NM_022166.4(XYLT1):c.2675G>A (p.Arg892Gln)
|
rs35309694
|
0.09774
|
NM_022166.4(XYLT1):c.2655C>T (p.Pro885=)
|
rs924260
|
0.07855
|
NM_022166.4(XYLT1):c.2515G>A (p.Val839Ile)
|
rs7200466
|
0.06145
|
NM_022166.4(XYLT1):c.2224-12C>T
|
rs12325442
|
0.06125
|
NM_022166.4(XYLT1):c.668C>G (p.Ala223Gly)
|
rs113276942
|
0.04995
|
NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser)
|
rs61758388
|
0.01927
|
NM_022166.4(XYLT1):c.1077C>T (p.His359=)
|
rs35488326
|
0.01851
|
NM_022166.4(XYLT1):c.913+9C>T
|
rs79173410
|
0.01688
|
NM_022166.4(XYLT1):c.606A>G (p.Lys202=)
|
rs114030556
|
0.00708
|
NM_022166.4(XYLT1):c.2370C>A (p.Val790=)
|
rs74750647
|
0.00372
|
NM_022166.4(XYLT1):c.2226C>T (p.Val742=)
|
rs139693964
|
0.00304
|
NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu)
|
rs36098987
|
0.00293
|
NM_022166.4(XYLT1):c.363+18C>G
|
rs367589791
|
0.00225
|
NM_022166.4(XYLT1):c.2028-15C>T
|
rs150179077
|
0.00203
|
NM_022166.4(XYLT1):c.59C>T (p.Ala20Val)
|
rs568899945
|
0.00191
|
NM_022166.4(XYLT1):c.307G>A (p.Gly103Arg)
|
rs370511358
|
0.00139
|
NM_022166.4(XYLT1):c.154G>A (p.Gly52Ser)
|
rs766521030
|
0.00093
|
NM_022166.4(XYLT1):c.402+6T>C
|
rs184623992
|
0.00092
|
NM_022166.4(XYLT1):c.57C>T (p.Leu19=)
|
rs539729561
|
0.00083
|
NM_022166.4(XYLT1):c.2007G>A (p.Thr669=)
|
rs150492983
|
0.00067
|
NM_022166.4(XYLT1):c.1299C>A (p.Asp433Glu)
|
rs147074504
|
0.00057
|
NM_022166.4(XYLT1):c.2296C>G (p.Pro766Ala)
|
rs12325439
|
0.00051
|
NM_022166.4(XYLT1):c.2502G>C (p.Glu834Asp)
|
rs145244421
|
0.00051
|
NM_022166.4(XYLT1):c.188C>G (p.Pro63Arg)
|
rs1028782929
|
0.00047
|
NM_022166.4(XYLT1):c.2338G>A (p.Val780Met)
|
rs181524912
|
0.00044
|
NM_022166.4(XYLT1):c.1272G>A (p.Ala424=)
|
rs144531370
|
0.00031
|
NM_022166.4(XYLT1):c.2555C>G (p.Pro852Arg)
|
rs147284278
|
0.00030
|
NM_022166.4(XYLT1):c.2557+16G>T
|
rs201594594
|
0.00029
|
NM_022166.4(XYLT1):c.2694G>A (p.Thr898=)
|
rs141353269
|
0.00026
|
NM_022166.4(XYLT1):c.657C>T (p.Pro219=)
|
rs146043560
|
0.00026
|
NM_022166.4(XYLT1):c.2358T>C (p.Asp786=)
|
rs145615486
|
0.00024
|
NM_022166.4(XYLT1):c.1358G>A (p.Arg453Gln)
|
rs141079587
|
0.00023
|
NM_022166.4(XYLT1):c.694G>C (p.Asp232His)
|
rs150214300
|
0.00021
|
NM_022166.4(XYLT1):c.1227G>A (p.Leu409=)
|
rs142693909
|
0.00019
|
NM_022166.4(XYLT1):c.2656G>T (p.Ala886Ser)
|
rs143481827
|
0.00019
|
NM_022166.4(XYLT1):c.951C>T (p.Ser317=)
