ClinVar Miner

List of variants studied for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 849
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HGVS dbSNP
BLNK, IVS1DS, A-T, +3
BTK, 1-BP DEL, 1720A
BTK, 1-BP DEL, IVS11DS, +1G
BTK, 1-BP DEL/3-BP INS, CODON 261
BTK, 16-BP INS, NT1263
BTK, 26-BP INS, NT2019
BTK, 4-BP DEL, CODON 527, GTTT
BTK, 6-BP INS, NT2041
BTK, 6.1-KB DEL
BTK, IVS12AS, A-T, -2
CD19, 1-BP INS, 972A
CD19, 2-BP DEL, 1384GA
ICOS, EX2-3 DEL
IGHM, 2-BP DEL, AA
IGHM, 75-KB DEL
IGHM, CYS412GLY
IGHM, IVS4AS, G-A, -1
LRRC8A, 1-BP INS, 2681T, TRANSLOCATION 20
MS4A1, IVS5DS, 11-BP INS AND 2-BP DEL
NC_000004.10:g.152111739_152222852del
NC_000004.11:g.(?_151231361)_(151271331_?)del
NC_000004.11:g.(?_151509180)_(151656538_?)del
NC_000004.11:g.(?_151604683)_(151656538_?)del
NC_000004.11:g.(?_151604683)_(151935814_?)dup
NC_000004.11:g.(?_151656390)_(151850237_?)del
NC_000004.11:g.(?_151682915)_(151935814_?)dup
NC_000004.11:g.(?_151842330)_(151842465_?)del
NC_000010.10:g.(?_104155697)_(104162153_?)dup
NC_000010.10:g.(?_97951709)_(98031175_?)dup
NC_000010.10:g.(?_98031089)_(98031175_?)dup
NC_000014.8:g.106320573A>C rs267606871
NC_000014.8:g.106321212C>T rs281865422
NC_000022.10:g.(?_23915433)_(23922397_?)dup
NC_000022.10:g.(?_23917134)_(23922397_?)del
NC_000022.10:g.(?_23917134)_(23922397_?)dup
NC_000022.10:g.(?_41697339)_(42466321_?)del
NM_000061.2(BTK):c.*116A>C rs700
NM_000061.2(BTK):c.*192G>A rs1057403
NM_000061.2(BTK):c.*334T>G rs183674618
NM_000061.2(BTK):c.*342T>G rs781937023
NM_000061.2(BTK):c.*342_*343delTG rs200445244
NM_000061.2(BTK):c.-105G>T rs1034801451
NM_000061.2(BTK):c.-31+5G>A
NM_000061.2(BTK):c.1001A>C (p.Tyr334Ser) rs128621196
NM_000061.2(BTK):c.1004T>A (p.Val335Asp) rs1569292214
NM_000061.2(BTK):c.1082A>G (p.Tyr361Cys) rs28935478
NM_000061.2(BTK):c.1116G>C (p.Arg372Ser) rs1555978024
NM_000061.2(BTK):c.1138C>T (p.Gln380Ter) rs1569292021
NM_000061.2(BTK):c.121G>A (p.Glu41Lys) rs1057520045
NM_000061.2(BTK):c.1223T>C (p.Leu408Pro) rs128621198
NM_000061.2(BTK):c.1275C>A (p.Tyr425Ter) rs128621199
NM_000061.2(BTK):c.1288A>G (p.Lys430Glu) rs128620184
NM_000061.2(BTK):c.141+11C>T rs138411530
NM_000061.2(BTK):c.141+3_141+4del rs864321661
NM_000061.2(BTK):c.141+3_141+6del rs1555980866
NM_000061.2(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
NM_000061.2(BTK):c.1455C>A (p.Tyr485Ter) rs193922124
NM_000061.2(BTK):c.1475G>A (p.Arg492His) rs782338603
NM_000061.2(BTK):c.1506C>A (p.Cys502Ter) rs41310709
NM_000061.2(BTK):c.1511A>T (p.Asp504Val) rs193922125
NM_000061.2(BTK):c.1516T>C (p.Cys506Arg) rs128621200
NM_000061.2(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000061.2(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000061.2(BTK):c.1567-2A>T rs1555977598
NM_000061.2(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.2(BTK):c.1581_1584del (p.Cys527fs) rs1555977592
NM_000061.2(BTK):c.161del (p.Gly54fs) rs1555980799
NM_000061.2(BTK):c.1630_1631+3delinsGAAA rs1555977580
NM_000061.2(BTK):c.1631+1G>T rs1569291215
NM_000061.2(BTK):c.164C>A (p.Ser55Ter) rs1555980796
NM_000061.2(BTK):c.1673_1680del (p.Lys558fs) rs193922126
NM_000061.2(BTK):c.1684C>T (p.Arg562Trp) rs128621204
NM_000061.2(BTK):c.1685G>C (p.Arg562Pro) rs104894770
NM_000061.2(BTK):c.1706T>C (p.Leu569Pro) rs1555977461
NM_000061.2(BTK):c.1741T>C (p.Trp581Arg) rs128621205
NM_000061.2(BTK):c.1766A>G (p.Glu589Gly) rs128621206
NM_000061.2(BTK):c.176_178AGA[1] (p.Lys60del)
NM_000061.2(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.2(BTK):c.1820C>A (p.Ala607Asp) rs128621208
NM_000061.2(BTK):c.1838G>A (p.Gly613Asp) rs128621209
NM_000061.2(BTK):c.1889T>A (p.Met630Lys) rs128621210
NM_000061.2(BTK):c.1899C>T (p.Cys633=) rs1135363
NM_000061.2(BTK):c.1906G>T (p.Glu636Ter) rs128622211
NM_000061.2(BTK):c.1946del (p.Ser649fs) rs1555976766
NM_000061.2(BTK):c.1955T>C (p.Leu652Pro) rs128622212
NM_000061.2(BTK):c.215dup (p.Asn72fs) rs886041148
NM_000061.2(BTK):c.228_231del (p.Glu76fs) rs864321660
NM_000061.2(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.2(BTK):c.2T>C (p.Met1Thr) rs128620186
NM_000061.2(BTK):c.310-1G>C rs864321662
NM_000061.2(BTK):c.310-2A>G rs864321663
NM_000061.2(BTK):c.338T>A (p.Val113Asp) rs128621190
NM_000061.2(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.2(BTK):c.37C>T (p.Arg13Ter) rs128620187
NM_000061.2(BTK):c.389del (p.Asn130fs) rs864321664
NM_000061.2(BTK):c.391+137dup rs193922127
NM_000061.2(BTK):c.435C>A (p.Cys145Ter) rs1555978891
NM_000061.2(BTK):c.43C>T (p.Gln15Ter) rs128620188
NM_000061.2(BTK):c.472_475del (p.Thr158fs) rs193922128
NM_000061.2(BTK):c.520+15C>T rs782697907
NM_000061.2(BTK):c.557dup (p.Pro187fs) rs864321665
NM_000061.2(BTK):c.588+1G>T rs1569293252
NM_000061.2(BTK):c.588+2T>A rs1555978777
NM_000061.2(BTK):c.588_589insCTACATAG (p.Ile197fs) rs1569293253
NM_000061.2(BTK):c.615G>T (p.Glu205Asp) rs35877704
NM_000061.2(BTK):c.642_643del (p.Ser214fs) rs1569292818
NM_000061.2(BTK):c.653del (p.Lys218fs) rs1569292813
NM_000061.2(BTK):c.655del (p.Val219fs) rs1569292810
NM_000061.2(BTK):c.718G>T (p.Glu240Ter) rs128621191
NM_000061.2(BTK):c.726dup (p.Ile243fs) rs1569292774
NM_000061.2(BTK):c.755G>A (p.Trp252Ter) rs128621192
NM_000061.2(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.2(BTK):c.777-2A>G rs193922129
NM_000061.2(BTK):c.777-3C>G rs193922130
