ClinVar Miner

List of variants reported as uncertain significance for amino acid metabolism disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1644
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HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.*959A>C rs14701 0.00632
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569 0.00389
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_004483.5(GCSH):c.53C>T (p.Ala18Val) rs540997326 0.00326
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_144631.6(ZNF513):c.781G>A (p.Val261Met) rs61742428 0.00214
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) rs138682163 0.00183
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961 0.00179
NM_000372.5(TYR):c.1366+4A>G rs61754398 0.00175
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335 0.00163
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818 0.00137
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847 0.00131
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_000687.4(AHCY):c.-63A>G rs58942263 0.00108
NM_000161.3(GCH1):c.*1628A>C rs185031007 0.00106
NM_144639.3(UROC1):c.40C>T (p.Arg14Trp) rs147828466 0.00100
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp) rs147653673 0.00097
NM_000183.2(HADHB):c.-124C>G rs575302805 0.00095
NM_014003.4(DHX38):c.55G>A (p.Asp19Asn) rs145829337 0.00094
NM_014251.3(SLC25A13):c.-115G>T rs543933601 0.00089
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser) rs200935518 0.00083
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201 0.00076
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly) rs535825137 0.00076
NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe) rs190009374 0.00075
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) rs148962110 0.00075
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn) rs140326392 0.00072
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly) rs145023719 0.00070
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) rs148938083 0.00069
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln) rs146332658 0.00068
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg) rs146795035 0.00067
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625 0.00064
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316 0.00056
NM_001297.5(CNGB1):c.595C>T (p.Arg199Cys) rs199583058 0.00054
NM_005327.4(HADH):c.-115delG rs537335460 0.00053
NM_000372.5(TYR):c.1509G>C (p.Lys503Asn) rs138750983 0.00052
NM_014003.4(DHX38):c.923C>T (p.Thr308Met) rs61749038 0.00051
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643 0.00050
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val) rs138424013 0.00049
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg) rs139229844 0.00049
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly) rs144938800 0.00048
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) rs141098495 0.00048
NM_005763.4(AASS):c.2762A>G (p.Gln921Arg) rs140285200 0.00046
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) rs147010346 0.00045
NM_000341.4(SLC3A1):c.1381T>C (p.Tyr461His) rs144162964 0.00044
NM_001012720.2(RGR):c.229C>T (p.Leu77Phe) rs146536539 0.00044
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_001081.4(CUBN):c.3988C>T (p.His1330Tyr) rs149749419 0.00044
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=) rs148976047 0.00044
NM_000156.5(GAMT):c.-78C>T rs886054249 0.00043
NM_000156.5(GAMT):c.-79G>A rs966975299 0.00043
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln) rs113216558 0.00043
NM_024741.3(ZNF408):c.457C>T (p.Leu153Phe) rs140201502 0.00043
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950 0.00043
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro) rs774205809 0.00042
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_001081.4(CUBN):c.671G>A (p.Arg224His) rs139891639 0.00041
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299 0.00041
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile) rs149931573 0.00041
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln) rs141440865 0.00041
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr) rs199695154 0.00039
NM_001698.3(AUH):c.730G>A (p.Asp244Asn) rs202182817 0.00039
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser) rs150485422 0.00039
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00038
NM_000137.4(FAH):c.462C>A (p.His154Gln) rs144234072 0.00038
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr) rs79399971 0.00038
NM_000341.4(SLC3A1):c.322A>G (p.Ile108Val) rs138597262 0.00037
NM_000372.5(TYR):c.1067A>T (p.Asp356Val) rs180801021 0.00037
NM_001003841.3(SLC6A19):c.683C>T (p.Thr228Met) rs762412163 0.00037
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) rs150338273 0.00036
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000440.3(PDE6A):c.2144T>C (p.Met715Thr) rs144970068 0.00036
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr) rs141086188 0.00036
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887 0.00035
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro) rs142447950 0.00035
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg) rs144995371 0.00034
NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys) rs150895509 0.00034
NM_001010867.4(IBA57):c.574G>A (p.Ala192Thr) rs140163897 0.00034
NM_001142800.2(EYS):c.1748A>C (p.Asp583Ala) rs113591099 0.00034
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510 0.00033
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214 0.00033
NM_004453.4(ETFDH):c.-61C>T rs377679439 0.00033
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302 0.00033
NM_000170.3(GLDC):c.2147T>A (p.Leu716His) rs145018304 0.00032
NM_000666.3(ACY1):c.625C>T (p.Arg209Cys) rs140738368 0.00032
NM_001003841.3(SLC6A19):c.539C>T (p.Thr180Met) rs141487939 0.00032
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys) rs138022214 0.00032
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu) rs149133229 0.00031
NM_000481.4(AMT):c.825T>A (p.Asn275Lys) rs144241950 0.00031
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503 0.00031
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr) rs375374971 0.00031
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln) rs2066472 0.00031
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144 0.00031
NM_001164665.2(KIAA1549):c.116G>A (p.Arg39His) rs867020397 0.00030
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys) rs377405910 0.00030
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp) rs145541911 0.00030
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr) rs148808295 0.00030
NM_178857.6(RP1L1):c.455G>A (p.Arg152Gln) rs200213603 0.00030
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956 0.00029
NM_000360.4(TH):c.406G>A (p.Val136Met) rs142046543 0.00029
NM_004937.3(CTNS):c.661G>A (p.Val221Met) rs138270433 0.00029
NM_016335.6(PRODH):c.578G>A (p.Gly193Asp) rs199907923 0.00029
NM_031885.5(BBS2):c.-2T>G rs111296910 0.00029
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg) rs111033402 0.00029
NM_000016.6(ACADM):c.214G>A (p.Glu72Lys) rs374358376 0.00028
NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu) rs369703217 0.00028
NM_000360.4(TH):c.67G>A (p.Ala23Thr) rs201081519 0.00028
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) rs200100285 0.00028
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala) rs145881708 0.00027
NM_001081.4(CUBN):c.2932C>A (p.His978Asn) rs369981313 0.00026
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu) rs143899993 0.00026
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met) rs201954181 0.00026
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089 0.00026
NM_014714.4(IFT140):c.1331T>C (p.Met444Thr) rs148663745 0.00026
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_020208.4(SLC6A20):c.1744C>T (p.Arg582Cys) rs146474113 0.00026
NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln) rs142469446 0.00025
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) rs150628823 0.00025
NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter) rs150616080 0.00025
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp) rs150938554 0.00025
NM_000156.6(GAMT):c.7G>A (p.Ala3Thr) rs574164748 0.00024
NM_000170.3(GLDC):c.-31C>A rs964863986 0.00024
NM_000387.6(SLC25A20):c.358T>C (p.Ser120Pro) rs149174359 0.00024
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088 0.00024
NM_001698.3(AUH):c.791G>A (p.Gly264Glu) rs376821113 0.00024
NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile) rs142479732 0.00024
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) rs199585131 0.00024
NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser) rs141471091 0.00024
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_000187.4(HGD):c.8A>C (p.Glu3Ala) rs200412910 0.00022
NM_000485.3(APRT):c.376G>A (p.Val126Met) rs75205792 0.00022
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237 0.00022
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772 0.00022
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys) rs148093208 0.00022
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly) rs147374057 0.00022
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu) rs200802261 0.00022
NM_001080.3(ALDH5A1):c.50C>T (p.Ser17Leu) rs753168976 0.00021
NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn) rs533512333 0.00021
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly) rs747204358 0.00021
NM_002454.3(MTRR):c.505G>A (p.Val169Met) rs147742177 0.00021
NM_014270.5(SLC7A9):c.814G>A (p.Val272Met) rs774871326 0.00021
NM_014714.4(IFT140):c.561G>T (p.Lys187Asn) rs139286030 0.00021
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp) rs137906877 0.00021
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His) rs139701867 0.00021
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr) rs374742528 0.00021
NM_000071.3(CBS):c.856A>G (p.Ile286Val) rs147040567 0.00020
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr) rs138966725 0.00020
NM_016335.6(PRODH):c.1729C>T (p.Arg577Trp) rs184218784 0.00020
NM_000045.4(ARG1):c.-21A>C rs370747314 0.00019
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) rs190834116 0.00019
NM_000255.4(MMUT):c.781A>G (p.Ile261Val) rs375054307 0.00019
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_000360.4(TH):c.1423G>A (p.Val475Met) rs147585774 0.00019
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met) rs140202552 0.00019
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318 0.00019
NM_001102564.3(IFT43):c.16G>C (p.Asp6His) rs201966792 0.00019
NM_001142800.2(EYS):c.7751C>G (p.Thr2584Ser) rs557892188 0.00019
NM_001242957.3(MAK):c.356A>G (p.His119Arg) rs200506656 0.00019
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met) rs145141190 0.00019
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr) rs149642543 0.00019
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) rs201065562 0.00019
NM_015662.3(IFT172):c.235A>G (p.Thr79Ala) rs752069515 0.00019
NM_020208.4(SLC6A20):c.1646A>G (p.Lys549Arg) rs141811843 0.00019
NM_031885.3(BBS2):c.-190G>C rs555974619 0.00019
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys) rs147397090 0.00019
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser) rs199898889 0.00019
NM_054012.4(ASS1):c.299G>A (p.Arg100His) rs138279074 0.00019
NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala) rs200635063 0.00019
NM_000255.4(MMUT):c.1332+3A>C rs367641890 0.00018
NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu) rs141829043 0.00018
NM_000541.5(SAG):c.1132G>A (p.Val378Ile) rs200602069 0.00018
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp) rs142667203 0.00018
NM_003060.4(SLC22A5):c.*1244C>T rs184494469 0.00018
NM_004937.3(CTNS):c.697G>A (p.Val233Met) rs201058200 0.00018
NM_201548.5(CERKL):c.314G>A (p.Arg105Gln) rs529313774 0.00018
NM_000360.4(TH):c.391T>G (p.Phe131Val) rs200536568 0.00017
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000 0.00017
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_001003841.3(SLC6A19):c.1545T>A (p.Asn515Lys) rs372599057 0.00017
NM_001102564.3(IFT43):c.444+5G>A rs377078385 0.00017
NM_001482.3(GATM):c.160G>A (p.Asp54Asn) rs780777061 0.00017
NM_001876.4(CPT1A):c.851G>A (p.Arg284His) rs144866081 0.00017
NM_003982.4(SLC7A7):c.954A>T (p.Leu318Phe) rs201534081 0.00017
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) rs139079107 0.00017
NM_015662.3(IFT172):c.2976-3C>T rs371847154 0.00017
NM_015662.3(IFT172):c.3400C>T (p.Arg1134Trp) rs139223261 0.00017
NM_000360.4(TH):c.-18G>A rs370306636 0.00016
NM_000360.4(TH):c.585G>A (p.Ser195=) rs376615793 0.00016
NM_000440.3(PDE6A):c.2125G>A (p.Glu709Lys) rs148637474 0.00016
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys) rs139848689 0.00016
NM_001081.4(CUBN):c.2778T>G (p.Ser926Arg) rs371127860 0.00016
NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys) rs376641725 0.00016
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe) rs201692401 0.00016
NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr) rs146413074 0.00016
NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys) rs768964978 0.00016
NM_001297.5(CNGB1):c.1654C>T (p.Arg552Cys) rs370932519 0.00016
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr) rs150544263 0.00016
