ClinVar Miner

List of variants reported as likely pathogenic for immune system disorder by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2271
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HGVS dbSNP gnomAD frequency
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_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_001127198.5(TMC6):c.2022-1G>C rs202217062 0.00011
NM_203447.4(DOCK8):c.3234+2T>C rs756871628 0.00010
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys) rs201643277 0.00009
NM_006118.4(HAX1):c.317-2A>G rs371504152 0.00009
NM_000383.4(AIRE):c.1203_1278+28del rs1568929576 0.00008
NM_018344.6(SLC29A3):c.347T>G (p.Met116Arg) rs267607057 0.00008
NM_020937.4(FANCM):c.4318-1G>A rs752228025 0.00008
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_001006658.3(CR2):c.1402+1G>A rs372838534 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs) rs730881645 0.00006
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00006
NM_182916.3(TRNT1):c.488A>T (p.Asp163Val) rs146717589 0.00006
NM_000022.4(ADA):c.757C>T (p.Arg253Trp) rs201944717 0.00005
NC_000012.12:g.121641318T>C rs782753385 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000271.5(NPC1):c.1166G>A (p.Arg389His) rs373751051 0.00004
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys) rs145297180 0.00004
NM_000383.4(AIRE):c.652+1G>T rs199612115 0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_001558.4(IL10RA):c.506T>C (p.Ile169Thr) rs369219156 0.00004
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr) rs774964432 0.00004
NM_018062.4(FANCL):c.472-1G>C rs768814501 0.00004
NM_020937.4(FANCM):c.5340+1G>T rs754297345 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) rs775224457 0.00004
NM_152468.5(TMC8):c.449-1G>T rs377668069 0.00004
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 0.00003
NM_000051.4(ATM):c.8546G>A (p.Arg2849Gln) rs587782202 0.00003
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) rs179363894 0.00003
NM_000206.3(IL2RG):c.514C>A (p.Leu172Met) rs141707292 0.00003
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser) rs201156397 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001113378.2(FANCI):c.1891-2A>G rs776329920 0.00003
NM_001558.4(IL10RA):c.302G>A (p.Arg101Gln) rs372372851 0.00003
NM_002185.5(IL7R):c.2T>G (p.Met1Arg) rs200076125 0.00003
NM_003331.5(TYK2):c.691C>T (p.Arg231Trp) rs201917359 0.00003
NM_018344.6(SLC29A3):c.971C>T (p.Pro324Leu) rs758201217 0.00003
NM_031471.6(FERMT3):c.1312-2A>C rs760261349 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_152564.5(VPS13B):c.7248-1G>A rs763079458 0.00003
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000246.4(CIITA):c.436+1G>A rs373613022 0.00002
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000431.4(MVK):c.748G>A (p.Val250Ile) rs104895339 0.00002
NM_000448.3(RAG1):c.1981_1983del (p.Met661del) rs774103837 0.00002
NM_000631.5(NCF4):c.529-2A>T rs199890705 0.00002
NM_001065.4(TNFRSF1A):c.121G>C (p.Asp41His) rs199882512 0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 0.00002
NM_001372051.1(CASP8):c.306-1910G>A rs373232880 0.00002
NM_002435.3(MPI):c.487+2del rs1057516550 0.00002
NM_002838.5(PTPRC):c.583+1G>A rs137869655 0.00002
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_016123.4(IRAK4):c.1188+520A>G rs944235493 0.00002
NM_018344.6(SLC29A3):c.401G>A (p.Arg134His) rs761175955 0.00002
NM_018344.6(SLC29A3):c.611-1G>T rs139857136 0.00002
NM_020661.4(AICDA):c.71G>A (p.Arg24Gln) rs886923939 0.00002
NM_058216.3(RAD51C):c.571+5G>A rs145779113 0.00002
NM_173842.3(IL1RN):c.63A>G (p.Ser21=) rs763872895 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000022.4(ADA):c.1A>G (p.Met1Val) rs1363043396 0.00001
NM_000022.4(ADA):c.218+1G>A rs528390681 0.00001
NM_000022.4(ADA):c.247G>A (p.Ala83Thr) rs776103734 0.00001
NM_000022.4(ADA):c.377C>A (p.Pro126Gln) rs1233957241 0.00001
NM_000022.4(ADA):c.536C>A (p.Ala179Asp) rs121908727 0.00001
NM_000022.4(ADA):c.780+1G>A rs746052951 0.00001
NM_000051.4(ATM):c.186-1G>A rs1259911051 0.00001
NM_000051.4(ATM):c.2467-2A>C rs1555082050 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr) rs876660628 0.00001
NM_000051.4(ATM):c.332-1G>A rs747855862 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.497-1G>A rs778624615 0.00001
NM_000051.4(ATM):c.5005+1G>T rs1057517427 0.00001
NM_000051.4(ATM):c.5763-1056G>A rs1325461375 0.00001
NM_000051.4(ATM):c.6095+1G>A rs587781584 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6573-2A>C rs751168951 0.00001
NM_000051.4(ATM):c.6573-2A>G rs751168951 0.00001
NM_000051.4(ATM):c.6975+5G>T rs575354684 0.00001
NM_000051.4(ATM):c.7157C>A (p.Ala2386Glu) rs786203697 0.00001
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys) rs767670019 0.00001
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile) rs1315805984 0.00001
NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala) rs745775382 0.00001
NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg) rs876659735 0.00001
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser) rs748634900 0.00001
NM_000051.4(ATM):c.8479T>A (p.Phe2827Ile) rs370152402 0.00001
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro) rs587782202 0.00001
NM_000101.4(CYBA):c.369+1G>A rs905944088 0.00001
NM_000135.4(FANCA):c.1776+1G>A rs756140957 0.00001
NM_000135.4(FANCA):c.189+1G>T rs891323617 0.00001
NM_000135.4(FANCA):c.1900+1G>A rs1598120768 0.00001
NM_000135.4(FANCA):c.2222+1G>A rs775388912 0.00001
NM_000135.4(FANCA):c.2601+1G>T rs1188581065 0.00001
NM_000135.4(FANCA):c.2853-2A>C rs947311062 0.00001
NM_000135.4(FANCA):c.3513+1G>A rs1188082371 0.00001
NM_000135.4(FANCA):c.3766-2A>G rs1219402916 0.00001
NM_000135.4(FANCA):c.4011-3_4011-2del rs911481295 0.00001
NM_000135.4(FANCA):c.522+1G>T rs1365019056 0.00001
NM_000135.4(FANCA):c.79+1G>A rs1483028018 0.00001
NM_000136.3(FANCC):c.1329+1G>T rs1554829441 0.00001
NM_000136.3(FANCC):c.166-2A>G rs587777945 0.00001
NM_000136.3(FANCC):c.345+1G>A rs1175257797 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000211.5(ITGB2):c.809C>T (p.Ala270Val) rs147318988 0.00001
NM_000246.4(CIITA):c.199+1G>A rs777089127 0.00001
NM_000271.5(NPC1):c.1028G>C (p.Gly343Ala) rs1444308532 0.00001
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714 0.00001
NM_000271.5(NPC1):c.2933G>A (p.Arg978His) rs752728865 0.00001
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln) rs534280005 0.00001
NM_000271.5(NPC1):c.3521C>T (p.Ala1174Val) rs780175800 0.00001
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261 0.00001
NM_000271.5(NPC1):c.956-1G>A rs756853895 0.00001
NM_000271.5(NPC1):c.956-2A>G rs1473909084 0.00001
NM_000383.4(AIRE):c.1278+1G>A rs1184559866 0.00001
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) rs386833673 0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp) rs747941115 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000383.4(AIRE):c.275G>A (p.Arg92Gln) rs1288735234 0.00001
NM_000383.4(AIRE):c.308-1G>C rs764588340 0.00001
NM_000397.4(CYBB):c.1223G>C (p.Gly408Ala) rs151344474 0.00001
NM_000397.4(CYBB):c.1244C>G (p.Pro415Arg) rs137854585 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000431.4(MVK):c.614A>G (p.Asn205Ser) rs767853272 0.00001
NM_000431.4(MVK):c.721C>T (p.Arg241Cys) rs758427037 0.00001
NM_000433.4(NCF2):c.1178+1G>A rs1352107832 0.00001
NM_000433.4(NCF2):c.605C>T (p.Ala202Val) rs137854508 0.00001
NM_000448.3(RAG1):c.1088G>A (p.Cys363Tyr) rs1461508819 0.00001
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys) rs1389614116 0.00001
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp) rs121918570 0.00001
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter) rs1434362838 0.00001
NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg) rs779528546 0.00001
NM_000543.5(SMPD1):c.1341-1G>A rs1057516854 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr) rs750433951 0.00001
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys) rs763099671 0.00001
NM_000543.5(SMPD1):c.319-1G>A rs1352986086 0.00001
NM_000543.5(SMPD1):c.491G>T (p.Gly164Val) rs1047531932 0.00001
NM_000551.4(VHL):c.340+770T>C rs1346312258 0.00001
NM_000551.4(VHL):c.377A>G (p.Asp126Gly) rs1354593943 0.00001
NM_000551.4(VHL):c.429C>T (p.Asp143=) rs773556807 0.00001
NM_000732.6(CD3D):c.407-2A>G rs1341165259 0.00001
NM_000733.4(CD3E):c.71-2A>G rs908640922 0.00001
NM_001006658.3(CR2):c.3088+1G>A rs200320927 0.00001
NM_001018113.3(FANCB):c.1327-1G>A rs1295003944 0.00001
NM_001018115.3(FANCD2):c.2494+2T>C rs779552164 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001033855.3(DCLRE1C):c.162-1G>T rs149090997 0.00001
NM_001083116.3(PRF1):c.1066C>T (p.Arg356Trp) rs746365230 0.00001
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met) rs28933376 0.00001
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro) rs764596094 0.00001
NM_001083116.3(PRF1):c.1471G>A (p.Asp491Asn) rs1324261340 0.00001
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp) rs202217604 0.00001
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys) rs771076819 0.00001
NM_001083116.3(PRF1):c.895C>T (p.Arg299Cys) rs902124045 0.00001
NM_001113378.2(FANCI):c.3058+1G>A rs149464307 0.00001
NM_001113378.2(FANCI):c.3721-1G>C rs1173483373 0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001290043.2(TAP2):c.1272+1G>A rs1222208628 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_001372051.1(CASP8):c.411+1G>C rs1948252170 0.00001
NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp) rs17860424 0.00001
NM_001558.4(IL10RA):c.68-1G>A rs1414190221 0.00001
NM_002435.3(MPI):c.145-1G>C rs1057516573 0.00001
NM_003331.5(TYK2):c.2047+1G>T rs1568333687 0.00001
NM_003331.5(TYK2):c.2909-2A>G rs775578531 0.00001
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla) rs767443643 0.00001
NM_004629.2(FANCG):c.1637-2del rs1224034435 0.00001
NM_004629.2(FANCG):c.175+1G>A rs927868500 0.00001
NM_004629.2(FANCG):c.85-2A>T rs759590778 0.00001
NM_004946.3(DOCK2):c.3310C>T (p.Arg1104Trp) rs780318765 0.00001
NM_005026.5(PIK3CD):c.3071G>A (p.Arg1024His) rs759704849 0.00001
NM_005045.4(RELN):c.3912+2T>G rs1226957030 0.00001
NM_005045.4(RELN):c.7349+2T>C rs982831716 0.00001
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln) rs1581573705 0.00001
NM_005236.3(ERCC4):c.1102+1G>T rs1314323456 0.00001
NM_005373.3(MPL):c.1309-1G>T rs1243113655 0.00001
NM_005373.3(MPL):c.1566-1G>A rs1570474015 0.00001
NM_005373.3(MPL):c.311T>C (p.Phe104Ser) rs1196161699 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NM_006118.4(HAX1):c.663+1G>A rs41313932 0.00001
NM_006254.4(PRKCD):c.788-2A>G rs1295207359 0.00001
NM_006397.3(RNASEH2A):c.323+1G>T rs1388246689 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006785.4(MALT1):c.926-1G>A rs143682914 0.00001
NM_006949.4(STXBP2):c.704G>A (p.Arg235Gln) rs757488006 0.00001
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys) rs782269909 0.00001
NM_012275.3(IL36RN):c.29+1G>A rs1489262806 0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035 0.00001
NM_014339.7(IL17RA):c.310+2T>C rs201128237 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 0.00001
NM_015474.4(SAMHD1):c.509+1G>A rs1192315307 0.00001
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516 0.00001
NM_015599.3(PGM3):c.-2-1G>C rs1483237450 0.00001
NM_018062.4(FANCL):c.216+1G>T rs1205006300 0.00001
NM_018062.4(FANCL):c.273+1G>C rs144729980 0.00001
NM_018062.4(FANCL):c.692-2A>G rs1558737575 0.00001
NM_018344.6(SLC29A3):c.610+1G>A rs1166563034 0.00001
NM_020661.4(AICDA):c.544-2A>G rs772388034 0.00001
NM_020937.4(FANCM):c.1397-1G>T rs1887394029 0.00001
NM_020964.3(EPG5):c.1678-1G>A rs755928939 0.00001
NM_020964.3(EPG5):c.1A>G (p.Met1Val) rs1135402732 0.00001
NM_021922.3(FANCE):c.1238-1G>C rs1767507722 0.00001
NM_021922.3(FANCE):c.248+1del rs1767163932 0.00001
NM_022725.4(FANCF):c.690del (p.Gly231fs) rs747622521 0.00001
NM_024570.4(RNASEH2B):c.437-1G>A rs777313709 0.00001
NM_024570.4(RNASEH2B):c.65-13G>A rs1176797481 0.00001
NM_024570.4(RNASEH2B):c.698+1G>A rs367915667 0.00001
NM_031229.4(RBCK1):c.1160A>G (p.Asn387Ser) rs566912235 0.00001
NM_032043.3(BRIP1):c.1794+1G>A rs766516963 0.00001
NM_032043.3(BRIP1):c.1794+1G>C rs766516963 0.00001
NM_032043.3(BRIP1):c.2379+1G>A rs1555590286 0.00001
NM_032043.3(BRIP1):c.2777C>T (p.Ala926Val) rs1483709056 0.00001
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter) rs1420431000 0.00001
