NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_003060.4(SLC22A5):c.-149G>A
|
rs57262206
|
0.00144
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)
|
rs61732144
|
0.00055
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_003982.4(SLC7A7):c.895-2A>T
|
rs146582474
|
0.00036
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)
|
rs61753180
|
0.00029
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)
|
rs74103423
|
0.00022
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
0.00018
|
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)
|
rs398124598
|
0.00015
|
NM_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)
|
rs137853137
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)
|
rs104894317
|
0.00011
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000317.3(PTS):c.317C>T (p.Thr106Met)
|
rs200712908
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)
|
rs267607052
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)
|
rs398123508
|
0.00009
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)
|
rs121908646
|
0.00007
|
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)
|
rs763494292
|
0.00006
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_000372.5(TYR):c.229C>T (p.Arg77Trp)
|
rs61753184
|
0.00006
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
NM_000372.5(TYR):c.896G>A (p.Arg299His)
|
rs61754375
|
0.00006
|
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)
|
rs370596113
|
0.00006
|
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
|
rs371518124
|
0.00006
|
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)
|
rs121965044
|
0.00005
|
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)
|
rs72554307
|
0.00005
|
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)
|
rs377216516
|
0.00005
|
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)
|
rs11568520
|
0.00005
|
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)
|
rs121908886
|
0.00005
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)
|
rs5030846
|
0.00004
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)
|
rs62645917
|
0.00004
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
NM_001918.5(DBT):c.75_76del (p.Cys26fs)
|
rs768832921
|
0.00004
|
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)
|
rs72552732
|
0.00004
|
NM_003982.4(SLC7A7):c.377del (p.Ile126fs)
|
rs774080549
|
0.00004
|
NM_003982.4(SLC7A7):c.625+1G>A
|
rs386833822
|
0.00004
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)
|
rs587777577
|
0.00004
|
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)
|
rs773770609
|
0.00004
|
NM_181697.3(PRDX1):c.515-1G>T
|
rs751828470
|
0.00004
|
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)
|
rs398124579
|
0.00004
|
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)
|
rs62636273
|
0.00004
|
NM_206933.4(USH2A):c.9570+1G>A
|
rs760225886
|
0.00004
|
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)
|
rs781444670
|
0.00003
|
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
|
rs199475575
|
0.00003
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
0.00003
|
NM_000372.5(TYR):c.346C>T (p.Arg116Ter)
|
rs61753256
|
0.00003
|
NM_000372.5(TYR):c.533G>A (p.Trp178Ter)
|
rs61754360
|
0.00003
|
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)
|
rs376456598
|
0.00003
|
NM_003060.4(SLC22A5):c.1053-2A>C
|
rs777004046
|
0.00003
|
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)
|
rs121908889
|
0.00003
|
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)
|
rs386833807
|
0.00003
|
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)
|
rs747527726
|
0.00003
|
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)
|
rs201266016
|
0.00003
|
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)
|
rs62636275
|
0.00003
|
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)
|
rs111033273
|
0.00003
|
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)
|
rs398124619
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_000191.3(HMGCL):c.27del (p.Arg10fs)
|
rs1409716731
|
0.00002
|
NM_000317.3(PTS):c.84-3C>G
|
rs1230781262
|
0.00002
|
NM_000372.5(TYR):c.1037-1G>A
|
rs61754382
|
0.00002
|
NM_000372.5(TYR):c.1037-2A>G
|
rs748901196
|
0.00002
|
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)
|
rs28940877
|
0.00002
|
NM_000709.4(BCKDHA):c.288+1G>A
|
rs398123496
|
0.00002
|
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)
|
rs375785084
|
0.00002
|
NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln)
|
rs121908891
|
0.00002
|
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln)
|
rs386134210
|
0.00002
|
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)
|
rs386134212
|
0.00002
|
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)
|
rs386833818
|
0.00002
|
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp)
|
rs556977618
|
0.00002
|
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)
|
rs757325789
|
0.00002
|
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)
