NM_000350.3(ABCA4):c.4253+43G>A
|
rs61754045
|
0.00486
|
NM_002905.5(RDH5):c.839G>A (p.Arg280His)
|
rs62638193
|
0.00011
|
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)
|
rs61748521
|
0.00003
|
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp)
|
rs121965053
|
0.00001
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.14134-3169A>G
|
rs998302546
|
0.00001
|
NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys)
|
rs756570931
|
0.00001
|
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser)
|
rs748465849
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NM_000260.4(MYO7A):c.1929dup (p.Pro644fs)
|
|
|
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)
|
rs751769391
|
|
NM_000283.4(PDE6B):c.1568T>G (p.Met523Arg)
|
|
|
NM_000322.5(PRPH2):c.695C>T (p.Ala232Val)
|
rs1800113364
|
|
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp)
|
rs61748432
|
|
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)
|
rs1553152989
|
|
NM_000330.4(RS1):c.419G>A (p.Gly140Glu)
|
rs61752157
|
|
NM_000350.3(ABCA4):c.2T>C (p.Met1Thr)
|
|
|
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro)
|
rs61750642
|
|
NM_000390.4(CHM):c.1168_1244+1del
|
|
|
NM_000440.3(PDE6A):c.2327del (p.Phe776fs)
|
|
|
NM_001017979.3(RAB28):c.299G>A (p.Ser100Asn)
|
rs1715552187
|
|
NM_001017979.3(RAB28):c.430C>T (p.His144Tyr)
|
|
|
NM_001034853.2(RPGR):c.2064del (p.Arg688fs)
|
|
|
NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)
|
|
|
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter)
|
rs865977487
|
|
NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs)
|
|
|
NM_001077620.3(PRCD):c.102_111dup (p.Ser38Ter)
|
|
|
NM_001142800.2(EYS):c.4100C>A (p.Ser1367Ter)
|
|
|
NM_001142800.2(EYS):c.7228G>A (p.Ala2410Thr)
|
|
|
NM_001142800.2:c.6425-7585_7056-7439dup
|
|
|
NM_001201543.2(FAM161A):c.1420del (p.Ala474fs)
|
|
|
NM_001256789.3(CACNA1F):c.2953del (p.Ala985fs)
|
|
|
NM_001297.5(CNGB1):c.2567_2568del (p.Leu855_Phe856insTer)
|
|
|
NM_001297.5:c.1536-3071_2634+31dup
|
|
|
NM_001298.3(CNGA3):c.1073G>C (p.Trp358Ser)
|
|
|
NM_001298.3(CNGA3):c.910G>C (p.Gly304Arg)
|
|
|
NM_001349884.2(DRAM2):c.517+5C>A
|
|
|
NM_001384910.1(GUCA1A):c.442G>C (p.Asp148His)
|
|
|
NM_001563.4(IMPG1):c.1876C>T (p.Leu626Phe)
|
rs1051579797
|
|
NM_003322.6(TULP1):c.415dup (p.Ile139fs)
|
|
|
NM_006017.3(PROM1):c.2267G>A (p.Trp756Ter)
|
|
|
NM_006343.3(MERTK):c.2209G>T (p.Val737Phe)
|
|
|
NM_006915.3(RP2):c.225del (p.Phe75fs)
|
|
|
NM_006915.3(RP2):c.276_277delinsA (p.Phe92fs)
|
|
|
NM_014249.4(NR2E3):c.316AAG[1] (p.Lys107del)
|
|
|
NM_015072.5(TTLL5):c.2412_2420delinsAATTTTTT (p.Thr805fs)
|
|
|
NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)
|
|
|
NM_020366.4(RPGRIP1):c.2367+23del
|
rs781728563
|
|
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)
|
rs779010679
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)
|
|
|
NM_206933.4(USH2A):c.9315del (p.Val3106fs)
|
|
|