ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "pathogenic" from any submitter

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1349
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_018384.5(GIMAP5):c.611T>C (p.Leu204Pro) rs72650695 0.00189
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) rs41303899 0.00092
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_001086521.2(NDUFAF8):c.195+271C>T rs745332456 0.00063
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp) rs201201843 0.00039
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_000178.4(GSS):c.373C>T (p.Arg125Cys) rs28936396 0.00029
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00029
NM_207581.4(DUOXA2):c.205+2T>C rs201506037 0.00029
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln) rs139332887 0.00028
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly) rs199473676 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_000237.3(LPL):c.998G>A (p.Arg333His) rs144466625 0.00024
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986 0.00016
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 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_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) rs137852937 0.00014
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu) rs121918342 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter) rs138884194 0.00010
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys) rs193922461 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_003193.5(TBCE):c.100+1G>A rs200356271 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_021957.4(GYS2):c.495+1G>T rs372079212 0.00009
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter) rs149244943 0.00008
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) rs104894030 0.00007
NM_002225.5(IVD):c.550+1G>A rs377147994 0.00007
NM_016035.5(COQ4):c.202G>C (p.Asp68His) rs758522459 0.00007
NM_018480.7(TMEM126B):c.397G>A (p.Asp133Asn) rs573006534 0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480 0.00007
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309 0.00006
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00006
NM_000110.4(DPYD):c.2579del (p.Gln860fs) rs746991079 0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105 0.00006
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys) rs104893843 0.00006
NM_000406.3(GNRHR):c.797T>G (p.Leu266Arg) rs148499544 0.00006
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) rs76811038 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145 0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001414.4(EIF2B1):c.252+1G>A rs113994006 0.00006
NM_002103.5(GYS1):c.678+1G>A rs755305465 0.00006
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993 0.00005
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795 0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu) rs72549304 0.00004
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter) rs759372918 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000182.5(HADHA):c.919-2A>G rs200017313 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly) rs371397270 0.00004
NM_000277.3(PAH):c.1238G>A (p.Arg413His) rs79931499 0.00004
NM_000303.3(PMM2):c.640-15479C>T rs1258107584 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) rs121907985 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp) rs370624118 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812 0.00004
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile) rs622288 0.00004
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) rs761714818 0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_182760.4(SUMF1):c.602+1G>A rs143616931 0.00004
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg) rs747268471 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_000048.4(ASL):c.284G>A (p.Arg95His) rs150244667 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter) rs141597515 0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu) rs184148104 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690 0.00003
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669 0.00003
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964 0.00003
NM_000532.5(PCCB):c.1398+1G>T rs794727092 0.00003
NM_000709.4(BCKDHA):c.288+9C>T rs398123497 0.00003
NM_001002294.3(FMO3):c.182A>G (p.Asn61Ser) rs72549322 0.00003
NM_001003722.2(GLE1):c.1750C>T (p.Arg584Trp) rs765269946 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter) rs750345068 0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) rs121909767 0.00003
NM_001378454.1(ALMS1):c.11669-2A>G rs952110960 0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494 0.00003
NM_002529.4(NTRK1):c.1354+1G>T rs764771898 0.00003
NM_002637.4(PHKA1):c.2606+1G>A rs373517016 0.00003
NM_003060.4(SLC22A5):c.1053-2A>C rs777004046 0.00003
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_004453.4(ETFDH):c.405+3A>T rs796051965 0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001 0.00003
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln) rs776483190 0.00003
NM_013339.4(ALG6):c.1249del (p.Gln417fs) rs771069984 0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter) rs776248931 0.00003
NM_020451.3(SELENON):c.1010+1G>A rs908682527 0.00003
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter) rs193922703 0.00003
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs) rs761922947 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter) rs796052086 0.00003
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037 0.00003
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg) rs757434857 0.00002
NM_000016.6(ACADM):c.158G>A (p.Arg53His) rs754938068 0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter) rs766007316 0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp) rs1346436537 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu) rs753419933 0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000282.4(PCCA):c.775_779del (p.Leu259fs) rs794726976 0.00002
NM_000287.4(PEX6):c.1962-1G>A rs267608229 0.00002
NM_000303.3(PMM2):c.255+1G>A rs1060499598 0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000320.3(QDPR):c.1A>T (p.Met1Leu) rs1034528249 0.00002
NM_000360.4(TH):c.1189G>A (p.Gly397Arg) rs1264884607 0.00002
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp) rs121965016 0.00002
NM_000410.4(HFE):c.892G>T (p.Glu298Ter) rs749553271 0.00002
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter) rs369776766 0.00002
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981 0.00002
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser) rs760029254 0.00002
NM_000478.6(ALPL):c.815G>A (p.Arg272His) rs781272386 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 0.00002
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter) rs1313207845 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter) rs745930696 0.00002
NM_001032386.2(SUOX):c.1096C>T (p.Arg366Cys) rs760901724 0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) rs765893479 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln) rs754049402 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_003859.3(DPM1):c.455G>T (p.Gly152Val) rs587777116 0.00002
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu) rs750831299 0.00002
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992 0.00002
