ClinVar Miner

List of variants reported as likely pathogenic by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1656
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) rs149484917 0.00246
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter) rs576724182 0.00041
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val) rs145068530 0.00028
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_002016.2(FLG):c.94G>T (p.Glu32Ter) rs114733570 0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081 0.00014
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_002016.2(FLG):c.2362C>T (p.Arg788Ter) rs183942200 0.00013
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter) rs779769525 0.00009
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) rs145337602 0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_206933.4(USH2A):c.4397-1G>A rs199982344 0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000275.3(OCA2):c.1503+5G>A rs368124046 0.00008
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806 0.00008
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val) rs373901523 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_001368809.2(AMPD2):c.520G>T (p.Glu174Ter) rs753591864 0.00008
NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del) rs773452586 0.00008
NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His) rs781691587 0.00007
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264 0.00007
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075 0.00006
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874 0.00006
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309 0.00006
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp) rs121908006 0.00006
NM_000049.4(ASPA):c.746A>T (p.Asp249Val) rs104894552 0.00006
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00006
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000098.3(CPT2):c.200C>G (p.Ala67Gly) rs201966320 0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000110.4(DPYD):c.2579del (p.Gln860fs) rs746991079 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) rs190612616 0.00006
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg) rs397508272 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 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_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp) rs559626481 0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
NM_018122.5(DARS2):c.396+2T>G rs759123043 0.00006
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) rs1220930025 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter) rs147717802 0.00006
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) rs764256655 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 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_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000441.2(SLC26A4):c.165-1G>A rs759792660 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_002016.2(FLG):c.7487del (p.Thr2496fs) rs774362740 0.00005
NM_002529.4(NTRK1):c.575-19G>A rs370828525 0.00005
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter) rs184351619 0.00005
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004
NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter) rs1057516968 0.00004
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter) rs759372918 0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) rs568132506 0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu) rs147736385 0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His) rs121918718 0.00004
NM_000359.3(TGM1):c.876+2T>C rs151054393 0.00004
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916 0.00004
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531 0.00004
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) rs149889416 0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile) rs386833744 0.00004
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823 0.00004
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His) rs374324018 0.00004
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719 0.00004
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) rs201948406 0.00004
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met) rs772040483 0.00004
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter) rs760433806 0.00004
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter) rs777181377 0.00004
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter) rs372754256 0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) rs185551386 0.00004
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980 0.00004
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val) rs780761368 0.00004
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_018122.5(DARS2):c.536G>A (p.Arg179His) rs121918210 0.00004
NM_020366.4(RPGRIP1):c.3749-2A>G rs376517859 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) rs771903291 0.00004
NM_206933.4(USH2A):c.1972-1G>A rs372927796 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) rs776668666 0.00003
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718 0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916 0.00003
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu) rs368311455 0.00003
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887 0.00003
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter) rs141597515 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000317.3(PTS):c.84-291A>G rs1480995114 0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr) rs118204448 0.00003
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881 0.00003
NM_000709.4(BCKDHA):c.288+9C>T rs398123497 0.00003
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter) rs751868289 0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys) rs146158333 0.00003
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr) rs770111708 0.00003
NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro) rs762153545 0.00003
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) rs139228801 0.00003
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter) rs145577757 0.00003
NM_002016.2(FLG):c.10225C>T (p.Arg3409Ter) rs201356558 0.00003
NM_002016.2(FLG):c.138+1G>C rs756254959 0.00003
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter) rs121909626 0.00003
NM_002529.4(NTRK1):c.1354+1G>T rs764771898 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter) rs778055996 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_022356.4(P3H1):c.2055+18G>A rs137853890 0.00003
NM_025137.4(SPG11):c.2834+1G>T rs312262749 0.00003
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter) rs778909195 0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) rs398124572 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963 0.00003
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_206933.4(USH2A):c.15297+1G>C rs767630412 0.00003
NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745 0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.9571-2A>G rs751111524 0.00003
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719 0.00002
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338 0.00002
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000049.4(ASPA):c.237-2A>T rs780936696 0.00002
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801 0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120 0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639 0.00002
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353 0.00002
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys) rs80338778 0.00002
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000237.3(LPL):c.347G>A (p.Arg116Gln) rs775728208 0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027 0.00002
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs) rs398122905 0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr) rs199919553 0.00002
NM_000410.4(HFE):c.546_547del (p.Leu183fs) rs765804978 0.00002
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620 0.00002
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761 0.00002
NM_000441.2(SLC26A4):c.55del (p.Ser19fs) rs1057516634 0.00002
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly) rs397508270 0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn) rs397508300 0.00002
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) rs371429653 0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446 0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys) rs145901144 0.00002
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549 0.00002
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070 0.00002
NM_001365999.1(SZT2):c.2363C>G (p.Ser788Ter) rs769366055 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe) rs143960270 0.00002
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser) rs267606948 0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990 0.00002
