ClinVar Miner

List of variants reported as uncertain significance for T+ B+ severe combined immunodeficiency

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 650
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001905.4(CTPS1):c.1276C>G (p.Pro426Ala) rs139322260 0.00151
NM_032415.7(CARD11):c.3145-3C>T rs200456391 0.00077
NM_001556.3(IKBKB):c.887C>T (p.Pro296Leu) rs186203343 0.00054
NM_032415.7(CARD11):c.2119C>T (p.Arg707Cys) rs143049136 0.00039
NM_001556.3(IKBKB):c.318+6G>T rs17875678 0.00029
NM_032415.7(CARD11):c.2920C>T (p.Arg974Cys) rs201847585 0.00028
NM_001905.4(CTPS1):c.1411G>A (p.Ala471Thr) rs374862639 0.00027
NM_001556.3(IKBKB):c.1829C>T (p.Thr610Met) rs200738579 0.00024
NM_032415.7(CARD11):c.1807+3A>G rs41368548 0.00015
NM_032415.7(CARD11):c.2735G>A (p.Arg912Gln) rs368119340 0.00015
NM_001556.3(IKBKB):c.938A>G (p.His313Arg) rs141351312 0.00012
NM_001905.4(CTPS1):c.1649G>A (p.Arg550Gln) rs776186929 0.00011
NM_032415.7(CARD11):c.1618G>A (p.Gly540Arg) rs112690795 0.00010
NM_001556.3(IKBKB):c.2087A>G (p.Asn696Ser) rs202226005 0.00009
NM_001556.3(IKBKB):c.788A>G (p.Asn263Ser) rs201211235 0.00008
NM_001905.4(CTPS1):c.472C>T (p.Pro158Ser) rs140029453 0.00008
NM_001556.3(IKBKB):c.916A>G (p.Ile306Val) rs140200494 0.00007
NM_032415.7(CARD11):c.1342-3C>T rs375111825 0.00007
NM_001556.3(IKBKB):c.650C>T (p.Thr217Met) rs201023733 0.00006
NM_001905.4(CTPS1):c.1691+6C>T rs765397908 0.00006
NM_032415.7(CARD11):c.2239G>A (p.Val747Ile) rs769577430 0.00006
NM_032415.7(CARD11):c.2899C>T (p.Arg967Cys) rs149857605 0.00006
NM_001556.3(IKBKB):c.1336C>T (p.Arg446Trp) rs202136671 0.00005
NM_001556.3(IKBKB):c.1654A>G (p.Met552Val) rs200018957 0.00005
NM_001556.3(IKBKB):c.674A>G (p.Asn225Ser) rs200288567 0.00005
NM_032415.7(CARD11):c.1663C>T (p.Arg555Trp) rs748963963 0.00005
NM_032415.7(CARD11):c.2703+4A>G rs201256077 0.00005
NM_032415.7(CARD11):c.941A>C (p.Glu314Ala) rs765556434 0.00005
NM_001556.3(IKBKB):c.2119G>A (p.Glu707Lys) rs753511458 0.00004
NM_001556.3(IKBKB):c.878C>T (p.Thr293Met) rs200322650 0.00004
NM_001905.4(CTPS1):c.361A>G (p.Ile121Val) rs200274195 0.00004
NM_001905.4(CTPS1):c.386C>T (p.Ala129Val) rs143058120 0.00004
NM_032415.7(CARD11):c.1940+6C>G rs779299079 0.00004
NM_032415.7(CARD11):c.2275C>T (p.Arg759Trp) rs369433934 0.00004
NM_032415.7(CARD11):c.3382G>A (p.Val1128Ile) rs372251654 0.00004
NM_032415.7(CARD11):c.704G>A (p.Arg235Gln) rs148083162 0.00004
NM_001556.3(IKBKB):c.1607G>A (p.Arg536Gln) rs111715123 0.00003
NM_001556.3(IKBKB):c.1884G>C (p.Lys628Asn) rs372663781 0.00003
NM_001556.3(IKBKB):c.1934G>A (p.Arg645Gln) rs146638252 0.00003
NM_001556.3(IKBKB):c.1996C>T (p.Arg666Cys) rs200511641 0.00003
NM_001556.3(IKBKB):c.2036C>T (p.Ser679Phe) rs1212103006 0.00003
NM_001556.3(IKBKB):c.2169A>G (p.Ile723Met) rs150441824 0.00003
NM_001556.3(IKBKB):c.2228A>T (p.Gln743Leu) rs201869683 0.00003
NM_001556.3(IKBKB):c.353G>A (p.Arg118Gln) rs139712776 0.00003
NM_001556.3(IKBKB):c.613T>C (p.Tyr205His) rs147591709 0.00003
NM_001905.4(CTPS1):c.1087A>G (p.Ser363Gly) rs149054758 0.00003
NM_001905.4(CTPS1):c.1769A>G (p.His590Arg) rs755468825 0.00003
NM_001905.4(CTPS1):c.242G>A (p.Arg81His) rs376970699 0.00003
NM_032415.7(CARD11):c.1271G>A (p.Arg424Gln) rs564294642 0.00003
NM_032415.7(CARD11):c.1807+5G>A rs748165134 0.00003
NM_032415.7(CARD11):c.2269+3G>A rs779109505 0.00003
NM_032415.7(CARD11):c.3095A>G (p.Asn1032Ser) rs759214987 0.00003
NM_032415.7(CARD11):c.975C>A (p.Asn325Lys) rs761421227 0.00003
NM_001556.3(IKBKB):c.1097C>T (p.Pro366Leu) rs763596106 0.00002
NM_001556.3(IKBKB):c.1360G>A (p.Ala454Thr) rs1286940689 0.00002
NM_001556.3(IKBKB):c.1364+5C>T rs752596848 0.00002
NM_001556.3(IKBKB):c.317A>G (p.Lys106Arg) rs755185347 0.00002
NM_001556.3(IKBKB):c.522T>G (p.Asp174Glu) rs749952717 0.00002
NM_001556.3(IKBKB):c.718G>A (p.Glu240Lys) rs201052871 0.00002
NM_001556.3(IKBKB):c.820G>A (p.Glu274Lys) rs200531993 0.00002
NM_001556.3(IKBKB):c.971C>T (p.Thr324Ile) rs754812986 0.00002
NM_001905.4(CTPS1):c.1040C>T (p.Ser347Leu) rs988433826 0.00002
NM_001905.4(CTPS1):c.1235A>G (p.Asn412Ser) rs928104008 0.00002
NM_001905.4(CTPS1):c.1294G>A (p.Val432Met) rs373379651 0.00002
NM_001905.4(CTPS1):c.1327C>A (p.Gln443Lys) rs777839795 0.00002
