ClinVar Miner

List of variants reported as likely pathogenic by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 674
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) rs149484917 0.00246
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866 0.00067
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) rs138613460 0.00057
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_001042697.2(ZSWIM7):c.231_232del (p.Cys78fs) rs368517882 0.00040
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_001609.4(ACADSB):c.375dup (p.Glu126fs) rs756587384 0.00037
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp) rs369359789 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432 0.00018
NM_025137.4(SPG11):c.667+5C>T rs375485062 0.00017
NM_001385.3(DPYS):c.1137C>A (p.Ser379Arg) rs201258823 0.00016
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu) rs199730889 0.00013
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) rs116040763 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_001171.6(ABCC6):c.1058C>T (p.Ala353Val) rs369074083 0.00010
NM_013328.4(PYCR2):c.676C>T (p.Gln226Ter) rs201784173 0.00010
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter) rs377708973 0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_021957.4(GYS2):c.495+1G>T rs372079212 0.00009
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382 0.00007
NM_005006.7(NDUFS1):c.1393-2A>C rs370009373 0.00007
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys) rs781474200 0.00006
NM_001002294.3(FMO3):c.929C>T (p.Ser310Leu) rs572292275 0.00006
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser) rs761989177 0.00006
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln) rs769369302 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_018122.5(DARS2):c.396+2T>G rs759123043 0.00006
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721 0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132 0.00005
NM_000233.4(LHCGR):c.1847C>A (p.Ser616Tyr) rs121912525 0.00005
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795 0.00004
NM_000400.4(ERCC2):c.183+2T>A rs201127596 0.00004
NM_001134665.3(TRMT10A):c.226C>T (p.Arg76Ter) rs748994888 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_153682.3(PIGP):c.2T>C (p.Met1Thr) rs768633670 0.00004
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958 0.00003
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) rs201951824 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter) rs377600857 0.00003
NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp) rs201173498 0.00003
NM_000163.5(GHR):c.1802_1803del (p.Val601fs) rs777688795 0.00002
NM_000380.4(XPA):c.646C>T (p.Gln216Ter) rs761978351 0.00002
NM_002528.7(NTHL1):c.115+1G>A rs749908882 0.00002
NM_003119.4(SPG7):c.201del (p.Leu67_Leu68insTer) rs763413730 0.00002
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr) rs770931871 0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) rs1443751733 0.00002
NM_012205.3(HAAO):c.21del (p.Arg8fs) rs1227604776 0.00002
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter) rs553697188 0.00002
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser) rs1260264247 0.00002
NM_022552.5(DNMT3A):c.1792C>T (p.Arg598Ter) rs568207978 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln) rs80051519 0.00001
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer) rs1207177925 0.00001
NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter) rs763315862 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000153.4(GALC):c.869G>A (p.Arg290His) rs746806459 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) rs121912524 0.00001
NM_000234.3(LIG1):c.2311C>T (p.Arg771Trp) rs121434561 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208 0.00001
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647 0.00001
NM_000294.3(PHKG2):c.835C>T (p.Arg279Cys) rs994896967 0.00001
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His) rs774651252 0.00001
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366 0.00001
NM_000454.5(SOD1):c.358G>C (p.Val120Leu) rs1457889952 0.00001
NM_000478.6(ALPL):c.931G>A (p.Glu311Lys) rs763457259 0.00001