NM_003060.4(SLC22A5):c.791C>T (p.Thr264Met) rs201262157 0.00016
NM_003982.4(SLC7A7):c.916G>C (p.Gly306Arg) rs144264145 0.00016
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile) rs141723499 0.00016
NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp) rs575196272 0.00016
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) rs117209694 0.00016
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met) rs372961495 0.00016
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg) rs201008540 0.00016
NM_000161.3(GCH1):c.*1033C>T rs867220379 0.00015
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr) rs201536536 0.00015
NM_000539.3(RHO):c.310G>A (p.Val104Ile) rs144317206 0.00015
NM_001081.4(CUBN):c.427A>C (p.Asn143His) rs151018922 0.00015
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro) rs1314998853 0.00015
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile) rs202153689 0.00015
NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu) rs145946172 0.00015
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr) rs202129528 0.00015
NM_015662.3(IFT172):c.706C>T (p.Arg236Cys) rs146290725 0.00015
NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe) rs376443291 0.00015
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val) rs141676987 0.00015
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe) rs760751280 0.00014
NM_000341.4(SLC3A1):c.1474G>A (p.Ala492Thr) rs201989712 0.00014
NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg) rs1339233014 0.00014
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr) rs368630481 0.00014
NM_001081.4(CUBN):c.1450A>G (p.Ser484Gly) rs750735519 0.00014
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363 0.00014
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169 0.00014
NM_001164665.2(KIAA1549):c.3146T>A (p.Val1049Glu) rs200468254 0.00014
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg) rs368180778 0.00014
NM_004937.3(CTNS):c.332C>T (p.Pro111Leu) rs149689304 0.00014
NM_014270.5(SLC7A9):c.988G>A (p.Val330Met) rs201618022 0.00014
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) rs145267929 0.00014
NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln) rs150498538 0.00014
NM_015662.3(IFT172):c.590C>T (p.Pro197Leu) rs368373262 0.00014
NM_016335.6(PRODH):c.319A>G (p.Lys107Glu) rs140129512 0.00014
NM_020208.4(SLC6A20):c.79A>G (p.Asn27Asp) rs371272274 0.00014
NM_206933.4(USH2A):c.13477C>T (p.Arg4493Cys) rs144543286 0.00014
NM_000161.3(GCH1):c.-56G>A rs866010535 0.00013
NM_000187.4(HGD):c.567C>G (p.Ser189Arg) rs750428921 0.00013
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln) rs148285323 0.00013
NM_000277.3(PAH):c.65C>A (p.Thr22Lys) rs199565868 0.00013
NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys) rs375920680 0.00013
NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala) rs377159715 0.00013
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749 0.00013
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser) rs538159086 0.00013
NM_002497.4(NEK2):c.725A>C (p.Asp242Ala) rs148642058 0.00013
NM_003124.5(SPR):c.654G>A (p.Met218Ile) rs150078285 0.00013
NM_014270.5(SLC7A9):c.1369T>C (p.Tyr457His) rs138086959 0.00013
NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln) rs138596995 0.00013
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly) rs539181813 0.00013
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala) rs754862915 0.00013
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr) rs201589187 0.00012
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys) rs138098668 0.00012
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr) rs754727464 0.00012
NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr) rs199564404 0.00012
NM_014714.4(IFT140):c.2551G>A (p.Val851Met) rs754753583 0.00012
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640 0.00012
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met) rs138314289 0.00012
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_000170.3(GLDC):c.2518A>G (p.Met840Val) rs781693346 0.00011
NM_000281.4(PCBD1):c.205G>A (p.Val69Met) rs200188190 0.00011
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His) rs370262167 0.00011
NM_001029883.3(PCARE):c.3029G>A (p.Arg1010Gln) rs201772623 0.00011
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile) rs143291127 0.00011
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His) rs184746130 0.00011
NM_001297.5(CNGB1):c.109G>A (p.Val37Met) rs552372867 0.00011
NM_001876.4(CPT1A):c.2235G>A (p.Thr745=) rs202208941 0.00011
NM_003748.4(ALDH4A1):c.557T>C (p.Ile186Thr) rs375023861 0.00011
NM_004937.3(CTNS):c.694C>T (p.Arg232Cys) rs138823792 0.00011
NM_014249.4(NR2E3):c.223G>A (p.Val75Ile) rs750284532 0.00011
NM_014270.5(SLC7A9):c.176C>T (p.Thr59Met) rs146154087 0.00011
NM_014714.4(IFT140):c.1364C>T (p.Ala455Val) rs201949058 0.00011
NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp) rs146480546 0.00011
NM_014714.4(IFT140):c.3383G>A (p.Arg1128His) rs147661907 0.00011
NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr) rs751861503 0.00011
NM_015662.3(IFT172):c.2159G>A (p.Arg720His) rs202089120 0.00011
NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser) rs369780709 0.00011
NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys) rs373098915 0.00011
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu) rs200847456 0.00011
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp) rs560253338 0.00011
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe) rs779451259 0.00011
NM_000137.4(FAH):c.1193G>A (p.Gly398Glu) rs141946827 0.00010
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) rs200785120 0.00010
NM_000277.3(PAH):c.280A>G (p.Ile94Val) rs528078207 0.00010
NM_000341.4(SLC3A1):c.572A>G (p.Glu191Gly) rs534054965 0.00010
NM_000360.4(TH):c.452T>C (p.Val151Ala) rs147569564 0.00010
NM_000481.4(AMT):c.194A>G (p.His65Arg) rs376248724 0.00010
NM_001029883.3(PCARE):c.1968G>T (p.Arg656Ser) rs201980758 0.00010
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp) rs1276708 0.00010
NM_001102564.3(IFT43):c.92C>T (p.Ala31Val) rs147933112 0.00010
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly) rs146762466 0.00010
NM_001482.3(GATM):c.-1G>A rs778453861 0.00010
NM_001698.3(AUH):c.679G>A (p.Ala227Thr) rs141700491 0.00010
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln) rs757593086 0.00010
NM_003060.4(SLC22A5):c.*1214G>A rs529124788 0.00010
NM_003748.4(ALDH4A1):c.739C>T (p.Arg247Cys) rs748025331 0.00010
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser) rs748346465 0.00010
NM_006017.3(PROM1):c.-127A>G rs886059206 0.00010
NM_014251.3(SLC25A13):c.1814G>A (p.Arg605Gln) rs548194276 0.00010
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp) rs749099710 0.00010
NM_014714.4(IFT140):c.2987A>G (p.Asn996Ser) rs145645423 0.00010
NM_014714.4(IFT140):c.823G>A (p.Gly275Arg) rs146163533 0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys) rs529914770 0.00010
NM_017739.4(POMGNT1):c.355G>A (p.Val119Met) rs148498470 0.00010
NM_020208.4(SLC6A20):c.1742G>A (p.Arg581His) rs376448611 0.00010
NM_020686.6(ABAT):c.45G>C (p.Gln15His) rs138270964 0.00010
NM_021072.4(HCN1):c.2390T>G (p.Val797Gly) rs150936707 0.00010
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp) rs755412340 0.00010
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr) rs540856754 0.00010
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly) rs773104757 0.00010
NM_206933.4(USH2A):c.7379G>A (p.Arg2460His) rs368681648 0.00010
NM_000161.3(GCH1):c.328C>G (p.Gln110Glu) rs748944982 0.00009
NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala) rs759407117 0.00009
NM_000531.6(OTC):c.*105C>T rs1036076773 0.00009
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498 0.00009
NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu) rs373315916 0.00009
NM_001081.4(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638 0.00009
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe) rs754645310 0.00009
NM_001081.4(CUBN):c.536G>T (p.Gly179Val) rs370373276 0.00009
NM_001081.4(CUBN):c.614C>T (p.Thr205Met) rs374652141 0.00009
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509 0.00009
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val) rs376118603 0.00009
NM_001127222.2(CACNA1A):c.2105-15C>T rs190471428 0.00009
NM_001698.3(AUH):c.998C>T (p.Pro333Leu) rs541546111 0.00009
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr) rs201955205 0.00009
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val) rs758214692 0.00009
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile) rs183261797 0.00009
NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile) rs145746065 0.00009
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) rs142106374 0.00009
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732 0.00009
NM_015662.3(IFT172):c.145C>T (p.Arg49Trp) rs141043554 0.00009
NM_015662.3(IFT172):c.2131G>A (p.Ala711Thr) rs144620711 0.00009
NM_015662.3(IFT172):c.247A>G (p.Ile83Val) rs142227350 0.00009
NM_015662.3(IFT172):c.3538C>T (p.His1180Tyr) rs746868013 0.00009
NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser) rs763238244 0.00009
NM_018474.6(KIZ):c.284C>T (p.Thr95Ile) rs367970443 0.00009
NM_020208.4(SLC6A20):c.1A>G (p.Met1Val) rs149885788 0.00009
NM_033100.4(CDHR1):c.720G>C (p.Gln240His) rs149002238 0.00009
NM_033100.4(CDHR1):c.784-3G>A rs201384219 0.00009
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys) rs373514077 0.00009
NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys) rs114401181 0.00009
NM_177965.4(CFAP418):c.194G>T (p.Ser65Ile) rs969339085 0.00009
NM_201548.5(CERKL):c.949C>T (p.Arg317Cys) rs142530341 0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg) rs367693972 0.00009
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala) rs587783023 0.00009
NM_212552.3(BOLA3):c.296G>A (p.Arg99Gln) rs202046520 0.00009
NM_000071.3(CBS):c.847G>A (p.Glu283Lys) rs765811825 0.00008
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr) rs370059118 0.00008
NM_000329.3(RPE65):c.253C>T (p.Arg85Cys) rs763317722 0.00008
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser) rs200330356 0.00008
NM_001081.4(CUBN):c.10838G>A (p.Arg3613His) rs148626202 0.00008
NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala) rs748933632 0.00008
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg) rs771763775 0.00008
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg) rs140883483 0.00008
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr) rs201269793 0.00008
NM_001142800.2(EYS):c.2259C>T (p.Leu753=) rs781359405 0.00008
NM_001142800.2(EYS):c.8999T>C (p.Ile3000Thr) rs778823043 0.00008
NM_001354768.3(NRL):c.407C>T (p.Ala136Val) rs375075312 0.00008
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr) rs200327983 0.00008
NM_002150.3(HPD):c.356G>A (p.Arg119Gln) rs149180825 0.00008
NM_003060.4(SLC22A5):c.1568A>G (p.Gln523Arg) rs28383482 0.00008
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) rs797045846 0.00008
NM_003982.4(SLC7A7):c.250G>A (p.Val84Ile) rs368317123 0.00008
NM_012213.3(MLYCD):c.446G>A (p.Gly149Asp) rs773196234 0.00008
NM_014714.4(IFT140):c.1646C>T (p.Ser549Phe) rs751137317 0.00008
NM_014714.4(IFT140):c.2407G>A (p.Val803Ile) rs538791217 0.00008
NM_014714.4(IFT140):c.2543G>A (p.Arg848His) rs746743309 0.00008
NM_015662.3(IFT172):c.1829G>A (p.Arg610Gln) rs144890293 0.00008
NM_015662.3(IFT172):c.1983T>A (p.His661Gln) rs150739354 0.00008
NM_020208.4(SLC6A20):c.354+2T>A rs531515127 0.00008
NM_031885.5(BBS2):c.1381G>A (p.Val461Met) rs377000980 0.00008
NM_032601.4(MCEE):c.345C>A (p.Asn115Lys) rs548542949 0.00008
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys) rs370111364 0.00008
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys) rs541001298 0.00007
NM_000341.4(SLC3A1):c.247C>T (p.Arg83Cys) rs148946634 0.00007
NM_000360.4(TH):c.1024C>T (p.Arg342Cys) rs555810288 0.00007
NM_000541.5(SAG):c.682G>A (p.Val228Met) rs377019945 0.00007
NM_000666.3(ACY1):c.325A>G (p.Arg109Gly) rs139537461 0.00007
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu) rs150358307 0.00007
NM_001081.4(CUBN):c.1715A>T (p.His572Leu) rs368231433 0.00007
NM_001081.4(CUBN):c.4129C>T (p.Arg1377Cys) rs763563422 0.00007
NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu) rs575118918 0.00007
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys) rs148348845 0.00007
NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp) rs201331309 0.00007
NM_001142800.2(EYS):c.7171G>A (p.Gly2391Arg) rs751746614 0.00007
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val) rs148768970 0.00007
NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln) rs200290334 0.00007
NM_004453.4(ETFDH):c.424G>A (p.Val142Ile) rs146982178 0.00007
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser) rs778311141 0.00007
NM_014714.4(IFT140):c.2079G>C (p.Leu693Phe) rs137966471 0.00007
NM_014714.4(IFT140):c.2786C>T (p.Thr929Met) rs757585192 0.00007
NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys) rs758535401 0.00007
NM_015662.3(IFT172):c.2668G>A (p.Ala890Thr) rs202216329 0.00007
NM_015662.3(IFT172):c.623A>G (p.Asn208Ser) rs771817287 0.00007
NM_016335.6(PRODH):c.392G>A (p.Arg131Gln) rs145456430 0.00007