NM_000061.2(BTK):c.799_806del (p.Asn267fs) rs1555978412
NM_000061.2(BTK):c.839+1G>A rs1569292649
NM_000061.2(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.2(BTK):c.840-1G>A rs193922131
NM_000061.2(BTK):c.852A>G (p.Lys284=) rs1057515724
NM_000061.2(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.2(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000061.2(BTK):c.895-10G>A rs370812397
NM_000061.2(BTK):c.895-2A>G rs193922132
NM_000061.2(BTK):c.919A>G (p.Arg307Gly) rs128621195
NM_000061.2(BTK):c.953C>T (p.Ser318Phe) rs1555978197
NM_000061.2(BTK):c.954T>C (p.Ser318=) rs5991926
NM_000061.2(BTK):c.97A>C (p.Thr33Pro) rs128620189
NM_000061.2(BTK):c.998A>G (p.His333Arg) rs193922133
NM_001006658.2(CR2):c.1022G>A (p.Arg341His)
NM_001006658.2(CR2):c.1044G>A (p.Ala348=)
NM_001006658.2(CR2):c.1078C>T (p.Arg360Ter)
NM_001006658.2(CR2):c.1180A>C (p.Asn394His)
NM_001006658.2(CR2):c.1210C>G (p.Pro404Ala)
NM_001006658.2(CR2):c.1225+1G>C rs398122864
NM_001006658.2(CR2):c.1390C>T (p.Pro464Ser) rs41313740
NM_001006658.2(CR2):c.1395A>G (p.Gln465=) rs188078143
NM_001006658.2(CR2):c.1409C>T (p.Ala470Val)
NM_001006658.2(CR2):c.1425A>T (p.Gly475=)
NM_001006658.2(CR2):c.1458T>C (p.Phe486=) rs147378770
NM_001006658.2(CR2):c.1475A>G (p.Asn492Ser)
NM_001006658.2(CR2):c.1508G>A (p.Gly503Glu)
NM_001006658.2(CR2):c.1597A>T (p.Ile533Phe) rs762951469
NM_001006658.2(CR2):c.1617C>T (p.Thr539=) rs34349246
NM_001006658.2(CR2):c.1622G>T (p.Ser541Ile) rs144075435
NM_001006658.2(CR2):c.1659_1660insG (p.Tyr554fs) rs1558192723
NM_001006658.2(CR2):c.1676G>A (p.Gly559Glu) rs143614333
NM_001006658.2(CR2):c.1688G>A (p.Gly563Glu)
NM_001006658.2(CR2):c.1931G>A (p.Cys644Tyr) rs149972318
NM_001006658.2(CR2):c.1944C>G (p.Asn648Lys)
NM_001006658.2(CR2):c.1962A>G (p.Ile654Met)
NM_001006658.2(CR2):c.2006A>G (p.His669Arg) rs139230275
NM_001006658.2(CR2):c.2030C>T (p.Thr677Met) rs142648420
NM_001006658.2(CR2):c.2228C>T (p.Ser743Phe) rs1357626624
NM_001006658.2(CR2):c.2297G>A (p.Trp766Ter) rs398122863
NM_001006658.2(CR2):c.2298G>A (p.Trp766Ter) rs151093663
NM_001006658.2(CR2):c.2352T>C (p.Ile784=) rs142319454
NM_001006658.2(CR2):c.2445A>G (p.Gly815=) rs141282665
NM_001006658.2(CR2):c.249A>C (p.Glu83Asp)
NM_001006658.2(CR2):c.2506C>T (p.Pro836Ser) rs147263584
NM_001006658.2(CR2):c.250T>C (p.Tyr84His)
NM_001006658.2(CR2):c.2586T>A (p.His862Gln)
NM_001006658.2(CR2):c.2611G>T (p.Val871Leu) rs144572703
NM_001006658.2(CR2):c.2649T>C (p.Gly883=) rs1143665
NM_001006658.2(CR2):c.2654G>A (p.Arg885His) rs140808707
NM_001006658.2(CR2):c.2656G>A (p.Val886Met)
NM_001006658.2(CR2):c.2685G>T (p.Trp895Cys)
NM_001006658.2(CR2):c.2723T>C (p.Ile908Thr)
NM_001006658.2(CR2):c.2738C>T (p.Pro913Leu) rs772503117
NM_001006658.2(CR2):c.2743A>G (p.Lys915Glu)
NM_001006658.2(CR2):c.2783G>A (p.Arg928Gln)
NM_001006658.2(CR2):c.2844G>A (p.Glu948=) rs61754518
NM_001006658.2(CR2):c.2863C>T (p.His955Tyr) rs1329384177
NM_001006658.2(CR2):c.2920C>A (p.Pro974Thr) rs1292827746
NM_001006658.2(CR2):c.3047C>T (p.Ser1016Leu)
NM_001006658.2(CR2):c.3100C>G (p.Pro1034Ala) rs1558196448
NM_001006658.2(CR2):c.3187C>T (p.Arg1063Cys) rs145499318
NM_001006658.2(CR2):c.3211C>A (p.Gln1071Lys)
NM_001006658.2(CR2):c.3211C>T (p.Gln1071Ter)
NM_001006658.2(CR2):c.3238C>T (p.Arg1080Ter)
NM_001006658.2(CR2):c.3251C>A (p.Ser1084Tyr) rs142273168
NM_001006658.2(CR2):c.357A>G (p.Lys119=)
NM_001006658.2(CR2):c.375C>T (p.Asn125=) rs138096192
NM_001006658.2(CR2):c.389T>C (p.Val130Ala) rs543886209
NM_001006658.2(CR2):c.424C>T (p.Arg142Ter) rs201017642
NM_001006658.2(CR2):c.452C>T (p.Pro151Leu)
NM_001006658.2(CR2):c.462T>A (p.Cys154Ter)
NM_001006658.2(CR2):c.520G>C (p.Ala174Pro)
NM_001006658.2(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001006658.2(CR2):c.52G>A (p.Val18Ile) rs892246082
NM_001006658.2(CR2):c.599C>T (p.Ser200Leu)
NM_001006658.2(CR2):c.605A>C (p.Lys202Thr) rs893377104
NM_001006658.2(CR2):c.622C>T (p.Pro208Ser)
NM_001006658.2(CR2):c.624C>A (p.Pro208=) rs61759494
NM_001006658.2(CR2):c.624C>G (p.Pro208=) rs61759494
NM_001006658.2(CR2):c.641G>A (p.Arg214His) rs141831783
NM_001006658.2(CR2):c.659G>A (p.Arg220Gln)
NM_001006658.2(CR2):c.665C>T (p.Pro222Leu)
NM_001006658.2(CR2):c.668A>G (p.Asn223Ser)
NM_001006658.2(CR2):c.728A>T (p.Asp243Val)
NM_001006658.2(CR2):c.784G>T (p.Gly262Ter)
NM_001006658.2(CR2):c.7G>T (p.Ala3Ser) rs1423906073
NM_001006658.2(CR2):c.898A>G (p.Ile300Val)
NM_001006658.2(CR2):c.920C>T (p.Pro307Leu)
NM_001006658.2(CR2):c.921G>A (p.Pro307=)
NM_001006658.2(CR2):c.999G>A (p.Gly333=) rs139665677
NM_001039933.3(CD79B):c.211G>A (p.Ala71Thr)
NM_001039933.3(CD79B):c.221A>C (p.Asn74Thr) rs200126941
NM_001039933.3(CD79B):c.241C>T (p.Gln81Ter) rs267606711
NM_001039933.3(CD79B):c.253G>A (p.Glu85Lys)
NM_001039933.3(CD79B):c.289A>G (p.Met97Val)
NM_001039933.3(CD79B):c.315C>T (p.Leu105=) rs116625909
NM_001039933.3(CD79B):c.326C>T (p.Thr109Ile)
NM_001039933.3(CD79B):c.341G>A (p.Arg114Gln)
NM_001039933.3(CD79B):c.365_369delinsGC (p.Phe122del)
NM_001039933.3(CD79B):c.384C>T (p.Asn128=) rs1555598971
NM_001039933.3(CD79B):c.412G>A (p.Gly138Ser) rs121912424
NM_001039933.3(CD79B):c.417A>G (p.Thr139=) rs1567810051
NM_001039933.3(CD79B):c.425G>A (p.Arg142Gln)
NM_001039933.3(CD79B):c.595-6C>G rs372665115
NM_001039933.3(CD79B):c.638C>T (p.Thr213Met)
NM_001039933.3(CD79B):c.68-6A>G rs374896622
NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys) rs879255271
NM_001136139.4(TCF3):c.1755G>A (p.Lys585=) rs1568312916
NM_001322934.2(NFKB2):c.1097G>A (p.Gly366Asp) rs747854969
NM_001322934.2(NFKB2):c.1163A>G (p.Tyr388Cys)
NM_001322934.2(NFKB2):c.1170C>A (p.Ser390=) rs1200632324
NM_001322934.2(NFKB2):c.1229C>T (p.Thr410Met)
NM_001322934.2(NFKB2):c.1262C>T (p.Ala421Val)
NM_001322934.2(NFKB2):c.1269= (p.Pro423=) rs4919633
NM_001322934.2(NFKB2):c.1285A>T (p.Thr429Ser) rs1405716353
NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser) rs202001697
NM_001322934.2(NFKB2):c.1296C>T (p.Cys432=) rs192635220
NM_001322934.2(NFKB2):c.1301C>T (p.Pro434Leu)
NM_001322934.2(NFKB2):c.1340A>G (p.Asn447Ser)
NM_001322934.2(NFKB2):c.1378G>A (p.Ala460Thr)
NM_001322934.2(NFKB2):c.1386C>G (p.Leu462=) rs762807587
NM_001322934.2(NFKB2):c.14A>G (p.Tyr5Cys)
NM_001322934.2(NFKB2):c.1519A>G (p.Ile507Val)
NM_001322934.2(NFKB2):c.1608C>A (p.Ile536=) rs34916280
NM_001322934.2(NFKB2):c.1715C>G (p.Ala572Gly)
NM_001322934.2(NFKB2):c.1736G>A (p.Arg579His) rs200227171
NM_001322934.2(NFKB2):c.1741C>G (p.Leu581Val)
NM_001322934.2(NFKB2):c.1744C>T (p.Leu582Phe)
NM_001322934.2(NFKB2):c.1821= (p.Ala607=) rs4919634
NM_001322934.2(NFKB2):c.1826G>A (p.Arg609Gln) rs200092317
NM_001322934.2(NFKB2):c.1869G>A (p.Gly623=) rs138786808
NM_001322934.2(NFKB2):c.1892G>T (p.Arg631Leu)
NM_001322934.2(NFKB2):c.1962C>T (p.Val654=) rs201623844
NM_001322934.2(NFKB2):c.2001G>A (p.Ala667=)
NM_001322934.2(NFKB2):c.2072-3C>T rs201550645
NM_001322934.2(NFKB2):c.2086G>A (p.Ala696Thr)
NM_001322934.2(NFKB2):c.2094C>T (p.Asn698=) rs11574851
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=) rs200006038
NM_001322934.2(NFKB2):c.2167G>A (p.Asp723Asn) rs199577673
NM_001322934.2(NFKB2):c.216G>A (p.Lys72=) rs369551276
NM_001322934.2(NFKB2):c.2174G>A (p.Arg725Gln)
NM_001322934.2(NFKB2):c.2186G>A (p.Arg729Gln)
NM_001322934.2(NFKB2):c.2239C>T (p.Leu747=) rs11191279
NM_001322934.2(NFKB2):c.2286C>T (p.Ser762=) rs899733509
NM_001322934.2(NFKB2):c.2333T>C (p.Leu778Pro) rs1565213628
NM_001322934.2(NFKB2):c.2350G>A (p.Gly784Arg)
NM_001322934.2(NFKB2):c.2418G>A (p.Thr806=) rs1488705625
NM_001322934.2(NFKB2):c.2467-9T>A rs11574853
NM_001322934.2(NFKB2):c.2544_2547delinsCCTCGG (p.Arg848fs)
NM_001322934.2(NFKB2):c.2556_2563del (p.Arg853fs) rs727502786
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs) rs397514331
NM_001322934.2(NFKB2):c.2571_2575CAGCA[1] (p.Thr859fs) rs1565214594
NM_001322934.2(NFKB2):c.2579C>G (p.Ala860Gly) rs371190206
NM_001322934.2(NFKB2):c.2594A>G (p.Asp865Gly) rs727502787
NM_001322934.2(NFKB2):c.2597G>A (p.Ser866Asn)
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001322934.2(NFKB2):c.2601G>A (p.Ala867=) rs1438477157
NM_001322934.2(NFKB2):c.292C>A (p.His98Asn)
NM_001322934.2(NFKB2):c.396-5C>T rs373971415
NM_001322934.2(NFKB2):c.40G>A (p.Glu14Lys) rs45581936
NM_001322934.2(NFKB2):c.74T>C (p.Val25Ala)
NM_001322934.2(NFKB2):c.921G>A (p.Leu307=) rs146926941
NM_001322934.2(NFKB2):c.992-3del
NM_001364905.1(LRBA):c.1014+7A>C rs375965457
NM_001364905.1(LRBA):c.1015-10del rs753223643
NM_001364905.1(LRBA):c.1015-20dup rs753223643
NM_001364905.1(LRBA):c.1015-8T>C rs762827813
NM_001364905.1(LRBA):c.1109C>G (p.Ala370Gly) rs1391144269
NM_001364905.1(LRBA):c.1144T>A (p.Leu382Met)
NM_001364905.1(LRBA):c.1144T>C (p.Leu382=) rs62344598
NM_001364905.1(LRBA):c.114G>T (p.Gly38=) rs72721739
NM_001364905.1(LRBA):c.116T>C (p.Leu39Pro)
NM_001364905.1(LRBA):c.1189G>A (p.Asp397Asn)
NM_001364905.1(LRBA):c.1259C>T (p.Thr420Met)
NM_001364905.1(LRBA):c.1270C>T (p.Arg424Trp)
NM_001364905.1(LRBA):c.1296T>C (p.Leu432=) rs111753976
NM_001364905.1(LRBA):c.130A>G (p.Ile44Val)
NM_001364905.1(LRBA):c.1316A>G (p.Asn439Ser) rs572309256
NM_001364905.1(LRBA):c.1372G>A (p.Val458Ile)
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217
NM_001364905.1(LRBA):c.1485G>C (p.Leu495Phe)
NM_001364905.1(LRBA):c.149T>C (p.Val50Ala)
NM_001364905.1(LRBA):c.1513A>G (p.Ile505Val) rs35612775
NM_001364905.1(LRBA):c.1541C>T (p.Ala514Val) rs187493744
NM_001364905.1(LRBA):c.1603-4G>T rs143754610
NM_001364905.1(LRBA):c.1659A>G (p.Lys553=) rs747052936
NM_001364905.1(LRBA):c.1689C>A (p.Pro563=) rs115894255
NM_001364905.1(LRBA):c.169G>A (p.Val57Ile)
NM_001364905.1(LRBA):c.1713C>T (p.His571=) rs145812385
NM_001364905.1(LRBA):c.1732A>G (p.Ile578Val)
NM_001364905.1(LRBA):c.175G>T (p.Glu59Ter) rs199469664
NM_001364905.1(LRBA):c.1771T>C (p.Tyr591His)
NM_001364905.1(LRBA):c.1823T>C (p.Ile608Thr)
NM_001364905.1(LRBA):c.1832T>A (p.Val611Asp)
NM_001364905.1(LRBA):c.188G>C (p.Arg63Thr)
NM_001364905.1(LRBA):c.191A>G (p.Asp64Gly)
NM_001364905.1(LRBA):c.1924+4_1924+7del rs1355259232
NM_001364905.1(LRBA):c.192T>G (p.Asp64Glu) rs1222697259
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr) rs148385798
NM_001364905.1(LRBA):c.2032C>T (p.Gln678Ter) rs727503780
NM_001364905.1(LRBA):c.2036C>G (p.Ala679Gly)
NM_001364905.1(LRBA):c.204T>C (p.Thr68=) rs143383047
NM_001364905.1(LRBA):c.2064T>C (p.His688=) rs145198687
NM_001364905.1(LRBA):c.2126A>G (p.Asn709Ser)
NM_001364905.1(LRBA):c.217-9C>T rs1163872504
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val) rs72719663
NM_001364905.1(LRBA):c.2195G>A (p.Ser732Asn)
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile) rs151213445
NM_001364905.1(LRBA):c.224G>C (p.Gly75Ala)
