ClinVar Miner

List of variants in gene SLC5A1 studied for Congenital glucose-galactose malabsorption

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Gene type:
ClinVar version:
Total variants: 466
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HGVS dbSNP gnomAD frequency
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 0.14285
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.1231G>A (p.Ala411Thr) rs17683430 0.04557
NM_000343.4(SLC5A1):c.1938C>T (p.Asn646=) rs33954397 0.04537
NM_000343.4(SLC5A1):c.1836A>G (p.Leu612=) rs17683704 0.04533
NM_000343.4(SLC5A1):c.152A>G (p.Asn51Ser) rs17683011 0.04520
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 0.01074
NM_000343.4(SLC5A1):c.*2244C>T rs114700055 0.01052
NM_000343.4(SLC5A1):c.1666-5T>C rs33968460 0.01020
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 0.00312
NM_000343.4(SLC5A1):c.*1476A>G rs190638859 0.00277
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu) rs150117594 0.00250
NM_000343.4(SLC5A1):c.*1744G>A rs376602365 0.00107
NM_000343.4(SLC5A1):c.*649G>A rs544819758 0.00096
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_000343.4(SLC5A1):c.1359C>T (p.Phe453=) rs139774349 0.00053
NM_000343.4(SLC5A1):c.*400C>T rs117362976 0.00052
NM_000343.3(SLC5A1):c.-60C>T rs200410750 0.00050
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=) rs142046439 0.00034
NM_000343.4(SLC5A1):c.*1312A>G rs768251081 0.00032
NM_000343.3(SLC5A1):c.-120C>T rs886057399 0.00031
NM_000343.4(SLC5A1):c.744C>T (p.Asn248=) rs185126699 0.00031
NM_000343.4(SLC5A1):c.*1455C>A rs559383534 0.00030
NM_000343.4(SLC5A1):c.*707G>A rs886057409 0.00026
NM_000343.4(SLC5A1):c.1280+8C>G rs200130719 0.00025
NM_000343.4(SLC5A1):c.*1995T>C rs999440734 0.00023
NM_000343.4(SLC5A1):c.1752T>G (p.Pro584=) rs149362007 0.00022
NM_000343.4(SLC5A1):c.*2251G>A rs569361272 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 0.00015
NM_000343.3(SLC5A1):c.-36G>A rs200961861 0.00014
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.1771+3G>A rs200505551 0.00011
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile) rs33918436 0.00011
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met) rs33975915 0.00010
NM_000343.4(SLC5A1):c.312+3G>A rs200776237 0.00010
NM_000343.4(SLC5A1):c.1962C>T (p.Thr654=) rs140185056 0.00009
NM_000343.4(SLC5A1):c.*636A>G rs932433422 0.00008
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp) rs200626260 0.00008
NM_000343.4(SLC5A1):c.312+18C>A rs200051594 0.00008
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=) rs201895474 0.00007
NM_000343.4(SLC5A1):c.478-11T>A rs201044273 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.1618A>G (p.Thr540Ala) rs200105476 0.00006
NM_000343.4(SLC5A1):c.1656G>A (p.Pro552=) rs375169164 0.00006
NM_000343.4(SLC5A1):c.690C>T (p.Asp230=) rs200871315 0.00006
