NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)
|
rs758217005
|
0.00012
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)
|
rs62653015
|
0.00001
|
NM_001023570.4(IQCB1):c.812del (p.Ser271fs)
|
rs748559081
|
0.00001
|
NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg)
|
rs2037381055
|
0.00001
|
NM_022124.6(CDH23):c.4105-2A>T
|
rs1416386069
|
0.00001
|
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)
|
rs775710800
|
0.00001
|
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser)
|
rs142593414
|
0.00001
|
NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs)
|
rs1057519225
|
|
NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg)
|
rs1954240719
|
|
NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro)
|
rs782396605
|
|
NM_000260.4(MYO7A):c.4852+1G>A
|
rs1956938352
|
|
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)
|
rs1064797304
|
|
NM_001278293.3(ARL6):c.528G>T (p.Trp176Cys)
|
rs2037751886
|
|
NM_001312673.2(PCYT1A):c.471C>G (p.Phe157Leu)
|
rs1577358031
|
|
NM_001378454.1(ALMS1):c.10146dup (p.Ser3383fs)
|
rs1553416872
|
|
NM_001378454.1(ALMS1):c.7132C>T (p.Leu2378Phe)
|
rs768751472
|
|
NM_001378454.1(ALMS1):c.7786C>T (p.Gln2596Ter)
|
rs1672934629
|
|
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp)
|
rs748210823
|
|
NM_014336.5(AIPL1):c.34dup (p.Val12fs)
|
rs752193525
|
|
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)
|
rs61751266
|
|
NM_020366.4(RPGRIP1):c.2368-2A>G
|
rs1064797182
|
|
NM_022124.6(CDH23):c.6449del (p.Gly2150fs)
|
rs1564796673
|
|
NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser)
|
rs1362644811
|
|
NM_022124.6(CDH23):c.9077+1G>A
|
rs1841885880
|
|
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs)
|
rs1564808024
|
|
NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr)
|
rs1641970512
|
|
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs)
|
rs1951757988
|
|
NM_024685.4(BBS10):c.578T>C (p.Leu193Ser)
|
rs1951767864
|
|
NM_025114.4(CEP290):c.102+1G>T
|
rs2040637111
|
|
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)
|
rs886042360
|
|
NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter)
|
rs1561740143
|
|
NM_032119.4(ADGRV1):c.2241-2A>G
|
rs929034631
|
|
NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs)
|
rs1767988429
|
|
NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter)
|
rs2065331681
|
|
NM_153676.4(USH1C):c.263del (p.Val88fs)
|
rs1850961650
|
|
NM_153676.4(USH1C):c.580-2A>T
|
rs1850678559
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_173477.5(USH1G):c.208_209insTC (p.His70fs)
|
rs1555627787
|
|
NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter)
|
rs772794324
|
|
NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro)
|
rs114630940
|
|
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu)
|
rs1064797128
|
|
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)
|
rs1657996197
|
|
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter)
|
rs1657965422
|
|
NM_206933.4(USH2A):c.12892T>A (p.Tyr4298Asn)
|
rs1064797130
|
|
NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del)
|
rs1657799383
|
|
NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser)
|
rs1064797129
|
|
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
|
rs754834155
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer)
|
rs1571701069
|
|
NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter)
|
rs2036152207
|
|
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)
|
rs1064797138
|
|
NM_206933.4(USH2A):c.3381del (p.Thr1128fs)
|
rs2034948574
|
|
NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs)
|
rs2034850724
|
|
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter)
|
rs2034849647
|
|
NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg)
|
rs1553312493
|
|
NM_206933.4(USH2A):c.575A>C (p.Asn192Thr)
|
rs2039616380
|
|
NM_206933.4(USH2A):c.5777-2A>C
|
rs1064797136
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)
|
rs2030619513
|
|
NM_206933.4(USH2A):c.668T>C (p.Ile223Thr)
|
rs2038569132
|
|
NM_206933.4(USH2A):c.7027del (p.Arg2343fs)
|
rs1667316878
|
|
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter)
|
rs1662772955
|
|