NM_001905.4(CTPS1):c.1379A>G (p.Lys460Arg) rs568672601 0.00002
NM_001905.4(CTPS1):c.1692-3C>T rs748205702 0.00002
NM_001905.4(CTPS1):c.1692G>A (p.Arg564=) rs201074432 0.00002
NM_001905.4(CTPS1):c.439-6T>G rs369112285 0.00002
NM_001905.4(CTPS1):c.880C>T (p.Arg294Cys) rs372743741 0.00002
NM_032415.7(CARD11):c.1834G>A (p.Gly612Arg) rs755710637 0.00002
NM_032415.7(CARD11):c.2543G>A (p.Arg848His) rs1211022340 0.00002
NM_032415.7(CARD11):c.2777C>T (p.Pro926Leu) rs755425231 0.00002
NM_032415.7(CARD11):c.3019+3G>A rs930551737 0.00002
NM_032415.7(CARD11):c.3019+5G>A rs752816910 0.00002
NM_032415.7(CARD11):c.925C>T (p.Arg309Cys) rs370704955 0.00002
NM_001556.3(IKBKB):c.106-3T>C rs374850898 0.00001
NM_001556.3(IKBKB):c.1084A>G (p.Ile362Val) rs1263837874 0.00001
NM_001556.3(IKBKB):c.1121G>C (p.Gly374Ala) rs1434387039 0.00001
NM_001556.3(IKBKB):c.1235G>C (p.Cys412Ser) rs368737022 0.00001
NM_001556.3(IKBKB):c.1337G>A (p.Arg446Gln) rs200485393 0.00001
NM_001556.3(IKBKB):c.1466G>T (p.Ser489Ile) rs1184918253 0.00001
NM_001556.3(IKBKB):c.14C>T (p.Pro5Leu) rs201805807 0.00001
NM_001556.3(IKBKB):c.1552G>A (p.Glu518Lys) rs1378740755 0.00001
NM_001556.3(IKBKB):c.1603G>C (p.Glu535Gln) rs1438637705 0.00001
NM_001556.3(IKBKB):c.1661G>A (p.Arg554Gln) rs751295594 0.00001
NM_001556.3(IKBKB):c.1676C>T (p.Thr559Met) rs754822259 0.00001
NM_001556.3(IKBKB):c.1817G>A (p.Arg606Gln) rs776259486 0.00001
NM_001556.3(IKBKB):c.1819G>A (p.Val607Met) rs764627236 0.00001
NM_001556.3(IKBKB):c.1826A>G (p.Tyr609Cys) rs1446069169 0.00001
NM_001556.3(IKBKB):c.1933C>T (p.Arg645Trp) rs753922163 0.00001
NM_001556.3(IKBKB):c.1986T>C (p.Cys662=) rs1302408676 0.00001
NM_001556.3(IKBKB):c.2078C>T (p.Thr693Met) rs199897983 0.00001
NM_001556.3(IKBKB):c.2104G>A (p.Ala702Thr) rs200260868 0.00001
NM_001556.3(IKBKB):c.230G>A (p.Arg77Gln) rs200136227 0.00001
NM_001556.3(IKBKB):c.266A>G (p.Asn89Ser) rs763432993 0.00001
NM_001556.3(IKBKB):c.32C>T (p.Thr11Ile) rs1388981077 0.00001
NM_001556.3(IKBKB):c.341G>A (p.Cys114Tyr) rs1383844139 0.00001
NM_001556.3(IKBKB):c.700A>G (p.Lys234Glu) rs1193171808 0.00001
NM_001556.3(IKBKB):c.869C>T (p.Thr290Met) rs201602866 0.00001
NM_001556.3(IKBKB):c.902A>G (p.Lys301Arg) rs1304501516 0.00001
NM_001556.3(IKBKB):c.940A>G (p.Ile314Val) rs201912118 0.00001
NM_001905.4(CTPS1):c.1009A>G (p.Ile337Val) rs140093917 0.00001
NM_001905.4(CTPS1):c.1054G>A (p.Val352Met) rs150289603 0.00001
NM_001905.4(CTPS1):c.1095-5T>G rs373984935 0.00001
NM_001905.4(CTPS1):c.1237G>A (p.Val413Met) rs778320711 0.00001
NM_001905.4(CTPS1):c.1280C>T (p.Thr427Met) rs768930904 0.00001
NM_001905.4(CTPS1):c.1397A>G (p.Lys466Arg) rs962110557 0.00001
NM_001905.4(CTPS1):c.1403A>G (p.Tyr468Cys) rs144358815 0.00001
NM_001905.4(CTPS1):c.1727C>G (p.Pro576Arg) rs149425488 0.00001
NM_001905.4(CTPS1):c.221A>G (p.Tyr74Cys) rs751260098 0.00001
NM_001905.4(CTPS1):c.241C>T (p.Arg81Cys) rs748131892 0.00001
NM_001905.4(CTPS1):c.451G>A (p.Val151Met) rs372858150 0.00001
NM_001905.4(CTPS1):c.790G>T (p.Asp264Tyr) rs1484961348 0.00001
NM_001905.4(CTPS1):c.889G>A (p.Glu297Lys) rs746188198 0.00001
NM_001905.4(CTPS1):c.939C>G (p.Ser313=) rs1003752907 0.00001
NM_001905.4(CTPS1):c.98A>G (p.His33Arg) rs1288200124 0.00001
NM_032415.7(CARD11):c.1136G>A (p.Arg379Gln) rs751008087 0.00001
NM_032415.7(CARD11):c.1143+10C>G rs1300600302 0.00001
NM_032415.7(CARD11):c.1143+8C>T rs1361841452 0.00001
NM_032415.7(CARD11):c.1223G>A (p.Arg408His) rs79513324 0.00001
NM_032415.7(CARD11):c.1531A>G (p.Lys511Glu) rs1204092415 0.00001
NM_032415.7(CARD11):c.1558T>C (p.Ser520Pro) rs755350456 0.00001
NM_032415.7(CARD11):c.155T>C (p.Ile52Thr) rs1780507014 0.00001
NM_032415.7(CARD11):c.1783G>A (p.Gly595Arg) rs758980337 0.00001
NM_032415.7(CARD11):c.1948C>T (p.Arg650Trp) rs745349548 0.00001
NM_032415.7(CARD11):c.2008A>T (p.Thr670Ser) rs369830451 0.00001
NM_032415.7(CARD11):c.2063G>A (p.Arg688Gln) rs764342695 0.00001
NM_032415.7(CARD11):c.2113G>A (p.Gly705Ser) rs146070546 0.00001
NM_032415.7(CARD11):c.2377A>G (p.Met793Val) rs201921426 0.00001
NM_032415.7(CARD11):c.2410C>T (p.Arg804Cys) rs895214237 0.00001
NM_032415.7(CARD11):c.2480T>G (p.Leu827Arg) rs1230820912 0.00001