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val) rs199506378 0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194 0.00002
NM_018136.5(ASPM):c.2419+2T>C rs587783225 0.00002
NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter) rs368482584 0.00002
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766 0.00002
NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter) rs1030149008 0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) rs398124561 0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040 0.00002
NM_206933.4(USH2A):c.10820A>C (p.His3607Pro) rs750321557 0.00002
NM_206933.4(USH2A):c.11048-2A>G rs200871041 0.00002
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765 0.00002
NM_206933.4(USH2A):c.12295-2A>G rs151148854 0.00002
NM_206933.4(USH2A):c.1391G>A (p.Arg464His) rs771000800 0.00002
NM_206933.4(USH2A):c.14792-2A>G rs137853923 0.00002
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met) rs757676723 0.00002
NM_206933.4(USH2A):c.1644+1G>A rs912980910 0.00002
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter) rs757154662 0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) rs201529124 0.00002
NM_206933.4(USH2A):c.6672dup (p.Gly2225fs) rs1284826852 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950 0.00001
NM_000017.4(ACADS):c.107dup (p.Thr37fs) rs750941135 0.00001
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) rs147442301 0.00001
NM_000017.4(ACADS):c.1A>G (p.Met1Val) rs1291226969 0.00001
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer) rs1346829948 0.00001
NM_000017.4(ACADS):c.596C>T (p.Ala199Val) rs766579880 0.00001
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser) rs746368198 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.467G>A (p.Arg156His) rs121908722 0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016 0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000023.4(SGCA):c.748-2A>T rs1412537279 0.00001
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931 0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847 0.00001
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys) rs779440632 0.00001
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr) rs769653717 0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His) rs770706390 0.00001
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402 0.00001
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp) rs374172791 0.00001
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr) rs767218895 0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756 0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997 0.00001
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr) rs778163447 0.00001
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884 0.00001
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val) rs1395504465 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491 0.00001
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789 0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396 0.00001
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp) rs779494870 0.00001
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter) rs1412593296 0.00001
NM_000069.3(CACNA1S):c.1233-1G>A rs760082356 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter) rs367983954 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231 0.00001
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295 0.00001
NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter) rs755395180 0.00001
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329 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_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226 0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177 0.00001
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674 0.00001
NM_000098.3(CPT2):c.75del (p.Ser26fs) rs1057517493 0.00001
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer) rs1207177925 0.00001
NM_000110.4(DPYD):c.1863G>A (p.Trp621Ter) rs1057516388 0.00001
NM_000110.4(DPYD):c.3G>A (p.Met1Ile) rs768020954 0.00001
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter) rs72549310 0.00001
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter) rs146170505 0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val) rs121965071 0.00001
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser) rs892129065 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.952A>T (p.Met318Leu) rs886044506 0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile) rs869312438 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189 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_000275.3(OCA2):c.1000G>A (p.Ala334Thr) rs1456118236 0.00001
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) rs768934658 0.00001
NM_000277.3(PAH):c.505C>T (p.Arg169Cys) rs281865440 0.00001
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys) rs543521135 0.00001
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser) rs904122716 0.00001
NM_000359.3(TGM1):c.1420C>T (p.Pro474Ser) rs1202280089 0.00001
NM_000359.3(TGM1):c.1645+1G>T rs774242987 0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522 0.00001
NM_000359.3(TGM1):c.401A>G (p.Tyr134Cys) rs147916609 0.00001
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys) rs121918716 0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His) rs121918719 0.00001
NM_000359.3(TGM1):c.579G>A (p.Trp193Ter) rs199678720 0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp) rs201868387 0.00001
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys) rs397514525 0.00001
NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr) rs61754386 0.00001
NM_000372.5(TYR):c.116G>A (p.Trp39Ter) rs775683960 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328 0.00001
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp) rs371277428 0.00001
NM_000396.4(CTSK):c.289_290del (p.Leu97fs) rs773943327 0.00001
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro) rs29001685 0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) rs142498437 0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416 0.00001
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) rs786204426 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000496.3(CRYBB2):c.173C>T (p.Pro58Leu) rs763268420 0.00001
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.1480A>G (p.Met494Val) rs1401175486 0.00001
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr) rs1404888504 0.00001
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg) rs1478665723 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598 0.00001
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu) rs772413313 0.00001
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser) rs747805226 0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys) rs752039956 0.00001
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp) rs775300515 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) rs112431538 0.00001
NM_000548.5(TSC2):c.4570-1G>A rs777985056 0.00001
NM_000642.3(AGL):c.2309-2A>G rs1253347170 0.00001
NM_000642.3(AGL):c.3259+1G>A rs1394576194 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter) rs145362161 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_001042492.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730 0.00001
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp) rs199474732 0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) rs747249619 0.00001
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu) rs772589653 0.00001
NM_001182.5(ALDH7A1):c.1565+1G>T rs1064793830 0.00001
NM_001182.5(ALDH7A1):c.246+1G>A rs764588746 0.00001
NM_001182.5(ALDH7A1):c.312+1G>A rs199497486 0.00001
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter) rs758748280 0.00001
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter) rs776874142 0.00001
NM_001232.4(CASQ2):c.939+1G>T rs905985075 0.00001
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln) rs749547712 0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter) rs767220480 0.00001
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) rs397516455 0.00001
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) rs121964856 0.00001
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) rs727504331 0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) rs121908429 0.00001
NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter) rs761810492 0.00001
NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter) rs764896693 0.00001
NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter) rs1654854600 0.00001
NM_001365999.1(SZT2):c.9775C>T (p.Arg3259Ter) rs1005930319 0.00001
NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs) rs770283117 0.00001
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His) rs587777395 0.00001
