Variants with conflicting interpretations "likely pathogenic" from Baylor Genetics and "pathogenic" from any submitter

Minimum review status of the submission from Baylor Genetics:		Collection method of the submission from Baylor Genetics:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 2410

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HGVS	dbSNP	gnomAD frequency
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	rs17107315	0.00797
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	rs104895094	0.00506
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)	rs138213197	0.00160
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	rs121912616	0.00150
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)	rs201754030	0.00136
NM_001041.4(SI):c.1730T>G (p.Val577Gly)	rs121912615	0.00131
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	rs1801155	0.00116
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)	rs61495246	0.00107
NM_000251.3(MSH2):c.942+2T>A	rs587779195	0.00101
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	rs111033212	0.00077
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)	rs150487794	0.00071
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys)	rs137901350	0.00066
NM_198076.6(COX20):c.157+3G>C	rs367956888	0.00066
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	rs145843073	0.00063
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)	rs151201155	0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	rs549794342	0.00061
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)	rs5030872	0.00048
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)	rs376808313	0.00045
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)	rs55886062	0.00040
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)	rs146379816	0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met)	rs779248881	0.00037
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_000152.5(GAA):c.841C>T (p.Arg281Trp)	rs142967546	0.00033
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	rs142763740	0.00032
NM_152443.3(RDH12):c.869T>G (p.Val290Gly)	rs61740289	0.00029
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)	rs150613320	0.00028
NM_001953.5(TYMP):c.622G>A (p.Val208Met)	rs121913039	0.00027
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	rs28934891	0.00026
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)	rs188094280	0.00026
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)	rs146347092	0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)	rs201738967	0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)	rs144078282	0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)	rs199766465	0.00025
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)	rs149866955	0.00023
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)	rs189174414	0.00020
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg)	rs138632121	0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp)	rs200426926	0.00020
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	0.00019
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)	rs141437721	0.00018
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)	rs374963432	0.00018
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)	rs145254330	0.00017
NM_006767.4(LZTR1):c.264-13G>A	rs587777176	0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)	rs371753672	0.00017
NM_000275.3(OCA2):c.1239+5G>C	rs757119713	0.00016
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)	rs200165598	0.00016
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)	rs201947120	0.00016
NM_005912.3(MC4R):c.508A>G (p.Ile170Val)	rs121913560	0.00016
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys)	rs755169246	0.00016
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)	rs148773718	0.00015
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)	rs199821556	0.00014
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)	rs764353860	0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)	rs181396238	0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)	rs199795381	0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)	rs199840367	0.00014
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	rs121908102	0.00013
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)	rs904631654	0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)	rs587778778	0.00011
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)	rs377025174	0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	rs138818907	0.00011
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe)	rs370444838	0.00011
NM_000071.3(CBS):c.770C>T (p.Thr257Met)	rs758236584	0.00010
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)	rs376790302	0.00010
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)	rs200764804	0.00010
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu)	rs375761361	0.00010
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg)	rs149977726	0.00010
NM_021095.4(SLC5A6):c.1865_1866del (p.Gln622fs)	rs774193816	0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg)	rs119466001	0.00010
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)	rs765779905	0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	rs61750145	0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)	rs201604102	0.00009
NM_005609.4(PYGM):c.425-26A>G	rs764313717	0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_033419.5(PGAP3):c.558-10G>A	rs200598755	0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)	rs201105958	0.00009
NM_000152.5(GAA):c.1194+3G>C	rs368539333	0.00008
NM_000152.5(GAA):c.1552-3C>G	rs375470378	0.00008
NM_000274.4(OAT):c.539G>C (p.Arg180Thr)	rs121965040	0.00008
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter)	rs374420253	0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)	rs119103213	0.00008
NM_000152.5(GAA):c.1048G>A (p.Val350Met)	rs200412003	0.00007
NM_000528.4(MAN2B1):c.2046+2T>A	rs748712495	0.00007
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)	rs752683070	0.00007
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs)	rs587781442	0.00007
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter)	rs774654020	0.00007
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)	rs201850378	0.00007
NM_032383.5(HPS3):c.2888-1612G>A	rs281865096	0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)	rs140881518	0.00007
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)	rs147366714	0.00006
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)	rs180177180	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_000170.3(GLDC):c.2216G>A (p.Arg739His)	rs121964980	0.00006
NM_000288.4(PEX7):c.340-10A>G	rs267608255	0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)	rs150719105	0.00006
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys)	rs397514524	0.00006
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)	rs386833680	0.00006
NM_000497.4(CYP11B1):c.799+5G>C	rs193922542	0.00006
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)	rs113994145	0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)	rs200334114	0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	rs200287925	0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)	rs368435864	0.00006
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)	rs386833909	0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)	rs121909254	0.00006
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu)	rs137853151	0.00006
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)	rs587777180	0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)	rs587777178	0.00006
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter)	rs72553882	0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His)	rs768372697	0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)	rs121908345	0.00006
NM_019616.4(F7):c.364+1G>A	rs1056071555	0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)	rs74315398	0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)	rs371518124	0.00006
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)	rs541208827	0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)	rs753472891	0.00005
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	rs121918169	0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)	rs386833646	0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro)	rs62645908	0.00005
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)	rs151247980	0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)	rs121918164	0.00005
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)	rs772073893	0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)	rs369102875	0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)	rs377216516	0.00005
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)	rs371493232	0.00005
NM_005609.4(PYGM):c.2178-1G>A	rs143670942	0.00005
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)	rs767864243	0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met)	rs768176676	0.00005
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)	rs759158371	0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)	rs771025937	0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)	rs200117742	0.00004
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)	rs727503795	0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	rs199524907	0.00004
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)	rs370720208	0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)	rs121908520	0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)	rs398123125	0.00004
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser)	rs760713333	0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val)	rs121964964	0.00004
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)	rs72549304	0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)	rs568132506	0.00004
NM_000153.4(GALC):c.1592G>A (p.Arg531His)	rs200378205	0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met)	rs200607029	0.00004
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)	rs371517491	0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)	rs754967473	0.00004
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)	rs111033810	0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)	rs772802187	0.00004
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser)	rs375329638	0.00004
NM_000277.3(PAH):c.1238G>A (p.Arg413His)	rs79931499	0.00004
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)	rs374547385	0.00004
NM_000303.3(PMM2):c.640-15479C>T	rs1258107584	0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)	rs767635052	0.00004
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser)	rs149889416	0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	rs104894068	0.00004
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)	rs778742647	0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)	rs755350165	0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)	rs28931569	0.00004
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter)	rs757905943	0.00004
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter)	rs752338222	0.00004
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)	rs766163167	0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)	rs80338857	0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)	rs397514345	0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)	rs143348838	0.00004
NM_002225.5(IVD):c.287-1G>A	rs1398838997	0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)	rs72549395	0.00004
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)	rs398124151	0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala)	rs779694939	0.00004
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter)	rs984874083	0.00004
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)	rs587781384	0.00004
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)	rs398124209	0.00004
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)	rs150911354	0.00004
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr)	rs587777688	0.00004
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln)	rs1364709483	0.00004
NM_006493.4(CLN5):c.838G>T (p.Gly280Ter)	rs768449493	0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)	rs775623164	0.00004
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile)	rs121908535	0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)	rs193919336	0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)	rs768785753	0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)	rs121908372	0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)	rs119103224	0.00004
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)	rs752866557	0.00004
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)	rs547662164	0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)	rs758352210	0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)	rs367707903	0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=)	rs119103286	0.00004
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile)	rs761558985	0.00004
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)	rs778906552	0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)	rs771874163	0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)	rs1085307648	0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)	rs534647044	0.00003
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)	rs747714452	0.00003
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)	rs121908718	0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)	rs143962150	0.00003
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)	rs28940287	0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp)	rs1428029508	0.00003
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)	rs769080151	0.00003
NM_000071.3(CBS):c.775G>A (p.Gly259Ser)	rs143124288	0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met)	rs149119723	0.00003
NM_000080.4(CHRNE):c.-95G>A	rs990457690	0.00003
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs)	rs1268475945	0.00003
NM_000108.5(DLD):c.1081A>G (p.Met361Val)	rs121964993	0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)	rs149851163	0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg)	rs199822819	0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)	rs121907938	0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met)	rs104894576	0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His)	rs758430398	0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)	rs567564095	0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)	rs764608975	0.00003
NM_000274.4(OAT):c.596C>A (p.Pro199Gln)	rs267606925	0.00003
NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs)	rs746307353	0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)	rs780296175	0.00003
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)	rs184148104	0.00003
NM_000277.3(PAH):c.428A>T (p.Asp143Val)	rs199475572	0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)	rs762894736	0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu)	rs150726932	0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)	rs771351747	0.00003
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)	rs879253880	0.00003
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	rs61750427	0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)	rs386833679	0.00003
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)	rs864309559	0.00003
NM_000709.4(BCKDHA):c.288+9C>T	rs398123497	0.00003
NM_001018115.3(FANCD2):c.2605+1G>A	rs142365855	0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)	rs587782228	0.00003
NM_001080453.3(INTS1):c.229C>T (p.Arg77Cys)	rs200649090	0.00003
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)	rs397514532	0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)	rs763028732	0.00003
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)	rs888739369	0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	rs1326370032	0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)	rs398123018	0.00003
NM_001352514.2(HLCS):c.2121+1G>A	rs1175936807	0.00003
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)	rs1032242817	0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)	rs397514377	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_002528.7(NTHL1):c.604G>T (p.Glu202Ter)	rs919177150	0.00003
NM_003060.4(SLC22A5):c.1053-2A>C	rs777004046	0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)	rs151231558	0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)	rs386134194	0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg)	rs371295780	0.00003
NM_004453.4(ETFDH):c.405+3A>T	rs796051965	0.00003
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys)	rs143595616	0.00003
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr)	rs121908626	0.00003
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)	rs1005687078	0.00003
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)	rs769172044	0.00003
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala)	rs375215281	0.00003
NM_012203.2(GRHPR):c.905G>A (p.Arg302His)	rs180177323	0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)	rs755933716	0.00003
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)	rs104894492	0.00003
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn)	rs763799125	0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)	rs761221416	0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	rs137853105	0.00003
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)	rs769234940	0.00003
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)	rs104894371	0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)	rs376040501	0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)	rs754626014	0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)	rs770494581	0.00003
NM_176787.5(PIGN):c.1251+1G>A	rs1462805697	0.00003
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)	rs757434857	0.00002