NM_001364905.1(LRBA):c.2259-3C>T
NM_001364905.1(LRBA):c.2279T>C (p.Leu760Pro)
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371
NM_001364905.1(LRBA):c.2345C>T (p.Thr782Ile) rs776922216
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848
NM_001364905.1(LRBA):c.2469G>A (p.Ala823=) rs144453185
NM_001364905.1(LRBA):c.2480G>A (p.Arg827Gln)
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=) rs139428189
NM_001364905.1(LRBA):c.2563_2564delinsTG (p.Glu855Ter) rs1560938296
NM_001364905.1(LRBA):c.2564A>G (p.Glu855Gly) rs1218661905
NM_001364905.1(LRBA):c.2634T>G (p.Pro878=) rs17027154
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr) rs151098394
NM_001364905.1(LRBA):c.2711A>G (p.Tyr904Cys)
NM_001364905.1(LRBA):c.281G>T (p.Cys94Phe)
NM_001364905.1(LRBA):c.2905G>T (p.Val969Leu)
NM_001364905.1(LRBA):c.2927C>T (p.Thr976Met)
NM_001364905.1(LRBA):c.3064G>A (p.Glu1022Lys)
NM_001364905.1(LRBA):c.319C>A (p.Gln107Lys)
NM_001364905.1(LRBA):c.322G>A (p.Ala108Thr)
NM_001364905.1(LRBA):c.3262G>C (p.Glu1088Gln) rs142075710
NM_001364905.1(LRBA):c.3263A>G (p.Glu1088Gly)
NM_001364905.1(LRBA):c.3266A>T (p.Asp1089Val)
NM_001364905.1(LRBA):c.3280C>T (p.Pro1094Ser) rs1553982186
NM_001364905.1(LRBA):c.3331G>T (p.Val1111Leu) rs35250375
NM_001364905.1(LRBA):c.3370A>G (p.Asn1124Asp)
NM_001364905.1(LRBA):c.3373C>T (p.Leu1125=) rs138238756
NM_001364905.1(LRBA):c.3407C>T (p.Pro1136Leu) rs113022115
NM_001364905.1(LRBA):c.3413C>T (p.Ala1138Val) rs1004655907
NM_001364905.1(LRBA):c.3437A>T (p.Asp1146Val)
NM_001364905.1(LRBA):c.3463A>G (p.Ile1155Val)
NM_001364905.1(LRBA):c.3499A>G (p.Thr1167Ala) rs146297781
NM_001364905.1(LRBA):c.349A>G (p.Ile117Val)
NM_001364905.1(LRBA):c.3521C>G (p.Ser1174Cys)
NM_001364905.1(LRBA):c.3568A>G (p.Met1190Val) rs138173151
NM_001364905.1(LRBA):c.3689G>A (p.Gly1230Asp) rs34708681
NM_001364905.1(LRBA):c.3691A>G (p.Ser1231Gly)
NM_001364905.1(LRBA):c.3721A>T (p.Ile1241Phe)
NM_001364905.1(LRBA):c.3743A>G (p.Asn1248Ser) rs140860135
NM_001364905.1(LRBA):c.3748G>C (p.Ala1250Pro)
NM_001364905.1(LRBA):c.3751A>G (p.Thr1251Ala) rs143973442
NM_001364905.1(LRBA):c.3811C>T (p.Arg1271Ter) rs1560914625
NM_001364905.1(LRBA):c.3874G>A (p.Val1292Ile) rs34678304
NM_001364905.1(LRBA):c.3895T>C (p.Ser1299Pro) rs1553981489
NM_001364905.1(LRBA):c.3905C>T (p.Thr1302Ile) rs756627280
NM_001364905.1(LRBA):c.3914G>A (p.Arg1305His) rs144754728
NM_001364905.1(LRBA):c.3914G>C (p.Arg1305Pro) rs144754728
NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=) rs35154927
NM_001364905.1(LRBA):c.3950G>A (p.Arg1317His)
NM_001364905.1(LRBA):c.3995T>C (p.Met1332Thr) rs570345199
NM_001364905.1(LRBA):c.4090G>A (p.Val1364Met)
NM_001364905.1(LRBA):c.4200A>G (p.Ile1400Met) rs1560909790
NM_001364905.1(LRBA):c.4263T>G (p.Ser1421Arg)
NM_001364905.1(LRBA):c.4323G>A (p.Arg1441=) rs145003932
NM_001364905.1(LRBA):c.4371G>T (p.Glu1457Asp)
NM_001364905.1(LRBA):c.4485C>T (p.Gly1495=) rs11735845
NM_001364905.1(LRBA):c.4570-6T>A
NM_001364905.1(LRBA):c.4570-6del rs145452262
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541
NM_001364905.1(LRBA):c.4713G>A (p.Glu1571=) rs75761402
NM_001364905.1(LRBA):c.4817G>T (p.Gly1606Val)
NM_001364905.1(LRBA):c.4855G>T (p.Val1619Leu)
NM_001364905.1(LRBA):c.4876_4877delinsTT (p.Ala1626Leu) rs1560877215
NM_001364905.1(LRBA):c.4901C>T (p.Pro1634Leu)
NM_001364905.1(LRBA):c.4946A>G (p.Asn1649Ser)
NM_001364905.1(LRBA):c.4947T>A (p.Asn1649Lys)
NM_001364905.1(LRBA):c.499C>A (p.Arg167Ser)
NM_001364905.1(LRBA):c.4_16dup (p.Asn6delinsSerTer) rs1554020278
NM_001364905.1(LRBA):c.5004G>A (p.Pro1668=) rs775567440
NM_001364905.1(LRBA):c.501C>T (p.Arg167=)
NM_001364905.1(LRBA):c.5024A>C (p.Asn1675Thr)
NM_001364905.1(LRBA):c.5026G>A (p.Val1676Ile) rs199597592
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133
NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter) rs199469662
NM_001364905.1(LRBA):c.5048G>A (p.Arg1683Gln)
NM_001364905.1(LRBA):c.5062A>G (p.Ile1688Val)
NM_001364905.1(LRBA):c.5066C>T (p.Pro1689Leu)
NM_001364905.1(LRBA):c.5084T>C (p.Val1695Ala) rs200935054
NM_001364905.1(LRBA):c.5100G>T (p.Leu1700=) rs61741557
NM_001364905.1(LRBA):c.5149G>A (p.Val1717Met) rs143003767
NM_001364905.1(LRBA):c.5180T>C (p.Ile1727Thr)
NM_001364905.1(LRBA):c.5219T>G (p.Phe1740Cys)
NM_001364905.1(LRBA):c.5240A>G (p.Asn1747Ser)
NM_001364905.1(LRBA):c.5241T>C (p.Asn1747=) rs72719631
NM_001364905.1(LRBA):c.530A>C (p.Gln177Pro)
NM_001364905.1(LRBA):c.5384+6T>G
NM_001364905.1(LRBA):c.53G>T (p.Gly18Val)
NM_001364905.1(LRBA):c.5435G>C (p.Arg1812Pro)
NM_001364905.1(LRBA):c.545G>A (p.Arg182Gln) rs769037604
NM_001364905.1(LRBA):c.5460T>G (p.Pro1820=) rs565770808
NM_001364905.1(LRBA):c.549+6A>C rs199594598
NM_001364905.1(LRBA):c.5525T>C (p.Val1842Ala)
NM_001364905.1(LRBA):c.5537C>T (p.Ser1846Leu) rs751188122
NM_001364905.1(LRBA):c.5581-14dup rs760075270
NM_001364905.1(LRBA):c.5645+2T>A
NM_001364905.1(LRBA):c.5744C>T (p.Ala1915Val)
NM_001364905.1(LRBA):c.5831A>G (p.Tyr1944Cys)
NM_001364905.1(LRBA):c.5857C>G (p.Leu1953Val)
NM_001364905.1(LRBA):c.5899G>A (p.Ala1967Thr)
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)
NM_001364905.1(LRBA):c.5942G>A (p.Arg1981His)
NM_001364905.1(LRBA):c.5962G>A (p.Asp1988Asn)
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351
NM_001364905.1(LRBA):c.6010C>T (p.His2004Tyr)
NM_001364905.1(LRBA):c.6046+1904A>G rs908422044