NM_001377299.1(NDUFS2):c.1237T>C (p.Ser413Pro) rs121434429 0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr) rs1449113689 0.00001
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter) rs767760099 0.00001
NM_001918.5(DBT):c.1430T>G (p.Met477Arg) rs398123662 0.00001
NM_001918.5(DBT):c.206T>C (p.Leu69Pro) rs1663813561 0.00001
NM_002016.2(FLG):c.4808_4812dup (p.Glu1605fs) rs775716153 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro) rs747711259 0.00001
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys) rs386134218 0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734 0.00001
NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg) rs1408166345 0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222 0.00001
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys) rs749282641 0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) rs727504159 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.455G>A (p.Gly152Asp) rs747821417 0.00001
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser) rs386134198 0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888 0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn) rs772578415 0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710 0.00001
NM_005957.5(MTHFR):c.1033C>T (p.Arg345Cys) rs759031330 0.00001
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211 0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386 0.00001
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) rs28940280 0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100 0.00001
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val) rs753161833 0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568 0.00001
NM_006623.4(PHGDH):c.357-1G>A rs766427173 0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196 0.00001
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter) rs1057516910 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs) rs1057516625 0.00001
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter) rs769212398 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024 0.00001
NM_014625.4(NPHS2):c.138_142dup (p.Ser48fs) rs1057516747 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014625.4(NPHS2):c.535-1G>T rs1291398331 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_014625.4(NPHS2):c.873+2T>A rs967339926 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.6897dup (p.Phe2300fs) rs1331217337 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428 0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs) rs768978351 0.00001
NM_018122.5(DARS2):c.493-1G>C rs771905691 0.00001
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter) rs748529285 0.00001
NM_018136.5(ASPM):c.2488-1G>C rs1321892596 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_018489.3(ASH1L):c.5269C>T (p.Arg1757Ter) rs1662320308 0.00001
NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter) rs752575140 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_025137.4(SPG11):c.4075del (p.Ile1359fs) rs1405032433 0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852 0.00001
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506 0.00001
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val) rs776631396 0.00001
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys) rs398124580 0.00001
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr) rs398124582 0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603 0.00001
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro) rs769909288 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 0.00001
NM_201253.3(CRB1):c.997G>C (p.Gly333Arg) rs778232235 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.10586-2A>G rs370327669 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265 0.00001
NM_206933.4(USH2A):c.11389+1G>T rs368770647 0.00001
NM_206933.4(USH2A):c.11389+3A>T rs753886165 0.00001
NM_206933.4(USH2A):c.11473del (p.His3825fs) rs774677256 0.00001
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp) rs1431048303 0.00001
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976 0.00001
NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter) rs1262416703 0.00001
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289 0.00001
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg) rs397517982 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.13811+1G>A rs1177257719 0.00001
NM_206933.4(USH2A):c.14134-3169A>G rs998302546 0.00001
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser) rs1254637647 0.00001
NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter) rs1656936749 0.00001
NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys) rs756570931 0.00001
NM_206933.4(USH2A):c.14791+5G>T rs1235430504 0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NM_206933.4(USH2A):c.15200del (p.Ile5067fs) rs1295968274 0.00001
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val) rs1415484067 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter) rs886039449 0.00001
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys) rs775177930 0.00001
NM_206933.4(USH2A):c.3812-2A>G rs758733024 0.00001
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter) rs745350407 0.00001
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro) rs1162305984 0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754 0.00001
NM_206933.4(USH2A):c.5278del (p.Asp1760fs) rs754374132 0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) rs770329105 0.00001
NM_206933.4(USH2A):c.5572+1G>A rs775293551 0.00001
NM_206933.4(USH2A):c.5573-834A>G rs1558244152 0.00001
NM_206933.4(USH2A):c.6050-1G>A rs1035024403 0.00001
NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter) rs769609970 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.7300+1G>C rs1343780391 0.00001
NM_206933.4(USH2A):c.7594+2del rs762608746 0.00001
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys) rs1424639717 0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134 0.00001
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910 0.00001
NM_206933.4(USH2A):c.8681+1G>A rs876657733 0.00001
NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys) rs1369414978 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser) rs748465849 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser) rs202124189
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000018.4(ACADVL):c.441del (p.Ser148fs) rs2142969688
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter) rs763372958
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe) rs1555568335
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.61_62insG (p.Thr21fs) rs2144493097
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000023.4(SGCA):c.956+2_956+19del rs1555569342
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro) rs1557054173
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) rs1569540693
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser) rs1557052390
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter) rs1557052555
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000046.5(ARSB):c.409G>A (p.Gly137Ser) rs2112530008
NM_000048.4(ASL):c.426del (p.Met143fs) rs2115700686
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000051.4(ATM):c.4741del (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.8207_8211del (p.Asn2736fs) rs2136696317
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.4(ATP7B):c.2121+3A>G rs1248002612
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg) rs1394999756
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg) rs121907997
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu) rs1057516844
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) rs1455758826
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro) rs587783307
NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr) rs747584649
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs) rs1555287300
NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys) rs949421614
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) rs376910645
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe) rs1064797072
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro) rs1555285891
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala) rs1387431334
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val) rs1555283994
NM_000053.4(ATP7B):c.3752del (p.Lys1251fs) rs2138586206
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln) rs758355520
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly) rs778914828
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val) rs1340942427
NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser) rs778732681
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser) rs587783317
NM_000057.4(BLM):c.3438_3439del (p.Phe1146fs) rs2151194257
NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs) rs2102144416
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) rs1572048220
NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr) rs1287079817
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) rs1572038993
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000069.3(CACNA1S):c.4113+1G>C rs1558056376
NM_000069.3(CACNA1S):c.4543+2T>C rs1572023336
NM_000069.3(CACNA1S):c.4798-2A>G rs1428157373
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu) rs1114167371
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs) rs754363068
NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter) rs1057517492
NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter) rs1057517525
NM_000098.3(CPT2):c.1569_1570del (p.His523fs) rs1572385947
NM_000098.3(CPT2):c.1608dup (p.Lys537fs) rs1553169813
NM_000098.3(CPT2):c.1767del (p.Ser590fs) rs1553169973
NM_000098.3(CPT2):c.1784del (p.Pro595fs) rs760255368
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs) rs908749525
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer) rs1553170029
NM_000098.3(CPT2):c.38_39del (p.Gly13fs) rs2100254724
NM_000098.3(CPT2):c.38del (p.Gly13fs) rs786204647
NM_000098.3(CPT2):c.520G>T (p.Glu174Ter) rs28936674
NM_000098.3(CPT2):c.627_630dup (p.Pro211fs) rs1553169629
NM_000098.3(CPT2):c.670del (p.Thr224fs) rs762366252
NM_000098.3(CPT2):c.748_749del (p.Asn250fs) rs1187631754
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000098.3(CPT2):c.989dup (p.Ile332fs) rs1553169716
NM_000104.4(CYP1B1):c.1081G>T (p.Asp361Tyr) rs906925939
NM_000110.3(DPYD):c.1977_1983delTTCTGGA rs1440380546
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs) rs749571474
NM_000110.4(DPYD):c.1379dup (p.Leu461fs) rs779948148
NM_000110.4(DPYD):c.1905+1G>C rs3918290
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs) rs773499329
NM_000110.4(DPYD):c.233+1G>T rs1553247675
NM_000110.4(DPYD):c.2622+1G>A rs1057517095
NM_000124.4(ERCC6):c.3778+1G>A rs1554875114
NM_000137.4(FAH):c.615del (p.Phe205fs) rs1057517084
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) rs398123172
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000154.2(GALK1):c.460C>T (p.Gln154Ter) rs2143603585
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu) rs369068553
NM_000157.4(GBA1):c.533del (p.Pro178fs) rs397518434
NM_000169.3(GLA):c.1018T>C (p.Trp340Arg) rs1555984869
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.3(GLA):c.109G>C (p.Ala37Pro) rs869312226
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.3(GLA):c.119C>T (p.Pro40Leu) rs398123199
NM_000169.3(GLA):c.1285del (p.Leu429fs) rs1555984717
NM_000169.3(GLA):c.153G>A (p.Met51Ile) rs869312255
NM_000169.3(GLA):c.274G>T (p.Asp92Tyr) rs886041315
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.604T>C (p.Cys202Arg) rs1569303843
NM_000169.3(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.3(GLA):c.607G>A (p.Glu203Lys) rs869312345
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.770C>T (p.Ala257Val) rs1569303218
NM_000169.3(GLA):c.782G>T (p.Gly261Val) rs869312401
NM_000169.3(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000169.3(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000186.4(CFH):c.694C>T (p.Arg232Ter) rs755790570
NM_000191.3(HMGCL):c.230del (p.Val77fs) rs1638632303
NM_000191.3(HMGCL):c.562-2A>G rs1553131955
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) rs398123244
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) rs193302904
NM_000202.8(IDS):c.670G>A (p.Gly224Arg) rs2089450754
NM_000202.8(IDS):c.692C>G (p.Pro231Arg) rs2089450305
NM_000228.3(LAMB3):c.2011del (p.Leu671fs) rs1057516822
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000271.5(NPC1):c.1114_1115insT (p.Arg372fs) rs2145457097
NM_000271.5(NPC1):c.1293del (p.Phe431fs) rs2145455429
NM_000271.5(NPC1):c.1433A>C (p.Asn478Thr) rs2145447716
NM_000271.5(NPC1):c.839del (p.Leu280fs) rs1057518711
NM_000275.3(OCA2):c.1860G>C (p.Gly620=) rs2140619474
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000277.3(PAH):c.305T>C (p.Ile102Thr) rs62508591
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000317.3(PTS):c.166GTG[1] (p.Val57del) rs770387277
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.244-1G>T rs1555198451
NM_000317.3(PTS):c.281A>G (p.Asp94Gly) rs1057517811
NM_000317.3(PTS):c.400G>T (p.Glu134Ter) rs779681799
NM_000317.3(PTS):c.83+1G>A rs927103678
NM_000337.6(SGCD):c.192+1G>A rs1267810339
NM_000337.6(SGCD):c.294+1G>A rs727503422
NM_000337.6(SGCD):c.390del (p.Ala131fs) rs397517921
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000359.3(TGM1):c.1160-2_1160-1del rs1555306117
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu) rs121918721
NM_000359.3(TGM1):c.400T>C (p.Tyr134His) rs1230140208
NM_000359.3(TGM1):c.679C>T (p.Gln227Ter) rs972054392
NM_000359.3(TGM1):c.802del (p.Val268fs) rs1322979131
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000360.4(TH):c.1002del (p.His335fs) rs2133692304
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000368.5(TSC1):c.737+3A>G rs118203439
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter) rs1590902378
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.661G>A (p.Glu221Lys) rs758115945
NM_000372.5(TYR):c.757G>A (p.Gly253Arg) rs61754369
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000396.4(CTSK):c.121-2A>G rs1057516587
NM_000396.4(CTSK):c.213T>A (p.Tyr71Ter) rs780202604
NM_000396.4(CTSK):c.244-29A>G rs1654085401
NM_000396.4(CTSK):c.3G>A (p.Met1Ile) rs778368118
NM_000396.4(CTSK):c.400-1G>C rs1553197262
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter) rs202040269
NM_000396.4(CTSK):c.658A>T (p.Lys220Ter)
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) rs74315303
NM_000396.4(CTSK):c.784+1G>A rs1553196934
NM_000396.4(CTSK):c.826del (p.His276fs) rs1553196906
NM_000396.4(CTSK):c.876G>A (p.Trp292Ter) rs1553196900
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter) rs375958814
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter) rs121908361
NM_000441.2(SLC26A4):c.1222del (p.Ser408fs) rs886043058
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter) rs1554359693
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter) rs201636911
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala) rs727505088
NM_000441.2(SLC26A4):c.1544+1G>A rs876657722
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) rs727503428
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile) rs1057516243
NM_000441.2(SLC26A4):c.1614+1G>C rs111033312
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) rs786204523
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter) rs727503431
NM_000441.2(SLC26A4):c.304+2T>C rs746238617
NM_000441.2(SLC26A4):c.737del (p.Asn246fs) rs918684449
NM_000441.2(SLC26A4):c.765+2T>C rs397516432
NM_000441.2(SLC26A4):c.890del (p.Pro297fs) rs786204600
NM_000455.5(STK11):c.169dup (p.Glu57fs) rs121913319
NM_000455.5(STK11):c.179dup (p.Tyr60Ter) rs876661012
NM_000455.5(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.5(STK11):c.358G>T (p.Glu120Ter) rs775595174
NM_000455.5(STK11):c.481A>T (p.Ile161Phe) rs1131690938
NM_000455.5(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.5(STK11):c.543C>G (p.Asn181Lys) rs730881973
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.5(STK11):c.719C>G (p.Ser240Trp) rs730881976
NM_000455.5(STK11):c.725G>A (p.Gly242Glu) rs1568708382
NM_000455.5(STK11):c.869T>C (p.Leu290Pro) rs1057524439
NM_000455.5(STK11):c.921-1G>C rs398123406
NM_000455.5(STK11):c.923G>A (p.Trp308Ter) rs864622488
NM_000466.3(PEX1):c.1533del (p.Asp512fs) rs2116205361
NM_000466.3(PEX1):c.1890del (p.Ala631fs) rs2116175944
NM_000466.3(PEX1):c.1927del (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter) rs1306607552
NM_000487.6(ARSA):c.545del (p.Pro182fs) rs1057516907
NM_000492.4(CFTR):c.1505T>A (p.Ile502Asn) rs397508222
NM_000492.4(CFTR):c.164+2dup rs1554375870
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.4(CFTR):c.1826A>T (p.His609Leu) rs397508310
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.598T>A (p.Phe200Ile) rs397508766
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.122T>A (p.Met41Lys) rs1555523411
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu) rs2143005523
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys) rs398123435
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu) rs1209154325
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.425A>G (p.His142Arg) rs1288895691
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000521.4(HEXB):c.806del (p.Asn269fs) rs2112171738
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn) rs200533979
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter) rs2024014272
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter) rs121434332
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro) rs1555706137
NM_000529.2(MC2R):c.676G>C (p.Gly226Arg) rs761911005
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe) rs1569282905