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp) rs769048646 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_144596.4(TTC8):c.308G>T (p.Gly103Val) rs140710339 0.00007
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser) rs752811693 0.00007
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys) rs376357524 0.00006
NM_000071.3(CBS):c.1315C>T (p.Arg439Trp) rs780508029 0.00006
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg) rs201098477 0.00006
NM_000071.3(CBS):c.1472G>A (p.Arg491His) rs747419767 0.00006
NM_000071.3(CBS):c.610G>A (p.Val204Met) rs372679328 0.00006
NM_000170.3(GLDC):c.1121G>A (p.Arg374Lys) rs141065026 0.00006
NM_000255.4(MMUT):c.912G>A (p.Arg304=) rs201311681 0.00006
NM_000276.4(OCRL):c.2138A>G (p.Lys713Arg) rs148646884 0.00006
NM_000341.4(SLC3A1):c.1613T>C (p.Val538Ala) rs772556641 0.00006
NM_000341.4(SLC3A1):c.313A>G (p.Ile105Val) rs200093674 0.00006
NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg) rs140281495 0.00006
NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met) rs185093512 0.00006
NM_000360.4(TH):c.104T>C (p.Ile35Thr) rs747420332 0.00006
NM_000360.4(TH):c.13G>A (p.Asp5Asn) rs777016570 0.00006
NM_000360.4(TH):c.550G>A (p.Asp184Asn) rs139807727 0.00006
NM_000372.5(TYR):c.892C>T (p.Arg298Trp) rs200854796 0.00006
NM_000485.3(APRT):c.316G>A (p.Gly106Arg) rs780098835 0.00006
NM_000485.3(APRT):c.364A>C (p.Arg122=) rs35095508 0.00006
NM_000666.3(ACY1):c.1133G>A (p.Arg378Gln) rs150480963 0.00006
NM_001003841.3(SLC6A19):c.1522G>A (p.Val508Met) rs771770693 0.00006
NM_001003841.3(SLC6A19):c.688C>T (p.Pro230Ser) rs141497538 0.00006
NM_001003841.3(SLC6A19):c.697G>A (p.Val233Ile) rs183474162 0.00006
NM_001081.4(CUBN):c.2120G>A (p.Arg707His) rs763524933 0.00006
NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp) rs781180388 0.00006
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val) rs200593316 0.00006
NM_001081.4(CUBN):c.8056T>C (p.Phe2686Leu) rs755819982 0.00006
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846 0.00006
NM_001102564.3(IFT43):c.459C>A (p.Asp153Glu) rs778799892 0.00006
NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser) rs554856028 0.00006
NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg) rs371491059 0.00006
NM_001142800.2(EYS):c.7117G>A (p.Ala2373Thr) rs372512515 0.00006
NM_001258392.3(CLPB):c.844A>G (p.Met282Val) rs773028492 0.00006
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly) rs375247004 0.00006
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr) rs142369181 0.00006
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr) rs537170841 0.00006
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp) rs367595060 0.00006
NM_001876.4(CPT1A):c.598A>G (p.Lys200Glu) rs201425412 0.00006
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg) rs150411351 0.00006
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn) rs770815414 0.00006
NM_003042.4(SLC6A1):c.1436G>A (p.Arg479Gln) rs771439149 0.00006
NM_003748.4(ALDH4A1):c.1082G>C (p.Trp361Ser) rs763793413 0.00006
NM_003982.4(SLC7A7):c.1170G>C (p.Trp390Cys) rs370847983 0.00006
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His) rs757842479 0.00006
NM_006343.3(MERTK):c.472G>A (p.Ala158Thr) rs780214104 0.00006
NM_006445.4(PRPF8):c.5794-3C>G rs776617795 0.00006
NM_006721.4(ADK):c.66-23885T>A rs370191448 0.00006
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His) rs758922111 0.00006
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) rs762614200 0.00006
NM_014249.4(NR2E3):c.953C>T (p.Thr318Met) rs755224888 0.00006
NM_014252.4(SLC25A15):c.380C>T (p.Thr127Met) rs201902280 0.00006
NM_014270.5(SLC7A9):c.44C>T (p.Ser15Leu) rs148435870 0.00006
NM_014336.5(AIPL1):c.658G>A (p.Val220Met) rs751994982 0.00006
NM_014714.4(IFT140):c.1021G>A (p.Ala341Thr) rs200292484 0.00006
NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln) rs147556035 0.00006
NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp) rs781160807 0.00006
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val) rs748463111 0.00006
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val) rs200394007 0.00006
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser) rs756324852 0.00006
NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu) rs566568065 0.00006
NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly) rs771632573 0.00006
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) rs369671309 0.00006
NM_015662.3(IFT172):c.2522C>T (p.Ala841Val) rs762431558 0.00006
NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr) rs377646246 0.00006
NM_015662.3(IFT172):c.4408G>A (p.Gly1470Arg) rs146047876 0.00006
NM_015662.3(IFT172):c.442A>G (p.Ile148Val) rs759861487 0.00006
NM_016335.6(PRODH):c.1093G>A (p.Val365Ile) rs768237039 0.00006
NM_016335.6(PRODH):c.1295G>A (p.Arg432His) rs143011525 0.00006
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln) rs371741722 0.00006
NM_020208.4(SLC6A20):c.262+4C>T rs777914805 0.00006
NM_020208.4(SLC6A20):c.678C>T (p.Tyr226=) rs149505473 0.00006
NM_020686.6(ABAT):c.816+19G>A rs147226856 0.00006
NM_022367.4(SEMA4A):c.2251G>A (p.Ala751Thr) rs747089050 0.00006
NM_031885.5(BBS2):c.-147G>T rs886052154 0.00006
NM_031885.5(BBS2):c.1527+5G>C rs769041685 0.00006
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser) rs181107019 0.00006
NM_031885.5(BBS2):c.722A>C (p.Lys241Thr) rs199918247 0.00006
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly) rs759112760 0.00006
NM_144596.4(TTC8):c.874G>A (p.Val292Ile) rs375086490 0.00006
NM_144596.4(TTC8):c.913A>G (p.Met305Val) rs143237548 0.00006
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met) rs761054871 0.00006
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn) rs142126209 0.00006
NM_177550.5(SLC13A5):c.1138C>T (p.Arg380Cys) rs377270604 0.00006
NM_177965.4(CFAP418):c.82G>A (p.Glu28Lys) rs768222931 0.00006
NM_177972.3(TUB):c.1232T>A (p.Leu411Gln) rs200239459 0.00006
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn) rs937362854 0.00006
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg) rs148674752 0.00006
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met) rs375429745 0.00006
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val) rs111033419 0.00006
NM_206933.4(USH2A):c.586C>T (p.Pro196Ser) rs756041909 0.00006
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys) rs375278546 0.00006
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266 0.00006
NM_000017.4(ACADS):c.1157G>A (p.Arg386His) rs766183395 0.00005
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val) rs374729641 0.00005
NM_000071.3(CBS):c.1564G>A (p.Gly522Arg) rs201916339 0.00005
NM_000156.6(GAMT):c.511C>G (p.Leu171Val) rs770110177 0.00005
NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr) rs201509112 0.00005
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg) rs78150750 0.00005
NM_000281.4(PCBD1):c.91C>T (p.Arg31Cys) rs11554325 0.00005
NM_000341.4(SLC3A1):c.569T>C (p.Met190Thr) rs772817732 0.00005
NM_000341.4(SLC3A1):c.935G>C (p.Ser312Thr) rs201325919 0.00005
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met) rs142732109 0.00005
NM_000360.4(TH):c.398G>A (p.Arg133His) rs376881948 0.00005
NM_000440.3(PDE6A):c.2131G>A (p.Val711Ile) rs764962408 0.00005
NM_000481.4(AMT):c.436G>A (p.Ala146Thr) rs570868528 0.00005
NM_000485.3(APRT):c.482C>T (p.Ser161Leu) rs766909450 0.00005
NM_000709.4(BCKDHA):c.1277C>T (p.Ser426Phe) rs557058340 0.00005
NM_001001563.5(TIMM50):c.1033C>T (p.Arg345Cys) rs137968278 0.00005
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val) rs767333853 0.00005
NM_001081.4(CUBN):c.10235C>T (p.Pro3412Leu) rs556303931 0.00005
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser) rs776471095 0.00005
NM_001081.4(CUBN):c.2476G>A (p.Val826Ile) rs141874896 0.00005
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser) rs201251467 0.00005
NM_001081.4(CUBN):c.4797G>T (p.Leu1599Phe) rs201294291 0.00005
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940 0.00005
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met) rs201958183 0.00005
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735 0.00005
NM_001297.5(CNGB1):c.1699C>T (p.Arg567Trp) rs556362158 0.00005
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln) rs142850278 0.00005
NM_003060.4(SLC22A5):c.892C>T (p.Arg298Cys) rs755114089 0.00005
NM_003982.4(SLC7A7):c.1406C>T (p.Pro469Leu) rs142739200 0.00005
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe) rs141808601 0.00005
NM_006623.4(PHGDH):c.946G>A (p.Val316Met) rs146398308 0.00005
NM_014249.4(NR2E3):c.664G>A (p.Glu222Lys) rs371945959 0.00005
NM_014714.4(IFT140):c.1976G>A (p.Arg659Gln) rs780189760 0.00005
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile) rs199758112 0.00005
NM_014714.4(IFT140):c.2491C>T (p.Arg831Cys) rs774690522 0.00005
NM_014714.4(IFT140):c.3382C>T (p.Arg1128Cys) rs368830697 0.00005
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) rs571556177 0.00005
NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln) rs150276786 0.00005
NM_015662.3(IFT172):c.2036C>T (p.Thr679Ile) rs369169776 0.00005
NM_015662.3(IFT172):c.2351G>A (p.Arg784Gln) rs370097039 0.00005
NM_015662.3(IFT172):c.3643G>A (p.Asp1215Asn) rs777398021 0.00005
NM_015662.3(IFT172):c.4622A>G (p.Tyr1541Cys) rs138003766 0.00005
NM_016335.6(PRODH):c.1181C>T (p.Thr394Met) rs777930066 0.00005
NM_024741.3(ZNF408):c.1928C>T (p.Ala643Val) rs757827254 0.00005
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu) rs967941621 0.00005
NM_144596.4(TTC8):c.1078G>A (p.Gly360Ser) rs771231605 0.00005
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln) rs140031911 0.00005
NM_174878.3(CLRN1):c.322C>T (p.Leu108Phe) rs144691725 0.00005
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp) rs201281141 0.00005
NM_206933.4(USH2A):c.7540A>C (p.Asn2514His) rs777618162 0.00005
NM_000016.6(ACADM):c.50G>A (p.Arg17His) rs17848070 0.00004
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr) rs772087249 0.00004
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln) rs374047157 0.00004
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu) rs755106884 0.00004
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala) rs146299082 0.00004
NM_000170.3(GLDC):c.869C>T (p.Ala290Val) rs534936420 0.00004
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr) rs753722938 0.00004
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg) rs777758512 0.00004
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser) rs200479834 0.00004
NM_000255.4(MMUT):c.1607C>T (p.Ala536Val) rs369902876 0.00004
NM_000255.4(MMUT):c.2084C>T (p.Pro695Leu) rs561197473 0.00004
NM_000281.4(PCBD1):c.262C>T (p.Arg88Trp) rs564505637 0.00004
NM_000283.4(PDE6B):c.2150G>A (p.Cys717Tyr) rs142936195 0.00004
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) rs144612129 0.00004
NM_000341.4(SLC3A1):c.1870A>G (p.Thr624Ala) rs781253461 0.00004
NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln) rs759799179 0.00004
NM_000350.3(ABCA4):c.766G>T (p.Val256Leu) rs374851665 0.00004
NM_000360.4(TH):c.653C>T (p.Pro218Leu) rs377729019 0.00004
NM_000360.4(TH):c.794G>A (p.Arg265Gln) rs199961079 0.00004
NM_000387.6(SLC25A20):c.-80G>C rs551279923 0.00004
NM_000481.4(AMT):c.283G>A (p.Val95Met) rs183396486 0.00004
NM_000485.3(APRT):c.175G>A (p.Asp59Asn) rs768268700 0.00004
NM_001003841.3(SLC6A19):c.293G>A (p.Arg98Gln) rs369605197 0.00004
NM_001003841.3(SLC6A19):c.502A>G (p.Arg168Gly) rs140812221 0.00004
NM_001003841.3(SLC6A19):c.641G>A (p.Arg214His) rs143274116 0.00004
NM_001003841.3(SLC6A19):c.887+9G>A rs762018842 0.00004
NM_001081.4(CUBN):c.10327G>A (p.Glu3443Lys) rs776263089 0.00004
NM_001081.4(CUBN):c.10363-3A>G rs765943248 0.00004
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915 0.00004
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile) rs370770104 0.00004
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn) rs150277370 0.00004
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val) rs1290241240 0.00004
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp) rs146824506 0.00004
NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala) rs748558881 0.00004
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg) rs772400701 0.00004
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val) rs946315516 0.00004
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val) rs772570411 0.00004
NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala) rs1007248288 0.00004
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys) rs142519035 0.00004
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile) rs201093611 0.00004
NM_001102564.3(IFT43):c.587C>T (p.Thr196Met) rs759241440 0.00004
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys) rs759782636 0.00004
NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg) rs765523382 0.00004
NM_001142800.2(EYS):c.1462T>G (p.Ser488Ala) rs754245105 0.00004
NM_001142800.2(EYS):c.1973G>C (p.Ser658Thr) rs1486743340 0.00004
NM_001142800.2(EYS):c.2545C>T (p.Arg849Cys) rs369347845 0.00004
NM_001142800.2(EYS):c.77G>A (p.Arg26Gln) rs528733427 0.00004
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe) rs374714909 0.00004
NM_001142800.2(EYS):c.8003G>T (p.Cys2668Phe) rs985211023 0.00004
NM_001142800.2(EYS):c.8207C>T (p.Ala2736Val) rs374200609 0.00004