NM_000016.6(ACADM):c.601del (p.Tyr201fs)	rs772650083	0.00002
NM_000016.6(ACADM):c.653C>G (p.Ala218Gly)	rs764268346	0.00002
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)	rs758111285	0.00002
NM_000016.6(ACADM):c.709-13A>G	rs746483754	0.00002
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)	rs768884003	0.00002
NM_000016.6(ACADM):c.984del (p.Met328fs)	rs747610156	0.00002
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)	rs138058572	0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met)	rs121908728	0.00002
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)	rs1569541120	0.00002
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg)	rs761064915	0.00002
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)	rs371840514	0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)	rs568009639	0.00002
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp)	rs749626601	0.00002
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)	rs28929768	0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)	rs372635387	0.00002
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His)	rs104894155	0.00002
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)	rs199763682	0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	rs104886458	0.00002
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser)	rs1297118863	0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=)	rs533540262	0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)	rs1250172816	0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)	rs765362308	0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)	rs774144200	0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)	rs137852886	0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)	rs933624223	0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)	rs1131692030	0.00002
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu)	rs104894642	0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)	rs773526027	0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)	rs779681799	0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln)	rs121918727	0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met)	rs45471299	0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=)	rs181109321	0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)	rs35916840	0.00002
NM_000372.5(TYR):c.1366+1G>T	rs369610829	0.00002
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)	rs773305477	0.00002
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)	rs763006761	0.00002
NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys)	rs138690664	0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His)	rs757918826	0.00002
NM_000492.4(CFTR):c.165-3C>T	rs200337193	0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln)	rs149881706	0.00002
NM_000528.4(MAN2B1):c.1929-1G>T	rs763100457	0.00002
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)	rs780837200	0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	rs146876145	0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)	rs398123479	0.00002
NM_000553.6(WRN):c.210-1G>A	rs758988621	0.00002
NM_000553.6(WRN):c.329dup (p.Tyr110Ter)	rs766733097	0.00002
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)	rs942815730	0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)	rs145901144	0.00002
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)	rs199983136	0.00002
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)	rs786203115	0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)	rs119464998	0.00002
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)	rs1450563045	0.00002
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)	rs201954387	0.00002
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)	rs138156311	0.00002
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)	rs771558691	0.00002
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)	rs145583876	0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)	rs397514369	0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A	rs889110926	0.00002
NM_001876.4(CPT1A):c.1386del (p.Phe462fs)	rs753776604	0.00002
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)	rs747273828	0.00002
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)	rs568885234	0.00002
NM_002437.5(MPV17):c.376-9T>G	rs368900406	0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)	rs763393580	0.00002
NM_002887.4(RARS1):c.1535G>A (p.Arg512Gln)	rs369398935	0.00002
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)	rs761669036	0.00002
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)	rs386833874	0.00002
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp)	rs753656470	0.00002
NM_005591.4(MRE11):c.1867+2T>C	rs745677716	0.00002
NM_005609.4(PYGM):c.1768+2T>G	rs747513238	0.00002
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)	rs750195683	0.00002
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)	rs1057517145	0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)	rs137853100	0.00002
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln)	rs773360200	0.00002
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)	rs750616657	0.00002
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)	rs774242915	0.00002
NM_013339.4(ALG6):c.257+2dup	rs745426479	0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)	rs753711253	0.00002
NM_014249.4(NR2E3):c.290G>A (p.Arg97His)	rs1489149705	0.00002
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)	rs104894424	0.00002
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln)	rs121908422	0.00002
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp)	rs368085185	0.00002
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro)	rs118203929	0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)	rs119470018	0.00002
NM_025099.6(CTC1):c.1360del (p.Glu454fs)	rs748852501	0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu)	rs752866643	0.00002
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	rs199568593	0.00002
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)	rs777999875	0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)	rs759408031	0.00002
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter)	rs748875458	0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)	rs753966933	0.00002
NM_199292.3(TH):c.-71C>T	rs549435434	0.00002
NM_201548.5(CERKL):c.481+2T>G	rs753994107	0.00002
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys)	rs1648832587	0.00001
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)	rs139686925	0.00001
NM_000016.6(ACADM):c.1238G>A (p.Arg413His)	rs1337929727	0.00001
NM_000016.6(ACADM):c.447G>A (p.Met149Ile)	rs121434277	0.00001
NM_000016.6(ACADM):c.464T>C (p.Met155Thr)	rs875989876	0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)	rs745844469	0.00001
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe)	rs751829413	0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln)	rs373852490	0.00001
NM_000016.6(ACADM):c.849+2T>C	rs780737237	0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His)	rs529894272	0.00001
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)	rs398123079	0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)	rs758928307	0.00001
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)	rs1057523504	0.00001
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter)	rs1451455641	0.00001
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)	rs1175359422	0.00001
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)	rs766742117	0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)	rs200366828	0.00001
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)	rs759775666	0.00001
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)	rs200771970	0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)	rs750043368	0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	rs1057520088	0.00001
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)	rs1057516369	0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)	rs727503791	0.00001
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg)	rs763630981	0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)	rs398123090	0.00001
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)	rs140629318	0.00001
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)	rs746860401	0.00001
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)	rs748303093	0.00001
NM_000019.4(ACAT1):c.30del (p.Ser10fs)	rs1565281236	0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)	rs1278227329	0.00001
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)	rs1591363760	0.00001
NM_000019.4(ACAT1):c.749del (p.Val250fs)	rs1565293957	0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)	rs120074146	0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)	rs120074147	0.00001
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)	rs121908717	0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp)	rs121908725	0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)	rs121908740	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_000023.4(SGCA):c.157G>A (p.Ala53Thr)	rs60407644	0.00001
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)	rs771121666	0.00001
NM_000027.4(AGA):c.395-8A>G	rs386833426	0.00001
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)	rs180177161	0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His)	rs180177162	0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val)	rs180177168	0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)	rs138584408	0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)	rs180177203	0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)	rs781862879	0.00001
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu)	rs767219084	0.00001
NM_000046.5(ARSB):c.1336+1G>A	rs376233975	0.00001
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)	rs555785323	0.00001
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter)	rs764546937	0.00001
NM_000048.4(ASL):c.1154G>A (p.Arg385His)	rs746120802	0.00001
NM_000048.4(ASL):c.1193C>A (p.Ala398Asp)	rs770167670	0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)	rs28940585	0.00001
NM_000048.4(ASL):c.331C>T (p.Arg111Trp)	rs138310841	0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)	rs561367199	0.00001
NM_000048.4(ASL):c.376C>T (p.Arg126Trp)	rs201962738	0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)	rs751590073	0.00001
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)	rs754995756	0.00001
NM_000048.4(ASL):c.978G>C (p.Gln326His)	rs764356037	0.00001
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)	rs779440632	0.00001
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu)	rs1057521115	0.00001
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr)	rs769653717	0.00001
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser)	rs750505963	0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr)	rs774323189	0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)	rs202206540	0.00001
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)	rs374172791	0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)	rs121907997	0.00001
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)	rs777629392	0.00001
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)	rs786204643	0.00001
NM_000053.4(ATP7B):c.3060+5G>T	rs1353373400	0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)	rs767464491	0.00001
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)	rs1555282316	0.00001
NM_000053.4(ATP7B):c.51+4A>T	rs369488210	0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)	rs754203833	0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)	rs1057517154	0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)	rs80359035	0.00001
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)	rs730881619	0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)	rs121964971	0.00001
NM_000071.3(CBS):c.373C>T (p.Arg125Trp)	rs886057100	0.00001
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)	rs121964969	0.00001
NM_000080.4(CHRNE):c.1164del (p.Lys388fs)	rs1222065184	0.00001
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)	rs121909514	0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)	rs74315296	0.00001
NM_000098.3(CPT2):c.341-2A>G	rs752468216	0.00001
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)	rs752811843	0.00001
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)	rs121964988	0.00001
NM_000108.5(DLD):c.803_804del (p.Gln268fs)	rs764611160	0.00001
NM_000126.4(ETFA):c.625del (p.Arg209fs)	rs1209473816	0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)	rs1490352414	0.00001
NM_000135.4(FANCA):c.2853-2A>C	rs947311062	0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)	rs1384166265	0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)	rs1291524243	0.00001
NM_000136.3(FANCC):c.1533+1G>C	rs753885687	0.00001
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)	rs779040832	0.00001
NM_000137.4(FAH):c.438del (p.Asn146fs)	rs779642226	0.00001
NM_000137.4(FAH):c.742G>A (p.Gly248Arg)	rs774861939	0.00001
NM_000137.4(FAH):c.836A>G (p.Gln279Arg)	rs121965078	0.00001
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)	rs886044640	0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly)	rs145116688	0.00001
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)	rs104894568	0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)	rs786204720	0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=)	rs947585663	0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)	rs1393386120	0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)	rs763456921	0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)	rs1030961946	0.00001
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg)	rs111033824	0.00001
NM_000155.4(GALT):c.199C>T (p.Arg67Cys)	rs111033658	0.00001
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)	rs1225091358	0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)	rs111033682	0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)	rs111033766	0.00001
NM_000155.4(GALT):c.821-7A>G	rs767337193	0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)	rs111033783	0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr)	rs367543266	0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)	rs111033794	0.00001
NM_000155.4(GALT):c.982C>T (p.Arg328Cys)	rs144993986	0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val)	rs1441030187	0.00001
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)	rs781198373	0.00001
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)	rs1703086906	0.00001
NM_000158.4(GBE1):c.1823_1824del (p.His608fs)	rs1175447973	0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)	rs137852891	0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)	rs137852887	0.00001
NM_000158.4(GBE1):c.993-1G>T	rs763016962	0.00001
NM_000159.4(GCDH):c.1199dup (p.Ile401fs)	rs1970722328	0.00001
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)	rs745360675	0.00001
NM_000159.4(GCDH):c.198del (p.Ile67fs)	rs1057517088	0.00001
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)	rs886043840	0.00001
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)	rs1176799813	0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)	rs749452002	0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)	rs587779227	0.00001
NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp)	rs1023807527	0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)	rs780351691	0.00001
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)	rs552292698	0.00001
NM_000183.3(HADHB):c.693_696dup (p.Ala233fs)	rs745646607	0.00001
NM_000183.3(HADHB):c.740G>A (p.Arg247His)	rs121913133	0.00001
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter)	rs1323958195	0.00001
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)	rs774010006	0.00001
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)	rs775112689	0.00001
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)	rs1479831530	0.00001
NM_000199.5(SGSH):c.545G>A (p.Arg182His)	rs372911015	0.00001
NM_000231.3(SGCG):c.342dup (p.Ala115fs)	rs1262459682	0.00001
NM_000231.3(SGCG):c.559del (p.Asp187fs)	rs1484553312	0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)	rs751427686	0.00001
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter)	rs773554421	0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)	rs587778998	0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)	rs104893750	0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)	rs1555636659	0.00001
NM_000274.4(OAT):c.162C>A (p.Asn54Lys)	rs121965048	0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)	rs121965051	0.00001
NM_000274.4(OAT):c.796C>T (p.Gln266Ter)	rs1951458291	0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile)	rs386833618	0.00001
NM_000275.3(OCA2):c.1045-9T>G	rs755604671	0.00001
NM_000275.3(OCA2):c.2135del (p.Ile712fs)	rs775008954	0.00001
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)	rs776814755	0.00001
NM_000275.3(OCA2):c.807+1G>T	rs763219039	0.00001
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)	rs1402168594	0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His)	rs62508695	0.00001
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)	rs281865440	0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val)	rs199475632	0.00001
NM_000277.3(PAH):c.545A>G (p.Glu182Gly)	rs199475617	0.00001
NM_000277.3(PAH):c.716G>T (p.Gly239Val)	rs62507283	0.00001
NM_000277.3(PAH):c.835C>G (p.Pro279Ala)	rs1555204441	0.00001
NM_000277.3(PAH):c.842+3G>C	rs62507324	0.00001
NM_000277.3(PAH):c.922C>T (p.Leu308Phe)	rs62642095	0.00001
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)	rs121964958	0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)	rs192171304	0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)	rs771438170	0.00001
NM_000282.4(PCCA):c.2119-9A>G	rs1389933015	0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)	rs1387778734	0.00001
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)	rs2053984648	0.00001
