NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter)
|
rs151093663
|
0.00065
|
NM_203447.4(DOCK8):c.54-1G>T
|
rs192864327
|
0.00036
|
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)
|
rs72553877
|
0.00034
|
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)
|
rs72553875
|
0.00031
|
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr)
|
rs72553879
|
0.00016
|
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg)
|
rs143027621
|
0.00012
|
NM_203447.4(DOCK8):c.3234+2T>C
|
rs756871628
|
0.00010
|
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg)
|
rs200295901
|
0.00009
|
NM_001006658.3(CR2):c.1402+1G>A
|
rs372838534
|
0.00006
|
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter)
|
rs72553882
|
0.00006
|
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)
|
rs745608560
|
0.00004
|
NM_006846.4(SPINK5):c.891C>T (p.Cys297=)
|
rs752941297
|
0.00004
|
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter)
|
rs751868289
|
0.00003
|
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter)
|
rs193922703
|
0.00003
|
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)
|
rs1260264247
|
0.00002
|
NM_020661.4(AICDA):c.71G>A (p.Arg24Gln)
|
rs886923939
|
0.00002
|
NM_001006658.3(CR2):c.1613A>G (p.His538Arg)
|
rs763755514
|
0.00001
|
NM_001006658.3(CR2):c.3088+1G>A
|
rs200320927
|
0.00001
|
NM_001364905.1(LRBA):c.5645+2T>A
|
rs1181595292
|
0.00001
|
NM_001364905.1(LRBA):c.5646-2A>T
|
rs1297757024
|
0.00001
|
NM_003998.4(NFKB1):c.482C>T (p.Ala161Val)
|
rs1354534120
|
0.00001
|
NM_005026.5(PIK3CD):c.3071G>A (p.Arg1024His)
|
rs759704849
|
0.00001
|
NM_006060.6(IKZF1):c.64G>A (p.Asp22Asn)
|
rs1245618829
|
0.00001
|
NM_006060.6(IKZF1):c.814G>A (p.Ala272Thr)
|
rs778820674
|
0.00001
|
NM_012452.3(TNFRSF13B):c.61+2T>A
|
rs760885614
|
0.00001
|
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu)
|
rs193922704
|
0.00001
|
NM_020661.4(AICDA):c.544-2A>G
|
rs772388034
|
0.00001
|
NM_203447.4(DOCK8):c.1680-2A>G
|
rs749633690
|
0.00001
|
GRCh37/hg19 4q24(chr4:102851823-104641864)
|
|
|
NC_000004.11:g.(?_151604683)_(151604889_?)dup
|
|
|
NC_000009.11:g.(?_271607)_(304724_?)dup
|
|
|
NC_000009.11:g.(?_271607)_(312186_?)dup
|
|
|
NC_000009.11:g.(?_271607)_(328191_?)dup
|
|
|
NC_000009.11:g.(?_271607)_(336738_?)dup
|
|
|
NC_000009.11:g.(?_271607)_(382705_?)dup
|
|
|
NC_000009.11:g.(?_271607)_(399279_?)dup
|
|
|
NC_000009.11:g.(?_271607)_(418227_?)dup
|
|
|
NC_000009.11:g.(?_271627)_(382685_?)dup
|
|
|
NC_000009.11:g.(?_271627)_(399259_?)dup
|
|
|
NC_000009.11:g.(?_325651)_(382705_?)dup
|
|
|
NC_000009.11:g.(?_332378)_(340341_?)dup
|
|
|
NC_000009.11:g.(?_334205)_(336738_?)del
|
|
|
NC_000009.11:g.(?_367998)_(418227_?)dup
|
|
|
NC_000009.11:g.(?_371408)_(428516_?)dup
|
|
|
NC_000009.11:g.(?_404898)_(407089_?)dup
|
|
|
NC_000009.12:g.(333421_334903)del
|
|
|
NC_000009.12:g.(?_286441)_(289601_?)del
|
|
|
NC_000009.12:g.(?_304561)_(399279_?)dup
|
|
|
NC_000009.12:g.(?_334205)_(340341_?)dup
|