NM_001201543.2(FAM161A):c.1759G>A (p.Glu587Lys) rs868226745 0.00004
NM_001243279.3(ACSF3):c.1084A>T (p.Met362Leu) rs560149696 0.00004
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His) rs144711526 0.00004
NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val) rs142633119 0.00004
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870 0.00004
NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln) rs564787975 0.00004
NM_001367823.1(ARHGEF18):c.1537C>T (p.Arg513Cys) rs140149608 0.00004
NM_001370658.1(BTD):c.49G>A (p.Val17Met) rs772369148 0.00004
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu) rs370014549 0.00004
NM_001379270.1(CNGA1):c.1499A>G (p.Asp500Gly) rs372770176 0.00004
NM_001482.3(GATM):c.1106G>A (p.Arg369His) rs747557239 0.00004
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln) rs374592247 0.00004
NM_001482.3(GATM):c.338A>G (p.His113Arg) rs910754475 0.00004
NM_001605.3(AARS1):c.959G>A (p.Arg320His) rs557600847 0.00004
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met) rs374629804 0.00004
NM_001609.4(ACADSB):c.157C>T (p.Pro53Ser) rs150022323 0.00004
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp) rs386134203 0.00004
NM_003611.3(OFD1):c.1490A>C (p.His497Pro) rs772474080 0.00004
NM_003982.4(SLC7A7):c.1229G>A (p.Arg410Gln) rs368317701 0.00004
NM_003982.4(SLC7A7):c.126C>T (p.Gly42=) rs773097626 0.00004
NM_003982.4(SLC7A7):c.1349C>T (p.Ala450Val) rs141632828 0.00004
NM_003982.4(SLC7A7):c.241C>T (p.Leu81Phe) rs371860097 0.00004
NM_004937.3(CTNS):c.407T>G (p.Val136Gly) rs764372178 0.00004
NM_005050.4(ABCD4):c.362G>A (p.Arg121His) rs201744101 0.00004
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile) rs782370174 0.00004
NM_006017.3(PROM1):c.1632G>T (p.Gly544=) rs753308387 0.00004
NM_006915.3(RP2):c.286G>A (p.Val96Met) rs782229330 0.00004
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) rs371908109 0.00004
NM_014336.5(AIPL1):c.1112C>G (p.Ala371Gly) rs745586461 0.00004
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn) rs201871050 0.00004
NM_014714.4(IFT140):c.1726C>T (p.Arg576Trp) rs757678246 0.00004
NM_014714.4(IFT140):c.2119C>T (p.Leu707Phe) rs141172132 0.00004
NM_014714.4(IFT140):c.2492G>A (p.Arg831His) rs769046641 0.00004
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln) rs771116194 0.00004
NM_014714.4(IFT140):c.2516C>T (p.Ala839Val) rs145609033 0.00004
NM_014714.4(IFT140):c.2780C>T (p.Ser927Leu) rs2040655109 0.00004
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr) rs369493147 0.00004
NM_014714.4(IFT140):c.3235G>A (p.Val1079Met) rs146537096 0.00004
NM_014714.4(IFT140):c.3271-5C>T rs368227090 0.00004
NM_014714.4(IFT140):c.329G>A (p.Arg110His) rs371077545 0.00004
NM_014714.4(IFT140):c.3881T>C (p.Ile1294Thr) rs539917190 0.00004
NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs) rs753109181 0.00004
NM_014714.4(IFT140):c.903-5T>G rs900599017 0.00004
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr) rs370229341 0.00004
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg) rs745419717 0.00004
NM_015662.3(IFT172):c.1157G>A (p.Arg386Gln) rs137868356 0.00004
NM_015662.3(IFT172):c.1247A>G (p.Glu416Gly) rs779907319 0.00004
NM_015662.3(IFT172):c.1513C>T (p.Arg505Trp) rs779152335 0.00004
NM_015662.3(IFT172):c.1691G>A (p.Arg564Lys) rs148710037 0.00004
NM_015662.3(IFT172):c.1720G>A (p.Gly574Arg) rs762521619 0.00004
NM_015662.3(IFT172):c.184-6T>A rs371658303 0.00004
NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp) rs201921339 0.00004
NM_015662.3(IFT172):c.2222G>A (p.Arg741His) rs1011923461 0.00004
NM_015662.3(IFT172):c.2818C>T (p.Arg940Trp) rs760316903 0.00004
NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys) rs762645007 0.00004
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met) rs76076247 0.00004
NM_015662.3(IFT172):c.3713A>C (p.Glu1238Ala) rs553301895 0.00004
NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys) rs557292146 0.00004
NM_015662.3(IFT172):c.4673C>T (p.Ala1558Val) rs757464563 0.00004
NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile) rs115716101 0.00004
NM_015662.3(IFT172):c.4867A>G (p.Thr1623Ala) rs750991615 0.00004
NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp) rs560831644 0.00004
NM_015662.3(IFT172):c.926G>C (p.Gly309Ala) rs749612277 0.00004
NM_016373.4(WWOX):c.926G>A (p.Arg309His) rs370792938 0.00004
NM_020208.4(SLC6A20):c.1051A>C (p.Met351Leu) rs147777980 0.00004
NM_020208.4(SLC6A20):c.268G>A (p.Ala90Thr) rs565896481 0.00004
NM_020208.4(SLC6A20):c.473C>T (p.Pro158Leu) rs776558771 0.00004
NM_031885.5(BBS2):c.1046T>G (p.Leu349Trp) rs752280639 0.00004
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp) rs372135700 0.00004
NM_031885.5(BBS2):c.320A>G (p.Asn107Ser) rs1292834581 0.00004
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser) rs144680278 0.00004
NM_031885.5(BBS2):c.61A>G (p.Ile21Val) rs1319616745 0.00004
NM_031885.5(BBS2):c.962C>T (p.Thr321Met) rs758548498 0.00004
NM_054012.4(ASS1):c.533C>T (p.Pro178Leu) rs768846877 0.00004
NM_144596.4(TTC8):c.800T>A (p.Val267Asp) rs770333148 0.00004
NM_152419.3(HGSNAT):c.995A>G (p.Asn332Ser) rs374892647 0.00004
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln) rs530046423 0.00004
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala) rs886045787 0.00004
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166 0.00004
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile) rs201951918 0.00004
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His) rs775075094 0.00004
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu) rs727503714 0.00004
NM_206933.4(USH2A):c.2167+15A>G rs779599960 0.00004
NM_206933.4(USH2A):c.3937A>G (p.Asn1313Asp) rs540537272 0.00004
NM_206933.4(USH2A):c.4304A>C (p.Lys1435Thr) rs752059469 0.00004
NM_206933.4(USH2A):c.5410A>G (p.Ile1804Val) rs201804063 0.00004
NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp) rs141134147 0.00004
NM_000026.4(ADSL):c.224A>G (p.Lys75Arg) rs772345709 0.00003
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys) rs766465184 0.00003
NM_000071.3(CBS):c.1009A>G (p.Met337Val) rs372822486 0.00003
NM_000071.3(CBS):c.1484C>T (p.Thr495Met) rs772344567 0.00003
NM_000071.3(CBS):c.1594G>A (p.Gly532Arg) rs748953468 0.00003
NM_000071.3(CBS):c.791T>C (p.Ile264Thr) rs760212248 0.00003
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly) rs201888260 0.00003
NM_000170.3(GLDC):c.2369G>A (p.Arg790Gln) rs187209250 0.00003
NM_000187.4(HGD):c.920G>A (p.Arg307His) rs752719362 0.00003
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile) rs746968587 0.00003
NM_000273.3(GPR143):c.191C>T (p.Pro64Leu) rs936878316 0.00003
NM_000274.4(OAT):c.314T>C (p.Val105Ala) rs199957428 0.00003
NM_000276.4(OCRL):c.40A>G (p.Thr14Ala) rs371099243 0.00003
NM_000282.4(PCCA):c.803G>A (p.Arg268His) rs368047060 0.00003
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu) rs201062742 0.00003
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr) rs187962930 0.00003
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser) rs200592320 0.00003
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) rs138359497 0.00003
NM_000360.4(TH):c.1297G>A (p.Val433Met) rs772641972 0.00003
NM_000372.5(TYR):c.875C>T (p.Thr292Met) rs61754372 0.00003
NM_000481.4(AMT):c.1082C>T (p.Ala361Val) rs757293245 0.00003
NM_000485.3(APRT):c.460G>A (p.Val154Met) rs141669365 0.00003
NM_000709.4(BCKDHA):c.946C>T (p.Arg316Trp) rs758442329 0.00003
NM_001003841.3(SLC6A19):c.292C>T (p.Arg98Trp) rs777046481 0.00003
NM_001080.3(ALDH5A1):c.1480G>A (p.Glu494Lys) rs374232934 0.00003
NM_001080.3(ALDH5A1):c.1606T>C (p.Ter536Gln) rs201484501 0.00003
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser) rs200658389 0.00003
NM_001081.4(CUBN):c.2452G>A (p.Gly818Arg) rs141274853 0.00003
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser) rs759351780 0.00003
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile) rs374628341 0.00003
NM_001081.4(CUBN):c.736G>A (p.Val246Ile) rs760990753 0.00003
NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys) rs757744293 0.00003
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys) rs375210532 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro) rs1233829101 0.00003
NM_001142800.2(EYS):c.1483G>C (p.Gly495Arg) rs771221172 0.00003
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His) rs200352879 0.00003
NM_001271.4(CHD2):c.881G>T (p.Gly294Val) rs771390521 0.00003
NM_001278064.2(GRM1):c.2909C>T (p.Pro970Leu) rs1432380664 0.00003
NM_001278293.3(ARL6):c.529C>T (p.Leu177Phe) rs750627875 0.00003
NM_001297.5(CNGB1):c.2501G>T (p.Arg834Leu) rs761295014 0.00003
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn) rs140014588 0.00003
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg) rs371116229 0.00003
NM_001482.3(GATM):c.279C>G (p.Ile93Met) rs192378417 0.00003
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp) rs749039663 0.00003
NM_001876.4(CPT1A):c.266G>A (p.Arg89Gln) rs751235722 0.00003
NM_002225.5(IVD):c.334A>T (p.Met112Leu) rs772021923 0.00003
NM_003060.4(SLC22A5):c.130G>A (p.Ala44Thr) rs1266620798 0.00003
NM_003060.4(SLC22A5):c.377C>A (p.Ser126Tyr) rs568906114 0.00003
NM_003124.5(SPR):c.16G>C (p.Gly6Arg) rs769415486 0.00003
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658 0.00003
NM_003982.4(SLC7A7):c.1123G>A (p.Val375Met) rs769093980 0.00003
NM_003982.4(SLC7A7):c.595A>G (p.Ile199Val) rs779266344 0.00003
NM_003982.4(SLC7A7):c.894+6G>A rs373812507 0.00003
NM_004172.5(SLC1A3):c.510C>G (p.Phe170Leu) rs774420370 0.00003
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp) rs764131110 0.00003
NM_006017.3(PROM1):c.1450A>G (p.Met484Val) rs574974703 0.00003
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro) rs368515078 0.00003
NM_006269.2(RP1):c.2716G>A (p.Ala906Thr) rs201538234 0.00003
NM_006269.2(RP1):c.5002A>G (p.Arg1668Gly) rs375004458 0.00003
NM_006343.3(MERTK):c.2785_2786dup (p.Ile930fs) rs773105686 0.00003
NM_006445.4(PRPF8):c.654-5C>T rs143954665 0.00003
NM_006915.3(RP2):c.49C>T (p.Pro17Ser) rs782103396 0.00003
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) rs781305219 0.00003
NM_014003.4(DHX38):c.2831G>A (p.Arg944Gln) rs543465915 0.00003
NM_014249.4(NR2E3):c.1001G>A (p.Arg334Gln) rs374483122 0.00003
NM_014249.4(NR2E3):c.142C>T (p.Arg48Cys) rs763706390 0.00003
NM_014249.4(NR2E3):c.998C>T (p.Thr333Met) rs554638593 0.00003
NM_014252.4(SLC25A15):c.677C>T (p.Ala226Val) rs776523157 0.00003
NM_014270.5(SLC7A9):c.26G>A (p.Arg9Gln) rs200753692 0.00003
NM_014270.5(SLC7A9):c.448G>A (p.Val150Ile) rs768355648 0.00003
NM_014270.5(SLC7A9):c.812A>G (p.Asn271Ser) rs143285077 0.00003
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) rs764912104 0.00003
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met) rs764537319 0.00003
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln) rs373111085 0.00003
NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser) rs778960409 0.00003
NM_014714.4(IFT140):c.2035G>A (p.Gly679Arg) rs769632242 0.00003
NM_014714.4(IFT140):c.2138G>A (p.Arg713Gln) rs200440483 0.00003
NM_014714.4(IFT140):c.2425C>T (p.Arg809Cys) rs755748472 0.00003
NM_014714.4(IFT140):c.2717G>A (p.Arg906His) rs754338217 0.00003
NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg) rs201100248 0.00003
NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn) rs568921640 0.00003
NM_014714.4(IFT140):c.3103C>T (p.Arg1035Trp) rs141818893 0.00003
NM_014714.4(IFT140):c.3560C>T (p.Ser1187Leu) rs952706482 0.00003
NM_014714.4(IFT140):c.3719T>C (p.Val1240Ala) rs149521576 0.00003
NM_014714.4(IFT140):c.4041-5G>A rs754813435 0.00003
NM_014714.4(IFT140):c.508G>A (p.Ala170Thr) rs145551546 0.00003
NM_015662.3(IFT172):c.2681G>A (p.Arg894His) rs561927411 0.00003
NM_015662.3(IFT172):c.2744A>G (p.Tyr915Cys) rs749474609 0.00003
NM_015662.3(IFT172):c.3030C>A (p.His1010Gln) rs201607202 0.00003
NM_015662.3(IFT172):c.357A>G (p.Gln119=) rs749934202 0.00003
NM_015662.3(IFT172):c.707G>A (p.Arg236His) rs768290728 0.00003
NM_015662.3(IFT172):c.986C>T (p.Thr329Met) rs568736482 0.00003
NM_016335.6(PRODH):c.391C>T (p.Arg131Trp) rs753625227 0.00003
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr) rs200699154 0.00003
NM_016373.4(WWOX):c.746G>A (p.Arg249His) rs756703833 0.00003
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser) rs375420073 0.00003
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala) rs182830931 0.00003
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met) rs776138490 0.00003
NM_020208.4(SLC6A20):c.1098+2T>C rs1275324148 0.00003
NM_020208.4(SLC6A20):c.615C>T (p.Cys205=) rs779053318 0.00003
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=) rs749406136 0.00003
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp) rs143607562 0.00003
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser) rs761864599 0.00003
NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp) rs1175381219 0.00003
NM_031885.5(BBS2):c.1928G>A (p.Arg643His) rs532361142 0.00003
NM_031885.5(BBS2):c.380C>G (p.Thr127Arg) rs1191790453 0.00003
NM_031885.5(BBS2):c.635T>C (p.Met212Thr) rs764600063 0.00003
NM_144596.4(TTC8):c.980A>G (p.Glu327Gly) rs749721461 0.00003
NM_177965.4(CFAP418):c.254C>T (p.Ser85Phe) rs764463463 0.00003
NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp) rs754564043 0.00003
