ClinVar Miner

List of variants studied for Immunodeficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 735
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HGVS dbSNP gnomAD frequency
NM_138713.4(NFAT5):c.3351T>C (p.Ile1117=) rs61730073 0.04796
NM_138713.4(NFAT5):c.1370-17C>A rs7190054 0.01890
NM_138713.4(NFAT5):c.2526G>A (p.Glu842=) rs61730074 0.00809
NM_001385161.1(MR1):c.92G>A (p.Arg31His) rs41268456 0.00749
NM_138713.4(NFAT5):c.3752A>G (p.Gln1251Arg) rs145602190 0.00369
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=) rs41306796 0.00184
NM_138713.4(NFAT5):c.1969T>G (p.Ser657Ala) rs56368098 0.00159
NM_138713.4(NFAT5):c.812+19T>A rs201212691 0.00128
NM_138713.4(NFAT5):c.4415-19G>T rs149776149 0.00073
NM_138713.4(NFAT5):c.388G>A (p.Val130Met) rs200933617 0.00066
NM_138713.4(NFAT5):c.2079G>A (p.Leu693=) rs144343499 0.00059
NM_138713.4(NFAT5):c.2121T>C (p.Phe707=) rs140247329 0.00058
NM_138713.4(NFAT5):c.1363T>C (p.Leu455=) rs150917774 0.00050
NM_138713.4(NFAT5):c.1005+4T>C rs201684496 0.00048
NM_138713.4(NFAT5):c.1697C>G (p.Ala566Gly) rs150693156 0.00048
NM_138713.4(NFAT5):c.430A>G (p.Ser144Gly) rs148886916 0.00046
NM_138713.4(NFAT5):c.693A>G (p.Lys231=) rs143392508 0.00032
NM_138713.4(NFAT5):c.1839A>G (p.Pro613=) rs140085549 0.00030
NM_138713.4(NFAT5):c.4415-10G>A rs200584511 0.00029
NM_138713.4(NFAT5):c.4236A>G (p.Gln1412=) rs142219276 0.00026
NM_000606.3(C8G):c.541T>C (p.Tyr181His) rs138632480 0.00025
NM_138713.4(NFAT5):c.2227G>A (p.Asp743Asn) rs201856741 0.00025
NM_138713.4(NFAT5):c.4296G>A (p.Ser1432=) rs111919990 0.00024
NM_138713.4(NFAT5):c.543G>A (p.Gly181=) rs56393495 0.00024
NM_138713.4(NFAT5):c.2204A>T (p.Gln735Leu) rs189877263 0.00023
NM_138713.4(NFAT5):c.4336G>A (p.Gly1446Ser) rs145862239 0.00021
NM_138713.4(NFAT5):c.1230T>C (p.Asn410=) rs202116987 0.00019
NM_138713.4(NFAT5):c.2343A>G (p.Pro781=) rs201041243 0.00019
NM_138713.4(NFAT5):c.2541T>C (p.Asp847=) rs145897440 0.00019
NM_138713.4(NFAT5):c.2332A>G (p.Asn778Asp) rs202102702 0.00016
NM_138713.4(NFAT5):c.1827C>T (p.Ala609=) rs371564532 0.00015
NM_138713.4(NFAT5):c.1819C>T (p.Pro607Ser) rs150038450 0.00014
NM_138713.4(NFAT5):c.2979A>C (p.Ala993=) rs769499907 0.00013
NM_138713.4(NFAT5):c.3665C>T (p.Pro1222Leu) rs755263731 0.00012
NM_138713.4(NFAT5):c.1197-16T>A rs555016270 0.00011
NM_138713.4(NFAT5):c.3766A>G (p.Ile1256Val) rs536381098 0.00011
NM_138713.4(NFAT5):c.3917A>G (p.Asn1306Ser) rs190491342 0.00010
NM_138713.4(NFAT5):c.4006A>G (p.Met1336Val) rs150642075 0.00010
NM_138713.4(NFAT5):c.1832T>A (p.Met611Lys) rs374998786 0.00009
NM_138713.4(NFAT5):c.2274A>G (p.Gln758=) rs370617398 0.00008
NM_138713.4(NFAT5):c.3849A>G (p.Gln1283=) rs768420903 0.00008
NM_032040.5(CCDC8):c.818C>T (p.Ser273Phe) rs145652080 0.00007
NM_138713.4(NFAT5):c.1053C>T (p.Asn351=) rs138688929 0.00007
NM_138713.4(NFAT5):c.2093C>A (p.Thr698Asn) rs376624071 0.00007
NM_138713.4(NFAT5):c.2191A>G (p.Thr731Ala) rs755321383 0.00007
NM_138713.4(NFAT5):c.2679G>A (p.Thr893=) rs776096413 0.00007
NM_138713.4(NFAT5):c.3424G>A (p.Ala1142Thr) rs372688181 0.00007
NM_138713.4(NFAT5):c.3721A>G (p.Met1241Val) rs149983493 0.00007
NM_138713.4(NFAT5):c.424T>A (p.Leu142Ile) rs1005932189 0.00007
NM_138713.4(NFAT5):c.1777A>G (p.Met593Val) rs182069051 0.00006
NM_138713.4(NFAT5):c.1928C>T (p.Thr643Ile) rs559423977 0.00006
NM_138713.4(NFAT5):c.2678C>A (p.Thr893Lys) rs149255851 0.00006
NM_138713.4(NFAT5):c.3073A>T (p.Thr1025Ser) rs751417445 0.00006
NM_138713.4(NFAT5):c.3104A>G (p.Asn1035Ser) rs779806445 0.00006
NM_138713.4(NFAT5):c.3171A>G (p.Gln1057=) rs374613148 0.00006
NM_138713.4(NFAT5):c.3282T>C (p.Asn1094=) rs370482742 0.00006
NM_138713.4(NFAT5):c.387C>T (p.Ala129=) rs138585527 0.00006
NM_138713.4(NFAT5):c.4085C>T (p.Ser1362Leu) rs376194958 0.00006
NM_138713.4(NFAT5):c.4573A>G (p.Thr1525Ala) rs150303079 0.00006
NM_001242.5(CD27):c.319C>T (p.Arg107Cys) rs371761387 0.00005
NM_138713.4(NFAT5):c.1165G>A (p.Gly389Ser) rs759928002 0.00005
NM_138713.4(NFAT5):c.1206C>T (p.Cys402=) rs759542459 0.00005
NM_138713.4(NFAT5):c.1216T>C (p.Leu406=) rs371616463 0.00005
NM_138713.4(NFAT5):c.1359A>G (p.Pro453=) rs772261647 0.00005
NM_138713.4(NFAT5):c.1504+11A>G rs542880704 0.00005
NM_138713.4(NFAT5):c.2086A>G (p.Ile696Val) rs1360098649 0.00005
NM_138713.4(NFAT5):c.2105C>T (p.Ser702Leu) rs369860927 0.00005
NM_138713.4(NFAT5):c.2304A>G (p.Ala768=) rs760192026 0.00005
NM_138713.4(NFAT5):c.2601A>G (p.Thr867=) rs894702419 0.00005
NM_138713.4(NFAT5):c.2783A>G (p.Gln928Arg) rs148167814 0.00005
NM_138713.4(NFAT5):c.2892G>A (p.Glu964=) rs201618723 0.00005
NM_138713.4(NFAT5):c.3466A>G (p.Thr1156Ala) rs750787383 0.00005
NM_138713.4(NFAT5):c.3514A>G (p.Thr1172Ala) rs546177959 0.00005
NM_138713.4(NFAT5):c.4295C>T (p.Ser1432Leu) rs201563281 0.00005
NM_138713.4(NFAT5):c.1370-14A>G rs557483217 0.00004
NM_138713.4(NFAT5):c.1370-16T>G rs374473880 0.00004
NM_138713.4(NFAT5):c.1775-4G>A rs780409171 0.00004
NM_138713.4(NFAT5):c.2164C>T (p.Leu722=) rs757903159 0.00004
NM_138713.4(NFAT5):c.2429G>A (p.Ser810Asn) rs774143282 0.00004
NM_138713.4(NFAT5):c.2826A>G (p.Gly942=) rs745397287 0.00004
NM_138713.4(NFAT5):c.2841G>A (p.Ser947=) rs763536891 0.00004
