NM_000283.4(PDE6B):c.958G>A (p.Val320Ile)
|
rs10902758
|
0.99926
|
NM_054012.4(ASS1):c.597+81A>G
|
rs641510
|
0.91777
|
NM_002150.3(HPD):c.97A>G (p.Thr33Ala)
|
rs1154510
|
0.88222
|
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro)
|
rs9294631
|
0.67363
|
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile)
|
rs11559290
|
0.67086
|
NM_000108.5(DLD):c.439-7T>C
|
rs10263341
|
0.66181
|
NM_000159.4(GCDH):c.*165A>G
|
rs8012
|
0.64188
|
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro)
|
rs2270968
|
0.58081
|
NM_052845.4(MMAB):c.716T>A (p.Met239Lys)
|
rs9593
|
0.57816
|
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro)
|
rs6923492
|
0.56892
|
NM_001985.3(ETFB):c.461C>T (p.Thr154Met)
|
rs1130426
|
0.52772
|
NM_014049.5(ACAD9):c.379A>C (p.Arg127=)
|
rs1680778
|
0.45398
|
NM_001482.3(GATM):c.330A>T (p.Gln110His)
|
rs1288775
|
0.45330
|
NM_000159.4(GCDH):c.*288G>T
|
rs9384
|
0.33464
|
NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met)
|
rs1007160
|
0.31956
|
NM_000159.4(GCDH):c.852+223C>T
|
rs11085825
|
0.30906
|
NM_005050.4(ABCD4):c.184T>C (p.Leu62=)
|
rs2301345
|
0.29779
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)
|
rs1799958
|
0.20617
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_203288.2(RP9):c.629A>G (p.Lys210Arg)
|
rs150987618
|
0.16255
|
NM_201548.5(CERKL):c.895+3A>G
|
rs12623687
|
0.13988
|
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr)
|
rs2229385
|
0.10476
|
NM_006343.3(MERTK):c.844G>A (p.Ala282Thr)
|
rs7588635
|
0.04692
|
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp)
|
rs1800556
|
0.03280
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)
|
rs11555096
|
0.02131
|
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser)
|
rs111784356
|
0.02010
|
NM_004937.3(CTNS):c.124G>A (p.Val42Ile)
|
rs35086888
|
0.01867
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp)
|
rs140776870
|
0.01391
|
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)
|
rs35976361
|
0.01187
|
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr)
|
rs75831552
|
0.01062
|
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)
|
rs2230180
|
0.00920
|
NM_004577.4(PSPH):c.650T>C (p.Val217Ala)
|
rs73343752
|
0.00788
|
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?)
|
rs553265417
|
0.00773
|
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)
|
rs116192290
|
0.00735
|
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)
|
rs111991705
|
0.00667
|
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile)
|
rs61755430
|
0.00628
|
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)
|
rs114819130
|
0.00617
|
NM_000666.3(ACY1):c.1156C>T (p.Arg386Cys)
|
rs2229152
|
0.00516
|
NM_000277.3(PAH):c.820A>G (p.Lys274Glu)
|
rs142934616
|
0.00496
|
NM_006915.3(RP2):c.260C>T (p.Thr87Ile)
|
rs147783915
|
0.00496
|
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)
|
rs62295357
|
0.00465
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_000254.3(MTR):c.155G>A (p.Arg52Gln)
|
rs12749581
|
0.00417
|
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)
|
rs41298432
|
0.00389
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)
|
rs148999583
|
0.00372
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln)
|
rs138075452
|
0.00342
|
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile)
|
rs143898031
|
0.00328
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly)
|
rs34644609
|
0.00309
|
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile)
|
rs112464110
|
0.00293
|
NM_012213.3(MLYCD):c.206C>T (p.Ala69Val)
|
rs200579941
|
0.00284
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser)
|
rs143327210
|
0.00223
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)
|
rs187327463
|
0.00132
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
|
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)
|
rs139203363
|
0.00066
|
