ClinVar Miner

List of variants reported as uncertain significance for amino acid metabolism disease by Genome-Nilou Lab

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1021
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000018.3(ACADVL):c.-64T>C rs77051465 0.00545
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp) rs139822086 0.00273
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000018.4(ACADVL):c.-36A>G rs372592554 0.00243
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_000372.5(TYR):c.1366+4A>G rs61754398 0.00175
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_000277.3(PAH):c.*19G>T rs372637021 0.00103
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr) rs112029370 0.00064
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu) rs145792427 0.00063
NM_022367.4(SEMA4A):c.1451G>C (p.Gly484Ala) rs148744804 0.00062
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile) rs11568513 0.00061
NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr) rs149730454 0.00056
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316 0.00056
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_032861.4(SERAC1):c.1404-3C>G rs367596327 0.00045
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe) rs140648074 0.00044
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950 0.00043
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val) rs28383480 0.00039
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser) rs546442503 0.00039
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr) rs112273610 0.00039
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe) rs201898615 0.00038
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217 0.00036
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr) rs141086188 0.00036
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854 0.00036
NM_032861.4(SERAC1):c.1259T>C (p.Ile420Thr) rs114741005 0.00036
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro) rs142447950 0.00035
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_001902.6(CTH):c.15C>A (p.Asp5Glu) rs143859234 0.00034
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144 0.00031
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala) rs377767450 0.00029
NM_000531.6(OTC):c.941A>C (p.Glu314Ala) rs137899554 0.00028
NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile) rs146047560 0.00026
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly) rs146569216 0.00025
NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile) rs142479732 0.00024
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_000372.5(TYR):c.1446G>C (p.Ala482=) rs3913543 0.00022
NM_001010898.4(SLC6A17):c.1723G>A (p.Val575Met) rs143189177 0.00022
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala) rs144029476 0.00022
NM_206933.4(USH2A):c.7717C>T (p.Arg2573Cys) rs140983855 0.00022
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu) rs200802261 0.00022
NM_000019.4(ACAT1):c.816G>T (p.Gln272His) rs139120939 0.00021
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg) rs150177278 0.00021
NM_003060.4(SLC22A5):c.1053-3C>T rs149201271 0.00021
NM_000071.3(CBS):c.397G>A (p.Asp133Asn) rs539326697 0.00019
NM_003982.4(SLC7A7):c.1400A>T (p.Lys467Met) rs199522527 0.00019
NM_003982.4(SLC7A7):c.1405C>T (p.Pro469Ser) rs201550655 0.00019
NM_006623.4(PHGDH):c.1258G>A (p.Glu420Lys) rs140979375 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) rs142857810 0.00019
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr) rs200469148 0.00019
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe) rs368058316 0.00018
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_003982.4(SLC7A7):c.954A>T (p.Leu318Phe) rs201534081 0.00017
NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met) rs372801738 0.00017
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr) rs150544263 0.00016
NM_206933.4(USH2A):c.8552A>C (p.Asn2851Thr) rs577389392 0.00016
NM_206933.4(USH2A):c.9604C>G (p.Pro3202Ala) rs113786363 0.00016
NM_206933.4(USH2A):c.5330G>A (p.Arg1777Gln) rs541275063 0.00015
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=) rs376416252 0.00014
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met) rs143065058 0.00014
NM_206933.4(USH2A):c.127G>A (p.Val43Met) rs147421006 0.00014
NM_206933.4(USH2A):c.13477C>T (p.Arg4493Cys) rs144543286 0.00014
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys) rs200289497 0.00014
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met) rs143319658 0.00014
NM_206933.4(USH2A):c.7291C>T (p.Pro2431Ser) rs148136966 0.00014
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys) rs141452179 0.00014
NM_000071.3(CBS):c.670C>T (p.Arg224Cys) rs139456571 0.00013
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala) rs754862915 0.00013
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg) rs147085187 0.00013
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val) rs201808654 0.00013
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg) rs376314751 0.00013
NM_206933.4(USH2A):c.6080A>C (p.Asn2027Thr) rs144112891 0.00013
NM_206933.4(USH2A):c.7312G>A (p.Val2438Met) rs370988961 0.00013
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser) rs148032473 0.00012
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu) rs139520739 0.00012
NM_172250.3(MMAA):c.941G>A (p.Arg314His) rs148142853 0.00012
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys) rs200955062 0.00011
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro) rs377359610 0.00011
NM_000372.5(TYR):c.1161T>C (p.Leu387=) rs141967840 0.00011
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655 0.00011
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys) rs141518662 0.00011
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437 0.00011
NM_006623.4(PHGDH):c.1346A>G (p.Asn449Ser) rs141662984 0.00011
NM_006623.4(PHGDH):c.689G>A (p.Arg230His) rs777155018 0.00011
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe) rs779451259 0.00011
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val) rs111761880 0.00011
NM_206933.4(USH2A):c.188G>A (p.Arg63Gln) rs369806765 0.00011
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu) rs141339026 0.00011
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His) rs775471043 0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser) rs371987720 0.00010
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser) rs143898511 0.00010
NM_206933.4(USH2A):c.14567A>G (p.Asn4856Ser) rs139799843 0.00010
NM_206933.4(USH2A):c.4046C>T (p.Ser1349Phe) rs145148501 0.00010
NM_206933.4(USH2A):c.7379G>A (p.Arg2460His) rs368681648 0.00010
NM_206933.4(USH2A):c.7936C>A (p.Pro2646Thr) rs760777446 0.00010
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498 0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_001243279.3(ACSF3):c.391G>A (p.Ala131Thr) rs144411003 0.00009
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile) rs200037593 0.00009
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732 0.00009
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720 0.00009
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys) rs374795215 0.00009
NM_201253.3(CRB1):c.3809A>G (p.Asn1270Ser) rs138667698 0.00009
NM_206933.4(USH2A):c.11923G>A (p.Ala3975Thr) rs372327495 0.00009
NM_206933.4(USH2A):c.12818A>G (p.Tyr4273Cys) rs777874309 0.00009
NM_206933.4(USH2A):c.1981C>G (p.Gln661Glu) rs140955723 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_206933.4(USH2A):c.3226C>T (p.Pro1076Ser) rs139089840 0.00009
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803 0.00009
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=) rs367673752 0.00008
NM_003982.4(SLC7A7):c.250G>A (p.Val84Ile) rs368317123 0.00008