NM_032415.7(CARD11):c.2564G>A (p.Arg855Gln) rs928782717 0.00001
NM_032415.7(CARD11):c.2606G>A (p.Arg869Gln) rs763435728 0.00001
NM_032415.7(CARD11):c.2650C>T (p.Arg884Trp) rs1450077193 0.00001
NM_032415.7(CARD11):c.2662C>T (p.Arg888Cys) rs142828146 0.00001
NM_032415.7(CARD11):c.2780T>C (p.Leu927Pro) rs934009845 0.00001
NM_032415.7(CARD11):c.2909A>G (p.Tyr970Cys) rs1225312452 0.00001
NM_032415.7(CARD11):c.2929G>A (p.Val977Met) rs1172378918 0.00001
NM_032415.7(CARD11):c.3057G>T (p.Lys1019Asn) rs899595121 0.00001
NM_032415.7(CARD11):c.3109A>G (p.Ile1037Val) rs201598354 0.00001
NM_032415.7(CARD11):c.3205A>G (p.Ile1069Val) rs1466729511 0.00001
NM_032415.7(CARD11):c.3260+5G>A rs765125933 0.00001
NM_032415.7(CARD11):c.3302G>A (p.Arg1101His) rs751651073 0.00001
NM_032415.7(CARD11):c.3344G>A (p.Cys1115Tyr) rs777154448 0.00001
NM_032415.7(CARD11):c.377G>C (p.Gly126Ala) rs1423056320 0.00001
NM_032415.7(CARD11):c.3G>C (p.Met1Ile) rs746425765 0.00001
NM_032415.7(CARD11):c.416A>G (p.Gln139Arg) rs1780388446 0.00001
NM_032415.7(CARD11):c.50A>G (p.Asp17Gly) rs1053147582 0.00001
NM_032415.7(CARD11):c.61G>A (p.Ala21Thr) rs775081227 0.00001
NM_032415.7(CARD11):c.808G>C (p.Glu270Gln) rs1402074557 0.00001
NM_032415.7(CARD11):c.812G>T (p.Arg271Leu) rs777590674 0.00001
NM_032415.7(CARD11):c.94A>G (p.Met32Val) rs1359873709 0.00001
NM_032415.7(CARD11):c.95T>C (p.Met32Thr) rs1236228710 0.00001
NM_032415.7(CARD11):c.992G>A (p.Arg331His) rs768652824 0.00001
NC_000001.10:g.(?_41474523)_(41510926_?)del
NC_000007.13:g.(?_2577703)_(2972240_?)dup
NC_000007.13:g.(?_2946252)_(2998160_?)dup
NC_000007.13:g.(?_2946272)_(2946496_?)dup
NC_000007.13:g.(?_2946272)_(2966445_?)del
NC_000007.13:g.(?_2946272)_(2998140_?)dup
NC_000007.13:g.(?_2962248)_(2998140_?)dup
NC_000007.14:g.(?_2906618)_(2917405_?)del
NC_000007.14:g.(?_2922614)_(2958526_?)dup
NC_000008.10:g.(?_41518984)_(42698237_?)dup
NC_000008.10:g.(?_41905876)_(42188497_?)dup
NC_000008.10:g.(?_42128869)_(43054732_?)dup
NC_000008.10:g.(?_42129619)_(42188497_?)dup
NM_001556.3(IKBKB):c.1073G>A (p.Gly358Asp) rs2130638855
NM_001556.3(IKBKB):c.1079C>T (p.Ala360Val)
NM_001556.3(IKBKB):c.1090G>A (p.Asp364Asn)
NM_001556.3(IKBKB):c.1106A>G (p.Gln369Arg) rs56411242
NM_001556.3(IKBKB):c.1117G>C (p.Asp373His) rs2130639266
NM_001556.3(IKBKB):c.1120G>A (p.Gly374Ser) rs758806135
NM_001556.3(IKBKB):c.1124A>C (p.Lys375Thr) rs1585763391
NM_001556.3(IKBKB):c.1130A>G (p.Asn377Ser)
NM_001556.3(IKBKB):c.1136G>T (p.Gly379Val)
NM_001556.3(IKBKB):c.1170T>C (p.Phe390=)
NM_001556.3(IKBKB):c.1172A>G (p.Asp391Gly)
NM_001556.3(IKBKB):c.1173C>A (p.Asp391Glu)
NM_001556.3(IKBKB):c.1192G>A (p.Glu398Lys)
NM_001556.3(IKBKB):c.1200G>C (p.Gln400His)
NM_001556.3(IKBKB):c.1205C>G (p.Ser402Cys)
NM_001556.3(IKBKB):c.1223A>C (p.Glu408Ala) rs543940041
NM_001556.3(IKBKB):c.1238T>A (p.Ile413Asn) rs1221917553
NM_001556.3(IKBKB):c.1240C>T (p.Leu414Phe)
NM_001556.3(IKBKB):c.1244A>G (p.Gln415Arg)
NM_001556.3(IKBKB):c.1255A>G (p.Arg419Gly)
NM_001556.3(IKBKB):c.1264G>A (p.Ala422Thr)
NM_001556.3(IKBKB):c.1342C>T (p.Gln448Ter)
NM_001556.3(IKBKB):c.1357G>A (p.Ala453Thr)
NM_001556.3(IKBKB):c.1364+6G>A
NM_001556.3(IKBKB):c.1365-14T>C
NM_001556.3(IKBKB):c.13C>A (p.Pro5Thr)
NM_001556.3(IKBKB):c.1404G>T (p.Met468Ile)
NM_001556.3(IKBKB):c.1412C>G (p.Ser471Cys)
NM_001556.3(IKBKB):c.1416G>C (p.Met472Ile)
NM_001556.3(IKBKB):c.1424T>C (p.Met475Thr) rs200031466
NM_001556.3(IKBKB):c.1439A>G (p.Lys480Arg)
NM_001556.3(IKBKB):c.1451A>G (p.Asp484Gly) rs2130659705
NM_001556.3(IKBKB):c.1468A>G (p.Ile490Val) rs1819332008
NM_001556.3(IKBKB):c.1480C>A (p.Leu494Met)
NM_001556.3(IKBKB):c.1495G>A (p.Glu499Lys)
NM_001556.3(IKBKB):c.1517-3C>G rs1819383596
NM_001556.3(IKBKB):c.1519T>C (p.Ser507Pro) rs1585781141
NM_001556.3(IKBKB):c.1557G>C (p.Gln519His)
NM_001556.3(IKBKB):c.1578+11C>A
NM_001556.3(IKBKB):c.1600G>A (p.Val534Ile)
NM_001556.3(IKBKB):c.1627G>A (p.Asp543Asn)
NM_001556.3(IKBKB):c.162C>G (p.Asn54Lys)
NM_001556.3(IKBKB):c.1637A>G (p.Asp546Gly) rs2130671505
NM_001556.3(IKBKB):c.1658G>C (p.Gly553Ala) rs1326176524
NM_001556.3(IKBKB):c.1660C>T (p.Arg554Trp)
NM_001556.3(IKBKB):c.1669G>C (p.Gly557Arg)
NM_001556.3(IKBKB):c.1673G>T (p.Gly558Val) rs1441651063