NM_000531.6(OTC):c.298+5G>C
|
rs72554348
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_002150.3(HPD):c.1005C>G (p.Ile335Met)
|
rs137852868
|
0.00051
|
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)
|
rs778646190
|
0.00049
|
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)
|
rs778752557
|
0.00049
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_000048.4(ASL):c.392C>T (p.Thr131Met)
|
rs143793815
|
0.00042
|
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)
|
rs541276426
|
0.00041
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00039
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)
|
rs56127440
|
0.00035
|
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln)
|
rs192912733
|
0.00034
|
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg)
|
rs62635032
|
0.00029
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr)
|
rs201518882
|
0.00024
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu)
|
rs200507858
|
0.00022
|
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
0.00018
|
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)
|
rs139444207
|
0.00015
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)
|
rs121434372
|
0.00014
|
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)
|
rs141131444
|
0.00012
|
NM_001370658.1(BTD):c.40_41del (p.Gly14fs)
|
rs765906887
|
0.00012
|
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)
|
rs121434371
|
0.00011
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_003937.3(KYNU):c.773T>C (p.Val258Ala)
|
rs376794557
|
0.00011
|
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter)
|
rs759781200
|
0.00010
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_001370658.1(BTD):c.262A>G (p.Ile88Val)
|
rs976185636
|
0.00009
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_001142800.2(EYS):c.5928-2A>G
|
rs181169439
|
0.00008
|
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
NM_002454.3(MTRR):c.903+469T>C
|
rs893229476
|
0.00007
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)
|
rs137853190
|
0.00006
|
NM_006343.3(MERTK):c.1296+1G>A
|
rs774577413
|
0.00006
|
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
|
rs121907987
|
0.00006
|
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)
|
rs775606471
|
0.00005
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)
|
rs62640587
|
0.00005
|
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly)
|
rs778030177
|
0.00005
|
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)
|
rs371493232
|
0.00005
|
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)
|
rs201493928
|
0.00005
|
NM_001031710.3(KLHL7):c.793+5G>C
|
rs375718274
|
0.00004
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
NM_006269.2(RP1):c.1625C>G (p.Ser542Ter)
|
rs779334655
|
0.00004
|
NM_006343.3(MERTK):c.2189+1G>T
|
rs371956016
|
0.00004
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)
|
rs567564095
|
0.00003
|
NM_000277.3(PAH):c.168+5G>C
|
rs62507288
|
0.00003
|
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)
|
rs151206295
|
0.00003
|
NM_001012720.2(RGR):c.700G>A (p.Ala234Thr)
|
rs377043137
|
0.00003
|
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter)
|
rs928803207
|
0.00003
|
NM_001142800.2(EYS):c.8236G>T (p.Asp2746Tyr)
|
rs1349879153
|
0.00003
|
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)
|
rs763028732
|
0.00003
|
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)
|
rs888739369
|
0.00003
|
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)
|
rs1326370032
|
0.00003
|
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter)
|
rs185461628
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_001958.5(EEF1A2):c.716C>T (p.Thr239Met)
|
rs993963334
|
0.00003
|
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg)
|
rs1264567694
|
0.00003
|
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)
|
rs386134194
|
0.00003