NM_000521.4(HEXB):c.1614-16_1622dup rs756912360 0.00001
NM_000540.3(RYR1):c.46-1G>A rs1238479593 0.00001
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) rs193922608 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp) rs267607046 0.00001
NM_001080483.3(MYMK):c.298G>A (p.Gly100Ser) rs964335184 0.00001
NM_001101.5(ACTB):c.478A>G (p.Thr160Ala) rs1784814961 0.00001
NM_001127178.3(PIGG):c.498G>A (p.Trp166Ter) rs1418085145 0.00001
NM_001136193.2(FASTKD2):c.1072C>T (p.Arg358Ter) rs994917847 0.00001
NM_001171613.2(PREPL):c.-42del rs749853265 0.00001
NM_001242957.3(MAK):c.832-1G>C rs780978066 0.00001
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter) rs1441434215 0.00001
NM_001286577.2(C2CD3):c.4486C>T (p.Arg1496Ter) rs1189478751 0.00001
NM_001379210.1(SLC25A26):c.33+1G>A rs781798317 0.00001
NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs) rs1398880084 0.00001
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln) rs368682034 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 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_002470.4(MYH3):c.736-2A>G rs990374215 0.00001
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln) rs796052888 0.00001
NM_004211.5(SLC6A5):c.2070+1G>A rs770660705 0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920 0.00001
NM_004667.6(HERC2):c.4352-1G>A rs1279608901 0.00001
NM_005033.3(EXOSC9):c.329dup (p.Arg111fs) rs754121759 0.00001
NM_005101.4(ISG15):c.83T>A (p.Leu28Gln) rs1245686232 0.00001
NM_005732.4(RAD50):c.193dup (p.Thr65fs) rs1750079483 0.00001
NM_006005.3(WFS1):c.1145T>C (p.Leu382Pro) rs942793250 0.00001
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met) rs1201878175 0.00001
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter) rs753295968 0.00001
NM_007055.4(POLR3A):c.1393C>T (p.Gln465Ter) rs745418947 0.00001
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter) rs756949505 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_015166.4(MLC1):c.240G>A (p.Met80Ile) rs281875310 0.00001
NM_015386.3(COG4):c.2197C>T (p.Arg733Trp) rs267606740 0.00001
NM_017755.6(NSUN2):c.1222C>T (p.Arg408Ter) rs1221890051 0.00001
NM_018122.5(DARS2):c.493-1G>C rs771905691 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys) rs397514674 0.00001
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys) rs119485088 0.00001
NM_024989.4(PGAP1):c.691C>T (p.Arg231Ter) rs1364192556 0.00001
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg) rs515726205 0.00001
NM_080680.3(COL11A2):c.1119+1G>A rs367706373 0.00001
NM_133171.5(ELMO2):c.1447C>T (p.Arg483Ter) rs1372506599 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_199242.3(UNC13D):c.2212C>T (p.Gln738Ter) rs764507196 0.00001
NC_0000016.10:g.(77282583_77329496)del
NC_000009.12:g.(333421_334903)del
NC_000010.11:g.(45723954_50064424)dup rs2133928325
NC_000010.11:g.(45796863_50064424)dup rs2135895684
NC_000011.10:g.(108286180_108289631)del
NC_000012.12:g.(4070169_7000753)dup rs1344356908
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000023.11:g.(18581559_18597843)dup
NC_000023.11:g.72456277_72483823del
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NM_000021.4(PSEN1):c.709T>C (p.Phe237Leu) rs63750858
NM_000030.3(AGXT):c.416_418del (p.Val139del) rs180177215
NM_000038.6(APC):c.3885del (p.Ala1296fs) rs2149901242
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000044.6(AR):c.1715A>G (p.Tyr572Cys) rs1925886715
NM_000044.6(AR):c.2221T>C (p.Ser741Pro)
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile) rs1451472748
NM_000051.4(ATM):c.4695del (p.Pro1566fs) rs1057517452
NM_000051.4(ATM):c.4801dup (p.Ser1601fs)
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs) rs587782847
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000053.4(ATP7B):c.2987del (p.Met996fs) rs2139054241
NM_000059.4(BRCA2):c.5890A>T (p.Lys1964Ter) rs1555284445
NM_000059.4(BRCA2):c.5908_5909del (p.Ser1970fs)
NM_000059.4(BRCA2):c.738del (p.Phe246fs) rs1566221413
NM_000059.4(BRCA2):c.8715T>A (p.Tyr2905Ter) rs45555831
NM_000061.3(BTK):c.1685G>A (p.Arg562Gln)
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp) rs128621209
NM_000064.4(C3):c.3489+2T>C
