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
|
|