NM_032444.4(SLX4):c.4739+1G>T rs759186986 0.00001
NM_032444.4(SLX4):c.4739+2T>C rs774356384 0.00001
NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter) rs759292615 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_058216.3(RAD51C):c.572-2A>G rs145310733 0.00001
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376 0.00001
NM_152468.5(TMC8):c.1128-2A>G rs761256523 0.00001
NM_152468.5(TMC8):c.1824-1G>C rs369371040 0.00001
NM_152564.5(VPS13B):c.10061+1G>A rs1200459145 0.00001
NM_152564.5(VPS13B):c.10867+1G>A rs780902262 0.00001
NM_152564.5(VPS13B):c.147+1G>A rs1057517029 0.00001
NM_152564.5(VPS13B):c.2824+2T>C rs141703746 0.00001
NM_152564.5(VPS13B):c.3082+2T>C rs1188811827 0.00001
NM_152564.5(VPS13B):c.3083-2A>C rs1456528242 0.00001
NM_152564.5(VPS13B):c.4746-1G>C rs768342041 0.00001
NM_152564.5(VPS13B):c.4949+2T>C rs761273297 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 0.00001
NM_152564.5(VPS13B):c.8097+1G>A rs1813590716 0.00001
NM_152564.5(VPS13B):c.8792+1G>T rs1415714103 0.00001
NM_199242.3(UNC13D):c.1727+1G>A rs754882266 0.00001
NM_199242.3(UNC13D):c.2447+1G>A rs1165696705 0.00001
NM_199242.3(UNC13D):c.2672T>C (p.Leu891Pro) rs1359661881 0.00001
NM_199242.3(UNC13D):c.2830+2del rs1287388302 0.00001
NM_199242.3(UNC13D):c.3173T>C (p.Leu1058Pro) rs1278701043 0.00001
NM_199242.3(UNC13D):c.569+5G>A rs765034513 0.00001
NM_199242.3(UNC13D):c.614+1G>T rs866629962 0.00001
NM_203447.4(DOCK8):c.1680-2A>G rs749633690 0.00001
NM_206937.2(LIG4):c.1345A>C (p.Lys449Gln) rs758694012 0.00001
NM_206937.2(LIG4):c.832C>T (p.Arg278Cys) rs574912936 0.00001
NC_000001.10:g.(?_154246017)_(154247306_?)del
NC_000001.10:g.(?_235850229)_(235860592_?)del
NC_000001.10:g.(?_235850329)_(235858090_?)del
NC_000001.10:g.(?_235950490)_(235964407_?)dup
NC_000001.11:g.(?_154274930)_(154275721_?)del
NC_000001.11:g.(?_183577579)_(183577727_?)dup
NC_000002.11:g.(?_217285002)_(217315807_?)dup
NC_000002.11:g.(?_217285012)_(217315797_?)dup
NC_000002.11:g.(?_217303181)_(217308995_?)del
NC_000002.11:g.(?_217311721)_(217311901_?)del
NC_000002.11:g.(?_217311731)_(217311891_?)del
NC_000002.11:g.(?_58386900)_(58393029_?)del
NC_000002.12:g.(?_113060832)_(113116890_?)del
NC_000002.12:g.(?_201276807)_(201276988_?)dup
NC_000002.12:g.(?_58159755)_(58165884_?)del
NC_000003.11:g.(?_10084233)_(10085286_?)del
NC_000003.11:g.(?_10091048)_(10140634_?)del
NC_000003.11:g.(?_10094051)_(10109021_?)dup
NC_000003.11:g.(?_10132039)_(10132856_?)del
NC_000003.11:g.(?_3179743)_(3189406_?)del
NC_000004.11:g.(?_151223757)_(151271331_?)dup
NC_000004.11:g.(?_151412050)_(151793927_?)dup
NC_000004.11:g.(?_151509219)_(151514947_?)del
NC_000004.11:g.(?_151604683)_(151604889_?)dup
NC_000004.11:g.(?_151738256)_(151738429_?)dup
NC_000006.11:g.(?_111887655)_(111890372_?)del
NC_000006.11:g.(?_32810848)_(32811339_?)del
NC_000006.11:g.(?_35423579)_(35424285_?)del
NC_000006.11:g.(?_35423579)_35424285del
NC_000007.13:g.(?_103196019)_(103206706_?)del
NC_000007.14:g.(?_103589576)_(103610827_?)dup
NC_000008.10:g.(?_100050631)_(100128122_?)dup
NC_000008.10:g.(?_100050631)_(100287502_?)dup
NC_000008.10:g.(?_100050713)_(100057034_?)del
NC_000008.10:g.(?_100108520)_(100205305_?)dup
NC_000008.10:g.(?_100108530)_(100182401_?)dup
NC_000008.10:g.(?_100123306)_(100133735_?)dup
NC_000008.10:g.(?_100133385)_(100160258_?)dup
NC_000008.10:g.(?_100157931)_(100160219_?)del
NC_000008.10:g.(?_100162579)_(100168929_?)del
NC_000008.10:g.(?_100205094)_(100205295_?)dup
NC_000008.10:g.(?_100205094)_(100287492_?)dup
NC_000008.10:g.(?_100286406)_(100287502_?)del
NC_000008.10:g.(?_100396426)_(100479872_?)dup
NC_000008.10:g.(?_100403765)_(100403952_?)dup
NC_000008.10:g.(?_100443745)_(100533258_?)dup
NC_000008.10:g.(?_100443755)_(100443902_?)dup
NC_000008.10:g.(?_100479254)_(100479653_?)del
NC_000008.10:g.(?_100515082)_(100516199_?)del
NC_000008.10:g.(?_100515082)_(100589871_?)del
NC_000008.10:g.(?_100568668)_(100673729_?)dup
NC_000008.10:g.(?_100654029)_(100654736_?)dup
NC_000008.10:g.(?_100673562)_(100847986_?)dup
NC_000008.10:g.(?_100711743)_(100712170_?)del
NC_000008.10:g.(?_100778144)_(100779154_?)del
NC_000008.10:g.(?_100781239)_(100789156_?)del
NC_000008.10:g.(?_100790890)_(100836226_?)dup
NC_000008.10:g.(?_100821583)_(100821778_?)del
NC_000008.10:g.(?_100821603)_(100821758_?)del
NC_000008.10:g.(?_100882993)_(100883945_?)dup
NC_000008.11:g.(?_99134631)_(99511512_?)dup
NC_000008.11:g.(?_99192876)_(99209768_?)dup
NC_000008.11:g.(?_99209582)_(99275264_?)del
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_000009.11:g.(?_97876901)_(97934439_?)dup
NC_000009.12:g.(?_286441)_(289601_?)del
NC_000009.12:g.(?_304561)_(399279_?)dup
NC_000009.12:g.(?_334205)_(340341_?)dup
NC_000009.12:g.(?_95171069)_(95172157_?)dup
NC_000010.10:g.(?_14969995)_(14974974_?)dup
NC_000010.10:g.(?_14978517)_(14981888_?)dup
NC_000011.10:g.(?_108235664)_(108235840_?)del
NC_000011.10:g.(?_108243943)_(108249112_?)del
NC_000011.10:g.(?_108246954)_(108289811_?)dup
NC_000011.10:g.(?_108284217)_(108284483_?)dup
NC_000011.10:g.(?_108292619)_(108299885_?)del
NC_000011.10:g.(?_108294917)_(108295069_?)dup
NC_000011.10:g.(?_108299704)_(108304862_?)del
NC_000011.10:g.(?_108327645)_(108331557_?)del
NC_000011.10:g.(?_108334959)_(108354884_?)del
NC_000011.10:g.(?_108334963)_(108354880_?)del
NC_000011.9:g.(?_108099886)_(108143599_?)del
NC_000011.9:g.(?_108106377)_(108143599_?)dup
NC_000011.9:g.(?_108106387)_(108106571_?)del
NC_000011.9:g.(?_108106387)_(108119839_?)dup
NC_000011.9:g.(?_108114117)_(108115618_?)del
NC_000011.9:g.(?_108114670)_(108225611_?)dup
NC_000011.9:g.(?_108114674)_(108225607_?)dup
NC_000011.9:g.(?_108115586)_(108118919_?)del
NC_000011.9:g.(?_108117671)_(108119849_?)dup
NC_000011.9:g.(?_108117671)_(108160548_?)dup
NC_000011.9:g.(?_108119686)_(108120192_?)del
NC_000011.9:g.(?_108122622)_(108131084_?)del
NC_000011.9:g.(?_108124463)_(108126942_?)del
NC_000011.9:g.(?_108124521)_(108150355_?)dup
NC_000011.9:g.(?_108129693)_(108160548_?)dup
NC_000011.9:g.(?_108137888)_(108138753_?)dup
NC_000011.9:g.(?_108139185)_(108143458_?)del
NC_000011.9:g.(?_108150208)_(108168119_?)dup
NC_000011.9:g.(?_108150208)_(108225611_?)dup
NC_000011.9:g.(?_108150557)_(108153493_?)del
NC_000011.9:g.(?_108151710)_(108192157_?)dup
NC_000011.9:g.(?_108154055)_(108160452_?)del
NC_000011.9:g.(?_108159694)_(108225611_?)dup
NC_000011.9:g.(?_108163326)_(108170632_?)del
NC_000011.9:g.(?_108163336)_(108170622_?)del
NC_000011.9:g.(?_108163340)_(108170618_?)del
NC_000011.9:g.(?_108178614)_(108183235_?)dup
NC_000011.9:g.(?_108183089)_(108225611_?)dup
NC_000011.9:g.(?_108196027)_(108199975_?)del
NC_000011.9:g.(?_108198469)_(108225601_?)dup
NC_000011.9:g.(?_108206566)_(108206694_?)del
NC_000011.9:g.(?_108206635)_(108211067_?)del
NC_000011.9:g.(?_108213939)_(108225611_?)del
NC_000011.9:g.(?_108217996)_(108218102_?)del
NC_000011.9:g.(?_4045083)_(4045237_?)dup
NC_000012.11:g.(?_110012646)_110013970del
NC_000012.11:g.(?_44177445)_(44180538_?)del
NC_000012.11:g.(?_6559440)_(6560401_?)del
NC_000012.12:g.121641283del rs1594212582
NC_000012.12:g.121641350C>T rs2136853046
NC_000012.12:g.121641539C>T
NC_000014.8:g.(?_45618020)_(45669211_?)del
NC_000014.8:g.(?_45623113)_(45669211_?)del
NC_000014.8:g.(?_45628293)_(45628489_?)dup
NC_000014.8:g.(?_45667837)_(45669211_?)del
NC_000014.9:g.(?_45153910)_(45200018_?)del
NC_000014.9:g.(?_45159086)_(45159290_?)dup
NC_000015.9:g.(?_75188483)_(75190081_?)del
NC_000015.9:g.(?_89804796)_(89805129_?)dup
NC_000015.9:g.(?_89804886)_(89806896_?)del
NC_000015.9:g.(?_89843021)_(89860052_?)del
NC_000016.10:g.(?_89758567)_(89762032_?)dup
NC_000016.10:g.(?_89764807)_(89779967_?)del
NC_000016.10:g.(?_89764884)_(89779963_?)del
NC_000016.10:g.(?_89791393)_(89799648_?)del
NC_000016.9:g.(?_3634750)_(3634892_?)dup
NC_000016.9:g.(?_3634764)_(3634878_?)dup
NC_000016.9:g.(?_88709946)_(88713408_?)del
NC_000016.9:g.(?_89802587)_(89816264_?)del
NC_000016.9:g.(?_89804999)_(89871810_?)del
NC_000016.9:g.(?_89811357)_(89851382_?)dup
NC_000016.9:g.(?_89811367)_(89851372_?)dup
NC_000016.9:g.(?_89816056)_(89816320_?)dup
NC_000016.9:g.(?_89816118)_(89818650_?)del
NC_000016.9:g.(?_89818526)_(89833665_?)dup
NC_000016.9:g.(?_89818536)_(89818822_?)dup
NC_000016.9:g.(?_89824976)_(89831435_?)del
NC_000016.9:g.(?_89828347)_(89846375_?)dup
NC_000016.9:g.(?_89831215)_(89874785_?)del
NC_000016.9:g.(?_89839659)_(89846385_?)dup
NC_000016.9:g.(?_89839659)_(89849530_?)dup
NC_000016.9:g.(?_89842140)_(89851382_?)dup
NC_000016.9:g.(?_89845189)_(89851392_?)dup
NC_000016.9:g.(?_89845189)_(89874795_?)dup
NC_000016.9:g.(?_89857801)_(89881031_?)del
NC_000016.9:g.(?_89862294)_(89862446_?)dup
NC_000016.9:g.(?_89864654)_(89866056_?)dup
NC_000016.9:g.(?_89869657)_(89877489_?)dup
NC_000017.10:g.(?_16842841)_(16855917_?)del
NC_000017.10:g.(?_56774149)_(56777997_?)del
NC_000017.10:g.(?_56777232)_(56780574_?)del
NC_000017.10:g.(?_56780547)_(56787361_?)dup
NC_000017.10:g.(?_56798097)_(56801482_?)dup
NC_000017.10:g.(?_56798101)_(56798179_?)dup
NC_000017.10:g.(?_56801381)_(56811583_?)del
NC_000017.10:g.(?_56811469)_(56811583_?)del
NC_000017.10:g.(?_59770781)_(59770883_?)dup
NC_000017.10:g.(?_59770785)_(59770879_?)dup
NC_000017.10:g.(?_59820364)_(59820505_?)dup
NC_000017.10:g.(?_59853742)_(59926637_?)dup
NC_000017.10:g.(?_59858191)_(59858864_?)dup
NC_000017.10:g.(?_59861621)_(59937278_?)dup
NC_000017.10:g.(?_59861625)_(59937274_?)dup
NC_000017.10:g.(?_59870938)_(59886138_?)dup
NC_000017.10:g.(?_59870948)_(59886128_?)dup
NC_000017.10:g.(?_59878604)_(59878845_?)del
NC_000017.10:g.(?_59878608)_(59878841_?)del
NC_000017.10:g.(?_59878633)_(59883057_?)del
NC_000017.10:g.(?_59878633)_59883038del
NC_000017.10:g.(?_59924456)_(59926623_?)dup
NC_000017.10:g.(?_59924462)_(59926617_?)dup
NC_000017.11:g.(?_58703186)_(58703339_?)dup
NC_000017.11:g.(?_58709849)_(58710000_?)del
NC_000017.11:g.(?_58709853)_(58709996_?)del
NC_000017.11:g.(?_58720736)_(58720822_?)dup
NC_000017.11:g.(?_58734108)_(58734232_?)del
NC_000017.11:g.(?_58734112)_(58734228_?)del
NC_000017.11:g.(?_61847091)_(61847230_?)del
NC_000017.11:g.(?_61861441)_(61861545_?)del
NC_000018.10:g.(?_2921533)_(2938037_?)del
NC_000018.9:g.(?_21148777)_(21153548_?)dup
NC_000018.9:g.(?_2921511)_(2938055_?)del
NC_000018.9:g.(?_43437798)_(43469925_?)dup
NC_000018.9:g.(?_43464697)_(43468959_?)del
NC_000018.9:g.(?_43523107)_(43524105_?)dup
NC_000019.9:g.(?_17944409)_(17945894_?)del
NC_000019.9:g.(?_7703306)_(7707110_?)del
NC_000019.9:g.(?_7706571)_(7712696_?)del
NC_000020.10:g.(?_35532550)_(35563602_?)del
NC_000020.10:g.(?_35539601)_(35547942_?)dup
NC_000020.10:g.(?_35555565)_(35555675_?)dup
NC_000020.10:g.(?_35559143)_(35563612_?)dup
NC_000020.10:g.(?_35563422)_(35563602_?)dup
NC_000020.10:g.(?_35569432)_(35569524_?)dup
NC_000020.10:g.(?_43255077)_(43264949_?)dup
NC_000020.11:g.(?_36927172)_(36927262_?)dup
NC_000020.11:g.(?_36930750)_(36930885_?)dup
NC_000020.11:g.(?_44636217)_(44636298_?)dup
NC_000022.10:g.(?_19748408)_(19748823_?)dup
NC_000023.10:g.(?_123497345)_(123505232_?)del
NC_000023.10:g.(?_123499639)_(123506985_?)del
NC_000023.10:g.(?_135738495)_(135741594_?)del
NC_000023.10:g.(?_37641330)_(37641446_?)del
NC_000023.10:g.(?_77084697)_(77131114_?)del
NC_000023.10:g.(?_77086282)_(77131114_?)dup
NC_000023.10:g.(?_77112986)_(77112986_?)del
NC_000023.11:g.(?_123888599)_(123888738_?)dup
NC_000023.11:g.(?_136650246)_(136654450_?)del
NC_000023.11:g.(?_14857852)_(14859344_?)del
NC_000023.11:g.(?_37810771)_(37810937_?)del
NM_000022.4(ADA):c.1078+2T>C
NM_000022.4(ADA):c.218+2T>G rs1555845120
NM_000022.4(ADA):c.221G>A (p.Gly74Asp)
NM_000022.4(ADA):c.301C>G (p.Arg101Gly) rs121908717
NM_000022.4(ADA):c.363-2A>G rs2145318314
NM_000022.4(ADA):c.385G>T (p.Val129Leu) rs121908731
NM_000022.4(ADA):c.44A>T (p.His15Leu) rs1209280928
NM_000022.4(ADA):c.455T>C (p.Leu152Pro) rs1568845361
NM_000022.4(ADA):c.460T>C (p.Cys154Arg)
NM_000022.4(ADA):c.467G>C (p.Arg156Pro) rs121908722
NM_000022.4(ADA):c.478+6T>C rs1555844600
NM_000022.4(ADA):c.479-23_479-2delinsTGGGACCAGCAT
NM_000022.4(ADA):c.479-2del rs1600921786
NM_000022.4(ADA):c.606+1G>T
NM_000022.4(ADA):c.631C>A (p.Arg211Ser)
NM_000022.4(ADA):c.780+1del rs2123517791
NM_000022.4(ADA):c.872C>G (p.Ser291Trp) rs121908721
NM_000022.4(ADA):c.890C>T (p.Pro297Leu) rs121908718
NM_000022.4(ADA):c.976-1_979del rs1441174171
NM_000022.4(ADA):c.976-34G>A rs1194494050
NM_000043.6(FAS):c.197-1G>A rs2133502090
