ClinVar Miner

List of variants in gene USH2A reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1021
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698 0.00201
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_206933.4(USH2A):c.4627+562C>T rs769348449 0.00169
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402 0.00167
NM_206933.4(USH2A):c.4627+1133G>A rs138139294 0.00167
NM_206933.4(USH2A):c.4627+281T>C rs570544314 0.00163
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00146
NM_206933.4(USH2A):c.4627+981T>A rs41277220 0.00135
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877 0.00122
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947 0.00121
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231 0.00120
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919 0.00118
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=) rs143218330 0.00118
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561 0.00107
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508 0.00102
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079 0.00099
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_206933.4(USH2A):c.3157+12C>T rs199853422 0.00088
NM_206933.4(USH2A):c.8559-7G>A rs199618999 0.00085
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00077
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255 0.00073
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=) rs147371835 0.00069
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572 0.00065
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504 0.00065
NM_206933.4(USH2A):c.4627+801C>G rs41277222 0.00064
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_206933.4(USH2A):c.485+12T>C rs201857884 0.00058
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316 0.00056
NM_206933.4(USH2A):c.4627+411A>G rs772732997 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.7301-6C>T rs375499259 0.00054
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_206933.4(USH2A):c.10741-8G>A rs369968349 0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615 0.00047
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala) rs146445078 0.00047
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val) rs137868043 0.00045
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950 0.00043
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr) rs112273610 0.00039
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=) rs146406377 0.00038
NM_206933.4(USH2A):c.4627+561T>C rs566131886 0.00035
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302 0.00033
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144 0.00031
NM_206933.4(USH2A):c.5980G>A (p.Glu1994Lys) rs147023536 0.00031
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg) rs111033402 0.00029
NM_206933.4(USH2A):c.2167+11C>T rs139647897 0.00029
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677 0.00029
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val) rs143352618 0.00028
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu) rs138640647 0.00027
NM_206933.4(USH2A):c.7416G>A (p.Gln2472=) rs145783712 0.00027
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=) rs137963595 0.00026
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00026
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671 0.00026
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys) rs150280500 0.00026
NM_206933.4(USH2A):c.7167C>T (p.Ser2389=) rs200243588 0.00026
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly) rs146569216 0.00025
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala) rs200981928 0.00025
NM_206933.4(USH2A):c.13099G>A (p.Val4367Ile) rs146156360 0.00023
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe) rs375083165 0.00023
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499 0.00023
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450 0.00023
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly) rs147374057 0.00022
NM_206933.4(USH2A):c.7717C>T (p.Arg2573Cys) rs140983855 0.00022
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu) rs200802261 0.00022
NM_206933.4(USH2A):c.1539C>T (p.Thr513=) rs199939890 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile) rs147532612 0.00018
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe) rs368058316 0.00018
NM_206933.4(USH2A):c.9041C>A (p.Thr3014Asn) rs144892841 0.00018
NM_206933.4(USH2A):c.4627+161T>C rs771693146 0.00017
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys) rs142617606 0.00016
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=) rs150406015 0.00016
NM_206933.4(USH2A):c.4627+596A>G rs1036513961 0.00016
NM_206933.4(USH2A):c.4627+851A>G rs779885066 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.9604C>G (p.Pro3202Ala) rs113786363 0.00016
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00016
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser) rs138543813 0.00016
NM_206933.4(USH2A):c.5299-10T>C rs375279569 0.00015
NM_206933.4(USH2A):c.5330G>A (p.Arg1777Gln) rs541275063 0.00015
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578 0.00014
NM_206933.4(USH2A):c.127G>A (p.Val43Met) rs147421006 0.00014
NM_206933.4(USH2A):c.13477C>T (p.Arg4493Cys) rs144543286 0.00014
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu) rs373190681 0.00014
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys) rs200289497 0.00014
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met) rs143319658 0.00014
NM_206933.4(USH2A):c.7291C>T (p.Pro2431Ser) rs148136966 0.00014
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys) rs141452179 0.00014
NM_206933.4(USH2A):c.15117C>T (p.Ser5039=) rs148499621 0.00013
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.4697A>G (p.Gln1566Arg) rs376314751 0.00013
NM_206933.4(USH2A):c.6080A>C (p.Asn2027Thr) rs144112891 0.00013
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) rs111033514 0.00013
NM_206933.4(USH2A):c.7312G>A (p.Val2438Met) rs370988961 0.00013
NM_206933.4(USH2A):c.3941A>G (p.Glu1314Gly) rs77797012 0.00012
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val) rs143523460 0.00012
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=) rs147842359 0.00011
NM_206933.4(USH2A):c.12392C>T (p.Thr4131Ile) rs149647002 0.00011
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588 0.00011
NM_206933.4(USH2A):c.14680G>A (p.Ala4894Thr) rs369778428 0.00011
NM_206933.4(USH2A):c.188G>A (p.Arg63Gln) rs369806765 0.00011
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 0.00011
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu) rs141339026 0.00011
NM_206933.4(USH2A):c.5890C>T (p.Arg1964Cys) rs148049006 0.00011
NM_206933.4(USH2A):c.8179G>T (p.Val2727Leu) rs145399306 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_206933.4(USH2A):c.10585+4T>G rs372667667 0.00010
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.14567A>G (p.Asn4856Ser) rs139799843 0.00010
NM_206933.4(USH2A):c.15306C>T (p.Ala5102=) rs149506333 0.00010
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val) rs727503735 0.00010
NM_206933.4(USH2A):c.4046C>T (p.Ser1349Phe) rs145148501 0.00010
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812 0.00010
NM_206933.4(USH2A):c.7379G>A (p.Arg2460His) rs368681648 0.00010
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240 0.00010
NM_206933.4(USH2A):c.7936C>A (p.Pro2646Thr) rs760777446 0.00010
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307 0.00009
NM_206933.4(USH2A):c.11062C>T (p.Pro3688Ser) rs147214756 0.00009
NM_206933.4(USH2A):c.11923G>A (p.Ala3975Thr) rs372327495 0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_206933.4(USH2A):c.12818A>G (p.Tyr4273Cys) rs777874309 0.00009