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000073.3:c.70_80del
NM_000074.3(CD40LG):c.687T>A (p.Phe229Leu)
NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp)
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
NM_000088.4(COL1A1):c.2990dup (p.Gly998fs) rs1598288648
NM_000088.4(COL1A1):c.3721del (p.Gln1241fs)
NM_000088.4(COL1A1):c.409C>T (p.Gln137Ter)
NM_000089.4(COL1A2):c.1018G>A (p.Gly340Ser) rs67180473
NM_000089.4(COL1A2):c.1343G>A (p.Gly448Glu) rs72658116
NM_000089.4(COL1A2):c.1531G>T (p.Gly511Cys)
NM_000089.4(COL1A2):c.2011del (p.Arg671fs) rs2115924490
NM_000089.4(COL1A2):c.2288G>A (p.Gly763Asp) rs72658179
NM_000089.4(COL1A2):c.2701G>T (p.Gly901Cys) rs72659306
NM_000089.4(COL1A2):c.2710G>C (p.Gly904Arg)
NM_000089.4(COL1A2):c.784G>C (p.Gly262Arg) rs1554395970
NM_000089.4(COL1A2):c.874G>T (p.Gly292Cys) rs906553840
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000094.4(COL7A1):c.5018G>A (p.Gly1673Glu) rs2107706848
NM_000094.4(COL7A1):c.5053-2A>G rs765480571
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys) rs1055680335
NM_000094.4(COL7A1):c.6760G>A (p.Gly2254Arg) rs2107659888
NM_000094.4(COL7A1):c.8304+1G>A rs759579761
NM_000107.3(DDB2):c.85dup (p.Glu29fs)
NM_000123.4(ERCC5):c.2705dup (p.Asn902fs) rs759551120
NM_000127.3(EXT1):c.1836del (p.Lys611_Trp612insTer)
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000135.4(FANCA):c.2853_2856del rs2143225807
NM_000138.5(FBN1):c.1714+1G>T rs2043745437
NM_000138.5(FBN1):c.2631del (p.Ser878fs) rs2141303607
NM_000138.5(FBN1):c.6497-1G>A
NM_000138.5(FBN1):c.6883T>A (p.Cys2295Ser) rs1555394644
NM_000138.5(FBN1):c.8090_8099del (p.Pro2697fs)
NM_000153.4(GALC):c.884A>T (p.Asn295Ile) rs746922378
NM_000154.2(GALK1):c.166-5_227dup rs2143605351
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter) rs776943352
NM_000179.3(MSH6):c.1866dup (p.Pro623fs) rs2104372581
NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser) rs587779231
NM_000179.3(MSH6):c.3698_3702dup (p.Leu1235fs) rs193922343
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000194.3(HPRT1):c.580G>T (p.Asp194Tyr)
NM_000214.3(JAG1):c.1657del (p.Glu553fs)
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro)
NM_000228.3(LAMB3):c.628+2T>A rs1666753666
NM_000233.4(LHCGR):c.993T>A (p.Tyr331Ter)
NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter) rs2117011952
NM_000238.4(KCNH2):c.80del (p.Arg27fs) rs2117063981
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000251.3(MSH2):c.2181dup (p.Glu728Ter) rs2104378200
NM_000251.3(MSH2):c.2290dup (p.Trp764fs) rs2104402437
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser) rs727504236
NM_000266.4(NDP):c.155T>A (p.Leu52Ter) rs886043097
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter) rs2124419087
NM_000276.4(OCRL):c.2256+1G>T rs2124428298
NM_000278.5(PAX2):c.358dup (p.Ala120fs)
NM_000282.4(PCCA):c.1994dup (p.Met666fs) rs1323994245
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000285.4(PEPD):c.692_694del (p.Tyr231del) rs745834191
NM_000293.3(PHKB):c.1972-2A>G rs964263812
NM_000297.4(PKD2):c.2178dup (p.Glu727fs)
NM_000298.6(PKLR):c.1511G>T (p.Arg504Leu)
NM_000302.4(PLOD1):c.1097+1G>A rs1389548210
NM_000314.8(PTEN):c.39_40del (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.739_740insAT (p.Leu247fs) rs786204902
NM_000321.3(RB1):c.1362C>G (p.Tyr454Ter)
NM_000321.3(RB1):c.381-1G>A rs1566186836
NM_000341.4(SLC3A1):c.1332+2T>C rs758627758
NM_000368.5(TSC1):c.2225del (p.Leu742fs) rs2131741069
NM_000377.3(WAS):c.1270_1295del (p.Gly424fs) rs2147266901
NM_000377.3(WAS):c.1273_1318del (p.Leu425fs)
NM_000393.5(COL5A2):c.2031+1G>A
NM_000400.4(ERCC2):c.2186dup (p.His729fs)
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000421.5(KRT10):c.1374-1G>A
NM_000424.4(KRT5):c.597G>C (p.Lys199Asn)
NM_000426.4(LAMA2):c.5820del (p.Val1941fs) rs2114697790
NM_000431.4(MVK):c.62C>T (p.Ala21Val) rs2136216750
NM_000431.4(MVK):c.79-2A>G rs1884932883
NM_000432.4(MYL2):c.3+2T>C rs111373423
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000455.5(STK11):c.944del (p.Pro315fs) rs2145430705
NM_000478.6(ALPL):c.386G>A (p.Gly129Glu)
NM_000478.6(ALPL):c.658G>A (p.Gly220Arg) rs747488546