NM_000043.6(FAS):c.20T>C (p.Leu7Pro) rs2133384423
NM_000043.6(FAS):c.30+2T>C
NM_000043.6(FAS):c.323A>G (p.Asp108Gly) rs1848315820
NM_000043.6(FAS):c.341A>T (p.Glu114Val)
NM_000043.6(FAS):c.404G>A (p.Cys135Tyr)
NM_000043.6(FAS):c.505+1G>C rs2133527951
NM_000043.6(FAS):c.536T>G (p.Leu179Arg) rs1554851718
NM_000043.6(FAS):c.569-1G>T
NM_000043.6(FAS):c.651+5G>T
NM_000043.6(FAS):c.776T>C (p.Ile259Thr) rs1848675068
NM_000043.6(FAS):c.779A>G (p.Asp260Gly)
NM_000043.6(FAS):c.814G>C (p.Glu272Gln)
NM_000043.6(FAS):c.833T>A (p.Leu278His)
NM_000051.3(ATM):c.2467-?_8850+?dup6384
NM_000051.4(ATM):c.1065+1G>A rs201089102
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1065+2T>C
NM_000051.4(ATM):c.1066-1G>A rs876660038
NM_000051.4(ATM):c.1066-1_1081del rs2135289838
NM_000051.4(ATM):c.1066-2A>T rs1555069514
NM_000051.4(ATM):c.1066-3_1072del rs1591517089
NM_000051.4(ATM):c.1092_1235+363del rs1591517314
NM_000051.4(ATM):c.1092_1235+363delinsCTT
NM_000051.4(ATM):c.1235+1G>A rs1555069881
NM_000051.4(ATM):c.1235+1G>C
NM_000051.4(ATM):c.1235+2T>C rs2135296157
NM_000051.4(ATM):c.1235G>C (p.Trp412Ser) rs587779813
NM_000051.4(ATM):c.1236-2del rs1565381646
NM_000051.4(ATM):c.1608-1G>A rs1565385010
NM_000051.4(ATM):c.1608-1G>C rs1565385010
NM_000051.4(ATM):c.1608-2A>C rs2135338498
NM_000051.4(ATM):c.1668_2466+1284del
NM_000051.4(ATM):c.1783_1802+91del rs1555072063
NM_000051.4(ATM):c.1799_1802+5del rs781244480
NM_000051.4(ATM):c.1802+1G>T rs2135344665
NM_000051.4(ATM):c.1803-1G>A
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.185+1G>A rs112805604
NM_000051.4(ATM):c.185+1del rs2078826294
NM_000051.4(ATM):c.186-2A>G rs2078881350
NM_000051.4(ATM):c.1899-1_1902del
NM_000051.4(ATM):c.1899-3_1899-2delinsTG
NM_000051.4(ATM):c.1899-8_1904del rs2080290215
NM_000051.4(ATM):c.2074_2124+280del
NM_000051.4(ATM):c.2124+1G>A rs1555073553
NM_000051.4(ATM):c.2124+1G>T rs1555073553
NM_000051.4(ATM):c.2124+1del rs2080318979
NM_000051.4(ATM):c.2125-15_2128del rs1064792940
NM_000051.4(ATM):c.2125-1G>A rs1402299151
NM_000051.4(ATM):c.2125-2A>C rs1565394403
NM_000051.4(ATM):c.2125-2_2128del rs2135391894
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2376+1G>A rs730881347
NM_000051.4(ATM):c.2376+1G>C rs730881347
NM_000051.4(ATM):c.2376+1G>T rs730881347
NM_000051.4(ATM):c.2376+2T>C rs2135408476
NM_000051.4(ATM):c.2376+2T>G
NM_000051.4(ATM):c.2377-2A>G rs1057516553
NM_000051.4(ATM):c.2377-2A>T rs1057516553
NM_000051.4(ATM):c.2466+2T>A rs878853495
NM_000051.4(ATM):c.2466+2T>C
NM_000051.4(ATM):c.2466+2T>G rs878853495
NM_000051.4(ATM):c.2467-1G>A rs1328985852
NM_000051.4(ATM):c.2467-2A>T rs1555082050
NM_000051.4(ATM):c.2639-2A>G rs1591593566
NM_000051.4(ATM):c.2838+1G>A rs1555083469
NM_000051.4(ATM):c.2838+1G>T rs1555083469
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.4(ATM):c.2922-1G>T rs1555084931
NM_000051.4(ATM):c.3077+1G>A rs192810283
NM_000051.4(ATM):c.3078G>C (p.Trp1026Cys) rs876660869
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys) rs876660869
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.3153+1G>A rs2081646501
NM_000051.4(ATM):c.3153+1G>T rs2081646501
NM_000051.4(ATM):c.3153+2T>C rs2135566959
NM_000051.4(ATM):c.3154-1_3154delinsTT rs2081657007
NM_000051.4(ATM):c.3284+1G>A rs864622129
NM_000051.4(ATM):c.3284+1G>C rs864622129
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys) rs587781815
NM_000051.4(ATM):c.332-3_347del
NM_000051.4(ATM):c.3402+1G>A rs1565439606
NM_000051.4(ATM):c.3402+1G>T rs1565439606
NM_000051.4(ATM):c.3403-1G>A rs1555091120
NM_000051.4(ATM):c.3403-1G>T
NM_000051.4(ATM):c.3571_3576+1del rs2135670424
NM_000051.4(ATM):c.3576+1G>A rs876660621
NM_000051.4(ATM):c.3576+1G>T rs876660621
NM_000051.4(ATM):c.3576G>C (p.Lys1192Asn)
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn) rs587776551
NM_000051.4(ATM):c.3577-1G>C rs1057517226
NM_000051.4(ATM):c.3577-2A>G rs887358871
NM_000051.4(ATM):c.3746+1G>T rs2082309297
NM_000051.4(ATM):c.3746+452_4363del
NM_000051.4(ATM):c.3747-1G>C rs730881364
NM_000051.4(ATM):c.3747-2A>G rs1057517213
NM_000051.4(ATM):c.3747-3_3751del rs1555093256
NM_000051.4(ATM):c.4109+1G>A rs879254034
NM_000051.4(ATM):c.4109+1G>T rs879254034
NM_000051.4(ATM):c.4236+1G>A
NM_000051.4(ATM):c.4236+1G>C
NM_000051.4(ATM):c.4236+1G>T rs876660674
NM_000051.4(ATM):c.4236+1_4236+2del rs2135753954
NM_000051.4(ATM):c.4236+1del rs2135753984
NM_000051.4(ATM):c.4236+2T>A rs1229926683
NM_000051.4(ATM):c.4237-2A>G rs1591662492
NM_000051.4(ATM):c.4426_4436+14del
NM_000051.4(ATM):c.4436+1G>T rs1555097894
NM_000051.4(ATM):c.4611+1G>A rs1565461840
NM_000051.4(ATM):c.4611+1G>T
NM_000051.4(ATM):c.4611+1del rs1565461824
NM_000051.4(ATM):c.4611_4611+9del rs780969040
NM_000051.4(ATM):c.4612-1G>A rs1555100351
NM_000051.4(ATM):c.4777-1G>A rs1591684268
NM_000051.4(ATM):c.4910-1G>T rs1060501706
NM_000051.4(ATM):c.4910-2A>C rs1555103156
NM_000051.4(ATM):c.4910-2A>G rs1555103156
NM_000051.4(ATM):c.4910-2A>T rs1555103156
NM_000051.4(ATM):c.495_496+16del rs1555059522
NM_000051.4(ATM):c.496+1G>A rs876658500
NM_000051.4(ATM):c.496+1G>C rs876658500
NM_000051.4(ATM):c.496+2T>G rs2079249834
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.497-1G>C rs778624615
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.497-2A>G
NM_000051.4(ATM):c.5005+1G>A rs1057517427
NM_000051.4(ATM):c.5006-1G>A rs1591701799
NM_000051.4(ATM):c.5006-2A>G rs2135887733
NM_000051.4(ATM):c.5129_5763-1060del
NM_000051.4(ATM):c.5177+1G>C rs1131691159
NM_000051.4(ATM):c.5177+1del rs2083338520
NM_000051.4(ATM):c.5177+2T>A
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5178-9_5202del rs2135911351
NM_000051.4(ATM):c.5319+1G>A rs876660175
NM_000051.4(ATM):c.5319+1G>T rs876660175
NM_000051.4(ATM):c.5319+1del rs2135916021
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.5319+2T>G rs1555105842
NM_000051.4(ATM):c.5320-1G>C rs2135926774
NM_000051.4(ATM):c.5320-2A>C rs1400417135
NM_000051.4(ATM):c.5496+1G>A rs879254180
NM_000051.4(ATM):c.5496+2T>A
NM_000051.4(ATM):c.5496+2T>G rs1591713093
NM_000051.4(ATM):c.5496+2_5496+5del rs1565479572
NM_000051.4(ATM):c.5675-1G>C rs2135975662
NM_000051.4(ATM):c.5675-24_5699del
NM_000051.4(ATM):c.5763-1G>A rs2136011029
NM_000051.4(ATM):c.5763-2A>G rs876659489
NM_000051.4(ATM):c.5763-2A>T rs876659489
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.4(ATM):c.5918+1G>A rs1591746871
NM_000051.4(ATM):c.5918+1G>T rs1591746871
NM_000051.4(ATM):c.5918+2T>A
NM_000051.4(ATM):c.5919-2A>C rs746623393
NM_000051.4(ATM):c.5919-2A>G rs746623393
NM_000051.4(ATM):c.6007-1G>A rs1365726807
NM_000051.4(ATM):c.6007-2A>G rs2136117225
NM_000051.4(ATM):c.6095+2T>A
NM_000051.4(ATM):c.6095+2T>C rs1057516525
NM_000051.4(ATM):c.6096-1G>C rs1591778339
NM_000051.4(ATM):c.6096-2A>C
NM_000051.4(ATM):c.6116A>T (p.Glu2039Val) rs876659558
NM_000051.4(ATM):c.6188G>A (p.Gly2063Glu) rs866290641
NM_000051.4(ATM):c.6199-2del rs1555114545
NM_000051.4(ATM):c.6348-1G>A rs1057517302
NM_000051.4(ATM):c.6348-1G>C rs1057517302
NM_000051.4(ATM):c.6348-2A>G rs864622367
NM_000051.4(ATM):c.6453-1G>A rs1555117071
NM_000051.4(ATM):c.6453-1G>C rs1555117071
NM_000051.4(ATM):c.6453-1_6457del rs2136238332
NM_000051.4(ATM):c.6453-2A>G rs539978799
NM_000051.4(ATM):c.6572+1G>A rs587779856
NM_000051.4(ATM):c.6572+1G>T rs587779856
NM_000051.4(ATM):c.6572+2T>A
NM_000051.4(ATM):c.6573-12C>A rs1057521666
NM_000051.4(ATM):c.6573-1G>C rs1591128291
NM_000051.4(ATM):c.662+1G>A rs1060501690
NM_000051.4(ATM):c.662+2T>C
NM_000051.4(ATM):c.663-2A>G rs886041931
NM_000051.4(ATM):c.663-2A>T
NM_000051.4(ATM):c.663-2del
NM_000051.4(ATM):c.6807+1_6807+7del
NM_000051.4(ATM):c.6807+2T>C rs2136319469
NM_000051.4(ATM):c.6808-1G>A
NM_000051.4(ATM):c.6808-2A>G
NM_000051.4(ATM):c.6975+1G>A rs1565521129
NM_000051.4(ATM):c.6975+1G>T rs1565521129
NM_000051.4(ATM):c.6975+2T>C rs879254199
NM_000051.4(ATM):c.6976-10_6989del rs587779859
NM_000051.4(ATM):c.7089+1G>A rs777741666
NM_000051.4(ATM):c.7089+1G>C rs777741666
NM_000051.4(ATM):c.7089G>C (p.Lys2363Asn)
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.72+2del rs1555053972
NM_000051.4(ATM):c.7307+1G>A rs2086003529
NM_000051.4(ATM):c.7307+1G>T rs2086003529
NM_000051.4(ATM):c.7307+2dup rs2086004268
NM_000051.4(ATM):c.7308-15A>G
NM_000051.4(ATM):c.7308-1G>C rs1555122941
NM_000051.4(ATM):c.7308-2A>C rs1555122938
NM_000051.4(ATM):c.7308-2_7308-1delinsTT rs2136451316
NM_000051.4(ATM):c.7515+1G>A rs1591161831
NM_000051.4(ATM):c.7515+1G>T rs1591161831
NM_000051.4(ATM):c.7516-1G>C
NM_000051.4(ATM):c.7516-2A>G
NM_000051.4(ATM):c.7629+1G>A rs1565532703
NM_000051.4(ATM):c.7629+1del
NM_000051.4(ATM):c.7788+1G>A rs1565534524
NM_000051.4(ATM):c.7788+1G>C rs1565534524
NM_000051.4(ATM):c.7788+1G>T rs1565534524
NM_000051.4(ATM):c.7788+3A>G rs869312788
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7789-1G>A rs1591177953
NM_000051.4(ATM):c.7927+1G>A rs1555125532
NM_000051.4(ATM):c.7927+1G>C rs1555125532
NM_000051.4(ATM):c.7927+2T>C
NM_000051.4(ATM):c.7927+2T>G rs2086432758
NM_000051.4(ATM):c.7928-2A>G rs864622610
NM_000051.4(ATM):c.7928-2A>T rs864622610
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000051.4(ATM):c.7997C>T (p.Thr2666Ile) rs730881384
NM_000051.4(ATM):c.8010+1del rs876659350
NM_000051.4(ATM):c.8010+2T>C rs1591184927
NM_000051.4(ATM):c.8010+2T>G
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys) rs28942103
NM_000051.4(ATM):c.8056T>C (p.Phe2686Leu) rs1555127125
NM_000051.4(ATM):c.8105T>C (p.Ile2702Thr) rs876659735
NM_000051.4(ATM):c.8122G>C (p.Asp2708His) rs587782719
NM_000051.4(ATM):c.8148_8151+2del rs1565541335
NM_000051.4(ATM):c.8189A>C (p.Gln2730Pro) rs762154857
NM_000051.4(ATM):c.8268+1G>A rs876658957
NM_000051.4(ATM):c.8268+1G>C rs876658957
NM_000051.4(ATM):c.8268+1G>T rs876658957
NM_000051.4(ATM):c.8268+2T>C rs1565544020
NM_000051.4(ATM):c.8294G>A (p.Gly2765Asp) rs1565557835
NM_000051.4(ATM):c.8294G>C (p.Gly2765Ala)
NM_000051.4(ATM):c.8294G>T (p.Gly2765Val) rs1565557835
NM_000051.4(ATM):c.8418+1G>A rs766533795
NM_000051.4(ATM):c.8418+1_8418+3del rs2136953867
NM_000051.4(ATM):c.8418+5G>A rs1305740166
NM_000051.4(ATM):c.8419-2A>C rs1555137917
NM_000051.4(ATM):c.8419-2A>G rs1555137917
NM_000051.4(ATM):c.8485C>T (p.Pro2829Ser) rs2137030040
NM_000051.4(ATM):c.8495G>C (p.Arg2832Pro) rs529296539
NM_000051.4(ATM):c.8564G>T (p.Ser2855Ile) rs2088303841
NM_000051.4(ATM):c.8565T>A (p.Ser2855Arg) rs780905851
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del) rs786203976
NM_000051.4(ATM):c.8578_8584+17del
NM_000051.4(ATM):c.8585-2A>C rs1060501700
NM_000051.4(ATM):c.8668_8671+9del rs2088564736
NM_000051.4(ATM):c.8671+1G>A
NM_000051.4(ATM):c.8671+1G>T rs1555139694
NM_000051.4(ATM):c.8672-1G>A rs876660088
NM_000051.4(ATM):c.8672-1G>C rs876660088
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.4(ATM):c.8712G>C (p.Glu2904Asp)
NM_000051.4(ATM):c.8786_8786+3del rs1060501569
NM_000051.4(ATM):c.8787-1G>A
NM_000051.4(ATM):c.8787-2A>G rs2089688512
NM_000051.4(ATM):c.8850+1G>T
NM_000051.4(ATM):c.8850+2T>G rs1555143623
NM_000051.4(ATM):c.8851-1G>T rs1057516537
NM_000051.4(ATM):c.8851-2A>G rs886039647
NM_000051.4(ATM):c.8851-4_8852del rs2091196613
NM_000051.4(ATM):c.8988-1G>T rs730881386
NM_000051.4(ATM):c.901+1_901+26del rs1380265721
NM_000051.4(ATM):c.901+3A>T rs786203070
NM_000051.4(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000051.4(ATM):c.9022C>G (p.Arg3008Gly) rs587782292
NM_000051.4(ATM):c.9023G>C (p.Arg3008Pro) rs587781894
NM_000051.4(ATM):c.9132_9135dup (p.Arg3047fs) rs2137926139
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs) rs1555152058
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly) rs2091262473
NM_000051.4(ATM):c.9170G>C (p.Ter3057Ser) rs2091262802
NM_000073.3(CD3G):c.70_79+5del
NM_000074.3(CD40LG):c.346G>T (p.Gly116Cys) rs2148552406
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.761C>A (p.Thr254Lys) rs193922136
NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser) rs1057521128
NM_000081.4(LYST):c.3713-2A>C
NM_000081.4(LYST):c.4862+2T>A
NM_000081.4(LYST):c.4863-1G>C
NM_000081.4(LYST):c.5023+1G>A
NM_000081.4(LYST):c.5214+1G>C
NM_000081.4(LYST):c.5923-1G>A
NM_000081.4(LYST):c.5923-2A>G
NM_000081.4(LYST):c.6254-1G>C
NM_000081.4(LYST):c.7460+2T>A
NM_000081.4(LYST):c.7460+3_7460+6del
NM_000081.4(LYST):c.7461-1G>A
NM_000081.4(LYST):c.8358+1G>C
NM_000081.4(LYST):c.8358+2T>C
NM_000081.4(LYST):c.8802-2A>G
NM_000081.4(LYST):c.9044+1G>A