NM_206933.4(USH2A):c.1297C>T (p.Pro433Ser) rs139556361 0.00009
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690 0.00009
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn) rs764124390 0.00009
NM_206933.4(USH2A):c.1981C>G (p.Gln661Glu) rs140955723 0.00009
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg) rs367693972 0.00009
NM_206933.4(USH2A):c.3177G>A (p.Pro1059=) rs767648070 0.00009
NM_206933.4(USH2A):c.3226C>T (p.Pro1076Ser) rs139089840 0.00009
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803 0.00009
NM_206933.4(USH2A):c.671G>C (p.Ser224Thr) rs142234324 0.00009
NM_206933.4(USH2A):c.9439T>C (p.Trp3147Arg) rs139649540 0.00009
NM_206933.4(USH2A):c.9614G>A (p.Arg3205His) rs200726531 0.00009
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.11859T>C (p.Ser3953=) rs141941454 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_206933.4(USH2A):c.13406A>G (p.Asn4469Ser) rs796610671 0.00008
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys) rs372966682 0.00008
NM_206933.4(USH2A):c.14926G>A (p.Gly4976Ser) rs200761611 0.00008
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) rs537863698 0.00008
NM_206933.4(USH2A):c.4850C>T (p.Ala1617Val) rs868179223 0.00008
NM_206933.4(USH2A):c.5318T>A (p.Ile1773Lys) rs371201450 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.9772C>T (p.Arg3258Trp) rs750218932 0.00008
NM_206933.4(USH2A):c.1205A>G (p.Lys402Arg) rs768097637 0.00007
NM_206933.4(USH2A):c.14473C>T (p.His4825Tyr) rs1158010100 0.00007
NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln) rs201630132 0.00007
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg) rs199672621 0.00007
NM_206933.4(USH2A):c.191G>A (p.Ser64Asn) rs778199517 0.00007
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr) rs142302070 0.00007
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040 0.00007
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met) rs151057466 0.00007
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His) rs201386640 0.00007
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser) rs752811693 0.00007
NM_206933.4(USH2A):c.10126T>G (p.Tyr3376Asp) rs150617613 0.00006
NM_206933.4(USH2A):c.10388A>G (p.Asp3463Gly) rs146014881 0.00006
NM_206933.4(USH2A):c.10451G>A (p.Arg3484Gln) rs771999994 0.00006
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.11230A>G (p.Arg3744Gly) rs1426369789 0.00006
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371 0.00006
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys) rs727503718 0.00006
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.13490T>A (p.Phe4497Tyr) rs145719886 0.00006
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg) rs148674752 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile) rs138694314 0.00006
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp) rs370127889 0.00006
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met) rs375429745 0.00006
NM_206933.4(USH2A):c.15355C>T (p.Arg5119Trp) rs767137840 0.00006
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val) rs111033419 0.00006
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn) rs567937233 0.00006
NM_206933.4(USH2A):c.1A>G (p.Met1Val) rs924627806 0.00006
NM_206933.4(USH2A):c.4627+510G>A rs941646674 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.586C>T (p.Pro196Ser) rs756041909 0.00006
NM_206933.4(USH2A):c.60G>T (p.Leu20Phe) rs767611127 0.00006
NM_206933.4(USH2A):c.6344C>T (p.Pro2115Leu) rs373034742 0.00006
NM_206933.4(USH2A):c.6563C>A (p.Thr2188Lys) rs374409616 0.00006
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys) rs375278546 0.00006
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=) rs141917231 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu) rs147333637 0.00006
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266 0.00006
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys) rs754774098 0.00006
NM_206933.4(USH2A):c.9356G>A (p.Arg3119His) rs199885325 0.00006
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys) rs200696560 0.00006
NM_206933.4(USH2A):c.10426A>C (p.Ile3476Leu) rs1038876830 0.00005
NM_206933.4(USH2A):c.11443A>G (p.Ser3815Gly) rs149527139 0.00005
NM_206933.4(USH2A):c.11821C>T (p.Arg3941Trp) rs749942414 0.00005
NM_206933.4(USH2A):c.1346G>A (p.Arg449His) rs766715882 0.00005
NM_206933.4(USH2A):c.14073C>T (p.Asn4691=) rs370364142 0.00005
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527 0.00005
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met) rs201847741 0.00005
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val) rs753594462 0.00005
NM_206933.4(USH2A):c.15249G>C (p.Gln5083His) rs768977235 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.4627+10T>C rs148657311 0.00005
NM_206933.4(USH2A):c.4627+610G>A rs886045947 0.00005
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp) rs201281141 0.00005
NM_206933.4(USH2A):c.7540A>C (p.Asn2514His) rs777618162 0.00005
NM_206933.4(USH2A):c.7839G>T (p.Glu2613Asp) rs568902534 0.00005
NM_206933.4(USH2A):c.8631C>G (p.His2877Gln) rs954532372 0.00005
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile) rs142649882 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_206933.4(USH2A):c.9201T>C (p.Asn3067=) rs764236480 0.00005
NM_206933.4(USH2A):c.9286G>A (p.Val3096Met) rs147267500 0.00005
NM_206933.4(USH2A):c.9460G>A (p.Ala3154Thr) rs150266899 0.00005
NM_206933.4(USH2A):c.-305C>G rs1430551833 0.00004
NM_206933.4(USH2A):c.-355C>G rs868097748 0.00004
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166 0.00004
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met) rs185823130 0.00004
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile) rs201951918 0.00004
NM_206933.4(USH2A):c.11435A>G (p.Asn3812Ser) rs776876392 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170 0.00004
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His) rs775075094 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.126C>T (p.Asn42=) rs774473277 0.00004
NM_206933.4(USH2A):c.13159A>G (p.Thr4387Ala) rs755416914 0.00004
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His) rs550096037 0.00004
NM_206933.4(USH2A):c.13812-5T>C rs371583628 0.00004
NM_206933.4(USH2A):c.1388A>G (p.Tyr463Cys) rs139997881 0.00004
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro) rs149807281 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_206933.4(USH2A):c.14761G>A (p.Glu4921Lys) rs754834155 0.00004
NM_206933.4(USH2A):c.15089C>T (p.Ser5030Leu) rs758660532 0.00004
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu) rs727503714 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val) rs753175395 0.00004
NM_206933.4(USH2A):c.15432C>T (p.Ser5144=) rs145362017 0.00004
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys) rs570446209 0.00004
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=) rs766038321 0.00004
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln) rs192524347 0.00004
NM_206933.4(USH2A):c.2135del (p.Asn711_Ser712insTer) rs1238314101 0.00004
NM_206933.4(USH2A):c.2167+15A>G rs779599960 0.00004
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala) rs557642490 0.00004
NM_206933.4(USH2A):c.3780T>C (p.His1260=) rs759937489 0.00004
NM_206933.4(USH2A):c.3937A>G (p.Asn1313Asp) rs540537272 0.00004
NM_206933.4(USH2A):c.4304A>C (p.Lys1435Thr) rs752059469 0.00004
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His) rs770394440 0.00004
NM_206933.4(USH2A):c.5410A>G (p.Ile1804Val) rs201804063 0.00004
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) rs201026468 0.00004
NM_206933.4(USH2A):c.6372A>T (p.Thr2124=) rs548332655 0.00004
NM_206933.4(USH2A):c.6397T>C (p.Trp2133Arg) rs370643158 0.00004
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu) rs143107117 0.00004