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)	rs778530330	0.00001
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)	rs760739894	0.00001
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)	rs767447750	0.00001
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter)	rs1056238409	0.00001
NM_000286.3(PEX12):c.680+1G>A	rs904972651	0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs)	rs1258472160	0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)	rs61753225	0.00001
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)	rs267608239	0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)	rs1010184002	0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)	rs187131358	0.00001
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)	rs41291965	0.00001
NM_000295.5(SERPINA1):c.646+1G>T	rs751235320	0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)	rs759513930	0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)	rs767831048	0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)	rs760265100	0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)	rs398123309	0.00001
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter)	rs796052925	0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)	rs746043871	0.00001
NM_000310.4(PPT1):c.739T>C (p.Tyr247His)	rs386833665	0.00001
NM_000317.3(PTS):c.186+1G>T	rs1256819927	0.00001
NM_000317.3(PTS):c.367C>T (p.Pro123Ser)	rs141163668	0.00001
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)	rs1317230624	0.00001
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter)	rs1224562361	0.00001
NM_000353.3(TAT):c.355C>T (p.Arg119Trp)	rs758306831	0.00001
NM_000353.3(TAT):c.916C>T (p.Arg306Ter)	rs1316166172	0.00001
NM_000359.3(TGM1):c.1075G>A (p.Val359Met)	rs202037016	0.00001
NM_000359.3(TGM1):c.1645+1G>T	rs774242987	0.00001
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys)	rs397514525	0.00001
NM_000360.4(TH):c.1141C>A (p.Gln381Lys)	rs121917762	0.00001
NM_000372.5(TYR):c.1036+1G>A	rs763715899	0.00001
NM_000372.5(TYR):c.1106A>G (p.Tyr369Cys)	rs149912348	0.00001
NM_000372.5(TYR):c.1346A>G (p.Tyr449Cys)	rs1944765423	0.00001
NM_000372.5(TYR):c.290G>T (p.Gly97Val)	rs1320376090	0.00001
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys)	rs1327401976	0.00001
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)	rs749013429	0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)	rs1060499808	0.00001
NM_000441.2(SLC26A4):c.2319+1G>A	rs542079779	0.00001
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr)	rs1205712508	0.00001
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)	rs796666047	0.00001
NM_000478.6(ALPL):c.1182dup (p.Ile395fs)	rs754826836	0.00001
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val)	rs772682471	0.00001
NM_000478.6(ALPL):c.119C>T (p.Ala40Val)	rs770093969	0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)	rs766656419	0.00001
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg)	rs1413274209	0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)	rs199590449	0.00001
NM_000481.4(AMT):c.139G>A (p.Gly47Arg)	rs121964982	0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro)	rs1053797603	0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)	rs779483959	0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)	rs766422988	0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	rs397508783	0.00001
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)	rs104894069	0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)	rs104894248	0.00001
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)	rs778554304	0.00001
NM_000528.4(MAN2B1):c.1528-1G>A	rs561991886	0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)	rs772108001	0.00001
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)	rs1349202366	0.00001
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)	rs202247822	0.00001
NM_000532.5(PCCB):c.371del (p.Gln124fs)	rs1481849460	0.00001
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)	rs756414710	0.00001
NM_000535.7(PMS2):c.538-2A>G	rs758304323	0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys)	rs747143343	0.00001
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser)	rs120074119	0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)	rs200763423	0.00001
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter)	rs371720457	0.00001
NM_000553.6(WRN):c.3384-1G>A	rs776963381	0.00001
NM_000553.6(WRN):c.673C>T (p.Arg225Ter)	rs370324188	0.00001
NM_000553.6(WRN):c.88G>T (p.Glu30Ter)	rs1198210848	0.00001
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter)	rs1432024176	0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)	rs775685508	0.00001
NM_000642.3(AGL):c.685C>T (p.Gln229Ter)	rs971749992	0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)	rs145362161	0.00001
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)	rs182923857	0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)	rs398123486	0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)	rs369448982	0.00001
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)	rs137852874	0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)	rs137852873	0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)	rs200883871	0.00001
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)	rs1398584213	0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)	rs72551312	0.00001
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln)	rs1281276965	0.00001
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro)	rs1181436417	0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)	rs121917786	0.00001
NM_001018115.3(FANCD2):c.491+1G>A	rs943009372	0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)	rs778289599	0.00001
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter)	rs370124822	0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)	rs777184451	0.00001
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met)	rs776487884	0.00001
NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter)	rs1064796630	0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)	rs769237459	0.00001
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)	rs797045044	0.00001
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)	rs375656231	0.00001
NM_001113378.2(FANCI):c.3006+3A>G	rs1294973649	0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp)	rs397514526	0.00001
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter)	rs1305702728	0.00001
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr)	rs948998853	0.00001
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu)	rs193302890	0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	rs779526456	0.00001
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter)	rs766764090	0.00001
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)	rs1243213118	0.00001
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)	rs776995095	0.00001
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)	rs748382994	0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)	rs387907119	0.00001
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)	rs1025201214	0.00001
NM_001243279.3(ACSF3):c.1613+1G>A	rs770400253	0.00001
NM_001243279.3(ACSF3):c.305del (p.Cys102fs)	rs760759040	0.00001
NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter)	rs1313088429	0.00001
NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter)	rs749538361	0.00001
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)	rs759338401	0.00001
NM_001243279.3(ACSF3):c.866del (p.Val289fs)	rs758740850	0.00001
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter)	rs767220480	0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)	rs370343781	0.00001
NM_001358530.2(MOCS1):c.1102+2T>C	rs1345407391	0.00001
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr)	rs770819693	0.00001
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)	rs1046560765	0.00001
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro)	rs121912195	0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)	rs779896782	0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter)	rs1057516262	0.00001
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys)	rs121908429	0.00001
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)	rs397514410	0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)	rs397514402	0.00001
NM_001370658.1(BTD):c.1324del (p.Arg442fs)	rs397514420	0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)	rs771537277	0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)	rs397514429	0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His)	rs397514343	0.00001
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)	rs587783002	0.00001
NM_001370658.1(BTD):c.250-15del	rs587783008	0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)	rs575787457	0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)	rs397514363	0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His)	rs112195009	0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)	rs397514381	0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)	rs397514382	0.00001
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)	rs397514387	0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)	rs749162799	0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)	rs267607235	0.00001
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln)	rs397514635	0.00001
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)	rs760791287	0.00001
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter)	rs773153659	0.00001
NM_001876.4(CPT1A):c.589G>T (p.Glu197Ter)	rs1211665230	0.00001
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)	rs779893091	0.00001
NM_001918.5(DBT):c.1430T>G (p.Met477Arg)	rs398123662	0.00001
NM_001918.5(DBT):c.52-1G>A	rs755914063	0.00001
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn)	rs1064792861	0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)	rs121913042	0.00001
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)	rs148045813	0.00001
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)	rs754600862	0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)	rs1477527791	0.00001
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)	rs1237032588	0.00001
NM_002225.5(IVD):c.784+1G>A	rs763471771	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.166C>T (p.Arg56Ter)	rs757168691	0.00001
NM_002435.3(MPI):c.251C>G (p.Ser84Ter)	rs978284448	0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter)	rs776340315	0.00001
NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter)	rs2084372140	0.00001
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)	rs374489979	0.00001
NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter)	rs1198246754	0.00001
NM_002693.3(POLG):c.1433+2T>C	rs920850257	0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)	rs764287987	0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)	rs140079523	0.00001
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)	rs761649878	0.00001
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys)	rs56047213	0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)	rs776031396	0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)	rs781256643	0.00001
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)	rs754008420	0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)	rs746187344	0.00001
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs)	rs781330134	0.00001
NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe)	rs72552733	0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)	rs72552734	0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe)	rs386134222	0.00001
NM_003060.4(SLC22A5):c.394-16T>A	rs775097754	0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)	rs1178584184	0.00001
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser)	rs386134198	0.00001
NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)	rs756650860	0.00001
NM_003060.4(SLC22A5):c.71del (p.Leu24fs)	rs775502377	0.00001
NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe)	rs386134208	0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)	rs773138218	0.00001
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)	rs587784332	0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs)	rs753338285	0.00001
NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter)	rs773357652	0.00001
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs)	rs752263234	0.00001
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs)	rs1355745932	0.00001
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)	rs1172887273	0.00001
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)	rs748289922	0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)	rs537038850	0.00001
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)	rs770931044	0.00001
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys)	rs386833961	0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)	rs761584017	0.00001
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)	rs762009737	0.00001
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter)	rs780001540	0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)	rs137852760	0.00001
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)	rs757681143	0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)	rs756251887	0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)	rs377225525	0.00001
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)	rs143550601	0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)	rs119103253	0.00001
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)	rs1483102315	0.00001
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter)	rs1223885403	0.00001
NM_005609.4(PYGM):c.661-601G>A	rs1474863903	0.00001
NM_005677.4(COLQ):c.1281C>T (p.Cys427=)	rs185829251	0.00001
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter)	rs373428259	0.00001
NM_005732.4(RAD50):c.552-1G>A	rs1236278956	0.00001
NM_005732.4(RAD50):c.94dup (p.Thr32fs)	rs587781625	0.00001
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys)	rs181969865	0.00001
NM_006214.4(PHYH):c.610G>A (p.Gly204Ser)	rs104894173	0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His)	rs104894386	0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)	rs148862100	0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)	rs769256568	0.00001
NM_006767.4(LZTR1):c.1785+1G>A	rs145594158	0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)	rs1223430276	0.00001
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter)	rs760502479	0.00001
NM_007194.4(CHEK2):c.1489del (p.Asp497fs)	rs774175654	0.00001
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)	rs1064793817	0.00001
NM_007194.4(CHEK2):c.319+1G>A	rs765080766	0.00001
NM_007194.4(CHEK2):c.592+3A>T	rs587782849	0.00001
NM_007272.3(CTRC):c.494-1G>C	rs766917452	0.00001
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)	rs180177307	0.00001
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg)	rs180177312	0.00001
NM_012213.3(MLYCD):c.928C>T (p.Arg310Ter)	rs759043861	0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)	rs1472109408	0.00001
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)	rs762643273	0.00001
NM_013339.4(ALG6):c.680+1G>A	rs1253289234	0.00001
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)	rs267606970	0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro)	rs190285831	0.00001
NM_014049.5(ACAD9):c.1553G>A (p.Arg518His)	rs781149699	0.00001
NM_014171.6(CRIPT):c.8G>A (p.Cys3Tyr)	rs757078301	0.00001
NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys)	rs121434440	0.00001
NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met)	rs768922690	0.00001
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln)	rs104894431	0.00001
NM_014297.5(ETHE1):c.375+5G>A	rs769259233	0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)	rs1057517250	0.00001
NM_014762.4(DHCR24):c.281G>A (p.Arg94His)	rs387906939	0.00001
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)	rs1347498294	0.00001
NM_015702.3(MMADHC):c.154+1G>A	rs1385597423	0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)	rs118204046	0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)	rs564185858	0.00001
NM_017534.6(MYH2):c.4537+1G>A	rs567336764	0.00001
NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter)	rs200788163	0.00001
NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter)	rs367625370	0.00001
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)	rs398124352	0.00001
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter)	rs1713700813	0.00001
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter)	rs1163620394	0.00001
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val)	rs748201122	0.00001
NM_020166.5(MCCC1):c.872del (p.Ala291fs)	rs748269732	0.00001
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)	rs767122713	0.00001
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys)	rs121912822	0.00001
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys)	rs121912816	0.00001
NM_020549.5(CHAT):c.1510C>T (p.Arg504Ter)	rs371470622	0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)	rs121912819	0.00001
NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter)	rs1458796820	0.00001
NM_021922.3(FANCE):c.1114-8G>A	rs878854342	0.00001
NM_021922.3(FANCE):c.1510-1G>A	rs772678337	0.00001
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)	rs752690798	0.00001
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter)	rs751393852	0.00001
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)	rs780304038	0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)	rs767575019	0.00001
NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter)	rs1304896406	0.00001
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)	rs119103222	0.00001
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)	rs774180632	0.00001
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr)	rs531254130	0.00001