|
rs398124295
|
0.00002
|
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)
|
rs587776889
|
0.00002
|
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)
|
rs387907236
|
0.00002
|
NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter)
|
rs778627080
|
0.00002
|
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)
|
rs763111500
|
0.00002
|
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)
|
rs757740068
|
0.00002
|
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)
|
rs760544654
|
0.00002
|
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)
|
rs397517979
|
0.00002
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
0.00002
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
0.00002
|
NM_206933.4(USH2A):c.9371+1G>C
|
rs41308425
|
0.00002
|
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)
|
rs545215807
|
0.00001
|
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)
|
rs779040832
|
0.00001
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)
|
rs1212444447
|
0.00001
|
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)
|
rs760106433
|
0.00001
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
0.00001
|
NM_000317.3(PTS):c.186+1G>T
|
rs1256819927
|
0.00001
|
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)
|
rs765406631
|
0.00001
|
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)
|
rs104894280
|
0.00001
|
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)
|
rs145882709
|
0.00001
|
NM_000372.5(TYR):c.1036+1G>A
|
rs763715899
|
0.00001
|
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)
|
rs1013801316
|
0.00001
|
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)
|
rs61754392
|
0.00001
|
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)
|
rs28940879
|
0.00001
|
NM_000372.5(TYR):c.61C>T (p.Pro21Ser)
|
rs61753178
|
0.00001
|
NM_000372.5(TYR):c.658C>T (p.Gln220Ter)
|
rs797046083
|
0.00001
|
NM_000372.5(TYR):c.74dup (p.Ser26fs)
|
rs1057518763
|
0.00001
|
NM_000372.5(TYR):c.880G>A (p.Glu294Lys)
|
rs757754120
|
0.00001
|
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)
|
rs182923857
|
0.00001
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)
|
rs374625613
|
0.00001
|
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)
|
rs398123503
|
0.00001
|
NM_000709.4(BCKDHA):c.647-1G>C
|
rs753216964
|
0.00001
|
NM_000709.4(BCKDHA):c.854-2A>G
|
rs760494152
|
0.00001
|
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)
|
rs137852871
|
0.00001
|
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)
|
rs753698250
|
0.00001
|
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)
|
rs398123515
|
0.00001
|
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)
|
rs1243213118
|
0.00001
|
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)
|
rs398123660
|
0.00001
|
NM_001918.5(DBT):c.434-15_434-4del
|
rs727503895
|
0.00001
|
NM_001918.5(DBT):c.871C>T (p.Arg291Ter)
|
rs398123675
|
0.00001
|
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)
|
rs398123676
|
0.00001
|
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter)
|
rs121908887
|
0.00001
|
NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter)
|
rs72552722
|
0.00001
|
NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu)
|
rs377767445
|
0.00001
|
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)
|
rs72552727
|
0.00001
|
NM_003060.4(SLC22A5):c.652+1G>A
|
rs386134200
|
0.00001
|
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)
|
rs386134204
|
0.00001
|
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)
|
rs72552725
|
0.00001
|
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter)
|
rs121908679
|
0.00001
|
NM_015506.3(MMACHC):c.1A>G (p.Met1Val)
|
rs758477536
|
0.00001
|
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)
|
rs796051995
|
0.00001
|
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)
|
rs759188647
|
0.00001
|
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)
|
rs1347498294
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)
|
rs746135357
|
0.00001
|
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile)
|
rs779893448
|
0.00001
|
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)
|
rs796051996
|
0.00001
|
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)
|
rs1463495909
|
0.00001
|
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)
|
rs546099787
|
0.00001
|
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter)
|
rs199632531
|
0.00001
|
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter)
|
rs780664696
|
0.00001
|
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter)
|
rs150203483
|
0.00001
|
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)
|
rs751599203
|
0.00001
|
NM_183050.4(BCKDHB):c.633+1G>A
|
rs398124589
|
0.00001
|
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)
|
rs398124593
|
0.00001
|
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)
|
rs398124594
|
0.00001
|
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs)
