NM_000343.4(SLC5A1):c.*2257A>G
|
rs5753868
|
0.92649
|
NM_000343.4(SLC5A1):c.*706C>T
|
rs1056444
|
0.58787
|
NM_000343.4(SLC5A1):c.1129+7T>G
|
rs5998233
|
0.47147
|
NM_000343.4(SLC5A1):c.*1804T>C
|
rs17683807
|
0.22133
|
NM_000343.4(SLC5A1):c.*2245C>T
|
rs9621386
|
0.14372
|
NM_000343.4(SLC5A1):c.1845C>G (p.His615Gln)
|
rs33954001
|
0.04760
|
NM_000343.4(SLC5A1):c.1275C>T (p.Ala425=)
|
rs17683448
|
0.04560
|
NM_000343.4(SLC5A1):c.1938C>T (p.Asn646=)
|
rs33954397
|
0.04560
|
NM_000343.4(SLC5A1):c.1231G>A (p.Ala411Thr)
|
rs17683430
|
0.04557
|
NM_000343.4(SLC5A1):c.152A>G (p.Asn51Ser)
|
rs17683011
|
0.04555
|
NM_000343.4(SLC5A1):c.1836A>G (p.Leu612=)
|
rs17683704
|
0.04554
|
NM_000343.4(SLC5A1):c.1899G>A (p.Thr633=)
|
rs33943816
|
0.04197
|
NM_000343.4(SLC5A1):c.*902T>G
|
rs16989883
|
0.02647
|
NM_000343.4(SLC5A1):c.*1508C>A
|
rs8142324
|
0.01304
|
NM_000343.4(SLC5A1):c.*795G>T
|
rs117904039
|
0.01237
|
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=)
|
rs33973317
|
0.01145
|
NM_000343.3(SLC5A1):c.-170C>T
|
rs142248518
|
0.01139
|
NM_000343.4(SLC5A1):c.1666-5T>C
|
rs33968460
|
0.01076
|
NM_000343.4(SLC5A1):c.*2244C>T
|
rs114700055
|
0.01052
|
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=)
|
rs33915456
|
0.00975
|
NM_000343.4(SLC5A1):c.50T>C (p.Val17Ala)
|
rs33951240
|
0.00787
|
NM_000343.4(SLC5A1):c.*1203A>G
|
rs149444431
|
0.00762
|
NM_000343.4(SLC5A1):c.1130-9C>T
|
rs33914280
|
0.00761
|
NM_000343.4(SLC5A1):c.*1432G>T
|
rs28540121
|
0.00663
|
NM_000343.4(SLC5A1):c.*2275C>T
|
rs144145176
|
0.00438
|
NM_000343.4(SLC5A1):c.*703C>T
|
rs576036983
|
0.00305
|
NM_000343.4(SLC5A1):c.*1476A>G
|
rs190638859
|
0.00277
|
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu)
|
rs150117594
|
0.00264
|
NM_000343.4(SLC5A1):c.*1744G>A
|
rs376602365
|
0.00109
|
NM_000343.4(SLC5A1):c.*649G>A
|
rs544819758
|
0.00102
|
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val)
|
rs150288967
|
0.00086
|
NM_000343.4(SLC5A1):c.1846G>A (p.Gly616Ser)
|
rs61733910
|
0.00081
|
NM_000343.3(SLC5A1):c.-60C>T
|
rs200410750
|
0.00056
|
NM_000343.4(SLC5A1):c.1359C>T (p.Phe453=)
|
rs139774349
|
0.00053
|
NM_000343.4(SLC5A1):c.*400C>T
|
rs117362976
|
0.00052
|
NM_000343.3(SLC5A1):c.-120C>T
|
rs886057399
|
0.00031
|
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=)
|
rs142046439
|
0.00027
|
NM_000343.4(SLC5A1):c.*707G>A
|
rs886057409
|
0.00026
|
NM_000343.4(SLC5A1):c.744C>T (p.Asn248=)
|
rs185126699
|
0.00026
|
NM_000343.4(SLC5A1):c.1280+8C>G
|
rs200130719
|
0.00025
|
NM_000343.4(SLC5A1):c.1752T>G (p.Pro584=)
|
rs149362007
|
0.00024
|
NM_000343.4(SLC5A1):c.*2251G>A
|
rs569361272
|
0.00021
|
NM_000343.4(SLC5A1):c.*1312A>G
|
rs768251081
|
0.00019
|
NM_000343.4(SLC5A1):c.*1995T>C
|
rs999440734
|
0.00019
|
NM_000343.4(SLC5A1):c.1066G>A (p.Gly356Ser)
|
rs141412905
|
0.00019
|
NM_000343.4(SLC5A1):c.*1237A>G
|
rs368732312