NM_206933.4(USH2A):c.723T>C (p.Thr241=) rs571744403 0.00004
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747 0.00004
NM_206933.4(USH2A):c.7537T>G (p.Ser2513Ala) rs375987841 0.00004
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys) rs777682016 0.00004
NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp) rs141134147 0.00004
NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys) rs531822235 0.00004
NM_206933.4(USH2A):c.8234A>G (p.Lys2745Arg) rs753212183 0.00004
NM_206933.4(USH2A):c.8893A>G (p.Ser2965Gly) rs373107700 0.00004
NM_206933.4(USH2A):c.8935G>A (p.Val2979Ile) rs769479181 0.00004
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu) rs397518044 0.00004
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His) rs1380261595 0.00004
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr) rs758614136 0.00004
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro) rs368986242 0.00004
NM_206933.4(USH2A):c.10189A>G (p.Lys3397Glu) rs777959748 0.00003
NM_206933.4(USH2A):c.10208G>A (p.Cys3403Tyr) rs202009522 0.00003
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg) rs375485721 0.00003
NM_206933.4(USH2A):c.10387+5C>G rs746536041 0.00003
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln) rs375978706 0.00003
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys) rs397517969 0.00003
NM_206933.4(USH2A):c.11414T>C (p.Val3805Ala) rs760024584 0.00003
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met) rs564240175 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
NM_206933.4(USH2A):c.13250A>G (p.Tyr4417Cys) rs794727826 0.00003
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser) rs141696914 0.00003
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu) rs765354805 0.00003
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val) rs376077079 0.00003
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) rs746837034 0.00003
NM_206933.4(USH2A):c.15499A>G (p.Met5167Val) rs755573653 0.00003
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro) rs201332729 0.00003
NM_206933.4(USH2A):c.1652G>A (p.Arg551His) rs746477843 0.00003
NM_206933.4(USH2A):c.3575G>A (p.Gly1192Asp) rs370882987 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
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.4096A>T (p.Ile1366Phe) rs779530910 0.00003
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg) rs370430107 0.00003
NM_206933.4(USH2A):c.4627+686T>A rs977631162 0.00003
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu) rs771088957 0.00003
NM_206933.4(USH2A):c.5842C>T (p.Arg1948Cys) rs145647517 0.00003
NM_206933.4(USH2A):c.5941A>G (p.Arg1981Gly) rs775877218 0.00003
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe) rs370597096 0.00003
NM_206933.4(USH2A):c.7027C>T (p.Arg2343Trp) rs149606872 0.00003
NM_206933.4(USH2A):c.7451+3G>A rs397518030 0.00003
NM_206933.4(USH2A):c.8176G>A (p.Gly2726Arg) rs1048653046 0.00003
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721 0.00003
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val) rs527689947 0.00003
NM_206933.4(USH2A):c.9291A>C (p.Lys3097Asn) rs143872133 0.00003
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys) rs576236830 0.00003
NM_206933.4(USH2A):c.9583G>A (p.Gly3195Arg) rs149027999 0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00003
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly) rs769233119 0.00003
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) rs758303489 0.00002
NM_206933.4(USH2A):c.10145T>G (p.Val3382Gly) rs1198689866 0.00002
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met) rs397517966 0.00002
NM_206933.4(USH2A):c.10613G>A (p.Arg3538Gln) rs774844491 0.00002
NM_206933.4(USH2A):c.10633C>T (p.Arg3545Trp) rs145718329 0.00002
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser) rs778158900 0.00002
NM_206933.4(USH2A):c.10969A>G (p.Thr3657Ala) rs747966256 0.00002
NM_206933.4(USH2A):c.11007C>T (p.Ser3669=) rs752000364 0.00002
NM_206933.4(USH2A):c.11103T>C (p.Tyr3701=) rs143453173 0.00002
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro) rs201961789 0.00002
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His) rs201709470 0.00002
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.12361C>T (p.Arg4121Cys) rs772357461 0.00002
NM_206933.4(USH2A):c.12451G>C (p.Asp4151His) rs747947192 0.00002
NM_206933.4(USH2A):c.12457G>A (p.Ala4153Thr) rs145531316 0.00002
NM_206933.4(USH2A):c.12724A>G (p.Thr4242Ala) rs140010020 0.00002
NM_206933.4(USH2A):c.13139C>T (p.Thr4380Ile) rs533179037 0.00002
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile) rs373152283 0.00002
NM_206933.4(USH2A):c.13955C>A (p.Thr4652Asn) rs148605973 0.00002
NM_206933.4(USH2A):c.14658G>T (p.Lys4886Asn) rs1394766722 0.00002
NM_206933.4(USH2A):c.1510C>A (p.His504Asn) rs533024548 0.00002
NM_206933.4(USH2A):c.15139A>C (p.Met5047Leu) rs773541511 0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040 0.00002
NM_206933.4(USH2A):c.15248A>T (p.Gln5083Leu) rs774644535 0.00002
NM_206933.4(USH2A):c.15331_15333del (p.Thr5111del) rs766970587 0.00002
NM_206933.4(USH2A):c.15520-1G>A rs767265734 0.00002
NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr) rs267598369 0.00002
NM_206933.4(USH2A):c.15575A>T (p.Lys5192Met) rs761474352 0.00002
NM_206933.4(USH2A):c.15582C>T (p.Arg5194=) rs775780004 0.00002
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn) rs551424240 0.00002
NM_206933.4(USH2A):c.1789C>A (p.His597Asn) rs201127450 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.274T>G (p.Ser92Ala) rs192918169 0.00002
NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val) rs768158580 0.00002
NM_206933.4(USH2A):c.3212A>G (p.Asn1071Ser) rs533927645 0.00002
NM_206933.4(USH2A):c.3316+5G>C rs1442104013 0.00002
NM_206933.4(USH2A):c.3327C>T (p.Tyr1109=) rs758705873 0.00002
NM_206933.4(USH2A):c.3342C>T (p.Asp1114=) rs755765979 0.00002
NM_206933.4(USH2A):c.3980C>T (p.Thr1327Ile) rs774663133 0.00002
NM_206933.4(USH2A):c.4627+850C>T rs906951959 0.00002
NM_206933.4(USH2A):c.4803A>T (p.Gln1601His) rs761306493 0.00002
NM_206933.4(USH2A):c.5095C>A (p.Gln1699Lys) rs1351926905 0.00002
NM_206933.4(USH2A):c.565C>T (p.Arg189Cys) rs370653547 0.00002
NM_206933.4(USH2A):c.6050-3T>C rs368789291 0.00002
NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr) rs749333215 0.00002
NM_206933.4(USH2A):c.6197C>T (p.Ser2066Phe) rs2030530878 0.00002
NM_206933.4(USH2A):c.6448G>T (p.Val2150Phe) rs756234447 0.00002
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027 0.00002
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met) rs776972526 0.00002
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909 0.00002
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg) rs375744536 0.00002
NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe) rs372950392 0.00002
NM_206933.4(USH2A):c.7517A>G (p.Tyr2506Cys) rs937606032 0.00002
NM_206933.4(USH2A):c.7776A>G (p.Pro2592=) rs753565758 0.00002
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu) rs748455430 0.00002
NM_206933.4(USH2A):c.7906A>G (p.Thr2636Ala) rs752549947 0.00002
NM_206933.4(USH2A):c.8084A>G (p.Lys2695Arg) rs770631315 0.00002
NM_206933.4(USH2A):c.8188C>A (p.Pro2730Thr) rs768532694 0.00002
NM_206933.4(USH2A):c.8222A>G (p.Gln2741Arg) rs374456269 0.00002
NM_206933.4(USH2A):c.8443A>G (p.Thr2815Ala) rs780543913 0.00002
NM_206933.4(USH2A):c.8486T>C (p.Val2829Ala) rs759063087 0.00002
NM_206933.4(USH2A):c.8645G>C (p.Gly2882Ala) rs527467361 0.00002
NM_206933.4(USH2A):c.8741G>A (p.Arg2914Gln) rs760779633 0.00002
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu) rs1467856164 0.00002
NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr) rs759365458 0.00002