|
rs1057516795
|
0.00001
|
NM_201253.3(CRB1):c.1149dup (p.Ile384fs)
|
rs1660517678
|
0.00001
|
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)
|
rs114342808
|
0.00001
|
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)
|
rs765676754
|
0.00001
|
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)
|
rs1451348539
|
0.00001
|
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)
|
rs62635656
|
0.00001
|
NM_201253.3(CRB1):c.4039del (p.Thr1347fs)
|
rs745422941
|
0.00001
|
NM_201253.3(CRB1):c.653-1G>T
|
rs760287363
|
0.00001
|
NM_206933.4(USH2A):c.11047+1G>A
|
rs201730567
|
0.00001
|
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)
|
rs1057519193
|
0.00001
|
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)
|
rs1358947010
|
0.00001
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
0.00001
|
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)
|
rs1003869920
|
0.00001
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
0.00001
|
NM_206933.4(USH2A):c.1841-2A>G
|
rs397518003
|
0.00001
|
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter)
|
rs781223647
|
0.00001
|
NM_206933.4(USH2A):c.2168-1G>C
|
rs748961218
|
0.00001
|
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)
|
rs767078782
|
0.00001
|
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)
|
rs1394737087
|
0.00001
|
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)
|
rs397518011
|
0.00001
|
NM_206933.4(USH2A):c.3317-2A>G
|
rs2034951427
|
0.00001
|
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)
|
rs764797292
|
0.00001
|
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)
|
rs769198746
|
0.00001
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)
|
rs111033386
|
0.00001
|
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter)
|
rs760302201
|
0.00001
|
NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter)
|
rs397518046
|
0.00001
|
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)
|
rs772100045
|
0.00001
|
NM_000017.4(ACADS):c.682_683del (p.Glu228fs)
|
rs786204691
|
|
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter)
|
rs761493155
|
|
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)
|
rs752137615
|
|
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)
|
rs890995574
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
NM_000191.3(HMGCL):c.876+1G>C
|
rs779802353
|
|
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
|
rs786205431
|
|
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter)
|
rs1554161054
|
|
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr)
|
rs1192400891
|
|
NM_000277.3(PAH):c.529G>A (p.Val177Met)
|
rs199475602
|
|
NM_000277.3(PAH):c.931_932del (p.Leu311fs)
|
rs281865430
|
|
NM_000317.3(PTS):c.118_121del (p.Phe40fs)
|
rs747260038
|
|
NM_000317.3(PTS):c.166G>A (p.Val56Met)
|
rs104894277
|
|
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)
|
rs104894276
|
|
NM_000317.3(PTS):c.393del (p.Val132fs)
|
rs780332520
|
|
NM_000372.5(TYR):c.1185-2A>G
|
rs1289685376
|
|
NM_000372.5(TYR):c.1267del (p.Glu423fs)
|
rs1565423674
|
|
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)
|
rs104894318
|
|
NM_000372.5(TYR):c.1456del (p.Ala486fs)
|
rs1590909462
|
|
NM_000372.5(TYR):c.286dup (p.Met96fs)
|
rs61753190
|
|
NM_000372.5(TYR):c.338_339del (p.Thr113fs)
|
rs61753254
|
|
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs)
|
rs1565386582
|
|
NM_000372.5(TYR):c.391_393del (p.Lys131del)
|
rs1413017181
|
|
NM_000372.5(TYR):c.572del (p.Gly191fs)
|
rs61754361
|
|
NM_000372.5(TYR):c.655G>A (p.Glu219Lys)
|
rs747995722
|
|
NM_000372.5(TYR):c.714G>A (p.Trp238Ter)
|
rs1565386964
|
|
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer)
|
rs61754368
|
|
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter)
|
rs765329261
|
|
NM_000372.5(TYR):c.895C>A (p.Arg299Ser)
|
rs61754374
|
|
NM_000372.5(TYR):c.929dup (p.Arg311fs)
|
rs281865527
|
|
NM_000372.5(TYR):c.976C>T (p.Gln326Ter)
|
rs540911439
|
|
NM_000531.6(OTC):c.119G>A (p.Arg40His)
|
rs72554308
|
|
NM_000531.6(OTC):c.205C>T (p.Gln69Ter)
|
rs72554326
|
|
NM_000531.6(OTC):c.275G>A (p.Arg92Gln)
|
rs66550389
|
|
NM_000531.6(OTC):c.298+2T>G
|
rs1555972538
|
|
NM_000531.6(OTC):c.386G>A (p.Arg129His)
|
rs66656800
|
|
NM_000531.6(OTC):c.422G>A (p.Arg141Gln)
|
rs68026851
|
|
NM_000531.6(OTC):c.482A>G (p.Asn161Ser)
|
rs72556271
|
|
NM_000531.6(OTC):c.533C>T (p.Thr178Met)
|
rs72556284
|
|
NM_000531.6(OTC):c.583G>A (p.Gly195Arg)
|
rs67294955
|
|
NM_000531.6(OTC):c.596A>G (p.Asn199Ser)
|
rs72558406
|
|
NM_000531.6(OTC):c.622G>A (p.Ala208Thr)
|
rs72558416
|
|
NM_000531.6(OTC):c.626C>T (p.Ala209Val)
|
rs72558417
|
|
NM_000531.6(OTC):c.663+1G>T
|
rs68170503
|
|
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)
|
rs67120076
|
|
NM_000531.6(OTC):c.77G>A (p.Arg26Gln)
|
rs68031618
|
|
NM_000531.6(OTC):c.829C>T (p.Arg277Trp)
|
rs72558454
|
|
NM_000531.6(OTC):c.830G>A (p.Arg277Gln)
|
rs66724222
|
|
NM_000531.6(OTC):c.944T>A (p.Val315Asp)