|
rs145318002
|
0.00017
|
NM_022166.4(XYLT1):c.1087-18T>C
|
rs377281740
|
0.00016
|
NM_022166.4(XYLT1):c.1413C>T (p.Cys471=)
|
rs372067770
|
0.00016
|
NM_022166.4(XYLT1):c.246A>C (p.Gly82=)
|
rs1324469444
|
0.00016
|
NM_022166.4(XYLT1):c.1252T>A (p.Phe418Ile)
|
rs574064641
|
0.00013
|
NM_022166.4(XYLT1):c.2081G>A (p.Arg694His)
|
rs201045664
|
0.00013
|
NM_022166.4(XYLT1):c.1311G>A (p.Ala437=)
|
rs201354548
|
0.00012
|
NM_022166.4(XYLT1):c.1044C>T (p.Ala348=)
|
rs372015293
|
0.00011
|
NM_022166.4(XYLT1):c.974C>T (p.Pro325Leu)
|
rs139070566
|
0.00011
|
NM_022166.4(XYLT1):c.1289+13A>G
|
rs759329282
|
0.00010
|
NM_022166.4(XYLT1):c.173C>T (p.Pro58Leu)
|
rs984714850
|
0.00010
|
NM_022166.4(XYLT1):c.2561A>C (p.Glu854Ala)
|
rs199588257
|
0.00010
|
NM_022166.4(XYLT1):c.364-6C>T
|
rs374328092
|
0.00010
|
NM_022166.4(XYLT1):c.731G>C (p.Gly244Ala)
|
rs199643996
|
0.00010
|
NM_022166.4(XYLT1):c.2224-9_2224-8del
|
rs765782913
|
0.00009
|
NM_022166.4(XYLT1):c.258A>C (p.Gly86=)
|
rs1354379384
|
0.00009
|
NM_022166.4(XYLT1):c.287G>C (p.Arg96Pro)
|
rs1037051580
|
0.00009
|
NM_022166.4(XYLT1):c.41C>T (p.Ser14Leu)
|
rs558470371
|
0.00009
|
NM_022166.4(XYLT1):c.2344G>A (p.Val782Ile)
|
rs778581218
|
0.00008
|
NM_022166.4(XYLT1):c.126C>T (p.Ala42=)
|
rs1359623297
|
0.00007
|
NM_022166.4(XYLT1):c.139G>C (p.Gly47Arg)
|
rs760732431
|
0.00007
|
NM_022166.4(XYLT1):c.2430C>T (p.Pro810=)
|
rs550125219
|
0.00007
|
NM_022166.4(XYLT1):c.2784G>A (p.Pro928=)
|
rs150334363
|
0.00007
|
NM_022166.4(XYLT1):c.707C>T (p.Pro236Leu)
|
rs140976278
|
0.00007
|
NM_022166.4(XYLT1):c.1032C>T (p.Arg344=)
|
rs753990263
|
0.00006
|
NM_022166.4(XYLT1):c.2442G>T (p.Leu814Phe)
|
rs199727985
|
0.00006
|
NM_022166.4(XYLT1):c.2520G>A (p.Ala840=)
|
rs374874388
|
0.00006
|
NM_022166.4(XYLT1):c.2809G>A (p.Ala937Thr)
|
rs780303292
|
0.00006
|
NM_022166.4(XYLT1):c.358G>A (p.Ala120Thr)
|
rs769122570
|
0.00006
|
NM_022166.4(XYLT1):c.1216C>T (p.Arg406Trp)
|
rs201009902
|
0.00005
|
NM_022166.4(XYLT1):c.2870G>A (p.Arg957Gln)
|
rs765703210
|
0.00005
|
NM_022166.4(XYLT1):c.2504C>T (p.Thr835Ile)
|
rs372741635
|
0.00004
|
NM_022166.4(XYLT1):c.711T>A (p.Pro237=)
|
rs148118242
|
0.00004
|
NM_022166.4(XYLT1):c.735C>T (p.Ser245=)
|
rs143634894
|
0.00004
|
NM_022166.4(XYLT1):c.811G>A (p.Ala271Thr)
|
rs183356442
|
0.00004
|
NM_022166.4(XYLT1):c.930C>T (p.Asn310=)
|
rs372400180
|
0.00004
|