NM_138713.4(NFAT5):c.2842C>T (p.Pro948Ser) rs141926483 0.00004
NM_138713.4(NFAT5):c.2907G>C (p.Gln969His) rs760690970 0.00004
NM_138713.4(NFAT5):c.3402G>A (p.Met1134Ile) rs759325868 0.00004
NM_138713.4(NFAT5):c.3673G>A (p.Gly1225Ser) rs377262455 0.00004
NM_138713.4(NFAT5):c.4263C>T (p.Asn1421=) rs763792026 0.00004
NM_138713.4(NFAT5):c.4522C>T (p.Leu1508Phe) rs376433264 0.00004
NM_138713.4(NFAT5):c.4558G>T (p.Ala1520Ser) rs199749272 0.00004
NM_138713.4(NFAT5):c.975T>C (p.Asp325=) rs774078368 0.00004
NM_138713.4(NFAT5):c.1193T>G (p.Leu398Arg) rs1315353608 0.00003
NM_138713.4(NFAT5):c.1842C>T (p.Leu614=) rs776971756 0.00003
NM_138713.4(NFAT5):c.1872T>C (p.Asp624=) rs558415060 0.00003
NM_138713.4(NFAT5):c.2085T>C (p.Thr695=) rs756565734 0.00003
NM_138713.4(NFAT5):c.2287C>A (p.Pro763Thr) rs372430182 0.00003
NM_138713.4(NFAT5):c.2559T>A (p.Ser853Arg) rs754912220 0.00003
NM_138713.4(NFAT5):c.283A>G (p.Met95Val) rs369918817 0.00003
NM_138713.4(NFAT5):c.2981C>T (p.Thr994Ile) rs779718608 0.00003
NM_138713.4(NFAT5):c.3111T>A (p.Pro1037=) rs754416047 0.00003
NM_138713.4(NFAT5):c.3207G>A (p.Glu1069=) rs563419065 0.00003
NM_138713.4(NFAT5):c.3291C>T (p.Ala1097=) rs200900195 0.00003
NM_138713.4(NFAT5):c.3298C>G (p.Gln1100Glu) rs753594508 0.00003
NM_138713.4(NFAT5):c.3666G>A (p.Pro1222=) rs139231335 0.00003
NM_138713.4(NFAT5):c.3809A>G (p.Gln1270Arg) rs368723927 0.00003
NM_138713.4(NFAT5):c.3819A>G (p.Gln1273=) rs958258553 0.00003
NM_138713.4(NFAT5):c.409G>A (p.Val137Ile) rs1379586467 0.00003
NM_138713.4(NFAT5):c.4164G>A (p.Gln1388=) rs768892397 0.00003
NM_138713.4(NFAT5):c.4191A>C (p.Ala1397=) rs774705037 0.00003
NM_138713.4(NFAT5):c.504C>T (p.Asp168=) rs779989621 0.00003
NM_138713.4(NFAT5):c.609C>T (p.Asn203=) rs138012931 0.00003
NM_138713.4(NFAT5):c.1283G>A (p.Arg428His) rs141565383 0.00002
NM_138713.4(NFAT5):c.1452C>T (p.Ile484=) rs762414992 0.00002
NM_138713.4(NFAT5):c.1504+8C>T rs771199145 0.00002
NM_138713.4(NFAT5):c.1681C>G (p.Pro561Ala) rs754792616 0.00002
NM_138713.4(NFAT5):c.1989C>G (p.Gly663=) rs374964483 0.00002
NM_138713.4(NFAT5):c.1998A>G (p.Ser666=) rs764911018 0.00002
NM_138713.4(NFAT5):c.2101A>G (p.Ile701Val) rs768765670 0.00002
NM_138713.4(NFAT5):c.2216T>G (p.Ile739Arg) rs747056408 0.00002
NM_138713.4(NFAT5):c.2258C>T (p.Thr753Ile) rs377471401 0.00002
NM_138713.4(NFAT5):c.2736C>T (p.Ala912=) rs756137446 0.00002
NM_138713.4(NFAT5):c.3106C>G (p.Gln1036Glu) rs370973558 0.00002
NM_138713.4(NFAT5):c.3158A>G (p.Asn1053Ser) rs200419455 0.00002
NM_138713.4(NFAT5):c.327C>T (p.Thr109=) rs753363604 0.00002
NM_138713.4(NFAT5):c.3292G>A (p.Asp1098Asn) rs373843815 0.00002
NM_138713.4(NFAT5):c.3321A>G (p.Gln1107=) rs764868144 0.00002
NM_138713.4(NFAT5):c.3341C>T (p.Pro1114Leu) rs1011632849 0.00002
NM_138713.4(NFAT5):c.3475T>C (p.Phe1159Leu) rs780190833 0.00002
NM_138713.4(NFAT5):c.3546G>A (p.Pro1182=) rs762586717 0.00002
NM_138713.4(NFAT5):c.3769G>A (p.Val1257Ile) rs1378468301 0.00002
NM_138713.4(NFAT5):c.3816G>A (p.Gln1272=) rs777901572 0.00002
NM_138713.4(NFAT5):c.3843A>G (p.Gln1281=) rs373835590 0.00002
NM_138713.4(NFAT5):c.3892G>T (p.Ala1298Ser) rs771597579 0.00002
NM_138713.4(NFAT5):c.3946A>G (p.Met1316Val) rs534769846 0.00002
NM_138713.4(NFAT5):c.4498G>A (p.Glu1500Lys) rs758828053 0.00002
NM_138713.4(NFAT5):c.999A>C (p.Thr333=) rs747694582 0.00002
NM_138713.4(NFAT5):c.1005+18C>T rs761214173 0.00001
NM_138713.4(NFAT5):c.1005+7A>G rs773641818 0.00001
NM_138713.4(NFAT5):c.1006-17A>G rs1322568381 0.00001
NM_138713.4(NFAT5):c.1019A>G (p.Asn340Ser) rs753689210 0.00001
NM_138713.4(NFAT5):c.1028T>C (p.Val343Ala) rs192156074 0.00001
NM_138713.4(NFAT5):c.1068G>A (p.Val356=) rs747531388 0.00001
NM_138713.4(NFAT5):c.1074A>C (p.Pro358=) rs1224461973 0.00001
NM_138713.4(NFAT5):c.1140T>C (p.Ile380=) rs2543986547 0.00001
NM_138713.4(NFAT5):c.1164C>T (p.Val388=) rs776939678 0.00001
NM_138713.4(NFAT5):c.1196+7A>G rs2035851182 0.00001
NM_138713.4(NFAT5):c.1197G>A (p.Ala399=) rs767475443 0.00001
NM_138713.4(NFAT5):c.1198G>A (p.Val400Met) rs1439351614 0.00001
NM_138713.4(NFAT5):c.1207G>A (p.Val403Ile) rs765182239 0.00001
NM_138713.4(NFAT5):c.1279A>G (p.Thr427Ala) rs756830190 0.00001
NM_138713.4(NFAT5):c.1291T>C (p.Leu431=) rs756626177 0.00001
NM_138713.4(NFAT5):c.1360A>G (p.Ile454Val) rs745394749 0.00001
NM_138713.4(NFAT5):c.1369+17G>A rs775532252 0.00001
NM_138713.4(NFAT5):c.1393A>G (p.Ile465Val) rs762792190 0.00001
NM_138713.4(NFAT5):c.1434A>G (p.Glu478=) rs199599792 0.00001
NM_138713.4(NFAT5):c.1435G>A (p.Glu479Lys) rs760226441 0.00001
NM_138713.4(NFAT5):c.1439A>T (p.Glu480Val) rs2036561989 0.00001
NM_138713.4(NFAT5):c.1443G>C (p.Val481=) rs1455259492 0.00001
NM_138713.4(NFAT5):c.1490A>G (p.Gln497Arg) rs1321905353 0.00001
NM_138713.4(NFAT5):c.1499T>C (p.Val500Ala) rs747215016 0.00001
NM_138713.4(NFAT5):c.1504+19G>A rs1401183451 0.00001
NM_138713.4(NFAT5):c.1504+20G>A rs761618381 0.00001
NM_138713.4(NFAT5):c.1504+9G>A rs768096607 0.00001
NM_138713.4(NFAT5):c.1527A>G (p.Glu509=) rs1274668418 0.00001
NM_138713.4(NFAT5):c.1545A>G (p.Glu515=) rs1405287120 0.00001
NM_138713.4(NFAT5):c.1612G>A (p.Val538Met) rs2544131447 0.00001
NM_138713.4(NFAT5):c.1632A>G (p.Val544=) rs753703839 0.00001
NM_138713.4(NFAT5):c.1653T>A (p.Ser551=) rs1195133210 0.00001