|
rs67414444
|
|
NM_000531.6(OTC):c.958C>T (p.Arg320Ter)
|
rs72558473
|
|
NM_000554.6(CRX):c.570dup (p.Tyr191fs)
|
rs1968168564
|
|
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)
|
rs1330793674
|
|
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)
|
rs765543886
|
|
NM_000709.4(BCKDHA):c.117del (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter)
|
rs863225262
|
|
NM_000709.4(BCKDHA):c.143del (p.Leu48fs)
|
rs1555765593
|
|
NM_000709.4(BCKDHA):c.511del (p.Leu171fs)
|
rs762084007
|
|
NM_000709.4(BCKDHA):c.718del (p.Ala240fs)
|
rs1555766993
|
|
NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter)
|
rs764247545
|
|
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs)
|
rs794727847
|
|
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)
|
rs398123509
|
|
NM_001142800.2(EYS):c.8150del (p.Lys2717fs)
|
rs1251637752
|
|
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)
|
rs794727262
|
|
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro)
|
rs750594890
|
|
NM_001918.5(DBT):c.363_364del (p.Tyr122fs)
|
rs753574354
|
|
NM_001918.5(DBT):c.51+1G>T
|
rs398123669
|
|
NM_003060.4(SLC22A5):c.1084del (p.Ser362fs)
|
rs1580892239
|
|
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)
|
rs1057518297
|
|
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)
|
rs267607053
|
|
NM_003060.4(SLC22A5):c.148del (p.Cys50fs)
|
rs386134227
|
|
NM_003060.4(SLC22A5):c.1554del (p.Asp519fs)
|
rs1554088578
|
|
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs)
|
rs386134225
|
|
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs)
|
rs1057516797
|
|
NM_003060.4(SLC22A5):c.235del (p.His79fs)
|
rs377767447
|
|
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs)
|
rs377767449
|
|
NM_003060.4(SLC22A5):c.393+1G>A
|
rs1057517069
|
|
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs)
|
rs386134195
|
|
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)
|
rs72552723
|
|
NM_003060.4(SLC22A5):c.56_57delinsCT (p.Arg19Pro)
|
rs1561560424
|
|
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)
|
rs377767444
|
|
NM_003060.4(SLC22A5):c.653-2A>C
|
rs386134201
|
|
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)
|
rs121908893
|
|
NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile)
|
rs72552724
|
|
NM_003060.4(SLC22A5):c.844del (p.Arg282fs)
|
rs386134209
|
|
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe)
|
rs386833823
|
|
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)
|
rs387907170
|
|
NM_015506.3(MMACHC):c.187del (p.Leu63fs)
|
rs1343936481
|
|
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)
|
rs796052000
|
|
NM_015506.3(MMACHC):c.352del (p.Gln118fs)
|
rs749264632
|
|
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)
|
rs796051999
|
|
NM_015506.3(MMACHC):c.500del (p.Pro167fs)
|
rs1553162918
|
|
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)
|
rs1305170860
|
|
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro)
|
rs1233135084
|
|
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)
|
rs747527726
|
|
NM_015506.3(MMACHC):c.626dup (p.Thr210fs)
|
rs1570833527
|
|
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)
|
rs398124296
|
|
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)
|
rs780011606
|
|
NM_032861.4(SERAC1):c.438del (p.Thr147fs)
|
rs1583595091
|
|
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs)
|
rs869312129
|
|
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter)
|
rs386834234
|
|
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)
|
rs190867671
|
|
NM_183050.4(BCKDHB):c.275-2A>G
|
rs1554184224
|
|
NM_183050.4(BCKDHB):c.331C>T (p.Arg111Ter)
|
rs371117671
|
|
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)
|
rs398124573
|
|
NM_183050.4(BCKDHB):c.348del (p.Asp117fs)
|
rs1400121541
|
|
NM_183050.4(BCKDHB):c.368del (p.Pro123fs)
|
rs1085307058
|
|
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter)
|
rs1057516799
|
|
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)
|
rs1772735425
|
|
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)
|
rs398124587
|
|
NM_183050.4(BCKDHB):c.633+1G>T
|
rs398124589
|
|
NM_183050.4(BCKDHB):c.748G>T (p.Glu250Ter)
|
rs398124592
|
|
NM_183050.4(BCKDHB):c.840+2T>G
|
rs398124596
|
|
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs)
|
rs398124601
|
|
NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter)
|
rs1660515780
|
|
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)
|
rs115352681
|
|
NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer)
|
rs2125303672
|
|
NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter)
|
rs1664292210
|
|
NM_201253.3(CRB1):c.1431del (p.Ser478fs)
|
rs1553260321
|
|
NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs)
|
rs1664325377
|
|
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)
|
rs62636266
|
|
NM_201253.3(CRB1):c.20_23del (p.Asn7fs)
|
rs2125193925
|
|
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)
|
rs150412614
|
|
