ClinVar Miner

List of variants reported as pathogenic for immune system disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 592
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000065.5(C6):c.1879del (p.Asp627fs) rs61469168 0.00328
NM_000065.5(C6):c.1138del (p.Gln380fs) rs375762365 0.00206
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
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_000066.4(C8B):c.1282C>T (p.Arg428Ter) rs41286844 0.00118
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NC_000011.10:g.5227100T>C rs34598529 0.00091
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_001735.3(C5):c.55C>T (p.Gln19Ter) rs121909587 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_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter) rs147948835 0.00022
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) rs587781722 0.00021
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_001735.3(C5):c.4426C>T (p.Arg1476Ter) rs121909588 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_000558.5(HBA1):c.96-1G>A rs34883113 0.00017
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924 0.00014
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_006929.5(SKIC2):c.3187C>T (p.Arg1063Ter) rs138923214 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 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_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 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_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
NM_014140.4(SMARCAL1):c.2070+2dup rs762716070 0.00009
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317 0.00006
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_014140.4(SMARCAL1):c.1190del (p.Leu397fs) rs766291662 0.00006
NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter) rs140800288 0.00006
NM_139027.6(ADAMTS13):c.3975dup (p.Glu1326fs) rs387906343 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_199242.3(UNC13D):c.1389+1G>A rs777759523 0.00006
NR_003051.4(RMRP):n.264G>T rs727502774 0.00006
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164 0.00004
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 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_000243.3(MEFV):c.1510C>T (p.Gln504Ter) rs886082025 0.00004
NM_000517.6(HBA2):c.96-2A>G rs41457746 0.00004
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_014140.4(SMARCAL1):c.863-2A>G rs761546902 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 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
NC_000011.10:g.5227172G>A rs63751208 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter) rs758081262 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000204.5(CFI):c.80_81del (p.Asp27fs) rs886043418 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 0.00003
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs) rs80357914 0.00003
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228 0.00003
NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile) rs121908470 0.00003
NM_199242.3(UNC13D):c.753+1G>T rs201908137 0.00003
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200 0.00002
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter) rs150694809 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_000517.6(HBA2):c.*92A>G rs63750067 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) rs201550531 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_002185.5(IL7R):c.221+2T>G rs200044623 0.00002
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725 0.00001
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.8988-1G>C rs730881386 0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) rs80359541 0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000101.4(CYBA):c.287+2T>C rs747774702 0.00001
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821 0.00001
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter) rs1011307501 0.00001
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448 0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360 0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366 0.00001
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln) rs750055861 0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) rs199474686 0.00001
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) rs757797994 0.00001
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959 0.00001
NM_000518.5(HBB):c.92+2T>C rs33956879 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804 0.00001
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_002435.3(MPI):c.488-1G>C rs759579169 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189 0.00001
NM_007294.4(BRCA1):c.135-1G>T rs80358158 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter) rs80357233 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.4485-1G>A rs80358189 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_014140.4(SMARCAL1):c.49C>T (p.Arg17Ter) rs119473034 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter) rs761554022 0.00001
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter) rs752690798 0.00001
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter) rs121434505 0.00001
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs) rs1257545151 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673 0.00001
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs) rs755338751 0.00001
NM_199242.3(UNC13D):c.817C>T (p.Arg273Ter) rs201589664 0.00001
GRCh37/hg19 16q24.3(chr16:89620873-89881041)
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.975+1G>A rs2065325898
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter) rs587782114
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter) rs1555119041
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.4(ATM):c.8851-1G>T rs1057516537
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.2150del (p.Cys717fs) rs397507618
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter) rs80358494
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs) rs2137510225
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs) rs786203494
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs) rs80359503
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter) rs80358807
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.610dup (p.Leu204fs) rs80359560
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) rs80359593
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs) rs397507373
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer) rs80359607
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7617+2T>G rs81002843
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8332-1G>A rs397507979
NM_000059.4(BRCA2):c.8332-1G>C rs397507979
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs) rs276174918
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter) rs397508045