NM_022166.4(XYLT1):c.1211G>A (p.Ser404Asn)
|
rs146025263
|
0.00003
|
NM_022166.4(XYLT1):c.1370+5C>T
|
rs372104324
|
0.00003
|
NM_022166.4(XYLT1):c.1533C>T (p.Asp511=)
|
rs760198193
|
0.00003
|
NM_022166.4(XYLT1):c.2004C>T (p.His668=)
|
rs568660663
|
0.00003
|
NM_022166.4(XYLT1):c.2028-14G>A
|
rs762165484
|
0.00003
|
NM_022166.4(XYLT1):c.2163G>A (p.Pro721=)
|
rs759198989
|
0.00003
|
NM_022166.4(XYLT1):c.2298G>A (p.Pro766=)
|
rs146457574
|
0.00003
|
NM_022166.4(XYLT1):c.262G>A (p.Gly88Arg)
|
rs1251643007
|
0.00003
|
NM_022166.4(XYLT1):c.264A>T (p.Gly88=)
|
rs1056637053
|
0.00003
|
NM_022166.4(XYLT1):c.2693C>T (p.Thr898Met)
|
rs368097793
|
0.00003
|
NM_022166.4(XYLT1):c.2783C>T (p.Pro928Leu)
|
rs909102121
|
0.00003
|
NM_022166.4(XYLT1):c.2807C>T (p.Thr936Met)
|
rs768752782
|
0.00003
|
NM_022166.4(XYLT1):c.670G>A (p.Ala224Thr)
|
rs534156689
|
0.00003
|
NM_022166.4(XYLT1):c.1140T>C (p.Asn380=)
|
rs1041058225
|
0.00002
|
NM_022166.4(XYLT1):c.1217G>A (p.Arg406Gln)
|
rs1457612277
|
0.00002
|
NM_022166.4(XYLT1):c.1237G>A (p.Asp413Asn)
|
rs774302454
|
0.00002
|
NM_022166.4(XYLT1):c.1259T>C (p.Ile420Thr)
|
rs747349926
|
0.00002
|
NM_022166.4(XYLT1):c.1445G>A (p.Arg482Gln)
|
rs571451998
|
0.00002
|
NM_022166.4(XYLT1):c.179C>T (p.Ala60Val)
|
rs1294077633
|
0.00002
|
NM_022166.4(XYLT1):c.2117A>G (p.Asn706Ser)
|
rs779078093
|
0.00002
|
NM_022166.4(XYLT1):c.2223+10C>T
|
rs750355184
|
0.00002
|
NM_022166.4(XYLT1):c.2378C>T (p.Ala793Val)
|
rs369216955
|
0.00002
|
NM_022166.4(XYLT1):c.2669A>G (p.Gln890Arg)
|
rs1321384222
|
0.00002
|
NM_022166.4(XYLT1):c.2690C>T (p.Ser897Phe)
|
rs776112557
|
0.00002
|
NM_022166.4(XYLT1):c.389C>T (p.Thr130Ile)
|
rs374229842
|
0.00002
|
NM_022166.4(XYLT1):c.708G>A (p.Pro236=)
|
rs570061438
|
0.00002
|
NM_022166.4(XYLT1):c.93C>T (p.Val31=)
|
rs1347219754
|
0.00002
|
NM_022166.4(XYLT1):c.1006G>A (p.Gly336Ser)
|
rs748903122
|
0.00001
|
NM_022166.4(XYLT1):c.1086+4A>G
|
rs368086323
|
0.00001
|
NM_022166.4(XYLT1):c.1088G>A (p.Arg363His)
|
rs750025305
|
0.00001
|
NM_022166.4(XYLT1):c.1129C>G (p.Gln377Glu)
|
rs530487081
|
0.00001
|
NM_022166.4(XYLT1):c.1191C>G (p.Leu397=)
|
rs372491262
|
0.00001
|
NM_022166.4(XYLT1):c.1225C>T (p.Leu409=)
|
rs1236568384
|
0.00001
|
NM_022166.4(XYLT1):c.1229A>T (p.Glu410Val)
|
rs759418934
|
0.00001
|
NM_022166.4(XYLT1):c.1276G>A (p.Asp426Asn)
|
rs1193112792
|
0.00001
|