NM_000081.4(LYST):c.9627+1G>A
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
NM_000081.4(LYST):c.9925+1G>T
NM_000081.4(LYST):c.9925+2T>C
NM_000101.4(CYBA):c.128+2T>C rs1191361764
NM_000101.4(CYBA):c.129-1G>T rs1445023836
NM_000101.4(CYBA):c.203+102_404del
NM_000101.4(CYBA):c.268C>G (p.Arg90Gly) rs179363892
NM_000101.4(CYBA):c.287+2_287+3del rs2142875237
NM_000101.4(CYBA):c.288-1G>A
NM_000101.4(CYBA):c.288-1G>T
NM_000101.4(CYBA):c.288-3_300del rs1567608830
NM_000101.4(CYBA):c.345del (p.Ile116fs) rs2142873834
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) rs104894514
NM_000101.4(CYBA):c.385G>T (p.Glu129Ter)
NM_000101.4(CYBA):c.58+2T>C
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAFAZZIN):c.236_238+5del rs2068331233
NM_000116.5(TAFAZZIN):c.238+2_238+9del rs1603376938
NM_000116.5(TAFAZZIN):c.528_541+7del rs2068570435
NM_000116.5(TAFAZZIN):c.542-2A>G rs2068574381
NM_000116.5(TAFAZZIN):c.580_583+10del
NM_000116.5(TAFAZZIN):c.584-1G>A
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.700-1del
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000135.4(FANCA):c.1006+1G>T rs1555564436
NM_000135.4(FANCA):c.1007-2A>G rs2040110878
NM_000135.4(FANCA):c.1083+1G>A
NM_000135.4(FANCA):c.1225+2T>A
NM_000135.4(FANCA):c.1225+2T>G
NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro) rs1060501879
NM_000135.4(FANCA):c.1308G>C (p.Gln436His) rs1316078638
NM_000135.4(FANCA):c.1360-2A>G
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1566+1G>T
NM_000135.4(FANCA):c.1566+2C>G
NM_000135.4(FANCA):c.1567-1G>C rs1464032361
NM_000135.4(FANCA):c.1627-2A>G rs2143433058
NM_000135.4(FANCA):c.1715+1G>A
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1716-2A>G
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.1777-2A>G rs2143422990
NM_000135.4(FANCA):c.1777-3_1783del rs2039605605
NM_000135.4(FANCA):c.1826+2T>A rs2039603867
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.189+2T>A rs2041094594
NM_000135.4(FANCA):c.190-2_203del rs2143711687
NM_000135.4(FANCA):c.1900+1G>T rs1598120768
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.2014+1G>A
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2015-1G>T rs1555548632
NM_000135.4(FANCA):c.2015-2A>C rs2143351760
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.2151+2T>C rs937874201
NM_000135.4(FANCA):c.2152-1G>A
NM_000135.4(FANCA):c.2222+1G>T rs775388912
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2317-1G>A rs1230207719
NM_000135.4(FANCA):c.2317-1G>T rs1230207719
NM_000135.4(FANCA):c.2504+1G>C rs2039260545
NM_000135.4(FANCA):c.2505-1G>C rs1438990537
NM_000135.4(FANCA):c.2605C>G (p.Gln869Glu)
NM_000135.4(FANCA):c.2779-1G>T rs2143261385
NM_000135.4(FANCA):c.283+1_283+11del rs2143710613
NM_000135.4(FANCA):c.284-1G>C rs781216924
NM_000135.4(FANCA):c.284-2A>C
NM_000135.4(FANCA):c.284-940_339del
NM_000135.4(FANCA):c.2852+2T>G rs766875860
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.3066+1G>A rs587783028
NM_000135.4(FANCA):c.3066+1G>C
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3067-2A>G rs2143140176
NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly) rs753063086
NM_000135.4(FANCA):c.3240-1G>A rs2038478071
NM_000135.4(FANCA):c.3392C>A (p.Thr1131Asn)
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile) rs2143109078
NM_000135.4(FANCA):c.3408+1G>C rs1567601557
NM_000135.4(FANCA):c.3409-2A>G
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu) rs2038399117
NM_000135.4(FANCA):c.3513+1G>C
NM_000135.4(FANCA):c.3514-1G>T rs2143088468
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3626+1G>C rs34885858
NM_000135.4(FANCA):c.3626+2T>G
NM_000135.4(FANCA):c.3627-3_3627-2del rs2062172458
NM_000135.4(FANCA):c.3765+2C>T rs776827467
NM_000135.4(FANCA):c.3766-1G>A
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del) rs1183256870
NM_000135.4(FANCA):c.3829-71_3868del
NM_000135.4(FANCA):c.3934+1G>A rs2062087795
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4010+2T>C rs2062067746
NM_000135.4(FANCA):c.4011-1G>A rs761988162
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro) rs149851163
NM_000135.4(FANCA):c.423_426+14del rs2143678941
NM_000135.4(FANCA):c.426+1G>A rs1343463467
NM_000135.4(FANCA):c.426+2T>A rs1598190568
NM_000135.4(FANCA):c.426+2T>C
NM_000135.4(FANCA):c.426+2T>G rs1598190568
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.427-2A>G rs765684774
NM_000135.4(FANCA):c.4275del (p.Asp1427fs) rs1598048941
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn) rs748856769
NM_000135.4(FANCA):c.4285G>C (p.Asp1429His) rs748856769
NM_000135.4(FANCA):c.4285G>T (p.Asp1429Tyr)
NM_000135.4(FANCA):c.522+2T>C rs2143677013
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000135.4(FANCA):c.523-2A>G rs746518509
NM_000135.4(FANCA):c.596+1G>A
NM_000135.4(FANCA):c.596+1G>C rs2143656696
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.710-1G>A
NM_000135.4(FANCA):c.710-1G>T
NM_000135.4(FANCA):c.793-2A>G
NM_000135.4(FANCA):c.826+2T>C rs2143585058
NM_000135.4(FANCA):c.827-1G>A
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000135.4(FANCA):c.893+1G>C
NM_000136.3(FANCC):c.1072+1G>A rs1554830789
NM_000136.3(FANCC):c.1072+2T>A
NM_000136.3(FANCC):c.1155-1G>C rs1554829575
NM_000136.3(FANCC):c.1155-2A>G rs1343170313
NM_000136.3(FANCC):c.1330-2A>C rs2134456820
NM_000136.3(FANCC):c.1330-2A>G
NM_000136.3(FANCC):c.165+1del rs1554858249
NM_000136.3(FANCC):c.250+1G>A rs2136090597
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.346-1G>T rs1484503633
NM_000136.3(FANCC):c.456+1G>A rs2135587402
NM_000136.3(FANCC):c.457-1G>T rs1057516917
NM_000136.3(FANCC):c.686+1G>C rs1057517125
NM_000136.3(FANCC):c.686+1G>T rs1057517125
NM_000136.3(FANCC):c.687-1G>A rs1588134748
NM_000136.3(FANCC):c.843+1G>C rs587779909
NM_000136.3(FANCC):c.843+1G>T rs587779909
NM_000136.3(FANCC):c.844-1G>A
NM_000136.3(FANCC):c.844-1G>T rs774209201
NM_000136.3(FANCC):c.896+1G>C rs1554833186
NM_000136.3(FANCC):c.896+2T>A rs863224441
NM_000136.3(FANCC):c.896+2T>G rs863224441
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>C rs370510954
NM_000136.3(FANCC):c.996+1_996+2insGA rs1825770738
NM_000136.3(FANCC):c.996+2T>C
NM_000178.4(GSS):c.1030-1G>C rs2081400664
NM_000178.4(GSS):c.1139_1144del (p.Val380_Gln381del) rs770455024
NM_000178.4(GSS):c.130-1G>C
NM_000178.4(GSS):c.275+1G>A
NM_000178.4(GSS):c.351+1G>C
NM_000178.4(GSS):c.609-2A>C
NM_000178.4(GSS):c.656A>C (p.Asp219Ala)
NM_000206.3(IL2RG):c.116-1G>A rs2147751144
NM_000206.3(IL2RG):c.116-2A>G rs2147751146
NM_000206.3(IL2RG):c.340G>T (p.Gly114Cys) rs2147750359
NM_000206.3(IL2RG):c.344G>A (p.Cys115Tyr) rs1556330755
NM_000206.3(IL2RG):c.344G>T (p.Cys115Phe) rs1556330755
NM_000206.3(IL2RG):c.395T>A (p.Leu132His) rs2092261278
NM_000206.3(IL2RG):c.437T>C (p.Leu146Pro)
NM_000206.3(IL2RG):c.467C>T (p.Ala156Val) rs1057521062
NM_000206.3(IL2RG):c.485T>G (p.Leu162Arg) rs2092260648
NM_000206.3(IL2RG):c.515T>A (p.Leu172Gln)
NM_000206.3(IL2RG):c.545G>C (p.Cys182Ser) rs1064794027
NM_000206.3(IL2RG):c.594+5G>A rs2147749578
NM_000206.3(IL2RG):c.594+5G>T rs2147749578
NM_000206.3(IL2RG):c.671G>C (p.Arg224Pro)
NM_000206.3(IL2RG):c.675C>A (p.Ser225Arg) rs1569479913
NM_000206.3(IL2RG):c.675C>G (p.Ser225Arg) rs1569479913
NM_000206.3(IL2RG):c.692G>A (p.Cys231Tyr)
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg) rs1569479909
NM_000206.3(IL2RG):c.854+2T>C rs2147747293
NM_000211.5(ITGB2):c.1835G>T (p.Cys612Phe) rs2083749716
NM_000211.5(ITGB2):c.741+1G>A rs1131691763
NM_000211.5(ITGB2):c.742-163_768del
NM_000211.5(ITGB2):c.898-1G>C rs755834578
NM_000211.5(ITGB2):c.993+1G>T
NM_000215.4(JAK3):c.1205G>A (p.Arg402His)
NM_000215.4(JAK3):c.1207C>T (p.Arg403Cys)
NM_000215.4(JAK3):c.1289T>C (p.Ile430Thr)
NM_000215.4(JAK3):c.1441+1G>T
NM_000215.4(JAK3):c.1786+1G>A
NM_000215.4(JAK3):c.1786+2_1786+5del
NM_000215.4(JAK3):c.1914+1G>A rs936493226
NM_000215.4(JAK3):c.1915-1G>A
NM_000215.4(JAK3):c.2350+1G>C
NM_000215.4(JAK3):c.2350+1G>T
NM_000215.4(JAK3):c.2490+1G>T rs2147678827
NM_000215.4(JAK3):c.2670C>G (p.Ser890Arg)
NM_000215.4(JAK3):c.2806-2A>C
NM_000215.4(JAK3):c.2978+1G>C
NM_000215.4(JAK3):c.308+2T>C
NM_000215.4(JAK3):c.420+2T>C
NM_000215.4(JAK3):c.437T>G (p.Val146Gly)
NM_000246.4(CIITA):c.200-1G>C
NM_000246.4(CIITA):c.2657+1G>A rs2039309312
NM_000246.4(CIITA):c.2889-1G>T rs748505119
NM_000246.4(CIITA):c.3062+2T>C rs2039957389
NM_000246.4(CIITA):c.3147_3149+2del rs2145059680
NM_000246.4(CIITA):c.359-2A>G rs2144414230
NM_000246.4(CIITA):c.436+1G>C
NM_000246.4(CIITA):c.436+2T>C
NM_000246.4(CIITA):c.481+1G>A
NM_000246.4(CIITA):c.482-1G>C
NM_000246.4(CIITA):c.772+1G>T
NM_000246.4(CIITA):c.937+2T>C
NM_000246.4(CIITA):c.938-2A>G rs2144645392
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648
NM_000271.5(NPC1):c.1166G>T (p.Arg389Leu) rs373751051
NM_000271.5(NPC1):c.1327-2dup rs1555636712
NM_000271.5(NPC1):c.1420C>G (p.Pro474Ala)
NM_000271.5(NPC1):c.1436G>C (p.Cys479Ser)
NM_000271.5(NPC1):c.1534C>T (p.His512Tyr)
NM_000271.5(NPC1):c.1550T>A (p.Val517Glu) rs2145446753
NM_000271.5(NPC1):c.1612G>C (p.Gly538Arg) rs2145433298
NM_000271.5(NPC1):c.1627C>T (p.Pro543Ser) rs2145433190
NM_000271.5(NPC1):c.1757+1G>A
NM_000271.5(NPC1):c.1758-3_1761del
NM_000271.5(NPC1):c.180+1G>C rs2059231880
NM_000271.5(NPC1):c.180+1G>T
NM_000271.5(NPC1):c.1843C>A (p.Arg615Ser) rs745777805
NM_000271.5(NPC1):c.1844G>A (p.Arg615His) rs773351341
NM_000271.5(NPC1):c.187T>C (p.Cys63Arg)
NM_000271.5(NPC1):c.188G>A (p.Cys63Tyr) rs2145544950
NM_000271.5(NPC1):c.1990G>C (p.Val664Leu) rs376213990
NM_000271.5(NPC1):c.2053A>C (p.Ile685Leu)
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln) rs1555634422
NM_000271.5(NPC1):c.2108T>C (p.Phe703Ser) rs2058753693
NM_000271.5(NPC1):c.2134G>A (p.Asp712Asn)
NM_000271.5(NPC1):c.2134G>T (p.Asp712Tyr)
NM_000271.5(NPC1):c.2200A>G (p.Ser734Gly) rs2145394815
NM_000271.5(NPC1):c.2200A>T (p.Ser734Cys)
NM_000271.5(NPC1):c.2201G>C (p.Ser734Thr)
NM_000271.5(NPC1):c.2290G>T (p.Ala764Ser)
NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly) rs1555633697
NM_000271.5(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000271.5(NPC1):c.2489T>C (p.Leu830Pro)
NM_000271.5(NPC1):c.2514+1G>A
NM_000271.5(NPC1):c.2522T>A (p.Ile841Lys)
NM_000271.5(NPC1):c.2525T>C (p.Phe842Ser)
NM_000271.5(NPC1):c.2567T>C (p.Val856Ala)
NM_000271.5(NPC1):c.2593T>A (p.Ser865Thr)
NM_000271.5(NPC1):c.2593T>C (p.Ser865Pro)
NM_000271.5(NPC1):c.2604+1G>A rs1555633454
NM_000271.5(NPC1):c.2796-2A>T
NM_000271.5(NPC1):c.2818T>C (p.Ser940Pro)
NM_000271.5(NPC1):c.2844C>G (p.Asp948Glu)
NM_000271.5(NPC1):c.2911+2del rs2058678962
NM_000271.5(NPC1):c.2912-2A>C rs1555632994
NM_000271.5(NPC1):c.2926T>C (p.Cys976Arg)
NM_000271.5(NPC1):c.2932C>A (p.Arg978Ser) rs28942108
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp) rs1555632971
NM_000271.5(NPC1):c.3035G>A (p.Gly1012Asp)
NM_000271.5(NPC1):c.3041+2del rs2058665849
NM_000271.5(NPC1):c.3042-1G>A rs771806960
NM_000271.5(NPC1):c.3042-2_3042-1del
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg) rs2058637844
NM_000271.5(NPC1):c.3100G>C (p.Gly1034Arg)
NM_000271.5(NPC1):c.3106A>T (p.Thr1036Ser)
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3185C>T (p.Ala1062Val)
NM_000271.5(NPC1):c.3246-2A>G rs886042268
NM_000271.5(NPC1):c.3266A>G (p.Glu1089Gly)
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3433T>C (p.Trp1145Arg) rs2145350224
NM_000271.5(NPC1):c.3435G>C (p.Trp1145Cys)
NM_000271.5(NPC1):c.3451G>T (p.Ala1151Ser)
NM_000271.5(NPC1):c.3467A>C (p.Asn1156Thr)
NM_000271.5(NPC1):c.3478-1G>C
NM_000271.5(NPC1):c.3493G>T (p.Val1165Leu) rs748862167
NM_000271.5(NPC1):c.3502T>G (p.Cys1168Gly)
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg) rs1567977251
NM_000271.5(NPC1):c.3557G>T (p.Arg1186Leu)
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly) rs113371321
NM_000271.5(NPC1):c.3571C>G (p.Leu1191Val)
NM_000271.5(NPC1):c.3572T>C (p.Leu1191Pro)
NM_000271.5(NPC1):c.3591+121C>T
NM_000271.5(NPC1):c.3634G>A (p.Val1212Met)
NM_000271.5(NPC1):c.3647C>T (p.Ala1216Val)
NM_000271.5(NPC1):c.3731T>C (p.Leu1244Pro)
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000271.5(NPC1):c.463+1G>A
NM_000271.5(NPC1):c.463+2T>G rs2145526252
NM_000271.5(NPC1):c.500C>T (p.Ser167Leu)
NM_000271.5(NPC1):c.631+1G>T
NM_000271.5(NPC1):c.881+1G>A
NM_000271.5(NPC1):c.956-1G>T
NM_000355.4(TCN2):c.258-1G>A
NM_000355.4(TCN2):c.428-2A>G rs2087581122
NM_000355.4(TCN2):c.580+1G>C
