ClinVar Miner

List of variants reported as likely pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7297
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HGVS dbSNP gnomAD frequency
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368 0.15258
NM_003200.5(TCF3):c.1291G>A (p.Gly431Ser) rs1052692 0.08952
NM_006206.6(PDGFRA):c.2323+1120C>T rs2291591 0.08547
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_003200.5(TCF3):c.1475C>T (p.Ala492Val) rs2074888 0.02845
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870 0.02284
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240 0.00209
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000065.5(C6):c.821del (p.Gln274fs) rs557023458 0.00131
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_000265.7(NCF1):c.269G>A (p.Arg90His) rs201802880 0.00110
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_000587.4(C7):c.405del (p.Asn136fs) rs139491301 0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) rs148677674 0.00077
NM_032415.7(CARD11):c.3145-3C>T rs200456391 0.00077
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912 0.00073
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350 0.00066
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_003200.5(TCF3):c.1422C>A (p.Asp474Glu) rs537417919 0.00061
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NR_023343.3(RNU4ATAC):n.51G>A rs188343279 0.00038
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter) rs778926161 0.00031
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000178.4(GSS):c.373C>T (p.Arg125Cys) rs28936396 0.00029
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu) rs143828923 0.00026
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_000066.4(C8B):c.271C>T (p.Gln91Ter) rs146187042 0.00023
NM_001737.5(C9):c.580C>T (p.Arg194Ter) rs146217095 0.00023
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp) rs369359789 0.00022
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_001080467.3(MYO5B):c.2306T>A (p.Ile769Asn) rs770764473 0.00021
NM_001080467.3(MYO5B):c.4637C>T (p.Thr1546Met) rs200907971 0.00021
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys) rs200180113 0.00021
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_198053.3(CD247):c.301C>T (p.Gln101Ter) rs55729925 0.00021
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu) rs139547269 0.00020
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_001085487.3(MYSM1):c.219-1G>A rs201886018 0.00016
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00016
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr) rs72553879 0.00016
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NR_003051.4(RMRP):n.240C>T rs749667892 0.00015
NM_000204.5(CFI):c.772G>A (p.Ala258Thr) rs199688124 0.00014
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714 0.00014
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924 0.00014
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908 0.00014
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285 0.00014
NM_000065.5(C6):c.1786C>T (p.Arg596Ter) rs142881576 0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_014639.4(SKIC3):c.4514T>C (p.Leu1505Ser) rs376720108 0.00013
NR_023343.3(RNU4ATAC):n.37G>A rs756026847 0.00013
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000250.2(MPO):c.249-2A>G rs762526880 0.00012
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter) rs200693133 0.00012
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln) rs782604431 0.00011
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896 0.00011
NM_001127198.5(TMC6):c.2022-1G>C rs202217062 0.00011
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) rs116040763 0.00011
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu) rs139497891 0.00011
NM_032415.7(CARD11):c.2921G>A (p.Arg974His) rs750407488 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_203447.4(DOCK8):c.3234+2T>C rs756871628 0.00010
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NM_000022.4(ADA):c.221G>T (p.Gly74Val) rs199422328 0.00009
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
NM_000383.4(AIRE):c.1095+2T>C rs760280615 0.00009
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys) rs193922461 0.00009
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg) rs200295901 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_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00009
NM_000383.4(AIRE):c.1203_1278+28del rs1568929576 0.00008
NM_001018115.3(FANCD2):c.1279-2A>G rs748006255 0.00008
NM_014639.4(SKIC3):c.642+1G>A rs538894487 0.00008
NM_016123.4(IRAK4):c.547C>T (p.Arg183Ter) rs114951157 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_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NR_023343.3(RNU4ATAC):n.18G>A rs991806266 0.00008
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000204.5(CFI):c.1019T>C (p.Ile340Thr) rs769419740 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000448.3(RAG1):c.2603C>T (p.Ala868Val) rs193922462 0.00007
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283 0.00007
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410 0.00007
NM_018062.4(FANCL):c.296_297del (p.Gln99fs) rs779544327 0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NR_003051.3(RMRP):n.-22_-13dup rs1554651507 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) rs179363892 0.00006
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616 0.00006
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000204.5(CFI):c.310G>A (p.Gly104Arg) rs200419722 0.00006
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000587.4(C7):c.1135G>C (p.Gly379Arg) rs121964921 0.00006
NM_001006658.3(CR2):c.1402+1G>A rs372838534 0.00006
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) rs144689354 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_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_182916.3(TRNT1):c.488A>T (p.Asp163Val) rs146717589 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NR_003051.4(RMRP):n.37C>T rs549085067 0.00006
NC_000009.12:g.35658031_35658037dup rs1554651506 0.00005
NM_000022.4(ADA):c.757C>T (p.Arg253Trp) rs201944717 0.00005
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) rs773767253 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_001737.5(C9):c.460C>T (p.Arg154Ter) rs144138616 0.00005
NM_002185.5(IL7R):c.539A>C (p.His180Pro) rs193922642 0.00005
NM_006610.4(MASP2):c.741+1G>T rs368040764 0.00005
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00005
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter) rs377745714 0.00005
NM_033629.6(TREX1):c.1A>G (p.Met1Val) rs761165865 0.00005
NR_023343.3(RNU4ATAC):n.48G>A rs863225422 0.00005
NC_000012.12:g.121641318T>C rs782753385 0.00004
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000204.5(CFI):c.1429+1G>C rs368555424 0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 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_000448.3(RAG1):c.322C>T (p.Arg108Ter) rs193922464 0.00004
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys) rs764485070 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_001002029.4(C4B):c.3676+1G>A rs771378213 0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp) rs139322149 0.00004
NM_001083116.3(PRF1):c.1628dup (p.Glu545fs) rs1564723449 0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala) rs745608560 0.00004
NM_001558.4(IL10RA):c.506T>C (p.Ile169Thr) rs369219156 0.00004
NM_001735.3(C5):c.4679-2A>G rs191466386 0.00004
NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr) rs193922641 0.00004
NM_006767.4(LZTR1):c.1943-1G>A rs1189015572 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln) rs141717050 0.00004
NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu) rs559063155 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_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 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_033629.6(TREX1):c.416del (p.Ala139fs) rs763229085 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_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu) rs199931785 0.00004
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter) rs370699359 0.00004
NR_003051.3(RMRP):n.-25_-3dup rs1554651413 0.00004
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NR_023343.3(RNU4ATAC):n.124G>A rs544312701 0.00004
NC_000009.12:g.35658018_35658038dup rs1563907710 0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 0.00003
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) rs121908718 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000051.4(ATM):c.590G>A (p.Gly197Glu) rs753806542 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_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000138.5(FBN1):c.442+1G>A rs868403743 0.00003
NM_000204.5(CFI):c.1071T>G (p.Ile357Met) rs200881135 0.00003
NM_000206.3(IL2RG):c.514C>A (p.Leu172Met) rs141707292 0.00003
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) rs137852616 0.00003
NM_000215.4(JAK3):c.2680+3G>C rs749481781 0.00003
NM_000246.4(CIITA):c.2888+1G>A rs372826934 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417 0.00003
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser) rs201156397 0.00003
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774 0.00003
NM_000417.3(IL2RA):c.100G>A (p.Ala34Thr) rs773957702 0.00003
NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp) rs758288006 0.00003
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) rs141524540 0.00003
NM_000448.3(RAG1):c.2258A>T (p.His753Leu) rs199474687 0.00003
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter) rs754502950 0.00003
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) rs193922574 0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797 0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter) rs751868289 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_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_001142864.4(PIEZO1):c.3206G>A (p.Trp1069Ter) rs1166021430 0.00003
NM_001558.4(IL10RA):c.302G>A (p.Arg101Gln) rs372372851 0.00003
NM_001625.4(AK2):c.498+1G>A rs777503956 0.00003
NM_001625.4(AK2):c.556C>T (p.Arg186Cys) rs267606645 0.00003
NM_001754.5(RUNX1):c.259G>T (p.Gly87Cys) rs561166961 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_002185.5(IL7R):c.2T>G (p.Met1Arg) rs200076125 0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494 0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His) rs28928906 0.00003
NM_002661.5(PLCG2):c.2095G>A (p.Gly699Ser) rs753618006 0.00003
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003331.5(TYK2):c.691C>T (p.Arg231Trp) rs201917359 0.00003
NM_004119.3(FLT3):c.1715A>G (p.Tyr572Cys) rs121913491 0.00003
NM_005337.5(NCKAP1L):c.1111A>G (p.Met371Val) rs750982844 0.00003
NM_005475.3(SH2B3):c.1087C>T (p.Pro363Ser) rs1029296641 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter) rs759511516 0.00003
NM_012433.4(SF3B1):c.1997A>G (p.Lys666Arg) rs374250186 0.00003
NM_015599.3(PGM3):c.-2-194C>T rs753019951 0.00003
NM_018344.6(SLC29A3):c.400C>T (p.Arg134Cys) rs1430557607 0.00003
NM_018344.6(SLC29A3):c.971C>T (p.Pro324Leu) rs758201217 0.00003
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter) rs193922703 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_024426.6(WT1):c.151del (p.Ala51fs) rs776155094 0.00003
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 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_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_032415.7(CARD11):c.2368G>A (p.Ala790Thr) rs531252532 0.00003
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs) rs748930384 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_080424.4(SP110):c.1984C>T (p.Arg662Ter) rs201059449 0.00003
NM_152564.5(VPS13B):c.7248-1G>A rs763079458 0.00003
NR_003051.3(RMRP):n.-14_-2dup13 rs1554651400 0.00003
NC_000009.12:g.35658024_35658040dup rs727502777 0.00002
NM_000022.4(ADA):c.350G>A (p.Trp117Ter) rs749484894 0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719 0.00002
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338 0.00002
NM_000022.4(ADA):c.911T>G (p.Leu304Arg) rs199422327 0.00002
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000135.4(FANCA):c.190-2A>T rs183350210 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu) rs776710796 0.00002
NM_000215.4(JAK3):c.1503G>T (p.Gln501His) rs201283129 0.00002
NM_000246.4(CIITA):c.436+1G>A rs373613022 0.00002
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp) rs1346436537 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val) rs753768576 0.00002
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn) rs758829443 0.00002
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr) rs765729815 0.00002
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu) rs753419933 0.00002
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs) rs773941375 0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000431.4(MVK):c.748G>A (p.Val250Ile) rs104895339 0.00002
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352 0.00002
NM_000448.3(RAG1):c.1981_1983del (p.Met661del) rs774103837 0.00002
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000448.3(RAG1):c.527G>T (p.Cys176Phe) rs149229197 0.00002
NM_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838 0.00002
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter) rs1313207845 0.00002
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) rs201550531 0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_000631.5(NCF4):c.529-2A>T rs199890705 0.00002
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) rs771869385 0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter) rs745930696 0.00002
NM_001065.4(TNFRSF1A):c.121G>C (p.Asp41His) rs199882512 0.00002
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro) rs751161742 0.00002
NM_001083116.3(PRF1):c.3G>A (p.Met1Ile) rs758728749 0.00002
NM_001083116.3(PRF1):c.921del (p.His308fs) rs777345151 0.00002
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) rs1432325198 0.00002
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs) rs773847168 0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_001372051.1(CASP8):c.306-1910G>A rs373232880 0.00002
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter) rs750126005 0.00002
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter) rs1057516045 0.00002
NM_002435.3(MPI):c.487+2del rs1057516550 0.00002
NM_002745.5(MAPK1):c.763A>G (p.Ile255Val) rs375334289 0.00002
NM_002838.5(PTPRC):c.583+1G>A rs137869655 0.00002
NM_003511.3(H2AC16):c.44C>G (p.Ala15Gly) rs890521687 0.00002
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00002
NM_005337.5(NCKAP1L):c.1076C>T (p.Pro359Leu) rs770633648 0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) rs758428763 0.00002
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe) rs143960270 0.00002
NM_006929.5(SKIC2):c.757C>T (p.Arg253Ter) rs768503878 0.00002
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln) rs773360200 0.00002
NM_014009.4(FOXP3):c.398C>T (p.Pro133Leu) rs782511378 0.00002
NM_014639.4(SKIC3):c.1374C>G (p.Tyr458Ter) rs373796916 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter) rs139804668 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.260G>C (p.Cys87Ser) rs1260264247 0.00002
NM_020661.4(AICDA):c.71G>A (p.Arg24Gln) rs886923939 0.00002
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275 0.00002
NM_022168.4(IFIH1):c.1852C>T (p.Arg618Ter) rs745937740 0.00002
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter) rs372632599 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter) rs876659533 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_058216.3(RAD51C):c.571+5G>A rs145779113 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_139027.6(ADAMTS13):c.1492C>T (p.Arg498Cys) rs201457594 0.00002
NM_144687.4(NLRP12):c.2879T>A (p.Leu960Ter) rs745881796 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) rs786204533 0.00002
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs) rs763909903 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00002
NM_172351.3(CD46):c.565T>G (p.Tyr189Asp) rs202071781 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
NR_003051.3(RMRP):n.-24_-12dupACTACTCTGTGAA rs781730798 0.00002
NC_000009.12:g.35658020_35658038dup rs1554651404 0.00001
NC_000009.12:g.35658024_35658041dup rs1554651453 0.00001
NC_000009.12:g.35658028_35658041dup rs1554651489 0.00001
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.301C>T (p.Arg101Trp) rs121908717 0.00001
NM_000022.4(ADA):c.377C>A (p.Pro126Gln) rs1233957241 0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725 0.00001
NM_000022.4(ADA):c.445C>T (p.Arg149Trp) rs121908733 0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735 0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722 0.00001
NM_000022.4(ADA):c.536C>A (p.Ala179Asp) rs121908727 0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000022.4(ADA):c.678+5G>C rs763478578 0.00001
NM_000022.4(ADA):c.780+1G>A rs746052951 0.00001
NM_000022.4(ADA):c.845+1G>C rs766590645 0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016 0.00001
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.1607+1G>T rs772926890 0.00001
NM_000051.4(ATM):c.186-1G>A rs1259911051 0.00001
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter) rs777849257 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 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.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3078-1G>A rs750663117 0.00001
NM_000051.4(ATM):c.332-1G>A rs747855862 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3965T>C (p.Leu1322Pro) rs786203306 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.4437-1G>C rs759520465 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 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.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5763-1056G>A rs1325461375 0.00001
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter) rs876658740 0.00001
NM_000051.4(ATM):c.6095+1G>A rs587781584 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6347+1G>A rs1057517120 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.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162 0.00001
NM_000051.4(ATM):c.7157C>A (p.Ala2386Glu) rs786203697 0.00001
NM_000051.4(ATM):c.72+1G>A rs786204088 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 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.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser) rs748634900 0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) rs876660933 0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) rs778269655 0.00001
NM_000051.4(ATM):c.8479T>A (p.Phe2827Ile) rs370152402 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter) rs587781597 0.00001
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro) rs587782202 0.00001
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000051.4(ATM):c.8584+2T>C rs730881326 0.00001
NM_000051.4(ATM):c.8615_8616del (p.His2872fs) rs1232259438 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.8786+1G>T rs17174393 0.00001
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs) rs758814126 0.00001
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter) rs587781698 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000064.4(C3):c.4534C>T (p.Arg1512Cys) rs1408701335 0.00001
NM_000065.5(C6):c.928-1G>C rs1432520854 0.00001
NM_000073.3(CD3G):c.271C>T (p.Gln91Ter) rs1948391148 0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000101.4(CYBA):c.287+2T>C rs747774702 0.00001
NM_000101.4(CYBA):c.369+1G>A rs905944088 0.00001
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) rs28941476 0.00001
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter) rs1280130060 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102 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.1944del (p.Glu648fs) rs1555549451 0.00001
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647 0.00001
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro) rs762526878 0.00001
NM_000135.4(FANCA):c.2222+1G>A rs775388912 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.2601+1G>T rs1188581065 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 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.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.3766-2A>G rs1219402916 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00001
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729 0.00001
NM_000135.4(FANCA):c.4011-3_4011-2del rs911481295 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.522+1G>T rs1365019056 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000135.4(FANCA):c.597-1G>C rs147945881 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000135.4(FANCA):c.79+1G>A rs1483028018 0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000135.4(FANCA):c.894-2A>G rs976556567 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000136.3(FANCC):c.-79+1G>A rs1228886763 0.00001
NM_000136.3(FANCC):c.108_109dup (p.His37fs) rs1057517131 0.00001
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227 0.00001
NM_000136.3(FANCC):c.1329+1G>T rs1554829441 0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477 0.00001
NM_000136.3(FANCC):c.166-2A>G rs587777945 0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.345+1G>A rs1175257797 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.45G>A (p.Trp15Ter) rs1831179586 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 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_000178.4(GSS):c.709C>T (p.Arg237Ter) rs201925123 0.00001
NM_000178.4(GSS):c.799C>T (p.Arg267Trp) rs121909308 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000186.4(CFH):c.3616C>T (p.Arg1206Cys) rs1573087364 0.00001
NM_000204.5(CFI):c.1165C>T (p.Arg389Cys) rs1292929833 0.00001
NM_000211.5(ITGB2):c.2077C>T (p.Arg693Ter) rs2083734400 0.00001
NM_000211.5(ITGB2):c.809C>T (p.Ala270Val) rs147318988 0.00001
NM_000215.4(JAK3):c.1208G>A (p.Arg403His) rs1599876167 0.00001
NM_000215.4(JAK3):c.1767C>T (p.Gly589=) rs193922362 0.00001
NM_000234.3(LIG1):c.2311C>T (p.Arg771Trp) rs121434561 0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys) rs190705322 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000246.4(CIITA):c.170C>A (p.Ala57Asp) rs1555500356 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.1070C>T (p.Ser357Leu) rs1555637232 0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.1948-1G>A rs1555634508 0.00001
NM_000271.5(NPC1):c.1990G>A (p.Val664Met) rs376213990 0.00001
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983 0.00001
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208 0.00001
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714 0.00001
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096 0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135 0.00001
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978 0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108 0.00001
NM_000271.5(NPC1):c.2933G>A (p.Arg978His) rs752728865 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys) rs548191894 0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962 0.00001
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) rs28942107 0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104 0.00001
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln) rs534280005 0.00001
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353 0.00001
NM_000271.5(NPC1):c.3309dup (p.Val1104fs) rs1057517194 0.00001
NM_000271.5(NPC1):c.3422T>G (p.Val1141Gly) rs144725473 0.00001
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167 0.00001
NM_000271.5(NPC1):c.3521C>T (p.Ala1174Val) rs780175800 0.00001
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly) rs369098773 0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NM_000271.5(NPC1):c.3591+1G>A rs786200877 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261 0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000271.5(NPC1):c.631+2T>C rs1555638833 0.00001
NM_000271.5(NPC1):c.743G>T (p.Gly248Val) rs1230538609 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.1163_1164insA (p.Met388fs) rs386833672 0.00001
NM_000383.4(AIRE):c.1278+1G>A rs1184559866 0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) rs763695515 0.00001
NM_000383.4(AIRE):c.1566+2T>A rs1057516985 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.1A>G (p.Met1Val) rs121434258 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_000383.4(AIRE):c.463+2T>C rs786204478 0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000383.4(AIRE):c.637C>T (p.Gln213Ter) rs1029475010 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) rs179363885 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.1006G>A (p.Gly336Ser) rs104895358 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000431.4(MVK):c.613A>G (p.Asn205Asp) rs104895364 0.00001
NM_000431.4(MVK):c.614A>G (p.Asn205Ser) rs767853272 0.00001
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366 0.00001
NM_000431.4(MVK):c.721C>T (p.Arg241Cys) rs758427037 0.00001
NM_000433.4(NCF2):c.1026G>A (p.Lys342=) rs1459123494 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.1229G>A (p.Arg410Gln) rs199474684 0.00001
NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp) rs199776076 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_000448.3(RAG1):c.424C>T (p.Arg142Ter) rs773929270 0.00001
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter) rs1434362838 0.00001
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) rs193922573 0.00001
NM_000536.4(RAG2):c.1321C>A (p.Pro441Thr) rs1336343565 0.00001
NM_000536.4(RAG2):c.1338C>G (p.Cys446Trp) rs1564995660 0.00001
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573 0.00001
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575 0.00001
NM_000536.4(RAG2):c.464T>C (p.Leu155Pro) rs1064793250 0.00001
NM_000543.5(SMPD1):c.1001T>C (p.Ile334Thr) rs759950370 0.00001
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg) rs1206562843 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 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.1343A>G (p.Tyr448Cys) rs747143343 0.00001
NM_000543.5(SMPD1):c.1361C>A (p.Ala454Asp) rs1402734026 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val) rs748589919 0.00001
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs) rs759389193 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) rs120074119 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.1805G>A (p.Arg602His) rs370129081 0.00001
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter) rs868423827 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_000543.5(SMPD1):c.502G>A (p.Gly168Arg) rs1847910654 0.00001
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter) rs1554934212 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000545.8(HNF1A):c.608G>A (p.Arg203His) rs587780357 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.578A>C (p.His193Pro) rs786201838 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.841G>A (p.Asp281Asn) rs764146326 0.00001
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) rs193922608 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_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000562.3(C8A):c.630C>A (p.Tyr210Ter) rs748306602 0.00001
NM_000628.5(IL10RB):c.611G>A (p.Trp204Ter) rs1329427406 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_000760.4(CSF3R):c.340C>T (p.Gln114Ter) rs756667927 0.00001
NM_001006658.3(CR2):c.1613A>G (p.His538Arg) rs763755514 0.00001
NM_001006658.3(CR2):c.3088+1G>A rs200320927 0.00001
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His) rs775061512 0.00001
NM_001013838.3(CARMIL2):c.520C>T (p.Arg174Ter) rs758210528 0.00001
NM_001018113.3(FANCB):c.1327-1G>A rs1295003944 0.00001
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 0.00001
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe) rs529893298 0.00001
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro) rs1181436417 0.00001
NM_001018115.3(FANCD2):c.2494+2T>C rs779552164 0.00001
NM_001018115.3(FANCD2):c.2976+5G>A rs748710535 0.00001
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs) rs770686014 0.00001
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter) rs369022159 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs) rs775517107 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00001
NM_001031689.3(PLAA):c.1487-1G>A rs1426488816 0.00001
NM_001033855.3(DCLRE1C):c.162-1G>T rs149090997 0.00001
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr) rs1317003987 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys) rs113994174 0.00001
NM_001083116.3(PRF1):c.1018G>A (p.Asp340Asn) rs754079962 0.00001
NM_001083116.3(PRF1):c.1066C>T (p.Arg356Trp) rs746365230 0.00001
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp) rs752858869 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_001083116.3(PRF1):c.916G>A (p.Gly306Ser) rs763002067 0.00001
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter) rs1347292940 0.00001
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe) rs138808921 0.00001
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231 0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter) rs748000458 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_001113378.2(FANCI):c.3006+3A>G rs1294973649 0.00001
NM_001113378.2(FANCI):c.3058+1G>A rs149464307 0.00001
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs) rs756691827 0.00001
NM_001113378.2(FANCI):c.3721-1G>C rs1173483373 0.00001
NM_001142864.4(PIEZO1):c.3197A>G (p.Asp1066Gly) rs1904552378 0.00001
NM_001142864.4(PIEZO1):c.3331C>T (p.Gln1111Ter) rs1161335800 0.00001
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val) rs786204740 0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976 0.00001
NM_001164277.2(SLC37A4):c.381+2T>G rs782645078 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu) rs193302890 0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289 0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889 0.00001
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001242.5(CD27):c.98G>A (p.Trp33Ter) rs1179448549 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_001378414.1(HDAC4):c.1580C>T (p.Pro527Leu) rs372078034 0.00001
NM_001558.4(IL10RA):c.537G>A (p.Thr179=) rs1419560997 0.00001
NM_001558.4(IL10RA):c.68-1G>A rs1414190221 0.00001
NM_001735.3(C5):c.1407G>A (p.Trp469Ter) rs1408798589 0.00001
NM_001735.3(C5):c.2257+1G>A rs750416999 0.00001
NM_001737.5(C9):c.577del (p.Tyr193fs) rs778518669 0.00001
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter) rs141698985 0.00001
NM_002435.3(MPI):c.1253G>A (p.Arg418His) rs863225087 0.00001
NM_002435.3(MPI):c.13C>T (p.Arg5Ter) rs1452559752 0.00001
NM_002435.3(MPI):c.145-1G>C rs1057516573 0.00001
NM_002435.3(MPI):c.166C>T (p.Arg56Ter) rs757168691 0.00001
NM_002435.3(MPI):c.251C>G (p.Ser84Ter) rs978284448 0.00001
NM_002435.3(MPI):c.488-1G>C rs759579169 0.00001
NM_002435.3(MPI):c.652A>T (p.Lys218Ter) rs1057516424 0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter) rs776340315 0.00001
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) rs387907272 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175 0.00001
NM_002880.4(RAF1):c.61G>A (p.Val21Met) rs752484962 0.00001
NM_002880.4(RAF1):c.709G>A (p.Ala237Thr) rs587777588 0.00001
NM_002880.4(RAF1):c.770C>G (p.Ser257Trp) rs80338796 0.00001
NM_003177.7(SYK):c.1350G>A (p.Met450Ile) rs1304839707 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_003721.4(RFXANK):c.438+5G>A rs1196984337 0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs) rs753338285 0.00001
NM_003998.4(NFKB1):c.482C>T (p.Ala161Val) rs1354534120 0.00001
NM_004119.3(FLT3):c.2525A>G (p.Tyr842Cys) rs376588714 0.00001
NM_004380.3(CREBBP):c.5188A>G (p.Ile1730Val) rs1159294530 0.00001
NM_004444.5(EPHB4):c.1093C>T (p.Arg365Ter) rs1279971868 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.1761-2A>C rs765150956 0.00001
NM_004629.2(FANCG):c.85-2A>T rs759590778 0.00001
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter) rs754484649 0.00001
NM_004946.3(DOCK2):c.3310C>T (p.Arg1104Trp) rs780318765 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_005026.5(PIK3CD):c.3071G>A (p.Arg1024His) rs759704849 0.00001
NM_005027.4(PIK3R2):c.850G>A (p.Val284Met) rs1212577459 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.1431G>A (p.Trp477Ter) rs1169744090 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_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_006060.6(IKZF1):c.64G>A (p.Asp22Asn) rs1245618829 0.00001
NM_006060.6(IKZF1):c.814G>A (p.Ala272Thr) rs778820674 0.00001
NM_006118.4(HAX1):c.407del (p.His136fs) rs748595772 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_006758.3(U2AF1):c.101C>A (p.Ser34Tyr) rs371769427 0.00001
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.1260+1G>A rs143868364 0.00001
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs) rs1460026299 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006767.4(LZTR1):c.2044A>G (p.Lys682Glu) rs758472207 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006767.4(LZTR1):c.347C>G (p.Ala116Gly) rs1215353050 0.00001
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) rs587777177 0.00001
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter) rs753295968 0.00001
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln) rs781431741 0.00001
NM_006767.4(LZTR1):c.510-2A>G rs1458682620 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_006785.4(MALT1):c.926-1G>A rs143682914 0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196 0.00001
NM_006929.5(SKIC2):c.1297C>T (p.Arg433Cys) rs750250320 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_012250.6(RRAS2):c.208G>A (p.Ala70Thr) rs782457908 0.00001
NM_012275.3(IL36RN):c.29+1G>A rs1489262806 0.00001
NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly) rs775623976 0.00001
NM_012433.4(SF3B1):c.1996A>C (p.Lys666Gln) rs754688962 0.00001
NM_012433.4(SF3B1):c.2225G>A (p.Gly742Asp) rs755415626 0.00001
NM_012452.3(TNFRSF13B):c.61+2T>A rs760885614 0.00001
NM_014140.4(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup) rs1553526162 0.00001
NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu) rs758367100 0.00001
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038 0.00001
NM_014140.4(SMARCAL1):c.1934G>A (p.Arg645His) rs1281345070 0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035 0.00001
NM_014140.4(SMARCAL1):c.2570G>A (p.Gly857Glu) rs1553535161 0.00001
NM_014339.7(IL17RA):c.310+2T>C rs201128237 0.00001
NM_014639.4(SKIC3):c.2018G>A (p.Gly673Asp) rs769075304 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027 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_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) rs1335417539 0.00001
NM_015599.3(PGM3):c.-2-1G>C rs1483237450 0.00001
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) rs144104577 0.00001
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 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.2T>C (p.Met1Thr) rs761291501 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_018389.5(SLC35C1):c.872C>T (p.Thr291Ile) rs751828447 0.00001
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu) rs193922704 0.00001
NM_020661.4(AICDA):c.544-2A>G rs772388034 0.00001
NM_020937.4(FANCM):c.1397-1G>T rs1887394029 0.00001
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter) rs961245497 0.00001
