ClinVar Miner

List of variants studied for autoimmune lymphoproliferative syndrome type 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 565
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HGVS dbSNP gnomAD frequency
NM_000639.3(FASLG):c.452-28T>C rs2639653 0.99043
NM_000043.6(FAS):c.642T>C (p.Thr214=) rs2234978 0.72086
NM_001141945.3(ACTA2):c.-24+733T>C rs1800682 0.54268
NC_000001.11:g.172658358C>T rs763110 0.49239
NM_000043.6(FAS):c.*1084C>T rs1468063 0.16498
NM_000043.6(FAS):c.*565A>T rs1051070 0.07031
NM_000639.3(FASLG):c.*612T>A rs868507856 0.05258
NM_000639.3(FASLG):c.147G>A (p.Pro49=) rs61756244 0.05080
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619 0.03995
NM_000043.6(FAS):c.222A>G (p.Thr74=) rs2229521 0.03925
NM_000043.6(FAS):c.*765T>C rs9658776 0.03922
NM_001141945.3(ACTA2):c.-24+157C>T rs2274355 0.03855
NM_000043.6(FAS):c.-34A>G rs5030766 0.02841
NM_000043.6(FAS):c.*142A>G rs9658774 0.02166
NM_000043.6(FAS):c.141G>A (p.Gln47=) rs3218621 0.02156
NM_000043.6(FAS):c.505+16C>T rs3218620 0.01048
NM_000043.6(FAS):c.365C>T (p.Thr122Ile) rs3218614 0.00774
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613 0.00606
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318 0.00529
NM_001141945.3(ACTA2):c.-24+357C>T rs9658677 0.00433
NM_000639.3(FASLG):c.*606T>A rs74124375 0.00364
NM_000639.3(FASLG):c.*608T>A rs867998396 0.00352
NM_001141945.3(ACTA2):c.-24+409G>A rs56220100 0.00346
NM_000043.6(FAS):c.550A>G (p.Ile184Val) rs28362322 0.00324
NM_000639.3(FASLG):c.451+7A>G rs201525996 0.00210
NM_000639.3(FASLG):c.*817A>G rs45442301 0.00162
NM_000639.3(FASLG):c.*406G>T rs138658215 0.00150
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_000043.6(FAS):c.33T>A (p.Val11=) rs113022949 0.00135
NM_000639.3(FASLG):c.*600G>T rs886045574 0.00133
NM_000043.6(FAS):c.*436C>T rs143388574 0.00132
NM_000043.6(FAS):c.*638T>C rs192032778 0.00117
NM_000639.3(FASLG):c.426G>C (p.Glu142Asp) rs138441486 0.00088
NM_000043.6(FAS):c.103T>C (p.Leu35=) rs9333296 0.00083
NM_000043.6(FAS):c.*1333G>T rs9658779 0.00071
NM_000043.6(FAS):c.*1203G>A rs190060976 0.00062
NM_000639.3(FASLG):c.108G>A (p.Val36=) rs140595317 0.00054
NM_000639.3(FASLG):c.*754G>A rs55779656 0.00049
NM_000043.6(FAS):c.505+14T>G rs76988052 0.00038
NM_000639.3(FASLG):c.395-15C>G rs370579312 0.00038
NM_000639.3(FASLG):c.174G>A (p.Pro58=) rs372411796 0.00034
NM_000639.3(FASLG):c.364C>A (p.His122Asn) rs140406512 0.00034
NM_032977.4(CASP10):c.-8+5G>A rs781551128 0.00034
NM_000639.3(FASLG):c.280T>G (p.Leu94Val) rs56302117 0.00033
NM_032977.4(CASP10):c.1202_1208del (p.Cys401fs) rs747900630 0.00033
NM_000043.6(FAS):c.*978C>T rs181225729 0.00032
NM_000639.3(FASLG):c.*725A>G rs542205727 0.00030
NM_000639.3(FASLG):c.259T>C (p.Phe87Leu) rs530390117 0.00030
NM_000639.3(FASLG):c.796C>T (p.Leu266=) rs35178418 0.00029
NM_000043.6(FAS):c.958A>G (p.Ser320Gly) rs146209060 0.00028
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_000639.3(FASLG):c.360G>C (p.Gln120His) rs372615226 0.00026
NM_000639.3(FASLG):c.828C>T (p.Phe276=) rs144105303 0.00026
NM_000043.6(FAS):c.*582T>G rs542335688 0.00023
NC_000001.11:g.172658929A>G rs895958192 0.00021
NM_000043.6(FAS):c.*84G>A rs754986111 0.00020
NM_000043.6(FAS):c.-10C>A rs200181814 0.00019
NM_000043.6(FAS):c.914C>T (p.Thr305Ile) rs3218611 0.00018
NM_000043.6(FAS):c.*1294A>T rs9658778 0.00016
NM_000639.3(FASLG):c.*3G>T rs200021473 0.00016
