NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00066
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
0.00014
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)
|
rs142095945
|
0.00009
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)
|
rs151057466
|
0.00007
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro)
|
rs150822759
|
0.00006
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_206933.4(USH2A):c.12295-3T>A
|
rs111033518
|
0.00006
|
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)
|
rs539192853
|
0.00006
|
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)
|
rs111033419
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)
|
rs184351619
|
0.00005
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)
|
rs201238640
|
0.00004
|
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
|
rs771903291
|
0.00004
|
NM_206933.4(USH2A):c.1972-1G>A
|
rs372927796
|
0.00004
|
NM_206933.4(USH2A):c.486-14G>A
|
rs374536346
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)
|
rs111033280
|
0.00004
|
NM_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00004
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His)
|
rs1380261595
|
0.00004
|
NM_206933.4(USH2A):c.9570+1G>A
|
rs760225886
|
0.00004
|
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr)
|
rs758614136
|
0.00004
|
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
|
rs397517963
|
0.00003
|
NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter)
|
rs749702843
|
0.00003
|
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)
|
rs777465132
|
0.00003
|
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)
|
rs780893919
|
0.00003
|
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)
|
rs397517984
|
0.00003
|
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser)
|
rs141696914
|
0.00003
|
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys)
|
rs746837034
|
0.00003
|
NM_206933.4(USH2A):c.15297+1G>C
|
rs767630412
|
0.00003
|
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)
|
rs111033273
|
0.00003
|
NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter)
|
rs1064793745
|
0.00003
|
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)
|
rs781668118
|
0.00003
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
|
rs1342455785
|
0.00003
|
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)
|
rs398124619
|
0.00003
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
NM_206933.4(USH2A):c.8559-2A>G
|
rs397518039
|
0.00003
|
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)
|
rs766590491
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
|
rs758303489
|
0.00002
|
NM_206933.4(USH2A):c.10820A>C (p.His3607Pro)
|
rs750321557
|
0.00002
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)
|
rs397517979
|
0.00002
|
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)
|
rs759898765
|
0.00002
|
NM_206933.4(USH2A):c.12295-2A>G
|
rs151148854
|
0.00002
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
0.00002
|
NM_206933.4(USH2A):c.1391G>A (p.Arg464His)
|
rs771000800
|
0.00002
|
NM_206933.4(USH2A):c.14344-1G>T
|
rs919142559
|
0.00002
|
NM_206933.4(USH2A):c.14792-2A>G
|
rs137853923
|
0.00002
|
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723
|
0.00002
|
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)
|
rs752377040
|
0.00002
|
NM_206933.4(USH2A):c.1644+1G>A
|
rs912980910
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)
|
rs757154662
|
0.00002
|
NM_206933.4(USH2A):c.3692G>A (p.Ser1231Asn)
|
rs747578300
|
0.00002
|
NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys)
|
rs753908845
|
0.00002
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
0.00002
|
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)
|
rs201529124
|
0.00002
|
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)
|
rs375668376
|
0.00002
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
0.00002
|
NM_206933.4(USH2A):c.6672dup (p.Gly2225fs)
|
rs1284826852
|
0.00002
|
NM_206933.4(USH2A):c.7525C>T (p.Arg2509Trp)
|
rs1394948601
|
0.00002
|
NM_206933.4(USH2A):c.779T>G (p.Leu260Ter)
|
rs121912598
|
0.00002
|
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu)
|
rs748455430
|
0.00002
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_206933.4(USH2A):c.9371+1G>C
|
rs41308425
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NC_000001.10:g.216373413A>G
|
rs794729204
|
0.00001
|
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe)
|
rs770756678
|
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.1055C>T (p.Thr352Ile)
|
rs780308389
|
0.00001
|
NM_206933.4(USH2A):c.10586-2A>G
|
rs370327669
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)
|
rs111033265
|
0.00001
|
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)
|
rs779716464
|
0.00001
|
NM_206933.4(USH2A):c.11047+1G>A
|
rs201730567
|
0.00001
|
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)
|
rs1057519193
|
0.00001
|
NM_206933.4(USH2A):c.11129G>A (p.Gly3710Asp)
|
rs764113446
|
0.00001
|
NM_206933.4(USH2A):c.11389+1G>T
|
rs368770647
|
0.00001
|
NM_206933.4(USH2A):c.11389+3A>T
|
rs753886165
|
0.00001
|
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)
|
rs111033395
|
0.00001
|
NM_206933.4(USH2A):c.11473del (p.His3825fs)
|
rs774677256
|
0.00001
|
NM_206933.4(USH2A):c.11516del (p.Gln3839fs)
|
rs1558078416
|
0.00001
|
NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu)
|
rs1660298900
|
0.00001
|
NM_206933.4(USH2A):c.1172G>T (p.Ser391Ile)
|
rs949082769
|
0.00001
|
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)
|
rs1358947010
|
0.00001
|
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)
|
rs1431048303
|
0.00001
|
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)
|
rs397517976
|
0.00001
|
NM_206933.4(USH2A):c.12067-1G>A
|
rs397517977
|
0.00001
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
0.00001
|
NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter)
|
rs1262416703
|
0.00001
|
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)
|
rs1064793289
|
0.00001
|
NM_206933.4(USH2A):c.12283G>A (p.Gly4095Ser)
|
rs1315543696
|
0.00001
|
NM_206933.4(USH2A):c.12356T>C (p.Phe4119Ser)
|
rs776587395
|
0.00001
|
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)
|
rs1172628170
|
0.00001
|
NM_206933.4(USH2A):c.12469dup (p.Ser4157fs)
|
rs773417196
|
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.12739G>A (p.Gly4247Arg)
|
rs397517982
|
0.00001
|
NM_206933.4(USH2A):c.12958G>C (p.Asp4320His)
|
rs140202956
|
0.00001
|
NM_206933.4(USH2A):c.12992A>G (p.Tyr4331Cys)
|
rs1423233510
|
0.00001
|
NM_206933.4(USH2A):c.13084C>T (p.Pro4362Ser)
|
rs763301021
|
0.00001
|
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313
|
0.00001
|