NM_138713.4(NFAT5):c.1665A>G (p.Gln555=) rs967432697 0.00001
NM_138713.4(NFAT5):c.1691-20A>G rs757045798 0.00001
NM_138713.4(NFAT5):c.1691-2A>T rs374351352 0.00001
NM_138713.4(NFAT5):c.1745G>A (p.Arg582Lys) rs1234391444 0.00001
NM_138713.4(NFAT5):c.1768A>G (p.Met590Val) rs1273292190 0.00001
NM_138713.4(NFAT5):c.1775-8A>G rs923852685 0.00001
NM_138713.4(NFAT5):c.1895C>T (p.Ala632Val) rs773266542 0.00001
NM_138713.4(NFAT5):c.1909T>G (p.Ser637Ala) rs760675028 0.00001
NM_138713.4(NFAT5):c.1911C>T (p.Ser637=) rs766360508 0.00001
NM_138713.4(NFAT5):c.1912A>G (p.Thr638Ala) rs753691324 0.00001
NM_138713.4(NFAT5):c.1923+10A>G rs764966657 0.00001
NM_138713.4(NFAT5):c.1929A>G (p.Thr643=) rs749465771 0.00001
NM_138713.4(NFAT5):c.1945A>G (p.Thr649Ala) rs2037554143 0.00001
NM_138713.4(NFAT5):c.1966A>G (p.Ile656Val) rs2544227387 0.00001
NM_138713.4(NFAT5):c.1982G>A (p.Gly661Glu) rs142214587 0.00001
NM_138713.4(NFAT5):c.1996T>C (p.Ser666Pro) rs1182167500 0.00001
NM_138713.4(NFAT5):c.2000C>T (p.Ser667Leu) rs369433506 0.00001
NM_138713.4(NFAT5):c.2030A>G (p.Asn677Ser) rs1398457637 0.00001
NM_138713.4(NFAT5):c.2046G>A (p.Gln682=) rs1050946292 0.00001
NM_138713.4(NFAT5):c.2135C>T (p.Ala712Val) rs1441808759 0.00001
NM_138713.4(NFAT5):c.2179A>G (p.Thr727Ala) rs756590842 0.00001
NM_138713.4(NFAT5):c.2181A>G (p.Thr727=) rs780543657 0.00001
NM_138713.4(NFAT5):c.2242A>G (p.Asn748Asp) rs762700463 0.00001
NM_138713.4(NFAT5):c.2253A>G (p.Gln751=) rs2037570552 0.00001
NM_138713.4(NFAT5):c.2280G>A (p.Gln760=) rs1474965026 0.00001
NM_138713.4(NFAT5):c.2285C>T (p.Ser762Leu) rs750941750 0.00001
NM_138713.4(NFAT5):c.2341C>G (p.Pro781Ala) rs535022014 0.00001
NM_138713.4(NFAT5):c.2360G>A (p.Ser787Asn) rs1328674662 0.00001
NM_138713.4(NFAT5):c.2380C>G (p.Gln794Glu) rs757333746 0.00001
NM_138713.4(NFAT5):c.2435G>C (p.Ser812Thr) rs903831612 0.00001
NM_138713.4(NFAT5):c.2510A>G (p.Asn837Ser) rs201942744 0.00001
NM_138713.4(NFAT5):c.2525A>G (p.Glu842Gly) rs764438107 0.00001
NM_138713.4(NFAT5):c.2542A>G (p.Ile848Val) rs1442970520 0.00001
NM_138713.4(NFAT5):c.2589G>A (p.Met863Ile) rs1391814950 0.00001
NM_138713.4(NFAT5):c.2672A>C (p.Glu891Ala) rs759052772 0.00001
NM_138713.4(NFAT5):c.2680T>C (p.Leu894=) rs763446860 0.00001
NM_138713.4(NFAT5):c.2690A>G (p.Gln897Arg) rs762105144 0.00001
NM_138713.4(NFAT5):c.2740A>G (p.Met914Val) rs1597571430 0.00001
NM_138713.4(NFAT5):c.2797T>A (p.Leu933Ile) rs2544237846 0.00001
NM_138713.4(NFAT5):c.2804C>T (p.Pro935Leu) rs908260075 0.00001
NM_138713.4(NFAT5):c.2810C>T (p.Thr937Ile) rs770624275 0.00001
NM_138713.4(NFAT5):c.2823T>C (p.Asn941=) rs772261935 0.00001
NM_138713.4(NFAT5):c.2834A>G (p.Gln945Arg) rs769410314 0.00001
NM_138713.4(NFAT5):c.2840C>T (p.Ser947Leu) rs773363517 0.00001
NM_138713.4(NFAT5):c.2866A>G (p.Met956Val) rs1187678352 0.00001
NM_138713.4(NFAT5):c.288C>T (p.Gly96=) rs750127974 0.00001
NM_138713.4(NFAT5):c.2929C>T (p.Pro977Ser) rs369476982 0.00001
NM_138713.4(NFAT5):c.2938T>C (p.Ser980Pro) rs376327806 0.00001
NM_138713.4(NFAT5):c.294T>C (p.Ala98=) rs2035466318 0.00001
NM_138713.4(NFAT5):c.2981C>A (p.Thr994Asn) rs779718608 0.00001
NM_138713.4(NFAT5):c.2995A>G (p.Met999Val) rs748586977 0.00001
NM_138713.4(NFAT5):c.3042A>G (p.Gln1014=) rs759482158 0.00001
NM_138713.4(NFAT5):c.3055C>G (p.Gln1019Glu) rs764119895 0.00001
NM_138713.4(NFAT5):c.3057G>A (p.Gln1019=) rs2037605686 0.00001
NM_138713.4(NFAT5):c.3092A>T (p.His1031Leu) rs1235407076 0.00001
NM_138713.4(NFAT5):c.3117T>A (p.Val1039=) rs1464661641 0.00001
NM_138713.4(NFAT5):c.3261C>T (p.Ala1087=) rs1419171877 0.00001
NM_138713.4(NFAT5):c.3278A>G (p.Gln1093Arg) rs1274697643 0.00001
NM_138713.4(NFAT5):c.3302A>G (p.Asn1101Ser) rs759115511 0.00001
NM_138713.4(NFAT5):c.3346C>T (p.Pro1116Ser) rs1346250715 0.00001
NM_138713.4(NFAT5):c.3349A>G (p.Ile1117Val) rs746229892 0.00001
NM_138713.4(NFAT5):c.3352G>A (p.Val1118Ile) rs2037622928 0.00001
NM_138713.4(NFAT5):c.3382G>A (p.Glu1128Lys) rs1246017789 0.00001
NM_138713.4(NFAT5):c.3400A>G (p.Met1134Val) rs976011406 0.00001
NM_138713.4(NFAT5):c.346A>G (p.Thr116Ala) rs1042925684 0.00001
NM_138713.4(NFAT5):c.3490C>T (p.Pro1164Ser) rs779138756 0.00001
NM_138713.4(NFAT5):c.3497A>G (p.Asn1166Ser) rs776590259 0.00001
NM_138713.4(NFAT5):c.349G>A (p.Asp117Asn) rs1278261387 0.00001
NM_138713.4(NFAT5):c.3525A>G (p.Gln1175=) rs2037631750 0.00001
NM_138713.4(NFAT5):c.3574T>C (p.Ser1192Pro) rs937802712 0.00001
NM_138713.4(NFAT5):c.3616A>G (p.Ile1206Val) rs751031946 0.00001
NM_138713.4(NFAT5):c.3663C>T (p.Pro1221=) rs1015193940 0.00001
NM_138713.4(NFAT5):c.3669G>A (p.Gln1223=) rs2037639164 0.00001
NM_138713.4(NFAT5):c.3678A>G (p.Leu1226=) rs758471464 0.00001
NM_138713.4(NFAT5):c.3694G>A (p.Ala1232Thr) rs2544248611 0.00001
NM_138713.4(NFAT5):c.3701G>A (p.Gly1234Asp) rs2037640263 0.00001
NM_138713.4(NFAT5):c.3705C>T (p.Ser1235=) rs1177320299 0.00001
NM_138713.4(NFAT5):c.372G>C (p.Glu124Asp) rs200580359 0.00001
NM_138713.4(NFAT5):c.3786C>T (p.Asn1262=) rs148486602 0.00001
NM_138713.4(NFAT5):c.3824A>G (p.Gln1275Arg) rs1471007475 0.00001
NM_138713.4(NFAT5):c.3889A>G (p.Met1297Val) rs760054297 0.00001
NM_138713.4(NFAT5):c.3893C>T (p.Ala1298Val) rs2037653444 0.00001