NM_000043.6(FAS):c.961G>A (p.Asp321Asn) rs137898188 0.00013
NM_000639.3(FASLG):c.*54A>T rs550027918 0.00013
NM_000043.6(FAS):c.*70G>C rs80330323 0.00012
NM_000043.6(FAS):c.956C>T (p.Thr319Ile) rs372459755 0.00011
NM_000043.6(FAS):c.*853C>T rs770098016 0.00010
NM_000639.3(FASLG):c.466A>G (p.Arg156Gly) rs80358238 0.00010
NM_000043.6(FAS):c.251C>T (p.Pro84Leu) rs778483787 0.00009
NM_000043.6(FAS):c.38C>T (p.Thr13Met) rs372880667 0.00009
NM_000639.3(FASLG):c.177G>A (p.Pro59=) rs559795993 0.00009
NM_000639.3(FASLG):c.394+14C>T rs371078346 0.00009
NM_000639.3(FASLG):c.153G>A (p.Pro51=) rs147380045 0.00008
NM_000639.3(FASLG):c.204G>A (p.Leu68=) rs951438902 0.00008
NM_000043.6(FAS):c.*174A>G rs776971935 0.00007
NM_000043.6(FAS):c.*520T>C rs886047462 0.00006
NM_000639.3(FASLG):c.173C>T (p.Pro58Leu) rs558758285 0.00006
NM_000639.3(FASLG):c.749A>G (p.Asn250Ser) rs376317481 0.00006
NM_000043.6(FAS):c.652-7T>C rs370323285 0.00005
NM_000043.6(FAS):c.667A>C (p.Asn223His) rs143318339 0.00005
NM_000639.3(FASLG):c.278C>T (p.Ala93Val) rs758796005 0.00005
NM_000043.6(FAS):c.444-15T>C rs372996634 0.00004
NM_000043.6(FAS):c.505+17G>A rs767973417 0.00004
NM_000639.2(FASLG):c.-136G>A rs55804267 0.00004
NM_000639.3(FASLG):c.*306A>C rs556639319 0.00004
NM_000639.3(FASLG):c.*32T>C rs775421228 0.00004
NM_000639.3(FASLG):c.-16T>C rs781373207 0.00004
NM_000639.3(FASLG):c.109C>G (p.Pro37Ala) rs145731782 0.00004
NM_000639.3(FASLG):c.176C>T (p.Pro59Leu) rs375737004 0.00004
NM_000639.3(FASLG):c.394+3G>A rs376383896 0.00004
NM_032977.4(CASP10):c.729A>G (p.Arg243=) rs374515060 0.00004
NM_000043.6(FAS):c.196+3A>C rs370162732 0.00003
NM_000043.6(FAS):c.216C>T (p.Asp72=) rs766429180 0.00003
NM_000043.6(FAS):c.247G>A (p.Val83Met) rs199790261 0.00003
NM_000043.6(FAS):c.488C>T (p.Thr163Ile) rs563551720 0.00003
NM_000043.6(FAS):c.630T>C (p.His210=) rs751973753 0.00003
NM_000043.6(FAS):c.651+8T>C rs771146577 0.00003
NM_000043.6(FAS):c.867A>C (p.Glu289Asp) rs377337130 0.00003
NM_000043.6(FAS):c.945C>T (p.Leu315=) rs1188345187 0.00003
NM_000043.6(FAS):c.976A>C (p.Asn326His) rs770595930 0.00003
NM_000043.6(FAS):c.97A>G (p.Lys33Glu) rs55766344 0.00003
NM_000639.3(FASLG):c.*120G>A rs886045571 0.00003
NM_000639.3(FASLG):c.152C>T (p.Pro51Leu) rs61761322 0.00003
NM_000639.3(FASLG):c.179C>T (p.Pro60Leu) rs780144691 0.00003
NM_000639.3(FASLG):c.270T>C (p.Val90=) rs765440709 0.00003
NM_000639.3(FASLG):c.319C>A (p.Leu107Ile) rs748768839 0.00003
NM_000639.3(FASLG):c.323A>G (p.Gln108Arg) rs369342226 0.00003
NM_000639.3(FASLG):c.49A>C (p.Ser17Arg) rs777720730 0.00003
NM_000639.3(FASLG):c.532A>G (p.Lys178Glu) rs772212573 0.00003
NM_000639.3(FASLG):c.624C>T (p.Ser208=) rs761180254 0.00003
NM_032977.4(CASP10):c.440T>C (p.Met147Thr) rs121909776 0.00003
NM_000043.6(FAS):c.*386A>G rs1186205053 0.00002
NM_000043.6(FAS):c.*839A>G rs779728201 0.00002
NM_000043.6(FAS):c.*874T>A rs1436430653 0.00002
NM_000043.6(FAS):c.347A>G (p.Glu116Gly) rs749714005 0.00002
NM_000043.6(FAS):c.413C>T (p.Thr138Ile) rs760912307 0.00002
NM_000043.6(FAS):c.519C>T (p.Asn173=) rs1382455258 0.00002
NM_000043.6(FAS):c.57G>A (p.Ser19=) rs757754872 0.00002
NM_000043.6(FAS):c.628C>T (p.His210Tyr) rs1428151683 0.00002
NM_000043.6(FAS):c.879A>G (p.Thr293=) rs1413117342 0.00002
NM_000043.6(FAS):c.943C>T (p.Leu315Phe) rs1475820915 0.00002
NM_000043.6(FAS):c.948G>A (p.Lys316=) rs114502430 0.00002
NM_000639.3(FASLG):c.*203C>T rs886045572 0.00002
NM_000639.3(FASLG):c.137C>T (p.Pro46Leu) rs779382158 0.00002