NM_013339.4(ALG6):c.257+2dup rs745426479 0.00002
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys) rs104894424 0.00002
NM_014297.5(ETHE1):c.2T>C (p.Met1Thr) rs1470124674 0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_018706.7(DHTKD1):c.1897-1G>A rs760386662 0.00002
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs) rs777028011 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser) rs119470018 0.00002
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) rs370547023 0.00002
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys) rs1247205097 0.00002
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) rs786204533 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln) rs374704368 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys) rs1648832587 0.00001
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser) rs746136472 0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr) rs875989859 0.00001
NM_000018.4(ACADVL):c.1077+1G>T rs140989450 0.00001
NM_000018.4(ACADVL):c.138+1G>A rs747351687 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser) rs1278227329 0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146 0.00001
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666 0.00001
NM_000048.4(ASL):c.1154G>A (p.Arg385His) rs746120802 0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353 0.00001
NM_000048.4(ASL):c.280C>T (p.Arg94Cys) rs374304304 0.00001
NM_000048.4(ASL):c.331C>T (p.Arg111Trp) rs138310841 0.00001
NM_000048.4(ASL):c.978G>C (p.Gln326His) rs764356037 0.00001
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter) rs587781597 0.00001
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000053.4(ATP7B):c.1285+2T>A rs759749626 0.00001
NM_000053.4(ATP7B):c.1946+6T>C rs751287778 0.00001
NM_000053.4(ATP7B):c.2122-8T>G rs193922102 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997 0.00001
NM_000053.4(ATP7B):c.2575+1G>C rs766149114 0.00001
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter) rs1033235740 0.00001
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs) rs1555282316 0.00001
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile) rs121918557 0.00001
NM_000057.4(BLM):c.3020-258A>G rs1301751251 0.00001
NM_000059.4(BRCA2):c.4037del (p.Thr1346fs) rs1162394508 0.00001
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045 0.00001
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter) rs146170505 0.00001
NM_000126.4(ETFA):c.470T>G (p.Val157Gly) rs119458969 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000146.4(FTL):c.1A>G (p.Met1Val) rs139732572 0.00001
NM_000151.4(G6PC1):c.757del (p.Ile253fs) rs2056092619 0.00001
NM_000152.5(GAA):c.1441del (p.Trp481fs) rs1403500889 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2482-2A>G rs756671283 0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219 0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) rs1436074042 0.00001
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 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.982C>T (p.Arg328Cys) rs144993986 0.00001
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802 0.00001
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp) rs1703086906 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser) rs751742575 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile) rs869312438 0.00001
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter) rs386833521 0.00001
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val) rs1275684568 0.00001
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530 0.00001
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter) rs386833572 0.00001
NM_000178.4(GSS):c.709C>T (p.Arg237Ter) rs201925123 0.00001
NM_000179.3(MSH6):c.261-1G>C rs863225402 0.00001
NM_000181.4(GUSB):c.1145G>A (p.Arg382His) rs764018631 0.00001
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter) rs552292698 0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530 0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs) rs753796180 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353 0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu) rs121965051 0.00001
NM_000277.3(PAH):c.1200-1G>A rs62507322 0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695 0.00001
NM_000277.3(PAH):c.241A>C (p.Thr81Pro) rs62509017 0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647 0.00001
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577 0.00001
NM_000277.3(PAH):c.982A>G (p.Thr328Ala) rs199475616 0.00001
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs) rs1408438094 0.00001
NM_000293.3(PHKB):c.307C>T (p.Arg103Ter) rs145166656 0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930 0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100 0.00001
NM_000303.3(PMM2):c.66+1G>T rs937726878 0.00001
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter) rs1189568492 0.00001
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 0.00001
NM_000335.5(SCN5A):c.689T>C (p.Ile230Thr) rs199473073 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) rs786204426 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_000478.6(ALPL):c.1182dup (p.Ile395fs) rs754826836 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.997+1G>T rs1292415045 0.00001
NM_000481.4(AMT):c.317T>C (p.Ile106Thr) rs1249645541 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) rs397508256 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys) rs397508533 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) rs759092928 0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623 0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971 0.00001
NM_000521.4(HEXB):c.1165dup (p.Gln389fs) rs1749680051 0.00001
NM_000521.4(HEXB):c.1242G>A (p.Lys414=) rs1309123671 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) rs1291555996 0.00001
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) rs753823903 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495 0.00001
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys) rs756138074 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489 0.00001
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter) rs1214763792 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_001002294.3(FMO3):c.198G>T (p.Met66Ile) rs72549323 0.00001
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter) rs149644940 0.00001
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709 0.00001
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter) rs888691362 0.00001
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter) rs1553129892 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter) rs774844858 0.00001
NM_001097577.3(ANG):c.155G>A (p.Ser52Asn) rs121909542 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_001164277.2(SLC37A4):c.381+2T>G rs782645078 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289 0.00001
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter) rs1025201214 0.00001
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter) rs1457774840 0.00001
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His) rs1046560765 0.00001
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852 0.00001
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met) rs760428437 0.00001
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter) rs779893091 0.00001