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)
|
rs111033385
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu)
|
rs762388072
|
0.00001
|
NM_206933.4(USH2A):c.13381G>T (p.Glu4461Ter)
|
rs553833861
|
0.00001
|
NM_206933.4(USH2A):c.13392G>A (p.Trp4464Ter)
|
rs1219505844
|
0.00001
|
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys)
|
rs921800139
|
0.00001
|
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala)
|
rs774759345
|
0.00001
|
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)
|
rs1003869920
|
0.00001
|
NM_206933.4(USH2A):c.13742del (p.His4581fs)
|
rs1476222580
|
0.00001
|
NM_206933.4(USH2A):c.13811+1G>A
|
rs1177257719
|
0.00001
|
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val)
|
rs1553250627
|
0.00001
|
NM_206933.4(USH2A):c.14134-3169A>G
|
rs998302546
|
0.00001
|
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser)
|
rs1254637647
|
0.00001
|
NM_206933.4(USH2A):c.14294T>C (p.Val4765Ala)
|
rs763127023
|
0.00001
|
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)
|
rs199851839
|
0.00001
|
NM_206933.4(USH2A):c.14406_14407insTC (p.Ile4803fs)
|
rs1656944247
|
0.00001
|
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)
|
rs770553471
|
0.00001
|
NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter)
|
rs1656936749
|
0.00001
|
NM_206933.4(USH2A):c.14791+5G>T
|
rs1235430504
|
0.00001
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
0.00001
|
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
NM_206933.4(USH2A):c.14996C>T (p.Thr4999Ile)
|
rs1407860955
|
0.00001
|
NM_206933.4(USH2A):c.15200del (p.Ile5067fs)
|
rs1295968274
|
0.00001
|
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)
|
rs527236122
|
0.00001
|
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val)
|
rs1415484067
|
0.00001
|
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590
|
0.00001
|
NM_206933.4(USH2A):c.172T>C (p.Cys58Arg)
|
rs2039689429
|
0.00001
|
NM_206933.4(USH2A):c.1841-2A>G
|
rs397518003
|
0.00001
|
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter)
|
rs781223647
|
0.00001
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00001
|
NM_206933.4(USH2A):c.2139C>T (p.Gly713=)
|
rs765293412
|
0.00001
|
NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter)
|
rs1364987785
|
0.00001
|
NM_206933.4(USH2A):c.2168-1G>C
|
rs748961218
|
0.00001
|
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00001
|
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)
|
rs886039449
|
0.00001
|
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)
|
rs397518011
|
0.00001
|
NM_206933.4(USH2A):c.3317-2A>G
|
rs2034951427
|
0.00001
|
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)
|
rs775177930
|
0.00001
|
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg)
|
rs1064793287
|
0.00001
|
NM_206933.4(USH2A):c.3812-2A>G
|
rs758733024
|
0.00001
|
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)
|
rs764797292
|
0.00001
|
NM_206933.4(USH2A):c.4086del (p.Val1363fs)
|
rs2034854568
|
0.00001
|
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
|
rs751479180
|
0.00001
|
NM_206933.4(USH2A):c.4325T>C (p.Phe1442Ser)
|
rs766108245
|
0.00001
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)
|
rs769198746
|
0.00001
|
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)
|
rs745350407
|
0.00001
|
NM_206933.4(USH2A):c.4837dup (p.Ile1613fs)
|
rs2032220637
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)
|
rs754374132
|
0.00001
|
NM_206933.4(USH2A):c.5298+5G>A
|
rs1176314553
|
0.00001
|
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)
|
rs770329105
|
0.00001
|
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)
|
rs1171672823
|
0.00001
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys)
|
rs752992414
|
0.00001
|
NM_206933.4(USH2A):c.5572+1G>A
|
rs775293551
|
0.00001
|
NM_206933.4(USH2A):c.5573-834A>G
|
rs1558244152
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter)
|
rs751130485
|
0.00001
|
NM_206933.4(USH2A):c.6050-1G>A
|
rs1035024403
|
0.00001
|
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)
|
rs111033386
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter)
|
rs769609970
|
0.00001
|
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe)
|
rs748983904
|
0.00001
|
NM_206933.4(USH2A):c.6956del (p.Leu2319fs)
|
rs1201446573
|
0.00001
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
NM_206933.4(USH2A):c.7301-1G>A
|
rs1438496892
|
0.00001
|
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter)
|
rs200712760
|
0.00001
|
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
|
rs1424639717
|
0.00001
|
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)
|
rs1064797134
|
0.00001
|
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)
|
rs749452910
|
0.00001
|
NM_206933.4(USH2A):c.8681+1G>A
|
rs876657733
|
0.00001
|
NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys)
|
rs1369414978
|
0.00001
|
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter)
|
rs760302201
|
0.00001
|
NM_206933.4(USH2A):c.8845+2T>G
|
rs1441350225
|
0.00001
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
NM_206933.4(USH2A):c.9056-2A>G
|
rs754970095
|
0.00001
|
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser)
|
rs748465849
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)
|
rs200382994
|
0.00001
|
NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter)
|
rs397518046
|
0.00001
|
NM_206933.4(USH2A):c.9372-1G>A
|
rs1558111861
|
0.00001
|
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)
|
rs267598373
|
0.00001
|
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)
|
rs772100045
|
0.00001
|
NM_206933.4(USH2A):c.9676C>T (p.Arg3226Ter)
|
rs760858249
|
0.00001
|
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)
|
rs111033263
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NM_206933.4(USH2A):c.9912dup (p.Glu3305fs)
|
rs759255743
|
0.00001
|
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr)
|
rs983763783
|
0.00001
|
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)
|
rs141672841
|
0.00001
|
GRCh37/hg19 1q41(chr1:216138660-216270555)
|
|
|
GRCh37/hg19 1q41(chr1:216212155-216234471)x1
|
|
|
GRCh37/hg19 1q41(chr1:216355508-216417771)x1
|
|
|
NC_000001.10:g.(216462753_216465516)_(216465713_216495224)del
|
|
|
NC_000001.10:g.(?_215799113)_(215802387_?)del
|
|
|
NC_000001.10:g.(?_215799113)_(215853728_?)del
|
|
|
NC_000001.10:g.(?_215799123)_(215844655_?)del
|
|
|
NC_000001.10:g.(?_215799123)_(216538447_?)del
|
|
|
NC_000001.10:g.(?_215807781)_(215812600_?)del
|
|
|
NC_000001.10:g.(?_215823914)_(215824163_?)del
|
|
|
NC_000001.10:g.(?_215844294)_(215848978_?)del
|
|
|
NC_000001.10:g.(?_215844304)_(216270565_?)del
|
|
|
NC_000001.10:g.(?_215844314)_(215853718_?)del