NM_138713.4(NFAT5):c.3894G>A (p.Ala1298=) rs528549177 0.00001
NM_138713.4(NFAT5):c.3989A>G (p.Gln1330Arg) rs778687177 0.00001
NM_138713.4(NFAT5):c.3990A>G (p.Gln1330=) rs1378533009 0.00001
NM_138713.4(NFAT5):c.4051G>A (p.Val1351Ile) rs2037660998 0.00001
NM_138713.4(NFAT5):c.4078A>C (p.Thr1360Pro) rs2037661756 0.00001
NM_138713.4(NFAT5):c.4086G>A (p.Ser1362=) rs900852295 0.00001
NM_138713.4(NFAT5):c.4116C>T (p.Ser1372=) rs998259044 0.00001
NM_138713.4(NFAT5):c.4206G>T (p.Leu1402Phe) rs199525186 0.00001
NM_138713.4(NFAT5):c.4212C>T (p.Thr1404=) rs545266587 0.00001
NM_138713.4(NFAT5):c.4228G>C (p.Asp1410His) rs1198206477 0.00001
NM_138713.4(NFAT5):c.4244C>G (p.Pro1415Arg) rs1225190008 0.00001
NM_138713.4(NFAT5):c.4333G>A (p.Gly1445Arg) rs1284326977 0.00001
NM_138713.4(NFAT5):c.4342A>G (p.Met1448Val) rs760790791 0.00001
NM_138713.4(NFAT5):c.4371A>C (p.Ser1457=) rs775564054 0.00001
NM_138713.4(NFAT5):c.437C>T (p.Thr146Ile) rs143475718 0.00001
NM_138713.4(NFAT5):c.4388G>C (p.Gly1463Ala) rs151172191 0.00001
NM_138713.4(NFAT5):c.4392G>A (p.Met1464Ile) rs188500009 0.00001
NM_138713.4(NFAT5):c.4410A>G (p.Gln1470=) rs982512384 0.00001
NM_138713.4(NFAT5):c.4414+7A>G rs546753827 0.00001
NM_138713.4(NFAT5):c.4415-6C>T rs774397341 0.00001
NM_138713.4(NFAT5):c.4434C>T (p.Thr1478=) rs373621668 0.00001
NM_138713.4(NFAT5):c.4471A>G (p.Ile1491Val) rs753321494 0.00001
NM_138713.4(NFAT5):c.4497C>T (p.Asn1499=) rs753187482 0.00001
NM_138713.4(NFAT5):c.4507C>A (p.Pro1503Thr) rs778114906 0.00001
NM_138713.4(NFAT5):c.4513G>A (p.Val1505Met) rs140045591 0.00001
NM_138713.4(NFAT5):c.453A>G (p.Pro151=) rs764631262 0.00001
NM_138713.4(NFAT5):c.4545G>T (p.Glu1515Asp) rs745971118 0.00001
NM_138713.4(NFAT5):c.4554A>G (p.Pro1518=) rs1233855173 0.00001
NM_138713.4(NFAT5):c.4574C>T (p.Thr1525Ile) rs772080402 0.00001
NM_138713.4(NFAT5):c.461C>T (p.Pro154Leu) rs1029531992 0.00001
NM_138713.4(NFAT5):c.4622A>G (p.Gln1541Arg) rs193135386 0.00001
NM_138713.4(NFAT5):c.4643C>G (p.Ser1548Cys) rs1321523625 0.00001
NM_138713.4(NFAT5):c.468G>A (p.Arg156=) rs1372359943 0.00001
NM_138713.4(NFAT5):c.483C>T (p.Tyr161=) rs1481354524 0.00001
NM_138713.4(NFAT5):c.484A>G (p.Ile162Val) rs781587305 0.00001
NM_138713.4(NFAT5):c.495A>G (p.Pro165=) rs769953709 0.00001
NM_138713.4(NFAT5):c.507G>A (p.Leu169=) rs1264938672 0.00001
NM_138713.4(NFAT5):c.540G>A (p.Glu180=) rs2035480397 0.00001
NM_138713.4(NFAT5):c.542G>A (p.Gly181Glu) rs773069993 0.00001
NM_138713.4(NFAT5):c.605G>A (p.Ser202Asn) rs752137755 0.00001
NM_138713.4(NFAT5):c.610A>G (p.Met204Val) rs752063700 0.00001
NM_138713.4(NFAT5):c.642G>A (p.Glu214=) rs1187292708 0.00001
NM_138713.4(NFAT5):c.666A>G (p.Arg222=) rs1186884192 0.00001
NM_138713.4(NFAT5):c.692A>G (p.Lys231Arg) rs1170182479 0.00001
NM_138713.4(NFAT5):c.735C>T (p.Ala245=) rs746931663 0.00001
NM_138713.4(NFAT5):c.779C>T (p.Thr260Met) rs928159727 0.00001
NM_138713.4(NFAT5):c.780G>A (p.Thr260=) rs1435158275 0.00001
NM_138713.4(NFAT5):c.809A>G (p.Asn270Ser) rs1391597908 0.00001
NM_138713.4(NFAT5):c.813-5C>G rs773730369 0.00001
NM_138713.4(NFAT5):c.856A>G (p.Met286Val) rs2035750914 0.00001
NM_138713.4(NFAT5):c.870A>G (p.Gln290=) rs530092980 0.00001
NM_138713.4(NFAT5):c.878T>C (p.Val293Ala) rs1457665601 0.00001
NM_138713.4(NFAT5):c.939G>A (p.Arg313=) rs779894815 0.00001
NM_138713.4(NFAT5):c.948T>C (p.Thr316=) rs1278786133 0.00001
NC_000016.9:g.(?_68679283)_(72146396_?)del
NC_000016.9:g.(?_69680960)_(72146396_?)dup
NC_000016.9:g.(?_69693610)_(69729274_?)dup
NC_000016.9:g.(?_69711086)_(69729274_?)dup
NC_000016.9:g.(?_69718770)_(69718893_?)del
NC_000016.9:g.(?_69728151)_(69731549_?)del
NM_000606.3(C8G):c.93_99dup (p.Ser34fs) rs758635843
NM_001242.5(CD27):c.250dup (p.Cys84fs) rs1592117677
NM_006060.6(IKZF1):c.476A>G (p.Asn159Ser) rs374333820
NM_018990.4(SASH3):c.442+3G>A rs2124081404
NM_024580.6(EFL1):c.2041A>G (p.Ile681Val) rs1595945072
NM_030930.4(UNC93B1):c.1632_1644delinsCAACTCGGAG (p.Glu544_Asp548delinsAspAsnSerGlu)
NM_138713.4(NFAT5):c.1005+14_1005+17del rs751067427
NM_138713.4(NFAT5):c.1005+1G>A rs2151633048
NM_138713.4(NFAT5):c.1005+3A>G rs2151633054
NM_138713.4(NFAT5):c.1005+8_1005+16dup rs1017724743
NM_138713.4(NFAT5):c.1006-12_1006-4dup
NM_138713.4(NFAT5):c.1027G>A (p.Val343Ile) rs2543985769
NM_138713.4(NFAT5):c.1052A>G (p.Asn351Ser) rs2543985987
NM_138713.4(NFAT5):c.1093T>C (p.Cys365Arg) rs1405963728
NM_138713.4(NFAT5):c.1095C>T (p.Cys365=) rs2035848124
NM_138713.4(NFAT5):c.1109G>A (p.Arg370Gln) rs2543986325
NM_138713.4(NFAT5):c.1110A>C (p.Arg370=) rs1158070271
NM_138713.4(NFAT5):c.1147ACT[1] (p.Thr384del) rs2151636834
NM_138713.4(NFAT5):c.1162G>A (p.Val388Ile) rs2035850236
NM_138713.4(NFAT5):c.1197-10del rs746550082
NM_138713.4(NFAT5):c.1197-10dup rs746550082
NM_138713.4(NFAT5):c.1197-13_1197-10dup rs746550082
NM_138713.4(NFAT5):c.1197-3T>C rs1597488810
NM_138713.4(NFAT5):c.1197G>C (p.Ala399=) rs767475443
NM_138713.4(NFAT5):c.1233T>G (p.Ala411=) rs2544016925
NM_138713.4(NFAT5):c.1239C>G (p.Val413=) rs751126952
NM_138713.4(NFAT5):c.1249A>G (p.Ile417Val) rs2544017087
NM_138713.4(NFAT5):c.1271A>G (p.Lys424Arg)
NM_138713.4(NFAT5):c.1301G>A (p.Arg434Gln) rs2036046279
NM_138713.4(NFAT5):c.1305T>A (p.Val435=) rs2544017492