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) rs797044590 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs) rs758708229 0.00001
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter) rs754008420 0.00001
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn) rs61731073 0.00001
NM_003060.4(SLC22A5):c.394-16T>A rs775097754 0.00001
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro) rs386134197 0.00001
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser) rs386134198 0.00001
NM_003172.4(SURF1):c.74G>A (p.Trp25Ter) rs1187982748 0.00001
NM_004415.4(DSP):c.4518del (p.Arg1506fs) rs1289037294 0.00001
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn) rs748289922 0.00001
NM_004544.4(NDUFA10):c.1A>G (p.Met1Val) rs387906872 0.00001
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) rs769772100 0.00001
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143 0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) rs119103253 0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223 0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter) rs764858363 0.00001
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) rs201579632 0.00001
NM_006941.4(SOX10):c.482G>A (p.Arg161His) rs750566714 0.00001
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter) rs796052850 0.00001
NM_007294.4(BRCA1):c.5467+2T>C rs80358009 0.00001
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) rs180177307 0.00001
NM_012434.5(SLC17A5):c.1259+1G>A rs146095590 0.00001
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter) rs368778231 0.00001
NM_014297.5(ETHE1):c.505+1G>A rs935855792 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014845.6(FIG4):c.290-2A>T rs587777715 0.00001
NM_015665.6(AAAS):c.938T>C (p.Val313Ala) rs773601814 0.00001
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter) rs1049674573 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_018129.4(PNPO):c.284G>A (p.Arg95His) rs552833222 0.00001
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 0.00001
NM_018941.4(CLN8):c.209G>A (p.Arg70His) rs386834124 0.00001
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187 0.00001
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter) rs1474783444 0.00001
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) rs778603129 0.00001
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter) rs775713184 0.00001
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp) rs267606682 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.2012T>G (p.Leu671Ter) rs755263466 0.00001
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573 0.00001
NM_024884.3(L2HGDH):c.256+1G>A rs150299874 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 0.00001
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter) rs1265030199 0.00001
NM_033028.5(BBS4):c.1A>G (p.Met1Val) rs773109542 0.00001
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) rs786204749 0.00001
NM_138694.4(PKHD1):c.1964+1G>T rs1385712943 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter) rs765020336 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr) rs137852854 0.00001
NM_182894.3(VSX2):c.667G>A (p.Gly223Arg) rs755799430 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_206933.4(USH2A):c.8681+1G>A rs876657733 0.00001
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr) rs1361089796
NM_000016.6(ACADM):c.224del (p.Val75fs) rs1057516480
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs) rs2100365750
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
NM_000017.4(ACADS):c.2T>C (p.Met1Thr)
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1113del (p.Ile373fs) rs1057517416
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs) rs2071395559
NM_000018.4(ACADVL):c.1882del (p.Gln628fs) rs1597541142
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs) rs1555529204
NM_000018.4(ACADVL):c.335del (p.Phe112fs) rs764028320
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs) rs1555528304
NM_000018.4(ACADVL):c.932del (p.Phe311fs) rs764488310
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp) rs1603232195
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.250del (p.Leu84fs) rs1831190354
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.379+1G>A rs138121153
NM_000035.4(ALDOB):c.625-2A>G rs786204503
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro) rs1554702433
NM_000045.4(ARG1):c.938del (p.Lys313fs) rs1554251356
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter) rs1355071930
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del) rs969231209
NM_000046.5(ARSB):c.312+2T>G
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter) rs869312994
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.4(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.4(ATM):c.2140del (p.Thr714fs) rs2080473458
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs) rs2135421164
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter) rs1565503182
NM_000051.4(ATM):c.6325dup (p.Trp2109fs) rs1555114812
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs) rs1591129337
NM_000051.4(ATM):c.7630-2A>G rs587779866
NM_000051.4(ATM):c.7858del (p.Val2620fs) rs1555125349
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs) rs1064793406
NM_000053.4(ATP7B):c.2121+3A>G rs1248002612
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter) rs770020484
NM_000053.4(ATP7B):c.2614_2615del (p.Val872fs) rs2139209584
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg) rs199623434
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs) rs1555287300
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val) rs753594031
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter) rs786204658
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer) rs1957151127
NM_000053.4(ATP7B):c.3963_3964dup (p.Arg1322fs) rs2138560807
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs) rs1566441447
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter) rs911589273
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter) rs1356090839
NM_000057.4(BLM):c.2187del (p.Leu730fs)
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2406+2T>G rs367543016
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000059.3(BRCA2):c.5362_5363delinsA (p.Ser1788fs) rs1566232310
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter) rs80358413
NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter) rs781079248
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs) rs483353112
NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter) rs1555281911
NM_000059.4(BRCA2):c.1733del (p.Gly578fs) rs879255326
NM_000059.4(BRCA2):c.1792dup (p.Thr598fs) rs886040389
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer) rs587779358
NM_000059.4(BRCA2):c.1846del (p.Cys616fs) rs1566224496
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter) rs397507278
NM_000059.4(BRCA2):c.1910-1G>T rs1566225769
NM_000059.4(BRCA2):c.2106del (p.Thr703fs) rs2072450488
NM_000059.4(BRCA2):c.2176del (p.Val726fs) rs1555282499
NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs) rs398122744
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter) rs773356478
NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs) rs397507291
NM_000059.4(BRCA2):c.2731del (p.Glu911fs) rs80359344
NM_000059.4(BRCA2):c.2886_3144del (p.His962fs) rs2072467220