NM_000343.4(SLC5A1):c.*334G>A rs199902294 0.00005
NM_000343.4(SLC5A1):c.1012C>G (p.Leu338Val) rs201216997 0.00005
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.34G>A (p.Ala12Thr) rs202189110 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.813G>A (p.Thr271=) rs200849778 0.00005
NM_000343.4(SLC5A1):c.885+15T>C rs557130106 0.00005
NM_000343.4(SLC5A1):c.885+20G>A rs201505380 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.*451A>G rs200434456 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.593C>T (p.Ala198Val) rs142137533 0.00004
NM_000343.4(SLC5A1):c.597G>A (p.Ala199=) rs541654306 0.00004
NM_000343.4(SLC5A1):c.948G>A (p.Leu316=) rs754642839 0.00004
NM_000343.4(SLC5A1):c.*1842C>T rs1039766018 0.00003
NM_000343.4(SLC5A1):c.*2132C>A rs541518106 0.00003
NM_000343.4(SLC5A1):c.*771C>T rs550005508 0.00003
NM_000343.4(SLC5A1):c.1089C>T (p.Asn363=) rs762644179 0.00003
NM_000343.4(SLC5A1):c.1179C>T (p.Ser393=) rs201456202 0.00003
NM_000343.4(SLC5A1):c.1232C>T (p.Ala411Val) rs751571109 0.00003
NM_000343.4(SLC5A1):c.1370A>G (p.Gln457Arg) rs200401846 0.00003
NM_000343.4(SLC5A1):c.1623C>T (p.Ile541=) rs200863427 0.00003
NM_000343.4(SLC5A1):c.1666-2del rs764819816 0.00003
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter) rs202166715 0.00003
NM_000343.4(SLC5A1):c.188G>A (p.Arg63Gln) rs200352654 0.00003
NM_000343.4(SLC5A1):c.1918T>C (p.Leu640=) rs201676029 0.00003
NM_000343.4(SLC5A1):c.208-9C>T rs376504656 0.00003
NM_000343.4(SLC5A1):c.44G>A (p.Arg15Gln) rs142249046 0.00003
NM_000343.4(SLC5A1):c.461T>C (p.Ile154Thr) rs565272257 0.00003
NM_000343.4(SLC5A1):c.475T>C (p.Ser159Pro) rs933026071 0.00003
NM_000343.4(SLC5A1):c.623C>T (p.Thr208Met) rs199872285 0.00003
NM_000343.4(SLC5A1):c.665-12G>A rs201764340 0.00003
NM_000343.4(SLC5A1):c.709A>C (p.Met237Leu) rs766404734 0.00003
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.1315G>A (p.Ala439Thr) rs200562349 0.00002
NM_000343.4(SLC5A1):c.135+14T>G rs377751650 0.00002
NM_000343.4(SLC5A1):c.1400T>C (p.Ile467Thr) rs199872460 0.00002
NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys) rs767673239 0.00002
NM_000343.4(SLC5A1):c.1603G>A (p.Ala535Thr) rs759726503 0.00002
NM_000343.4(SLC5A1):c.1666-10T>C rs749971772 0.00002
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=) rs1475148938 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.1772-14A>G rs1353241444 0.00002
NM_000343.4(SLC5A1):c.33C>T (p.Thr11=) rs372066068 0.00002
NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg) rs777391124 0.00002
NM_000343.4(SLC5A1):c.372G>A (p.Gly124=) rs200270930 0.00002
NM_000343.4(SLC5A1):c.373-9C>T rs199690019 0.00002
NM_000343.4(SLC5A1):c.478-15C>T rs1032566409 0.00002
NM_000343.4(SLC5A1):c.478-20C>T rs200103091 0.00002
NM_000343.4(SLC5A1):c.697A>G (p.Met233Val) rs200026740 0.00002
