NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala)
|
rs141671082
|
0.00327
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe)
|
rs111033333
|
0.00063
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
|
rs570277510
|
0.00026
|
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)
|
rs200981928
|
0.00025
|
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His)
|
rs189729452
|
0.00019
|
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)
|
rs142617606
|
0.00016
|
NM_206933.4(USH2A):c.8552A>C (p.Asn2851Thr)
|
rs577389392
|
0.00016
|
NM_206933.4(USH2A):c.9037G>A (p.Ala3013Thr)
|
rs149813671
|
0.00016
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00016
|
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val)
|
rs201808654
|
0.00013
|
NM_206933.4(USH2A):c.4587A>C (p.Lys1529Asn)
|
rs756423843
|
0.00013
|
NM_206933.4(USH2A):c.3941A>G (p.Glu1314Gly)
|
rs77797012
|
0.00012
|
NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser)
|
rs371987720
|
0.00010
|
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser)
|
rs143898511
|
0.00010
|
NM_206933.4(USH2A):c.4046C>T (p.Ser1349Phe)
|
rs145148501
|
0.00010
|
NM_206933.4(USH2A):c.7168G>A (p.Gly2390Arg)
|
rs376983577
|
0.00008
|
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys)
|
rs371685066
|
0.00008
|
NM_206933.4(USH2A):c.8096G>A (p.Arg2699Gln)
|
rs748137104
|
0.00008
|
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu)
|
rs150900847
|
0.00006
|
NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly)
|
rs753823008
|
0.00006
|
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp)
|
rs370127889
|
0.00006
|
NM_206933.4(USH2A):c.5789G>A (p.Arg1930Gln)
|
rs200348779
|
0.00006
|
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val)
|
rs773405046
|
0.00006
|
NM_206933.4(USH2A):c.10487A>C (p.Glu3496Ala)
|
rs142594852
|
0.00005
|
NM_206933.4(USH2A):c.1816G>C (p.Asp606His)
|
rs111033410
|
0.00005
|
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)
|
rs200276882
|
0.00005
|
NM_206933.4(USH2A):c.10116T>A (p.Asn3372Lys)
|
rs202172477
|
0.00004
|
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
|
rs149807281
|
0.00004
|
NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val)
|
rs753175395
|
0.00004
|
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala)
|
rs557642490
|
0.00004
|
NM_206933.4(USH2A):c.5410A>G (p.Ile1804Val)
|
rs201804063
|
0.00004
|
NM_206933.4(USH2A):c.6397T>C (p.Trp2133Arg)
|
rs370643158
|
0.00004
|
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)
|
rs760977747
|
0.00004
|
NM_206933.4(USH2A):c.3800C>T (p.Ala1267Val)
|
rs768141777
|
0.00003
|
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)
|
rs781668118
|
0.00003
|
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg)
|
rs370430107
|
0.00003
|
NM_206933.4(USH2A):c.5842C>T (p.Arg1948Cys)
|
rs145647517
|
0.00003
|
NM_206933.4(USH2A):c.9291A>C (p.Lys3097Asn)
|
rs143872133
|
0.00003
|
NM_206933.4(USH2A):c.9583G>A (p.Gly3195Arg)
|
rs149027999
|
0.00003
|
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly)
|
rs769233119
|
0.00003
|
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala)
|
rs754979740
|
0.00002
|
NM_206933.4(USH2A):c.12128T>G (p.Val4043Gly)
|
rs376528829
|
0.00002
|
NM_206933.4(USH2A):c.1510C>A (p.His504Asn)
|
rs533024548
|
0.00002
|
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg)
|
rs375744536
|
0.00002
|
NM_206933.4(USH2A):c.8486T>C (p.Val2829Ala)
|
rs759063087
|
0.00002
|
NM_206933.4(USH2A):c.10423A>G (p.Arg3475Gly)
|
rs141098637
|
0.00001
|
NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile)