NM_138713.4(NFAT5):c.1333T>G (p.Leu445Val)
NM_138713.4(NFAT5):c.1369+16C>T rs370755900
NM_138713.4(NFAT5):c.1370-13T>C rs2151671106
NM_138713.4(NFAT5):c.1370-5C>T rs2151671127
NM_138713.4(NFAT5):c.1389A>G (p.Pro463=) rs535074006
NM_138713.4(NFAT5):c.1413T>C (p.His471=) rs761602373
NM_138713.4(NFAT5):c.1428A>G (p.Lys476=) rs2151671248
NM_138713.4(NFAT5):c.1433A>C (p.Glu478Ala) rs929724422
NM_138713.4(NFAT5):c.1450A>G (p.Ile484Val) rs2544088815
NM_138713.4(NFAT5):c.1455C>G (p.Gly485=) rs2544088907
NM_138713.4(NFAT5):c.1504+15T>C
NM_138713.4(NFAT5):c.1504+17G>A rs2036564992
NM_138713.4(NFAT5):c.1504+8C>G rs771199145
NM_138713.4(NFAT5):c.1505-16_1505-15insGT rs3217434
NM_138713.4(NFAT5):c.1505-6A>G rs1314082994
NM_138713.4(NFAT5):c.1511A>G (p.Asn504Ser) rs751885798
NM_138713.4(NFAT5):c.1511A>T (p.Asn504Ile) rs751885798
NM_138713.4(NFAT5):c.1524A>G (p.Ser508=) rs2151671782
NM_138713.4(NFAT5):c.1539T>C (p.Asp513=) rs745964993
NM_138713.4(NFAT5):c.1540A>C (p.Met514Leu) rs756169271
NM_138713.4(NFAT5):c.1557+12G>A rs2544091457
NM_138713.4(NFAT5):c.1557+13del rs1243614989
NM_138713.4(NFAT5):c.1557+14T>G rs200253876
NM_138713.4(NFAT5):c.1557+20del rs3217435
NM_138713.4(NFAT5):c.1557+20dup rs3217435
NM_138713.4(NFAT5):c.1557+5A>T rs2036573840
NM_138713.4(NFAT5):c.1558-16C>T rs2544130771
NM_138713.4(NFAT5):c.1569T>C (p.Ile523=) rs2151685989
NM_138713.4(NFAT5):c.1576G>A (p.Val526Ile) rs2544131016
NM_138713.4(NFAT5):c.1595A>C (p.Gln532Pro) rs758346739
NM_138713.4(NFAT5):c.1595A>T (p.Gln532Leu) rs758346739
NM_138713.4(NFAT5):c.1611T>C (p.Pro537=) rs2544131422
NM_138713.4(NFAT5):c.1614G>T (p.Val538=)
NM_138713.4(NFAT5):c.1639A>G (p.Asn547Asp)
NM_138713.4(NFAT5):c.1655A>G (p.His552Arg) rs2544131820
NM_138713.4(NFAT5):c.1691-16A>C
NM_138713.4(NFAT5):c.1691-3T>C rs1567606090
NM_138713.4(NFAT5):c.1691-6del rs543739817
NM_138713.4(NFAT5):c.1691-6dup rs543739817
NM_138713.4(NFAT5):c.1706T>C (p.Leu569Ser) rs2151702872
NM_138713.4(NFAT5):c.1717G>T (p.Val573Leu) rs1456793859
NM_138713.4(NFAT5):c.1735A>C (p.Ser579Arg)
NM_138713.4(NFAT5):c.1742C>A (p.Ala581Glu)
NM_138713.4(NFAT5):c.1748C>T (p.Pro583Leu) rs2544180721
NM_138713.4(NFAT5):c.1765G>T (p.Ala589Ser) rs1597550230
NM_138713.4(NFAT5):c.1771A>G (p.Lys591Glu) rs1178197549
NM_138713.4(NFAT5):c.1774+7A>G rs2151703042
NM_138713.4(NFAT5):c.1775-18G>C rs377188619
NM_138713.4(NFAT5):c.1775-18G>T rs377188619
NM_138713.4(NFAT5):c.1775-19TG[4] rs757843219
NM_138713.4(NFAT5):c.1775-19TG[6] rs757843219
NM_138713.4(NFAT5):c.1775-20T>C rs200979203
NM_138713.4(NFAT5):c.1775-20T>G rs200979203
NM_138713.4(NFAT5):c.1775-5T>C rs2544220913
NM_138713.4(NFAT5):c.1775-6A>G
NM_138713.4(NFAT5):c.1782A>G (p.Lys594=) rs2037521853
NM_138713.4(NFAT5):c.1791A>G (p.Gly597=) rs2151716345
NM_138713.4(NFAT5):c.1793G>A (p.Cys598Tyr) rs766270692
NM_138713.4(NFAT5):c.1798T>A (p.Leu600Ile) rs2544221181
NM_138713.4(NFAT5):c.1804A>G (p.Lys602Glu)
NM_138713.4(NFAT5):c.1877C>T (p.Thr626Ile) rs2544221800
NM_138713.4(NFAT5):c.1882A>G (p.Met628Val)
NM_138713.4(NFAT5):c.1902A>C (p.Lys634Asn) rs1292308107
NM_138713.4(NFAT5):c.1902A>G (p.Lys634=) rs1292308107
NM_138713.4(NFAT5):c.1904G>C (p.Arg635Thr) rs2151716663
NM_138713.4(NFAT5):c.1904G>T (p.Arg635Ile) rs2151716663
NM_138713.4(NFAT5):c.1912A>T (p.Thr638Ser) rs753691324
NM_138713.4(NFAT5):c.1923+6C>A
NM_138713.4(NFAT5):c.1923+8dup rs2037528426
NM_138713.4(NFAT5):c.1923+9T>A rs2151716729
NM_138713.4(NFAT5):c.1923+9T>C
NM_138713.4(NFAT5):c.1924-4T>G
NM_138713.4(NFAT5):c.1940G>A (p.Gly647Glu) rs2544227225
NM_138713.4(NFAT5):c.1959A>G (p.Leu653=) rs2151718016
NM_138713.4(NFAT5):c.1987G>A (p.Gly663Ser) rs2151718056
NM_138713.4(NFAT5):c.2004A>G (p.Pro668=) rs2544227692
NM_138713.4(NFAT5):c.2007A>G (p.Ser669=) rs1284159327
NM_138713.4(NFAT5):c.2023T>G (p.Ser675Ala) rs1597569091
NM_138713.4(NFAT5):c.2040G>T (p.Gln680His) rs2151718201
NM_138713.4(NFAT5):c.2042A>G (p.Gln681Arg) rs2151718207
NM_138713.4(NFAT5):c.2046G>C (p.Gln682His) rs1050946292
NM_138713.4(NFAT5):c.2049T>G (p.Ile683Met)
NM_138713.4(NFAT5):c.2079G>T (p.Leu693=) rs144343499
NM_138713.4(NFAT5):c.2092A>T (p.Thr698Ser)
NM_138713.4(NFAT5):c.2106A>G (p.Ser702=) rs748261252
NM_138713.4(NFAT5):c.2113G>C (p.Gly705Arg) rs151223997
NM_138713.4(NFAT5):c.2118T>A (p.Thr706=) rs1330579544
NM_138713.4(NFAT5):c.2124A>G (p.Pro708=)
NM_138713.4(NFAT5):c.2125G>A (p.Ala709Thr) rs2544229291
NM_138713.4(NFAT5):c.2149C>T (p.Pro717Ser) rs2151718556
NM_138713.4(NFAT5):c.2157C>A (p.Ser719Arg) rs531151605
NM_138713.4(NFAT5):c.2157C>T (p.Ser719=) rs531151605
NM_138713.4(NFAT5):c.2169G>A (p.Leu723=) rs2544229873
NM_138713.4(NFAT5):c.2183A>G (p.Gln728Arg)
NM_138713.4(NFAT5):c.2190G>A (p.Gln730=)
NM_138713.4(NFAT5):c.2201C>G (p.Thr734Ser)
NM_138713.4(NFAT5):c.2207C>G (p.Ser736Cys) rs772347684
NM_138713.4(NFAT5):c.2209A>G (p.Arg737Gly)
NM_138713.4(NFAT5):c.2222A>G (p.Gln741Arg) rs2037568833
NM_138713.4(NFAT5):c.2224T>A (p.Ser742Thr) rs2544230616
NM_138713.4(NFAT5):c.2239G>A (p.Val747Ile)
NM_138713.4(NFAT5):c.2247G>T (p.Leu749Phe)
NM_138713.4(NFAT5):c.2260G>A (p.Glu754Lys) rs2544231222
NM_138713.4(NFAT5):c.2262G>A (p.Glu754=)
NM_138713.4(NFAT5):c.2268ACA[2] (p.Gln761del) rs768126058