NM_000059.4(BRCA2):c.2T>C (p.Met1Thr) rs80358547
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer) rs876661270
NM_000059.4(BRCA2):c.3069del (p.Asn1023fs) rs876658555
NM_000059.4(BRCA2):c.3086dup (p.Met1029fs) rs2072472083
NM_000059.4(BRCA2):c.3100_3101del (p.Asp1033_Ile1034insTer) rs1555283051
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs) rs80359382
NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter) rs1555283209
NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter) rs1237049560
NM_000059.4(BRCA2):c.3481_3482dup (p.Asp1161fs) rs878853569
NM_000059.4(BRCA2):c.3649del (p.Arg1217fs) rs864622134
NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter) rs1555283366
NM_000059.4(BRCA2):c.3738_3741del (p.Asn1246fs) rs1555283381
NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter) rs1555280859
NM_000059.4(BRCA2):c.3866_3868dup (p.Cys1290Ter) rs1555283442
NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs) rs397507698
NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs) rs1566229421
NM_000059.4(BRCA2):c.4092_4093insAA (p.Cys1365fs) rs876658329
NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs) rs80359435
NM_000059.4(BRCA2):c.4263dup (p.Glu1422Ter) rs1555283664
NM_000059.4(BRCA2):c.4312_4313dup (p.Ala1439fs) rs1064794168
NM_000059.4(BRCA2):c.452dup (p.Thr152fs) rs2072343917
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs) rs1057517565
NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter) rs1555283865
NM_000059.4(BRCA2):c.4632_4636del (p.Asn1544_Leu1545insTer) rs2137508514
NM_000059.4(BRCA2):c.475+4del rs276174848
NM_000059.4(BRCA2):c.4894_4895del (p.Ser1632fs) rs397507748
NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter) rs1566231364
NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs) rs1555284103
NM_000059.4(BRCA2):c.5362dup (p.Ser1788fs) rs587781849
NM_000059.4(BRCA2):c.5653del (p.Cys1885fs) rs886040602
NM_000059.4(BRCA2):c.6116T>G (p.Leu2039Ter) rs1555284559
NM_000059.4(BRCA2):c.6155dup (p.Ser2053fs) rs1566234047
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu) rs80358871
NM_000059.4(BRCA2):c.6393del (p.Lys2131fs) rs886038145
NM_000059.4(BRCA2):c.6415_6426delinsTGTTTAGTTAG (p.Glu2139fs) rs2072554847
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter) rs398122559
NM_000059.4(BRCA2):c.6762del (p.Phe2254fs) rs80359624
NM_000059.4(BRCA2):c.681+2dup rs587781486
NM_000059.4(BRCA2):c.6865_6866del (p.Leu2289fs) rs2137536911
NM_000059.4(BRCA2):c.6938-2A>G rs81002863
NM_000059.4(BRCA2):c.7097dup (p.Thr2367fs) rs786202600
NM_000059.4(BRCA2):c.7110dup (p.Ser2371fs) rs80359638
NM_000059.4(BRCA2):c.7147dup (p.Tyr2383fs) rs878853599
NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs) rs1555286031
NM_000059.4(BRCA2):c.718_719del (p.Leu240fs) rs1555281459
NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs) rs80359650
NM_000059.4(BRCA2):c.7436-1G>T rs886040939
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs) rs80359656
NM_000059.4(BRCA2):c.7717_7718del (p.Leu2573fs) rs2137567005
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter) rs863224468
NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter) rs786202796
NM_000059.4(BRCA2):c.8099del (p.Ile2700fs) rs2137580749
NM_000059.4(BRCA2):c.8331+2T>G rs398122602
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8501del (p.Thr2834fs) rs80359712
NM_000059.4(BRCA2):c.8632+2T>G rs397507998
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.4(BRCA2):c.8868dup (p.Gln2957fs) rs1555288386
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.4(BRCA2):c.9045del (p.Lys3015fs) rs2137622994
NM_000059.4(BRCA2):c.9096_9097del (p.Lys3032fs) rs397507419
NM_000059.4(BRCA2):c.9212dup (p.Val3072fs) rs1555288557
NM_000059.4(BRCA2):c.9256_9256+1delinsTA rs587781422
NM_000059.4(BRCA2):c.9286dup (p.Glu3096fs) rs778782209
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs) rs1566260198
NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs) rs1566260997
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.3(BTK):c.998A>G (p.His333Arg) rs193922133
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp) rs1064794292
NM_000088.4(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser) rs587779723
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.4(COL3A1):c.951+4A>T rs587779598
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp) rs587779673
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000098.3(CPT2):c.1569_1570del (p.His523fs) rs1572385947
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr) rs2116271469
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs) rs749571474
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs) rs773499329
NM_000127.3(EXT1):c.1315_1337dup (p.Asn446_Lys447insHisValThrValTer) rs1563571296
NM_000132.4(F8):c.6956dup (p.Leu2320fs) rs1475873048
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1459dup (p.Arg487fs) rs2039844868
NM_000135.4(FANCA):c.1567-20A>G rs775154397
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3973del (p.Asp1325fs) rs2151712879
NM_000136.3(FANCC):c.1155-1G>C rs1554829575
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
NM_000137.4(FAH):c.192+1G>T rs786204683
NM_000137.4(FAH):c.47A>T (p.Asn16Ile) rs121965073
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter) rs886039550
NM_000138.5(FBN1):c.1148-2A>G rs397515756
NM_000138.5(FBN1):c.1459G>T (p.Glu487Ter) rs1555400374
NM_000138.5(FBN1):c.1709del (p.Cys570fs) rs193922182
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter) rs794728176
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.2682del (p.Ile895fs) rs193922194
NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs) rs193922197
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer) rs1566905976
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly) rs112930491
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter) rs111671429
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter) rs1555395750
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter) rs201499886
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg) rs2056092151
NM_000152.5(GAA):c.1716C>G (p.His572Gln) rs772962666
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe) rs2143883845
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.2167G>A (p.Val723Met) rs767247397
NM_000152.5(GAA):c.3G>A (p.Met1Ile) rs1187796945
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.349A>T (p.Met117Leu) rs145580093
NM_000153.4(GALC):c.560A>T (p.Asp187Val) rs997021099
NM_000153.4(GALC):c.884A>T (p.Asn295Ile) rs746922378
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.213dup (p.Asn72fs)
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) rs111033663
NM_000155.4(GALT):c.424A>G (p.Met142Val) rs111033692
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs) rs1703800818
NM_000158.4(GBE1):c.1336-1G>A rs375253942
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro) rs398123190
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu) rs933624223
NM_000159.4(GCDH):c.148T>C (p.Trp50Arg)
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser) rs142967670
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.636-4_639del rs775103982
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp) rs964724051
NM_000159.4(GCDH):c.776C>T (p.Ser259Leu) rs367699815