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr) rs876658116 0.00002
NM_206933.4(USH2A):c.9400C>T (p.Arg3134Trp) rs749482634 0.00002
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val) rs750899958 0.00002
NM_206933.4(USH2A):c.9806G>A (p.Gly3269Asp) rs762076576 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_206933.4(USH2A):c.9950G>A (p.Arg3317His) rs140746096 0.00002
NM_206933.4(USH2A):c.-204-15G>A rs1162064882 0.00001
NM_206933.4(USH2A):c.10058C>T (p.Pro3353Leu) rs755020832 0.00001
NM_206933.4(USH2A):c.10064C>T (p.Pro3355Leu) rs1253788950 0.00001
NM_206933.4(USH2A):c.10093C>G (p.Pro3365Ala) rs1661940699 0.00001
NM_206933.4(USH2A):c.10112G>A (p.Cys3371Tyr) rs1661940280 0.00001
NM_206933.4(USH2A):c.10151C>A (p.Ser3384Tyr) rs553202000 0.00001
NM_206933.4(USH2A):c.10182+5T>C rs1049628868 0.00001
NM_206933.4(USH2A):c.10196G>A (p.Cys3399Tyr) rs765920408 0.00001
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met) rs149485593 0.00001
NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly) rs762384558 0.00001
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys) rs749121941 0.00001
NM_206933.4(USH2A):c.10423A>G (p.Arg3475Gly) rs141098637 0.00001
NM_206933.4(USH2A):c.1047T>C (p.Asp349=) rs775053681 0.00001
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser) rs777043718 0.00001
NM_206933.4(USH2A):c.10763G>C (p.Gly3588Ala) rs567356824 0.00001
NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile) rs763125604 0.00001
NM_206933.4(USH2A):c.10854C>T (p.Gly3618=) rs1348201363 0.00001
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464 0.00001
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile) rs397517970 0.00001
NM_206933.4(USH2A):c.11089A>G (p.Thr3697Ala) rs765454203 0.00001
NM_206933.4(USH2A):c.11155C>T (p.Arg3719Cys) rs758951363 0.00001
NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn) rs1373104511 0.00001
NM_206933.4(USH2A):c.1120G>A (p.Asp374Asn) rs753619373 0.00001
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg) rs397517971 0.00001
NM_206933.4(USH2A):c.11299A>T (p.Thr3767Ser) rs1289393326 0.00001
NM_206933.4(USH2A):c.11350A>C (p.Ile3784Leu) rs1660884865 0.00001
NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met) rs200521328 0.00001
NM_206933.4(USH2A):c.11596G>C (p.Ala3866Pro) rs1571639421 0.00001
NM_206933.4(USH2A):c.11631A>C (p.Ala3877=) rs1318290007 0.00001
NM_206933.4(USH2A):c.1172G>T (p.Ser391Ile) rs949082769 0.00001
NM_206933.4(USH2A):c.11740G>A (p.Val3914Ile) rs1401744202 0.00001
NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln) rs727504582 0.00001
NM_206933.4(USH2A):c.11887G>A (p.Ala3963Thr) rs541566194 0.00001
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala) rs727505322 0.00001
NM_206933.4(USH2A):c.12092A>G (p.Tyr4031Cys) rs772969352 0.00001
NM_206933.4(USH2A):c.12149G>A (p.Gly4050Glu) rs867523397 0.00001
NM_206933.4(USH2A):c.12273G>A (p.Met4091Ile) rs751834009 0.00001
NM_206933.4(USH2A):c.12316G>A (p.Gly4106Arg) rs1174206381 0.00001
NM_206933.4(USH2A):c.12359G>A (p.Arg4120His) rs188008529 0.00001
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His) rs397517980 0.00001
NM_206933.4(USH2A):c.12415G>C (p.Gly4139Arg) rs138866017 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.12455A>G (p.Glu4152Gly) rs768614804 0.00001
NM_206933.4(USH2A):c.12458C>T (p.Ala4153Val) rs779875423 0.00001
NM_206933.4(USH2A):c.12559C>T (p.Arg4187Cys) rs760177550 0.00001
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His) rs147304271 0.00001
NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg) rs769001387 0.00001
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr) rs955434291 0.00001
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys) rs141943290 0.00001
NM_206933.4(USH2A):c.12640A>G (p.Thr4214Ala) rs145099178 0.00001
NM_206933.4(USH2A):c.12929G>A (p.Ser4310Asn) rs1482821042 0.00001
NM_206933.4(USH2A):c.12958G>C (p.Asp4320His) rs140202956 0.00001
NM_206933.4(USH2A):c.12962A>G (p.Glu4321Gly) rs936692193 0.00001
NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe) rs750512832 0.00001
NM_206933.4(USH2A):c.12986A>G (p.Tyr4329Cys) rs371401837 0.00001
NM_206933.4(USH2A):c.12992A>G (p.Tyr4331Cys) rs1423233510 0.00001
NM_206933.4(USH2A):c.12997C>G (p.Leu4333Val) rs770620234 0.00001
NM_206933.4(USH2A):c.13148A>C (p.Asn4383Thr) rs1418825414 0.00001
NM_206933.4(USH2A):c.1327A>C (p.Asn443His) rs775075026 0.00001
NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met) rs1453273341 0.00001
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys) rs921800139 0.00001
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406 0.00001
NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys) rs746221227 0.00001
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys) rs1268140508 0.00001
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala) rs774759345 0.00001
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu) rs772415448 0.00001
NM_206933.4(USH2A):c.13684A>G (p.Ile4562Val) rs1427845684 0.00001
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu) rs1202573136 0.00001
NM_206933.4(USH2A):c.13802C>T (p.Pro4601Leu) rs1176215017 0.00001
NM_206933.4(USH2A):c.13870T>G (p.Phe4624Val) rs1369860869 0.00001
NM_206933.4(USH2A):c.13885G>A (p.Glu4629Lys) rs906152033 0.00001
NM_206933.4(USH2A):c.1394C>T (p.Pro465Leu) rs2037663532 0.00001
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val) rs1553250627 0.00001
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His) rs1040917329 0.00001
NM_206933.4(USH2A):c.14086T>C (p.Ser4696Pro) rs751019233 0.00001
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser) rs369513607 0.00001
NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu) rs201631375 0.00001
NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser) rs55838724 0.00001
NM_206933.4(USH2A):c.14328T>G (p.His4776Gln) rs1220949681 0.00001
NM_206933.4(USH2A):c.14335G>A (p.Glu4779Lys) rs769420341 0.00001
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839 0.00001
NM_206933.4(USH2A):c.14405C>T (p.Ser4802Phe) rs775307880 0.00001
NM_206933.4(USH2A):c.14542C>T (p.Arg4848Trp) rs757728612 0.00001
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu) rs374096293 0.00001
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789 0.00001
NM_206933.4(USH2A):c.14832G>T (p.Leu4944Phe) rs556415914 0.00001
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys) rs766759858 0.00001
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe) rs41308423 0.00001
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile) rs397517996 0.00001
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn) rs374144657 0.00001
NM_206933.4(USH2A):c.15142G>A (p.Ala5048Thr) rs371182500 0.00001
NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe) rs542341955 0.00001
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro) rs376816523 0.00001
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122 0.00001
NM_206933.4(USH2A):c.15265T>C (p.Leu5089=) rs746439490 0.00001
NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys) rs759899869 0.00001
NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr) rs768813865 0.00001
NM_206933.4(USH2A):c.15506A>G (p.His5169Arg) rs146085433 0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590 0.00001
NM_206933.4(USH2A):c.15577G>T (p.Glu5193Ter) rs1365989569 0.00001
NM_206933.4(USH2A):c.15580C>T (p.Arg5194Cys) rs751811618 0.00001
NM_206933.4(USH2A):c.1666T>C (p.Tyr556His) rs1222582781 0.00001
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala) rs147509797 0.00001
NM_206933.4(USH2A):c.1761C>T (p.Asn587=) rs1571668714 0.00001
NM_206933.4(USH2A):c.1840+4A>G rs749288291 0.00001
NM_206933.4(USH2A):c.1900G>T (p.Ala634Ser) rs759589036 0.00001