|
0.00016
|
NM_000343.4(SLC5A1):c.208-8G>A
|
rs199783226
|
0.00016
|
NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys)
|
rs201800716
|
0.00016
|
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=)
|
rs200228396
|
0.00014
|
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=)
|
rs148720069
|
0.00014
|
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr)
|
rs139760182
|
0.00013
|
NM_000343.4(SLC5A1):c.1065C>T (p.Cys355=)
|
rs199702272
|
0.00013
|
NM_000343.4(SLC5A1):c.1763T>C (p.Ile588Thr)
|
rs201862174
|
0.00013
|
NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr)
|
rs147453689
|
0.00012
|
NM_000343.4(SLC5A1):c.312+3G>A
|
rs200776237
|
0.00011
|
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile)
|
rs33918436
|
0.00011
|
NM_000343.4(SLC5A1):c.*1455C>A
|
rs559383534
|
0.00010
|
NM_000343.4(SLC5A1):c.*636A>G
|
rs932433422
|
0.00008
|
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met)
|
rs33975915
|
0.00008
|
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp)
|
rs200626260
|
0.00008
|
NM_000343.4(SLC5A1):c.1370A>G (p.Gln457Arg)
|
rs200401846
|
0.00007
|
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=)
|
rs201895474
|
0.00007
|
NM_000343.4(SLC5A1):c.537A>G (p.Leu179=)
|
rs373939295
|
0.00007
|
NM_000343.4(SLC5A1):c.*1053G>A
|
rs376345201
|
0.00006
|
NM_000343.4(SLC5A1):c.*1559C>T
|
rs372572143
|
0.00006
|
NM_000343.4(SLC5A1):c.1012C>G (p.Leu338Val)
|
rs201216997
|
0.00006
|
NM_000343.4(SLC5A1):c.1618A>G (p.Thr540Ala)
|
rs200105476
|
0.00006
|
NM_000343.4(SLC5A1):c.34G>A (p.Ala12Thr)
|
rs202189110
|
0.00006
|
NM_000343.4(SLC5A1):c.1054G>A (p.Glu352Lys)
|
rs200308405
|
0.00005
|
NM_000343.4(SLC5A1):c.1130-7C>A
|
rs779556793
|
0.00005
|
NM_000343.4(SLC5A1):c.549C>T (p.Leu183=)
|
rs376255565
|
0.00005
|
NM_000343.4(SLC5A1):c.624G>A (p.Thr208=)
|
rs144581584
|
0.00005
|
NM_000343.4(SLC5A1):c.89C>T (p.Ser30Phe)
|
rs201689857
|
0.00005
|
NM_000343.4(SLC5A1):c.928G>A (p.Val310Met)
|
rs200727862
|
0.00005
|
NM_000343.3(SLC5A1):c.-51G>A
|
rs199663392
|
0.00004
|
NM_000343.4(SLC5A1):c.*334G>A
|
rs199902294
|
0.00004
|
NM_000343.4(SLC5A1):c.1126A>G (p.Asn376Asp)
|
rs200834101
|
0.00004
|
NM_000343.4(SLC5A1):c.1693A>G (p.Asn565Asp)
|
rs33948878
|
0.00004
|
NM_000343.4(SLC5A1):c.1918T>C (p.Leu640=)
|
rs201676029
|
0.00004
|
NM_000343.4(SLC5A1):c.461T>C (p.Ile154Thr)
|
rs565272257
|
0.00004
|
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=)
|
rs200849778
|
0.00004
|
NM_000343.4(SLC5A1):c.885+15T>C
|
rs557130106
|
0.00004
|
NM_000343.4(SLC5A1):c.*1842C>T
|
rs1039766018
|
0.00003
|
NM_000343.4(SLC5A1):c.*451A>G
|
rs200434456
|
0.00003
|
NM_000343.4(SLC5A1):c.*771C>T
|
rs550005508
|
0.00003
|
NM_000343.4(SLC5A1):c.1232C>T (p.Ala411Val)
|
rs751571109
|
0.00003
|
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter)
|
rs202166715
|
0.00003
|
NM_000343.4(SLC5A1):c.44G>A (p.Arg15Gln)