NM_001556.3(IKBKB):c.1675A>G (p.Thr559Ala)
NM_001556.3(IKBKB):c.1675A>T (p.Thr559Ser) rs1182623073
NM_001556.3(IKBKB):c.1679T>C (p.Leu560Pro) rs1195581989
NM_001556.3(IKBKB):c.1688+5G>A
NM_001556.3(IKBKB):c.1690G>A (p.Glu564Lys)
NM_001556.3(IKBKB):c.1706A>G (p.Glu569Gly)
NM_001556.3(IKBKB):c.1714A>G (p.Arg572Gly)
NM_001556.3(IKBKB):c.1736G>A (p.Arg579Gln)
NM_001556.3(IKBKB):c.1761T>G (p.Ser587Arg)
NM_001556.3(IKBKB):c.1798A>G (p.Ser600Gly) rs772006031
NM_001556.3(IKBKB):c.1813G>T (p.Val605Leu) rs1563364138
NM_001556.3(IKBKB):c.1816C>G (p.Arg606Gly) rs768351634
NM_001556.3(IKBKB):c.1819G>C (p.Val607Leu) rs764627236
NM_001556.3(IKBKB):c.1832A>G (p.Gln611Arg)
NM_001556.3(IKBKB):c.1848G>A (p.Val616=)
NM_001556.3(IKBKB):c.1849G>A (p.Val617Ile)
NM_001556.3(IKBKB):c.1868T>C (p.Leu623Pro)
NM_001556.3(IKBKB):c.1916A>G (p.Asp639Gly)
NM_001556.3(IKBKB):c.1930G>A (p.Val644Ile)
NM_001556.3(IKBKB):c.1948C>T (p.Arg650Trp)
NM_001556.3(IKBKB):c.2000G>C (p.Gly667Ala) rs1820663869
NM_001556.3(IKBKB):c.2005G>C (p.Val669Leu)
NM_001556.3(IKBKB):c.203T>G (p.Leu68Arg)
NM_001556.3(IKBKB):c.2041C>T (p.Leu681Phe)
NM_001556.3(IKBKB):c.2074T>A (p.Ser692Thr)
NM_001556.3(IKBKB):c.2083T>A (p.Ser695Thr) rs1820679317
NM_001556.3(IKBKB):c.2083T>C (p.Ser695Pro)
NM_001556.3(IKBKB):c.2115-3T>C
NM_001556.3(IKBKB):c.212C>T (p.Pro71Leu)
NM_001556.3(IKBKB):c.2156T>C (p.Leu719Pro) rs2130735732
NM_001556.3(IKBKB):c.215A>G (p.Asn72Ser) rs771764280
NM_001556.3(IKBKB):c.2180_2181del (p.Val727fs)
NM_001556.3(IKBKB):c.2185G>A (p.Glu729Lys)
NM_001556.3(IKBKB):c.2188C>G (p.Gln730Glu)
NM_001556.3(IKBKB):c.2190A>C (p.Gln730His)
NM_001556.3(IKBKB):c.2204C>A (p.Thr735Lys) rs555312351
NM_001556.3(IKBKB):c.2220C>A (p.Ser740Arg)
NM_001556.3(IKBKB):c.2224_2232dup (p.Leu742_Thr744dup) rs1821622693
NM_001556.3(IKBKB):c.2231C>T (p.Thr744Met)
NM_001556.3(IKBKB):c.2235AGA[2] (p.Glu748del) rs774937660
NM_001556.3(IKBKB):c.2260C>T (p.Gln754Ter)
NM_001556.3(IKBKB):c.2260_2262dup (p.Gln754_Ala755insGln)
NM_001556.3(IKBKB):c.2263G>A (p.Ala755Thr)
NM_001556.3(IKBKB):c.314G>A (p.Arg105Gln) rs1446214032
NM_001556.3(IKBKB):c.359G>A (p.Gly120Asp)
NM_001556.3(IKBKB):c.366C>T (p.Ile122=)
NM_001556.3(IKBKB):c.368T>C (p.Leu123Pro)
NM_001556.3(IKBKB):c.380G>A (p.Ser127Asn)
NM_001556.3(IKBKB):c.382G>A (p.Asp128Asn)
NM_001556.3(IKBKB):c.385A>G (p.Ile129Val) rs1813081444
NM_001556.3(IKBKB):c.38G>A (p.Gly13Glu)
NM_001556.3(IKBKB):c.461A>G (p.Gln154Arg) rs1425985153
NM_001556.3(IKBKB):c.467G>C (p.Gly156Ala)
NM_001556.3(IKBKB):c.509C>T (p.Ala170Val) rs1554518965
NM_001556.3(IKBKB):c.514G>A (p.Glu172Lys)
NM_001556.3(IKBKB):c.547G>A (p.Val183Met)
NM_001556.3(IKBKB):c.554C>A (p.Thr185Asn)
NM_001556.3(IKBKB):c.577C>G (p.Leu193Val) rs2130562887
NM_001556.3(IKBKB):c.675C>G (p.Asn225Lys) rs368588487
NM_001556.3(IKBKB):c.692+5G>C
NM_001556.3(IKBKB):c.703G>A (p.Val235Met)
NM_001556.3(IKBKB):c.707G>A (p.Arg236Gln)
NM_001556.3(IKBKB):c.712A>C (p.Lys238Gln)
NM_001556.3(IKBKB):c.730G>A (p.Val244Ile) rs774103270
NM_001556.3(IKBKB):c.739G>A (p.Glu247Lys)
NM_001556.3(IKBKB):c.742G>C (p.Asp248His) rs2130616545
NM_001556.3(IKBKB):c.752G>C (p.Gly251Ala) rs1585747711
NM_001556.3(IKBKB):c.757G>C (p.Val253Leu) rs140074007
NM_001556.3(IKBKB):c.767C>T (p.Ser256Leu)
NM_001556.3(IKBKB):c.800+3A>G rs1324740567
NM_001556.3(IKBKB):c.801-5C>G rs1818657558
NM_001556.3(IKBKB):c.812A>C (p.Glu271Ala)
NM_001556.3(IKBKB):c.840G>T (p.Met280Ile) rs1818662984
NM_001556.3(IKBKB):c.854C>G (p.Pro285Arg)
NM_001556.3(IKBKB):c.881A>G (p.Tyr294Cys) rs759786790
NM_001556.3(IKBKB):c.90C>G (p.Ile30Met) rs1807917822
NM_001556.3(IKBKB):c.931-12G>T rs920349132
NM_001556.3(IKBKB):c.950T>C (p.Met317Thr) rs1818752101
NM_001556.3(IKBKB):c.956C>T (p.Thr319Met)
NM_001556.3(IKBKB):c.987G>A (p.Glu329=) rs1402092076
NM_001905.4(CTPS1):c.1005+6G>A rs2148406240
NM_001905.4(CTPS1):c.1007A>T (p.Tyr336Phe) rs1570970424
NM_001905.4(CTPS1):c.1019C>T (p.Ala340Val)
NM_001905.4(CTPS1):c.1057C>T (p.Arg353Cys) rs968928651
NM_001905.4(CTPS1):c.1060T>C (p.Tyr354His)
NM_001905.4(CTPS1):c.1094+5G>A
NM_001905.4(CTPS1):c.1132A>G (p.Thr378Ala)
NM_001905.4(CTPS1):c.115A>G (p.Ile39Val) rs2148385706
NM_001905.4(CTPS1):c.1166G>C (p.Arg389Pro) rs139001308