NM_006623.4(PHGDH):c.181G>A (p.Ala61Thr) rs140185619 0.00008
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys) rs142447736 0.00008
NM_177550.5(SLC13A5):c.862G>A (p.Gly288Arg) rs761215437 0.00008
NM_206933.4(USH2A):c.13406A>G (p.Asn4469Ser) rs796610671 0.00008
NM_206933.4(USH2A):c.5318T>A (p.Ile1773Lys) rs371201450 0.00008
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys) rs371685066 0.00008
NM_206933.4(USH2A):c.8096G>A (p.Arg2699Gln) rs748137104 0.00008
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile) rs538620811 0.00007
NM_001010898.4(SLC6A17):c.824G>A (p.Arg275Gln) rs147200498 0.00007
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr) rs759448696 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_003060.4(SLC22A5):c.875A>T (p.Glu292Val) rs371692440 0.00007
NM_006623.4(PHGDH):c.910G>A (p.Val304Met) rs149175408 0.00007
NM_022367.4(SEMA4A):c.1991C>T (p.Pro664Leu) rs200251591 0.00007
NM_022367.4(SEMA4A):c.494C>T (p.Ser165Leu) rs201943133 0.00007
NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln) rs201630132 0.00007
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg) rs199672621 0.00007
NM_206933.4(USH2A):c.191G>A (p.Ser64Asn) rs778199517 0.00007
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040 0.00007
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His) rs201386640 0.00007
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser) rs752811693 0.00007
NM_000017.4(ACADS):c.668C>T (p.Thr223Met) rs143131689 0.00006
NM_000048.4(ASL):c.1045G>A (p.Val349Ile) rs372774556 0.00006
NM_000329.3(RPE65):c.1238G>A (p.Arg413His) rs200950327 0.00006
NM_001918.5(DBT):c.1127G>A (p.Arg376His) rs150934375 0.00006
NM_001918.5(DBT):c.1281+5A>G rs199571242 0.00006
NM_003982.4(SLC7A7):c.1170G>C (p.Trp390Cys) rs370847983 0.00006
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln) rs138085358 0.00006
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg) rs145344767 0.00006
NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys) rs147066269 0.00006
NM_006623.4(PHGDH):c.809G>A (p.Arg270Gln) rs375031910 0.00006
NM_022367.4(SEMA4A):c.1265C>T (p.Thr422Ile) rs145228550 0.00006
NM_022367.4(SEMA4A):c.2251G>A (p.Ala751Thr) rs747089050 0.00006
NM_052845.4(MMAB):c.472G>A (p.Asp158Asn) rs925180956 0.00006
NM_177550.5(SLC13A5):c.752C>T (p.Ala251Val) rs150517372 0.00006
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn) rs937362854 0.00006
NM_206933.4(USH2A):c.10126T>G (p.Tyr3376Asp) rs150617613 0.00006
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.11230A>G (p.Arg3744Gly) rs1426369789 0.00006
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371 0.00006
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys) rs727503718 0.00006
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847 0.00006
NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly) rs753823008 0.00006
NM_206933.4(USH2A):c.13490T>A (p.Phe4497Tyr) rs145719886 0.00006
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile) rs138694314 0.00006
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp) rs370127889 0.00006
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met) rs375429745 0.00006
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn) rs567937233 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.5789G>A (p.Arg1930Gln) rs200348779 0.00006
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val) rs773405046 0.00006
NM_206933.4(USH2A):c.586C>T (p.Pro196Ser) rs756041909 0.00006
NM_206933.4(USH2A):c.6563C>A (p.Thr2188Lys) rs374409616 0.00006
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys) rs375278546 0.00006
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu) rs147333637 0.00006
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266 0.00006
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys) rs754774098 0.00006
NM_206933.4(USH2A):c.9356G>A (p.Arg3119His) rs199885325 0.00006
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys) rs200696560 0.00006
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val) rs374729641 0.00005
NM_000329.3(RPE65):c.565G>A (p.Val189Ile) rs752990312 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_001875.5(CPS1):c.3538G>A (p.Ala1180Thr) rs776047286 0.00005
NM_001918.5(DBT):c.1111G>A (p.Ala371Thr) rs777868718 0.00005
NM_001918.5(DBT):c.572T>G (p.Val191Gly) rs146894954 0.00005
NM_003060.4(SLC22A5):c.892C>T (p.Arg298Cys) rs755114089 0.00005
NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr) rs142988234 0.00005
NM_006623.4(PHGDH):c.916A>G (p.Met306Val) rs587648058 0.00005
NM_006623.4(PHGDH):c.946G>A (p.Val316Met) rs146398308 0.00005
NM_014249.4(NR2E3):c.1096G>A (p.Val366Met) rs150971548 0.00005
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser) rs781133955 0.00005
NM_022367.4(SEMA4A):c.1028T>C (p.Leu343Pro) rs368854370 0.00005
NM_022367.4(SEMA4A):c.86C>T (p.Thr29Met) rs1045906206 0.00005
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe) rs148240351 0.00005
NM_206933.4(USH2A):c.1346G>A (p.Arg449His) rs766715882 0.00005
NM_206933.4(USH2A):c.1816G>C (p.Asp606His) rs111033410 0.00005
NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr) rs145383772 0.00005
NM_206933.4(USH2A):c.7540A>C (p.Asn2514His) rs777618162 0.00005
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile) rs142649882 0.00005
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys) rs149107232 0.00004
NM_000191.3(HMGCL):c.805G>A (p.Ala269Thr) rs368688262 0.00004
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg) rs777758512 0.00004
NM_000360.4(TH):c.599G>A (p.Arg200His) rs201224335 0.00004
NM_000360.4(TH):c.794G>A (p.Arg265Gln) rs199961079 0.00004
NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys) rs201168715 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser) rs552007692 0.00004
NM_003060.4(SLC22A5):c.811G>A (p.Val271Met) rs143013773 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_017739.4(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074 0.00004
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His) rs750965429 0.00004
NM_022367.4(SEMA4A):c.1123C>T (p.Arg375Trp) rs201094714 0.00004
NM_022367.4(SEMA4A):c.1214C>T (p.Thr405Met) rs776231562 0.00004
NM_022367.4(SEMA4A):c.1481G>A (p.Arg494Gln) rs559896573 0.00004
NM_022367.4(SEMA4A):c.247G>C (p.Ala83Pro) rs746991043 0.00004
NM_022367.4(SEMA4A):c.473A>G (p.Asp158Gly) rs200090107 0.00004
NM_022367.4(SEMA4A):c.944C>T (p.Pro315Leu) rs147148406 0.00004
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser) rs144680278 0.00004
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln) rs863224200 0.00004
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly) rs375757326 0.00004
NM_052845.4(MMAB):c.35T>C (p.Leu12Pro) rs533819939 0.00004
NM_177550.5(SLC13A5):c.1582A>G (p.Thr528Ala) rs569395560 0.00004
NM_177550.5(SLC13A5):c.338C>T (p.Thr113Met) rs759069275 0.00004
NM_177550.5(SLC13A5):c.391G>A (p.Val131Ile) rs140389204 0.00004
NM_177550.5(SLC13A5):c.441G>A (p.Met147Ile) rs764711084 0.00004
NM_177550.5(SLC13A5):c.505G>A (p.Gly169Ser) rs199620361 0.00004
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe) rs398124591 0.00004
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu) rs62636286 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_201253.3(CRB1):c.4157A>G (p.Lys1386Arg) rs776191501 0.00004
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met) rs185823130 0.00004
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile) rs201951918 0.00004
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His) rs550096037 0.00004
NM_206933.4(USH2A):c.1388A>G (p.Tyr463Cys) rs139997881 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu) rs727503714 0.00004
NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val) rs753175395 0.00004
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys) rs570446209 0.00004
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=) rs766038321 0.00004
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln) rs192524347 0.00004
NM_206933.4(USH2A):c.2726C>A (p.Pro909His) rs752748453 0.00004
NM_206933.4(USH2A):c.2777G>A (p.Arg926His) rs146916397 0.00004
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala) rs557642490 0.00004
NM_206933.4(USH2A):c.3937A>G (p.Asn1313Asp) rs540537272 0.00004
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His) rs770394440 0.00004
NM_206933.4(USH2A):c.5410A>G (p.Ile1804Val) rs201804063 0.00004
NM_206933.4(USH2A):c.6397T>C (p.Trp2133Arg) rs370643158 0.00004
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu) rs143107117 0.00004
NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp) rs141134147 0.00004
NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys) rs531822235 0.00004
NM_206933.4(USH2A):c.8935G>A (p.Val2979Ile) rs769479181 0.00004
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu) rs397518044 0.00004
NM_000017.4(ACADS):c.1057T>C (p.Ser353Pro) rs796051904 0.00003
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819 0.00003
NM_000191.3(HMGCL):c.349-3C>A rs777476731 0.00003
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile) rs746968587 0.00003
NM_000255.4(MMUT):c.1094A>G (p.Asn365Ser) rs1196513317 0.00003
NM_000282.4(PCCA):c.1730A>G (p.Asn577Ser) rs887791543 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) rs200137189 0.00003
NM_000709.4(BCKDHA):c.910T>C (p.Phe304Leu) rs398123511 0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427 0.00003
NM_001902.6(CTH):c.541G>A (p.Asp181Asn) rs748301555 0.00003
NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp) rs200125400 0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val) rs199689597 0.00003
NM_003060.4(SLC22A5):c.1587-11T>G rs772775759 0.00003
NM_003060.4(SLC22A5):c.377C>A (p.Ser126Tyr) rs568906114 0.00003
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met) rs386134193 0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=) rs386134194 0.00003
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met) rs781721860 0.00003
NM_003060.4(SLC22A5):c.530T>C (p.Met177Thr) rs761866020 0.00003
NM_003982.4(SLC7A7):c.1315G>A (p.Asp439Asn) rs199986641 0.00003
NM_003982.4(SLC7A7):c.595A>G (p.Ile199Val) rs779266344 0.00003
NM_004172.5(SLC1A3):c.510C>G (p.Phe170Leu) rs774420370 0.00003
NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp) rs142622658 0.00003
NM_006623.4(PHGDH):c.932C>T (p.Ser311Phe) rs143340742 0.00003
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His) rs776165339 0.00003
NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met) rs779852958 0.00003
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His) rs764688100 0.00003
NM_177550.5(SLC13A5):c.602G>A (p.Arg201Gln) rs200275193 0.00003
NM_177550.5(SLC13A5):c.877A>G (p.Lys293Glu) rs759034052 0.00003
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile) rs201893755 0.00003
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met) rs201349525 0.00003
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg) rs375485721 0.00003
NM_206933.4(USH2A):c.10387+5C>G rs746536041 0.00003
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln) rs375978706 0.00003
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met) rs564240175 0.00003
NM_206933.4(USH2A):c.13250A>G (p.Tyr4417Cys) rs794727826 0.00003
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu) rs765354805 0.00003
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val) rs376077079 0.00003
NM_206933.4(USH2A):c.15499A>G (p.Met5167Val) rs755573653 0.00003
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro) rs201332729 0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg) rs370430107 0.00003
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu) rs771088957 0.00003
NM_206933.4(USH2A):c.5842C>T (p.Arg1948Cys) rs145647517 0.00003
NM_206933.4(USH2A):c.5941A>G (p.Arg1981Gly) rs775877218 0.00003
NM_206933.4(USH2A):c.7027C>T (p.Arg2343Trp) rs149606872 0.00003
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val) rs527689947 0.00003
NM_206933.4(USH2A):c.9291A>C (p.Lys3097Asn) rs143872133 0.00003
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys) rs576236830 0.00003
NM_206933.4(USH2A):c.9583G>A (p.Gly3195Arg) rs149027999 0.00003
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly) rs769233119 0.00003
NM_000017.4(ACADS):c.1105G>A (p.Gly369Ser) rs145466253 0.00002
NM_000017.4(ACADS):c.826G>A (p.Ala276Thr) rs199717731 0.00002
NM_000048.4(ASL):c.1165G>A (p.Glu389Lys) rs1465800300 0.00002
NM_000048.4(ASL):c.243G>C (p.Leu81=) rs774204716 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_000191.3(HMGCL):c.583A>G (p.Met195Val) rs764360500 0.00002
NM_000191.3(HMGCL):c.733A>T (p.Thr245Ser) rs764926275 0.00002
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile) rs761468576 0.00002
NM_000282.4(PCCA):c.2150C>T (p.Thr717Ile) rs548026367 0.00002
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879 0.00002
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=) rs747338200 0.00002
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235 0.00002
NM_001875.5(CPS1):c.2026G>A (p.Glu676Lys) rs753441052 0.00002
NM_001918.5(DBT):c.401C>T (p.Pro134Leu) rs1131691488 0.00002
NM_003060.4(SLC22A5):c.1199G>A (p.Arg400His) rs371219688 0.00002
NM_004937.3(CTNS):c.*259C>T rs771746416 0.00002
NM_004937.3(CTNS):c.187C>T (p.Arg63Cys) rs555311279 0.00002
NM_006623.4(PHGDH):c.1096G>T (p.Ala366Ser) rs138515760 0.00002
NM_006623.4(PHGDH):c.1285G>C (p.Gly429Arg) rs145854744 0.00002
NM_006623.4(PHGDH):c.1406G>A (p.Arg469Gln) rs139764141 0.00002
NM_006623.4(PHGDH):c.400G>A (p.Glu134Lys) rs139129607 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.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010 0.00002
NM_020166.5(MCCC1):c.695G>A (p.Arg232Gln) rs148088842 0.00002
NM_022367.4(SEMA4A):c.1987G>A (p.Val663Ile) rs202048433 0.00002
NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln) rs761068592 0.00002
NM_177550.5(SLC13A5):c.1330C>T (p.Pro444Ser) rs765709852 0.00002
NM_177550.5(SLC13A5):c.1420C>T (p.Pro474Ser) rs777285678 0.00002
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) rs1202091819 0.00002
NM_183050.4(BCKDHB):c.1087T>A (p.Tyr363Asn) rs398124565 0.00002
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser) rs557111131 0.00002
NM_206933.4(USH2A):c.10613G>A (p.Arg3538Gln) rs774844491 0.00002
NM_206933.4(USH2A):c.10633C>T (p.Arg3545Trp) rs145718329 0.00002
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser) rs778158900 0.00002
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His) rs201709470 0.00002
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala) rs754979740 0.00002
NM_206933.4(USH2A):c.12128T>G (p.Val4043Gly) rs376528829 0.00002
NM_206933.4(USH2A):c.12361C>T (p.Arg4121Cys) rs772357461 0.00002
NM_206933.4(USH2A):c.12451G>C (p.Asp4151His) rs747947192 0.00002
NM_206933.4(USH2A):c.12724A>G (p.Thr4242Ala) rs140010020 0.00002
NM_206933.4(USH2A):c.13139C>T (p.Thr4380Ile) rs533179037 0.00002
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile) rs373152283 0.00002
NM_206933.4(USH2A):c.1510C>A (p.His504Asn) rs533024548 0.00002
NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr) rs267598369 0.00002
NM_206933.4(USH2A):c.15575A>T (p.Lys5192Met) rs761474352 0.00002
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn) rs551424240 0.00002
NM_206933.4(USH2A):c.274T>G (p.Ser92Ala) rs192918169 0.00002
NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val) rs768158580 0.00002