|
rs142249046
|
0.00003
|
NM_000343.4(SLC5A1):c.919A>G (p.Met307Val)
|
rs767572551
|
0.00003
|
NM_000343.3(SLC5A1):c.-36G>A
|
rs200961861
|
0.00002
|
NM_000343.4(SLC5A1):c.*2132C>A
|
rs541518106
|
0.00002
|
NM_000343.4(SLC5A1):c.*638T>C
|
rs1049834917
|
0.00002
|
NM_000343.4(SLC5A1):c.1128T>C (p.Asn376=)
|
rs201834537
|
0.00002
|
NM_000343.4(SLC5A1):c.1136G>A (p.Arg379Gln)
|
rs747215838
|
0.00002
|
NM_000343.4(SLC5A1):c.1156A>G (p.Met386Val)
|
rs200964696
|
0.00002
|
NM_000343.4(SLC5A1):c.1267A>G (p.Met423Val)
|
rs773967126
|
0.00002
|
NM_000343.4(SLC5A1):c.1400T>C (p.Ile467Thr)
|
rs199872460
|
0.00002
|
NM_000343.4(SLC5A1):c.1603G>A (p.Ala535Thr)
|
rs759726503
|
0.00002
|
NM_000343.4(SLC5A1):c.1724C>T (p.Ala575Val)
|
rs185883847
|
0.00002
|
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=)
|
rs368853644
|
0.00002
|
NM_000343.4(SLC5A1):c.188G>A (p.Arg63Gln)
|
rs200352654
|
0.00002
|
NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg)
|
rs777391124
|
0.00002
|
NM_000343.4(SLC5A1):c.478-20C>T
|
rs200103091
|
0.00002
|
NM_000343.4(SLC5A1):c.623C>T (p.Thr208Met)
|
rs199872285
|
0.00002
|
NM_000343.4(SLC5A1):c.709A>C (p.Met237Leu)
|
rs766404734
|
0.00002
|
NM_000343.3(SLC5A1):c.-238G>A
|
rs1349973469
|
0.00001
|
NM_000343.4(SLC5A1):c.*1408G>A
|
rs1243897828
|
0.00001
|
NM_000343.4(SLC5A1):c.*1595A>C
|
rs1232699809
|
0.00001
|
NM_000343.4(SLC5A1):c.*1755T>G
|
rs886057413
|
0.00001
|
NM_000343.4(SLC5A1):c.*2201G>A
|
rs1394513769
|
0.00001
|
NM_000343.4(SLC5A1):c.*2694A>G
|
rs1379735549
|
0.00001
|
NM_000343.4(SLC5A1):c.*599C>T
|
rs2094055488
|
0.00001
|
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His)
|
rs774651252
|
0.00001
|
NM_000343.4(SLC5A1):c.1028T>C (p.Ile343Thr)
|
rs774741107
|
0.00001
|
NM_000343.4(SLC5A1):c.1120A>G (p.Met374Val)
|
rs1397555319
|
0.00001
|
NM_000343.4(SLC5A1):c.1127A>G (p.Asn376Ser)
|
rs779179648
|
0.00001
|
NM_000343.4(SLC5A1):c.1149A>G (p.Leu383=)
|
rs781091733
|
0.00001
|
NM_000343.4(SLC5A1):c.1230C>T (p.Tyr410=)
|
rs200206252
|
0.00001
|
NM_000343.4(SLC5A1):c.1245G>A (p.Lys415=)
|
rs200577192
|
0.00001
|
NM_000343.4(SLC5A1):c.1256A>G (p.Glu419Gly)
|
rs1414911182
|
0.00001
|
NM_000343.4(SLC5A1):c.1276G>A (p.Gly426Arg)
|
rs1304151494
|
0.00001
|
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=)
|
rs1229387697
|
0.00001
|
NM_000343.4(SLC5A1):c.135+12G>T
|
rs927895146
|
0.00001
|
NM_000343.4(SLC5A1):c.1360G>A (p.Asp454Asn)
|
rs202145392
|
0.00001
|
NM_000343.4(SLC5A1):c.1434G>A (p.Lys478=)
|
rs374997248
|
0.00001
|
NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys)
|
rs767673239
|
0.00001
|
NM_000343.4(SLC5A1):c.1642A>T (p.Thr548Ser)
|
rs945722283
|
0.00001
|
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His)
|
rs201799893
|
0.00001
|
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=)
|
rs1475148938
|
0.00001
|