NM_022166.4(XYLT1):c.1290-6C>T
|
rs1019625581
|
0.00001
|
NM_022166.4(XYLT1):c.1310C>T (p.Ala437Val)
|
rs192917273
|
0.00001
|
NM_022166.4(XYLT1):c.1321C>T (p.Arg441Ter)
|
rs1164720535
|
0.00001
|
NM_022166.4(XYLT1):c.1353C>T (p.His451=)
|
rs200531572
|
0.00001
|
NM_022166.4(XYLT1):c.1371-5C>T
|
rs779582063
|
0.00001
|
NM_022166.4(XYLT1):c.1474G>A (p.Gly492Ser)
|
rs1395692976
|
0.00001
|
NM_022166.4(XYLT1):c.1479G>A (p.Ser493=)
|
rs758599112
|
0.00001
|
NM_022166.4(XYLT1):c.153C>T (p.Val51=)
|
rs1359545259
|
0.00001
|
NM_022166.4(XYLT1):c.1547A>G (p.Lys516Arg)
|
rs200026293
|
0.00001
|
NM_022166.4(XYLT1):c.182C>G (p.Pro61Arg)
|
rs953238937
|
0.00001
|
NM_022166.4(XYLT1):c.18C>G (p.Cys6Trp)
|
rs1028730751
|
0.00001
|
NM_022166.4(XYLT1):c.2088G>T (p.Gln696His)
|
rs1459705274
|
0.00001
|
NM_022166.4(XYLT1):c.2129G>A (p.Ser710Asn)
|
rs1174079303
|
0.00001
|
NM_022166.4(XYLT1):c.213C>T (p.Pro71=)
|
rs999574381
|
0.00001
|
NM_022166.4(XYLT1):c.2223+6A>C
|
rs757535848
|
0.00001
|
NM_022166.4(XYLT1):c.2224-7G>C
|
rs2029906214
|
0.00001
|
NM_022166.4(XYLT1):c.2260C>T (p.Arg754Cys)
|
rs374020411
|
0.00001
|
NM_022166.4(XYLT1):c.2337C>A (p.Thr779=)
|
rs779548774
|
0.00001
|
NM_022166.4(XYLT1):c.2465C>G (p.Thr822Arg)
|
rs781285104
|
0.00001
|
NM_022166.4(XYLT1):c.2467G>A (p.Val823Met)
|
rs767395762
|
0.00001
|
NM_022166.4(XYLT1):c.2619G>C (p.Gln873His)
|
rs1378456649
|
0.00001
|
NM_022166.4(XYLT1):c.2665G>C (p.Glu889Gln)
|
rs752844900
|
0.00001
|
NM_022166.4(XYLT1):c.2766G>C (p.Thr922=)
|
rs371058087
|
0.00001
|
NM_022166.4(XYLT1):c.2806A>T (p.Thr936Ser)
|
rs1348422483
|
0.00001
|
NM_022166.4(XYLT1):c.2865T>C (p.Asp955=)
|
rs1444261356
|
0.00001
|
NM_022166.4(XYLT1):c.353C>T (p.Ala118Val)
|
rs1229787594
|
0.00001
|
NM_022166.4(XYLT1):c.359C>T (p.Ala120Val)
|
rs1187139126
|
0.00001
|
NM_022166.4(XYLT1):c.402+15T>C
|
rs937484990
|
0.00001
|
NM_022166.4(XYLT1):c.47C>T (p.Ser16Leu)
|
rs1052524950
|
0.00001
|
NM_022166.4(XYLT1):c.617A>G (p.His206Arg)
|
rs1422772803
|
0.00001
|
NM_022166.4(XYLT1):c.624C>T (p.Phe208=)
|
rs372923585
|
0.00001
|
NM_022166.4(XYLT1):c.689G>A (p.Gly230Glu)
|
rs746038429
|
0.00001
|
NM_022166.4(XYLT1):c.72G>C (p.Val24=)
|
rs753722258
|
0.00001
|
NM_022166.4(XYLT1):c.746C>A (p.Thr249Asn)
|
rs761858019
|
0.00001
|
NM_022166.4(XYLT1):c.750G>A (p.Lys250=)
|
rs767664625
|
0.00001
|
NM_022166.4(XYLT1):c.807C>T (p.Ser269=)
|