NM_138713.4(NFAT5):c.2283G>A (p.Gln761=) rs2544231465
NM_138713.4(NFAT5):c.2320C>A (p.Gln774Lys) rs2151719034
NM_138713.4(NFAT5):c.2348C>T (p.Pro783Leu) rs2544232157
NM_138713.4(NFAT5):c.2349A>C (p.Pro783=)
NM_138713.4(NFAT5):c.2351A>T (p.Asn784Ile)
NM_138713.4(NFAT5):c.2355T>C (p.Ser785=)
NM_138713.4(NFAT5):c.2356G>A (p.Val786Met) rs2544232268
NM_138713.4(NFAT5):c.2361T>G (p.Ser787Arg) rs2037574787
NM_138713.4(NFAT5):c.2373T>C (p.Asn791=) rs1455036781
NM_138713.4(NFAT5):c.2380C>A (p.Gln794Lys) rs757333746
NM_138713.4(NFAT5):c.2414C>G (p.Thr805Ser)
NM_138713.4(NFAT5):c.2438T>C (p.Val813Ala) rs1597570550
NM_138713.4(NFAT5):c.2448C>A (p.Val816=) rs2151719300
NM_138713.4(NFAT5):c.2451A>G (p.Gln817=) rs770299334
NM_138713.4(NFAT5):c.2461G>C (p.Glu821Gln) rs772872180
NM_138713.4(NFAT5):c.2484A>G (p.Ser828=)
NM_138713.4(NFAT5):c.2501C>T (p.Pro834Leu) rs2151719367
NM_138713.4(NFAT5):c.2504A>T (p.Asp835Val) rs1335921240
NM_138713.4(NFAT5):c.2530C>T (p.Leu844Phe) rs781315982
NM_138713.4(NFAT5):c.2533A>C (p.Ser845Arg) rs2151719456
NM_138713.4(NFAT5):c.2540A>C (p.Asp847Ala) rs2151719465
NM_138713.4(NFAT5):c.2562A>G (p.Gln854=) rs1567613579
NM_138713.4(NFAT5):c.2585G>T (p.Gly862Val) rs768808566
NM_138713.4(NFAT5):c.2610A>G (p.Thr870=) rs2037584292
NM_138713.4(NFAT5):c.2613C>T (p.Val871=) rs1299052323
NM_138713.4(NFAT5):c.2624C>A (p.Pro875Gln) rs746671507
NM_138713.4(NFAT5):c.2660A>G (p.His887Arg)
NM_138713.4(NFAT5):c.2666A>G (p.Gln889Arg) rs2037586716
NM_138713.4(NFAT5):c.2678C>T (p.Thr893Met) rs149255851
NM_138713.4(NFAT5):c.2679G>C (p.Thr893=)
NM_138713.4(NFAT5):c.2684C>A (p.Ser895Tyr) rs764512084
NM_138713.4(NFAT5):c.2691A>G (p.Gln897=) rs1567613850
NM_138713.4(NFAT5):c.2691_2693del (p.Gln906del) rs542353221
NM_138713.4(NFAT5):c.2694GCA[3] (p.Gln904_Gln906del) rs369235958
NM_138713.4(NFAT5):c.2694GCA[4] (p.Gln905_Gln906del) rs369235958
NM_138713.4(NFAT5):c.2694GCA[5] (p.Gln906del) rs369235958
NM_138713.4(NFAT5):c.2694GCA[7] (p.Gln906dup) rs369235958
NM_138713.4(NFAT5):c.2694GCA[8] (p.Gln906_Val907insGlnGln) rs369235958
NM_138713.4(NFAT5):c.2697G>A (p.Gln899=) rs2544236515
NM_138713.4(NFAT5):c.2708A>C (p.Gln903Pro)
NM_138713.4(NFAT5):c.2712_2714dup (p.Gln906_Val907insGln) rs760968027
NM_138713.4(NFAT5):c.2727A>C (p.Glu909Asp) rs2037590015
NM_138713.4(NFAT5):c.2731T>G (p.Ser911Ala) rs767567326
NM_138713.4(NFAT5):c.2742G>A (p.Met914Ile) rs752600679
NM_138713.4(NFAT5):c.2746A>G (p.Met916Val) rs2151719975
NM_138713.4(NFAT5):c.2752A>T (p.Met918Leu) rs2544237212
NM_138713.4(NFAT5):c.2779G>A (p.Ala927Thr) rs952352835
NM_138713.4(NFAT5):c.2791T>A (p.Ser931Thr) rs1304385326
NM_138713.4(NFAT5):c.2791T>G (p.Ser931Ala) rs1304385326
NM_138713.4(NFAT5):c.2793A>G (p.Ser931=) rs2037592859
NM_138713.4(NFAT5):c.2796G>A (p.Glu932=)
NM_138713.4(NFAT5):c.2806T>G (p.Ser936Ala) rs746725926
NM_138713.4(NFAT5):c.2812G>A (p.Ala938Thr) rs1309106639
NM_138713.4(NFAT5):c.2853G>A (p.Gln951=) rs2544238304
NM_138713.4(NFAT5):c.2861C>T (p.Ser954Phe)
NM_138713.4(NFAT5):c.2867T>C (p.Met956Thr) rs2544238428
NM_138713.4(NFAT5):c.2882C>G (p.Ser961Cys) rs2544238684
NM_138713.4(NFAT5):c.2884A>G (p.Thr962Ala) rs932232039
NM_138713.4(NFAT5):c.2888A>T (p.Asn963Ile)
NM_138713.4(NFAT5):c.289G>A (p.Gly97Ser) rs755756855
NM_138713.4(NFAT5):c.2907G>T (p.Gln969His)
NM_138713.4(NFAT5):c.2916G>A (p.Leu972=) rs2151720308
NM_138713.4(NFAT5):c.2926C>T (p.Pro976Ser) rs2151720335
NM_138713.4(NFAT5):c.2926CCT[1] (p.Pro977del) rs764212079
NM_138713.4(NFAT5):c.2942G>T (p.Gly981Val) rs2544239288
NM_138713.4(NFAT5):c.2954C>G (p.Ser985Cys) rs2544239399
NM_138713.4(NFAT5):c.2955T>G (p.Ser985=) rs2037599925
NM_138713.4(NFAT5):c.2958A>C (p.Thr986=) rs2151720409
NM_138713.4(NFAT5):c.2958A>G (p.Thr986=) rs2151720409
NM_138713.4(NFAT5):c.2967A>G (p.Thr989=) rs2151720439
NM_138713.4(NFAT5):c.2970G>A (p.Gln990=) rs2151720442
NM_138713.4(NFAT5):c.2972A>G (p.Gln991Arg)
NM_138713.4(NFAT5):c.2982C>G (p.Thr994=)
NM_138713.4(NFAT5):c.2983C>T (p.Pro995Ser) rs112392728
NM_138713.4(NFAT5):c.2984C>T (p.Pro995Leu)
NM_138713.4(NFAT5):c.3006A>G (p.Thr1002=)
NM_138713.4(NFAT5):c.3013T>A (p.Ser1005Thr) rs2151720583
NM_138713.4(NFAT5):c.3018A>G (p.Gly1006=) rs2544240256
NM_138713.4(NFAT5):c.3023G>A (p.Gly1008Glu) rs2544240338
NM_138713.4(NFAT5):c.3035G>A (p.Gly1012Glu) rs2151720658
NM_138713.4(NFAT5):c.3042A>C (p.Gln1014His) rs759482158
NM_138713.4(NFAT5):c.3046_3048del (p.Lys1016del) rs776838710
NM_138713.4(NFAT5):c.3048A>G (p.Lys1016=)
NM_138713.4(NFAT5):c.3048A>T (p.Lys1016Asn) rs2037605270
NM_138713.4(NFAT5):c.3058A>G (p.Asn1020Asp) rs2544240729
NM_138713.4(NFAT5):c.3064G>A (p.Val1022Ile)
NM_138713.4(NFAT5):c.3076A>G (p.Met1026Val) rs1046212103
NM_138713.4(NFAT5):c.3083A>G (p.Gln1028Arg)
NM_138713.4(NFAT5):c.3085A>C (p.Met1029Leu) rs755846884
NM_138713.4(NFAT5):c.3090A>G (p.Gln1030=) rs2037607628
NM_138713.4(NFAT5):c.3092A>G (p.His1031Arg)
NM_138713.4(NFAT5):c.3097G>A (p.Gly1033Arg) rs1376656674
NM_138713.4(NFAT5):c.3101A>G (p.Asp1034Gly) rs1302095085
NM_138713.4(NFAT5):c.3108A>T (p.Gln1036His) rs2151720870
NM_138713.4(NFAT5):c.3121C>T (p.Leu1041Phe) rs2544241657
NM_138713.4(NFAT5):c.3126T>C (p.Phe1042=) rs779524333
NM_138713.4(NFAT5):c.3133A>G (p.Thr1045Ala)