|
|
|
NC_000001.10:g.(?_215847422)_(215901746_?)del
|
|
|
NC_000001.10:g.(?_215853471)_(215853738_?)del
|
|
|
NC_000001.10:g.(?_215853471)_(215956297_?)del
|
|
|
NC_000001.10:g.(?_215901362)_(215901736_?)del
|
|
|
NC_000001.10:g.(?_215901362)_(215940140_?)del
|
|
|
NC_000001.10:g.(?_215914697)_(215933205_?)dup
|
|
|
NC_000001.10:g.(?_215914707)_(215933195_?)dup
|
|
|
NC_000001.10:g.(?_215940003)_(216108157_?)del
|
|
|
NC_000001.10:g.(?_215940023)_(216108137_?)del
|
|
|
NC_000001.10:g.(?_215953165)_(216270575_?)del
|
|
|
NC_000001.10:g.(?_215960002)_(215960226_?)del
|
|
|
NC_000001.10:g.(?_215972229)_(216270575_?)del
|
|
|
NC_000001.10:g.(?_215972239)_(216074257_?)del
|
|
|
NC_000001.10:g.(?_215987058)_(215987266_?)del
|
|
|
NC_000001.10:g.(?_215987058)_(216019395_?)del
|
|
|
NC_000001.10:g.(?_215987078)_(216019375_?)del
|
|
|
NC_000001.10:g.(?_216003270)_(216011369_?)del
|
|
|
NC_000001.10:g.(?_216011313)_(216011465_?)del
|
|
|
NC_000001.10:g.(?_216011313)_(216017858_?)del
|
|
|
NC_000001.10:g.(?_216011313)_(216074267_?)del
|
|
|
NC_000001.10:g.(?_216017616)_(216019395_?)del
|
|
|
NC_000001.10:g.(?_216017626)_(216017848_?)del
|
|
|
NC_000001.10:g.(?_216039721)_(216064540_?)del
|
|
|
NC_000001.10:g.(?_216051090)_(216052450_?)del
|
|
|
NC_000001.10:g.(?_216061748)_(216074267_?)del
|
|
|
NC_000001.10:g.(?_216061748)_(216270575_?)del
|
|
|
NC_000001.10:g.(?_216107938)_(216173924_?)del
|
|
|
NC_000001.10:g.(?_216138639)_(216173924_?)del
|
|
|
NC_000001.10:g.(?_216164627)_(216166453_?)del
|
|
|
NC_000001.10:g.(?_216166342)_(216260182_?)del
|
|
|
NC_000001.10:g.(?_216166342)_(216538447_?)del
|
|
|
NC_000001.10:g.(?_216166352)_(216173914_?)del
|
|
|
NC_000001.10:g.(?_216166362)_(216166509_?)del
|
|
|
NC_000001.10:g.(?_216172219)_(216173914_?)del
|
|
|
NC_000001.10:g.(?_216172699)_216173911del
|
|
|
NC_000001.10:g.(?_216173735)_(216348834_?)del
|
|
|
NC_000001.10:g.(?_216221876)_(216270555_?)del
|
|
|
NC_000001.10:g.(?_216243423)_(216262501_?)del
|
|
|
NC_000001.10:g.(?_216243423)_(216538447_?)del
|
|
|
NC_000001.10:g.(?_216251421)_(216258229_?)del
|
|
|
NC_000001.10:g.(?_216256788)_(216270565_?)del
|
|
|
NC_000001.10:g.(?_216260041)_(216262501_?)del
|
|
|
NC_000001.10:g.(?_216260041)_(216270575_?)del
|
|
|
NC_000001.10:g.(?_216260061)_(216270555_?)del
|
|
|
NC_000001.10:g.(?_216270405)_(216424460_?)del
|
|
|
NC_000001.10:g.(?_216348574)_(216348844_?)del
|
|
|
NC_000001.10:g.(?_216348574)_(216363729_?)del
|
|
|
NC_000001.10:g.(?_216348574)_(216373483_?)del
|
|
|
NC_000001.10:g.(?_216348574)_(216390912_?)del
|
|
|
NC_000001.10:g.(?_216348574)_(216405498_?)del
|
|
|
NC_000001.10:g.(?_216348580)_(216348824_?)del
|
|
|
NC_000001.10:g.(?_216363555)_(216363719_?)del
|
|
|
NC_000001.10:g.(?_216363555)_(216390902_?)del
|
|
|
NC_000001.10:g.(?_216363555)_(216405488_?)del
|
|
|
NC_000001.10:g.(?_216363565)_(216373463_?)del
|
|
|
NC_000001.10:g.(?_216363595)_(216374941_?)del
|
|
|
NC_000001.10:g.(?_216369875)_(216373483_?)del
|
|
|
NC_000001.10:g.(?_216369875)_(216424460_?)del
|
|
|
NC_000001.10:g.(?_216380605)_(216424450_?)del
|
|
|
NC_000001.10:g.(?_216405285)_(216405488_?)del
|
|
|
NC_000001.10:g.(?_216419917)_(216501006_?)del
|
|
|
NC_000001.10:g.(?_216465497)_(216465732_?)del
|
|
|
NC_000001.10:g.(?_216495205)_(216497057_?)del
|
|
|
NC_000001.10:g.(?_216495205)_(216501016_?)del
|
|
|
NC_000001.10:g.(?_216495215)_(216498951_?)del
|
|
|
NC_000001.10:g.(?_216495225)_(216500996_?)del
|
|
|
NC_000001.10:g.(?_216497583)_(216503303_?)del
|
|
|
NC_000001.10:g.(?_216538275)_(216596610_?)del
|
|
|
NC_000001.10:g.(?_216595184)_(216596610_?)del
|
|
|
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
|
|
|
NC_000001.11:g.(?_215670962)_(215671303_?)del
|
|
|
NC_000001.11:g.(?_215670962)_(215675626_?)del
|
|
|
NC_000001.11:g.(?_215813726)_(215817205_?)del
|
|
|
NC_000001.11:g.(?_215837981)_(215838113_?)del
|
|
|
NC_000001.11:g.(?_215837981)_(215846043_?)del
|
|
|
NC_000001.11:g.(?_215837991)_(215844496_?)dup
|
|
|
NC_000001.11:g.(?_215837991)_(215846033_?)del
|
|
|
NC_000001.11:g.(?_215993010)_(215993177_?)del
|
|
|
NC_000001.11:g.(?_216070101)_(216097213_?)del
|
|
|
NC_000001.11:g.(?_216078079)_(216078372_?)del
|
|
|
NC_000001.11:g.(?_216086709)_(216097223_?)del
|
|
|
NC_000001.11:g.(?_216089003)_(216097223_?)del
|
|
|
NC_000001.11:g.(?_216097073)_(216097223_?)del
|
|
|
NC_000001.11:g.(?_216175228)_(216175492_?)del
|
|
|
NC_000001.11:g.(?_216217387)_(216292370_?)del
|
|
|
NC_000001.11:g.(?_216250893)_(216251108_?)del
|
|
|
NC_000001.11:g.(?_216270461)_(216260162_?)del
|
|
|
NC_000001.11:g.(?_216289280)_(216292370_?)del
|
|
|
NC_000001.11:g.(?_216292165)_(216327664_?)del
|
|
|
NC_000001.11:g.(?_216321873)_(216327664_?)del
|
|
|
NC_000001.11:g.(?_216364953)_(216365085_?)del
|
|
|
NC_000001.11:g.216083590_216083591insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCAGGAACCCTTT
|
|
|
NC_000001.11:g.216418542_216418680del
|
rs2102783758
|
|
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter)
|
rs730880349
|
|
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)
|
rs727503731
|
|
NM_206933.2(USH2A):c.(4758+1_4759-1)_(5298+1_5299-1)del
|
|
|
NM_206933.2(USH2A):c.(?_1645)_(1840_?)del
|
|
|
NM_206933.2(USH2A):c.(?_4628)_(4987_?)del
|
|
|
NM_206933.2(USH2A):c.(?_4628)_(9371_?)del
|
|
|
NM_206933.2(USH2A):c.(?_5299)_(5572_?)del
|
|
|
NM_206933.2(USH2A):c.(?_5299)_(5572_?)del (p.(?))
|
|
|
NM_206933.2(USH2A):c.(?_7301)_(8223_?)del
|
|
|
NM_206933.2(USH2A):c.(?_785)_(1840_?)del
|
|
|
NM_206933.2(USH2A):c.(?_8682)_(8845_?)del
|
|
|
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs)
|
rs1064797133
|
|
NM_206933.2(USH2A):c.11048-?_11711+?dup
|
|
|
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs)
|
rs774573692
|
|
NM_206933.2(USH2A):c.850_853delGAGA
|
|
|
NM_206933.2(USH2A):c.[12394del;14074G>A]
|
|
|
NM_206933.2(USH2A):c.[2299del;4714C>T]
|
|
|
NM_206933.2(USH2A):c.[240_241insGTAC];[3368A>G]
|
|
|
NM_206933.2:c.(11711+1_11712-1)_(*1_?)del
|
|
|
NM_206933.3(USH2A):c.12295-?_14133+?del
|
|
|
NM_206933.4(USH2A):c.10071del (p.Lys3357fs)
|
rs2102769969
|
|
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter)
|
rs1403618793
|
|
NM_206933.4(USH2A):c.10096_10097del (p.Lys3366fs)
|
rs2102769946
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
NM_206933.4(USH2A):c.10102C>T (p.Gln3368Ter)
|
|
|
NM_206933.4(USH2A):c.10159del (p.Ile3387fs)
|
|
|
NM_206933.4(USH2A):c.10183-2A>G
|
rs1661818720
|
|
NM_206933.4(USH2A):c.10183G>T (p.Glu3395Ter)
|
rs2102767109
|
|
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)
|
rs397517964
|
|
NM_206933.4(USH2A):c.10192G>T (p.Glu3398Ter)
|
|
|
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter)
|