NM_000343.4(SLC5A1):c.919A>G (p.Met307Val) rs767572551 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.*183G>C rs886057406 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.1022-7T>C rs146612147 0.00001
NM_000343.4(SLC5A1):c.1028T>C (p.Ile343Thr) rs774741107 0.00001
NM_000343.4(SLC5A1):c.102C>T (p.Ile34=) rs2517633854 0.00001
NM_000343.4(SLC5A1):c.1035T>C (p.Cys345=) rs748418690 0.00001
NM_000343.4(SLC5A1):c.1038C>T (p.Val346=) rs201495791 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.1182G>A (p.Leu394=) rs182951924 0.00001
NM_000343.4(SLC5A1):c.1203C>T (p.Ala401=) rs895443899 0.00001
NM_000343.4(SLC5A1):c.1230C>T (p.Tyr410=) rs200206252 0.00001
NM_000343.4(SLC5A1):c.1233C>G (p.Ala411=) rs2094018051 0.00001
NM_000343.4(SLC5A1):c.1236G>A (p.Lys412=) rs33940137 0.00001
NM_000343.4(SLC5A1):c.123C>T (p.Ala41=) rs776245001 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.126C>T (p.Val42=) rs145265137 0.00001
NM_000343.4(SLC5A1):c.1276G>A (p.Gly426Arg) rs1304151494 0.00001
NM_000343.4(SLC5A1):c.1301T>C (p.Ile434Thr) rs202090647 0.00001
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=) rs1229387697 0.00001
NM_000343.4(SLC5A1):c.135+10G>A rs200959236 0.00001
NM_000343.4(SLC5A1):c.135+12G>T rs927895146 0.00001
NM_000343.4(SLC5A1):c.135+16T>G rs201887751 0.00001
NM_000343.4(SLC5A1):c.135+9C>T rs1380051986 0.00001
NM_000343.4(SLC5A1):c.136-17dup rs2093943077 0.00001
NM_000343.4(SLC5A1):c.1360G>A (p.Asp454Asn) rs202145392 0.00001
NM_000343.4(SLC5A1):c.1403C>T (p.Ala468Val) rs200406921 0.00001
NM_000343.4(SLC5A1):c.1404G>A (p.Ala468=) rs767459349 0.00001
NM_000343.4(SLC5A1):c.1434G>A (p.Lys478=) rs374997248 0.00001
NM_000343.4(SLC5A1):c.1450-18C>T rs936383273 0.00001
NM_000343.4(SLC5A1):c.1450-5del rs1254762411 0.00001
NM_000343.4(SLC5A1):c.1471C>T (p.Leu491=) rs1319073220 0.00001
NM_000343.4(SLC5A1):c.1496G>A (p.Arg499His) rs927157864 0.00001
NM_000343.4(SLC5A1):c.162T>C (p.Thr54=) rs201673887 0.00001
NM_000343.4(SLC5A1):c.1642A>T (p.Thr548Ser) rs945722283 0.00001
NM_000343.4(SLC5A1):c.1666-13G>A rs767426119 0.00001
NM_000343.4(SLC5A1):c.1672C>T (p.Arg558Cys) rs754586981 0.00001
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) rs201799893 0.00001
NM_000343.4(SLC5A1):c.1689G>A (p.Leu563=) rs780933010 0.00001
NM_000343.4(SLC5A1):c.1692C>T (p.Arg564=) rs2094042357 0.00001
NM_000343.4(SLC5A1):c.1697G>A (p.Ser566Asn) rs1390196310 0.00001
NM_000343.4(SLC5A1):c.1711A>G (p.Ile571Val) rs780176626 0.00001
NM_000343.4(SLC5A1):c.171C>T (p.Gly57=) rs766972416 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+14C>G rs201702584 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.1833G>A (p.Gly611=) rs758503220 0.00001
NM_000343.4(SLC5A1):c.1872G>A (p.Glu624=) rs2517680896 0.00001
NM_000343.4(SLC5A1):c.1941C>T (p.Val647=) rs745834719 0.00001
NM_000343.4(SLC5A1):c.1956G>C (p.Leu652=) rs775076981 0.00001