|
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter)
|
rs374017889
|
0.00003
|
NM_000045.4(ARG1):c.3G>A (p.Met1Ile)
|
rs745624953
|
0.00002
|
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)
|
rs377280518
|
0.00002
|
NM_000108.5(DLD):c.1440A>G (p.Ile480Met)
|
rs772512477
|
0.00002
|
NM_000137.4(FAH):c.696C>T (p.Asn232=)
|
rs533540262
|
0.00002
|
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)
|
rs933624223
|
0.00002
|
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys)
|
rs1242741686
|
0.00002
|
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)
|
rs761525156
|
0.00002
|
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)
|
rs965316043
|
0.00002
|
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)
|
rs527236067
|
0.00002
|
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met)
|
rs779953123
|
0.00002
|
NM_003038.5(SLC1A4):c.1370G>A (p.Arg457Gln)
|
rs767412828
|
0.00002
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met)
|
rs1202091819
|
0.00002
|
NM_183050.4(BCKDHB):c.528C>G (p.Asn176Lys)
|
rs763645251
|
0.00002
|
NM_201548.5(CERKL):c.481+2T>G
|
rs753994107
|
0.00002
|
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)
|
rs770273135
|
0.00001
|
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)
|
rs758928307
|
0.00001
|
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)
|
rs202216257
|
0.00001
|
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)
|
rs757109353
|
0.00001
|
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)
|
rs28940585
|
0.00001
|
NM_000137.4(FAH):c.1213T>C (p.Phe405Leu)
|
rs1341466471
|
0.00001
|
NM_000137.4(FAH):c.1214T>A (p.Phe405Tyr)
|
rs1595899559
|
0.00001
|
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)
|
rs139851890
|
0.00001
|
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)
|
rs150171524
|
0.00001
|
NM_000170.3(GLDC):c.2441C>T (p.Ser814Phe)
|
rs763075374
|
0.00001
|
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)
|
rs1554648117
|
0.00001
|
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu)
|
rs1570650181
|
0.00001
|
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)
|
rs121964958
|
0.00001
|
NM_000320.3(QDPR):c.661C>T (p.Arg221Ter)
|
rs779997983
|
0.00001
|
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter)
|
rs121918576
|
0.00001
|
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)
|
rs753942596
|
0.00001
|
NM_000531.6(OTC):c.493G>C (p.Asp165His)
|
rs72556275
|
0.00001
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter)
|
rs1305702728
|
0.00001
|
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter)
|
rs137853189
|
0.00001
|
NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter)
|
rs1326635278
|
0.00001
|
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)
|
rs373203896
|
0.00001
|
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr)
|
rs948998853
|
0.00001
|
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter)
|
rs753314164
|
0.00001
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_001375654.1(RP1):c.2212-1G>A
|
rs997666144
|
0.00001
|
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
NM_001918.5(DBT):c.206T>C (p.Leu69Pro)
|
rs1663813561
|
0.00001
|
NM_002225.5(IVD):c.1206del (p.Ile402fs)
|
rs1595797766
|
0.00001
|
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)
|
rs1237032588
|
0.00001
|
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)
|
rs137853062
|
0.00001
|
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)
|
rs754990692
|
0.00001
|
NM_003038.5(SLC1A4):c.272T>C (p.Leu91Pro)
|
rs1037527372
|
0.00001
|
NM_006017.3(PROM1):c.1984-1G>T
|
rs373680665
|
0.00001
|
NM_006269.2(RP1):c.1265dup (p.Ala423fs)
|
rs770659908
|
0.00001
|
NM_006343.3(MERTK):c.2303C>T (p.Ala768Val)
|
rs778383770
|
0.00001
|
NM_014251.3(SLC25A13):c.848+1G>T
|
rs761370420
|
0.00001
|
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter)