NM_000481.4(AMT):c.1066_1067del (p.Leu356fs)
NM_000485.3(APRT):c.518TCT[1] (p.Phe174del) rs121912681
NM_000494.4(COL17A1):c.1233del (p.Thr412fs)
NM_000494.4(COL17A1):c.2435_2440del (p.Glu812_Ser814delinsAla) rs2134590604
NM_000516.7(GNAS):c.1006C>T (p.Arg336Trp) rs2146299968
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000521.4(HEXB):c.447T>A (p.Tyr149Ter) rs1319123888
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
NM_000540.3(RYR1):c.7233del (p.Glu2412fs) rs2145601896
NM_000540.3(RYR1):c.7835+2T>G rs1970195394
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
NM_000546.6(TP53):c.392_398dup (p.Met133fs) rs2151033760
NM_000546.6(TP53):c.97-1G>T rs1597375294
NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr) rs74315387
NM_000557.5(GDF5):c.901C>T (p.Arg301Ter) rs74315386
NM_000718.4(CACNA1B):c.5647C>T (p.Gln1883Ter) rs2131366543
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000944.5(PPP3CA):c.1366G>T (p.Glu456Ter) rs1726803653
NM_000969.5(RPL5):c.110_111dup (p.Ile38Ter) rs2100676956
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001006658.3(CR2):c.624dup (p.Thr209fs) rs747832403
NM_001008537.3(NEXMIF):c.3539C>A (p.Ser1180Ter)
NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter) rs531943246
NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg) rs104893989
NM_001032221.6(STXBP1):c.1110+2T>G
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.579-1G>A rs1588317190
NM_001033560.1(DNAAF4):c.523dup (p.Ile175Asnfs) rs751610886
NM_001039141.3(TRIOBP):c.4881_4882del (p.His1627fs) rs2145843020
NM_001040142.2(SCN2A):c.2287del (p.Leu763fs)
NM_001040142.2(SCN2A):c.644C>A (p.Ala215Glu) rs149024364
NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)
NM_001042492.3(NF1):c.1260+2T>G rs1555611110
NM_001042492.3(NF1):c.204+3_204+6del rs1567814632
NM_001042492.3(NF1):c.2326-1G>T rs1567848100
NM_001042492.3(NF1):c.2375T>A (p.Leu792His) rs1597713777
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=) rs199474750
NM_001042492.3(NF1):c.5040dup (p.Asn1681Ter)
NM_001042492.3(NF1):c.7509C>A (p.Tyr2503Ter) rs1555536359
NM_001042545.2(LTBP4):c.3298C>T (p.Arg1100Ter)
NM_001046.3(SLC12A2):c.1059T>G (p.Tyr353Ter) rs2126697261
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001069.3(TUBB2A):c.872A>C (p.Gln291Pro) rs863224939
NM_001079802.2(FKTN):c.378G>A (p.Trp126Ter) rs2132790782
NM_001080453.3(INTS1):c.544G>T (p.Glu182Ter) rs2128544907
NM_001080517.3(SETD5):c.3476_3477del (p.Gln1159fs)
NM_001081.4(CUBN):c.5548del (p.Ile1850fs) rs2131606542
NM_001082971.2(DDC):c.1055del (p.Pro352fs) rs2042497215
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs) rs1600272344
NM_001127222.2(CACNA1A):c.4927G>T (p.Asp1643Tyr)
NM_001145358.2(SIN3A):c.1261dup (p.Ser421fs) rs2141486160
NM_001163435.3(TBCK):c.677T>A (p.Leu226Ter) rs758167759
NM_001164508.2(NEB):c.19843_19853del (p.Tyr6615fs)
NM_001164508.2(NEB):c.23133_23144delinsG (p.Tyr7712fs) rs2153276539
NM_001164508.2(NEB):c.24004C>T (p.Gln8002Ter) rs2153072192
NM_001165963.4(SCN1A):c.1303del (p.Glu435fs) rs2105861548
NM_001165963.4(SCN1A):c.1337del (p.Gln446fs)
NM_001165963.4(SCN1A):c.2043+1G>A rs751533302
NM_001165963.4(SCN1A):c.4073G>A (p.Trp1358Ter) rs121917961
NM_001167.4(XIAP):c.-32-5232_878-647del
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg) rs1602544454
NM_001170629.2(CHD8):c.1752dup (p.Tyr585fs)
NM_001172509.2(SATB2):c.382del (p.Leu128fs) rs2105867988
NM_001183.6(ATP6AP1):c.1036G>A (p.Glu346Lys) rs878853277
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp) rs1555038090
NM_001197104.2(KMT2A):c.6357del (p.Ile2119_Ile2120insTer) rs2134381253
NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter) rs200497972
NM_001200.4(BMP2):c.275C>A (p.Ser92Ter)
NM_001206641.3(COA6):c.212+163G>A rs947861426
NM_001206641.3(COA6):c.274del (p.Arg92fs) rs2103015324
NM_001206979.2(NR1H4):c.831+1G>T rs1555335782
NM_001211.6(BUB1B):c.1372del (p.Thr458fs)
NM_001235.5(SERPINH1):c.710T>C (p.Met237Thr) rs886039819
NM_001242882.2(NAXD):c.715C>T (p.Gln239Ter) rs1331075407
NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter) rs782074040
NM_001267550.2(TTN):c.40663G>T (p.Glu13555Ter)