NM_000343.4(SLC5A1):c.200G>A (p.Trp67Ter) rs1203557575 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.208-16T>C rs771140849 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.369T>C (p.Ala123=) rs1569304938 0.00001
NM_000343.4(SLC5A1):c.373-13G>A rs201398293 0.00001
NM_000343.4(SLC5A1):c.373-8C>T rs749639473 0.00001
NM_000343.4(SLC5A1):c.404G>A (p.Arg135Gln) rs373203939 0.00001
NM_000343.4(SLC5A1):c.420G>A (p.Arg140=) rs570743274 0.00001
NM_000343.4(SLC5A1):c.43C>T (p.Arg15Trp) rs33915717 0.00001
NM_000343.4(SLC5A1):c.477+15C>T rs199577285 0.00001
NM_000343.4(SLC5A1):c.477G>A (p.Ser159=) rs775435397 0.00001
NM_000343.4(SLC5A1):c.478-19G>A rs201158993 0.00001
NM_000343.4(SLC5A1):c.519A>G (p.Leu173=) rs540653671 0.00001
NM_000343.4(SLC5A1):c.531G>A (p.Leu177=) rs761303918 0.00001
NM_000343.4(SLC5A1):c.573C>T (p.Tyr191=) rs759024276 0.00001
NM_000343.4(SLC5A1):c.583+20C>A rs757295052 0.00001
NM_000343.4(SLC5A1):c.584-5C>T rs752055634 0.00001
NM_000343.4(SLC5A1):c.596C>T (p.Ala199Val) rs756414305 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.665-13C>T rs370203159 0.00001
NM_000343.4(SLC5A1):c.665-2A>G rs200105615 0.00001
NM_000343.4(SLC5A1):c.672C>T (p.His224=) rs145490212 0.00001
NM_000343.4(SLC5A1):c.691G>A (p.Ala231Thr) rs202020538 0.00001
NM_000343.4(SLC5A1):c.708C>T (p.Tyr236=) rs1214008697 0.00001
NM_000343.4(SLC5A1):c.738T>C (p.Asp246=) rs1396640058 0.00001
NM_000343.4(SLC5A1):c.760A>G (p.Lys254Glu) rs145740433 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.812C>T (p.Thr271Met) rs370932142 0.00001
NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly) rs121912669 0.00001
NM_000343.4(SLC5A1):c.875G>A (p.Cys292Tyr) rs765502638 0.00001
NM_000343.4(SLC5A1):c.885+16G>A rs751372792 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
NM_000343.4(SLC5A1):c.942C>T (p.Cys314=) rs33957088 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.*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=) rs2517662651
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys) rs768831308
NM_000343.4(SLC5A1):c.1008C>T (p.Arg336=) rs2517662660
NM_000343.4(SLC5A1):c.1021+15T>G rs2094005903
NM_000343.4(SLC5A1):c.1021+19C>T
NM_000343.4(SLC5A1):c.1021+1G>A rs2149492476
NM_000343.4(SLC5A1):c.1021+9T>C
NM_000343.4(SLC5A1):c.1030G>T (p.Ala344Ser) rs2149492818
NM_000343.4(SLC5A1):c.1063T>A (p.Cys355Ser)
NM_000343.4(SLC5A1):c.1088A>G (p.Asn363Ser) rs2517663990
NM_000343.4(SLC5A1):c.1097A>G (p.Tyr366Cys) rs2149492851
NM_000343.4(SLC5A1):c.109G>A (p.Val37Met)
NM_000343.4(SLC5A1):c.1102A>G (p.Thr368Ala)
NM_000343.4(SLC5A1):c.1129+23_1129+26del rs2149492876
NM_000343.4(SLC5A1):c.1129+3G>A
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.1151C>G (p.Ser384Ter)
NM_000343.4(SLC5A1):c.1171A>C (p.Met391Leu) rs1359279768
NM_000343.4(SLC5A1):c.1185C>T (p.Thr395=) rs768110133