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met) rs564240175 0.00003
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu) rs765354805 0.00003
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys) rs576236830 0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00003
NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG rs1555527381 0.00002
NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys) rs557260142 0.00002
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln) rs755059672 0.00002
NM_000071.3(CBS):c.599C>T (p.Pro200Leu) rs758712880 0.00002
NM_000137.4(FAH):c.341C>T (p.Thr114Met) rs772014160 0.00002
NM_000156.6(GAMT):c.220G>A (p.Ala74Thr) rs749284008 0.00002
NM_000156.6(GAMT):c.493G>A (p.Val165Ile) rs1050914 0.00002
NM_000161.3(GCH1):c.*34C>T rs757193609 0.00002
NM_000161.3(GCH1):c.299C>T (p.Ser100Leu) rs527416949 0.00002
NM_000170.3(GLDC):c.1342G>C (p.Glu448Gln) rs777365335 0.00002
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) rs545660610 0.00002
NM_000188.3(HK1):c.949G>A (p.Gly317Ser) rs202028638 0.00002
NM_000191.3(HMGCL):c.184A>G (p.Met62Val) rs373738626 0.00002
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996 0.00002
NM_000255.4(MMUT):c.161A>G (p.Lys54Arg) rs559152765 0.00002
NM_000255.4(MMUT):c.227G>A (p.Arg76Lys) rs1252414363 0.00002
NM_000255.4(MMUT):c.431G>A (p.Arg144His) rs776621768 0.00002
NM_000276.4(OCRL):c.2066G>A (p.Arg689His) rs748186190 0.00002
NM_000276.4(OCRL):c.769G>A (p.Gly257Arg) rs1388273402 0.00002
NM_000277.3(PAH):c.442-14C>T rs775806999 0.00002
NM_000282.4(PCCA):c.946A>T (p.Met316Leu) rs200311920 0.00002
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His) rs373852467 0.00002
NM_000350.3(ABCA4):c.303-3C>T rs777945195 0.00002
NM_000353.3(TAT):c.683G>C (p.Arg228Pro) rs554840029 0.00002
NM_000372.5(TYR):c.389A>T (p.Glu130Val) rs966882228 0.00002
NM_000440.3(PDE6A):c.2548_2552del (p.Gly850fs) rs1240421230 0.00002
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr) rs542389615 0.00002
NM_000532.5(PCCB):c.543G>C (p.Leu181=) rs777868289 0.00002
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) rs942815730 0.00002
NM_000883.4(IMPDH1):c.1800A>G (p.Ter600Trp) rs747314543 0.00002
NM_001003841.3(SLC6A19):c.1097G>A (p.Arg366Gln) rs750499474 0.00002
NM_001003841.3(SLC6A19):c.1244T>C (p.Leu415Pro) rs370393309 0.00002
NM_001003841.3(SLC6A19):c.125T>C (p.Met42Thr) rs144373119 0.00002
NM_001003841.3(SLC6A19):c.98C>T (p.Pro33Leu) rs766566496 0.00002
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln) rs780837561 0.00002
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly) rs768104200 0.00002
NM_001081.4(CUBN):c.5758G>A (p.Ala1920Thr) rs770772474 0.00002
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val) rs556462218 0.00002
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala) rs558369938 0.00002
NM_001102564.3(IFT43):c.296-5681A>G rs755977535 0.00002
NM_001102564.3(IFT43):c.398G>A (p.Arg133His) rs755396441 0.00002
NM_001102564.3(IFT43):c.502C>T (p.Arg168Trp) rs1483926431 0.00002
NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser) rs1383144531 0.00002
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser) rs762006290 0.00002
NM_001142800.2(EYS):c.6575A>G (p.Asn2192Ser) rs750904267 0.00002
NM_001142800.2(EYS):c.8182G>A (p.Ala2728Thr) rs995862502 0.00002
NM_001201543.2(FAM161A):c.1004G>A (p.Arg335Gln) rs755314585 0.00002
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235 0.00002
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg) rs758376345 0.00002
NM_001297.5(CNGB1):c.2210G>A (p.Arg737His) rs764107600 0.00002
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg) rs1718235188 0.00002
NM_001379270.1(CNGA1):c.1096G>A (p.Val366Met) rs758625358 0.00002
NM_001482.3(GATM):c.494G>A (p.Ser165Asn) rs780398292 0.00002
NM_001482.3(GATM):c.813+6C>T rs771050735 0.00002
NM_001482.3(GATM):c.845G>A (p.Arg282His) rs371447931 0.00002
NM_001482.3(GATM):c.859C>T (p.Pro287Ser) rs773358289 0.00002
NM_003060.4(SLC22A5):c.208C>T (p.Arg70Trp) rs753453677 0.00002
NM_003060.4(SLC22A5):c.951G>A (p.Glu317=) rs1431971523 0.00002
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys) rs758712291 0.00002
NM_003611.3(OFD1):c.2022C>A (p.His674Gln) rs759693810 0.00002
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp) rs776834508 0.00002
NM_003611.3(OFD1):c.730A>G (p.Met244Val) rs770614769 0.00002
NM_003982.4(SLC7A7):c.1468G>C (p.Val490Leu) rs998787372 0.00002
NM_003982.4(SLC7A7):c.589G>A (p.Ala197Thr) rs1005993109 0.00002
NM_004311.4(ARL3):c.472T>G (p.Cys158Gly) rs778332463 0.00002
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val) rs763842574 0.00002
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) rs144946016 0.00002
NM_014249.4(NR2E3):c.371C>T (p.Pro124Leu) rs958455222 0.00002
NM_014251.3(SLC25A13):c.1157G>C (p.Gly386Ala) rs776461118 0.00002
NM_014252.4(SLC25A15):c.397C>T (p.Arg133Trp) rs573469049 0.00002
NM_014270.5(SLC7A9):c.466G>A (p.Ala156Thr) rs1294879564 0.00002
NM_014714.4(IFT140):c.127G>A (p.Val43Met) rs150649451 0.00002
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr) rs373106880 0.00002
NM_014714.4(IFT140):c.2200-20A>G rs760501465 0.00002
NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly) rs758544371 0.00002
NM_014714.4(IFT140):c.2701C>T (p.Arg901Cys) rs778004145 0.00002
NM_014714.4(IFT140):c.2702G>A (p.Arg901His) rs374245105 0.00002
NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser) rs763140298 0.00002
NM_014714.4(IFT140):c.3526G>A (p.Val1176Met) rs764946729 0.00002
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu) rs542803163 0.00002
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His) rs147292597 0.00002
NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val) rs369161842 0.00002
NM_014714.4(IFT140):c.3875T>C (p.Val1292Ala) rs138311751 0.00002
NM_014714.4(IFT140):c.3925G>A (p.Glu1309Lys) rs756142477 0.00002
NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met) rs557586568 0.00002
NM_014714.4(IFT140):c.773C>T (p.Thr258Met) rs140020318 0.00002
NM_015506.2(MMACHC):c.-123A>T rs539415170 0.00002
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) rs201269886 0.00002
NM_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010 0.00002
NM_015662.3(IFT172):c.1005+10A>T rs771534291 0.00002
NM_015662.3(IFT172):c.1238A>G (p.Asn413Ser) rs962054597 0.00002
NM_015662.3(IFT172):c.1367A>T (p.Asn456Ile) rs528303561 0.00002
NM_015662.3(IFT172):c.1414G>A (p.Asp472Asn) rs747544155 0.00002
NM_015662.3(IFT172):c.1973G>A (p.Arg658Gln) rs376890875 0.00002
NM_015662.3(IFT172):c.1997T>C (p.Ile666Thr) rs777173046 0.00002
NM_015662.3(IFT172):c.2176G>A (p.Ala726Thr) rs188779949 0.00002
NM_015662.3(IFT172):c.2204C>A (p.Ala735Asp) rs773174861 0.00002
NM_015662.3(IFT172):c.2437G>A (p.Glu813Lys) rs1036729851 0.00002
NM_015662.3(IFT172):c.2722C>T (p.Arg908Trp) rs745644146 0.00002
NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala) rs138139922 0.00002
NM_015662.3(IFT172):c.3739C>T (p.Arg1247Cys) rs375755957 0.00002
NM_015662.3(IFT172):c.3989G>A (p.Arg1330His) rs202236985 0.00002
NM_015662.3(IFT172):c.403-16A>G rs367657817 0.00002
NM_015662.3(IFT172):c.406C>T (p.Arg136Cys) rs753783467 0.00002
NM_015662.3(IFT172):c.412G>A (p.Ala138Thr) rs1461000488 0.00002
NM_015662.3(IFT172):c.4627A>G (p.Thr1543Ala) rs769170592 0.00002
NM_015662.3(IFT172):c.529G>A (p.Val177Ile) rs754880269 0.00002
NM_015662.3(IFT172):c.721C>T (p.Arg241Trp) rs772012378 0.00002
NM_016335.6(PRODH):c.1763G>A (p.Arg588Lys) rs1239323884 0.00002
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser) rs768699088 0.00002
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe) rs1428784861 0.00002
NM_031885.5(BBS2):c.1333A>G (p.Ile445Val) rs145757541 0.00002
NM_031885.5(BBS2):c.1713G>A (p.Met571Ile) rs755329143 0.00002
NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg) rs149473225 0.00002
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys) rs200021475 0.00002
NM_032861.4(SERAC1):c.1309-19T>G rs372001660 0.00002
NM_054012.4(ASS1):c.490G>A (p.Ala164Thr) rs201445618 0.00002
NM_054012.4(ASS1):c.920G>A (p.Arg307His) rs571576756 0.00002
NM_144596.4(TTC8):c.43T>C (p.Phe15Leu) rs1379428942 0.00002
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys) rs1018209116 0.00002
NM_144596.4(TTC8):c.855A>C (p.Leu285Phe) rs774379732 0.00002
NM_144596.4(TTC8):c.988G>A (p.Ala330Thr) rs568563702 0.00002
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys) rs764206492 0.00002
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met) rs377050184 0.00002
NM_177550.5(SLC13A5):c.1447A>G (p.Ile483Val) rs143719876 0.00002
NM_177965.4(CFAP418):c.155+12G>A rs371521751 0.00002
NM_177965.4(CFAP418):c.395G>A (p.Cys132Tyr) rs759733354 0.00002
NM_177965.4(CFAP418):c.530G>A (p.Arg177Gln) rs748807525 0.00002
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser) rs557111131 0.00002
NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr) rs267598369 0.00002
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909 0.00002
NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe) rs372950392 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_000016.6(ACADM):c.296G>T (p.Gly99Val) rs370608001 0.00001
NM_000017.4(ACADS):c.481A>G (p.Ser161Gly) rs755856935 0.00001
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu) rs369167716 0.00001
NM_000017.4(ACADS):c.958G>T (p.Ala320Ser) rs777939247 0.00001
NM_000017.4(ACADS):c.981_983del (p.Thr328del) rs1347248007 0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met) rs149116708 0.00001
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser) rs374507980 0.00001
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly) rs767063791 0.00001
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala) rs756069599 0.00001
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr) rs151080188 0.00001
NM_000048.4(ASL):c.507G>C (p.Trp169Cys) rs759952363 0.00001
NM_000048.4(ASL):c.772G>A (p.Glu258Lys) rs909358635 0.00001
NM_000071.3(CBS):c.1353G>C (p.Glu451Asp) rs367962613 0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu) rs121964971 0.00001
NM_000071.3(CBS):c.676G>C (p.Ala226Pro) rs763835246 0.00001
NM_000126.4(ETFA):c.39G>A (p.Ala13=) rs776956043 0.00001
NM_000156.6(GAMT):c.293G>A (p.Arg98Gln) rs200052696 0.00001
NM_000156.6(GAMT):c.473G>A (p.Arg158His) rs750195151 0.00001
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000170.3(GLDC):c.2013T>A (p.Asp671Glu) rs762425284 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.67+3G>A rs759265828 0.00001
NM_000187.4(HGD):c.473C>T (p.Pro158Leu) rs375396766 0.00001
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser) rs563776413 0.00001
NM_000255.4(MMUT):c.1261G>A (p.Val421Met) rs746763824 0.00001
NM_000255.4(MMUT):c.1400G>A (p.Arg467Gln) rs147737629 0.00001
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp) rs886061559 0.00001
NM_000255.4(MMUT):c.1828C>T (p.Arg610Cys) rs770978452 0.00001
NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala) rs569669261 0.00001
NM_000255.4(MMUT):c.1970T>C (p.Val657Ala) rs1767102899 0.00001
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919 0.00001
NM_000255.4(MMUT):c.359A>G (p.Asn120Ser) rs776108716 0.00001
NM_000255.4(MMUT):c.406G>A (p.Val136Ile) rs1767739165 0.00001
NM_000255.4(MMUT):c.499G>A (p.Val167Met) rs755709278 0.00001
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800 0.00001
NM_000274.4(OAT):c.461G>A (p.Arg154His) rs121965039 0.00001
NM_000274.4(OAT):c.698A>G (p.Gln233Arg) rs386833615 0.00001
NM_000276.4(OCRL):c.115T>C (p.Tyr39His) rs756670728 0.00001
NM_000276.4(OCRL):c.164T>C (p.Ile55Thr) rs1278754966 0.00001
NM_000276.4(OCRL):c.1889T>C (p.Val630Ala) rs768629676 0.00001
NM_000276.4(OCRL):c.92C>T (p.Thr31Ile) rs762676076 0.00001
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592 0.00001
NM_000281.4(PCBD1):c.179T>C (p.Leu60Pro) rs768330993 0.00001
NM_000281.4(PCBD1):c.294A>G (p.Gln98=) rs773744136 0.00001
NM_000282.4(PCCA):c.1894A>G (p.Thr632Ala) rs376313696 0.00001
NM_000282.4(PCCA):c.484G>A (p.Val162Ile) rs1442819667 0.00001
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr) rs577335767 0.00001
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His) rs121912697 0.00001
NM_000341.4(SLC3A1):c.1406T>G (p.Leu469Arg) rs1469809535 0.00001
NM_000341.4(SLC3A1):c.1657C>G (p.Gln553Glu) rs754053965 0.00001
NM_000341.4(SLC3A1):c.508C>G (p.Leu170Val) rs757439376 0.00001
NM_000341.4(SLC3A1):c.67G>A (p.Gly23Arg) rs750919380 0.00001
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu) rs886044724 0.00001
NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met) rs767980304 0.00001
NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met) rs761017794 0.00001
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val) rs1188515677 0.00001
NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter) rs372234578 0.00001
NM_000353.3(TAT):c.1223C>T (p.Thr408Met) rs200815080 0.00001
NM_000360.4(TH):c.1250C>T (p.Ala417Val) rs756236294 0.00001
NM_000360.4(TH):c.541A>T (p.Thr181Ser) rs774561953 0.00001
NM_000360.4(TH):c.91-892C>T rs775961364 0.00001
NM_000481.4(AMT):c.218G>A (p.Arg73His) rs928833763 0.00001
NM_000481.4(AMT):c.29G>A (p.Arg10His) rs150649086 0.00001