NM_001267550.2(TTN):c.56347+1G>A rs1576251664
NM_001267550.2(TTN):c.61977del (p.Ile20660fs) rs2154183984
NM_001267550.2(TTN):c.65802_65803del (p.Thr21935fs) rs2154178644
NM_001267550.2(TTN):c.79673del (p.Glu26558fs)
NM_001267550.2(TTN):c.99381del (p.Arg33127fs)
NM_001270508.2(TNFAIP3):c.1035C>A (p.Tyr345Ter) rs2114496422
NM_001270974.2(HYDIN):c.3829_3832del (p.Leu1277fs)
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) rs863225119
NM_001277115.2(DNAH11):c.3425+1_3425+4del
NM_001277115.2(DNAH11):c.3601G>T (p.Glu1201Ter)
NM_001282531.3(ADNP):c.833dup (p.Lys279fs)
NM_001292034.3(TAB2):c.1104C>G (p.Tyr368Ter) rs2114886711
NM_001292034.3(TAB2):c.1433_1448del (p.Pro478fs)
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001312673.2(PCYT1A):c.935dup (p.Ala313fs)
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter) rs2147145565
NM_001323289.2(CDKL5):c.826-14_835del
NM_001330260.2(SCN8A):c.3967G>T (p.Ala1323Ser) rs794727361
NM_001330260.2(SCN8A):c.4393G>A (p.Asp1465Asn) rs1938178701
NM_001330288.2(SMARCC2):c.1496+2T>G
NM_001347721.2(DYRK1A):c.343G>T (p.Gly115Ter) rs1555980252
NM_001349206.2(LPIN1):c.1276C>T (p.Arg426Ter) rs781748056
NM_001349206.2(LPIN1):c.824delinsAAA (p.Ser275Ter) rs2148644309
NM_001349338.3(FOXP1):c.1429-1G>A
NM_001353345.2(SETD1B):c.5796_5797dup (p.Ile1933fs)
NM_001354930.2(RIPK1):c.1458_1459del (p.Arg487fs) rs2113695996
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.234_235del (p.Gly80fs) rs2147348755
NM_001358530.2(MOCS1):c.124-1G>C
NM_001363711.2(DUOX2):c.3423_3424del (p.His1141fs) rs1009807148
NM_001364905.1(LRBA):c.2259-2A>G rs2127004616
NM_001364905.1(LRBA):c.4158+1G>C
NM_001364905.1(LRBA):c.4466del (p.Pro1489fs)
NM_001365276.2(TNXB):c.4645C>T (p.Gln1549Ter) rs2151921014
NM_001365902.3(NFIX):c.1252C>T (p.Gln418Ter) rs2145476583
NM_001368882.1(COL13A1):c.462+2T>C rs1589245442
NM_001368894.2(PAX6):c.683G>C (p.Arg228Thr) rs2134657107
NM_001369268.1(ACAN):c.1658dup (p.Gly554fs) rs2141587447
NM_001369268.1(ACAN):c.2023C>T (p.Arg675Ter) rs1356219990
NM_001369369.1(FOXN1):c.1367T>A (p.Leu456Ter)
NM_001371928.1(AHDC1):c.1705_1708dup (p.Glu570fs) rs2148284522
NM_001372044.2(SHANK3):c.5166dup (p.Gly1723fs)
NM_001374353.1(GLI2):c.3125_3126insTA (p.Leu1043fs)
NM_001374828.1(ARID1B):c.4232-1G>A
NM_001374828.1(ARID1B):c.6328G>T (p.Glu2110Ter) rs1554237778
NM_001374828.1(ARID1B):c.6407G>A (p.Trp2136Ter)
NM_001375380.1(EBF3):c.971_978dup (p.Thr327delinsSerLysTer) rs2134076706
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001378183.1(PIEZO2):c.4264+1G>A
NM_001378183.1(PIEZO2):c.4775_4778del (p.Lys1592fs)
NM_001378183.1(PIEZO2):c.64+1G>A rs2040867555
NM_001378183.1(PIEZO2):c.7433G>A (p.Trp2478Ter)
NM_001378183.1(PIEZO2):c.7880dup (p.Gln2628fs)
NM_001378454.1(ALMS1):c.10570_10571del (p.Glu3524fs) rs2104104246
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del) rs606231461
NM_001379270.1(CNGA1):c.349G>T (p.Glu117Ter) rs539600817
NM_001379291.1(BRD4):c.3282+2T>C
NM_001379403.1(WDR26):c.1881dup (p.Pro628fs)
NM_001379500.1(COL18A1):c.2032-1G>A
NM_001385012.1(NBEA):c.411G>A (p.Trp137Ter)
NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer) rs1600477446
NM_001394062.1(MACF1):c.7129dup (p.Arg2377fs)
NM_001399.5(EDA):c.4delinsAT (p.Gly2fs)
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.3671+1G>A rs2059103511
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) rs281875325
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys) rs587777385
NM_001844.5(COL2A1):c.1043G>A (p.Gly348Asp) rs2136590361
NM_001845.6(COL4A1):c.1728+2T>C
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter) rs1594535661
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs) rs886043354
NM_001852.4(COL9A2):c.1692_1717del (p.Gly565fs) rs2124040438
NM_001852.4(COL9A2):c.811_821del (p.Gly271fs) rs2124082390
NM_001854.4(COL11A1):c.3168+1G>A rs886042653
NM_001854.4(COL11A1):c.3655-1G>C rs2101074856
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_001972.4(ELANE):c.458C>A (p.Ala153Asp)
NM_001972.4(ELANE):c.731_732del (p.Ser244fs)
NM_001983.4(ERCC1):c.231del (p.Thr78fs) rs2123520960
NM_001999.4(FBN2):c.3974-9A>G
NM_002016.2(FLG):c.7777G>T (p.Gly2593Ter)