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter) rs866435487 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_020964.3(EPG5):c.7333C>T (p.Arg2445Ter) rs780889226 0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064 0.00001
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289 0.00001
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr) rs376610445 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.1238-1G>C rs1767507722 0.00001
NM_021922.3(FANCE):c.1509+1G>A rs745877509 0.00001
NM_021922.3(FANCE):c.1510-1G>A rs772678337 0.00001
NM_021922.3(FANCE):c.248+1del rs1767163932 0.00001
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter) rs752690798 0.00001
NM_021922.3(FANCE):c.297del (p.Met99fs) rs754850404 0.00001
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter) rs760150539 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.488C>T (p.Thr163Ile) rs79310911 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_024675.4(PALB2):c.3350+5G>A rs587782566 0.00001
NM_031157.4(HNRNPA1):c.949A>G (p.Asn317Asp) rs483353023 0.00001
NM_031229.4(RBCK1):c.1160A>G (p.Asn387Ser) rs566912235 0.00001
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs) rs730880330 0.00001
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) rs121918297 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 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.206-2A>G rs786203700 0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs) rs587780236 0.00001
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574 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_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu) rs76091978 0.00001
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter) rs1265030199 0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773 0.00001
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter) rs1267428175 0.00001
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs) rs763914156 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_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_032638.5(GATA2):c.1160C>A (p.Thr387Asn) rs1060500092 0.00001
NM_032638.5(GATA2):c.937C>T (p.His313Tyr) rs2068661887 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030 0.00001
NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter) rs759292615 0.00001
NM_058216.3(RAD51C):c.404+2T>C rs730881931 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.905-2_905-1del rs587781995 0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874 0.00001
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376 0.00001
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter) rs1011767398 0.00001
NM_139027.6(ADAMTS13):c.1192C>T (p.Arg398Cys) rs376606652 0.00001
NM_139027.6(ADAMTS13):c.330+2T>C rs1474290508 0.00001
NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp) rs281875287 0.00001
NM_144687.4(NLRP12):c.2360dup (p.Met787fs) rs768447330 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.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.10867+1G>A rs780902262 0.00001
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs) rs386834059 0.00001
NM_152564.5(VPS13B):c.11501del (p.Met3834fs) rs1394681818 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.11746-1G>A rs372327659 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_152564.5(VPS13B):c.147+1G>A rs1057517029 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 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.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 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.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter) rs1057516633 0.00001
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs) rs886041586 0.00001
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter) rs386834099 0.00001
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs) rs754016783 0.00001
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) rs371364257 0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) rs748404277 0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) rs386834104 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 0.00001
NM_152564.5(VPS13B):c.7429+1G>A rs386834106 0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) rs386834107 0.00001
NM_152564.5(VPS13B):c.7780-2A>C rs1378196300 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_152564.5(VPS13B):c.8097+1G>A rs1813590716 0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter) rs386834112 0.00001
NM_152564.5(VPS13B):c.8792+1G>T rs1415714103 0.00001
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr) rs121909591 0.00001
NM_182916.3(TRNT1):c.1010del (p.Thr337fs) rs772805677 0.00001
NM_199242.3(UNC13D):c.1055+1G>A rs754205110 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.520C>T (p.Gln174Ter) rs1157287613 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_199242.3(UNC13D):c.919C>T (p.Gln307Ter) rs747169857 0.00001
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter) rs372598000 0.00001
NM_203447.4(DOCK8):c.1680-2A>G rs749633690 0.00001
NM_206937.2(LIG4):c.1312T>C (p.Tyr438His) rs886037777 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
NR_003051.3(RMRP):n.-13_-7dup7 rs1554651462 0.00001
NR_003051.3(RMRP):n.-16_-4dup rs1554651422 0.00001
NR_003051.3(RMRP):n.-19_-12dup8 rs1554651505 0.00001
NR_003051.3(RMRP):n.-20_-8dup rs1823640657 0.00001
NR_003051.3(RMRP):n.-22_-15dupTACTCTGT rs1563908212 0.00001
NR_003051.3(RMRP):n.-22_-4dup rs1554651427 0.00001
NR_003051.3(RMRP):n.-23_-5dup19 rs1554651428 0.00001
NR_003051.3(RMRP):n.-25_-8dup18 rs1554651473 0.00001
NR_003051.3(RMRP):n.-3_1dupCGTG rs1554651381 0.00001
NR_003051.4(RMRP):n.-20_-1dup rs1554651403 0.00001
NR_003051.4(RMRP):n.-21_-13dup rs1563908167 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
NR_003051.4(RMRP):n.42G>A rs1156413585 0.00001
46;X;t(X;12)(p11.2;q24.33)dn
46;XX;t(4;14)(p15.2;q13)dn
46;XX;t(6;17)(q13;q21)dn
GRCh37/hg19 16p12.2(chr16:23619233-23625407)x1
GRCh37/hg19 1q21.3(chr1:154247426-154248177)
GRCh37/hg19 4q24(chr4:102851823-104641864)
GRCh37/hg19 8q22.2(chr8:99096530-99142877)x4
GRCh38/hg38 16q24.3(chr16:89773385-89775741)
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.(231037676_231042253)_(231042397_231042872)del
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_000002.12:g.121530995A>T rs982261295
NC_000002.12:g.216370024_216479573inv
NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del
NC_000003.11:g.(?_10068070)_(10070406_10074515)del
NC_000003.11:g.(?_10068070)_(10094182_10101977)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_000004.12:g.104314621_104314622insG rs1578264146
NC_000005.9:g.(94830722_94833119)_(94834296_94838583)del
NC_000005.9:g.(94877085_94877518)_(94886355_94890639)del
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.(74188451_74191612)_(74193769_74195125)dup
NC_000007.13:g.(?_103196019)_(103206706_?)del
NC_000007.14:g.(?_103589576)_(103610827_?)dup
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
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.(215030_271626)_(328172_332397)dup
NC_000009.11:g.(215030_271626)_(336719_339005)dup
NC_000009.11:g.(215030_271626)_(399260_404917)dup
NC_000009.11:g.(407070_414781)_(434976_439244)del
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
NC_000009.11:g.(?_214864)_(215030_271626)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.(333421_334903)del
NC_000009.12:g.(?_286441)_(289601_?)del
NC_000009.12:g.(?_304561)_(399279_?)dup
NC_000009.12:g.(?_334205)_(340341_?)dup
NC_000009.12:g.(?_95171069)_(95172157_?)dup
NC_000009.12:g.35658016_35658043dup
NC_000009.12:g.35658018_35658040dup rs1554651376
NC_000009.12:g.35658018_35658041dup rs2131809417
NC_000009.12:g.35658019_35658038dup rs2131809449
NC_000009.12:g.35658020_35658037dup rs1554651396
NC_000009.12:g.35658020_35658043dup rs1823632816
NC_000009.12:g.35658022TCCTCAGCTTCACAGA[3] rs1563907859
NC_000009.12:g.35658022_35658032dup rs1554651425
NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3] rs727502778
NC_000009.12:g.35658023_35658037dup rs1823637565
NC_000009.12:g.35658023_35658038dup rs1823637651
NC_000009.12:g.35658024_35658038dup
NC_000009.12:g.35658024delinsTTCAGCTTCACAGAGTAGTA rs2131809783
NC_000009.12:g.35658025_35658032dup rs1563907946
NC_000009.12:g.35658025_35658039dup rs1823639713
NC_000009.12:g.35658026_35658032dup rs2131809964
NC_000009.12:g.35658026_35658037dup rs2131809978
NC_000009.12:g.35658029_35658036dup rs1230629953
NC_000009.12:g.35658032_35658038dup
NC_000009.12:g.35658032_35658041dup rs1554651524
NC_000009.12:g.35658032_35658044dup rs1554651508
NC_000009.12:g.35658032_35658045dup rs1554651499
NC_000009.12:g.35658036_35658037insGTCCCCAGCTTCACAGA rs1823648167
NC_000009.12:g.35658036_35658042dup rs1554651543
NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT
NC_000009.12:g.35658041_35658042insGTGAGTAG rs930432793
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_000011.10:g.117986319_117986651del rs2134978631
NC_000011.9:g.(108119830_108121427)_(108124767_108126941)del
NC_000011.9:g.(108129803_108137897)_(108239827_?)del
NC_000011.9:g.(118215194_118219741)_(118224498_?)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_000014.9:g.105855132dup rs2092930640
NC_000014.9:g.105856013G>T rs2142904095
NC_000014.9:g.95696766_96390792dup
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.(89831475_89833548)_(89883066_?)del
NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
NC_000016.9:g.(89866047_89869666)_(89877480_89880927)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.(21131692_21134721)_(21141492_21148786)dup
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.(35533907_35539620)_(35547923_35555584)dup
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_000022.11:g.36864921_36864935del rs1200078508
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.(?_153640181)_(153641904_?)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
NC_000023.11:g.[124350560_124365777del;124365777_124365917inv;124365911_124365916del]
NG_032580.1:g.(92613040_92613130)_(92613377_92613619)del
NM_000022.3(ADA):c.[780+1G>A];[986C>T]
NM_000022.4(ADA):c.1078+1G>A
NM_000022.4(ADA):c.1078+2T>A rs1555843178
NM_000022.4(ADA):c.1078+2T>C
NM_000022.4(ADA):c.141_142del (p.Asn48fs)
NM_000022.4(ADA):c.187del (p.Ala63fs)
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter) rs1419063255
NM_000022.4(ADA):c.218+1G>T
NM_000022.4(ADA):c.218+2T>G rs1555845120
NM_000022.4(ADA):c.219-1G>A rs751147673
NM_000022.4(ADA):c.219-2A>G rs387906267
NM_000022.4(ADA):c.220G>T (p.Gly74Cys) rs121908730
NM_000022.4(ADA):c.221G>A (p.Gly74Asp)
NM_000022.4(ADA):c.293del (p.Val98fs)
NM_000022.4(ADA):c.301C>G (p.Arg101Gly) rs121908717
NM_000022.4(ADA):c.311C>T (p.Pro104Leu) rs1452483770
NM_000022.4(ADA):c.322del (p.Ala108fs)
NM_000022.4(ADA):c.355dup (p.Gln119fs)
NM_000022.4(ADA):c.362+5_362+8del rs763595926
NM_000022.4(ADA):c.363-1G>T
NM_000022.4(ADA):c.363-2A>G rs2145318314
NM_000022.4(ADA):c.363-2A>T
NM_000022.4(ADA):c.366_367del (p.Asp123fs) rs758073965
NM_000022.4(ADA):c.383_404dup (p.Leu137fs) rs1555844616
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.385G>T (p.Val129Leu) rs121908731
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.407del (p.Gly136fs)
NM_000022.4(ADA):c.410del (p.Leu137fs)
NM_000022.4(ADA):c.412C>T (p.Gln138Ter)
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.466C>A (p.Arg156Ser)
NM_000022.4(ADA):c.467G>C (p.Arg156Pro) rs121908722
NM_000022.4(ADA):c.478+1G>C
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.511A>T (p.Lys171Ter) rs2065361731
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter) rs748810619
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.556G>A (p.Glu186Lys) rs1555844416
NM_000022.4(ADA):c.577dup (p.Leu193fs) rs759445496
NM_000022.4(ADA):c.603C>A (p.Tyr201Ter) rs1555844395
NM_000022.4(ADA):c.603C>G (p.Tyr201Ter) rs1555844395
NM_000022.4(ADA):c.606+1G>T
NM_000022.4(ADA):c.622_632del (p.Gly208fs)
NM_000022.4(ADA):c.631C>A (p.Arg211Ser)
NM_000022.4(ADA):c.674_675del (p.Lys225fs)
NM_000022.4(ADA):c.678+2T>C
NM_000022.4(ADA):c.679-2A>G
NM_000022.4(ADA):c.690dup (p.Leu231fs) rs2065346614
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000022.4(ADA):c.755_756insTG (p.Arg253fs)
NM_000022.4(ADA):c.763G>T (p.Glu255Ter) rs2123517896
NM_000022.4(ADA):c.767del (p.Asn256fs) rs2123517868
NM_000022.4(ADA):c.780+1del rs2123517791
NM_000022.4(ADA):c.781-1G>T
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs) rs757796081
NM_000022.4(ADA):c.790del (p.Trp264fs) rs1555844006
NM_000022.4(ADA):c.791G>A (p.Trp264Ter) rs2065342571
NM_000022.4(ADA):c.813_814insAC (p.Trp272fs)
NM_000022.4(ADA):c.829del (p.Glu277fs)
NM_000022.4(ADA):c.83T>A (p.Leu28Ter)
NM_000022.4(ADA):c.845G>T (p.Arg282Leu)
NM_000022.4(ADA):c.854dup (p.Asn285fs) rs2123511347
NM_000022.4(ADA):c.859C>T (p.Gln287Ter) rs2065327852
NM_000022.4(ADA):c.872C>G (p.Ser291Trp) rs121908721
NM_000022.4(ADA):c.877_878delinsT (p.Asn293fs)
NM_000022.4(ADA):c.890C>T (p.Pro297Leu) rs121908718
NM_000022.4(ADA):c.906_915delinsTGTTACCAGATTACCAGATG (p.Thr303fs)
NM_000022.4(ADA):c.946_947insTGTT (p.Gly316fs)
NM_000022.4(ADA):c.95+1G>T
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.976-1_979del rs1441174171
NM_000022.4(ADA):c.976-34G>A rs1194494050
NM_000022.4(ADA):c.993dup (p.Ser332fs)
NM_000043.6(FAS):c.197-1G>A rs2133502090
NM_000043.6(FAS):c.197-2A>G rs1564691414
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+1G>A rs1564696849
NM_000043.6(FAS):c.651+5G>T
NM_000043.6(FAS):c.693dup (p.Tyr232fs)
NM_000043.6(FAS):c.713G>T (p.Gly238Val)
NM_000043.6(FAS):c.718_719insGTCG (p.Met240fs)
NM_000043.6(FAS):c.748C>G (p.Arg250Gly)
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000043.6(FAS):c.776T>C (p.Ile259Thr) rs1848675068
NM_000043.6(FAS):c.779A>G (p.Asp260Gly)
NM_000043.6(FAS):c.789G>C (p.Lys263Asn) rs2119446096
NM_000043.6(FAS):c.802dup (p.Gln268fs)
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_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.6007dup rs1555113505
NM_000051.3(ATM):c.8419delG rs2137023331
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.1065+1G>A rs201089102
NM_000051.4(ATM):c.1065+1G>C 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.1066-1G>T rs876660038
NM_000051.4(ATM):c.1066-1_1081del rs2135289838
NM_000051.4(ATM):c.1066-2A>C rs1555069514
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.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1192del (p.Asp398fs) rs1057519330
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1235+1G>A rs1555069881
NM_000051.4(ATM):c.1235+1G>C
NM_000051.4(ATM):c.1235+2T>A
NM_000051.4(ATM):c.1235+2T>C rs2135296157
NM_000051.4(ATM):c.1235G>C (p.Trp412Ser) rs587779813
NM_000051.4(ATM):c.1236-1G>A rs1408719214
NM_000051.4(ATM):c.1236-2del rs1565381646
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1305del (p.Leu435fs) rs1555070719
NM_000051.4(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.4(ATM):c.1367del (p.Leu456fs) rs1555070832
NM_000051.4(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.4(ATM):c.153dup (p.Gly52fs) rs1555054197
NM_000051.4(ATM):c.157A>T (p.Lys53Ter) rs876659078
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.1617dup (p.Cys540fs)
NM_000051.4(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.4(ATM):c.1668_2466+1284del
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs) rs1057516721
NM_000051.4(ATM):c.1743dup (p.Phe582fs)
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.4(ATM):c.1754dup (p.Leu585fs) rs1555072012
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.1813del (p.His605fs) rs2135352736
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.1856del (p.Asn619fs) rs1057517300
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.1914dup (p.Asp639fs) rs2080292910
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.2074_2124+280del
NM_000051.4(ATM):c.2086_2087dup
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.2125del (p.Ile709fs) rs1057517248
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter) rs1057516620
NM_000051.4(ATM):c.2140del (p.Thr714fs) rs2080473458
NM_000051.4(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.4(ATM):c.2250+1G>A rs1565395193
NM_000051.4(ATM):c.2251-1G>A rs876659710
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2295del (p.Asn765fs) rs876658583
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.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs) rs2135421164
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg) rs775644968
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.2528_2529del (p.Asn843fs)
NM_000051.4(ATM):c.2542G>T (p.Glu848Ter) rs879254046
NM_000051.4(ATM):c.2606_2607del (p.Ala869fs) rs1057516944
NM_000051.4(ATM):c.2638+1G>T rs2135509713
NM_000051.4(ATM):c.2639-19_2639-7del rs1591593439
NM_000051.4(ATM):c.2639-1G>A
NM_000051.4(ATM):c.2639-2A>G rs1591593566
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2838+1G>A rs1555083469
NM_000051.4(ATM):c.2838+1G>T rs1555083469
NM_000051.4(ATM):c.2838+6T>C rs781730571
NM_000051.4(ATM):c.2838G>T (p.Met946Ile) rs1317505466
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter) rs1057517253
NM_000051.4(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.2921+2dup rs1565424654
NM_000051.4(ATM):c.2922-1G>T rs1555084931
NM_000051.4(ATM):c.2929T>C (p.Cys977Arg) rs2135551484
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr) rs1555085052
NM_000051.4(ATM):c.2966dup (p.Ile990fs) rs1555085060
NM_000051.4(ATM):c.2999dup (p.Asn1000fs) rs1057516250
NM_000051.4(ATM):c.3024dup (p.Glu1009Ter) rs1555085172
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3068del (p.Gly1023fs) rs1057516590
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.3102T>G (p.Tyr1034Ter) rs780240314
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.3154-1G>A rs1555085973
NM_000051.4(ATM):c.3154-1_3154delinsTT rs2081657007
NM_000051.4(ATM):c.3231dup (p.Leu1078fs) rs1057517097
NM_000051.4(ATM):c.3248A>G (p.His1083Arg) rs2081667850
NM_000051.4(ATM):c.3284+1G>A rs864622129
NM_000051.4(ATM):c.3284+1G>C rs864622129
NM_000051.4(ATM):c.3284+3A>G rs1591610398
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys) rs587781815
NM_000051.4(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.331+2T>C rs1555055358
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3315dup (p.Arg1106fs) rs1057516301
NM_000051.4(ATM):c.332-3_347del
NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer) rs1555090139
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
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.3435_3436delinsA (p.Asp1145fs) rs886039632
NM_000051.4(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.4(ATM):c.3503dup (p.Cys1168fs) rs2082209411
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
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.3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3680_3683del (p.Thr1227fs) rs2082302853
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.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.4(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.4(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.4(ATM):c.3928C>T (p.Gln1310Ter)
NM_000051.4(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.3990del (p.Lys1330fs) rs1057517100
NM_000051.4(ATM):c.3993+1G>T rs200196781
NM_000051.4(ATM):c.3994-1G>T rs1057516238
NM_000051.4(ATM):c.4007del (p.Phe1336fs) rs1555095841
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.4(ATM):c.4062del (p.Ala1355fs) rs2135736779
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer) rs1555096057
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.4(ATM):c.4109+1G>A rs879254034
NM_000051.4(ATM):c.4109+1G>T rs879254034
NM_000051.4(ATM):c.4111del rs797045114
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
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.4246C>T (p.Gln1416Ter) rs1057516311
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs) rs2135760623
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.4358del (p.Ile1453fs) rs2082679287
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.4410T>A (p.Tyr1470Ter)
NM_000051.4(ATM):c.4426_4436+14del
NM_000051.4(ATM):c.4436+1G>T rs1555097894
NM_000051.4(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.4(ATM):c.4575dup (p.Pro1526fs) rs2135801723
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
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.4612-2A>C rs1555100347
NM_000051.4(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.4(ATM):c.4695del (p.Pro1566fs) rs1057517452
NM_000051.4(ATM):c.471T>A (p.Cys157Ter) rs1555059459
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.4741del (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.4776+1G>T rs771117943
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4777-1G>A rs1591684268
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4879del (p.Gln1627fs) rs2135837254
NM_000051.4(ATM):c.4910-1G>C rs1060501706
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.5005G>A (p.Glu1669Lys) rs1591693095
NM_000051.4(ATM):c.5006-1G>A rs1591701799
NM_000051.4(ATM):c.5006-2A>G rs2135887733
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs) rs1591702700
NM_000051.4(ATM):c.5129_5763-1060del
NM_000051.4(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer) rs1057516358
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.513C>T (p.Tyr171=) rs786201693
NM_000051.4(ATM):c.5172dup (p.Asp1725fs) rs2135893222
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.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5178-2A>G rs2135911500
NM_000051.4(ATM):c.5178-9_5202del rs2135911351
NM_000051.4(ATM):c.5276del (p.Pro1759fs)
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
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.5320-2A>G
NM_000051.4(ATM):c.5320-4_5323del rs1057516540
NM_000051.4(ATM):c.5320-5_5320-2del rs730881310
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5351del (p.Asn1784fs) rs1057517101
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.4(ATM):c.5433T>A (p.Cys1811Ter) rs1555106493
NM_000051.4(ATM):c.5460dup (p.Cys1821fs) rs1057516760
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.5497-2A>C rs786203796
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.4(ATM):c.5675-1G>C rs2135975662
NM_000051.4(ATM):c.5675-24_5699del
NM_000051.4(ATM):c.5712del (p.Lys1904fs) rs587781730
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5762+1G>T rs869312756
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.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.4(ATM):c.588del (p.Gly197fs) rs1057516683
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.4(ATM):c.5896dup (p.Ser1966fs) rs1555110514
NM_000051.4(ATM):c.5910del (p.Glu1971fs) rs587782198
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.5977dup (p.Ser1993fs) rs1591758642
NM_000051.4(ATM):c.6007-1G>A rs1365726807
NM_000051.4(ATM):c.6007-2A>G rs2136117225
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.6082del (p.Gln2028fs) rs1565499093
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.6198+2T>C rs1555113882
NM_000051.4(ATM):c.6199-2del rs1555114545
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter) rs1565503182
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter) rs1591789955
NM_000051.4(ATM):c.6325dup (p.Trp2109fs) rs1555114812
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.6385T>G (p.Tyr2129Asp) rs876658542
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.6452+2T>C rs1064795006
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.6482_6483dup (p.Ser2162fs) rs1057516905
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.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer) rs747057367
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.664C>T (p.Gln222Ter) rs1555066917
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs) rs1591129337
NM_000051.4(ATM):c.6751del (p.Leu2251fs)
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.6838_6839dup (p.Gln2280fs) rs2136332542
NM_000051.4(ATM):c.6850del (p.Val2284fs) rs876659569
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter) rs2136334561
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser) rs1555119899
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.6976-2A>C rs587782403
NM_000051.4(ATM):c.6984del (p.Ser2329fs)
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) rs786203421
NM_000051.4(ATM):c.7089+1G>A rs777741666
NM_000051.4(ATM):c.7089+1G>C rs777741666
NM_000051.4(ATM):c.7089+2T>G rs1057516235
NM_000051.4(ATM):c.7089G>C (p.Lys2363Asn)
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs) rs1555122030
NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter) rs1018140779
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.72+2del rs1555053972
NM_000051.4(ATM):c.7203del (p.Ile2401fs) rs2136417490
NM_000051.4(ATM):c.7241_7244del (p.Gln2414fs) rs1591151678
NM_000051.4(ATM):c.7247_7248del (p.Leu2416fs)
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.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.4(ATM):c.742C>G (p.Arg248Gly)
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.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.7629+1G>A rs1565532703
NM_000051.4(ATM):c.7629+1del
NM_000051.4(ATM):c.7629_7629+4del rs876660041
NM_000051.4(ATM):c.7630-2A>G rs587779866
NM_000051.4(ATM):c.7674dup (p.Ile2559fs)
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7767del (p.Lys2589fs) rs1057517025
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>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7789-1G>A rs1591177953
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7796del (p.Thr2599fs) rs1555125223
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.7858del (p.Val2620fs) rs1555125349
NM_000051.4(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7880del (p.Tyr2627fs) rs1057516599
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.7927+5del rs786204437
NM_000051.4(ATM):c.7928-2A>G rs864622610
NM_000051.4(ATM):c.7928-2A>T rs864622610
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter) rs587781994
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.4(ATM):c.7997C>T (p.Thr2666Ile) rs730881384
NM_000051.4(ATM):c.7998dup (p.Met2667fs) rs587779869
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.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys) rs28942103
NM_000051.4(ATM):c.8031T>G (p.Tyr2677Ter)
NM_000051.4(ATM):c.8056T>C (p.Phe2686Leu) rs1555127125
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs) rs1064793406
NM_000051.4(ATM):c.8105T>C (p.Ile2702Thr) rs876659735
NM_000051.4(ATM):c.8106dup (p.Asp2703fs) rs1555127231
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8122G>C (p.Asp2708His) rs587782719
NM_000051.4(ATM):c.8148_8151+2del rs1565541335
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.4(ATM):c.8188C>T (p.Gln2730Ter) rs587782317
NM_000051.4(ATM):c.8189A>C (p.Gln2730Pro) rs762154857
NM_000051.4(ATM):c.8207_8211del (p.Asn2736fs) rs2136696317
NM_000051.4(ATM):c.8227_8228del (p.Thr2743fs) rs2086795898
NM_000051.4(ATM):c.8265del (p.Thr2754_Tyr2755insTer)
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.829del (p.Glu277fs)
NM_000051.4(ATM):c.8368del (p.Arg2790fs) rs2136948975
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
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.8535G>A (p.Trp2845Ter) rs1555138291
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.8585-2A>G rs1060501700
NM_000051.4(ATM):c.8586del (p.Gly2863fs) rs1555139467
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.8671+2T>C rs1057516229
NM_000051.4(ATM):c.8672-1G>A rs876660088
NM_000051.4(ATM):c.8672-1G>C rs876660088
NM_000051.4(ATM):c.8708C>T (p.Pro2903Leu) rs2089498194
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.4(ATM):c.8712G>C (p.Glu2904Asp)
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.4(ATM):c.8732C>A (p.Thr2911Asn)
NM_000051.4(ATM):c.877A>T (p.Lys293Ter) rs1057516442
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.8802del (p.Met2935fs) rs876660567
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.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.8907T>G (p.Tyr2969Ter)
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter) rs1565607653
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.8988-1G>T rs730881386
NM_000051.4(ATM):c.8988-2A>C rs786202087
NM_000051.4(ATM):c.8988-2A>G rs786202087
NM_000051.4(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000051.4(ATM):c.901+1_901+26del rs1380265721
NM_000051.4(ATM):c.901+2T>G
NM_000051.4(ATM):c.901+3A>T rs786203070
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
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.9047_9057del (p.Lys3016fs) rs587782847
NM_000051.4(ATM):c.9064dup (p.Glu3022fs) rs1057516282
NM_000051.4(ATM):c.9066del (p.Gly3023fs)
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter) rs1555152009
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.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_000051.4(ATM):c.920_921del (p.Lys307fs) rs2135264840
NM_000051.4:c.(331+1_332-1)_(496+1_497-1)del
NM_000059.4(BRCA2):c.-39-1_-39del rs758732038
NM_000059.4(BRCA2):c.-40+2T>C rs1593879845
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.2279del (p.Leu760fs) rs886038071
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg) rs786201916
NM_000059.4(BRCA2):c.3222dup (p.Ser1075Ter)
NM_000059.4(BRCA2):c.3722_3723insA (p.Phe1241fs)
NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter) rs2137509604
NM_000059.4(BRCA2):c.476-1G>A rs397507340
NM_000059.4(BRCA2):c.4851dup (p.Asp1618Ter)
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.6787delinsTT (p.Val2263fs)
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile) rs80359062
NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe) rs80359094
NM_000059.4(BRCA2):c.9010_9013del (p.Lys3004fs)
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro) rs80359161
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter) rs80359230
NM_000061.3(BTK):c.119_120dup (p.Glu41fs)
NM_000061.3(BTK):c.121G>A (p.Glu41Lys) rs1057520045
NM_000061.3(BTK):c.1355T>C (p.Leu452Pro) rs2147427580
NM_000061.3(BTK):c.1511A>T (p.Asp504Val) rs193922125
NM_000061.3(BTK):c.1526T>C (p.Met509Thr) rs1569291644
NM_000061.3(BTK):c.1566_1566+9del
NM_000061.3(BTK):c.1635T>A (p.Tyr545Ter)
NM_000061.3(BTK):c.164C>A (p.Ser55Ter) rs1555980796
NM_000061.3(BTK):c.1673_1680del (p.Lys558fs) rs193922126
NM_000061.3(BTK):c.1685G>A (p.Arg562Gln)
NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter) rs1926380106
NM_000061.3(BTK):c.1716dup (p.Lys573fs) rs2147424879
NM_000061.3(BTK):c.1771dup (p.Tyr591fs)
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp) rs128621209
NM_000061.3(BTK):c.1889T>C (p.Met630Thr) rs128621210
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
NM_000061.3(BTK):c.1925C>T (p.Pro642Leu)
NM_000061.3(BTK):c.233del (p.Gln78fs) rs2147447513
NM_000061.3(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.3(BTK):c.36G>T (p.Lys12Asn) rs782519139
NM_000061.3(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.3(BTK):c.372G>T (p.Trp124Cys)
NM_000061.3(BTK):c.451C>T (p.Gln151Ter)
NM_000061.3(BTK):c.463T>G (p.Cys155Gly)
NM_000061.3(BTK):c.588+1G>T rs1569293252
NM_000061.3(BTK):c.588+2T>A rs1555978777
NM_000061.3(BTK):c.777-1G>A rs1603007942
NM_000061.3(BTK):c.777-2A>G rs193922129
NM_000061.3(BTK):c.799_806del (p.Asn267fs) rs1555978412
NM_000061.3(BTK):c.806del (p.Val269fs) rs1926614700
NM_000061.3(BTK):c.839+1G>C rs1569292649
NM_000061.3(BTK):c.840-1G>A rs193922131
NM_000061.3(BTK):c.842G>A (p.Trp281Ter) rs2147431031
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.3(BTK):c.894+1G>A rs1064793859
NM_000061.3(BTK):c.895-2A>G rs193922132
NM_000061.3(BTK):c.904G>A (p.Gly302Arg)
NM_000061.3(BTK):c.998A>G (p.His333Arg) rs193922133
NM_000063.6(C2):c.839_849del (p.Met280fs) rs1770220135
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.2061dup (p.Lys688fs) rs1599518940
NM_000064.4(C3):c.2531A>G (p.Gln844Arg) rs1599510478
NM_000064.4(C3):c.3489+2T>C
NM_000064.4(C3):c.373dup (p.Leu125fs) rs1337559480
NM_000064.4(C3):c.3813dup (p.Thr1272fs)
NM_000064.4(C3):c.3908G>A (p.Arg1303His) rs775015499
NM_000064.4(C3):c.640C>T (p.Pro214Ser) rs794729228
NM_000064.4(C3):c.75-1G>A
NM_000065.5(C6):c.1628_1629dup (p.Gln544fs)
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter) rs867425110
NM_000065.5(C6):c.2101C>A (p.Arg701=)
NM_000065.5(C6):c.2335_2336del (p.Gln779fs) rs771792933
NM_000065.5(C6):c.2406_2407del (p.Val802_Phe803insTer) rs749432203
NM_000065.5(C6):c.2624-1G>A
NM_000073.3(CD3G):c.213del (p.Lys71fs) rs570768621
NM_000073.3(CD3G):c.213dup (p.Trp72fs) rs570768621
NM_000073.3(CD3G):c.484-1G>A
NM_000073.3(CD3G):c.70_79+5del
NM_000073.3:c.70_80del
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.3(CD40LG):c.189del (p.Phe63fs) rs193922134
NM_000074.3(CD40LG):c.288+1G>A rs1569376229
NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter) rs2076113325
NM_000074.3(CD40LG):c.346G>T (p.Gly116Cys) rs2148552406
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr) rs1603321148
NM_000074.3(CD40LG):c.431G>A (p.Gly144Glu) rs886039326
NM_000074.3(CD40LG):c.439A>C (p.Thr147Pro)
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His) rs2076127133
NM_000074.3(CD40LG):c.515A>G (p.Tyr172Cys)
NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn) rs1569377829
NM_000074.3(CD40LG):c.634del (p.His212fs)
NM_000074.3(CD40LG):c.687T>A (p.Phe229Leu)
NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp)
NM_000074.3(CD40LG):c.761C>A (p.Thr254Lys) rs193922136
NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser) rs1057521128
NM_000074.3(CD40LG):c.770G>T (p.Gly257Val)
NM_000075.4(CDK4):c.70C>A (p.Arg24Ser) rs11547328
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000075.4(CDK4):c.71G>A (p.Arg24His) rs104894340
NM_000075.4(CDK4):c.71G>T (p.Arg24Leu) rs104894340
NM_000081.4(LYST):c.10095G>C (p.Lys3365Asn)
NM_000081.4(LYST):c.10100del (p.Lys3367fs)
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.10156del (p.Met3386fs)
NM_000081.4(LYST):c.1019del (p.Ser340fs)
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter) rs754616030
NM_000081.4(LYST):c.10411dup (p.Glu3471fs)
NM_000081.4(LYST):c.10443_10454delinsCC (p.Val3482fs)
NM_000081.4(LYST):c.10489C>T (p.Gln3497Ter)
NM_000081.4(LYST):c.1050del (p.Asn352fs)
NM_000081.4(LYST):c.10643T>A (p.Leu3548Ter)
NM_000081.4(LYST):c.10663_10691dup (p.Gln3564delinsHisLeuGlnTer)
NM_000081.4(LYST):c.10681C>T (p.Gln3561Ter)
NM_000081.4(LYST):c.10812del (p.Ile3604fs)
NM_000081.4(LYST):c.10813G>T (p.Glu3605Ter)
NM_000081.4(LYST):c.10883dup (p.Tyr3628Ter)
NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)
NM_000081.4(LYST):c.124del (p.Gly43fs)
NM_000081.4(LYST):c.1518T>G (p.Tyr506Ter)
NM_000081.4(LYST):c.1868del (p.Gln622_Leu623insTer)
NM_000081.4(LYST):c.192+1G>A
NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)
NM_000081.4(LYST):c.2275del (p.Ser759fs)
NM_000081.4(LYST):c.2341_2342del (p.Leu781fs)
NM_000081.4(LYST):c.2374_2375del (p.Asp792fs)
NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)
NM_000081.4(LYST):c.2437del (p.Arg813fs)
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
NM_000081.4(LYST):c.3170del (p.Lys1057fs)
NM_000081.4(LYST):c.3202C>T (p.Gln1068Ter)
NM_000081.4(LYST):c.3433del (p.His1145fs)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.3713-2A>C
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