NM_000639.3(FASLG):c.144A>G (p.Pro48=) rs55664927 0.00002
NM_000639.3(FASLG):c.344G>A (p.Arg115Gln) rs1023476500 0.00002
NM_000639.3(FASLG):c.497A>G (p.Tyr166Cys) rs760432021 0.00002
NM_032977.4(CASP10):c.325C>T (p.Arg109Ter) rs201601111 0.00002
NM_000043.6(FAS):c.*1313G>A rs192544176 0.00001
NM_000043.6(FAS):c.163G>C (p.Asp55His) rs148677058 0.00001
NM_000043.6(FAS):c.176G>T (p.Cys59Phe) rs886047459 0.00001
NM_000043.6(FAS):c.217T>G (p.Cys73Gly) rs751654768 0.00001
NM_000043.6(FAS):c.246C>T (p.Cys82=) rs777751533 0.00001
NM_000043.6(FAS):c.270G>A (p.Glu90=) rs745375995 0.00001
NM_000043.6(FAS):c.30+12C>T rs558072404 0.00001
NM_000043.6(FAS):c.334+3A>C rs1848316496 0.00001
NM_000043.6(FAS):c.354C>T (p.Asn118=) rs1266114057 0.00001
NM_000043.6(FAS):c.379T>G (p.Cys127Gly) rs1848386782 0.00001
NM_000043.6(FAS):c.432C>A (p.Asp144Glu) rs574338716 0.00001
NM_000043.6(FAS):c.444-19C>T rs764387025 0.00001
NM_000043.6(FAS):c.506-14G>A rs766198534 0.00001
NM_000043.6(FAS):c.524G>A (p.Gly175Glu) rs752208395 0.00001
NM_000043.6(FAS):c.533G>A (p.Cys178Tyr) rs372866793 0.00001
NM_000043.6(FAS):c.608G>T (p.Arg203Ile) rs756880278 0.00001
NM_000043.6(FAS):c.637C>T (p.Pro213Ser) rs755532307 0.00001
NM_000043.6(FAS):c.666A>G (p.Ile222Met) rs767806688 0.00001
NM_000043.6(FAS):c.674C>G (p.Ser225Cys) rs1848626473 0.00001
NM_000043.6(FAS):c.694T>C (p.Tyr232His) rs767866112 0.00001
NM_000043.6(FAS):c.700A>G (p.Thr234Ala) rs962274229 0.00001
NM_000043.6(FAS):c.78A>G (p.Gln26=) rs746017530 0.00001
NM_000043.6(FAS):c.798T>C (p.Asn266=) rs758630212 0.00001
NM_000043.6(FAS):c.79G>A (p.Val27Met) rs201624874 0.00001
NM_000043.6(FAS):c.87C>T (p.Asp29=) rs1323745013 0.00001
NM_000043.6(FAS):c.885T>G (p.Ile295Met) rs1170990745 0.00001
NM_000043.6(FAS):c.937A>G (p.Ile313Val) rs751341397 0.00001
NM_000043.6(FAS):c.950A>G (p.Asp317Gly) rs200864612 0.00001
NM_000043.6(FAS):c.95C>A (p.Ser32Tyr) rs866603022 0.00001
NM_000639.3(FASLG):c.*119G>A rs753021852 0.00001
NM_000639.3(FASLG):c.113G>A (p.Arg38Lys) rs149563384 0.00001
NM_000639.3(FASLG):c.117G>T (p.Arg39Ser) rs373329523 0.00001
NM_000639.3(FASLG):c.119C>T (p.Pro40Leu) rs1256138927 0.00001
NM_000639.3(FASLG):c.170C>T (p.Pro57Leu) rs149883274 0.00001
NM_000639.3(FASLG):c.180G>A (p.Pro60=) rs753980291 0.00001
NM_000639.3(FASLG):c.243G>T (p.Leu81=) rs760651511 0.00001
NM_000639.3(FASLG):c.301A>G (p.Met101Val) rs747496936 0.00001
NM_000639.3(FASLG):c.348+12G>A rs776445206 0.00001
NM_000639.3(FASLG):c.349-45G>T rs778330321 0.00001
NM_000639.3(FASLG):c.395-9A>G rs373975939 0.00001
NM_000639.3(FASLG):c.412C>T (p.Pro138Ser) rs756917304 0.00001
NM_000639.3(FASLG):c.451+8T>A rs372021169 0.00001
NM_000639.3(FASLG):c.452-12G>A rs759351686 0.00001
NM_000639.3(FASLG):c.474G>C (p.Met158Ile) rs888867585 0.00001
NM_000639.3(FASLG):c.503T>A (p.Ile168Asn) rs1291566237 0.00001
NM_000639.3(FASLG):c.561G>A (p.Gly187=) rs1267175575 0.00001
NM_000639.3(FASLG):c.579C>T (p.Ser193=) rs374974805 0.00001
NM_000639.3(FASLG):c.678G>A (p.Glu226=) rs752708760 0.00001
NM_000639.3(FASLG):c.692G>A (p.Ser231Asn) rs758377456 0.00001
NM_000639.3(FASLG):c.740C>A (p.Ala247Glu) rs80358237 0.00001
NM_000639.3(FASLG):c.781G>A (p.Val261Ile) rs201780506 0.00001
NM_000639.3(FASLG):c.829G>A (p.Gly277Ser) rs1413244355 0.00001
NM_001141945.3(ACTA2):c.-24+350G>A rs938458478 0.00001
NC_000001.10:g.(?_171605065)_(173962123_?)del
NC_000001.10:g.(?_171605065)_(173962123_?)dup