NM_002069.6(GNAI1):c.611A>G (p.Gln204Arg)
NM_002109.6(HARS1):c.168del (p.Thr58fs) rs2149845009
NM_002185.5(IL7R):c.41T>C (p.Leu14Ser) rs1759661333
NM_002382.5(MAX):c.55C>T (p.Gln19Ter) rs2139963878
NM_002435.3(MPI):c.796G>A (p.Glu266Lys) rs1595822583
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002860.4(ALDH18A1):c.377G>A (p.Arg126His)
NM_002880.4(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter) rs2045882525
NM_002972.4(SBF1):c.2958C>A (p.Cys986Ter) rs2148587700
NM_003002.4(SDHD):c.52+2T>G rs587776644
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003108.4(SOX11):c.657C>A (p.Cys219Ter)
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_003128.3(SPTBN1):c.3510_3529dup (p.Asp1177fs) rs2103942370
NM_003140.3(SRY):c.263C>G (p.Ser88Ter)
NM_003193.5(TBCE):c.636_639del (p.Asn212fs) rs1226347591
NM_003482.4(KMT2D):c.11746C>T (p.Gln3916Ter)
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003560.4(PLA2G6):c.437dup (p.Cys146fs) rs1216972369
NM_003611.3(OFD1):c.2638G>T (p.Glu880Ter)
NM_003721.4(RFXANK):c.481del (p.Leu161fs) rs2146492780
NM_003722.5(TP63):c.1670G>T (p.Gly557Val) rs2108864735
NM_003748.4(ALDH4A1):c.641del (p.Ala214fs) rs1429118574
NM_003793.4(CTSF):c.1272C>A (p.Cys424Ter) rs2134949827
NM_003922.4(HERC1):c.13153del (p.Gln4385fs)
NM_003922.4(HERC1):c.9920C>G (p.Ser3307Ter) rs2152910468
NM_003998.4(NFKB1):c.1075G>T (p.Glu359Ter)
NM_003998.4(NFKB1):c.407+1G>A rs1723945421
NM_004006.3(DMD):c.9808-2A>G rs1602456486
NM_004183.4(BEST1):c.1100+1G>C rs1434513582
NM_004247.4(EFTUD2):c.45del (p.Glu16fs) rs2145581806
NM_004260.4(RECQL4):c.1093del (p.Arg365fs) rs2130716088
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del) rs766312203
NM_004273.5(CHST3):c.141-1_141inv
NM_004360.5(CDH1):c.1319del (p.Lys440fs)
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004408.4(DNM1):c.1076G>A (p.Gly359Glu)
NM_004423.4(DVL3):c.1715-1G>A rs869025217
NM_004423.4(DVL3):c.1760_1763del (p.Lys587fs) rs2109023897
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala) rs754418186
NM_004544.4(NDUFA10):c.76-2A>G rs917371150
NM_004551.3(NDUFS3):c.382-1del
NM_004586.3(RPS6KA3):c.846-2A>G rs2148665223
NM_004614.5(TK2):c.604_606del (p.Lys202del) rs281865501
NM_004628.5(XPC):c.1969G>T (p.Glu657Ter)
NM_004722.4(AP4M1):c.1138-1G>A
NM_004766.3(COPB2):c.1266dup (p.Ser423fs)
NM_004859.4(CLTC):c.3493C>T (p.Arg1165Ter)
NM_004975.4(KCNB1):c.1133T>G (p.Val378Gly)
NM_004985.5(KRAS):c.175_176delinsTT (p.Ala59Leu)
NM_005097.4(LGI1):c.1095del (p.Asn365fs) rs2134026453
NM_005142.3(CBLIF):c.370+1G>C
NM_005198.5(CHKB):c.467_468del (p.Gln156fs) rs2146656223
NM_005214.5(CTLA4):c.381C>A (p.Tyr127Ter)
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005430.4(WNT1):c.860dup (p.His287fs) rs2137625424
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs) rs763401560
NM_005476.7(GNE):c.31C>T (p.Arg11Trp) rs769716748
NM_005476.7(GNE):c.788G>T (p.Arg263Leu) rs121908623
NM_005515.4(MNX1):c.852+1G>A rs1563700419
NM_005529.7(HSPG2):c.6259C>T (p.Arg2087Ter)
NM_005732.4(RAD50):c.2944A>T (p.Lys982Ter) rs1581004859
NM_005739.4(RASGRP1):c.1418_1428+3del
NM_005859.5(PURA):c.305T>C (p.Leu102Pro) rs793888531
NM_005859.5(PURA):c.720C>G (p.Tyr240Ter) rs1763053854
NM_005881.4(BCKDK):c.879C>A (p.Tyr293Ter) rs989757942
NM_005902.4(SMAD3):c.435_436del (p.Glu145fs)
NM_005956.4(MTHFD1):c.479-2A>G
NM_005957.5(MTHFR):c.1596del (p.Lys531_Tyr532insTer) rs2100506903
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del) rs752461187
NM_006031.6(PCNT):c.2813_2814del (p.Gln938fs) rs2146922620
NM_006031.6(PCNT):c.5881del (p.Val1961fs) rs2147678255
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006245.4(PPP2R5D):c.751G>C (p.Asp251His) rs1762178916
NM_006295.3(VARS1):c.3214T>C (p.Phe1072Leu) rs1230283665
NM_006371.5(CRTAP):c.452T>C (p.Leu151Pro) rs1405064021
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006502.3(POLH):c.1222_1225del (p.Thr408fs)
NM_006502.3(POLH):c.638C>G (p.Ser213Ter) rs763654639
NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter) rs751308379
NM_006767.4(LZTR1):c.2011_2012del (p.Leu671fs)
NM_006772.3(SYNGAP1):c.1914-1G>A