NM_001905.4(CTPS1):c.1190-18T>A
NM_001905.4(CTPS1):c.1236C>T (p.Asn412=)
NM_001905.4(CTPS1):c.1253A>G (p.Asp418Gly) rs1643025028
NM_001905.4(CTPS1):c.1268A>G (p.Glu423Gly)
NM_001905.4(CTPS1):c.1274_1275delinsTT (p.Asp425Val) rs1643025482
NM_001905.4(CTPS1):c.1296+3G>A
NM_001905.4(CTPS1):c.1300G>A (p.Val434Ile) rs375485430
NM_001905.4(CTPS1):c.1331T>A (p.Met444Lys)
NM_001905.4(CTPS1):c.1336G>A (p.Gly446Arg)
NM_001905.4(CTPS1):c.137A>G (p.Asp46Gly) rs757447163
NM_001905.4(CTPS1):c.1390A>C (p.Met464Leu)
NM_001905.4(CTPS1):c.1392G>C (p.Met464Ile) rs773684585
NM_001905.4(CTPS1):c.1398A>C (p.Lys466Asn)
NM_001905.4(CTPS1):c.1432C>T (p.His478Tyr)
NM_001905.4(CTPS1):c.1436G>T (p.Arg479Leu)
NM_001905.4(CTPS1):c.1449+3G>A
NM_001905.4(CTPS1):c.1450-4A>G rs2148420558
NM_001905.4(CTPS1):c.1459G>C (p.Val487Leu) rs1643098135
NM_001905.4(CTPS1):c.1469A>C (p.Lys490Thr)
NM_001905.4(CTPS1):c.1471T>G (p.Cys491Gly) rs2148420580
NM_001905.4(CTPS1):c.1502G>C (p.Gly501Ala)
NM_001905.4(CTPS1):c.1547A>G (p.Asp516Gly)
NM_001905.4(CTPS1):c.1604A>G (p.Lys535Arg)
NM_001905.4(CTPS1):c.1610C>T (p.Ser537Phe)
NM_001905.4(CTPS1):c.1622T>C (p.Phe541Ser) rs2148421320
NM_001905.4(CTPS1):c.1658A>T (p.His553Leu)
NM_001905.4(CTPS1):c.1684T>C (p.Ser562Pro)
NM_001905.4(CTPS1):c.1697C>T (p.Thr566Ile) rs1643134667
NM_001905.4(CTPS1):c.1744G>A (p.Glu582Lys)
NM_001905.4(CTPS1):c.1757del (p.Pro586fs)
NM_001905.4(CTPS1):c.191G>A (p.Gly64Asp)
NM_001905.4(CTPS1):c.262C>G (p.Leu88Val)
NM_001905.4(CTPS1):c.287A>G (p.Tyr96Cys) rs1642413763
NM_001905.4(CTPS1):c.304C>T (p.Arg102Trp)
NM_001905.4(CTPS1):c.305G>A (p.Arg102Gln)
NM_001905.4(CTPS1):c.332T>C (p.Val111Ala)
NM_001905.4(CTPS1):c.336A>G (p.Gln112=) rs1642414869
NM_001905.4(CTPS1):c.370T>G (p.Trp124Gly) rs1642483599
NM_001905.4(CTPS1):c.434T>C (p.Ile145Thr)
NM_001905.4(CTPS1):c.438+1G>A rs2148392127
NM_001905.4(CTPS1):c.454G>A (p.Gly152Arg)
NM_001905.4(CTPS1):c.509T>G (p.Val170Gly)
NM_001905.4(CTPS1):c.555+5G>A rs1292013147
NM_001905.4(CTPS1):c.555G>A (p.Gln185=)
NM_001905.4(CTPS1):c.555_555+997del
NM_001905.4(CTPS1):c.568G>A (p.Gly190Arg)
NM_001905.4(CTPS1):c.584A>C (p.Lys195Thr) rs2148397688
NM_001905.4(CTPS1):c.586C>T (p.Pro196Ser) rs1642600970
NM_001905.4(CTPS1):c.607G>C (p.Glu203Gln) rs1433781145
NM_001905.4(CTPS1):c.636T>A (p.Asp212Glu) rs1558142847
NM_001905.4(CTPS1):c.720+1G>A rs1381936067
NM_001905.4(CTPS1):c.752A>G (p.Tyr251Cys) rs2148404103
NM_001905.4(CTPS1):c.820A>G (p.Ile274Val)
NM_001905.4(CTPS1):c.821T>C (p.Ile274Thr)
NM_001905.4(CTPS1):c.872+4T>A
NM_001905.4(CTPS1):c.873-3T>C
NM_001905.4(CTPS1):c.881G>A (p.Arg294His)
NM_001905.4(CTPS1):c.988C>A (p.His330Asn) rs1553180295
NM_001905.4(CTPS1):c.98A>T (p.His33Leu)
NM_032415.7(CARD11):c.1000G>A (p.Glu334Lys)
NM_032415.7(CARD11):c.1010G>A (p.Arg337Gln)
NM_032415.7(CARD11):c.1017+5G>A
NM_032415.7(CARD11):c.103C>T (p.Arg35Cys) rs1780508141
NM_032415.7(CARD11):c.1040T>C (p.Leu347Pro)
NM_032415.7(CARD11):c.1055C>T (p.Ser352Leu) rs1583398561
NM_032415.7(CARD11):c.1084A>G (p.Lys362Glu) rs1780131821
NM_032415.7(CARD11):c.1085A>G (p.Lys362Arg)
NM_032415.7(CARD11):c.1086G>C (p.Lys362Asn)
NM_032415.7(CARD11):c.1090C>T (p.Arg364Cys) rs1780131653
NM_032415.7(CARD11):c.1145C>A (p.Ala382Asp)
NM_032415.7(CARD11):c.1145C>G (p.Ala382Gly) rs776851896
NM_032415.7(CARD11):c.1150C>T (p.His384Tyr) rs747416751
NM_032415.7(CARD11):c.1157G>A (p.Arg386Gln)
NM_032415.7(CARD11):c.1180T>C (p.Ser394Pro) rs2115069197
NM_032415.7(CARD11):c.1181C>T (p.Ser394Leu)
NM_032415.7(CARD11):c.1186T>G (p.Cys396Gly) rs1583397573
NM_032415.7(CARD11):c.1199A>G (p.Lys400Arg)
NM_032415.7(CARD11):c.1202A>T (p.Asp401Val) rs1562490891
NM_032415.7(CARD11):c.1210A>G (p.Arg404Gly) rs1780105726
NM_032415.7(CARD11):c.1236G>C (p.Glu412Asp)
NM_032415.7(CARD11):c.1245C>A (p.Asp415Glu)
NM_032415.7(CARD11):c.1250T>A (p.Met417Lys) rs773541566
NM_032415.7(CARD11):c.1250T>G (p.Met417Arg)
NM_032415.7(CARD11):c.125T>G (p.Leu42Arg) rs1780507887
NM_032415.7(CARD11):c.1268G>A (p.Arg423Gln)
NM_032415.7(CARD11):c.1316C>T (p.Ser439Phe) rs760856731
NM_032415.7(CARD11):c.1328A>G (p.Asn443Ser)
NM_032415.7(CARD11):c.1341+14G>T
NM_032415.7(CARD11):c.1341+15G>A
NM_032415.7(CARD11):c.1341+3G>T rs939644628