NM_000081.4(LYST):c.4006+2T>C
NM_000081.4(LYST):c.4116+1G>A
NM_000081.4(LYST):c.4117-2A>G
NM_000081.4(LYST):c.4324_4325del (p.Ser1442fs)
NM_000081.4(LYST):c.484C>T (p.Gln162Ter)
NM_000081.4(LYST):c.4858C>T (p.Gln1620Ter)
NM_000081.4(LYST):c.4862+2T>A
NM_000081.4(LYST):c.4863-1G>C
NM_000081.4(LYST):c.4863-4G>T
NM_000081.4(LYST):c.4969G>T (p.Glu1657Ter)
NM_000081.4(LYST):c.5023+1G>A
NM_000081.4(LYST):c.5214+1G>C
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
NM_000081.4(LYST):c.5719A>G (p.Ile1907Val)
NM_000081.4(LYST):c.5772G>A (p.Trp1924Ter)
NM_000081.4(LYST):c.5923-1G>A
NM_000081.4(LYST):c.5923-2A>G
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
NM_000081.4(LYST):c.6050T>G (p.Leu2017Ter)
NM_000081.4(LYST):c.6254-1G>C
NM_000081.4(LYST):c.6616C>T (p.Gln2206Ter)
NM_000081.4(LYST):c.6720_6721del (p.His2240fs)
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
NM_000081.4(LYST):c.6882-1G>T
NM_000081.4(LYST):c.7010T>A (p.Leu2337Ter)
NM_000081.4(LYST):c.7045C>T (p.Gln2349Ter)
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
NM_000081.4(LYST):c.7136T>C (p.Leu2379Pro)
NM_000081.4(LYST):c.7291del (p.Leu2431fs)
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.772T>C (p.Cys258Arg)
NM_000081.4(LYST):c.7781-1G>T
NM_000081.4(LYST):c.8358+1G>C
NM_000081.4(LYST):c.8358+2T>C
NM_000081.4(LYST):c.8358+2T>G
NM_000081.4(LYST):c.8378del (p.Leu2793fs)
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
NM_000081.4(LYST):c.8443G>T (p.Glu2815Ter)
NM_000081.4(LYST):c.8613-2A>T
NM_000081.4(LYST):c.8768G>A (p.Trp2923Ter)
NM_000081.4(LYST):c.8801+1G>A
NM_000081.4(LYST):c.8802-2A>G
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
NM_000081.4(LYST):c.9044+1G>A
NM_000081.4(LYST):c.9200G>A (p.Trp3067Ter)
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter)
NM_000081.4(LYST):c.9475del (p.Asp3159fs)
NM_000081.4(LYST):c.9620_9621dup (p.Tyr3208fs)
NM_000081.4(LYST):c.9624C>A (p.Tyr3208Ter)
NM_000081.4(LYST):c.9626del (p.Lys3209fs)
NM_000081.4(LYST):c.9627+1G>A
NM_000081.4(LYST):c.9784+1G>T
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
NM_000081.4(LYST):c.98_105del (p.Glu33fs)
NM_000081.4(LYST):c.9925+1G>T
NM_000081.4(LYST):c.9925+2T>C
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
NM_000101.4(CYBA):c.128+2T>C rs1191361764
NM_000101.4(CYBA):c.129-1G>T rs1445023836
NM_000101.4(CYBA):c.166del (p.Arg56fs) rs1352931329
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.295_301del (p.Val99fs)
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.109+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.109+5G>C rs2148185111
NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)
NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs)
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)
NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu)
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+2T>G
NM_000116.5(TAFAZZIN):c.238+2_238+9del rs1603376938
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly)
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.284+5G>A
NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter)
NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer)
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.329_334del (p.Ser110_His111del)
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter)
NM_000116.5(TAFAZZIN):c.528_541+7del rs2068570435
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
NM_000116.5(TAFAZZIN):c.541+1G>T
NM_000116.5(TAFAZZIN):c.542-2A>G rs2068574381
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs)
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.609T>A (p.Cys203Ter)
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) rs727504431
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs) rs1569552936
NM_000116.5(TAFAZZIN):c.699+1G>T
NM_000116.5(TAFAZZIN):c.700-1del
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs)
NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter)
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) rs2068606445
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000116.5(TAFAZZIN):c.778-2A>G rs876661112
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs) rs1557194525
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) rs121917830
NM_000135.2(FANCA):c.1_2151+1del
NM_000135.2:c.523_2601del
NM_000135.2:c.894_2641del
NM_000135.4(FANCA):c.1006+1G>A
NM_000135.4(FANCA):c.1006+1G>T rs1555564436
NM_000135.4(FANCA):c.1007-2A>G rs2040110878
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter)
NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter)
NM_000135.4(FANCA):c.1070C>A (p.Ser357Ter) rs773687142
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1083+1G>A
NM_000135.4(FANCA):c.1083+1del
NM_000135.4(FANCA):c.1084-1G>T
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) rs752864343
NM_000135.4(FANCA):c.1162A>T (p.Arg388Ter) rs2040091746
NM_000135.4(FANCA):c.1165G>T (p.Val389Leu)
NM_000135.4(FANCA):c.1194del (p.Cys399fs) rs2040090995
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter)
NM_000135.4(FANCA):c.1225+2T>A
NM_000135.4(FANCA):c.1225+2T>G
NM_000135.4(FANCA):c.1226-1G>C rs1417768931
NM_000135.4(FANCA):c.1226-2A>C
NM_000135.4(FANCA):c.1231_1234del (p.Val411fs)
NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys)
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.1273dup (p.Asp425fs)
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter) rs1158456786
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro) rs1060501879
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg) rs2040074214
NM_000135.4(FANCA):c.1308G>C (p.Gln436His) rs1316078638
NM_000135.4(FANCA):c.1326del (p.Ser443fs)
NM_000135.4(FANCA):c.1340C>A (p.Ser447Ter)
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
NM_000135.4(FANCA):c.1360-2A>G
NM_000135.4(FANCA):c.1367T>C (p.Phe456Ser)
NM_000135.4(FANCA):c.1450G>T (p.Glu484Ter) rs2039845162
NM_000135.4(FANCA):c.1459dup (p.Arg487fs) rs2039844868
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter) rs1266348463
NM_000135.4(FANCA):c.1470+1G>A rs1555556175
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1476_1477del (p.Ile493fs) rs1555554788
NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser) rs1057521855
NM_000135.4(FANCA):c.1509C>G (p.Tyr503Ter) rs1598136954
NM_000135.4(FANCA):c.155_161del (p.Arg52fs)
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.1567-20A>G rs775154397
NM_000135.4(FANCA):c.1585G>T (p.Gly529Ter) rs2039768709
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter) rs769047348
NM_000135.4(FANCA):c.1627-2A>G rs2143433058
NM_000135.4(FANCA):c.1630del (p.His544fs)
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter) rs1555580427
NM_000135.4(FANCA):c.1654G>T (p.Glu552Ter)
NM_000135.4(FANCA):c.1683_1689del (p.Gly562fs) rs2039643136
NM_000135.4(FANCA):c.16dup (p.Val6fs)
NM_000135.4(FANCA):c.1715+1G>A
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1715+3_1715+13del rs2143432038
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.1796_1800dup (p.Val601fs) rs1555552006
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1811_1812dup (p.Glu605Ter)
NM_000135.4(FANCA):c.1822A>T (p.Lys608Ter) rs938278864
NM_000135.4(FANCA):c.1826+2T>A rs2039603867
NM_000135.4(FANCA):c.1826+2T>C
NM_000135.4(FANCA):c.1827-2A>G rs2143393518
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs) rs2041095238
NM_000135.4(FANCA):c.1844del (p.Pro615fs)
NM_000135.4(FANCA):c.1844dup (p.Ser616fs) rs779375100
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs) rs2143393148
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter)
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.189+2T>A rs2041094594
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.190-2_203del rs2143711687
NM_000135.4(FANCA):c.1900+1G>T rs1598120768
NM_000135.4(FANCA):c.1901-1G>A rs1485075318
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter) rs2143367693
NM_000135.4(FANCA):c.1951G>T (p.Gly651Ter) rs140785340
NM_000135.4(FANCA):c.1952del (p.Gly651fs)
NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter)
NM_000135.4(FANCA):c.1A>C (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.2001dup (p.Ser668fs) rs2143366568
NM_000135.4(FANCA):c.2014+1G>A
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2015-1G>A rs1555548632
NM_000135.4(FANCA):c.2015-1G>T rs1555548632
NM_000135.4(FANCA):c.2015-2A>C rs2143351760
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter) rs17232973
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs) rs2143351554
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs)
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer) rs2143711627
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs) rs754104046
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
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.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs)
NM_000135.4(FANCA):c.2222+1G>C rs775388912
NM_000135.4(FANCA):c.2222+1G>T rs775388912
NM_000135.4(FANCA):c.2223-2A>T
NM_000135.4(FANCA):c.2234G>A (p.Trp745Ter) rs1338018512
NM_000135.4(FANCA):c.2247del (p.Phe749fs)
NM_000135.4(FANCA):c.226A>T (p.Lys76Ter)
NM_000135.4(FANCA):c.2314del (p.Gln772fs)
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.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_000135.4(FANCA):c.2426delinsACTGA (p.Gly809delinsAspTer)
NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter) rs2039261844
NM_000135.4(FANCA):c.2489T>A (p.Leu830Ter) rs772477788
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter) rs2039260856
NM_000135.4(FANCA):c.2504+1G>C rs2039260545
NM_000135.4(FANCA):c.2505-1G>C rs1438990537
NM_000135.4(FANCA):c.2505-2A>C
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2562_2564delinsGA (p.Asp854fs)
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2594_2595del (p.Ile865fs)
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2602-2A>C rs1555545592
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2605C>G (p.Gln869Glu)
NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter)
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer) rs1555545553
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln) rs1017086086
NM_000135.4(FANCA):c.2647_2648del (p.Leu883fs)
NM_000135.4(FANCA):c.2650del (p.Ser884fs)
NM_000135.4(FANCA):c.2664del (p.Ala889fs)
NM_000135.4(FANCA):c.2667del (p.Ser890fs) rs1555545517
NM_000135.4(FANCA):c.2680A>T (p.Arg894Ter)
NM_000135.4(FANCA):c.2685del (p.Leu896fs)
NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe) rs1216426444
NM_000135.4(FANCA):c.2728_2731del (p.Leu910fs)
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.2762A>T (p.Lys921Ile) rs879255255
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) rs1555545421
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2779-1G>T rs2143261385
NM_000135.4(FANCA):c.283+1G>A rs1232171121
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.283+1_283+11del rs2143710613
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
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.2848G>T (p.Glu950Ter) rs2038967261
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852+1dup
NM_000135.4(FANCA):c.2852+2T>G rs766875860
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2909C>A (p.Ser970Ter)
NM_000135.4(FANCA):c.2910del (p.Gly972fs) rs1278836130
NM_000135.4(FANCA):c.2915del (p.Gly972fs)
NM_000135.4(FANCA):c.2981+1G>A rs1555542860
NM_000135.4(FANCA):c.2981+1G>T
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter)
NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs) rs1555540048
NM_000135.4(FANCA):c.2993dup (p.Tyr998Ter)
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
NM_000135.4(FANCA):c.2T>A (p.Met1Lys) rs769479800
NM_000135.4(FANCA):c.3017T>A (p.Leu1006Ter) rs2038618125
NM_000135.4(FANCA):c.301C>T (p.Gln101Ter)
NM_000135.4(FANCA):c.3043_3051delinsCCTC (p.Glu1015fs)
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.306del (p.Ser103fs)
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val) rs1567603987
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter) rs147176389
NM_000135.4(FANCA):c.3091del (p.Gln1031fs) rs2143139861
NM_000135.4(FANCA):c.3096del (p.Asp1033fs)
NM_000135.4(FANCA):c.3133G>T (p.Glu1045Ter) rs2038519770
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer) rs2143139166
NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly) rs753063086
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln) rs1429943036
NM_000135.4(FANCA):c.3184_3186delinsTGCC (p.Gly1062fs) rs2143138507
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter) rs776391208
NM_000135.4(FANCA):c.3208del (p.Gln1070fs)
NM_000135.4(FANCA):c.3217_3218del (p.Arg1073fs)
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3240-1G>A rs2038478071
NM_000135.4(FANCA):c.3240-2A>G rs2038478110
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter) rs1450151864
NM_000135.4(FANCA):c.32del (p.Ser11fs)
NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter)
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro) rs752837228
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly) rs2038474528
NM_000135.4(FANCA):c.337_338del (p.Ala114fs) rs2143680554
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter) rs1439817346
NM_000135.4(FANCA):c.3392C>A (p.Thr1131Asn)
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile) rs2143109078
NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs)
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs) rs1555537347
NM_000135.4(FANCA):c.3408+1G>C rs1567601557
NM_000135.4(FANCA):c.3409-25_3418del
NM_000135.4(FANCA):c.3409-2A>G
NM_000135.4(FANCA):c.3409-3_3417del
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)
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.3500T>A (p.Leu1167Ter) rs2038398856
NM_000135.4(FANCA):c.3504_3513+55del
NM_000135.4(FANCA):c.3513+1G>C
NM_000135.4(FANCA):c.3514-1G>C
NM_000135.4(FANCA):c.3514-1G>T rs2143088468
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter)
NM_000135.4(FANCA):c.3563dup (p.His1188fs)
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter) rs1390620949
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter) rs1381684916
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3610_3613del (p.Arg1204fs) rs1555536361
NM_000135.4(FANCA):c.3626+1G>C rs34885858
NM_000135.4(FANCA):c.3626+1G>T rs34885858
NM_000135.4(FANCA):c.3626+2T>G
NM_000135.4(FANCA):c.3627-2A>G
NM_000135.4(FANCA):c.3627-3_3627-2del rs2062172458
NM_000135.4(FANCA):c.3640G>T (p.Glu1214Ter) rs2062172011
NM_000135.4(FANCA):c.364G>T (p.Gly122Ter) rs2040857662
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) rs1555535527
NM_000135.4(FANCA):c.3745del (p.Leu1249fs) rs1555535472
NM_000135.4(FANCA):c.3753C>A (p.Cys1251Ter) rs752126515
NM_000135.4(FANCA):c.3759_3762del (p.Glu1254fs)
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.3763_3765delinsC (p.Glu1255fs)
NM_000135.4(FANCA):c.3765+1G>A
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.3792del (p.Ser1264_Leu1265insTer) rs587778319
NM_000135.4(FANCA):c.3828+1G>A rs1432988639
NM_000135.4(FANCA):c.3828+1del
NM_000135.4(FANCA):c.3829-71_3868del
NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter)
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3890dup (p.Arg1298fs) rs1555534060
NM_000135.4(FANCA):c.3900_3901del (p.Ser1301fs)
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs) rs2151714613
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
NM_000135.4(FANCA):c.3934+1G>A rs2062087795
NM_000135.4(FANCA):c.3934+2T>C rs771775516
NM_000135.4(FANCA):c.3935-1G>A rs1555533693
NM_000135.4(FANCA):c.3935-1G>T rs1555533693
NM_000135.4(FANCA):c.3937del (p.Leu1313fs)
NM_000135.4(FANCA):c.3955dup (p.Leu1319fs)
NM_000135.4(FANCA):c.3973del (p.Asp1325fs) rs2151712879
NM_000135.4(FANCA):c.4010+1G>A rs2062067810
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.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs) rs1567593047
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter) rs1336834251
NM_000135.4(FANCA):c.4100_4167+2del
NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter)
NM_000135.4(FANCA):c.4164_4167+13del
NM_000135.4(FANCA):c.4167+1G>A
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro) rs149851163
NM_000135.4(FANCA):c.4231_4247del (p.Pro1411fs)
NM_000135.4(FANCA):c.423_426+14del rs2143678941
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter) rs2040853392
NM_000135.4(FANCA):c.4254_4255delinsC (p.Ala1419fs)
NM_000135.4(FANCA):c.4257_4260+16delinsTTCTCA
NM_000135.4(FANCA):c.4257dup (p.Glu1420fs) rs1555532946
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter) rs984285795
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.4260+1dup rs1555532944
NM_000135.4(FANCA):c.4260+2T>A rs1555532943
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.427-1G>A
NM_000135.4(FANCA):c.427-2A>G rs765684774
NM_000135.4(FANCA):c.427-3C>G rs2040847223
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.4285_4288dup (p.Pro1430fs) rs2049528619
NM_000135.4(FANCA):c.449_450del (p.Glu150fs)
NM_000135.4(FANCA):c.467T>A (p.Leu156Ter) rs1419169954
NM_000135.4(FANCA):c.513dup (p.Lys172fs) rs1555574913
NM_000135.4(FANCA):c.520C>T (p.Gln174Ter) rs1454055874
NM_000135.4(FANCA):c.522+2T>C rs2143677013
NM_000135.4(FANCA):c.522+2T>G
NM_000135.4(FANCA):c.523-1G>C
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000135.4(FANCA):c.523-1del
NM_000135.4(FANCA):c.523-2A>G rs746518509
NM_000135.4(FANCA):c.539_540dup (p.Ala181fs)
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.598del (p.His200fs)
NM_000135.4(FANCA):c.658C>T (p.Gln220Ter) rs775697743
NM_000135.4(FANCA):c.709+2T>C rs1555571116
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.710-10G>A rs2040524006
NM_000135.4(FANCA):c.710-1G>A
NM_000135.4(FANCA):c.710-1G>C rs1388128874
NM_000135.4(FANCA):c.710-1G>T
NM_000135.4(FANCA):c.714dup (p.Val239fs)
NM_000135.4(FANCA):c.734_756delinsA (p.Arg245fs)
NM_000135.4(FANCA):c.79+1G>C rs1483028018
NM_000135.4(FANCA):c.793-2A>G
NM_000135.4(FANCA):c.793-2A>T
NM_000135.4(FANCA):c.80-1G>T rs751076878
NM_000135.4(FANCA):c.80-2A>G
NM_000135.4(FANCA):c.80-99_105del
NM_000135.4(FANCA):c.826+2T>C rs2143585058
NM_000135.4(FANCA):c.826+5_826+9del rs797045570
NM_000135.4(FANCA):c.827-1G>A
NM_000135.4(FANCA):c.827-1G>C rs753728435
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000135.4(FANCA):c.832dup (p.Leu278fs)
NM_000135.4(FANCA):c.83del (p.Gly28fs)
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.893+1G>C
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.94del (p.Arg32fs)
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.971T>C (p.Leu324Pro)
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000135.4(FANCA):c.976C>T (p.Gln326Ter)
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000135.4(FANCA):c.989_995del (p.His330fs) rs1555564451
NM_000135.4:c.1901_3240del
NM_000135.4:c.710_894del
NM_000136.3(FANCC):c.1029C>A (p.Tyr343Ter) rs2072504418
NM_000136.3(FANCC):c.1029C>G (p.Tyr343Ter)
NM_000136.3(FANCC):c.1037dup (p.Ser347fs) rs1057516248
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs) rs1064795597
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1072+1G>A rs1554830789
NM_000136.3(FANCC):c.1072+2T>A
NM_000136.3(FANCC):c.1073-1G>C rs1554830249
NM_000136.3(FANCC):c.1073-2A>G
NM_000136.3(FANCC):c.1084G>T (p.Gly362Ter) rs2072245226
NM_000136.3(FANCC):c.1092G>A (p.Trp364Ter)
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs) rs1057516919
NM_000136.3(FANCC):c.1114T>C (p.Ser372Pro)
NM_000136.3(FANCC):c.1144del (p.Gln382fs) rs1057516313
NM_000136.3(FANCC):c.1151_1152del (p.His384fs) rs1554830220
NM_000136.3(FANCC):c.1155-1G>A rs1554829575
NM_000136.3(FANCC):c.1155-1G>C rs1554829575
NM_000136.3(FANCC):c.1155-2A>G rs1343170313
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs) rs1554829561
NM_000136.3(FANCC):c.117del (p.Gln40fs) rs1057517147
NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter) rs1554829555
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter) rs2071939263
NM_000136.3(FANCC):c.1228del (p.Gln410fs)
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter) rs200719554
NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)
NM_000136.3(FANCC):c.125dup (p.Glu43fs)
NM_000136.3(FANCC):c.1271G>A (p.Trp424Ter)
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1297del (p.Arg433fs)
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs) rs1588353886
NM_000136.3(FANCC):c.1308del (p.Arg436fs)
NM_000136.3(FANCC):c.1329+1del
NM_000136.3(FANCC):c.1330-2A>C rs2134456820
NM_000136.3(FANCC):c.1330-2A>G
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.1430_1431del (p.Thr477fs) rs1588029220
NM_000136.3(FANCC):c.1453del (p.Gln485fs)
NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter) rs1057516963
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter) rs1057516488
NM_000136.3(FANCC):c.1533+1G>T rs753885687
NM_000136.3(FANCC):c.1533+2T>C rs1057517170
NM_000136.3(FANCC):c.1534-1G>T rs1364238660
NM_000136.3(FANCC):c.1534-2A>G rs1554827166
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs) rs1554827159
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs) rs1554827136
NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter) rs1057516455
NM_000136.3(FANCC):c.163del (p.Met55fs)
NM_000136.3(FANCC):c.165+1del rs1554858249
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.169del (p.Ser57fs)
NM_000136.3(FANCC):c.177_178del (p.Val60fs)
NM_000136.3(FANCC):c.220del (p.Ala74fs) rs1588350264
NM_000136.3(FANCC):c.225T>A (p.Cys75Ter)
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter) rs1189888124
NM_000136.3(FANCC):c.249T>A (p.Tyr83Ter)
NM_000136.3(FANCC):c.250+1G>A rs2136090597
NM_000136.3(FANCC):c.250+1G>T
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.265dup (p.Ile89fs)
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter) rs1830584796
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
NM_000136.3(FANCC):c.282_283del (p.Cys95fs)
NM_000136.3(FANCC):c.284_293del (p.Cys95fs) rs2136049324
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.2T>C (p.Met1Thr) rs2136102345
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter) rs1057516384
NM_000136.3(FANCC):c.315_316insCCCG (p.Gly106fs)
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.323C>A (p.Ser108Ter) rs1830581816
NM_000136.3(FANCC):c.345+1del rs1057516247
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.346-1G>C
NM_000136.3(FANCC):c.346-1G>T rs1484503633
NM_000136.3(FANCC):c.34del (p.Tyr12fs)
NM_000136.3(FANCC):c.353T>A (p.Leu118Ter) rs1825725461
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000136.3(FANCC):c.362_363del (p.Ile121fs) rs1588220728
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.387_390del (p.Glu130fs)
NM_000136.3(FANCC):c.3G>T (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.406C>T (p.Gln136Ter)
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.456+1G>A rs2135587402
NM_000136.3(FANCC):c.457-1G>T rs1057516917
NM_000136.3(FANCC):c.457-2A>G
NM_000136.3(FANCC):c.460del (p.Val154fs) rs1825653076
NM_000136.3(FANCC):c.464T>A (p.Leu155Ter) rs1825652774
NM_000136.3(FANCC):c.485dup (p.Glu163fs) rs1554842611
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.494_495del (p.His165fs) rs1564719151
NM_000136.3(FANCC):c.507del (p.Phe169fs) rs1588218493
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)
NM_000136.3(FANCC):c.547del (p.Leu183fs)
NM_000136.3(FANCC):c.560del (p.Cys187fs)
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.640dup (p.Ile214fs) rs1057517203
NM_000136.3(FANCC):c.661G>T (p.Glu221Ter) rs1830059125
NM_000136.3(FANCC):c.683dup (p.Leu228fs)
NM_000136.3(FANCC):c.686+1G>C rs1057517125
NM_000136.3(FANCC):c.686+1G>T rs1057517125
NM_000136.3(FANCC):c.686+5G>A rs1064794691
NM_000136.3(FANCC):c.687-1G>A rs1588134748
NM_000136.3(FANCC):c.705del (p.Met236fs) rs2135168243
NM_000136.3(FANCC):c.70C>T (p.Gln24Ter) rs2136101386
NM_000136.3(FANCC):c.745_749del (p.Pro248_Ser249insTer)
NM_000136.3(FANCC):c.793G>T (p.Glu265Ter) rs1827526425
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) rs776054094
NM_000136.3(FANCC):c.822C>A (p.Cys274Ter)
NM_000136.3(FANCC):c.831del (p.Asp278fs) rs1057516792
NM_000136.3(FANCC):c.836C>G (p.Ser279Ter)
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.883dup (p.Asp295fs) rs1826007748
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.897-1G>A rs1588101086
NM_000136.3(FANCC):c.907del (p.Leu303fs)
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter) rs1825775052
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_000136.3(FANCC):c.996G>A (p.Gln332=) rs1825770865
NM_000138.4(FBN1):c.4890_4891delinsTG (p.Gln1630_Cys1631delinsHisGly) rs1566903931
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1415dup (p.Tyr472Ter)
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg) rs2141306513
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser) rs2141295239
NM_000138.5(FBN1):c.3337+1dup rs1566909762
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.407G>T (p.Cys136Phe)
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr) rs397515817
NM_000138.5(FBN1):c.5006_5013del (p.Asn1669fs)
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter) rs71467648
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser) rs363810
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000178.3(GSS):c.1113_1132del20 rs2147120336
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.1192dup (p.Met398fs)
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_000178.4(GSS):c.809A>G (p.Tyr270Cys)
NM_000186.4(CFH):c.1154G>T (p.Cys385Phe)
NM_000186.4(CFH):c.1520-2A>G
NM_000186.4(CFH):c.1690T>C (p.Cys564Arg)
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000186.4(CFH):c.2609G>A (p.Cys870Tyr)
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.4(CFH):c.2975T>G (p.Leu992Ter)
NM_000186.4(CFH):c.3173_3182del (p.Ala1057_Tyr1058insTer)
NM_000186.4(CFH):c.3472dup (p.Ser1158fs)
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser) rs1573087200
NM_000186.4(CFH):c.3546G>C (p.Arg1182Ser) rs1653042358
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe) rs2149118712
NM_000186.4(CFH):c.3644G>A (p.Arg1215Gln)
NM_000186.4(CFH):c.3644G>T (p.Arg1215Leu)
NM_000186.4(CFH):c.47del (p.Cys16fs)
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000204.5(CFI):c.1006C>T (p.Arg336Ter) rs759676430
NM_000204.5(CFI):c.1118G>C (p.Cys373Ser) rs1579173999
NM_000204.5(CFI):c.1169dup (p.Tyr390Ter)
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter) rs752671716
NM_000204.5(CFI):c.1487C>T (p.Ser496Phe)
NM_000204.5(CFI):c.1571A>G (p.Asp524Gly)
NM_000204.5(CFI):c.1576G>T (p.Gly526Ter)
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter) rs2126178088
NM_000204.5(CFI):c.658+1G>A
NM_000206.3(IL2RG):c.100G>T (p.Glu34Ter) rs1556331272
NM_000206.3(IL2RG):c.116-1G>A rs2147751144
NM_000206.3(IL2RG):c.116-2A>G rs2147751146
NM_000206.3(IL2RG):c.175G>T (p.Glu59Ter) rs2092262517
NM_000206.3(IL2RG):c.181C>T (p.Gln61Ter) rs1569480082
NM_000206.3(IL2RG):c.184T>A (p.Cys62Ser) rs1602289649
NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter) rs2147750927
NM_000206.3(IL2RG):c.235_236delinsT (p.Glu79fs)
NM_000206.3(IL2RG):c.257C>A (p.Thr86Asn)
NM_000206.3(IL2RG):c.269+1G>T rs2092262300
NM_000206.3(IL2RG):c.270-1G>T rs193922346
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys) rs193922347
NM_000206.3(IL2RG):c.340G>A (p.Gly114Ser)
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.359_360insT (p.Lys120fs) rs2092261347
NM_000206.3(IL2RG):c.374A>G (p.Tyr125Cys) rs2092261313
NM_000206.3(IL2RG):c.395T>A (p.Leu132His) rs2092261278
NM_000206.3(IL2RG):c.41T>C (p.Leu14Pro)
NM_000206.3(IL2RG):c.437T>C (p.Leu146Pro)
NM_000206.3(IL2RG):c.43C>T (p.Gln15Ter) rs1057517747
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000206.3(IL2RG):c.465G>A (p.Trp155Ter) rs1569479994
NM_000206.3(IL2RG):c.467C>T (p.Ala156Val) rs1057521062
NM_000206.3(IL2RG):c.47T>C (p.Leu16Pro) rs879253742
NM_000206.3(IL2RG):c.480_481del (p.Leu162fs)
NM_000206.3(IL2RG):c.481del (p.Thr161fs)
NM_000206.3(IL2RG):c.485T>G (p.Leu162Arg) rs2092260648
NM_000206.3(IL2RG):c.489_490del (p.His163fs)
NM_000206.3(IL2RG):c.511G>T (p.Glu171Ter)
NM_000206.3(IL2RG):c.515T>A (p.Leu172Gln)
NM_000206.3(IL2RG):c.537_538del (p.Asn180fs)
NM_000206.3(IL2RG):c.545G>A (p.Cys182Tyr) rs1064794027
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.662T>C (p.Phe221Ser) rs193922349
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.681del (p.Phe227fs)
NM_000206.3(IL2RG):c.692G>A (p.Cys231Tyr)
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg) rs1569479909
NM_000206.3(IL2RG):c.695G>T (p.Gly232Val) rs2147748189
NM_000206.3(IL2RG):c.710G>A (p.Trp237Ter) rs193922350
NM_000206.3(IL2RG):c.715G>T (p.Glu239Ter)
NM_000206.3(IL2RG):c.74del (p.Thr25fs) rs2147751859
NM_000206.3(IL2RG):c.758-2A>G rs2147747509
NM_000206.3(IL2RG):c.854+2T>C rs2147747293
NM_000206.3(IL2RG):c.924G>A (p.Ser308=) rs2092255386
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000211.5(ITGB2):c.120del (p.Gly42fs)
NM_000211.5(ITGB2):c.1835G>T (p.Cys612Phe) rs2083749716
NM_000211.5(ITGB2):c.186C>A (p.Cys62Ter)
NM_000211.5(ITGB2):c.1959_1960insTC (p.Asn654fs) rs1568879914
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter) rs1464015799
NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter) rs772471533
NM_000211.5(ITGB2):c.393T>A (p.Tyr131Ter)
NM_000211.5(ITGB2):c.59-1G>A
NM_000211.5(ITGB2):c.706G>A (p.Gly236Arg) rs483352814
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
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_000211.5(ITGB2):c.994-1G>C rs1293268696
NM_000215.4(JAK3):c.1106T>C (p.Leu369Pro)
NM_000215.4(JAK3):c.115dup (p.Gln39fs)
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.1442-2A>G
NM_000215.4(JAK3):c.1503G>C (p.Gln501His) rs201283129
NM_000215.4(JAK3):c.1583G>A (p.Gly528Asp)
NM_000215.4(JAK3):c.1715C>T (p.Ala572Val) rs121913504
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp) rs193922361
NM_000215.4(JAK3):c.175A>T (p.Lys59Ter)
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser) rs886039394
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.1915-11G>A
NM_000215.4(JAK3):c.1915-1G>A
NM_000215.4(JAK3):c.1970G>A (p.Arg657Gln) rs758959409
NM_000215.4(JAK3):c.2143G>A (p.Val715Ile) rs1057520020
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.260T>C (p.Ile87Thr) rs1057519770
NM_000215.4(JAK3):c.2652C>T (p.Val884=) rs2094216237
NM_000215.4(JAK3):c.2670C>G (p.Ser890Arg)
NM_000215.4(JAK3):c.2680+89G>A
NM_000215.4(JAK3):c.2683_2704del (p.Arg895fs) rs1555743321
NM_000215.4(JAK3):c.2743C>T (p.Gln915Ter)
NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)
NM_000215.4(JAK3):c.2806-2A>C
NM_000215.4(JAK3):c.2978+1G>C
NM_000215.4(JAK3):c.3055G>A (p.Glu1019Lys)
NM_000215.4(JAK3):c.308+2T>C
NM_000215.4(JAK3):c.3096+1G>T
NM_000215.4(JAK3):c.3103del (p.Leu1035fs) rs1424732031
NM_000215.4(JAK3):c.420+2T>C
NM_000215.4(JAK3):c.437T>G (p.Val146Gly)
NM_000215.4(JAK3):c.678_679del (p.Cys227fs) rs193922364
NM_000222.3(KIT):c.1675G>A (p.Val559Ile) rs121913520
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2459A>T (p.Asp820Val) rs121913682
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.590C>T (p.Ser197Leu) rs2109674601
NM_000234.3(LIG1):c.2444del (p.Leu815fs)
NM_000243.2(MEFV):c.[2084A>G];[2230G>T]
NM_000243.2:c.(?_911)_(1356_?)del
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.1506_1507dup (p.Ser503fs) rs751375381
NM_000243.3(MEFV):c.1597_1598dup (p.Asp533fs) rs1179528365
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs) rs1355225244
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.590del (p.Gly197fs)
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg) rs104895127
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs) rs104895138
NM_000246.4(CIITA):c.1415_1421del (p.Leu472fs)
NM_000246.4(CIITA):c.1962dup (p.Gly655fs) rs778982759
NM_000246.4(CIITA):c.200-1G>C
NM_000246.4(CIITA):c.2657+1G>A rs2039309312
NM_000246.4(CIITA):c.2698C>T (p.Gln900Ter)
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.338dup (p.Leu114fs) rs1596513253
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_000250.2(MPO):c.1711C>T (p.Arg571Ter)
NM_000250.2(MPO):c.402G>A (p.Trp134Ter)
NM_000250.2(MPO):c.[1281del];[518A>G]
NM_000250.2(MPO):c.[2031-2A>C];[752T>C]
NM_000265.7(NCF1):c.285_288dup (p.Tyr97fs) rs1584370623
NM_000270.4(PNP):c.520G>C (p.Ala174Pro) rs104894454
NM_000270.4(PNP):c.601G>T (p.Glu201Ter)
NM_000271.4(NPC1):c.[2213C>A];[3234_3237dupATTT]
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs) rs1057516950
NM_000271.5(NPC1):c.1070C>A (p.Ser357Ter) rs1555637232
NM_000271.5(NPC1):c.1092T>A (p.Cys364Ter) rs2058953311
NM_000271.5(NPC1):c.1114_1115insT (p.Arg372fs) rs2145457097
NM_000271.5(NPC1):c.1133_1161del (p.Val378fs) rs1555637164
NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter) rs794727897
NM_000271.5(NPC1):c.114_122del (p.Lys38_Tyr40del) rs1599011473
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.1182C>A (p.Tyr394Ter)
NM_000271.5(NPC1):c.1189C>T (p.Gln397Ter)
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1286T>G (p.Val429Gly)
NM_000271.5(NPC1):c.1293del (p.Phe431fs) rs2145455429
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter) rs750292546
NM_000271.5(NPC1):c.1327-1G>A rs1057516813
NM_000271.5(NPC1):c.1327-1G>C rs1057516813
NM_000271.5(NPC1):c.1327-2dup rs1555636712
NM_000271.5(NPC1):c.1337T>A (p.Leu446Ter) rs2058929021
NM_000271.5(NPC1):c.1339C>A (p.Gln447Lys)
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter) rs1057517077
NM_000271.5(NPC1):c.1348dup (p.Ile450fs)
NM_000271.5(NPC1):c.1371T>A (p.Tyr457Ter)
NM_000271.5(NPC1):c.1420C>G (p.Pro474Ala)
NM_000271.5(NPC1):c.1433A>C (p.Asn478Thr) rs2145447716
NM_000271.5(NPC1):c.1436G>C (p.Cys479Ser)
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter) rs1555642296
NM_000271.5(NPC1):c.1454_1459del (p.Leu485_Asn486del)
NM_000271.5(NPC1):c.1510_1512del (p.Phe504del)
NM_000271.5(NPC1):c.1534C>T (p.His512Tyr)
NM_000271.5(NPC1):c.1550T>A (p.Val517Glu) rs2145446753
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.1612G>C (p.Gly538Arg) rs2145433298
NM_000271.5(NPC1):c.1615G>A (p.Gly539Arg)
NM_000271.5(NPC1):c.1619C>G (p.Pro540Arg)
NM_000271.5(NPC1):c.1627C>T (p.Pro543Ser) rs2145433190
NM_000271.5(NPC1):c.1642G>T (p.Gly548Ter)
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr) rs201156397
NM_000271.5(NPC1):c.1711del (p.Tyr571fs) rs1057517455
NM_000271.5(NPC1):c.1731_1737del (p.Gln578fs)
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
NM_000271.5(NPC1):c.1747T>G (p.Trp583Gly)
NM_000271.5(NPC1):c.1757+1G>A
NM_000271.5(NPC1):c.1758-3_1761del
NM_000271.5(NPC1):c.1761del (p.Phe587fs) rs1057517197
NM_000271.5(NPC1):c.1780_1782del (p.Tyr594del)
NM_000271.5(NPC1):c.180+1G>C rs2059231880
NM_000271.5(NPC1):c.180+1G>T
NM_000271.5(NPC1):c.1800del (p.Ile601fs) rs483352879
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter) rs2059213874
NM_000271.5(NPC1):c.1843C>A (p.Arg615Ser) rs745777805
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) 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.1918G>A (p.Gly640Arg) rs2058768195
NM_000271.5(NPC1):c.1920del (p.His641fs) rs886042270
NM_000271.5(NPC1):c.1947+1G>A rs1555634690
NM_000271.5(NPC1):c.1947+2T>A rs764472245
NM_000271.5(NPC1):c.1947+2T>G rs764472245
NM_000271.5(NPC1):c.1948-2A>T rs1555634513
NM_000271.5(NPC1):c.1990G>C (p.Val664Leu) rs376213990
NM_000271.5(NPC1):c.1996_1997del (p.Ser666fs)
NM_000271.5(NPC1):c.1A>G (p.Met1Val) rs1057517005