NM_000343.4(SLC5A1):c.1191C>T (p.Ile397=) rs1457860223
NM_000343.4(SLC5A1):c.1201G>A (p.Ala401Thr)
NM_000343.4(SLC5A1):c.1202C>T (p.Ala401Val) rs2149494224
NM_000343.4(SLC5A1):c.121G>A (p.Ala41Thr) rs770382788
NM_000343.4(SLC5A1):c.1224C>T (p.Asp408=)
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter) rs200206252
NM_000343.4(SLC5A1):c.1239C>T (p.Val413=) rs267606231
NM_000343.4(SLC5A1):c.1240C>T (p.Arg414Cys)
NM_000343.4(SLC5A1):c.1241G>A (p.Arg414His) rs199573966
NM_000343.4(SLC5A1):c.1256A>T (p.Glu419Val) rs1414911182
NM_000343.4(SLC5A1):c.1261G>C (p.Glu421Gln)
NM_000343.4(SLC5A1):c.127G>A (p.Gly43Arg)
NM_000343.4(SLC5A1):c.1280+13T>C
NM_000343.4(SLC5A1):c.1280+17C>T
NM_000343.4(SLC5A1):c.1280+7G>T rs2517668034
NM_000343.4(SLC5A1):c.1281-13G>T
NM_000343.4(SLC5A1):c.1281-8_1281-4dup rs1308162542
NM_000343.4(SLC5A1):c.1281G>T (p.Arg427Ser) rs899334786
NM_000343.4(SLC5A1):c.1339G>A (p.Ala447Thr) rs1489749698
NM_000343.4(SLC5A1):c.136-1G>A rs267606230
NM_000343.4(SLC5A1):c.1371G>C (p.Gln457His) rs2149496672
NM_000343.4(SLC5A1):c.1388T>A (p.Leu463Ter) rs2517673510
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.1404G>C (p.Ala468=) rs767459349
NM_000343.4(SLC5A1):c.1427T>G (p.Phe476Cys) rs2094032479
NM_000343.4(SLC5A1):c.1431G>A (p.Trp477Ter)
NM_000343.4(SLC5A1):c.1431G>T (p.Trp477Cys) rs200665892
NM_000343.4(SLC5A1):c.1449+14G>A rs2517673604
NM_000343.4(SLC5A1):c.1449+15G>T
NM_000343.4(SLC5A1):c.1449A>G (p.Pro483=) rs752536347
NM_000343.4(SLC5A1):c.1450-20C>T
NM_000343.4(SLC5A1):c.1450G>A (p.Gly484Arg) rs886057403
NM_000343.4(SLC5A1):c.1478T>A (p.Leu493His) rs2517675077
NM_000343.4(SLC5A1):c.1496G>C (p.Arg499Pro) rs927157864
NM_000343.4(SLC5A1):c.1506T>C (p.Thr502=) rs2517675098
NM_000343.4(SLC5A1):c.1518T>C (p.Tyr506=) rs2517675109
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>A (p.Thr519=)
NM_000343.4(SLC5A1):c.1557G>C (p.Thr519=) rs201764381
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=) rs33939337
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.1628T>G (p.Val543Gly) rs751495719
NM_000343.4(SLC5A1):c.164T>C (p.Val55Ala) rs2093943146
NM_000343.4(SLC5A1):c.1665+19G>C rs1289164759
NM_000343.4(SLC5A1):c.1665+3G>A
NM_000343.4(SLC5A1):c.1665+7A>G
NM_000343.4(SLC5A1):c.1666-20C>G rs761860994
NM_000343.4(SLC5A1):c.1674T>C (p.Arg558=) rs2517677250
NM_000343.4(SLC5A1):c.1683G>A (p.Trp561Ter) rs2517677261
NM_000343.4(SLC5A1):c.1691G>A (p.Arg564His) rs1449988154
NM_000343.4(SLC5A1):c.1695del (p.Asn565fs) rs1455367784
NM_000343.4(SLC5A1):c.16T>C (p.Trp6Arg) rs1428682219
NM_000343.4(SLC5A1):c.1702G>C (p.Glu568Gln)
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.1738A>G (p.Ile580Val)
NM_000343.4(SLC5A1):c.1744G>A (p.Glu582Lys) rs2517677392
NM_000343.4(SLC5A1):c.1751C>T (p.Pro584Leu)
NM_000343.4(SLC5A1):c.1771+20A>G rs749318793