|
rs763125604
|
0.00001
|
NM_206933.4(USH2A):c.11089A>G (p.Thr3697Ala)
|
rs765454203
|
0.00001
|
NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met)
|
rs200521328
|
0.00001
|
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys)
|
rs141943290
|
0.00001
|
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met)
|
rs727504686
|
0.00001
|
NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys)
|
rs759899869
|
0.00001
|
NM_206933.4(USH2A):c.2972G>A (p.Gly991Glu)
|
rs779811357
|
0.00001
|
NM_206933.4(USH2A):c.3310C>A (p.Pro1104Thr)
|
rs751890894
|
0.00001
|
NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu)
|
rs780574336
|
0.00001
|
NM_206933.4(USH2A):c.5041A>G (p.Asn1681Asp)
|
rs746010533
|
0.00001
|
NM_206933.4(USH2A):c.5059A>C (p.Ile1687Leu)
|
rs144213699
|
0.00001
|
NM_206933.4(USH2A):c.5189A>G (p.Tyr1730Cys)
|
rs375519871
|
0.00001
|
NM_206933.4(USH2A):c.553A>G (p.Met185Val)
|
rs770266757
|
0.00001
|
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys)
|
rs777886737
|
0.00001
|
NM_206933.4(USH2A):c.6667G>A (p.Gly2223Ser)
|
rs1047559421
|
0.00001
|
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys)
|
rs774634733
|
0.00001
|
NM_206933.4(USH2A):c.6889G>T (p.Ala2297Ser)
|
rs150634036
|
0.00001
|
NM_206933.4(USH2A):c.6968G>A (p.Arg2323Gln)
|
rs772014718
|
0.00001
|
NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser)
|
rs768579751
|
0.00001
|
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp)
|
rs766298464
|
0.00001
|
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)
|
rs141672841
|
0.00001
|
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu)
|
rs746870063
|
|
NM_206933.4(USH2A):c.10030T>C (p.Ser3344Pro)
|
|
|
NM_206933.4(USH2A):c.10162T>C (p.Ser3388Pro)
|
|
|
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys)
|
rs757682417
|
|
NM_206933.4(USH2A):c.10240G>A (p.Gly3414Ser)
|
|
|
NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp)
|
rs1558097546
|
|
NM_206933.4(USH2A):c.10403C>T (p.Pro3468Leu)
|
rs1553261476
|
|
NM_206933.4(USH2A):c.10904C>G (p.Thr3635Ser)
|
|
|
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn)
|
rs2102742330
|
|
NM_206933.4(USH2A):c.11360A>C (p.Tyr3787Ser)
|
|
|
NM_206933.4(USH2A):c.11372T>G (p.Val3791Gly)
|
|
|
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val)
|
rs1553257673
|
|
NM_206933.4(USH2A):c.11846G>T (p.Gly3949Val)
|
|
|
NM_206933.4(USH2A):c.11996G>A (p.Arg3999His)
|
|
|
NM_206933.4(USH2A):c.12050A>G (p.His4017Arg)
|
|
|
NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)
|
|
|
NM_206933.4(USH2A):c.1213A>G (p.Asn405Asp)
|
|
|
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)
|
|
|
NM_206933.4(USH2A):c.12214T>C (p.Phe4072Leu)
|
|
|
NM_206933.4(USH2A):c.13120G>A (p.Val4374Ile)
|
|
|
NM_206933.4(USH2A):c.13198G>A (p.Ala4400Thr)
|
|
|
NM_206933.4(USH2A):c.13278T>A (p.Asn4426Lys)
|
|
|
NM_206933.4(USH2A):c.13352C>T (p.Thr4451Ile)
|
|
|
NM_206933.4(USH2A):c.1349G>T (p.Gly450Val)
|
|
|
NM_206933.4(USH2A):c.13529C>A (p.Thr4510Asn)
|
|
|
NM_206933.4(USH2A):c.13660C>T (p.Pro4554Ser)
|
|
|
NM_206933.4(USH2A):c.13814A>G (p.Tyr4605Cys)
|
|
|
NM_206933.4(USH2A):c.14210G>T (p.Gly4737Val)
|
|
|
NM_206933.4(USH2A):c.14232T>A (p.His4744Gln)
|
|
|
NM_206933.4(USH2A):c.14261A>C (p.Asn4754Thr)
|
|
|
NM_206933.4(USH2A):c.14269G>A (p.Ala4757Thr)
|
|
|
NM_206933.4(USH2A):c.14275G>A (p.Gly4759Arg)
|
|
|
NM_206933.4(USH2A):c.14293G>A (p.Val4765Ile)
|
|
|
NM_206933.4(USH2A):c.14322C>A (p.Ser4774Arg)
|
|
|
NM_206933.4(USH2A):c.14533G>A (p.Ala4845Thr)
|
|
|
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)
|