NM_000271.5(NPC1):c.2027G>T (p.Ser676Ile)
NM_000271.5(NPC1):c.2035_2036delinsT (p.Gly679fs)
NM_000271.5(NPC1):c.2044_2045insGTCATACACATCTG (p.Leu682fs)
NM_000271.5(NPC1):c.2046_2047del (p.Leu682fs)
NM_000271.5(NPC1):c.2053A>C (p.Ile685Leu)
NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr) rs483352888
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln) rs1555634422
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu) rs1555634422
NM_000271.5(NPC1):c.2072dup (p.Phe692fs)
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
NM_000271.5(NPC1):c.2092G>T (p.Gly698Ter) rs2058754064
NM_000271.5(NPC1):c.2108T>C (p.Phe703Ser) rs2058753693
NM_000271.5(NPC1):c.2131-2_2131del rs1555634236
NM_000271.5(NPC1):c.2134G>A (p.Asp712Asn)
NM_000271.5(NPC1):c.2134G>T (p.Asp712Tyr)
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
NM_000271.5(NPC1):c.2174del (p.Gly725fs)
NM_000271.5(NPC1):c.2179del (p.Val727fs) rs2145394955
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.2230_2231del (p.Val744fs) rs483352882
NM_000271.5(NPC1):c.2245+1G>A
NM_000271.5(NPC1):c.2246-1G>A
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.2383_2384del (p.Leu795fs)
NM_000271.5(NPC1):c.2434del (p.Ala812fs)
NM_000271.5(NPC1):c.2451_2454del (p.Leu817fs) rs1555633637
NM_000271.5(NPC1):c.2489T>C (p.Leu830Pro)
NM_000271.5(NPC1):c.2514+1G>A
NM_000271.5(NPC1):c.2519C>A (p.Ala840Glu) rs2145378239
NM_000271.5(NPC1):c.2522T>A (p.Ile841Lys)
NM_000271.5(NPC1):c.2525T>C (p.Phe842Ser)
NM_000271.5(NPC1):c.2526T>A (p.Phe842Leu)
NM_000271.5(NPC1):c.2531dup (p.Val845fs) rs2145378067
NM_000271.5(NPC1):c.2567T>C (p.Val856Ala)
NM_000271.5(NPC1):c.2575G>T (p.Gly859Ter) rs2058698654
NM_000271.5(NPC1):c.2579T>A (p.Leu860Ter) rs2058698544
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.2625T>G (p.Tyr875Ter) rs1555633361
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu) rs1169032037
NM_000271.5(NPC1):c.2670C>A (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.2683dup (p.Glu895fs) rs1555633326
NM_000271.5(NPC1):c.2695T>C (p.Tyr899His)
NM_000271.5(NPC1):c.269C>G (p.Pro90Arg)
NM_000271.5(NPC1):c.2712del (p.Gln905fs) rs1555633309
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000271.5(NPC1):c.2742C>A (p.Cys914Ter) rs2058687419
NM_000271.5(NPC1):c.2758G>A (p.Val920Met)
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.2764C>T (p.Gln922Ter) rs786204641
NM_000271.5(NPC1):c.2770T>C (p.Phe924Leu)
NM_000271.5(NPC1):c.2775del (p.Asn925fs) rs1057516603
NM_000271.5(NPC1):c.2795+56C>T rs2058685029
NM_000271.5(NPC1):c.2796-2A>T
NM_000271.5(NPC1):c.2818T>C (p.Ser940Pro)
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.2844C>G (p.Asp948Glu)
NM_000271.5(NPC1):c.2871T>A (p.Cys957Ter)
NM_000271.5(NPC1):c.2882_2897delinsG (p.Asn961_Phe966delinsSer)
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter) rs786204586
NM_000271.5(NPC1):c.2901C>A (p.Cys967Ter) rs2058679233
NM_000271.5(NPC1):c.2907_2908dup (p.Ser970fs) rs761910746
NM_000271.5(NPC1):c.2911+1del rs1555633118
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.2953_2954insT (p.Glu985fs) rs2145366898
NM_000271.5(NPC1):c.2965_2966del (p.Arg989fs) rs1555632977
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp) rs1555632971
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.29_30insGTCTCTTATACACACTG (p.Leu11fs)
NM_000271.5(NPC1):c.3017del (p.Asn1006fs)
NM_000271.5(NPC1):c.3026_3027del (p.Pro1009fs)
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.3042-2del rs797044431
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.3136C>T (p.Gln1046Ter) rs1446718670
NM_000271.5(NPC1):c.3141_3147delinsAG (p.Ser1048fs)
NM_000271.5(NPC1):c.3154_3156del (p.Ile1052del)
NM_000271.5(NPC1):c.315_317delinsT (p.Asn106fs)
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.5(NPC1):c.3182_3183del (p.Ile1061fs)
NM_000271.5(NPC1):c.3185C>T (p.Ala1062Val)
NM_000271.5(NPC1):c.3232del (p.Val1078fs)
NM_000271.5(NPC1):c.3243_3755-94del
NM_000271.5(NPC1):c.3246-2A>G rs886042268
NM_000271.5(NPC1):c.3246T>A (p.Ser1082Arg)
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter) rs774602107
NM_000271.5(NPC1):c.3265G>C (p.Glu1089Gln)
NM_000271.5(NPC1):c.3266A>G (p.Glu1089Gly)
NM_000271.5(NPC1):c.3273C>G (p.Tyr1091Ter) rs1598937493
NM_000271.5(NPC1):c.3276_3277del (p.Thr1093fs)
NM_000271.5(NPC1):c.3279CAT[1] (p.Ile1095del)
NM_000271.5(NPC1):c.327T>A (p.Cys109Ter) rs2059164764
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3314C>A (p.Ser1105Tyr)
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs) rs2145351244
NM_000271.5(NPC1):c.3325del (p.Ile1109fs) rs1057517149
NM_000271.5(NPC1):c.3359_3360insAC (p.Leu1121fs)
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg) rs120074136
NM_000271.5(NPC1):c.337_340dup (p.Ser114delinsMetTer)
NM_000271.5(NPC1):c.338G>A (p.Cys113Tyr)
NM_000271.5(NPC1):c.339T>A (p.Cys113Ter) rs2059164609
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
NM_000271.5(NPC1):c.3417_3423del (p.Phe1139fs) rs1057516647
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
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.3461T>A (p.Leu1154Ter) rs1555632182
NM_000271.5(NPC1):c.3467A>C (p.Asn1156Thr)
NM_000271.5(NPC1):c.346C>T (p.Arg116Ter) rs144973225
NM_000271.5(NPC1):c.3470_3473delinsAA (p.Leu1157fs)
NM_000271.5(NPC1):c.3478-1G>C
NM_000271.5(NPC1):c.3485G>C (p.Gly1162Ala) rs1194990534
NM_000271.5(NPC1):c.3490T>C (p.Ser1164Pro)
NM_000271.5(NPC1):c.3493G>T (p.Val1165Leu) rs748862167
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3502T>G (p.Cys1168Gly)
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.3507C>G (p.Ser1169Arg) rs2058596611
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg) rs1567977251
NM_000271.5(NPC1):c.3535_3538delinsTTT (p.Met1179fs) rs1555631957
NM_000271.5(NPC1):c.3553G>T (p.Glu1185Ter)
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.3590C>T (p.Ser1197Phe) rs1234099104
NM_000271.5(NPC1):c.3591+121C>T
NM_000271.5(NPC1):c.3591+2T>C rs1555631888
NM_000271.5(NPC1):c.3591+2dup rs2145342749
NM_000271.5(NPC1):c.3592-1G>C rs1555631653
NM_000271.5(NPC1):c.3609_3610del (p.Leu1204fs)
NM_000271.5(NPC1):c.3612_3613delinsG (p.Thr1205fs) rs1555631642
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.5(NPC1):c.3614C>T (p.Thr1205Ile)
NM_000271.5(NPC1):c.3634G>A (p.Val1212Met)
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
NM_000271.5(NPC1):c.3647C>T (p.Ala1216Val)
NM_000271.5(NPC1):c.3666_3672del (p.Gln1222fs) rs1555631610
NM_000271.5(NPC1):c.3718G>A (p.Gly1240Arg)
NM_000271.5(NPC1):c.3731T>C (p.Leu1244Pro)
NM_000271.5(NPC1):c.3732_3735del (p.Pro1245fs)
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545
NM_000271.5(NPC1):c.3754+1G>A rs1555631571
NM_000271.5(NPC1):c.3754+1G>C rs1555631571
NM_000271.5(NPC1):c.3754+1G>T rs1555631571
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000271.5(NPC1):c.378del (p.Glu127fs)
NM_000271.5(NPC1):c.392dup (p.Asp131fs)
NM_000271.5(NPC1):c.395del (p.Pro132fs) rs1057516462
NM_000271.5(NPC1):c.397del (p.Val133fs) rs1057517186
NM_000271.5(NPC1):c.3G>A (p.Met1Ile) rs1555645630
NM_000271.5(NPC1):c.414_435dup (p.Tyr146fs) rs1555641027
NM_000271.5(NPC1):c.425_428del (p.Lys142fs) rs770580241
NM_000271.5(NPC1):c.433C>T (p.Gln145Ter) rs1057516749
NM_000271.5(NPC1):c.451_452del (p.Ser151fs) rs749012588
NM_000271.5(NPC1):c.463+1G>A
NM_000271.5(NPC1):c.463+2T>G rs2145526252
NM_000271.5(NPC1):c.464-2A>C rs2145485704
NM_000271.5(NPC1):c.473dup (p.Asn158fs)
NM_000271.5(NPC1):c.497C>A (p.Pro166His)
NM_000271.5(NPC1):c.500C>G (p.Ser167Ter) rs752409181
NM_000271.5(NPC1):c.500C>T (p.Ser167Leu)
NM_000271.5(NPC1):c.529T>C (p.Cys177Arg)
NM_000271.5(NPC1):c.532G>A (p.Gly178Arg)
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
NM_000271.5(NPC1):c.58-2A>T rs1555642347
NM_000271.5(NPC1):c.586A>T (p.Lys196Ter) rs754653682
NM_000271.5(NPC1):c.608_609del (p.Phe203fs)
NM_000271.5(NPC1):c.629del (p.Phe209_Ser210insTer) rs1057516260
NM_000271.5(NPC1):c.631+1G>T
NM_000271.5(NPC1):c.681T>A (p.Cys227Ter) rs2059021939
NM_000271.5(NPC1):c.718_719del (p.Cys240fs)
NM_000271.5(NPC1):c.747del (p.Lys250fs)
NM_000271.5(NPC1):c.75T>A (p.Cys25Ter)
NM_000271.5(NPC1):c.803_805dup (p.Met268_Tyr269insLeu)
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del) rs1243863645
NM_000271.5(NPC1):c.839del (p.Leu280fs) rs1057518711
NM_000271.5(NPC1):c.852dup (p.Gly285fs) rs762124334
NM_000271.5(NPC1):c.872G>A (p.Trp291Ter) rs2059018297
NM_000271.5(NPC1):c.881+1G>A
NM_000271.5(NPC1):c.88G>T (p.Glu30Ter) rs2059233326
NM_000271.5(NPC1):c.901G>T (p.Glu301Ter) rs150154006
NM_000271.5(NPC1):c.906C>A (p.Tyr302Ter)
NM_000271.5(NPC1):c.943del (p.Ala315fs)
NM_000271.5(NPC1):c.955+1G>A
NM_000271.5(NPC1):c.955G>T (p.Gly319Ter)
NM_000271.5(NPC1):c.956-1G>T
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580
NM_000271.5(NPC1):c.99_100del (p.Ala34fs) rs2059233076
NM_000271.5(NPC1):c.[2727C>T;2793C>T]
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
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.679C>T (p.Arg227Ter)
NM_000355.4(TCN2):c.700del (p.Gln234fs) rs2087597945
NM_000355.4(TCN2):c.941-2A>G
NM_000361.3(THBD):c.245del (p.Gly82fs) rs1600410451
NM_000377.2(WAS):c.509_510del rs2062418811
NM_000377.3(WAS):c.104T>C (p.Leu35Pro)
NM_000377.3(WAS):c.1052del (p.Pro351fs) rs2147266405
NM_000377.3(WAS):c.1079dup (p.Pro361fs)
NM_000377.3(WAS):c.1119dup (p.Ala374fs)
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.1270_1295del (p.Gly424fs) rs2147266901
NM_000377.3(WAS):c.1273_1318del (p.Leu425fs)
NM_000377.3(WAS):c.128G>A (p.Cys43Tyr) rs2147262523
NM_000377.3(WAS):c.1339-2A>G rs2147267240
NM_000377.3(WAS):c.142A>C (p.Thr48Pro) rs2062412197
NM_000377.3(WAS):c.167C>T (p.Ala56Val) rs132630269
NM_000377.3(WAS):c.226_228del (p.Lys76del)
NM_000377.3(WAS):c.250T>C (p.Phe84Leu) rs2147262951
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>C (p.Arg86Pro) rs132630268
NM_000377.3(WAS):c.290G>A (p.Trp97Ter) rs1557006474
NM_000377.3(WAS):c.310C>T (p.Gln104Ter) rs193922414
NM_000377.3(WAS):c.315dup (p.Val106fs)
NM_000377.3(WAS):c.373G>C (p.Gly125Arg) rs2147263882
NM_000377.3(WAS):c.374G>A (p.Gly125Glu) rs1557006534
NM_000377.3(WAS):c.383T>G (p.Phe128Cys)
NM_000377.3(WAS):c.397G>A (p.Glu133Lys) rs2062417344
NM_000377.3(WAS):c.463+1G>A
NM_000377.3(WAS):c.553C>T (p.Gln185Ter) rs1557006672
NM_000377.3(WAS):c.671A>G (p.Asp224Gly)
NM_000377.3(WAS):c.70T>C (p.Ser24Pro) rs2062410722
NM_000377.3(WAS):c.763dup (p.Gln255fs) rs193922416
NM_000377.3(WAS):c.778-1G>A rs2147265861
NM_000377.3(WAS):c.832G>T (p.Glu278Ter)
NM_000377.3(WAS):c.852del (p.Glu285fs) rs1557007035
NM_000377.3(WAS):c.869T>C (p.Ile290Thr) rs2062426981
NM_000383.4(AIRE):c.1002del (p.Trp335fs) rs769305771
NM_000383.4(AIRE):c.1034_1036delinsA (p.Val345fs)
NM_000383.4(AIRE):c.1066dup (p.Arg356fs) rs1555872879
NM_000383.4(AIRE):c.1084del (p.Val362fs) rs1057517254
NM_000383.4(AIRE):c.1095+1G>A rs1022025101
NM_000383.4(AIRE):c.1116_1117del (p.Ala373fs) rs1057516411
NM_000383.4(AIRE):c.1121del (p.Gly374fs)
NM_000383.4(AIRE):c.1122_1123insCTGTCTCTTATACACATCT (p.Glu375delinsLeuSerLeuIleHisIleTer)
NM_000383.4(AIRE):c.114_115insAG (p.Pro39fs) rs2146375213
NM_000383.4(AIRE):c.1209_1213dup (p.Pro405fs) rs1555872997
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1257T>A (p.Cys419Ter) rs2040561421
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1267G>T (p.Glu423Ter)
NM_000383.4(AIRE):c.1278+1del rs996389327
NM_000383.4(AIRE):c.1279-2A>G rs1555873087
NM_000383.4(AIRE):c.1311C>A (p.Cys437Ter)
NM_000383.4(AIRE):c.131A>C (p.Gln44Pro)
NM_000383.4(AIRE):c.132+2T>C
NM_000383.4(AIRE):c.1398dup (p.Gly467fs)
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.1406del (p.Gly469fs) rs2146385757
NM_000383.4(AIRE):c.1470dup (p.Ser491fs) rs1555873248
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs) rs1057517072
NM_000383.4(AIRE):c.1490del (p.Pro497fs) rs750764323
NM_000383.4(AIRE):c.1503+1G>A
NM_000383.4(AIRE):c.1503+1G>T rs1156582406
NM_000383.4(AIRE):c.1566+2dup rs1057516811
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser) rs1568932096
NM_000383.4(AIRE):c.173C>G (p.Ala58Gly) rs747941115
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.20_24del (p.Leu7fs) rs1555871777
NM_000383.4(AIRE):c.233G>A (p.Trp78Ter) rs1057516499
NM_000383.4(AIRE):c.23G>A (p.Arg8His)
NM_000383.4(AIRE):c.242T>C (p.Leu81Pro)
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu) rs121434255
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.255C>A (p.Tyr85Ter) rs1057516225
NM_000383.4(AIRE):c.25C>T (p.Arg9Trp) rs1942959342
NM_000383.4(AIRE):c.260T>C (p.Leu87Pro) rs2040485564
NM_000383.4(AIRE):c.260del (p.Leu87fs) rs1057517428
NM_000383.4(AIRE):c.268T>C (p.Tyr90His) rs1555871902
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.290T>C (p.Leu97Pro) rs2146375951
NM_000383.4(AIRE):c.307+2T>G rs2146375964
NM_000383.4(AIRE):c.319_321delinsTG (p.Ser107fs) rs1555871928
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
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.44G>A (p.Arg15His) rs179363876
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu) rs179363876
NM_000383.4(AIRE):c.457_458delinsC (p.Ser153fs) rs1057516314
NM_000383.4(AIRE):c.464-2A>T rs1032171597
NM_000383.4(AIRE):c.46A>G (p.Thr16Ala)
NM_000383.4(AIRE):c.47C>G (p.Thr16Arg)
NM_000383.4(AIRE):c.481A>T (p.Lys161Ter) rs2040495130
NM_000383.4(AIRE):c.487_489delinsA (p.Pro163fs)
NM_000383.4(AIRE):c.496_497insA (p.Pro166fs)
NM_000383.4(AIRE):c.510_522del (p.Glu171fs) rs940485051
NM_000383.4(AIRE):c.512_516dup (p.Gln173fs) rs1555872060
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.539-2A>G rs2146377702
NM_000383.4(AIRE):c.54C>G (p.Ile18Met)
NM_000383.4(AIRE):c.619G>T (p.Glu207Ter)
NM_000383.4(AIRE):c.61del (p.Ala21fs)
NM_000383.4(AIRE):c.652+2T>C rs1555872272
NM_000383.4(AIRE):c.685del (p.Glu229fs)
NM_000383.4(AIRE):c.708_709del (p.Phe236fs)
NM_000383.4(AIRE):c.775A>T (p.Lys259Ter)
NM_000383.4(AIRE):c.798+1G>C rs138489664
NM_000383.4(AIRE):c.798+1G>T rs138489664
NM_000383.4(AIRE):c.809_810del (p.Glu270fs) rs1057517268
NM_000383.4(AIRE):c.868del (p.Gln290fs) rs2146379725
NM_000383.4(AIRE):c.880A>T (p.Lys294Ter) rs2040534254
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526
NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr) rs386833674
NM_000383.4(AIRE):c.93_94insT (p.Leu32fs)
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.977del (p.Pro326fs) rs1057517011
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.1085C>T (p.Thr362Ile) rs1569479953
NM_000397.4(CYBB):c.1139G>A (p.Trp380Ter) rs1602183244
NM_000397.4(CYBB):c.1140dup (p.Lys381fs) rs193922445
NM_000397.4(CYBB):c.1152-1G>A rs1929527785
NM_000397.4(CYBB):c.1165G>A (p.Gly389Arg) rs1556471150
NM_000397.4(CYBB):c.1237dup (p.Val413fs) rs1569480031
NM_000397.4(CYBB):c.1385A>C (p.Glu462Ala)
NM_000397.4(CYBB):c.15del (p.Ala5_Val6insTer) rs193922446
NM_000397.4(CYBB):c.160A>G (p.Arg54Gly)
NM_000397.4(CYBB):c.1610G>T (p.Cys537Phe)
NM_000397.4(CYBB):c.1618del (p.Glu540fs) rs1556473078
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter) rs2146822029
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.607G>T (p.Glu203Ter) rs193922449
NM_000397.4(CYBB):c.626A>G (p.His209Arg) rs151344482
NM_000397.4(CYBB):c.66C>A (p.Asn22Lys) rs193922450
NM_000397.4(CYBB):c.769T>C (p.Cys257Arg) rs2146813743
NM_000397.4(CYBB):c.785T>G (p.Phe262Cys) rs2146813757
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.62C>T (p.Ala21Val) rs2136216750
NM_000431.4(MVK):c.632-2A>C
NM_000431.4(MVK):c.677+1G>T
NM_000431.4(MVK):c.689_690del (p.Leu230fs) rs1593026935
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_000431.4(MVK):c.943_944del (p.Leu315fs) rs776735249
NM_000433.4(NCF2):c.1000+1G>A rs2102887348
NM_000433.4(NCF2):c.1026+1G>C rs1558092897
NM_000433.4(NCF2):c.1098_1099del (p.Gln367fs)
NM_000433.4(NCF2):c.1180T>G (p.Tyr394Asp)
NM_000433.4(NCF2):c.1438del (p.Glu480fs) rs2102875639
NM_000433.4(NCF2):c.196_197insA (p.Arg66fs)
NM_000433.4(NCF2):c.257+1G>A rs990043411
NM_000433.4(NCF2):c.290C>A (p.Ala97Asp)
NM_000433.4(NCF2):c.367-1G>A rs759285400
NM_000433.4(NCF2):c.375_376del (p.Tyr125_Asn126delinsTer)
NM_000433.4(NCF2):c.417del (p.Ala140fs)
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter)
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.1003T>C (p.Cys335Arg) rs2133294899
NM_000448.3(RAG1):c.1073G>A (p.Cys358Tyr)
NM_000448.3(RAG1):c.1137del (p.His379fs)
NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp) rs1590702874
NM_000448.3(RAG1):c.1219C>G (p.Gln407Glu) rs986694616
NM_000448.3(RAG1):c.1219C>T (p.Gln407Ter)
NM_000448.3(RAG1):c.1232T>C (p.Leu411Pro) rs1554944877
NM_000448.3(RAG1):c.1297G>A (p.Val433Met) rs199474679
NM_000448.3(RAG1):c.1348C>T (p.Gln450Ter) rs1850809690
NM_000448.3(RAG1):c.1361T>A (p.Leu454Gln) rs199474677
NM_000448.3(RAG1):c.1366del (p.Ala456fs)
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) rs772340017
NM_000448.3(RAG1):c.1501C>T (p.Gln501Ter)
NM_000448.3(RAG1):c.1519C>T (p.Arg507Trp) rs104894298
NM_000448.3(RAG1):c.1565G>A (p.Trp522Ter)
NM_000448.3(RAG1):c.1583dup (p.Asn528fs)
NM_000448.3(RAG1):c.160G>T (p.Glu54Ter)
NM_000448.3(RAG1):c.1690_1691del (p.Ala565fs)
NM_000448.3(RAG1):c.1767C>G (p.Tyr589Ter) rs991089005
NM_000448.3(RAG1):c.181C>T (p.Gln61Ter)
NM_000448.3(RAG1):c.1856C>T (p.Pro619Leu)
NM_000448.3(RAG1):c.2006A>G (p.Glu669Gly) rs199474689
NM_000448.3(RAG1):c.206del (p.Ala69fs)
NM_000448.3(RAG1):c.2096G>A (p.Arg699Gln)
NM_000448.3(RAG1):c.2125G>A (p.Gly709Ser)
NM_000448.3(RAG1):c.2143del (p.Val715fs)
NM_000448.3(RAG1):c.2147G>A (p.Arg716Gln) rs1064793248
NM_000448.3(RAG1):c.2182T>C (p.Tyr728His) rs1564989655
NM_000448.3(RAG1):c.2189G>T (p.Cys730Phe)
NM_000448.3(RAG1):c.2199T>A (p.Cys733Ter) rs1850830824
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys)
NM_000448.3(RAG1):c.2258A>G (p.His753Arg)
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys) rs749027430
NM_000448.3(RAG1):c.2320G>T (p.Glu774Ter) rs104894282
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp)
NM_000448.3(RAG1):c.2393A>G (p.His798Arg) rs2133297434
NM_000448.3(RAG1):c.2411C>T (p.Ala804Val) rs2133297485
NM_000448.3(RAG1):c.2449del (p.Glu817fs)
NM_000448.3(RAG1):c.2497C>T (p.Gln833Ter)
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
NM_000448.3(RAG1):c.256A>T (p.Lys86Ter)
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln) rs1064793249
NM_000448.3(RAG1):c.2749C>T (p.Gln917Ter) rs1850845029
NM_000448.3(RAG1):c.2780T>C (p.Phe927Ser)
NM_000448.3(RAG1):c.2803del (p.Ile935fs)
NM_000448.3(RAG1):c.2814T>G (p.Tyr938Ter) rs104894283
NM_000448.3(RAG1):c.2850del (p.Ile950fs) rs2133298263
NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys) rs193922463
NM_000448.3(RAG1):c.2918G>A (p.Arg973His)
NM_000448.3(RAG1):c.2918G>C (p.Arg973Pro) rs1384545687
NM_000448.3(RAG1):c.3074dup (p.Leu1025fs) rs1564990390
NM_000448.3(RAG1):c.371del (p.Asn124fs)
NM_000448.3(RAG1):c.418_419del (p.Leu140fs)
NM_000448.3(RAG1):c.539G>A (p.Trp180Ter)
NM_000448.3(RAG1):c.540G>A (p.Trp180Ter)
NM_000448.3(RAG1):c.611_612insT (p.Trp204fs)
NM_000448.3(RAG1):c.736_737delinsA (p.Ala246fs)
NM_000448.3(RAG1):c.820dup (p.Leu274fs)
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp) rs121918568
NM_000459.5(TEK):c.2228G>C (p.Gly743Ala) rs202131936
NM_000465.4(BARD1):c.1946_1966del (p.Glu649_Glu655del) rs1574706907
NM_000517.6(HBA2):c.301-1G>A rs587776827
NM_000518.4(HBB):c.206T>C (p.Leu69Pro) rs33972593
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000525.4(KCNJ11):c.185C>G (p.Thr62Arg) rs1057518775
NM_000536.4(RAG2):c.1038T>A (p.Tyr346Ter)
NM_000536.4(RAG2):c.103G>A (p.Gly35Ser)
NM_000536.4(RAG2):c.104G>T (p.Gly35Val) rs148508754
NM_000536.4(RAG2):c.110C>T (p.Pro37Leu) rs1851104914
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) rs121917897
NM_000536.4(RAG2):c.122G>A (p.Cys41Tyr)
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) rs121917895
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.4(RAG2):c.1274_1280dup (p.Asn428fs)
NM_000536.4(RAG2):c.1295C>T (p.Pro432Leu) rs753677011
NM_000536.4(RAG2):c.130G>T (p.Gly44Ter) rs1440633758
NM_000536.4(RAG2):c.1320A>C (p.Lys440Asn) rs754413772
NM_000536.4(RAG2):c.1328T>C (p.Met443Thr) rs1406618487
NM_000536.4(RAG2):c.1329G>T (p.Met443Ile) rs773710101
NM_000536.4(RAG2):c.1332C>G (p.Ile444Met) rs1564995662
NM_000536.4(RAG2):c.133_146del (p.Val45fs)
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg) rs1564995627
NM_000536.4(RAG2):c.1366G>A (p.Ala456Thr) rs1564995611
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.1403_1404dup (p.Leu469fs) rs2133311139
NM_000536.4(RAG2):c.186C>A (p.Phe62Leu) rs1564997563
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.4(RAG2):c.217C>G (p.Arg73Gly)
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn) rs121918574
NM_000536.4(RAG2):c.284G>A (p.Gly95Glu)
NM_000536.4(RAG2):c.2T>C (p.Met1Thr) rs1554947410
NM_000536.4(RAG2):c.302A>G (p.Asn101Ser)
NM_000536.4(RAG2):c.302del (p.Asn101fs) rs2133315462
NM_000536.4(RAG2):c.303T>A (p.Asn101Lys)
NM_000536.4(RAG2):c.356del (p.Lys119fs)
NM_000536.4(RAG2):c.385_389del (p.Leu129fs) rs1164927451
NM_000536.4(RAG2):c.3G>A (p.Met1Ile)
NM_000536.4(RAG2):c.419A>G (p.His140Arg) rs1335036396
NM_000536.4(RAG2):c.41T>A (p.Leu14Ter)
NM_000536.4(RAG2):c.43del (p.Ile15fs)
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.470G>T (p.Gly157Val) rs1564997121
NM_000536.4(RAG2):c.476G>A (p.Arg159His) rs2133314621
NM_000536.4(RAG2):c.479C>A (p.Ser160Ter)
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser) rs1159686210
NM_000536.4(RAG2):c.535dup (p.Leu179fs)
NM_000536.4(RAG2):c.548dup (p.Leu184fs)
NM_000536.4(RAG2):c.583T>G (p.Tyr195Asp) rs1479328926
NM_000536.4(RAG2):c.608G>A (p.Gly203Glu) rs1851081720
NM_000536.4(RAG2):c.653T>A (p.Ile218Asn)
NM_000536.4(RAG2):c.683del (p.Ile228fs)
NM_000536.4(RAG2):c.686G>C (p.Arg229Pro) rs121917894
NM_000536.4(RAG2):c.686G>T (p.Arg229Leu) rs121917894
NM_000536.4(RAG2):c.724dup (p.Leu242fs) rs2133313784
NM_000536.4(RAG2):c.749C>G (p.Thr250Arg)
NM_000536.4(RAG2):c.831T>A (p.Tyr277Ter)
NM_000536.4(RAG2):c.854T>G (p.Met285Arg) rs121917896
NM_000536.4(RAG2):c.913C>G (p.Pro305Ala) rs370666759
NM_000536.4(RAG2):c.914C>T (p.Pro305Leu)
NM_000536.4(RAG2):c.924_930dup (p.Ile311fs)
NM_000536.4(RAG2):c.951G>A (p.Trp317Ter)
NM_000536.4(RAG2):c.951del (p.Trp317fs)
NM_000536.4(RAG2):c.954del (p.Phe318fs) rs2133312873
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter) rs879541124
NM_000536.4(RAG2):c.95G>T (p.Gly32Val)
NM_000538.4(RFXAP):c.287C>A (p.Ser96Ter)
NM_000538.4(RFXAP):c.39_40insAC (p.Ala14fs) rs2138212278
NM_000543.4:c.777_778ins8
NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter) rs1470998208
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys) rs281860668
NM_000543.5(SMPD1):c.106_107delinsCGCTGGC (p.Val36fs)
NM_000543.5(SMPD1):c.1076C>T (p.Ala359Val) rs797044800
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs) rs1590735307
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.1090A>G (p.Arg364Gly) rs1242180535
NM_000543.5(SMPD1):c.1091+1G>A rs1847955457
NM_000543.5(SMPD1):c.1091G>A (p.Arg364Lys)
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.10_11insTTGTGATGCT (p.Tyr4fs)
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1103del (p.Phe368fs)
NM_000543.5(SMPD1):c.1105T>C (p.Tyr369His) rs1848014133
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs) rs786204514
NM_000543.5(SMPD1):c.1112T>C (p.Leu371Pro) rs2134017039
NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser) rs1342372980
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
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.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.114del (p.Leu39fs) rs886043098
NM_000543.5(SMPD1):c.1152del (p.Met384fs)
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser) rs120074123
NM_000543.5(SMPD1):c.1154A>T (p.Asn385Ile)
NM_000543.5(SMPD1):c.1167T>G (p.Arg389=) rs1162794351
NM_000543.5(SMPD1):c.122_128del (p.Leu41fs)
NM_000543.5(SMPD1):c.1233G>C (p.Glu411Asp) rs34555120
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>C rs1057516454
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1264-2A>G rs774309925
NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser) rs1554935136
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.1280_1286del (p.His427fs)
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.1299_1302del (p.His432_Cys433insTer) rs1057517390
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.1340G>A (p.Arg447Lys) rs2134019797
NM_000543.5(SMPD1):c.1341-10_1429dup rs1554935254
NM_000543.5(SMPD1):c.1341-1G>T rs1057516854
NM_000543.5(SMPD1):c.1341-21_1341-18del
NM_000543.5(SMPD1):c.1358C>A (p.Ala453Asp)
NM_000543.5(SMPD1):c.1373del (p.Gly458fs) rs1554935273
NM_000543.5(SMPD1):c.1375C>T (p.His459Tyr) rs1848060631
NM_000543.5(SMPD1):c.1376A>G (p.His459Arg) rs1848060729
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro) rs794727705
NM_000543.5(SMPD1):c.1379del (p.Thr460fs) rs1554935285
NM_000543.5(SMPD1):c.1393T>C (p.Phe465Leu) rs1258231226
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser) rs1319643225
NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu) rs1848061944
NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser) rs267607074
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys) rs267607074
NM_000543.5(SMPD1):c.1426C>G (p.Arg476Gly) rs182812968
NM_000543.5(SMPD1):c.1429C>A (p.Pro477Thr) rs2134021440
NM_000543.5(SMPD1):c.1430C>A (p.Pro477Gln) rs753508874
NM_000543.5(SMPD1):c.1431del (p.Leu478fs)
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) rs267607075
NM_000543.5(SMPD1):c.1457G>A (p.Ser486Asn) rs2134021618
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) rs281860665
NM_000543.5(SMPD1):c.1462A>G (p.Thr488Ala)
NM_000543.5(SMPD1):c.1481A>T (p.Asn494Ile)
NM_000543.5(SMPD1):c.1482T>A (p.Asn494Lys)
NM_000543.5(SMPD1):c.1486+5G>C
NM_000543.5(SMPD1):c.1487-1G>A rs2134022652
NM_000543.5(SMPD1):c.1489T>C (p.Tyr497His) rs1848079553
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs) rs281860676
NM_000543.5(SMPD1):c.1491C>G (p.Tyr497Ter) rs1554935439
NM_000543.5(SMPD1):c.1492C>A (p.Arg498Ser)
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1493G>C (p.Arg498Pro) rs120074117
NM_000543.5(SMPD1):c.1497_1498del (p.Tyr500fs) rs1057517200
NM_000543.5(SMPD1):c.1508A>T (p.Asp503Val)
NM_000543.5(SMPD1):c.1518C>A (p.Tyr506Ter) rs943924098
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter) rs943924098
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs) rs1057516949
NM_000543.5(SMPD1):c.1526G>C (p.Ser509Thr) rs764772735
NM_000543.5(SMPD1):c.1543del (p.Asp515fs)
NM_000543.5(SMPD1):c.1546C>T (p.His516Tyr)
NM_000543.5(SMPD1):c.1547A>T (p.His516Leu)
NM_000543.5(SMPD1):c.1553C>T (p.Thr518Ile) rs752679988
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000543.5(SMPD1):c.1562T>G (p.Leu521Arg) rs1057517826
NM_000543.5(SMPD1):c.156_157del (p.Arg53fs)
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln) rs199915216
NM_000543.5(SMPD1):c.1603T>C (p.Trp535Arg) rs1554935555
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1627G>T (p.Glu543Ter) rs756031857
NM_000543.5(SMPD1):c.1638del (p.Leu547fs) rs2134023610
NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs) rs1554935600
NM_000543.5(SMPD1):c.1665G>A (p.Trp555Ter) rs1554935610
NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro) rs875989836
NM_000543.5(SMPD1):c.168G>A (p.Trp56Ter) rs1057516722
NM_000543.5(SMPD1):c.168_169del (p.Trp56fs)
NM_000543.5(SMPD1):c.1693G>T (p.Asp565Tyr)
NM_000543.5(SMPD1):c.1716C>G (p.Phe572Leu)
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser) rs2134024060
NM_000543.5(SMPD1):c.1719G>A (p.Trp573Ter)
NM_000543.5(SMPD1):c.1736G>A (p.Gly579Asp)
NM_000543.5(SMPD1):c.1748C>A (p.Ser583Ter) rs373940701
NM_000543.5(SMPD1):c.175del (p.Ala59fs) rs2134006179
NM_000543.5(SMPD1):c.1771del (p.Arg591fs)
NM_000543.5(SMPD1):c.1783C>G (p.Leu595Val) rs2134024349
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs) rs1437508852
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs) rs1057516403
NM_000543.5(SMPD1):c.1786T>C (p.Cys596Arg) rs1848099174
NM_000543.5(SMPD1):c.1804del (p.Arg602fs) rs1848099900
NM_000543.5(SMPD1):c.1817del (p.Pro606fs) rs1554935746
NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys)
NM_000543.5(SMPD1):c.1829G>A (p.Arg610His)
NM_000543.5(SMPD1):c.193del (p.Ser65fs) rs1057517098
NM_000543.5(SMPD1):c.199C>T (p.Gln67Ter) rs1057516931
NM_000543.5(SMPD1):c.19_26dup (p.Gln10fs)
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) rs1205990349
NM_000543.5(SMPD1):c.290T>C (p.Leu97Pro) rs1847878243
NM_000543.5(SMPD1):c.295_296del (p.Thr99fs)
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000543.5(SMPD1):c.318+2T>A rs1225462507
NM_000543.5(SMPD1):c.318+2T>C rs1225462507
NM_000543.5(SMPD1):c.319-2A>G
NM_000543.5(SMPD1):c.354del (p.Ile119fs) rs727504165
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro) rs1554934109
NM_000543.5(SMPD1):c.390_411del (p.Ala131fs)
NM_000543.5(SMPD1):c.39del (p.Arg14fs) rs2134004594
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) rs797044797
NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer) rs1057517086
NM_000543.5(SMPD1):c.436del (p.Glu146fs)
NM_000543.5(SMPD1):c.442_446del (p.Trp148fs)
NM_000543.5(SMPD1):c.448_449insTAGGAAGCCGTAAA (p.Arg150fs)
NM_000543.5(SMPD1):c.450_453delinsTCTCCTTT (p.Ser151fs)
NM_000543.5(SMPD1):c.451_452del (p.Val152fs)
NM_000543.5(SMPD1):c.464C>G (p.Pro155Arg) rs1369175943
NM_000543.5(SMPD1):c.469G>A (p.Glu157Lys) rs2134009384
NM_000543.5(SMPD1):c.476G>A (p.Cys159Tyr)
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.505dup (p.His169fs) rs781535659
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.528del (p.Ser175_Trp176insTer) rs1554934210
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter) rs1428487333
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.581del (p.Pro194fs) rs748165078
NM_000543.5(SMPD1):c.581dup (p.Ala195fs) rs748165078
NM_000543.5(SMPD1):c.596_597del (p.Pro199fs)
NM_000543.5(SMPD1):c.597del (p.Val200fs)
NM_000543.5(SMPD1):c.610C>A (p.Leu204Ile)
NM_000543.5(SMPD1):c.611T>A (p.Leu204His) rs2134010621
NM_000543.5(SMPD1):c.614_647del (p.Phe205fs) rs1554934309
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter) rs1554933751
NM_000543.5(SMPD1):c.620C>A (p.Thr207Asn) rs1847921260
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
NM_000543.5(SMPD1):c.633G>C (p.Trp211Cys)
NM_000543.5(SMPD1):c.634G>C (p.Asp212His) rs772889728
NM_000543.5(SMPD1):c.647del (p.Leu216fs)
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly) rs1847923379
NM_000543.5(SMPD1):c.668G>C (p.Cys223Ser) rs2134010914
NM_000543.5(SMPD1):c.679C>G (p.Leu227Val)
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg) rs1564923612
NM_000543.5(SMPD1):c.688C>A (p.Arg230Ser)
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe) rs1847925080
NM_000543.5(SMPD1):c.722del (p.Pro241fs)
NM_000543.5(SMPD1):c.725G>A (p.Gly242Asp) rs1057435197
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter) rs120074122
NM_000543.5(SMPD1):c.731G>A (p.Gly244Glu)
NM_000543.5(SMPD1):c.731G>C (p.Gly244Ala) rs2134011288
NM_000543.5(SMPD1):c.735C>G (p.Tyr245Ter)
NM_000543.5(SMPD1):c.740G>A (p.Gly247Asp) rs1590739350
NM_000543.5(SMPD1):c.749G>A (p.Ser250Asn)
NM_000543.5(SMPD1):c.750C>A (p.Ser250Arg) rs1423504237
NM_000543.5(SMPD1):c.754T>C (p.Cys252Arg) rs1847929817
NM_000543.5(SMPD1):c.766dup (p.Leu256fs) rs1018556947
NM_000543.5(SMPD1):c.778G>T (p.Glu260Ter) rs1554934406
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.797T>C (p.Leu266Pro) rs1847932355
NM_000543.5(SMPD1):c.827A>G (p.Tyr276Cys) rs1847934777
NM_000543.5(SMPD1):c.840C>G (p.Asp280Glu) rs2134011919
NM_000543.5(SMPD1):c.867del (p.Thr290fs)
NM_000543.5(SMPD1):c.874C>T (p.Gln292Ter)
NM_000543.5(SMPD1):c.881A>G (p.Gln294Arg) rs1847939431
NM_000543.5(SMPD1):c.893T>C (p.Leu298Pro) rs1847940504
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.938_939delinsTGGTGGGCCAGCATGGT (p.Pro313delinsLeuValGlyGlnHisGly) rs2134012580
NM_000543.5(SMPD1):c.941T>C (p.Val314Ala)
NM_000543.5(SMPD1):c.950del (p.Ala317fs)
NM_000543.5(SMPD1):c.955G>A (p.Gly319Ser) rs757934797
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter) rs1554933780
NM_000543.5(SMPD1):c.961C>T (p.His321Tyr) rs2134012749
NM_000543.5(SMPD1):c.963del (p.His321fs)
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
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.994_995delinsG (p.Pro332fs) rs1057517345
NM_000543.5(SMPD1):c.995C>A (p.Pro332His)
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu) rs202081954
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1310-2A>G rs2135847311
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000546.6(TP53):c.1140del (p.His380fs) rs1555524108
NM_000546.6(TP53):c.216dup (p.Val73fs) rs730882018
NM_000546.6(TP53):c.332T>A (p.Leu111Gln) rs1057519997
NM_000546.6(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.6(TP53):c.332T>G (p.Leu111Arg) rs1057519997
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_000546.6(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.421T>A (p.Cys141Ser) rs1057519978
NM_000546.6(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_000546.6(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_000546.6(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.6(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.6(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.6(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.6(TP53):c.577C>A (p.His193Asn) rs876658468
NM_000546.6(TP53):c.577C>G (p.His193Asp) rs876658468
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.6(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_000546.6(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_000546.6(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.6(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser) rs1057520007
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe) rs1057520007
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.641A>T (p.His214Leu) rs1057519992
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.644G>T (p.Ser215Ile) rs587782177
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.6(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.6(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_000546.6(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.6(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.6(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_000546.6(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_000546.6(TP53):c.726C>G (p.Cys242Trp) rs375874539
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_000546.6(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.6(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.6(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_000546.6(TP53):c.764T>G (p.Ile255Ser) rs876659675
NM_000546.6(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_000546.6(TP53):c.800G>C (p.Arg267Pro) rs587780075
NM_000546.6(TP53):c.801G>C (p.Arg267=)
NM_000546.6(TP53):c.806G>T (p.Ser269Ile)
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.815T>A (p.Val272Glu) rs876660333
NM_000546.6(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.6(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.6(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.6(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_000546.6(TP53):c.841G>C (p.Asp281His) rs764146326