NC_000001.11:g.(?_172658358)_(172666036_?)dup
NC_000001.11:g.(?_172658358)_(172909884_?)dup
NC_000010.10:g.(?_90749963)_(90750683_?)del
NC_000010.10:g.(?_90767437)_(90770592_?)del
NC_000010.11:g.(?_88770845)_(89328078_?)del
NC_000010.11:g.(?_88989499)_(89247668_?)del
NM_000043.6(FAS):c.*1153A>T rs986613204
NM_000043.6(FAS):c.*119C>T rs1848699181
NM_000043.6(FAS):c.*566C>G rs886047463
NM_000043.6(FAS):c.*586G>A rs1848730964
NM_000043.6(FAS):c.*88T>C rs886047461
NM_000043.6(FAS):c.1002G>T (p.Leu334Phe) rs1848690736
NM_000043.6(FAS):c.1008G>C (p.Ter336Tyr)
NM_000043.6(FAS):c.102A>G (p.Gly34=) rs1554849878
NM_000043.6(FAS):c.103T>A (p.Leu35Met)
NM_000043.6(FAS):c.104T>G (p.Leu35Trp) rs2133471258
NM_000043.6(FAS):c.110T>A (p.Leu37Ter) rs1564686301
NM_000043.6(FAS):c.115A>T (p.Lys39Ter)
NM_000043.6(FAS):c.136A>C (p.Thr46Pro)
NM_000043.6(FAS):c.140A>G (p.Gln47Arg)
NM_000043.6(FAS):c.144C>T (p.Asn48=)
NM_000043.6(FAS):c.145T>C (p.Leu49=)
NM_000043.6(FAS):c.155_169dup (p.Gly56_Gln57insLeuHisHisAspGly)
NM_000043.6(FAS):c.15G>C (p.Trp5Cys)
NM_000043.6(FAS):c.161A>G (p.His54Arg) rs759152311
NM_000043.6(FAS):c.162T>C (p.His54=)
NM_000043.6(FAS):c.174C>T (p.Phe58=)
NM_000043.6(FAS):c.175T>A (p.Cys59Ser)
NM_000043.6(FAS):c.178del (p.His60fs) rs1589465172
NM_000043.6(FAS):c.179A>G (p.His60Arg) rs753767914
NM_000043.6(FAS):c.182_183insTTAT (p.Lys61fs) rs2133472134
NM_000043.6(FAS):c.185C>G (p.Pro62Arg) rs757780022
NM_000043.6(FAS):c.187T>C (p.Cys63Arg)
NM_000043.6(FAS):c.195A>G (p.Pro65=)
NM_000043.6(FAS):c.196+17A>G
NM_000043.6(FAS):c.196+2dup
NM_000043.6(FAS):c.196+5G>T
NM_000043.6(FAS):c.197-11T>A rs187793393
NM_000043.6(FAS):c.197-11T>C rs187793393
NM_000043.6(FAS):c.197-18C>G rs765687911
NM_000043.6(FAS):c.197-1G>A rs2133502090
NM_000043.6(FAS):c.197-2A>G rs1564691414
NM_000043.6(FAS):c.197-8T>C rs2133501996
NM_000043.6(FAS):c.204G>T (p.Arg68Ser)
NM_000043.6(FAS):c.20T>C (p.Leu7Pro) rs2133384423
NM_000043.6(FAS):c.218G>C (p.Cys73Ser) rs2133502355
NM_000043.6(FAS):c.226A>C (p.Asn76His)
NM_000043.6(FAS):c.230G>A (p.Gly77Glu)
NM_000043.6(FAS):c.232del (p.Asp78fs) rs606231361
NM_000043.6(FAS):c.245G>A (p.Cys82Tyr)
NM_000043.6(FAS):c.249G>A (p.Val83=)
NM_000043.6(FAS):c.259G>A (p.Glu87Lys) rs2133503091
NM_000043.6(FAS):c.259G>T (p.Glu87Ter) rs2133503091
NM_000043.6(FAS):c.264G>A (p.Gly88=) rs2133503215
NM_000043.6(FAS):c.279C>A (p.Asp93Glu)
NM_000043.6(FAS):c.27T>C (p.Pro9=)
NM_000043.6(FAS):c.287A>G (p.His96Arg) rs1589475804
NM_000043.6(FAS):c.30+14_30+18dup
NM_000043.6(FAS):c.30+19G>A rs202165529
NM_000043.6(FAS):c.30+19G>T rs202165529
NM_000043.6(FAS):c.30+20G>A
NM_000043.6(FAS):c.30+2T>C
NM_000043.6(FAS):c.30+6C>T rs1847139427
NM_000043.6(FAS):c.31-13T>A
NM_000043.6(FAS):c.31-8T>G rs1589464585
NM_000043.6(FAS):c.31-9A>G rs886047458
NM_000043.6(FAS):c.310T>C (p.Cys104Arg)
NM_000043.6(FAS):c.312dup (p.Arg105Ter) rs2133503921
NM_000043.6(FAS):c.323A>G (p.Asp108Gly) rs1848315820
NM_000043.6(FAS):c.324T>C (p.Asp108=) rs1848316008
NM_000043.6(FAS):c.32T>C (p.Val11Ala)
NM_000043.6(FAS):c.332A>G (p.His111Arg) rs2133504109
NM_000043.6(FAS):c.333T>C (p.His111=)
NM_000043.6(FAS):c.334+11T>C
NM_000043.6(FAS):c.334+2T>C
NM_000043.6(FAS):c.334+2dup rs606231362
NM_000043.6(FAS):c.335-10G>T rs377251325
NM_000043.6(FAS):c.335-13A>T
NM_000043.6(FAS):c.335-15A>C
NM_000043.6(FAS):c.335-2A>G
NM_000043.6(FAS):c.335-4C>G
NM_000043.6(FAS):c.33T>C (p.Val11=)