NM_206933.4(USH2A):c.3316+5G>C rs1442104013 0.00002
NM_206933.4(USH2A):c.4803A>T (p.Gln1601His) rs761306493 0.00002
NM_206933.4(USH2A):c.5095C>A (p.Gln1699Lys) rs1351926905 0.00002
NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr) rs749333215 0.00002
NM_206933.4(USH2A):c.6448G>T (p.Val2150Phe) rs756234447 0.00002
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027 0.00002
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met) rs776972526 0.00002
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg) rs375744536 0.00002
NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe) rs372950392 0.00002
NM_206933.4(USH2A):c.7517A>G (p.Tyr2506Cys) rs937606032 0.00002
NM_206933.4(USH2A):c.8222A>G (p.Gln2741Arg) rs374456269 0.00002
NM_206933.4(USH2A):c.8486T>C (p.Val2829Ala) rs759063087 0.00002
NM_206933.4(USH2A):c.8741G>A (p.Arg2914Gln) rs760779633 0.00002
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu) rs1467856164 0.00002
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr) rs876658116 0.00002
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val) rs750899958 0.00002
NM_206933.4(USH2A):c.9806G>A (p.Gly3269Asp) rs762076576 0.00002
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu) rs183161718 0.00001
NM_000017.4(ACADS):c.425C>G (p.Pro142Arg) rs148297461 0.00001
NM_000017.4(ACADS):c.449G>T (p.Gly150Val) rs1057524803 0.00001
NM_000017.4(ACADS):c.481A>G (p.Ser161Gly) rs755856935 0.00001
NM_000018.4(ACADVL):c.1575C>A (p.Val525=) rs745996278 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.964G>A (p.Val322Met) rs1257648581 0.00001
NM_000019.4(ACAT1):c.229G>A (p.Glu77Lys) rs772848693 0.00001
NM_000071.3(CBS):c.395G>A (p.Arg132His) rs779011920 0.00001
NM_000108.5(DLD):c.419A>G (p.His140Arg) rs767210810 0.00001
NM_000108.5(DLD):c.65A>G (p.His22Arg) rs914629774 0.00001
NM_000137.4(FAH):c.437A>G (p.Asn146Ser) rs754012972 0.00001
NM_000191.3(HMGCL):c.532G>A (p.Gly178Arg) rs747529727 0.00001
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys) rs1303119110 0.00001
NM_000255.4(MMUT):c.422C>T (p.Ala141Val) rs565348836 0.00001
NM_000277.3(PAH):c.786C>T (p.Val262=) rs776860902 0.00001
NM_000282.4(PCCA):c.1477C>T (p.Arg493Cys) rs753955254 0.00001
NM_000282.4(PCCA):c.2173G>A (p.Val725Met) rs747593363 0.00001
NM_000282.4(PCCA):c.681A>C (p.Lys227Asn) rs749118295 0.00001
NM_000329.3(RPE65):c.547A>G (p.Ile183Val) rs1010958875 0.00001
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356 0.00001
NM_000531.6(OTC):c.520G>A (p.Ala174Thr) rs72556281 0.00001
NM_000531.6(OTC):c.847G>C (p.Gly283Arg) rs2068530349 0.00001
NM_000531.6(OTC):c.896C>T (p.Thr299Ile) rs756772340 0.00001
NM_001142800.2(EYS):c.4440A>G (p.Arg1480=) rs886061675 0.00001
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825 0.00001
NM_001876.4(CPT1A):c.1054C>T (p.Arg352Trp) rs376844032 0.00001
NM_001876.4(CPT1A):c.1244C>T (p.Ala415Val) rs528019785 0.00001
NM_001876.4(CPT1A):c.317G>A (p.Ser106Asn) rs766819782 0.00001
NM_001918.5(DBT):c.1217G>T (p.Gly406Val) rs767154711 0.00001
NM_001918.5(DBT):c.5C>T (p.Ala2Val) rs398123672 0.00001
NM_001918.5(DBT):c.61C>T (p.Arg21Cys) rs398123673 0.00001
NM_001918.5(DBT):c.673A>C (p.Ile225Leu) rs1472099889 0.00001
NM_001918.5(DBT):c.836G>T (p.Cys279Phe) rs1662392597 0.00001
NM_003060.4(SLC22A5):c.118G>A (p.Val40Met) rs148657753 0.00001
NM_003060.4(SLC22A5):c.217G>C (p.Asp73His) rs778137386 0.00001
NM_003060.4(SLC22A5):c.349T>C (p.Trp117Arg) rs398123692 0.00001
NM_003060.4(SLC22A5):c.363G>T (p.Gln121His) rs758991830 0.00001
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys) rs762126547 0.00001
NM_003060.4(SLC22A5):c.637G>A (p.Ala213Thr) rs749602236 0.00001
NM_003060.4(SLC22A5):c.763G>A (p.Asp255Asn) rs774619135 0.00001
NM_004172.5(SLC1A3):c.212A>G (p.Tyr71Cys) rs573483474 0.00001
NM_004172.5(SLC1A3):c.28A>G (p.Lys10Glu) rs754763002 0.00001
NM_004453.4(ETFDH):c.1175T>C (p.Met392Thr) rs1774520171 0.00001
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=) rs754795292 0.00001
NM_006623.4(PHGDH):c.119A>G (p.Glu40Gly) rs778630047 0.00001
NM_006623.4(PHGDH):c.1209+4C>T rs199611972 0.00001
NM_006623.4(PHGDH):c.1534T>G (p.Ser512Ala) rs375098288 0.00001
NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp) rs772067625 0.00001
NM_006623.4(PHGDH):c.566A>C (p.Gln189Pro) rs750124525 0.00001
NM_014251.3(SLC25A13):c.185G>A (p.Ser62Asn) rs577901657 0.00001
NM_014251.3(SLC25A13):c.73G>A (p.Ala25Thr) rs759288496 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.334C>T (p.Arg112Cys) rs187869948 0.00001
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) rs886046368 0.00001
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr) rs759921519 0.00001
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr) rs1161394470 0.00001
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala) rs780926592 0.00001
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile) rs556069604 0.00001
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys) rs774752168 0.00001
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys) rs148131756 0.00001
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser) rs754653320 0.00001
NM_020166.5(MCCC1):c.619G>A (p.Val207Ile) rs149268368 0.00001
NM_022367.4(SEMA4A):c.1094C>T (p.Thr365Ile) rs768826705 0.00001
NM_022367.4(SEMA4A):c.1174A>C (p.Met392Leu) rs1475557484 0.00001
NM_022367.4(SEMA4A):c.1287C>G (p.His429Gln) rs368904425 0.00001
NM_022367.4(SEMA4A):c.1685C>T (p.Pro562Leu) rs780625142 0.00001
NM_022367.4(SEMA4A):c.2131C>T (p.Arg711Trp) rs762468169 0.00001
NM_022367.4(SEMA4A):c.394G>A (p.Val132Ile) rs374333337 0.00001
NM_022367.4(SEMA4A):c.427G>A (p.Gly143Ser) rs773687726 0.00001
NM_172250.3(MMAA):c.1055G>A (p.Ser352Asn) rs756437003 0.00001
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln) rs191643294 0.00001
NM_172250.3(MMAA):c.313A>G (p.Ile105Val) rs1284134117 0.00001
NM_177550.5(SLC13A5):c.1066G>A (p.Asp356Asn) rs151050636 0.00001
NM_177550.5(SLC13A5):c.1163A>G (p.Lys388Arg) rs1423476132 0.00001
NM_177550.5(SLC13A5):c.292G>A (p.Val98Met) rs529524270 0.00001
NM_177550.5(SLC13A5):c.317A>G (p.His106Arg) rs762062274 0.00001
NM_177550.5(SLC13A5):c.502G>A (p.Ala168Thr) rs1555542943 0.00001
NM_177550.5(SLC13A5):c.674C>T (p.Thr225Ile) rs182042247 0.00001
NM_177550.5(SLC13A5):c.970T>C (p.Phe324Leu) rs146116408 0.00001
NM_177550.5(SLC13A5):c.991T>A (p.Phe331Ile) rs142301014 0.00001
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp) rs398124571 0.00001
NM_183050.4(BCKDHB):c.365C>T (p.Thr122Ile) rs398124575 0.00001
NM_183050.4(BCKDHB):c.854G>A (p.Arg285Gln) rs761827220 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.1909C>T (p.Pro637Ser) rs1457623741 0.00001
NM_201253.3(CRB1):c.2195G>C (p.Ser732Thr) rs757381371 0.00001
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu) rs886045784 0.00001
NM_201253.3(CRB1):c.2636T>C (p.Val879Ala) rs772386967 0.00001
NM_201253.3(CRB1):c.2677-343G>A rs760861776 0.00001
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp) rs749366098 0.00001
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys) rs62635655 0.00001
NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr) rs752329622 0.00001
NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys) rs115649214 0.00001
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His) rs746774206 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.713C>A (p.Thr238Asn) rs1452822430 0.00001
NM_201253.3(CRB1):c.914G>C (p.Cys305Ser) rs911156007 0.00001
NM_201253.3(CRB1):c.976C>T (p.His326Tyr) rs773386179 0.00001
NM_206933.4(USH2A):c.10058C>T (p.Pro3353Leu) rs755020832 0.00001
NM_206933.4(USH2A):c.10064C>T (p.Pro3355Leu) rs1253788950 0.00001
NM_206933.4(USH2A):c.10182+5T>C rs1049628868 0.00001