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.6(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.6(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_000546.6(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_000546.6(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.6(TP53):c.857A>T (p.Glu286Val) rs1057519985
NM_000546.6(TP53):c.977A>T (p.Glu326Val)
NM_000551.4(VHL):c.-89_-51del
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.319C>G (p.Arg107Gly) rs397516440
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_000558.5(HBA1):c.300+1G>A rs758093235
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948
NM_000562.3(C8A):c.1152T>A (p.Tyr384Ter)
NM_000587.4(C7):c.*96TCT[1]
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000587.4(C7):c.614G>A (p.Trp205Ter)
NM_000593.6(TAP1):c.-46_-45delinsAT rs1770963822
NM_000593.6(TAP1):c.1740+2T>C
NM_000593.6(TAP1):c.1937G>A (p.Gly646Asp) rs765527607
NM_000626.4(CD79B):c.586T>C (p.Tyr196His)
NM_000628.5(IL10RB):c.173+2T>G rs2123561272
NM_000628.5(IL10RB):c.174-1G>A
NM_000628.5(IL10RB):c.25_43del (p.Leu9fs)
NM_000628.5(IL10RB):c.331+1G>C rs1989179205
NM_000628.5(IL10RB):c.49+2T>G rs2123556583
NM_000629.3(IFNAR1):c.1356del (p.Phe452fs)
NM_000631.5(NCF4):c.270_271+16del rs1939893821
NM_000631.5(NCF4):c.33-1G>A rs2145702588
NM_000631.5(NCF4):c.471-1G>A
NM_000631.5(NCF4):c.614_615del (p.Lys205fs)
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.288T>A (p.Tyr96Ter)
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.1576+1G>A rs1031224658
NM_000760.4(CSF3R):c.1577-1G>A
NM_000760.4(CSF3R):c.1843A>G (p.Thr615Ala) rs1057519776
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_000760.4(CSF3R):c.361+1G>T
NM_000760.4(CSF3R):c.65-1G>A
NM_000760.4(CSF3R):c.65-2A>C
NM_000760.4(CSF3R):c.843+2T>C rs1650834071
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.2040del (p.Phe680fs)
NM_001006658.3(CR2):c.2240+1G>A
NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter) rs1658388636
NM_001006658.3(CR2):c.2716+2T>C rs2102307813
NM_001006658.3(CR2):c.2870G>A (p.Gly957Glu) rs764859619
NM_001006658.3(CR2):c.3089-1G>A rs1365226221
NM_001006658.3(CR2):c.3188+2del rs1658562210
NM_001006658.3(CR2):c.590G>C (p.Cys197Ser)
NM_001006658.3(CR2):c.623_624del (p.Pro208fs) rs747832403
NM_001006658.3(CR2):c.624dup (p.Thr209fs) rs747832403
NM_001012339.3(DNAJC21):c.1004C>A (p.Ser335Ter)
NM_001012339.3(DNAJC21):c.316-2A>C
NM_001012339.3(DNAJC21):c.983+1G>T rs368148362
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg) rs1567628757
NM_001013838.3(CARMIL2):c.1334+1G>T rs780608299
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr) rs1567626023
NM_001013838.3(CARMIL2):c.1528C>T (p.Gln510Ter)
NM_001013838.3(CARMIL2):c.1753_1754del (p.Gln585fs)
NM_001013838.3(CARMIL2):c.2313+1G>A rs765817045
NM_001013838.3(CARMIL2):c.958+1G>C rs1567628294
NM_001018113.3(FANCB):c.1570C>T (p.Gln524Ter)
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg) rs879254329
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter) rs2147445599
NM_001018113.3(FANCB):c.972del (p.Lys324fs)
NM_001018115.3(FANCD2):c.1042del (p.Asp348fs)
NM_001018115.3(FANCD2):c.1052dup (p.Ser352fs)
NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter) rs531943246
NM_001018115.3(FANCD2):c.1098+2T>A
NM_001018115.3(FANCD2):c.1134+1G>A
NM_001018115.3(FANCD2):c.1135-1G>C
NM_001018115.3(FANCD2):c.1181dup (p.Thr395fs) rs2125000228
NM_001018115.3(FANCD2):c.1243C>T (p.Gln415Ter)
NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)
NM_001018115.3(FANCD2):c.1278+1G>T
NM_001018115.3(FANCD2):c.1279-2A>C
NM_001018115.3(FANCD2):c.1318C>T (p.Gln440Ter)
NM_001018115.3(FANCD2):c.1408C>T (p.Gln470Ter)
NM_001018115.3(FANCD2):c.1413+2T>C rs1459222478
NM_001018115.3(FANCD2):c.1545+1G>T
NM_001018115.3(FANCD2):c.1546-1G>A
NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)
NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)
NM_001018115.3(FANCD2):c.1632_1633del (p.Gln544_Asn545insTer)
NM_001018115.3(FANCD2):c.1656+1G>A
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
NM_001018115.3(FANCD2):c.1710C>G (p.Tyr570Ter)
NM_001018115.3(FANCD2):c.1766+1G>A
NM_001018115.3(FANCD2):c.1790_1791del (p.Gln597fs)
NM_001018115.3(FANCD2):c.1827+1G>C rs761074497
NM_001018115.3(FANCD2):c.1864G>T (p.Glu622Ter)
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) rs2125032674
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs) rs757567225
NM_001018115.3(FANCD2):c.188_191del (p.Glu63fs)
NM_001018115.3(FANCD2):c.193C>T (p.Gln65Ter)
NM_001018115.3(FANCD2):c.1945del (p.Leu649fs)
NM_001018115.3(FANCD2):c.1947+1G>A
NM_001018115.3(FANCD2):c.1948-2A>G
NM_001018115.3(FANCD2):c.1956del (p.His654fs)
NM_001018115.3(FANCD2):c.2021+1G>T
NM_001018115.3(FANCD2):c.205+1G>A rs2124970985
NM_001018115.3(FANCD2):c.2052C>A (p.Tyr684Ter)
NM_001018115.3(FANCD2):c.206-1G>T rs2124974541
NM_001018115.3(FANCD2):c.2094CCT[1] (p.Leu700del) rs869312805
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
NM_001018115.3(FANCD2):c.2168_2168+1delinsT rs2087674573
NM_001018115.3(FANCD2):c.2169-1G>C rs141783465
NM_001018115.3(FANCD2):c.2217_2218del (p.Val741fs)
NM_001018115.3(FANCD2):c.224dup (p.Gln76fs)
NM_001018115.3(FANCD2):c.2269+1G>A
NM_001018115.3(FANCD2):c.2270-1G>C
NM_001018115.3(FANCD2):c.230del (p.Lys77fs) rs770835633
NM_001018115.3(FANCD2):c.2404_2405dup (p.Gln802fs)
NM_001018115.3(FANCD2):c.2477del (p.Leu826fs)
NM_001018115.3(FANCD2):c.2495-2A>G
NM_001018115.3(FANCD2):c.2497dup (p.Thr833fs)
NM_001018115.3(FANCD2):c.2605+2dup rs2125048104
NM_001018115.3(FANCD2):c.2617_2620del (p.Lys873fs)
NM_001018115.3(FANCD2):c.2620dup (p.Thr874fs)
NM_001018115.3(FANCD2):c.2672C>A (p.Ser891Ter)
NM_001018115.3(FANCD2):c.2676_2700del (p.Cys893fs)
NM_001018115.3(FANCD2):c.2738dup (p.Thr914fs)
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
NM_001018115.3(FANCD2):c.2778_2779delinsGT (p.Glu927Ter)
NM_001018115.3(FANCD2):c.2837del (p.Ile945_Leu946insTer)
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter) rs762724830
NM_001018115.3(FANCD2):c.2860-2A>G
NM_001018115.3(FANCD2):c.302_303del (p.Glu101fs) rs2124975164
NM_001018115.3(FANCD2):c.308dup (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs) rs1559399574
NM_001018115.3(FANCD2):c.309C>A (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.309C>G (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.3219del (p.Phe1073fs) rs1575824608
NM_001018115.3(FANCD2):c.3224+1G>C
NM_001018115.3(FANCD2):c.3224+1G>T rs1468320596
NM_001018115.3(FANCD2):c.3225G>A (p.Trp1075Ter)
NM_001018115.3(FANCD2):c.3238C>T (p.Gln1080Ter)
NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)
NM_001018115.3(FANCD2):c.3289C>T (p.Arg1097Ter)
NM_001018115.3(FANCD2):c.3301_3304del (p.Gly1101fs)
NM_001018115.3(FANCD2):c.3313C>T (p.Gln1105Ter)
NM_001018115.3(FANCD2):c.3335+1G>A
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
NM_001018115.3(FANCD2):c.3378del (p.Ser1127fs) rs2125072480
NM_001018115.3(FANCD2):c.3466+1G>A
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.3597del (p.Ala1199_Ile1200insTer)
NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)
NM_001018115.3(FANCD2):c.3749_3777+789del rs2125081509
NM_001018115.3(FANCD2):c.377+2T>C
NM_001018115.3(FANCD2):c.378-1G>C
NM_001018115.3(FANCD2):c.3798_3799del (p.Tyr1267fs)
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.3889-2A>G
NM_001018115.3(FANCD2):c.389del (p.Ser130fs)
NM_001018115.3(FANCD2):c.3922C>T (p.Gln1308Ter) rs148471911
NM_001018115.3(FANCD2):c.3952A>T (p.Arg1318Ter)
NM_001018115.3(FANCD2):c.3963_3963+1inv
NM_001018115.3(FANCD2):c.39dup (p.Glu14fs) rs1575723664
NM_001018115.3(FANCD2):c.4038+2T>G
NM_001018115.3(FANCD2):c.4039-2A>G
NM_001018115.3(FANCD2):c.4045C>T (p.Gln1349Ter)
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
NM_001018115.3(FANCD2):c.4100T>G (p.Leu1367Ter)
NM_001018115.3(FANCD2):c.4186-2A>G
NM_001018115.3(FANCD2):c.458T>G (p.Leu153Ter)
NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter) rs2086805219
NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)
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.65-2A>G
NM_001018115.3(FANCD2):c.661dup (p.Asp221fs)
NM_001018115.3(FANCD2):c.667del (p.Gln223fs)
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.695+2T>G
NM_001018115.3(FANCD2):c.696-121C>G rs2086862509
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs) rs2086865775
NM_001018115.3(FANCD2):c.708dup (p.Glu237fs)
NM_001018115.3(FANCD2):c.842dup (p.Ile282fs)
NM_001018115.3(FANCD2):c.888+1G>A
NM_001018115.3(FANCD2):c.889-2A>G
NM_001018115.3(FANCD2):c.92del (p.Lys31fs) rs1378830983
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter) rs1223055462
NM_001018115.3(FANCD2):c.990-2A>G
NM_001025603.2(RFX5):c.1025del (p.Pro342fs)
NM_001025603.2(RFX5):c.117-1G>T
NM_001025603.2(RFX5):c.137dup (p.Glu47fs)
NM_001025603.2(RFX5):c.1706dup (p.Ser571fs) rs763938154
NM_001025603.2(RFX5):c.233+1G>T
NM_001025603.2(RFX5):c.353+2T>G rs1183832067
NM_001025603.2(RFX5):c.473+2T>C
NM_001025603.2(RFX5):c.474-2A>G rs2102065180
NM_001025603.2(RFX5):c.555+1G>C rs367771361
NM_001025603.2(RFX5):c.556-2A>G rs1571260171
NM_001025603.2(RFX5):c.757+1G>A
NM_001025603.2(RFX5):c.859-2A>G
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) rs121908159
NM_001033855.3(DCLRE1C):c.1061+1G>A
NM_001033855.3(DCLRE1C):c.1085C>N (p.Ser362Xaa)
NM_001033855.3(DCLRE1C):c.1087del (p.Gln363fs)
NM_001033855.3(DCLRE1C):c.1103del (p.Lys368fs)
NM_001033855.3(DCLRE1C):c.1106dup (p.Tyr369Ter)
NM_001033855.3(DCLRE1C):c.1156+1G>A
NM_001033855.3(DCLRE1C):c.1159_1184dup (p.Asp395fs)
NM_001033855.3(DCLRE1C):c.1176_1179del (p.Phe393fs)
NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs)
NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter) rs1354336544
NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter) rs1354336544
NM_001033855.3(DCLRE1C):c.1307delinsAGGATGCT (p.Cys436Ter)
NM_001033855.3(DCLRE1C):c.1319_1320del (p.Cys440fs)
NM_001033855.3(DCLRE1C):c.1324C>T (p.Gln442Ter)
NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)
NM_001033855.3(DCLRE1C):c.1442del (p.Lys481fs) rs2131776743
NM_001033855.3(DCLRE1C):c.1442dup (p.Ala482fs)
NM_001033855.3(DCLRE1C):c.1492dup (p.Glu498fs) rs1588893751
NM_001033855.3(DCLRE1C):c.1513G>T (p.Glu505Ter)
NM_001033855.3(DCLRE1C):c.1539_1540del (p.Gly515fs)
NM_001033855.3(DCLRE1C):c.1574_1575del (p.Asp524_Ser525insTer)
NM_001033855.3(DCLRE1C):c.162-2A>C
NM_001033855.3(DCLRE1C):c.1628_1632del (p.Ile543fs) rs767758218
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs) rs886037924
NM_001033855.3(DCLRE1C):c.1696_1699dup (p.Ser567fs)
NM_001033855.3(DCLRE1C):c.1706dup (p.Asp569fs)
NM_001033855.3(DCLRE1C):c.1749dup (p.Glu584fs)
NM_001033855.3(DCLRE1C):c.1774G>T (p.Glu592Ter)
NM_001033855.3(DCLRE1C):c.1777C>T (p.Gln593Ter)
NM_001033855.3(DCLRE1C):c.1784dup (p.Ile596fs)
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs) rs759377639
NM_001033855.3(DCLRE1C):c.1797_1818dup (p.Ser607delinsGlyTyrLeuLeuTer)
NM_001033855.3(DCLRE1C):c.1803_1804dup (p.Tyr602fs)
NM_001033855.3(DCLRE1C):c.1808_1809del (p.Tyr602_Ser603insTer)
NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter) rs2131108640
NM_001033855.3(DCLRE1C):c.1830del (p.Asp611fs)
NM_001033855.3(DCLRE1C):c.184_191del (p.Ser62fs)
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter) rs1589136659
NM_001033855.3(DCLRE1C):c.211A>C (p.Thr71Pro)
NM_001033855.3(DCLRE1C):c.246+2T>G
NM_001033855.3(DCLRE1C):c.247-1G>C rs2131027668
NM_001033855.3(DCLRE1C):c.247-2A>G rs2131027694
NM_001033855.3(DCLRE1C):c.274dup (p.Gln92fs)
NM_001033855.3(DCLRE1C):c.306+1G>A
NM_001033855.3(DCLRE1C):c.306+2T>A rs2131026813
NM_001033855.3(DCLRE1C):c.306+2T>C
NM_001033855.3(DCLRE1C):c.310_313del rs2130974126
NM_001033855.3(DCLRE1C):c.330_331del (p.Leu111fs)
NM_001033855.3(DCLRE1C):c.335C>T (p.Pro112Leu)
NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)
NM_001033855.3(DCLRE1C):c.363-2A>G rs2130956855
NM_001033855.3(DCLRE1C):c.403G>A (p.Gly135Arg) rs786205456
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn) rs1839765652
NM_001033855.3(DCLRE1C):c.413G>C (p.Arg138Thr)
NM_001033855.3(DCLRE1C):c.416T>A (p.Leu139Ter)
NM_001033855.3(DCLRE1C):c.426_464+123del
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs) rs1404214090
NM_001033855.3(DCLRE1C):c.464+2T>C
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.488_491del (p.Tyr163fs)
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>A
NM_001033855.3(DCLRE1C):c.538-1G>C
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter) rs752655158
NM_001033855.3(DCLRE1C):c.595_596dup (p.His200fs)
NM_001033855.3(DCLRE1C):c.671del (p.Gly224fs) rs1407251815
NM_001033855.3(DCLRE1C):c.676C>T (p.Gln226Ter)
NM_001033855.3(DCLRE1C):c.678+1G>A
NM_001033855.3(DCLRE1C):c.678+2T>G
NM_001033855.3(DCLRE1C):c.679-1G>A
NM_001033855.3(DCLRE1C):c.679-1G>T rs2130918080
NM_001033855.3(DCLRE1C):c.716del (p.Pro239fs)
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter) rs1589050343
NM_001033855.3(DCLRE1C):c.780+1G>C rs1839255008
NM_001033855.3(DCLRE1C):c.781-1G>A
NM_001033855.3(DCLRE1C):c.816T>A (p.Cys272Ter) rs1346260747
NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro)
NM_001033855.3(DCLRE1C):c.917+1G>A rs1564418254
NM_001033855.3(DCLRE1C):c.928_929dup (p.Ser310fs)
NM_001033855.3(DCLRE1C):c.939_972+715del
NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys)
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121
NM_001033855.3(DCLRE1C):c.973-1G>A
NM_001033910.3(TRAF5):c.1254_1257del (p.Glu419fs) rs756183569
NM_001042492.3(NF1):c.1062+2T>A
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_001042492.3(NF1):c.1082del (p.Ser361fs)
NM_001042492.3(NF1):c.1156_1158delinsTT (p.Ile386fs)
NM_001042492.3(NF1):c.1186-1G>C rs876660782
NM_001042492.3(NF1):c.1356del (p.Gly453fs)
NM_001042492.3(NF1):c.146del (p.Tyr49fs)
NM_001042492.3(NF1):c.1564dup (p.Thr522fs) rs2066874810
NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg) rs199474737
NM_001042492.3(NF1):c.1776del (p.Ser592fs)
NM_001042492.3(NF1):c.1876del (p.Leu626fs) rs1597710409
NM_001042492.3(NF1):c.1882_1884delinsAA (p.Tyr628fs)
NM_001042492.3(NF1):c.1997_1998del (p.Ser666fs)
NM_001042492.3(NF1):c.2100dup (p.Glu701Ter)
NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs) rs1597712665
NM_001042492.3(NF1):c.2276_2291del (p.Val759fs)
NM_001042492.3(NF1):c.2293del (p.Arg765fs) rs1597713360
NM_001042492.3(NF1):c.2294del (p.Arg765fs) rs2151426934
NM_001042492.3(NF1):c.2325+1G>C
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer) rs771115661
NM_001042492.3(NF1):c.2576del (p.Gly859fs)
NM_001042492.3(NF1):c.2682del (p.Phe894fs)
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.2842del (p.Gln948fs) rs1555614354
NM_001042492.3(NF1):c.2850+1G>C
NM_001042492.3(NF1):c.2851-1G>C rs1597716274
NM_001042492.3(NF1):c.2952del (p.Gln985fs) rs1555614453
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys) rs1555614462
NM_001042492.3(NF1):c.2991-1G>C rs1060500273
NM_001042492.3(NF1):c.2991-2A>G rs1555614495
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
NM_001042492.3(NF1):c.319dup (p.Thr107fs)
NM_001042492.3(NF1):c.3314+2T>G rs863224445
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3611G>T (p.Arg1204Leu) rs1057521848
NM_001042492.3(NF1):c.3656G>A (p.Gly1219Glu) rs878853885
NM_001042492.3(NF1):c.3682del (p.Ala1228fs)
NM_001042492.3(NF1):c.3686_3690del (p.Asn1229fs)
NM_001042492.3(NF1):c.3878del (p.Gly1293fs)
NM_001042492.3(NF1):c.4070del (p.Phe1357fs) rs1555617354
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg) rs2151451647
NM_001042492.3(NF1):c.4235G>T (p.Arg1412Ile)
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs) rs1567862349
NM_001042492.3(NF1):c.449del (p.Phe150fs) rs1567817974
NM_001042492.3(NF1):c.454_458del (p.Ala152fs)
NM_001042492.3(NF1):c.4725-1G>A rs1555619391
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer) rs2151470108
NM_001042492.3(NF1):c.4791del (p.Thr1598fs)
NM_001042492.3(NF1):c.4889_4899del (p.Thr1630fs)
NM_001042492.3(NF1):c.4903del (p.Tyr1635fs)
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter) rs2069329774
NM_001042492.3(NF1):c.5029del (p.Val1677fs)
NM_001042492.3(NF1):c.5223del (p.His1741fs)
NM_001042492.3(NF1):c.5269-19C>A rs755620051
NM_001042492.3(NF1):c.5269-38A>G rs2151540615
NM_001042492.3(NF1):c.5296del (p.Ser1766fs)
NM_001042492.3(NF1):c.5297del (p.Thr1765_Ser1766insTer)
NM_001042492.3(NF1):c.5476C>A (p.His1826Asn) rs1135402871
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro) rs2151541565
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu) rs1567613616
NM_001042492.3(NF1):c.5736T>G (p.Ser1912Arg)
NM_001042492.3(NF1):c.5813-1G>A rs1057518974
NM_001042492.3(NF1):c.5861C>A (p.Ser1954Ter)
NM_001042492.3(NF1):c.6023A>T (p.Asp2008Val) rs2069668717
NM_001042492.3(NF1):c.6179_6183del (p.Lys2060fs)
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter) rs2069684411
NM_001042492.3(NF1):c.6275del (p.Asn2092fs) rs1555534697
NM_001042492.3(NF1):c.6355dup (p.Arg2119fs)
NM_001042492.3(NF1):c.6459_6476del (p.Thr2154_Pro2159del)
NM_001042492.3(NF1):c.6512dup (p.Ser2172fs)
NM_001042492.3(NF1):c.6819+3del rs2069728377
NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter)
NM_001042492.3(NF1):c.6921+3A>G rs1085307885
NM_001042492.3(NF1):c.702_708del (p.Tyr235fs) rs2066139158
NM_001042492.3(NF1):c.7386_7387insA (p.Leu2463fs)
NM_001042492.3(NF1):c.7387_7388dup (p.Thr2464fs)
NM_001042492.3(NF1):c.7387del (p.Thr2464fs)
NM_001042492.3(NF1):c.7458-2A>G
NM_001042492.3(NF1):c.7646C>G (p.Ser2549Ter)
NM_001042492.3(NF1):c.7777_7778del (p.Leu2593fs)
NM_001042492.3(NF1):c.7894_7895del (p.Thr2631_Asp2632insTer)
NM_001042492.3(NF1):c.7926C>A (p.Tyr2642Ter)
NM_001042492.3(NF1):c.7971-321C>G rs2070316606
NM_001042492.3(NF1):c.8136G>A (p.Trp2712Ter)
NM_001042492.3(NF1):c.8194del (p.Val2732fs)
NM_001042492.3(NF1):c.862_868dup (p.Asp290delinsGlyGlyTer)
NM_001042492.3(NF1):c.966dup (p.Ala323fs)
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.295T>C (p.Cys99Arg) rs104895228
NM_001065.4(TNFRSF1A):c.305G>T (p.Cys102Phe) rs1555108112
NM_001065.4(TNFRSF1A):c.349T>G (p.Cys117Gly)
NM_001065.4(TNFRSF1A):c.361C>T (p.Arg121Trp) rs104895276
NM_001065.4(TNFRSF1A):c.472+1G>A rs104895287
NM_001065.4(TNFRSF1A):c.596T>A (p.Ile199Asn) rs104895247
NM_001065.4(TNFRSF1A):c.950_951insTG (p.Tyr318fs)
NM_001079.4(ZAP70):c.109C>G (p.Arg37Gly) rs1573261820
NM_001079668.3(NKX2-1):c.436G>A (p.Ala146Thr) rs1594406727
NM_001083116.3(PRF1):c.1046T>C (p.Leu349Pro) rs1848169364
NM_001083116.3(PRF1):c.1120T>G (p.Trp374Gly) rs1060499556
NM_001083116.3(PRF1):c.116C>A (p.Pro39His)
NM_001083116.3(PRF1):c.1175del (p.Pro392fs) rs1554867753
NM_001083116.3(PRF1):c.1180C>T (p.Gln394Ter)
NM_001083116.3(PRF1):c.1183T>C (p.Cys395Arg) rs2132475562
NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs) rs1361687182
NM_001083116.3(PRF1):c.1284G>A (p.Trp428Ter)
NM_001083116.3(PRF1):c.134G>A (p.Gly45Glu)
NM_001083116.3(PRF1):c.147C>A (p.Asp49Glu) rs761310644
NM_001083116.3(PRF1):c.148G>A (p.Val50Met) rs776299562
NM_001083116.3(PRF1):c.1610_1611del (p.Tyr537fs)
NM_001083116.3(PRF1):c.1A>G (p.Met1Val) rs1848222357
NM_001083116.3(PRF1):c.208G>T (p.Asp70Tyr)
NM_001083116.3(PRF1):c.256C>T (p.Gln86Ter) rs1589233357
NM_001083116.3(PRF1):c.577T>C (p.Phe193Leu)
NM_001083116.3(PRF1):c.694C>T (p.Arg232Cys)
NM_001083116.3(PRF1):c.769T>G (p.Cys257Gly) rs2132476466
NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)
NM_001083116.3(PRF1):c.963del (p.Glu323fs) rs2132476029
NM_001083116.3(PRF1):c.985dup (p.Val329fs) rs1848171715
NM_001085487.3(MYSM1):c.1146_1149del (p.Asp382fs)
NM_001098426.2(SMARCD2):c.391C>T (p.Gln131Ter)
NM_001098426.2(SMARCD2):c.568-1G>C rs112986541
NM_001098426.2(SMARCD2):c.574C>T (p.Arg192Ter) rs758123382
NM_001098426.2(SMARCD2):c.654del (p.Gly220fs) rs2144630306
NM_001099857.5(IKBKG):c.262GAG[1] (p.Glu89del) rs386134238
NM_001099857.5(IKBKG):c.41_56dup (p.Pro20fs) rs2148368738
NM_001099857.5(IKBKG):c.470A>C (p.Gln157Pro) rs386134240
NM_001099857.5(IKBKG):c.931G>A (p.Asp311Asn) rs179363867
NM_001111.5(ADAR):c.1602-2A>G
NM_001111.5(ADAR):c.1786-1G>C
NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr) rs398122893
NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr) rs398122897
NM_001111.5(ADAR):c.2675G>A (p.Arg892His) rs398122892
NM_001111.5(ADAR):c.2763-1G>A
NM_001111.5(ADAR):c.2763-2A>G rs2101579172
NM_001111.5(ADAR):c.2886-1del rs1696896431
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn) rs398122896
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3215G>T (p.Ser1072Ile) rs1553207540
NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs) rs2101563488
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe) rs398122895
NM_001111.5(ADAR):c.3337G>C (p.Asp1113His) rs398122894
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter) rs1571046959
NM_001111.5(ADAR):c.3364A>C (p.Lys1122Gln)
NM_001111.5(ADAR):c.665_666insGGAGCCAAGGAGCCCCAAA (p.Asn222fs) rs1571110158
NM_001111.5(ADAR):c.758G>A (p.Trp253Ter) rs2101642015
NM_001113378.2(FANCI):c.1024C>T (p.Gln342Ter)
NM_001113378.2(FANCI):c.1055del (p.Asn352fs)
NM_001113378.2(FANCI):c.1112+2T>C
NM_001113378.2(FANCI):c.1113-1G>A rs2151485792
NM_001113378.2(FANCI):c.1148dup (p.Glu384fs)
NM_001113378.2(FANCI):c.1186A>T (p.Lys396Ter)
NM_001113378.2(FANCI):c.1246C>T (p.Gln416Ter)
NM_001113378.2(FANCI):c.1293+1G>A rs768310043
NM_001113378.2(FANCI):c.1293+1G>T
NM_001113378.2(FANCI):c.1293+2T>G
NM_001113378.2(FANCI):c.1381+1G>T
NM_001113378.2(FANCI):c.1467del (p.Leu491fs)
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>A
NM_001113378.2(FANCI):c.1584-1G>C
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
NM_001113378.2(FANCI):c.165del (p.Cys56fs)
NM_001113378.2(FANCI):c.1694dup (p.Ser565fs)
NM_001113378.2(FANCI):c.1698+1G>A
NM_001113378.2(FANCI):c.1699-2A>C
NM_001113378.2(FANCI):c.1751del (p.Cys584fs)
NM_001113378.2(FANCI):c.1890+1G>T
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
NM_001113378.2(FANCI):c.1933_1934del (p.Leu645fs)
NM_001113378.2(FANCI):c.1967dup (p.Asp656fs)
NM_001113378.2(FANCI):c.1981C>T (p.Gln661Ter)
NM_001113378.2(FANCI):c.2059C>T (p.Gln687Ter)
NM_001113378.2(FANCI):c.2084_2088del (p.Glu695fs)
NM_001113378.2(FANCI):c.2097C>G (p.Tyr699Ter)
NM_001113378.2(FANCI):c.2142dup (p.Lys715Ter)
NM_001113378.2(FANCI):c.2162_2163del (p.Asp720_Phe721insTer)
NM_001113378.2(FANCI):c.2169+1G>A
NM_001113378.2(FANCI):c.2169+2T>C
NM_001113378.2(FANCI):c.2216del (p.Asn739fs)
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.2332dup (p.Tyr778fs) rs1567165630
NM_001113378.2(FANCI):c.2340del (p.Lys780fs)
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) rs758062617
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
NM_001113378.2(FANCI):c.2456+1G>A
NM_001113378.2(FANCI):c.2457-2A>G rs2054196709
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
NM_001113378.2(FANCI):c.249del (p.Glu84fs)
NM_001113378.2(FANCI):c.2578del (p.Ser860fs)
NM_001113378.2(FANCI):c.2626del (p.Asp876fs)
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
NM_001113378.2(FANCI):c.2637-1G>C
NM_001113378.2(FANCI):c.2637-1G>T
NM_001113378.2(FANCI):c.2656_2657del (p.Thr886fs)
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
NM_001113378.2(FANCI):c.2693_2694del (p.Lys898fs)
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs) rs745893292
NM_001113378.2(FANCI):c.2697_2698del (p.Lys900fs)
NM_001113378.2(FANCI):c.2726T>A (p.Leu909Ter)
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) rs1359408831
NM_001113378.2(FANCI):c.2804-1G>C rs2054480330
NM_001113378.2(FANCI):c.2804-2A>G
NM_001113378.2(FANCI):c.2804-2A>T
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) rs2054482551
NM_001113378.2(FANCI):c.2889+1G>A
NM_001113378.2(FANCI):c.2889+2T>C
NM_001113378.2(FANCI):c.289-2A>G
NM_001113378.2(FANCI):c.2890-2A>C
NM_001113378.2(FANCI):c.2907_2908del (p.Leu969fs)
NM_001113378.2(FANCI):c.295del (p.His99fs) rs759398314
NM_001113378.2(FANCI):c.2975T>A (p.Leu992Ter)
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.3007-1G>T
NM_001113378.2(FANCI):c.3058+1G>C
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
NM_001113378.2(FANCI):c.3117T>G (p.Tyr1039Ter)
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) rs907106559
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) rs1596324325
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
NM_001113378.2(FANCI):c.3187-2A>G
NM_001113378.2(FANCI):c.3200_3201insCCAC (p.Glu1067fs)
NM_001113378.2(FANCI):c.3255+1G>C rs779079622
NM_001113378.2(FANCI):c.3291_3297delinsCTGGT (p.Glu1097fs)
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
NM_001113378.2(FANCI):c.3538-2A>T rs1407605188
NM_001113378.2(FANCI):c.3544C>T (p.Gln1182Ter)
NM_001113378.2(FANCI):c.3578dup (p.Asn1193fs)
NM_001113378.2(FANCI):c.358dup (p.Ser120fs)
NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs) rs1567175626
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.3645C>G (p.Tyr1215Ter)
NM_001113378.2(FANCI):c.3652-1G>T
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs) rs1567179036
NM_001113378.2(FANCI):c.3688_3689del (p.Lys1230fs)
NM_001113378.2(FANCI):c.3799del (p.Leu1267fs)
NM_001113378.2(FANCI):c.3805A>T (p.Lys1269Ter)
NM_001113378.2(FANCI):c.3829C>T (p.Gln1277Ter)
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113378.2(FANCI):c.3924+1G>A rs864622739
NM_001113378.2(FANCI):c.3924+2T>C
NM_001113378.2(FANCI):c.422del (p.Lys141fs)
NM_001113378.2(FANCI):c.446-2A>G
NM_001113378.2(FANCI):c.446del
NM_001113378.2(FANCI):c.475_481del (p.Gln159fs)
NM_001113378.2(FANCI):c.490del (p.Leu164fs)
NM_001113378.2(FANCI):c.504-2A>G
NM_001113378.2(FANCI):c.542_545+57del
NM_001113378.2(FANCI):c.545+1G>T
NM_001113378.2(FANCI):c.578_589del (p.Phe193_Lys197delinsTer)
NM_001113378.2(FANCI):c.669+1G>T
NM_001113378.2(FANCI):c.679_682del (p.Lys227fs) rs2151304648
NM_001113378.2(FANCI):c.685_686del (p.Val229fs)
NM_001113378.2(FANCI):c.701_702del (p.Ile234fs)
NM_001113378.2(FANCI):c.739del (p.Glu247fs)
NM_001113378.2(FANCI):c.76_77del (p.Glu26fs)
NM_001113378.2(FANCI):c.782C>G (p.Ser261Ter)
NM_001113378.2(FANCI):c.823_824del (p.Ile275fs)
NM_001113378.2(FANCI):c.834del (p.Ile279fs) rs748961800
NM_001113378.2(FANCI):c.84+2_84+3del
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
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.876_879del (p.His292fs) rs2053066105
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.886G>T (p.Gly296Ter) rs754986558
NM_001113378.2(FANCI):c.889C>T (p.Gln297Ter)
NM_001113378.2(FANCI):c.976-1G>T
NM_001113378.2(FANCI):c.996_997del (p.Ser333fs)
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) rs761982725
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_001127208.3(TET2):c.1438C>T (p.Pro480Ser) rs1578673280
NM_001127208.3(TET2):c.2188del (p.Thr730fs)
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) rs863225436
NM_001130145.3(YAP1):c.488C>G (p.Ser163Cys) rs1591100766
NM_001136139.4(TCF3):c.1643_1649dup (p.Asn551fs)
NM_001136139.4(TCF3):c.1693G>A (p.Ala565Thr) rs1599413207
NM_001142864.4(PIEZO1):c.113TGC[3] (p.Leu41del)
NM_001142864.4(PIEZO1):c.1297-1G>A rs1905219617
NM_001142864.4(PIEZO1):c.3154C>T (p.Gln1052Ter)
NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe) rs1904821405
NM_001142864.4(PIEZO1):c.4341del (p.Tyr1448fs)
NM_001142864.4(PIEZO1):c.4373_4387delinsCGGCAGCAGG (p.Val1458fs) rs1904297127
NM_001142864.4(PIEZO1):c.4955+1G>A
NM_001142864.4(PIEZO1):c.5040C>A (p.Tyr1680Ter)
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter) rs72811487
NM_001142864.4(PIEZO1):c.5290G>T (p.Glu1764Ter) rs749976222
NM_001142864.4(PIEZO1):c.6208A>C (p.Lys2070Gln) rs1567659736
NM_001142864.4(PIEZO1):c.7486GAG[2] (p.Glu2498del)
NM_001143676.3(SGK1):c.1379A>G (p.Asn460Ser) rs1171390403
NM_001144061.2(COPB1):c.1651T>G (p.Phe551Val) rs1850476947
NM_001145252.3(CFP):c.767-2A>T
NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter) rs1603272191
NM_001164277.1(SLC37A4):c.529_533del rs2089891548
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs) rs1943525176
NM_001164277.2(SLC37A4):c.1063_1064insTTGGG (p.Glu355fs)
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
NM_001164277.2(SLC37A4):c.1082del (p.Leu361fs)
NM_001164277.2(SLC37A4):c.1110_1117dup (p.Ala373fs)
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.1125-1G>A rs782202675
NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)
NM_001164277.2(SLC37A4):c.1201del (p.Glu401fs)
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) rs2134626266
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.148+2T>A
NM_001164277.2(SLC37A4):c.148+2T>C rs1449998297
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg) rs193302884
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter) rs374848317
NM_001164277.2(SLC37A4):c.188_189delinsT (p.Ser63fs)
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg) rs193302885
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter) rs781857990
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu) rs2134640168
NM_001164277.2(SLC37A4):c.269_270insTGGCTCCTGGT (p.Asn91fs) rs1555191580
NM_001164277.2(SLC37A4):c.276dup (p.Phe93fs) rs1555191573
NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu)
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.356_359dup (p.Cys121fs)
NM_001164277.2(SLC37A4):c.365G>A (p.Gly122Glu)
NM_001164277.2(SLC37A4):c.370del (p.Val124fs) rs1555191512
NM_001164277.2(SLC37A4):c.381+1G>A rs786204637
NM_001164277.2(SLC37A4):c.382-1G>T
NM_001164277.2(SLC37A4):c.382-1del rs1555191406
NM_001164277.2(SLC37A4):c.382-2A>G
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs) rs2134638421
NM_001164277.2(SLC37A4):c.494delinsACA (p.Trp165fs)
NM_001164277.2(SLC37A4):c.529del (p.Val177fs)
NM_001164277.2(SLC37A4):c.530_531dup (p.Val178fs)
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs) rs1474282972
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs) rs1943676862
NM_001164277.2(SLC37A4):c.637del (p.Glu213fs)
NM_001164277.2(SLC37A4):c.649delinsGG (p.Leu217fs)
NM_001164277.2(SLC37A4):c.671dup (p.Tyr225fs)
NM_001164277.2(SLC37A4):c.676del (p.Leu226fs) rs1555191105
NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter) rs2134635160
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs) rs781869215
NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His) rs193302887
NM_001164277.2(SLC37A4):c.721dup (p.Thr241fs)
NM_001164277.2(SLC37A4):c.726C>A (p.Cys242Ter)
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg) rs193302878
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
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.788G>A (p.Ser263Asn)
NM_001164277.2(SLC37A4):c.805del (p.Leu269fs) rs1555190992
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro) rs1555190969
NM_001164277.2(SLC37A4):c.845_848del (p.Tyr282fs) rs1555190956
NM_001164277.2(SLC37A4):c.871+1G>A
NM_001164277.2(SLC37A4):c.872-1G>A
NM_001164277.2(SLC37A4):c.872-2A>C rs920196110
NM_001164277.2(SLC37A4):c.872-8_881del
NM_001164277.2(SLC37A4):c.882dup (p.Asn295fs)
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro) rs193302891
NM_001164277.2(SLC37A4):c.912_913insGC (p.Leu305fs) rs1555190745
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del) rs1432360280
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
NM_001164277.2(SLC37A4):c.95_97del (p.Ser32del)
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs) rs1592109970
NM_001164277.2(SLC37A4):c.969_975del (p.Ser324fs)
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs) rs2134631242
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs) rs1001301633
NM_001164277.2(SLC37A4):c.985+1G>A rs1943553565
NM_001164277.2(SLC37A4):c.986-1G>A
NM_001164277.2(SLC37A4):c.986-3_989del rs1555190559
NM_001166345.3(MDFIC):c.255_256delinsAT (p.Gln86Ter)
NM_001167.4(XIAP):c.-32-5232_878-647del
NM_001167.4(XIAP):c.1099+2T>C rs2148097889
NM_001167.4(XIAP):c.1317_1318delinsAT (p.Gln440Ter) rs2148112156
NM_001167.4(XIAP):c.542C>T (p.Pro181Leu)
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg) rs1602544454
NM_001183.6(ATP6AP1):c.1036G>A (p.Glu346Lys) rs878853277
NM_001183.6(ATP6AP1):c.220C>G (p.Leu74Val)
NM_001183.6(ATP6AP1):c.230_232del (p.Tyr77del) rs2148221946
NM_001183.6(ATP6AP1):c.289-233C>T
NM_001183.6(ATP6AP1):c.530T>C (p.Leu177Pro)
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg) rs751713049
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.1316C>T (p.Ala439Val) rs121908146
NM_001243133.2(NLRP3):c.1573G>A (p.Glu525Lys) rs180177458
NM_001243133.2(NLRP3):c.1699G>A (p.Glu567Lys) rs104895389
NM_001243133.2(NLRP3):c.1700A>C (p.Glu567Ala) rs2103112233
NM_001243133.2(NLRP3):c.1706G>A (p.Gly569Glu)
NM_001243133.2(NLRP3):c.1712T>G (p.Leu571Trp)
NM_001243133.2(NLRP3):c.1976T>G (p.Met659Arg) rs180177457
NM_001243133.2(NLRP3):c.1985T>C (p.Met662Thr) rs180177435
NM_001243133.2(NLRP3):c.2263G>C (p.Gly755Arg) rs180177469
NM_001243133.2(NLRP3):c.2264G>C (p.Gly755Ala) rs180177473
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His) rs2103174031
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys) rs180177452
NM_001243133.2(NLRP3):c.515T>C (p.Ile172Thr) rs180177449
NM_001243133.2(NLRP3):c.779G>C (p.Arg260Pro) rs180177442
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln) rs1590753221
NM_001258392.3(CLPB):c.760G>T (p.Glu254Ter)
NM_001282933.2(ZNF341):c.1054T>C (p.Cys352Arg) rs2122686345
NM_001282933.2(ZNF341):c.98C>T (p.Pro33Leu)
NM_001287491.2(TET3):c.2362G>A (p.Glu788Lys) rs751524927
NM_001288705.3(CSF1R):c.1711T>G (p.Tyr571Asp) rs1057519802
NM_001289125.3(IFNAR2):c.158_160del (p.Ser53del)
NM_001290043.2(TAP2):c.1635+1G>C
NM_001290043.2(TAP2):c.217_218del (p.Thr73fs) rs1321880935
NM_001290043.2(TAP2):c.494-2A>G rs2127367115
NM_001290043.2(TAP2):c.814_815delinsC (p.Leu272fs)
NM_001304717.5(PTEN):c.140GGC[5] (p.Arg52del)
NM_001322934.2(NFKB2):c.104-1G>C rs2061116343
NM_001322934.2(NFKB2):c.1359_1363dup (p.Gln455fs)
NM_001322934.2(NFKB2):c.2576_2580del (p.Thr859fs) rs1565214594
NM_001322934.2(NFKB2):c.2595_2596del (p.Asp865fs) rs2061278560
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) rs867384286
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys) rs867384286
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His) rs1057519895
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro) rs1057519895
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu) rs1057519895
NM_001349798.2(FBXW7):c.1513C>A (p.Arg505Ser) rs149680468
NM_001349798.2(FBXW7):c.1513C>G (p.Arg505Gly) rs149680468
NM_001349798.2(FBXW7):c.1513C>T (p.Arg505Cys) rs149680468
NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_001349798.2(FBXW7):c.1514G>T (p.Arg505Leu) rs1057519896
NM_001354930.2(RIPK1):c.1682_1683insAAAA (p.Asn561fs)
NM_001354930.2(RIPK1):c.954del (p.Met318fs) rs1561772403
NM_001364905.1(LRBA):c.1319del (p.Pro440fs)
NM_001364905.1(LRBA):c.1923_1924+11del rs755373718
NM_001364905.1(LRBA):c.1924+2T>A rs1730552437
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
NM_001364905.1(LRBA):c.216+1G>C
NM_001364905.1(LRBA):c.2166-1G>C rs2127009232
NM_001364905.1(LRBA):c.2197G>T (p.Glu733Ter)
NM_001364905.1(LRBA):c.2259-2A>G rs2127004616
NM_001364905.1(LRBA):c.2449+1G>A
NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter)
NM_001364905.1(LRBA):c.2767-2A>G rs1350061017
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter) rs1578999313
NM_001364905.1(LRBA):c.3985_3986del (p.Asp1329fs)
NM_001364905.1(LRBA):c.4139C>G (p.Ser1380Ter)
NM_001364905.1(LRBA):c.4158+1G>C
NM_001364905.1(LRBA):c.4159-1G>T rs1750245794
NM_001364905.1(LRBA):c.4239del (p.Val1414fs) rs2126905499
NM_001364905.1(LRBA):c.4466del (p.Pro1489fs)
NM_001364905.1(LRBA):c.4759_4762del (p.Thr1587fs)