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly) rs397518005 0.00001
NM_206933.4(USH2A):c.1972-4C>T rs772294505 0.00001
NM_206933.4(USH2A):c.2031G>T (p.Gln677His) rs753305011 0.00001
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile) rs377254440 0.00001
NM_206933.4(USH2A):c.2139C>T (p.Gly713=) rs765293412 0.00001
NM_206933.4(USH2A):c.2167+4C>T rs200638562 0.00001
NM_206933.4(USH2A):c.2279A>G (p.Asn760Ser) rs776095235 0.00001
NM_206933.4(USH2A):c.232T>G (p.Phe78Val) rs775094277 0.00001
NM_206933.4(USH2A):c.2903G>T (p.Gly968Val) rs1348183693 0.00001
NM_206933.4(USH2A):c.2972G>A (p.Gly991Glu) rs779811357 0.00001
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr) rs1391032458 0.00001
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739 0.00001
NM_206933.4(USH2A):c.3310C>A (p.Pro1104Thr) rs751890894 0.00001
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser) rs372843685 0.00001
NM_206933.4(USH2A):c.3446A>T (p.Glu1149Val) rs1318186049 0.00001
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=) rs139156019 0.00001
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu) rs727503734 0.00001
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn) rs202247801 0.00001
NM_206933.4(USH2A):c.3664G>A (p.Ala1222Thr) rs761752531 0.00001
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile) rs768461447 0.00001
NM_206933.4(USH2A):c.3899G>A (p.Ser1300Asn) rs772408328 0.00001
NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu) rs780574336 0.00001
NM_206933.4(USH2A):c.3933G>A (p.Ser1311=) rs560861284 0.00001
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser) rs145459379 0.00001
NM_206933.4(USH2A):c.3955C>A (p.Pro1319Thr) rs773133837 0.00001
NM_206933.4(USH2A):c.3969G>A (p.Met1323Ile) rs886045953 0.00001
NM_206933.4(USH2A):c.4040G>A (p.Ser1347Asn) rs760233343 0.00001
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met) rs201190539 0.00001
NM_206933.4(USH2A):c.419C>A (p.Pro140His) rs759474177 0.00001
NM_206933.4(USH2A):c.4280T>C (p.Leu1427Pro) rs373130157 0.00001
NM_206933.4(USH2A):c.4314G>T (p.Arg1438Ser) rs776039417 0.00001
NM_206933.4(USH2A):c.4366G>A (p.Ala1456Thr) rs886045950 0.00001
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu) rs2034688425 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro) rs757315203 0.00001
NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile) rs961580455 0.00001
NM_206933.4(USH2A):c.4490C>T (p.Ser1497Phe) rs755482100 0.00001
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) rs373599651 0.00001
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361 0.00001
NM_206933.4(USH2A):c.4679C>A (p.Ala1560Glu) rs1388648004 0.00001
NM_206933.4(USH2A):c.4733G>A (p.Arg1578His) rs552928943 0.00001
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn) rs775241651 0.00001
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val) rs397518017 0.00001
NM_206933.4(USH2A):c.4870G>T (p.Asp1624Tyr) rs1418438946 0.00001
NM_206933.4(USH2A):c.5002G>A (p.Gly1668Ser) rs1487579070 0.00001
NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val) rs1265349835 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.5111A>T (p.Asn1704Ile) rs764080143 0.00001
NM_206933.4(USH2A):c.5189A>G (p.Tyr1730Cys) rs375519871 0.00001
NM_206933.4(USH2A):c.5298+5G>A rs1176314553 0.00001
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu) rs527598451 0.00001
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro) rs1171672823 0.00001
NM_206933.4(USH2A):c.5434A>T (p.Ile1812Leu) rs372590222 0.00001
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414 0.00001
NM_206933.4(USH2A):c.5443A>G (p.Ser1815Gly) rs940913250 0.00001
NM_206933.4(USH2A):c.5594A>G (p.Asp1865Gly) rs760543320 0.00001
NM_206933.4(USH2A):c.5732G>A (p.Gly1911Glu) rs763747123 0.00001
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys) rs529355834 0.00001
NM_206933.4(USH2A):c.5858-12A>G rs727503727 0.00001
NM_206933.4(USH2A):c.5945G>A (p.Gly1982Asp) rs765590481 0.00001
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys) rs150143291 0.00001
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys) rs777886737 0.00001
NM_206933.4(USH2A):c.6048A>G (p.Thr2016=) rs995870865 0.00001
NM_206933.4(USH2A):c.6050G>A (p.Gly2017Asp) rs397518024 0.00001
NM_206933.4(USH2A):c.6119G>C (p.Cys2040Ser) rs748371326 0.00001
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn) rs759545289 0.00001
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala) rs754703964 0.00001
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn) rs727503724 0.00001
NM_206933.4(USH2A):c.651G>T (p.Gln217His) rs758696021 0.00001
NM_206933.4(USH2A):c.6589A>G (p.Thr2197Ala) rs887441664 0.00001
NM_206933.4(USH2A):c.6667G>A (p.Gly2223Ser) rs1047559421 0.00001
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp) rs755612537 0.00001
NM_206933.4(USH2A):c.6709G>T (p.Asp2237Tyr) rs1177455978 0.00001
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys) rs774634733 0.00001
NM_206933.4(USH2A):c.6751T>A (p.Ser2251Thr) rs750302027 0.00001
NM_206933.4(USH2A):c.6805+195T>G rs1193295201 0.00001
NM_206933.4(USH2A):c.6806-3C>T rs775703386 0.00001
NM_206933.4(USH2A):c.6843A>G (p.Ile2281Met) rs1195257429 0.00001
NM_206933.4(USH2A):c.6854A>G (p.Asn2285Ser) rs528089082 0.00001
NM_206933.4(USH2A):c.6889G>T (p.Ala2297Ser) rs150634036 0.00001
NM_206933.4(USH2A):c.6908C>T (p.Ser2303Phe) rs766809837 0.00001
NM_206933.4(USH2A):c.6968G>A (p.Arg2323Gln) rs772014718 0.00001
NM_206933.4(USH2A):c.6988G>A (p.Glu2330Lys) rs926377709 0.00001
NM_206933.4(USH2A):c.6994A>G (p.Thr2332Ala) rs1667317930 0.00001
NM_206933.4(USH2A):c.7019A>C (p.Gln2340Pro) rs751937450 0.00001
NM_206933.4(USH2A):c.7019A>T (p.Gln2340Leu) rs751937450 0.00001
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met) rs727503721 0.00001
NM_206933.4(USH2A):c.7051G>A (p.Ala2351Thr) rs886042178 0.00001
NM_206933.4(USH2A):c.7105T>G (p.Phe2369Val) rs1475753019 0.00001
NM_206933.4(USH2A):c.7138C>T (p.Leu2380Phe) rs1308006303 0.00001
NM_206933.4(USH2A):c.7156G>T (p.Val2386Phe) rs199825458 0.00001
NM_206933.4(USH2A):c.7218C>A (p.Thr2406=) rs372817698 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr) rs374569301 0.00001
NM_206933.4(USH2A):c.7411C>T (p.Leu2471Phe) rs775824145 0.00001
NM_206933.4(USH2A):c.7412T>A (p.Leu2471His) rs1290644032 0.00001
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile) rs876658115 0.00001
NM_206933.4(USH2A):c.7452-3C>T rs768233894 0.00001
NM_206933.4(USH2A):c.7461C>T (p.Ser2487=) rs769678033 0.00001
NM_206933.4(USH2A):c.7681G>A (p.Gly2561Arg) rs781685696 0.00001
NM_206933.4(USH2A):c.7728G>C (p.Leu2576Phe) rs151037142 0.00001
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg) rs397518032 0.00001
NM_206933.4(USH2A):c.7880T>A (p.Ile2627Asn) rs745480430 0.00001
NM_206933.4(USH2A):c.7952A>G (p.Asn2651Ser) rs745559540 0.00001
NM_206933.4(USH2A):c.8009C>G (p.Thr2670Ser) rs758382005 0.00001
NM_206933.4(USH2A):c.800T>C (p.Val267Ala) rs1047582820 0.00001
NM_206933.4(USH2A):c.8021C>A (p.Thr2674Asn) rs754677752 0.00001
NM_206933.4(USH2A):c.8095C>T (p.Arg2699Trp) rs771526931 0.00001
NM_206933.4(USH2A):c.8102T>C (p.Leu2701Pro) rs982853731 0.00001
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu) rs397518034 0.00001
NM_206933.4(USH2A):c.8168G>A (p.Arg2723Gln) rs267598376 0.00001
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu) rs549796389 0.00001
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) rs397518035 0.00001
NM_206933.4(USH2A):c.8212G>A (p.Asp2738Asn) rs750687826 0.00001
NM_206933.4(USH2A):c.82A>G (p.Ile28Val) rs753515909 0.00001
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg) rs397518037 0.00001
NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu) rs373811292 0.00001