rs1183957540
|
|
NM_206933.4(USH2A):c.10209C>A (p.Cys3403Ter)
|
|
|
NM_206933.4(USH2A):c.10211del (p.Pro3404fs)
|
rs1571686349
|
|
NM_206933.4(USH2A):c.1026_1029del (p.Ser343fs)
|
rs1458938381
|
|
NM_206933.4(USH2A):c.10314del (p.Ser3439fs)
|
rs2102766886
|
|
NM_206933.4(USH2A):c.10318del (p.Ile3440fs)
|
rs1553261898
|
|
NM_206933.4(USH2A):c.10324G>T (p.Glu3442Ter)
|
rs1388161283
|
|
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
|
|
|
NM_206933.4(USH2A):c.10350dup (p.Ile3451fs)
|
rs2102766834
|
|
NM_206933.4(USH2A):c.10380_10381del (p.Tyr3461fs)
|
rs2102766786
|
|
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile)
|
rs1416602859
|
|
NM_206933.4(USH2A):c.10388-1G>A
|
rs1553261478
|
|
NM_206933.4(USH2A):c.10388-1G>C
|
rs1553261478
|
|
NM_206933.4(USH2A):c.10388-2A>G
|
rs1553261479
|
|
NM_206933.4(USH2A):c.1039G>C (p.Asp347His)
|
rs772317024
|
|
NM_206933.4(USH2A):c.1039_1041del (p.Asp347del)
|
rs1553250786
|
|
NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter)
|
rs1661687852
|
|
NM_206933.4(USH2A):c.10437G>A (p.Trp3479Ter)
|
rs1308924086
|
|
NM_206933.4(USH2A):c.10446T>A (p.Tyr3482Ter)
|
rs767501966
|
|
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
|
rs111033379
|
|
NM_206933.4(USH2A):c.10464del (p.Ala3489fs)
|
|
|
NM_206933.4(USH2A):c.10466del (p.Ala3489fs)
|
|
|
NM_206933.4(USH2A):c.10495C>A (p.Pro3499Thr)
|
rs1553261461
|
|
NM_206933.4(USH2A):c.10498C>T (p.Gln3500Ter)
|
|
|
NM_206933.4(USH2A):c.10502_10535dup (p.Asn3512fs)
|
rs2102763421
|
|
NM_206933.4(USH2A):c.10513_10514del (p.Pro3505fs)
|
|
|
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)
|
rs944675223
|
|
NM_206933.4(USH2A):c.10544A>G (p.Asp3515Gly)
|
rs527236119
|
|
NM_206933.4(USH2A):c.10561T>A (p.Trp3521Arg)
|
rs111033264
|
|
NM_206933.4(USH2A):c.10569dup (p.Pro3524fs)
|
|
|
NM_206933.4(USH2A):c.10576C>T (p.Gln3526Ter)
|
|
|
NM_206933.4(USH2A):c.10585+1G>A
|
rs2102763351
|
|
NM_206933.4(USH2A):c.10585+3A>G
|
rs2102763350
|
|
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)
|
rs111033439
|
|
NM_206933.4(USH2A):c.10593del (p.Ile3532fs)
|
|
|
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)
|
rs878853413
|
|
NM_206933.4(USH2A):c.10626del (p.Glu3542fs)
|
rs1558095403
|
|
NM_206933.4(USH2A):c.10627_10628insA (p.Arg3543fs)
|
rs1661662091
|
|
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg)
|
rs1553261372
|
|
NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter)
|
rs1553261372
|
|
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn)
|
rs910086490
|
|
NM_206933.4(USH2A):c.10666G>T (p.Gly3556Ter)
|
rs1661660762
|
|
NM_206933.4(USH2A):c.10689T>A (p.Tyr3563Ter)
|
|
|
NM_206933.4(USH2A):c.10690_10693dup (p.Tyr3565fs)
|
rs2102762663
|
|
NM_206933.4(USH2A):c.10691C>G (p.Ser3564Ter)
|
|
|
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
|
rs1661659605
|
|
NM_206933.4(USH2A):c.10702A>T (p.Lys3568Ter)
|
|
|
NM_206933.4(USH2A):c.10714del (p.Val3572fs)
|
|
|
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val)
|
rs1259758261
|
|
NM_206933.4(USH2A):c.10741-1G>T
|
rs1064795279
|
|
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)
|
rs111033418
|
|
NM_206933.4(USH2A):c.10817T>C (p.Leu3606Pro)
|
|
|
NM_206933.4(USH2A):c.10829G>A (p.Trp3610Ter)
|
rs2102760660
|
|
NM_206933.4(USH2A):c.10830G>A (p.Trp3610Ter)
|
|
|
NM_206933.4(USH2A):c.10845_10851del (p.Ser3616fs)
|
rs1661579382
|
|
NM_206933.4(USH2A):c.10861A>T (p.Lys3621Ter)
|
|
|
NM_206933.4(USH2A):c.10869_10871del (p.Tyr3623_Gln3624delinsTer)
|
rs1167455690
|
|
NM_206933.4(USH2A):c.10924C>T (p.Gln3642Ter)
|
|
|
NM_206933.4(USH2A):c.10934_10935dup (p.Thr3646fs)
|
|
|
NM_206933.4(USH2A):c.10939+2T>G
|
|
|
NM_206933.4(USH2A):c.10962C>A (p.Tyr3654Ter)
|
rs1661141590
|
|
NM_206933.4(USH2A):c.10982del (p.Cys3661fs)
|
rs2102748161
|
|
NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter)
|
rs1661140054
|
|
NM_206933.4(USH2A):c.11048-1G>A
|
rs111033414
|
|
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter)
|
rs41314534
|
|
NM_206933.4(USH2A):c.11074del (p.Ile3692fs)
|
rs1660926805
|
|
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter)
|
rs755804518
|
|
NM_206933.4(USH2A):c.110del (p.Phe37fs)
|
|
|
NM_206933.4(USH2A):c.11103T>A (p.Tyr3701Ter)
|
rs143453173
|
|
NM_206933.4(USH2A):c.11106G>A (p.Trp3702Ter)
|
rs2102742278
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.11145T>A (p.Tyr3715Ter)
|
rs727504608
|
|
NM_206933.4(USH2A):c.11146C>T (p.Gln3716Ter)
|
rs771260365
|
|
NM_206933.4(USH2A):c.11174del (p.Phe3725fs)
|
rs1571657875
|
|
NM_206933.4(USH2A):c.11189del (p.Glu3730fs)
|
rs1660922779
|
|
NM_206933.4(USH2A):c.11194C>T (p.Gln3732Ter)
|
|
|
NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs)
|
rs1571657777
|
|
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter)
|
rs768062696
|
|
NM_206933.4(USH2A):c.1126G>T (p.Glu376Ter)
|
rs2102655719
|
|
NM_206933.4(USH2A):c.11288_11295del (p.Tyr3763fs)
|
rs2102741288
|
|
NM_206933.4(USH2A):c.11289C>A (p.Tyr3763Ter)
|
|
|
NM_206933.4(USH2A):c.1130del (p.Asn377fs)
|
|
|
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)
|
rs749726310
|
|
NM_206933.4(USH2A):c.11328T>G (p.Tyr3776Ter)
|
|
|
NM_206933.4(USH2A):c.11336del (p.Tyr3779fs)
|
rs762070900
|
|
NM_206933.4(USH2A):c.1135C>T (p.Gln379Ter)
|
|
|
NM_206933.4(USH2A):c.11361T>A (p.Tyr3787Ter)
|
rs1660884486
|
|
NM_206933.4(USH2A):c.11389+1G>A
|
rs368770647
|
|
NM_206933.4(USH2A):c.11389+1del
|
rs1414935620
|
|
NM_206933.4(USH2A):c.11389+2T>C
|
rs1192810508
|
|
NM_206933.4(USH2A):c.11389+2T>G
|
|
|
NM_206933.4(USH2A):c.11390-1G>A
|
rs2102727580
|
|
NM_206933.4(USH2A):c.11411del (p.Pro3804fs)
|
rs397517973
|
|
NM_206933.4(USH2A):c.11416G>T (p.Glu3806Ter)
|
|
|
NM_206933.4(USH2A):c.11421C>A (p.Tyr3807Ter)
|
|
|
NM_206933.4(USH2A):c.1143+1G>A
|
rs397517974
|
|
NM_206933.4(USH2A):c.1143+2T>G
|
|
|
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs)
|
rs1553257705
|
|
NM_206933.4(USH2A):c.1144-2A>T
|
rs2037686445
|
|
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)
|
rs727505337
|
|
NM_206933.4(USH2A):c.11488_11492del (p.Leu3830fs)
|
|
|
NM_206933.4(USH2A):c.11515C>T (p.Gln3839Ter)
|
rs2102727387
|
|
NM_206933.4(USH2A):c.1152T>G (p.Tyr384Ter)
|
|
|
NM_206933.4(USH2A):c.11533C>T (p.Gln3845Ter)
|
|
|
NM_206933.4(USH2A):c.1153_1157del (p.Ile385fs)
|
rs2102654383
|
|
NM_206933.4(USH2A):c.11548+2T>G
|
rs1371160062
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
NM_206933.4(USH2A):c.11549-1G>T
|
|
|
NM_206933.4(USH2A):c.11549del
|
rs1660304704
|
|
NM_206933.4(USH2A):c.11556T>A (p.Cys3852Ter)
|
|
|
NM_206933.4(USH2A):c.11564del (p.Ser3855fs)
|
|
|
NM_206933.4(USH2A):c.11566del (p.Ser3856fs)
|
|
|
NM_206933.4(USH2A):c.11639C>A (p.Ser3880Ter)
|
|
|