NM_001364905.1(LRBA):c.476_549+580del
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter) rs1484948342
NM_001364905.1(LRBA):c.5011dup (p.Ser1671fs)
NM_001364905.1(LRBA):c.5518+2T>C rs532289025
NM_001364905.1(LRBA):c.5519-1G>A rs1302362911
NM_001364905.1(LRBA):c.5629del (p.Val1878fs)
NM_001364905.1(LRBA):c.5645+1G>C
NM_001364905.1(LRBA):c.5755-1G>C
NM_001364905.1(LRBA):c.5921+1G>A
NM_001364905.1(LRBA):c.6194-2A>G
NM_001364905.1(LRBA):c.6331-2A>G rs2152104087
NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149fs) rs1561254290
NM_001364905.1(LRBA):c.6551+1G>T
NM_001364905.1(LRBA):c.6624_6625del (p.Glu2208fs) rs727503779
NM_001364905.1(LRBA):c.7363-1G>T
NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs) rs1580974401
NM_001364905.1(LRBA):c.7850-1G>A rs1729842757
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs) rs1264504989
NM_001364905.1(LRBA):c.863del (p.His288fs) rs2149489382
NM_001364905.1(LRBA):c.928C>T (p.Arg310Ter)
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.-2dup rs2149031468
NM_001367916.1(MAGT1):c.399del (p.Met133fs) rs1603361811
NM_001367916.1(MAGT1):c.468dup (p.Gln157fs)
NM_001367916.1(MAGT1):c.490G>T (p.Glu164Ter) rs2149018425
NM_001367916.1(MAGT1):c.673-1G>A rs2149017840
NM_001367916.1(MAGT1):c.738dup (p.Lys247Ter)
NM_001367916.1(MAGT1):c.762+1G>A
NM_001367916.1(MAGT1):c.827-1_838del rs1603359848
NM_001369369.1(FOXN1):c.1010del (p.Gly337fs) rs2151497970
NM_001369369.1(FOXN1):c.1049C>T (p.Pro350Leu)
NM_001369369.1(FOXN1):c.1135+1_1135+2delinsAG rs1064795660
NM_001369369.1(FOXN1):c.1168del (p.Glu390fs)
NM_001369369.1(FOXN1):c.1275_1278del (p.Leu426fs)
NM_001369369.1(FOXN1):c.1296del (p.Ile433fs)
NM_001369369.1(FOXN1):c.1315del (p.Leu439fs) rs1064796227
NM_001369369.1(FOXN1):c.1364_1367del (p.Tyr455fs) rs2151499024
NM_001369369.1(FOXN1):c.1367T>A (p.Leu456Ter)
NM_001369369.1(FOXN1):c.1392_1401del (p.Pro465fs) rs1597567985
NM_001369369.1(FOXN1):c.1418del (p.Pro473fs) rs1597568117
NM_001369369.1(FOXN1):c.1465del (p.Gln489fs) rs1169577591
NM_001369369.1(FOXN1):c.1579_1580del (p.Gly526_Thr527insTer)
NM_001369369.1(FOXN1):c.1585del (p.Leu529fs) rs1161194345
NM_001369369.1(FOXN1):c.699+1G>T rs1555609768
NM_001369369.1(FOXN1):c.723C>A (p.Tyr241Ter) rs2151491863
NM_001369369.1(FOXN1):c.880G>C (p.Val294Leu) rs1406320425
NM_001369369.1(FOXN1):c.907del (p.Glu303fs) rs1064796115
NM_001369369.1(FOXN1):c.928-2A>G rs2151497815
NM_001369369.1(FOXN1):c.962A>G (p.His321Arg) rs1057524466
NM_001369369.1(FOXN1):c.974T>C (p.Leu325Pro) rs1597566470
NM_001370466.1(NOD2):c.1390A>C (p.Met464Leu) rs2150810705
NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr) rs104895473
NM_001374828.1(ARID1B):c.6300del (p.Lys2100fs)
NM_001375808.2(LPIN2):c.1451_1456+6del rs2077209051
NM_001375808.2(LPIN2):c.1871del (p.Thr624fs)
NM_001375808.2(LPIN2):c.1938+1G>A
NM_001375808.2(LPIN2):c.2086_2087+39del rs1598522408
NM_001375808.2(LPIN2):c.2442+3_2442+6del rs2144115996
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_001375808.2(LPIN2):c.838C>T (p.Arg280Ter) rs759667494
NM_001378328.1(CELSR1):c.2042del (p.Asn681fs) rs1569226110
NM_001378328.1(CELSR1):c.5512C>T (p.Arg1838Ter)
NM_001378328.1(CELSR1):c.5702-1G>C rs1569133268
NM_001378328.1(CELSR1):c.868G>T (p.Glu290Ter) rs1569227576
NM_001378687.1(ATP2C1):c.1402C>T (p.Arg468Ter) rs137853013
NM_001378687.1(ATP2C1):c.1570+3A>C
NM_001378687.1(ATP2C1):c.1840-4del
NM_001378687.1(ATP2C1):c.1840_1844del (p.Val614fs)
NM_001378687.1(ATP2C1):c.661A>G (p.Thr221Ala)
NM_001378743.1(CYLD):c.2040dup (p.Asp681fs) rs1597073318
NM_001379200.1(TBX1):c.437+1G>C
NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro) rs1936727304
NM_001379200.1(TBX1):c.61G>A (p.Ala21Thr)
NM_001379200.1(TBX1):c.711+1G>A rs1731409120
NM_001379451.1(BCORL1):c.2242C>T (p.Gln748Ter) rs1603113792
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_001395891.1(CLASP1):c.196-562G>C
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001395891.1(CLASP1):c.[196-571C>T];[196-670T>G]
NM_001400225.1(MGA):c.3733G>C (p.Glu1245Gln) rs1595889508
NM_001412.4(EIF1AX):c.295G>A (p.Glu99Lys) rs1603415028
NM_001430.5(EPAS1):c.1601C>T (p.Pro534Leu)
NM_001556.3(IKBKB):c.1365-2A>C
NM_001556.3(IKBKB):c.1673del (p.Gly558fs)
NM_001556.3(IKBKB):c.2205+2T>C rs2130736002
NM_001556.3(IKBKB):c.923dup (p.Asn308fs)
NM_001558.4(IL10RA):c.493C>T (p.Arg165Ter)
NM_001558.4(IL10RA):c.787C>T (p.Arg263Ter) rs1192830343
NM_001625.4(AK2):c.307C>T (p.Arg103Trp) rs267606648
NM_001625.4(AK2):c.330+1G>C rs1639559794
NM_001625.4(AK2):c.498_499dup (p.Ile167fs) rs1638975235
NM_001625.4(AK2):c.499-1_499insATGAC (p.Ile167fs) rs1398317449
NM_001625.4(AK2):c.523C>G (p.Arg175Gly) rs1375379850
NM_001625.4(AK2):c.524G>C (p.Arg175Pro) rs1243124080
NM_001625.4(AK2):c.600C>G (p.Tyr200Ter) rs1638959411
NM_001625.4(AK2):c.614_615del (p.Gly205fs) rs746465070
NM_001734.5(C1S):c.1729_1730del (p.Asp577fs)
NM_001735.3(C5):c.4336del (p.Val1446fs) rs1554718962
NM_001737.5(C9):c.1038_1042delinsT (p.Ser347fs) rs1753477155
NM_001737.5(C9):c.1039_1042del (p.Ser347fs) rs1027370764
NM_001737.5(C9):c.1184_1185del (p.Ser395fs) rs752437276
NM_001737.5(C9):c.162C>A (p.Cys54Ter) rs34000044
NM_001737.5(C9):c.184-1G>A
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs) rs2145875208
NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu) rs1473182680
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
NM_001754.5(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.5(RUNX1):c.486G>C (p.Arg162Ser) rs1057519749
NM_001754.5(RUNX1):c.486G>T (p.Arg162Ser) rs1057519749
NM_001754.5(RUNX1):c.508+2T>C rs1601515707
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001754.5(RUNX1):c.777_778dup (p.Asn260fs)
NM_001770.6(CD19):c.1198+2T>G rs1596718225
NM_001783.4(CD79A):c.379+1G>A rs1555843601
NM_001783.4(CD79A):c.499-1G>A
NM_001805.4(CEBPE):c.653T>C (p.Val218Ala) rs747524697
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.1280A>C (p.Asn427Thr)
NM_001814.6(CTSC):c.173-2A>C
NM_001814.6(CTSC):c.189del (p.Lys63_Val64insTer)
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) rs199474831
NM_001814.6(CTSC):c.360_362dup (p.Thr121dup)
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_001844.5(COL2A1):c.193G>A (p.Asp65Asn) rs1940156255
NM_001844.5(COL2A1):c.3936G>T (p.Lys1312Asn) rs745788222
NM_001928.4(CFD):c.56-1G>C rs1021715434
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.182C>T (p.Ala61Val) rs137854447
NM_001972.4(ELANE):c.197T>G (p.Met66Arg)
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe) rs878855315
NM_001972.4(ELANE):c.242G>C (p.Arg81Pro) rs762470485
NM_001972.4(ELANE):c.362T>G (p.Leu121Arg)
NM_001972.4(ELANE):c.367-1G>A
NM_001972.4(ELANE):c.368T>C (p.Leu123Pro) rs2145148405
NM_001972.4(ELANE):c.413T>A (p.Leu138Gln)
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_001972.4(ELANE):c.458C>A (p.Ala153Asp)
NM_001972.4(ELANE):c.570G>A (p.Val190=)
NM_001972.4(ELANE):c.581_597dup (p.Gly200fs)
NM_001972.4(ELANE):c.583del (p.Ala195fs)
NM_001972.4(ELANE):c.598-3C>G rs730880095
NM_001972.4(ELANE):c.602del (p.Asp201fs) rs2035673569
NM_001972.4(ELANE):c.607G>A (p.Gly203Ser)
NM_001972.4(ELANE):c.618G>C (p.Leu206Phe) rs137854446
NM_001972.4(ELANE):c.622T>G (p.Cys208Gly) rs2145149526
NM_001972.4(ELANE):c.641G>A (p.Gly214Glu) rs1555710089
NM_001972.4(ELANE):c.661G>T (p.Gly221Ter) rs2035675760
NM_001972.4(ELANE):c.674C>G (p.Ser225Ter)
NM_001972.4(ELANE):c.731_732del (p.Ser244fs)
NM_001987.5(ETV6):c.33+1G>A
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) rs267606870
NM_002168.4(IDH2):c.419G>T (p.Arg140Leu) rs121913502
NM_002168.4(IDH2):c.514A>G (p.Arg172Gly) rs1057519906
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp) rs1057519906
NM_002185.5(IL7R):c.135G>C (p.Gln45His) rs200464578
NM_002185.5(IL7R):c.205C>G (p.Leu69Val) rs1580851879
NM_002185.5(IL7R):c.235G>T (p.Glu79Ter) rs1354581284
NM_002185.5(IL7R):c.271_280dup (p.Ile94fs) rs193922640
NM_002185.5(IL7R):c.355A>T (p.Lys119Ter) rs1448018291
NM_002185.5(IL7R):c.394C>T (p.Pro132Ser) rs104893894
NM_002185.5(IL7R):c.41T>C (p.Leu14Ser) rs1759661333
NM_002185.5(IL7R):c.437_438del (p.Phe146fs) rs1561423197
NM_002185.5(IL7R):c.616_617delinsTA (p.Arg206Ter) rs193922643
NM_002185.5(IL7R):c.644G>T (p.Gly215Val) rs193922645
NM_002185.5(IL7R):c.704C>G (p.Ser235Ter) rs766555082
NM_002185.5(IL7R):c.788T>A (p.Leu263Ter)
NM_002185.5(IL7R):c.[160T>C;245G>T]
NM_002221.4(ITPKB):c.1222T>G (p.Ser408Ala)
NM_002221.4(ITPKB):c.1655C>A (p.Pro552Gln)
NM_002221.4(ITPKB):c.267CAGCGGCAG[1] (p.91GSS[1])
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe) rs1057519753
NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe) rs1655079234
NM_002296.4(LBR):c.235C>T (p.Arg79Ter)
NM_002351.5(SH2D1A):c.138-3C>G rs1556620697
NM_002351.5(SH2D1A):c.162C>A (p.Tyr54Ter)
NM_002351.5(SH2D1A):c.197_201+9del rs2060052777
NM_002351.5(SH2D1A):c.201+2T>C rs2147531379
NM_002351.5(SH2D1A):c.385T>C (p.Ter129Arg) rs111033625
NM_002351.5(SH2D1A):c.5A>G (p.Asp2Gly) rs1556619319
NM_002435.3(MPI):c.-1_3del (p.Met1fs) rs1555478015
NM_002435.3(MPI):c.1001_1002dup (p.Leu335fs)
NM_002435.3(MPI):c.1001_1004del (p.Tyr334fs) rs2141208628
NM_002435.3(MPI):c.1017_1024delinsACCCCTT (p.Asp339fs)
NM_002435.3(MPI):c.1022del (p.Pro341fs)
NM_002435.3(MPI):c.1022dup (p.Val342fs) rs765310894
NM_002435.3(MPI):c.1023del (p.Val342fs) rs1555479441
NM_002435.3(MPI):c.1030G>C (p.Asp344His)
NM_002435.3(MPI):c.1051G>T (p.Glu351Ter)
NM_002435.3(MPI):c.1054del rs752976348
NM_002435.3(MPI):c.1064_1065del (p.Ser355fs) rs2064839839
NM_002435.3(MPI):c.1087del (p.Ala363fs) rs2141209567
NM_002435.3(MPI):c.1124G>A (p.Gly375Glu) rs2064840907
NM_002435.3(MPI):c.1127_1128del (p.Thr376fs)
NM_002435.3(MPI):c.1134del (p.Ile378fs)
NM_002435.3(MPI):c.1154del (p.Gln385fs)
NM_002435.3(MPI):c.120del (p.Ile40fs) rs1057516466
NM_002435.3(MPI):c.130_133dup (p.Pro45fs)
NM_002435.3(MPI):c.138del (p.Pro45_Tyr46insTer)
NM_002435.3(MPI):c.144+1G>A
NM_002435.3(MPI):c.144+2T>C
NM_002435.3(MPI):c.145-1G>A rs1057516573
NM_002435.3(MPI):c.15_16+5del rs2141194911
NM_002435.3(MPI):c.16+1G>A
NM_002435.3(MPI):c.16+1G>T
NM_002435.3(MPI):c.16+2T>C
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.169G>A (p.Gly57Arg) rs1225376562
NM_002435.3(MPI):c.17-2A>C
NM_002435.3(MPI):c.17-2A>G
NM_002435.3(MPI):c.199dup (p.Ser67fs)
NM_002435.3(MPI):c.251C>A (p.Ser84Ter)
NM_002435.3(MPI):c.287del (p.Phe96fs)
NM_002435.3(MPI):c.319del (p.Leu107fs)
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter) rs1661886822
NM_002435.3(MPI):c.345+1G>A rs1555478333
NM_002435.3(MPI):c.391G>A (p.Asp131Asn)
NM_002435.3(MPI):c.413T>C (p.Met138Thr) rs104894495
NM_002435.3(MPI):c.419T>C (p.Ile140Thr)
NM_002435.3(MPI):c.432del (p.Phe145fs)
NM_002435.3(MPI):c.436C>T (p.Gln146Ter)
NM_002435.3(MPI):c.455G>A (p.Arg152Gln)
NM_002435.3(MPI):c.487+1G>A
NM_002435.3(MPI):c.488-1G>A rs759579169
NM_002435.3(MPI):c.497_498del (p.Glu166fs) rs2141200280
NM_002435.3(MPI):c.530dup (p.His178fs)
NM_002435.3(MPI):c.535del (p.His178_Leu179insTer) rs1555478582
NM_002435.3(MPI):c.56_65del (p.Gly19fs)
NM_002435.3(MPI):c.629del (p.Val210fs) rs1555478606
NM_002435.3(MPI):c.634C>T (p.Gln212Ter)
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
NM_002435.3(MPI):c.713del (p.Leu238fs) rs745432667
NM_002435.3(MPI):c.727C>T (p.Gln243Ter) rs749911553
NM_002435.3(MPI):c.740del (p.Gly247fs) rs1057517115
NM_002435.3(MPI):c.764A>G (p.Tyr255Cys)
NM_002435.3(MPI):c.796G>A (p.Glu266Lys) rs1595822583
NM_002435.3(MPI):c.802_803del (p.Met268fs) rs1555479227
NM_002435.3(MPI):c.818delinsTC (p.Asn273fs)
NM_002435.3(MPI):c.844+1G>A rs1394866894
NM_002435.3(MPI):c.844+2T>C
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_002435.3(MPI):c.84_88del (p.Arg29fs) rs753839890
NM_002435.3(MPI):c.875_879dup (p.Val294fs)
NM_002435.3(MPI):c.880dup (p.Val294fs) rs1555479351
NM_002435.3(MPI):c.89_113del (p.Leu30fs) rs1555478118
NM_002435.3(MPI):c.973del (p.Leu325fs)
NM_002435.3(MPI):c.991_1053+17del
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423
NM_002444.3(MSN):c.1601A>C (p.Asp534Ala) rs1602878106
NM_002447.4(MST1R):c.1477G>T (p.Asp493Tyr) rs1575446356
NM_002468.5(MYD88):c.103_104del (p.Leu35fs) rs776336832
NM_002468.5(MYD88):c.154GAG[1] (p.Glu53del) rs878852993
NM_002468.5(MYD88):c.463+1G>A rs2125777824
NM_002520.7(NPM1):c.862_863insCATG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.862_863insCCTG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.862_863insTCAG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.862_863insTCTG (p.Trp288fs) rs1057519744
NM_002524.5(NRAS):c.108A>G (p.Ile36Met) rs2101743991
NM_002524.5(NRAS):c.176C>A (p.Ala59Asp)
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>C (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.204A>T (p.Arg68Ser)
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002524.5(NRAS):c.449A>G (p.Gln150Arg) rs2101738598
NM_002661.5(PLCG2):c.1993C>T (p.Arg665Trp) rs1057519831
NM_002661.5(PLCG2):c.2535A>C (p.Leu845Phe) rs1057519832
NM_002661.5(PLCG2):c.2535A>T (p.Leu845Phe) rs1057519832
NM_002661.5(PLCG2):c.3420T>A (p.Asp1140Glu)
NM_002691.4(POLD1):c.3244C>T (p.Arg1082Cys) rs1307047144
NM_002709.3(PPP1CB):c.544A>G (p.Met182Val)
NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)
NM_002745.5(MAPK1):c.946T>C (p.Tyr316His)
NM_002755.4(MAP2K1):c.308T>C (p.Ile103Thr)
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala)
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly) rs727503996
NM_002834.5(PTPN11):c.1187A>G (p.Tyr396Cys)
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu) rs1592852902
NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu) rs397507536
NM_002834.5(PTPN11):c.1409T>C (p.Ile470Thr) rs2038706856
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1493G>A (p.Arg498Gln)
NM_002834.5(PTPN11):c.1495T>C (p.Ser499Pro)
NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.5(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1529A>T (p.Gln510Leu)
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002834.5(PTPN11):c.171G>T (p.Gln57His)
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.175_186dup (p.Thr59_Tyr62dup)
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala) rs121918461
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn) rs121918460
NM_002834.5(PTPN11):c.184T>C (p.Tyr62His)
NM_002834.5(PTPN11):c.186_188del (p.Tyr63del)
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys) rs397507511
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp) rs121918454
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln) rs121918464
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys) rs397516803
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter) rs2038154558
NM_002834.5(PTPN11):c.762ACA[4] (p.Gln257dup) rs397507524
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys) rs1279770165
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.5(PTPN11):c.784C>T (p.Leu262Phe)
NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.841A>G (p.Asn281Asp)
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002838.5(PTPRC):c.100+1del rs1665977328
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.3897T>G (p.Ser1299Arg)
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_002872.5(RAC2):c.184G>A (p.Glu62Lys) rs1555908409
NM_002875.5(RAD51):c.590C>T (p.Thr197Ile)
NM_002875.5(RAD51):c.772G>A (p.Glu258Lys) rs1555429629
NM_002875.5(RAD51):c.871ATC[1] (p.Ile292del)
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.4(RAF1):c.1172G>T (p.Arg391Met) rs587782972
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu) rs730881003
NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly) rs397516815
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.285C>G (p.Cys95Trp) rs727503384
NM_002880.4(RAF1):c.452T>C (p.Phe151Ser) rs587782971
NM_002880.4(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.4(RAF1):c.768G>C (p.Arg256Ser) rs397516826
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_002880.4(RAF1):c.775_778delinsAGGG (p.Ser259_Thr260delinsArgAla)
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_002880.4(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_002880.4(RAF1):c.779C>A (p.Thr260Lys) rs869025501
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_002880.4(RAF1):c.784A>C (p.Asn262His) rs1575573204
NM_002880.4(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_002880.4(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002880.4(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_002892.4(ARID4A):c.2614G>T (p.Glu872Ter) rs1594966387
NM_002957.6(RXRA):c.671G>A (p.Ser224Asn) rs1588299621
NM_003120.3(SPI1):c.573G>A (p.Trp191Ter)
NM_003120.3(SPI1):c.632A>C (p.His211Pro) rs2095906547
NM_003120.3(SPI1):c.689G>C (p.Arg230Pro)
NM_003120.3(SPI1):c.722T>G (p.Val241Gly) rs2095906404
NM_003177.7(SYK):c.1024C>A (p.Pro342Thr) rs1827861920
NM_003183.6(ADAM17):c.1344+1G>A
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_003183.6(ADAM17):c.851T>C (p.Ile284Thr) rs1664299326
NM_003200.5(TCF3):c.1338_1360del (p.Ser446fs) rs2061880735
NM_003331.5(TYK2):c.1011+2T>G
NM_003331.5(TYK2):c.1773+1G>T rs777488795
NM_003331.5(TYK2):c.193+1G>A
NM_003331.5(TYK2):c.2311+1G>T
NM_003331.5(TYK2):c.2466+1G>T
NM_003331.5(TYK2):c.629+2T>C
NM_003400.4(XPO1):c.1711G>A (p.Glu571Lys) rs1057520009
NM_003400.4(XPO1):c.1712A>C (p.Glu571Ala) rs1057520010
NM_003400.4(XPO1):c.1712A>T (p.Glu571Val) rs1057520010
NM_003467.3(CXCR4):c.1013C>A (p.Ser338Ter) rs104893626
NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs) rs730880320
NM_003467.3(CXCR4):c.950_953del (p.Leu317fs) rs1573613529
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003514.2(H2AC17):c.364G>A (p.Glu122Lys) rs1581495906
NM_003529.3(H3C1):c.400G>C (p.Glu134Gln) rs764264135
NM_003647.3(DGKE):c.1000C>T (p.Gln334Ter) rs312262697
NM_003647.3(DGKE):c.1A>T (p.Met1Leu) rs1906465563
NM_003647.3(DGKE):c.32C>A (p.Ser11Ter) rs148605410
NM_003647.3(DGKE):c.472dup (p.Trp158fs) rs312262698
NM_003647.3(DGKE):c.486dup (p.Val163fs) rs312262699
NM_003647.3(DGKE):c.818G>C (p.Arg273Pro) rs312262695
NM_003647.3(DGKE):c.889-1G>A rs312262696
NM_003647.3(DGKE):c.942C>G (p.Asn314Lys) rs749415630
NM_003664.5(AP3B1):c.1020del (p.Arg341fs)
NM_003664.5(AP3B1):c.1042G>T (p.Glu348Ter)
NM_003664.5(AP3B1):c.1206_1207del (p.Ser403fs)
NM_003664.5(AP3B1):c.129-1G>A
NM_003664.5(AP3B1):c.1364-2A>G rs2112357253
NM_003664.5(AP3B1):c.1379_1382dup (p.Ser461fs)
NM_003664.5(AP3B1):c.1474-2A>G
NM_003664.5(AP3B1):c.1521_1522del (p.Cys507_Glu508delinsTer)
NM_003664.5(AP3B1):c.1651-1G>A
NM_003664.5(AP3B1):c.1837+2T>C rs2112300864
NM_003664.5(AP3B1):c.1852C>T (p.Gln618Ter)
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
NM_003664.5(AP3B1):c.2078-1G>A
NM_003664.5(AP3B1):c.2297del (p.Asp766fs)
NM_003664.5(AP3B1):c.2354_2355del (p.Glu785fs)
NM_003664.5(AP3B1):c.2398_2401del (p.Glu800fs)
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
NM_003664.5(AP3B1):c.280-2A>G
NM_003664.5(AP3B1):c.2894+1G>T
NM_003664.5(AP3B1):c.2898del (p.Lys967fs)
NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter) rs1746480237
NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)
NM_003664.5(AP3B1):c.395G>C (p.Arg132Pro)
NM_003664.5(AP3B1):c.543_553del (p.Asp181fs)
NM_003664.5(AP3B1):c.724dup (p.Val242fs)
NM_003664.5(AP3B1):c.786+1G>A
NM_003664.5(AP3B1):c.942+1G>T
NM_003665.4(FCN3):c.349del (p.Leu117fs) rs532781899
NM_003665.4(FCN3):c.381_382insA (p.Gly128fs)
NM_003721.4(RFXANK):c.188-2del rs2146483253
NM_003721.4(RFXANK):c.271+1G>C rs759667201
NM_003721.4(RFXANK):c.337+2_337+3del rs1568579235
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003721.4(RFXANK):c.419_438+38del rs1568579997
NM_003721.4(RFXANK):c.460del (p.Ala154fs) rs2060634316
NM_003721.4(RFXANK):c.481del (p.Leu161fs) rs2146492780
NM_003721.4(RFXANK):c.564+2T>C
NM_003721.4(RFXANK):c.713-1G>A rs2060720733
NM_003721.4(RFXANK):c.8_11del (p.Leu3fs)
NM_003745.2(SOCS1):c.24del (p.Ala9fs) rs2069587477
NM_003745.2(SOCS1):c.368C>G (p.Pro123Arg) rs1244284678
NM_003745.2(SOCS1):c.460T>C (p.Tyr154His) rs2069578995
NM_003745.2(SOCS1):c.476_480dup (p.Met161fs) rs1470306246
NM_003745.2(SOCS1):c.64C>T (p.Arg22Trp) rs2069586831
NM_003764.4(STX11):c.157_160del (p.Asp53fs)
NM_003764.4(STX11):c.325G>T (p.Glu109Ter)
NM_003764.4(STX11):c.337_352dup (p.His118delinsArgGlyTer)
NM_003764.4(STX11):c.391C>T (p.Gln131Ter) rs794729649
NM_003764.4(STX11):c.397_398del (p.Asn133fs)
NM_003764.4(STX11):c.484C>T (p.Gln162Ter)
NM_003764.4(STX11):c.551del (p.Gly184fs)
NM_003764.4(STX11):c.568dup (p.Ser190fs)
NM_003764.4(STX11):c.645dup (p.Arg216fs)
NM_003764.4(STX11):c.697del (p.Val233fs)
NM_003764.4(STX11):c.807C>A (p.Tyr269Ter)
NM_003764.4(STX11):c.822del (p.Cys275fs)
NM_003764.4(STX11):c.83C>A (p.Ser28Ter) rs143547259
NM_003824.3(FADD):c.[313T>C];[52_58delAGCGAGC]
NM_003839.4(TNFRSF11A):c.147A>C (p.Lys49Asn) rs2145289462
NM_003839.4(TNFRSF11A):c.328dup (p.Arg110fs)
NM_003839.4(TNFRSF11A):c.380G>A (p.Cys127Tyr) rs2145309285
NM_003839.4(TNFRSF11A):c.443A>T (p.Asp148Val)
NM_003954.5(MAP3K14):c.916del (p.Cys306fs) rs2143820144
NM_003998.4(NFKB1):c.1075G>T (p.Glu359Ter)
NM_003998.4(NFKB1):c.1210+1G>A rs2149203552
NM_003998.4(NFKB1):c.1752+1G>A rs1560711146
NM_003998.4(NFKB1):c.1753-1G>C
NM_003998.4(NFKB1):c.1753-1G>T
NM_003998.4(NFKB1):c.2227+1G>A rs2149222635
NM_003998.4(NFKB1):c.2240del (p.Leu747fs)
NM_003998.4(NFKB1):c.2353-1G>A
NM_003998.4(NFKB1):c.2671del (p.Ala891fs) rs1728635624
NM_003998.4(NFKB1):c.317dup (p.Asn106fs) rs1560679469
NM_003998.4(NFKB1):c.407+1G>A rs1723945421
NM_003998.4(NFKB1):c.730+4A>G rs869320688
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) rs1578793312
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_003998.4(NFKB1):c.927+2T>C
NM_003998.4(NFKB1):c.988G>A (p.Val330Met) rs2149192634
NM_003998.4:c.(927+1_928-1)_(1066+1_1067-1)del
NM_004048.4(B2M):c.1A>G (p.Met1Val) rs1023835002
NM_004048.4(B2M):c.1A>T (p.Met1Leu) rs1023835002
NM_004048.4(B2M):c.2T>C (p.Met1Thr) rs1057519879
NM_004048.4(B2M):c.2T>G (p.Met1Arg) rs1057519879
NM_004048.4(B2M):c.3G>A (p.Met1Ile) rs1057519877
NM_004048.4(B2M):c.67+1G>T rs863225287
NM_004054.4(C3AR1):c.355_356dup (p.Asp119fs) rs869312973
NM_004119.3(FLT3):c.1714T>C (p.Tyr572His) rs1208575764
NM_004119.3(FLT3):c.1736T>C (p.Val579Ala) rs1057520022
NM_004119.3(FLT3):c.1771T>G (p.Tyr591Asp) rs1057520043
NM_004119.3(FLT3):c.1772A>G (p.Tyr591Cys) rs1057520024
NM_004119.3(FLT3):c.1775T>C (p.Val592Ala) rs1057520025
NM_004119.3(FLT3):c.1780T>C (p.Phe594Leu) rs1057520021
NM_004119.3(FLT3):c.1855G>T (p.Gly619Cys) rs1057519769
NM_004119.3(FLT3):c.1952A>G (p.Asp651Gly) rs1057519768
NM_004119.3(FLT3):c.1987A>C (p.Lys663Gln) rs1057520026
NM_004119.3(FLT3):c.2026A>G (p.Asn676Asp) rs1057519767
NM_004119.3(FLT3):c.2028C>A (p.Asn676Lys) rs1057519766
NM_004119.3(FLT3):c.2028C>G (p.Asn676Lys) rs1057519766
NM_004119.3(FLT3):c.2059A>T (p.Ile687Phe) rs1057519765
NM_004119.3(FLT3):c.2073T>A (p.Phe691Leu) rs1057519764
NM_004119.3(FLT3):c.2073T>G (p.Phe691Leu) rs1057519764
NM_004119.3(FLT3):c.2503_2504delinsTT (p.Asp835Phe) rs1057519763
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del) rs121913486
NM_004119.3(FLT3):c.2506A>G (p.Ile836Val) rs1057519726
NM_004119.3(FLT3):c.2506A>T (p.Ile836Phe) rs1057519726
NM_004119.3(FLT3):c.2507T>G (p.Ile836Ser) rs1057520023
NM_004119.3(FLT3):c.2508_2510del (p.Ile836del) rs121913490
NM_004119.3(FLT3):c.2516A>G (p.Asp839Gly) rs991132188
NM_004119.3(FLT3):c.2521A>C (p.Asn841His) rs772061268
NM_004119.3(FLT3):c.2523C>A (p.Asn841Lys) rs749281035
NM_004119.3(FLT3):c.2524T>C (p.Tyr842His) rs1057519762
NM_004119.3(FLT3):c.2533A>G (p.Arg845Gly)
NM_004159.5(PSMB8):c.107_108del (p.Pro36fs)
NM_004187.5(KDM5C):c.67G>T (p.Glu23Ter) rs1602247047
NM_004260.4(RECQL4):c.3136G>A (p.Glu1046Lys) rs771349728
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) rs121913351
NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala) rs121913351
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) rs121913355
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) rs121913355
NM_004333.6(BRAF):c.1409C>G (p.Thr470Arg) rs397516891
NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn) rs727504375
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) rs397507477
NM_004333.6(BRAF):c.1574T>G (p.Leu525Arg) rs869025340
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) rs180177040
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr) rs121913370
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) rs121913370
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1786G>A (p.Gly596Ser) rs121913361
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) rs121913361
NM_004333.6(BRAF):c.1787G>A (p.Gly596Asp) rs397507483
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln) rs121913366
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) rs121913366
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) rs121913365
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser)
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004333.6(BRAF):c.823G>A (p.Glu275Lys) rs2129044284
NM_004364.5(CEBPA):c.1043G>C (p.Ser348Thr) rs2145258173
NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup) rs780345232
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter) rs1555742221
NM_004364.5(CEBPA):c.334_336del (p.Pro112del)
NM_004364.5(CEBPA):c.426del (p.Arg142fs)
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup) rs746430067
NM_004364.5(CEBPA):c.890G>C (p.Arg297Pro) rs1600021258
NM_004364.5(CEBPA):c.918_919insGCGCTGCTTGGCCTTGTCGCAGAC (p.Arg306_Asn307insAlaLeuLeuGlyLeuValAlaAsp)
NM_004364.5(CEBPA):c.926_932delinsT (p.Glu309_Gln311delinsVal)
NM_004364.5(CEBPA):c.928_945dup (p.Leu315_Glu316insThrGlnGlnLysValLeu) rs2145258824
NM_004364.5(CEBPA):c.931CAG[3] (p.Gln312_Lys313insGln)
NM_004364.5(CEBPA):c.936G>A (p.Gln312=) rs1248876880
NM_004364.5(CEBPA):c.943C>A (p.Leu315Met) rs2145258835
NM_004364.5(CEBPA):c.946_947insGGA (p.Glu316delinsGlyLys)
NM_004364.5(CEBPA):c.956G>T (p.Ser319Ile) rs2145258726
NM_004444.5(EPHB4):c.1161_1162dup (p.Glu388fs)
NM_004444.5(EPHB4):c.1423-6G>A rs762817852
NM_004444.5(EPHB4):c.1918_1919insCTT (p.Lys640delinsThrTer)
NM_004444.5(EPHB4):c.2273A>G (p.Asp758Gly)
NM_004444.5(EPHB4):c.2860_2861del (p.Leu954fs) rs1584651110
NM_004444.5(EPHB4):c.839C>G (p.Ser280Ter) rs758961867
NM_004523.4(KIF11):c.1060dup (p.His354fs)
NM_004523.4(KIF11):c.1235T>G (p.Leu412Ter)
NM_004523.4(KIF11):c.1305+1G>A rs1589600695
NM_004523.4(KIF11):c.1345C>T (p.Gln449Ter)
NM_004523.4(KIF11):c.139C>T (p.Arg47Ter)
NM_004523.4(KIF11):c.1513_1516del (p.Glu505fs)
NM_004523.4(KIF11):c.1580A>T (p.Asn527Ile) rs1844750166
NM_004523.4(KIF11):c.1634T>C (p.Met545Thr) rs1564713037
NM_004523.4(KIF11):c.1703-1G>A
NM_004523.4(KIF11):c.1935_1936del (p.Ser646fs)
NM_004523.4(KIF11):c.1A>G (p.Met1Val)
NM_004523.4(KIF11):c.2059del (p.His687fs) rs1554862197
NM_004523.4(KIF11):c.2268-1G>A
NM_004523.4(KIF11):c.2312_2313del (p.Lys771fs) rs1844907904
NM_004523.4(KIF11):c.2458G>T (p.Glu820Ter)
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)
NM_004523.4(KIF11):c.2545G>T (p.Glu849Ter)
NM_004523.4(KIF11):c.2598_2601del (p.Gly868fs)
NM_004523.4(KIF11):c.2921dup (p.Asp975fs)
NM_004523.4(KIF11):c.2972dup (p.Ser992fs) rs1554863246
NM_004523.4(KIF11):c.301_302del (p.Ile101fs)
NM_004523.4(KIF11):c.376dup (p.Thr126fs) rs2135901156
NM_004523.4(KIF11):c.381G>A (p.Trp127Ter) rs1589590737
NM_004523.4(KIF11):c.422A>T (p.His141Leu) rs1844462612
NM_004523.4(KIF11):c.473del (p.Val158fs) rs2135902435
NM_004523.4(KIF11):c.489del (p.Tyr164fs)
NM_004523.4(KIF11):c.529del (p.Asp177fs)
NM_004523.4(KIF11):c.574-2A>G
NM_004523.4(KIF11):c.587_590del (p.Ile196fs)
NM_004523.4(KIF11):c.699-1G>C rs2135904871
NM_004523.4(KIF11):c.789+1G>T rs2135904919
NM_004523.4(KIF11):c.862_871del (p.Ile288fs) rs1057518980
NM_004523.4(KIF11):c.895A>G (p.Ile299Val) rs1844517913
NM_004523.4(KIF11):c.89T>A (p.Leu30Ter)
NM_004523.4(KIF11):c.934C>T (p.Arg312Ter) rs2135905068
NM_004523.4(KIF11):c.961C>T (p.Gln321Ter)
NM_004629.2(FANCG):c.1001_1010del (p.Leu334fs)
NM_004629.2(FANCG):c.1027C>T (p.Gln343Ter) rs1829085768
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter) rs1326382443
NM_004629.2(FANCG):c.1144-1G>A
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)
NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter) rs886063896
NM_004629.2(FANCG):c.125T>A (p.Leu42Ter)
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
NM_004629.2(FANCG):c.1359del (p.Ala454fs) rs1829066243
NM_004629.2(FANCG):c.1366del (p.His456fs) rs587778345
NM_004629.2(FANCG):c.1375C>T (p.Gln459Ter) rs2131053817
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.1465_1467delinsAA (p.Glu489fs)
NM_004629.2(FANCG):c.1480+1G>A
NM_004629.2(FANCG):c.1481-1G>C rs2131053141
NM_004629.2(FANCG):c.1483del rs760738460
NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter) rs1829056657
NM_004629.2(FANCG):c.1542_1545dup (p.Ala516fs)
NM_004629.2(FANCG):c.1573del (p.Trp524_Val525insTer) rs753485145
NM_004629.2(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.2(FANCG):c.1636+1G>C
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.1652_1655del (p.Tyr551fs) rs770263417
NM_004629.2(FANCG):c.1672_1673del (p.Leu558fs)
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter) rs1829041127
NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter) rs786204205
NM_004629.2(FANCG):c.176-1G>A rs2131059176
NM_004629.2(FANCG):c.176-6_190del
NM_004629.2(FANCG):c.1771_1772del (p.Leu591fs)
NM_004629.2(FANCG):c.1771dup (p.Leu591fs) rs746392434
NM_004629.2(FANCG):c.1772del (p.Leu591fs)
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) rs1829130135
NM_004629.2(FANCG):c.256C>T (p.Gln86Ter) rs1829129603
NM_004629.2(FANCG):c.272del (p.Asp91fs)
NM_004629.2(FANCG):c.306_307del (p.Arg102fs)
NM_004629.2(FANCG):c.307+1G>A
NM_004629.2(FANCG):c.308-1G>A
NM_004629.2(FANCG):c.347_348del (p.Gln116fs)
NM_004629.2(FANCG):c.355_356del (p.Arg119fs)
NM_004629.2(FANCG):c.366G>A (p.Trp122Ter)
NM_004629.2(FANCG):c.508C>T (p.Gln170Ter)
NM_004629.2(FANCG):c.510+1G>A
NM_004629.2(FANCG):c.511-1G>T
NM_004629.2(FANCG):c.511-3_511-2del rs1491369358
NM_004629.2(FANCG):c.552_585del (p.Thr183_Trp184insTer)
NM_004629.2(FANCG):c.552dup (p.Ser185fs) rs1412207017
NM_004629.2(FANCG):c.592C>T (p.Gln198Ter)
NM_004629.2(FANCG):c.601_602del (p.Gln201fs)
NM_004629.2(FANCG):c.619del (p.Leu207fs)
NM_004629.2(FANCG):c.646+1G>T rs1028569753
NM_004629.2(FANCG):c.647-2_649del rs2131056701
NM_004629.2(FANCG):c.682del (p.Ala228fs)
NM_004629.2(FANCG):c.692del (p.Ser231fs)
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
NM_004629.2(FANCG):c.713dup (p.Leu239fs) rs2131056549
NM_004629.2(FANCG):c.721_733del (p.Pro241fs)
NM_004629.2(FANCG):c.722_734del (p.Pro241fs)
NM_004629.2(FANCG):c.739C>T (p.Gln247Ter)
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410
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.797dup (p.Leu267fs)
NM_004629.2(FANCG):c.7_10dup (p.Gln4fs)
NM_004629.2(FANCG):c.84+1G>A
NM_004629.2(FANCG):c.842del (p.Pro281fs) rs2131055994
NM_004629.2(FANCG):c.85-1G>A rs1052044702
NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)
NM_004629.2(FANCG):c.907del (p.Leu303fs)
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro) rs1563986439
NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)
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_004629.2(FANCG):c.930dup (p.Asn311fs)
NM_004629.2(FANCG):c.941del (p.Cys314fs)
NM_004629.2(FANCG):c.942C>A (p.Cys314Ter)
NM_004629.2(FANCG):c.981dup (p.Leu328fs) rs2131055463
NM_004629.2(FANCG):c.99_103del (p.Gly34fs)
NM_004656.4(BAP1):c.1787G>C (p.Ser596Thr) rs1478603808
NM_004690.4(LATS1):c.2449G>A (p.Glu817Lys) rs1582867955
NM_004944.4(DNASE1L3):c.537G>A (p.Trp179Ter) rs2107373870
NM_004946.3(DOCK2):c.1055+1G>A
NM_004946.3(DOCK2):c.1055+1G>T
NM_004946.3(DOCK2):c.1057del
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.4729-2A>G rs1757824003
NM_004946.3(DOCK2):c.5288-1G>T
NM_004946.3(DOCK2):c.606+2T>G
NM_004972.4(JAK2):c.1691G>T (p.Arg564Leu) rs368927897
NM_004972.4(JAK2):c.2047A>G (p.Arg683Gly) rs1057519721
NM_004972.4(JAK2):c.2624C>A (p.Thr875Asn) rs1057520016
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) rs727503108
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) rs121913240
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.202A>T (p.Arg68Trp)
NM_004985.5(KRAS):c.202_204del (p.Arg68del) rs1951405809
NM_004985.5(KRAS):c.221C>T (p.Thr74Ile) rs1951405479
NM_004985.5(KRAS):c.229G>T (p.Gly77Cys) rs2141509652
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) rs121913535
NM_004985.5(KRAS):c.440A>T (p.Lys147Met)
NM_004985.5(KRAS):c.451-5642A>T rs1592798693
NM_004985.5(KRAS):c.454G>T (p.Val152Phe) rs397517041
NM_004985.5(KRAS):c.458A>G (p.Asp153Gly) rs104894360
NM_004985.5(KRAS):c.466T>G (p.Phe156Val) rs397517042
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys) rs28730670
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) rs587777389
NM_005026.5(PIK3CD):c.266_273del (p.Leu89fs)
NM_005026.5(PIK3CD):c.317dup (p.Asp107fs)
NM_005026.5(PIK3CD):c.371G>A (p.Gly124Asp)
NM_005027.4(PIK3R2):c.572C>A (p.Ser191Ter) rs1418268495
NM_005045.4(RELN):c.10166_10167del (p.Ser3389fs)
NM_005045.4(RELN):c.10297C>T (p.Gln3433Ter)
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.3136_3140del (p.Gly1046fs)
NM_005045.4(RELN):c.473+1G>A
NM_005045.4(RELN):c.4864C>T (p.Arg1622Ter) rs1451240853
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.7120G>T (p.Glu2374Ter)
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_005045.4(RELN):c.9841del (p.Ala3281fs) rs1586472959
NM_005157.6(ABL1):c.1052T>C (p.Met351Thr) rs121913457
NM_005157.6(ABL1):c.1064A>G (p.Glu355Gly) rs121913450
NM_005157.6(ABL1):c.1075T>A (p.Phe359Ile) rs121913452
NM_005157.6(ABL1):c.1075T>C (p.Phe359Leu) rs121913452
NM_005157.6(ABL1):c.1075T>G (p.Phe359Val) rs121913452
NM_005157.6(ABL1):c.1076T>G (p.Phe359Cys) rs1057519775
NM_005157.6(ABL1):c.1187A>G (p.His396Arg) rs121913454
NM_005157.6(ABL1):c.706G>A (p.Glu236Lys) rs387906517
NM_005157.6(ABL1):c.730A>G (p.Met244Val) rs121913456
NM_005157.6(ABL1):c.742C>G (p.Leu248Val) rs121913455
NM_005157.6(ABL1):c.749G>A (p.Gly250Glu) rs121913453
NM_005157.6(ABL1):c.756G>C (p.Gln252His) rs121913458
NM_005157.6(ABL1):c.756G>T (p.Gln252His) rs121913458
NM_005157.6(ABL1):c.757T>C (p.Tyr253His) rs121913461
NM_005157.6(ABL1):c.758A>T (p.Tyr253Phe) rs121913460
NM_005157.6(ABL1):c.763G>A (p.Glu255Lys) rs121913448
NM_005157.6(ABL1):c.764A>T (p.Glu255Val) rs121913449
NM_005157.6(ABL1):c.847T>G (p.Phe283Val) rs1057519758
NM_005157.6(ABL1):c.895G>C (p.Val299Leu) rs1057519771
NM_005157.6(ABL1):c.943A>G (p.Thr315Ala) rs1057519772
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) rs121913459
NM_005157.6(ABL1):c.949T>A (p.Phe317Ile) rs1057519773
NM_005157.6(ABL1):c.949T>G (p.Phe317Val) rs1057519773
NM_005157.6(ABL1):c.950T>G (p.Phe317Cys) rs1057519774
NM_005157.6(ABL1):c.951C>A (p.Phe317Leu) rs121913451
NM_005157.6(ABL1):c.951C>G (p.Phe317Leu) rs121913451
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005188.4(CBL):c.1096-4_1096-1del rs397517077
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys) rs727504504
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser) rs387906666
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005188.4(CBL):c.1439G>A (p.Arg480Gln) rs1949969239
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.160G>A (p.Ala54Thr) rs1553657387
NM_005214.5(CTLA4):c.173G>A (p.Cys58Tyr)
NM_005214.5(CTLA4):c.231_297delinsA (p.Gln80_Ser101del)
NM_005214.5(CTLA4):c.381C>A (p.Tyr127Ter)