rs779671035
|
0.00001
|
NM_022166.4(XYLT1):c.848C>G (p.Thr283Ser)
|
rs763286849
|
0.00001
|
NM_022166.4(XYLT1):c.88C>G (p.Leu30Val)
|
rs948173236
|
0.00001
|
NM_022166.4(XYLT1):c.914-18C>A
|
rs149428198
|
0.00001
|
NM_022166.4(XYLT1):c.94G>A (p.Val32Met)
|
rs1301420949
|
0.00001
|
NM_022166.4(XYLT1):c.984C>T (p.Ile328=)
|
rs776003531
|
0.00001
|
NC_000016.9:g.(?_17202552)_(17451927_?)dup
|
|
|
NC_000016.9:g.(?_17451859)_(17451917_?)del
|
|
|
NC_000016.9:g.(?_17564281)_(17564653_?)del
|
|
|
NM_022166.4(XYLT1):c.-110_280del (p.Met1_Gln94del)
|
|
|
NM_022166.4(XYLT1):c.1008C>T (p.Gly336=)
|
|
|
NM_022166.4(XYLT1):c.1011T>A (p.Arg337=)
|
|
|
NM_022166.4(XYLT1):c.1028A>G (p.Gln343Arg)
|
|
|
NM_022166.4(XYLT1):c.1033A>C (p.Met345Leu)
|
|
|
NM_022166.4(XYLT1):c.1074C>A (p.Ile358=)
|
|
|
NM_022166.4(XYLT1):c.1086+9C>G
|
|
|
NM_022166.4(XYLT1):c.1087-14_1087-11del
|
rs1449577336
|
|
NM_022166.4(XYLT1):c.1100T>A (p.Leu367Gln)
|
|
|
NM_022166.4(XYLT1):c.1145G>A (p.Arg382His)
|
|
|
NM_022166.4(XYLT1):c.114C>G (p.Leu38=)
|
rs1367326593
|
|
NM_022166.4(XYLT1):c.1218G>A (p.Arg406=)
|
|
|
NM_022166.4(XYLT1):c.121G>C (p.Gly41Arg)
|
|
|
NM_022166.4(XYLT1):c.1221C>T (p.Asp407=)
|
|
|
NM_022166.4(XYLT1):c.1224C>T (p.Leu408=)
|
|
|
NM_022166.4(XYLT1):c.1236C>T (p.Thr412=)
|
|
|
NM_022166.4(XYLT1):c.1271C>T (p.Ala424Val)
|
|
|
NM_022166.4(XYLT1):c.1272G>T (p.Ala424=)
|
|
|
NM_022166.4(XYLT1):c.1275C>T (p.Ala425=)
|
|
|
NM_022166.4(XYLT1):c.1284C>A (p.Pro428=)
|
|
|
NM_022166.4(XYLT1):c.1284C>G (p.Pro428=)
|
rs28709752
|
|
NM_022166.4(XYLT1):c.130G>A (p.Glu44Lys)
|
rs2141970457
|
|
NM_022166.4(XYLT1):c.1322G>A (p.Arg441Gln)
|
|
|
NM_022166.4(XYLT1):c.1371-15C>G
|
|
|
NM_022166.4(XYLT1):c.1371-8C>T
|
|
|
NM_022166.4(XYLT1):c.1416C>G (p.Asp472Glu)
|
rs371420301
|
|
NM_022166.4(XYLT1):c.1416C>T (p.Asp472=)
|
rs371420301
|
|
NM_022166.4(XYLT1):c.1429C>T (p.Arg477Cys)
|
rs1180844430
|
|
NM_022166.4(XYLT1):c.143G>T (p.Gly48Val)
|
|
|
NM_022166.4(XYLT1):c.1464C>T (p.Ala488=)
|
|
|
NM_022166.4(XYLT1):c.1478C>T (p.Ser493Leu)
|
|
|
NM_022166.4(XYLT1):c.1510G>T (p.Glu504Ter)
|
|
|
NM_022166.4(XYLT1):c.1518G>A (p.Val506=)
|
rs1256776514
|
|
NM_022166.4(XYLT1):c.1520C>A (p.Thr507Asn)
|
rs1290402731
|
|
NM_022166.4(XYLT1):c.152T>C (p.Val51Ala)
|
rs865812042
|
|
NM_022166.4(XYLT1):c.1530A>G (p.Thr510=)
|
|
|
NM_022166.4(XYLT1):c.1534G>T (p.Asp512Tyr)
|
rs561119865
