NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)
|
rs62653011
|
0.00008
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)
|
rs767068756
|
0.00005
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)
|
rs200649783
|
0.00003
|
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)
|
rs61752896
|
0.00002
|
NM_022124.6(CDH23):c.1515-12G>A
|
rs369396703
|
0.00002
|
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)
|
rs750889782
|
0.00001
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr)
|
rs1012947103
|
0.00001
|
NM_022124.6(CDH23):c.3428dup (p.His1143fs)
|
rs1253419936
|
0.00001
|
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)
|
rs121917778
|
0.00001
|
NM_152384.3(BBS5):c.209-2A>G
|
rs1477098739
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)
|
rs1395763356
|
|
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)
|
rs750962965
|
|
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)
|
rs745340459
|
|
NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter)
|
rs1560449207
|
|
NM_006017.3(PROM1):c.1983+5G>T
|
rs1560421595
|
|
NM_006915.3(RP2):c.486_490del (p.Gly163fs)
|
rs1569531639
|
|
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs)
|
rs574936510
|
|
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)
|
rs775796581
|
|
NM_019098.5(CNGB3):c.991-3T>G
|
rs773372519
|
|
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)
|
rs765513105
|
|
NM_020779.4(WDR35):c.3363-29_3363-18del
|
rs1270558293
|
|
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter)
|
rs1564796487
|
|
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter)
|
rs1565289799
|
|
NM_032119.4(ADGRV1):c.4108T>G (p.Phe1370Val)
|
rs1561464218
|
|
NM_152384.3(BBS5):c.258+2T>C
|
rs1559122157
|
|
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
|
|
|
NM_206933.2(USH2A):c.[2299del;4714C>T]
|
|
|
NM_206933.4(USH2A):c.1808G>A (p.Gly603Glu)
|
rs1427232199
|
|
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)
|
rs1558151555
|
|