|
NM_000180.3(GUCY2D):c.2303G>A (p.Arg768Gln)
|
rs750889782 |
|
NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln)
|
|
|
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)
|
rs62642583 |
|
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)
|
rs1553152989 |
|
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)
|
rs1420672586 |
|
NM_000329.3(RPE65):c.227A>C (p.His76Pro)
|
|
|
NM_000329.3(RPE65):c.361dup (p.Ser121fs)
|
rs121918844 |
|
NM_000329.3(RPE65):c.95-2A>T
|
rs61751279 |
|
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)
|
rs61749423 |
|
NM_000440.3(PDE6A):c.2027+5G>T
|
rs794727166 |
|
NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
|
|
|
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)
|
rs62638214 |
|
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)
|
rs387907009 |
|
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)
|
rs750962965 |
|
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)
|
|
|
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter)
|
rs766143193 |
|
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)
|
|
|
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)
|
rs121918165 |
|
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)
|
rs866395428 |
|
NM_001134831.2(AHI1):c.1912+5G>T
|
rs1554347012 |
|
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile)
|
rs863224884 |
|
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)
|
|
|
NM_003322.6(TULP1):c.1495+2dup
|
|
|
NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter)
|
|
|
NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs)
|
|
|
NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs)
|
|
|
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg)
|
rs121908449 |
|
NM_004928.3(CFAP410):c.643-2A>G
|
|
|
NM_006915.3(RP2):c.102+3A>C
|
rs1556313557 |
|
NM_006915.3(RP2):c.486_490del (p.Gly163fs)
|
rs1569531639 |
|
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs)
|
rs574936510 |
|
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe)
|
|
|
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter)
|
|
|
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro)
|
|
|
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014 |
|
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe)
|
rs751218423 |
|
NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp)
|
rs768028061 |
|
NM_018418.5(SPATA7):c.19G>A (p.Val7Ile)
|
rs371609982 |
|
NM_019098.4(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360 |
|
NM_019098.4(CNGB3):c.819_826del (p.Arg274fs)
|
rs775796581 |
|
NM_019098.4(CNGB3):c.991-3T>G
|
rs773372519 |
|
NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs)
|
rs61751266 |
|
NM_020366.3(RPGRIP1):c.1611G>A (p.Gln537=)
|
rs1064797181 |
|
NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter)
|
rs137853124 |
|
NM_020366.3(RPGRIP1):c.2440C>T (p.Arg814Ter)
|
rs759940113 |
|
NM_020366.3(RPGRIP1):c.2775G>A (p.Trp925Ter)
|
rs398124354 |
|
NM_020366.3(RPGRIP1):c.3339+5G>A
|
rs1057518122 |
|
NM_020366.3(RPGRIP1):c.564A>G (p.Glu188=)
|
rs574462207 |
|
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)
|
rs150726175 |
|
NM_025114.3(CEP290):c.1623+5G>A
|
rs1555222073 |
|
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs)
|
rs727503855 |
|
NM_025114.3(CEP290):c.1910-11T>G
|
rs1555220638 |
|
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152 |
|
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286 |
|
NM_025114.3(CEP290):c.4771C>T (p.Gln1591Ter)
|
rs62640574 |
|
NM_025114.3(CEP290):c.5587-1G>C
|
|
|
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)
|
|
|
NM_033100.4(CDHR1):c.524dup (p.Asn176fs)
|
rs781781440 |
|
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)
|
|
|
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)
|
rs62645754 |
|
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)
|
rs114342808 |
|
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)
|
rs150412614 |
|
NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs)
|
|
|
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)
|
rs62645747 |
|
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)
|
rs62636275 |
|
NM_201253.3(CRB1):c.4005+1G>A
|
|
|
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)
|
rs281865175 |