NM_024422.6(DSC2):c.631-2A>G	rs397514042	0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)	rs121917778	0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)	rs200688985	0.00001
NM_024675.4(PALB2):c.156del (p.Glu53fs)	rs587776406	0.00001
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)	rs755263466	0.00001
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)	rs180177115	0.00001
NM_024675.4(PALB2):c.3113+5G>C	rs876659463	0.00001
NM_024675.4(PALB2):c.3201+1G>T	rs587776423	0.00001
NM_024675.4(PALB2):c.3350+5G>A	rs587782566	0.00001
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)	rs774456344	0.00001
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)	rs863224032	0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)	rs113994149	0.00001
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter)	rs1603342313	0.00001
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)	rs1339743866	0.00001
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)	rs575595017	0.00001
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)	rs1483527885	0.00001
NM_032383.5(HPS3):c.2589+2T>C	rs1411572278	0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)	rs28938468	0.00001
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp)	rs778169806	0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)	rs749758687	0.00001
NM_052845.4(MMAB):c.584G>A (p.Arg195His)	rs756195708	0.00001
NM_054012.4(ASS1):c.175-1119G>A	rs1488840592	0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)	rs121908643	0.00001
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys)	rs148918985	0.00001
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter)	rs1011767398	0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)	rs137852946	0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)	rs398124492	0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)	rs886061616	0.00001
NM_152383.5(DIS3L2):c.1096G>T (p.Glu366Ter)	rs760123810	0.00001
NM_152383.5(DIS3L2):c.1162C>T (p.Arg388Ter)	rs766629924	0.00001
NM_152383.5(DIS3L2):c.127C>T (p.Arg43Ter)	rs762653147	0.00001
NM_152383.5(DIS3L2):c.2170C>T (p.Arg724Ter)	rs773260717	0.00001
NM_152443.3(RDH12):c.133A>G (p.Thr45Ala)	rs1225487694	0.00001
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp)	rs745871149	0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala)	rs74315399	0.00001
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro)	rs760875006	0.00001
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)	rs200577967	0.00001
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter)	rs768412580	0.00001
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)	rs765676754	0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)	rs1451348539	0.00001
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser)	rs1323513432
NM_000016.6(ACADM):c.1040G>T (p.Gly347Val)
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)	rs1462472677
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr)	rs1361089796
NM_000016.6(ACADM):c.165del (p.Phe55fs)	rs1319192670
NM_000016.6(ACADM):c.217-1G>A	rs1570861829
NM_000016.6(ACADM):c.217-2A>G	rs1647169738
NM_000016.6(ACADM):c.224del (p.Val75fs)	rs1057516480
NM_000016.6(ACADM):c.24C>A (p.Cys8Ter)	rs2100332723
NM_000016.6(ACADM):c.260T>C (p.Met87Thr)	rs767649048
NM_000016.6(ACADM):c.30+1G>C
NM_000016.6(ACADM):c.383dup (p.Leu128fs)	rs1647189225
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)	rs875989857
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)	rs1553123263
NM_000016.6(ACADM):c.472T>C (p.Tyr158His)	rs1570876467
NM_000016.6(ACADM):c.47del (p.Ser16fs)	rs1325949559
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr)	rs200754053
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)	rs1553123869
NM_000016.6(ACADM):c.554T>C (p.Ile185Thr)	rs1647480996
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala)	rs121434279
NM_000016.6(ACADM):c.613G>C (p.Ala205Pro)	rs1324329442
NM_000016.6(ACADM):c.67C>T (p.Gln23Ter)	rs1570851702
NM_000016.6(ACADM):c.778_782del (p.Glu260fs)	rs2100417619
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
NM_000016.6(ACADM):c.982A>G (p.Met328Val)	rs1648825926
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)	rs1555527532
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)	rs754325237
NM_000018.4(ACADVL):c.1077+1G>A	rs140989450
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC	rs1057516686
NM_000018.4(ACADVL):c.1145del (p.Lys382fs)	rs1281137823
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)	rs118204018
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val)	rs2071345754
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)	rs2071345821
NM_000018.4(ACADVL):c.1316dup (p.Met440fs)	rs748077880
NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)	rs1060499596
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)
NM_000018.4(ACADVL):c.1808del (p.Cys603fs)	rs2142990894
NM_000018.4(ACADVL):c.192del (p.Lys64fs)	rs771055189
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)	rs765432568
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)	rs1597520263
NM_000018.4(ACADVL):c.421dup (p.Ala141fs)	rs2071185652
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)	rs375284481
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro)	rs1597524963
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)	rs768975918
NM_000018.4(ACADVL):c.626dup (p.Thr210fs)	rs2142976531
NM_000018.4(ACADVL):c.688dup (p.Thr230fs)	rs2071255080
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)	rs1197133430
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)	rs886044671
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)	rs387906282
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)	rs1367121673
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)	rs2134791667
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)	rs746332363
NM_000019.4(ACAT1):c.134dup (p.Ser46fs)	rs1444451434
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs)	rs2135356039
NM_000019.4(ACAT1):c.537del (p.Ile179fs)	rs1415293773
NM_000019.4(ACAT1):c.571del (p.Ile191fs)	rs761038005
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
NM_000019.4(ACAT1):c.64_72+10del	rs1318268067
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter)	rs2134768525
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
NM_000019.4(ACAT1):c.824del (p.Asn275fs)	rs1163072872
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)	rs886041122
NM_000019.4(ACAT1):c.905del (p.Lys302fs)	rs398123097
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)	rs1419063255
NM_000022.4(ADA):c.311C>T (p.Pro104Leu)	rs1452483770
NM_000022.4(ADA):c.366_367del (p.Asp123fs)	rs758073965
NM_000022.4(ADA):c.412C>T (p.Gln138Ter)
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)	rs748810619
NM_000022.4(ADA):c.603C>A (p.Tyr201Ter)	rs1555844395
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)	rs778809577
NM_000022.4(ADA):c.854dup (p.Asn285fs)	rs2123511347
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)	rs1598277713
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)	rs2144493427
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)	rs766400853
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs)	rs1567739339
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)	rs1161291343
NM_000023.4(SGCA):c.377dup (p.Asp126fs)	rs1905070544
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)	rs372210292
NM_000023.4(SGCA):c.464del (p.Ser155fs)	rs1555568775
NM_000023.4(SGCA):c.596del (p.Lys199fs)
NM_000023.4(SGCA):c.747+1G>A	rs886043392
NM_000023.4(SGCA):c.801dup (p.Ile268fs)	rs1905256830
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)	rs121964907
NM_000027.4(AGA):c.192del (p.Cys64fs)	rs1553994830
NM_000027.4(AGA):c.198_201del (p.Arg66fs)
NM_000027.4(AGA):c.302C>T (p.Ala101Val)	rs121964908
NM_000027.4(AGA):c.329del (p.Asn110fs)	rs764357395
NM_000027.4(AGA):c.333del (p.Ile112fs)	rs1057517223
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)	rs386833423
NM_000027.4(AGA):c.365C>A (p.Thr122Lys)	rs771563230
NM_000027.4(AGA):c.375_376del (p.Leu126fs)	rs386833425
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)	rs748171793
NM_000027.4(AGA):c.595G>T (p.Glu199Ter)	rs370078048
NM_000027.4(AGA):c.916T>C (p.Cys306Arg)	rs121964906
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)	rs180177197
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	rs34116584
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg)	rs2106428650
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)	rs180177235
NM_000030.3(AGXT):c.662_664del (p.Ser221del)	rs796052071
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys)	rs796052072
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg)	rs180177264
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp)	rs180177302
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)	rs1557054173
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs)	rs2091749146
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)	rs1603231784
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs)	rs2148388986
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)	rs1131691916
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)	rs781904944
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)	rs118204428
NM_000035.4(ALDOB):c.302del (p.Lys101fs)	rs974582114
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter)	rs2118366288
NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)
NM_000038.6(APC):c.1191_1192dup (p.Lys398fs)	rs2149782311
NM_000038.6(APC):c.1879_1880del (p.Asn627fs)
NM_000038.6(APC):c.203del (p.Leu68fs)	rs1756331894
NM_000038.6(APC):c.221-1G>C	rs863225327
NM_000038.6(APC):c.2907_2911dup (p.Asp971fs)
NM_000038.6(APC):c.3224del (p.Tyr1075fs)	rs1765368708
NM_000038.6(APC):c.3642del (p.Ser1214fs)	rs2149896180
NM_000038.6(APC):c.4145del (p.Leu1382fs)	rs2149907596
NM_000038.6(APC):c.423-3T>A	rs587782293
NM_000038.6(APC):c.423-3_423-2del	rs863225354
NM_000038.6(APC):c.503del (p.Arg168fs)	rs2149615791
NM_000038.6(APC):c.531+1G>C	rs876659973
NM_000038.6(APC):c.7135dup (p.Thr2379fs)
NM_000038.6(APC):c.7300del (p.Arg2434fs)
NM_000038.6(APC):c.7467_7468dup (p.Asp2490fs)	rs1554088383
NM_000038.6(APC):c.7477_7478del (p.Leu2493fs)	rs1554088391
NM_000038.6(APC):c.7489dup (p.Ser2497fs)	rs1409414498
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter)	rs79630786
NM_000038.6(APC):c.7678C>T (p.Arg2560Ter)	rs1580685528
NM_000038.6(APC):c.7798_7801del (p.Gln2600fs)	rs1561618361
NM_000038.6(APC):c.7928dup (p.Ile2644fs)
NM_000038.6(APC):c.904C>T (p.Arg302Ter)	rs137854568
NM_000045.4(ARG1):c.341_344dup (p.Asp117fs)
NM_000045.4(ARG1):c.366G>A (p.Trp122Ter)	rs2114539596
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)	rs1451472748
NM_000045.4(ARG1):c.707dup (p.Asp237fs)
NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)
NM_000046.5(ARSB):c.108_120del (p.Ser37fs)	rs1028653411
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs)	rs766772376
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)	rs1355071930
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn)	rs1554032217
NM_000046.5(ARSB):c.173del (p.Asn58fs)	rs1180759765
NM_000046.5(ARSB):c.323G>T (p.Gly108Val)	rs768802200
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)	rs1408739927
NM_000048.4(ASL):c.111_133del (p.Asp38fs)	rs1554326267
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)	rs1554328459
NM_000048.4(ASL):c.1300G>T (p.Val434Leu)	rs773071023
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)	rs796051931
NM_000048.4(ASL):c.614C>T (p.Ala205Val)	rs796051925
NM_000048.4(ASL):c.974T>G (p.Leu325Ter)
NM_000049.4(ASPA):c.101G>A (p.Trp34Ter)	rs2150741763
NM_000049.4(ASPA):c.147dup (p.Pro50fs)	rs1597422432
NM_000049.4(ASPA):c.245del (p.Met82fs)	rs1057516962
NM_000049.4(ASPA):c.283G>T (p.Glu95Ter)
NM_000049.4(ASPA):c.321_322del (p.Ser108fs)	rs1289890879
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg)	rs104894548
NM_000049.4(ASPA):c.548C>A (p.Pro183His)	rs1555539857
NM_000049.4(ASPA):c.609del (p.Asp204fs)	rs1597439149
NM_000049.4(ASPA):c.71A>G (p.Glu24Gly)	rs104894551
NM_000049.4(ASPA):c.885dup (p.Ala296fs)
NM_000051.4(ATM):c.-30-1G>T	rs869312754
NM_000051.4(ATM):c.1045_1052del (p.Met349fs)	rs1565375817
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
NM_000051.4(ATM):c.1333del (p.Gln445fs)	rs1060501701
NM_000051.4(ATM):c.1772dup (p.Asn591fs)	rs1591528248
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)	rs1057516446
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)	rs758852420
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)	rs864622251
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)	rs1339238483
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
NM_000051.4(ATM):c.6976-2A>C	rs587782403
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)	rs1591171790
NM_000051.4(ATM):c.900del (p.Gly301fs)	rs1555067335
NM_000053.4(ATP7B):c.104_105insT (p.Lys35fs)	rs1316032472
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs)	rs1060499593
NM_000053.4(ATP7B):c.1543+1G>A
NM_000053.4(ATP7B):c.1908dup (p.Asn637fs)
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr)	rs72552285
NM_000053.4(ATP7B):c.2011_2012dup (p.Met671fs)	rs1555291870
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys)	rs1212479289
NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter)
NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del)	rs2139201690
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)	rs121907993
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs)	rs1555288385
NM_000053.4(ATP7B):c.2866-2del	rs1593681941
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)	rs199623434
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)	rs775055397
NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg)	rs747584649
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu)	rs778543794
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)	rs1057516479
NM_000053.4(ATP7B):c.365_366delinsGGGCTTCGAA (p.Glu122fs)
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)	rs886042519
NM_000053.4(ATP7B):c.3904-2del	rs1957032734
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)	rs587783317
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)	rs1444841250
NM_000053.4(ATP7B):c.4124+1G>A
NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter)	rs2138407151
NM_000053.4(ATP7B):c.4229G>A (p.Trp1410Ter)
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)	rs1555282191
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs)	rs1345677703
NM_000053.4(ATP7B):c.528del (p.Ser177fs)	rs2140098691
NM_000053.4(ATP7B):c.804dup (p.Lys269Ter)	rs1952004098
NM_000053.4(ATP7B):c.841del (p.Gln281fs)
NM_000053.4(ATP7B):c.956del (p.Pro319fs)	rs753674382
NM_000057.4(BLM):c.1399dup (p.Asp467fs)	rs1555419862
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
NM_000057.4(BLM):c.1487del (p.Leu496fs)	rs2151158316
NM_000057.4(BLM):c.1622del (p.Asn541fs)
NM_000057.4(BLM):c.213_214del (p.Ser72fs)	rs960430492
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)	rs1555420602
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)	rs1555420844
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)	rs1567045235
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)	rs1412341951
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)	rs1060503989
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)	rs1555423753
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)	rs1897236255
NM_000057.4(BLM):c.3845del (p.Leu1282fs)	rs1897350204
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
NM_000057.4(BLM):c.709del (p.Cys237fs)	rs1217879599
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
NM_000057.4(BLM):c.800-2A>G	rs1895690125
NM_000057.4(BLM):c.855del (p.Val286fs)	rs2151149598
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer)	rs587779358
NM_000059.4(BRCA2):c.631+3A>G	rs397507840
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)	rs80359012
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)	rs794727895
NM_000071.3(CBS):c.1218del (p.Lys406fs)	rs794727083
NM_000071.3(CBS):c.262C>T (p.Pro88Ser)	rs2146413970
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)	rs1347662650
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)	rs745704046
NM_000071.3(CBS):c.481del (p.Arg161fs)	rs2146387904
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)	rs794727835
NM_000071.3(CBS):c.580_599del (p.Asn194fs)
NM_000071.3(CBS):c.667-14_667-7del	rs764160782
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	rs763835246
NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)	rs528689432
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)
NM_000071.3(CBS):c.98del (p.Pro33fs)	rs2146428203
NM_000071.3(CBS):c.992C>A (p.Ala331Glu)	rs777919630
NM_000080.4(CHRNE):c.1108del (p.Arg370fs)	rs1969856640
NM_000080.4(CHRNE):c.115dup (p.Ser39fs)	rs977512223
NM_000080.4(CHRNE):c.1203del (p.Gln402fs)	rs1429181185
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs)	rs769945146
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter)	rs918839874
NM_000080.4(CHRNE):c.1371del (p.Cys458fs)	rs1597612665
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)	rs28999110
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)	rs759226183
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)	rs370019023
NM_000080.4(CHRNE):c.934_936del (p.Met312del)	rs1555546465
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter)	rs56377005
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter)	rs754616030
NM_000081.4(LYST):c.192+1G>A
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
NM_000081.4(LYST):c.3433del (p.His1145fs)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)	rs1584320605
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp)	rs1576471840
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter)	rs587779646
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)	rs794728060
