NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_002225.5(IVD):c.164A>T (p.Lys55Met)
|
rs145999491
|
0.00093
|
NM_174878.3(CLRN1):c.433+1061A>T
|
rs567709615
|
0.00067
|
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)
|
rs201346206
|
0.00038
|
NM_000327.4(ROM1):c.339dup (p.Leu114fs)
|
rs71458427
|
0.00033
|
NM_001102564.3(IFT43):c.296-5602T>C
|
rs141114765
|
0.00020
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
0.00014
|
NM_000360.4(TH):c.91-868C>T
|
rs148235227
|
0.00012
|
NM_000531.6(OTC):c.385C>T (p.Arg129Cys)
|
rs140046498
|
0.00009
|
NM_000541.5(SAG):c.944+5G>A
|
rs374048703
|
0.00007
|
NM_014014.5(SNRNP200):c.4943G>A (p.Arg1648Gln)
|
rs200426430
|
0.00007
|
NM_018706.7(DHTKD1):c.718-5A>G
|
rs374421488
|
0.00007
|
NM_033100.4(CDHR1):c.1220G>A (p.Arg407Gln)
|
rs201004571
|
0.00006
|
NM_000360.4(TH):c.110G>A (p.Arg37His)
|
rs368122376
|
0.00005
|
NM_000531.6(OTC):c.1005+11A>T
|
rs375524303
|
0.00005
|
NM_000283.4(PDE6B):c.559G>A (p.Val187Met)
|
rs138615156
|
0.00004
|
NM_012469.4(PRPF6):c.2755A>G (p.Ile919Val)
|
rs149771221
|
0.00004
|
NM_000283.4(PDE6B):c.1107+3A>G
|
rs370898371
|
0.00003
|
NM_000481.4(AMT):c.1082C>T (p.Ala361Val)
|
rs757293245
|
0.00003
|
NM_001876.4(CPT1A):c.1112C>T (p.Ser371Leu)
|
rs376430455
|
0.00003
|
NM_000329.3(RPE65):c.1243+10T>C
|
rs548537552
|
0.00002
|
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)
|
rs104894187
|
0.00002
|
NM_005957.5(MTHFR):c.1571C>A (p.Ala524Glu)
|
rs774934088
|
0.00002
|
NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn)
|
rs753732597
|
0.00002
|
NM_178857.6(RP1L1):c.5929G>A (p.Val1977Ile)
|
rs534151176
|
0.00002
|
NM_000283.4(PDE6B):c.1859A>G (p.His620Arg)
|
rs1737315492
|
0.00001
|
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys)
|
rs749657417
|
0.00001
|
NM_001003841.3(SLC6A19):c.1468G>A (p.Gly490Ser)
|
rs775323445
|
0.00001
|
NM_001271.4(CHD2):c.3367G>T (p.Val1123Leu)
|
rs1295966448
|
0.00001
|
NM_001876.4(CPT1A):c.421G>A (p.Gly141Ser)
|
rs1309112630
|
0.00001
|
NM_002900.3(RBP3):c.2789T>C (p.Ile930Thr)
|
rs370922435
|
0.00001
|
NM_003124.5(SPR):c.610G>C (p.Asp204His)
|
rs1430511579
|
0.00001
|
NM_003611.3(OFD1):c.1999G>A (p.Ala667Thr)
|
rs1394450537
|
0.00001
|
NM_004483.5(GCSH):c.49C>T (p.Arg17Cys)
|
rs967101315
|
0.00001
|
NM_004698.4(PRPF3):c.508-13C>G
|
rs373033761
|
0.00001
|
NM_012469.4(PRPF6):c.1582G>A (p.Ala528Thr)
|
rs2059240399
|
0.00001
|
NM_014014.5(SNRNP200):c.557A>G (p.Lys186Arg)
|
rs767984565
|
0.00001
|
NM_016247.4(IMPG2):c.3179T>G (p.Phe1060Cys)
|
rs781743972
|
0.00001
|
NM_033100.4(CDHR1):c.1114C>T (p.Pro372Ser)
|
rs143621397
|
0.00001
|
NM_178857.6(RP1L1):c.2720C>T (p.Ala907Val)
|
rs758561870
|
0.00001
|
NM_178857.6(RP1L1):c.3203G>A (p.Cys1068Tyr)
|
rs775897747
|
0.00001
|
NM_000019.4(ACAT1):c.575A>G (p.His192Arg)
|
rs2077528154
|
|
NM_000108.5(DLD):c.857A>G (p.Asp286Gly)
|
rs192349677
|
|
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe)
|
rs910012804
|
|
NM_000159.4(GCDH):c.-47G>A
|
rs952257144
|
|
NM_000283.4(PDE6B):c.2353-7_2353-3del
|
rs1737974000
|
|
NM_000283.4(PDE6B):c.546T>A (p.Asn182Lys)
|
rs368094720
|
|
NM_000327.4(ROM1):c.629A>G (p.Asp210Gly)
|
rs200287184
|
|
NM_000360.4(TH):c.818A>C (p.Glu273Ala)
|
rs1846110049
|
|
NM_000531.6(OTC):c.845A>G (p.Gln282Arg)