NM_000043.6(FAS):c.340G>A (p.Glu114Lys)
NM_000043.6(FAS):c.341A>T (p.Glu114Val)
NM_000043.6(FAS):c.345G>A (p.Val115=) rs2133513698
NM_000043.6(FAS):c.356del (p.Cys119fs)
NM_000043.6(FAS):c.361C>T (p.Arg121Trp) rs121913078
NM_000043.6(FAS):c.383G>A (p.Arg128Lys) rs2133514262
NM_000043.6(FAS):c.386G>A (p.Cys129Tyr)
NM_000043.6(FAS):c.38C>A (p.Thr13Lys)
NM_000043.6(FAS):c.38del (p.Thr13fs) rs1842954041
NM_000043.6(FAS):c.391C>A (p.Pro131Thr)
NM_000043.6(FAS):c.396C>T (p.Asn132=)
NM_000043.6(FAS):c.397T>C (p.Phe133Leu)
NM_000043.6(FAS):c.398T>A (p.Phe133Tyr)
NM_000043.6(FAS):c.39G>A (p.Thr13=) rs377196867
NM_000043.6(FAS):c.403del (p.Cys135fs) rs1564692984
NM_000043.6(FAS):c.404G>A (p.Cys135Tyr)
NM_000043.6(FAS):c.404G>T (p.Cys135Phe) rs1404280764
NM_000043.6(FAS):c.412A>G (p.Thr138Ala)
NM_000043.6(FAS):c.415G>A (p.Val139Ile)
NM_000043.6(FAS):c.415del (p.Val139fs) rs1589478691
NM_000043.6(FAS):c.418T>G (p.Cys140Gly)
NM_000043.6(FAS):c.430G>A (p.Asp144Asn) rs753670814
NM_000043.6(FAS):c.430G>T (p.Asp144Tyr)
NM_000043.6(FAS):c.432C>T (p.Asp144=) rs574338716
NM_000043.6(FAS):c.442A>T (p.Lys148Ter) rs2133515017
NM_000043.6(FAS):c.443+15T>G
NM_000043.6(FAS):c.443+20T>C
NM_000043.6(FAS):c.444-12T>C
NM_000043.6(FAS):c.444-5del rs751798922
NM_000043.6(FAS):c.444-5dup rs751798922
NM_000043.6(FAS):c.444-9T>C
NM_000043.6(FAS):c.466G>A (p.Glu156Lys)
NM_000043.6(FAS):c.46_47del (p.Val15_Ala16insTer) rs1848019699
NM_000043.6(FAS):c.473C>T (p.Thr158Ile)
NM_000043.6(FAS):c.476_489del (p.Leu159fs)
NM_000043.6(FAS):c.477C>G (p.Leu159=)
NM_000043.6(FAS):c.478A>G (p.Thr160Ala) rs1589482084
NM_000043.6(FAS):c.480C>T (p.Thr160=) rs1589482110
NM_000043.6(FAS):c.485A>T (p.Asn162Ile) rs993150748
NM_000043.6(FAS):c.489C>A (p.Thr163=)
NM_000043.6(FAS):c.490A>G (p.Lys164Glu)
NM_000043.6(FAS):c.494G>A (p.Cys165Tyr)
NM_000043.6(FAS):c.498del (p.Glu167fs)
NM_000043.6(FAS):c.4C>T (p.Leu2=)
NM_000043.6(FAS):c.505+14T>C
NM_000043.6(FAS):c.505+16C>A
NM_000043.6(FAS):c.505+1G>C rs2133527951
NM_000043.6(FAS):c.506-11C>T
NM_000043.6(FAS):c.506-16A>G rs2133529359
NM_000043.6(FAS):c.506-1G>C
NM_000043.6(FAS):c.506-6C>G rs1589482683
NM_000043.6(FAS):c.506G>T (p.Gly169Val) rs1848488731
NM_000043.6(FAS):c.526T>C (p.Trp176Arg)
NM_000043.6(FAS):c.528G>A (p.Trp176Ter) rs866771343
NM_000043.6(FAS):c.529C>T (p.Leu177Phe)
NM_000043.6(FAS):c.530T>G (p.Leu177Arg) rs1848490280
NM_000043.6(FAS):c.536T>G (p.Leu179Arg) rs1554851718
NM_000043.6(FAS):c.538C>T (p.Leu180Phe)
NM_000043.6(FAS):c.554C>T (p.Pro185Leu)
NM_000043.6(FAS):c.558A>G (p.Leu186=)
NM_000043.6(FAS):c.55T>C (p.Ser19Pro)
NM_000043.6(FAS):c.563_566del (p.Val188fs) rs1207744817
NM_000043.6(FAS):c.565_566insACAAGA (p.Trp189delinsTyrLysArg) rs2133530271
NM_000043.6(FAS):c.566_568delinsACAAGAATT (p.Trp189_Val190delinsTyrLysAsnLeu) rs1564695523
NM_000043.6(FAS):c.568+5G>C
NM_000043.6(FAS):c.569-1G>T
NM_000043.6(FAS):c.569-2A>C rs606231363
NM_000043.6(FAS):c.56C>T (p.Ser19Leu)
NM_000043.6(FAS):c.575G>A (p.Arg192Lys)
NM_000043.6(FAS):c.588G>A (p.Gln196=)
NM_000043.6(FAS):c.617del (p.Asn206fs) rs1848558128
NM_000043.6(FAS):c.634T>A (p.Ser212Thr) rs1848559695
NM_000043.6(FAS):c.635C>T (p.Ser212Phe)
NM_000043.6(FAS):c.641_642delinsAC (p.Thr214Asn) rs1848560803
NM_000043.6(FAS):c.641_642delinsTC (p.Thr214Ile) rs1848560803
NM_000043.6(FAS):c.642T>G (p.Thr214=)
NM_000043.6(FAS):c.644T>A (p.Leu215Ter) rs2133539468
NM_000043.6(FAS):c.651+1G>A rs1564696849