NM_000481.4(AMT):c.890G>A (p.Arg297Gln) rs770048404 0.00001
NM_000531.6(OTC):c.520G>A (p.Ala174Thr) rs72556281 0.00001
NM_000532.5(PCCB):c.1145A>G (p.Asp382Gly) rs201138170 0.00001
NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly) rs770279302 0.00001
NM_000532.5(PCCB):c.1378A>G (p.Ile460Val) rs376998134 0.00001
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) rs756414710 0.00001
NM_000532.5(PCCB):c.876C>G (p.His292Gln) rs776893713 0.00001
NM_000541.5(SAG):c.208C>T (p.Arg70Cys) rs777934036 0.00001
NM_000709.4(BCKDHA):c.277G>A (p.Glu93Lys) rs753452195 0.00001
NM_000709.4(BCKDHA):c.944G>A (p.Arg315Gln) rs201109190 0.00001
NM_001003841.3(SLC6A19):c.1468G>A (p.Gly490Ser) rs775323445 0.00001
NM_001003841.3(SLC6A19):c.985G>A (p.Ala329Thr) rs199795977 0.00001
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg) rs149517557 0.00001
NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro) rs1177156381 0.00001
NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys) rs563035840 0.00001
NM_001081.4(CUBN):c.1418-9C>A rs779016475 0.00001
NM_001081.4(CUBN):c.164C>T (p.Thr55Met) rs774556167 0.00001
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro) rs751139014 0.00001
NM_001081.4(CUBN):c.2306G>A (p.Arg769Gln) rs770625165 0.00001
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg) rs770392464 0.00001
NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr) rs572470830 0.00001
NM_001081.4(CUBN):c.2822G>A (p.Gly941Glu) rs757185023 0.00001
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala) rs778092585 0.00001
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln) rs1037514591 0.00001
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu) rs538984401 0.00001
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr) rs768182223 0.00001
NM_001081.4(CUBN):c.5416C>A (p.His1806Asn) rs146438022 0.00001
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu) rs200277745 0.00001
NM_001081.4(CUBN):c.5982G>A (p.Pro1994=) rs560009723 0.00001
NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val) rs567146793 0.00001
NM_001081.4(CUBN):c.6728C>T (p.Pro2243Leu) rs544059289 0.00001
NM_001081.4(CUBN):c.6821+3A>G rs767078847 0.00001
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp) rs150117913 0.00001
NM_001081.4(CUBN):c.7331G>A (p.Arg2444Gln) rs11254274 0.00001
NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr) rs761577575 0.00001
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val) rs565917798 0.00001
NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn) rs771697506 0.00001
NM_001081.4(CUBN):c.8566G>A (p.Gly2856Ser) rs371139445 0.00001
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met) rs200235278 0.00001
NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser) rs750045664 0.00001
NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln) rs756786140 0.00001
NM_001102564.3(IFT43):c.31C>T (p.Leu11Phe) rs756188997 0.00001
NM_001102564.3(IFT43):c.34C>T (p.Arg12Cys) rs749145719 0.00001
NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser) rs1359937590 0.00001
NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile) rs1414874776 0.00001
NM_001102564.3(IFT43):c.485C>T (p.Ala162Val) rs371422510 0.00001
NM_001102564.3(IFT43):c.498A>T (p.Glu166Asp) rs141866033 0.00001
NM_001102564.3(IFT43):c.540C>A (p.Phe180Leu) rs894168247 0.00001
NM_001102564.3(IFT43):c.605C>T (p.Ala202Val) rs764790125 0.00001
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr) rs201398669 0.00001
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963 0.00001
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg) rs781006387 0.00001
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His) rs755172189 0.00001
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) rs750077868 0.00001
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg) rs1057521770 0.00001
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser) rs1212952550 0.00001
NM_001142800.2(EYS):c.1247G>A (p.Ser416Asn) rs761318837 0.00001
NM_001142800.2(EYS):c.2936A>C (p.Glu979Ala) rs372948826 0.00001
NM_001142800.2(EYS):c.3293C>A (p.Ala1098Glu) rs561156283 0.00001
NM_001142800.2(EYS):c.3542A>G (p.Asn1181Ser) rs1767601964 0.00001
NM_001142800.2(EYS):c.5975A>G (p.Asn1992Ser) rs762475623 0.00001
NM_001142800.2(EYS):c.6446C>A (p.Ser2149Tyr) rs537922564 0.00001
NM_001142800.2(EYS):c.6824A>G (p.His2275Arg) rs765650947 0.00001
NM_001142800.2(EYS):c.853C>A (p.Gln285Lys) rs988163418 0.00001
NM_001142800.2(EYS):c.8793A>G (p.Gln2931=) rs1215751447 0.00001
NM_001164665.2(KIAA1549):c.1070C>A (p.Thr357Lys) rs117227363 0.00001
NM_001201543.2(FAM161A):c.1804G>A (p.Glu602Lys) rs769359884 0.00001
NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu) rs779630954 0.00001
NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp) rs754782061 0.00001
NM_001271.4(CHD2):c.4481A>G (p.Asn1494Ser) rs913833972 0.00001
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys) rs767099765 0.00001
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr) rs375521197 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001297.5(CNGB1):c.1676C>A (p.Thr559Lys) rs768874859 0.00001
NM_001297.5(CNGB1):c.2902C>T (p.Arg968Trp) rs780651730 0.00001
NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys) rs557559740 0.00001
NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr) rs775833241 0.00001
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631 0.00001
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His) rs796053232 0.00001
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val) rs764115258 0.00001
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu) rs558477960 0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) rs575787457 0.00001
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser) rs397514376 0.00001
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp) rs372873919 0.00001
NM_001379270.1(CNGA1):c.1898T>G (p.Leu633Arg) rs756433866 0.00001
NM_001482.3(GATM):c.104C>A (p.Thr35Asn) rs1331986925 0.00001
NM_001482.3(GATM):c.565C>T (p.Arg189Cys) rs377578020 0.00001
NM_001482.3(GATM):c.603A>C (p.Lys201Asn) rs748600834 0.00001
NM_001482.3(GATM):c.616C>T (p.Arg206Cys) rs769023072 0.00001
NM_001482.3(GATM):c.625A>G (p.Lys209Glu) rs1393968087 0.00001
NM_001482.3(GATM):c.710A>G (p.Lys237Arg) rs764877849 0.00001
NM_001482.3(GATM):c.76C>G (p.Arg26Gly) rs1032267288 0.00001
NM_001482.3(GATM):c.875A>G (p.His292Arg) rs747005297 0.00001
NM_001482.3(GATM):c.88G>A (p.Gly30Arg) rs1245821498 0.00001
NM_001482.3(GATM):c.911T>C (p.Ile304Thr) rs1334969328 0.00001
NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met) rs1294236456 0.00001
NM_001875.5(CPS1):c.3740A>C (p.Lys1247Thr) rs754433289 0.00001
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln) rs750670270 0.00001
NM_001875.5(CPS1):c.4002G>A (p.Glu1334=) rs774434356 0.00001
NM_001876.4(CPT1A):c.116G>C (p.Trp39Ser) rs766209790 0.00001
NM_001876.4(CPT1A):c.263A>G (p.Asn88Ser) rs781040444 0.00001
NM_001876.4(CPT1A):c.916G>A (p.Ala306Thr) rs775746905 0.00001
NM_001918.5(DBT):c.673A>C (p.Ile225Leu) rs1472099889 0.00001
NM_002900.3(RBP3):c.722A>T (p.Asp241Val) rs782211857 0.00001
NM_003060.4(SLC22A5):c.1219C>T (p.Leu407Phe) rs754913053 0.00001
NM_003060.4(SLC22A5):c.217G>C (p.Asp73His) rs778137386 0.00001
NM_003060.4(SLC22A5):c.224G>C (p.Arg75Pro) rs757711838 0.00001
NM_003060.4(SLC22A5):c.244C>A (p.Arg82Ser) rs955061461 0.00001
NM_003060.4(SLC22A5):c.391G>A (p.Glu131Lys) rs1321705165 0.00001
NM_003060.4(SLC22A5):c.42G>C (p.Trp14Cys) rs796052036 0.00001
NM_003060.4(SLC22A5):c.637G>A (p.Ala213Thr) rs749602236 0.00001
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121 0.00001
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe) rs774888576 0.00001
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp) rs1235702491 0.00001
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg) rs1158126675 0.00001
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684 0.00001
NM_003611.3(OFD1):c.935+4A>G rs1243725011 0.00001
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly) rs764424025 0.00001
NM_003748.4(ALDH4A1):c.1240A>G (p.Thr414Ala) rs746859503 0.00001
NM_003748.4(ALDH4A1):c.1369G>A (p.Val457Ile) rs199828375 0.00001
NM_003982.4(SLC7A7):c.1189A>G (p.Ile397Val) rs756936473 0.00001
NM_003982.4(SLC7A7):c.1403G>A (p.Arg468Gln) rs746907619 0.00001
NM_003982.4(SLC7A7):c.1451A>G (p.Gln484Arg) rs773635994 0.00001
NM_003982.4(SLC7A7):c.242T>C (p.Leu81Pro) rs755890052 0.00001
NM_003982.4(SLC7A7):c.313G>A (p.Ala105Thr) rs775943127 0.00001
NM_003982.4(SLC7A7):c.860T>G (p.Met287Arg) rs755142027 0.00001
NM_004113.6(FGF12):c.125-3C>G rs371917110 0.00001
NM_004183.4(BEST1):c.1532A>G (p.Lys511Arg) rs1199787091 0.00001
NM_004408.4(DNM1):c.650G>A (p.Arg217His) rs753953686 0.00001
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr) rs770140708 0.00001
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg) rs989125087 0.00001
NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp) rs774810601 0.00001
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala) rs201067972 0.00001
NM_004483.5(GCSH):c.364G>A (p.Glu122Lys) rs753037667 0.00001
NM_004937.3(CTNS):c.140+3A>G rs778641729 0.00001
NM_004937.3(CTNS):c.140G>A (p.Arg47Gln) rs745744798 0.00001
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp) rs754433265 0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) rs768600603 0.00001
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys) rs764538705 0.00001
NM_004937.3(CTNS):c.823G>A (p.Ala275Thr) rs752869556 0.00001
NM_004937.3(CTNS):c.82G>C (p.Val28Leu) rs759921102 0.00001
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) rs781783048 0.00001
NM_005881.4(BCKDK):c.904A>G (p.Ile302Val) rs201164597 0.00001
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val) rs1033920857 0.00001
NM_006269.2(RP1):c.1661G>A (p.Ser554Asn) rs1252073669 0.00001
NM_006623.4(PHGDH):c.1209+4C>T rs199611972 0.00001
NM_006907.4(PYCR1):c.790C>T (p.Arg264Cys) rs770539885 0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) rs777130500 0.00001
NM_014003.4(DHX38):c.2065G>T (p.Ala689Ser) rs1408544161 0.00001
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln) rs750899715 0.00001
NM_014249.4(NR2E3):c.164G>A (p.Ser55Asn) rs1420894727 0.00001
NM_014249.4(NR2E3):c.67G>C (p.Ala23Pro) rs771928643 0.00001
NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg) rs548769905 0.00001
NM_014270.5(SLC7A9):c.302T>A (p.Met101Lys) rs771811712 0.00001
NM_014270.5(SLC7A9):c.922T>C (p.Phe308Leu) rs770811201 0.00001
NM_014336.5(AIPL1):c.828G>C (p.Glu276Asp) rs772357501 0.00001
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp) rs754373519 0.00001
NM_014714.4(IFT140):c.1301C>T (p.Thr434Met) rs762293142 0.00001
NM_014714.4(IFT140):c.1322G>A (p.Arg441His) rs776567773 0.00001
NM_014714.4(IFT140):c.1440C>G (p.Phe480Leu) rs770727161 0.00001
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile) rs767571875 0.00001
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile) rs1321089981 0.00001
NM_014714.4(IFT140):c.1778A>C (p.Asn593Thr) rs775630184 0.00001
NM_014714.4(IFT140):c.1807G>A (p.Asp603Asn) rs138674110 0.00001
NM_014714.4(IFT140):c.1869G>C (p.Glu623Asp) rs2033705618 0.00001
NM_014714.4(IFT140):c.2053C>T (p.Arg685Cys) rs778368172 0.00001
NM_014714.4(IFT140):c.2054G>A (p.Arg685His) rs370263158 0.00001
NM_014714.4(IFT140):c.2318G>A (p.Arg773Gln) rs140458893 0.00001
NM_014714.4(IFT140):c.2447G>A (p.Arg816Gln) rs536061072 0.00001
NM_014714.4(IFT140):c.2455G>A (p.Val819Met) rs766515079 0.00001
NM_014714.4(IFT140):c.2509C>T (p.Arg837Cys) rs754073086 0.00001
NM_014714.4(IFT140):c.2545G>A (p.Val849Met) rs771662799 0.00001
NM_014714.4(IFT140):c.257C>T (p.Thr86Met) rs1159315989 0.00001
NM_014714.4(IFT140):c.2690G>A (p.Arg897His) rs745863942 0.00001
NM_014714.4(IFT140):c.2718C>G (p.Arg906=) rs780540683 0.00001
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser) rs566450108 0.00001
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys) rs143720412 0.00001
NM_014714.4(IFT140):c.2921C>T (p.Ala974Val) rs745576178 0.00001
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln) rs766316995 0.00001
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) rs546498421 0.00001
NM_014714.4(IFT140):c.3218A>G (p.Tyr1073Cys) rs777230794 0.00001
NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr) rs760652531 0.00001
NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu) rs772423904 0.00001
NM_014714.4(IFT140):c.3563G>A (p.Arg1188Gln) rs780533679 0.00001
NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg) rs754978656 0.00001
NM_014714.4(IFT140):c.3633G>C (p.Lys1211Asn) rs771772194 0.00001
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp) rs773768491 0.00001
NM_014714.4(IFT140):c.3913G>A (p.Gly1305Arg) rs755596826 0.00001
NM_014714.4(IFT140):c.3958A>G (p.Lys1320Glu) rs776809726 0.00001
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val) rs376151586 0.00001
NM_014714.4(IFT140):c.4076A>G (p.Gln1359Arg) rs907401737 0.00001
NM_014714.4(IFT140):c.4267G>A (p.Val1423Met) rs756711276 0.00001
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn) rs777181948 0.00001
NM_014714.4(IFT140):c.489C>T (p.Gly163=) rs776597097 0.00001
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr) rs555382397 0.00001