NM_032415.7(CARD11):c.1357C>A (p.Leu453Met)
NM_032415.7(CARD11):c.1363G>A (p.Val455Ile)
NM_032415.7(CARD11):c.1369A>G (p.Ile457Val)
NM_032415.7(CARD11):c.136C>G (p.Leu46Val) rs149740754
NM_032415.7(CARD11):c.1373T>C (p.Ile458Thr)
NM_032415.7(CARD11):c.137T>C (p.Leu46Pro)
NM_032415.7(CARD11):c.139C>A (p.Arg47Ser) rs1780507453
NM_032415.7(CARD11):c.139C>T (p.Arg47Cys) rs1780507453
NM_032415.7(CARD11):c.13G>A (p.Gly5Arg)
NM_032415.7(CARD11):c.1400C>T (p.Pro467Leu) rs1583394247
NM_032415.7(CARD11):c.1402A>G (p.Arg468Gly)
NM_032415.7(CARD11):c.1406C>T (p.Thr469Ile) rs2115064365
NM_032415.7(CARD11):c.1409A>G (p.Asn470Ser)
NM_032415.7(CARD11):c.1412G>T (p.Gly471Val)
NM_032415.7(CARD11):c.1432T>C (p.Ser478Pro) rs1048220030
NM_032415.7(CARD11):c.1435A>G (p.Thr479Ala)
NM_032415.7(CARD11):c.1458C>A (p.Asp486Glu)
NM_032415.7(CARD11):c.1460G>A (p.Ser487Asn) rs1583394168
NM_032415.7(CARD11):c.1460G>C (p.Ser487Thr) rs1583394168
NM_032415.7(CARD11):c.1480C>A (p.His494Asn)
NM_032415.7(CARD11):c.1493G>A (p.Arg498His)
NM_032415.7(CARD11):c.1496G>A (p.Arg499Lys) rs774299169
NM_032415.7(CARD11):c.150G>C (p.Lys50Asn) rs1282104067
NM_032415.7(CARD11):c.1519C>T (p.Leu507=) rs1779925230
NM_032415.7(CARD11):c.1521G>T (p.Leu507=)
NM_032415.7(CARD11):c.1535C>G (p.Ser512Cys) rs1562488034
NM_032415.7(CARD11):c.1585G>A (p.Glu529Lys)
NM_032415.7(CARD11):c.1600_1601delinsAA (p.Ala534Asn) rs2115056168
NM_032415.7(CARD11):c.1606C>T (p.Pro536Ser)
NM_032415.7(CARD11):c.1637A>G (p.Asn546Ser)
NM_032415.7(CARD11):c.1646C>T (p.Thr549Ile)
NM_032415.7(CARD11):c.1656G>C (p.Gln552His) rs1779801164
NM_032415.7(CARD11):c.1657C>A (p.Pro553Thr)
NM_032415.7(CARD11):c.1658C>A (p.Pro553His) rs138608490
NM_032415.7(CARD11):c.1658_1659delinsAT (p.Pro553His)
NM_032415.7(CARD11):c.1661_1663del (p.Pro554del)
NM_032415.7(CARD11):c.1666A>G (p.Ser556Gly)
NM_032415.7(CARD11):c.1682T>A (p.Met561Lys)
NM_032415.7(CARD11):c.1691C>T (p.Thr564Ile)
NM_032415.7(CARD11):c.1738G>A (p.Asp580Asn)
NM_032415.7(CARD11):c.173A>G (p.Asp58Gly) rs1780506565
NM_032415.7(CARD11):c.173A>T (p.Asp58Val) rs1780506565
NM_032415.7(CARD11):c.1750C>T (p.Arg584Cys) rs1251262286
NM_032415.7(CARD11):c.1751G>A (p.Arg584His)
NM_032415.7(CARD11):c.1752C>T (p.Arg584=) rs1583385554
NM_032415.7(CARD11):c.1754+16G>T
NM_032415.7(CARD11):c.1793C>T (p.Ala598Val)
NM_032415.7(CARD11):c.179T>A (p.Val60Glu) rs1583410780
NM_032415.7(CARD11):c.1806T>C (p.Asp602=)
NM_032415.7(CARD11):c.1810G>A (p.Asp604Asn) rs1562484010
NM_032415.7(CARD11):c.1816C>A (p.His606Asn)
NM_032415.7(CARD11):c.181C>T (p.Leu61Phe) rs1780506319
NM_032415.7(CARD11):c.1822C>A (p.Arg608Ser)
NM_032415.7(CARD11):c.182T>G (p.Leu61Arg) rs1780506229
NM_032415.7(CARD11):c.1852TCC[6] (p.Ser622_His623insSer)
NM_032415.7(CARD11):c.1858T>A (p.Ser620Thr)
NM_032415.7(CARD11):c.1867C>A (p.His623Asn)
NM_032415.7(CARD11):c.1875C>A (p.Ser625=) rs138416850
NM_032415.7(CARD11):c.1876G>A (p.Glu626Lys) rs1286585074
NM_032415.7(CARD11):c.1911C>T (p.Asn637=)
NM_032415.7(CARD11):c.191C>G (p.Pro64Arg) rs1583410771
NM_032415.7(CARD11):c.1926G>T (p.Lys642Asn)
NM_032415.7(CARD11):c.193A>G (p.Met65Val) rs1554276629
NM_032415.7(CARD11):c.1940+5C>T
NM_032415.7(CARD11):c.1951C>A (p.Pro651Thr)
NM_032415.7(CARD11):c.1978C>T (p.Arg660Trp)
NM_032415.7(CARD11):c.1996G>A (p.Val666Met)
NM_032415.7(CARD11):c.2047C>G (p.Leu683Val)
NM_032415.7(CARD11):c.2055C>T (p.Gly685=) rs374351706
NM_032415.7(CARD11):c.2074G>C (p.Val692Leu)
NM_032415.7(CARD11):c.2079C>G (p.His693Gln)
NM_032415.7(CARD11):c.2083G>A (p.Val695Ile)
NM_032415.7(CARD11):c.2089C>A (p.Pro697Thr) rs2115044660
NM_032415.7(CARD11):c.2093G>A (p.Gly698Asp) rs770528584
NM_032415.7(CARD11):c.2093G>C (p.Gly698Ala)
NM_032415.7(CARD11):c.2101G>C (p.Ala701Pro)
NM_032415.7(CARD11):c.2102C>T (p.Ala701Val) rs1779619747
NM_032415.7(CARD11):c.2130C>A (p.His710Gln) rs1487587630
NM_032415.7(CARD11):c.213C>G (p.Asn71Lys)
NM_032415.7(CARD11):c.2142+3G>A
NM_032415.7(CARD11):c.2142+6G>A
NM_032415.7(CARD11):c.2142G>C (p.Leu714=)
NM_032415.7(CARD11):c.2143-11_2143-10del
NM_032415.7(CARD11):c.2148A>C (p.Glu716Asp)
NM_032415.7(CARD11):c.2148A>T (p.Glu716Asp) rs2115043836
NM_032415.7(CARD11):c.214C>G (p.Arg72Gly) rs1780505575