NM_000043.6(FAS):c.651+1G>T rs1564696849
NM_000043.6(FAS):c.651+2T>A rs267607122
NM_000043.6(FAS):c.651+2T>C rs267607122
NM_000043.6(FAS):c.651+2_651+3insTGAAAT rs1589485636
NM_000043.6(FAS):c.651+5G>T
NM_000043.6(FAS):c.652-12T>A rs1214604414
NM_000043.6(FAS):c.652-1G>A rs1589488463
NM_000043.6(FAS):c.652-9G>T rs1848622815
NM_000043.6(FAS):c.652G>A (p.Glu218Lys)
NM_000043.6(FAS):c.657_658del (p.Val220fs) rs1589488494
NM_000043.6(FAS):c.657del (p.Val220fs) rs2133547404
NM_000043.6(FAS):c.658G>A (p.Val220Met) rs755437276
NM_000043.6(FAS):c.66T>C (p.Ser22=)
NM_000043.6(FAS):c.673T>A (p.Ser225Thr) rs891207457
NM_000043.6(FAS):c.676+12A>C rs777843173
NM_000043.6(FAS):c.676+13T>A
NM_000043.6(FAS):c.676+1G>A rs1589488640
NM_000043.6(FAS):c.676+1G>C
NM_000043.6(FAS):c.676+1G>T rs1589488640
NM_000043.6(FAS):c.676+3A>G rs1848626772
NM_000043.6(FAS):c.677-16A>G
NM_000043.6(FAS):c.677-9A>G
NM_000043.6(FAS):c.67G>A (p.Val23Ile)
NM_000043.6(FAS):c.680T>C (p.Val227Ala)
NM_000043.6(FAS):c.684C>T (p.Asp228=) rs1848665121
NM_000043.6(FAS):c.685_686del (p.Leu229fs) rs2119445087
NM_000043.6(FAS):c.692_693insT (p.Lys231fs) rs606231366
NM_000043.6(FAS):c.695A>G (p.Tyr232Cys) rs121913079
NM_000043.6(FAS):c.704C>T (p.Thr235Ile) rs2119445212
NM_000043.6(FAS):c.704_706del (p.Thr235del) rs1848666809
NM_000043.6(FAS):c.707_708insG (p.Ile236fs) rs2119445224
NM_000043.6(FAS):c.711T>C (p.Ala237=)
NM_000043.6(FAS):c.715G>T (p.Val239Phe)
NM_000043.6(FAS):c.718_719insGTCG (p.Met240fs)
NM_000043.6(FAS):c.719T>A (p.Met240Lys) rs2119445378
NM_000043.6(FAS):c.719T>G (p.Met240Arg)
NM_000043.6(FAS):c.721A>C (p.Thr241Pro) rs121913076
NM_000043.6(FAS):c.722C>A (p.Thr241Lys)
NM_000043.6(FAS):c.734T>G (p.Val245Gly) rs200778245
NM_000043.6(FAS):c.73G>A (p.Ala25Thr) rs606231364
NM_000043.6(FAS):c.740G>C (p.Gly247Ala) rs121913085
NM_000043.6(FAS):c.746T>C (p.Val249Ala)
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000043.6(FAS):c.749G>A (p.Arg250Gln) rs121913080
NM_000043.6(FAS):c.749G>C (p.Arg250Pro) rs121913080
NM_000043.6(FAS):c.753G>A (p.Lys251=)
NM_000043.6(FAS):c.755del (p.Asn252fs) rs1564699214
NM_000043.6(FAS):c.758G>T (p.Gly253Val) rs1848671126
NM_000043.6(FAS):c.760G>T (p.Val254Phe) rs2119445796
NM_000043.6(FAS):c.761T>C (p.Val254Ala) rs1848671288
NM_000043.6(FAS):c.767A>G (p.Glu256Gly) rs2119445897
NM_000043.6(FAS):c.768A>G (p.Glu256=)
NM_000043.6(FAS):c.772A>G (p.Lys258Glu)
NM_000043.6(FAS):c.775del (p.Lys258_Ile259insTer)
NM_000043.6(FAS):c.776T>C (p.Ile259Thr) rs1848675068
NM_000043.6(FAS):c.778G>A (p.Asp260Asn) rs121913086
NM_000043.6(FAS):c.778G>T (p.Asp260Tyr) rs121913086
NM_000043.6(FAS):c.779A>G (p.Asp260Gly)
NM_000043.6(FAS):c.779A>T (p.Asp260Val) rs28929498
NM_000043.6(FAS):c.77A>G (p.Gln26Arg) rs2133470846
NM_000043.6(FAS):c.781G>A (p.Glu261Lys)
NM_000043.6(FAS):c.789G>C (p.Lys263Asn) rs2119446096
NM_000043.6(FAS):c.792T>G (p.Asn264Lys) rs2119446116
NM_000043.6(FAS):c.796A>C (p.Asn266His)
NM_000043.6(FAS):c.801C>T (p.Val267=)
NM_000043.6(FAS):c.802dup (p.Gln268fs)
NM_000043.6(FAS):c.809C>T (p.Thr270Ile) rs121913081
NM_000043.6(FAS):c.814G>A (p.Glu272Lys)
NM_000043.6(FAS):c.814G>C (p.Glu272Gln)
NM_000043.6(FAS):c.816del (p.Glu272fs) rs2119446366
NM_000043.6(FAS):c.817C>A (p.Gln273Lys) rs121913077
NM_000043.6(FAS):c.817C>T (p.Gln273Ter) rs121913077
NM_000043.6(FAS):c.818A>G (p.Gln273Arg) rs1848677745
NM_000043.6(FAS):c.820A>G (p.Lys274Glu)
NM_000043.6(FAS):c.823G>A (p.Val275Ile)
