NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)
|
rs150982499
|
0.00023
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
|
rs387906980
|
0.00003
|
NM_032119.4(ADGRV1):c.2864C>A (p.Ser955Ter)
|
rs746618021
|
0.00003
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)
|
rs752058510
|
0.00001
|
NM_006017.3(PROM1):c.1984-1G>T
|
rs373680665
|
0.00001
|
NM_020366.4(RPGRIP1):c.2895+1G>T
|
rs748072501
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)
|
rs121434337
|
0.00001
|
NM_206933.4(USH2A):c.14134-3169A>G
|
rs998302546
|
0.00001
|
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser)
|
rs748465849
|
0.00001
|
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg)
|
rs768206746
|
|
NM_000260.4(MYO7A):c.1929dup (p.Pro644fs)
|
|
|
NM_000260.4(MYO7A):c.397dup (p.His133fs)
|
rs111033187
|
|
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)
|
rs751769391
|
|
NM_000260.4(MYO7A):c.5510T>A (p.Leu1837His)
|
rs1385324903
|
|
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)
|
rs1553152989
|
|
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs)
|
rs1769904494
|
|
NM_006017.3(PROM1):c.784+1G>A
|
rs745704627
|
|
NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)
|
|
|
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer)
|
rs567890014
|
|
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)
|
rs780667159
|
|
NM_025132.4(WDR19):c.3184-2A>C
|
rs1020915921
|
|
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)
|
rs766631462
|
|
NM_152443.3(RDH12):c.2T>C (p.Met1Thr)
|
|
|
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)
|
rs761167763
|
|
NM_201253.3(CRB1):c.3626_3627del (p.Val1209fs)
|
|
|
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)
|
|
|
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)
|
rs758660532
|
|
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)
|
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.9315del (p.Val3106fs)
|
|
|