rs1553250072
|
|
NM_206933.4(USH2A):c.14699A>G (p.Gln4900Arg)
|
|
|
NM_206933.4(USH2A):c.14767A>G (p.Ile4923Val)
|
|
|
NM_206933.4(USH2A):c.14866C>T (p.Leu4956Phe)
|
|
|
NM_206933.4(USH2A):c.14912G>A (p.Arg4971Gln)
|
|
|
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)
|
|
|
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)
|
|
|
NM_206933.4(USH2A):c.15559T>A (p.Phe5187Ile)
|
|
|
NM_206933.4(USH2A):c.15583A>G (p.Thr5195Ala)
|
|
|
NM_206933.4(USH2A):c.1786G>A (p.Glu596Lys)
|
|
|
NM_206933.4(USH2A):c.1820A>T (p.Asp607Val)
|
|
|
NM_206933.4(USH2A):c.2161G>A (p.Val721Ile)
|
|
|
NM_206933.4(USH2A):c.2942G>A (p.Arg981His)
|
|
|
NM_206933.4(USH2A):c.3026C>G (p.Ala1009Gly)
|
|
|
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val)
|
rs150729680
|
|
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser)
|
rs1396798963
|
|
NM_206933.4(USH2A):c.335A>G (p.Asp112Gly)
|
|
|
NM_206933.4(USH2A):c.349C>T (p.His117Tyr)
|
|
|
NM_206933.4(USH2A):c.3638T>C (p.Phe1213Ser)
|
|
|
NM_206933.4(USH2A):c.3680G>C (p.Gly1227Ala)
|
|
|
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val)
|
|
|
NM_206933.4(USH2A):c.3901G>A (p.Gly1301Ser)
|
|
|
NM_206933.4(USH2A):c.3973A>G (p.Thr1325Ala)
|
|
|
NM_206933.4(USH2A):c.4014A>T (p.Arg1338Ser)
|
|
|
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe)
|
|
|
NM_206933.4(USH2A):c.4739A>G (p.Tyr1580Cys)
|
|
|
NM_206933.4(USH2A):c.5075A>C (p.Asp1692Ala)
|
|
|
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser)
|
|
|
NM_206933.4(USH2A):c.5324C>A (p.Thr1775Asn)
|
|
|
NM_206933.4(USH2A):c.5532G>T (p.Gln1844His)
|
|
|
NM_206933.4(USH2A):c.5730G>C (p.Gln1910His)
|
|
|
NM_206933.4(USH2A):c.5876C>T (p.Thr1959Ile)
|
|
|
NM_206933.4(USH2A):c.5891G>A (p.Arg1964His)
|
rs149465057
|
|
NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val)
|
|
|
NM_206933.4(USH2A):c.6313T>C (p.Tyr2105His)
|
|
|
NM_206933.4(USH2A):c.6509G>A (p.Ser2170Asn)
|
|
|
NM_206933.4(USH2A):c.650A>C (p.Gln217Pro)
|
|
|
NM_206933.4(USH2A):c.6584A>G (p.Asn2195Ser)
|
|
|
NM_206933.4(USH2A):c.6598T>C (p.Phe2200Leu)
|
|
|
NM_206933.4(USH2A):c.6765C>A (p.Asp2255Glu)
|
|
|
NM_206933.4(USH2A):c.7292C>A (p.Pro2431His)
|
|
|
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe)
|
rs1665475399
|
|
NM_206933.4(USH2A):c.7448T>G (p.Leu2483Arg)
|
|
|
NM_206933.4(USH2A):c.7471G>T (p.Ala2491Ser)
|
|
|
NM_206933.4(USH2A):c.7472C>A (p.Ala2491Glu)
|
|
|
NM_206933.4(USH2A):c.7472C>T (p.Ala2491Val)
|
|
|
NM_206933.4(USH2A):c.7492A>C (p.Ser2498Arg)
|
|
|
NM_206933.4(USH2A):c.7697A>G (p.Tyr2566Cys)
|
|
|
NM_206933.4(USH2A):c.7861C>G (p.Pro2621Ala)
|
|
|
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val)
|
|
|
NM_206933.4(USH2A):c.8344C>T (p.His2782Tyr)
|
|
|
NM_206933.4(USH2A):c.8495T>C (p.Leu2832Pro)
|
|
|
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)
|
|
|
NM_206933.4(USH2A):c.868T>G (p.Ser290Ala)
|
|
|
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu)
|
|
|
NM_206933.4(USH2A):c.8789A>T (p.Asn2930Ile)
|
|
|
NM_206933.4(USH2A):c.8854G>T (p.Asp2952Tyr)
|
|
|
NM_206933.4(USH2A):c.8905T>A (p.Ser2969Thr)
|
|
|
NM_206933.4(USH2A):c.8908A>C (p.Asn2970His)
|
|
|
NM_206933.4(USH2A):c.9055+1del
|
rs1553268563
|
|
NM_206933.4(USH2A):c.9181C>A (p.Leu3061Ile)
|
|
|
NM_206933.4(USH2A):c.9275T>C (p.Ile3092Thr)
|
|
|
NM_206933.4(USH2A):c.92C>T (p.Thr31Ile)
|
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_206933.4(USH2A):c.9527C>A (p.Pro3176His)
|
|
|
NM_206933.4(USH2A):c.9745G>C (p.Val3249Leu)
|
|
|
NM_206933.4(USH2A):c.9762A>C (p.Glu3254Asp)
|
|
|
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)
|
|
|