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met) rs149485593 0.00001
NM_206933.4(USH2A):c.10423A>G (p.Arg3475Gly) rs141098637 0.00001
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser) rs777043718 0.00001
NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile) rs763125604 0.00001
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile) rs397517970 0.00001
NM_206933.4(USH2A):c.11089A>G (p.Thr3697Ala) rs765454203 0.00001
NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn) rs1373104511 0.00001
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg) rs397517971 0.00001
NM_206933.4(USH2A):c.11299A>T (p.Thr3767Ser) rs1289393326 0.00001
NM_206933.4(USH2A):c.11350A>C (p.Ile3784Leu) rs1660884865 0.00001
NM_206933.4(USH2A):c.11740G>A (p.Val3914Ile) rs1401744202 0.00001
NM_206933.4(USH2A):c.11887G>A (p.Ala3963Thr) rs541566194 0.00001
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala) rs727505322 0.00001
NM_206933.4(USH2A):c.12092A>G (p.Tyr4031Cys) rs772969352 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.12362G>A (p.Arg4121His) rs397517980 0.00001
NM_206933.4(USH2A):c.12415G>C (p.Gly4139Arg) rs138866017 0.00001
NM_206933.4(USH2A):c.12455A>G (p.Glu4152Gly) rs768614804 0.00001
NM_206933.4(USH2A):c.12458C>T (p.Ala4153Val) rs779875423 0.00001
NM_206933.4(USH2A):c.12559C>T (p.Arg4187Cys) rs760177550 0.00001
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr) rs955434291 0.00001
NM_206933.4(USH2A):c.12962A>G (p.Glu4321Gly) rs936692193 0.00001
NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe) rs750512832 0.00001
NM_206933.4(USH2A):c.12997C>G (p.Leu4333Val) rs770620234 0.00001
NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met) rs1453273341 0.00001
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406 0.00001
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu) rs772415448 0.00001
NM_206933.4(USH2A):c.13684A>G (p.Ile4562Val) rs1427845684 0.00001
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu) rs1202573136 0.00001
NM_206933.4(USH2A):c.13802C>T (p.Pro4601Leu) rs1176215017 0.00001
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His) rs1040917329 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.14328T>G (p.His4776Gln) rs1220949681 0.00001
NM_206933.4(USH2A):c.14405C>T (p.Ser4802Phe) rs775307880 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.14832G>T (p.Leu4944Phe) rs556415914 0.00001
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys) rs766759858 0.00001
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe) rs41308423 0.00001
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile) rs397517996 0.00001
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn) rs374144657 0.00001
NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe) rs542341955 0.00001
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro) rs376816523 0.00001
NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys) rs759899869 0.00001
NM_206933.4(USH2A):c.15580C>T (p.Arg5194Cys) rs751811618 0.00001
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala) rs147509797 0.00001
NM_206933.4(USH2A):c.1840+4A>G rs749288291 0.00001
NM_206933.4(USH2A):c.1900G>T (p.Ala634Ser) rs759589036 0.00001
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly) rs397518005 0.00001
NM_206933.4(USH2A):c.2031G>T (p.Gln677His) rs753305011 0.00001
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile) rs377254440 0.00001
NM_206933.4(USH2A):c.2167+4C>T rs200638562 0.00001
NM_206933.4(USH2A):c.2479A>C (p.Asn827His) rs876658114 0.00001
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg) rs1037325220 0.00001
NM_206933.4(USH2A):c.2642A>C (p.Gln881Pro) rs769767476 0.00001
NM_206933.4(USH2A):c.2761C>A (p.Leu921Met) rs772211390 0.00001
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys) rs749621457 0.00001
NM_206933.4(USH2A):c.2972G>A (p.Gly991Glu) rs779811357 0.00001
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr) rs1391032458 0.00001
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739 0.00001
NM_206933.4(USH2A):c.3310C>A (p.Pro1104Thr) rs751890894 0.00001
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser) rs372843685 0.00001
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu) rs727503734 0.00001
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn) rs202247801 0.00001
NM_206933.4(USH2A):c.3664G>A (p.Ala1222Thr) rs761752531 0.00001
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile) rs768461447 0.00001
NM_206933.4(USH2A):c.3899G>A (p.Ser1300Asn) rs772408328 0.00001
NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu) rs780574336 0.00001
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser) rs145459379 0.00001
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met) rs201190539 0.00001
NM_206933.4(USH2A):c.4280T>C (p.Leu1427Pro) rs373130157 0.00001
NM_206933.4(USH2A):c.4314G>T (p.Arg1438Ser) rs776039417 0.00001
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu) rs2034688425 0.00001
NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro) rs757315203 0.00001
NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile) rs961580455 0.00001
NM_206933.4(USH2A):c.4490C>T (p.Ser1497Phe) rs755482100 0.00001
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) rs373599651 0.00001
NM_206933.4(USH2A):c.4733G>A (p.Arg1578His) rs552928943 0.00001
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn) rs775241651 0.00001
NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val) rs1265349835 0.00001
NM_206933.4(USH2A):c.5041A>G (p.Asn1681Asp) rs746010533 0.00001
NM_206933.4(USH2A):c.5059A>C (p.Ile1687Leu) rs144213699 0.00001
NM_206933.4(USH2A):c.5111A>T (p.Asn1704Ile) rs764080143 0.00001
NM_206933.4(USH2A):c.5189A>G (p.Tyr1730Cys) rs375519871 0.00001
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu) rs527598451 0.00001
NM_206933.4(USH2A):c.5443A>G (p.Ser1815Gly) rs940913250 0.00001
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys) rs529355834 0.00001
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys) rs150143291 0.00001
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys) rs777886737 0.00001
NM_206933.4(USH2A):c.6050G>A (p.Gly2017Asp) rs397518024 0.00001
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn) rs759545289 0.00001
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala) rs754703964 0.00001
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn) rs727503724 0.00001
NM_206933.4(USH2A):c.651G>T (p.Gln217His) rs758696021 0.00001
NM_206933.4(USH2A):c.6589A>G (p.Thr2197Ala) rs887441664 0.00001
NM_206933.4(USH2A):c.6667G>A (p.Gly2223Ser) rs1047559421 0.00001
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp) rs755612537 0.00001
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys) rs774634733 0.00001
NM_206933.4(USH2A):c.6751T>A (p.Ser2251Thr) rs750302027 0.00001
NM_206933.4(USH2A):c.6806-3C>T rs775703386 0.00001
NM_206933.4(USH2A):c.6854A>G (p.Asn2285Ser) rs528089082 0.00001
NM_206933.4(USH2A):c.6889G>T (p.Ala2297Ser) rs150634036 0.00001
NM_206933.4(USH2A):c.6908C>T (p.Ser2303Phe) rs766809837 0.00001
NM_206933.4(USH2A):c.6968G>A (p.Arg2323Gln) rs772014718 0.00001
NM_206933.4(USH2A):c.6988G>A (p.Glu2330Lys) rs926377709 0.00001
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met) rs727503721 0.00001
NM_206933.4(USH2A):c.7051G>A (p.Ala2351Thr) rs886042178 0.00001
NM_206933.4(USH2A):c.7105T>G (p.Phe2369Val) rs1475753019 0.00001
NM_206933.4(USH2A):c.7156G>T (p.Val2386Phe) rs199825458 0.00001
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr) rs374569301 0.00001
NM_206933.4(USH2A):c.7412T>A (p.Leu2471His) rs1290644032 0.00001
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile) rs876658115 0.00001