NM_206933.4(USH2A):c.11660G>A (p.Trp3887Ter)
|
rs1660298900
|
|
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys)
|
rs1386612395
|
|
NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe)
|
rs1386612395
|
|
NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter)
|
rs1553257498
|
|
NM_206933.4(USH2A):c.11709C>G (p.Tyr3903Ter)
|
rs1325668081
|
|
NM_206933.4(USH2A):c.11724_11725del (p.Gly3908_Ile3909insTer)
|
rs1659895310
|
|
NM_206933.4(USH2A):c.11745_11748del (p.Phe3916fs)
|
rs2102713794
|
|
NM_206933.4(USH2A):c.11756C>G (p.Ser3919Ter)
|
|
|
NM_206933.4(USH2A):c.11770G>T (p.Glu3924Ter)
|
|
|
NM_206933.4(USH2A):c.11806A>C (p.Thr3936Pro)
|
rs2102713705
|
|
NM_206933.4(USH2A):c.11811_11812del (p.Tyr3938fs)
|
|
|
NM_206933.4(USH2A):c.11815_11816dup (p.Tyr3940fs)
|
rs2102713688
|
|
NM_206933.4(USH2A):c.11816_11822dup (p.Val3942fs)
|
rs1659891151
|
|
NM_206933.4(USH2A):c.11824del (p.Val3942fs)
|
|
|
NM_206933.4(USH2A):c.11824dup (p.Val3942fs)
|
rs1659891000
|
|
NM_206933.4(USH2A):c.11829_11851del (p.Arg3943fs)
|
rs2102713621
|
|
NM_206933.4(USH2A):c.11867C>G (p.Ser3956Ter)
|
rs754104931
|
|
NM_206933.4(USH2A):c.11875C>T (p.Gln3959Ter)
|
rs2102713573
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.11881_11882del (p.Leu3961fs)
|
|
|
NM_206933.4(USH2A):c.11897_12003del (p.Gln3966fs)
|
rs1659881415
|
|
NM_206933.4(USH2A):c.1190T>A (p.Ile397Lys)
|
|
|
NM_206933.4(USH2A):c.11955G>A (p.Trp3985Ter)
|
rs942584750
|
|
NM_206933.4(USH2A):c.12006C>A (p.Tyr4002Ter)
|
rs2102713360
|
|
NM_206933.4(USH2A):c.12067-1G>C
|
rs397517977
|
|
NM_206933.4(USH2A):c.12067-2A>C
|
|
|
NM_206933.4(USH2A):c.12085del (p.His4029fs)
|
|
|
NM_206933.4(USH2A):c.12086dup (p.His4029fs)
|
|
|
NM_206933.4(USH2A):c.12093C>A (p.Tyr4031Ter)
|
rs55921307
|
|
NM_206933.4(USH2A):c.12093del (p.Leu4030_Tyr4031insTer)
|
rs1658186071
|
|
NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg)
|
rs908265742
|
|
NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val)
|
rs878853409
|
|
NM_206933.4(USH2A):c.12100G>T (p.Glu4034Ter)
|
rs794729203
|
|
NM_206933.4(USH2A):c.12104C>T (p.Pro4035Leu)
|
|
|
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs)
|
rs1571953449
|
|
NM_206933.4(USH2A):c.1214del (p.Asn405fs)
|
rs750228923
|
|
NM_206933.4(USH2A):c.12154del (p.Ile4052fs)
|
|
|
NM_206933.4(USH2A):c.12164del (p.Pro4055fs)
|
rs2102671802
|
|
NM_206933.4(USH2A):c.12172_12174delinsTAAA (p.Leu4058Ter)
|
|
|
NM_206933.4(USH2A):c.12202G>T (p.Gly4068Ter)
|
rs1430838005
|
|
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)
|
rs988693758
|
|
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)
|
rs398124618
|
|
NM_206933.4(USH2A):c.12253dup (p.Leu4085fs)
|
|
|
NM_206933.4(USH2A):c.12269C>G (p.Pro4090Arg)
|
rs1658178709
|
|
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)
|
rs2037682180
|
|
NM_206933.4(USH2A):c.12274del (p.Arg4092fs)
|
rs1558051141
|
|
NM_206933.4(USH2A):c.1228G>T (p.Glu410Ter)
|
rs1571702193
|
|
NM_206933.4(USH2A):c.12294+1G>C
|
rs111033526
|
|
NM_206933.4(USH2A):c.12294+2T>C
|
rs2102671641
|
|
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)
|
rs1657997730
|
|
NM_206933.4(USH2A):c.12300C>G (p.Tyr4100Ter)
|
rs1657997730
|
|
NM_206933.4(USH2A):c.12313_12319del (p.Asp4105fs)
|
|
|
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)
|
rs1657996197
|
|
NM_206933.4(USH2A):c.1234T>A (p.Trp412Arg)
|
|
|
NM_206933.4(USH2A):c.1236G>C (p.Trp412Cys)
|
rs757525434
|
|
NM_206933.4(USH2A):c.12381_12382del (p.Tyr4128fs)
|
rs2102667069
|
|
NM_206933.4(USH2A):c.12394del (p.Leu4132fs)
|
rs1558049084
|
|
NM_206933.4(USH2A):c.12409del (p.Arg4137fs)
|
rs1657992342
|
|
NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly)
|
rs1657992030
|
|
NM_206933.4(USH2A):c.12472C>T (p.Gln4158Ter)
|
rs2102666887
|
|
NM_206933.4(USH2A):c.12497_13811+148del
|
|
|
NM_206933.4(USH2A):c.12523_12532del (p.Trp4175fs)
|
rs2102666781
|
|
NM_206933.4(USH2A):c.12525G>A (p.Trp4175Ter)
|
rs1657987278
|
|
NM_206933.4(USH2A):c.12525G>T (p.Trp4175Cys)
|
rs1657987278
|
|
NM_206933.4(USH2A):c.12599G>A (p.Trp4200Ter)
|
|
|
NM_206933.4(USH2A):c.12641del (p.Thr4214fs)
|
|
|
NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter)
|
rs1057517844
|
|
NM_206933.4(USH2A):c.12695C>T (p.Pro4232Leu)
|
|
|
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)
|
rs764917754
|
|
NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter)
|
rs1657976232
|
|
NM_206933.4(USH2A):c.12708T>A (p.Cys4236Ter)
|
|
|
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter)
|
rs397517981
|
|
NM_206933.4(USH2A):c.12728G>A (p.Trp4243Ter)
|
rs2102666433
|
|
NM_206933.4(USH2A):c.12743_12747del (p.His4248fs)
|
|
|
NM_206933.4(USH2A):c.12759G>A (p.Trp4253Ter)
|
rs1657973895
|
|
NM_206933.4(USH2A):c.12759_12768del (p.Ser4252_Trp4253insTer)
|
|
|
NM_206933.4(USH2A):c.12794del (p.Gly4265fs)
|
rs1571949264
|
|
NM_206933.4(USH2A):c.12801_12802dup (p.Pro4268fs)
|
rs2102666300
|
|
NM_206933.4(USH2A):c.12806C>A (p.Pro4269His)
|
|
|
NM_206933.4(USH2A):c.12809_12810del (p.Val4270fs)
|
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.12854G>A (p.Trp4285Ter)
|
rs766491471
|
|
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter)
|
rs1657965422
|
|
NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs)
|
rs1553252469
|
|
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)
|
rs397517983
|
|
NM_206933.4(USH2A):c.12886C>T (p.Gln4296Ter)
|
rs2102666136
|
|
NM_206933.4(USH2A):c.12892T>A (p.Tyr4298Asn)
|
rs1064797130
|
|
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)
|
rs762159022
|
|
NM_206933.4(USH2A):c.12979del (p.Ser4327fs)
|
rs1657955465
|
|
NM_206933.4(USH2A):c.12987T>G (p.Tyr4329Ter)
|
rs1203365063
|
|
NM_206933.4(USH2A):c.13000C>T (p.Gln4334Ter)
|
rs367850936
|
|
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)
|
rs527236137
|
|
NM_206933.4(USH2A):c.13016del (p.Gly4339fs)
|
rs2102665932
|
|
NM_206933.4(USH2A):c.13022G>T (p.Cys4341Phe)
|
rs397517985
|
|
NM_206933.4(USH2A):c.13040_13062delinsTCAGAAGTCA (p.Thr4347fs)
|
rs1657950450
|
|
NM_206933.4(USH2A):c.13070C>G (p.Ser4357Ter)
|
|
|
NM_206933.4(USH2A):c.13128G>A (p.Trp4376Ter)
|
rs1349682845
|
|
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs)
|
rs1415157305
|
|
NM_206933.4(USH2A):c.13131del (p.Pro4378fs)
|
rs2102665766
|
|
NM_206933.4(USH2A):c.13137del (p.Thr4380fs)
|
|
|
NM_206933.4(USH2A):c.13187_13188del (p.Lys4396fs)
|
|
|
NM_206933.4(USH2A):c.13204C>T (p.Gln4402Ter)
|
|
|
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
|
rs746447649
|
|
NM_206933.4(USH2A):c.13210del (p.Leu4404fs)
|
rs1190020491
|
|
NM_206933.4(USH2A):c.13215C>A (p.Cys4405Ter)
|
rs370176892
|
|
NM_206933.4(USH2A):c.13256del (p.Phe4419fs)
|
|
|
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)