NM_001364905.1(LRBA):c.6046+1919G>A
NM_001364905.1(LRBA):c.6049A>C (p.Thr2017Pro)
NM_001364905.1(LRBA):c.6074G>A (p.Gly2025Glu) rs778545671
NM_001364905.1(LRBA):c.6163G>A (p.Val2055Met) rs138428438
NM_001364905.1(LRBA):c.6179T>C (p.Leu2060Ser)
NM_001364905.1(LRBA):c.6192C>T (p.Ala2064=)
NM_001364905.1(LRBA):c.6214C>T (p.Pro2072Ser)
NM_001364905.1(LRBA):c.6321C>T (p.Ile2107=) rs199753191
NM_001364905.1(LRBA):c.6322G>A (p.Asp2108Asn) rs142598024
NM_001364905.1(LRBA):c.6378G>T (p.Glu2126Asp) rs377051616
NM_001364905.1(LRBA):c.6387A>C (p.Ser2129=) rs144748889
NM_001364905.1(LRBA):c.6388A>G (p.Ile2130Val)
NM_001364905.1(LRBA):c.6403T>C (p.Tyr2135His)
NM_001364905.1(LRBA):c.6415A>G (p.Asn2139Asp)
NM_001364905.1(LRBA):c.6438G>C (p.Met2146Ile)
NM_001364905.1(LRBA):c.6443A>G (p.Asn2148Ser) rs143949228
NM_001364905.1(LRBA):c.6445_6446AG[1] (p.Arg2149fs) rs1561254290
NM_001364905.1(LRBA):c.6574C>T (p.Arg2192Cys)
NM_001364905.1(LRBA):c.6575G>A (p.Arg2192His)
NM_001364905.1(LRBA):c.6608G>A (p.Arg2203Gln)
NM_001364905.1(LRBA):c.6620_6621GA[2] (p.Glu2208fs) rs727503779
NM_001364905.1(LRBA):c.6662T>C (p.Ile2221Thr)
NM_001364905.1(LRBA):c.6712G>T (p.Val2238Phe) rs1554034100
NM_001364905.1(LRBA):c.6718A>G (p.Thr2240Ala)
NM_001364905.1(LRBA):c.6736G>A (p.Glu2246Lys)
NM_001364905.1(LRBA):c.6781-3C>T rs58873298
NM_001364905.1(LRBA):c.6852A>C (p.Gln2284His)
NM_001364905.1(LRBA):c.6921A>G (p.Ile2307Met)
NM_001364905.1(LRBA):c.6968A>G (p.Asp2323Gly)
NM_001364905.1(LRBA):c.6973G>T (p.Ala2325Ser)
NM_001364905.1(LRBA):c.6978T>C (p.Asp2326=) rs1172980980
NM_001364905.1(LRBA):c.7007G>A (p.Trp2336Ter)
NM_001364905.1(LRBA):c.7021C>T (p.Arg2341Cys)
NM_001364905.1(LRBA):c.7077G>A (p.Met2359Ile) rs146268782
NM_001364905.1(LRBA):c.7098T>C (p.Tyr2366=) rs751952359
NM_001364905.1(LRBA):c.7115A>G (p.Asp2372Gly)
NM_001364905.1(LRBA):c.7187A>G (p.Asn2396Ser) rs149731019
NM_001364905.1(LRBA):c.7256A>C (p.Tyr2419Ser) rs376374926
NM_001364905.1(LRBA):c.7258A>G (p.Lys2420Glu)
NM_001364905.1(LRBA):c.7292A>G (p.Asn2431Ser)
NM_001364905.1(LRBA):c.7358G>A (p.Arg2453Lys)
NM_001364905.1(LRBA):c.7364C>G (p.Ala2455Gly) rs542791563
NM_001364905.1(LRBA):c.737A>G (p.Asn246Ser)
NM_001364905.1(LRBA):c.7403C>T (p.Ser2468Phe)
NM_001364905.1(LRBA):c.7404T>C (p.Ser2468=) rs150550923
NM_001364905.1(LRBA):c.7464G>A (p.Met2488Ile)
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982
NM_001364905.1(LRBA):c.7569C>T (p.Pro2523=) rs1372828165
NM_001364905.1(LRBA):c.7630+10G>C rs57901153
NM_001364905.1(LRBA):c.7637A>G (p.Gln2546Arg) rs769697590
NM_001364905.1(LRBA):c.7642G>T (p.Ala2548Ser) rs780327383
NM_001364905.1(LRBA):c.7687C>T (p.Leu2563Phe) rs202014892
NM_001364905.1(LRBA):c.7801G>A (p.Val2601Ile)
NM_001364905.1(LRBA):c.7840A>G (p.Thr2614Ala) rs148991943
NM_001364905.1(LRBA):c.7859T>G (p.Ile2620Ser)
NM_001364905.1(LRBA):c.7865T>C (p.Val2622Ala) rs541116943
NM_001364905.1(LRBA):c.7878T>C (p.His2626=) rs946590569
NM_001364905.1(LRBA):c.787C>G (p.Leu263Val) rs143625481
NM_001364905.1(LRBA):c.7934A>T (p.Tyr2645Phe)
NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser) rs199469663
NM_001364905.1(LRBA):c.8013A>C (p.Pro2671=) rs1553994424
NM_001364905.1(LRBA):c.8024C>T (p.Thr2675Ile) rs202244838
NM_001364905.1(LRBA):c.802C>T (p.His268Tyr)
NM_001364905.1(LRBA):c.8036G>A (p.Arg2679Gln)
NM_001364905.1(LRBA):c.8049C>T (p.Thr2683=) rs144225937
NM_001364905.1(LRBA):c.8071T>G (p.Cys2691Gly) rs1560963757
NM_001364905.1(LRBA):c.8078C>T (p.Ala2693Val)
NM_001364905.1(LRBA):c.8088G>A (p.Ala2696=) rs78563281
NM_001364905.1(LRBA):c.8101_8103del (p.Val2701del) rs1560963643
NM_001364905.1(LRBA):c.8106G>C (p.Leu2702Phe) rs34662958
NM_001364905.1(LRBA):c.8248G>A (p.Gly2750Ser)
NM_001364905.1(LRBA):c.8256C>A (p.Phe2752Leu)
NM_001364905.1(LRBA):c.8317G>A (p.Ala2773Thr)
NM_001364905.1(LRBA):c.8328G>A (p.Leu2776=) rs116828023
NM_001364905.1(LRBA):c.8332C>T (p.Arg2778Ter)
NM_001364905.1(LRBA):c.8440C>T (p.Arg2814Trp)
NM_001364905.1(LRBA):c.8441G>A (p.Arg2814Gln)
NM_001364905.1(LRBA):c.8458T>C (p.Tyr2820His)
NM_001364905.1(LRBA):c.8461G>A (p.Asp2821Asn) rs191145485
NM_001364905.1(LRBA):c.8513A>C (p.Tyr2838Ser)
NM_001364905.1(LRBA):c.8531G>A (p.Trp2844Ter) rs1323561325
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687
NM_001364905.1(LRBA):c.894+6T>C
NM_001364905.1(LRBA):c.89G>C (p.Gly30Ala)
NM_001364905.1(LRBA):c.913G>A (p.Val305Ile)
NM_001364905.1(LRBA):c.950G>A (p.Arg317Gln) rs151021623
NM_001770.5(CD19):c.1042T>C (p.Tyr348His)
NM_001770.5(CD19):c.1464del (p.Ser489fs) rs886037921
NM_001770.5(CD19):c.156G>C (p.Trp52Cys) rs886037920
NM_001770.5(CD19):c.1635del (p.Gly546fs) rs774006181
NM_001770.5(CD19):c.1653_*9delins23
NM_001770.5(CD19):c.947-1G>T rs1567506566
NM_001783.3(CD79A):c.188A>G (p.Asn63Ser)
NM_001783.3(CD79A):c.198G>A (p.Trp66Ter) rs1568801716
NM_001783.3(CD79A):c.21C>T (p.Val7=) rs782746615
NM_001783.3(CD79A):c.224C>A (p.Thr75Lys)
NM_001783.3(CD79A):c.258C>A (p.Asp86Glu) rs587778166
NM_001783.3(CD79A):c.269C>T (p.Thr90Met)
NM_001783.3(CD79A):c.370C>T (p.Arg124Cys) rs144006380
NM_001783.3(CD79A):c.371G>A (p.Arg124His) rs144367487
NM_001783.3(CD79A):c.419C>A (p.Thr140Asn) rs148797987
NM_001783.3(CD79A):c.419C>T (p.Thr140Ile)
NM_001783.3(CD79A):c.502C>G (p.Arg168Gly) rs1555844064
NM_001783.3(CD79A):c.534C>T (p.Ala178=) rs367608135
NM_001783.3(CD79A):c.593T>C (p.Met198Thr) rs532288711