NM_206933.4(USH2A):c.8009C>G (p.Thr2670Ser) rs758382005 0.00001
NM_206933.4(USH2A):c.8021C>A (p.Thr2674Asn) rs754677752 0.00001
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu) rs397518034 0.00001
NM_206933.4(USH2A):c.8168G>A (p.Arg2723Gln) rs267598376 0.00001
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) rs397518035 0.00001
NM_206933.4(USH2A):c.82A>G (p.Ile28Val) rs753515909 0.00001
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg) rs397518037 0.00001
NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu) rs373811292 0.00001
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390 0.00001
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile) rs761359720 0.00001
NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser) rs768579751 0.00001
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys) rs770418427 0.00001
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp) rs766298464 0.00001
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala) rs776395355 0.00001
NM_206933.4(USH2A):c.9820T>A (p.Ser3274Thr) rs1236116000 0.00001
NM_206933.4(USH2A):c.9851G>A (p.Gly3284Glu) rs1043013730 0.00001
NM_206933.4(USH2A):c.9862G>C (p.Asp3288His) rs1334903455 0.00001
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe) rs1662221668 0.00001
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly) rs766658893 0.00001
NM_206933.4(USH2A):c.9974G>A (p.Gly3325Glu) rs1378786390 0.00001
NM_206933.4(USH2A):c.9982T>A (p.Tyr3328Asn) rs1558099268 0.00001
NM_000016.6(ACADM):c.1103T>C (p.Leu368Ser) rs2100453501
NM_000016.6(ACADM):c.139G>A (p.Glu47Lys) rs2100362559
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) rs202078273
NM_000017.4(ACADS):c.461T>G (p.Leu154Arg) rs1057523592
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro) rs777002501
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=) rs2071338251
NM_000018.4(ACADVL):c.1881G>A (p.Gln627=) rs931018661
NM_000018.4(ACADVL):c.259G>A (p.Val87Met) rs2142965839
NM_000018.4(ACADVL):c.956C>T (p.Ser319Leu) rs149467828
NM_000019.4(ACAT1):c.10C>G (p.Leu4Val) rs774524997
NM_000048.4(ASL):c.1095C>T (p.Ser365=) rs749559501
NM_000048.4(ASL):c.231C>T (p.Gly77=) rs2115694497
NM_000048.4(ASL):c.530C>G (p.Ala177Gly) rs2115725413
NM_000071.3(CBS):c.1195G>A (p.Glu399Lys) rs1485255027
NM_000071.3(CBS):c.753G>T (p.Leu251=) rs2146375662
NM_000108.5(DLD):c.542T>C (p.Ile181Thr) rs1291809324
NM_000137.4(FAH):c.1061C>T (p.Pro354Leu) rs143326948
NM_000159.4(GCDH):c.1134C>T (p.Ala378=) rs2145954932
NM_000170.3(GLDC):c.1738C>G (p.His580Asp) rs1164241828
NM_000182.5(HADHA):c.252A>C (p.Gln84His) rs2147784410
NM_000191.3(HMGCL):c.182A>G (p.Asp61Gly)
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly) rs754437215
NM_000191.3(HMGCL):c.20C>T (p.Ala7Val) rs754437215
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr) rs886046314
NM_000191.3(HMGCL):c.497+3G>A rs763178392
NM_000191.3(HMGCL):c.497G>T (p.Gly166Val) rs2148422419
NM_000191.3(HMGCL):c.595G>C (p.Glu199Gln)
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu) rs1553131940
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser) rs1445870588
NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)
NM_000191.3(HMGCL):c.795C>G (p.Gly265=) rs1488079271
NM_000255.4(MMUT):c.733A>G (p.Ile245Val) rs754464973
NM_000274.4(OAT):c.799A>G (p.Thr267Ala) rs2134456603
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn) rs63329263
NM_000282.4(PCCA):c.1162G>T (p.Asp388Tyr) rs2152684002
NM_000282.4(PCCA):c.1461G>C (p.Glu487Asp) rs767997785
NM_000282.4(PCCA):c.1828A>G (p.Thr610Ala) rs749767976
NM_000282.4(PCCA):c.764A>G (p.Asp255Gly) rs746776657
NM_000282.4(PCCA):c.895G>A (p.Val299Met) rs1188239325
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000317.3(PTS):c.340A>G (p.Ile114Val) rs1555198495
NM_000329.3(RPE65):c.1205G>C (p.Trp402Ser) rs774130993
NM_000329.3(RPE65):c.462G>C (p.Lys154Asn) rs2100827532
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000531.6(OTC):c.116G>A (p.Gly39Asp) rs1602014500
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) rs72558410
NM_000531.6(OTC):c.919A>G (p.Lys307Glu) rs796052013
NM_000709.4(BCKDHA):c.1074C>A (p.Asp358Glu) rs2122146497
NM_000709.4(BCKDHA):c.586G>A (p.Gly196Ser) rs1191782907
NM_000709.4(BCKDHA):c.691G>T (p.Val231Phe) rs2122142932
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp) rs373713279
NM_001142800.2(EYS):c.4261G>C (p.Ala1421Pro) rs545171658
NM_001142800.2(EYS):c.4290C>G (p.Ser1430Arg) rs2149832263
NM_001142800.2(EYS):c.5884A>G (p.Thr1962Ala) rs2150463938
NM_001142800.2(EYS):c.602A>G (p.His201Arg) rs1011260787
NM_001142800.2(EYS):c.6116A>T (p.Glu2039Val) rs2150375987
NM_001142800.2(EYS):c.7366G>A (p.Ala2456Thr) rs2149678928
NM_001142800.2(EYS):c.7480G>A (p.Gly2494Arg) rs1483377268
NM_001243279.3(ACSF3):c.1145T>C (p.Leu382Pro) rs781134234
NM_001352514.2(HLCS):c.1414G>C (p.Gly472Arg) rs748444836
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=) rs767700692
NM_001370658.1(BTD):c.1135A>T (p.Met379Leu) rs1295528438
NM_001370658.1(BTD):c.195C>T (p.Leu65=) rs2125454784
NM_001370658.1(BTD):c.498C>G (p.Cys166Trp) rs2125500615
NM_001875.5(CPS1):c.2200T>A (p.Leu734Met) rs1297131870
NM_001875.5(CPS1):c.2474C>T (p.Pro825Leu) rs1376614988
NM_001876.4(CPT1A):c.1018G>A (p.Gly340Arg) rs2153998408
NM_001876.4(CPT1A):c.1960G>A (p.Asp654Asn) rs1417413074
NM_001918.5(DBT):c.1219A>G (p.Thr407Ala)
NM_001918.5(DBT):c.1348G>A (p.Ala450Thr) rs398123661
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del) rs771945254
NM_001918.5(DBT):c.449TTG[1] (p.Val151del) rs773087765
NM_001918.5(DBT):c.451G>A (p.Val151Ile) rs1282153768
NM_001918.5(DBT):c.512C>T (p.Thr171Ile)
NM_001918.5(DBT):c.577G>A (p.Gly193Ser) rs398123671
NM_001918.5(DBT):c.82_84dup (p.Asn28dup) rs746916491
NM_001918.5(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_002225.5(IVD):c.607G>C (p.Asp203His) rs2141331313
NM_002225.5(IVD):c.813G>A (p.Lys271=) rs767825575
NM_003060.4(SLC22A5):c.-25C>T rs886059907
NM_003060.4(SLC22A5):c.1052+5G>A rs927950152
NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup) rs896634334
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu) rs886042092
NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val) rs573330330
NM_003060.4(SLC22A5):c.1234A>C (p.Ser412Arg) rs1057518364
NM_003060.4(SLC22A5):c.202C>T (p.Pro68Ser) rs1045644394
NM_003060.4(SLC22A5):c.232C>T (p.Pro78Ser) rs1485828747
NM_003060.4(SLC22A5):c.344A>G (p.Asp115Gly) rs386134192
NM_003060.4(SLC22A5):c.35G>A (p.Gly12Asp) rs886043206
NM_003060.4(SLC22A5):c.693T>C (p.Ser231=) rs2126783662
NM_003982.4(SLC7A7):c.187C>T (p.Leu63Phe) rs2039348270
NM_003982.4(SLC7A7):c.360_361delinsAA (p.Trp121Arg) rs1064797037
NM_003982.4(SLC7A7):c.755T>A (p.Ile252Asn) rs760849909
NM_004172.5(SLC1A3):c.625C>G (p.Leu209Val) rs146815724
NM_004453.4(ETFDH):c.1360A>T (p.Ile454Leu) rs766776740
NM_004937.3(CTNS):c.782C>G (p.Thr261Arg) rs370257007
NM_006623.4(PHGDH):c.109A>G (p.Ser37Gly)
NM_006623.4(PHGDH):c.1117G>A (p.Ala373Thr) rs201553627
NM_006623.4(PHGDH):c.214G>A (p.Val72Met) rs958052810
NM_006623.4(PHGDH):c.391G>A (p.Gly131Ser)
NM_006623.4(PHGDH):c.40A>G (p.Ser14Gly) rs1448633854
NM_006623.4(PHGDH):c.476A>G (p.Glu159Gly) rs756996899
NM_006623.4(PHGDH):c.743C>A (p.Ala248Asp) rs201782441
NM_006623.4(PHGDH):c.87G>T (p.Gln29His)
NM_014049.5(ACAD9):c.1366A>G (p.Lys456Glu) rs2107662601
NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met) rs554809009
NM_015506.3(MMACHC):c.*5C>G rs557994288
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr) rs2149323547
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg) rs1006520706
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.553A>C (p.Thr185Pro)