|
|
NM_022166.4(XYLT1):c.1587+8T>A
|
|
|
NM_022166.4(XYLT1):c.15G>T (p.Pro5=)
|
|
|
NM_022166.4(XYLT1):c.161G>A (p.Gly54Glu)
|
rs2036977208
|
|
NM_022166.4(XYLT1):c.176C>A (p.Pro59Gln)
|
|
|
NM_022166.4(XYLT1):c.178G>A (p.Ala60Thr)
|
|
|
NM_022166.4(XYLT1):c.178GCCCCG[3] (p.60AP[3])
|
rs965735566
|
|
NM_022166.4(XYLT1):c.183G>A (p.Pro61=)
|
|
|
NM_022166.4(XYLT1):c.195G>C (p.Arg65=)
|
|
|
NM_022166.4(XYLT1):c.197A>T (p.Glu66Val)
|
|
|
NM_022166.4(XYLT1):c.200_208dup (p.Arg67_Asp69dup)
|
rs2036975094
|
|
NM_022166.4(XYLT1):c.2026C>T (p.Arg676Ter)
|
|
|
NM_022166.4(XYLT1):c.2027+20C>T
|
|
|
NM_022166.4(XYLT1):c.2027G>A (p.Arg676Gln)
|
|
|
NM_022166.4(XYLT1):c.2028-16G>C
|
|
|
NM_022166.4(XYLT1):c.2028-16dup
|
|
|
NM_022166.4(XYLT1):c.2038A>G (p.Met680Val)
|
|
|
NM_022166.4(XYLT1):c.2047C>A (p.Pro683Thr)
|
|
|
NM_022166.4(XYLT1):c.2050G>A (p.Ala684Thr)
|
|
|
NM_022166.4(XYLT1):c.2069T>C (p.Phe690Ser)
|
rs2141496310
|
|
NM_022166.4(XYLT1):c.2071C>G (p.Leu691Val)
|
|
|
NM_022166.4(XYLT1):c.2080C>T (p.Arg694Cys)
|
|
|
NM_022166.4(XYLT1):c.2098A>G (p.Ile700Val)
|
|
|
NM_022166.4(XYLT1):c.2105A>T (p.His702Leu)
|
|
|
NM_022166.4(XYLT1):c.2127G>C (p.Val709=)
|
rs1597137187
|
|
NM_022166.4(XYLT1):c.2145G>A (p.Leu715=)
|
|
|
NM_022166.4(XYLT1):c.2159T>C (p.Met720Thr)
|
|
|
NM_022166.4(XYLT1):c.2162C>A (p.Pro721Gln)
|
rs767151460
|
|
NM_022166.4(XYLT1):c.2169A>T (p.Lys723Asn)
|
|
|
NM_022166.4(XYLT1):c.2181C>T (p.Ile727=)
|
|
|
NM_022166.4(XYLT1):c.2192C>G (p.Pro731Arg)
|
|
|
NM_022166.4(XYLT1):c.2209C>A (p.Leu737Ile)
|
rs1388039038
|
|
NM_022166.4(XYLT1):c.2220C>T (p.Ser740=)
|
|
|
NM_022166.4(XYLT1):c.2223+11A>G
|
|
|
NM_022166.4(XYLT1):c.2223+12G>C
|
|
|
NM_022166.4(XYLT1):c.2223+17T>A
|
|
|
NM_022166.4(XYLT1):c.2224-4T>A
|
rs749488472
|
|
NM_022166.4(XYLT1):c.2224-4T>C
|
|
|
NM_022166.4(XYLT1):c.2272G>C (p.Gly758Arg)
|
|
|
NM_022166.4(XYLT1):c.228A>G (p.Ala76=)
|
rs904119368
|
|
NM_022166.4(XYLT1):c.228A>T (p.Ala76=)
|
|
|
NM_022166.4(XYLT1):c.22C>G (p.Arg8Gly)
|
|
|
NM_022166.4(XYLT1):c.2306T>C (p.Met769Thr)
|
rs2029899993
|
|
NM_022166.4(XYLT1):c.2319G>A (p.Gly773=)
|
|
|
NM_022166.4(XYLT1):c.2322G>A (p.Lys774=)
|
|
|
NM_022166.4(XYLT1):c.2331T>C (p.Asn777=)
|
rs7201590
|
|
NM_022166.4(XYLT1):c.2337C>T (p.Thr779=)
|
|
|
NM_022166.4(XYLT1):c.234AGG[6] (p.Gly90dup)
|
rs559215248
|
|
NM_022166.4(XYLT1):c.2385C>T (p.Tyr795=)