|
rs1057517533
|
|
NM_206933.4(USH2A):c.13272C>A (p.Cys4424Ter)
|
rs1657939866
|
|
NM_206933.4(USH2A):c.1328+1G>C
|
|
|
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val)
|
rs1234273599
|
|
NM_206933.4(USH2A):c.13286_13302del (p.Gly4428_Cys4429insTer)
|
rs2102665496
|
|
NM_206933.4(USH2A):c.13296del (p.Ser4432fs)
|
rs2102665526
|
|
NM_206933.4(USH2A):c.13305del (p.Lys4435fs)
|
|
|
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter)
|
rs111033417
|
|
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
|
rs775556188
|
|
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del)
|
rs111033408
|
|
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)
|
rs1553252388
|
|
NM_206933.4(USH2A):c.13337del (p.Asn4446fs)
|
|
|
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13365dup (p.Gly4456fs)
|
|
|
NM_206933.4(USH2A):c.13370C>G (p.Ser4457Ter)
|
rs2102665356
|
|
NM_206933.4(USH2A):c.13372_13387del (p.Glu4458fs)
|
rs2102665328
|
|
NM_206933.4(USH2A):c.13374del (p.Glu4458fs)
|
rs727503715
|
|
NM_206933.4(USH2A):c.13391G>A (p.Trp4464Ter)
|
|
|
NM_206933.4(USH2A):c.13393A>T (p.Lys4465Ter)
|
rs2102665314
|
|
NM_206933.4(USH2A):c.13417C>T (p.Gln4473Ter)
|
rs2102665279
|
|
NM_206933.4(USH2A):c.13419_13420del (p.Gln4473fs)
|
rs2102665272
|
|
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)
|
rs1293619630
|
|
NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)
|
rs1657929865
|
|
NM_206933.4(USH2A):c.13474_13481del (p.Thr4492fs)
|
|
|
NM_206933.4(USH2A):c.13481A>G (p.Tyr4494Cys)
|
rs1322092837
|
|
NM_206933.4(USH2A):c.13494_13516dup (p.Ser4506fs)
|
|
|
NM_206933.4(USH2A):c.13524del (p.Thr4508_Val4509insTer)
|
|
|
NM_206933.4(USH2A):c.13524dup (p.Val4509fs)
|
|
|
NM_206933.4(USH2A):c.13547G>A (p.Gly4516Glu)
|
|
|
NM_206933.4(USH2A):c.13550del (p.Gly4517fs)
|
|
|
NM_206933.4(USH2A):c.13587del (p.Ser4530fs)
|
rs1571948114
|
|
NM_206933.4(USH2A):c.13590dup (p.Ala4531fs)
|
rs2102664921
|
|
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs)
|
rs1485393201
|
|
NM_206933.4(USH2A):c.13596dup (p.Ser4533fs)
|
|
|
NM_206933.4(USH2A):c.13598C>G (p.Ser4533Ter)
|
rs1657921221
|
|
NM_206933.4(USH2A):c.13599del (p.Met4535fs)
|
rs2102664886
|
|
NM_206933.4(USH2A):c.13634del (p.Pro4545fs)
|
rs2102664808
|
|
NM_206933.4(USH2A):c.13639del (p.Glu4547fs)
|
|
|
NM_206933.4(USH2A):c.13655G>A (p.Trp4552Ter)
|
rs2102664776
|
|
NM_206933.4(USH2A):c.13695T>G (p.Tyr4565Ter)
|
rs1553252343
|
|
NM_206933.4(USH2A):c.13700del (p.Leu4567fs)
|
rs1212608410
|
|
NM_206933.4(USH2A):c.13711G>T (p.Glu4571Ter)
|
rs751411512
|
|
NM_206933.4(USH2A):c.13731_13743del (p.Thr4577_Lys4578insTer)
|
|
|
NM_206933.4(USH2A):c.13732_13796dup (p.Lys4600_Pro4601insSerTyrThrTerLys)
|
rs2102664474
|
|
NM_206933.4(USH2A):c.13763del (p.Ser4588fs)
|
|
|
NM_206933.4(USH2A):c.13778C>A (p.Ser4593Ter)
|
rs1202573136
|
|
NM_206933.4(USH2A):c.13784_13785del (p.Ile4595fs)
|
|
|
NM_206933.4(USH2A):c.13792C>T (p.Gln4598Ter)
|
rs1657911759
|
|
NM_206933.4(USH2A):c.13804T>C (p.Phe4602Leu)
|
rs755099565
|
|
NM_206933.4(USH2A):c.13812-1G>A
|
rs199782530
|
|
NM_206933.4(USH2A):c.13812-1G>T
|
|
|
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)
|
rs367674026
|
|
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)
|
rs527236124
|
|
NM_206933.4(USH2A):c.13865G>A (p.Trp4622Ter)
|
|
|
NM_206933.4(USH2A):c.13866G>A (p.Trp4622Ter)
|
|
|
NM_206933.4(USH2A):c.13876C>T (p.Gln4626Ter)
|
rs1657805631
|
|
NM_206933.4(USH2A):c.13877_13880del (p.Gln4626fs)
|
|
|
NM_206933.4(USH2A):c.1387_1416del (p.Tyr463_Asn472del)
|
rs1005235415
|
|
NM_206933.4(USH2A):c.13886_13902del (p.Glu4629fs)
|
rs2102661452
|
|
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer)
|
rs1553252052
|
|
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys)
|
rs1423536179
|
|
NM_206933.4(USH2A):c.13925_13926dup (p.Gln4643fs)
|
|
|
NM_206933.4(USH2A):c.13979C>A (p.Pro4660Gln)
|
rs761367363
|
|
NM_206933.4(USH2A):c.13985del (p.Gln4662fs)
|
rs1553252041
|
|
NM_206933.4(USH2A):c.13993G>T (p.Gly4665Ter)
|
rs2102661344
|
|
NM_206933.4(USH2A):c.14007T>A (p.Tyr4669Ter)
|
rs1657800056
|
|
NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del)
|
rs1657799383
|
|
NM_206933.4(USH2A):c.1401C>A (p.Tyr467Ter)
|
rs887496752
|
|
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly)
|
rs80338904
|
|
NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter)
|
rs1571945476
|
|
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)
|
rs397517988
|
|
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)
|
rs1657798642
|
|
NM_206933.4(USH2A):c.14049del (p.Lys4683fs)
|
|
|
NM_206933.4(USH2A):c.14087del (p.Ser4696fs)
|
rs2102661201
|
|
NM_206933.4(USH2A):c.14091del (p.Phe4697fs)
|
rs2102661189
|
|
NM_206933.4(USH2A):c.14101G>T (p.Glu4701Ter)
|
rs372966682
|
|
NM_206933.4(USH2A):c.14110_14111insA (p.Pro4704fs)
|
rs2102661164
|
|
NM_206933.4(USH2A):c.14124T>G (p.Tyr4708Ter)
|
rs2102661156
|
|
NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser)
|
rs1064797129
|
|
NM_206933.4(USH2A):c.14130T>G (p.Tyr4710Ter)
|
|
|
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)
|
rs747063294
|
|
NM_206933.4(USH2A):c.14133+1G>A
|
|
|
NM_206933.4(USH2A):c.1415_1494delinsG (p.Asn472fs)
|
|
|
NM_206933.4(USH2A):c.14161del (p.Ala4721fs)
|
|
|
NM_206933.4(USH2A):c.14166del (p.Ser4723fs)
|
|
|
NM_206933.4(USH2A):c.1416_1441del (p.Asn472fs)
|
|
|
NM_206933.4(USH2A):c.14174G>A (p.Trp4725Ter)
|
|
|
NM_206933.4(USH2A):c.14175G>A (p.Trp4725Ter)
|
rs886042722
|
|
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)
|
rs397517989
|
|
NM_206933.4(USH2A):c.14181G>A (p.Trp4727Ter)
|
rs935176131
|
|
NM_206933.4(USH2A):c.14217del (p.Ala4740fs)
|
|
|
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs)
|
rs1657036615
|
|
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)
|
rs527236126
|
|
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)
|
rs727504867
|
|
NM_206933.4(USH2A):c.14273dup (p.Gly4759fs)
|
rs2102644857
|
|
NM_206933.4(USH2A):c.14283_14304del (p.Asn4762fs)
|
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.14287G>C (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu)
|
rs781195579
|
|
NM_206933.4(USH2A):c.14289del (p.Ile4764fs)
|
rs2102644832
|
|
NM_206933.4(USH2A):c.14302_14305dup (p.Arg4769fs)
|
rs2102644805
|
|
NM_206933.4(USH2A):c.14309dup (p.Phe4771fs)
|
rs2102644788
|
|
NM_206933.4(USH2A):c.1432G>T (p.Glu478Ter)
|
rs1364214310
|
|
NM_206933.4(USH2A):c.14350G>T (p.Glu4784Ter)
|
rs746837034
|
|
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter)
|
rs1571929573
|
|
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs)
|
rs1553250192
|
|
NM_206933.4(USH2A):c.14407_14420delinsTCA (p.Ile4803fs)
|
|
|