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val) rs375442063
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys) rs483352740
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly) rs199641732
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala) rs533256855
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser) rs533256855
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr) rs1553163019
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_017739.4(POMGNT1):c.*457C>T rs1657513729
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln) rs752591703
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser) rs2148167563
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys) rs972657462
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg) rs2148202208
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu) rs398124352
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val) rs1367329678
NM_020166.5(MCCC1):c.453C>T (p.Gly151=) rs1716764203
NM_020166.5(MCCC1):c.503C>A (p.Ser168Tyr) rs2108526676
NM_022132.5(MCCC2):c.1196T>A (p.Leu399Gln) rs2112463776
NM_022132.5(MCCC2):c.1554C>A (p.Asn518Lys) rs2112472855
NM_022132.5(MCCC2):c.940G>A (p.Ala314Thr) rs2112438294
NM_022367.4(SEMA4A):c.1196A>T (p.Asp399Val) rs727504147
NM_022367.4(SEMA4A):c.1337C>T (p.Ala446Val) rs886045366
NM_022367.4(SEMA4A):c.1783C>T (p.Pro595Ser) rs1286943189
NM_022367.4(SEMA4A):c.2167C>A (p.Arg723Ser) rs199933282
NM_022367.4(SEMA4A):c.2175_2176dup (p.Glu726fs) rs780625314
NM_022367.4(SEMA4A):c.332G>A (p.Ser111Asn)
NM_022367.4(SEMA4A):c.94G>T (p.Gly32Trp)
NM_031885.5(BBS2):c.1169G>T (p.Ser390Ile) rs1169691619
NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys) rs753656568
NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln) rs1384614641
NM_054012.4(ASS1):c.115G>C (p.Gly39Arg) rs2131869276
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.439A>C (p.Met147Leu) rs2131882521
NM_054012.4(ASS1):c.748C>T (p.Leu250Phe) rs772369785
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=) rs2130807297
NM_153006.3(NAGS):c.696T>A (p.His232Gln) rs1268332465
NM_177550.5(SLC13A5):c.-5G>A rs201070767
NM_177550.5(SLC13A5):c.1291G>T (p.Val431Leu) rs201036096
NM_177550.5(SLC13A5):c.1298T>C (p.Met433Thr) rs1064796654
NM_177550.5(SLC13A5):c.1333C>A (p.Pro445Thr) rs373587508
NM_177550.5(SLC13A5):c.289G>A (p.Ala97Thr) rs1597676768
NM_177550.5(SLC13A5):c.367C>T (p.Arg123Trp) rs754937425
NM_177550.5(SLC13A5):c.485_487dup (p.Thr162dup) rs748215544
NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val) rs777563695
NM_183050.4(BCKDHB):c.*13G>A rs398124559
NM_183050.4(BCKDHB):c.-15C>T rs747088249
NM_183050.4(BCKDHB):c.193T>G (p.Tyr65Asp) rs1209549339
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu) rs776631396
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro) rs371518124
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys) rs1064797127
NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro) rs1660514556
NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro)
NM_201253.3(CRB1):c.1204T>G (p.Ser402Ala) rs781359016
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) rs1571522690
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala) rs1553260314
NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys)
NM_201253.3(CRB1):c.1699T>C (p.Trp567Arg) rs886043472
NM_201253.3(CRB1):c.1708G>A (p.Val570Met) rs754482666
NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu) rs1034422363
NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr) rs752212470
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal) rs2125471114
NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu) rs1238001290
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) rs1204363918
NM_201253.3(CRB1):c.2340C>T (p.Pro780=) rs2125484301
NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys) rs1009552469
NM_201253.3(CRB1):c.2489T>A (p.Ile830Asn) rs2125484835
NM_201253.3(CRB1):c.2668A>G (p.Ser890Gly)
NM_201253.3(CRB1):c.2806G>A (p.Gly936Arg)
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu) rs2125499116
NM_201253.3(CRB1):c.3007A>T (p.Ile1003Phe) rs910299744
NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg) rs1665062132
NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe) rs1665065652
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn) rs1452661857
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys) rs794727317
NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn)
NM_201253.3(CRB1):c.3559A>T (p.Ile1187Phe) rs371586216
NM_201253.3(CRB1):c.355T>G (p.Cys119Gly) rs1658671611
NM_201253.3(CRB1):c.3564T>G (p.His1188Gln) rs376271122
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn) rs886045783
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg)
NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr) rs1665279435
NM_201253.3(CRB1):c.3857G>A (p.Arg1286Gln)
NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn) rs1667262233
NM_201253.3(CRB1):c.4151A>G (p.Gln1384Arg)
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp) rs765740058
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr) rs767920858
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr) rs1658699227
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser) rs1659650891
NM_201253.3(CRB1):c.862T>C (p.Cys288Arg) rs1571877872
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu) rs746870063
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys) rs757682417
NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp) rs1558097546
NM_206933.4(USH2A):c.10265G>A (p.Ser3422Asn) rs773660267
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys) rs1553261469
NM_206933.4(USH2A):c.1041T>C (p.Asp347=) rs2102655884
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser) rs771610821
NM_206933.4(USH2A):c.10526A>G (p.Lys3509Arg) rs2102763446
NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr)
NM_206933.4(USH2A):c.10628G>A (p.Arg3543His)
NM_206933.4(USH2A):c.10631T>C (p.Phe3544Ser) rs2102762754
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) rs397517968
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp) rs144560419
NM_206933.4(USH2A):c.10740G>C (p.Lys3580Asn) rs369507534
NM_206933.4(USH2A):c.10855G>A (p.Val3619Ile)
NM_206933.4(USH2A):c.10878G>T (p.Arg3626Ser)
NM_206933.4(USH2A):c.10993G>A (p.Gly3665Arg)
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn) rs2102742330
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu) rs527236139
NM_206933.4(USH2A):c.11168T>G (p.Leu3723Trp) rs928040621
NM_206933.4(USH2A):c.11203A>T (p.Thr3735Ser)
NM_206933.4(USH2A):c.11215C>G (p.Leu3739Val) rs2102742157
NM_206933.4(USH2A):c.1142A>G (p.Gln381Arg) rs1553250774
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val) rs1553257673
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met) rs397517975
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del) rs727504714
NM_206933.4(USH2A):c.11711G>A (p.Arg3904Lys)
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln) rs1436435041
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile) rs1659890930
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn) rs866937010
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val) rs141528682
NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)
NM_206933.4(USH2A):c.12194C>T (p.Ser4065Phe)
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del) rs1657997491
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe) rs1064797131
NM_206933.4(USH2A):c.1246G>A (p.Ala416Thr) rs187897763
NM_206933.4(USH2A):c.1246G>T (p.Ala416Ser) rs187897763
NM_206933.4(USH2A):c.12484A>G (p.Thr4162Ala) rs1363933493
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu) rs147304271
NM_206933.4(USH2A):c.12586G>A (p.Glu4196Lys) rs770065010