|
|
NC_000014.9:g.105855132dup
|
rs2092930640
|
|
NC_000014.9:g.105856013G>T
|
rs2142904095
|
|
NC_000017.10:g.(?_16842841)_(16855917_?)del
|
|
|
NC_000023.10:g.(?_135738495)_(135741594_?)del
|
|
|
NC_000023.11:g.(?_136650246)_(136654450_?)del
|
|
|
NM_000061.3(BTK):c.119_120dup (p.Glu41fs)
|
|
|
NM_000061.3(BTK):c.121G>A (p.Glu41Lys)
|
rs1057520045
|
|
NM_000061.3(BTK):c.1355T>C (p.Leu452Pro)
|
rs2147427580
|
|
NM_000061.3(BTK):c.1511A>T (p.Asp504Val)
|
rs193922125
|
|
NM_000061.3(BTK):c.1635T>A (p.Tyr545Ter)
|
|
|
NM_000061.3(BTK):c.164C>A (p.Ser55Ter)
|
rs1555980796
|
|
NM_000061.3(BTK):c.1673_1680del (p.Lys558fs)
|
rs193922126
|
|
NM_000061.3(BTK):c.1685G>A (p.Arg562Gln)
|
|
|
NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter)
|
rs1926380106
|
|
NM_000061.3(BTK):c.1716dup (p.Lys573fs)
|
rs2147424879
|
|
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)
|
rs128621207
|
|
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp)
|
rs128621209
|
|
NM_000061.3(BTK):c.1889T>C (p.Met630Thr)
|
rs128621210
|
|
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
|
|
|
NM_000061.3(BTK):c.233del (p.Gln78fs)
|
rs2147447513
|
|
NM_000061.3(BTK):c.240G>A (p.Pro80=)
|
rs1569296295
|
|
NM_000061.3(BTK):c.36G>T (p.Lys12Asn)
|
rs782519139
|
|
NM_000061.3(BTK):c.371G>A (p.Trp124Ter)
|
rs1555980049
|
|
NM_000061.3(BTK):c.372G>T (p.Trp124Cys)
|
|
|
NM_000061.3(BTK):c.588+1G>T
|
rs1569293252
|
|
NM_000061.3(BTK):c.588+2T>A
|
rs1555978777
|
|
NM_000061.3(BTK):c.777-1G>A
|
rs1603007942
|
|
NM_000061.3(BTK):c.777-2A>G
|
rs193922129
|
|
NM_000061.3(BTK):c.799_806del (p.Asn267fs)
|
rs1555978412
|
|
NM_000061.3(BTK):c.806del (p.Val269fs)
|
rs1926614700
|
|
NM_000061.3(BTK):c.839+1G>C
|
rs1569292649
|
|
NM_000061.3(BTK):c.840-1G>A
|
rs193922131
|
|
NM_000061.3(BTK):c.842G>A (p.Trp281Ter)
|
rs2147431031
|
|
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)
|
rs128621194
|
|
NM_000061.3(BTK):c.895-2A>G
|
rs193922132
|
|
NM_000061.3(BTK):c.904G>A (p.Gly302Arg)
|
|
|
NM_000061.3(BTK):c.998A>G (p.His333Arg)
|
rs193922133
|
|
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg)
|
rs104894774
|
|
NM_000074.3(CD40LG):c.189del (p.Phe63fs)
|
rs193922134
|
|
NM_000074.3(CD40LG):c.288+1G>A
|
rs1569376229
|
|
NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter)
|
rs2076113325
|
|
NM_000074.3(CD40LG):c.346G>T (p.Gly116Cys)
|
rs2148552406
|
|
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr)
|
rs1603321148
|
|
NM_000074.3(CD40LG):c.431G>A (p.Gly144Glu)
|
rs886039326
|
|
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His)
|
rs2076127133
|
|
NM_000074.3(CD40LG):c.515A>G (p.Tyr172Cys)
|
|
|
NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn)
|
rs1569377829
|
|
NM_000074.3(CD40LG):c.634del (p.His212fs)
|
|
|
NM_000074.3(CD40LG):c.687T>A (p.Phe229Leu)
|
|
|
NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp)
|
|
|
NM_000074.3(CD40LG):c.761C>A (p.Thr254Lys)
|
rs193922136
|
|
NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser)
|
rs1057521128
|
|
NM_000074.3(CD40LG):c.770G>T (p.Gly257Val)
|
|
|
NM_001006658.3(CR2):c.2040del (p.Phe680fs)
|
|
|
NM_001006658.3(CR2):c.2240+1G>A
|
|
|
NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter)
|
rs1658388636
|
|
NM_001006658.3(CR2):c.2716+2T>C
|
rs2102307813
|
|
NM_001006658.3(CR2):c.2870G>A (p.Gly957Glu)
|
rs764859619
|
|
NM_001006658.3(CR2):c.3089-1G>A
|
rs1365226221
|
|
NM_001006658.3(CR2):c.3188+2del
|
rs1658562210
|
|
NM_001006658.3(CR2):c.590G>C (p.Cys197Ser)
|
|
|
NM_001006658.3(CR2):c.623_624del (p.Pro208fs)
|
rs747832403
|
|
NM_001006658.3(CR2):c.624dup (p.Thr209fs)
|
rs747832403
|
|
NM_001282933.2(ZNF341):c.1054T>C (p.Cys352Arg)
|
rs2122686345
|
|
NM_001282933.2(ZNF341):c.98C>T (p.Pro33Leu)
|
|
|
NM_001322934.2(NFKB2):c.104-1G>C
|
rs2061116343
|
|
NM_001322934.2(NFKB2):c.1359_1363dup (p.Gln455fs)
|
|
|
NM_001322934.2(NFKB2):c.2576_2580del (p.Thr859fs)
|
rs1565214594
|
|
NM_001322934.2(NFKB2):c.2595_2596del (p.Asp865fs)
|
rs2061278560
|
|
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val)
|
rs727502788
|
|
NM_001364905.1(LRBA):c.1319del (p.Pro440fs)
|
|
|
NM_001364905.1(LRBA):c.1923_1924+11del
|
rs755373718
|
|
NM_001364905.1(LRBA):c.1924+2T>A
|
rs1730552437
|
|
NM_001364905.1(LRBA):c.216+1G>C
|
|
|
NM_001364905.1(LRBA):c.2166-1G>C
|
rs2127009232
|
|
NM_001364905.1(LRBA):c.2197G>T (p.Glu733Ter)
|
|
|
NM_001364905.1(LRBA):c.2259-2A>G
|
rs2127004616
|
|
NM_001364905.1(LRBA):c.2449+1G>A
|
|
|
NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter)
|
|
|
NM_001364905.1(LRBA):c.2767-2A>G
|
rs1350061017
|
|
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter)
|
rs1578999313
|
|
NM_001364905.1(LRBA):c.4158+1G>C
|
|
|
NM_001364905.1(LRBA):c.4159-1G>T
|
rs1750245794
|
|
NM_001364905.1(LRBA):c.4239del (p.Val1414fs)
|
rs2126905499
|
|
NM_001364905.1(LRBA):c.4466del (p.Pro1489fs)
|
|
|
NM_001364905.1(LRBA):c.476_549+580del
|
|
|
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter)
|
rs1484948342
|
|
NM_001364905.1(LRBA):c.5011dup (p.Ser1671fs)
|
|
|
NM_001364905.1(LRBA):c.5518+2T>C
|
rs532289025
|
|
NM_001364905.1(LRBA):c.5519-1G>A
|
rs1302362911
|
|
NM_001364905.1(LRBA):c.5645+1G>C
|
|
|
NM_001364905.1(LRBA):c.5755-1G>C
|
|
|
NM_001364905.1(LRBA):c.5921+1G>A
|
|
|
NM_001364905.1(LRBA):c.6194-2A>G
|
|
|
NM_001364905.1(LRBA):c.6331-2A>G
|
rs2152104087
|
|
NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149fs)
|
rs1561254290
|
|
NM_001364905.1(LRBA):c.6551+1G>T
|
|
|
NM_001364905.1(LRBA):c.7363-1G>T
|
|
|
NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs)
|
rs1580974401
|
|
NM_001364905.1(LRBA):c.7850-1G>A
|
rs1729842757
|
|
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs)
|
rs1264504989
|
|
NM_001364905.1(LRBA):c.863del (p.His288fs)
|
rs2149489382
|
|
NM_001770.6(CD19):c.1198+2T>G
|
rs1596718225
|
|
NM_001783.4(CD79A):c.379+1G>A
|
rs1555843601
|
|
NM_001783.4(CD79A):c.499-1G>A
|
|
|