|
rs199979286
|
0.00001
|
NM_033100.4(CDHR1):c.862+4A>C
|
rs1352559639
|
0.00001
|
NM_054012.4(ASS1):c.175-1119G>A
|
rs1488840592
|
0.00001
|
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu)
|
rs936922976
|
0.00001
|
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)
|
rs751599203
|
0.00001
|
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr)
|
rs914935376
|
0.00001
|
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp)
|
rs1003615909
|
0.00001
|
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter)
|
rs754833969
|
|
NM_000016.6(ACADM):c.387+1del
|
rs786204424
|
|
NM_000016.6(ACADM):c.709G>T (p.Glu237Ter)
|
rs1570891615
|
|
NM_000018.4(ACADVL):c.1292A>G (p.Asp431Gly)
|
rs2142985073
|
|
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala)
|
rs2309689
|
|
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)
|
rs794727112
|
|
NM_000018.4(ACADVL):c.1752-1G>A
|
rs2142990593
|
|
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)
|
rs765432568
|
|
NM_000018.4(ACADVL):c.865G>C (p.Gly289Arg)
|
rs200788251
|
|
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)
|
rs1233969418
|
|
NM_000026.2(ADSL):c.[1277G>A;994G>C]
|
|
|
NM_000026.4(ADSL):c.1152CAT[2] (p.Ile386del)
|
rs1601596522
|
|
NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter)
|
rs747964752
|
|
NM_000026.4(ADSL):c.581G>A (p.Arg194His)
|
rs755359802
|
|
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile)
|
rs1601586359
|
|
NM_000026.4(ADSL):c.994G>C (p.Asp332His)
|
rs776496275
|
|
NM_000045.4(ARG1):c.317G>A (p.Gly106Glu)
|
rs1441486160
|
|
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)
|
rs1451472748
|
|
NM_000045.4(ARG1):c.646_649del (p.Leu216fs)
|
rs756080885
|
|
NM_000048.4(ASL):c.299T>A (p.Ile100Asn)
|
rs202142867
|
|
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
|
|
|
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu)
|
rs886039146
|
|
NM_000137.4(FAH):c.1003_1004del (p.Val335fs)
|
rs1595897345
|
|
NM_000137.4(FAH):c.61G>T (p.Val21Phe)
|
rs2041065908
|
|
NM_000137.4(FAH):c.745C>T (p.Pro249Ser)
|
rs1595894742
|
|
NM_000159.4(GCDH):c.1142T>C (p.Ile381Thr)
|
rs772654647
|
|
NM_000159.4(GCDH):c.1222G>A (p.Glu408Lys)
|
rs1599619180
|
|
NM_000159.4(GCDH):c.424A>C (p.Ser142Arg)
|
rs2145944277
|
|
NM_000159.4(GCDH):c.671T>G (p.Val224Gly)
|
rs1970675584
|
|
NM_000159.4(GCDH):c.91+5G>A
|
rs952356983
|
|
NM_000161.3(GCH1):c.26_27insTCT (p.Pro9_Ala10insLeu)
|
rs1595031768
|
|
NM_000161.3(GCH1):c.305T>C (p.Met102Thr)
|
rs2140127042
|
|
NM_000161.3(GCH1):c.510-1G>T
|
rs1555358604
|
|
NM_000161.3(GCH1):c.601G>T (p.Gly201Ter)
|
rs2140041673
|
|
NM_000161.3(GCH1):c.646C>T (p.Arg216Ter)
|
rs41298440
|
|
NM_000170.3(GLDC):c.2316-6dup
|
rs3215923
|
|
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val)
|
rs386833566
|
|
NM_000170.3(GLDC):c.2838+1G>A
|
rs542056100
|
|
NM_000170.3(GLDC):c.635+1G>A
|
rs1368757896
|
|
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter)
|
rs386833585
|
|
NM_000191.3(HMGCL):c.230del (p.Val77fs)
|
rs1638632303
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
NM_000254.3(MTR):c.*16del
|
rs67705775
|
|
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs)
|
rs1664521219
|
|
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser)
|
rs1413989228
|
|
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu)
|
rs1581831934
|
|
NM_000255.4(MMUT):c.1022dup (p.Asn341fs)
|
rs752898811
|
|
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs)
|
rs1227030642
|
|
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp)
|
rs1581829908
|
|
NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr)
|
rs1302409621
|
|
NM_000255.4(MMUT):c.959C>T (p.Ala320Val)
|
rs1581832011
|
|
NM_000276.4(OCRL):c.40-80dup
|
rs369736288
|
|
NM_000277.1(PAH):c.[353-507G>T;754C>T]
|
|
|
NM_000277.3(PAH):c.1085C>G (p.Pro362Arg)
|
rs1592947563
|
|
NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs)
|
rs1592947538
|
|
NM_000277.3(PAH):c.168+5G>A
|
rs62507288
|
|
NM_000277.3(PAH):c.239dup (p.Thr81fs)
|
rs1592978816
|
|
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)
|
rs77554925
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
NM_000281.4(PCBD1):c.272del (p.Asn91fs)
|
rs1589483932
|
|
NM_000282.4(PCCA):c.1994dup (p.Met666fs)
|
rs1323994245
|
|
NM_000282.4(PCCA):c.562_573del (p.Glu188_Thr191del)
|
rs2152478820
|
|
NM_000282.4(PCCA):c.843del (p.Asn281fs)
|
rs1555400381
|
|
NM_000283.4(PDE6B):c.2021+2T>G
|
rs1577301589
|
|
NM_000283.4(PDE6B):c.2395C>T (p.Arg799Ter)
|
rs970990957
|
|
NM_000283.4(PDE6B):c.2442T>A (p.Tyr814Ter)
|
rs1577311264
|
|
NM_000320.3(QDPR):c.174del (p.Ser59fs)
|
rs1577195951
|
|
NM_000320.3(QDPR):c.421del (p.Leu141fs)
|
rs1577191558
|
|
NM_000353.3(TAT):c.707-2A>G
|
rs1005382525
|
|
NM_000360.4(TH):c.293_295dup (p.Arg98_Ala99insGly)
|
rs1590170978
|
|
NM_000360.4(TH):c.628G>A (p.Ala210Thr)
|
rs1260455415
|
|
NM_000360.4(TH):c.724C>T (p.Leu242Phe)
|
rs1457094087
|
|
NM_000360.4(TH):c.815T>G (p.Leu272Arg)
|
rs775410637
|
|
NM_000440.3(PDE6A):c.1286G>A (p.Trp429Ter)
|
rs1390479623
|
|
NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter)
|
rs1581180469
|
|
NM_000440.3(PDE6A):c.1674C>G (p.Tyr558Ter)
|
rs375659222
|
|
NM_000440.3(PDE6A):c.1838+1G>A
|
rs2113558095
|
|
NM_000440.3(PDE6A):c.2064del (p.Lys689fs)
|
rs1581164958
|
|
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)
|
rs753221440
|
|
NM_000481.4(AMT):c.478del (p.Val160fs)
|
rs1575305901
|
|
NM_000481.4(AMT):c.908del (p.Pro303fs)
|
rs1575303218
|
|
NM_000531.6(OTC):c.275G>A (p.Arg92Gln)
|
rs66550389
|
|
NM_000531.6(OTC):c.387-1G>A
|
rs1602029522
|
|
NM_000531.6(OTC):c.407A>T (p.Asp136Val)
|
rs72556257
|
|
NM_000531.6(OTC):c.422G>C (p.Arg141Pro)
|
rs68026851
|
|
NM_000531.6(OTC):c.491C>T (p.Ser164Leu)
|
rs72556274
|
|
NM_000531.6(OTC):c.506C>T (p.Pro169Leu)
|
rs72556278
|
|
NM_000531.6(OTC):c.540+265G>A
|
rs1555975756
|
|
NM_000531.6(OTC):c.717G>C (p.Glu239Asp)
|
rs66851495
|
|
NM_000531.6(OTC):c.77G>T (p.Arg26Leu)
|
rs68031618
|
|
NM_000531.6(OTC):c.867G>A (p.Lys289=)
|
rs72558456
|
|
NM_000531.6(OTC):c.974C>T (p.Pro325Leu)
|
rs1602034625
|
|
NM_000532.5(PCCB):c.1091-8_1091-3del
|
rs1249235758
|
|
NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter)
|
rs768935968
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)
|
rs755776820
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
NM_000539.3(RHO):c.1034T>C (p.Val345Ala)
|
rs1578281706
|
|
NM_000539.3(RHO):c.173C>G (p.Thr58Arg)
|
rs28933394
|
|
NM_000539.3(RHO):c.317G>T (p.Gly106Val)
|
rs1578278417
|
|
NM_000539.3(RHO):c.45T>G (p.Asn15Lys)
|
rs1578278088
|
|
NM_000539.3(RHO):c.509C>G (p.Pro170Arg)
|
rs1553781176
|
|
NM_000539.3(RHO):c.557C>G (p.Ser186Trp)
|
rs371288618
|
|
NM_000539.3(RHO):c.937-2A>T
|
rs1578281565
|
|
NM_000554.6(CRX):c.545C>G (p.Ser182Ter)
|
rs2123743235
|
|
NM_000554.6(CRX):c.586_587del (p.Ala196fs)
|
rs2123743320
|
|
NM_000554.6(CRX):c.766C>T (p.Gln256Ter)
|
rs1968173024
|
|
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn)
|
rs2122122610
|
|
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val)
|
rs887411374
|
|
NM_000836.4(GRIN2D):c.1605G>T (p.Met535Ile)
|
rs1390364278
|
|
NM_000836.4(GRIN2D):c.1997C>T (p.Ala666Val)
|
rs2147455888
|
|
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile)
|
rs886040861
|
|
NM_001012720.2(RGR):c.820del (p.Arg274fs)
|
rs1589337745
|
|
NM_001029883.3(PCARE):c.3673_3675dupAGC
|
|
|
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp)
|
rs1601982532
|
|
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter)
|
rs1601924184
|
|
NM_001034853.2(RPGR):c.2140G>T (p.Glu714Ter)
|
rs2147199519
|
|
NM_001034853.2(RPGR):c.2185G>T (p.Glu729Ter)
|
rs1601923813
|
|
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter)
|
rs983693027