NM_000343.4(SLC5A1):c.1740C>T (p.Ile580=)
|
rs200702605
|
0.00001
|
NM_000343.4(SLC5A1):c.1765G>T (p.Glu589Ter)
|
rs199727071
|
0.00001
|
NM_000343.4(SLC5A1):c.1771+9T>C
|
rs995612487
|
0.00001
|
NM_000343.4(SLC5A1):c.182C>T (p.Ala61Val)
|
rs1277952619
|
0.00001
|
NM_000343.4(SLC5A1):c.206C>T (p.Pro69Leu)
|
rs199683554
|
0.00001
|
NM_000343.4(SLC5A1):c.207+19G>A
|
rs201259641
|
0.00001
|
NM_000343.4(SLC5A1):c.207+2dup
|
rs766189236
|
0.00001
|
NM_000343.4(SLC5A1):c.208-13T>A
|
rs200261297
|
0.00001
|
NM_000343.4(SLC5A1):c.30C>T (p.Thr10=)
|
rs750528703
|
0.00001
|
NM_000343.4(SLC5A1):c.325G>T (p.Val109Leu)
|
rs1260871547
|
0.00001
|
NM_000343.4(SLC5A1):c.334C>T (p.Leu112=)
|
rs1424187026
|
0.00001
|
NM_000343.4(SLC5A1):c.373-13G>A
|
rs201398293
|
0.00001
|
NM_000343.4(SLC5A1):c.373-9C>T
|
rs199690019
|
0.00001
|
NM_000343.4(SLC5A1):c.404G>A (p.Arg135Gln)
|
rs373203939
|
0.00001
|
NM_000343.4(SLC5A1):c.43C>T (p.Arg15Trp)
|
rs33915717
|
0.00001
|
NM_000343.4(SLC5A1):c.477G>A (p.Ser159=)
|
rs775435397
|
0.00001
|
NM_000343.4(SLC5A1):c.478-12C>T
|
rs1447609181
|
0.00001
|
NM_000343.4(SLC5A1):c.583+20C>A
|
rs757295052
|
0.00001
|
NM_000343.4(SLC5A1):c.609G>A (p.Thr203=)
|
rs200276021
|
0.00001
|
NM_000343.4(SLC5A1):c.650T>C (p.Ile217Thr)
|
rs1253967489
|
0.00001
|
NM_000343.4(SLC5A1):c.691G>A (p.Ala231Thr)
|
rs202020538
|
0.00001
|
NM_000343.4(SLC5A1):c.738T>C (p.Asp246=)
|
rs1396640058
|
0.00001
|
NM_000343.4(SLC5A1):c.770C>T (p.Thr257Ile)
|
rs777779839
|
0.00001
|
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter)
|
rs779502629
|
0.00001
|
NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly)
|
rs121912669
|
0.00001
|
NM_000343.4(SLC5A1):c.855C>T (p.Ile285=)
|
rs1471239456
|
0.00001
|
NM_000343.4(SLC5A1):c.875G>A (p.Cys292Tyr)
|
rs765502638
|
0.00001
|
NM_000343.4(SLC5A1):c.886-10T>C
|
rs201709042
|
0.00001
|
NM_000343.4(SLC5A1):c.886-15G>A
|
rs2094005569
|
0.00001
|
NM_000343.4(SLC5A1):c.886-5G>C
|
rs763128374
|
0.00001
|
NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp)
|
rs1336341879
|
0.00001
|
NC_000022.10:g.(?_32439269)_(32464607_?)dup
|
|
|
NC_000022.10:g.(?_32439269)_(32506200_?)dup
|
|
|
NC_000022.10:g.(?_32477833)_(32506200_?)dup
|
|
|
NM_000343.3(SLC5A1):c.-23G>A
|
rs886057400
|
|
NM_000343.4(SLC5A1):c.*1251G>T
|
rs886057411
|
|
NM_000343.4(SLC5A1):c.*1346A>G
|
rs886057412
|
|
NM_000343.4(SLC5A1):c.*1522T>G
|
rs2094057473
|
|
NM_000343.4(SLC5A1):c.*155C>T
|
rs886057405
|
|
NM_000343.4(SLC5A1):c.*183G>C
|
rs886057406
|
|
NM_000343.4(SLC5A1):c.*1940G>A
|
rs117112619
|
|
NM_000343.4(SLC5A1):c.*2352A>T
|
rs2094059162
|
|
NM_000343.4(SLC5A1):c.*2411C>G
|
rs2094059315
|
|
NM_000343.4(SLC5A1):c.*2612T>C
|
rs2094059794
|
|
NM_000343.4(SLC5A1):c.*423dup
|
rs140860103
|
|
NM_000343.4(SLC5A1):c.*510G>A
|
rs886057408
|
|
NM_000343.4(SLC5A1):c.*715del
|
rs777276040
|
|
NM_000343.4(SLC5A1):c.-11dup
|