NM_138713.4(NFAT5):c.3142A>T (p.Met1048Leu) rs2544242001
NM_138713.4(NFAT5):c.3155A>G (p.Gln1052Arg) rs1555534626
NM_138713.4(NFAT5):c.3162T>G (p.Ser1054Arg) rs1567614729
NM_138713.4(NFAT5):c.3176A>G (p.Gln1059Arg) rs761664426
NM_138713.4(NFAT5):c.3186T>C (p.Gly1062=) rs1196767097
NM_138713.4(NFAT5):c.3199G>A (p.Gly1067Arg) rs2544242652
NM_138713.4(NFAT5):c.3200G>A (p.Gly1067Glu) rs750268591
NM_138713.4(NFAT5):c.320G>A (p.Ser107Asn)
NM_138713.4(NFAT5):c.3221A>G (p.Gln1074Arg) rs2037615413
NM_138713.4(NFAT5):c.3222A>C (p.Gln1074His) rs754574529
NM_138713.4(NFAT5):c.3243G>C (p.Gln1081His) rs758918416
NM_138713.4(NFAT5):c.3253T>G (p.Ser1085Ala) rs2151721303
NM_138713.4(NFAT5):c.3257A>G (p.Gln1086Arg) rs2037616903
NM_138713.4(NFAT5):c.3259G>T (p.Ala1087Ser) rs1303798077
NM_138713.4(NFAT5):c.325A>G (p.Thr109Ala) rs2035467918
NM_138713.4(NFAT5):c.3264A>G (p.Gln1088=) rs746061348
NM_138713.4(NFAT5):c.3267T>G (p.Leu1089=) rs2151721366
NM_138713.4(NFAT5):c.326C>T (p.Thr109Ile) rs2151621305
NM_138713.4(NFAT5):c.3322G>A (p.Gly1108Ser)
NM_138713.4(NFAT5):c.3326C>T (p.Ser1109Phe) rs2544244297
NM_138713.4(NFAT5):c.3336T>C (p.His1112=) rs2544244459
NM_138713.4(NFAT5):c.3338G>A (p.Ser1113Asn)
NM_138713.4(NFAT5):c.3378C>T (p.Ser1126=) rs2151721671
NM_138713.4(NFAT5):c.3381T>C (p.Ser1127=) rs2544245041
NM_138713.4(NFAT5):c.3396T>C (p.Pro1132=) rs1184516308
NM_138713.4(NFAT5):c.339C>T (p.Thr113=) rs2151621367
NM_138713.4(NFAT5):c.341C>T (p.Ser114Leu) rs200844772
NM_138713.4(NFAT5):c.3421A>G (p.Ile1141Val)
NM_138713.4(NFAT5):c.3433C>A (p.Gln1145Lys) rs2544245665
NM_138713.4(NFAT5):c.3436G>A (p.Gly1146Ser) rs2151721835
NM_138713.4(NFAT5):c.3441T>C (p.Ser1147=)
NM_138713.4(NFAT5):c.3460C>G (p.Gln1154Glu) rs2544245962
NM_138713.4(NFAT5):c.3478C>A (p.Leu1160Ile) rs749509432
NM_138713.4(NFAT5):c.3483C>G (p.Ser1161=) rs2037629600
NM_138713.4(NFAT5):c.3485A>T (p.Gln1162Leu) rs550669855
NM_138713.4(NFAT5):c.348C>A (p.Thr116=) rs2035469289
NM_138713.4(NFAT5):c.348C>T (p.Thr116=)
NM_138713.4(NFAT5):c.3495G>A (p.Met1165Ile) rs770795532
NM_138713.4(NFAT5):c.3515C>T (p.Thr1172Ile)
NM_138713.4(NFAT5):c.351C>T (p.Asp117=) rs201604723
NM_138713.4(NFAT5):c.3524A>C (p.Gln1175Pro) rs1200373139
NM_138713.4(NFAT5):c.3529G>C (p.Ala1177Pro) rs2037631916
NM_138713.4(NFAT5):c.3548A>G (p.Asn1183Ser) rs2151722142
NM_138713.4(NFAT5):c.3557C>T (p.Ser1186Phe) rs2544247017
NM_138713.4(NFAT5):c.3561A>G (p.Pro1187=) rs2151722180
NM_138713.4(NFAT5):c.3570A>G (p.Ser1190=) rs2037634063
NM_138713.4(NFAT5):c.3586C>A (p.Gln1196Lys) rs2544247373
NM_138713.4(NFAT5):c.3587A>G (p.Gln1196Arg) rs1567615808
NM_138713.4(NFAT5):c.3590A>G (p.Gln1197Arg)
NM_138713.4(NFAT5):c.3598T>C (p.Phe1200Leu) rs2151722285
NM_138713.4(NFAT5):c.3609A>G (p.Gln1203=) rs1311069115
NM_138713.4(NFAT5):c.3611C>T (p.Ala1204Val) rs2037636094
NM_138713.4(NFAT5):c.3613C>G (p.Pro1205Ala) rs2544247740
NM_138713.4(NFAT5):c.3615A>C (p.Pro1205=)
NM_138713.4(NFAT5):c.361A>T (p.Met121Leu) rs747303047
NM_138713.4(NFAT5):c.3630G>C (p.Gln1210His) rs1555534920
NM_138713.4(NFAT5):c.3634C>G (p.Pro1212Ala)
NM_138713.4(NFAT5):c.364C>A (p.Gln122Lys)
NM_138713.4(NFAT5):c.3651A>G (p.Glu1217=)
NM_138713.4(NFAT5):c.3652C>T (p.Gln1218Ter) rs1597574388
NM_138713.4(NFAT5):c.3655G>T (p.Ala1219Ser)
NM_138713.4(NFAT5):c.3662C>A (p.Pro1221His) rs1003861783
NM_138713.4(NFAT5):c.3666G>T (p.Pro1222=) rs139231335
NM_138713.4(NFAT5):c.3697C>T (p.Leu1233=) rs2037640122
NM_138713.4(NFAT5):c.3703T>A (p.Ser1235Thr) rs2544248765
NM_138713.4(NFAT5):c.3709C>T (p.Pro1237Ser) rs745802873
NM_138713.4(NFAT5):c.3712C>T (p.Pro1238Ser)
NM_138713.4(NFAT5):c.3722T>C (p.Met1241Thr) rs2544248967
NM_138713.4(NFAT5):c.3725C>T (p.Pro1242Leu) rs2544249042
NM_138713.4(NFAT5):c.3727C>G (p.Gln1243Glu)
NM_138713.4(NFAT5):c.3741A>T (p.Gly1247=) rs2544249209
NM_138713.4(NFAT5):c.3750C>T (p.Phe1250=)
NM_138713.4(NFAT5):c.3753G>A (p.Gln1251=)
NM_138713.4(NFAT5):c.3773C>T (p.Ala1258Val) rs1367065740
NM_138713.4(NFAT5):c.3795C>A (p.Ser1265=) rs2151722869
NM_138713.4(NFAT5):c.3804GCA[3] (p.Gln1283_Gln1284del) rs750951612
NM_138713.4(NFAT5):c.3804GCA[7] (p.Gln1283_Gln1284dup) rs750951612
NM_138713.4(NFAT5):c.3804GCA[9] (p.Gln1284_Ser1285insGlnGlnGlnGln)
NM_138713.4(NFAT5):c.3810GCAGCAGCAACA[1] (p.Gln1277_Gln1284del) rs747731827
NM_138713.4(NFAT5):c.3810GCAGCAGCAACA[2] (p.Gln1281_Gln1284del) rs747731827
NM_138713.4(NFAT5):c.3819_3839del (p.Gln1278_Gln1284del) rs2544250175
NM_138713.4(NFAT5):c.3837_3848del (p.Gln1281_Gln1284del) rs749246961
NM_138713.4(NFAT5):c.3843ACA[2] (p.Gln1284del) rs774263990
NM_138713.4(NFAT5):c.3843ACA[4] (p.Gln1284_Ser1285insGln) rs774263990
NM_138713.4(NFAT5):c.3852G>A (p.Gln1284=)
NM_138713.4(NFAT5):c.3891G>A (p.Met1297Ile)
NM_138713.4(NFAT5):c.3894G>T (p.Ala1298=) rs528549177
NM_138713.4(NFAT5):c.3903G>A (p.Lys1301=) rs147609630
NM_138713.4(NFAT5):c.390G>T (p.Val130=) rs1166261719
NM_138713.4(NFAT5):c.3924A>G (p.Ile1308Met) rs2037654799
NM_138713.4(NFAT5):c.3931C>G (p.Pro1311Ala) rs370045730
NM_138713.4(NFAT5):c.4005A>G (p.Pro1335=) rs2037658303
NM_138713.4(NFAT5):c.4017G>A (p.Glu1339=)
NM_138713.4(NFAT5):c.4023G>A (p.Gln1341=) rs2544252568
NM_138713.4(NFAT5):c.4027A>G (p.Met1343Val) rs2037659667
NM_138713.4(NFAT5):c.4032A>G (p.Gln1344=)