|
|
NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter)
|
rs2147197584
|
|
NM_001034853.2(RPGR):c.248-2A>G
|
rs62638633
|
|
NM_001034853.2(RPGR):c.2522_2525dup (p.Glu843fs)
|
rs2147197113
|
|
NM_001034853.2(RPGR):c.2522del (p.Glu841fs)
|
rs1601922202
|
|
NM_001034853.2(RPGR):c.280T>C (p.Cys94Arg)
|
rs1601978925
|
|
NM_001034853.2(RPGR):c.29-2A>G
|
rs2147291936
|
|
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del)
|
rs1356107537
|
|
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)
|
rs606231181
|
|
NM_001034853.2(RPGR):c.310+1_310+2insGGTGCTCAACCT
|
rs1601978817
|
|
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs)
|
rs1601917999
|
|
NM_001034853.2(RPGR):c.310G>T (p.Glu104Ter)
|
rs1601978823
|
|
NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter)
|
rs2147190626
|
|
NM_001034853.2(RPGR):c.3200_3218dup (p.Glu1075fs)
|
rs2147190484
|
|
NM_001034853.2(RPGR):c.389_390del (p.Phe130fs)
|
rs1601974881
|
|
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr)
|
rs1601961064
|
|
NM_001034853.2(RPGR):c.957del (p.Phe319fs)
|
rs1601947074
|
|
NM_001080.3(ALDH5A1):c.1014+60TG[6]
|
rs199737070
|
|
NM_001080442.3(SLC38A8):c.388+1G>T
|
rs149436446
|
|
NM_001142800.2(EYS):c.1299+5_1299+8del
|
rs1562140604
|
|
NM_001142800.2(EYS):c.1328dup (p.Asn443fs)
|
rs1582176424
|
|
NM_001142800.2(EYS):c.2055_2056del (p.Ala686fs)
|
rs1583442540
|
|
NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter)
|
rs1391928253
|
|
NM_001142800.2(EYS):c.2820_2824del (p.Gly941fs)
|
rs1583277585
|
|
NM_001142800.2(EYS):c.2981del (p.Pro994fs)
|
rs1583260302
|
|
NM_001142800.2(EYS):c.4073del (p.Pro1358fs)
|
rs2149832474
|
|
NM_001142800.2(EYS):c.4977_4978del (p.Cys1660fs)
|
rs2149831647
|
|
NM_001142800.2(EYS):c.5182del (p.Ser1728fs)
|
rs1562079278
|
|
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter)
|
rs983691310
|
|
NM_001142800.2(EYS):c.7572G>A (p.Trp2524Ter)
|
rs902462590
|
|
NM_001142800.2(EYS):c.8408dup (p.Asn2803fs)
|
rs398123576
|
|
NM_001142800.2(EYS):c.8590G>T (p.Gly2864Ter)
|
rs1582140331
|
|
NM_001142800.2(EYS):c.8750T>A (p.Leu2917Ter)
|
rs764362221
|
|
NM_001142800.2(EYS):c.8830del (p.Val2944fs)
|
rs776526721
|
|
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)
|
rs886044149
|
|
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)
|
rs769824975
|
|
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs)
|
rs771640639
|
|
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs)
|
rs1166245419
|
|
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu)
|
rs1060503519
|
|
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg)
|
rs1596427970
|
|
NM_001271.4(CHD2):c.3187G>T (p.Glu1063Ter)
|
rs1596436494
|
|
NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter)
|
rs767106034
|
|
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs)
|
rs752940775
|
|
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer)
|
rs748694853
|
|
NM_001297.5(CNGB1):c.1122-2A>T
|
rs1596997875
|
|
NM_001297.5(CNGB1):c.1958-1G>A
|
rs888090139
|
|
NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu)
|
rs879255699
|
|
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile)
|
rs797045013
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu)
|
rs1592149771
|
|
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly)
|
rs863225295
|
|
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser)
|
rs1064793263
|
|
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu)
|
rs1555228931
|
|
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe)
|
rs1555229496
|
|
NM_001330260.2(SCN8A):c.4883T>C (p.Leu1628Ser)
|
rs1555230928
|
|
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr)
|
rs1555231012
|
|
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)
|
rs796053228
|
|
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)
|
rs587780455
|
|
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter)