NM_000355.4(TCN2):c.65-1_65delinsTT rs2145536487
NM_000355.4(TCN2):c.941-2A>G
NM_000377.3(WAS):c.1339-2A>G rs2147267240
NM_000377.3(WAS):c.142A>C (p.Thr48Pro) rs2062412197
NM_000377.3(WAS):c.250T>C (p.Phe84Leu) rs2147262951
NM_000377.3(WAS):c.373G>C (p.Gly125Arg) rs2147263882
NM_000377.3(WAS):c.383T>G (p.Phe128Cys)
NM_000377.3(WAS):c.463+1G>A
NM_000377.3(WAS):c.70T>C (p.Ser24Pro) rs2062410722
NM_000383.4(AIRE):c.1278+1del rs996389327
NM_000383.4(AIRE):c.1279-2A>G rs1555873087
NM_000383.4(AIRE):c.132+2T>C
NM_000383.4(AIRE):c.1400+1G>A rs1469386000
NM_000383.4(AIRE):c.1400+2T>C
NM_000383.4(AIRE):c.1401-1G>A
NM_000383.4(AIRE):c.1503+1G>A
NM_000383.4(AIRE):c.1503+1G>T rs1156582406
NM_000383.4(AIRE):c.173C>G (p.Ala58Gly) rs747941115
NM_000383.4(AIRE):c.23G>A (p.Arg8His)
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu) rs121434255
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)
NM_000383.4(AIRE):c.290T>C (p.Leu97Pro) rs2146375951
NM_000383.4(AIRE):c.307+2T>G rs2146375964
NM_000383.4(AIRE):c.43C>G (p.Arg15Gly) rs179363875
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.4(AIRE):c.46A>G (p.Thr16Ala)
NM_000383.4(AIRE):c.539-2A>G rs2146377702
NM_000383.4(AIRE):c.54C>G (p.Ile18Met)
NM_000383.4(AIRE):c.652+2T>C rs1555872272
NM_000383.4(AIRE):c.798+1G>C rs138489664
NM_000383.4(AIRE):c.798+1G>T rs138489664
NM_000383.4(AIRE):c.995+1G>A
NM_000383.4(AIRE):c.995+1G>C
NM_000383.4(AIRE):c.996-1G>A
NM_000397.4(CYBB):c.1081T>A (p.Trp361Arg)
NM_000397.4(CYBB):c.1152-1G>A rs1929527785
NM_000397.4(CYBB):c.160A>G (p.Arg54Gly)
NM_000397.4(CYBB):c.1610G>T (p.Cys537Phe)
NM_000397.4(CYBB):c.169G>T (p.Ala57Ser)
NM_000397.4(CYBB):c.252+5G>C rs1602175016
NM_000397.4(CYBB):c.253-8A>G rs1064793093
NM_000397.4(CYBB):c.301C>T (p.His101Tyr) rs137854594
NM_000397.4(CYBB):c.424T>C (p.Ser142Pro) rs2146810272
NM_000397.4(CYBB):c.45+2del rs1602173465
NM_000397.4(CYBB):c.483+5G>A rs1929245964
NM_000397.4(CYBB):c.483G>A (p.Lys161=)
NM_000397.4(CYBB):c.769T>C (p.Cys257Arg) rs2146813743
NM_000417.3(IL2RA):c.368-1G>A
NM_000417.3(IL2RA):c.583+2T>C rs2132853537
NM_000417.3(IL2RA):c.655+1G>A
NM_000431.4(MVK):c.439G>A (p.Ala147Thr) rs104895363
NM_000431.4(MVK):c.494C>T (p.Pro165Leu) rs121917790
NM_000431.4(MVK):c.500C>A (p.Pro167Gln)
NM_000431.4(MVK):c.632-2A>C
NM_000431.4(MVK):c.677+1G>T
NM_000431.4(MVK):c.78+1G>A rs1884864809
NM_000431.4(MVK):c.79-2A>G rs1884932883
NM_000431.4(MVK):c.799T>C (p.Ser267Pro) rs1885666876
NM_000431.4(MVK):c.893T>C (p.Ile298Thr)
NM_000433.4(NCF2):c.1000+1G>A rs2102887348
NM_000433.4(NCF2):c.1026+1G>C rs1558092897
NM_000433.4(NCF2):c.1180T>G (p.Tyr394Asp)
NM_000433.4(NCF2):c.257+1G>A rs990043411
NM_000433.4(NCF2):c.367-1G>A rs759285400
NM_000433.4(NCF2):c.609+1G>A rs2102903043
NM_000433.4(NCF2):c.609+2T>C
NM_000433.4(NCF2):c.669+1G>A rs2102898304
NM_000433.4(NCF2):c.714-2A>G
NM_000433.4(NCF2):c.925-2A>G
NM_000448.3(RAG1):c.1232T>C (p.Leu411Pro) rs1554944877
NM_000448.3(RAG1):c.1361T>A (p.Leu454Gln) rs199474677
NM_000448.3(RAG1):c.1519C>T (p.Arg507Trp) rs104894298
NM_000448.3(RAG1):c.1856C>T (p.Pro619Leu)
NM_000448.3(RAG1):c.2006A>G (p.Glu669Gly) rs199474689
NM_000448.3(RAG1):c.2096G>A (p.Arg699Gln)
NM_000448.3(RAG1):c.2125G>A (p.Gly709Ser)
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys) rs749027430
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp)
NM_000448.3(RAG1):c.2411C>T (p.Ala804Val) rs2133297485
NM_000448.3(RAG1):c.2780T>C (p.Phe927Ser)
NM_000448.3(RAG1):c.2918G>C (p.Arg973Pro) rs1384545687
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp) rs121918568
NM_000536.4(RAG2):c.103G>A (p.Gly35Ser)
NM_000536.4(RAG2):c.122G>A (p.Cys41Tyr)
NM_000536.4(RAG2):c.1328T>C (p.Met443Thr) rs1406618487
NM_000536.4(RAG2):c.1375A>C (p.Met459Leu) rs1204766339
NM_000536.4(RAG2):c.1375A>G (p.Met459Val)
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe) rs1590713653
NM_000536.4(RAG2):c.217C>G (p.Arg73Gly)
NM_000536.4(RAG2):c.284G>A (p.Gly95Glu)
NM_000536.4(RAG2):c.302A>G (p.Asn101Ser)
NM_000536.4(RAG2):c.303T>A (p.Asn101Lys)
NM_000536.4(RAG2):c.419A>G (p.His140Arg) rs1335036396
NM_000536.4(RAG2):c.469G>A (p.Gly157Arg) rs756676209
NM_000536.4(RAG2):c.470G>C (p.Gly157Ala) rs1564997121
NM_000536.4(RAG2):c.476G>A (p.Arg159His) rs2133314621
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser) rs1159686210
NM_000536.4(RAG2):c.608G>A (p.Gly203Glu) rs1851081720
NM_000536.4(RAG2):c.653T>A (p.Ile218Asn)
NM_000536.4(RAG2):c.686G>T (p.Arg229Leu) rs121917894
NM_000536.4(RAG2):c.913C>G (p.Pro305Ala) rs370666759
NM_000536.4(RAG2):c.914C>T (p.Pro305Leu)
NM_000536.4(RAG2):c.954del (p.Phe318fs) rs2133312873
NM_000536.4(RAG2):c.95G>T (p.Gly32Val)
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys) rs281860668
NM_000543.5(SMPD1):c.1076C>T (p.Ala359Val) rs797044800
NM_000543.5(SMPD1):c.1091+1G>A rs1847955457
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
NM_000543.5(SMPD1):c.1132C>T (p.Arg378Cys) rs369088417
NM_000543.5(SMPD1):c.1144C>G (p.Leu382Val)
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe) rs281860666
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser) rs120074123
NM_000543.5(SMPD1):c.1154A>T (p.Asn385Ile)
NM_000543.5(SMPD1):c.1263+1G>A rs2134018090
NM_000543.5(SMPD1):c.1264-1G>A rs1057516454
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1264-2A>G rs774309925
NM_000543.5(SMPD1):c.1279C>A (p.His427Asn) rs760930408
NM_000543.5(SMPD1):c.1279C>T (p.His427Tyr)
NM_000543.5(SMPD1):c.1280A>T (p.His427Leu) rs794727629
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu) rs281860669
NM_000543.5(SMPD1):c.1288C>G (p.Pro430Ala)
NM_000543.5(SMPD1):c.1288C>T (p.Pro430Ser) rs140688153
NM_000543.5(SMPD1):c.1289C>T (p.Pro430Leu)
NM_000543.5(SMPD1):c.1340+2T>C
NM_000543.5(SMPD1):c.1340+2T>G rs1301641750
NM_000543.5(SMPD1):c.1340+2_1340+9del
NM_000543.5(SMPD1):c.1341-21_1341-18del
NM_000543.5(SMPD1):c.1358C>A (p.Ala453Asp)
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro) rs794727705
NM_000543.5(SMPD1):c.1393T>C (p.Phe465Leu) rs1258231226
NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu) rs1848061944
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys) rs267607074
NM_000543.5(SMPD1):c.1430C>A (p.Pro477Gln) rs753508874
NM_000543.5(SMPD1):c.1457G>A (p.Ser486Asn) rs2134021618
NM_000543.5(SMPD1):c.1486+5G>C
NM_000543.5(SMPD1):c.1492C>A (p.Arg498Ser)
NM_000543.5(SMPD1):c.1493G>C (p.Arg498Pro) rs120074117
NM_000543.5(SMPD1):c.1546C>T (p.His516Tyr)
NM_000543.5(SMPD1):c.1547A>T (p.His516Leu)
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000543.5(SMPD1):c.1736G>A (p.Gly579Asp)
NM_000543.5(SMPD1):c.1804del (p.Arg602fs) rs1848099900
NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys)
NM_000543.5(SMPD1):c.1829G>A (p.Arg610His)
NM_000543.5(SMPD1):c.318+2T>C rs1225462507
NM_000543.5(SMPD1):c.319-2A>G
NM_000543.5(SMPD1):c.476G>A (p.Cys159Tyr)
NM_000543.5(SMPD1):c.610C>A (p.Leu204Ile)
NM_000543.5(SMPD1):c.611T>A (p.Leu204His) rs2134010621
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
NM_000543.5(SMPD1):c.633G>C (p.Trp211Cys)
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly) rs1847923379
NM_000543.5(SMPD1):c.688C>A (p.Arg230Ser)
NM_000543.5(SMPD1):c.731G>A (p.Gly244Glu)
NM_000543.5(SMPD1):c.731G>C (p.Gly244Ala) rs2134011288
NM_000543.5(SMPD1):c.749G>A (p.Ser250Asn)
NM_000543.5(SMPD1):c.840C>G (p.Asp280Glu) rs2134011919
NM_000543.5(SMPD1):c.910C>G (p.Leu304Val) rs2134012389
NM_000543.5(SMPD1):c.910C>T (p.Leu304Phe) rs2134012389
NM_000543.5(SMPD1):c.941T>C (p.Val314Ala)
NM_000543.5(SMPD1):c.961C>T (p.His321Tyr) rs2134012749
NM_000543.5(SMPD1):c.973C>T (p.Pro325Ser)
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)
NM_000543.5(SMPD1):c.994C>T (p.Pro332Ser)
NM_000543.5(SMPD1):c.995C>A (p.Pro332His)
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu) rs202081954
NM_000551.4(VHL):c.160A>T (p.Met54Leu) rs1696125033
NM_000551.4(VHL):c.161T>G (p.Met54Arg)
NM_000551.4(VHL):c.162G>A (p.Met54Ile)
NM_000551.4(VHL):c.188T>A (p.Leu63Gln) rs104893827
NM_000551.4(VHL):c.190C>A (p.Arg64Ser) rs1487408934
NM_000551.4(VHL):c.203C>T (p.Ser68Leu) rs869025617
NM_000551.4(VHL):c.208G>C (p.Glu70Gln) rs5030802
NM_000551.4(VHL):c.220G>T (p.Val74Phe)
NM_000551.4(VHL):c.221T>A (p.Val74Asp) rs5030803
NM_000551.4(VHL):c.224T>G (p.Ile75Ser) rs1064794271
NM_000551.4(VHL):c.233A>T (p.Asn78Ile) rs5030804
NM_000551.4(VHL):c.242C>A (p.Pro81Gln) rs193922608
NM_000551.4(VHL):c.245G>A (p.Arg82His) rs794726890
NM_000551.4(VHL):c.265C>T (p.Leu89Phe) rs1575922124
NM_000551.4(VHL):c.277G>C (p.Gly93Arg) rs5030808
NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val) rs1559426072
NM_000551.4(VHL):c.302T>C (p.Leu101Pro) rs1553619456
NM_000551.4(VHL):c.308C>T (p.Pro103Leu) rs2125125299
NM_000551.4(VHL):c.340+574A>T rs982745672
NM_000551.4(VHL):c.340+694_340+711dup rs1575923363
NM_000551.4(VHL):c.345C>A (p.His115Gln) rs864622646
NM_000551.4(VHL):c.350G>C (p.Trp117Ser)
NM_000551.4(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.4(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.4(VHL):c.362A>T (p.Asp121Val) rs5030832
NM_000551.4(VHL):c.376G>T (p.Asp126Tyr) rs104893831
NM_000551.4(VHL):c.391A>T (p.Asn131Tyr) rs2125128340
NM_000551.4(VHL):c.416C>T (p.Ser139Phe) rs587780732
NM_000551.4(VHL):c.446C>T (p.Ala149Val) rs1696266503
NM_000551.4(VHL):c.460C>A (p.Pro154Thr)
NM_000551.4(VHL):c.460C>G (p.Pro154Ala) rs1553619993
NM_000551.4(VHL):c.464T>G (p.Val155Gly)
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
NM_000551.4(VHL):c.487C>A (p.Leu163Ile)
NM_000551.4(VHL):c.488T>C (p.Leu163Pro) rs28940297
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter) rs864622109
NM_000551.4(VHL):c.563T>G (p.Leu188Arg) rs1559429824
NM_000551.4(VHL):c.571C>G (p.His191Asp) rs28940301
NM_000551.4(VHL):c.572A>C (p.His191Pro) rs370050374
NM_000551.4(VHL):c.574C>A (p.Pro192Thr) rs28940300
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.575C>G (p.Pro192Arg) rs902694906
NM_000551.4(VHL):c.586A>G (p.Lys196Glu) rs281860296
NM_000551.4(VHL):c.593T>A (p.Leu198Gln) rs869025667
NM_000551.4(VHL):c.599G>T (p.Arg200Leu) rs754016774
NM_000551.4(VHL):c.640T>A (p.Ter214Arg) rs1575932781
NM_000551.4(VHL):c.640T>C (p.Ter214Arg)
NM_000551.4(VHL):c.641G>T (p.Ter214Leu) rs869025668
NM_000593.6(TAP1):c.1740+2T>C
NM_000628.5(IL10RB):c.173+2T>G rs2123561272
NM_000628.5(IL10RB):c.174-1G>A
NM_000628.5(IL10RB):c.49+2T>G rs2123556583
NM_000631.5(NCF4):c.270_271+16del rs1939893821
NM_000732.6(CD3D):c.274+2T>C
NM_000732.6(CD3D):c.406+1G>T
NM_000732.6(CD3D):c.407-1G>A rs2134058885
NM_000733.4(CD3E):c.103+1G>A rs201543770
NM_000733.4(CD3E):c.103+1G>T rs201543770
NM_000733.4(CD3E):c.353-1G>A
NM_000733.4(CD3E):c.520+1G>A
NM_000733.4(CD3E):c.520+2T>C rs483352928
NM_000760.4(CSF3R):c.1577-1G>A
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_000760.4(CSF3R):c.65-1G>A
NM_000760.4(CSF3R):c.65-2A>C
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) rs606231473
NM_000760.4(CSF3R):c.998-1G>A rs1248511242
NM_000760.4(CSF3R):c.998-2A>T rs879253750
NM_001006658.3(CR2):c.2240+1G>A
NM_001006658.3(CR2):c.2716+2T>C rs2102307813
NM_001006658.3(CR2):c.3089-1G>A rs1365226221
NM_001006658.3(CR2):c.3188+2del rs1658562210
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg) rs879254329
NM_001018115.3(FANCD2):c.1098+2T>A
NM_001018115.3(FANCD2):c.1134+1G>A
NM_001018115.3(FANCD2):c.1413+2T>C rs1459222478
NM_001018115.3(FANCD2):c.1546-1G>A
NM_001018115.3(FANCD2):c.1656+1G>A
NM_001018115.3(FANCD2):c.1766+1G>A
NM_001018115.3(FANCD2):c.1947+1G>A
NM_001018115.3(FANCD2):c.205+1G>A rs2124970985
NM_001018115.3(FANCD2):c.2168_2168+1delinsT rs2087674573
NM_001018115.3(FANCD2):c.2169-1G>C rs141783465
NM_001018115.3(FANCD2):c.2269+1G>A
NM_001018115.3(FANCD2):c.2270-1G>C
NM_001018115.3(FANCD2):c.2495-2A>G
NM_001018115.3(FANCD2):c.3224+1G>C
NM_001018115.3(FANCD2):c.3224+1G>T rs1468320596
NM_001018115.3(FANCD2):c.3467-2A>G
NM_001018115.3(FANCD2):c.3560+1G>A
NM_001018115.3(FANCD2):c.3561-1del rs2125077559
NM_001018115.3(FANCD2):c.3749_3777+789del rs2125081509
NM_001018115.3(FANCD2):c.3849+1G>A
NM_001018115.3(FANCD2):c.3849+1G>T
NM_001018115.3(FANCD2):c.3889-1G>A
NM_001018115.3(FANCD2):c.3963_3963+1inv
NM_001018115.3(FANCD2):c.4038+2T>G
NM_001018115.3(FANCD2):c.4039-2A>G
NM_001018115.3(FANCD2):c.571-2A>G
NM_001018115.3(FANCD2):c.64+1_64+2del rs777719596
NM_001018115.3(FANCD2):c.64+2T>G rs2124961184