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)
|
rs745348555
|
|
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter)
|
rs62636260
|
|
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)
|
rs62645747
|
|
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)
|
rs369184026
|
|
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)
|
rs564754426
|
|
NM_201253.3(CRB1):c.3427del (p.Cys1143fs)
|
rs2125500431
|
|
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter)
|
rs1558138741
|
|
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)
|
rs1571557864
|
|
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs)
|
rs1366609497
|
|
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)
|
rs2125506459
|
|
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter)
|
rs1665282478
|
|
NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter)
|
rs1665487563
|
|
NM_201253.3(CRB1):c.4006-1G>T
|
rs752804194
|
|
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)
|
rs281865175
|
|
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)
|
rs1667264651
|
|
NM_201253.3(CRB1):c.57dup (p.Ile20fs)
|
rs1343680080
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201253.3(CRB1):c.652+1G>A
|
rs2125304900
|
|
NM_201253.3(CRB1):c.653-1G>A
|
rs760287363
|
|
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer)
|
rs778731851
|
|
NM_201253.3(CRB1):c.71delA
|
|
|
NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs)
|
rs886043587
|
|
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)
|
rs1571878277
|
|
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)
|
rs397517964
|
|
NM_206933.4(USH2A):c.10388-1G>A
|
rs1553261478
|
|
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
|
rs1661659605
|
|
NM_206933.4(USH2A):c.11411del (p.Pro3804fs)
|
rs397517973
|
|
NM_206933.4(USH2A):c.1143+1G>A
|
rs397517974
|
|
NM_206933.4(USH2A):c.1144-2A>T
|
rs2037686445
|
|
NM_206933.4(USH2A):c.11548+2T>G
|
rs1371160062
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
NM_206933.4(USH2A):c.11816_11822dup (p.Val3942fs)
|
rs1659891151
|
|
NM_206933.4(USH2A):c.1214del (p.Asn405fs)
|
rs750228923
|
|
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)
|
rs398124618
|
|
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)
|
rs1657996197
|
|
NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter)
|
rs1657976232
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)
|
rs397517983
|
|
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)
|
rs762159022
|
|
NM_206933.4(USH2A):c.13040_13062delinsTCAGAAGTCA (p.Thr4347fs)
|
rs1657950450
|
|
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
|
rs746447649
|
|
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del)
|
rs111033408
|
|
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)
|
rs397517988
|
|
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)
|
rs747063294
|
|
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)
|
rs727504867
|
|
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter)
|
rs948087886
|
|
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)
|
rs1553250072
|
|
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)
|
rs747160949
|
|
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)
|
rs758660532
|
|
NM_206933.4(USH2A):c.1679del (p.Pro560fs)
|
rs773539640
|
|
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter)
|
rs2037013894
|
|
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)
|
rs868562952
|
|
NM_206933.4(USH2A):c.2035G>T (p.Gly679Ter)
|
rs367693972
|
|
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)
|
rs777629750
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
NM_206933.4(USH2A):c.2809+1G>A
|
rs759433119
|
|
NM_206933.4(USH2A):c.2898del (p.Thr967fs)
|
rs397518008
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter)
|
|
|
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)
|
rs756623509
|
|
NM_206933.4(USH2A):c.4046del (p.Ser1349fs)
|
rs2034899784
|
|
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311
|
|
NM_206933.4(USH2A):c.4707T>G (p.Tyr1569Ter)
|
rs2032459600
|
|
NM_206933.4(USH2A):c.545_546del (p.Lys182fs)
|
rs780779563
|
|
NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr)
|
rs755032078
|
|
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter)
|
rs483353056
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_206933.4(USH2A):c.775_776del (p.Ser259fs)
|
rs2038566220
|
|
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)
|
rs1553273330
|
|
NM_206933.4(USH2A):c.8083A>T (p.Lys2695Ter)
|
rs775921966
|
|
NM_206933.4(USH2A):c.8089G>T (p.Glu2697Ter)
|
rs1558146243
|
|
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)
|
rs397518036
|
|
NM_206933.4(USH2A):c.852_853del
|
rs1188025733
|
|
NM_206933.4(USH2A):c.8681+2T>C
|
rs2102450642
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)
|
rs779572631
|
|
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)
|
rs73090721
|
|
NM_206933.4(USH2A):c.98C>A (p.Ser33Ter)
|
rs2039690812
|
|