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala) rs762358589 0.00001
NM_206933.4(USH2A):c.8824G>A (p.Asp2942Asn) rs763232931 0.00001
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390 0.00001
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile) rs761359720 0.00001
NM_206933.4(USH2A):c.8985C>G (p.Ile2995Met) rs901891136 0.00001
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys) rs559922535 0.00001
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His) rs111033456 0.00001
NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser) rs768579751 0.00001
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys) rs770418427 0.00001
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp) rs766298464 0.00001
NM_206933.4(USH2A):c.9185A>G (p.Tyr3062Cys) rs1368683731 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_206933.4(USH2A):c.9539G>C (p.Cys3180Ser) rs1229658229 0.00001
NM_206933.4(USH2A):c.9565G>T (p.Ala3189Ser) rs752996514 0.00001
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala) rs776395355 0.00001
NM_206933.4(USH2A):c.9695C>A (p.Pro3232Gln) rs774654676 0.00001
NM_206933.4(USH2A):c.9820T>A (p.Ser3274Thr) rs1236116000 0.00001
NM_206933.4(USH2A):c.9834C>A (p.Asn3278Lys) rs904037823 0.00001
NM_206933.4(USH2A):c.9851G>A (p.Gly3284Glu) rs1043013730 0.00001
NM_206933.4(USH2A):c.9862G>C (p.Asp3288His) rs1334903455 0.00001
NM_206933.4(USH2A):c.9875A>G (p.Gln3292Arg) rs1243226250 0.00001
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe) rs1662221668 0.00001
NM_206933.4(USH2A):c.9906C>T (p.Asn3302=) rs757439664 0.00001
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly) rs766658893 0.00001
NM_206933.4(USH2A):c.9974G>A (p.Gly3325Glu) rs1378786390 0.00001
NM_206933.4(USH2A):c.9982T>A (p.Tyr3328Asn) rs1558099268 0.00001
NM_206933.4(USH2A):c.-159G>C rs886045955
NM_206933.4(USH2A):c.-181C>T rs866904288
NM_206933.4(USH2A):c.-1C>G rs547139318
NM_206933.4(USH2A):c.-229C>T rs151238022
NM_206933.4(USH2A):c.-289C>A rs886045956
NM_206933.4(USH2A):c.-289C>T rs886045956
NM_206933.4(USH2A):c.-4A>G rs2039693971
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu) rs746870063
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys) rs757682417
NM_206933.4(USH2A):c.101G>A (p.Arg34Gln) rs2039690682
NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp) rs1558097546
NM_206933.4(USH2A):c.10265G>A (p.Ser3422Asn) rs773660267
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile) rs1416602859
NM_206933.4(USH2A):c.1039_1041del (p.Asp347del) rs1553250786
NM_206933.4(USH2A):c.10413A>G (p.Thr3471=) rs530322386
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys) rs1553261469
NM_206933.4(USH2A):c.1041T>C (p.Asp347=) rs2102655884
NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr) rs1553261464
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser) rs771610821
NM_206933.4(USH2A):c.10526A>G (p.Lys3509Arg) rs2102763446
NM_206933.4(USH2A):c.10534A>C (p.Asn3512His) rs758985068
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser) rs111033439
NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr)
NM_206933.4(USH2A):c.10628G>A (p.Arg3543His)
NM_206933.4(USH2A):c.10631T>C (p.Phe3544Ser) rs2102762754
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn) rs910086490
NM_206933.4(USH2A):c.10666G>A (p.Gly3556Arg) rs1661660762
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) rs397517968
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp) rs144560419
NM_206933.4(USH2A):c.10734T>C (p.Ser3578=) rs1661658126
NM_206933.4(USH2A):c.10740+7G>A rs201206110
NM_206933.4(USH2A):c.10740G>C (p.Lys3580Asn) rs369507534
NM_206933.4(USH2A):c.10779C>G (p.Ile3593Met) rs781539138
NM_206933.4(USH2A):c.10855G>A (p.Val3619Ile)
NM_206933.4(USH2A):c.10878G>T (p.Arg3626Ser)
NM_206933.4(USH2A):c.10993G>A (p.Gly3665Arg)
NM_206933.4(USH2A):c.11012C>T (p.Pro3671Leu) rs1238814587
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn) rs2102742330
NM_206933.4(USH2A):c.11096_11098del (p.Glu3699_Leu3700delinsVal) rs1553259182
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu) rs527236139
NM_206933.4(USH2A):c.11168T>G (p.Leu3723Trp) rs928040621
NM_206933.4(USH2A):c.11203A>T (p.Thr3735Ser)
NM_206933.4(USH2A):c.11213A>T (p.Asn3738Ile) rs1416382590
NM_206933.4(USH2A):c.11215C>G (p.Leu3739Val) rs2102742157
NM_206933.4(USH2A):c.11228G>A (p.Ser3743Asn) rs112898958
NM_206933.4(USH2A):c.11279G>C (p.Ser3760Thr) rs773373939
NM_206933.4(USH2A):c.11390-2del rs760100733
NM_206933.4(USH2A):c.1142A>G (p.Gln381Arg) rs1553250774
NM_206933.4(USH2A):c.11434_11436del (p.Asn3812del) rs1553257704
NM_206933.4(USH2A):c.11450C>T (p.Thr3817Ile)
NM_206933.4(USH2A):c.11534A>C (p.Gln3845Pro) rs1553257674
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val) rs1553257673
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met) rs397517975
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del) rs727504714
NM_206933.4(USH2A):c.11711G>A (p.Arg3904Lys)
NM_206933.4(USH2A):c.11725A>G (p.Ile3909Val) rs1659895227
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln) rs1436435041
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile) rs1659890930
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn) rs866937010
NM_206933.4(USH2A):c.12027T>A (p.Pro4009=) rs752752496
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val) rs141528682
NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)
NM_206933.4(USH2A):c.12126TGT[1] (p.Val4044del) rs1553252937
NM_206933.4(USH2A):c.12139_12147del (p.Asn4047_Ala4049del) rs1553252931
NM_206933.4(USH2A):c.12194C>T (p.Ser4065Phe)
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)
NM_206933.4(USH2A):c.12265G>A (p.Glu4089Lys) rs1658179050
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del) rs1657997491
NM_206933.4(USH2A):c.1233C>A (p.Asp411Glu)
NM_206933.4(USH2A):c.1236G>C (p.Trp412Cys) rs757525434
NM_206933.4(USH2A):c.12398A>T (p.Glu4133Val) rs1657992951
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe) rs1064797131
NM_206933.4(USH2A):c.1246G>A (p.Ala416Thr) rs187897763
NM_206933.4(USH2A):c.1246G>T (p.Ala416Ser) rs187897763
NM_206933.4(USH2A):c.12484A>G (p.Thr4162Ala) rs1363933493
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu) rs147304271
NM_206933.4(USH2A):c.12582C>T (p.Cys4194=) rs1571949553
NM_206933.4(USH2A):c.12586G>A (p.Glu4196Lys) rs770065010
NM_206933.4(USH2A):c.1258G>A (p.Gly420Ser) rs2037680211
NM_206933.4(USH2A):c.1259G>A (p.Gly420Asp)
NM_206933.4(USH2A):c.12611_12612inv (p.Thr4204Met)
NM_206933.4(USH2A):c.12737_12738delinsGG (p.Ala4246Gly) rs1553252489
NM_206933.4(USH2A):c.12806C>G (p.Pro4269Arg) rs1553252475
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser) rs727505117
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro) rs1553252463
NM_206933.4(USH2A):c.12910G>A (p.Glu4304Lys) rs1657961774
NM_206933.4(USH2A):c.12926T>G (p.Phe4309Cys) rs1657960533
NM_206933.4(USH2A):c.12940G>A (p.Val4314Met)
NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala) rs1657955894
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His) rs2102665721
NM_206933.4(USH2A):c.1316T>C (p.Leu439Pro) rs1558038097
NM_206933.4(USH2A):c.13193C>G (p.Ser4398Cys) rs144200261
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu) rs2039690182
NM_206933.4(USH2A):c.13202G>T (p.Gly4401Val) rs763576540
NM_206933.4(USH2A):c.13222G>T (p.Val4408Phe) rs111033500
NM_206933.4(USH2A):c.13259C>T (p.Ser4420Phe) rs146240320
NM_206933.4(USH2A):c.1327A>G (p.Asn443Asp) rs775075026
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg) rs372802465
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.13390T>C (p.Trp4464Arg) rs1403832675
NM_206933.4(USH2A):c.1340A>G (p.Tyr447Cys) rs1553250638