NM_001018115.3(FANCD2):c.65-1G>T
NM_001018115.3(FANCD2):c.694_695+14del
NM_001018115.3(FANCD2):c.695+1G>A
NM_001018115.3(FANCD2):c.695+2T>A
NM_001018115.3(FANCD2):c.888+1G>A
NM_001018115.3(FANCD2):c.889-2A>G
NM_001025603.2(RFX5):c.1706dup (p.Ser571fs) rs763938154
NM_001025603.2(RFX5):c.473+2T>C
NM_001025603.2(RFX5):c.474-2A>G rs2102065180
NM_001025603.2(RFX5):c.556-2A>G rs1571260171
NM_001025603.2(RFX5):c.757+1G>A
NM_001033855.3(DCLRE1C):c.162-2A>C
NM_001033855.3(DCLRE1C):c.211A>C (p.Thr71Pro)
NM_001033855.3(DCLRE1C):c.247-2A>G rs2131027694
NM_001033855.3(DCLRE1C):c.306+2T>A rs2131026813
NM_001033855.3(DCLRE1C):c.306+2T>C
NM_001033855.3(DCLRE1C):c.335C>T (p.Pro112Leu)
NM_001033855.3(DCLRE1C):c.363-2A>G rs2130956855
NM_001033855.3(DCLRE1C):c.426_464+123del
NM_001033855.3(DCLRE1C):c.465-1G>A
NM_001033855.3(DCLRE1C):c.465-1G>C rs2130944445
NM_001033855.3(DCLRE1C):c.465-2A>C rs1839625956
NM_001033855.3(DCLRE1C):c.465-2A>G
NM_001033855.3(DCLRE1C):c.492_504delinsAGATACTATGTTG (p.Thr167_Phe168delinsMetLeu) rs1589064324
NM_001033855.3(DCLRE1C):c.537+1G>T
NM_001033855.3(DCLRE1C):c.538-1G>C
NM_001033855.3(DCLRE1C):c.678+2T>G
NM_001033855.3(DCLRE1C):c.679-1G>T rs2130918080
NM_001033855.3(DCLRE1C):c.780+1G>C rs1839255008
NM_001033855.3(DCLRE1C):c.781-1G>A
NM_001033855.3(DCLRE1C):c.917+1G>A rs1564418254
NM_001033855.3(DCLRE1C):c.939_972+715del
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001065.4(TNFRSF1A):c.172T>G (p.Cys58Gly) rs2136823066
NM_001065.4(TNFRSF1A):c.215G>A (p.Cys72Tyr) rs104895252
NM_001065.4(TNFRSF1A):c.241T>C (p.Cys81Arg) rs104895232
NM_001065.4(TNFRSF1A):c.251G>A (p.Cys84Tyr) rs104895224
NM_001065.4(TNFRSF1A):c.305G>T (p.Cys102Phe) rs1555108112
NM_001065.4(TNFRSF1A):c.349T>G (p.Cys117Gly)
NM_001083116.3(PRF1):c.134G>A (p.Gly45Glu)
NM_001083116.3(PRF1):c.147C>A (p.Asp49Glu) rs761310644
NM_001083116.3(PRF1):c.1610_1611del (p.Tyr537fs)
NM_001083116.3(PRF1):c.208G>T (p.Asp70Tyr)
NM_001083116.3(PRF1):c.577T>C (p.Phe193Leu)
NM_001083116.3(PRF1):c.694C>T (p.Arg232Cys)
NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)
NM_001111.5(ADAR):c.1602-2A>G
NM_001111.5(ADAR):c.1786-1G>C
NM_001111.5(ADAR):c.2763-1G>A
NM_001111.5(ADAR):c.2886-1del rs1696896431
NM_001113378.2(FANCI):c.1113-1G>A rs2151485792
NM_001113378.2(FANCI):c.1293+1G>A rs768310043
NM_001113378.2(FANCI):c.1293+2T>G
NM_001113378.2(FANCI):c.1381+1G>T
NM_001113378.2(FANCI):c.1512+1G>A rs2151551135
NM_001113378.2(FANCI):c.157+1G>A
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001113378.2(FANCI):c.1584-1G>C
NM_001113378.2(FANCI):c.1698+1G>A
NM_001113378.2(FANCI):c.2169+1G>A
NM_001113378.2(FANCI):c.2169+2T>C
NM_001113378.2(FANCI):c.2291+1G>A
NM_001113378.2(FANCI):c.2291+2T>A rs1400441798
NM_001113378.2(FANCI):c.2292-1G>T
NM_001113378.2(FANCI):c.2456+1G>A
NM_001113378.2(FANCI):c.2457-2A>G rs2054196709
NM_001113378.2(FANCI):c.2637-1G>C
NM_001113378.2(FANCI):c.2804-1G>C rs2054480330
NM_001113378.2(FANCI):c.2804-2A>T
NM_001113378.2(FANCI):c.2889+2T>C
NM_001113378.2(FANCI):c.3006+1G>A
NM_001113378.2(FANCI):c.3007-1G>A
NM_001113378.2(FANCI):c.3007-1G>C
NM_001113378.2(FANCI):c.3058+1G>C
NM_001113378.2(FANCI):c.3187-2A>G
NM_001113378.2(FANCI):c.3255+1G>C rs779079622
NM_001113378.2(FANCI):c.3538-2A>T rs1407605188
NM_001113378.2(FANCI):c.3652-1G>T
NM_001113378.2(FANCI):c.3924+1G>A rs864622739
NM_001113378.2(FANCI):c.446-2A>G
NM_001113378.2(FANCI):c.504-2A>G
NM_001113378.2(FANCI):c.542_545+57del
NM_001113378.2(FANCI):c.84+2_84+3del
NM_001113378.2(FANCI):c.85-1G>A
NM_001113378.2(FANCI):c.85-1G>T
NM_001113378.2(FANCI):c.85-2A>G
NM_001113378.2(FANCI):c.879_882+14del
NM_001113378.2(FANCI):c.882+2T>A rs2053066295
NM_001113378.2(FANCI):c.882+2T>C
NM_001113378.2(FANCI):c.976-1G>T
NM_001127198.5(TMC6):c.1383+1G>A rs2074414994
NM_001127198.5(TMC6):c.1811+1G>A rs1567989416
NM_001127198.5(TMC6):c.892-2A>G rs769471844
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg) rs193302884
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg) rs193302885
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu) rs2134640168
NM_001164277.2(SLC37A4):c.382-1G>T
NM_001164277.2(SLC37A4):c.382-2A>G
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.785+2T>G rs1592111559
NM_001164277.2(SLC37A4):c.786-1G>A rs1943578039
NM_001164277.2(SLC37A4):c.786-2A>C
NM_001164277.2(SLC37A4):c.786-2A>G rs2134633880
NM_001164277.2(SLC37A4):c.871+1G>A
NM_001164277.2(SLC37A4):c.872-1G>A
NM_001164277.2(SLC37A4):c.872-8_881del
NM_001164277.2(SLC37A4):c.985+1G>A rs1943553565
NM_001164277.2(SLC37A4):c.986-1G>A
NM_001167.4(XIAP):c.1099+2T>C rs2148097889
NM_001167.4(XIAP):c.1317_1318delinsAT (p.Gln440Ter) rs2148112156
NM_001243133.2(NLRP3):c.1000A>G (p.Ile334Val) rs1662713003
NM_001243133.2(NLRP3):c.1054G>A (p.Ala352Thr) rs180177503
NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val) rs121908149
NM_001243133.2(NLRP3):c.1218G>A (p.Met406Ile) rs180177486
NM_001243133.2(NLRP3):c.1573G>A (p.Glu525Lys) rs180177458
NM_001243133.2(NLRP3):c.1700A>C (p.Glu567Ala) rs2103112233
NM_001243133.2(NLRP3):c.1706G>A (p.Gly569Glu)
NM_001243133.2(NLRP3):c.1976T>G (p.Met659Arg) rs180177457
NM_001243133.2(NLRP3):c.2264G>C (p.Gly755Ala) rs180177473
NM_001243133.2(NLRP3):c.515T>C (p.Ile172Thr) rs180177449
NM_001290043.2(TAP2):c.1635+1G>C
NM_001290043.2(TAP2):c.494-2A>G rs2127367115
NM_001322934.2(NFKB2):c.2576_2580del (p.Thr859fs) rs1565214594
NM_001322934.2(NFKB2):c.2595_2596del (p.Asp865fs) rs2061278560
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.2259-2A>G rs2127004616
NM_001364905.1(LRBA):c.2449+1G>A
NM_001364905.1(LRBA):c.2767-2A>G rs1350061017
NM_001364905.1(LRBA):c.4159-1G>T rs1750245794
NM_001364905.1(LRBA):c.476_549+580del
NM_001364905.1(LRBA):c.5518+2T>C rs532289025
NM_001364905.1(LRBA):c.5519-1G>A rs1302362911
NM_001364905.1(LRBA):c.5755-1G>C
NM_001364905.1(LRBA):c.6194-2A>G
NM_001364905.1(LRBA):c.6551+1G>T
NM_001364905.1(LRBA):c.7363-1G>T
NM_001366385.1(CARD14):c.356T>C (p.Met119Thr) rs1598639584
NM_001366385.1(CARD14):c.371T>C (p.Leu124Pro) rs1598639617
NM_001366385.1(CARD14):c.409GAG[1] (p.Glu138del) rs1390003312
NM_001367916.1(MAGT1):c.399del (p.Met133fs) rs1603361811
NM_001367916.1(MAGT1):c.673-1G>A rs2149017840
NM_001367916.1(MAGT1):c.762+1G>A
NM_001367916.1(MAGT1):c.827-1_838del rs1603359848
NM_001369369.1(FOXN1):c.1135+1_1135+2delinsAG rs1064795660
NM_001369369.1(FOXN1):c.1465del (p.Gln489fs) rs1169577591
NM_001369369.1(FOXN1):c.699+1G>T rs1555609768
NM_001369369.1(FOXN1):c.928-2A>G rs2151497815
NM_001375808.2(LPIN2):c.1451_1456+6del rs2077209051
NM_001375808.2(LPIN2):c.1938+1G>A
NM_001375808.2(LPIN2):c.2086_2087+39del rs1598522408
NM_001375808.2(LPIN2):c.2443-2A>G rs2144112758
NM_001375808.2(LPIN2):c.288+2T>G rs2143137428
NM_001375808.2(LPIN2):c.289-1G>T
NM_001375808.2(LPIN2):c.698+1G>A rs1449758984
NM_001375808.2(LPIN2):c.699-1G>T
NM_001375808.2(LPIN2):c.699-2A>G
NM_001375808.2(LPIN2):c.822+2T>G rs2144204081
NM_001379200.1(TBX1):c.711+1G>A rs1731409120
NM_001382567.1(STIM1):c.1568-1G>T
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr) rs748277951
NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly) rs2135736648
NM_001382567.1(STIM1):c.270+2T>C
NM_001382567.1(STIM1):c.386-1G>A rs2133083597
NM_001382567.1(STIM1):c.792-1G>A
NM_001556.3(IKBKB):c.1365-2A>C
NM_001625.4(AK2):c.524G>C (p.Arg175Pro) rs1243124080
NM_001625.4(AK2):c.614_615del (p.Gly205fs) rs746465070
NM_001783.4(CD79A):c.379+1G>A rs1555843601
NM_001783.4(CD79A):c.499-1G>A
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.173-2A>C
NM_001814.6(CTSC):c.485+1G>A
NM_001814.6(CTSC):c.486-25_492del
NM_001814.6(CTSC):c.641+1G>A
NM_001814.6(CTSC):c.642-2A>G
NM_001814.6(CTSC):c.757+1G>T
NM_001814.6(CTSC):c.855dup (p.Gln286fs)
NM_001814.6(CTSC):c.910T>A (p.Tyr304Asn)
NM_001972.4(ELANE):c.127T>C (p.Phe43Leu)
NM_001972.4(ELANE):c.136T>C (p.Ser46Pro) rs2035616857
NM_001972.4(ELANE):c.169G>A (p.Ala57Thr) rs2145144144
NM_001972.4(ELANE):c.197T>G (p.Met66Arg)
NM_001972.4(ELANE):c.362T>G (p.Leu121Arg)
NM_001972.4(ELANE):c.367-1G>A
NM_001972.4(ELANE):c.570G>A (p.Val190=)
NM_001972.4(ELANE):c.581_597dup (p.Gly200fs)
NM_001972.4(ELANE):c.602del (p.Asp201fs) rs2035673569
NM_001972.4(ELANE):c.607G>A (p.Gly203Ser)
NM_001972.4(ELANE):c.622T>G (p.Cys208Gly) rs2145149526
NM_001972.4(ELANE):c.661G>T (p.Gly221Ter) rs2035675760
NM_002185.5(IL7R):c.135G>C (p.Gln45His) rs200464578
NM_002185.5(IL7R):c.644G>T (p.Gly215Val) rs193922645
NM_002351.5(SH2D1A):c.197_201+9del rs2060052777
NM_002351.5(SH2D1A):c.201+2T>C rs2147531379
NM_002435.3(MPI):c.1001_1004del (p.Tyr334fs) rs2141208628
NM_002435.3(MPI):c.144+1G>A
NM_002435.3(MPI):c.144+2T>C
NM_002435.3(MPI):c.15_16+5del rs2141194911
NM_002435.3(MPI):c.16+1G>A
NM_002435.3(MPI):c.844+1G>A rs1394866894
NM_002435.3(MPI):c.844+2T>G rs2141206921
NM_002435.3(MPI):c.845-2A>G rs2064828055
NM_002435.3(MPI):c.845-2del rs1555479341
NM_002468.5(MYD88):c.154GAG[1] (p.Glu53del) rs878852993
NM_002468.5(MYD88):c.463+1G>A rs2125777824
NM_002661.5(PLCG2):c.3420T>A (p.Asp1140Glu)
NM_002838.5(PTPRC):c.1864+2T>A rs2102475830
NM_002838.5(PTPRC):c.1864+2T>C
NM_002838.5(PTPRC):c.2403+1G>A rs1553243550
NM_002838.5(PTPRC):c.2403+1G>T
NM_002838.5(PTPRC):c.2561+2T>C
NM_002838.5(PTPRC):c.3207+2T>A
NM_002838.5(PTPRC):c.3208-1G>C
NM_002838.5(PTPRC):c.3330+2T>C
NM_002838.5(PTPRC):c.583+1G>T
NM_002838.5(PTPRC):c.659-2A>G
NM_002838.5(PTPRC):c.686-1G>T
NM_002838.5(PTPRC):c.73+1G>A
NM_002838.5(PTPRC):c.905-2A>G rs2102415377
NM_002872.5(RAC2):c.181C>A (p.Gln61Lys)
NM_003183.6(ADAM17):c.1344+1G>T
NM_003183.6(ADAM17):c.1544+2T>C
NM_003183.6(ADAM17):c.361+1G>C
NM_003331.5(TYK2):c.1011+2T>G
NM_003331.5(TYK2):c.1773+1G>T rs777488795
NM_003331.5(TYK2):c.2311+1G>T
NM_003331.5(TYK2):c.629+2T>C
NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs) rs730880320
NM_003664.5(AP3B1):c.129-1G>A
NM_003664.5(AP3B1):c.1364-2A>G rs2112357253
NM_003664.5(AP3B1):c.1651-1G>A
NM_003664.5(AP3B1):c.1837+2T>C rs2112300864
NM_003664.5(AP3B1):c.786+1G>A
NM_003721.4(RFXANK):c.188-2del rs2146483253
NM_003721.4(RFXANK):c.337+2_337+3del rs1568579235
NM_003721.4(RFXANK):c.419_438+38del rs1568579997
NM_003954.5(MAP3K14):c.916del (p.Cys306fs) rs2143820144
NM_004364.5(CEBPA):c.890G>C (p.Arg297Pro) rs1600021258
NM_004629.2(FANCG):c.1379G>A (p.Gly460Asp)
NM_004629.2(FANCG):c.1433+1G>A rs1829065047
NM_004629.2(FANCG):c.1434-1G>C
NM_004629.2(FANCG):c.1434-2A>C rs1829062071
NM_004629.2(FANCG):c.1481-1G>C rs2131053141
NM_004629.2(FANCG):c.1636+1_1636+5delinsA rs1829054259
NM_004629.2(FANCG):c.1637-1G>A
NM_004629.2(FANCG):c.1637-2A>G
NM_004629.2(FANCG):c.1637-2_1637-1insCTG rs2131051989
NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter) rs786204205
NM_004629.2(FANCG):c.176-1G>A rs2131059176
NM_004629.2(FANCG):c.308-1G>A
NM_004629.2(FANCG):c.511-3_511-2del rs1491369358
NM_004629.2(FANCG):c.646+1G>T rs1028569753
NM_004629.2(FANCG):c.647-2_649del rs2131056701
NM_004629.2(FANCG):c.777+1G>A rs1060501862
NM_004629.2(FANCG):c.778-1G>A rs767518932
NM_004629.2(FANCG):c.778-1G>C rs767518932
NM_004629.2(FANCG):c.84+1G>A
NM_004629.2(FANCG):c.85-1G>A rs1052044702
NM_004629.2(FANCG):c.924+1G>A rs1829091761
NM_004629.2(FANCG):c.925-1G>C
NM_004629.2(FANCG):c.925-1G>T
NM_004946.3(DOCK2):c.1055+1G>A
NM_004946.3(DOCK2):c.1843+1G>T rs1761749097
NM_004946.3(DOCK2):c.321+1G>A rs1561585424
NM_004946.3(DOCK2):c.3381+2T>C rs1581531492
NM_004946.3(DOCK2):c.3756+2T>C rs1035797449
NM_004946.3(DOCK2):c.4072-1G>C
NM_004946.3(DOCK2):c.4213+1G>A rs1561898523
NM_004946.3(DOCK2):c.5288-1G>T
NM_004946.3(DOCK2):c.606+2T>G
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys) rs28730670
NM_005026.5(PIK3CD):c.371G>A (p.Gly124Asp)
NM_005045.4(RELN):c.2002+1G>A
NM_005045.4(RELN):c.2303+1G>A rs2117350995
NM_005045.4(RELN):c.2303+2T>G
NM_005045.4(RELN):c.2465+2T>G
NM_005045.4(RELN):c.473+1G>A
NM_005045.4(RELN):c.4936+1G>T
NM_005045.4(RELN):c.5615-2A>G rs2117168257
NM_005045.4(RELN):c.6068_6072+20del
NM_005045.4(RELN):c.7180+1G>T rs2117126444
NM_005045.4(RELN):c.805+1G>T
NM_005045.4(RELN):c.8843+2T>C
NM_005214.5(CTLA4):c.109+1G>A rs606231421
NM_005214.5(CTLA4):c.109+1G>T rs606231421
NM_005214.5(CTLA4):c.110-1G>A
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) rs1553657378
NM_005214.5(CTLA4):c.416A>C (p.Tyr139Ser) rs1581573923
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.3(ERCC4):c.580_584+1del rs776329282
NM_005356.5(LCK):c.481+2T>G