NM_000162.5(GCK):c.1019+1G>T
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.736G>A (p.Gly246Arg) rs2096275721
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.5(GCK):c.863+1G>A rs1376796469
NM_000169.3(GLA):c.1057_1058del (p.Met353fs) rs886044829
NM_000169.3(GLA):c.119C>T (p.Pro40Leu) rs398123199
NM_000169.3(GLA):c.128del (p.Gly43fs) rs797044500
NM_000169.3(GLA):c.153G>A (p.Met51Ile) rs869312255
NM_000169.3(GLA):c.154dup (p.Cys52fs)
NM_000169.3(GLA):c.370-2A>C rs730880444
NM_000169.3(GLA):c.3G>A (p.Met1Ile) rs2147487910
NM_000169.3(GLA):c.59_72dup (p.Asp25fs) rs1555987175
NM_000169.3(GLA):c.770C>T (p.Ala257Val) rs1569303218
NM_000169.3(GLA):c.824_825del (p.Leu275fs) rs1928173731
NM_000169.3(GLA):c.848dup (p.Met284fs) rs1555985002
NM_000169.3(GLA):c.863del (p.Ala288fs) rs1569303030
NM_000169.3(GLA):c.902dup (p.His302fs) rs1928166458
NM_000169.3(GLA):c.959_962del (p.Asn320fs) rs398123225
NM_000169.3(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg) rs386833542
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs) rs755313904
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys) rs376578742
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
NM_000179.2(MSH6):c.3647delG rs1064795629
NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs) rs786204252
NM_000179.3(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter) rs587779215
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.3(MSH6):c.1772del (p.Pro591fs) rs786202108
NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter) rs730881816
NM_000179.3(MSH6):c.1836dup (p.Leu613fs) rs1669381138
NM_000179.3(MSH6):c.1912del (p.Glu639fs) rs1553413294
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter) rs1114167709
NM_000179.3(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs) rs878853711
NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter) rs63750832
NM_000179.3(MSH6):c.2260dup (p.Thr754fs) rs1553413640
NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs) rs876661025
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter) rs587779241
NM_000179.3(MSH6):c.2602del (p.Met868fs) rs1572727797
NM_000179.3(MSH6):c.2845C>T (p.Gln949Ter) rs878853724
NM_000179.3(MSH6):c.2872C>T (p.Gln958Ter) rs1553414236
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs) rs878853729
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3253del (p.Thr1085fs) rs1060502891
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs) rs587781544
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs) rs876661073
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.3(MSH6):c.3543_3546del (p.Asp1181fs) rs1553332297
NM_000179.3(MSH6):c.3574del (p.Val1192fs) rs1553332671
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs) rs1553333072
NM_000179.3(MSH6):c.3733_3739dup (p.Thr1247fs) rs1670054668
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.3(MSH6):c.3767_3771dup (p.Gln1258fs)
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs) rs1572747278
NM_000179.3(MSH6):c.3936_3951del (p.Ile1313fs) rs1553333635
NM_000179.3(MSH6):c.517_520del (p.Leu173fs) rs1553411419
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000191.3(HMGCL):c.230del (p.Val77fs) rs1638632303
NM_000199.5(SGSH):c.1153del (p.Arg385fs) rs2041615714
NM_000199.5(SGSH):c.693_705del (p.Ala232fs) rs2041772144
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) rs931627770
NM_000203.5(IDUA):c.1395del (p.Gly466fs) rs1386109118
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro) rs121965026
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs) rs1220371654
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe) rs2153023278
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.306del (p.Thr103fs) rs1461124319
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter) rs1715035049
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_000206.3(IL2RG):c.270-1G>T rs193922346
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys) rs193922347
NM_000206.3(IL2RG):c.43C>T (p.Gln15Ter) rs1057517747
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000206.3(IL2RG):c.758-2A>G rs2147747509
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000209.4(PDX1):c.217dup (p.Leu73fs) rs1445970498
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr) rs199472712
NM_000235.4(LIPA):c.600G>A (p.Leu200=) rs1172318248
NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter) rs749211387
NM_000238.4(KCNH2):c.2398+5G>T rs1554425149
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.4(KCNH2):c.2766del (p.Pro923fs) rs1554424403
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs) rs1800940404
NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs) rs1554424044
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs) rs1800937691
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000249.4(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.4(MLH1):c.1409+1G>T rs267607825
NM_000249.4(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe) rs1064796101
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.4(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.546-1G>A rs587779022
NM_000249.4(MLH1):c.546-2A>T rs267607759
NM_000249.4(MLH1):c.860del (p.Asn287fs) rs63750034
NM_000251.3(MSH2):c.1023del (p.Val342fs) rs864622340
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter) rs876657701
NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter) rs876658223
NM_000251.3(MSH2):c.1511-1G>A rs267607964
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1661+2T>C rs1553366680
NM_000251.3(MSH2):c.1741del (p.Ile581fs) rs63750141
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter) rs786204321
NM_000251.3(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.3(MSH2):c.2485del (p.His829fs) rs63751117
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del) rs63750088
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter) rs587779170
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter) rs864622183
NM_000251.3(MSH2):c.943-2A>G rs587779198
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000264.5(PTCH1):c.2198C>G (p.Ser733Ter) rs1311804361
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro) rs878853856
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs) rs2145351244
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg) rs120074136
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
NM_000271.5(NPC1):c.464-2A>C rs2145485704
NM_000274.4(OAT):c.461G>T (p.Arg154Leu) rs121965039
NM_000277.3(PAH):c.1099del (p.Leu367fs) rs62506951
NM_000277.3(PAH):c.183C>A (p.Asn61Lys) rs199475634
NM_000277.3(PAH):c.199T>C (p.Ser67Pro) rs5030842
NM_000277.3(PAH):c.226G>T (p.Glu76Ter) rs762949770
NM_000277.3(PAH):c.400C>T (p.Gln134Ter) rs199475680
NM_000277.3(PAH):c.510-2A>G rs1555204750
NM_000277.3(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.722G>T (p.Arg241Leu) rs62508730
NM_000282.4(PCCA):c.645dup (p.Val216fs)
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly) rs121964957
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.2364_2365del rs755716911
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter) rs61753215
NM_000288.4(PEX7):c.188+1G>A rs267608254
NM_000303.3(PMM2):c.451_454del rs1274794195
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs) rs2060686245
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser) rs80338706