NM_032415.7(CARD11):c.2150G>C (p.Gly717Ala)
NM_032415.7(CARD11):c.215G>A (p.Arg72Gln) rs2115093887
NM_032415.7(CARD11):c.2179C>T (p.Pro727Ser)
NM_032415.7(CARD11):c.2198A>G (p.Lys733Arg) rs1779603734
NM_032415.7(CARD11):c.220+19_220+20insCCTTAGGACCTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_032415.7(CARD11):c.220+1G>A rs1554276623
NM_032415.7(CARD11):c.2219T>C (p.Ile740Thr)
NM_032415.7(CARD11):c.221G>A (p.Gly74Asp)
NM_032415.7(CARD11):c.2236C>T (p.Pro746Ser) rs941925891
NM_032415.7(CARD11):c.223C>T (p.Arg75Trp) rs2115090664
NM_032415.7(CARD11):c.224G>A (p.Arg75Gln) rs1064795280
NM_032415.7(CARD11):c.2261A>G (p.Asn754Ser)
NM_032415.7(CARD11):c.2290G>A (p.Asp764Asn) rs1779490616
NM_032415.7(CARD11):c.2293A>G (p.Met765Val)
NM_032415.7(CARD11):c.2305C>G (p.Leu769Val) rs954550725
NM_032415.7(CARD11):c.230T>C (p.Leu77Ser)
NM_032415.7(CARD11):c.2335C>T (p.Arg779Trp)
NM_032415.7(CARD11):c.2342A>G (p.Asn781Ser)
NM_032415.7(CARD11):c.2350A>G (p.Ile784Val)
NM_032415.7(CARD11):c.2388G>C (p.Lys796Asn) rs2115038408
NM_032415.7(CARD11):c.2395G>A (p.Asp799Asn) rs587778152
NM_032415.7(CARD11):c.2397T>A (p.Asp799Glu) rs766040946
NM_032415.7(CARD11):c.2420T>C (p.Met807Thr) rs2115038345
NM_032415.7(CARD11):c.2423A>G (p.Tyr808Cys)
NM_032415.7(CARD11):c.2446T>G (p.Cys816Gly) rs1583372341
NM_032415.7(CARD11):c.2461C>A (p.Pro821Thr)
NM_032415.7(CARD11):c.2462C>G (p.Pro821Arg)
NM_032415.7(CARD11):c.2473C>T (p.His825Tyr) rs929355549
NM_032415.7(CARD11):c.247A>G (p.Lys83Glu)
NM_032415.7(CARD11):c.2487G>T (p.Met829Ile)
NM_032415.7(CARD11):c.2503_2508del (p.Tyr835_Ser836del)
NM_032415.7(CARD11):c.2513C>T (p.Ala838Val)
NM_032415.7(CARD11):c.2516A>G (p.Gln839Arg)
NM_032415.7(CARD11):c.2522_2523delinsAA (p.Leu841Gln)
NM_032415.7(CARD11):c.2539C>A (p.Gln847Lys)
NM_032415.7(CARD11):c.2553C>G (p.His851Gln) rs1562480665
NM_032415.7(CARD11):c.2563C>T (p.Arg855Trp) rs772266095
NM_032415.7(CARD11):c.2564G>C (p.Arg855Pro)
NM_032415.7(CARD11):c.2582C>G (p.Thr861Ser)
NM_032415.7(CARD11):c.2647C>T (p.Pro883Ser) rs777569549
NM_032415.7(CARD11):c.2650C>G (p.Arg884Gly)
NM_032415.7(CARD11):c.2662C>A (p.Arg888Ser) rs142828146
NM_032415.7(CARD11):c.2703+3A>G
NM_032415.7(CARD11):c.2703G>A (p.Gln901=) rs1242710789
NM_032415.7(CARD11):c.2703G>T (p.Gln901His)
NM_032415.7(CARD11):c.2711G>A (p.Ser904Asn) rs754422604
NM_032415.7(CARD11):c.2716T>C (p.Ser906Pro)
NM_032415.7(CARD11):c.2752C>T (p.Arg918Trp) rs769806908
NM_032415.7(CARD11):c.2786G>T (p.Ser929Ile) rs2115032506
NM_032415.7(CARD11):c.2809G>A (p.Ala937Thr)
NM_032415.7(CARD11):c.2822T>C (p.Leu941Ser)
NM_032415.7(CARD11):c.2823G>T (p.Leu941Phe)
NM_032415.7(CARD11):c.2837A>G (p.Glu946Gly)
NM_032415.7(CARD11):c.2839+5A>C
NM_032415.7(CARD11):c.2839+5A>G
NM_032415.7(CARD11):c.2840A>G (p.Glu947Gly)
NM_032415.7(CARD11):c.2853G>C (p.Glu951Asp)
NM_032415.7(CARD11):c.2857G>A (p.Glu953Lys)
NM_032415.7(CARD11):c.2866A>G (p.Lys956Glu)
NM_032415.7(CARD11):c.2870A>C (p.Asn957Thr)
NM_032415.7(CARD11):c.2875A>G (p.Ser959Gly) rs1429376486
NM_032415.7(CARD11):c.2913C>G (p.Cys971Trp) rs61757651
NM_032415.7(CARD11):c.2914G>C (p.Glu972Gln) rs747655872
NM_032415.7(CARD11):c.2918G>A (p.Arg973His)
NM_032415.7(CARD11):c.2923C>T (p.Arg975Trp) rs1064795307
NM_032415.7(CARD11):c.2924G>A (p.Arg975Gln) rs764229454
NM_032415.7(CARD11):c.2926C>T (p.Pro976Ser) rs1779271387
NM_032415.7(CARD11):c.2984C>T (p.Ser995Leu)
NM_032415.7(CARD11):c.3010T>G (p.Cys1004Gly)
NM_032415.7(CARD11):c.3015G>C (p.Lys1005Asn)
NM_032415.7(CARD11):c.3021T>G (p.Asp1007Glu)
NM_032415.7(CARD11):c.3031A>G (p.Arg1011Gly) rs2115026732
NM_032415.7(CARD11):c.305T>G (p.Leu102Arg) rs1424722453
NM_032415.7(CARD11):c.3086A>G (p.Lys1029Arg) rs1779213628
NM_032415.7(CARD11):c.3098C>T (p.Ala1033Val)
NM_032415.7(CARD11):c.3100T>A (p.Phe1034Ile)
NM_032415.7(CARD11):c.3104A>T (p.Glu1035Val)
NM_032415.7(CARD11):c.3107G>A (p.Cys1036Tyr) rs1562476878
NM_032415.7(CARD11):c.3118G>A (p.Ala1040Thr)
NM_032415.7(CARD11):c.3129A>C (p.Glu1043Asp) rs1583360716
NM_032415.7(CARD11):c.3136GCC[1] (p.Ala1047del)
NM_032415.7(CARD11):c.3145-5C>G rs771063736
NM_032415.7(CARD11):c.3145-7C>G
NM_032415.7(CARD11):c.3175G>C (p.Gly1059Arg) rs376446854
NM_032415.7(CARD11):c.3198G>C (p.Lys1066Asn) rs1175693250
