83_84dup (p.Glu29fs)
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NM_000154.2(GALK1):c.843G>C (p.Val281=)
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rs1490873505
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NM_000154.2(GALK1):c.843G>T (p.Val281=)
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|
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NM_000154.2(GALK1):c.846G>A (p.Val282=)
|
rs1289458233
|
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NM_000154.2(GALK1):c.847_860dup (p.Thr288fs)
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NM_000154.2(GALK1):c.849G>A (p.Gly283=)
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NM_000154.2(GALK1):c.84C>T (p.Pro28=)
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NM_000154.2(GALK1):c.853_874del (p.Ile285fs)
|
rs770087254
|
|
NM_000154.2(GALK1):c.859C>T (p.Arg287Cys)
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|
|
NM_000154.2(GALK1):c.860_881del (p.Arg287fs)
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|
|
NM_000154.2(GALK1):c.864G>A (p.Thr288=)
|
rs201247556
|
|
NM_000154.2(GALK1):c.864G>T (p.Thr288=)
|
rs201247556
|
|
NM_000154.2(GALK1):c.866C>T (p.Ala289Val)
|
|
|
NM_000154.2(GALK1):c.867C>A (p.Ala289=)
|
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|
NM_000154.2(GALK1):c.868C>T (p.Gln290Ter)
|
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NM_000154.2(GALK1):c.879C>T (p.Ala293=)
|
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NM_000154.2(GALK1):c.882C>T (p.Ala294=)
|
|
|
NM_000154.2(GALK1):c.900C>T (p.Tyr300=)
|
rs2143587826
|
|
NM_000154.2(GALK1):c.900_902del (p.Tyr300_Arg301delinsTer)
|
|
|
NM_000154.2(GALK1):c.901A>T (p.Arg301Ter)
|
|
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NM_000154.2(GALK1):c.903A>G (p.Arg301=)
|
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|
NM_000154.2(GALK1):c.90G>C (p.Leu30=)
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NM_000154.2(GALK1):c.912C>T (p.Gly304=)
|
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|
NM_000154.2(GALK1):c.918C>T (p.Leu306=)
|
|
|
NM_000154.2(GALK1):c.919A>C (p.Met307Leu)
|
rs2061566977
|
|
NM_000154.2(GALK1):c.930C>T (p.Ser310=)
|
rs767539734
|
|
NM_000154.2(GALK1):c.939A>T (p.Ser313=)
|
rs2143587541
|
|
NM_000154.2(GALK1):c.93C>T (p.Ala31=)
|
rs1165544582
|
|
NM_000154.2(GALK1):c.942C>T (p.Leu314=)
|
rs2143587515
|
|
NM_000154.2(GALK1):c.944+16C>T
|
|
|
NM_000154.2(GALK1):c.944+17G>A
|
|
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NM_000154.2(GALK1):c.944+1G>T
|
rs113464656
|
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NM_000154.2(GALK1):c.944+20C>G
|
|
|
NM_000154.2(GALK1):c.945-14T>C
|
|
|
NM_000154.2(GALK1):c.945-20C>A
|
|
|
NM_000154.2(GALK1):c.945-36_992del
|
rs2143586633
|
|
NM_000154.2(GALK1):c.945-4G>A
|
rs2143586908
|
|
NM_000154.2(GALK1):c.949G>A (p.Asp317Asn)
|
|
|
NM_000154.2(GALK1):c.953_954del (p.Asp317_Tyr318insTer)
|
|
|
NM_000154.2(GALK1):c.954T>A (p.Tyr318Ter)
|
|
|
NM_000154.2(GALK1):c.975G>T (p.Leu325=)
|
rs1247403138
|
|
NM_000154.2(GALK1):c.98C>G (p.Ser33Ter)
|
|
|
NM_000154.2(GALK1):c.990G>A (p.Glu330=)
|
rs2143586648
|
|
NM_000154.2(GALK1):c.998T>G (p.Leu333Arg)
|
rs2061565422
|
|