NM_001783.3(CD79A):c.64T>A (p.Ser22Thr)
NM_001877.5(CR2):c.243del (p.Lys81fs)
NM_001877.5(CR2):c.3012-8_3012-7del rs112859639
NM_001877.5(CR2):c.721_722del (p.Phe241fs) rs749636258
NM_003200.5(TCF3):c.229G>A (p.Glu77Lys) rs138963927
NM_003809.3(TNFSF12):c.177G>C (p.Glu59Asp)
NM_003809.3(TNFSF12):c.205_207dup (p.Ser69dup) rs753259588
NM_003809.3(TNFSF12):c.269G>A (p.Arg90Gln)
NM_003809.3(TNFSF12):c.338-9A>G rs114577645
NM_003809.3(TNFSF12):c.42G>A (p.Gly14=) rs1170763703
NM_003809.3(TNFSF12):c.43G>A (p.Glu15Lys) rs768061768
NM_003809.3(TNFSF12):c.443G>A (p.Arg148His)
NM_003809.3(TNFSF12):c.450C>T (p.Ile150=) rs147597489
NM_003809.3(TNFSF12):c.498+9del rs1356188583
NM_003809.3(TNFSF12):c.597G>A (p.Ala199=) rs143039184
NM_003809.3(TNFSF12):c.609C>T (p.Leu203=) rs140608168
NM_003809.3(TNFSF12):c.642G>T (p.Gly214=) rs4968189
NM_003809.3(TNFSF12):c.64G>C (p.Val22Leu)
NM_003809.3(TNFSF12):c.673C>T (p.Arg225Trp)
NM_003809.3(TNFSF12):c.679C>T (p.Arg227Cys) rs1414804824
NM_003809.3(TNFSF12):c.716T>C (p.Phe239Ser)
NM_003998.4(NFKB1):c.1752+1G>A rs1560711146
NM_003998.4(NFKB1):c.317dup (p.Asn106fs) rs1560679469
NM_003998.4(NFKB1):c.465dup (p.Ala156fs) rs869320754
NM_003998.4(NFKB1):c.730+4A>G rs869320688
NM_003998.4(NFKB1):c.835+2T>G rs869320689
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_004356.3(CD81):c.182-5G>A rs562261414
NM_004356.3(CD81):c.561+1G>A rs587776775
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys) rs28730670
NM_005026.5(PIK3CD):c.1002C>G (p.Asn334Lys)
NM_005026.5(PIK3CD):c.1002C>T (p.Asn334=) rs28730670
NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=) rs28730671
NM_005026.5(PIK3CD):c.1065C>T (p.Cys355=) rs770064539
NM_005026.5(PIK3CD):c.112C>T (p.Arg38Cys)
NM_005026.5(PIK3CD):c.1189G>A (p.Val397Met)
NM_005026.5(PIK3CD):c.1242G>A (p.Ala414=)
NM_005026.5(PIK3CD):c.1246T>C (p.Cys416Arg) rs587777390
NM_005026.5(PIK3CD):c.1319A>G (p.Tyr440Cys)
NM_005026.5(PIK3CD):c.1339+3C>T
NM_005026.5(PIK3CD):c.1366A>G (p.Thr456Ala) rs28730674
NM_005026.5(PIK3CD):c.1379G>A (p.Arg460His) rs373779625
NM_005026.5(PIK3CD):c.141+3A>G
NM_005026.5(PIK3CD):c.142-3C>T
NM_005026.5(PIK3CD):c.1513G>A (p.Glu505Lys) rs545136223
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) rs587777389
NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly) rs1557669079
NM_005026.5(PIK3CD):c.1709C>T (p.Ser570Phe)
NM_005026.5(PIK3CD):c.1777G>C (p.Gly593Arg) rs143068130
NM_005026.5(PIK3CD):c.1802G>A (p.Arg601Gln)
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626
NM_005026.5(PIK3CD):c.1863C>T (p.Tyr621=) rs151235777
NM_005026.5(PIK3CD):c.1953C>T (p.Leu651=) rs140468930
NM_005026.5(PIK3CD):c.1955+5C>T
NM_005026.5(PIK3CD):c.1959C>T (p.Ser653=) rs536302735
NM_005026.5(PIK3CD):c.2074C>G (p.Leu692Val)
NM_005026.5(PIK3CD):c.2168C>T (p.Ala723Val)
NM_005026.5(PIK3CD):c.2214C>A (p.Ser738Arg) rs755934302
NM_005026.5(PIK3CD):c.2311G>A (p.Gly771Ser)
NM_005026.5(PIK3CD):c.2314G>A (p.Gly772Ser) rs149376192
NM_005026.5(PIK3CD):c.2319C>T (p.Ser773=) rs139848768
NM_005026.5(PIK3CD):c.2320G>A (p.Val774Met)
NM_005026.5(PIK3CD):c.236_237del (p.Gln79fs) rs1553168726
NM_005026.5(PIK3CD):c.2454C>T (p.Thr818=) rs140234838
NM_005026.5(PIK3CD):c.2698A>G (p.Met900Val) rs1553171728
NM_005026.5(PIK3CD):c.2820T>C (p.His940=) rs28730679
NM_005026.5(PIK3CD):c.2838G>A (p.Lys946=) rs1553171834
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=) rs143168081
NM_005026.5(PIK3CD):c.2997G>A (p.Lys999=)
NM_005026.5(PIK3CD):c.3029A>C (p.Glu1010Ala) rs142050444
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005026.5(PIK3CD):c.3093G>C (p.Val1031=) rs149090253
NM_005026.5(PIK3CD):c.371-3C>T rs113176101
NM_005026.5(PIK3CD):c.371-4G>A rs775036315
NM_005026.5(PIK3CD):c.371-5C>T rs149617980
NM_005026.5(PIK3CD):c.436T>A (p.Phe146Ile) rs142285826
NM_005026.5(PIK3CD):c.521C>T (p.Ser174Leu)
NM_005026.5(PIK3CD):c.557C>T (p.Pro186Leu)
NM_005026.5(PIK3CD):c.580G>A (p.Val194Ile)
NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys)
NM_005026.5(PIK3CD):c.633C>T (p.Asp211=) rs757257476
NM_005026.5(PIK3CD):c.639G>A (p.Pro213=) rs374739511
NM_005026.5(PIK3CD):c.678A>G (p.Thr226=) rs2230735
NM_005026.5(PIK3CD):c.692C>T (p.Pro231Leu)
NM_005026.5(PIK3CD):c.708G>A (p.Pro236=) rs145697393
NM_005026.5(PIK3CD):c.765G>A (p.Pro255=) rs928182057
NM_005026.5(PIK3CD):c.780+3G>A
NM_005026.5(PIK3CD):c.799C>T (p.His267Tyr)
NM_005026.5(PIK3CD):c.854T>C (p.Met285Thr) rs557471275
NM_005026.5(PIK3CD):c.859G>C (p.Asp287His)
NM_005026.5(PIK3CD):c.886G>A (p.Val296Ile) rs28730668
NM_005026.5(PIK3CD):c.931-9G>C rs28730669
NM_005026.5(PIK3CD):c.935C>G (p.Ser312Cys) rs61755420
NM_005026.5(PIK3CD):c.940G>T (p.Val314Leu)
NM_006060.5(IKZF1):c.161-8388_589+2308del
NM_006060.6(IKZF1):c.485G>A (p.Arg162Gln) rs770551610
NM_006060.6(IKZF1):c.485G>T (p.Arg162Leu) rs770551610
NM_006060.6(IKZF1):c.500A>G (p.His167Arg) rs869312884
NM_006060.6(IKZF1):c.551G>A (p.Arg184Gln) rs869312885
NM_006060.6(IKZF1):c.584A>G (p.His195Arg) rs1131690788
NM_006060.6(IKZF1):c.629A>G (p.Tyr210Cys) rs869312883
NM_006060.6(IKZF1):c.64G>A (p.Asp22Asn) rs1245618829
NM_006060.6(IKZF1):c.814G>A (p.Ala272Thr) rs778820674
NM_012092.3(ICOS):c.150A>G (p.Gln50=) rs55972840
NM_012092.3(ICOS):c.186C>T (p.Leu62=) rs1553499319
NM_012092.3(ICOS):c.394+2T>C rs1559035937
NM_012092.3(ICOS):c.401A>C (p.Gln134Pro) rs367905290