NM_000536.4(RAG2):c.302del (p.Asn101fs) rs2133315462
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) rs797044797
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000546.6(TP53):c.1000G>T (p.Gly334Trp) rs730882028
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.6(TP53):c.1010G>T (p.Arg337Leu) rs121912664
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_000546.6(TP53):c.1101-1G>A rs876658982
NM_000546.6(TP53):c.1101-2A>G rs587781664
NM_000546.6(TP53):c.273_279del (p.Trp91fs) rs1064796124
NM_000546.6(TP53):c.313G>A (p.Gly105Ser) rs1060501195
NM_000546.6(TP53):c.313G>C (p.Gly105Arg) rs1060501195
NM_000546.6(TP53):c.322_339del (p.Gly108_Phe113del) rs886039495
NM_000546.6(TP53):c.327_328del (p.Phe109fs) rs1064795434
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.375+1G>A rs1567555445
NM_000546.6(TP53):c.375+1G>C rs1567555445
NM_000546.6(TP53):c.375+1G>T rs1567555445
NM_000546.6(TP53):c.375+1dup rs1555526470
NM_000546.6(TP53):c.375+2T>A rs1555526469
NM_000546.6(TP53):c.375+2T>C rs1555526469
NM_000546.6(TP53):c.376-2A>G rs786202799
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.455C>G (p.Pro152Arg) rs587782705
NM_000546.6(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.6(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu) rs1567553501
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.6(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.524G>T (p.Arg175Leu) rs28934578
NM_000546.6(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_000546.6(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.6(TP53):c.542G>C (p.Arg181Pro) rs397514495
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.559+1G>T rs1131691042
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.672+1G>T rs863224499
NM_000546.6(TP53):c.672G>A (p.Glu224=) rs267605076
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.6(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) rs1567549584
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.737T>A (p.Met246Lys) rs587780074
NM_000546.6(TP53):c.75-2A>G rs1131691020
NM_000546.6(TP53):c.751A>C (p.Ile251Leu) rs730882007
NM_000546.6(TP53):c.761TCA[1] (p.Ile255del) rs1064794309
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.6(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_000546.6(TP53):c.827C>A (p.Ala276Asp) rs786202082
NM_000546.6(TP53):c.827_853del (p.Ala276_Thr284del) rs2151015346
NM_000546.6(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer) rs2073171970
NM_000546.6(TP53):c.892del (p.Glu298fs) rs2073177507
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000546.6(TP53):c.949C>T (p.Gln317Ter) rs764735889
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000546.6(TP53):c.993G>A (p.Gln331=) rs11575996
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr) rs45486196
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.2772del (p.Phe924fs) rs1555508938
NM_000548.5(TSC2):c.2859dup (p.Lys954fs) rs796053504
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3284+1G>A rs45517289
NM_000548.5(TSC2):c.336+5G>C rs1057523242
NM_000548.5(TSC2):c.3610+1G>T rs45517299
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs) rs1555512486
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000548.5(TSC2):c.4005+1G>T rs45517324
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys) rs45517355
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) rs45483392
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) rs45517398
NM_000548.5(TSC2):c.5212del (p.Ser1738fs) rs1596460606
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000548.5(TSC2):c.5422_5423del (p.Ter1808ArgextTer?) rs137854027
NM_000548.5(TSC2):c.849-1G>A rs45506396
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs) rs1057516741
NM_000642.3(AGL):c.1423+1G>T rs751952198
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter) rs140095668
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs) rs1652003965
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.2158-2A>G rs878959417
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs) rs1553186613
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer) rs767346840
NM_000642.3(AGL):c.2538dup (p.Ile847fs) rs1057516984
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter) rs1057516254
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter) rs767529587
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter) rs1652877420
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.2949+2T>A rs750492389
NM_000642.3(AGL):c.2950-2A>C rs770438130
NM_000642.3(AGL):c.3362+1G>A rs1553189468
NM_000642.3(AGL):c.3589-1G>A rs1289339080
NM_000642.3(AGL):c.3772_3776del (p.Thr1258fs) rs2100849229
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter) rs1057517017
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3911del (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter) rs762602838
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer) rs1293077915
NM_000642.3(AGL):c.4323del (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter) rs1553193486
NM_000642.3(AGL):c.454G>T (p.Glu152Ter) rs1650125542
NM_000642.3(AGL):c.460+1G>A rs930434905
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000642.3(AGL):c.664+1G>A rs61811105
NM_000642.3(AGL):c.861_864del (p.Ile288fs) rs1571243699
NM_000709.4(BCKDHA):c.1115del (p.Gly372fs) rs2122146680
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro) rs755691417
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) rs398123498
NM_001005273.3(CHD3):c.2746C>T (p.Gln916Ter) rs2151573039
NM_001006658.3(CR2):c.623_624del (p.Pro208fs) rs747832403
NM_001006658.3(CR2):c.624dup (p.Thr209fs) rs747832403
NM_001042432.2(CLN3):c.461-3C>G rs181995380
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1063-1G>C rs1555610955
NM_001042492.3(NF1):c.1073_1074insA (p.Phe358fs) rs1555610971
NM_001042492.3(NF1):c.1185G>A (p.Lys395=) rs1567835847
NM_001042492.3(NF1):c.1186-1G>T rs876660782
NM_001042492.3(NF1):c.1260+2T>C rs1555611110
NM_001042492.3(NF1):c.1260+2T>G rs1555611110
NM_001042492.3(NF1):c.1261-19G>A rs1597688663
NM_001042492.3(NF1):c.1393-2A>G rs1555612266
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_001042492.3(NF1):c.1527+1159C>T rs878853868
NM_001042492.3(NF1):c.1527+4_1527+7del rs1555612294
NM_001042492.3(NF1):c.1607C>G (p.Ser536Ter) rs1555612859
NM_001042492.3(NF1):c.1641+1G>A rs1555612866
NM_001042492.3(NF1):c.1641+2T>C rs1555612867
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_001042492.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_001042492.3(NF1):c.1738del (p.Tyr580fs) rs786204255
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.188del (p.Lys63fs) rs1555604939
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_001042492.3(NF1):c.2251+1G>C rs1555613843
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg) rs1567847681
NM_001042492.3(NF1):c.2252-1G>C rs587781577
NM_001042492.3(NF1):c.2252-2A>G rs1131691105
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_001042492.3(NF1):c.2326-1G>C rs1567848100
NM_001042492.3(NF1):c.2326-2A>G rs1555613975
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser) rs199474745
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter) rs1555613983
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys) rs199474778
NM_001042492.3(NF1):c.2410-13A>G rs1567848711
NM_001042492.3(NF1):c.2410-16A>G rs1567848704
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg) rs1060500368
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_001042492.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser) rs1135402831
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp) rs1597629882
NM_001042492.3(NF1):c.2835del (p.Phe945fs) rs1567849208
NM_001042492.3(NF1):c.288+5G>A rs1555605409
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys) rs1555614462
NM_001042492.3(NF1):c.2991-2A>G rs1555614495
NM_001042492.3(NF1):c.2991G>T (p.Arg997Ser) rs755501749
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro) rs1131691112
NM_001042492.3(NF1):c.3047G>A (p.Cys1016Tyr) rs2067091492
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3114-1G>A rs1555614611
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_001042492.3(NF1):c.3198-314G>A rs2067116490
NM_001042492.3(NF1):c.3239T>C (p.Leu1080Pro) rs1555614833
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg) rs1164081667
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs) rs1555614866
NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter) rs876659289
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3447G>C (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_001042492.3(NF1):c.3497-1G>A rs1555615004
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile) rs1555615047
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr) rs863224447
NM_001042492.3(NF1):c.412G>C (p.Ala138Pro) rs1597635936
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val) rs199474789