|
|
|
NM_022166.4(XYLT1):c.2409C>T (p.Ala803=)
|
|
|
NM_022166.4(XYLT1):c.2417C>A (p.Thr806Lys)
|
rs1338243795
|
|
NM_022166.4(XYLT1):c.2418A>G (p.Thr806=)
|
|
|
NM_022166.4(XYLT1):c.2421C>T (p.His807=)
|
|
|
NM_022166.4(XYLT1):c.2424C>T (p.Tyr808=)
|
|
|
NM_022166.4(XYLT1):c.2425A>G (p.Lys809Glu)
|
|
|
NM_022166.4(XYLT1):c.2457G>T (p.Gly819=)
|
rs2141484223
|
|
NM_022166.4(XYLT1):c.2462G>A (p.Trp821Ter)
|
|
|
NM_022166.4(XYLT1):c.2466A>G (p.Thr822=)
|
rs2141484206
|
|
NM_022166.4(XYLT1):c.2481C>T (p.His827=)
|
|
|
NM_022166.4(XYLT1):c.249_269del (p.Gly84_Gly90del)
|
|
|
NM_022166.4(XYLT1):c.2519C>A (p.Ala840Glu)
|
|
|
NM_022166.4(XYLT1):c.2535G>C (p.Ser845=)
|
rs746392043
|
|
NM_022166.4(XYLT1):c.2545C>T (p.Pro849Ser)
|
|
|
NM_022166.4(XYLT1):c.2549T>C (p.Ile850Thr)
|
|
|
NM_022166.4(XYLT1):c.2557+20A>G
|
|
|
NM_022166.4(XYLT1):c.2557+8C>A
|
|
|
NM_022166.4(XYLT1):c.2557G>C (p.Glu853Gln)
|
rs200659049
|
|
NM_022166.4(XYLT1):c.2558-18G>A
|
rs564847916
|
|
NM_022166.4(XYLT1):c.2558-6T>C
|
|
|
NM_022166.4(XYLT1):c.255C>A (p.Gly85=)
|
rs1414998054
|
|
NM_022166.4(XYLT1):c.2560G>A (p.Glu854Lys)
|
rs769391314
|
|
NM_022166.4(XYLT1):c.2566C>A (p.Leu856Met)
|
|
|
NM_022166.4(XYLT1):c.2566C>T (p.Leu856=)
|
|
|
NM_022166.4(XYLT1):c.256GGA[7] (p.Gly89_Gly90dup)
|
rs748140156
|
|
NM_022166.4(XYLT1):c.2607G>A (p.Glu869=)
|
|
|
NM_022166.4(XYLT1):c.2631C>T (p.Pro877=)
|
rs34511974
|
|
NM_022166.4(XYLT1):c.2632G>A (p.Val878Ile)
|
|
|
NM_022166.4(XYLT1):c.2639G>C (p.Ser880Thr)
|
|
|
NM_022166.4(XYLT1):c.2640C>T (p.Ser880=)
|
|
|
NM_022166.4(XYLT1):c.2674C>T (p.Arg892Trp)
|
|
|
NM_022166.4(XYLT1):c.2682C>T (p.Asn894=)
|
|
|
NM_022166.4(XYLT1):c.2703G>A (p.Ala901=)
|
|
|
NM_022166.4(XYLT1):c.2725_2727del (p.Leu909del)
|
|
|
NM_022166.4(XYLT1):c.2733C>A (p.Gly911=)
|
|
|
NM_022166.4(XYLT1):c.2739G>A (p.Met913Ile)
|
|
|
NM_022166.4(XYLT1):c.2766G>A (p.Thr922=)
|
rs371058087
|
|
NM_022166.4(XYLT1):c.2768G>A (p.Gly923Asp)
|
|
|
NM_022166.4(XYLT1):c.279_284del (p.Gln94_Ala95del)
|
rs1210050000
|
|
NM_022166.4(XYLT1):c.2808G>A (p.Thr936=)
|
|
|
NM_022166.4(XYLT1):c.2827C>T (p.Pro943Ser)
|
|
|
NM_022166.4(XYLT1):c.282G>A (p.Gln94=)
|
|
|
NM_022166.4(XYLT1):c.2856C>T (p.Val952=)
|
|
|
NM_022166.4(XYLT1):c.2869C>T (p.Arg957Trp)
|
|
|
NM_022166.4(XYLT1):c.2878T>C (p.Ter960Gln)
|
|
|
NM_022166.4(XYLT1):c.28C>T (p.Leu10=)
|
|
|