NM_000343.4(SLC5A1):c.1772-11C>T
NM_000343.4(SLC5A1):c.1772-1G>A
NM_000343.4(SLC5A1):c.1772-5C>A rs886057404
NM_000343.4(SLC5A1):c.1772-6G>A rs201685531
NM_000343.4(SLC5A1):c.1787A>C (p.Glu596Ala)
NM_000343.4(SLC5A1):c.1801A>G (p.Ile601Val)
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.1845C>T (p.His615=) rs33954001
NM_000343.4(SLC5A1):c.1867G>A (p.Glu623Lys)
NM_000343.4(SLC5A1):c.1883T>C (p.Met628Thr)
NM_000343.4(SLC5A1):c.1886AGATGA[3] (p.Met632_Thr633insLysMet) rs2517680913
NM_000343.4(SLC5A1):c.1889T>A (p.Met630Lys) rs2094053624
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.1919T>C (p.Leu640Ser)
NM_000343.4(SLC5A1):c.1920G>A (p.Leu640=) rs1326329755
NM_000343.4(SLC5A1):c.194T>C (p.Met65Thr) rs201383366
NM_000343.4(SLC5A1):c.196G>A (p.Val66Met) rs1460424935
NM_000343.4(SLC5A1):c.1993T>C (p.Ter665Arg) rs1382025396
NM_000343.4(SLC5A1):c.1994G>A (p.Ter665=) rs2149499988
NM_000343.4(SLC5A1):c.205_207+2delinsAA
NM_000343.4(SLC5A1):c.207+19G>C rs201259641
NM_000343.4(SLC5A1):c.207+2T>C
NM_000343.4(SLC5A1):c.207G>A (p.Pro69=)
NM_000343.4(SLC5A1):c.208-13T>C rs200261297
NM_000343.4(SLC5A1):c.208-13T>G
NM_000343.4(SLC5A1):c.208-20A>C rs2517648777
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=) rs2517648837
NM_000343.4(SLC5A1):c.240A>T (p.Gly80=)
NM_000343.4(SLC5A1):c.246C>T (p.Gly82=) rs2517648865
NM_000343.4(SLC5A1):c.259del (p.Leu87fs)
NM_000343.4(SLC5A1):c.264C>T (p.Ala88=) rs1387609815
NM_000343.4(SLC5A1):c.265G>A (p.Gly89Arg) rs1172889016
NM_000343.4(SLC5A1):c.272G>C (p.Gly91Ala) rs2149487772
NM_000343.4(SLC5A1):c.277G>A (p.Ala93Thr) rs2517648910
NM_000343.4(SLC5A1):c.286A>G (p.Ile96Val)
NM_000343.4(SLC5A1):c.293T>C (p.Ile98Thr)
NM_000343.4(SLC5A1):c.2T>C (p.Met1Thr)
NM_000343.4(SLC5A1):c.307T>G (p.Trp103Gly) rs2093974548
NM_000343.4(SLC5A1):c.312+17C>A rs2149487784
NM_000343.4(SLC5A1):c.312+19A>G rs1263267921
NM_000343.4(SLC5A1):c.313-7A>G
NM_000343.4(SLC5A1):c.313-7A>T
NM_000343.4(SLC5A1):c.323T>C (p.Leu108Ser) rs2517649710
NM_000343.4(SLC5A1):c.330T>G (p.Val110=) rs933592281
NM_000343.4(SLC5A1):c.336G>A (p.Leu112=) rs2517649734
NM_000343.4(SLC5A1):c.357C>T (p.Ile119=) rs2517649764
NM_000343.4(SLC5A1):c.36G>C (p.Ala12=) rs148720069
NM_000343.4(SLC5A1):c.372+15T>G rs774340707
NM_000343.4(SLC5A1):c.372+1_372+2insCTTATAT rs764766115
NM_000343.4(SLC5A1):c.372+2_372+8delinsCTTATATTAAGG
NM_000343.4(SLC5A1):c.372+7_372+8del rs1374768105
NM_000343.4(SLC5A1):c.372+8T>G rs1443237221
NM_000343.4(SLC5A1):c.373-10C>T
NM_000343.4(SLC5A1):c.373-6A>G
NM_000343.4(SLC5A1):c.373-7del rs778194598
NM_000343.4(SLC5A1):c.376G>A (p.Val126Met)
NM_000343.4(SLC5A1):c.419G>A (p.Arg140Gln) rs772220977
NM_000343.4(SLC5A1):c.41C>T (p.Thr14Ile) rs2149481647
NM_000343.4(SLC5A1):c.429C>T (p.Val143=) rs1439640016
NM_000343.4(SLC5A1):c.447C>G (p.Ser149=) rs771248492