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005214.5(CTLA4):c.416A>C (p.Tyr139Ser) rs1581573923
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys) rs1581573923
NM_005214.5(CTLA4):c.60G>A (p.Trp20Ter) rs886041906
NM_005223.4(DNASE1):c.91C>T (p.Gln31Ter)
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.3(ERCC4):c.580_584+1del rs776329282
NM_005236.3(ERCC4):c.616C>T (p.Gln206Ter) rs2141946068
NM_005245.4(FAT1):c.2668G>A (p.Glu890Lys) rs1579484570
NM_005245.4(FAT1):c.720G>A (p.Met240Ile) rs1579491104
NM_005251.2(FOXC2):c.(?_1)_(1506_?)del
NM_005251.3(FOXC2):c.1105dup (p.Leu369fs)
NM_005251.3(FOXC2):c.1221del (p.Gln407fs) rs2144020781
NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter) rs104894516
NM_005251.3(FOXC2):c.347G>A (p.Trp116Ter) rs1974216738
NM_005251.3(FOXC2):c.374C>T (p.Ser125Leu) rs121909106
NM_005251.3(FOXC2):c.939C>G (p.Tyr313Ter) rs1597402936
NM_005321.3(H1-4):c.133A>C (p.Thr45Pro) rs951047896
NM_005337.5(NCKAP1L):c.1555G>C (p.Val519Leu) rs1956961224
NM_005337.5(NCKAP1L):c.2T>C (p.Met1Thr)
NM_005337.5(NCKAP1L):c.773G>T (p.Arg258Leu) rs1956891911
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu) rs28933406
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro) rs121913233
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.183G>T (p.Gln61His) rs121913496
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala) rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005356.5(LCK):c.1129dup (p.Ser377fs) rs1569967422
NM_005356.5(LCK):c.1515C>A (p.Tyr505Ter)
NM_005356.5(LCK):c.277C>T (p.Gln93Ter)
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.1513A>T (p.Ser505Cys) rs1057519752
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) rs121913614
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.317C>T (p.Pro106Leu) rs750046020
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_005431.2(XRCC2):c.350dup (p.Leu117fs) rs764640893
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs) rs763401560
NM_005475.3(SH2B3):c.1566dup (p.Glu523fs)
NM_005534.4(IFNGR2):c.1A>C (p.Met1Leu) rs1316638883
NM_005534.4(IFNGR2):c.800del (p.Phe267fs) rs2123370265
NM_005546.4(ITK):c.129del (p.Arg44fs)
NM_005546.4(ITK):c.139-2A>G
NM_005633.4(SOS1):c.1009T>C (p.Tyr337His) rs2124562542
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg) rs1572830693
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1310T>A (p.Ile437Asn) rs397517150
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
NM_005633.4(SOS1):c.1430A>G (p.Gln477Arg) rs730881044
NM_005633.4(SOS1):c.1477A>G (p.Lys493Glu)
NM_005633.4(SOS1):c.1653_1655del (p.Arg552del) rs1572830219
NM_005633.4(SOS1):c.1655G>T (p.Arg552Met) rs397517154
NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.4(SOS1):c.3022T>C (p.Tyr1008His) rs397517163
NM_005633.4(SOS1):c.305C>G (p.Pro102Arg) rs1553362937
NM_005633.4(SOS1):c.305C>T (p.Pro102Leu)
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.4(SOS1):c.3248dup (p.Arg1084fs) rs387906518
NM_005633.4(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.4(SOS1):c.445G>A (p.Val149Ile)
NM_005633.4(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr) rs1057519963
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
NM_005633.4(SOS1):c.806T>A (p.Met269Lys)
NM_005633.4(SOS1):c.925G>A (p.Asp309Asn) rs397517180
NM_005739.4(RASGRP1):c.1418_1428+3del
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_005956.4(MTHFD1):c.1006C>T (p.Arg336Ter) rs920392170
NM_005956.4(MTHFD1):c.1807G>T (p.Glu603Ter)
NM_005956.4(MTHFD1):c.2529del (p.Glu844fs) rs2140987866
NM_005956.4(MTHFD1):c.2629C>T (p.Gln877Ter)
NM_006060.6(IKZF1):c.1275dup (p.Leu426fs)
NM_006060.6(IKZF1):c.499C>T (p.His167Tyr)
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) rs2153477847
NM_006060.6(IKZF1):c.548G>A (p.Arg183His) rs1812172495
NM_006118.4(HAX1):c.182T>G (p.Phe61Cys) rs146452018
NM_006118.4(HAX1):c.314del (p.Pro105fs)
NM_006118.4(HAX1):c.463dup (p.Gln155fs) rs1572018886
NM_006118.4(HAX1):c.504+1G>A rs2149140065
NM_006118.4(HAX1):c.53+1G>A
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.601C>T (p.Gln201Ter)
NM_006118.4(HAX1):c.607dup (p.Gln203fs)
NM_006118.4(HAX1):c.664-1G>T rs2149140690
NM_006118.4(HAX1):c.81_83delinsT (p.Met27fs)
NM_006206.6(PDGFRA):c.167G>C (p.Ser56Thr) rs587778601
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu) rs1057519933
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg) rs1057519935
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn) rs1057519934
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_006265.3(RAD21):c.9C>A (p.Tyr3Ter) rs758626942
NM_006282.5(STK4):c.36-1G>A
NM_006282.5(STK4):c.395C>A (p.Ser132Ter)
NM_006282.5(STK4):c.831+2T>C
NM_006282.5(STK4):c.961-2A>G
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006312.6(NCOR2):c.5909C>A (p.Ser1970Tyr) rs1593107841
NM_006397.3(RNASEH2A):c.127+1G>C
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro) rs373301983
NM_006397.3(RNASEH2A):c.199+1G>C
NM_006397.3(RNASEH2A):c.200-1G>T
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.3(RNASEH2A):c.320G>A (p.Gly107Glu) rs2145824951
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006397.3(RNASEH2A):c.323+1G>A rs1388246689
NM_006397.3(RNASEH2A):c.549+1G>A
NM_006397.3(RNASEH2A):c.549+1G>T
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006397.3(RNASEH2A):c.638-2A>G rs2145830162
NM_006397.3(RNASEH2A):c.704G>C (p.Arg235Pro)
NM_006397.3(RNASEH2A):c.717del (p.Thr240fs) rs1403542725
NM_006432.5(NPC2):c.116_117dup (p.Ser40Ter)
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.5(NPC2):c.142C>T (p.Gln48Ter) rs2086712538
NM_006432.5(NPC2):c.148_149del (p.Ser50fs)
NM_006432.5(NPC2):c.154G>T (p.Gly52Ter)
NM_006432.5(NPC2):c.184_185del (p.Thr62fs)
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.1A>G (p.Met1Val) rs1555346369
NM_006432.5(NPC2):c.210_213dup (p.Ala72fs) rs2086689501
NM_006432.5(NPC2):c.218del (p.Val73fs)
NM_006432.5(NPC2):c.249_250insAATTCCA (p.Pro84fs)
NM_006432.5(NPC2):c.279dup (p.Lys94Ter) rs1376058648
NM_006432.5(NPC2):c.297C>A (p.Cys99Ter) rs2086687936
NM_006432.5(NPC2):c.297C>G (p.Cys99Trp) rs2086687936
NM_006432.5(NPC2):c.2T>C (p.Met1Thr) rs1555346368
NM_006432.5(NPC2):c.304C>T (p.Gln102Ter) rs2086687862
NM_006432.5(NPC2):c.334A>T (p.Lys112Ter) rs2086687425
NM_006432.5(NPC2):c.336_339delinsCTT (p.Lys112fs)
NM_006432.5(NPC2):c.357T>A (p.Tyr119Ter) rs2086687086
NM_006432.5(NPC2):c.358C>A (p.Pro120Thr)
NM_006432.5(NPC2):c.363+1G>A
NM_006432.5(NPC2):c.364-2A>G rs777654308
NM_006432.5(NPC2):c.3G>A (p.Met1Ile) rs483352893
NM_006432.5(NPC2):c.3G>C (p.Met1Ile) rs483352893
NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del) rs781255433
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter) rs1555345616
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter) rs104894457
NM_006432.5(NPC2):c.64_65delinsCTCACC (p.Val22fs)
NM_006432.5(NPC2):c.67C>T (p.Gln23Ter)
NM_006432.5(NPC2):c.91del (p.Asp31fs)
NM_006494.4(ERF):c.228G>A (p.Met76Ile) rs1599824091
NM_006506.5(RASA2):c.716C>T (p.Ser239Phe)
NM_006509.4(RELB):c.919C>T (p.Arg307Ter) rs1971589003
NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs) rs2052291685
NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs) rs2052320698
NM_006758.3(U2AF1):c.101C>T (p.Ser34Phe) rs371769427
NM_006758.3(U2AF1):c.470A>C (p.Gln157Pro) rs371246226
NM_006758.3(U2AF1):c.470A>G (p.Gln157Arg) rs371246226
NM_006767.4(LZTR1):c.102_105del (p.Cys34fs)
NM_006767.4(LZTR1):c.1030del (p.Ser344fs) rs1555928249
NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter) rs751308379
NM_006767.4(LZTR1):c.1150-1G>A
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His) rs970027059
NM_006767.4(LZTR1):c.200+1G>C
NM_006767.4(LZTR1):c.200+1G>T
NM_006767.4(LZTR1):c.2076T>A (p.Phe692Leu)
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln) rs370638947
NM_006767.4(LZTR1):c.2238del (p.Tyr747fs)
NM_006767.4(LZTR1):c.273_274delinsAA (p.Met91_Leu92delinsIleIle)
NM_006767.4(LZTR1):c.27dup (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.309C>A (p.Cys103Ter)
NM_006767.4(LZTR1):c.320+1G>C rs943939913
NM_006767.4(LZTR1):c.416A>G (p.Asp139Gly)
NM_006767.4(LZTR1):c.438dup (p.Lys147fs) rs2147961992
NM_006767.4(LZTR1):c.674C>T (p.Pro225Leu)
NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg) rs886041925
NM_006767.4(LZTR1):c.690C>G (p.Asn230Lys)
NM_006767.4(LZTR1):c.722T>C (p.Phe241Ser) rs1423756155
NM_006767.4(LZTR1):c.730T>C (p.Ser244Pro) rs1601718760
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.743G>A (p.Gly248Glu) rs2147964105
NM_006767.4(LZTR1):c.743G>T (p.Gly248Val)
NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter)
NM_006767.4(LZTR1):c.855C>A (p.Tyr285Ter)
NM_006767.4(LZTR1):c.993+2T>C
NM_006785.4(MALT1):c.1475+1G>A rs888212988
NM_006785.4(MALT1):c.1612_1615del (p.Lys538fs) rs2144484602
NM_006785.4(MALT1):c.1911+1G>T
NM_006785.4(MALT1):c.1950del (p.Pro651fs) rs2144491203
NM_006785.4(MALT1):c.926_929delGAAG
NM_006785.4(MALT1):c.986-1G>C rs2144403413
NM_006842.3(SF3B2):c.1997A>C (p.His666Pro) rs1057519959
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) rs1057519960
NM_006846.4(SPINK5):c.1280del (p.Ser427fs) rs1753640069
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006846.4(SPINK5):c.209+1G>A rs1752708600
NM_006846.4(SPINK5):c.2264del (p.Asn755fs)
NM_006846.4(SPINK5):c.238dup (p.Ala80fs) rs752179828
NM_006846.4(SPINK5):c.715dup (p.Cys239fs)
NM_006846.4(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)
NM_006912.6(RIT1):c.113C>G (p.Thr38Ser) rs2102590960
NM_006912.6(RIT1):c.116T>G (p.Met39Arg) rs2102590945
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly) rs1673399238
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.268A>C (p.Met90Leu) rs1557960039
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.269T>C (p.Met90Thr)
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu) rs777520196
NM_006912.6(RIT1):c.91G>C (p.Gly31Arg) rs1571999498
NM_006929.5(SKIC2):c.1065-2A>G
NM_006929.5(SKIC2):c.1207del (p.Leu403fs)
NM_006929.5(SKIC2):c.1404-2A>G rs1772611373
NM_006929.5(SKIC2):c.1637del (p.Gly546fs) rs1772636752
NM_006929.5(SKIC2):c.1647+1G>A rs1772638226
NM_006929.5(SKIC2):c.1808del (p.Phe603fs)
NM_006929.5(SKIC2):c.2203-1G>A
NM_006929.5(SKIC2):c.2977dup (p.Met993fs) rs1582187890
NM_006929.5(SKIC2):c.3134C>A (p.Ser1045Ter) rs200271795
NM_006929.5(SKIC2):c.3160G>T (p.Glu1054Ter)
NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser) rs1594982548
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.1127C>T (p.Thr376Ile)
NM_006939.4(SOS2):c.1141C>G (p.Leu381Val)
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)
NM_006939.4(SOS2):c.798_800delinsCAA (p.Glu266_Met267delinsAspLys) rs1885777585
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_006949.4(STXBP2):c.1026+1G>T
NM_006949.4(STXBP2):c.1026+2T>A
NM_006949.4(STXBP2):c.1044_1051del (p.His348fs)
NM_006949.4(STXBP2):c.1107+1G>C
NM_006949.4(STXBP2):c.1107+2T>G
NM_006949.4(STXBP2):c.1108-1G>A
NM_006949.4(STXBP2):c.1115C>A (p.Ala372Asp) rs1434458616
NM_006949.4(STXBP2):c.1138G>T (p.Glu380Ter)
NM_006949.4(STXBP2):c.1179del (p.Leu394fs)
NM_006949.4(STXBP2):c.1210dup (p.Ile404fs)
NM_006949.4(STXBP2):c.1279C>T (p.Gln427Ter)
NM_006949.4(STXBP2):c.1356+1G>C
NM_006949.4(STXBP2):c.1356+1G>T
NM_006949.4(STXBP2):c.1411C>T (p.Gln471Ter)
NM_006949.4(STXBP2):c.1424G>A (p.Trp475Ter)
NM_006949.4(STXBP2):c.143C>G (p.Ser48Ter)
NM_006949.4(STXBP2):c.1452+1G>A
NM_006949.4(STXBP2):c.1525C>T (p.Gln509Ter) rs760061071
NM_006949.4(STXBP2):c.1538+1G>C
NM_006949.4(STXBP2):c.1538+2T>C
NM_006949.4(STXBP2):c.1539-2A>G
NM_006949.4(STXBP2):c.1610_1611dup (p.Val538fs)
NM_006949.4(STXBP2):c.1611T>G (p.Tyr537Ter)
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_006949.4(STXBP2):c.169+2T>G rs1555768979
NM_006949.4(STXBP2):c.1697G>A (p.Gly566Asp)
NM_006949.4(STXBP2):c.229_239delinsG (p.Leu77fs)
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.253C>T (p.Gln85Ter)
NM_006949.4(STXBP2):c.255_265del (p.Ala86fs)
NM_006949.4(STXBP2):c.290dup (p.Thr98fs)
NM_006949.4(STXBP2):c.326-1G>C rs2031844309
NM_006949.4(STXBP2):c.37+596_82delinsCAGCTCTGAGGCATGCCTAGCTGAGGCTATCCCACTGACCTCCGGTCTCAGTTTCCTCATCTGTAAAATGGAATCACTTTTTTCTAATCTCCCCCAATTAAAGGGGTTTGAGCTACAGACCGCCCTGCCTAGAGGAGAGAGTGGAGAGAAGTAACGGGGTGGCCCCGCCCAGCCACGTCCACTGTGTCATGTCCACTGTTATCAAGACGGCCAG
NM_006949.4(STXBP2):c.37+5G>A
NM_006949.4(STXBP2):c.429+1G>A
NM_006949.4(STXBP2):c.429+1G>C
NM_006949.4(STXBP2):c.578+2T>C
NM_006949.4(STXBP2):c.652dup (p.Ser218fs)
NM_006949.4(STXBP2):c.703C>G (p.Arg235Gly) rs753879238
NM_006949.4(STXBP2):c.80del (p.Glu27fs)
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_006979.3(SLC39A7):c.868C>T (p.Arg290Ter)
NM_007074.4(CORO1A):c.1007+1G>A rs2151063274
NM_007074.4(CORO1A):c.1065+2T>C rs112728974
NM_007074.4(CORO1A):c.1278_1279insCC (p.Ser427fs) rs2151063606
NM_007074.4(CORO1A):c.35G>T (p.Arg12Leu)
NM_007074.4(CORO1A):c.756_756+1del
NM_007194.4(CHEK2):c.1095+2T>G rs1569115687
NM_007248.3(TREX1):c.1033_1050del rs1575295176
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.4987-5T>C rs397509214
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175
NM_007315.4(STAT1):c.1015G>T (p.Val339Phe) rs2125048161
NM_007315.4(STAT1):c.1066T>G (p.Tyr356Asp)
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.1210T>G (p.Phe404Val)
NM_007315.4(STAT1):c.1632+1G>A
NM_007315.4(STAT1):c.1760_1761del (p.Glu587fs) rs587776713
NM_007315.4(STAT1):c.185C>A (p.Ser62Ter)
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.511G>C (p.Asp171His)
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_007373.4(SHOC2):c.520C>T (p.Leu174Phe) rs2134121762
NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg) rs864309599
NM_012092.4(ICOS):c.136_139del (p.Asp46fs)
NM_012092.4(ICOS):c.394+2T>C rs1559035937
NM_012092.4(ICOS):c.58+1G>A rs757598952
NM_012250.6(RRAS2):c.439C>T (p.Arg147Trp)
NM_012250.6(RRAS2):c.67G>A (p.Gly23Ser)
NM_012275.3(IL36RN):c.30-1G>T
NM_012275.3(IL36RN):c.30-2A>G
NM_012275.3(IL36RN):c.338C>A (p.Ser113Ter)
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.312+1G>T
NM_012388.4(BLOC1S6):c.313-1G>A
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288
NM_012388.4(BLOC1S6):c.32_34delinsA (p.Gly11fs)
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_012433.4(SF3B1):c.1873C>T (p.Arg625Cys) rs775623976
NM_012433.4(SF3B1):c.1874G>A (p.Arg625His) rs1057519961
NM_012433.4(SF3B1):c.1996A>G (p.Lys666Glu) rs754688962
NM_012433.4(SF3B1):c.1997A>C (p.Lys666Thr) rs374250186
NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn) rs377023736
NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn) rs377023736
NM_012433.4(SF3B1):c.2098A>C (p.Lys700Gln) rs559063155
NM_012433.4(SF3B1):c.2098A>T (p.Lys700Ter) rs559063155
NM_012433.4(SF3B1):c.2099A>C (p.Lys700Thr) rs1057519756
NM_012433.4(SF3B1):c.2099A>G (p.Lys700Arg) rs1057519756
NM_012433.4(SF3B1):c.2099A>T (p.Lys700Ile) rs1057519756
NM_012433.4(SF3B1):c.2100A>C (p.Lys700Asn) rs1057519755
NM_012433.4(SF3B1):c.2100A>T (p.Lys700Asn) rs1057519755
NM_012448.4(STAT5B):c.1102del (p.Gln368fs) rs761761205
NM_012448.4(STAT5B):c.1681-2A>G
NM_012448.4(STAT5B):c.1906+1G>A rs750399917
NM_012452.3(TNFRSF13B):c.102C>A (p.Cys34Ter) rs756955033
NM_012452.3(TNFRSF13B):c.61+1G>A rs1016142312
NM_013275.6(ANKRD11):c.6349_6362del (p.Pro2117fs) rs2151736830
NM_013314.4(BLNK):c.113+2T>G rs2134092983
NM_013314.4(BLNK):c.145C>T (p.Arg49Ter)
NM_013314.4(BLNK):c.746+1G>A rs2083906060
NM_013314.4(BLNK):c.747-2A>G
NM_013436.5(NCKAP1):c.3280G>T (p.Glu1094Ter)
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.1222G>A (p.Val408Met) rs1557115532
NM_014009.4(FOXP3):c.1270_1272delinsC (p.Cys424fs) rs1569529565
NM_014009.4(FOXP3):c.315+1G>A
NM_014009.4(FOXP3):c.315+2T>A rs2147949090
NM_014009.4(FOXP3):c.434C>T (p.Ala145Val) rs782528935
NM_014009.4(FOXP3):c.454+4A>G rs2147948858
NM_014009.4(FOXP3):c.542+2T>G
NM_014009.4(FOXP3):c.543-2A>G
NM_014009.4(FOXP3):c.736-1G>A rs1602684221
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu) rs122467173
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.1483C>T (p.Gln495Ter) rs1553526228
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.1687C>T (p.Arg563Ter) rs1694125419
NM_014140.4(SMARCAL1):c.1710+2T>C
NM_014140.4(SMARCAL1):c.1711-2A>C
NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu) rs1694331040
NM_014140.4(SMARCAL1):c.1851+1G>A
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp) rs1313658611
NM_014140.4(SMARCAL1):c.2141+1G>A rs1694789584
NM_014140.4(SMARCAL1):c.2193del (p.Phe731fs) rs1694866812
NM_014140.4(SMARCAL1):c.223_239del (p.Gln74_Asn75insTer)
NM_014140.4(SMARCAL1):c.2244+1G>A
NM_014140.4(SMARCAL1):c.2427+1G>A rs1559138455
NM_014140.4(SMARCAL1):c.369_370del (p.Pro124fs) rs1574443257
NM_014140.4(SMARCAL1):c.812-2A>G
NM_014140.4(SMARCAL1):c.886del (p.Thr296fs)
NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter) rs1293916143
NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter) rs2043042281
NM_014339.7(IL17RA):c.112_119del (p.His38fs)
NM_014339.7(IL17RA):c.1173C>G (p.Tyr391Ter) rs761716238
NM_014339.7(IL17RA):c.163+2T>C rs2123797291
NM_014339.7(IL17RA):c.292T>C (p.Trp98Arg)
NM_014339.7(IL17RA):c.598+1G>T rs759315432
NM_014339.7(IL17RA):c.599-1G>A
NM_014339.7(IL17RA):c.721del (p.Glu241fs)
NM_014339.7(IL17RA):c.805_808del (p.Thr269fs)
NM_014639.4(SKIC3):c.1134+1G>T rs2112344385
NM_014639.4(SKIC3):c.1166del (p.Leu389fs)
NM_014639.4(SKIC3):c.1221+1G>C rs200085753
NM_014639.4(SKIC3):c.1757+1G>A rs570910902
NM_014639.4(SKIC3):c.2114+2T>A
NM_014639.4(SKIC3):c.2114+5G>A
NM_014639.4(SKIC3):c.2115-1G>A rs2112320552
NM_014639.4(SKIC3):c.231G>A (p.Trp77Ter) rs755681347
NM_014639.4(SKIC3):c.2387del (p.Thr796fs)
NM_014639.4(SKIC3):c.2578-7_2578-3del rs746874042
NM_014639.4(SKIC3):c.2778+2T>G
NM_014639.4(SKIC3):c.2842G>T (p.Glu948Ter) rs2112308481
NM_014639.4(SKIC3):c.3055_3056dup (p.Asn1020fs)
NM_014639.4(SKIC3):c.3272del (p.Ile1090_Leu1091insTer) rs752052886
NM_014639.4(SKIC3):c.3301C>T (p.Gln1101Ter)
NM_014639.4(SKIC3):c.3635del (p.Lys1212fs)
NM_014639.4(SKIC3):c.3807del (p.Pro1270fs) rs2112260281
NM_014639.4(SKIC3):c.4070del (p.Pro1357fs) rs1582849807
NM_014639.4(SKIC3):c.4108C>T (p.Gln1370Ter) rs2112237964
NM_014639.4(SKIC3):c.4175_4176dup (p.Val1393fs) rs1582849711
NM_014639.4(SKIC3):c.53_54del (p.Arg18fs)
NM_014639.4(SKIC3):c.772C>T (p.Gln258Ter) rs1580193741
NM_014639.4(SKIC3):c.828del (p.Ile276fs) rs766378178
NM_014953.5(DIS3):c.2335A>T (p.Ile779Phe) rs1593835248
NM_015259.6(ICOSLG):c.499C>T (p.Pro167Ser) rs2146342598
NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs) rs1909527513
NM_015474.4(SAMHD1):c.1271-1G>C
NM_015474.4(SAMHD1):c.1271-2A>C
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)
NM_015474.4(SAMHD1):c.1410+1G>A
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs) rs768409471
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.1651C>T (p.Arg551Ter) rs149846637
NM_015474.4(SAMHD1):c.259G>C (p.Glu87Gln) rs1600394490
NM_015474.4(SAMHD1):c.349-1G>A rs1251155562
NM_015474.4(SAMHD1):c.349-2A>T rs2146137671
NM_015474.4(SAMHD1):c.410A>G (p.Asp137Gly)
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.869G>A (p.Arg290His)
NM_015474.4(SAMHD1):c.953+1G>A rs2146117027
NM_015474.4(SAMHD1):c.968T>C (p.Leu323Pro)
NM_015599.3(PGM3):c.-2-171T>A
NM_015599.3(PGM3):c.-2-185C>T rs565900346
NM_015599.3(PGM3):c.1128+1G>A
NM_015599.3(PGM3):c.114_118del (p.Met39fs)
NM_015599.3(PGM3):c.1513C>T (p.Arg505Ter) rs1786845541
NM_015599.3(PGM3):c.1539+2T>C rs1786839596
NM_015599.3(PGM3):c.378dup (p.Arg127Ter) rs2128506370
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_015599.3(PGM3):c.787+3A>G
NM_015599.3(PGM3):c.788-2A>G rs1788056577
NM_015991.4(C1QA):c.210delinsAA (p.Gly71fs) rs1642221044
NM_015991.4(C1QA):c.470G>A (p.Gly157Asp) rs1570073403
NM_015991.4(C1QA):c.79C>T (p.Arg27Ter) rs952339666
NM_016123.4(IRAK4):c.333del (p.Leu112fs)
NM_016123.4(IRAK4):c.717-1G>T rs1555169270
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs) rs866179648
NM_016302.4(CRBN):c.1100A>T (p.Asn367Ile) rs1575079076
NM_017612.5(ZCCHC8):c.551G>A (p.Gly184Glu)
NM_017890.4(VPS13B):c.10018_10021delGTTG rs1554579522
NM_017890.4(VPS13B):c.6733_6748del16
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.4:c.3542_3543ins5
NM_017890.4:c.7128_7129ins5
NM_017890.5(VPS13B):c.4158-2A>G rs2133626470
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_018062.4(FANCL):c.1007del (p.Ile336fs)
NM_018062.4(FANCL):c.1017_1018insA (p.Glu340fs)
NM_018062.4(FANCL):c.1021-2A>G
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
NM_018062.4(FANCL):c.1029dup (p.Gly344fs)
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
NM_018062.4(FANCL):c.1048C>T (p.Gln350Ter)
NM_018062.4(FANCL):c.1048_1051del (p.Gln350fs) rs1553433429
NM_018062.4(FANCL):c.1049dup (p.Ser351fs)
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018062.4(FANCL):c.1064dup (p.Phe356fs)
NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)
NM_018062.4(FANCL):c.1092+1G>C
NM_018062.4(FANCL):c.1092+1G>T
NM_018062.4(FANCL):c.1092+1_1092+5del rs1558727300
NM_018062.4(FANCL):c.13del (p.Glu5fs)
NM_018062.4(FANCL):c.158T>G (p.Leu53Ter)
NM_018062.4(FANCL):c.1A>G (p.Met1Val) rs772037896
NM_018062.4(FANCL):c.1_22dup (p.Leu8fs)
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter) rs1490932431
NM_018062.4(FANCL):c.217-2A>G
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
NM_018062.4(FANCL):c.273+1G>A rs144729980
NM_018062.4(FANCL):c.28del (p.Arg10fs)
NM_018062.4(FANCL):c.328_335dup (p.Leu114fs)
NM_018062.4(FANCL):c.335C>G (p.Ser112Ter)
NM_018062.4(FANCL):c.375-2033C>G rs1690571577
NM_018062.4(FANCL):c.378del (p.Val127fs)
NM_018062.4(FANCL):c.40del (p.Leu14fs) rs761039364
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018062.4(FANCL):c.442del (p.His148fs)
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.590del (p.Leu197fs)
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
NM_018062.4(FANCL):c.64A>T (p.Lys22Ter)
NM_018062.4(FANCL):c.691+2_691+5del
NM_018062.4(FANCL):c.70del (p.Val24fs)
NM_018062.4(FANCL):c.716_728del (p.Glu239fs)
NM_018062.4(FANCL):c.738dup (p.Met247fs)
NM_018062.4(FANCL):c.739dup (p.Met247fs) rs1573518300
NM_018062.4(FANCL):c.759_762del (p.Phe253fs) rs1553435610
NM_018062.4(FANCL):c.775+2T>C
NM_018062.4(FANCL):c.821+1G>A
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
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.932dup (p.Tyr311Ter) rs529201454
NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)
NM_018062.4(FANCL):c.96+2T>A
NM_018062.4(FANCL):c.96+2T>C
NM_018062.4(FANCL):c.964C>T (p.Gln322Ter)
NM_018344.6(SLC29A3):c.1+2T>G
NM_018344.6(SLC29A3):c.1350_1354del (p.Val451fs)
NM_018344.6(SLC29A3):c.2-4A>G
NM_018344.6(SLC29A3):c.2T>A (p.Met1Lys)
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys) rs28939087
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018389.5(SLC35C1):c.887A>G (p.His296Arg) rs2134598287
NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr) rs786205669
NM_020207.7(ERCC6L2):c.1682_1683del (p.Glu561fs) rs2132792543
NM_020207.7(ERCC6L2):c.1948-1G>A
NM_020207.7(ERCC6L2):c.3276dup (p.Cys1093fs)
NM_020207.7(ERCC6L2):c.3492+2T>G rs1588013817
NM_020207.7:c.[2156delG];[3300_3303delTCAA]
NM_020458.4(TTC7A):c.138dup (p.Asn47Ter) rs1670398017
NM_020661.4(AICDA):c.169G>A (p.Val57Met) rs786205474
NM_020661.4(AICDA):c.22del (p.Arg8fs)
NM_020661.4(AICDA):c.274C>T (p.Arg92Ter) rs1227905250
NM_020661.4(AICDA):c.293T>G (p.Leu98Arg)
NM_020661.4(AICDA):c.332C>A (p.Ala111Glu)
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter) rs2136431608
NM_020661.4(AICDA):c.417G>T (p.Met139Ile) rs1591744217
NM_020661.4(AICDA):c.427+1G>A
NM_020661.4(AICDA):c.45C>G (p.Phe15Leu) rs2136433359
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter) rs769399833
NM_020661.4(AICDA):c.8+1G>C
NM_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.4477del (p.Arg1493fs) rs1889219103
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.3477G>A (p.Trp1159Ter) rs2145713137
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.4387_4388del (p.Val1463fs) rs1599536432
NM_020964.3(EPG5):c.4475-1G>A
NM_020964.3(EPG5):c.4475-2A>C
NM_020964.3(EPG5):c.4665del (p.Glu1555fs) rs1057519318
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.4783C>T (p.Gln1595Ter) rs1568133724
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.5304+1G>A
NM_020964.3(EPG5):c.5479C>G (p.Pro1827Ala) rs1568118775
NM_020964.3(EPG5):c.5713C>T (p.Arg1905Trp) rs759013844
NM_020964.3(EPG5):c.5943-2A>G
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter) rs1568112543
NM_020964.3(EPG5):c.5993C>G (p.Ser1998Ter) rs1568112516
NM_020964.3(EPG5):c.6049+2T>C
NM_020964.3(EPG5):c.6049+5G>A rs2048968935
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_020964.3(EPG5):c.6225+2T>C
NM_020964.3(EPG5):c.63+1G>T
NM_020964.3(EPG5):c.6752del (p.Val2251fs) rs1057516194
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter) rs372940918
NM_021870.3(FGG):c.1190C>T (p.Thr397Ile) rs1731071910
NM_021871.4(FGA):c.103C>G (p.Arg35Gly) rs121909606
NM_021871.4(FGA):c.1055del (p.Pro352fs) rs1299596156
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
NM_021922.3(FANCE):c.1096del (p.Ser366fs) rs1272613429
NM_021922.3(FANCE):c.1113+1G>A rs2150895088
NM_021922.3(FANCE):c.1113+2T>A
NM_021922.3(FANCE):c.117_136del (p.Arg41fs)
NM_021922.3(FANCE):c.118del (p.Ala40fs)
NM_021922.3(FANCE):c.1237+1G>A
NM_021922.3(FANCE):c.1238-2A>C
NM_021922.3(FANCE):c.1239dup (p.Pro414fs) rs1561792535
NM_021922.3(FANCE):c.1253_1254del (p.Glu418fs)
NM_021922.3(FANCE):c.125_129dup (p.Leu44fs)
NM_021922.3(FANCE):c.1300C>T (p.Gln434Ter)
NM_021922.3(FANCE):c.1317-1G>A
NM_021922.3(FANCE):c.1363del (p.Gln455fs) rs1767552099
NM_021922.3(FANCE):c.1383+2T>C
NM_021922.3(FANCE):c.1436_1437del (p.Lys479fs)
NM_021922.3(FANCE):c.248+1G>A rs1480350743
NM_021922.3(FANCE):c.248+1G>C
NM_021922.3(FANCE):c.248+1G>T
NM_021922.3(FANCE):c.248+2T>C rs1581696699
NM_021922.3(FANCE):c.24_33del (p.Pro9fs)
NM_021922.3(FANCE):c.2T>C (p.Met1Thr) rs1462766132
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del) rs755938406
NM_021922.3(FANCE):c.304_855+155delinsGGACTCCCAGGGAG rs2150889955
NM_021922.3(FANCE):c.339del (p.Leu114fs)
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.3(FANCE):c.505del (p.Arg169fs)
NM_021922.3(FANCE):c.524del (p.Gly175fs) rs773363446
NM_021922.3(FANCE):c.524dup (p.Arg176fs) rs773363446
NM_021922.3(FANCE):c.538del (p.Ser180fs)
NM_021922.3(FANCE):c.635del (p.Glu212fs)
NM_021922.3(FANCE):c.769_772dup (p.Ala258fs)
NM_021922.3(FANCE):c.836del (p.Glu279fs)
NM_021922.3(FANCE):c.880delinsTT (p.Leu294fs)
NM_021922.3(FANCE):c.929del (p.Pro310fs) rs587778337
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021922.3(FANCE):c.969+1G>A
NM_021922.3(FANCE):c.988C>T (p.Gln330Ter)
NM_022047.4(DEF6):c.476_485del (p.Leu159fs)
NM_022051.3(EGLN1):c.1192C>T (p.Arg398Ter)
NM_022168.4(IFIH1):c.1015G>A (p.Ala339Thr) rs1314541924
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_022168.4(IFIH1):c.1246A>C (p.Ile416Leu)
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn) rs1320095792
NM_022168.4(IFIH1):c.2304+1G>T rs762865950
NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu) rs587777446
NM_022168.4(IFIH1):c.2465G>C (p.Arg822Pro)
NM_022168.4(IFIH1):c.2472A>C (p.Arg824Ser)
NM_022168.4(IFIH1):c.317C>A (p.Ser106Ter) rs764380346
NM_022168.4(IFIH1):c.454-1G>A
NM_022168.4(IFIH1):c.716dup (p.Met240fs) rs1558875029
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro) rs923064561
NM_022455.5(NSD1):c.4378+1G>A rs587784115
NM_022552.5(DNMT3A):c.1035_1045del (p.Met345fs) rs1573338559
NM_022552.5(DNMT3A):c.1676G>A (p.Cys559Tyr) rs1313738991
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) rs147828672
NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln) rs757823678
NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg) rs771174392
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022552.5(DNMT3A):c.7G>T (p.Ala3Ser) rs745380962
NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu) rs759380437
NM_022725.4(FANCF):c.1018G>T (p.Glu340Ter)
NM_022725.4(FANCF):c.133_136del (p.His45fs)
NM_022725.4(FANCF):c.167del (p.Thr56fs)
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter) rs753272712
NM_022725.4(FANCF):c.1A>C (p.Met1Leu) rs1046564488
NM_022725.4(FANCF):c.1A>T (p.Met1Leu) rs1046564488
NM_022725.4(FANCF):c.202C>T (p.Gln68Ter)
NM_022725.4(FANCF):c.235G>T (p.Gly79Ter)
NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)
NM_022725.4(FANCF):c.307dup (p.Leu103fs)
NM_022725.4(FANCF):c.379G>T (p.Glu127Ter)
NM_022725.4(FANCF):c.388dup (p.Gln130fs)
NM_022725.4(FANCF):c.434del (p.Met145fs)
NM_022725.4(FANCF):c.530_537del (p.Val177fs)
NM_022725.4(FANCF):c.641dup (p.Leu214fs)
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
NM_022725.4(FANCF):c.736del (p.Glu246fs)
NM_022725.4(FANCF):c.774_780del (p.Leu259_Leu260insTer)
NM_022725.4(FANCF):c.78G>A (p.Trp26Ter)
NM_022725.4(FANCF):c.792dup (p.Ser265Ter)
NM_022725.4(FANCF):c.817_820del (p.Val273fs) rs1858619779
NM_022725.4(FANCF):c.898C>T (p.Gln300Ter)
NM_022725.4(FANCF):c.943dup (p.Cys315fs) rs1590540654
NM_024426.6(WT1):c.1157_1158insTGTACGGT (p.Ala387fs) rs1057519745
NM_024570.4(RNASEH2B):c.136+1del rs75186889
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.2T>C (p.Met1Thr) rs1457494794
NM_024570.4(RNASEH2B):c.322-2A>T
NM_024570.4(RNASEH2B):c.322-3C>G
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
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.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.617-2A>G
NM_024570.4(RNASEH2B):c.64+2_64+6del
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_024598.4(USB1):c.345del (p.Arg115_Met116insTer) rs1555498120
NM_024598.4(USB1):c.370T>C (p.Ser124Pro) rs1597049287
NM_024598.4(USB1):c.623A>G (p.His208Arg) rs1249059283
NM_024598.4(USB1):c.63del (p.Met22fs) rs747958554
NM_024665.7(TBL1XR1):c.1192A>T (p.Lys398Ter)
NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys) rs878854402
NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter) rs1833331932
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs) rs1555460334
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2800_2801dup (p.Val934_Ala935insTer)
NM_024675.4(PALB2):c.2832del (p.Arg945fs) rs1060499823
NM_024675.4(PALB2):c.2835-2A>G
NM_024675.4(PALB2):c.2878del (p.Leu960fs) rs1064795824
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs) rs786203488
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.732_733dup (p.Ala245fs)
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_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030930.4(UNC93B1):c.1632_1644delinsCAACTCGGAG (p.Glu544_Asp548delinsAspAsnSerGlu)
NM_031157.4(HNRNPA1):c.1006A>G (p.Arg336Gly) rs483353032
NM_031157.4(HNRNPA1):c.1009A>G (p.Ser337Gly) rs483353033
NM_031157.4(HNRNPA1):c.1040A>G (p.Tyr347Cys) rs483353034
NM_031157.4(HNRNPA1):c.1042T>C (p.Phe348Leu) rs483353035
NM_031157.4(HNRNPA1):c.1052C>T (p.Pro351Leu) rs483353036
NM_031157.4(HNRNPA1):c.1054C>T (p.Arg352Ter) rs483353037
NM_031157.4(HNRNPA1):c.1057A>G (p.Asn353Asp) rs483353039
NM_031157.4(HNRNPA1):c.1058A>G (p.Asn353Ser) rs483353038
NM_031157.4(HNRNPA1):c.943T>C (p.Phe315Leu) rs483353022
NM_031157.4(HNRNPA1):c.979C>T (p.Pro327Ser) rs483353029
NM_031157.4(HNRNPA1):c.982A>C (p.Met328Leu) rs483353024
NM_031157.4(HNRNPA1):c.987G>T (p.Lys329Asn) rs483353030
NM_031157.4(HNRNPA1):c.995A>G (p.Asn332Ser) rs3207617
NM_031229.4(RBCK1):c.1108_1109insT (p.His370fs)
NM_031229.4(RBCK1):c.1522_1526del (p.Asn508fs) rs2122349615
NM_031229.4(RBCK1):c.461-2A>G rs2016220601
NM_031229.4(RBCK1):c.582+1G>A rs1017046170
NM_031229.4(RBCK1):c.683_705del (p.Ala228fs)
NM_031229.4(RBCK1):c.799C>T (p.Gln267Ter) rs2122268166
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.1126C>T (p.Gln376Ter) rs1028347439
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs) rs587780224
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.1341-1G>C
NM_032043.3(BRIP1):c.1341-2A>C
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter) rs1555605955
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
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.1474-13_1475del rs1555603635
NM_032043.3(BRIP1):c.1474-1G>A rs1555603638
NM_032043.3(BRIP1):c.1474-2A>G rs1603337052
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
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.1702_1703del (p.Asn568fs) rs1057519365
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.1853_1854insG (p.Pro619fs) rs587781985
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.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.205+1del rs1057517648
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.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
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.2258-2A>G
NM_032043.3(BRIP1):c.2341dup (p.Thr781fs) rs1555590388
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.2429_2432dup (p.Pro812fs)
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.2714del (p.Asn905fs) rs2144114210
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter) rs140233356
NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter) rs761639530
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
NM_032043.3(BRIP1):c.2905+1G>A rs876660203
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs) rs763009188
NM_032043.3(BRIP1):c.2920dup (p.Leu974fs)
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2968_2971del (p.Ser990fs)
NM_032043.3(BRIP1):c.2978dup (p.Asn994fs) rs2144092520
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
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.3223_3226del (p.Ser1075fs)
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.40A>T (p.Lys14Ter) rs1555618727
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs) rs1555616143
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>C rs864622277
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.679C>T (p.Gln227Ter) rs45459799
NM_032043.3(BRIP1):c.73_93+14del rs2145863122
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs) rs2078112057
NM_032043.3(BRIP1):c.78dup (p.Ala27fs) rs1555618709
NM_032043.3(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032043.3(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_032043.3(BRIP1):c.903del (p.Leu301fs) rs876659490
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.932_935del (p.Tyr311fs) rs1555607792
NM_032043.3(BRIP1):c.94-1G>A
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032193.4(RNASEH2C):c.247G>A (p.Val83Met) rs772757667
NM_032193.4(RNASEH2C):c.412C>T (p.Pro138Ser) rs77834781
NM_032193.4(RNASEH2C):c.450G>T (p.Trp150Cys) rs1064793942
NM_032415.7(CARD11):c.128C>G (p.Thr43Arg)
NM_032415.7(CARD11):c.128C>T (p.Thr43Met) rs2115094112
NM_032415.7(CARD11):c.173A>G (p.Asp58Gly) rs1780506565
NM_032415.7(CARD11):c.179T>A (p.Val60Glu) rs1583410780
NM_032415.7(CARD11):c.191C>G (p.Pro64Arg) rs1583410771
NM_032415.7(CARD11):c.1940+1G>T rs2115046344
NM_032415.7(CARD11):c.1941-1G>T
NM_032415.7(CARD11):c.215G>T (p.Arg72Leu) rs2115093887
NM_032415.7(CARD11):c.220+1G>A rs1554276623
NM_032415.7(CARD11):c.223C>T (p.Arg75Trp) rs2115090664
NM_032415.7(CARD11):c.2324C>T (p.Ser775Leu)
NM_032415.7(CARD11):c.2917C>T (p.Arg973Cys) rs754645078
NM_032415.7(CARD11):c.358+1G>A rs2115090359
NM_032415.7(CARD11):c.358+1_358+9delinsAACATC
NM_032415.7(CARD11):c.359-1G>A
NM_032415.7(CARD11):c.377G>A (p.Gly126Asp) rs1423056320
NM_032415.7(CARD11):c.7+1G>C
NM_032415.7(CARD11):c.752T>C (p.Leu251Pro) rs1780193930
NM_032415.7(CARD11):c.864+1G>A rs1780191273