NM_000059.4(BRCA2):c.9403del rs80359760
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs) rs80359763
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) rs121907948
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) rs104894511
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs) rs1281446470
NM_000135.4(FANCA):c.3920del (p.Gln1307fs) rs1228394297
NM_000135.4(FANCA):c.4168-2A>G rs1220672299
NM_000135.4(FANCA):c.560_561insGAGT (p.Gln188fs) rs2143657184
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr) rs2141279835
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs) rs758049059
NM_000204.5(CFI):c.763_772+9delinsGTATCCAC rs2126214430
NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys) rs869320659
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter) rs777286835
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000397.4(CYBB):c.252G>A (p.Ala84=) rs387906485
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) rs33995148
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000536.4(RAG2):c.829dup (p.Tyr277fs) rs1851074524
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) rs120074127
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_000558.5(HBA1):c.328del (p.Leu110fs) rs281864535
NM_000558.5(HBA1):c.94_95del (p.Arg32fs) rs1596573477
NM_000587.4(C7):c.1924_1925del (p.His643fs) rs764871530
NM_000587.4(C7):c.633_643del (p.Ser212fs) rs770367814
NM_000732.6(CD3D):c.202C>T (p.Arg68Ter) rs111033580
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs) rs1283566463
NM_001042492.3(NF1):c.1020dup (p.Val341fs) rs1555610905
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter) rs1567847905
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_001042492.3(NF1):c.2851-6_2851-3del rs1597716256
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2991-1G>C rs1060500273
NM_001042492.3(NF1):c.3628G>T (p.Glu1210Ter) rs2151435633
NM_001042492.3(NF1):c.3870+1G>T rs1131691075
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter) rs1567862991
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) rs786203896
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.3(NF1):c.6006+1G>A rs1555534433
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6897del (p.Lys2300fs)
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter) rs1131691073
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) rs782178147
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) rs758062617
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) rs28937896
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001814.6(CTSC):c.1141del (p.Leu381fs) rs772132996
NM_002185.5(IL7R):c.361dup (p.Ile121fs) rs869312857
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.4(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter) rs104893624
NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter) rs104893626
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004523.4(KIF11):c.247C>T (p.Arg83Ter) rs1064796738
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.2(FANCG):c.1008dup (p.Pro337fs) rs1829086026
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1182_1192delinsC (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.620del (p.Leu207fs) rs753727461
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) rs1443655691
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) rs1599397070
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter) rs886040898
NM_007294.4(BRCA1):c.1204del (p.Glu402fs) rs80357859
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs) rs879255476
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) rs80357063
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.4(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter) rs273899698
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs) rs80357902
NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs) rs80357520
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter) rs80357440
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs) rs80357727
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter) rs80357202
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs) rs80357542
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs) rs879255295
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5153-2del rs273901746
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs) rs879254116
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.744del (p.Thr249fs) rs1060502360
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter) rs879255498
NM_014140.4(SMARCAL1):c.1146_1147+2del rs1574450161
NM_014140.4(SMARCAL1):c.1921dup (p.Val641fs) rs1694436267
NM_021922.3(FANCE):c.524dup (p.Arg176fs) rs773363446
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter) rs587784170
NM_022725.4(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.4(FANCF):c.84del (p.Ala29fs) rs1275961745
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs) rs515726060
NM_024675.4(PALB2):c.1059del (p.Lys353fs) rs730881872
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter) rs757369748
NM_024675.4(PALB2):c.1675_1676delinsTG
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.2052del (p.Arg686fs) rs587782680
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) rs180177122
NM_024675.4(PALB2):c.2834+1G>A rs587776419
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) rs180177126
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) rs587781840
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer) rs587782081
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs) rs730880329
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.3(BRIP1):c.2576-1G>A rs587782539
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter) rs1060501740
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032444.4(SLX4):c.1163+2dup rs2040719850
NM_032444.4(SLX4):c.514del (p.Leu172fs) rs1567178071
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs) rs587782170
NM_058216.3(RAD51C):c.394dup (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.525dup (p.Cys176fs) rs768793789
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs) rs587782286
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter) rs587782818
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter) rs1563700205
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) rs752399634
NM_152564.5(VPS13B):c.6865+1G>T rs202046738
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs) rs764196809
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399
NR_003051.3(RMRP):n.-7_1dup8 rs752934195
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.4(RMRP):n.-18_-2dup rs727502778
NR_003051.4(RMRP):n.-21_-2dup rs1554651411
NR_023343.3(RNU4ATAC):n.55G>A rs575472572

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