NM_006892.4(DNMT3B):c.2467C>G (p.Arg823Gly) rs2146098171
NM_006908.5(RAC1):c.190T>C (p.Tyr64His)
NM_006940.6(SOX5):c.956del (p.Ile319fs)
NM_007059.4(KPTN):c.184dup (p.Ile62fs) rs1243527780
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs) rs752676391
NM_007357.3(COG2):c.48C>A (p.Cys16Ter) rs2102736333
NM_007374.3(SIX6):c.380del (p.Asp127fs) rs1310548000
NM_012123.4(MTO1):c.89_90dup (p.Ala31fs)
NM_012210.4(TRIM32):c.865_866insG (p.Leu289fs)
NM_012301.4(MAGI2):c.147del (p.Gly50fs) rs2129210679
NM_012309.5(SHANK2):c.4985_4986del (p.Pro1662fs) rs2135665193
NM_012330.4(KAT6B):c.3590del (p.Pro1197fs)
NM_012330.4(KAT6B):c.4054del (p.Glu1352fs) rs2134236431
NM_012330.4(KAT6B):c.4391_4392del (p.Val1464fs) rs2134240152
NM_012414.4(RAB3GAP2):c.1040+1G>T
NM_013275.6(ANKRD11):c.5089C>T (p.Gln1697Ter)
NM_013275.6(ANKRD11):c.5303_5313del (p.Ser1768fs) rs2151745140
NM_013352.4(DSE):c.2538_2541del (p.Lys846fs) rs1784207138
NM_014049.5(ACAD9):c.1674_1692+34del rs2107664575
NM_014231.5(VAMP1):c.340del (p.Ile114fs) rs746220436
NM_014396.4(VPS41):c.1999C>T (p.Arg667Ter)
NM_014444.5(TUBGCP4):c.223C>T (p.Gln75Ter) rs2142767103
NM_014704.4(CEP104):c.1879G>T (p.Glu627Ter) rs750473230
NM_014712.3(SETD1A):c.1720-1G>A
NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter) rs2141540660
NM_014714.4(IFT140):c.4323dup (p.Asn1442fs) rs2141088947
NM_014727.3(KMT2B):c.4847C>T (p.Ala1616Val) rs1599687853
NM_014795.4(ZEB2):c.73+2T>G rs398124282
NM_014846.4(WASHC5):c.3209del (p.Pro1070fs)
NM_015001.3(SPEN):c.2804_2807del (p.Val935fs) rs2148738318
NM_015021.3(ZNF292):c.5650C>T (p.Gln1884Ter)
NM_015021.3(ZNF292):c.5998_6008del (p.Ser2000fs) rs2127871067
NM_015100.4(POGZ):c.2520_2521del (p.His840fs) rs886042027
NM_015100.4(POGZ):c.3124C>T (p.Gln1042Ter)
NM_015100.4(POGZ):c.3361_3362del (p.Met1121fs) rs2102145038
NM_015107.3(PHF8):c.1995+1G>A
NM_015202.5(KATNIP):c.27dup (p.Glu10fs) rs1283389193
NM_015294.6(TRIM37):c.1948+2T>C rs2145613542
NM_015335.5(MED13L):c.746dup (p.Lys250fs) rs1566014158
NM_015426.5(POC1A):c.893G>A (p.Trp298Ter) rs2107090748
NM_015509.4(NECAP1):c.38_39dup (p.Lys14Ter)
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) rs1554480537
NM_015896.4(ZMYND10):c.510+1del
NM_016038.4(SBDS):c.478C>T (p.Gln160Ter)
NM_016188.5(ACTL6B):c.369+1G>C
NM_016219.5(MAN1B1):c.1736delinsCG (p.Gln579fs) rs2131131580
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)
NM_016302.4(CRBN):c.124A>T (p.Lys42Ter) rs2126069389
NM_016312.3(WBP11):c.612del (p.Gly205fs) rs1949868116
NM_016341.4(PLCE1):c.3338_3339del (p.Lys1113fs) rs918508213
NM_016341.4(PLCE1):c.4506+1G>A rs2133127091
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter) rs587777127
NM_016580.4(PCDH12):c.669dup (p.Lys224fs) rs776111123
NM_017739.4(POMGNT1):c.246_262dup (p.Pro88fs) rs2148217590
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter) rs531916765
NM_017952.6(PTCD3):c.710del (p.Thr237fs) rs1674335308
NM_018263.6(ASXL2):c.2707C>T (p.Gln903Ter)
NM_018668.5(VPS33B):c.454CTG[1] (p.Leu153del)
NM_019042.5(PUS7):c.1196G>A (p.Trp399Ter)
NM_019042.5(PUS7):c.303del (p.Phe101fs)
NM_020166.5(MCCC1):c.1732-1G>T rs763877330
NM_020338.4(ZMIZ1):c.2835+2_2835+3del rs2132094719
NM_020381.4(PDSS2):c.1042-1G>A
NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs) rs1571908452
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter) rs2136431608
NM_020661.4(AICDA):c.45C>G (p.Phe15Leu) rs2136433359
NM_020751.3(COG6):c.181del (p.Ser61fs) rs2137941877
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020975.6(RET):c.1759+1G>A
NM_021008.4(DEAF1):c.34_35dup (p.Leu13fs) rs1590028691
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021926.4(ALX4):c.1017del (p.Gly340fs) rs1403155983
NM_021939.4(FKBP10):c.179A>C (p.Gln60Pro) rs2144041758
NM_022041.4(GAN):c.202G>T (p.Gly68Ter) rs2150683817
NM_022124.6(CDH23):c.3579+2T>C rs1385831846
NM_022455.5(NSD1):c.1726_1727del (p.Asn576fs)
NM_022455.5(NSD1):c.4759_4765+2del rs2149904640
NM_022455.5(NSD1):c.5623-2A>C rs2127256836
NM_022455.5(NSD1):c.7540C>T (p.Gln2514Ter)
NM_022455.5(NSD1):c.7638del (p.Leu2548fs) rs2127283800
NM_022552.5(DNMT3A):c.1627G>A (p.Gly543Ser)
NM_023110.3(FGFR1):c.514A>T (p.Lys172Ter)