|
rs1174060268
|
|
NM_001352514.2(HLCS):c.2279T>C (p.Ile760Thr)
|
rs2145731903
|
|
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser)
|
rs1344607767
|
|
NM_001370658.1(BTD):c.203del (p.Gln68fs)
|
rs1575013953
|
|
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)
|
rs397514354
|
|
NM_001370658.1(BTD):c.44_45del (p.Cys15fs)
|
rs750965140
|
|
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)
|
rs955385869
|
|
NM_001370658.1(BTD):c.705C>G (p.Ile235Met)
|
rs1575029719
|
|
NM_001370658.1(BTD):c.798del (p.Ala267fs)
|
rs1575029897
|
|
NM_001379270.1(CNGA1):c.546-1G>C
|
rs1037963003
|
|
NM_001609.4(ACADSB):c.1128+20_1128+26dup
|
rs10571424
|
|
NM_001875.5(CPS1):c.1207del (p.Ala403fs)
|
rs1574566578
|
|
NM_001875.5(CPS1):c.1291G>A (p.Gly431Arg)
|
rs778766382
|
|
NM_001875.5(CPS1):c.1329C>G (p.Tyr443Ter)
|
rs1574567901
|
|
NM_001875.5(CPS1):c.2548C>G (p.Arg850Gly)
|
rs1015051007
|
|
NM_001875.5(CPS1):c.3125A>C (p.Asp1042Ala)
|
rs1574632659
|
|
NM_001875.5(CPS1):c.345_351del (p.Gly116fs)
|
rs2106079710
|
|
NM_001875.5(CPS1):c.3517G>C (p.Ala1173Pro)
|
rs1574646079
|
|
NM_001875.5(CPS1):c.3666+77dup
|
rs61108700
|
|
NM_001875.5(CPS1):c.4275-2A>C
|
rs2105945930
|
|
NM_001876.4(CPT1A):c.2259_2261dup (p.Leu754dup)
|
rs1594313040
|
|
NM_001918.5(DBT):c.1082dup (p.Asn361fs)
|
rs1570806631
|
|
NM_001918.5(DBT):c.442G>T (p.Glu148Ter)
|
rs1570820579
|
|
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly)
|
rs776608445
|
|
NM_002860.4(ALDH18A1):c.401C>T (p.Ser134Phe)
|
rs2139621988
|
|
NM_003042.4(SLC6A1):c.1151TCT[2] (p.Phe386del)
|
rs2124930894
|
|
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg)
|
rs886042046
|
|
NM_003042.4(SLC6A1):c.317A>G (p.Gln106Arg)
|
rs1064795290
|
|
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys)
|
rs2124908722
|
|
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs)
|
rs1553688970
|
|
NM_003042.4(SLC6A1):c.806T>C (p.Leu269Pro)
|
rs2124924369
|
|
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del)
|
rs1574907198
|
|
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs)
|
rs377767449
|
|
NM_003060.4(SLC22A5):c.631T>C (p.Tyr211His)
|
rs780314370
|
|
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)
|
rs386134199
|
|
NM_003060.4(SLC22A5):c.952-5_955del
|
rs2126787981
|
|
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser)
|
rs1131692025
|
|
NM_004408.4(DNM1):c.985C>G (p.Leu329Val)
|
rs868772525
|
|
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys)
|
rs2150312299
|
|
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)
|
rs754418186
|
|
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)
|
rs1561251388
|
|
NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser)
|
rs1580423432
|
|
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs)
|
rs1469053638
|
|
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)
|
rs549150456
|
|
NM_004453.4(ETFDH):c.684+2T>G
|
rs1580406119
|
|
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly)
|
rs78599516
|
|
NM_004698.4(PRPF3):c.-48-2A>T
|
rs782747350
|
|
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)
|
rs550254092
|
|
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile)
|
rs1553181282
|
|
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala)
|
rs1553181280
|
|
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro)
|
rs2146813611
|
|
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro)
|
rs2146813509
|
|
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter)
|
rs781663444
|
|
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe)
|
rs1601072041
|
|
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser)
|
rs1601071747
|
|
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)
|
rs1984264748
|
|
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe)
|
rs1984259606
|
|
NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala)