NM_138713.4(NFAT5):c.403A>G (p.Arg135Gly)
NM_138713.4(NFAT5):c.4040G>C (p.Ser1347Thr) rs748392099
NM_138713.4(NFAT5):c.4050A>T (p.Thr1350=) rs909825265
NM_138713.4(NFAT5):c.4063C>A (p.Gln1355Lys) rs764420444
NM_138713.4(NFAT5):c.4070C>T (p.Pro1357Leu) rs761941499
NM_138713.4(NFAT5):c.4079C>T (p.Thr1360Ile)
NM_138713.4(NFAT5):c.4084T>G (p.Ser1362Ala) rs2151723697
NM_138713.4(NFAT5):c.4089A>C (p.Glu1363Asp) rs754921543
NM_138713.4(NFAT5):c.4089A>G (p.Glu1363=) rs754921543
NM_138713.4(NFAT5):c.4092A>G (p.Ser1364=)
NM_138713.4(NFAT5):c.4100C>T (p.Thr1367Ile)
NM_138713.4(NFAT5):c.4101C>G (p.Thr1367=) rs2544253570
NM_138713.4(NFAT5):c.4113T>C (p.His1371=) rs2151723812
NM_138713.4(NFAT5):c.4136T>C (p.Val1379Ala) rs2151723912
NM_138713.4(NFAT5):c.4159G>A (p.Glu1387Lys) rs2151723972
NM_138713.4(NFAT5):c.4160A>G (p.Glu1387Gly) rs749715617
NM_138713.4(NFAT5):c.4176C>T (p.Leu1392=) rs1424166913
NM_138713.4(NFAT5):c.420G>A (p.Lys140=)
NM_138713.4(NFAT5):c.4213A>G (p.Ser1405Gly) rs1434803153
NM_138713.4(NFAT5):c.4216A>G (p.Ile1406Val) rs2037669112
NM_138713.4(NFAT5):c.4232T>C (p.Met1411Thr) rs1597576381
NM_138713.4(NFAT5):c.4237C>G (p.Gln1413Glu) rs2544255234
NM_138713.4(NFAT5):c.4241CTC[1] (p.Pro1415del) rs2544255300
NM_138713.4(NFAT5):c.4246C>T (p.Leu1416Phe) rs1202614548
NM_138713.4(NFAT5):c.4257T>C (p.Pro1419=) rs2544255490
NM_138713.4(NFAT5):c.4266C>T (p.Asn1422=)
NM_138713.4(NFAT5):c.428C>T (p.Thr143Ile) rs377380596
NM_138713.4(NFAT5):c.4298C>G (p.Pro1433Arg)
NM_138713.4(NFAT5):c.4298C>T (p.Pro1433Leu) rs1404150594
NM_138713.4(NFAT5):c.4303C>T (p.Pro1435Ser) rs2037673824
NM_138713.4(NFAT5):c.4306C>G (p.Gln1436Glu) rs1567617414
NM_138713.4(NFAT5):c.4309G>C (p.Ala1437Pro)
NM_138713.4(NFAT5):c.431G>A (p.Ser144Asn) rs2543921704
NM_138713.4(NFAT5):c.4330G>A (p.Ala1444Thr) rs1227168530
NM_138713.4(NFAT5):c.4364C>T (p.Pro1455Leu) rs2151724480
NM_138713.4(NFAT5):c.4369T>C (p.Ser1457Pro) rs1021178399
NM_138713.4(NFAT5):c.4389A>G (p.Gly1463=) rs576653608
NM_138713.4(NFAT5):c.4399T>A (p.Phe1467Ile) rs1597576910
NM_138713.4(NFAT5):c.4403G>A (p.Gly1468Asp)
NM_138713.4(NFAT5):c.4407T>A (p.Ile1469=)
NM_138713.4(NFAT5):c.4414+11C>A rs1016171735
NM_138713.4(NFAT5):c.4414+20C>G
NM_138713.4(NFAT5):c.4415-25_4432del
NM_138713.4(NFAT5):c.4423C>G (p.Gln1475Glu) rs2544262651
NM_138713.4(NFAT5):c.4446T>C (p.Ala1482=) rs2544262979
NM_138713.4(NFAT5):c.4467G>A (p.Met1489Ile) rs2037718619
NM_138713.4(NFAT5):c.4474A>C (p.Ser1492Arg) rs1483837988
NM_138713.4(NFAT5):c.4476T>C (p.Ser1492=) rs1254336117
NM_138713.4(NFAT5):c.4523T>G (p.Leu1508Arg) rs1249418195
NM_138713.4(NFAT5):c.4547A>G (p.Asn1516Ser)
NM_138713.4(NFAT5):c.4552C>T (p.Pro1518Ser) rs2037723323
NM_138713.4(NFAT5):c.4555C>T (p.Leu1519=) rs2544264208
NM_138713.4(NFAT5):c.457A>G (p.Thr153Ala) rs1453397225
NM_138713.4(NFAT5):c.4585A>T (p.Ile1529Phe) rs2151726578
NM_138713.4(NFAT5):c.4587C>T (p.Ile1529=) rs760478635
NM_138713.4(NFAT5):c.4632C>T (p.Asn1544=)
NM_138713.4(NFAT5):c.4633T>A (p.Leu1545Met) rs2544265247
NM_138713.4(NFAT5):c.4643C>T (p.Ser1548Phe)
NM_138713.4(NFAT5):c.473C>T (p.Thr158Ile) rs2543922135
NM_138713.4(NFAT5):c.474A>G (p.Thr158=)
NM_138713.4(NFAT5):c.477C>T (p.Val159=)
NM_138713.4(NFAT5):c.487T>C (p.Ser163Pro) rs2035478468
NM_138713.4(NFAT5):c.491C>T (p.Pro164Leu) rs2543922409
NM_138713.4(NFAT5):c.499G>A (p.Glu167Lys) rs2151621771
NM_138713.4(NFAT5):c.501G>A (p.Glu167=) rs2151621780
NM_138713.4(NFAT5):c.535G>C (p.Asp179His) rs748172080
NM_138713.4(NFAT5):c.545G>A (p.Cys182Tyr) rs1039090408
NM_138713.4(NFAT5):c.550T>C (p.Leu184=) rs770668167
NM_138713.4(NFAT5):c.550T>G (p.Leu184Val) rs770668167
NM_138713.4(NFAT5):c.557C>A (p.Ser186Tyr) rs775227883
NM_138713.4(NFAT5):c.588T>C (p.Asp196=)
NM_138713.4(NFAT5):c.622T>G (p.Ser208Ala) rs2151622067
NM_138713.4(NFAT5):c.659G>A (p.Arg220Gln) rs1488062932
NM_138713.4(NFAT5):c.672A>G (p.Pro224=)
NM_138713.4(NFAT5):c.681G>A (p.Arg227=)
NM_138713.4(NFAT5):c.687G>A (p.Gly229=) rs2543924028
NM_138713.4(NFAT5):c.698G>A (p.Arg233Gln) rs1163354749
NM_138713.4(NFAT5):c.741T>C (p.Ser247=) rs2543924492
NM_138713.4(NFAT5):c.747A>G (p.Lys249=)
NM_138713.4(NFAT5):c.755A>T (p.His252Leu) rs2151622284
NM_138713.4(NFAT5):c.762G>A (p.Val254=) rs759293299
NM_138713.4(NFAT5):c.796T>C (p.Ser266Pro) rs2543924891
NM_138713.4(NFAT5):c.804G>A (p.Ala268=) rs762391891
NM_138713.4(NFAT5):c.812+18T>A
NM_138713.4(NFAT5):c.812+20A>T rs768049317
NM_138713.4(NFAT5):c.812+4G>A rs752147639
NM_138713.4(NFAT5):c.813-11del rs754403311
NM_138713.4(NFAT5):c.814A>G (p.Thr272Ala) rs2035749704
NM_138713.4(NFAT5):c.817T>C (p.Leu273=)
NM_138713.4(NFAT5):c.818T>G (p.Leu273Trp) rs2543968539
NM_138713.4(NFAT5):c.844A>G (p.Lys282Glu) rs2543968740
NM_138713.4(NFAT5):c.848A>G (p.Lys283Arg) rs2543968764
NM_138713.4(NFAT5):c.867A>G (p.Gly289=)
NM_138713.4(NFAT5):c.873T>C (p.Tyr291=) rs2151632845
NM_138713.4(NFAT5):c.874C>T (p.Pro292Ser) rs2543969124
NM_138713.4(NFAT5):c.903_904delinsAT (p.Ile302Leu) rs2151632884
NM_138713.4(NFAT5):c.925_926del (p.Gln309fs) rs2151632923
NM_138713.4(NFAT5):c.942C>T (p.Tyr314=) rs2543969825
NM_138713.4(NFAT5):c.964T>C (p.Ser322Pro) rs2543970077

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