NM_206933.4(USH2A):c.14407_14431del (p.Ile4803fs)
|
|
|
NM_206933.4(USH2A):c.14408_14420del (p.Ile4803fs)
|
|
|
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)
|
rs1553250184
|
|
NM_206933.4(USH2A):c.14439_14454del (p.Asn4812_Cys4813insTer)
|
rs1656942613
|
|
NM_206933.4(USH2A):c.14441G>T (p.Cys4814Phe)
|
rs2102643210
|
|
NM_206933.4(USH2A):c.14483del (p.Pro4828fs)
|
|
|
NM_206933.4(USH2A):c.14487del (p.Ser4830fs)
|
rs2102643165
|
|
NM_206933.4(USH2A):c.14502_14503del (p.Pro4835fs)
|
rs794727830
|
|
NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter)
|
rs766370703
|
|
NM_206933.4(USH2A):c.14529del (p.Thr4844fs)
|
rs1656938047
|
|
NM_206933.4(USH2A):c.14532_14535del (p.Ala4845fs)
|
|
|
NM_206933.4(USH2A):c.14551_14560del (p.Pro4851fs)
|
|
|
NM_206933.4(USH2A):c.14561del (p.Phe4854fs)
|
|
|
NM_206933.4(USH2A):c.14565del (p.Asn4856fs)
|
|
|
NM_206933.4(USH2A):c.14583-1G>T
|
|
|
NM_206933.4(USH2A):c.14586T>G (p.Tyr4862Ter)
|
|
|
NM_206933.4(USH2A):c.14620_14629del (p.Ser4874fs)
|
|
|
NM_206933.4(USH2A):c.14649del (p.Ile4883fs)
|
rs1656901821
|
|
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter)
|
rs948087886
|
|
NM_206933.4(USH2A):c.1467del (p.His490fs)
|
rs1371262635
|
|
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)
|
rs1553250072
|
|
NM_206933.4(USH2A):c.1473_1474delinsTT (p.Gln492Ter)
|
|
|
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
|
rs754834155
|
|
NM_206933.4(USH2A):c.1476_1491del (p.Tyr493fs)
|
|
|
NM_206933.4(USH2A):c.14777_14783del (p.Thr4926fs)
|
rs1571928405
|
|
NM_206933.4(USH2A):c.14787del (p.Glu4930fs)
|
rs34713174
|
|
NM_206933.4(USH2A):c.14791+1G>A
|
rs1656892077
|
|
NM_206933.4(USH2A):c.14791+2T>A
|
rs1553250050
|
|
NM_206933.4(USH2A):c.14791+4A>G
|
rs1408904076
|
|
NM_206933.4(USH2A):c.14792-1G>A
|
|
|
NM_206933.4(USH2A):c.1479C>A (p.Tyr493Ter)
|
|
|
NM_206933.4(USH2A):c.14802C>G (p.Tyr4934Ter)
|
|
|
NM_206933.4(USH2A):c.14831del (p.Leu4944fs)
|
rs2102636085
|
|
NM_206933.4(USH2A):c.14834_14837del (p.Ser4945fs)
|
rs2102636068
|
|
NM_206933.4(USH2A):c.14835del (p.Val4946fs)
|
rs2102636076
|
|
NM_206933.4(USH2A):c.14838_14839del (p.Val4949fs)
|
rs2102636059
|
|
NM_206933.4(USH2A):c.14857dup (p.Asp4953fs)
|
rs2102636047
|
|
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs)
|
rs1656646221
|
|
NM_206933.4(USH2A):c.14880_14881insGA (p.Leu4961fs)
|
rs1656647155
|
|
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs)
|
rs2102636006
|
|
NM_206933.4(USH2A):c.14892C>A (p.Tyr4964Ter)
|
|
|
NM_206933.4(USH2A):c.14894_14915del (p.Val4965fs)
|
rs1553249452
|
|
NM_206933.4(USH2A):c.14895del (p.Val4965_Leu4966insTer)
|
rs1656646424
|
|
NM_206933.4(USH2A):c.14897del (p.Val4965_Leu4966insTer)
|
|
|
NM_206933.4(USH2A):c.14905G>T (p.Gly4969Ter)
|
rs753226272
|
|
NM_206933.4(USH2A):c.14941del (p.Leu4981fs)
|
|
|
NM_206933.4(USH2A):c.14965A>T (p.Lys4989Ter)
|
rs770658506
|
|
NM_206933.4(USH2A):c.14970del (p.Phe4991fs)
|
|
|
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)
|
rs747160949
|
|
NM_206933.4(USH2A):c.15031del (p.Tyr5011fs)
|
rs2102634627
|
|
NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs)
|
rs1553249294
|
|
NM_206933.4(USH2A):c.15053-2A>C
|
|
|
NM_206933.4(USH2A):c.15053-2A>G
|
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
NM_206933.4(USH2A):c.15082_15083del (p.Lys5028fs)
|
rs2102630722
|
|
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)
|
rs758660532
|
|
NM_206933.4(USH2A):c.15104_15105del (p.Thr5035fs)
|
rs2102630677
|
|
NM_206933.4(USH2A):c.15118G>T (p.Glu5040Ter)
|
|
|
NM_206933.4(USH2A):c.15124_15125dup (p.Trp5042fs)
|
rs2102630646
|
|
NM_206933.4(USH2A):c.15125G>A (p.Trp5042Ter)
|
rs2102630643
|
|
NM_206933.4(USH2A):c.15126G>A (p.Trp5042Ter)
|
rs2102630641
|
|
NM_206933.4(USH2A):c.15126del (p.Trp5042fs)
|
|
|
NM_206933.4(USH2A):c.15190C>T (p.Gln5064Ter)
|
|
|
NM_206933.4(USH2A):c.15199del (p.Ile5067fs)
|
rs2102630527
|
|
NM_206933.4(USH2A):c.15208G>T (p.Glu5070Ter)
|
rs1426135314
|
|
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer)
|
rs1571701069
|
|
NM_206933.4(USH2A):c.15223_15224del (p.Glu5075fs)
|
|
|
NM_206933.4(USH2A):c.15240_15243del (p.Pro5081fs)
|
rs2102630480
|
|
NM_206933.4(USH2A):c.15247C>T (p.Gln5083Ter)
|
rs2102630468
|
|
NM_206933.4(USH2A):c.15260_15263dup (p.Leu5089fs)
|
|
|
NM_206933.4(USH2A):c.15266_15294del (p.Leu5089fs)
|
|
|
NM_206933.4(USH2A):c.15286del (p.Glu5096fs)
|
rs1656408131
|
|
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys)
|
rs767209934
|
|
NM_206933.4(USH2A):c.15322del (p.Arg5108fs)
|
rs1553248234
|
|
NM_206933.4(USH2A):c.15338_15339del (p.Val5113fs)
|
|
|
NM_206933.4(USH2A):c.15371del (p.Leu5124fs)
|
rs1656163649
|
|
NM_206933.4(USH2A):c.15380del (p.Pro5127fs)
|
rs1553248216
|
|
NM_206933.4(USH2A):c.15389dup (p.Asn5130fs)
|
|
|
NM_206933.4(USH2A):c.15391C>T (p.Gln5131Ter)
|
|
|
NM_206933.4(USH2A):c.15393_15394insGG (p.Thr5132fs)
|
rs2102625236
|
|
NM_206933.4(USH2A):c.15403del (p.Thr5135fs)
|
rs770984400
|
|
NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter)
|
rs763463859
|
|
NM_206933.4(USH2A):c.15439C>T (p.Gln5147Ter)
|
|
|
NM_206933.4(USH2A):c.15440_15443dup (p.Met5149fs)
|
|
|
NM_206933.4(USH2A):c.15465del (p.Val5156fs)
|
rs769582796
|
|
NM_206933.4(USH2A):c.15465dup (p.Val5156fs)
|
rs769582796
|
|
NM_206933.4(USH2A):c.15479del (p.Asn5160fs)
|
|
|
NM_206933.4(USH2A):c.1548del (p.Arg517fs)
|
|
|
NM_206933.4(USH2A):c.1558T>A (p.Cys520Ser)
|
rs2102650681
|
|
NM_206933.4(USH2A):c.1558del (p.Cys520fs)
|
rs878853410
|
|
NM_206933.4(USH2A):c.1571C>A (p.Ala524Asp)
|
|
|
NM_206933.4(USH2A):c.1588_1589insG (p.Thr530fs)
|
|
|
NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser)
|
rs111033273
|
|
NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter)
|
rs1195403033
|
|
NM_206933.4(USH2A):c.1618C>T (p.Gln540Ter)
|
rs1558036860
|
|
NM_206933.4(USH2A):c.1636G>T (p.Gly546Ter)
|
|
|
NM_206933.4(USH2A):c.163C>T (p.Gln55Ter)
|
rs2102788946
|
|
NM_206933.4(USH2A):c.1644+4A>G
|
|
|
NM_206933.4(USH2A):c.1645-2A>C
|
|
|
NM_206933.4(USH2A):c.1645-2A>G
|
|
|
NM_206933.4(USH2A):c.1645-2A>T
|
|
|
NM_206933.4(USH2A):c.1665_1666del (p.Leu555_Tyr556insTer)
|
rs2102611118
|
|
NM_206933.4(USH2A):c.1679del (p.Pro560fs)
|
rs773539640
|
|
NM_206933.4(USH2A):c.1687C>T (p.Gln563Ter)
|
rs2037017719
|
|
NM_206933.4(USH2A):c.1696C>T (p.Gln566Ter)
|
|
|
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054
|
|
NM_206933.4(USH2A):c.1724G>C (p.Cys575Ser)
|
|
|
NM_206933.4(USH2A):c.1750del (p.Cys584fs)
|
rs2102610898
|
|
NM_206933.4(USH2A):c.1751G>T (p.Cys584Phe)
|
rs2037016118
|
|
NM_206933.4(USH2A):c.1757_1758insATA (p.Tyr586Ter)
|
rs2102610892
|
|
NM_206933.4(USH2A):c.1786del (p.Glu596fs)
|
|
|
NM_206933.4(USH2A):c.1802GAG[2] (p.Gly603del)