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser) rs1657932443
NM_206933.4(USH2A):c.13444G>A (p.Asp4482Asn) rs1657930957
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe) rs746442849
NM_206933.4(USH2A):c.13586C>G (p.Pro4529Arg) rs754560573
NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly) rs775560370
NM_206933.4(USH2A):c.13633C>T (p.Pro4545Ser) rs2102664812
NM_206933.4(USH2A):c.1363A>G (p.Ser455Gly) rs866877329
NM_206933.4(USH2A):c.13665_13667dup (p.Val4556dup) rs1553252347
NM_206933.4(USH2A):c.13740A>G (p.Ile4580Met) rs1416382135
NM_206933.4(USH2A):c.13750dup (p.Thr4584fs) rs1553252328
NM_206933.4(USH2A):c.13776G>C (p.Gln4592His) rs1350039852
NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu) rs2037663922
NM_206933.4(USH2A):c.13805T>C (p.Phe4602Ser) rs574442439
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.13811+3A>G rs760716728
NM_206933.4(USH2A):c.13820T>A (p.Ile4607Lys) rs764431065
NM_206933.4(USH2A):c.13876C>G (p.Gln4626Glu) rs1657805631
NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)
NM_206933.4(USH2A):c.13907C>T (p.Pro4636Leu) rs150600947
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.4(USH2A):c.13964T>C (p.Leu4655Pro)
NM_206933.4(USH2A):c.13979C>A (p.Pro4660Gln) rs761367363
NM_206933.4(USH2A):c.14146A>G (p.Asn4716Asp) rs2102645078
NM_206933.4(USH2A):c.14173T>C (p.Trp4725Arg)
NM_206933.4(USH2A):c.14204C>G (p.Pro4735Arg) rs1333608275
NM_206933.4(USH2A):c.14225C>G (p.Thr4742Arg) rs370157230
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu) rs781195579
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)
NM_206933.4(USH2A):c.14434A>T (p.Asn4812Tyr) rs746985615
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
NM_206933.4(USH2A):c.14531C>A (p.Thr4844Lys) rs200570742
NM_206933.4(USH2A):c.14537C>G (p.Ser4846Cys) rs781558053
NM_206933.4(USH2A):c.14537C>T (p.Ser4846Phe)
NM_206933.4(USH2A):c.14609G>A (p.Cys4870Tyr) rs2102642261
NM_206933.4(USH2A):c.14632T>G (p.Cys4878Gly) rs779400517
NM_206933.4(USH2A):c.14635A>G (p.Thr4879Ala) rs745580452
NM_206933.4(USH2A):c.14683A>G (p.Ser4895Gly) rs1469032409
NM_206933.4(USH2A):c.1469A>C (p.His490Pro)
NM_206933.4(USH2A):c.14876G>A (p.Gly4959Asp) rs1656647412
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
NM_206933.4(USH2A):c.14923A>G (p.Ser4975Gly) rs147514366
NM_206933.4(USH2A):c.14961G>T (p.Ala4987=) rs568581229
NM_206933.4(USH2A):c.14970CTT[1] (p.Phe4993del) rs1553249310
NM_206933.4(USH2A):c.14995A>G (p.Thr4999Ala) rs1553249303
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu) rs1237333884
NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile) rs1029854359
NM_206933.4(USH2A):c.15115_15117del (p.Ser5039del) rs1553248836
NM_206933.4(USH2A):c.15147_15160del (p.Met5049fs) rs1553248832
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del) rs1553250595
NM_206933.4(USH2A):c.15172T>C (p.Phe5058Leu)
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr) rs397517999
NM_206933.4(USH2A):c.15298-18_15301dup rs1553248238
NM_206933.4(USH2A):c.15307G>A (p.Asp5103Asn)
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp) rs746098518
NM_206933.4(USH2A):c.15373C>T (p.Arg5125Cys)
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn) rs774383785
NM_206933.4(USH2A):c.15563G>C (p.Ser5188Thr) rs779531682
NM_206933.4(USH2A):c.15577del (p.Glu5193fs) rs1553313073
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His) rs727505155
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val) rs772624410
NM_206933.4(USH2A):c.1580G>T (p.Cys527Phe) rs755735339
NM_206933.4(USH2A):c.1586CAA[1] (p.Thr530del) rs1553250409
NM_206933.4(USH2A):c.1588A>G (p.Thr530Ala) rs2037620114
NM_206933.4(USH2A):c.1644+5G>C rs1558036810
NM_206933.4(USH2A):c.1645T>A (p.Cys549Ser) rs1064797139
NM_206933.4(USH2A):c.1648G>C (p.Asp550His) rs727504805
NM_206933.4(USH2A):c.1724G>T (p.Cys575Phe) rs483353054
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg) rs1553327470
NM_206933.4(USH2A):c.1808G>A (p.Gly603Glu) rs1427232199
NM_206933.4(USH2A):c.182C>A (p.Pro61Gln) rs938662688
NM_206933.4(USH2A):c.1832A>C (p.Asn611Thr) rs2102610653
NM_206933.4(USH2A):c.1841-377A>G
NM_206933.4(USH2A):c.188G>C (p.Arg63Pro) rs369806765
NM_206933.4(USH2A):c.1891G>C (p.Asp631His) rs552400144
NM_206933.4(USH2A):c.2002G>A (p.Val668Met) rs1404273822
NM_206933.4(USH2A):c.2081G>C (p.Cys694Ser) rs137954284
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe) rs1352007983
NM_206933.4(USH2A):c.2149T>A (p.Cys717Ser) rs1304016981
NM_206933.4(USH2A):c.2185T>C (p.Cys729Arg) rs2102546492
NM_206933.4(USH2A):c.2210G>A (p.Arg737Gln) rs778957703
NM_206933.4(USH2A):c.2223T>G (p.Asp741Glu) rs1487392425
NM_206933.4(USH2A):c.253A>G (p.Ile85Val) rs770983063
NM_206933.4(USH2A):c.257A>T (p.Gln86Leu)
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala) rs754932972
NM_206933.4(USH2A):c.2857T>C (p.Cys953Arg) rs762059922
NM_206933.4(USH2A):c.2942G>A (p.Arg981His)
NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser) rs1553316429
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser) rs2035366945
NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp) rs150729680
NM_206933.4(USH2A):c.3026C>G (p.Ala1009Gly)
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val) rs150729680
NM_206933.4(USH2A):c.3095G>A (p.Cys1032Tyr) rs762711963
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser) rs1396798963
NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del) rs1396847135
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg) rs111033377
NM_206933.4(USH2A):c.3199TCT[1] (p.Ser1068del) rs1461275915
NM_206933.4(USH2A):c.3250_3251insTACTTACAGTTTACT (p.His1083_Trp1084insLeuLeuThrValTyr) rs1553314999
NM_206933.4(USH2A):c.3316+6T>C rs373631038
NM_206933.4(USH2A):c.3317-14del rs376363548
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3409G>A (p.Val1137Ile) rs914071757
NM_206933.4(USH2A):c.349C>T (p.His117Tyr)
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del) rs1294733964
NM_206933.4(USH2A):c.3660A>G (p.Val1220=) rs2034940102
NM_206933.4(USH2A):c.3678G>A (p.Gly1226=) rs376090043
NM_206933.4(USH2A):c.3680G>C (p.Gly1227Ala)
NM_206933.4(USH2A):c.3715G>A (p.Ala1239Thr) rs373698501
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser) rs755849364
NM_206933.4(USH2A):c.3725C>T (p.Pro1242Leu) rs886045954
NM_206933.4(USH2A):c.3809A>G (p.Asn1270Ser)
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val)
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln) rs372993160
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu) rs372993160
NM_206933.4(USH2A):c.4024G>C (p.Val1342Leu) rs778505422
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe)
NM_206933.4(USH2A):c.4129T>A (p.Ser1377Thr) rs2102460604
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro) rs2034852728
NM_206933.4(USH2A):c.4136A>G (p.Asn1379Ser) rs752569816
NM_206933.4(USH2A):c.415CCT[1] (p.Pro140del) rs773595155
NM_206933.4(USH2A):c.4251+3A>G rs1181655123
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His) rs2102460239
NM_206933.4(USH2A):c.4252-36CTTT[7] rs372388546
NM_206933.4(USH2A):c.4276G>A (p.Glu1426Lys) rs886045952
NM_206933.4(USH2A):c.4282T>C (p.Ser1428Pro) rs369185265
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu) rs1230923403
NM_206933.4(USH2A):c.4328C>T (p.Thr1443Ile) rs772742405
NM_206933.4(USH2A):c.432G>A (p.Leu144=) rs760787084
NM_206933.4(USH2A):c.4349T>C (p.Val1450Ala) rs886045951
NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser) rs2034687815
NM_206933.4(USH2A):c.4412G>C (p.Arg1471Thr) rs369357349
NM_206933.4(USH2A):c.442_443inv (p.Phe148Asn)
NM_206933.4(USH2A):c.4481A>T (p.Asn1494Ile) rs2034357761
NM_206933.4(USH2A):c.4521_4522insCAGTCA (p.Ser1507_Ser1508insGlnSer) rs1553310736