NM_024120.5(NDUFAF5):c.679del (p.His227fs)
NM_024306.5(FA2H):c.364-1G>A rs2144617577
NM_024408.4(NOTCH2):c.6450del (p.Val2151fs) rs2101144082
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln) rs121907903
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024596.5(MCPH1):c.2214+1G>A
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter) rs1434577015
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs) rs786203488
NM_024685.4(BBS10):c.923T>C (p.Leu308Ser)
NM_024747.6(HPS6):c.1513C>T (p.Gln505Ter)
NM_024769.5(CLMP):c.28+1G>A
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs) rs768112611
NM_025077.4(TOE1):c.1172del (p.Asn391fs) rs777525101
NM_025114.4(CEP290):c.6271-8T>G rs1039146791
NM_025137.4(SPG11):c.6478-2A>C rs2082374687
NM_025233.7(COASY):c.161_171del (p.Gln54fs) rs1408589058
NM_030632.3(ASXL3):c.3511A>T (p.Lys1171Ter)
NM_030650.3(LNPK):c.901dup (p.Cys301fs)
NM_030928.4(CDT1):c.652A>T (p.Lys218Ter)
NM_030973.4(MED25):c.740del (p.Leu247fs) rs2074044055
NM_031229.4(RBCK1):c.745C>T (p.Gln249Ter) rs2016260522
NM_031844.3(HNRNPU):c.1723C>T (p.Arg575Ter)
NM_031844.3(HNRNPU):c.484C>T (p.Gln162Ter)
NM_031844.3(HNRNPU):c.643_652del (p.Lys215fs)
NM_031885.5(BBS2):c.1544del (p.Gly515fs) rs2144134987
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter) rs1603275438
NM_032856.5(WDR73):c.710dup (p.Gly238fs) rs1282630153
NM_032888.4(COL27A1):c.2320C>T (p.Arg774Ter) rs1465820080
NM_033380.3(COL4A5):c.3087_3093del (p.Gly1030fs) rs2147872291
NM_033380.3(COL4A5):c.4087+1G>C
NM_033419.5(PGAP3):c.50_52delinsC (p.Leu17fs) rs2145169684
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter) rs541633673
NM_052867.4(NALCN):c.1959dup (p.Thr654fs) rs2139795638
NM_052874.5(STX1B):c.315_321dup (p.Ser108fs)
NM_053025.4(MYLK):c.472del (p.Glu158fs) rs770373926
NM_053274.3(GLMN):c.971dup (p.Leu324fs) rs2100916637
NM_057175.5(NAA15):c.1410+1del rs2110955293
NM_058172.6(ANTXR2):c.1287_1288del (p.Arg429fs)
NM_058172.6(ANTXR2):c.487-2A>G
NM_078480.3(PUF60):c.274C>T (p.Gln92Ter) rs1210239952
NM_078480.3(PUF60):c.505C>T (p.His169Tyr) rs398123001
NM_078480.3(PUF60):c.841C>T (p.Gln281Ter)
NM_080424.4(SP110):c.1116_1119del (p.Arg373fs) rs2148850717
NM_130837.3(OPA1):c.1230+5G>A rs1057519244
NM_130837.3(OPA1):c.2885_2983+8del
NM_130839.5(UBE3A):c.732_735del (p.Ser245fs) rs2152822637
NM_133433.4(NIPBL):c.5936T>G (p.Val1979Gly) rs2149718188
NM_138927.4(SON):c.202_203del (p.Val68fs)
NM_139058.3(ARX):c.30C>A (p.Cys10Ter) rs794726959
NM_139276.3(STAT3):c.1842_1849delinsTGAAA (p.Lys615_Gly617delinsGluArg)
NM_139276.3(STAT3):c.2131A>G (p.Ile711Val) rs1131691937
NM_139343.3(BIN1):c.1372-1G>A rs1682909859
NM_144572.2(TBC1D2B):c.425delinsTT (p.Cys142fs) rs2141805189
NM_144687.4(NLRP12):c.1113_1116del (p.Lys371fs) rs1599842537
NM_152263.4(TPM3):c.535C>T (p.Arg179Cys)
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs) rs1347701279
NM_152713.5(STT3A):c.1213C>A (p.Arg405Ser)
NM_170675.5(MEIS2):c.1025C>G (p.Ser342Ter) rs2141225080
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362
NM_172107.4(KCNQ2):c.236del (p.Asn79fs)
NM_172107.4(KCNQ2):c.401T>A (p.Ile134Asn) rs2145779680
NM_172107.4(KCNQ2):c.695T>C (p.Leu232Pro) rs2145736778
NM_172232.4(ABCA5):c.2167_2168del (p.Leu723fs) rs2144972355
NM_172362.3(KCNH1):c.1481T>C (p.Ile494Thr) rs2102406873
NM_173076.3(ABCA12):c.667C>T (p.Gln223Ter) rs2106054066
NM_173630.4(RTTN):c.4375-3963_4564+444del
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys) rs869312849
NM_181882.3(PRX):c.3379A>T (p.Lys1127Ter) rs964195568
NM_182931.3(KMT2E):c.1688C>G (p.Ser563Ter) rs2129568923
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs) rs794727577
NM_182972.3(IRF2BP2):c.124_147del (p.Asn42_Val49del)
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_197968.4(ZMYM2):c.2003C>G (p.Ser668Ter)
NM_198407.2(GHSR):c.545T>C (p.Val182Ala) rs1043529281
NM_198514.4(NHLRC2):c.278_279del (p.Cys93fs) rs747117082
NM_198565.3(NRROS):c.719G>A (p.Trp240Ter)
NM_201280.3(BLOC1S5):c.19G>T (p.Glu7Ter)
NM_207037.2(TCF12):c.1621_1622del (p.Glu541fs)
NM_207122.2(EXT2):c.168G>A (p.Trp56Ter)
Single allele

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