NM_022166.4(XYLT1):c.293G>T (p.Arg98Leu)
|
rs1800826564
|
|
NM_022166.4(XYLT1):c.306C>T (p.Pro102=)
|
rs763158776
|
|
NM_022166.4(XYLT1):c.317G>A (p.Arg106Gln)
|
rs1438453537
|
|
NM_022166.4(XYLT1):c.317G>C (p.Arg106Pro)
|
rs1438453537
|
|
NM_022166.4(XYLT1):c.337C>T (p.Arg113Trp)
|
rs2036970942
|
|
NM_022166.4(XYLT1):c.346C>G (p.Leu116Val)
|
rs2036970723
|
|
NM_022166.4(XYLT1):c.351C>T (p.Pro117=)
|
|
|
NM_022166.4(XYLT1):c.357G>A (p.Arg119=)
|
rs777120741
|
|
NM_022166.4(XYLT1):c.364-9A>G
|
|
|
NM_022166.4(XYLT1):c.366T>C (p.Asp122=)
|
|
|
NM_022166.4(XYLT1):c.402+18C>G
|
rs111904908
|
|
NM_022166.4(XYLT1):c.402+18C>T
|
rs111904908
|
|
NM_022166.4(XYLT1):c.45C>G (p.His15Gln)
|
|
|
NM_022166.4(XYLT1):c.4G>A (p.Val2Met)
|
rs1567216029
|
|
NM_022166.4(XYLT1):c.60G>C (p.Ala20=)
|
|
|
NM_022166.4(XYLT1):c.615A>G (p.Gly205=)
|
rs762851973
|
|
NM_022166.4(XYLT1):c.630G>A (p.Gly210=)
|
|
|
NM_022166.4(XYLT1):c.649C>T (p.Leu217=)
|
|
|
NM_022166.4(XYLT1):c.693G>A (p.Lys231=)
|
|
|
NM_022166.4(XYLT1):c.69G>A (p.Thr23=)
|
|
|
NM_022166.4(XYLT1):c.71TGC[5] (p.Leu27_Gln28insLeu)
|
|
|
NM_022166.4(XYLT1):c.742G>A (p.Glu248Lys)
|
rs765052371
|
|
NM_022166.4(XYLT1):c.809G>A (p.Arg270His)
|
|
|
NM_022166.4(XYLT1):c.822G>A (p.Lys274=)
|
|
|
NM_022166.4(XYLT1):c.829C>T (p.Arg277Cys)
|
|
|
NM_022166.4(XYLT1):c.830G>T (p.Arg277Leu)
|
rs751753807
|
|
NM_022166.4(XYLT1):c.863A>G (p.Lys288Arg)
|
|
|
NM_022166.4(XYLT1):c.888G>A (p.Lys296=)
|
|
|
NM_022166.4(XYLT1):c.899T>C (p.Phe300Ser)
|
rs2141757551
|
|
NM_022166.4(XYLT1):c.906C>T (p.Pro302=)
|
|
|
NM_022166.4(XYLT1):c.907C>G (p.Leu303Val)
|
|
|
NM_022166.4(XYLT1):c.913+15C>T
|
|
|
NM_022166.4(XYLT1):c.913+15del
|
rs2141757493
|
|
NM_022166.4(XYLT1):c.913+16G>C
|
rs540575525
|
|
NM_022166.4(XYLT1):c.914-12G>T
|
|
|
NM_022166.4(XYLT1):c.914-16C>G
|
|
|
NM_022166.4(XYLT1):c.914-8T>A
|
rs2141589675
|
|
NM_022166.4(XYLT1):c.914-9T>A
|
rs1244804362
|
|
NM_022166.4(XYLT1):c.923A>C (p.Asn308Thr)
|
rs2141589656
|
|
NM_022166.4(XYLT1):c.927G>A (p.Lys309=)
|
rs1368460695
|
|
NM_022166.4(XYLT1):c.927G>C (p.Lys309Asn)
|
rs1368460695
|
|
NM_022166.4(XYLT1):c.952G>A (p.Val318Met)
|
|
|
NM_022166.4(XYLT1):c.958T>C (p.Tyr320His)
|
|
|
NM_022166.4(XYLT1):c.975G>A (p.Pro325=)
|
|
|
NM_022166.4(XYLT1):c.981A>G (p.Arg327=)
|
|
|
NM_022166.4(XYLT1):c.987C>T (p.Ala329=)
|
rs2032521829
|
|
NM_022166.4(XYLT1):c.9G>A (p.Ala3=)
|
|
|