NM_000329.3(RPE65):c.*735del
|
rs577675068 |
NM_000329.3(RPE65):c.1243+10T>C
|
rs548537552 |
NM_000554.6(CRX):c.*1621_*1623dup
|
rs59559801 |
NM_000554.6(CRX):c.*435del
|
rs886054551 |
NM_000554.6(CRX):c.*754_*756dup
|
rs60558029 |
NM_000554.6(CRX):c.*756dup
|
rs60558029 |
NM_001009894.3(C12orf29):c.*618_*621TATT[1]
|
rs886049876 |
NM_001122769.3(LCA5):c.*22dup
|
rs767286706 |
NM_001122769.3(LCA5):c.*35del
|
rs747368961 |
NM_001122769.3(LCA5):c.-251G>A
|
rs886061793 |
NM_001164688.1(RD3):c.-166_-165GA[1]
|
rs886045903 |
NM_001164688.1(RD3):c.-336_-335AC[16]
|
rs34485370 |
NM_001164688.1(RD3):c.-336_-335AC[19]
|
rs34485370 |
NM_001164688.1(RD3):c.-336_-335AC[20]
|
rs34485370 |
NM_001164688.1(RD3):c.-336_-335AC[21]
|
rs34485370 |
NM_001164688.1(RD3):c.-336_-335AC[23]
|
rs34485370 |
NM_001164688.1(RD3):c.-336_-335AC[24]
|
rs34485370 |
NM_002242.4(KCNJ13):c.*1482_*1484del
|
rs774385692 |
NM_002242.4(KCNJ13):c.*1742dup
|
rs746052279 |
NM_002242.4(KCNJ13):c.*179_*180CT[1]
|
rs758195599 |
NM_003322.6(TULP1):c.1341G>A (p.Leu447=)
|
rs61734562 |
NM_004744.5(LRAT):c.*1585T>G
|
rs886059168 |
NM_004744.5(LRAT):c.*2418G>A
|
rs886059170 |
NM_004744.5(LRAT):c.*2453C>A
|
rs886059171 |
NM_004744.5(LRAT):c.*2463T>C
|
rs530211304 |
NM_004744.5(LRAT):c.*2467C>G
|
rs886059172 |
NM_004744.5(LRAT):c.*2477_*2479del
|
rs769393659 |
NM_004744.5(LRAT):c.*2529C>T
|
rs185391295 |
NM_004744.5(LRAT):c.*2625A>G
|
rs77071498 |
NM_004744.5(LRAT):c.*2741_*2743dup
|
rs528370871 |
NM_004744.5(LRAT):c.*298_*301del
|
rs886059162 |
NM_004744.5(LRAT):c.*313del
|
rs146990234 |
NM_004744.5(LRAT):c.*3264G>A
|
rs115053323 |
NM_004744.5(LRAT):c.*3435A>C
|
rs886059176 |
NM_004744.5(LRAT):c.*3459dup
|
rs369562633 |
NM_004744.5(LRAT):c.*3712G>C
|
rs144961748 |
NM_004744.5(LRAT):c.*3729del
|
rs886059177 |
NM_004744.5(LRAT):c.*3819T>C
|
rs191600425 |
NM_004744.5(LRAT):c.*3T>G
|
rs200942685 |
NM_004744.5(LRAT):c.*549T>C
|
rs886059165 |
NM_004744.5(LRAT):c.*640T>C
|
rs574458445 |
NM_004744.5(LRAT):c.*98C>T
|
rs529360609 |
NM_004744.5(LRAT):c.-115C>G
|
rs886059159 |
NM_004744.5(LRAT):c.-2+7A>C
|
rs886059161 |
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys)
|
rs775838916 |
NM_004744.5(LRAT):c.258G>A (p.Gly86=)
|
rs768389044 |
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser)
|
rs139819099 |
NM_014336.4(AIPL1):c.-21A>G
|
rs373772674 |
NM_014336.4(AIPL1):c.-52G>T
|
rs377376064 |
NM_014336.4(AIPL1):c.-73A>G
|
rs751249166 |
NM_014336.5(AIPL1):c.*1398G>A
|
rs886053259 |
NM_014336.5(AIPL1):c.*150_*151insCAA
|
rs200523461 |
NM_014336.5(AIPL1):c.*151_*152dup
|
rs77115868 |
NM_014336.5(AIPL1):c.*153_*154del
|
rs886053263 |
NM_014336.5(AIPL1):c.*153_*155del
|
rs886053262 |
NM_014336.5(AIPL1):c.*153del
|
rs886053264 |
NM_014336.5(AIPL1):c.*730dup
|
rs559951043 |
NM_014336.5(AIPL1):c.*887_*891CAAAA[2]
|
rs375369909 |
NM_020366.3(RPGRIP1):c.3748+17dup
|
rs578107768 |
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483 |
NM_025114.4(CEP290):c.3309+2_3309+3dup
|
rs886049881 |
NM_025114.4(CEP290):c.442-11del
|
rs199511358 |
NM_025114.4(CEP290):c.442-22_442-21dup
|
rs199511358 |
NM_025114.4(CEP290):c.442-22dup
|
rs199511358 |
NM_025114.4(CEP290):c.5227-14del
|
rs747878752 |
NM_025114.4(CEP290):c.7209+11_7209+14del
|
rs750259100 |
NM_183059.2(RD3):c.*1305del
|
rs886045896 |
NM_183059.2(RD3):c.*1582del
|
rs879756831 |
NM_183059.2(RD3):c.*1582dup
|
rs879756831 |
NM_183059.2(RD3):c.*1583del
|
rs775682217 |
NM_183059.2(RD3):c.-295_-294del
|
rs1553282313 |
NM_183059.2(RD3):c.-296_-295dup
|
rs1491560139 |
NM_183059.2(RD3):c.-305_-297delinsC
|
rs886045910 |
NM_183059.2(RD3):c.-307_-297delinsC
|
rs886045911 |
NM_183059.2(RD3):c.-340_-339del
|
rs886045915 |
NM_183059.2(RD3):c.-343_-340del
|
rs886045916 |
NM_201253.3(CRB1):c.*331_*337dup
|
rs886045790 |
NM_201253.3(CRB1):c.1172-15T>A
|
rs375141011 |