NM_005373.3(MPL):c.1165+1G>C rs775550081
NM_005373.3(MPL):c.1166-1G>C rs2153918730
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)
NM_005373.3(MPL):c.1308+2T>G
NM_005373.3(MPL):c.1468+1G>A
NM_005373.3(MPL):c.1468+2T>C rs1057517761
NM_005373.3(MPL):c.1469-1G>T rs771729218
NM_005373.3(MPL):c.1469-2A>T
NM_005373.3(MPL):c.212+1G>A rs142565191
NM_005373.3(MPL):c.213-1G>A
NM_005373.3(MPL):c.305G>A (p.Arg102His) rs28928907
NM_005373.3(MPL):c.407C>A (p.Pro136His) rs764904424
NM_005373.3(MPL):c.690+2T>A rs2153916885
NM_005373.3(MPL):c.690+2T>C
NM_005373.3(MPL):c.79+1G>A
NM_005373.3(MPL):c.79+1G>T rs1647004958
NM_005373.3(MPL):c.854-1G>A
NM_005373.3(MPL):c.980+2T>A rs1647023010
NM_005419.4(STAT2):c.131+1G>A
NM_005419.4(STAT2):c.1577-1G>A rs2136052278
NM_005419.4(STAT2):c.1630-2A>G
NM_005534.4(IFNGR2):c.1A>C (p.Met1Leu) rs1316638883
NM_005546.4(ITK):c.139-2A>G
NM_006118.4(HAX1):c.504+1G>A rs2149140065
NM_006118.4(HAX1):c.54-2A>T rs764765550
NM_006118.4(HAX1):c.556+1G>A
NM_006118.4(HAX1):c.556+1G>C rs1684901295
NM_006118.4(HAX1):c.557-1G>A
NM_006118.4(HAX1):c.557-1G>C rs1684904805
NM_006118.4(HAX1):c.664-1G>T rs2149140690
NM_006254.4(PRKCD):c.1743+2T>A
NM_006254.4(PRKCD):c.571+1G>A
NM_006254.4(PRKCD):c.788-1G>T
NM_006282.5(STK4):c.36-1G>A
NM_006282.5(STK4):c.961-2A>G
NM_006397.3(RNASEH2A):c.127+1G>C
NM_006397.3(RNASEH2A):c.199+1G>C
NM_006397.3(RNASEH2A):c.200-1G>T
NM_006397.3(RNASEH2A):c.323+1G>A rs1388246689
NM_006397.3(RNASEH2A):c.549+1G>A
NM_006397.3(RNASEH2A):c.638-2A>G rs2145830162
NM_006432.5(NPC2):c.190+1G>C
NM_006432.5(NPC2):c.191-1G>A
NM_006432.5(NPC2):c.191-1_193del rs1555345873
NM_006432.5(NPC2):c.364-2A>G rs777654308
NM_006785.4(MALT1):c.1475+1G>A rs888212988
NM_006785.4(MALT1):c.1911+1G>T
NM_006785.4(MALT1):c.986-1G>C rs2144403413
NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)
NM_006912.6(RIT1):c.113C>G (p.Thr38Ser) rs2102590960
NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)
NM_006912.6(RIT1):c.91G>C (p.Gly31Arg) rs1571999498
NM_006939.4(SOS2):c.1127C>T (p.Thr376Ile)
NM_006949.4(STXBP2):c.1026+1G>T
NM_006949.4(STXBP2):c.1026+2T>A
NM_006949.4(STXBP2):c.1107+1G>C
NM_006949.4(STXBP2):c.1108-1G>A
NM_006949.4(STXBP2):c.1356+1G>T
NM_006949.4(STXBP2):c.1452+1G>A
NM_006949.4(STXBP2):c.1539-2A>G
NM_006949.4(STXBP2):c.169+2T>G rs1555768979
NM_006949.4(STXBP2):c.246+1G>T
NM_006949.4(STXBP2):c.247-1G>T
NM_006949.4(STXBP2):c.247-2A>C rs921624651
NM_006949.4(STXBP2):c.247-2A>G
NM_006949.4(STXBP2):c.247-2_284del
NM_006949.4(STXBP2):c.326-1G>C rs2031844309
NM_006949.4(STXBP2):c.37+596_82delinsCAGCTCTGAGGCATGCCTAGCTGAGGCTATCCCACTGACCTCCGGTCTCAGTTTCCTCATCTGTAAAATGGAATCACTTTTTTCTAATCTCCCCCAATTAAAGGGGTTTGAGCTACAGACCGCCCTGCCTAGAGGAGAGAGTGGAGAGAAGTAACGGGGTGGCCCCGCCCAGCCACGTCCACTGTGTCATGTCCACTGTTATCAAGACGGCCAG
NM_006949.4(STXBP2):c.429+1G>C
NM_006949.4(STXBP2):c.87+1G>A
NM_006949.4(STXBP2):c.87+2T>C
NM_006949.4(STXBP2):c.902+1G>A
NM_006949.4(STXBP2):c.960+1G>T
NM_007074.4(CORO1A):c.1007+1G>A rs2151063274
NM_007074.4(CORO1A):c.1065+2T>C rs112728974
NM_007074.4(CORO1A):c.35G>T (p.Arg12Leu)
NM_007074.4(CORO1A):c.756_756+1del
NM_007315.4(STAT1):c.1127+1G>A
NM_007315.4(STAT1):c.1128-1G>A
NM_007315.4(STAT1):c.1166T>G (p.Val389Gly) rs1692876152
NM_007315.4(STAT1):c.1198C>G (p.Leu400Val)
NM_007315.4(STAT1):c.1632+1G>A
NM_007315.4(STAT1):c.2102A>G (p.Tyr701Cys) rs2124996723
NM_007315.4(STAT1):c.2135+2T>A rs2124996603
NM_007315.4(STAT1):c.511G>A (p.Asp171Asn) rs2125075054
NM_007315.4(STAT1):c.516C>G (p.Phe172Leu)
NM_007315.4(STAT1):c.820C>G (p.Arg274Gly) rs387906758
NM_007315.4(STAT1):c.851A>G (p.Glu284Gly) rs1693752801
NM_007315.4(STAT1):c.856A>C (p.Lys286Gln) rs1693752377
NM_007315.4(STAT1):c.865T>C (p.Tyr289His)
NM_007315.4(STAT1):c.876C>A (p.Asp292Glu) rs1085307649
NM_007315.4(STAT1):c.970T>C (p.Cys324Arg) rs1574653439
NM_007315.4(STAT1):c.974T>A (p.Met325Lys)
NM_012092.4(ICOS):c.394+2T>C rs1559035937
NM_012092.4(ICOS):c.58+1G>A rs757598952
NM_012275.3(IL36RN):c.30-1G>T
NM_012275.3(IL36RN):c.30-2A>G
NM_012388.4(BLOC1S6):c.312+1G>T
NM_012388.4(BLOC1S6):c.313-1G>A
NM_012388.4(BLOC1S6):c.82+1G>A
NM_012388.4(BLOC1S6):c.82+1G>T
NM_012388.4(BLOC1S6):c.82+1_82+8del
NM_012448.4(STAT5B):c.1681-2A>G
NM_012448.4(STAT5B):c.1906+1G>A rs750399917
NM_013314.4(BLNK):c.113+2T>G rs2134092983
NM_013314.4(BLNK):c.747-2A>G
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014009.4(FOXP3):c.1151C>T (p.Ala384Val) rs2147944159
NM_014009.4(FOXP3):c.1270_1272delinsC (p.Cys424fs) rs1569529565
NM_014009.4(FOXP3):c.315+2T>A rs2147949090
NM_014009.4(FOXP3):c.454+4A>G rs2147948858
NM_014140.4(SMARCAL1):c.1146_1147+2del rs1574450161
NM_014140.4(SMARCAL1):c.1147+1G>A
NM_014140.4(SMARCAL1):c.1147+2T>G
NM_014140.4(SMARCAL1):c.1334+1G>A
NM_014140.4(SMARCAL1):c.1402G>C (p.Ala468Pro) rs1693994454
NM_014140.4(SMARCAL1):c.1485+1G>A rs772028268
NM_014140.4(SMARCAL1):c.1644+1G>T rs1694062061
NM_014140.4(SMARCAL1):c.1645-2A>G rs2106040403
NM_014140.4(SMARCAL1):c.1645-2A>T
NM_014140.4(SMARCAL1):c.1710+2T>C
NM_014140.4(SMARCAL1):c.1711-2A>C
NM_014140.4(SMARCAL1):c.1851+1G>A
NM_014140.4(SMARCAL1):c.2141+1G>A rs1694789584
NM_014140.4(SMARCAL1):c.2244+1G>A
NM_014140.4(SMARCAL1):c.2427+1G>A rs1559138455
NM_014140.4(SMARCAL1):c.812-2A>G
NM_014339.7(IL17RA):c.163+2T>C rs2123797291
NM_014339.7(IL17RA):c.598+1G>T rs759315432
NM_015474.4(SAMHD1):c.1271-1G>C
NM_015474.4(SAMHD1):c.1271-2A>C
NM_015474.4(SAMHD1):c.1410+1G>A
NM_015474.4(SAMHD1):c.1608+1G>A rs373731440
NM_015474.4(SAMHD1):c.1608G>A (p.Gln536=) rs1990238054
NM_015474.4(SAMHD1):c.1609-2A>G rs1700306908
NM_015474.4(SAMHD1):c.349-1G>A rs1251155562
NM_015474.4(SAMHD1):c.349-2A>T rs2146137671
NM_015474.4(SAMHD1):c.625+1G>A rs1601141002
NM_015474.4(SAMHD1):c.626-1G>C rs2146127849
NM_015474.4(SAMHD1):c.696+2T>C
NM_015474.4(SAMHD1):c.697-1G>T rs2146119643
NM_015474.4(SAMHD1):c.697-2A>G
NM_015474.4(SAMHD1):c.852+1G>A
NM_015474.4(SAMHD1):c.852+1G>T rs780504624
NM_015474.4(SAMHD1):c.853-1G>C
NM_015474.4(SAMHD1):c.953+1G>A rs2146117027
NM_015599.3(PGM3):c.-2-171T>A
NM_015599.3(PGM3):c.1128+1G>A
NM_015599.3(PGM3):c.787+3A>G
NM_015599.3(PGM3):c.788-2A>G rs1788056577
NM_016123.4(IRAK4):c.717-1G>T rs1555169270
NM_017890.5(VPS13B):c.4158-2A>G rs2133626470
NM_018062.4(FANCL):c.1021-2A>G
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
NM_018062.4(FANCL):c.1048C>T (p.Gln350Ter)
NM_018062.4(FANCL):c.1049dup (p.Ser351fs)
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)
NM_018062.4(FANCL):c.1092+1_1092+5del rs1558727300
NM_018062.4(FANCL):c.217-2A>G
NM_018062.4(FANCL):c.273+1G>A rs144729980
NM_018062.4(FANCL):c.471+1G>A
NM_018062.4(FANCL):c.471+2T>C
NM_018062.4(FANCL):c.541-2A>C
NM_018062.4(FANCL):c.775+2T>C
NM_018062.4(FANCL):c.821+1G>A
NM_018062.4(FANCL):c.903+1G>T
NM_018062.4(FANCL):c.903+1_903+2del
NM_018062.4(FANCL):c.903+1del
NM_018062.4(FANCL):c.904-1G>A rs2104783888
NM_018062.4(FANCL):c.96+2T>A
NM_018062.4(FANCL):c.96+2T>C
NM_018344.6(SLC29A3):c.1+2T>G
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys) rs28939087
NM_020661.4(AICDA):c.293T>G (p.Leu98Arg)
NM_020661.4(AICDA):c.427+1G>A
NM_020661.4(AICDA):c.8+1G>C
NM_020937.4(FANCM):c.1051-2A>T rs1886997142
NM_020937.4(FANCM):c.1397-1_1407del
NM_020937.4(FANCM):c.1581+1G>A rs373430198
NM_020937.4(FANCM):c.2316+2T>A rs2139235421
NM_020937.4(FANCM):c.4318-2A>G
NM_020937.4(FANCM):c.4386+1G>A rs1889085249
NM_020937.4(FANCM):c.4673-1G>A
NM_020937.4(FANCM):c.4673-2A>C rs2139291763
NM_020937.4(FANCM):c.4780-2A>G rs1889569618
NM_020937.4(FANCM):c.5340+2T>C
NM_020937.4(FANCM):c.682-2A>G rs1885847871
NM_020937.4(FANCM):c.759+2T>C rs902753970
NM_020964.3(EPG5):c.1389+2T>G
NM_020964.3(EPG5):c.1497+1G>T rs886043244
NM_020964.3(EPG5):c.2695_2718+32del
NM_020964.3(EPG5):c.2719-1G>C
NM_020964.3(EPG5):c.2839-1G>T
NM_020964.3(EPG5):c.3098+2T>C rs1599578081
NM_020964.3(EPG5):c.3693+2_3693+5del rs2050008898
NM_020964.3(EPG5):c.3817-2A>G
NM_020964.3(EPG5):c.4184_4205+5del
NM_020964.3(EPG5):c.4475-1G>A
NM_020964.3(EPG5):c.4475-2A>C
NM_020964.3(EPG5):c.4809+1G>A
NM_020964.3(EPG5):c.4952+1G>A rs2049301523
NM_020964.3(EPG5):c.5110-2A>G
NM_020964.3(EPG5):c.5943-2A>G
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020964.3(EPG5):c.6049+2T>C
NM_020964.3(EPG5):c.6049+5G>A rs2048968935
NM_020964.3(EPG5):c.6225+2T>C
NM_020964.3(EPG5):c.63+1G>T
NM_021922.3(FANCE):c.1113+1G>A rs2150895088
NM_021922.3(FANCE):c.1237+1G>A
NM_021922.3(FANCE):c.248+1G>A rs1480350743
NM_021922.3(FANCE):c.304_855+155delinsGGACTCCCAGGGAG rs2150889955
NM_022051.3(EGLN1):c.1192C>T (p.Arg398Ter)
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro) rs923064561
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg) rs75325951
NM_024570.4(RNASEH2B):c.245-2A>C
NM_024570.4(RNASEH2B):c.245-2A>G
NM_024570.4(RNASEH2B):c.322-2A>T
NM_024570.4(RNASEH2B):c.322-3C>G
NM_024570.4(RNASEH2B):c.436+1G>A rs80087649
NM_024570.4(RNASEH2B):c.510+1del rs1593470515
NM_024570.4(RNASEH2B):c.511-1G>A
NM_024570.4(RNASEH2B):c.617-2A>G
NM_024570.4(RNASEH2B):c.65-1G>A
NM_024570.4(RNASEH2B):c.698+1G>C
NM_024570.4(RNASEH2B):c.742-1_742delinsAC
NM_024782.3(NHEJ1):c.177+1G>A
NM_024782.3(NHEJ1):c.178-1G>A rs1949868667
NM_024782.3(NHEJ1):c.390+1G>A
NM_024782.3(NHEJ1):c.529+1G>A rs146783338
NM_024782.3(NHEJ1):c.530-1G>A rs1481152382
NM_024782.3(NHEJ1):c.589-2A>G rs753495484
NM_031471.6(FERMT3):c.1671-4_1671del
NM_031471.6(FERMT3):c.684-1G>A
NM_031471.6(FERMT3):c.786+1G>T
NM_032043.2(BRIP1):c.2493-?_2575+?dup
NM_032043.2(BRIP1):c.919-?_1140+?del
NM_032043.3(BRIP1):c.1140+1G>A rs1555607628
NM_032043.3(BRIP1):c.1141-2A>C
NM_032043.3(BRIP1):c.1141-2A>T rs769583916
NM_032043.3(BRIP1):c.1340+1G>A rs1555607022
NM_032043.3(BRIP1):c.1340+2_1340+5del rs2077945546
NM_032043.3(BRIP1):c.1340+5G>C rs869312791
NM_032043.3(BRIP1):c.1341-2A>C
NM_032043.3(BRIP1):c.1473+1G>A rs748274524
NM_032043.3(BRIP1):c.1473+1G>C rs748274524
NM_032043.3(BRIP1):c.1473+1G>T rs748274524
NM_032043.3(BRIP1):c.1474-2A>G rs1603337052
NM_032043.3(BRIP1):c.1628+1G>C rs1438975574
NM_032043.3(BRIP1):c.1629-17_1652del
NM_032043.3(BRIP1):c.1629-1G>A rs1060501757
NM_032043.3(BRIP1):c.1629-1G>C rs1060501757
NM_032043.3(BRIP1):c.1629-1G>T rs1060501757
NM_032043.3(BRIP1):c.1794+2T>G
NM_032043.3(BRIP1):c.1795-1G>A rs1368457771
NM_032043.3(BRIP1):c.1795-1G>C
NM_032043.3(BRIP1):c.1795-2del
NM_032043.3(BRIP1):c.1878A>C (p.Glu626Asp) rs1567812484
NM_032043.3(BRIP1):c.1878A>T (p.Glu626Asp) rs1567812484
NM_032043.3(BRIP1):c.1935+1G>A
NM_032043.3(BRIP1):c.1936-1G>A rs1555601204
NM_032043.3(BRIP1):c.1936-1G>C rs1555601204
NM_032043.3(BRIP1):c.1936-2A>G rs878855143
NM_032043.3(BRIP1):c.205+2T>G rs1060501763
NM_032043.3(BRIP1):c.205+5G>A rs2078948368
NM_032043.3(BRIP1):c.205+5G>T rs2078948368
NM_032043.3(BRIP1):c.2097+1G>C rs786202941
NM_032043.3(BRIP1):c.2097+1G>T rs786202941
NM_032043.3(BRIP1):c.2097+2T>A rs2077532634
NM_032043.3(BRIP1):c.2257+1G>A rs2077029293
NM_032043.3(BRIP1):c.2258-1G>A rs1064793887
NM_032043.3(BRIP1):c.2258-1G>C
NM_032043.3(BRIP1):c.2370_2379+20del rs2144674380
NM_032043.3(BRIP1):c.2379+1G>T rs1555590286
NM_032043.3(BRIP1):c.2380-1G>A rs1567756032
NM_032043.3(BRIP1):c.2380-2A>C rs2144384449
NM_032043.3(BRIP1):c.2380-45_2402delinsTTGACCATTTGAATGGT rs2061856480
NM_032043.3(BRIP1):c.2492+1G>C rs1567755539
NM_032043.3(BRIP1):c.2492+1G>T
NM_032043.3(BRIP1):c.2492+1del rs1603293314
NM_032043.3(BRIP1):c.2492+2T>C
NM_032043.3(BRIP1):c.2492_2492+5del rs1603293306
NM_032043.3(BRIP1):c.2493-1G>A rs786203451
NM_032043.3(BRIP1):c.2493-2A>G rs1603280621
NM_032043.3(BRIP1):c.2493-3_2493-1del
NM_032043.3(BRIP1):c.2575+1G>C
NM_032043.3(BRIP1):c.2575+1G>T rs1567737536
NM_032043.3(BRIP1):c.2575G>A (p.Gly859Arg) rs2061476512
NM_032043.3(BRIP1):c.2576-1G>A rs587782539
NM_032043.3(BRIP1):c.2576-1G>T rs587782539
NM_032043.3(BRIP1):c.2576-2A>G rs869312763
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
NM_032043.3(BRIP1):c.2905+1G>A rs876660203
NM_032043.3(BRIP1):c.2920dup (p.Leu974fs)
NM_032043.3(BRIP1):c.2968_2971del (p.Ser990fs)
NM_032043.3(BRIP1):c.2978dup (p.Asn994fs) rs2144092520
NM_032043.3(BRIP1):c.2995A>T (p.Arg999Ter)
NM_032043.3(BRIP1):c.3005G>A (p.Trp1002Ter)
NM_032043.3(BRIP1):c.3015dup (p.Asn1006Ter) rs1603275598
NM_032043.3(BRIP1):c.3022_3047del (p.Leu1008fs)
NM_032043.3(BRIP1):c.3023_3024insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGTAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGATACTAATTCTTT (p.Leu1008fs) rs2144091036