NM_012092.3(ICOS):c.40C>T (p.Arg14Cys) rs77411896
NM_012092.3(ICOS):c.501+6C>G rs4264550
NM_012092.3(ICOS):c.501+7G>A rs57149344
NM_012092.3(ICOS):c.502A>C (p.Lys168Gln)
NM_012092.3(ICOS):c.531C>T (p.Asn177=) rs370645286
NM_012092.3(ICOS):c.58+1G>A
NM_012092.3(ICOS):c.58+9T>G rs140049646
NM_012092.3(ICOS):c.586+2T>A rs1559036416
NM_012092.3(ICOS):c.589G>A (p.Val197Met)
NM_012452.2(TNFRSF13B):c.*86_*88del rs150068036
NM_012452.2(TNFRSF13B):c.145T>C (p.Ser49Pro) rs374547688
NM_012452.2(TNFRSF13B):c.165C>T (p.Asn55=) rs756655390
NM_012452.2(TNFRSF13B):c.178C>T (p.Arg60Cys)
NM_012452.2(TNFRSF13B):c.17G>A (p.Arg6Gln) rs747078163
NM_012452.2(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875
NM_012452.2(TNFRSF13B):c.215G>A (p.Arg72His) rs55916807
NM_012452.2(TNFRSF13B):c.21C>T (p.Ser7=)
NM_012452.2(TNFRSF13B):c.222_226GCAAG[1] (p.Gly76fs)
NM_012452.2(TNFRSF13B):c.227G>A (p.Gly76Asp)
NM_012452.2(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876
NM_012452.2(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877
NM_012452.2(TNFRSF13B):c.290C>G (p.Pro97Arg) rs754139414
NM_012452.2(TNFRSF13B):c.291T>G (p.Pro97=) rs35062843
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.2(TNFRSF13B):c.311G>A (p.Cys104Tyr)
NM_012452.2(TNFRSF13B):c.346C>A (p.Pro116Thr)
NM_012452.2(TNFRSF13B):c.364C>T (p.Arg122Trp)
NM_012452.2(TNFRSF13B):c.431C>A (p.Ser144Ter) rs104894650
NM_012452.2(TNFRSF13B):c.431C>G (p.Ser144Ter) rs104894650
NM_012452.2(TNFRSF13B):c.452C>T (p.Pro151Leu) rs200037919
NM_012452.2(TNFRSF13B):c.453G>C (p.Pro151=) rs768819413
NM_012452.2(TNFRSF13B):c.468T>G (p.Ser156Arg)
NM_012452.2(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882
NM_012452.2(TNFRSF13B):c.49del (p.Gln17fs) rs1555550717
NM_012452.2(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621
NM_012452.2(TNFRSF13B):c.515G>A (p.Cys172Tyr) rs751216929
NM_012452.2(TNFRSF13B):c.519C>T (p.Ala173=) rs151139237
NM_012452.2(TNFRSF13B):c.532T>C (p.Phe178Leu) rs764319738
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883
NM_012452.2(TNFRSF13B):c.543G>A (p.Ala181=)
NM_012452.2(TNFRSF13B):c.560_562AGA[1] (p.Lys188del) rs376630110
NM_012452.2(TNFRSF13B):c.563A>T (p.Lys188Met) rs74811083
NM_012452.2(TNFRSF13B):c.566G>T (p.Arg189Met) rs199777698
NM_012452.2(TNFRSF13B):c.567G>C (p.Arg189Ser)
NM_012452.2(TNFRSF13B):c.567_568delinsTT (p.Arg189_Gly190delinsSerTrp)
NM_012452.2(TNFRSF13B):c.568G>A (p.Gly190Arg)
NM_012452.2(TNFRSF13B):c.572dup (p.Asp191fs) rs769165409
NM_012452.2(TNFRSF13B):c.577T>C (p.Cys193Arg) rs764125338
NM_012452.2(TNFRSF13B):c.579C>A (p.Cys193Ter)
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) rs121908379
NM_012452.2(TNFRSF13B):c.58C>T (p.Arg20Cys)
NM_012452.2(TNFRSF13B):c.592C>T (p.Arg198Cys) rs140781824
NM_012452.2(TNFRSF13B):c.604C>T (p.Arg202Cys) rs143562358
NM_012452.2(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649
NM_012452.2(TNFRSF13B):c.61+10C>T rs148297590
NM_012452.2(TNFRSF13B):c.61+1G>T
NM_012452.2(TNFRSF13B):c.631+8C>T rs1210149250
NM_012452.2(TNFRSF13B):c.638C>T (p.Ala213Val)
NM_012452.2(TNFRSF13B):c.641T>C (p.Met214Thr) rs144560464
NM_012452.2(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729
NM_012452.2(TNFRSF13B):c.706G>T (p.Glu236Ter) rs201021960
NM_012452.2(TNFRSF13B):c.716C>T (p.Ala239Val) rs375891337
NM_012452.2(TNFRSF13B):c.722C>T (p.Thr241Met)
NM_012452.2(TNFRSF13B):c.740C>T (p.Thr247Met)
NM_012452.2(TNFRSF13B):c.754G>A (p.Asp252Asn) rs111439115
NM_012452.2(TNFRSF13B):c.76T>C (p.Trp26Arg)
NM_012452.2(TNFRSF13B):c.776G>A (p.Trp259Ter)
NM_012452.2(TNFRSF13B):c.797C>T (p.Thr266Ile) rs752825527
NM_012452.2(TNFRSF13B):c.81G>A (p.Thr27=) rs8072293
NM_012452.2(TNFRSF13B):c.823C>T (p.Pro275Ser)
NM_012452.2(TNFRSF13B):c.828C>G (p.Asp276Glu) rs144383122
NM_012452.2(TNFRSF13B):c.838G>C (p.Gly280Arg)
NM_012452.2(TNFRSF13B):c.857C>T (p.Ala286Val)
NM_012452.2(TNFRSF13B):c.93_94GA[3] (p.Ser33fs)
NM_013314.3(BLNK):c.1021G>A (p.Val341Ile)
NM_013314.3(BLNK):c.113+4A>T
NM_013314.3(BLNK):c.114delG rs1554906579
NM_013314.3(BLNK):c.1196G>A (p.Arg399Gln)
NM_013314.3(BLNK):c.178G>A (p.Glu60Lys)
NM_013314.3(BLNK):c.195C>T (p.Ser65=) rs12261820
NM_013314.3(BLNK):c.196G>A (p.Asp66Asn)
NM_013314.3(BLNK):c.254T>C (p.Val85Ala)
NM_013314.3(BLNK):c.262G>A (p.Ala88Thr) rs144903484
NM_013314.3(BLNK):c.270G>A (p.Glu90=) rs17111469
NM_013314.3(BLNK):c.321G>A (p.Pro107=) rs782386441
NM_013314.3(BLNK):c.335T>C (p.Leu112Pro) rs1434331471
NM_013314.3(BLNK):c.472G>T (p.Ala158Ser) rs148612299
NM_013314.3(BLNK):c.48G>A (p.Arg16=) rs11540858
NM_013314.3(BLNK):c.526-5G>C rs17111459
NM_013314.3(BLNK):c.526-6T>G
NM_013314.3(BLNK):c.596C>G (p.Pro199Arg)
NM_013314.3(BLNK):c.648G>A (p.Thr216=) rs782356586
NM_013314.3(BLNK):c.652G>A (p.Ala218Thr)
NM_013314.3(BLNK):c.659C>T (p.Pro220Leu)
NM_013314.3(BLNK):c.680G>A (p.Arg227Gln)
NM_013314.3(BLNK):c.71A>G (p.Asp24Gly)
NM_013314.3(BLNK):c.780A>G (p.Pro260=) rs1554897574
NM_013314.3(BLNK):c.807T>G (p.Ser269Arg)
NM_013314.3(BLNK):c.845G>A (p.Arg282Gln)
NM_013314.3(BLNK):c.88G>C (p.Gly30Arg) rs143109144
NM_013314.3(BLNK):c.923T>C (p.Ile308Thr) rs144266674
NM_013314.3(BLNK):c.926C>T (p.Pro309Leu) rs1177361907
NM_013314.3(BLNK):c.957A>C (p.Pro319=) rs149590334
NM_020070.4(IGLL1):c.197G>A (p.Arg66Gln)
NM_020070.4(IGLL1):c.207-9T>A rs201800585