NM_206933.4(USH2A):c.1259G>A (p.Gly420Asp)
NM_206933.4(USH2A):c.12611_12612inv (p.Thr4204Met)
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser) rs727505117
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro) rs1553252463
NM_206933.4(USH2A):c.12940G>A (p.Val4314Met)
NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala) rs1657955894
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His) rs2102665721
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu) rs2039690182
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg) rs372802465
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser) rs1657932443
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe) rs746442849
NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly) rs775560370
NM_206933.4(USH2A):c.13633C>T (p.Pro4545Ser) rs2102664812
NM_206933.4(USH2A):c.13811+3A>G rs760716728
NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)
NM_206933.4(USH2A):c.14146A>G (p.Asn4716Asp) rs2102645078
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
NM_206933.4(USH2A):c.14632T>G (p.Cys4878Gly) rs779400517
NM_206933.4(USH2A):c.14635A>G (p.Thr4879Ala) rs745580452
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)
NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile) rs1029854359
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del) rs1553250595
NM_206933.4(USH2A):c.15172T>C (p.Phe5058Leu)
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr) rs397517999
NM_206933.4(USH2A):c.15298-18_15301dup rs1553248238
NM_206933.4(USH2A):c.15307G>A (p.Asp5103Asn)
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp) rs746098518
NM_206933.4(USH2A):c.15373C>T (p.Arg5125Cys)
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn) rs774383785
NM_206933.4(USH2A):c.15577del (p.Glu5193fs) rs1553313073
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val) rs772624410
NM_206933.4(USH2A):c.1580G>T (p.Cys527Phe) rs755735339
NM_206933.4(USH2A):c.1644+5G>C rs1558036810
NM_206933.4(USH2A):c.1645T>A (p.Cys549Ser) rs1064797139
NM_206933.4(USH2A):c.1648G>C (p.Asp550His) rs727504805
NM_206933.4(USH2A):c.1832A>C (p.Asn611Thr) rs2102610653
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.2081G>C (p.Cys694Ser) rs137954284
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe) rs1352007983
NM_206933.4(USH2A):c.2185T>C (p.Cys729Arg) rs2102546492
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del) rs1553320519
NM_206933.4(USH2A):c.253A>G (p.Ile85Val) rs770983063
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn) rs776323626
NM_206933.4(USH2A):c.2942G>A (p.Arg981His)
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser) rs2035366945
NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp) rs150729680
NM_206933.4(USH2A):c.3026C>G (p.Ala1009Gly)
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser) rs1396798963
NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del) rs1396847135
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg) rs111033377
NM_206933.4(USH2A):c.3316+6T>C rs373631038
NM_206933.4(USH2A):c.349C>T (p.His117Tyr)
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del) rs1294733964
NM_206933.4(USH2A):c.3680G>C (p.Gly1227Ala)
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser) rs755849364
NM_206933.4(USH2A):c.3809A>G (p.Asn1270Ser)
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val)
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln) rs372993160
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu) rs372993160
NM_206933.4(USH2A):c.4024G>C (p.Val1342Leu) rs778505422
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe)
NM_206933.4(USH2A):c.4129T>A (p.Ser1377Thr) rs2102460604
NM_206933.4(USH2A):c.4136A>G (p.Asn1379Ser) rs752569816
NM_206933.4(USH2A):c.4251+3A>G rs1181655123
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His) rs2102460239
NM_206933.4(USH2A):c.4282T>C (p.Ser1428Pro) rs369185265
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe) rs770790346
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe) rs866592573
NM_206933.4(USH2A):c.5047A>G (p.Asn1683Asp) rs2102561202
NM_206933.4(USH2A):c.5167+4A>G rs397518019
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp) rs1469348824
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser)
NM_206933.4(USH2A):c.5282G>A (p.Gly1761Glu) rs2102559662
NM_206933.4(USH2A):c.5471C>T (p.Ser1824Leu) rs748792761
NM_206933.4(USH2A):c.5479G>A (p.Gly1827Arg)
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu) rs199645514
NM_206933.4(USH2A):c.5653A>G (p.Arg1885Gly)
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.5726A>T (p.Tyr1909Phe) rs761586978
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=) rs747419030
NM_206933.4(USH2A):c.5813G>T (p.Gly1938Val) rs2031607385
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala) rs2031607129
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn) rs747652397
NM_206933.4(USH2A):c.598G>C (p.Val200Leu) rs781022362
NM_206933.4(USH2A):c.6047C>A (p.Thr2016Lys)
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
NM_206933.4(USH2A):c.6134A>T (p.His2045Leu) rs111033514
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr) rs768233523
NM_206933.4(USH2A):c.6167_6169del (p.Pro2056del) rs776262139
NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val)
NM_206933.4(USH2A):c.6511G>A (p.Gly2171Arg) rs1668203744
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys) rs727503722
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile) rs1667318951
NM_206933.4(USH2A):c.7028G>A (p.Arg2343Gln)
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr) rs762558966
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu) rs1017425051
NM_206933.4(USH2A):c.7225A>C (p.Thr2409Pro) rs2102499658
NM_206933.4(USH2A):c.7238A>C (p.Asn2413Thr) rs780840434
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del) rs1665478442
NM_206933.4(USH2A):c.7348A>C (p.Ser2450Arg)
NM_206933.4(USH2A):c.736A>G (p.Ile246Val) rs746975879
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe) rs1665475399
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp) rs397518031
NM_206933.4(USH2A):c.7526G>A (p.Arg2509Gln)
NM_206933.4(USH2A):c.7633A>G (p.Lys2545Glu) rs774559456
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe) rs397518033
NM_206933.4(USH2A):c.7765C>G (p.His2589Asp) rs747492773
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser) rs1414367127
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val)
NM_206933.4(USH2A):c.8318C>T (p.Ser2773Phe) rs1413784848
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu) rs2102658782
NM_206933.4(USH2A):c.8393G>C (p.Gly2798Ala) rs886044303
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr) rs397518038
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu)
NM_206933.4(USH2A):c.8845+6_8845+9del rs541344995
NM_206933.4(USH2A):c.8992T>C (p.Ser2998Pro) rs886043586
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr) rs1553268568
NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)
NM_206933.4(USH2A):c.9127_9129del (p.Pro3043del) rs760448755
NM_206933.4(USH2A):c.9275T>G (p.Ile3092Arg) rs373286445
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del) rs773379163
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala) rs756163056
NM_206933.4(USH2A):c.950G>A (p.Arg317Gln) rs760741238
NM_206933.4(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln) rs1553265812
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)
NM_206933.4(USH2A):c.9803G>A (p.Cys3268Tyr) rs1662225145
NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile) rs137876918
NM_206933.4(USH2A):c.9962T>C (p.Met3321Thr) rs2102770144

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