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys) rs558826439
NM_000308.4(CTSA):c.112del (p.Leu38fs) rs1241378191
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter) rs1589665853
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs) rs756159737
NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter) rs1559738598
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter) rs1553695764
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
NM_000349.3(STAR):c.135del (p.Ser46fs) rs193922393
NM_000360.4(TH):c.203del (p.Leu68fs) rs1554923852
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.983G>T (p.Cys328Phe) rs121917765
NM_000368.5(TSC1):c.1998-2A>G rs1057518217
NM_000368.5(TSC1):c.2208+2T>A rs1064794132
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000371.4(TTR):c.244G>A (p.Glu82Lys) rs1555631402
NM_000387.6(SLC25A20):c.10C>T (p.Gln4Ter) rs756998699
NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp) rs748394731
NM_000387.6(SLC25A20):c.823C>T (p.Arg275Ter)
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) rs1554902216
NM_000397.4(CYBB):c.1140dup (p.Lys381fs) rs193922445
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter) rs2146822029
NM_000397.4(CYBB):c.607G>T (p.Glu203Ter) rs193922449
NM_000410.4(HFE):c.848A>C (p.Gln283Pro) rs111033563
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000414.4(HSD17B4):c.1768-1G>A
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000426.4(LAMA2):c.7666del (p.Thr2556fs) rs2114839550
NM_000426.4(LAMA2):c.7935C>A (p.Tyr2645Ter)
NM_000426.4(LAMA2):c.8244+3_8244+6del rs746678525
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
NM_000458.4(HNF1B):c.345-1G>T
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) rs752514155
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser) rs1644755212
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro) rs121918003
NM_000478.6(ALPL):c.340G>A (p.Ala114Thr) rs1320839573
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr) rs765458125
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter) rs1209147330
NM_000481.4(AMT):c.992G>A (p.Arg331Gln) rs1368099067
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.200del (p.Pro67fs) rs2082697802
NM_000487.6(ARSA):c.211_212del (p.Cys71fs) rs1057516288
NM_000487.6(ARSA):c.244del (p.Arg82fs) rs1569081823
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.925G>T (p.Glu309Ter) rs199476360
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) rs398123419
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter) rs2115882158
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.4(CFTR):c.1585-2A>T rs397508233
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe) rs397508306
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter) rs1562907896
NM_000492.4(CFTR):c.217del (p.Leu73fs) rs397508348
NM_000492.4(CFTR):c.2203del (p.Arg735fs) rs397508351
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs) rs1554390864
NM_000492.4(CFTR):c.274-1G>C rs121908792
NM_000492.4(CFTR):c.2816A>G (p.His939Arg) rs397508440
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg) rs397508479
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs) rs1792366769
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg) rs121909036
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys) rs397508533
NM_000492.4(CFTR):c.3367+1G>A rs1470125842
NM_000492.4(CFTR):c.3368-2A>T rs755416052
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3623del (p.Gly1208fs) rs35396083
NM_000492.4(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.4(CFTR):c.3874-1G>A rs397508624
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro) rs397508653
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs) rs1057516457
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.4(CFTR):c.4136+1G>A rs1562928997
NM_000492.4(CFTR):c.4242+2T>C rs193922526
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.4(CFTR):c.489+2T>C rs397508732
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.531dup (p.Gly178fs) rs121908771
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu) rs397508784
NM_000492.4(CFTR):c.744-2A>G rs1057516646
NM_000492.4(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.4(CFTR):c.930del (p.Phe311fs) rs1584789226
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.1A>C (p.Met1Leu) rs34563000
NM_000518.5(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.5(HBB):c.315+2T>G rs63750283
NM_000518.5(HBB):c.315+2del rs1564874813
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.64dup (p.Asp22fs) rs1554918165
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000520.6(HEXA):c.1183del (p.Asp395fs) rs770303210
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1421+1G>T rs147324677
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1525_1526+27del rs2140319516
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.1294dup (p.Glu432fs) rs775920504
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) rs779328596
NM_000521.4(HEXB):c.1345del (p.Trp449fs) rs1324338803
NM_000521.4(HEXB):c.1611_1613+2del rs1554037170
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter) rs1114167287
NM_000521.4(HEXB):c.558+1G>C rs1198764997
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
NM_000527.5(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.5(LDLR):c.1867dup (p.Ile623fs) rs1555807206
NM_000527.5(LDLR):c.1898G>T (p.Arg633Leu) rs754536745
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter) rs193922569
NM_000527.5(LDLR):c.230del (p.Gly77fs) rs879254440
NM_000527.5(LDLR):c.274del (p.Gln92fs) rs2077232183
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp) rs879254584
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter) rs879254597
NM_000527.5(LDLR):c.777T>G (p.Tyr259Ter) rs2147228929
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del) rs72558452
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu) rs2108237867
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
NM_000532.5(PCCB):c.155_183+17del rs1941483558
NM_000532.5(PCCB):c.947T>G (p.Met316Arg) rs2108208811
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter) rs1060503142
NM_000535.7(PMS2):c.1571dup (p.Gly525fs) rs1554297534
NM_000535.7(PMS2):c.1A>C (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.445del (p.Tyr149fs) rs769742496
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000540.3(RYR1):c.9001-2A>G rs774119942
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs) rs281860676
NM_000543.5(SMPD1):c.354del (p.Ile119fs) rs727504165
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) rs1876084046
NM_000546.6(TP53):c.324_331delinsAAA (p.Phe109fs) rs2073455679
NM_000546.6(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.6(TP53):c.749C>T (p.Pro250Leu) rs1064794311
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer) rs2073171970
NM_000551.4(VHL):c.189dup (p.Arg64fs) rs1553619402
NM_000593.6(TAP1):c.-46_-45delinsAT rs1770963822
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter) rs140095668
NM_000642.3(AGL):c.214_215del (p.Glu72fs) rs754978531
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter) rs1652018859
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.4422del (p.Ala1475fs) rs1286364615
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000702.4(ATP1A2):c.2336G>A (p.Ser779Asn) rs2101995480