NM_032415.7(CARD11):c.864+1G>C
NM_032415.7(CARD11):c.874C>T (p.Arg292Cys) rs771790639
NM_032415.7(CARD11):c.88C>G (p.Arg30Gly) rs145474800
NM_032444.4(SLX4):c.106G>T (p.Glu36Ter)
NM_032444.4(SLX4):c.1116_1117insT (p.Leu373fs) rs2151133987
NM_032444.4(SLX4):c.1125del (p.Ala376fs) rs2151133964
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.4088C>A (p.Ser1363Ter) rs1596520443
NM_032444.4(SLX4):c.425del (p.Gly142fs) rs757662453
NM_032444.4(SLX4):c.4585C>T (p.Gln1529Ter) rs1237224833
NM_032444.4(SLX4):c.4881del (p.Thr1628fs) rs1596515638
NM_032444.4(SLX4):c.5097_5098del (p.Gln1700fs) rs1022072026
NM_032444.4(SLX4):c.5120_5121del (p.Val1707fs) rs2040460653
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.838G>T (p.Gly280Ter)
NM_032444.4(SLX4):c.951-1G>C
NM_032444.4(SLX4):c.951-1G>T rs750371433
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser) rs786205704
NM_032638.5(GATA2):c.1017+513_1017+540del rs1553770655
NM_032638.5(GATA2):c.1018-1G>A rs869320668
NM_032638.5(GATA2):c.1018-1G>T rs869320668
NM_032638.5(GATA2):c.1018_1036delinsAATTT (p.Ser340fs)
NM_032638.5(GATA2):c.1021_1024dup (p.Ala342fs) rs869320770
NM_032638.5(GATA2):c.1034_1035insTCTTCTTGTGGCGGCTCTTCTGGCGGC (p.Ala345_Gly346insLeuLeuValAlaAlaLeuLeuAlaAla) rs2107668794
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg) rs1576745260
NM_032638.5(GATA2):c.1045T>G (p.Cys349Gly) rs1576745260
NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr) rs1576745256
NM_032638.5(GATA2):c.1046G>T (p.Cys349Phe) rs1576745256
NM_032638.5(GATA2):c.1052A>G (p.Asn351Ser) rs1576745252
NM_032638.5(GATA2):c.1054T>C (p.Cys352Arg) rs797045591
NM_032638.5(GATA2):c.1054T>G (p.Cys352Gly) rs797045591
NM_032638.5(GATA2):c.1055G>T (p.Cys352Phe) rs2107668733
NM_032638.5(GATA2):c.1061C>G (p.Thr354Arg) rs387906631
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_032638.5(GATA2):c.1066_1095del (p.Thr356_Asn365del) rs2107668655
NM_032638.5(GATA2):c.1069A>G (p.Thr357Ala) rs2107668704
NM_032638.5(GATA2):c.1070C>T (p.Thr357Ile) rs2107668699
NM_032638.5(GATA2):c.1076T>C (p.Leu359Ser) rs2107668687
NM_032638.5(GATA2):c.1078T>A (p.Trp360Arg) rs2107668680
NM_032638.5(GATA2):c.1079G>T (p.Trp360Leu) rs2107668679
NM_032638.5(GATA2):c.1081C>G (p.Arg361Gly) rs1426175410
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032638.5(GATA2):c.1084_1095del (p.Arg362_Asn365del) rs869320734
NM_032638.5(GATA2):c.1085G>A (p.Arg362Gln) rs867160952
NM_032638.5(GATA2):c.1085G>C (p.Arg362Pro) rs867160952
NM_032638.5(GATA2):c.1103C>G (p.Pro368Arg)
NM_032638.5(GATA2):c.1110C>G (p.Cys370Trp) rs2107668638
NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys) rs376003468
NM_032638.5(GATA2):c.1113C>G (p.Asn371Lys) rs376003468
NM_032638.5(GATA2):c.1114G>A (p.Ala372Thr) rs936826425
NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_032638.5(GATA2):c.1117_1131del (p.Cys373_Tyr377del) rs2107668588
NM_032638.5(GATA2):c.1118G>A (p.Cys373Tyr) rs2107668617
NM_032638.5(GATA2):c.1123C>G (p.Leu375Val) rs2107668602
NM_032638.5(GATA2):c.1123C>T (p.Leu375Phe) rs2107668602
NM_032638.5(GATA2):c.1129T>G (p.Tyr377Asp) rs2107668593
NM_032638.5(GATA2):c.1143+5G>A rs2107668551
NM_032638.5(GATA2):c.1143+5G>C rs2107668551
NM_032638.5(GATA2):c.1154C>A (p.Pro385Gln) rs2107668121
NM_032638.5(GATA2):c.1162A>G (p.Met388Val) rs2107668104
NM_032638.5(GATA2):c.1163T>C (p.Met388Thr) rs2107668103
NM_032638.5(GATA2):c.1168A>G (p.Lys390Glu) rs2107668094
NM_032638.5(GATA2):c.1187G>T (p.Arg396Leu) rs1553770434
NM_032638.5(GATA2):c.1192C>G (p.Arg398Gly)
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_032638.5(GATA2):c.1193G>A (p.Arg398Gln) rs1420609104
NM_032638.5(GATA2):c.1322_1325dup (p.His442fs) rs2107667819
NM_032638.5(GATA2):c.1341C>A (p.Ser447Arg) rs1338194519
NM_032638.5(GATA2):c.41del (p.Pro14fs)
NM_032638.5(GATA2):c.526A>C (p.Thr176Pro) rs1553770978
NM_032638.5(GATA2):c.750del (p.Ser251fs)
NM_032638.5(GATA2):c.857C>T (p.Ala286Val) rs797045592
NM_032638.5(GATA2):c.871+1G>A
NM_032638.5(GATA2):c.872-1G>C rs2068663163
NM_032638.5(GATA2):c.944T>C (p.Leu315Pro) rs2107670416
NM_032790.4(ORAI1):c.129_133del (p.Pro44fs)
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_033084.6(FANCD2):c.2609_2613del
NM_033084.6(FANCD2):c.3107_3108del rs2125059924
NM_033360.4(KRAS):c.189G>C (p.Glu63Asp) rs1592808357
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro) rs121913527
NM_033360.4(KRAS):c.458A>C (p.Glu153Ala) rs1592798693
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.137dup (p.Ser46fs) rs2107255865
NM_033629.6(TREX1):c.143_144del (p.Pro48fs) rs748914604
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) rs777034646
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683
NM_033629.6(TREX1):c.341G>T (p.Arg114Leu)
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) rs781051771
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_033629.6(TREX1):c.461A>C (p.Asp154Ala)
NM_033629.6(TREX1):c.541_544dup (p.Ile182fs)
NM_033629.6(TREX1):c.558_573dup (p.Pro192fs)
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.79_96del (p.Ser27_Thr32del) rs2107255387
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) rs1553820518
NM_033629.6(TREX1):c.858dup (p.Leu287fs) rs2107265977
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_052905.4(FMNL2):c.407T>C (p.Leu136Pro) rs1695370663
NM_052945.4(TNFRSF13C):c.154G>A (p.Ala52Thr)
NM_058216.3(RAD51C):c.1000G>T (p.Glu334Ter)
NM_058216.3(RAD51C):c.1000del (p.Glu334fs) rs1567817415
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+2T>G rs1057517641
NM_058216.3(RAD51C):c.145+2_145+7delinsCTAAG rs878855177
NM_058216.3(RAD51C):c.146-2A>G rs1555593457
NM_058216.3(RAD51C):c.146-4_146-2del rs1555593450
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.374G>T (p.Gly125Val) rs267606998
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_058216.3(RAD51C):c.404G>T (p.Cys135Phe) rs767796996
NM_058216.3(RAD51C):c.405-1G>A rs587782036
NM_058216.3(RAD51C):c.405-1G>C 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>A rs876658644
NM_058216.3(RAD51C):c.705+1G>T rs876658644
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719
NM_058216.3(RAD51C):c.706-2A>C rs587780259
NM_058216.3(RAD51C):c.837+1G>T rs760235677
NM_058216.3(RAD51C):c.837+1del rs1555599288
NM_058216.3(RAD51C):c.837+2T>C rs1567799943
NM_058216.3(RAD51C):c.838-2A>G rs748589398
NM_058216.3(RAD51C):c.838-2A>T rs748589398
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter) rs1598504016
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_078626.3(CDKN2C):c.230C>A (p.Ala77Glu) rs746646631
NM_080424.4(SP110):c.1116_1119del (p.Arg373fs) rs2148850717
NM_080424.4(SP110):c.1130-1G>C
NM_080424.4(SP110):c.1349-2A>T
NM_080424.4(SP110):c.1766_1767del (p.His589fs)
NM_080424.4(SP110):c.1816-1G>C
NM_080424.4(SP110):c.1816-2A>T
NM_080424.4(SP110):c.1888-2A>G
NM_080424.4(SP110):c.877A>T (p.Lys293Ter) rs199845488
NM_080646.2(TBX1):c.1072_1073del (p.Glu358fs)
NM_080647.1(TBX1):c.34+2T>A
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn) rs2145836461
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
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_133372.3(FNIP1):c.454C>G (p.Arg152Gly)
NM_133459.4(CCBE1):c.293G>A (p.Cys98Tyr)
NM_138348.6(OTULIN):c.443G>A (p.Trp148Ter)
NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter) rs1194477276
NM_138387.4(G6PC3):c.325+2T>G
NM_138387.4(G6PC3):c.325G>A (p.Gly109Ser)
NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg) rs2144147052
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_138387.4(G6PC3):c.678-1G>T
NM_138425.3(C12orf57):c.-279C>G rs180837208
NM_138576.4(BCL11B):c.1707del (p.Gly570fs)
NM_139027.6(ADAMTS13):c.1335_1336del (p.Met446fs) rs2130845614
NM_139027.6(ADAMTS13):c.1585-1G>C rs1554789680
NM_139027.6(ADAMTS13):c.1705+1G>A
NM_139027.6(ADAMTS13):c.1921G>A (p.Glu641Lys)
NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe) rs281875307
NM_139027.6(ADAMTS13):c.2130C>G (p.Cys710Trp) rs1841759683
NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met) rs281875302
NM_139027.6(ADAMTS13):c.3251G>A (p.Cys1084Tyr) rs1554795391
NM_139027.6(ADAMTS13):c.330+1G>A rs375415632
NM_139027.6(ADAMTS13):c.3400+143del rs1060499780
NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe) rs281875291
NM_139027.6(ADAMTS13):c.3657C>A (p.Cys1219Ter)
NM_139027.6(ADAMTS13):c.3724+1G>A rs1554796161
NM_139027.6(ADAMTS13):c.3937_4053del (p.Thr1313_Thr1351del) rs1554797078
NM_139027.6(ADAMTS13):c.415-1G>A rs1554785114
NM_139027.6(ADAMTS13):c.703G>C (p.Asp235His) rs281875337
NM_139027.6(ADAMTS13):c.725G>A (p.Cys242Tyr)
NM_139027.6(ADAMTS13):c.84G>A (p.Trp28Ter) rs2130769073
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp) rs193922716
NM_139276.3(STAT3):c.1182G>A (p.Met394Ile) rs2144773624
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys) rs193922717
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_139276.3(STAT3):c.1262G>A (p.Gly421Glu)
NM_139276.3(STAT3):c.1310A>T (p.His437Leu) rs2081712040
NM_139276.3(STAT3):c.1552C>T (p.Arg518Ter)
NM_139276.3(STAT3):c.1699A>G (p.Asn567Asp) rs2144697778
NM_139276.3(STAT3):c.1772A>T (p.Lys591Met) rs193922719
NM_139276.3(STAT3):c.1780G>A (p.Glu594Lys) rs193922720
NM_139276.3(STAT3):c.1842_1849delinsTGAAA (p.Lys615_Gly617delinsGluArg)
NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile) rs1567708034
NM_139276.3(STAT3):c.1861T>G (p.Phe621Val)
NM_139276.3(STAT3):c.1909G>T (p.Val637Leu)
NM_139276.3(STAT3):c.1924A>G (p.Lys642Glu) rs2144683205
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys) rs193922721
NM_139276.3(STAT3):c.1973A>G (p.Lys658Arg) rs2081520204
NM_139276.3(STAT3):c.1974G>T (p.Lys658Asn) rs587777650
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn) rs1555563717
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr) rs886039434
NM_139276.3(STAT3):c.2114A>G (p.Tyr705Cys)
NM_139276.3(STAT3):c.2123C>G (p.Thr708Ser) rs2144622906
NM_139276.3(STAT3):c.2131A>G (p.Ile711Val) rs1131691937
NM_139276.3(STAT3):c.2132T>G (p.Ile711Ser) rs1598381121
NM_139276.3(STAT3):c.2134T>C (p.Cys712Arg) rs193922722
NM_139276.3(STAT3):c.2141C>A (p.Thr714Lys)
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_139276.3(STAT3):c.832C>T (p.Arg278Cys) rs1555566945
NM_139276.3(STAT3):c.861G>T (p.Leu287Phe) rs2144832509
NM_139276.3(STAT3):c.870A>T (p.Lys290Asn) rs1598415635
NM_139276.3(STAT3):c.986T>G (p.Met329Arg) rs1555566820
NM_139276.3(STAT3):c.994C>T (p.His332Tyr) rs2144827923
NM_144687.4(NLRP12):c.1382dup (p.Leu461fs)
NM_144687.4(NLRP12):c.2056_2057dup (p.Leu687fs)
NM_144687.4(NLRP12):c.2072+1G>C rs766603266
NM_144687.4(NLRP12):c.46dup (p.Tyr16fs) rs1599879570
NM_144687.4(NLRP12):c.770del (p.Gln257fs) rs2122677940
NM_144687.4(NLRP12):c.957del (p.Thr320fs)
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.10001_10002del (p.Thr3334fs) rs386834054
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs) rs1057516324
NM_152564.5(VPS13B):c.10062-2A>G rs1554581156
NM_152564.5(VPS13B):c.1006C>T (p.Gln336Ter) rs1554625617
NM_152564.5(VPS13B):c.10106T>G (p.Leu3369Ter) rs1057516437
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs) rs1554581267
NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter) rs1554625632
NM_152564.5(VPS13B):c.10282C>T (p.Gln3428Ter)
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs) rs1563509743
NM_152564.5(VPS13B):c.10361_10364del (p.Ile3454fs) rs1554581430
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.1040del (p.Ser347fs) rs1057516971
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs) rs1554581504
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter) rs1847921335
NM_152564.5(VPS13B):c.10555_10556del (p.Leu3519fs) rs1554581632
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532
NM_152564.5(VPS13B):c.10604_10605del (p.His3535fs) rs1554581676
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
NM_152564.5(VPS13B):c.10673dup (p.Lys3559fs) rs1057517137
NM_152564.5(VPS13B):c.10675A>T (p.Lys3559Ter)
NM_152564.5(VPS13B):c.1071_1074del (p.Ser358fs) rs1554625693
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter) rs1057520769
NM_152564.5(VPS13B):c.10766_10769del (p.Leu3589fs) rs386834056
NM_152564.5(VPS13B):c.10772_10774del (p.Phe3591del) rs1554581821
NM_152564.5(VPS13B):c.1079_1080delinsG (p.Asp360fs) rs1057516274
NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs) rs1554561356
NM_152564.5(VPS13B):c.10805_10824delinsTT (p.Thr3602_His3608delinsIle)
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) rs120074154
NM_152564.5(VPS13B):c.10867+1G>T rs780902262
NM_152564.5(VPS13B):c.10868-2A>C rs745404712
NM_152564.5(VPS13B):c.10868-2A>G
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
NM_152564.5(VPS13B):c.11044+1G>A
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.11105_11114del (p.Ser3702fs) rs1057517202
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_152564.5(VPS13B):c.11162_11163del (p.Ser3721fs) rs1057517376
NM_152564.5(VPS13B):c.11181_11215+10del
NM_152564.5(VPS13B):c.11216-1G>A rs1057517441
NM_152564.5(VPS13B):c.11216-2A>G rs867112705
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs) rs1347701279
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs) rs1057516245
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11360del (p.Gly3787fs) rs1554586972
NM_152564.5(VPS13B):c.11380_11381del (p.Gln3794fs) rs1554586994
NM_152564.5(VPS13B):c.11392+1G>T rs1554587021
NM_152564.5(VPS13B):c.11393-1G>A rs747363890
NM_152564.5(VPS13B):c.11393-1G>C
NM_152564.5(VPS13B):c.11430del (p.Lys3810fs) rs386834062
NM_152564.5(VPS13B):c.11471_11474delinsTGT (p.Pro3824fs) rs1057516284
NM_152564.5(VPS13B):c.11481dup (p.Val3828fs) rs386834063
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs) rs386834064
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG
NM_152564.5(VPS13B):c.11495+1G>A
NM_152564.5(VPS13B):c.11496-2A>G rs1554588353
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter) rs1554625838
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs) rs1588811810
NM_152564.5(VPS13B):c.11523del (p.Glu3842fs) rs386834065
NM_152564.5(VPS13B):c.11575del (p.His3859fs) rs1057516651
NM_152564.5(VPS13B):c.11583dup (p.Cys3862fs) rs1057517438
NM_152564.5(VPS13B):c.11600C>A (p.Ser3867Ter) rs1057517385
NM_152564.5(VPS13B):c.11620_11621del (p.Ser3874fs) rs1554588477
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11630_11631delinsC (p.Glu3877fs) rs1554588489
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.11705_11709delinsAA (p.Thr3902_Val3903delinsLys) rs386834067
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11748_11751dup (p.Gly3918fs) rs1554590314
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs) rs1371736348
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) rs773094891
NM_152564.5(VPS13B):c.1187del (p.Lys396fs) rs1554625872
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs) rs1057517328
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_152564.5(VPS13B):c.1269_1273del (p.Cys425fs) rs386834072
NM_152564.5(VPS13B):c.1275T>A (p.Cys425Ter)
NM_152564.5(VPS13B):c.1303-1G>C rs1554634091
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer) rs1408744761
NM_152564.5(VPS13B):c.148-2A>G rs768406797
NM_152564.5(VPS13B):c.1482del (p.Thr495fs) rs2132556658
NM_152564.5(VPS13B):c.1495_1498del (p.Phe499fs) rs1057517319
NM_152564.5(VPS13B):c.1563+1G>A rs1057516923
NM_152564.5(VPS13B):c.1563+1G>T rs1057516923
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_152564.5(VPS13B):c.1564G>T (p.Glu522Ter)
NM_152564.5(VPS13B):c.1652-2A>T rs2132580903
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs) rs1057517177
NM_152564.5(VPS13B):c.1669del (p.Asp557fs) rs1057517283
NM_152564.5(VPS13B):c.1843+1G>A
NM_152564.5(VPS13B):c.1844-2A>G rs386834073
NM_152564.5(VPS13B):c.1944T>A (p.Cys648Ter)
NM_152564.5(VPS13B):c.2011_2015del (p.Lys671fs) rs1057517338
NM_152564.5(VPS13B):c.2013+2341_2166del
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter) rs1554645551
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.2178_2200del (p.His727fs) rs2132624625
NM_152564.5(VPS13B):c.219_220delinsT (p.Lys73fs) rs386834075
NM_152564.5(VPS13B):c.2209-2A>G
NM_152564.5(VPS13B):c.2221C>T (p.Gln741Ter)
NM_152564.5(VPS13B):c.2247C>A (p.Cys749Ter)
NM_152564.5(VPS13B):c.2268del (p.Val757fs) rs1057516532
NM_152564.5(VPS13B):c.22_23delinsA (p.Pro8fs) rs386834076
NM_152564.5(VPS13B):c.2333+1G>T rs1812243683
NM_152564.5(VPS13B):c.2333+2T>C rs1554652265
NM_152564.5(VPS13B):c.2334-2A>G rs1554665974
NM_152564.5(VPS13B):c.2341A>T (p.Arg781Ter) rs1057516681
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter) rs1554666009
NM_152564.5(VPS13B):c.2516-2A>G rs1554706114
NM_152564.5(VPS13B):c.2552_2559del (p.Gly851fs) rs1554706149
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_152564.5(VPS13B):c.2650+1G>A rs1554706285
NM_152564.5(VPS13B):c.2651-1G>A rs386834077
NM_152564.5(VPS13B):c.2691_2692delinsAAT (p.Pro898fs) rs1554706662
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_152564.5(VPS13B):c.2816delinsCC (p.His939fs) rs1057517255
NM_152564.5(VPS13B):c.2824+2T>G rs141703746
NM_152564.5(VPS13B):c.2828del (p.Ala943fs) rs1554765140
NM_152564.5(VPS13B):c.2855del (p.Leu952fs) rs1554765173
NM_152564.5(VPS13B):c.2889del (p.Trp963fs) rs1563700124
NM_152564.5(VPS13B):c.2908A>T (p.Lys970Ter)
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.292-7A>G rs1554612610
NM_152564.5(VPS13B):c.2934+1G>T rs775729058
NM_152564.5(VPS13B):c.2934+1_2934+2del rs180177358
NM_152564.5(VPS13B):c.2934+2T>A
NM_152564.5(VPS13B):c.2935-1G>A rs2133312466
NM_152564.5(VPS13B):c.2980A>T (p.Lys994Ter)
NM_152564.5(VPS13B):c.3020del (p.Lys1007fs) rs1554767735
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.5(VPS13B):c.3072_3073delinsT (p.Lys1024fs) rs1057516834
NM_152564.5(VPS13B):c.3082+1G>A
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_152564.5(VPS13B):c.3096del (p.Leu1032fs) rs1554788238
NM_152564.5(VPS13B):c.3104del (p.Pro1035fs) rs1057516926
NM_152564.5(VPS13B):c.3133del (p.Ser1045fs) rs1057517447
NM_152564.5(VPS13B):c.3154A>T (p.Arg1052Ter)
NM_152564.5(VPS13B):c.3160A>T (p.Lys1054Ter)
NM_152564.5(VPS13B):c.3172G>T (p.Gly1058Ter)
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3309G>A (p.Trp1103Ter)
NM_152564.5(VPS13B):c.3349dup (p.Cys1117fs) rs1554793521
NM_152564.5(VPS13B):c.3439G>T (p.Glu1147Ter)
NM_152564.5(VPS13B):c.3445+1G>T rs1034855385
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.3618T>A (p.Cys1206Ter) rs386834081
NM_152564.5(VPS13B):c.3666+1G>T rs1554807146
NM_152564.5(VPS13B):c.3666+2T>A rs386834082
NM_152564.5(VPS13B):c.3666+2T>C rs386834082
NM_152564.5(VPS13B):c.3667-1G>A rs750609612
NM_152564.5(VPS13B):c.3681T>A (p.Tyr1227Ter) rs1554814266
NM_152564.5(VPS13B):c.3686dup (p.Thr1230fs) rs1554814271
NM_152564.5(VPS13B):c.376C>T (p.Gln126Ter) rs1057516422
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs) rs753645306
NM_152564.5(VPS13B):c.3870+1G>A rs764225649
NM_152564.5(VPS13B):c.3870+1G>T rs764225649
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs) rs1057516653
NM_152564.5(VPS13B):c.4042+2T>C rs1554822819
NM_152564.5(VPS13B):c.404dup (p.Leu135fs) rs386834083
NM_152564.5(VPS13B):c.4119T>A (p.Cys1373Ter)
NM_152564.5(VPS13B):c.412+1G>A rs1057517295
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.424_425del (p.Leu143fs) rs1057517076
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs) rs386834084
NM_152564.5(VPS13B):c.4286_4287insT (p.Ala1431fs) rs2133637251
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
NM_152564.5(VPS13B):c.4319T>A (p.Leu1440Ter)
NM_152564.5(VPS13B):c.4321dup (p.Thr1441fs) rs386834085
NM_152564.5(VPS13B):c.4399del (p.Ile1467fs) rs386834087
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del) rs386834088
NM_152564.5(VPS13B):c.4445T>A (p.Leu1482Ter)
NM_152564.5(VPS13B):c.4471C>T (p.Gln1491Ter)
NM_152564.5(VPS13B):c.4497dup (p.Glu1500fs) rs386834089
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs) rs1554826566
NM_152564.5(VPS13B):c.4556T>A (p.Leu1519Ter)
NM_152564.5(VPS13B):c.4633+1G>A
NM_152564.5(VPS13B):c.4634-2A>G rs2133668102
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.4746-1G>T rs768342041
NM_152564.5(VPS13B):c.4746-2A>T rs1554843814
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter) rs180177359
NM_152564.5(VPS13B):c.4819C>T (p.Gln1607Ter) rs1588491546
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) rs180177360
NM_152564.5(VPS13B):c.4867A>T (p.Lys1623Ter)
NM_152564.5(VPS13B):c.4894dup (p.Thr1632fs) rs1554843942
NM_152564.5(VPS13B):c.4950-1G>C rs1554852945
NM_152564.5(VPS13B):c.4950-2A>G
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.5140_5157del (p.Ser1714_Gln1719del) rs180177362
NM_152564.5(VPS13B):c.5148del (p.Gln1717fs) rs2133812056
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.5169del (p.Gln1723fs) rs1554853676
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter) rs1554884575
NM_152564.5(VPS13B):c.5256dup (p.Asp1753Ter) rs386834094
NM_152564.5(VPS13B):c.5350dup (p.Glu1784fs) rs1829386213
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) rs180177363
NM_152564.5(VPS13B):c.5386dup (p.Arg1796fs) rs180177364
NM_152564.5(VPS13B):c.5538_5539insT (p.Lys1847Ter) rs1554884838
NM_152564.5(VPS13B):c.5652del (p.Lys1887_Ile1888insTer) rs1554884932
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs) rs386834096
NM_152564.5(VPS13B):c.5675del (p.Ser1892fs) rs386834097
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.580+1G>A rs1846848656
NM_152564.5(VPS13B):c.580+1G>T rs1846848656
NM_152564.5(VPS13B):c.580+2T>C
NM_152564.5(VPS13B):c.581-1G>A
NM_152564.5(VPS13B):c.5829T>A (p.Cys1943Ter)
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.5909-1G>T rs1057516694
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_152564.5(VPS13B):c.6046+1G>T rs750003804
NM_152564.5(VPS13B):c.6047-1G>A rs750092574
NM_152564.5(VPS13B):c.6047-5_6047del rs1057516841
NM_152564.5(VPS13B):c.6082del (p.Ala2028fs) rs1554911430
NM_152564.5(VPS13B):c.6125dup (p.Leu2042fs) rs1554911481
NM_152564.5(VPS13B):c.626_627del (p.Thr209fs) rs386834100
NM_152564.5(VPS13B):c.6299G>A (p.Trp2100Ter) rs1057516331
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter) rs1057516489
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter) rs1057516287
NM_152564.5(VPS13B):c.6345_6346del (p.Gln2115fs) rs386834101
NM_152564.5(VPS13B):c.6454+1G>C rs1235993153
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter) rs1057516494
NM_152564.5(VPS13B):c.6473C>G (p.Ser2158Ter)
NM_152564.5(VPS13B):c.6505A>T (p.Lys2169Ter)
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs) rs1057517318
NM_152564.5(VPS13B):c.6552T>A (p.Cys2184Ter)
NM_152564.5(VPS13B):c.6612del (p.Gln2204fs) rs386834102
NM_152564.5(VPS13B):c.6655C>T (p.Gln2219Ter) rs1057516663
NM_152564.5(VPS13B):c.6657+1G>T rs180177366
NM_152564.5(VPS13B):c.6658-2A>G rs386834103
NM_152564.5(VPS13B):c.6829del (p.Leu2277fs) rs1057516302
NM_152564.5(VPS13B):c.6982del (p.Thr2328fs) rs1554924412
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter) rs767858119
NM_152564.5(VPS13B):c.7050+1G>T rs1057516840
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) rs1057516559
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs) rs386834105
NM_152564.5(VPS13B):c.7177A>T (p.Lys2393Ter)
NM_152564.5(VPS13B):c.7180A>T (p.Lys2394Ter) rs1057516660
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) rs886041184
NM_152564.5(VPS13B):c.7247+2043_7403del
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152564.5(VPS13B):c.7248-1G>C rs763079458
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs) rs1554952465
NM_152564.5(VPS13B):c.7314dup (p.Cys2439fs) rs1554952467
NM_152564.5(VPS13B):c.7317T>A (p.Cys2439Ter)
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs) rs1811766430
NM_152564.5(VPS13B):c.7396del (p.His2466fs) rs1554952554
NM_152564.5(VPS13B):c.7429+2T>C rs1057517393
NM_152564.5(VPS13B):c.7480G>T (p.Glu2494Ter)
NM_152564.5(VPS13B):c.7525C>G (p.Leu2509Val) rs1811867338
NM_152564.5(VPS13B):c.7535G>A (p.Trp2512Ter) rs386834108
NM_152564.5(VPS13B):c.760A>T (p.Lys254Ter) rs910393433
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.7651C>T (p.Gln2551Ter) rs2130679206
NM_152564.5(VPS13B):c.7779+1G>C
NM_152564.5(VPS13B):c.7779+1G>T
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) rs120074153
NM_152564.5(VPS13B):c.7861del (p.Gln2621fs) rs386834109
NM_152564.5(VPS13B):c.7941+1G>A rs1554955952
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs) rs1554622608
NM_152564.5(VPS13B):c.7964_7989del (p.Gly2655fs) rs1554560668
NM_152564.5(VPS13B):c.79C>T (p.Gln27Ter)
NM_152564.5(VPS13B):c.803del (p.Asp268fs) rs1554622622
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735
NM_152564.5(VPS13B):c.8098-1G>C rs1554565484
NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg) rs1587912461
NM_152564.5(VPS13B):c.8171_8175del (p.Tyr2724fs) rs1554565537
NM_152564.5(VPS13B):c.8182del (p.Asp2728fs) rs1554565558
NM_152564.5(VPS13B):c.8266del (p.Glu2755_Leu2756insTer) rs386834111
NM_152564.5(VPS13B):c.8361+1G>A rs542757501
NM_152564.5(VPS13B):c.8362-1G>C
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter) rs1057516484
NM_152564.5(VPS13B):c.8445+1G>C
NM_152564.5(VPS13B):c.8445+2T>C rs1554566396
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8536del (p.Thr2846fs) rs386834114
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs) rs765302278
NM_152564.5(VPS13B):c.8621+2T>G rs1057517236
NM_152564.5(VPS13B):c.8622-2A>G rs386834115
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter) rs747644844
NM_152564.5(VPS13B):c.8793-2A>G
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) rs727504219
NM_152564.5(VPS13B):c.8883del (p.Trp2963fs) rs1057516845
NM_152564.5(VPS13B):c.889del (p.Glu296_Ile297insTer) rs1554622718
NM_152564.5(VPS13B):c.8953C>T (p.Gln2985Ter) rs1057516558
NM_152564.5(VPS13B):c.8991del (p.Gln2998fs) rs1057516276
NM_152564.5(VPS13B):c.8995-1G>A
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs) rs1057516538
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs) rs1057516789
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.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9261_9267del (p.Asn3088fs)
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs) rs773945333
NM_152564.5(VPS13B):c.9330+1G>A
NM_152564.5(VPS13B):c.9330+1G>C rs756013171
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs) rs754443525
NM_152564.5(VPS13B):c.937+1G>A
NM_152564.5(VPS13B):c.938-1G>C rs2132515671
NM_152564.5(VPS13B):c.9394A>T (p.Lys3132Ter)
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs) rs2130858031
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) rs753770252
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs) rs1554574028
NM_152564.5(VPS13B):c.9614+1G>T rs1057517168
NM_152564.5(VPS13B):c.9615-2A>C rs386834120
NM_152564.5(VPS13B):c.9615-2A>G rs386834120
NM_152564.5(VPS13B):c.9631del (p.Tyr3211fs) rs386834121
NM_152564.5(VPS13B):c.9656del (p.Tyr3219fs) rs386834122
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter) rs941969577
NM_152564.5(VPS13B):c.9701del (p.Asn3234fs) rs2130865566
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152564.5(VPS13B):c.9739A>T (p.Lys3247Ter)
NM_152564.5(VPS13B):c.9742+1G>A
NM_152564.5(VPS13B):c.9742+1G>T rs759374475
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.9756del (p.Phe3252fs) rs768801125
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs) rs774357106
NM_152564.5(VPS13B):c.9830del (p.Pro3277fs) rs1057516568
NM_152564.5(VPS13B):c.9880_9881del (p.Pro3294fs) rs1057516614
NM_152564.5(VPS13B):c.9916del (p.Ile3306fs) rs1554575679
NM_152564.5(VPS13B):c.9934_9942+5del rs1554575693
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer) rs1301330402
NM_152564.5(VPS13B):c.9942+1G>A rs1057517063
NM_152564.5(VPS13B):c.9942+1G>T rs1057517063
NM_153460.4(IL17RC):c.763-2_764del rs755012426
NM_170606.3(KMT2C):c.9137T>C (p.Leu3046Pro) rs1003155450
NM_170606.3(KMT2C):c.9181C>G (p.Gln3061Glu) rs1587941402
NM_172351.3(CD46):c.351C>G (p.Tyr117Ter)
NM_172351.3(CD46):c.559G>C (p.Val187Leu)
NM_172351.3(CD46):c.685C>T (p.Arg229Ter) rs1553251787
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755
NM_172351.3(CD46):c.83del (p.Leu28fs)
NM_172351.3(CD46):c.857-1G>A
NM_172351.3(CD46):c.944-1G>C
NM_173842.3(IL1RN):c.46del (p.Leu16fs)
NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg) rs1603452612
NM_181078.3(IL21R):c.352+1G>C rs2087297703
NM_181078.3(IL21R):c.563del (p.Leu188fs) rs2087444941
NM_181078.3(IL21R):c.637del (p.Thr213fs)
NM_181078.3(IL21R):c.686-2A>G
NM_181078.3(IL21R):c.946del (p.Val316fs) rs2141318549
NM_181523.3(PIK3R1):c.1300-2A>G rs1403833564
NM_181523.3(PIK3R1):c.1300-5_1320del rs2112261986
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs) rs1289537429
NM_181523.3(PIK3R1):c.1568+2T>C rs780724594
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.1946G>A (p.Arg649Gln)
NM_181523.3(PIK3R1):c.916+2T>C
NM_181784.3(SPRED2):c.89G>A (p.Trp30Ter)
NM_182746.3(MCM4):c.220C>T (p.Gln74Ter) rs1235010442
NM_182916.3(TRNT1):c.1057-7C>G rs368078167
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_182916.3(TRNT1):c.498_501del (p.Phe167fs) rs754883449
NM_182916.3(TRNT1):c.608G>A (p.Arg203Lys) rs750995691
NM_182925.5(FLT4):c.2717_2734dup (p.Asn911_Leu912insHisLeuAsnValValAsn)
NM_182925.5(FLT4):c.3121C>T (p.Arg1041Trp) rs1451816005
NM_182925.5(FLT4):c.3122G>A (p.Arg1041Gln)
NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu) rs1762335528
NM_182925.5(FLT4):c.3821A>T (p.Asp1274Val) rs1761973773
NM_182972.3(IRF2BP2):c.1137G>A (p.Trp379Ter)
NM_182972.3(IRF2BP2):c.124_147del (p.Asn42_Val49del)
NM_182972.3(IRF2BP2):c.217_244del (p.Pro73fs)
NM_182972.3(IRF2BP2):c.314_324del (p.Glu105fs)
NM_183235.3(RAB27A):c.121A>C (p.Thr41Pro) rs1896186645
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645
NM_183235.3(RAB27A):c.154del
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>C (p.Ala87Pro) rs104894497
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.475T>C (p.Tyr159His) rs1894614852
NM_183235.3(RAB27A):c.476A>G (p.Tyr159Cys)
NM_183235.3(RAB27A):c.509_510del (p.Ile170fs)
NM_183235.3(RAB27A):c.514C>T (p.Gln172Ter)
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_198253.3(TERT):c.1620C>G (p.Ile540Met) rs797046041
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys) rs879255268
NM_198437.3(AURKA):c.1038C>A (p.Phe346Leu) rs1455074519
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.1299-1G>A rs1555601863
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.1807G>T (p.Glu603Ter) rs755348845
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.2448-13G>A rs753762300
NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter) rs1274685768
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.2709+1G>A rs1555600214
NM_199242.3(UNC13D):c.2710-2A>G rs910650073
NM_199242.3(UNC13D):c.2819del (p.Leu940fs)
NM_199242.3(UNC13D):c.2955-1G>A rs1041960684
NM_199242.3(UNC13D):c.3006del (p.Val1003fs) rs2143861305
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.469C>T (p.Gln157Ter)
NM_199242.3(UNC13D):c.498del (p.Glu167fs) rs1599414759
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.766C>T (p.Arg256Ter) rs121434352
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.2007+2T>G rs2131215770
NM_203447.4(DOCK8):c.2779-2A>C rs776399238
NM_203447.4(DOCK8):c.3530+1G>A rs1564025732
NM_203447.4(DOCK8):c.3670_3671insTCAAATTTTGG (p.Asp1224fs) rs2131602318
NM_203447.4(DOCK8):c.3841-1G>T rs1486452597
NM_203447.4(DOCK8):c.4024-2A>G
NM_203447.4(DOCK8):c.4184dup (p.Asn1395fs)
NM_203447.4(DOCK8):c.4626+1G>A
NM_203447.4(DOCK8):c.4626+76A>G
NM_203447.4(DOCK8):c.5223+1del rs2131795370
NM_203447.4(DOCK8):c.53+1G>A rs2046707580
NM_203447.4(DOCK8):c.5311dup (p.Thr1771fs)
NM_203447.4(DOCK8):c.5455_5458dup (p.Thr1820fs)
NM_203447.4(DOCK8):c.5490+2T>C
NM_203447.4(DOCK8):c.560_561insAGCGA (p.Asp187fs) rs2130697082
NM_203447.4(DOCK8):c.741+2T>C
NM_203447.4(DOCK8):c.882dup (p.Glu295fs) rs1554668061
NM_206937.2(LIG4):c.1103A>T (p.Asp368Val) rs1220876973
NM_206937.2(LIG4):c.1282G>C (p.Gly428Arg) rs2138974645
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter) rs373938258
NM_206937.2(LIG4):c.220C>T (p.Gln74Ter)
NM_206937.2(LIG4):c.2321T>C (p.Leu774Pro) rs1060499662
NM_206937.2(LIG4):c.2401_2410del (p.Tyr801fs) rs2138967445
NM_206937.2(LIG4):c.68T>C (p.Leu23Ser)
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
NM_206937.2(LIG4):c.879_883del (p.Asn294fs) rs751070095
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC rs1554651486
NR_003051.3(RMRP):n.-11_-2dup10 rs1587919129
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA rs1554651425
NR_003051.3(RMRP):n.-13_-2dup rs1554651400
NR_003051.3(RMRP):n.-13_-4dup10 rs1554651424
NR_003051.3(RMRP):n.-15_-6dup rs1554651447
NR_003051.3(RMRP):n.-17_-3dup15 rs1823634410
NR_003051.3(RMRP):n.-17_-5dup13 rs1823637491
NR_003051.3(RMRP):n.-18_-17ins14 rs1554651544
NR_003051.3(RMRP):n.-18_-2dup17 rs1587919165
NR_003051.3(RMRP):n.-18_-7dup12 rs1554651466
NR_003051.3(RMRP):n.-18_-8dup11 rs1230629953
NR_003051.3(RMRP):n.-18_-9dup10 rs1554651481
NR_003051.3(RMRP):n.-19_1dup20 rs1554651382
NR_003051.3(RMRP):n.-1_1ins16 rs1554651395
NR_003051.3(RMRP):n.-1_1ins21 rs1218494857
NR_003051.3(RMRP):n.-1_1ins22 rs1554651397
NR_003051.3(RMRP):n.-20_-10dup rs1554651486
NR_003051.3(RMRP):n.-20_-12dup rs1554651503
NR_003051.3(RMRP):n.-20_-13dup rs1554651512
NR_003051.3(RMRP):n.-20_-3dup rs1554651418
NR_003051.3(RMRP):n.-20_-7dup14 rs1823639713
NR_003051.3(RMRP):n.-21_-12dup10 rs1554651503
NR_003051.3(RMRP):n.-21_-4dup rs1563907881
NR_003051.3(RMRP):n.-21_-6dup16 rs1554651451
NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT rs751921616
NR_003051.3(RMRP):n.-22_-11dup rs1179735603
NR_003051.3(RMRP):n.-23_-13dup rs1554651513
NR_003051.3(RMRP):n.-23_-7dup17 rs920074067
NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-24_-3dup22 rs1554651411
NR_003051.3(RMRP):n.-24_-4dup rs1563907883
NR_003051.3(RMRP):n.-25_-14dup12 rs1554651526
NR_003051.3(RMRP):n.-25_-6dup rs1554651445
NR_003051.3(RMRP):n.-26_-10dup rs1554651491
NR_003051.3(RMRP):n.-27_-6dup22 rs1823638952
NR_003051.3(RMRP):n.-3_-2ins20 rs1554651405
NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG rs1554651451
NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA rs1554651439
NR_003051.3(RMRP):n.-7_-6ins16 rs1554651461
NR_003051.3(RMRP):n.-7_-6insATCTGTGAAGCTGA rs1823639598
NR_003051.3(RMRP):n.-7_1dup8 rs752934195
NR_003051.3(RMRP):n.-7_2dup9 rs1554651365
NR_003051.3(RMRP):n.-8_-7ins15 rs1230629953
NR_003051.3(RMRP):n.-8_-7ins17 rs1554651469
NR_003051.3(RMRP):n.-9_1dup rs752934195
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.3(RMRP):n.1_2ins13 rs1554651368
NR_003051.3(RMRP):n.2_3ins15 rs1554651364
NR_003051.3(RMRP):n.3_4ins10 rs759665242
NR_003051.3(RMRP):r.-25_-7dupTACTACTCTGTGAAGCTGA rs1554651455
NR_003051.4(RMRP):n.-21_-2dup rs1554651411
NR_003051.4(RMRP):n.-23_-14dup rs1554651532
NR_003051.4(RMRP):n.-7_-6insGGGACTACTCTGTGAAGCTG rs1554651471
NR_003051.4(RMRP):n.129G>A rs74810894
NR_003051.4(RMRP):n.184G>T rs1554651153
NR_003051.4(RMRP):n.213C>G rs192060920
NR_003051.4(RMRP):n.220A>G rs936059863
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106
NR_003051.4(RMRP):n.97_98dup rs1340624774
NR_023317.1(RNU7-1):n.30A>G rs781842057
NR_023343.3(RNU4ATAC):n.116A>G rs982261295
NR_023343.3(RNU4ATAC):n.46G>A rs1032667950
NR_023343.3(RNU4ATAC):n.50G>A rs181195449
Single allele
t(12;13)(p13.2;q12.2)
t(13;17)(q12.2;q11.2)
t(3;9)(q13.31;p24.1)

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