NM_000343.4(SLC5A1):c.474C>A (p.Ile158=) rs2517650381
NM_000343.4(SLC5A1):c.478-12C>T rs1447609181
NM_000343.4(SLC5A1):c.478-13C>T rs370759729
NM_000343.4(SLC5A1):c.478-15C>G rs1032566409
NM_000343.4(SLC5A1):c.478-16T>C rs2517659717
NM_000343.4(SLC5A1):c.478-7dup rs33982670
NM_000343.4(SLC5A1):c.491C>T (p.Ser164Leu)
NM_000343.4(SLC5A1):c.492G>A (p.Ser164=) rs145808292
NM_000343.4(SLC5A1):c.492G>C (p.Ser164=)
NM_000343.4(SLC5A1):c.492G>T (p.Ser164=) rs145808292
NM_000343.4(SLC5A1):c.536T>C (p.Leu179Ser) rs2149491664
NM_000343.4(SLC5A1):c.54G>A (p.Glu18=) rs2517633751
NM_000343.4(SLC5A1):c.559A>G (p.Ile187Val) rs2517659863
NM_000343.4(SLC5A1):c.581C>T (p.Thr194Ile) rs2517659899
NM_000343.4(SLC5A1):c.583+3G>A rs377350650
NM_000343.4(SLC5A1):c.584-19T>C rs2517660607
NM_000343.4(SLC5A1):c.584-4T>A rs1327044079
NM_000343.4(SLC5A1):c.584-6G>A rs200525887
NM_000343.4(SLC5A1):c.594G>A (p.Ala198=) rs184213779
NM_000343.4(SLC5A1):c.600G>C (p.Val200=) rs749082931
NM_000343.4(SLC5A1):c.611A>G (p.Asp204Gly)
NM_000343.4(SLC5A1):c.652C>T (p.Leu218=) rs763424471
NM_000343.4(SLC5A1):c.664+11C>T
NM_000343.4(SLC5A1):c.673G>T (p.Glu225Ter) rs774829996
NM_000343.4(SLC5A1):c.685_696del (p.Tyr229_Phe232del) rs1555965813
NM_000343.4(SLC5A1):c.717C>T (p.Ala239=)
NM_000343.4(SLC5A1):c.735T>G (p.Ser245=)
NM_000343.4(SLC5A1):c.757G>T (p.Glu253Ter)
NM_000343.4(SLC5A1):c.759A>T (p.Glu253Asp) rs1452319196
NM_000343.4(SLC5A1):c.75T>C (p.Asn25=) rs201331252
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp) rs888909415
NM_000343.4(SLC5A1):c.780C>T (p.Ala260=)
NM_000343.4(SLC5A1):c.800G>A (p.Arg267Gln)
NM_000343.4(SLC5A1):c.81C>T (p.Ala27=)
NM_000343.4(SLC5A1):c.824del (p.Pro275fs) rs2517662048
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.855C>T (p.Ile285=) rs1471239456
NM_000343.4(SLC5A1):c.85A>G (p.Ile29Val)
NM_000343.4(SLC5A1):c.862T>C (p.Leu288=) rs139037092
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val) rs139037092
NM_000343.4(SLC5A1):c.866G>A (p.Trp289Ter)
NM_000343.4(SLC5A1):c.885+19C>G rs200815762
NM_000343.4(SLC5A1):c.885+19C>T rs200815762
NM_000343.4(SLC5A1):c.885+1G>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.899G>A (p.Arg300His)
NM_000343.4(SLC5A1):c.915G>A (p.Lys305=) rs761699772
NM_000343.4(SLC5A1):c.915_917del (p.Lys305del) rs2517662532
NM_000343.4(SLC5A1):c.927C>T (p.His309=)
NM_000343.4(SLC5A1):c.947T>C (p.Leu316Pro)
NM_000343.4(SLC5A1):c.951T>C (p.Cys317=) rs2149492454
NM_000343.4(SLC5A1):c.955T>C (p.Tyr319His)
NM_000343.4(SLC5A1):c.963G>A (p.Lys321=) rs202070786
NM_000343.4(SLC5A1):c.981C>T (p.Ile327=)
NM_000343.4(SLC5A1):c.987G>A (p.Val329=)
NM_000343.4(SLC5A1):c.987G>T (p.Val329=) rs770305399
NM_000343.4(SLC5A1):c.993A>G (p.Pro331=) rs2517662641
NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup) rs775681808

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