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=)	rs587779565
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp)	rs1553507614
NM_000098.3(CPT2):c.1324dup (p.Thr442fs)	rs1131691330
NM_000098.3(CPT2):c.852del (p.Glu285fs)	rs1057517729
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn)	rs1423560123
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp)	rs1423560123
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)	rs2116271469
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)	rs747810875
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer)	rs1554396895
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly)	rs121964989
NM_000108.5(DLD):c.821dup (p.Leu274fs)	rs751883130
NM_000108.5(DLD):c.82dup (p.Ser28fs)
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
NM_000126.4(ETFA):c.319_322del (p.His107fs)	rs866218814
NM_000126.4(ETFA):c.495_496del (p.Ser167fs)	rs1298299792
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)	rs752864343
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)	rs1060501879
NM_000135.4(FANCA):c.1475A>G (p.His492Arg)	rs925457555
NM_000135.4(FANCA):c.1567-20A>G	rs775154397
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)	rs769047348
NM_000135.4(FANCA):c.1827-2A>G	rs2143393518
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)	rs2041095238
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)	rs17232973
NM_000135.4(FANCA):c.2602-2A>C	rs1555545592
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)	rs1017086086
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter)	rs1183559927
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)	rs1555545421
NM_000135.4(FANCA):c.2778+83C>G	rs750997715
NM_000135.4(FANCA):c.283+1G>A	rs1232171121
NM_000135.4(FANCA):c.2852+1dup
NM_000135.4(FANCA):c.306del (p.Ser103fs)
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)	rs2143139166
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)	rs1429943036
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del)	rs786204246
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)	rs1390620949
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)	rs587778319
NM_000135.4(FANCA):c.3828+1G>A	rs1432988639
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs)	rs2151714613
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)	rs940187828
NM_000135.4(FANCA):c.4260+1dup	rs1555532944
NM_000135.4(FANCA):c.709+5G>T	rs759877008
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)	rs2071939263
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)	rs1057516298
NM_000136.3(FANCC):c.346-1G>A	rs1484503633
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
NM_000137.4(FAH):c.122T>C (p.Leu41Pro)	rs2041114940
NM_000137.4(FAH):c.615dup (p.Val206fs)	rs1057517084
NM_000137.4(FAH):c.726G>A (p.Trp242Ter)	rs1567118987
NM_000137.4(FAH):c.72_81dup (p.Pro28fs)
NM_000137.4(FAH):c.745C>A (p.Pro249Thr)
NM_000137.4(FAH):c.879C>A (p.Tyr293Ter)
NM_000143.4(FH):c.1390+1G>T	rs886039367
NM_000152.5(GAA):c.1193del (p.Leu398fs)	rs1057517286
NM_000152.5(GAA):c.1377dup (p.Glu460fs)	rs2039192386
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)	rs2039212985
NM_000152.5(GAA):c.1555A>G (p.Met519Val)	rs1598581919
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)	rs1291214871
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)	rs747150965
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)	rs1057517105
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)	rs369531647
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)	rs1243515778
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)	rs1024137874
NM_000152.5(GAA):c.2040+2T>G
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)	rs2039287852
NM_000152.5(GAA):c.2095dup (p.Leu699fs)	rs2143895928
NM_000152.5(GAA):c.2167G>A (p.Val723Met)	rs767247397
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)	rs1057516327
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)	rs1567838823
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)	rs1479740763
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)	rs752921215
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)	rs1232001857
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)	rs750668627
NM_000152.5(GAA):c.692+2T>C	rs1555599171
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs)	rs2061563475
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter)	rs2143605190
NM_000154.2(GALK1):c.364del (p.Leu122fs)	rs2061596711
NM_000154.2(GALK1):c.410dup (p.Gly138fs)	rs767329054
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter)	rs767799179
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
NM_000154.2(GALK1):c.793+2T>G
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)	rs770087254
NM_000155.4(GALT):c.152G>T (p.Arg51Leu)	rs111033648
NM_000155.4(GALT):c.213dup (p.Asn72fs)
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)
NM_000155.4(GALT):c.292G>C (p.Asp98His)	rs111033670
NM_000155.4(GALT):c.368G>A (p.Arg123Gln)	rs111033675
NM_000155.4(GALT):c.428C>T (p.Ser143Leu)	rs111033697
NM_000155.4(GALT):c.513del (p.Phe171fs)	rs886044409
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser)	rs111033744
NM_000155.4(GALT):c.667C>A (p.Arg223Ser)	rs111033750
NM_000155.4(GALT):c.719_728del (p.Leu240fs)	rs111033838
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	rs886042070
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)	rs421016
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
NM_000158.4(GBE1):c.143+2T>C	rs2107250439
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)	rs1367364158
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter)	rs772802187
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter)	rs2107114808
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter)	rs773473771
NM_000158.4(GBE1):c.47del (p.Ala16fs)	rs2107250805
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter)	rs776943352
NM_000158.4(GBE1):c.691+5G>C	rs397515344
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)	rs754525424
NM_000158.4(GBE1):c.909_912del (p.Phe303fs)	rs2107059544
NM_000159.4(GCDH):c.1082+2T>C	rs2145954110
NM_000159.4(GCDH):c.1175A>G (p.Asn392Ser)	rs2145955095
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu)	rs933624223
NM_000159.4(GCDH):c.172G>T (p.Glu58Ter)	rs1006150317
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	rs566417795
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)	rs566417795
NM_000159.4(GCDH):c.329_332del (p.Ile110fs)	rs1555749434
NM_000159.4(GCDH):c.345_349del (p.Cys115fs)
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)	rs139851890
NM_000159.4(GCDH):c.442G>A (p.Val148Ile)
NM_000159.4(GCDH):c.464A>G (p.Tyr155Cys)
NM_000159.4(GCDH):c.655G>A (p.Ala219Thr)	rs1970675055
NM_000159.4(GCDH):c.683G>T (p.Cys228Phe)	rs1970675873
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)	rs964724051
NM_000159.4(GCDH):c.885C>A (p.Tyr295Ter)	rs139192015
NM_000159.4(GCDH):c.901G>A (p.Val301Met)
NM_000159.4(GCDH):c.91+5G>A	rs952356983
NM_000159.4(GCDH):c.932dup (p.Ala312fs)	rs1970695925
NM_000162.5(GCK):c.391T>C (p.Ser131Pro)	rs104894010
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
NM_000183.3(HADHB):c.1389+5G>A
NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)
NM_000183.3(HADHB):c.607C>T (p.Arg203Ter)
NM_000183.3(HADHB):c.811+82A>G
NM_000183.3(HADHB):c.881C>G (p.Pro294Arg)	rs1558357879
NM_000183.3(HADHB):c.962del (p.Met321fs)
NM_000191.3(HMGCL):c.286del (p.Gln96fs)	rs1184002840
NM_000191.3(HMGCL):c.349_361del
NM_000191.3(HMGCL):c.501C>A (p.Tyr167Ter)	rs200189529
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)	rs112508527
NM_000191.3(HMGCL):c.610del (p.Asp204fs)	rs2148419170
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs)
NM_000191.3(HMGCL):c.866del (p.Gly289fs)
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter)	rs1591031929
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)	rs773323079
NM_000195.5(HPS1):c.780dup (p.Arg261fs)	rs2136197089
NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs)	rs1567915763
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)	rs746037899
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter)	rs1567914459
NM_000199.5(SGSH):c.1380del (p.Leu461fs)	rs1555620092
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro)	rs779703983
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter)	rs2041818115
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter)	rs1598749661
NM_000199.5(SGSH):c.506+1G>A	rs763063355
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)
NM_000199.5(SGSH):c.691_698del (p.Ala231fs)
NM_000199.5(SGSH):c.693_705del (p.Ala232fs)	rs2041772144
NM_000199.5(SGSH):c.745+1G>C	rs748525651
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)	rs765361603
NM_000199.5(SGSH):c.909del (p.Lys303fs)	rs775136193
NM_000199.5(SGSH):c.949+1G>A
NM_000202.8(IDS):c.404A>G (p.Lys135Arg)	rs104894861
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)	rs779383393
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
NM_000231.3(SGCG):c.298-2A>G
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)	rs1881865054
NM_000231.3(SGCG):c.801_802del (p.Pro268fs)	rs2137534216
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
NM_000232.5(SGCB):c.102del (p.Glu35fs)	rs2109376007
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
NM_000232.5(SGCB):c.243+3_243+6del	rs1553940660
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)	rs104893871
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)	rs771814273
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)	rs63751715
NM_000249.4(MLH1):c.1409+1G>A	rs267607825
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs)	rs1553653084
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs)	rs1553662622
NM_000249.4(MLH1):c.1841_1842del (p.Phe614fs)
NM_000249.4(MLH1):c.1858del (p.Glu620fs)	rs786203456
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
NM_000249.4(MLH1):c.2187_2190dup (p.Pro731fs)
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)	rs63750453
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)	rs63751665
NM_000249.4(MLH1):c.366_369del (p.Lys123fs)
NM_000249.4(MLH1):c.393del (p.Asp132fs)	rs2081922847
NM_000249.4(MLH1):c.404_407del (p.Leu135fs)	rs587779014
NM_000249.4(MLH1):c.790+4A>G	rs267607786
NM_000249.4(MLH1):c.927dup (p.Thr310fs)	rs1553647995
NM_000249.4(MLH1):c.9_21del (p.Phe3fs)	rs1064795341
NM_000251.3(MSH2):c.1023del (p.Val342fs)	rs864622340
NM_000251.3(MSH2):c.1042del (p.Gln348fs)	rs1553353233
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter)	rs730881755
NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs)	rs1553361231
NM_000251.3(MSH2):c.1401del (p.Glu467fs)	rs1553365711
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter)	rs63750330
NM_000251.3(MSH2):c.1613dup (p.Asn538fs)
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)	rs587782659
NM_000251.3(MSH2):c.2342del (p.Ala781fs)
NM_000251.3(MSH2):c.2365del (p.Ala789fs)
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)	rs202145681
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)	rs1060501989
NM_000251.3(MSH2):c.448_449del (p.Gly149_Val150insTer)
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)	rs864622183
NM_000251.3(MSH2):c.870_874del (p.Glu290fs)	rs1114167848
NM_000251.3(MSH2):c.942+3A>C	rs193922376
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)	rs730880674
NM_000274.4(OAT):c.152G>A (p.Gly51Asp)
NM_000274.4(OAT):c.182_189del (p.Ala61fs)
NM_000274.4(OAT):c.198del (p.Gly67fs)	rs1432416419
NM_000274.4(OAT):c.461G>T (p.Arg154Leu)	rs121965039
NM_000274.4(OAT):c.515_516del (p.Phe172fs)	rs2134476898
NM_000274.4(OAT):c.780del (p.Phe260fs)	rs2134456707
NM_000274.4(OAT):c.824G>A (p.Trp275Ter)	rs267606924
NM_000274.4(OAT):c.896dup (p.Tyr299Ter)	rs2134456170
NM_000274.4(OAT):c.966del (p.Tyr323fs)	rs1951417940
NM_000274.4(OAT):c.97dup (p.Thr33fs)	rs1375779674
NM_000275.3(OCA2):c.1349C>A (p.Thr450Lys)
NM_000275.3(OCA2):c.163dup (p.Ala55fs)
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs)
NM_000275.3(OCA2):c.2338+2T>G	rs1064796956
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)
NM_000275.3(OCA2):c.74_78del (p.Pro25fs)	rs747408689
NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys)	rs62508686
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)	rs1592947508
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)	rs794727086
NM_000277.3(PAH):c.155T>C (p.Leu52Ser)	rs199475630
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)	rs62517167
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)	rs398123292
NM_000277.3(PAH):c.357del (p.Trp120fs)	rs794727619
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr)	rs199475606
NM_000277.3(PAH):c.441+6T>A	rs199475698
NM_000277.3(PAH):c.462C>A (p.Tyr154Ter)	rs1191473722
NM_000277.3(PAH):c.510T>A (p.His170Gln)	rs199475652
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)	rs74486803
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)	rs74486803
NM_000277.3(PAH):c.561G>C (p.Trp187Cys)	rs62507336
NM_000277.3(PAH):c.563G>A (p.Gly188Asp)	rs199475689
NM_000277.3(PAH):c.601C>T (p.His201Tyr)	rs62517205
NM_000277.3(PAH):c.610dup (p.Tyr204fs)	rs1555204711
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)	rs281865443
NM_000277.3(PAH):c.635T>C (p.Leu212Pro)	rs62517198
NM_000277.3(PAH):c.707-12_711del	rs1555204492
NM_000277.3(PAH):c.722G>T (p.Arg241Leu)	rs62508730
NM_000277.3(PAH):c.754C>G (p.Arg252Gly)	rs5030847
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)	rs62508692
NM_000277.3(PAH):c.827T>C (p.Met276Thr)
NM_000277.3(PAH):c.827T>G (p.Met276Arg)	rs62508722
NM_000277.3(PAH):c.845A>G (p.Asp282Gly)	rs199475660
NM_000277.3(PAH):c.992T>C (p.Phe331Ser)	rs199475614
NM_000277.3(PAH):c.992T>G (p.Phe331Cys)	rs199475614
NM_000282.4(PCCA):c.1353+5_1353+9del	rs764045674
NM_000282.4(PCCA):c.1847_1848del
NM_000282.4(PCCA):c.1899+4_1899+7del	rs794727334
NM_000282.4(PCCA):c.2119-2A>G	rs867315913
NM_000282.4(PCCA):c.284del (p.Asp95fs)	rs775825345
NM_000282.4(PCCA):c.39del (p.Ala14fs)	rs1593996563
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)	rs202247814
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)	rs796052019
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)	rs121964957
NM_000282.4(PCCA):c.866_867del (p.Glu289fs)	rs760976198
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
NM_000286.3(PEX12):c.223_224del (p.Leu75fs)	rs1555549876
NM_000286.3(PEX12):c.511del (p.Glu171fs)	rs945104524
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer)	rs1238451790
NM_000286.3(PEX12):c.808del (p.Gln270fs)
NM_000286.3(PEX12):c.910_911del (p.Cys304fs)	rs867245161
NM_000286.3(PEX12):c.920_921del (p.Cys307fs)	rs2142228928
NM_000286.3(PEX12):c.961_964del (p.Gly321fs)	rs749650201
NM_000286.3(PEX12):c.969_970del (p.Phe324fs)	rs2072781707
NM_000286.3(PEX12):c.987_988del (p.Phe330fs)	rs764657253
NM_000287.4(PEX6):c.1027del (p.Arg343fs)	rs1388178333
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter)	rs886044436
NM_000287.4(PEX6):c.2406del (p.Phe802fs)	rs1554126965
NM_000287.4(PEX6):c.659G>T (p.Gly220Val)	rs267608203
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)	rs763514968
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter)	rs1173171051
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)	rs1064795749
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)	rs121918193
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)	rs866260025
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs)	rs1233958453
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)	rs866904446
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs)	rs864622043
NM_000295.5(SERPINA1):c.475A>T (p.Lys159Ter)
NM_000295.5(SERPINA1):c.480del (p.Lys160fs)
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)	rs199422210
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs)	rs921982028
NM_000295.5(SERPINA1):c.647del	rs1555368758
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs)	rs1555368557
NM_000303.3(PMM2):c.16_22del (p.Pro6fs)	rs2141014102
NM_000303.3(PMM2):c.190del (p.Tyr64fs)	rs1339004837
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
NM_000303.3(PMM2):c.414del (p.Glu139fs)	rs755008774
NM_000303.3(PMM2):c.488_491del (p.Lys163fs)	rs2060678732
NM_000303.3(PMM2):c.55del (p.Ala19fs)	rs1596481889
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter)	rs201855351
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter)	rs201440361
NM_000303.3(PMM2):c.584_585del (p.His195fs)
NM_000303.3(PMM2):c.639+1G>A	rs1057517183
NM_000303.3(PMM2):c.640-23A>G	rs981372486
NM_000303.3(PMM2):c.66+1del	rs1555495965
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
NM_000303.3(PMM2):c.67-1G>C
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)	rs763091085
NM_000303.3(PMM2):c.72del (p.Thr25fs)	rs2060617981
NM_000310.4(PPT1):c.29_41del (p.Leu10fs)	rs762226836
NM_000310.4(PPT1):c.629_630dup (p.Ile211fs)	rs1302326945
NM_000310.4(PPT1):c.653dup (p.Asn218fs)	rs1057516889
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu)	rs878853322
NM_000310.4(PPT1):c.798+1G>T	rs878853929
NM_000317.3(PTS):c.-24_9del	rs2135407114
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)	rs1449216377
NM_000317.3(PTS):c.174_175del (p.Val59fs)	rs2135408968
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)	rs779681799
NM_000317.3(PTS):c.407A>T (p.Asp136Val)	rs1859972447
NM_000317.3(PTS):c.74G>A (p.Arg25Gln)	rs104894273
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
NM_000318.3(PEX2):c.218del (p.Asn73fs)	rs1586070089
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter)	rs1586070043
NM_000318.3(PEX2):c.310dup (p.Ile104fs)	rs1235008965
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
NM_000318.3(PEX2):c.325dup (p.Cys109fs)	rs1052655986
NM_000318.3(PEX2):c.34_37del (p.Asn12fs)	rs1174648906
NM_000318.3(PEX2):c.354_355del (p.Arg119fs)	rs1554584505
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)
NM_000321.3(RB1):c.54_76dup (p.Pro26fs)	rs1555279210