NM_032415.7(CARD11):c.3213del (p.Ile1072fs) rs2115023098
NM_032415.7(CARD11):c.3213dup (p.Ile1072fs) rs2115023098
NM_032415.7(CARD11):c.3226A>C (p.Ile1076Leu) rs1779139292
NM_032415.7(CARD11):c.3230G>A (p.Arg1077Gln)
NM_032415.7(CARD11):c.3251A>G (p.Lys1084Arg)
NM_032415.7(CARD11):c.3260+3A>G
NM_032415.7(CARD11):c.3260+4G>C
NM_032415.7(CARD11):c.3268C>G (p.Leu1090Val)
NM_032415.7(CARD11):c.3274C>T (p.Arg1092Ter)
NM_032415.7(CARD11):c.3276_3277inv (p.Pro1093Ser)
NM_032415.7(CARD11):c.3286GAG[2] (p.Glu1098del)
NM_032415.7(CARD11):c.3295T>A (p.Phe1099Ile)
NM_032415.7(CARD11):c.3308G>A (p.Cys1103Tyr)
NM_032415.7(CARD11):c.3319_3321del (p.Glu1107del) rs770299746
NM_032415.7(CARD11):c.3353C>A (p.Ala1118Asp)
NM_032415.7(CARD11):c.3355A>G (p.Thr1119Ala) rs2115017572
NM_032415.7(CARD11):c.3367G>A (p.Asp1123Asn)
NM_032415.7(CARD11):c.3369C>A (p.Asp1123Glu)
NM_032415.7(CARD11):c.3369C>G (p.Asp1123Glu)
NM_032415.7(CARD11):c.3371T>C (p.Met1124Thr) rs2115017537
NM_032415.7(CARD11):c.3374G>C (p.Trp1125Ser) rs1779018486
NM_032415.7(CARD11):c.3380G>A (p.Ser1127Asn)
NM_032415.7(CARD11):c.3388G>A (p.Glu1130Lys)
NM_032415.7(CARD11):c.3400G>A (p.Val1134Ile) rs759681668
NM_032415.7(CARD11):c.3421G>A (p.Glu1141Lys)
NM_032415.7(CARD11):c.3439A>C (p.Ile1147Leu) rs1779016597
NM_032415.7(CARD11):c.349A>C (p.Thr117Pro)
NM_032415.7(CARD11):c.359-20T>G
NM_032415.7(CARD11):c.35T>C (p.Met12Thr)
NM_032415.7(CARD11):c.365A>T (p.Glu122Val)
NM_032415.7(CARD11):c.383C>T (p.Thr128Met) rs2115087053
NM_032415.7(CARD11):c.388T>A (p.Phe130Ile) rs1554276147
NM_032415.7(CARD11):c.392T>G (p.Leu131Arg) rs1562494873
NM_032415.7(CARD11):c.3G>A (p.Met1Ile) rs746425765
NM_032415.7(CARD11):c.427A>T (p.Lys143Ter) rs1562494844
NM_032415.7(CARD11):c.430G>A (p.Ala144Thr) rs1267789041
NM_032415.7(CARD11):c.453G>C (p.Glu151Asp)
NM_032415.7(CARD11):c.465G>T (p.Arg155Ser)
NM_032415.7(CARD11):c.470G>A (p.Arg157Gln)
NM_032415.7(CARD11):c.487AAG[1] (p.Lys164del)
NM_032415.7(CARD11):c.489G>C (p.Lys163Asn)
NM_032415.7(CARD11):c.491A>C (p.Lys164Thr) rs1562494757
NM_032415.7(CARD11):c.500C>T (p.Thr167Met)
NM_032415.7(CARD11):c.518_535del (p.Leu173_Glu178del) rs1583406626
NM_032415.7(CARD11):c.528C>G (p.Phe176Leu)
NM_032415.7(CARD11):c.53A>C (p.Glu18Ala)
NM_032415.7(CARD11):c.559C>T (p.Arg187Trp)
NM_032415.7(CARD11):c.560G>A (p.Arg187Gln)
NM_032415.7(CARD11):c.575A>G (p.Asp192Gly)
NM_032415.7(CARD11):c.634A>G (p.Ser212Gly) rs2115086164
NM_032415.7(CARD11):c.642GAA[1] (p.Lys215del)
NM_032415.7(CARD11):c.645G>C (p.Lys215Asn) rs1293679015
NM_032415.7(CARD11):c.647A>T (p.Asn216Ile) rs2115086129
NM_032415.7(CARD11):c.7+3A>C rs907805565
NM_032415.7(CARD11):c.7+4C>T
NM_032415.7(CARD11):c.701A>C (p.His234Pro) rs1583400914
NM_032415.7(CARD11):c.703C>T (p.Arg235Trp)
NM_032415.7(CARD11):c.752T>C (p.Leu251Pro) rs1780193930
NM_032415.7(CARD11):c.766G>T (p.Asp256Tyr)
NM_032415.7(CARD11):c.772G>A (p.Glu258Lys) rs2115075207
NM_032415.7(CARD11):c.778C>T (p.Arg260Trp)
NM_032415.7(CARD11):c.779G>A (p.Arg260Gln)
NM_032415.7(CARD11):c.781C>T (p.Pro261Ser) rs1562492241
NM_032415.7(CARD11):c.8-5A>G rs2115094396
NM_032415.7(CARD11):c.802G>A (p.Glu268Lys)
NM_032415.7(CARD11):c.812G>C (p.Arg271Pro) rs777590674
NM_032415.7(CARD11):c.824T>C (p.Met275Thr) rs2115074916
NM_032415.7(CARD11):c.82T>C (p.Cys28Arg)
NM_032415.7(CARD11):c.851A>C (p.Gln284Pro) rs2115074800
NM_032415.7(CARD11):c.868G>A (p.Gly290Arg)
NM_032415.7(CARD11):c.874C>T (p.Arg292Cys) rs771790639
NM_032415.7(CARD11):c.883C>G (p.Pro295Ala) rs1378452081
NM_032415.7(CARD11):c.892G>A (p.Asp298Asn)
NM_032415.7(CARD11):c.895A>G (p.Lys299Glu) rs2115072708
NM_032415.7(CARD11):c.89G>A (p.Arg30Gln) rs1554276653
NM_032415.7(CARD11):c.8G>A (p.Gly3Glu)
NM_032415.7(CARD11):c.922G>A (p.Asp308Asn)
NM_032415.7(CARD11):c.922G>C (p.Asp308His)
NM_032415.7(CARD11):c.937C>G (p.Leu313Val) rs753078856
NM_032415.7(CARD11):c.943G>A (p.Asp315Asn)
NM_032415.7(CARD11):c.945C>G (p.Asp315Glu) rs149430714
NM_032415.7(CARD11):c.951G>C (p.Gln317His)
NM_032415.7(CARD11):c.991C>T (p.Arg331Cys)
NM_032415.7(CARD11):c.992G>C (p.Arg331Pro)
NM_032415.7(CARD11):c.998C>T (p.Ala333Val)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.