NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)
|
rs768445391
|
0.00004
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)
|
rs765338121
|
0.00004
|
NM_001080442.3(SLC38A8):c.806-3C>G
|
rs1057516193
|
0.00003
|
NM_001297.5(CNGB1):c.2893-7G>A
|
rs749199721
|
0.00003
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
NM_000255.4(MMUT):c.1243G>T (p.Glu415Ter)
|
rs748129702
|
0.00001
|
NM_001142800.2(EYS):c.6623G>A (p.Gly2208Glu)
|
rs1197105310
|
0.00001
|
NM_201548.5(CERKL):c.1550_1554dup (p.Ile519fs)
|
rs773497189
|
0.00001
|
NM_201548.5(CERKL):c.239-2A>G
|
rs776886395
|
0.00001
|
GRCh37/hg19 19q13.42(chr19:54618744-54622073)x1
|
|
|
NM_000018.4(ACADVL):c.864del (p.Phe288fs)
|
rs1555528386
|
|
NM_000045.4(ARG1):c.30del (p.Ile11fs)
|
rs1773467460
|
|
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)
|
rs121964963
|
|
NM_000137.4(FAH):c.82_83del (p.Pro28fs)
|
rs1595889891
|
|
NM_000159.4(GCDH):c.1159G>A (p.Asp387Asn)
|
rs1970720537
|
|
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser)
|
rs746274670
|
|
NM_000274.4(OAT):c.899C>T (p.Pro300Leu)
|
rs759979499
|
|
NM_000274.4(OAT):c.980C>G (p.Pro327Arg)
|
rs1589698958
|
|
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala)
|
rs1602783564
|
|
NM_000283.4(PDE6B):c.1832+1G>T
|
rs370758397
|
|
NM_000539.3(RHO):c.328T>G (p.Cys110Gly)
|
rs1578278438
|
|
NM_000554.6(CRX):c.898T>C (p.Ter300Gln)
|
rs1599992745
|
|
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)
|
rs796051938
|
|
NM_000883.4(IMPDH1):c.1642G>A (p.Gly548Ser)
|
rs1312955440
|
|
NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter)
|
rs1572829010
|
|
NM_001034853.2(RPGR):c.983del (p.Gly328fs)
|
rs1555965107
|
|
NM_001142800.2(EYS):c.5243T>A (p.Leu1748Ter)
|
rs1582928662
|
|
NM_001142800.2(EYS):c.6461C>G (p.Ser2154Cys)
|
rs1771988273
|
|
NM_001142800.2(EYS):c.875_890delinsTTTCT (p.Glu292fs)
|
rs1582249186
|
|
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs)
|
rs1554163919
|
|
NM_001142800.2(EYS):c.8830del (p.Val2944fs)
|
rs776526721
|
|
NM_001142800.2(EYS):c.8993T>C (p.Met2998Thr)
|
rs768837125
|
|
NM_001142800.2(EYS):c.9181A>T (p.Asn3061Tyr)
|
rs1561993477
|
|
NM_001271.4(CHD2):c.532A>G (p.Arg178Gly)
|
rs1596390679
|
|
NM_003060.4(SLC22A5):c.614T>G (p.Met205Arg)
|
rs796052033
|
|
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg)
|
rs1466787789
|
|
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs)
|
rs1603215223
|
|
NM_005802.5(TOPORS):c.2319_2320delinsCG (p.Ser774Gly)
|
rs1563983313
|
|
NM_006269.2(RP1):c.5105_5109del (p.Asp1702fs)
|
rs1278053918
|
|
NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter)
|
rs1585569717
|
|
NM_006343.3(MERTK):c.2486+1G>A
|
rs1309140887
|
|
NM_006343.3(MERTK):c.692G>C (p.Trp231Ser)
|
rs1573592033
|
|
NM_006915.3(RP2):c.758del (p.Leu253fs)
|
rs1602347992
|
|
NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu)
|
rs761628767
|
|
NM_014270.5(SLC7A9):c.411T>G (p.Cys137Trp)
|
rs12150890
|
|
NM_014270.5(SLC7A9):c.968C>T (p.Thr323Ile)
|
rs1968692991
|
|
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly)
|
rs554196965
|
|
NM_014714.4(IFT140):c.3070G>T (p.Glu1024Ter)
|
rs777889289
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015629.4(PRPF31):c.1007C>G (p.Pro336Arg)
|
rs1555794210
|
|
NM_015629.4(PRPF31):c.1110_1117del (p.Ile371fs)
|
rs1600356790
|
|
NM_015629.4(PRPF31):c.140C>A (p.Ser47Ter)
|
rs2073703461
|
|
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs)
|
rs1555793828
|
|
NM_016247.4(IMPG2):c.1826del (p.Val609fs)
|
rs1553681433
|
|
NM_016247.4(IMPG2):c.85+2T>A
|
rs1553687118
|
|
NM_016373.4(WWOX):c.606-1G>A
|
rs730882215
|
|
NM_022132.5(MCCC2):c.72C>G (p.His24Gln)
|
rs374686220
|
|
NM_030943.4(AMN):c.742C>T (p.Gln248Ter)
|
rs386834177
|
|
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln)
|
rs749758687
|
|
NM_183050.4(BCKDHB):c.1090G>A (p.Asp364Asn)
|
rs1060499715
|
|
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn)
|
rs398124575
|
|
NM_201548.5(CERKL):c.677+547G>A
|
rs1044562973
|
|
NM_206933.4(USH2A):c.10388-1G>C
|
rs1553261478
|
|
NM_206933.4(USH2A):c.13019G>T (p.Gly4340Val)
|
rs1419157426
|
|
NM_206933.4(USH2A):c.2195G>T (p.Gly732Val)
|
rs1360258103
|
|
NM_206933.4(USH2A):c.409dup (p.Ser137fs)
|
rs1571805164
|
|
NM_206933.4(USH2A):c.667dup (p.Ile223fs)
|
rs1553253747
|
|
NM_206933.4(USH2A):c.8558+5G>A
|
rs746331566
|
|