NM_020070.4(IGLL1):c.21G>C (p.Gln7His)
NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln)
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_020070.4(IGLL1):c.276C>T (p.Asn92=) rs116275804
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys) rs116041505
NM_020070.4(IGLL1):c.300C>T (p.Ser100=) rs115303391
NM_020070.4(IGLL1):c.301G>A (p.Gly101Arg)
NM_020070.4(IGLL1):c.309G>A (p.Gln103=) rs114285337
NM_020070.4(IGLL1):c.316G>A (p.Val106Ile)
NM_020070.4(IGLL1):c.322+3_322+6del rs1184765604
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) rs149986237
NM_020070.4(IGLL1):c.336C>T (p.Ala112=) rs140494226
NM_020070.4(IGLL1):c.362C>T (p.Pro121Leu)
NM_020070.4(IGLL1):c.368C>G (p.Ser123Cys)
NM_020070.4(IGLL1):c.377T>C (p.Leu126Pro)
NM_020070.4(IGLL1):c.385A>C (p.Asn129His)
NM_020070.4(IGLL1):c.393T>C (p.Ala131=) rs1064424
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) rs112775194
NM_020070.4(IGLL1):c.458G>T (p.Gly153Val)
NM_020070.4(IGLL1):c.460A>T (p.Thr154Ser)
NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu) rs145176864
NM_020070.4(IGLL1):c.475G>A (p.Gly159Ser) rs139571703
NM_020070.4(IGLL1):c.478G>A (p.Val160Met)
NM_020070.4(IGLL1):c.485T>A (p.Met162Lys) rs111903752
NM_020070.4(IGLL1):c.507C>T (p.Ser169=) rs74519217
NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met) rs1555903974
NM_020070.4(IGLL1):c.521C>T (p.Ala174Val)
NM_020070.4(IGLL1):c.527G>A (p.Ser176Asn)
NM_020070.4(IGLL1):c.549C>T (p.Pro183=) rs75088277
NM_020070.4(IGLL1):c.553C>T (p.Gln185Ter) rs1569069105
NM_020070.4(IGLL1):c.566G>A (p.Arg189His) rs8138122
NM_020070.4(IGLL1):c.606_609delinsTGCA (p.Val203Ala) rs1569069031
NM_020070.4(IGLL1):c.607G>A (p.Val203Met) rs771552908
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) rs139491925
NM_020070.4(IGLL1):c.618G>A (p.Thr206=) rs147356355
NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter) rs74315491
NM_021601.4(CD79A):c.265+115G>A
NM_021601.4(CD79A):c.266-2A>G
NM_021803.4(IL21):c.146T>C (p.Leu49Pro) rs587777338
NM_052945.3(TNFRSF13C):c.122C>T (p.Pro41Leu) rs1556159000
NM_052945.3(TNFRSF13C):c.132A>G (p.Lys44=) rs920471641
NM_052945.3(TNFRSF13C):c.137-7del rs1299671576
NM_052945.3(TNFRSF13C):c.173A>T (p.Gln58Leu)
NM_052945.3(TNFRSF13C):c.181G>A (p.Glu61Lys) rs1052712048
NM_052945.3(TNFRSF13C):c.191_192delinsTT (p.Gly64Val) rs1556157858
NM_052945.3(TNFRSF13C):c.213G>A (p.Ala71=) rs767759337
NM_052945.3(TNFRSF13C):c.229C>T (p.Leu77=) rs140820836
NM_052945.3(TNFRSF13C):c.264A>G (p.Ala88=) rs778024793
NM_052945.3(TNFRSF13C):c.282C>T (p.Val94=) rs190252814
NM_052945.3(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940
NM_052945.3(TNFRSF13C):c.325C>T (p.Arg109Cys)
NM_052945.3(TNFRSF13C):c.367+10G>T rs1052448266
NM_052945.3(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766
NM_052945.3(TNFRSF13C):c.478A>G (p.Ser160Gly) rs1569421592
NM_052945.3(TNFRSF13C):c.485C>T (p.Pro162Leu)
NM_052945.3(TNFRSF13C):c.534_543delinsAATAGCAGG (p.Ala179fs)
NM_052945.3(TNFRSF13C):c.60C>T (p.Val20=) rs373828157
NM_052945.3(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543
NM_152866.2(MS4A1):c.315G>C (p.Glu105Asp) rs267603055
NM_181523.3(PIK3R1):c.1019+6G>C rs749016701
NM_181523.3(PIK3R1):c.1020-3C>T rs200653607
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=) rs3730090
NM_181523.3(PIK3R1):c.1185A>G (p.Pro395=) rs149905863
NM_181523.3(PIK3R1):c.1300-10A>C rs377666209
NM_181523.3(PIK3R1):c.1300-1G>C rs1554051033
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) rs1057519838
NM_181523.3(PIK3R1):c.1396T>C (p.Leu466=) rs754454562
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1425+1G>C rs587777709
NM_181523.3(PIK3R1):c.1425+1G>T rs587777709
NM_181523.3(PIK3R1):c.1425+2T>A rs1554051075
NM_181523.3(PIK3R1):c.1425+2T>G rs1554051075
NM_181523.3(PIK3R1):c.1425+2_1425+3del rs1554051067
NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser)
NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) rs1561299903
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=) rs73768883
NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn) rs755043940
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=) rs3729981
NM_181523.3(PIK3R1):c.427+4A>C
NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu)
NM_181523.3(PIK3R1):c.536T>C (p.Val179Ala)
NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val)
NM_181523.3(PIK3R1):c.571C>T (p.Leu191=) rs533077843
NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn)
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601
NM_181523.3(PIK3R1):c.634+8T>C rs368138177
NM_181523.3(PIK3R1):c.635-7C>G rs1561289181
NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys)
NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr) rs150689648
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=) rs34175949
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met)
NM_181523.3(PIK3R1):c.837-7C>T rs571365105
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter) rs397509384
NM_181523.3(PIK3R1):c.917-1513G>T rs144312303
NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser) rs142439210
NM_181523.3(PIK3R1):c.965del (p.Met322fs)
NM_182972.2(IRF2BP2):c.1652G>A (p.Ser551Asn) rs1553319504
SH3KBP1, 247.5-KB DEL
TNFRSF13B, 1-BP INS, 204A
TNFRSF13C, 24-BP DEL, NT89
X57331.1:g.275C>A

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