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	rs62636300
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)	rs1193631220
NM_000329.3(RPE65):c.246-11A>G	rs905365719
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)	rs281865289
NM_000329.3(RPE65):c.93A>G (p.Thr31=)	rs2100834154
NM_000346.4(SOX9):c.508C>G (p.Pro170Ala)	rs866706988
NM_000353.3(TAT):c.1224G>T (p.Thr408=)
NM_000353.3(TAT):c.226dup (p.Leu76fs)	rs746077579
NM_000353.3(TAT):c.707-2A>G	rs1005382525
NM_000353.3(TAT):c.814del (p.Ile272fs)	rs2044197900
NM_000353.3(TAT):c.825del (p.Cys275fs)	rs2145231253
NM_000360.4(TH):c.1035_1045del (p.Gln346fs)	rs1590166832
NM_000360.4(TH):c.1125del (p.Glu375fs)	rs2133690407
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)	rs575326605
NM_000360.4(TH):c.628G>A (p.Ala210Thr)	rs1260455415
NM_000360.4(TH):c.789_795dup (p.Glu266fs)
NM_000360.4(TH):c.917G>A (p.Arg306His)	rs28934580
NM_000360.4(TH):c.934C>T (p.Gln312Ter)
NM_000368.5(TSC1):c.2208+2T>A	rs1064794132
NM_000370.3(TTPA):c.19del (p.Gln7fs)	rs760014795
NM_000372.5(TYR):c.178_179del (p.Leu60fs)
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr)	rs137854890
NM_000372.5(TYR):c.607G>T (p.Glu203Ter)
NM_000380.4(XPA):c.323G>T (p.Cys108Phe)	rs104894131
NM_000380.4(XPA):c.772_785del (p.Arg258fs)	rs778543124
NM_000387.6(SLC25A20):c.125del (p.Pro42fs)
NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp)	rs748394731
NM_000387.6(SLC25A20):c.542del (p.Pro181fs)
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys)	rs747335514
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)	rs137852341
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)	rs1554068136
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)	rs121913571
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser)	rs121434487
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)	rs201660407
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)	rs111033306
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)	rs768471577
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)	rs2129318281
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)	rs397516427
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu)	rs2129309208
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)	rs1219724284
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)	rs111033199
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys)	rs1808782267
NM_000454.5(SOD1):c.230A>T (p.Asp77Val)	rs1568810316
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter)	rs786202559
NM_000465.4(BARD1):c.1069dup (p.Ile357fs)	rs2106108903
NM_000465.4(BARD1):c.1227_1231del (p.Ser410fs)	rs1553622160
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer)	rs1553622145
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
NM_000465.4(BARD1):c.1345del (p.Gln449fs)	rs2106081379
NM_000465.4(BARD1):c.1348_1349delinsCAT (p.Asn450fs)	rs1553619713
NM_000465.4(BARD1):c.1349dup (p.Asn450fs)	rs876660390
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter)	rs1553619349
NM_000465.4(BARD1):c.159-1G>T	rs879254139
NM_000465.4(BARD1):c.1658C>G (p.Ser553Ter)
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs)	rs753537518
NM_000465.4(BARD1):c.1735dup (p.Ser579fs)
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)
NM_000465.4(BARD1):c.1872del (p.Leu625fs)	rs876659572
NM_000465.4(BARD1):c.1935_1954del (p.Cys645_Glu652delinsTer)	rs587780024
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter)	rs1328046615
NM_000465.4(BARD1):c.2024del (p.Cys675fs)	rs2105987971
NM_000465.4(BARD1):c.2063dup (p.Asp689fs)	rs1064796026
NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr)	rs1064793959
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter)	rs1259296823
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)	rs750413473
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter)	rs1559437094
NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)
NM_000465.4(BARD1):c.46_68dup (p.Ala25fs)	rs1553628445
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)	rs752514155
NM_000465.4(BARD1):c.580_581del (p.Arg194fs)
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter)	rs762171436
NM_000465.4(BARD1):c.653G>A (p.Trp218Ter)	rs1553622534
NM_000465.4(BARD1):c.716del (p.Leu239fs)	rs2106110871
NM_000465.4(BARD1):c.838_839del (p.Leu280fs)	rs876659752
NM_000465.4(BARD1):c.862_863insGG (p.Ser288fs)
NM_000465.4(BARD1):c.873dup (p.Lys292Ter)	rs1553622378
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)	rs370483961
NM_000466.3(PEX1):c.3115del (p.Thr1039fs)	rs1562846257
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)	rs886043558
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)	rs1057517467
NM_000478.6(ALPL):c.1077C>G (p.Ile359Met)	rs567349821
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val)	rs768053120
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro)	rs121918003
NM_000478.6(ALPL):c.500C>T (p.Thr167Met)	rs1408325840
NM_000481.4(AMT):c.1056del (p.Ser353fs)	rs2049022161
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)	rs1167886830
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer)	rs1483890972
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)	rs104894062
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)	rs753774484
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)	rs2145262260
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)	rs2024251717
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs)	rs1057517408
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)	rs1599350640
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)	rs1599344532
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)	rs2024217737
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)	rs767323371
NM_000528.4(MAN2B1):c.426del (p.Val143fs)	rs2024205685
NM_000528.4(MAN2B1):c.437-1dup	rs1160557969
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)	rs72558452
NM_000531.6(OTC):c.903A>T (p.Leu301Phe)	rs72558462
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)	rs1553784921
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)	rs1292452485
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
NM_000532.5(PCCB):c.183+5G>A	rs879253813
NM_000532.5(PCCB):c.187_203del	rs2108137253
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs)	rs2108146615
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)	rs1553774884
NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
NM_000532.5(PCCB):c.638del (p.Phe213fs)	rs1196443543
NM_000532.5(PCCB):c.655-2A>G	rs1553778865
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs)	rs1583334346
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)	rs863224498
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)	rs63750456
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)	rs1064793426
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs)	rs756358866
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)	rs1554297125
NM_000535.7(PMS2):c.1938del (p.Lys647fs)	rs2128720948
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)	rs876659900
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs)	rs2128672594
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)	rs1785199575
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)	rs1221485925
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs)	rs1784802468
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)	rs587782710
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)	rs1064794905
NM_000535.7(PMS2):c.79del (p.Cys27fs)
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn)	rs121918574
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)	rs794728696
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln)	rs199915216
NM_000543.5(SMPD1):c.505dup (p.His169fs)	rs781535659
NM_000548.5(TSC2):c.1257+2T>C	rs45509697
NM_000553.6(WRN):c.1012_1018del (p.Val338fs)	rs2130118911
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs)	rs1563338855
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)
NM_000553.6(WRN):c.15del (p.Lys5fs)	rs878854133
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer)	rs1585440064
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter)	rs757808169
NM_000553.6(WRN):c.1754del (p.Pro585fs)
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter)	rs1585449207
NM_000553.6(WRN):c.229dup (p.Asp77fs)	rs747587698
NM_000553.6(WRN):c.2503del (p.Gln835fs)	rs748484883
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter)	rs2130322576
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs)	rs1802222407
NM_000553.6(WRN):c.3244del (p.Val1082fs)	rs745905108
NM_000553.6(WRN):c.3382dup (p.Ser1128fs)	rs778872619
NM_000553.6(WRN):c.3408dup (p.Ala1137fs)	rs1284409960
NM_000553.6(WRN):c.3726del (p.Lys1243fs)	rs2130469991
NM_000553.6(WRN):c.3972del (p.Val1325fs)
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)
NM_000553.6(WRN):c.464T>A (p.Leu155Ter)
NM_000553.6(WRN):c.561A>G (p.Lys187=)	rs775802030
NM_000553.6(WRN):c.944T>G (p.Leu315Ter)	rs1813280584
NM_000642.3(AGL):c.1041dup (p.Val348fs)	rs2101126325
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter)	rs2101128697
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs)	rs1651876879
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)	rs777871903
NM_000642.3(AGL):c.1942dup (p.Ser648fs)	rs2100758555
NM_000642.3(AGL):c.2036del (p.Lys679fs)	rs2100759432
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)	rs767346840
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)	rs1553187237
NM_000642.3(AGL):c.2538dup (p.Ile847fs)	rs1057516984
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)	rs767529587
NM_000642.3(AGL):c.2905dup (p.Tyr969fs)	rs1652879873
NM_000642.3(AGL):c.293+1G>T
NM_000642.3(AGL):c.294-2A>T	rs1057516868
NM_000642.3(AGL):c.3011del (p.Pro1004fs)	rs1057516306
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
NM_000642.3(AGL):c.3362+2T>C	rs2100804114
NM_000642.3(AGL):c.3589-3C>G	rs1653935585
NM_000642.3(AGL):c.3630del (p.Lys1210fs)	rs1653938652
NM_000642.3(AGL):c.3662del (p.Asn1221fs)
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs)	rs762545015
NM_000642.3(AGL):c.4100del (p.Gly1367fs)	rs777120567
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
NM_000642.3(AGL):c.471del (p.Met157fs)
NM_000642.3(AGL):c.535_538del (p.Leu179fs)	rs794727706
NM_000642.3(AGL):c.861_864del (p.Ile288fs)	rs1571243699
NM_000642.3(AGL):c.947_948del (p.Leu316fs)	rs1650934988
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)	rs757987101
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)	rs1330793674
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)	rs765543886
NM_000709.4(BCKDHA):c.116_117dup (p.Arg40fs)	rs398123489
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)	rs1298823471
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)	rs398123494
NM_000709.4(BCKDHA):c.410_426dup (p.Gly143fs)
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)
NM_000709.4(BCKDHA):c.663del (p.Ala220_Tyr221insTer)	rs2122142757
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)	rs1303770209
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp)	rs373713279
NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)	rs761996996
NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)	rs1575206357
NM_000784.4(CYP27A1):c.1017+1del	rs1559392904
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs)	rs1575206688
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)	rs121908096
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)	rs587778781
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)	rs758739930
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)	rs755532803
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
NM_000784.4(CYP27A1):c.845-1G>C
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)
NM_000925.4(PDHB):c.716_717del (p.Val239fs)
NM_001005242.3(PKP2):c.1379-2047_1379-2043del	rs775995156
NM_001037.5(SCN1B):c.449-2A>G	rs1600370558
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)	rs113994143
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)	rs768514713
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
NM_001040716.2(PC):c.52C>T (p.Arg18Ter)	rs144583275
NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly)	rs876658853
NM_001044385.3(TMEM237):c.869+1G>A	rs730882231
NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs)	rs863224501
NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter)	rs1060501321
NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs)	rs1553125677
NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter)	rs1060501325
NM_001048174.2(MUTYH):c.1237del (p.Glu413fs)	rs1064795480
NM_001048174.2(MUTYH):c.249dup (p.Pro84fs)	rs878854189
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
NM_001048174.2(MUTYH):c.309_322dup (p.Met108fs)	rs1553129652
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter)	rs876660787
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer)	rs1553129062
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)	rs1057517457
NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs)	rs1645561773
NM_001048174.2(MUTYH):c.91C>T (p.Gln31Ter)
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter)	rs1060501324
NM_001048174.2(MUTYH):c.994del (p.Arg332fs)	rs1057517456
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg)	rs1064795334
NM_001098.3(ACO2):c.1819C>T (p.Arg607Cys)	rs864309499
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser)	rs1064794652
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu)	rs387906589
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)	rs1602260263
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)	rs758062617
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter)	rs1359408831
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)	rs770318990
NM_001122769.3(LCA5):c.858+1G>C	rs753594556
NM_001127178.3(PIGG):c.342dup (p.Thr115fs)	rs886041687
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	rs794727411
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)	rs28940308
NM_001128425.2(MUTYH):c.200del (p.Gly67fs)	rs746449748
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)	rs1064795596
NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter)	rs767402084
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln)	rs387907348
NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys)	rs1564664312
NM_001142800.2(EYS):c.1328dup (p.Asn443fs)	rs1582176424
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)	rs750840208
NM_001142800.2(EYS):c.4610_4611del (p.Arg1537fs)	rs886042613
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs)	rs1455826633
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs)	rs2149802267
NM_001142800.2(EYS):c.8830del (p.Val2944fs)	rs776526721
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs)	rs1166245419
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg)	rs121434308
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
NM_001164277.2(SLC37A4):c.1124+3_1124+6del	rs782612223
NM_001164277.2(SLC37A4):c.148+2T>C	rs1449998297
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs)	rs1943676862
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)	rs121908977
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)	rs1447366650
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs)	rs2134631242
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs)	rs1001301633
NM_001164508.2(NEB):c.3567+1G>A	rs587780399
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu)	rs794726718
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala)	rs779184118
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter)	rs1555314211
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)	rs201108965
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)	rs369638371
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr)	rs1057518074
NM_001243279.3(ACSF3):c.1003del (p.Leu335fs)	rs2151453936
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter)	rs1131691498
NM_001243279.3(ACSF3):c.1110del (p.Ala371fs)	rs2151454690
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)	rs775794698
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)	rs764608253
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)	rs2151521127
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)	rs751342087
NM_001243279.3(ACSF3):c.1546dup (p.Val516fs)
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)	rs745684193
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)	rs779820462
NM_001243279.3(ACSF3):c.1609del (p.Ala537fs)	rs1912887899
NM_001243279.3(ACSF3):c.16del (p.Val6fs)	rs1338859307
NM_001243279.3(ACSF3):c.261del (p.Cys88fs)	rs775569136
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)	rs1313088429
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)	rs1432097143
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)	rs1975494455
NM_001243279.3(ACSF3):c.803del (p.Pro268fs)	rs767946490
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)	rs2151444797
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His)	rs797045050
NM_001244710.2(GFPT1):c.*22C>A	rs199678034
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln)	rs1567149946
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His)	rs867543866
NM_001283009.2(RTEL1):c.2141+5G>A	rs398123050
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln)	rs878853045
NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile)	rs1602510214
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs)	rs1555955290
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)	rs148324626
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)	rs1342457304
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)	rs1555930523
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)	rs2065031709
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
NM_001352514.2(HLCS):c.863del (p.Ser288fs)	rs1015594025
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