NM_000043.6(FAS):c.828A>C (p.Gln276His)
NM_000043.6(FAS):c.833T>A (p.Leu278His)
NM_000043.6(FAS):c.836G>A (p.Arg279His)
NM_000043.6(FAS):c.841T>A (p.Trp281Arg)
NM_000043.6(FAS):c.841T>G (p.Trp281Gly)
NM_000043.6(FAS):c.84T>C (p.Thr28=) rs1848023281
NM_000043.6(FAS):c.857G>A (p.Gly286Glu)
NM_000043.6(FAS):c.862A>G (p.Lys288Glu)
NM_000043.6(FAS):c.866A>G (p.Glu289Gly)
NM_000043.6(FAS):c.867A>G (p.Glu289=) rs377337130
NM_000043.6(FAS):c.869C>A (p.Ala290Glu) rs760993872
NM_000043.6(FAS):c.869C>T (p.Ala290Val)
NM_000043.6(FAS):c.870G>A (p.Ala290=)
NM_000043.6(FAS):c.874G>C (p.Asp292His)
NM_000043.6(FAS):c.878C>T (p.Thr293Ile) rs2119447206
NM_000043.6(FAS):c.879_880del (p.Leu294fs) rs886039524
NM_000043.6(FAS):c.881del (p.Thr293_Leu294insTer)
NM_000043.6(FAS):c.900A>C (p.Lys300Asn)
NM_000043.6(FAS):c.901G>A (p.Ala301Thr) rs1449711911
NM_000043.6(FAS):c.905A>G (p.Asn302Ser)
NM_000043.6(FAS):c.908T>G (p.Leu303Arg)
NM_000043.6(FAS):c.909T>C (p.Leu303=) rs967060461
NM_000043.6(FAS):c.910T>C (p.Cys304Arg)
NM_000043.6(FAS):c.913A>G (p.Thr305Ala)
NM_000043.6(FAS):c.915T>G (p.Thr305=)
NM_000043.6(FAS):c.929T>G (p.Ile310Ser) rs2119448150
NM_000043.6(FAS):c.953T>C (p.Ile318Thr) rs1848687177
NM_000043.6(FAS):c.963C>G (p.Asp321Glu)
NM_000043.6(FAS):c.968_987dup (p.Glu330fs) rs606231365
NM_000043.6(FAS):c.976A>G (p.Asn326Asp) rs770595930
NM_000043.6(FAS):c.976A>T (p.Asn326Tyr)
NM_000043.6(FAS):c.978C>T (p.Asn326=)
NM_000043.6(FAS):c.97A>C (p.Lys33Gln) rs55766344
NM_000043.6(FAS):c.993C>A (p.Ile331=) rs1237891648
NM_000639.3(FASLG):c.*601GT[13] rs10640513
NM_000639.3(FASLG):c.*601GT[14] rs10640513
NM_000639.3(FASLG):c.*601GT[17] rs10640513
NM_000639.3(FASLG):c.*601GT[18] rs10640513
NM_000639.3(FASLG):c.*601GT[19] rs10640513
NM_000639.3(FASLG):c.135A>G (p.Pro45=)
NM_000639.3(FASLG):c.135ACC[2] (p.Pro52_Pro53del)
NM_000639.3(FASLG):c.135ACC[3] (p.Pro53del) rs750792722
NM_000639.3(FASLG):c.144_152del (p.Pro51_Pro53del) rs777390517
NM_000639.3(FASLG):c.146C>T (p.Pro49Leu)
NM_000639.3(FASLG):c.147GCCACC[1] (p.Pro52_Pro53del) rs749237778
NM_000639.3(FASLG):c.147GCCACC[3] (p.Pro52_Pro53dup) rs749237778
NM_000639.3(FASLG):c.152C>A (p.Pro51Gln)
NM_000639.3(FASLG):c.156_179dup (p.Leu54_Pro61dup) rs1659086365
NM_000639.3(FASLG):c.162_188dup (p.Pro65_Leu66insProProProProProProLeuProPro)
NM_000639.3(FASLG):c.171GCC[2] (p.Pro61_Pro62del) rs772297337
NM_000639.3(FASLG):c.171GCC[5] (p.Pro62_Leu63insPro)
NM_000639.3(FASLG):c.174G>C (p.Pro58=)
NM_000639.3(FASLG):c.190_213dup (p.Pro64_Leu71dup) rs1165102233
NM_000639.3(FASLG):c.200C>A (p.Pro67Gln)
NM_000639.3(FASLG):c.203dup (p.Pro69fs) rs2101806549
NM_000639.3(FASLG):c.207A>G (p.Pro69=) rs769398033
NM_000639.3(FASLG):c.209C>G (p.Pro70Arg) rs1317103645
NM_000639.3(FASLG):c.210C>T (p.Pro70=)
NM_000639.3(FASLG):c.213G>A (p.Leu71=)
NM_000639.3(FASLG):c.221G>A (p.Arg74Lys)
NM_000639.3(FASLG):c.225G>A (p.Gly75=) rs761614632
NM_000639.3(FASLG):c.228C>G (p.Asn76Lys)
NM_000639.3(FASLG):c.241C>T (p.Leu81=)
NM_000639.3(FASLG):c.256A>G (p.Met86Val) rs1659091267
NM_000639.3(FASLG):c.263del (p.Phe88fs) rs587776450
NM_000639.3(FASLG):c.279C>T (p.Ala93=)
NM_000639.3(FASLG):c.295C>T (p.Leu99=)
NM_000639.3(FASLG):c.300G>T (p.Gly100=) rs1314891100
NM_000639.3(FASLG):c.312C>T (p.Leu104=)
NM_000639.3(FASLG):c.313T>C (p.Phe105Leu) rs2101806696
NM_000639.3(FASLG):c.321A>G (p.Leu107=)
NM_000639.3(FASLG):c.343C>T (p.Arg115Ter) rs773045347
NM_000639.3(FASLG):c.344G>T (p.Arg115Leu)