rs541991193
|
|
NM_000343.4(SLC5A1):c.1002C>T (p.Ile334=)
|
|
|
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys)
|
rs768831308
|
|
NM_000343.4(SLC5A1):c.1008C>T (p.Arg336=)
|
|
|
NM_000343.4(SLC5A1):c.1021+15T>G
|
|
|
NM_000343.4(SLC5A1):c.1021+1G>A
|
rs2149492476
|
|
NM_000343.4(SLC5A1):c.1022-7T>C
|
|
|
NM_000343.4(SLC5A1):c.102C>T (p.Ile34=)
|
|
|
NM_000343.4(SLC5A1):c.1030G>T (p.Ala344Ser)
|
rs2149492818
|
|
NM_000343.4(SLC5A1):c.1035T>C (p.Cys345=)
|
|
|
NM_000343.4(SLC5A1):c.1038C>T (p.Val346=)
|
|
|
NM_000343.4(SLC5A1):c.1088A>G (p.Asn363Ser)
|
|
|
NM_000343.4(SLC5A1):c.1089C>T (p.Asn363=)
|
|
|
NM_000343.4(SLC5A1):c.1097A>G (p.Tyr366Cys)
|
rs2149492851
|
|
NM_000343.4(SLC5A1):c.1129+23_1129+26del
|
rs2149492876
|
|
NM_000343.4(SLC5A1):c.1129+6_1129+7delinsTG
|
rs2149492872
|
|
NM_000343.4(SLC5A1):c.1130-10_1130-8del
|
rs770678836
|
|
NM_000343.4(SLC5A1):c.114A>G (p.Val38=)
|
rs2149481673
|
|
NM_000343.4(SLC5A1):c.1171A>C (p.Met391Leu)
|
rs1359279768
|
|
NM_000343.4(SLC5A1):c.1179C>T (p.Ser393=)
|
|
|
NM_000343.4(SLC5A1):c.1182G>A (p.Leu394=)
|
|
|
NM_000343.4(SLC5A1):c.1185C>T (p.Thr395=)
|
|
|
NM_000343.4(SLC5A1):c.1191C>T (p.Ile397=)
|
|
|
NM_000343.4(SLC5A1):c.1202C>T (p.Ala401Val)
|
rs2149494224
|
|
NM_000343.4(SLC5A1):c.1203C>T (p.Ala401=)
|
|
|
NM_000343.4(SLC5A1):c.121G>A (p.Ala41Thr)
|
rs770382788
|
|
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter)
|
rs200206252
|
|
NM_000343.4(SLC5A1):c.1233C>G (p.Ala411=)
|
|
|
NM_000343.4(SLC5A1):c.1236G>A (p.Lys412=)
|
|
|
NM_000343.4(SLC5A1):c.123C>T (p.Ala41=)
|
|
|
NM_000343.4(SLC5A1):c.1241G>A (p.Arg414His)
|
rs199573966
|
|
NM_000343.4(SLC5A1):c.1256A>T (p.Glu419Val)
|
|
|
NM_000343.4(SLC5A1):c.126C>T (p.Val42=)
|
|
|
NM_000343.4(SLC5A1):c.1280+7G>T
|
|
|
NM_000343.4(SLC5A1):c.1281-8_1281-4dup
|
|
|
NM_000343.4(SLC5A1):c.1281G>T (p.Arg427Ser)
|
|
|
NM_000343.4(SLC5A1):c.1315G>A (p.Ala439Thr)
|
|
|
NM_000343.4(SLC5A1):c.1339G>A (p.Ala447Thr)
|
|
|
NM_000343.4(SLC5A1):c.135+10G>A
|
|
|
NM_000343.4(SLC5A1):c.135+14T>G
|
|
|
NM_000343.4(SLC5A1):c.135+16T>G
|
|
|
NM_000343.4(SLC5A1):c.135+9C>T
|
|
|
NM_000343.4(SLC5A1):c.136-17dup
|
rs2093943077
|
|
NM_000343.4(SLC5A1):c.1371G>C (p.Gln457His)
|
rs2149496672
|
|
NM_000343.4(SLC5A1):c.1388T>A (p.Leu463Ter)
|
|
|
NM_000343.4(SLC5A1):c.1390G>A (p.Gly464Arg)
|
rs886057402
|
|
NM_000343.4(SLC5A1):c.1394_1395insT (p.Pro466fs)
|
rs2149496680
|
|
NM_000343.4(SLC5A1):c.1403C>A (p.Ala468Glu)
|
rs200406921
|
|
NM_000343.4(SLC5A1):c.1403C>T (p.Ala468Val)
|
|
|
NM_000343.4(SLC5A1):c.1404G>A (p.Ala468=)
|
rs767459349
|
|
NM_000343.4(SLC5A1):c.1404G>C (p.Ala468=)
|
|
|
NM_000343.4(SLC5A1):c.1427T>G (p.Phe476Cys)
|
rs2094032479
|
|
NM_000343.4(SLC5A1):c.1431G>T (p.Trp477Cys)
|
|
|
NM_000343.4(SLC5A1):c.1449+14G>A
|
|
|
NM_000343.4(SLC5A1):c.1449A>G (p.Pro483=)
|
|
|
NM_000343.4(SLC5A1):c.1450-18C>T