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe) rs770790346
NM_206933.4(USH2A):c.4627+1091T>C rs886045945
NM_206933.4(USH2A):c.4627+1205_4627+1208del rs751661540
NM_206933.4(USH2A):c.4627+28A>G rs773190850
NM_206933.4(USH2A):c.4627+330A>G rs886045949
NM_206933.4(USH2A):c.4627+343A>G rs2034344204
NM_206933.4(USH2A):c.4627+36C>T rs577393945
NM_206933.4(USH2A):c.4627+442C>G rs1037400670
NM_206933.4(USH2A):c.4627+512G>A rs2034341678
NM_206933.4(USH2A):c.4627+589C>A rs886045948
NM_206933.4(USH2A):c.4627+813C>T rs192047831
NM_206933.4(USH2A):c.4627+945AT[3] rs886045946
NM_206933.4(USH2A):c.4627+974T>C rs2034329165
NM_206933.4(USH2A):c.4714C>G (p.Leu1572Val) rs111033333
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe) rs866592573
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.4861A>G (p.Ile1621Val) rs2032219588
NM_206933.4(USH2A):c.4998A>T (p.Gln1666His) rs2032076681
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5047A>G (p.Asn1683Asp) rs2102561202
NM_206933.4(USH2A):c.5162G>C (p.Gly1721Ala) rs2032067781
NM_206933.4(USH2A):c.5167+4A>G rs397518019
NM_206933.4(USH2A):c.5170T>G (p.Phe1724Val) rs1381827718
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp) rs1469348824
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser)
NM_206933.4(USH2A):c.5282G>A (p.Gly1761Glu) rs2102559662
NM_206933.4(USH2A):c.5363A>T (p.Asp1788Val) rs768237382
NM_206933.4(USH2A):c.5454_5455insAGAAATGGA (p.Gly1818_Leu1819insArgAsnGly) rs1553299065
NM_206933.4(USH2A):c.5471C>T (p.Ser1824Leu) rs748792761
NM_206933.4(USH2A):c.5479G>A (p.Gly1827Arg)
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu) rs199645514
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5561_5572+7dup rs1553299014
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.4(USH2A):c.5653A>G (p.Arg1885Gly)
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly) rs775803174
NM_206933.4(USH2A):c.566G>A (p.Arg189His) rs747767544
NM_206933.4(USH2A):c.566G>T (p.Arg189Leu) rs747767544
NM_206933.4(USH2A):c.5708A>G (p.Asn1903Ser) rs1162070622
NM_206933.4(USH2A):c.5726A>T (p.Tyr1909Phe) rs761586978
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=) rs747419030
NM_206933.4(USH2A):c.5776+9G>T rs1405078779
NM_206933.4(USH2A):c.5813G>T (p.Gly1938Val) rs2031607385
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala) rs2031607129
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn) rs747652397
NM_206933.4(USH2A):c.598G>C (p.Val200Leu) rs781022362
NM_206933.4(USH2A):c.6047C>A (p.Thr2016Lys)
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.6134A>T (p.His2045Leu) rs111033514
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr) rs768233523
NM_206933.4(USH2A):c.6167_6169del (p.Pro2056del) rs776262139
NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val)
NM_206933.4(USH2A):c.651+15A>G rs765252898
NM_206933.4(USH2A):c.6511G>A (p.Gly2171Arg) rs1668203744
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val) rs542406401
NM_206933.4(USH2A):c.6677G>A (p.Cys2226Tyr) rs562492049
NM_206933.4(USH2A):c.6711C>G (p.Asp2237Glu) rs138959688
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser) rs111033412
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val) rs201526850
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6741C>T (p.Pro2247=) rs766287712
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys) rs727503722
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile) rs1667318951
NM_206933.4(USH2A):c.7028G>A (p.Arg2343Gln)
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr) rs762558966
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu) rs1017425051
NM_206933.4(USH2A):c.7203G>T (p.Gly2401=) rs769558676
NM_206933.4(USH2A):c.7225A>C (p.Thr2409Pro) rs2102499658
NM_206933.4(USH2A):c.7238A>C (p.Asn2413Thr) rs780840434
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del) rs1665478442
NM_206933.4(USH2A):c.7342C>G (p.Pro2448Ala) rs1553274535
NM_206933.4(USH2A):c.7348A>C (p.Ser2450Arg)
NM_206933.4(USH2A):c.736A>G (p.Ile246Val) rs746975879
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe) rs1665475399
NM_206933.4(USH2A):c.7428C>A (p.Gly2476=) rs150372183
NM_206933.4(USH2A):c.7428C>T (p.Gly2476=) rs150372183
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp) rs397518031
NM_206933.4(USH2A):c.7492A>T (p.Ser2498Cys) rs754310768
NM_206933.4(USH2A):c.7526G>A (p.Arg2509Gln)
NM_206933.4(USH2A):c.7633A>G (p.Lys2545Glu) rs774559456
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe) rs397518033
NM_206933.4(USH2A):c.7765C>G (p.His2589Asp) rs747492773
NM_206933.4(USH2A):c.7892A>G (p.Glu2631Gly) rs1175968972
NM_206933.4(USH2A):c.7926A>G (p.Ile2642Met) rs1338661803
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser) rs1414367127
NM_206933.4(USH2A):c.8003A>G (p.Glu2668Gly) rs267598377
NM_206933.4(USH2A):c.8063C>T (p.Ser2688Phe) rs1205473124
NM_206933.4(USH2A):c.8064T>C (p.Ser2688=) rs1456443971
NM_206933.4(USH2A):c.8188C>T (p.Pro2730Ser) rs768532694
NM_206933.4(USH2A):c.8224-6T>G rs1664846600
NM_206933.4(USH2A):c.8262_8264del (p.Leu2755del) rs1553272199
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val)
NM_206933.4(USH2A):c.8318C>T (p.Ser2773Phe) rs1413784848
NM_206933.4(USH2A):c.8324T>G (p.Val2775Gly)
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu) rs2102658782
NM_206933.4(USH2A):c.8390C>T (p.Ser2797Leu) rs756866344
NM_206933.4(USH2A):c.8393G>C (p.Gly2798Ala) rs886044303
NM_206933.4(USH2A):c.849-4A>G rs765189933
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr) rs397518038
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)
NM_206933.4(USH2A):c.8672G>T (p.Gly2891Val) rs1664810364
NM_206933.4(USH2A):c.8682-17A>G rs1553271011
NM_206933.4(USH2A):c.8682-5T>C rs1664495207
NM_206933.4(USH2A):c.8687C>T (p.Thr2896Ile) rs1664494411
NM_206933.4(USH2A):c.8693A>C (p.Tyr2898Ser) rs1553270997
NM_206933.4(USH2A):c.8738G>A (p.Ser2913Asn) rs1664492083
NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp) rs374146074
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu)
NM_206933.4(USH2A):c.8798C>A (p.Ala2933Glu) rs780358747
NM_206933.4(USH2A):c.8845+6_8845+9del rs541344995
NM_206933.4(USH2A):c.8896T>A (p.Ser2966Thr) rs1048801397
NM_206933.4(USH2A):c.895del (p.Gln299fs) rs1338169194
NM_206933.4(USH2A):c.8992T>C (p.Ser2998Pro) rs886043586
NM_206933.4(USH2A):c.899C>T (p.Ser300Leu) rs2037715022
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr) rs1553268568
NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)
NM_206933.4(USH2A):c.9086TCA[2] (p.Ile3031del) rs764038940
NM_206933.4(USH2A):c.9127_9129del (p.Pro3043del) rs760448755
NM_206933.4(USH2A):c.9143G>C (p.Gly3048Ala) rs754391322
NM_206933.4(USH2A):c.9155A>G (p.Glu3052Gly)
NM_206933.4(USH2A):c.920G>T (p.Ser307Ile) rs1553250805
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu) rs1359713084
NM_206933.4(USH2A):c.9275T>G (p.Ile3092Arg) rs373286445
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del) rs773379163
NM_206933.4(USH2A):c.9413G>A (p.Gly3138Asp) rs756163056
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala) rs756163056
NM_206933.4(USH2A):c.950G>A (p.Arg317Gln) rs760741238
NM_206933.4(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln) rs1553265812
NM_206933.4(USH2A):c.9646C>A (p.Leu3216Met) rs368240096
NM_206933.4(USH2A):c.9669TGG[1] (p.Gly3225del) rs756735388
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)
NM_206933.4(USH2A):c.9803G>A (p.Cys3268Tyr) rs1662225145
NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile) rs137876918
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.4(USH2A):c.9921TGG[1] (p.Gly3309del) rs773436260
NM_206933.4(USH2A):c.9962T>C (p.Met3321Thr) rs2102770144

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