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.3(NF1):c.4332G>C (p.Lys1444Asn) rs199474750
NM_001042492.3(NF1):c.4339C>T (p.Gln1447Ter) rs1135402857
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro) rs786204157
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His) rs876660206
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys) rs754639587
NM_001042492.3(NF1):c.4431-9T>G rs1597746884
NM_001042492.3(NF1):c.4520del (p.Leu1507fs) rs2151464729
NM_001042492.3(NF1):c.4532T>C (p.Leu1511Pro) rs1135402864
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg) rs1135402865
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu) rs1567863004
NM_001042492.3(NF1):c.4578-20_4578-18del rs1597748617
NM_001042492.3(NF1):c.479+1G>T rs1555606137
NM_001042492.3(NF1):c.4835+1G>T rs1085307819
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp) rs1567611231
NM_001042492.3(NF1):c.4998del (p.Pro1667fs) rs1135402867
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly) rs797045139
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.5662del (p.Ile1888fs) rs2069449497
NM_001042492.3(NF1):c.5668G>C (p.Gly1890Arg) rs1597834706
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro) rs1555533875
NM_001042492.3(NF1):c.5788T>C (p.Cys1930Arg) rs2069454402
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg) rs199474791
NM_001042492.3(NF1):c.587-2A>G rs1057518360
NM_001042492.3(NF1):c.58C>T (p.Gln20Ter) rs1567786905
NM_001042492.3(NF1):c.60+1G>C rs1555594500
NM_001042492.3(NF1):c.60+2del rs1131691101
NM_001042492.3(NF1):c.60G>C (p.Gln20His) rs1911559787
NM_001042492.3(NF1):c.6428-3C>G rs374014162
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs) rs1135402888
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg) rs1060500342
NM_001042492.3(NF1):c.6705-3C>A rs1131691079
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs) rs1555535027
NM_001042492.3(NF1):c.6921+3A>G rs1085307885
NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn) rs1057523533
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.730+1G>T rs1060500274
NM_001042492.3(NF1):c.7970+5G>T rs1567627286
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter) rs1555608970
NM_001042492.3(NF1):c.8160+1G>A rs1555537032
NM_001042492.3(NF1):c.889-1G>A rs587781517
NM_001042492.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_001042492.3:c.7317AGC[1]
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter) rs1571046959
NM_001126108.2(SLC12A3):c.184G>A (p.Asp62Asn) rs757490496
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg) rs1554756114
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp) rs2131953982
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001142800.2(EYS):c.2993-2A>G rs2150022860
NM_001142800.2(EYS):c.7196del (p.Pro2399fs) rs2149709684
NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe) rs186558364
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) rs387906574
NM_001182.5(ALDH7A1):c.247-1G>C rs1060502949
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs) rs758414053
NM_001182.5(ALDH7A1):c.394-1G>C rs1064794053
NM_001182.5(ALDH7A1):c.859C>T (p.Gln287Ter) rs1204010423
NM_001184.4(ATR):c.2320dup (p.Ile774fs) rs757500301
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.2094C>A (p.Phe698Leu) rs1445829303
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter) rs756636650
NM_001232.4(CASQ2):c.213del (p.Gln71fs) rs786205799
NM_001232.4(CASQ2):c.235-2A>G rs1060502164
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) rs775663612
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_001232.4(CASQ2):c.606+1G>C rs786205791
NM_001232.4(CASQ2):c.939+5G>C rs746128346
NM_001232.4(CASQ2):c.940-1G>T rs876657635
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001276345.2(TNNT2):c.274G>A (p.Gly92Arg) rs727504255
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) rs727503513
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro) rs397516464
NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly) rs45525839
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001276345.2(TNNT2):c.851+1G>A rs111377893
NM_001276345.2(TNNT2):c.851+1G>T rs111377893
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter) rs730881116
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) rs606231158
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) rs606231157
NM_001365999.1(SZT2):c.1091-1G>A rs1652173183
NM_001365999.1(SZT2):c.153+1G>A rs1649902998
NM_001365999.1(SZT2):c.5088+2T>C rs552956642
NM_001365999.1(SZT2):c.6139C>T (p.Arg2047Ter) rs766341332
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001367561.1(DOCK7):c.1285C>T (p.Arg429Ter) rs1057520100
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter) rs758111714
NM_001369.3(DNAH5):c.5194del (p.Ala1732fs) rs2151870249
NM_001369.3(DNAH5):c.5689del (p.Arg1897fs) rs2151860024
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter) rs1553653062
NM_001370658.1(BTD):c.333del (p.Phe111fs) rs397514356
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter) rs1779032666
NM_001374828.1(ARID1B):c.2582-2A>C rs1057524160
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs) rs1553421626
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001384474.1(LOXHD1):c.1286del (p.Leu429fs) rs2144243196
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001918.5(DBT):c.1165_1166del (p.Thr388_Thr389insTer) rs1553229661
NM_001918.5(DBT):c.442G>T (p.Glu148Ter) rs1570820579
NM_001918.5(DBT):c.634C>T (p.Gln212Ter) rs1553230841
NM_001918.5(DBT):c.820C>A (p.Pro274Thr) rs1310427311
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.1714C>T (p.Arg572Ter) rs200601767
NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs) rs761519693
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002016.2(FLG):c.7945del (p.Ser2649fs) rs538406713
NM_002340.6(LSS):c.429-1G>A rs2123758710
NM_002485.5(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter) rs1563516254
NM_002485.5(NBN):c.1911_1914+1del rs1554556880
NM_002485.5(NBN):c.1914+2_1914+3del rs1586043528
NM_002485.5(NBN):c.2070+1G>A rs1554556454
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.5(NBN):c.38-2A>G rs771475965
NM_002529.4(NTRK1):c.1196-1G>A rs764171953
NM_002529.4(NTRK1):c.1196-3_1196-1del rs1558104865
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr) rs80356677
NM_002529.4(NTRK1):c.2169C>A (p.Tyr723Ter) rs140852621
NM_002529.4(NTRK1):c.2231del (p.Arg744fs)
NM_002529.4(NTRK1):c.360-2A>C rs797045059
NM_002529.4(NTRK1):c.429-1G>A rs748672380
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del) rs386134215
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg) rs386134221
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His) rs386134223
NM_003060.4(SLC22A5):c.1595_1604dup (p.Pro536fs) rs796052040
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val) rs72552728
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg) rs201262157
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003072.5(SMARCA4):c.4213C>T (p.Arg1405Trp) rs1057518049
NM_003640.5(ELP1):c.3956del (p.Lys1319fs) rs2118907171
NM_004425.4(ECM1):c.233del (p.Pro78fs) rs768474010
NM_004629.2(FANCG):c.1027C>T (p.Gln343Ter) rs1829085768
NM_004629.2(FANCG):c.842del (p.Pro281fs) rs2131055994
NM_004646.4(NPHS1):c.2177del (p.Gly726fs) rs2146821851
NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter) rs1648636515
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1310T>A (p.Ile437Asn) rs397517150
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.4(SOS1):c.2207T>G (p.Ile736Arg) rs1553354396
NM_005633.4(SOS1):c.305C>G (p.Pro102Arg) rs1553362937
NM_006031.6(PCNT):c.9417C>G (p.Tyr3139Ter) rs2148093265
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.981del (p.Phe327fs) rs2154035202
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) rs386833968
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His) rs776095655
NM_006516.4(SLC2A1):c.1264T>C (p.Phe422Leu) rs1570590834
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr) rs1643481875
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr) rs1553157935
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser) rs1057518953
NM_006516.4(SLC2A1):c.458G>C (p.Arg153Pro) rs794727642
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu) rs794727642
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg) rs1345986424
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter) rs1057521967
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His) rs886039517
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) rs387907313
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del) rs2124448824
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile) rs80359824
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu) rs796053253
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=) rs796053254