|
|
|
NM_000343.4(SLC5A1):c.1450-5del
|
|
|
NM_000343.4(SLC5A1):c.1450G>A (p.Gly484Arg)
|
rs886057403
|
|
NM_000343.4(SLC5A1):c.1471C>T (p.Leu491=)
|
|
|
NM_000343.4(SLC5A1):c.1496G>A (p.Arg499His)
|
|
|
NM_000343.4(SLC5A1):c.1496G>C (p.Arg499Pro)
|
rs927157864
|
|
NM_000343.4(SLC5A1):c.1506T>C (p.Thr502=)
|
|
|
NM_000343.4(SLC5A1):c.1518T>C (p.Tyr506=)
|
|
|
NM_000343.4(SLC5A1):c.153T>C (p.Asn51=)
|
rs2149483365
|
|
NM_000343.4(SLC5A1):c.1542C>T (p.Pro514=)
|
rs2149497542
|
|
NM_000343.4(SLC5A1):c.1557G>C (p.Thr519=)
|
|
|
NM_000343.4(SLC5A1):c.155G>A (p.Arg52His)
|
rs773674977
|
|
NM_000343.4(SLC5A1):c.1570G>A (p.Val524Met)
|
rs2149497555
|
|
NM_000343.4(SLC5A1):c.1581G>A (p.Leu527=)
|
|
|
NM_000343.4(SLC5A1):c.158G>A (p.Gly53Glu)
|
rs1334755356
|
|
NM_000343.4(SLC5A1):c.1605C>A (p.Ala535=)
|
rs1185265550
|
|
NM_000343.4(SLC5A1):c.1623C>T (p.Ile541=)
|
|
|
NM_000343.4(SLC5A1):c.1628T>G (p.Val543Gly)
|
|
|
NM_000343.4(SLC5A1):c.162T>C (p.Thr54=)
|
|
|
NM_000343.4(SLC5A1):c.164T>C (p.Val55Ala)
|
rs2093943146
|
|
NM_000343.4(SLC5A1):c.1656G>A (p.Pro552=)
|
|
|
NM_000343.4(SLC5A1):c.1665+19G>C
|
|
|
NM_000343.4(SLC5A1):c.1666-10T>C
|
|
|
NM_000343.4(SLC5A1):c.1666-13G>A
|
|
|
NM_000343.4(SLC5A1):c.1666-20C>G
|
|
|
NM_000343.4(SLC5A1):c.1666-2del
|
|
|
NM_000343.4(SLC5A1):c.1672C>T (p.Arg558Cys)
|
|
|
NM_000343.4(SLC5A1):c.1674T>C (p.Arg558=)
|
|
|
NM_000343.4(SLC5A1):c.1683G>A (p.Trp561Ter)
|
|
|
NM_000343.4(SLC5A1):c.1689G>A (p.Leu563=)
|
|
|
NM_000343.4(SLC5A1):c.1691G>A (p.Arg564His)
|
|
|
NM_000343.4(SLC5A1):c.1692C>T (p.Arg564=)
|
|
|
NM_000343.4(SLC5A1):c.1695del (p.Asn565fs)
|
rs1455367784
|
|
NM_000343.4(SLC5A1):c.1697G>A (p.Ser566Asn)
|
rs1390196310
|
|
NM_000343.4(SLC5A1):c.16T>C (p.Trp6Arg)
|
|
|
NM_000343.4(SLC5A1):c.1711A>G (p.Ile571Val)
|
|
|
NM_000343.4(SLC5A1):c.171C>T (p.Gly57=)
|
|
|
NM_000343.4(SLC5A1):c.1724C>A (p.Ala575Glu)
|
rs185883847
|
|
NM_000343.4(SLC5A1):c.1730A>C (p.Glu577Ala)
|
rs2094042528
|
|
NM_000343.4(SLC5A1):c.1732G>A (p.Glu578Lys)
|
rs1396167742
|
|
NM_000343.4(SLC5A1):c.1744G>A (p.Glu582Lys)
|
|
|
NM_000343.4(SLC5A1):c.1771+14C>G
|
|
|
NM_000343.4(SLC5A1):c.1771+20A>G
|
|
|
NM_000343.4(SLC5A1):c.1771+3G>A
|
|
|
NM_000343.4(SLC5A1):c.1772-14A>G
|
|
|
NM_000343.4(SLC5A1):c.1772-5C>A
|
rs886057404
|
|
NM_000343.4(SLC5A1):c.1772-6G>A
|
rs201685531
|
|
NM_000343.4(SLC5A1):c.1814C>T (p.Ala605Val)
|
rs2094053423
|
|
NM_000343.4(SLC5A1):c.182C>A (p.Ala61Glu)
|
rs1277952619
|
|
NM_000343.4(SLC5A1):c.1833G>A (p.Gly611=)
|
|
|
NM_000343.4(SLC5A1):c.1845C>T (p.His615=)
|
|
|
NM_000343.4(SLC5A1):c.1872G>A (p.Glu624=)
|
|
|
NM_000343.4(SLC5A1):c.1886AGATGA[3] (p.Met632_Thr633insLysMet)
|
|
|
NM_000343.4(SLC5A1):c.1889T>A (p.Met630Lys)
|
|
|
NM_000343.4(SLC5A1):c.1915C>G (p.Pro639Ala)
|
rs200684333
|
|
NM_000343.4(SLC5A1):c.1915C>T (p.Pro639Ser)
|
rs200684333
|
|