NM_000709.4(BCKDHA):c.1168-2A>G rs1555767285
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys) rs137852872
NM_000709.4(BCKDHA):c.14del (p.Ile5fs) rs398123494
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu) rs28934605
NM_000925.4(PDHB):c.310T>G (p.Leu104Val) rs201199166
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) rs2125032674
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter) rs1223055462
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.2(CLN3):c.1075del (p.Leu359fs) rs2046023126
NM_001042432.2(CLN3):c.1197+1G>A
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_001042432.2(CLN3):c.954_962+18del rs386833741
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1884del (p.Phe627_Tyr628insTer) rs2066990429
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser) rs1135402831
NM_001042492.3(NF1):c.2990+5G>A rs1555614464
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer) rs2067134264
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter) rs2067193761
NM_001042492.3(NF1):c.5609+5G>T rs1597832498
NM_001042492.3(NF1):c.5662del (p.Ile1888fs) rs2069449497
NM_001042492.3(NF1):c.7321+1G>T rs1135402903
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro) rs1060501335
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter) rs376790729
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter) rs587781295
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer) rs1553129062
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser) rs1057517765
NM_001082971.2(DDC):c.1241dup (p.Ser416fs)
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg) rs121909521
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer) rs2148659508
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) rs267608424
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter) rs193922679
NM_001113378.2(FANCI):c.295del (p.His99fs) rs759398314
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001128425.2(MUTYH):c.200del (p.Gly67fs) rs746449748
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs) rs1943525176
NM_001165963.4(SCN1A):c.4783_4784del (p.Leu1595fs) rs1689682880
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu) rs121918235
NM_001182.5(ALDH7A1):c.859C>T (p.Gln287Ter) rs1204010423
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter) rs764333096
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs) rs1555418825
NM_001195263.2(PDZD7):c.1011C>G (p.Tyr337Ter)
NM_001195518.2(MICU1):c.40del (p.Ala14fs) rs749124658
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs) rs2151521127
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001351169.2(NT5C2):c.312_313del (p.Leu105fs) rs763305896
NM_001354712.2(THRB):c.1324A>G (p.Met442Val) rs121918691
NM_001354712.2(THRB):c.803C>G (p.Ala268Gly) rs750905761
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg) rs80338862
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001360.3(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.3(DHCR7):c.355del (p.His119fs) rs747827699
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs) rs775111365
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr) rs386134249
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter) rs1555166567
NM_001370259.2(MEN1):c.252dup (p.Ile85fs) rs386134253
NM_001370259.2(MEN1):c.274del (p.Arg92fs) rs2136186754
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro) rs376872829
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) rs397514335
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter) rs148031701
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter) rs1437320571
NM_001378120.1(MBD5):c.1549C>T (p.Gln517Ter) rs1553518593
NM_001378454.1(ALMS1):c.1941del (p.Val648fs) rs1671852270
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs) rs868776324
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter) rs778728424
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter) rs904289501
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs) rs1572936092
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs) rs2103785778
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter) rs2103794046
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs)
NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs) rs1572163072
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn) rs137852963
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro) rs754521581
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs) rs1555788619
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001807.6(CEL):c.1776del (p.Val593fs) rs193922638
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter) rs759201450
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly) rs201716417
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp) rs121912595
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup) rs1288123680
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs) rs1700454068
NM_001875.5(CPS1):c.4101+2T>C rs767575696
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter) rs761225695
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer) rs778346264
NM_001909.5(CTSD):c.268del (p.Gln90fs) rs752612332
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del) rs1217050849
NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002470.4(MYH3):c.2776_2779del (p.Arg926fs) rs766768674
NM_002470.4(MYH3):c.4522C>T (p.Gln1508Ter) rs779530750
NM_002485.5(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.737del (p.Gly246fs) rs1811464751
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile) rs2101742052
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_003060.4(SLC22A5):c.-91_22del (p.Met1fs) rs1554085861
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del) rs386134215
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg) rs201262157
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter) rs386134207
NM_003172.4(SURF1):c.183_186del (p.Leu62fs) rs1433471292
NM_003172.4(SURF1):c.281dup (p.Leu94fs) rs1588691786
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003172.4(SURF1):c.833+1G>C rs782609482
NM_003590.5(CUL3):c.1377+1G>A
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) rs28939712
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu) rs200143780
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) rs111033335
NM_004318.4(ASPH):c.1695C>A (p.Tyr565Ter) rs781508063
NM_004360.5(CDH1):c.103G>T (p.Glu35Ter) rs1597838625
NM_004360.5(CDH1):c.1895_1896del (p.His632fs) rs1060501224
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter) rs587780787
NM_004360.5(CDH1):c.2430del (p.Phe810fs) rs786203752
NM_004366.6(CLCN2):c.1855G>T (p.Glu619Ter)
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) rs1562969219
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs) rs1480647123
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs) rs727503919
NM_004646.4(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_004937.3(CTNS):c.561+1del rs786204667
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter) rs1597654770
NM_004937.3(CTNS):c.61_61+2del rs2075652654
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg) rs2150925451
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter) rs776842972
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter) rs372318863