NM_001354604.2(MITF):c.1230G>A (p.Thr410=)	rs1057521096
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met)	rs1064795387
NM_001358530.2(MOCS1):c.1150+1G>T	rs2149398895
NM_001358530.2(MOCS1):c.291del (p.Ala99fs)	rs755808099
NM_001358530.2(MOCS1):c.306_309dup (p.Thr104fs)
NM_001358530.2(MOCS1):c.664C>T (p.Arg222Ter)
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter)	rs1591107421
NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter)	rs140791666
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)	rs781687341
NM_001360.3(DHCR7):c.808A>G (p.Met270Val)	rs1555146021
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)	rs386134249
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)	rs778670301
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)	rs386134259
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)	rs397514408
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)	rs181396238
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)	rs1559600871
NM_001370658.1(BTD):c.1399del (p.Trp467fs)	rs397514423
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
NM_001370658.1(BTD):c.1419del (p.Tyr474fs)	rs1559600938
NM_001370658.1(BTD):c.399G>A (p.Glu133=)	rs397514360
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)	rs750363004
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)	rs397514376
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)	rs397514380
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)	rs397514389
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)	rs1157567876
NM_001370658.1(BTD):c.932_941del (p.His311fs)	rs773137513
NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter)	rs775370485
NM_001378418.1(TCF20):c.2568dup (p.Gly857fs)
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)	rs137853003
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile)	rs953108559
NM_001567.4(INPPL1):c.2213-2A>C	rs1948918434
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)	rs1568060200
NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys)	rs778740017
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)	rs1288123680
NM_001876.4(CPT1A):c.1163+2T>C	rs1555229059
NM_001876.4(CPT1A):c.1328dup (p.Leu444fs)	rs2153997913
NM_001876.4(CPT1A):c.1879G>T (p.Glu627Ter)
NM_001876.4(CPT1A):c.2018_2022del (p.Pro672_Phe673insTer)	rs1163935346
NM_001918.5(DBT):c.143_146dup (p.His49fs)	rs1384034981
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)	rs1217050849
NM_001918.5(DBT):c.29G>A (p.Trp10Ter)	rs572340170
NM_001918.5(DBT):c.457del (p.Thr153fs)
NM_001918.5(DBT):c.828del (p.Phe276fs)
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs)	rs1261674855
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del)	rs786205098
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del)	rs1027855768
NM_001953.5(TYMP):c.1301-1G>A	rs773785934
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)	rs1064792872
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter)	rs187424345
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
NM_001985.3(ETFB):c.61del (p.Arg21fs)
NM_002016.2(FLG):c.7945del (p.Ser2649fs)	rs538406713
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)	rs398123679
NM_002225.5(IVD):c.109G>A (p.Asp37Asn)	rs2141289961
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)	rs34695403
NM_002225.5(IVD):c.599del (p.Pro200fs)	rs1566936542
NM_002225.5(IVD):c.618del (p.Ile206fs)	rs781630355
NM_002225.5(IVD):c.960G>T (p.Gln320His)	rs367814475
NM_002435.3(MPI):c.1022dup (p.Val342fs)	rs765310894
NM_002435.3(MPI):c.1087del (p.Ala363fs)	rs2141209567
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter)	rs1661886822
NM_002435.3(MPI):c.413T>C (p.Met138Thr)	rs104894495
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
NM_002435.3(MPI):c.713del (p.Leu238fs)	rs745432667
NM_002435.3(MPI):c.84_88del (p.Arg29fs)	rs753839890
NM_002435.3(MPI):c.880dup (p.Val294fs)	rs1555479351
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)	rs864622143
NM_002485.5(NBN):c.584+2T>C	rs1586101154
NM_002528.7(NTHL1):c.164_165del (p.Arg55fs)	rs1290880136
NM_002528.7(NTHL1):c.199A>T (p.Lys67Ter)
NM_002528.7(NTHL1):c.203del (p.Gly68fs)	rs1555492819
NM_002528.7(NTHL1):c.232del (p.Val78fs)	rs1314290585
NM_002528.7(NTHL1):c.350del (p.Pro117fs)	rs763525759
NM_002528.7(NTHL1):c.350dup (p.Val119fs)	rs763525759
NM_002528.7(NTHL1):c.391_392del (p.Ser131fs)	rs1596220478
NM_002528.7(NTHL1):c.625_626del (p.Val209fs)	rs2150941243
NM_002617.4(PEX10):c.157_158del (p.Ser53fs)	rs1384671249
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter)	rs531987102
NM_002617.4(PEX10):c.295del (p.His99fs)	rs1557910651
NM_002617.4(PEX10):c.338del (p.Leu113fs)	rs878853044
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs)	rs2100429011
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
NM_002617.4(PEX10):c.551del (p.Ile184fs)	rs1557910202
NM_002617.4(PEX10):c.601-38_601-37del	rs1553231896
NM_002617.4(PEX10):c.703C>T (p.Gln235Ter)	rs1295555837
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
NM_002617.4(PEX10):c.755_756del (p.His252fs)	rs1325771720
NM_002617.4(PEX10):c.8del (p.Pro3fs)
NM_002617.4(PEX10):c.912+1G>C	rs1553231739
NM_002693.3(POLG):c.172C>T (p.Gln58Ter)	rs2055625602
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr)	rs1003442806
NM_002693.3(POLG):c.2395del (p.Ser799fs)	rs796052919
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln)	rs1356604153
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)	rs121918051
NM_002693.3(POLG):c.2884dup (p.Ala962fs)	rs1252078081
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)	rs121918049
NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer)	rs1064793800
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)
NM_002693.3(POLG):c.824G>A (p.Arg275Gln)	rs1555453950
NM_002693.3(POLG):c.830A>T (p.His277Leu)	rs138929605
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)	rs397507509
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter)	rs786202434
NM_002878.4(RAD51D):c.463C>T (p.Gln155Ter)	rs1555568293
NM_002878.4(RAD51D):c.576+1G>T	rs781161543
NM_002878.4(RAD51D):c.671T>A (p.Leu224Ter)	rs1567726305
NM_002878.4(RAD51D):c.694_697dup (p.Glu233fs)	rs2142418516
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln)	rs794726859
NM_003060.4(SLC22A5):c.1084del (p.Ser362fs)	rs1580892239
NM_003060.4(SLC22A5):c.1158del (p.Tyr387fs)	rs1580892402
NM_003060.4(SLC22A5):c.1240del (p.Leu414fs)	rs2126789878
NM_003060.4(SLC22A5):c.1298T>C (p.Met433Thr)	rs779385095
NM_003060.4(SLC22A5):c.1347del (p.Val448_Tyr449insTer)
NM_003060.4(SLC22A5):c.1350del (p.Ala451fs)	rs2126791456
NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu)	rs72552735
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs)	rs1057516797
NM_003060.4(SLC22A5):c.42G>A (p.Trp14Ter)	rs796052036
NM_003060.4(SLC22A5):c.497+1G>A
NM_003060.4(SLC22A5):c.52del (p.Gln18fs)	rs1022453298
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu)	rs1437174685
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)	rs72552723
NM_003060.4(SLC22A5):c.740C>G (p.Pro247Arg)	rs2126783802
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)	rs201262157
NM_003060.4(SLC22A5):c.844dup (p.Arg282fs)	rs386134209
NM_003072.5(SMARCA4):c.1408C>T (p.Gln470Ter)	rs1555757738
NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter)	rs1568419675
NM_003079.5(SMARCE1):c.92del (p.Tyr31fs)	rs2144009190
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter)	rs780122780
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr)	rs1057519448
NM_003659.4(AGPS):c.1256G>A (p.Arg419His)	rs121434411
NM_003659.4(AGPS):c.926C>T (p.Thr309Ile)	rs121434412
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
NM_003709.4(KLF7):c.410C>T (p.Thr137Met)	rs1276619385
NM_003718.5(CDK13):c.484dup (p.Ala162fs)	rs1405252481
NM_003721.4(RFXANK):c.713-1G>A	rs2060720733
NM_003748.4(ALDH4A1):c.866+1G>A	rs78532707
NM_003764.4(STX11):c.391C>T (p.Gln131Ter)	rs794729649
NM_003764.4(STX11):c.484C>T (p.Gln162Ter)
NM_003764.4(STX11):c.645dup (p.Arg216fs)
NM_003764.4(STX11):c.83C>A (p.Ser28Ter)	rs143547259
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro)	rs1064794321
NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs)	rs2139383552
NM_003982.4(SLC7A7):c.516del (p.Asn173fs)	rs2038690553
NM_003982.4(SLC7A7):c.539del (p.Gly180fs)	rs1414333836
NM_003982.4(SLC7A7):c.573del (p.Val192fs)
NM_003982.4(SLC7A7):c.625+1G>T	rs386833822
NM_003982.4(SLC7A7):c.70del (p.Ala24fs)
NM_003982.4(SLC7A7):c.725G>A (p.Trp242Ter)	rs2038664064
NM_003982.4(SLC7A7):c.766G>T (p.Glu256Ter)	rs2139394686
NM_003982.4(SLC7A7):c.930G>A (p.Trp310Ter)	rs2038594225
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)	rs1057518697
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)	rs397507484
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)	rs796052093
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)	rs797045037
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)	rs770873593
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter)	rs1554108431
NM_004453.4(ETFDH):c.1011del (p.Phe337fs)	rs757063739
NM_004453.4(ETFDH):c.1134del (p.Pro380fs)	rs1369800014
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs)	rs2126309189
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs)	rs1774630121
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs)	rs771393519
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val)	rs1580396712
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)	rs749085653
NM_004453.4(ETFDH):c.34+5G>C	rs1373597092
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter)	rs2150305273
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter)	rs878853082
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer)	rs2150304339
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs)	rs2150306625
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
NM_004453.4(ETFDH):c.972+1del
NM_004553.6(NDUFS6):c.344G>A (p.Cys115Tyr)	rs267606913
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs)	rs1559369237
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)	rs1384748892
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter)	rs1829041127
NM_004629.2(FANCG):c.1771dup (p.Leu591fs)	rs746392434
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro)	rs1829130135
NM_004629.2(FANCG):c.552dup (p.Ser185fs)	rs1412207017
NM_004629.2(FANCG):c.619del (p.Leu207fs)
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro)	rs1563986439
NM_004656.4(BAP1):c.1869del (p.Ser623fs)
NM_004656.4(BAP1):c.2012del (p.Tyr671fs)
NM_004656.4(BAP1):c.592del (p.Glu198fs)	rs1205668341
NM_004656.4(BAP1):c.793_817dup (p.Thr273fs)
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)	rs1555889162
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)	rs1379395211
NM_005138.3(SCO2):c.227_230del (p.Leu76fs)
NM_005157.6(ABL1):c.689C>T (p.Pro230Leu)	rs1831097846
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser)	rs387906666
NM_005188.4(CBL):c.1228-2A>G	rs727504426
NM_005591.4(MRE11):c.1100_1131del (p.Val367fs)	rs1946499901
NM_005591.4(MRE11):c.1127del (p.Phe376fs)
NM_005591.4(MRE11):c.1143del (p.Phe381fs)	rs863224508
NM_005591.4(MRE11):c.1441del (p.Thr481fs)	rs747832587
NM_005591.4(MRE11):c.1458_1461del (p.Lys486fs)
NM_005591.4(MRE11):c.1532dup (p.Asn511fs)
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs)	rs876660186
NM_005591.4(MRE11):c.1888C>T (p.Gln630Ter)	rs2134840569
NM_005591.4(MRE11):c.229G>T (p.Glu77Ter)	rs779269083
NM_005591.4(MRE11):c.504_511del (p.Leu169fs)	rs786202253
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter)	rs1157413766
NM_005591.4(MRE11):c.784del (p.Tyr262fs)
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)	rs2058377004
NM_005609.4(PYGM):c.125del (p.Lys42fs)
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs)	rs2058372554
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)
NM_005609.4(PYGM):c.1466dup (p.Arg490fs)	rs886041476
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)	rs752848974
NM_005609.4(PYGM):c.2259dup (p.Lys754fs)	rs1565531453
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)	rs1565531128
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT	rs2135823216
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs)	rs1057516329
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)	rs780246932
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)	rs367990192
NM_005609.4(PYGM):c.501dup (p.Asn168Ter)	rs1555136390
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del)	rs764823441
NM_005609.4(PYGM):c.658_659del (p.Gln220fs)	rs766199191
NM_005609.4(PYGM):c.682del (p.Asp228fs)	rs2058388882
NM_005677.4(COLQ):c.1129del (p.Asp377fs)	rs1559511788
NM_005677.4(COLQ):c.1225dup (p.His409fs)	rs1559510978
NM_005677.4(COLQ):c.175C>T (p.Pro59Ser)
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter)	rs143766249
NM_005677.4(COLQ):c.54_57del (p.Ile20fs)	rs771879602
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs)	rs764968413
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer)	rs786201789
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter)	rs1060501936
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs)	rs587781930
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)	rs1376334317
NM_005908.4(MANBA):c.177+2T>C	rs779221957
NM_005909.5(MAP1B):c.2995C>T (p.Arg999Ter)
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter)	rs776969786
NM_006016.6(CD164):c.574C>T (p.Arg192Ter)	rs876661402
NM_006019.4(TCIRG1):c.242del (p.Pro81fs)	rs1208311085
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs)	rs1565156743
NM_006087.4(TUBB4A):c.1164G>C (p.Met388Ile)	rs797045074
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)	rs1762136390
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter)	rs1556886124
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)	rs587784422
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro)	rs1761021165
NM_006949.4(STXBP2):c.1138G>T (p.Glu380Ter)
NM_006949.4(STXBP2):c.1525C>T (p.Gln509Ter)	rs760061071
NM_006949.4(STXBP2):c.80del (p.Glu27fs)
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs)	rs2145817185
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)	rs2052563898
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)	rs1555913672
NM_007194.4(CHEK2):c.1259+1G>C	rs121908707
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)	rs1569112324
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter)	rs771772104
NM_007194.4(CHEK2):c.1452del (p.Trp485fs)	rs2145784297
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter)	rs1601715852
NM_007194.4(CHEK2):c.1462-2A>G	rs587782575
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)	rs757016287
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)	rs587782707
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)	rs587782489
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)	rs768384031
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)	rs1349961118
NM_007194.4(CHEK2):c.432del (p.Arg145fs)	rs1555927148
NM_007194.4(CHEK2):c.444+2T>C	rs560596101
NM_007194.4(CHEK2):c.449del (p.Val150fs)	rs1601824270
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)	rs886039609
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)	rs1346554630
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter)	rs1569149953
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)	rs1601784008
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer)	rs1392940377
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)	rs786201896
NM_007194.4(CHEK2):c.823del (p.Glu275fs)	rs769430546
NM_007194.4(CHEK2):c.846+4_846+7del	rs764884641
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)	rs886039739
NM_007194.4(CHEK2):c.906del (p.Glu302fs)	rs2052974883
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs)	rs786203053
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr)	rs1060502353
NM_007294.4(BRCA1):c.139dup (p.Cys47fs)	rs80357734
NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs)	rs876659139
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg)	rs28897672
NM_007294.4(BRCA1):c.1923dup (p.Asp642Ter)	rs878854935
NM_007294.4(BRCA1):c.1978del (p.Val660fs)	rs886039988
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs)	rs431825390
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)	rs886040027
NM_007294.4(BRCA1):c.2912_2913del (p.His971fs)	rs878854940
NM_007294.4(BRCA1):c.3853del (p.Ser1286fs)	rs397507222
NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter)	rs879255485
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs)	rs786204267
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)	rs80358343
NM_007294.4(BRCA1):c.5054_5057dup (p.Val1687fs)	rs879254050
NM_007294.4(BRCA1):c.5074+3A>G	rs80358181
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del)	rs80358345
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)	rs80356993
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)	rs80357104
NM_007294.4(BRCA1):c.5302del (p.Cys1768fs)	rs886040289
NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs)	rs587781825
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)	rs80356929
NM_007294.4(BRCA1):c.5502_5503dup (p.Arg1835fs)	rs397509291
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)	rs80356959
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)	rs398122702
NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter)	rs397509295
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs)	rs886040305
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)	rs80357410
NM_007294.4(BRCA1):c.715del (p.His239fs)	rs879255294
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)	rs797045047
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp)	rs180177324
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)	rs119491110
NM_012434.5(SLC17A5):c.294_310del
NM_012434.5(SLC17A5):c.409del (p.Met137fs)	rs794729653
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)	rs727504157