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006623.4(PHGDH):c.1078+1G>A rs1224279673
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
NM_006623.4(PHGDH):c.290+2T>C rs886041874
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr) rs951372478
NM_006623.4(PHGDH):c.412-1G>C rs1651455730
NM_006623.4(PHGDH):c.901del (p.Val301fs) rs1571013274
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly) rs1673399238
NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_012144.4(DNAI1):c.1311+2T>C rs1587085165
NM_012434.5(SLC17A5):c.1111+1G>T rs777862172
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs) rs1057517119
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_012478.4(WBP2):c.161C>G (p.Pro54Arg) rs770968991
NM_014225.6(PPP2R1A):c.352G>A (p.Glu118Lys) rs2089667956
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs) rs1555250082
NM_014363.6(SACS):c.11282del (p.Leu3761fs) rs2137567996
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12980del (p.Lys4327fs) rs1555249371
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs) rs1167474602
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter) rs144267558
NM_014363.6(SACS):c.382_383del (p.Glu128fs) rs757179309
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs) rs1555252349
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs) rs1555252086
NM_014363.6(SACS):c.5744_5745del (p.His1915fs) rs1057517138
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.7139del (p.Asn2380fs) rs1057516689
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7788del (p.Phe2596fs) rs1057516959
NM_014363.6(SACS):c.7844del (p.Asn2615fs) rs758572409
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) rs876657721
NM_014625.4(NPHS2):c.1032del (p.Phe344fs) rs1673229720
NM_014625.4(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_014625.4(NPHS2):c.451+2T>A rs786204708
NM_014625.4(NPHS2):c.452del rs1250670041
NM_014625.4(NPHS2):c.502C>T (p.Arg168Cys) rs786204583
NM_014625.4(NPHS2):c.586C>T (p.Arg196Ter) rs12568913
NM_014625.4(NPHS2):c.685C>T (p.Arg229Ter) rs1057516414
NM_014625.4(NPHS2):c.714G>C (p.Arg238Ser) rs748812981
NM_014625.4(NPHS2):c.738+1G>A rs1673954981
NM_014625.4(NPHS2):c.738+2T>C rs1212702104
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
NM_014625.4(NPHS2):c.859C>T (p.Gln287Ter) rs1057517164
NM_014625.4(NPHS2):c.874-1G>A rs776016942
NM_014625.4(NPHS2):c.874-2A>C rs1031744496
NM_014625.4(NPHS2):c.928G>A (p.Glu310Lys) rs1673254835
NM_014625.4(NPHS2):c.95_96insTA (p.Gly33fs) rs1057516880
NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter) rs763818901
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) rs797045068
NM_015046.7(SETX):c.6729_6730del (p.His2243fs) rs752122764
NM_015100.4(POGZ):c.2520_2521del (p.His840fs) rs886042027
NM_015100.4(POGZ):c.2849dup (p.Val951fs) rs1653560615
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015100.4(POGZ):c.3041del (p.Gln1014fs) rs796052217
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter) rs773311942
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) rs201777449
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr) rs574983400
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg) rs574983400
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs) rs2149323805
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter) rs1002571805
NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys) rs1002571805
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) rs370596113
NM_015506.3(MMACHC):c.497dup (p.Pro167fs) rs1481893137
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.626_627del (p.Val209fs) rs1356587420
NM_015506.3(MMACHC):c.81+2T>G rs777251123
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) rs771673343
NM_015506.3:c.275_278del
NM_015602.4(TOR1AIP1):c.961C>T (p.Arg321Ter) rs11581962
NM_015627.3(LDLRAP1):c.112_113del (p.Thr38fs) rs763778803
NM_015627.3(LDLRAP1):c.344+1G>A rs545662810
NM_015627.3(LDLRAP1):c.533-1G>A rs762148512
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs) rs1201229554
NM_016277.5(RAB23):c.559del (p.Ser187fs) rs2127997645
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter) rs933106143
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.3082+1G>C rs886041709
NM_018136.5(ASPM):c.3282_3285del (p.Asn1095fs) rs1240081512
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter) rs2125096196
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer) rs1334301723
NM_018136.5(ASPM):c.6854_6855del (p.Leu2285fs) rs587783259
NM_018136.5(ASPM):c.6916_6919del (p.Leu2306fs) rs1064795945
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs) rs587783265
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.9324del (p.Leu3109fs) rs1163303148
NM_018489.3(ASH1L):c.2134dup (p.Arg712fs) rs1558150870
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs) rs1665684529
NM_019032.6(ADAMTSL4):c.1143del (p.Glu382fs) rs1461665171
NM_019032.6(ADAMTSL4):c.2021_2022del (p.Ser674fs) rs757032537
NM_019032.6(ADAMTSL4):c.2270del (p.Gly757fs) rs747160538
NM_020366.4(RPGRIP1):c.906+2T>G rs1594180201
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs) rs1674480467
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln) rs1057521041
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) rs761820222
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter) rs1674313030
NM_020699.4(GATAD2B):c.597+1G>A rs1570929867
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly) rs1459143051
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter) rs140468248
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)
NM_022356.4(P3H1):c.1667del (p.Asp556fs) rs2124093521
NM_022356.4(P3H1):c.1839-2A>C rs755665899
NM_022356.4(P3H1):c.1915-1G>A rs2124077667
NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter) rs72659356
NM_022356.4(P3H1):c.2055+86A>G
NM_022356.4(P3H1):c.2131dup (p.Leu711fs) rs1570452407
NM_022455.5(NSD1):c.4378+3_4378+6del rs1562251194
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys) rs587784134
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly) rs587784191
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr) rs587784205
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del) rs587784206
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly) rs1554207287
NM_024685.4(BBS10):c.235del (p.Thr79fs) rs760693838
NM_024996.7(GFM1):c.748del (p.Arg250fs) rs2108016910
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_025114.4(CEP290):c.1310del (p.Lys437fs) rs2137917381
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs) rs758015273
NM_025137.4(SPG11):c.1966_1967del (p.Lys656fs) rs1303294230
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter) rs372906057
NM_025137.4(SPG11):c.4434+1G>A rs1567148391
NM_025137.4(SPG11):c.4860dup (p.Lys1621fs) rs1418873962
NM_025137.4(SPG11):c.5175del (p.Ala1726fs) rs1060499768
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer) rs1323156960
NM_025137.4(SPG11):c.5972del (p.Cys1991fs) rs2082503070
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter) rs1595817021
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter) rs778305085
NM_025216.3(WNT10A):c.949del (p.Ala317fs) rs775990266
NM_031885.5(BBS2):c.1725del (p.Phe575fs) rs2144132609
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter) rs1555450681
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG rs1554260851
NM_033056.4(PCDH15):c.4389del (p.Gln1464fs) rs35296328
NM_033380.3(COL4A5):c.3940del (p.Gln1314fs) rs2147975180
NM_033380.3(COL4A5):c.446del (p.Pro149fs) rs104886054
NM_033550.4(TP53RK):c.193A>C (p.Lys65Gln) rs1568972559
NM_054012.4(ASS1):c.1018A>T (p.Lys340Ter) rs2118880170
NM_054012.4(ASS1):c.830_831del (p.Lys277fs) rs2118841816
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.65-5A>G rs587784012
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_138694.4(PKHD1):c.2664del (p.Gly890fs) rs2128186439
NM_138694.4(PKHD1):c.7713del (p.His2572fs) rs1057517078
NM_152281.3(GORAB):c.408_409del (p.Lys137fs) rs1085307068
NM_152564.5(VPS13B):c.4286_4287insT (p.Ala1431fs) rs2133637251
NM_152564.5(VPS13B):c.5148del (p.Gln1717fs) rs2133812056
NM_152564.5(VPS13B):c.760A>T (p.Lys254Ter) rs910393433
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter) rs2130679206
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153717.3(EVC):c.1113del (p.Thr372fs) rs2152076090
NM_153717.3(EVC):c.1750del (p.Gln584fs) rs1736000365
NM_153717.3(EVC):c.2098-1G>C rs773019082
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn) rs796051939
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.4(BCKDHB):c.1144T>C (p.Cys382Arg) rs727503822
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) rs869312126
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) rs398124581
NM_183050.4(BCKDHB):c.885del (p.Gly296fs) rs398124599
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs) rs398124601