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_005359.6(SMAD4):c.894del (p.Gly299fs) rs2144429392
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
NM_005609.4(PYGM):c.1797del (p.Phe599fs) rs769960481
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs) rs770037766
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) rs775574131
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
NM_005908.4(MANBA):c.916del (p.Leu306fs)
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter) rs545032318
NM_006086.4(TUBB3):c.689C>T (p.Ser230Leu) rs886041459
NM_006218.4(PIK3CA):c.277C>T (p.Arg93Trp) rs1724342112
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr) rs951372478
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs) rs1569112324
NM_007215.4(POLG2):c.420del (p.Asp142fs) rs1555669548
NM_007289.4(MME):c.1400dup (p.Arg468fs) rs751149568
NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter) rs886037985
NM_007294.4(BRCA1):c.1091_1092del (p.Pro364fs) rs1555592526
NM_007294.4(BRCA1):c.1292del (p.Leu431fs) rs80357528
NM_007294.4(BRCA1):c.134+1G>C rs80358043
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs) rs1555591850
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs) rs80357770
NM_007294.4(BRCA1):c.2295del (p.Ser766fs) rs1567796243
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs) rs886040027
NM_007294.4(BRCA1):c.2429dup (p.Asn810fs) rs397508967
NM_007294.4(BRCA1):c.2624del (p.Pro875fs) rs2154368003
NM_007294.4(BRCA1):c.2748del (p.Asn916fs) rs398122667
NM_007294.4(BRCA1):c.2861dup (p.Ser955fs) rs886040079
NM_007294.4(BRCA1):c.3289dup (p.Ser1097fs) rs80357686
NM_007294.4(BRCA1):c.3475dup (p.Ile1159fs) rs1555587638
NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer) rs797044631
NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter) rs80357343
NM_007294.4(BRCA1):c.4116_4117insTT (p.Glu1373fs) rs398122682
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs) rs397509170
NM_007294.4(BRCA1):c.4534del (p.Ser1512fs) rs1567778176
NM_007294.4(BRCA1):c.4986+5G>A rs397509211
NM_007294.4(BRCA1):c.5089_5092del (p.Cys1697fs) rs80357710
NM_007294.4(BRCA1):c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745fs) rs483353071
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.4(BRCA1):c.547+1G>A rs80358030
NM_007294.4(BRCA1):c.547+1G>C rs80358030
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys) rs80356914
NM_007294.4(BRCA1):c.5517_5518insC (p.Asp1840fs) rs1597796956
NM_007294.4(BRCA1):c.671-2A>G rs80358108
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.4(BRCA1):c.933del (p.Gly312fs) rs1135401839
NM_012243.3(SLC35A3):c.594_598del (p.Lys198fs) rs1332257684
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) rs727504157
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter) rs755923873
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter) rs757203783
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met) rs1557115532
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) rs786204416
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014625.4(NPHS2):c.452del rs1250670041
NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser) rs1553316799
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile) rs1573186691
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg) rs281875317
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) rs119489102
NM_017547.4(FOXRED1):c.733+1G>A
NM_017882.3(CLN6):c.3G>A (p.Met1Ile) rs2093262869
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter) rs1490932431
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018297.4(NGLY1):c.1192del (p.Glu397_Val398insTer)
NM_019109.5(ALG1):c.115del (p.Val39fs) rs886042130
NM_020451.3(SELENON):c.863_864del (p.Val288fs) rs1184282261
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del) rs797044817
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) rs755184077
NM_021095.4(SLC5A6):c.422_423del (p.Val141fs) rs749980819
NM_024105.4(ALG12):c.1156dup (p.Gln386fs) rs770711819
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro) rs143788461
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs) rs786204701
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer) rs876659571
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter) rs1567214493
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs) rs1555459520
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs) rs1567206823
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter) rs864622695
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter) rs1565809409
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.310_311del (p.Glu104fs) rs2136091244
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter) rs553291328
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) rs756005814
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs) rs1223251937
NM_030632.3(ASXL3):c.5467C>T (p.Arg1823Ter) rs2145432318
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser) rs1057517996
NM_031885.5(BBS2):c.1206dup (p.Arg403fs) rs1964267396
NM_031885.5(BBS2):c.1371del (p.Lys458fs) rs2144143132
NM_031885.5(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_032043.3(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs) rs1603328466
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.646del (p.Arg216fs) rs1603347042
NM_032382.5(COG8):c.1687_1688del (p.Phe563fs) rs766244312
NM_033028.5(BBS4):c.1248+2T>C rs2151055229
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs) rs1702201097
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs) rs753802842
NM_054012.4(ASS1):c.450_451del (p.Phe150fs) rs786204648
NM_054012.4(ASS1):c.460_467del (p.Phe154fs) rs1004492719
NM_054012.4(ASS1):c.971G>T (p.Gly324Val) rs1554725034
NM_130837.3(OPA1):c.2661+1G>T rs794727392
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter) rs765652131
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs) rs752889346
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) rs1562040783
NM_138694.4(PKHD1):c.126del (p.Phe42fs) rs760586271
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs) rs1554212326
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs) rs1057517394
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.51A>G (p.Ala17=)
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs) rs910497248
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter) rs1057516445
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) rs1057524563
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp) rs193922716
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys) rs193922721
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter) rs376035653
NM_144997.7(FLCN):c.1616dup (p.Ala541fs) rs2144810362
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter) rs1421066733
NM_182760.4(SUMF1):c.279del (p.Ile94fs) rs2125134167
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) rs876661298
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val) rs1005542482
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp) rs149766077
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs) rs1772747408
NM_183065.4(TMEM107):c.*696A>G rs779456932
NM_198428.3(BBS9):c.1277_1280del rs2128646927
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter) rs373938258

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