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter)	rs1769021763
NM_012434.5(SLC17A5):c.699del (p.Phe233fs)	rs779548058
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)	rs755923873
NM_012434.5(SLC17A5):c.905del (p.Asn302fs)	rs771156053
NM_012434.5(SLC17A5):c.998del (p.Leu333fs)	rs779494716
NM_013245.3(VPS4A):c.83C>T (p.Ala28Val)	rs1965431981
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter)	rs765106259
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs)	rs1644562014
NM_013339.4(ALG6):c.1018del (p.Ser340fs)	rs1269984067
NM_013339.4(ALG6):c.1136del (p.Pro379fs)	rs1553156884
NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)
NM_013339.4(ALG6):c.1167del (p.Ser390fs)	rs769698652
NM_013339.4(ALG6):c.1194dup (p.Ile399fs)	rs1207096732
NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs)
NM_013339.4(ALG6):c.1326+1G>A
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)	rs1553157428
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)	rs756566938
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)	rs780528545
NM_013339.4(ALG6):c.428del (p.Lys143fs)	rs1471326272
NM_013339.4(ALG6):c.506_507del (p.Val169fs)	rs1274913587
NM_013339.4(ALG6):c.634dup (p.Cys212fs)	rs879133727
NM_013339.4(ALG6):c.684del (p.Phe228fs)	rs2100421533
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer)	rs2100421727
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter)	rs1644543791
NM_013382.7(POMT2):c.1333-14G>A	rs918556979
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)	rs1452558347
NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter)	rs866688232
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro)	rs115532916
NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter)	rs1254503252
NM_014252.4(SLC25A15):c.212T>A (p.Leu71Gln)	rs121908534
NM_014252.4(SLC25A15):c.236C>G (p.Ser79Ter)	rs2138045987
NM_014252.4(SLC25A15):c.326del (p.Asn109fs)
NM_014252.4(SLC25A15):c.408del (p.Met137fs)	rs780201405
NM_014252.4(SLC25A15):c.498del (p.Leu167fs)	rs2138056689
NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter)	rs1480063127
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu)	rs141028076
NM_014297.5(ETHE1):c.43C>T (p.Gln15Ter)	rs2146021370
NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys)	rs749803238
NM_014297.5(ETHE1):c.79C>T (p.Gln27Ter)	rs749803238
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)	rs1057517294
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)	rs1444216187
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)	rs1566067485
NM_014363.6(SACS):c.699del (p.Asp235fs)	rs1415870785
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)	rs767871841
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)	rs1050220787
NM_015294.6(TRIM37):c.370-1G>A
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro)	rs756980496
NM_015506.3(MMACHC):c.178dup (p.Asp60fs)	rs1570829757
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)	rs201777449
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)	rs574983400
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)	rs2149323799
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)	rs1553162910
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)	rs370596113
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs)	rs2149323855
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)	rs200895671
NM_015506.3(MMACHC):c.82-11_82-8del	rs751236442
NM_015702.3(MMADHC):c.128_129del (p.His43fs)	rs1162948308
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter)	rs2105042238
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)	rs118204048
NM_015713.5(RRM2B):c.662A>G (p.Asn221Ser)	rs863224193
NM_015721.3(GEMIN4):c.2452T>C (p.Trp818Arg)	rs730882219
NM_015836.4(WARS2):c.797del (p.Pro266fs)	rs746478253
NM_016222.4(DDX41):c.232_233insAA (p.Pro78fs)	rs1554111683
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg)	rs797045036
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter)	rs1566306570
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)	rs193919335
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs)	rs1336819076
NM_018062.4(FANCL):c.375-2033C>G	rs1690571577
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs)	rs1714102462
NM_020166.5(MCCC1):c.1518del (p.Glu506fs)
NM_020166.5(MCCC1):c.1630del (p.Arg544fs)
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs)	rs1311374961
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer)	rs2108441513
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter)	rs1311139055
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter)	rs1177891822
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter)	rs2108526606
NM_020166.5(MCCC1):c.622del (p.Arg208fs)
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter)	rs1553862845
NM_020320.5(RARS2):c.-2A>G	rs201150141
NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter)	rs753312969
NM_020320.5(RARS2):c.1612del (p.Thr538fs)	rs781417096
NM_020320.5(RARS2):c.42del (p.Arg15fs)	rs777942571
NM_020320.5(RARS2):c.474_477del (p.Glu159fs)	rs774755297
NM_020451.3(SELENON):c.1387+1G>A	rs2047977957
NM_020533.3(MCOLN1):c.680+1G>A	rs1599254152
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter)	rs372940918
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser)	rs1057519565
NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp)	rs587777623
NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg)	rs1057524157
NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr)	rs1554944271
NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del)	rs1554943158
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
NM_021922.3(FANCE):c.1096del (p.Ser366fs)	rs1272613429
NM_021922.3(FANCE):c.118del (p.Ala40fs)
NM_021922.3(FANCE):c.1239dup (p.Pro414fs)	rs1561792535
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
NM_021922.3(FANCE):c.524dup (p.Arg176fs)	rs773363446
NM_021922.3(FANCE):c.538del (p.Ser180fs)
NM_021922.3(FANCE):c.929dup (p.Val311fs)	rs587778337
NM_022081.6(HPS4):c.2054del (p.Pro685fs)	rs2146241760
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter)	rs763293192
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr)
NM_022132.5(MCCC2):c.1216+2T>A	rs1554138265
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)	rs2112251855
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)	rs768272570
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)	rs760881963
NM_022132.5(MCCC2):c.190A>T (p.Lys64Ter)	rs796051989
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)	rs147903984
NM_022132.5(MCCC2):c.581del (p.Thr194fs)	rs1190325113
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)	rs886043524
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)	rs766753795
NM_022132.5(MCCC2):c.689del (p.Asn230fs)	rs2112412398
NM_022132.5(MCCC2):c.739-2A>G	rs2112427637
NM_022132.5(MCCC2):c.739del	rs1463802125
NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter)
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)	rs119103221
NM_022725.4(FANCF):c.84del (p.Ala29fs)	rs1275961745
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter)	rs776264072
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)	rs768443448
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)	rs863224782
NM_024675.4(PALB2):c.109-12T>A	rs774949203
NM_024675.4(PALB2):c.1114dup (p.Ser372fs)	rs1060499815
NM_024675.4(PALB2):c.1117del (p.Glu373fs)
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)
NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs)	rs1555461280
NM_024675.4(PALB2):c.1485del (p.Asp496fs)	rs1555461256
NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter)
NM_024675.4(PALB2):c.1641_1669del (p.Ser548fs)
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer)	rs515726073
NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs)	rs1597091425
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)	rs730881876
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter)	rs876660475
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs)	rs1966862408
NM_024675.4(PALB2):c.2020_2021del (p.Asp674fs)	rs2142383242
NM_024675.4(PALB2):c.2109_2112del (p.Leu703fs)	rs2142380816
NM_024675.4(PALB2):c.212-2A>C	rs730881879
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)	rs1555461875
NM_024675.4(PALB2):c.224_228del (p.Lys75fs)	rs1064795640
NM_024675.4(PALB2):c.226del (p.Ile76fs)	rs587782443
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)	rs876659571
NM_024675.4(PALB2):c.228_229del (p.Ile76fs)	rs1555461870
NM_024675.4(PALB2):c.2298dup (p.Val767fs)	rs1555460407
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)	rs1060502748
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter)	rs1060502768
NM_024675.4(PALB2):c.2405del (p.Cys802fs)	rs1966856604
NM_024675.4(PALB2):c.2463delinsAA (p.Asn821fs)
NM_024675.4(PALB2):c.2470del (p.Cys824fs)	rs876658348
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)	rs750650768
NM_024675.4(PALB2):c.2575del (p.Ser859fs)	rs2142367858
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs)	rs876660643
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter)	rs587781457
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter)	rs1555459925
NM_024675.4(PALB2):c.2748+1G>T	rs753153576
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)	rs1219715328
NM_024675.4(PALB2):c.2938del (p.Ser980fs)	rs1555459540
NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs)	rs1555459528
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)	rs786203775
NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs)
NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs)	rs1597079711
NM_024675.4(PALB2):c.3074dup (p.Leu1026fs)
NM_024675.4(PALB2):c.3124dup (p.Thr1042fs)	rs1555458828
NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter)	rs2142298948
NM_024675.4(PALB2):c.3202-1G>A	rs515726111
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)	rs1567206823
NM_024675.4(PALB2):c.3350+1G>A	rs864622192
NM_024675.4(PALB2):c.3350+4A>G	rs180177136
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)	rs1597062038
NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter)	rs1597061983
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)	rs773829275
NM_024675.4(PALB2):c.500_513del (p.Asp167fs)	rs876660719
NM_024675.4(PALB2):c.532G>T (p.Glu178Ter)
NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter)	rs1597098943
NM_024675.4(PALB2):c.625del (p.Ser209fs)	rs1597098739
NM_024675.4(PALB2):c.885_886insG (p.Met296fs)	rs1597097936
NM_024675.4(PALB2):c.931A>T (p.Lys311Ter)	rs1060499831
NM_024675.4(PALB2):c.953_954del (p.Ser318fs)	rs1060502800
NM_024685.4(BBS10):c.1315del (p.Gln439fs)	rs1592491950
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter)	rs768385647
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)	rs121908174
NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs)	rs1973237748
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs)	rs1555580957
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)	rs373104267
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs)	rs1567831649
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)	rs1555605955
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)	rs1060501739
NM_032043.3(BRIP1):c.1543del (p.Glu515fs)	rs1064793812
NM_032043.3(BRIP1):c.1770del (p.Trp592fs)	rs2145091141
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)	rs587781985
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)	rs760782298
NM_032043.3(BRIP1):c.2103del (p.Glu702fs)	rs2144701568
NM_032043.3(BRIP1):c.210del (p.Lys70fs)	rs1555617925
NM_032043.3(BRIP1):c.2143_2163delinsTTCT (p.His715fs)
NM_032043.3(BRIP1):c.2400C>A (p.Tyr800Ter)	rs574552037
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)	rs574552037
NM_032043.3(BRIP1):c.243del (p.Val82fs)	rs1064794890
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)	rs786203898
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs)	rs1567732136
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)	rs1060501766
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)	rs140233356
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs)	rs774684620
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)	rs763443434
NM_032043.3(BRIP1):c.438_440delinsCT (p.Tyr147fs)	rs786203429
NM_032043.3(BRIP1):c.441_445delinsA (p.Tyr147_Asp149delinsTer)
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)	rs1567868477
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)	rs876660613
NM_032043.3(BRIP1):c.627dup (p.Pro210fs)
NM_032043.3(BRIP1):c.646del (p.Arg216fs)	rs1603347042
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)	rs1555618716
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)	rs1277509410
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)	rs556752387
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)	rs1281334523
NM_052845.4(MMAB):c.574_577del (p.Ala192fs)
NM_058216.3(RAD51C):c.1026+5_1026+7del	rs587781410
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)	rs767796996
NM_058216.3(RAD51C):c.472dup (p.Ile158fs)	rs2143746162
NM_058216.3(RAD51C):c.572-1G>C	rs1413872299
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys)	rs587781241
NM_133171.5(ELMO2):c.1802-1G>C	rs886037918
NM_133433.4(NIPBL):c.5709+1G>A	rs587783979
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys)	rs888230251
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)	rs1057517071
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)	rs760426769
NM_138694.4(PKHD1):c.1338del (p.Leu447fs)	rs1582013246
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)	rs777183511
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)	rs370277502
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)	rs1464962854
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)	rs771180444
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)	rs1057516804
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)	rs1582053820
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)	rs797045101
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)	rs757099749
NM_138927.4(SON):c.3852_3856del (p.Met1284fs)	rs1114167303
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773
NM_144997.7(FLCN):c.127G>T (p.Glu43Ter)	rs1555611494
NM_145054.5(CFAP52):c.1304del (p.Gly435fs)	rs1360832162
NM_152383.5(DIS3L2):c.2302del (p.Leu768fs)
NM_152383.5(DIS3L2):c.325dup (p.Asp109fs)	rs1441475659
NM_152383.5(DIS3L2):c.645del (p.Cys216fs)	rs1328362747
NM_152383.5(DIS3L2):c.733C>T (p.Arg245Ter)	rs199648534
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)	rs368489658
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu)	rs202126574
NM_152443.3(RDH12):c.488del (p.Lys163fs)	rs2038193754
NM_152443.3(RDH12):c.580dup (p.Tyr194fs)	rs2140145502
NM_152443.3(RDH12):c.617C>T (p.Ala206Val)
NM_152443.3(RDH12):c.659-2A>T	rs2038231425
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu)	rs2038232911
NM_152443.3(RDH12):c.715C>T (p.Arg239Trp)	rs751589863
NM_152443.3(RDH12):c.779dup (p.Ala262fs)
NM_152443.3(RDH12):c.812_813del (p.Ala271fs)	rs2140151036
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)	rs878853339
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)	rs752762669
NM_153006.3(NAGS):c.1097-2A>G	rs2049106256
NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro)	rs104894605
NM_153006.3(NAGS):c.310del (p.Arg104fs)
NM_153006.3(NAGS):c.569G>A (p.Trp190Ter)	rs2049079486
NM_153006.3(NAGS):c.570G>A (p.Trp190Ter)	rs755257734
NM_153006.3(NAGS):c.654dup (p.Gly219fs)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)	rs764397417
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)
NM_172250.3(MMAA):c.1114del (p.Gln372fs)	rs765726949
NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del)	rs780082584
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)	rs1553957931
NM_172250.3(MMAA):c.733+1G>T
NM_172250.3(MMAA):c.963_969+4del
NM_174936.4(PCSK9):c.386A>G (p.Asp129Gly)	rs1553135971
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter)	rs376226764
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp)	rs558341655
NM_176795.5(HRAS):c.488_497del (p.Leu163fs)	rs764755556
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)	rs773139166
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)	rs587777836
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)	rs863224530
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro)	rs1057519449
NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg)	rs752728823
NM_183050.4(BCKDHB):c.1007dup (p.Phe337fs)
NM_183050.4(BCKDHB):c.1037A>G (p.Gln346Arg)	rs2127965290
NM_183050.4(BCKDHB):c.1095_1096del (p.Pro366fs)
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter)	rs1554181192
NM_183050.4(BCKDHB):c.329_330delinsAA (p.Leu110Ter)	rs2127727924
NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)	rs149766077
NM_183050.4(BCKDHB):c.57_64dup (p.His22fs)	rs1410520713
NM_183050.4(BCKDHB):c.612del (p.Phe204fs)	rs1210649507
NM_183050.4(BCKDHB):c.843dup (p.His282fs)
NM_183050.4(BCKDHB):c.94del (p.Ala32fs)	rs2127698980
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)	rs1554205541
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs)	rs1057518665
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)	rs746797123
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)	rs796052505
NM_199292.2(TH):c.-70G>A	rs1372180906
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys)	rs28939720
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)	rs2125506459
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)	rs569826109
NM_205861.3(DHDDS):c.264_267del (p.Ser88fs)
NM_205861.3(DHDDS):c.513G>A (p.Trp171Ter)
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)	rs1553250072
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)	rs777629750
NM_206933.4(USH2A):c.409dup (p.Ser137fs)	rs1571805164
NM_206933.4(USH2A):c.98C>A (p.Ser33Ter)	rs2039690812
NM_207037.2(TCF12):c.1838G>A (p.Arg613His)
Single allele

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