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe) rs1442341163 0.00001
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr) rs778404277 0.00001
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile) rs772225967 0.00001
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly) rs1217366809 0.00001
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr) rs759921519 0.00001
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala) rs780926592 0.00001
NM_015662.3(IFT172):c.1058A>G (p.Tyr353Cys) rs749207320 0.00001
NM_015662.3(IFT172):c.1099C>T (p.Arg367Cys) rs755816980 0.00001
NM_015662.3(IFT172):c.1160T>G (p.Leu387Arg) rs745554539 0.00001
NM_015662.3(IFT172):c.1295G>A (p.Arg432His) rs1327376049 0.00001
NM_015662.3(IFT172):c.1417C>G (p.Leu473Val) rs772607856 0.00001
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile) rs771104054 0.00001
NM_015662.3(IFT172):c.1609G>A (p.Val537Met) rs868020223 0.00001
NM_015662.3(IFT172):c.167A>C (p.Lys56Thr) rs780205001 0.00001
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln) rs764302265 0.00001
NM_015662.3(IFT172):c.178A>G (p.Met60Val) rs758377122 0.00001
NM_015662.3(IFT172):c.1880T>C (p.Met627Thr) rs147288623 0.00001
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr) rs144645349 0.00001
NM_015662.3(IFT172):c.2218C>T (p.Arg740Cys) rs187728607 0.00001
NM_015662.3(IFT172):c.2221C>T (p.Arg741Cys) rs984586780 0.00001
NM_015662.3(IFT172):c.2308A>G (p.Ile770Val) rs145926013 0.00001
NM_015662.3(IFT172):c.2695G>A (p.Ala899Thr) rs776148073 0.00001
NM_015662.3(IFT172):c.2875A>G (p.Lys959Glu) rs1271431771 0.00001
NM_015662.3(IFT172):c.2897G>C (p.Arg966Thr) rs1009534874 0.00001
NM_015662.3(IFT172):c.2998C>G (p.Pro1000Ala) rs569281478 0.00001
NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr) rs560379580 0.00001
NM_015662.3(IFT172):c.3196C>T (p.Arg1066Trp) rs148997142 0.00001
NM_015662.3(IFT172):c.3244G>A (p.Gly1082Arg) rs1008321384 0.00001
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser) rs146615936 0.00001
NM_015662.3(IFT172):c.3622C>T (p.Arg1208Trp) rs779395435 0.00001
NM_015662.3(IFT172):c.3752A>T (p.Asp1251Val) rs1665910456 0.00001
NM_015662.3(IFT172):c.3767A>G (p.Gln1256Arg) rs765703265 0.00001
NM_015662.3(IFT172):c.4034T>C (p.Ile1345Thr) rs766061673 0.00001
NM_015662.3(IFT172):c.403G>A (p.Val135Ile) rs201476743 0.00001
NM_015662.3(IFT172):c.421A>G (p.Lys141Glu) rs760582917 0.00001
NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala) rs761701917 0.00001
NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys) rs764604255 0.00001
NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser) rs777980611 0.00001
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln) rs201840472 0.00001
NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln) rs549415233 0.00001
NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln) rs749884570 0.00001
NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe) rs917873749 0.00001
NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu) rs146309780 0.00001
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys) rs544727246 0.00001
NM_016335.6(PRODH):c.1615+1G>C rs745902339 0.00001
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu) rs761638116 0.00001
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln) rs768700187 0.00001
NM_017739.4(POMGNT1):c.652+5C>T rs771669680 0.00001
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442 0.00001
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys) rs1577245387 0.00001
NM_020166.5(MCCC1):c.793C>T (p.His265Tyr) rs767642062 0.00001
NM_020208.4(SLC6A20):c.512C>T (p.Ala171Val) rs781203780 0.00001
NM_022367.4(SEMA4A):c.1685C>T (p.Pro562Leu) rs780625142 0.00001
NM_025136.4(OPA3):c.123C>G (p.Ile41Met) rs763083098 0.00001
NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser) rs773720173 0.00001
NM_031885.5(BBS2):c.116A>G (p.Lys39Arg) rs779677560 0.00001
NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser) rs368138622 0.00001
NM_031885.5(BBS2):c.1439G>A (p.Arg480Gln) rs772380071 0.00001
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val) rs374028829 0.00001
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys) rs752749569 0.00001
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr) rs771822557 0.00001
NM_031885.5(BBS2):c.2095C>T (p.Arg699Trp) rs1003841433 0.00001
NM_031885.5(BBS2):c.334T>C (p.Phe112Leu) rs772864503 0.00001
NM_031885.5(BBS2):c.941-20G>A rs760109919 0.00001
NM_031885.5(BBS2):c.986T>C (p.Met329Thr) rs201146063 0.00001
NM_144596.4(TTC8):c.1133T>C (p.Met378Thr) rs1003053014 0.00001
NM_144596.4(TTC8):c.1215T>G (p.His405Gln) rs753212470 0.00001
NM_144596.4(TTC8):c.1363C>A (p.Gln455Lys) rs773278542 0.00001
NM_144596.4(TTC8):c.1402C>T (p.His468Tyr) rs148602884 0.00001
NM_144596.4(TTC8):c.145-10T>C rs754997963 0.00001
NM_144596.4(TTC8):c.452T>A (p.Ile151Asn) rs774233751 0.00001
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=) rs770462636 0.00001
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser) rs538620581 0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238 0.00001
NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg) rs904836940 0.00001
NM_177550.5(SLC13A5):c.1541T>C (p.Val514Ala) rs776701159 0.00001
NM_177965.4(CFAP418):c.134C>G (p.Ala45Gly) rs1197547920 0.00001
NM_177965.4(CFAP418):c.414G>A (p.Leu138=) rs150592488 0.00001
NM_177965.4(CFAP418):c.556A>G (p.Arg186Gly) rs1483148451 0.00001
NM_177965.4(CFAP418):c.65T>C (p.Leu22Pro) rs767780150 0.00001
NM_178857.6(RP1L1):c.202C>T (p.Leu68Phe) rs902459185 0.00001
NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val) rs752892659 0.00001
NM_183050.4(BCKDHB):c.529T>C (p.Cys177Arg) rs398124583 0.00001
NM_201253.3(CRB1):c.127T>C (p.Ser43Pro) rs1254919944 0.00001
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala) rs375590765 0.00001
NM_201253.3(CRB1):c.1732G>C (p.Val578Leu) rs769859765 0.00001
NM_201253.3(CRB1):c.2677-343G>A rs760861776 0.00001
NM_201253.3(CRB1):c.3149G>A (p.Arg1050Lys) rs1482942636 0.00001
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp) rs1665481687 0.00001
NM_201253.3(CRB1):c.635G>T (p.Cys212Phe) rs1658699227 0.00001
NM_201253.3(CRB1):c.976C>T (p.His326Tyr) rs773386179 0.00001
NM_201548.5(CERKL):c.1034G>A (p.Arg345Gln) rs727503856 0.00001
NM_205861.3(DHDDS):c.139C>T (p.Arg47Trp) rs750366746 0.00001
NM_205861.3(DHDDS):c.440A>G (p.Lys147Arg) rs201280820 0.00001
NM_206933.4(USH2A):c.10182+5T>C rs1049628868 0.00001
NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn) rs1373104511 0.00001
NM_206933.4(USH2A):c.12316G>A (p.Gly4106Arg) rs1174206381 0.00001
NM_206933.4(USH2A):c.12359G>A (p.Arg4120His) rs188008529 0.00001
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His) rs147304271 0.00001
NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe) rs750512832 0.00001
NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met) rs1453273341 0.00001
NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys) rs746221227 0.00001
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys) rs1268140508 0.00001
NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu) rs201631375 0.00001
NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser) rs55838724 0.00001
NM_206933.4(USH2A):c.14542C>T (p.Arg4848Trp) rs757728612 0.00001
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789 0.00001
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys) rs766759858 0.00001
NM_206933.4(USH2A):c.2139C>T (p.Gly713=) rs765293412 0.00001
NM_206933.4(USH2A):c.232T>G (p.Phe78Val) rs775094277 0.00001
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys) rs749621457 0.00001
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met) rs201190539 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.5443A>G (p.Ser1815Gly) rs940913250 0.00001
NM_206933.4(USH2A):c.8021C>A (p.Thr2674Asn) rs754677752 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly) rs1553123872
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) rs202078273
NM_000017.4(ACADS):c.203C>T (p.Ala68Val) rs148789330
NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr) rs1064793382
NM_000018.4(ACADVL):c.1147C>G (p.Leu383Val) rs756194870
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe) rs1161495077
NM_000018.4(ACADVL):c.65C>G (p.Ser22Trp) rs727503788
NM_000026.4(ADSL):c.271C>T (p.His91Tyr) rs755518176
NM_000048.4(ASL):c.916C>T (p.Arg306Trp) rs868834862
NM_000071.3(CBS):c.1080_1081delinsTA (p.Ala361Thr) rs1555873407
NM_000071.3(CBS):c.622T>C (p.Trp208Arg) rs1060500683
NM_000071.3(CBS):c.671G>T (p.Arg224Leu) rs761647392
NM_000071.3(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000071.3(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000156.6(GAMT):c.463C>G (p.His155Asp) rs1374777721
NM_000156.6(GAMT):c.509A>G (p.Asn170Ser) rs202199674
NM_000156.6(GAMT):c.578A>G (p.Gln193Arg) rs2082607477
NM_000156.6(GAMT):c.650C>A (p.Pro217Gln) rs139890971
NM_000159.4(GCDH):c.278A>G (p.His93Arg) rs398123192
NM_000161.3(GCH1):c.16G>T (p.Val6Leu) rs1413964407
NM_000170.3(GLDC):c.1484_1489del rs778109389
NM_000170.3(GLDC):c.861+5G>C rs192663616
NM_000182.5(HADHA):c.1969G>T (p.Ala657Ser) rs374174659
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs) rs1553311633
NM_000187.4(HGD):c.1120G>C (p.Asp374His) rs981454067
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly) rs754437215
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
NM_000254.3(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000255.4(MMUT):c.-35G>T rs483352795
NM_000255.4(MMUT):c.1415C>T (p.Ala472Val) rs747589392
NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro) rs368746965
NM_000255.4(MMUT):c.1670G>A (p.Arg557Gln) rs756389945
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile) rs1767776360
NM_000255.4(MMUT):c.733A>G (p.Ile245Val) rs754464973
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu) rs386833595
NM_000274.4(OAT):c.614A>G (p.Asp205Gly) rs375157197
NM_000276.4(OCRL):c.561G>A (p.Met187Ile) rs916507337
NM_000277.3(PAH):c.1120A>G (p.Ile374Val) rs769076484
NM_000277.3(PAH):c.168G>A (p.Glu56=) rs199475567
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr) rs62508617
NM_000282.4(PCCA):c.1138T>C (p.Tyr380His) rs1303977643
NM_000317.3(PTS):c.118T>C (p.Phe40Leu) rs1555198118
NM_000317.3(PTS):c.308T>C (p.Val103Ala) rs1555198459
NM_000320.3(QDPR):c.296-15G>T rs776479029
NM_000320.3(QDPR):c.662G>A (p.Arg221Gln) rs1478668973
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu) rs368796166
NM_000341.4(SLC3A1):c.166G>A (p.Glu56Lys) rs886056067
NM_000341.4(SLC3A1):c.24A>C (p.Arg8Ser) rs376615998
NM_000341.4(SLC3A1):c.290T>C (p.Val97Ala) rs147701210
NM_000341.4(SLC3A1):c.566C>A (p.Thr189Lys) rs140317484
NM_000341.4(SLC3A1):c.685C>T (p.Arg229Trp) rs758636942
NM_000341.4(SLC3A1):c.851A>T (p.Asp284Val) rs933907652
NM_000350.3(ABCA4):c.1792G>A (p.Val598Met) rs201838557
NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu) rs1801581
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro) rs2100993895
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1318G>T (p.Ala440Ser) rs374465917
NM_000360.4(TH):c.1380C>A (p.Asp460Glu) rs748364426
NM_000360.4(TH):c.344C>T (p.Thr115Ile) rs756013579
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln) rs776918069
NM_000709.4(BCKDHA):c.495G>A (p.Met165Ile) rs754327984
NM_001003841.3(SLC6A19):c.1003G>A (p.Asp335Asn) rs147646554
NM_001003841.3(SLC6A19):c.1325C>A (p.Pro442His) rs1286047743
NM_001003841.3(SLC6A19):c.1451T>C (p.Leu484Pro) rs905741990
NM_001003841.3(SLC6A19):c.640C>G (p.Arg214Gly) rs201070872
NM_001003841.3(SLC6A19):c.767C>T (p.Thr256Met) rs375879452
NM_001003841.3(SLC6A19):c.95G>A (p.Arg32Gln) rs190631924
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr) rs1420546201
NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del) rs745428229
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser) rs139051724
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg) rs2131869531
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr) rs1042319182
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val) rs1325181765
NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala) rs780012075
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val) rs1482983523
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg) rs1243565121
NM_001081.4(CUBN):c.5580T>A (p.His1860Gln) rs980358703
NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu) rs376970710
NM_001081.4(CUBN):c.5965G>A (p.Val1989Met) rs368951850
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser) rs569527072
NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser) rs942411004
NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg) rs1184270888
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu) rs202229367
NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val) rs2131430542
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu) rs2131420669
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly) rs138719573
NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys) rs776120367
NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro) rs1330242492
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys) rs768768744
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu) rs748418783
NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu) rs2057721231
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile) rs1085307557
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) rs554393704
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.3634T>C (p.Cys1212Arg) rs536260976
NM_001142800.2(EYS):c.6934C>T (p.Leu2312Phe) rs564315274
NM_001142800.2(EYS):c.7826G>C (p.Cys2609Ser) rs755966517
NM_001142800.2(EYS):c.953A>C (p.Tyr318Ser) rs772989862
NM_001201543.2(FAM161A):c.1484G>A (p.Arg495His) rs201998260
NM_001243279.3(ACSF3):c.-8T>A rs1210097201
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro) rs140328142
NM_001243279.3(ACSF3):c.628A>C (p.Lys210Gln) rs538548478
NM_001271.4(CHD2):c.2973G>A (p.Gln991=) rs903186613
NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile) rs1022097029
NM_001278293.3(ARL6):c.143T>A (p.Leu48His) rs895572972
NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys) rs201736026
NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser) rs1160066733
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly) rs767190021
NM_001352514.2(HLCS):c.2600del (p.Leu867fs) rs761447836
NM_001367823.1(ARHGEF18):c.1105G>C (p.Gly369Arg) rs115555106
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala) rs1553654038
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val) rs16892095
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val) rs747187783
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT rs750398145
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu) rs1889422661
NM_001482.3(GATM):c.1042+4T>C rs1191624574
NM_001482.3(GATM):c.752C>T (p.Pro251Leu) rs1424827158
NM_001875.5(CPS1):c.3250G>A (p.Asp1084Asn) rs777363145
NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu) rs762494955
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro) rs398123653
NM_001876.4(CPT1A):c.1793G>A (p.Arg598Gln) rs878856345
NM_001958.5(EEF1A2):c.1345G>A (p.Gly449Ser) rs2082362096
NM_001985.3(ETFB):c.58-196_58-194del rs768440463
NM_002225.5(IVD):c.148C>G (p.Arg50Gly) rs34695403
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) rs139035272
NM_003042.4(SLC6A1):c.152T>A (p.Phe51Tyr) rs1553687887
NM_003060.4(SLC22A5):c.*678G>T rs148673968
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys) rs1183338050
NM_003060.4(SLC22A5):c.1492C>A (p.Leu498Met) rs183379391
NM_003060.4(SLC22A5):c.451G>T (p.Val151Leu) rs386134193
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser) rs1319889867
NM_003060.4(SLC22A5):c.800G>A (p.Gly267Glu) rs775430253
NM_003060.4(SLC22A5):c.990_1016del (p.Leu332_Ile340del) rs1561574113
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr) rs2147032761
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly) rs2047794483
NM_003748.4(ALDH4A1):c.12_17del (p.4PA[1]) rs768891033
NM_003982.4(SLC7A7):c.1004T>C (p.Phe335Ser) rs11568424
NM_003982.4(SLC7A7):c.1136T>G (p.Phe379Cys) rs1160393188
NM_003982.4(SLC7A7):c.1211G>A (p.Arg404His) rs201305817
NM_003982.4(SLC7A7):c.1520A>G (p.Asp507Gly) rs1055499594
NM_003982.4(SLC7A7):c.269A>G (p.Tyr90Cys) rs375791337
NM_003982.4(SLC7A7):c.352A>T (p.Ile118Phe) rs750589845
NM_003982.4(SLC7A7):c.360_361delinsAA (p.Trp121Arg) rs1064797037
NM_003982.4(SLC7A7):c.554A>G (p.Asp185Gly) rs2139397401
NM_003982.4(SLC7A7):c.896C>G (p.Thr299Ser) rs1409622896
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr) rs1175266968
NM_004744.5(LRAT):c.382G>C (p.Asp128His) rs1732845050
NM_004937.3(CTNS):c.425_427del (p.Phe142del) rs1178364162
NM_004937.3(CTNS):c.691C>A (p.Gln231Lys) rs1463026342
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu) rs1567713916
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter) rs763353895
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val) rs2065388763
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005629.4(SLC6A8):c.1794C>G (p.Ile598Met) rs782587560
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) rs794727869
NM_006899.5(IDH3B):c.1115TCA[1] (p.Ile373del) rs781157150
NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter) rs745313320
NM_012213.3(MLYCD):c.929G>C (p.Arg310Pro) rs146465073
NM_012418.4(FSCN2):c.1105G>A (p.Gly369Ser) rs376938035
NM_012418.4(FSCN2):c.829G>A (p.Val277Ile) rs181420326
NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met) rs139454557
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His) rs143509747
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile) rs371533517
NM_014003.4(DHX38):c.605A>G (p.His202Arg) rs2144134233
NM_014014.5(SNRNP200):c.1951C>T (p.Leu651Phe) rs2104352435
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs) rs917547961
NM_014249.4(NR2E3):c.1127C>A (p.Pro376Gln) rs527428190
NM_014249.4(NR2E3):c.1127C>T (p.Pro376Leu) rs527428190
NM_014270.5(SLC7A9):c.992C>T (p.Ala331Val) rs768466784
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474
NM_014384.3(ACAD8):c.235C>G (p.Arg79Gly) rs377629003
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr) rs1188370536
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr) rs747510464
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val) rs190034269
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser) rs2034677396
NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro) rs762399912
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr) rs528350505
NM_014714.4(IFT140):c.1945G>A (p.Val649Met) rs534052238
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met) rs2033196611
NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr) rs2141185138
NM_014714.4(IFT140):c.2612G>A (p.Arg871His) rs905240853
NM_014714.4(IFT140):c.2617G>C (p.Asp873His) rs560840162
NM_014714.4(IFT140):c.2627A>G (p.Asn876Ser) rs775517181
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly) rs554196965
NM_014714.4(IFT140):c.2682C>A (p.His894Gln) rs774192784
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu) rs200561100
NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del) rs1489901262
NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys) rs767290624
NM_014714.4(IFT140):c.3142_3144del rs754866110
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn) rs148194893
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln) rs201884886
NM_014714.4(IFT140):c.328C>A (p.Arg110Ser) rs140159548
NM_014714.4(IFT140):c.328C>T (p.Arg110Cys) rs140159548
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val) rs370255916
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val) rs566568065
NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4]) rs746697405
NM_014714.4(IFT140):c.4159G>A (p.Val1387Met) rs142668269
NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu) rs142668269
NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp) rs138697817
NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del) rs760889117
NM_014714.4(IFT140):c.481C>A (p.Pro161Thr) rs148462329
NM_014714.4(IFT140):c.482C>A (p.Pro161His) rs191927317
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys) rs752659125
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg) rs145858131
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr) rs2149323547
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln) rs369335868
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val) rs74365027
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val) rs375442063
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser) rs533256855
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015662.3(IFT172):c.1330C>T (p.Arg444Cys) rs1038040281
NM_015662.3(IFT172):c.1435A>G (p.Ile479Val) rs1667635292
NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu) rs765731241
NM_015662.3(IFT172):c.1931C>A (p.Ala644Glu) rs371919234
NM_015662.3(IFT172):c.2264G>C (p.Arg755Pro) rs78631901
NM_015662.3(IFT172):c.2839A>G (p.Met947Val) rs774401568
NM_015662.3(IFT172):c.3465G>C (p.Glu1155Asp) rs935403723
NM_015662.3(IFT172):c.3623G>C (p.Arg1208Pro) rs758387302
NM_015662.3(IFT172):c.3632T>G (p.Leu1211Trp) rs532669006
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His) rs746597294
NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile) rs145507269
NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del) rs763826196
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val) rs543062539
NM_015662.3(IFT172):c.44G>T (p.Gly15Val) rs1572838053
NM_015662.3(IFT172):c.463G>A (p.Val155Met) rs149969430
NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del) rs1664979213
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val) rs529850410
NM_015662.3(IFT172):c.956G>A (p.Arg319Lys) rs1002834084
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val) rs533388008
NM_015702.3(MMADHC):c.609+6T>C rs1682704400
NM_016247.4(IMPG2):c.2887A>G (p.Ser963Gly) rs941586075
NM_016335.6(PRODH):c.1163C>T (p.Pro388Leu) rs147233639
NM_016335.6(PRODH):c.130_156del (p.Thr44_Ala52del) rs949036081
NM_016335.6(PRODH):c.1402G>A (p.Glu468Lys) rs372618210
NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter) rs372187772
NM_016335.6(PRODH):c.1772G>A (p.Arg591Gln) rs779412444
NM_016335.6(PRODH):c.1A>G (p.Met1Val) rs1036292619
NM_016335.6(PRODH):c.268G>A (p.Glu90Lys) rs1023813331
NM_016335.6(PRODH):c.803C>T (p.Ala268Val) rs375358521
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln) rs765857107
NM_016373.4(WWOX):c.341T>C (p.Met114Thr) rs761906386
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) rs11545029
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser) rs199511589
NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_017739.4(POMGNT1):c.1462C>G (p.Arg488Gly) rs727504103
NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro) rs141421141
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln) rs1046275062
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser) rs2149843427
NM_020208.4(SLC6A20):c.1601T>G (p.Leu534Arg) rs1553659698
NM_020208.4(SLC6A20):c.398C>T (p.Thr133Met) rs145010504
NM_020208.4(SLC6A20):c.666T>A (p.Asn222Lys) rs375971612
NM_020208.4(SLC6A20):c.74T>C (p.Leu25Pro) rs763259500
NM_020686.6(ABAT):c.677C>T (p.Ala226Val) rs372807667
NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu) rs142416793
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His) rs1745481314
NM_031885.3(BBS2):c.-163C>T rs750434595
NM_031885.5(BBS2):c.1123G>C (p.Gly375Arg) rs1018314879
NM_031885.5(BBS2):c.1190C>T (p.Thr397Ile) rs368138622
NM_031885.5(BBS2):c.1208G>T (p.Arg403Leu) rs192007013
NM_031885.5(BBS2):c.142C>T (p.Arg48Trp) rs1030249829
NM_031885.5(BBS2):c.1543G>T (p.Gly515Cys) rs181107019
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys) rs556899786
NM_031885.5(BBS2):c.1895G>A (p.Arg632His) rs138043021
NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys) rs753656568
NM_031885.5(BBS2):c.365C>T (p.Ala122Val) rs17856449
NM_031885.5(BBS2):c.485A>G (p.Asn162Ser) rs749148042
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) rs1597020018
NM_031885.5(BBS2):c.8T>C (p.Leu3Pro) rs1964870972
NM_031885.5(BBS2):c.974G>A (p.Arg325Lys) rs1964301074
NM_054012.4(ASS1):c.363G>A (p.Lys121=) rs2131874200
NM_144596.4(TTC8):c.488C>T (p.Thr163Met) rs758942370
NM_144596.4(TTC8):c.983C>T (p.Ala328Val) rs755533153
NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg) rs1563386838
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys) rs1803172725
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu) rs727503962
NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser) rs895867414
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_177965.4(CFAP418):c.317C>T (p.Pro106Leu) rs376587956
NM_177965.4(CFAP418):c.331G>A (p.Gly111Arg) rs757837788
NM_177965.4(CFAP418):c.422G>A (p.Ser141Asn) rs2132155183
NM_177965.4(CFAP418):c.43A>G (p.Lys15Glu) rs1023654494
NM_177965.4(CFAP418):c.449C>G (p.Ser150Trp) rs149558233
NM_177965.4(CFAP418):c.602G>C (p.Arg201Pro) rs115660509
NM_183050.4(BCKDHB):c.951+4T>C rs778135997
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala) rs1553260314
NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu) rs1034422363
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr) rs1658699227
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys) rs569826109
NM_203288.2(RP9):c.32G>A (p.Gly11Glu) rs575755283
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg) rs372802465
NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly) rs775560370
NM_206933.4(USH2A):c.14632T>G (p.Cys4878Gly) rs779400517
NM_206933.4(USH2A):c.15577del (p.Glu5193fs) rs1553313073
NM_206933.4(USH2A):c.188G>C (p.Arg63Pro) rs369806765
NM_206933.4(USH2A):c.1891G>C (p.Asp631His) rs552400144
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln) rs372993160
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly) rs775803174
NM_206933.4(USH2A):c.5708A>G (p.Asn1903Ser) rs1162070622
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn) rs747652397
NM_206933.4(USH2A):c.6134A>T (p.His2045Leu) rs111033514
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val) rs201526850
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu) rs1017425051
NM_206933.4(USH2A):c.7238A>C (p.Asn2413Thr) rs780840434
NM_206933.4(USH2A):c.7765C>G (p.His2589Asp) rs747492773
NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile) rs137876918

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