NM_003120.3(SPI1):c.632A>C (p.His211Pro)
|
rs2095906547
|
|
NM_003120.3(SPI1):c.689G>C (p.Arg230Pro)
|
|
|
NM_003120.3(SPI1):c.722T>G (p.Val241Gly)
|
rs2095906404
|
|
NM_003200.5(TCF3):c.1338_1360del (p.Ser446fs)
|
rs2061880735
|
|
NM_003998.4(NFKB1):c.1075G>T (p.Glu359Ter)
|
|
|
NM_003998.4(NFKB1):c.1210+1G>A
|
rs2149203552
|
|
NM_003998.4(NFKB1):c.1752+1G>A
|
rs1560711146
|
|
NM_003998.4(NFKB1):c.2227+1G>A
|
rs2149222635
|
|
NM_003998.4(NFKB1):c.2353-1G>A
|
|
|
NM_003998.4(NFKB1):c.2671del (p.Ala891fs)
|
rs1728635624
|
|
NM_003998.4(NFKB1):c.317dup (p.Asn106fs)
|
rs1560679469
|
|
NM_003998.4(NFKB1):c.407+1G>A
|
rs1723945421
|
|
NM_003998.4(NFKB1):c.730+4A>G
|
rs869320688
|
|
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter)
|
rs1578793312
|
|
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)
|
rs773694113
|
|
NM_003998.4(NFKB1):c.988G>A (p.Val330Met)
|
rs2149192634
|
|
NM_003998.4:c.(927+1_928-1)_(1066+1_1067-1)del
|
|
|
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys)
|
rs28730670
|
|
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys)
|
rs587777389
|
|
NM_005026.5(PIK3CD):c.371G>A (p.Gly124Asp)
|
|
|
NM_005214.5(CTLA4):c.231_297delinsA (p.Gln80_Ser101del)
|
|
|
NM_006060.6(IKZF1):c.1275dup (p.Leu426fs)
|
|
|
NM_006060.6(IKZF1):c.499C>T (p.His167Tyr)
|
|
|
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro)
|
rs2153477847
|
|
NM_006060.6(IKZF1):c.548G>A (p.Arg183His)
|
rs1812172495
|
|
NM_006846.4(SPINK5):c.1280del (p.Ser427fs)
|
rs1753640069
|
|
NM_006846.4(SPINK5):c.1431-12G>A
|
rs368134354
|
|
NM_006846.4(SPINK5):c.209+1G>A
|
rs1752708600
|
|
NM_006846.4(SPINK5):c.2264del (p.Asn755fs)
|
|
|
NM_006846.4(SPINK5):c.715dup (p.Cys239fs)
|
|
|
NM_006846.4(SPINK5):c.817_818del (p.Asn273fs)
|
rs761490126
|
|
NM_012092.4(ICOS):c.136_139del (p.Asp46fs)
|
|
|
NM_012092.4(ICOS):c.394+2T>C
|
rs1559035937
|
|
NM_012092.4(ICOS):c.58+1G>A
|
rs757598952
|
|
NM_012452.3(TNFRSF13B):c.102C>A (p.Cys34Ter)
|
rs756955033
|
|
NM_012452.3(TNFRSF13B):c.61+1G>A
|
rs1016142312
|
|
NM_013314.4(BLNK):c.113+2T>G
|
rs2134092983
|
|
NM_013314.4(BLNK):c.746+1G>A
|
rs2083906060
|
|
NM_013314.4(BLNK):c.747-2A>G
|
|
|
NM_020661.4(AICDA):c.169G>A (p.Val57Met)
|
rs786205474
|
|
NM_020661.4(AICDA):c.274C>T (p.Arg92Ter)
|
rs1227905250
|
|
NM_020661.4(AICDA):c.293T>G (p.Leu98Arg)
|
|
|
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)
|
rs2136431608
|
|
NM_020661.4(AICDA):c.417G>T (p.Met139Ile)
|
rs1591744217
|
|
NM_020661.4(AICDA):c.427+1G>A
|
|
|
NM_020661.4(AICDA):c.45C>G (p.Phe15Leu)
|
rs2136433359
|
|
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter)
|
rs769399833
|
|
NM_020661.4(AICDA):c.8+1G>C
|
|
|
NM_052945.4(TNFRSF13C):c.154G>A (p.Ala52Thr)
|
|
|
NM_080911.3(UNG):c.132+1G>A
|
|
|
NM_080911.3(UNG):c.133-2A>G
|
|
|
NM_080911.3(UNG):c.623-2A>G
|
rs2042193330
|
|
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp)
|
rs193922716
|
|
NM_139276.3(STAT3):c.1182G>A (p.Met394Ile)
|
rs2144773624
|
|