|
rs2068530314
|
|
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr)
|
rs1197317905
|
|
NM_000554.6(CRX):c.139A>C (p.Thr47Pro)
|
rs1939392843
|
|
NM_001012720.2(RGR):c.679del (p.Tyr227fs)
|
rs1842908009
|
|
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter)
|
rs762247018
|
|
NM_001034853.2(RPGR):c.1506+4del
|
rs2067276668
|
|
NM_001034853.2(RPGR):c.457G>A (p.Ala153Thr)
|
rs2067875526
|
|
NM_001142800.2(EYS):c.1299+5_1299+8del
|
rs1562140604
|
|
NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)
|
rs1554163965
|
|
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu)
|
rs747228733
|
|
NM_001271.4(CHD2):c.4845G>C (p.Gln1615His)
|
rs1427359303
|
|
NM_001271.4(CHD2):c.4963C>A (p.Pro1655Thr)
|
rs2054514484
|
|
NM_001271.4(CHD2):c.692+10A>G
|
rs370469675
|
|
NM_001297.5(CNGB1):c.1418A>G (p.Asp473Gly)
|
rs769808679
|
|
NM_001297.5(CNGB1):c.1741A>G (p.Lys581Glu)
|
rs1960999459
|
|
NM_001330260.2(SCN8A):c.197C>A (p.Pro66His)
|
rs1940955829
|
|
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn)
|
rs1023188648
|
|
NM_001354768.3(NRL):c.448_466dup (p.Glu156fs)
|
rs1555339028
|
|
NM_001690.4(ATP6V1A):c.1227-6A>G
|
rs1709148623
|
|
NM_001690.4(ATP6V1A):c.1531G>C (p.Val511Leu)
|
rs1709239976
|
|
NM_001876.4(CPT1A):c.1528C>T (p.Pro510Ser)
|
rs1279443212
|
|
NM_001918.5(DBT):c.391G>A (p.Val131Met)
|
rs1663510723
|
|
NM_002860.4(ALDH18A1):c.1990C>T (p.Leu664Phe)
|
rs2097834101
|
|
NM_002860.4(ALDH18A1):c.2159T>C (p.Phe720Ser)
|
rs2097831271
|
|
NM_002860.4(ALDH18A1):c.89-6C>G
|
rs2097895286
|
|
NM_003124.5(SPR):c.308C>G (p.Ser103Cys)
|
rs748740519
|
|
NM_003124.5(SPR):c.497G>A (p.Gly166Asp)
|
rs1404932614
|
|
NM_004170.6(SLC1A1):c.875+8A>G
|
rs12682807
|
|
NM_004171.4(SLC1A2):c.1046C>T (p.Ala349Val)
|
rs1851035772
|
|
NM_004171.4(SLC1A2):c.609G>C (p.Glu203Asp)
|
rs1851499526
|
|
NM_004698.4(PRPF3):c.500C>T (p.Thr167Ile)
|
rs1656552502
|
|
NM_005271.5(GLUD1):c.226C>T (p.Arg76Cys)
|
rs1841666156
|
|
NM_005629.4(SLC6A8):c.1767+9C>G
|
rs782076464
|
|
NM_005802.5(TOPORS):c.1379G>C (p.Gly460Ala)
|
rs146483990
|
|
NM_005802.5(TOPORS):c.223T>C (p.Phe75Leu)
|
rs1821114318
|
|
NM_005802.5(TOPORS):c.2666A>G (p.His889Arg)
|
rs762457246
|
|
NM_006445.4(PRPF8):c.104G>T (p.Arg35Leu)
|
rs774010147
|
|
NM_006445.4(PRPF8):c.1208C>T (p.Ala403Val)
|
rs1912802818
|
|
NM_006445.4(PRPF8):c.239del (p.Lys80fs)
|
rs1913055670
|
|
NM_006445.4(PRPF8):c.809A>G (p.Asn270Ser)
|
rs756656471
|
|
NM_006445.4(PRPF8):c.926G>A (p.Arg309His)
|
rs775023296
|
|
NM_006859.4(LIAS):c.393+7C>G
|
rs372423537
|
|
NM_012469.4(PRPF6):c.1186+13C>G
|
rs376567998
|
|
NM_012469.4(PRPF6):c.1451A>C (p.Glu484Ala)
|
rs2059216772
|
|
NM_014014.5(SNRNP200):c.1786A>G (p.Ile596Val)
|
rs1471564053
|
|
NM_014014.5(SNRNP200):c.629A>G (p.Glu210Gly)
|
rs995570532
|
|
NM_016247.4(IMPG2):c.586A>G (p.Thr196Ala)
|
rs1463411745
|
|
NM_016373.4(WWOX):c.16T>C (p.Tyr6His)
|
rs1239497096
|
|
NM_016373.4(WWOX):c.517C>T (p.His173Tyr)
|
rs777272586
|
|
NM_016373.4(WWOX):c.791+18A>T
|
rs1023123497
|
|
NM_020166.5(MCCC1):c.370-16T>G
|
rs1716772551
|
|
NM_033100.4(CDHR1):c.2051_2056del (p.Arg684_Ser685del)
|
rs760555697
|
|
NM_178857.6(RP1L1):c.5929G>C (p.Val1977Leu)
|
rs534151176
|
|
NM_205861.3(DHDDS):c.584A>C (p.Asn195Thr)
|
rs778754350
|
|