NM_000343.4(SLC5A1):c.1920G>A (p.Leu640=)
|
rs1326329755
|
|
NM_000343.4(SLC5A1):c.1941C>T (p.Val647=)
|
|
|
NM_000343.4(SLC5A1):c.194T>C (p.Met65Thr)
|
|
|
NM_000343.4(SLC5A1):c.1956G>C (p.Leu652=)
|
|
|
NM_000343.4(SLC5A1):c.1962C>T (p.Thr654=)
|
|
|
NM_000343.4(SLC5A1):c.196G>A (p.Val66Met)
|
|
|
NM_000343.4(SLC5A1):c.1993T>C (p.Ter665Arg)
|
rs1382025396
|
|
NM_000343.4(SLC5A1):c.1994G>A (p.Ter665=)
|
|
|
NM_000343.4(SLC5A1):c.207+19G>C
|
|
|
NM_000343.4(SLC5A1):c.208-13T>C
|
|
|
NM_000343.4(SLC5A1):c.208-16T>C
|
|
|
NM_000343.4(SLC5A1):c.208-20A>C
|
|
|
NM_000343.4(SLC5A1):c.208-9C>T
|
|
|
NM_000343.4(SLC5A1):c.216C>T (p.Ala72=)
|
rs2149487752
|
|
NM_000343.4(SLC5A1):c.218C>T (p.Ser73Phe)
|
rs762929535
|
|
NM_000343.4(SLC5A1):c.226del (p.Ala76fs)
|
rs2149487756
|
|
NM_000343.4(SLC5A1):c.231T>C (p.Ser77=)
|
|
|
NM_000343.4(SLC5A1):c.246C>T (p.Gly82=)
|
|
|
NM_000343.4(SLC5A1):c.264C>T (p.Ala88=)
|
|
|
NM_000343.4(SLC5A1):c.265G>A (p.Gly89Arg)
|
|
|
NM_000343.4(SLC5A1):c.272G>C (p.Gly91Ala)
|
rs2149487772
|
|
NM_000343.4(SLC5A1):c.277G>A (p.Ala93Thr)
|
|
|
NM_000343.4(SLC5A1):c.307T>G (p.Trp103Gly)
|
|
|
NM_000343.4(SLC5A1):c.312+17C>A
|
rs2149487784
|
|
NM_000343.4(SLC5A1):c.312+18C>A
|
|
|
NM_000343.4(SLC5A1):c.312+19A>G
|
|
|
NM_000343.4(SLC5A1):c.323T>C (p.Leu108Ser)
|
|
|
NM_000343.4(SLC5A1):c.330T>G (p.Val110=)
|
|
|
NM_000343.4(SLC5A1):c.336G>A (p.Leu112=)
|
|
|
NM_000343.4(SLC5A1):c.33C>T (p.Thr11=)
|
|
|
NM_000343.4(SLC5A1):c.357C>T (p.Ile119=)
|
|
|
NM_000343.4(SLC5A1):c.369T>C (p.Ala123=)
|
rs1569304938
|
|
NM_000343.4(SLC5A1):c.36G>C (p.Ala12=)
|
rs148720069
|
|
NM_000343.4(SLC5A1):c.372+15T>G
|
|
|
NM_000343.4(SLC5A1):c.372+1_372+2insCTTATAT
|
rs764766115
|
|
NM_000343.4(SLC5A1):c.372+7_372+8del
|
rs1374768105
|
|
NM_000343.4(SLC5A1):c.372+8T>G
|
rs1443237221
|
|
NM_000343.4(SLC5A1):c.372G>A (p.Gly124=)
|
|
|
NM_000343.4(SLC5A1):c.373-7del
|
rs778194598
|
|
NM_000343.4(SLC5A1):c.373-8C>T
|
|
|
NM_000343.4(SLC5A1):c.419G>A (p.Arg140Gln)
|
|
|
NM_000343.4(SLC5A1):c.41C>T (p.Thr14Ile)
|
rs2149481647
|
|
NM_000343.4(SLC5A1):c.420G>A (p.Arg140=)
|
|
|
NM_000343.4(SLC5A1):c.429C>T (p.Val143=)
|
|
|
NM_000343.4(SLC5A1):c.447C>G (p.Ser149=)
|
rs771248492
|
|
NM_000343.4(SLC5A1):c.474C>A (p.Ile158=)
|
|
|
NM_000343.4(SLC5A1):c.477+15C>T
|
|
|
NM_000343.4(SLC5A1):c.478-11T>A
|
|
|
NM_000343.4(SLC5A1):c.478-13C>T
|
|
|
NM_000343.4(SLC5A1):c.478-15C>G
|
|
|
NM_000343.4(SLC5A1):c.478-15C>T
|
|
|
NM_000343.4(SLC5A1):c.478-16T>C
|
|
|
NM_000343.4(SLC5A1):c.478-19G>A
|
|
|
NM_000343.4(SLC5A1):c.478-7dup
|
rs33982670
|
|
NM_000343.4(SLC5A1):c.492G>T (p.Ser164=)
|
|
|
NM_000343.4(SLC5A1):c.519A>G (p.Leu173=)
|
|
|
NM_000343.4(SLC5A1):c.531G>A (p.Leu177=)
|
|
|
NM_000343.4(SLC5A1):c.536T>C (p.Leu179Ser)
|
rs2149491664
|
|
NM_000343.4(SLC5A1):c.54G>A (p.Glu18=)
|
|
|
NM_000343.4(SLC5A1):c.559A>G (p.Ile187Val)
|
|
|