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys)
|
rs193922717
|
|
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg)
|
rs869312888
|
|
NM_139276.3(STAT3):c.1262G>A (p.Gly421Glu)
|
|
|
NM_139276.3(STAT3):c.1699A>G (p.Asn567Asp)
|
rs2144697778
|
|
NM_139276.3(STAT3):c.1772A>T (p.Lys591Met)
|
rs193922719
|
|
NM_139276.3(STAT3):c.1780G>A (p.Glu594Lys)
|
rs193922720
|
|
NM_139276.3(STAT3):c.1842_1849delinsTGAAA (p.Lys615_Gly617delinsGluArg)
|
|
|
NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile)
|
rs1567708034
|
|
NM_139276.3(STAT3):c.1861T>G (p.Phe621Val)
|
|
|
NM_139276.3(STAT3):c.1909G>T (p.Val637Leu)
|
|
|
NM_139276.3(STAT3):c.1924A>G (p.Lys642Glu)
|
rs2144683205
|
|
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys)
|
rs193922721
|
|
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn)
|
rs1555563717
|
|
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr)
|
rs886039434
|
|
NM_139276.3(STAT3):c.2114A>G (p.Tyr705Cys)
|
|
|
NM_139276.3(STAT3):c.2123C>G (p.Thr708Ser)
|
rs2144622906
|
|
NM_139276.3(STAT3):c.2131A>G (p.Ile711Val)
|
rs1131691937
|
|
NM_139276.3(STAT3):c.2132T>G (p.Ile711Ser)
|
rs1598381121
|
|
NM_139276.3(STAT3):c.2134T>C (p.Cys712Arg)
|
rs193922722
|
|
NM_139276.3(STAT3):c.2141C>A (p.Thr714Lys)
|
|
|
NM_139276.3(STAT3):c.832C>T (p.Arg278Cys)
|
rs1555566945
|
|
NM_139276.3(STAT3):c.861G>T (p.Leu287Phe)
|
rs2144832509
|
|
NM_139276.3(STAT3):c.870A>T (p.Lys290Asn)
|
rs1598415635
|
|
NM_139276.3(STAT3):c.986T>G (p.Met329Arg)
|
rs1555566820
|
|
NM_139276.3(STAT3):c.994C>T (p.His332Tyr)
|
rs2144827923
|
|
NM_181523.3(PIK3R1):c.1300-2A>G
|
rs1403833564
|
|
NM_181523.3(PIK3R1):c.1300-5_1320del
|
rs2112261986
|
|
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)
|
rs1289537429
|
|
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)
|
rs397515453
|
|
NM_181523.3(PIK3R1):c.1946G>A (p.Arg649Gln)
|
|
|
NM_181523.3(PIK3R1):c.916+2T>C
|
|
|
NM_182972.3(IRF2BP2):c.124_147del (p.Asn42_Val49del)
|
|
|
NM_182972.3(IRF2BP2):c.217_244del (p.Pro73fs)
|
|
|
NM_182972.3(IRF2BP2):c.314_324del (p.Glu105fs)
|
|
|
NM_203447.4(DOCK8):c.1868+1G>A
|
|
|
NM_203447.4(DOCK8):c.2007+2T>G
|
rs2131215770
|
|
NM_203447.4(DOCK8):c.2779-2A>C
|
rs776399238
|
|
NM_203447.4(DOCK8):c.3530+1G>A
|
rs1564025732
|
|
NM_203447.4(DOCK8):c.3670_3671insTCAAATTTTGG (p.Asp1224fs)
|
rs2131602318
|
|
NM_203447.4(DOCK8):c.3841-1G>T
|
rs1486452597
|
|
NM_203447.4(DOCK8):c.4024-2A>G
|
|
|
NM_203447.4(DOCK8):c.4184dup (p.Asn1395fs)
|
|
|
NM_203447.4(DOCK8):c.4626+1G>A
|
|
|
NM_203447.4(DOCK8):c.4626+76A>G
|
|
|
NM_203447.4(DOCK8):c.5223+1del
|
rs2131795370
|
|
NM_203447.4(DOCK8):c.53+1G>A
|
rs2046707580
|
|
NM_203447.4(DOCK8):c.5311dup (p.Thr1771fs)
|
|
|
NM_203447.4(DOCK8):c.5455_5458dup (p.Thr1820fs)
|
|
|
NM_203447.4(DOCK8):c.5490+2T>C
|
|
|
NM_203447.4(DOCK8):c.560_561insAGCGA (p.Asp187fs)
|
rs2130697082
|
|
NM_203447.4(DOCK8):c.741+2T>C
|
|
|
NM_203447.4(DOCK8):c.882dup (p.Glu295fs)
|
rs1554668061
|
|