|
rs121909734
|
|
NM_005327.7(HADH):c.261+1G>A
|
rs1398546361
|
|
NM_005327.7(HADH):c.587del (p.Ser196fs)
|
rs745727504
|
|
NM_005327.7(HADH):c.636+2_636+3insCT
|
rs2126234552
|
|
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=)
|
rs1603216989
|
|
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg)
|
rs1603217473
|
|
NM_005629.4(SLC6A8):c.980dup (p.Ser329fs)
|
rs2148362976
|
|
NM_005802.5(TOPORS):c.2556_2557del (p.Glu852fs)
|
rs527236116
|
|
NM_005802.5(TOPORS):c.2895dup (p.Cys966fs)
|
rs1246790145
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006017.3(PROM1):c.436C>T (p.Arg146Ter)
|
rs780697796
|
|
NM_006017.3(PROM1):c.784+1G>A
|
rs745704627
|
|
NM_006017.3(PROM1):c.869del (p.Ser290fs)
|
rs1355802816
|
|
NM_006269.2(RP1):c.1234dup (p.Met412fs)
|
rs760283610
|
|
NM_006269.2(RP1):c.2778T>A (p.Tyr926Ter)
|
rs1585564369
|
|
NM_006343.3(MERTK):c.1296+1G>C
|
rs774577413
|
|
NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys)
|
rs746291728
|
|
NM_006343.3(MERTK):c.992_993del (p.Ser331fs)
|
rs1573613491
|
|
NM_006445.4(PRPF8):c.6991G>A (p.Glu2331Lys)
|
rs1597223220
|
|
NM_006445.4(PRPF8):c.6994dup (p.Asp2332fs)
|
rs1597223214
|
|
NM_006721.4(ADK):c.1031C>T (p.Ala344Val)
|
rs1589387419
|
|
NM_006721.4(ADK):c.727-8del
|
rs112610475
|
|
NM_006915.3(RP2):c.102G>A (p.Lys34=)
|
rs1556313552
|
|
NM_006915.3(RP2):c.158del (p.Leu53fs)
|
rs1602347637
|
|
NM_006915.3(RP2):c.884-14G>A
|
rs1602354996
|
|
NM_006915.3(RP2):c.932del (p.Cys311fs)
|
rs1602355025
|
|
NM_012469.4(PRPF6):c.2593C>T (p.His865Tyr)
|
rs1037019727
|
|
NM_014014.5(SNRNP200):c.1405A>G (p.Lys469Glu)
|
rs933842186
|
|
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)
|
rs959069360
|
|
NM_014014.5(SNRNP200):c.2183G>T (p.Arg728Leu)
|
rs1477839027
|
|
NM_014049.5(ACAD9):c.808+63GT[14]
|
rs63473460
|
|
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)
|
rs200895671
|
|
NM_015629.4(PRPF31):c.165G>A (p.Trp55Ter)
|
rs1439576531
|
|
NM_015629.4(PRPF31):c.205del (p.Glu69fs)
|
rs2146394096
|
|
NM_015629.4(PRPF31):c.322+1G>A
|
rs1600335289
|
|
NM_015629.4(PRPF31):c.335del (p.Lys112fs)
|
rs1600337158
|
|
NM_015629.4(PRPF31):c.3G>A (p.Met1Ile)
|
rs1600324262
|
|
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter)
|
rs764232082
|
|
NM_015629.4(PRPF31):c.856-1G>A
|
rs1600350656
|
|
NM_015629.4(PRPF31):c.89_92del (p.Pro30fs)
|
rs1600324442
|
|
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter)
|
rs1555794205
|
|
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)
|
rs749521854
|
|
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
|
rs150384171
|
|
NM_018706.7(DHTKD1):c.2154_2154+1insT
|
rs1588616299
|
|
NM_020166.5(MCCC1):c.273+53A>C
|
rs3732604
|
|
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del)
|
rs747975797
|
|
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del)
|
rs747975797
|
|
NM_021800.3(DNAJC12):c.124C>T (p.His42Tyr)
|
rs1055578473
|
|
NM_024818.6(UBA5):c.1A>G (p.Met1Val)
|
rs2107921941
|
|
NM_024818.6(UBA5):c.36_37del (p.Gln13fs)
|
rs2107922089
|
|
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)
|
rs139301835
|
|
NM_033100.4(CDHR1):c.1782+1del
|
rs1589307705
|
|
NM_033100.4(CDHR1):c.2197G>T (p.Val733Phe)
|
rs1589309412
|
|
NM_033100.4(CDHR1):c.348+5G>T
|
rs1412093692
|
|
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)
|
rs35269064
|
|
NM_058179.4(PSAT1):c.121+5G>A
|
rs372232840
|
|
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter)
|
rs754545360
|
|
NM_177550.5(SLC13A5):c.103-1G>A
|
rs1597677742
|
|
NM_177550.5(SLC13A5):c.1276-1G>A
|
rs1597657030
|
|
NM_177550.5(SLC13A5):c.272T>C (p.Leu91Pro)
|
rs1555543400
|
|
NM_177965.4(CFAP418):c.94G>A (p.Gly32Ser)
|
rs779716988
|
|
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)
|
rs398124560
|
|
NM_183050.4(BCKDHB):c.1039-2A>G
|
rs2128020522
|
|
NM_183050.4(BCKDHB):c.478A>T (p.Ile160Phe)
|
rs1582275277
|
|