NM_000343.4(SLC5A1):c.573C>T (p.Tyr191=)
|
|
|
NM_000343.4(SLC5A1):c.581C>T (p.Thr194Ile)
|
|
|
NM_000343.4(SLC5A1):c.583+3G>A
|
|
|
NM_000343.4(SLC5A1):c.584-19T>C
|
|
|
NM_000343.4(SLC5A1):c.584-4T>A
|
|
|
NM_000343.4(SLC5A1):c.584-5C>T
|
|
|
NM_000343.4(SLC5A1):c.584-6G>A
|
rs200525887
|
|
NM_000343.4(SLC5A1):c.593C>T (p.Ala198Val)
|
|
|
NM_000343.4(SLC5A1):c.594G>A (p.Ala198=)
|
rs184213779
|
|
NM_000343.4(SLC5A1):c.596C>T (p.Ala199Val)
|
|
|
NM_000343.4(SLC5A1):c.597G>A (p.Ala199=)
|
|
|
NM_000343.4(SLC5A1):c.600G>C (p.Val200=)
|
|
|
NM_000343.4(SLC5A1):c.652C>T (p.Leu218=)
|
|
|
NM_000343.4(SLC5A1):c.665-12G>A
|
|
|
NM_000343.4(SLC5A1):c.665-13C>T
|
|
|
NM_000343.4(SLC5A1):c.665-2A>G
|
|
|
NM_000343.4(SLC5A1):c.672C>T (p.His224=)
|
|
|
NM_000343.4(SLC5A1):c.673G>T (p.Glu225Ter)
|
|
|
NM_000343.4(SLC5A1):c.685_696del (p.Tyr229_Phe232del)
|
rs1555965813
|
|
NM_000343.4(SLC5A1):c.690C>T (p.Asp230=)
|
|
|
NM_000343.4(SLC5A1):c.697A>G (p.Met233Val)
|
|
|
NM_000343.4(SLC5A1):c.708C>T (p.Tyr236=)
|
|
|
NM_000343.4(SLC5A1):c.759A>T (p.Glu253Asp)
|
|
|
NM_000343.4(SLC5A1):c.75T>C (p.Asn25=)
|
|
|
NM_000343.4(SLC5A1):c.760A>G (p.Lys254Glu)
|
rs145740433
|
|
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)
|
rs888909415
|
|
NM_000343.4(SLC5A1):c.812C>T (p.Thr271Met)
|
|
|
NM_000343.4(SLC5A1):c.824del (p.Pro275fs)
|
|
|
NM_000343.4(SLC5A1):c.82G>A (p.Asp28Asn)
|
rs121912668
|
|
NM_000343.4(SLC5A1):c.839T>C (p.Ile280Thr)
|
rs2149492356
|
|
NM_000343.4(SLC5A1):c.862T>C (p.Leu288=)
|
|
|
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val)
|
rs139037092
|
|
NM_000343.4(SLC5A1):c.885+16G>A
|
|
|
NM_000343.4(SLC5A1):c.885+19C>G
|
rs200815762
|
|
NM_000343.4(SLC5A1):c.885+19C>T
|
|
|
NM_000343.4(SLC5A1):c.885+20G>A
|
|
|
NM_000343.4(SLC5A1):c.885+5C>T
|
rs199536443
|
|
NM_000343.4(SLC5A1):c.898C>T (p.Arg300Cys)
|
rs201079555
|
|
NM_000343.4(SLC5A1):c.915G>A (p.Lys305=)
|
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NM_000343.4(SLC5A1):c.915_917del (p.Lys305del)
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NM_000343.4(SLC5A1):c.942C>T (p.Cys314=)
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NM_000343.4(SLC5A1):c.948G>A (p.Leu316=)
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NM_000343.4(SLC5A1):c.951T>C (p.Cys317=)
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rs2149492454
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NM_000343.4(SLC5A1):c.963G>A (p.Lys321=)
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NM_000343.4(SLC5A1):c.987G>T (p.Val329=)
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NM_000343.4(SLC5A1):c.993A>G (p.Pro331=)
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NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup)
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rs775681808
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