NM_000639.3(FASLG):c.348+11C>T
NM_000639.3(FASLG):c.348+14C>T
NM_000639.3(FASLG):c.348+9G>A
NM_000639.3(FASLG):c.349-13T>C
NM_000639.3(FASLG):c.349-16C>T
NM_000639.3(FASLG):c.351T>G (p.Ser117=)
NM_000639.3(FASLG):c.355A>T (p.Ser119Cys) rs1659104491
NM_000639.3(FASLG):c.362T>G (p.Met121Arg) rs1303419746
NM_000639.3(FASLG):c.368C>T (p.Thr123Ile)
NM_000639.3(FASLG):c.394+13dup
NM_000639.3(FASLG):c.394+16C>A
NM_000639.3(FASLG):c.394+17A>C
NM_000639.3(FASLG):c.395-13C>G
NM_000639.3(FASLG):c.397C>T (p.His133Tyr) rs1414237389
NM_000639.3(FASLG):c.401C>G (p.Pro134Arg) rs766811734
NM_000639.3(FASLG):c.405T>C (p.Ser135=)
NM_000639.3(FASLG):c.410C>T (p.Pro137Leu)
NM_000639.3(FASLG):c.411C>A (p.Pro137=)
NM_000639.3(FASLG):c.415G>A (p.Glu139Lys)
NM_000639.3(FASLG):c.424_425delinsTT (p.Glu142Leu)
NM_000639.3(FASLG):c.42G>C (p.Trp14Cys) rs886045569
NM_000639.3(FASLG):c.44del (p.Val15fs)
NM_000639.3(FASLG):c.451+11G>A
NM_000639.3(FASLG):c.451+12G>A
NM_000639.3(FASLG):c.452-11A>T
NM_000639.3(FASLG):c.452-13G>A
NM_000639.3(FASLG):c.452G>A (p.Gly151Asp)
NM_000639.3(FASLG):c.453C>A (p.Gly151=)
NM_000639.3(FASLG):c.473T>C (p.Met158Thr)
NM_000639.3(FASLG):c.473_556del (p.Met158_Glu185del) rs80358236
NM_000639.3(FASLG):c.484T>C (p.Trp162Arg) rs2101810526
NM_000639.3(FASLG):c.498T>C (p.Tyr166=)
NM_000639.3(FASLG):c.522G>A (p.Val174=)
NM_000639.3(FASLG):c.537T>C (p.Gly179=) rs2101810574
NM_000639.3(FASLG):c.540C>T (p.Gly180=)
NM_000639.3(FASLG):c.54T>A (p.Ser18Arg) rs1659080899
NM_000639.3(FASLG):c.552T>C (p.Asn184=)
NM_000639.3(FASLG):c.576_587del (p.Ser193_Tyr196del)
NM_000639.3(FASLG):c.592C>T (p.Arg198Trp)
NM_000639.3(FASLG):c.598C>A (p.Gln200Lys) rs2101810632
NM_000639.3(FASLG):c.605G>C (p.Cys202Ser) rs2101810634
NM_000639.3(FASLG):c.615G>T (p.Leu205=) rs2101810642
NM_000639.3(FASLG):c.628A>G (p.Lys210Glu)
NM_000639.3(FASLG):c.631G>A (p.Val211Ile)
NM_000639.3(FASLG):c.637A>G (p.Met213Val)
NM_000639.3(FASLG):c.639G>A (p.Met213Ile)
NM_000639.3(FASLG):c.653A>G (p.Tyr218Cys)
NM_000639.3(FASLG):c.659A>G (p.Gln220Arg) rs1659249691
NM_000639.3(FASLG):c.666G>A (p.Leu222=) rs2101810683
NM_000639.3(FASLG):c.690G>A (p.Met230Ile) rs999784381
NM_000639.3(FASLG):c.702T>C (p.Thr234=)
NM_000639.3(FASLG):c.708G>A (p.Gly236=)
NM_000639.3(FASLG):c.720C>T (p.Ala240=)
NM_000639.3(FASLG):c.72C>A (p.Ala24=) rs182516315
NM_000639.3(FASLG):c.743T>C (p.Val248Ala) rs1571333759
NM_000639.3(FASLG):c.749A>T (p.Asn250Ile) rs376317481
NM_000639.3(FASLG):c.780C>T (p.Asn260=)
NM_000639.3(FASLG):c.796C>G (p.Leu266Val)
NM_000639.3(FASLG):c.802A>T (p.Asn268Tyr)
NM_000639.3(FASLG):c.822G>A (p.Thr274=)
NM_000639.3(FASLG):c.822G>T (p.Thr274=) rs199500307
NM_000639.3(FASLG):c.834A>T (p.Leu278Phe) rs1571333854
NM_000639.3(FASLG):c.91C>T (p.Pro31Ser)
NM_000639.3(FASLG):c.95G>C (p.Cys32Ser) rs1659082010
NM_001141945.3(ACTA2):c.-24+236C>T rs886047457
NM_001141945.3(ACTA2):c.-24+399C>T rs886047456
NM_001141945.3(ACTA2):c.-24+414_-24+415del rs553556054
NM_001302746.1(FASLG):c.-187_-186GA[4] rs55853758
NM_032977.4(CASP10):c.*1982del rs111572089
NM_032977.4(CASP10):c.*2177del rs528903184
NM_032977.4(CASP10):c.*2295T>A rs886055420
NM_032977.4(CASP10):c.*2594del rs41351949
NM_032977.4(CASP10):c.*2927_*2928del rs886055426
NM_032977.4(CASP10):c.*741del rs41506545
NM_032977.4(CASP10):c.1321G>A (p.Ala441Thr) rs760580885
NM_032977.4(CASP10):c.923-12del rs367989998

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