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys) rs1224101411
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg) rs1664290387
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) rs866822473
NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro) rs963201816
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del) rs780580887
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs) rs751935649
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val) rs768905244
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr) rs62636267
NM_201253.3(CRB1):c.2227G>C (p.Val743Leu) rs863224862
NM_201253.3(CRB1):c.2249G>T (p.Gly750Val) rs2125483925
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg) rs1664671663
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp) rs1085307972
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr) rs1571544334
NM_201253.3(CRB1):c.291del (p.Lys97fs) rs2125303994
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr) rs62635659
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe) rs1450635782
NM_201253.3(CRB1):c.3896del (p.Asp1299fs) rs2125513602
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) rs1571848744
NM_201253.3(CRB1):c.506del (p.Gly169fs) rs1167867158
NM_201253.3(CRB1):c.70+1G>T rs1237424465
NM_201253.3(CRB1):c.998del (p.Gly333fs) rs2125354244
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter) rs1403618793
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter) rs1183957540
NM_206933.4(USH2A):c.10318del (p.Ile3440fs) rs1553261898
NM_206933.4(USH2A):c.10388-2A>G rs1553261479
NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter) rs1661687852
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter) rs944675223
NM_206933.4(USH2A):c.10585+1G>A rs2102763351
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg) rs1553261372
NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter) rs1553261372
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val) rs1259758261
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter) rs1661140054
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.11189del (p.Glu3730fs) rs1660922779
NM_206933.4(USH2A):c.11231+1G>A rs111033382
NM_206933.4(USH2A):c.11231+1G>T rs111033382
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter) rs749726310
NM_206933.4(USH2A):c.11336del (p.Tyr3779fs) rs762070900
NM_206933.4(USH2A):c.11389+1del rs1414935620
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs) rs1553257707
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs) rs1553257705
NM_206933.4(USH2A):c.11549del rs1660304704
NM_206933.4(USH2A):c.11712-2A>C rs753505333
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12067-1G>C rs397517977
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.4(USH2A):c.12294+1G>C rs111033526
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter) rs1657997730
NM_206933.4(USH2A):c.12409del (p.Arg4137fs) rs1657992342
NM_206933.4(USH2A):c.12602del (p.Gly4201fs) rs1553252499
NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter) rs1057517844
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs) rs764917754
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter) rs111033417
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp) rs775556188
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu) rs139474806
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs) rs1485393201
NM_206933.4(USH2A):c.13812-1G>A rs199782530
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.4(USH2A):c.13985del (p.Gln4662fs) rs1553252041
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter) rs1657798642
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter) rs397517989
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs) rs1553250192
NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter) rs766370703
NM_206933.4(USH2A):c.14582+1G>C rs1553250150
NM_206933.4(USH2A):c.14583-1G>T
NM_206933.4(USH2A):c.14747del (p.Gly4916fs) rs2102642087
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter) rs754834155
NM_206933.4(USH2A):c.14787del (p.Glu4930fs) rs34713174
NM_206933.4(USH2A):c.14791+2T>A rs1553250050
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs) rs1656646221
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs) rs2102636006
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs) rs1656419435
NM_206933.4(USH2A):c.15322del (p.Arg5108fs) rs1553248234
NM_206933.4(USH2A):c.15371del (p.Leu5124fs) rs1656163649
NM_206933.4(USH2A):c.15380del (p.Pro5127fs) rs1553248216
NM_206933.4(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser) rs1487450999
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs) rs2102545818
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer) rs1553320451
NM_206933.4(USH2A):c.2649dup (p.Pro884fs) rs2036054600
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter) rs1438734382
NM_206933.4(USH2A):c.2809+2T>A rs1553320397
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs) rs748369458
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter) rs762167370
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter) rs2034938852
NM_206933.4(USH2A):c.3828T>G (p.Tyr1276Ter) rs2034908815
NM_206933.4(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_206933.4(USH2A):c.4251+1G>T rs878853405
NM_206933.4(USH2A):c.4251+1del rs2102460236
NM_206933.4(USH2A):c.4276_4277del (p.Glu1426fs) rs1475129324
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter) rs1553258122
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter) rs1553258037
NM_206933.4(USH2A):c.4628-2A>G rs2032462132
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs) rs1553300558
NM_206933.4(USH2A):c.4886-1G>A rs1553300340
NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs) rs1558251742
NM_206933.4(USH2A):c.490G>T (p.Val164Phe) rs527236123
NM_206933.4(USH2A):c.4988-2A>G rs143521854
NM_206933.4(USH2A):c.5083del (p.Ser1695fs) rs1553300016
NM_206933.4(USH2A):c.5167+1G>T rs794727408
NM_206933.4(USH2A):c.5530C>T (p.Gln1844Ter) rs761075303
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs) rs1553299022
NM_206933.4(USH2A):c.5777-2A>C rs1064797136
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.4(USH2A):c.5857+1G>C rs2031604509
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.6050-2A>G rs772124060
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter) rs1209837469
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs) rs1553294144
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.4(USH2A):c.6326-2A>G rs1553287118
NM_206933.4(USH2A):c.6354del (p.Leu2119fs) rs2102483305
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter) rs727503725
NM_206933.4(USH2A):c.6485+1G>A rs1553287070
NM_206933.4(USH2A):c.651+1G>A rs1553257761
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.4(USH2A):c.675_678del (p.Phe225fs) rs2102708663
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) rs727503723
NM_206933.4(USH2A):c.6805+1G>T rs1553285919
NM_206933.4(USH2A):c.6957+1G>C rs2102458321
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs) rs1667314337
NM_206933.4(USH2A):c.725dup (p.Ser243fs) rs1195779037
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.4(USH2A):c.7493del (p.Ser2498fs) rs1553274448
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter) rs1553274424
NM_206933.4(USH2A):c.7595-1G>T rs1553273421
NM_206933.4(USH2A):c.7595-2A>G rs1064795047
NM_206933.4(USH2A):c.7620del (p.Leu2541fs) rs1553273412
NM_206933.4(USH2A):c.7862del (p.Pro2621fs) rs2102460381
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.7940del (p.Pro2647fs) rs1665132445
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.4(USH2A):c.8240del (p.Pro2747fs) rs1553272201
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe) rs2037760521
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys) rs2037760415
NM_206933.4(USH2A):c.8558+1G>T rs770383273
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) rs1553272035
NM_206933.4(USH2A):c.8682-2A>C rs1553271002
NM_206933.4(USH2A):c.8846-1G>T rs771051185
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs) rs1553268582
NM_206933.4(USH2A):c.9055+1G>A rs1553268562
NM_206933.4(USH2A):c.9055+1del rs1553268563
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter) rs1269642027
NM_206933.4(USH2A):c.9258+1G>T rs748810737
NM_206933.4(USH2A):c.9307del (p.Ile3103fs) rs1558121260
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) rs536593247
NM_206933.4(USH2A):c.9391dup (p.Val3131fs) rs2102796558
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter) rs1662880811
NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter) rs1662771528
NM_206933.4(USH2A):c.9763C>T (p.Gln3255Ter) rs1662226257
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter) rs863224941
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp) rs780036975
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992

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