NM_032043.3(BRIP1):c.3023dup (p.Leu1008fs) rs2144091008
NM_032043.3(BRIP1):c.3028C>T (p.Gln1010Ter)
NM_032043.3(BRIP1):c.3039del (p.Gly1014fs) rs2144090521
NM_032043.3(BRIP1):c.3053del (p.Lys1018fs) rs2144090014
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs) rs1342519012
NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter) rs1603275526
NM_032043.3(BRIP1):c.3117_3118del (p.Lys1040fs)
NM_032043.3(BRIP1):c.3127del (p.Ser1043fs) rs2061318961
NM_032043.3(BRIP1):c.3136_3137del (p.Val1046fs)
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter) rs1603275438
NM_032043.3(BRIP1):c.3167del (p.Ser1055_Ser1056insTer)
NM_032043.3(BRIP1):c.3187del (p.Ser1063fs)
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs) rs748598593
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter) rs777213170
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer) rs1603275367
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter) rs786202927
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.3(BRIP1):c.3289G>T (p.Glu1097Ter) rs770509300
NM_032043.3(BRIP1):c.3310G>T (p.Glu1104Ter) rs1555572698
NM_032043.3(BRIP1):c.3324_3325insT (p.Ser1109Ter)
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter) rs1060501774
NM_032043.3(BRIP1):c.3340C>T (p.Gln1114Ter) rs1555572681
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs) rs1603275179
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs) rs1426528935
NM_032043.3(BRIP1):c.3386_3387del (p.Ser1129fs) rs2144077998
NM_032043.3(BRIP1):c.3387_3388insTT (p.Ile1130fs) rs2061309076
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) rs778664039
NM_032043.3(BRIP1):c.3396dup (p.Thr1133fs)
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032043.3(BRIP1):c.379+1G>A rs1437158047
NM_032043.3(BRIP1):c.379+1G>T rs1437158047
NM_032043.3(BRIP1):c.379+2T>C rs2145825816
NM_032043.3(BRIP1):c.380-1G>C rs2145767071
NM_032043.3(BRIP1):c.507+1G>T rs2145761239
NM_032043.3(BRIP1):c.507+2T>A
NM_032043.3(BRIP1):c.507G>A (p.Gln169=) rs876660937
NM_032043.3(BRIP1):c.508-1G>T rs864622277
NM_032043.3(BRIP1):c.508-2A>C rs876659707
NM_032043.3(BRIP1):c.508-2A>T rs876659707
NM_032043.3(BRIP1):c.627+1G>A rs587780833
NM_032043.3(BRIP1):c.627+2T>A rs2078745026
NM_032043.3(BRIP1):c.628-1G>A rs1219435870
NM_032043.3(BRIP1):c.628-2A>G rs995056553
NM_032043.3(BRIP1):c.628-2A>T rs995056553
NM_032043.3(BRIP1):c.628-2_628-1insACATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTTCTCTACATCCTCTCCAGCTTCTGTTGTTTCCTGACTGTTTAATGATCACCATTCTAACTGGTGTGAGAG
NM_032043.3(BRIP1):c.628-5_629del rs1555609402
NM_032043.3(BRIP1):c.73_93+14del rs2145863122
NM_032043.3(BRIP1):c.918+2790_1121del
NM_032043.3(BRIP1):c.919-1G>A
NM_032043.3(BRIP1):c.93+1G>A rs587782047
NM_032043.3(BRIP1):c.93+1G>T rs587782047
NM_032043.3(BRIP1):c.93+2T>C rs775755739
NM_032043.3(BRIP1):c.93+2del
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.3(BRIP1):c.94-1G>A
NM_032415.7(CARD11):c.1940+1G>T rs2115046344
NM_032415.7(CARD11):c.1941-1G>T
NM_032415.7(CARD11):c.359-1G>A
NM_032415.7(CARD11):c.7+1G>C
NM_032415.7(CARD11):c.864+1G>A rs1780191273
NM_032415.7(CARD11):c.864+1G>C
NM_032444.4(SLX4):c.1163+1G>A
NM_032444.4(SLX4):c.1684-1G>A
NM_032444.4(SLX4):c.1684-2A>C
NM_032444.4(SLX4):c.2013+2T>C
NM_032444.4(SLX4):c.2161-2A>T rs2151127331
NM_032444.4(SLX4):c.5097_5098del (p.Gln1700fs) rs1022072026
NM_032444.4(SLX4):c.5172del (p.Phe1724fs)
NM_032444.4(SLX4):c.5216_5217dup (p.Val1740fs) rs2151115927
NM_032444.4(SLX4):c.5229dup (p.Gln1744fs) rs781479923
NM_032444.4(SLX4):c.951-1G>C
NM_032638.5(GATA2):c.1021_1024dup (p.Ala342fs) rs869320770
NM_032638.5(GATA2):c.1113C>G (p.Asn371Lys) rs376003468
NM_032638.5(GATA2):c.1192C>G (p.Arg398Gly)
NM_032638.5(GATA2):c.871+1G>A
NM_032638.5(GATA2):c.872-1G>C rs2068663163
NM_032790.4(ORAI1):c.391G>A (p.Val131Met)
NM_032790.4(ORAI1):c.505dup (p.His169fs)
NM_032790.4(ORAI1):c.750dup (p.Ile251Tyrfs) rs1265366427
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) rs757478752
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) rs1553820518
NM_033629.6(TREX1):c.858dup (p.Leu287fs) rs2107265977
NM_058216.3(RAD51C):c.1000G>T (p.Glu334Ter)
NM_058216.3(RAD51C):c.1003_1004insTTCC (p.Cys335fs)
NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter) rs1555605103
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.1026+6T>A rs2144046795
NM_058216.3(RAD51C):c.1030C>T (p.Gln344Ter)
NM_058216.3(RAD51C):c.1039A>T (p.Arg347Ter) rs1555605532
NM_058216.3(RAD51C):c.1057_1066del (p.Ser353fs) rs1064792966
NM_058216.3(RAD51C):c.1072C>T (p.Gln358Ter)
NM_058216.3(RAD51C):c.1080del (p.Gly361fs)
NM_058216.3(RAD51C):c.145+2_145+7delinsCTAAG rs878855177
NM_058216.3(RAD51C):c.146-4_146-2del rs1555593450
NM_058216.3(RAD51C):c.374G>T (p.Gly125Val) rs267606998
NM_058216.3(RAD51C):c.404G>T (p.Cys135Phe) rs767796996
NM_058216.3(RAD51C):c.405-1G>A rs587782036
NM_058216.3(RAD51C):c.405-2A>G rs2048020646
NM_058216.3(RAD51C):c.571+1del rs1327086366
NM_058216.3(RAD51C):c.571+2863A>G
NM_058216.3(RAD51C):c.571+2T>A rs1567789009
NM_058216.3(RAD51C):c.571+3013_590del
NM_058216.3(RAD51C):c.571G>A (p.Glu191Lys) rs1598460983
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_058216.3(RAD51C):c.705+1G>T rs876658644
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719
NM_058216.3(RAD51C):c.837+1del rs1555599288
NM_058216.3(RAD51C):c.838-2A>G rs748589398
NM_058216.3(RAD51C):c.838-2A>T rs748589398
NM_058216.3(RAD51C):c.894dup (p.Pro299fs) rs2048893092
NM_058216.3(RAD51C):c.904+1G>A rs1555602159
NM_058216.3(RAD51C):c.904+1G>T rs1555602159
NM_058216.3(RAD51C):c.904+2T>C rs2143932427
NM_058216.3(RAD51C):c.904_904+11del
NM_058216.3(RAD51C):c.934C>G (p.Arg312Gly) rs730881932
NM_058216.3(RAD51C):c.946del (p.His316fs)
NM_058216.3(RAD51C):c.964del (p.Arg322fs) rs1555603056
NM_058216.3(RAD51C):c.965+6T>A
NM_058216.3(RAD51C):c.990del (p.Ser331fs)
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter) rs1555605074
NM_080424.4(SP110):c.1130-1G>C
NM_080424.4(SP110):c.1349-2A>T
NM_080424.4(SP110):c.1888-2A>G
NM_080647.1(TBX1):c.34+2T>A
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_138387.4(G6PC3):c.325+2T>G
NM_138387.4(G6PC3):c.325G>A (p.Gly109Ser)
NM_138387.4(G6PC3):c.416+1G>A
NM_138387.4(G6PC3):c.417-1G>A
NM_138387.4(G6PC3):c.536-2A>G
NM_139276.3(STAT3):c.1182G>A (p.Met394Ile) rs2144773624
NM_139276.3(STAT3):c.1262G>A (p.Gly421Glu)
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.2114A>G (p.Tyr705Cys)
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_147686.4(TRAF3IP2):c.1201+1G>C
NM_147686.4(TRAF3IP2):c.1201+2T>C
NM_147686.4(TRAF3IP2):c.1290+1_1290+2del
NM_148919.4(PSMB8):c.69_147+42del
NM_152468.5(TMC8):c.1521_1533+16del
NM_152468.5(TMC8):c.1534-1G>C
NM_152468.5(TMC8):c.1664+1G>A
NM_152468.5(TMC8):c.669-2A>C rs2075127396
NM_152468.5(TMC8):c.987+1G>A
NM_152468.5(TMC8):c.987+2T>A rs2145664236
NM_152564.5(VPS13B):c.10867+1G>T rs780902262
NM_152564.5(VPS13B):c.10868-2A>G
NM_152564.5(VPS13B):c.11181_11215+10del
NM_152564.5(VPS13B):c.11392+1G>T rs1554587021
NM_152564.5(VPS13B):c.11393-1G>C
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG
NM_152564.5(VPS13B):c.11495+1G>A
NM_152564.5(VPS13B):c.1303-1G>C rs1554634091
NM_152564.5(VPS13B):c.148-2A>G rs768406797
NM_152564.5(VPS13B):c.1563+1G>T rs1057516923
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_152564.5(VPS13B):c.1652-2A>T rs2132580903
NM_152564.5(VPS13B):c.1843+1G>A
NM_152564.5(VPS13B):c.2013+2341_2166del
NM_152564.5(VPS13B):c.2209-2A>G
NM_152564.5(VPS13B):c.2333+1G>T rs1812243683
NM_152564.5(VPS13B):c.2516-2A>G rs1554706114
NM_152564.5(VPS13B):c.2824+2T>G rs141703746
NM_152564.5(VPS13B):c.291+1G>A rs1057516857
NM_152564.5(VPS13B):c.291+2T>A
NM_152564.5(VPS13B):c.292-2A>G rs386834079
NM_152564.5(VPS13B):c.2934+1G>T rs775729058
NM_152564.5(VPS13B):c.2934+2T>A
NM_152564.5(VPS13B):c.2935-1G>A rs2133312466
NM_152564.5(VPS13B):c.3082+1G>A
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_152564.5(VPS13B):c.3445+2T>A
NM_152564.5(VPS13B):c.3446-1G>A
NM_152564.5(VPS13B):c.3446-382_3463del rs1588410519
NM_152564.5(VPS13B):c.3667-1G>A rs750609612
NM_152564.5(VPS13B):c.3870+1G>A rs764225649
NM_152564.5(VPS13B):c.3870+1G>T rs764225649
NM_152564.5(VPS13B):c.412+1G>C rs1057517295
NM_152564.5(VPS13B):c.412+2T>C
NM_152564.5(VPS13B):c.4157+2T>G
NM_152564.5(VPS13B):c.4225-1G>A rs2133637043
NM_152564.5(VPS13B):c.4633+1G>A
NM_152564.5(VPS13B):c.4634-2A>G rs2133668102
NM_152564.5(VPS13B):c.4746-1G>T rs768342041
NM_152564.5(VPS13B):c.4950-1G>C rs1554852945
NM_152564.5(VPS13B):c.5076+1G>C
NM_152564.5(VPS13B):c.5076+1G>T
NM_152564.5(VPS13B):c.5077-62_5084delinsAAGTAAGG
NM_152564.5(VPS13B):c.580+1G>A rs1846848656
NM_152564.5(VPS13B):c.580+2T>C
NM_152564.5(VPS13B):c.581-1G>A
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.6046+1G>T rs750003804
NM_152564.5(VPS13B):c.7050+1G>T rs1057516840
NM_152564.5(VPS13B):c.7247+2043_7403del
NM_152564.5(VPS13B):c.7248-1G>C rs763079458
NM_152564.5(VPS13B):c.762+1G>A
NM_152564.5(VPS13B):c.762+2T>C rs1588048848
NM_152564.5(VPS13B):c.763-1G>T
NM_152564.5(VPS13B):c.7779+1G>C
NM_152564.5(VPS13B):c.7779+1G>T
NM_152564.5(VPS13B):c.8098-1G>C rs1554565484
NM_152564.5(VPS13B):c.8361+1G>A rs542757501
NM_152564.5(VPS13B):c.8362-1G>C
NM_152564.5(VPS13B):c.8445+1G>C
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.8793-2A>G
NM_152564.5(VPS13B):c.8995-1G>A
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.9183+1G>A rs2130822351
NM_152564.5(VPS13B):c.9183+2T>G
NM_152564.5(VPS13B):c.9184-1G>A
NM_152564.5(VPS13B):c.9184-2A>G
NM_152564.5(VPS13B):c.9184-2_9184del rs1057516807
NM_152564.5(VPS13B):c.9330+1G>C rs756013171
NM_152564.5(VPS13B):c.937+1G>A
NM_152564.5(VPS13B):c.938-1G>C rs2132515671
NM_152564.5(VPS13B):c.9742+1G>A
NM_152564.5(VPS13B):c.9742+2T>C rs1434569440
NM_152564.5(VPS13B):c.9743-2A>C rs1815345770
NM_152564.5(VPS13B):c.9743-5_9744del
NM_152564.5(VPS13B):c.9934_9942+5del rs1554575693
NM_152564.5(VPS13B):c.9942+1G>A rs1057517063
NM_152564.5(VPS13B):c.9942+1G>T rs1057517063
NM_181078.3(IL21R):c.686-2A>G
NM_181523.3(PIK3R1):c.1300-2A>G rs1403833564
NM_181523.3(PIK3R1):c.1300-5_1320del rs2112261986
NM_181523.3(PIK3R1):c.1946G>A (p.Arg649Gln)
NM_181523.3(PIK3R1):c.916+2T>C
NM_182916.3(TRNT1):c.128_130del (p.Glu43del) rs876661297
NM_182916.3(TRNT1):c.342+1G>T
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val) rs761516140
NM_183235.3(RAB27A):c.121A>C (p.Thr41Pro) rs1896186645
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645
NM_183235.3(RAB27A):c.220G>C (p.Asp74His)
NM_183235.3(RAB27A):c.229G>A (p.Gly77Arg)
NM_183235.3(RAB27A):c.239+3A>G rs1595695268
NM_183235.3(RAB27A):c.259G>T (p.Ala87Ser)
NM_183235.3(RAB27A):c.260C>T (p.Ala87Val) rs201697259
NM_183235.3(RAB27A):c.428T>C (p.Val143Ala)
NM_183235.3(RAB27A):c.467+1G>T
NM_183235.3(RAB27A):c.476A>G (p.Tyr159Cys)
NM_199242.3(UNC13D):c.1173+1G>A
NM_199242.3(UNC13D):c.118-307G>A rs1019391145
NM_199242.3(UNC13D):c.1298+2T>C
NM_199242.3(UNC13D):c.153+1G>A
NM_199242.3(UNC13D):c.154-1G>T
NM_199242.3(UNC13D):c.1728-2A>C
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) rs377293829
NM_199242.3(UNC13D):c.1848+1G>A
NM_199242.3(UNC13D):c.1848+1G>C
NM_199242.3(UNC13D):c.1848+2_1848+4del
NM_199242.3(UNC13D):c.2447+2T>C
NM_199242.3(UNC13D):c.258_261+16del
NM_199242.3(UNC13D):c.262-1G>A
NM_199242.3(UNC13D):c.2625+1G>A
NM_199242.3(UNC13D):c.2710-2A>G rs910650073
NM_199242.3(UNC13D):c.2955-1G>A rs1041960684
NM_199242.3(UNC13D):c.3147del (p.Asn1050fs) rs1048876742
NM_199242.3(UNC13D):c.321+1_321+2del rs2064960126
NM_199242.3(UNC13D):c.321+2T>G
NM_199242.3(UNC13D):c.570-2A>G
NM_199242.3(UNC13D):c.570-2A>T rs770325118
NM_199242.3(UNC13D):c.683+1G>A
NM_199242.3(UNC13D):c.859-1G>C rs1388957809
NM_199242.3(UNC13D):c.952-2A>G
NM_203447.4(DOCK8):c.1868+1G>A
NM_203447.4(DOCK8):c.2779-2A>C rs776399238
NM_203447.4(DOCK8):c.3530+1G>A rs1564025732
NM_203447.4(DOCK8):c.3841-1G>T rs1486452597
NM_203447.4(DOCK8):c.4024-2A>G
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.5490+2T>C
NM_203447.4(DOCK8):c.741+2T>C
NM_206937.2(LIG4):c.1103A>T (p.Asp368Val) rs1220876973
NM_206937.2(LIG4):c.743C>T (p.Pro248Leu) rs2138978193
NM_206937.2(LIG4):c.832C>A (p.Arg278Ser)
NM_206937.2(LIG4):c.833G>C (p.Arg278Pro)
NM_206937.2(LIG4):c.845A>G (p.His282Arg)
NM_206937.2(LIG4):c.847A>G (p.Lys283Glu) rs1594462950

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