|
rs2037014263
|
|
NM_206933.4(USH2A):c.1802del (p.Gly601fs)
|
|
|
NM_206933.4(USH2A):c.1803del (p.Gly602fs)
|
rs1553327452
|
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
|
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter)
|
rs2037013894
|
|
NM_206933.4(USH2A):c.1829A>C (p.His610Pro)
|
rs1571668556
|
|
NM_206933.4(USH2A):c.1836_1839dup (p.Gly614fs)
|
rs2102610607
|
|
NM_206933.4(USH2A):c.1840+1G>T
|
|
|
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg)
|
rs768436928
|
|
NM_206933.4(USH2A):c.1841-1G>A
|
rs2102606531
|
|
NM_206933.4(USH2A):c.1850G>A (p.Cys617Tyr)
|
|
|
NM_206933.4(USH2A):c.1860C>A (p.Cys620Ter)
|
|
|
NM_206933.4(USH2A):c.1898C>A (p.Ser633Ter)
|
|
|
NM_206933.4(USH2A):c.1903_1919del (p.Ile635fs)
|
|
|
NM_206933.4(USH2A):c.1907_1911del (p.Asp636fs)
|
|
|
NM_206933.4(USH2A):c.1912_1913insCACAG (p.Cys638fs)
|
|
|
NM_206933.4(USH2A):c.1914del (p.Val637_Cys638insTer)
|
|
|
NM_206933.4(USH2A):c.1923T>A (p.Cys641Ter)
|
rs2036952419
|
|
NM_206933.4(USH2A):c.1927_1934del (p.Cys643fs)
|
|
|
NM_206933.4(USH2A):c.1963T>C (p.Cys655Arg)
|
|
|
NM_206933.4(USH2A):c.1978G>A (p.Gly660Arg)
|
rs2102552084
|
|
NM_206933.4(USH2A):c.1979_1980insGGCTTTAAAAGCAGATGCTGAGAGAACACCTGGGATCTGAGGCTGCCTCAAAAGGCNNNNNNNNNNGCAAGCATCTGACAGCCTGGAACAGAACCCTGCACCCGCGAGTGAGGATCAGACAGCCTGGAGCAGCACCC (p.Gly660_Gln661insAlaLeuLysAlaAspAlaGluArgThrProGlyIleTer)
|
|
|
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser)
|
rs1487450999
|
|
NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter)
|
rs2036152207
|
|
NM_206933.4(USH2A):c.1995_2002dup (p.Val668fs)
|
rs2036151723
|
|
NM_206933.4(USH2A):c.201T>A (p.Cys67Ter)
|
|
|
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)
|
rs868562952
|
|
NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter)
|
rs1571623023
|
|
NM_206933.4(USH2A):c.2029C>T (p.Gln677Ter)
|
rs2102551941
|
|
NM_206933.4(USH2A):c.2035G>T (p.Gly679Ter)
|
rs367693972
|
|
NM_206933.4(USH2A):c.2071T>C (p.Cys691Arg)
|
|
|
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter)
|
rs376674482
|
|
NM_206933.4(USH2A):c.2080T>A (p.Cys694Ser)
|
rs2036149054
|
|
NM_206933.4(USH2A):c.2099_2120del (p.Gly700fs)
|
|
|
NM_206933.4(USH2A):c.20C>G (p.Ser7Ter)
|
|
|
NM_206933.4(USH2A):c.2145dup (p.Lys716fs)
|
|
|
NM_206933.4(USH2A):c.2149T>A (p.Cys717Ser)
|
rs1304016981
|
|
NM_206933.4(USH2A):c.2149T>G (p.Cys717Gly)
|
|
|
NM_206933.4(USH2A):c.2168-2A>C
|
rs993185407
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.2194G>T (p.Gly732Ter)
|
|
|
NM_206933.4(USH2A):c.2228_2231del (p.Gly743fs)
|
rs1305146157
|
|
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr)
|
rs751035557
|
|
NM_206933.4(USH2A):c.2232T>A (p.Cys744Ter)
|
|
|
NM_206933.4(USH2A):c.2245T>C (p.Cys749Arg)
|
|
|
NM_206933.4(USH2A):c.2251del (p.Leu751fs)
|
|
|
NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs)
|
rs1553320542
|
|
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)
|
rs777629750
|
|
NM_206933.4(USH2A):c.2297G>A (p.Cys766Tyr)
|
rs2036066367
|
|
NM_206933.4(USH2A):c.2301del (p.Glu767fs)
|
|
|
NM_206933.4(USH2A):c.2303del (p.Cys768fs)
|
rs2102546166
|
|
NM_206933.4(USH2A):c.233del (p.Phe78fs)
|
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs)
|
rs587776538
|
|
NM_206933.4(USH2A):c.242dup (p.Arg82fs)
|
rs2102788764
|
|
NM_206933.4(USH2A):c.263_340del (p.Cys88_Asn114delinsTyr)
|
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
NM_206933.4(USH2A):c.269A>G (p.Tyr90Cys)
|
rs755435330
|
|
NM_206933.4(USH2A):c.271A>T (p.Arg91Ter)
|
|
|
NM_206933.4(USH2A):c.2815del (p.Tyr939fs)
|
rs1572074292
|
|
NM_206933.4(USH2A):c.2846_2849dup (p.Cys951fs)
|
|
|
NM_206933.4(USH2A):c.2853C>A (p.Cys951Ter)
|
rs755849157
|
|
NM_206933.4(USH2A):c.2878_2879del (p.Asn960fs)
|
rs2102522326
|
|
NM_206933.4(USH2A):c.2898del (p.Thr967fs)
|
rs397518008
|
|
NM_206933.4(USH2A):c.292dup (p.Thr98fs)
|
rs2102788650
|
|
NM_206933.4(USH2A):c.2944dup (p.Cys982fs)
|
rs2102522151
|
|
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg)
|
rs1171264735
|
|
NM_206933.4(USH2A):c.2965dup (p.Tyr989fs)
|
|
|
NM_206933.4(USH2A):c.2967C>G (p.Tyr989Ter)
|
|
|
NM_206933.4(USH2A):c.2983C>T (p.Gln995Ter)
|
rs527236135
|
|
NM_206933.4(USH2A):c.2994-1G>A
|
|
|
NM_206933.4(USH2A):c.3004del (p.Cys1002fs)
|
rs1572060089
|
|
NM_206933.4(USH2A):c.3015del (p.Leu1006fs)
|
|
|
NM_206933.4(USH2A):c.3039del (p.Cys1014fs)
|
|
|
NM_206933.4(USH2A):c.3073C>T (p.Gln1025Ter)
|
|
|
NM_206933.4(USH2A):c.3086del (p.Gly1029fs)
|
rs886044060
|
|
NM_206933.4(USH2A):c.3096T>A (p.Cys1032Ter)
|
rs2102496332
|
|
NM_206933.4(USH2A):c.3129dup (p.Val1044fs)
|
rs786205115
|
|
NM_206933.4(USH2A):c.3157del (p.Thr1053fs)
|
|
|
NM_206933.4(USH2A):c.3158-2A>G
|
rs878853404
|
|
NM_206933.4(USH2A):c.3166C>T (p.Gln1056Ter)
|
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.3196dup (p.Ser1066fs)
|
|
|
NM_206933.4(USH2A):c.3220T>C (p.Trp1074Arg)
|
rs1344390541
|
|
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)
|
rs1064797138
|
|
NM_206933.4(USH2A):c.3224_3225dup (p.Pro1076fs)
|
rs1572051012
|
|
NM_206933.4(USH2A):c.3251G>A (p.Trp1084Ter)
|
rs1363689100
|
|
NM_206933.4(USH2A):c.3252G>A (p.Trp1084Ter)
|
|
|
NM_206933.4(USH2A):c.3266del (p.Leu1089fs)
|
rs2102480814
|
|
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs)
|
rs748369458
|
|
NM_206933.4(USH2A):c.3299dup (p.Asp1101fs)
|
|
|
NM_206933.4(USH2A):c.3317-2A>C
|
|
|
NM_206933.4(USH2A):c.3327C>A (p.Tyr1109Ter)
|
rs758705873
|
|
NM_206933.4(USH2A):c.3347T>G (p.Leu1116Ter)
|
|
|
NM_206933.4(USH2A):c.3351del (p.Tyr1118fs)
|
|
|
NM_206933.4(USH2A):c.3372_3373del (p.Tyr1124_Ile1125insTer)
|
rs2034949292
|
|
NM_206933.4(USH2A):c.3381del (p.Thr1128fs)
|
rs2034948574
|
|
NM_206933.4(USH2A):c.3384_3417del (p.Asn1129fs)
|
rs1572042851
|
|
NM_206933.4(USH2A):c.3395del (p.Gly1132fs)
|
|
|
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
|
rs483353055
|
|
NM_206933.4(USH2A):c.3420_3423del (p.Tyr1141fs)
|
|
|
NM_206933.4(USH2A):c.3435del (p.Val1147fs)
|
rs397518012
|
|
NM_206933.4(USH2A):c.3454_3455del (p.Leu1152fs)
|
|
|
NM_206933.4(USH2A):c.3455T>A (p.Leu1152Ter)
|
rs2034946086
|
|
NM_206933.4(USH2A):c.3461T>C (p.Leu1154Ser)
|
rs1064797137
|
|
NM_206933.4(USH2A):c.3486dup (p.Asp1163fs)
|
|
|
NM_206933.4(USH2A):c.3493del (p.Ser1164_Val1165insTer)
|
rs2034944843
|
|
NM_206933.4(USH2A):c.3494_3495del (p.Val1165fs)
|
rs1553313844
|
|
NM_206933.4(USH2A):c.3506G>A (p.Trp1169Ter)
|
rs2102467034
|
|
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter)
|
rs762167370
|
|
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)
|
rs397518013
|
|
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)
|
rs397518014
|
|
NM_206933.4(USH2A):c.3589del (p.Ser1197fs)
|
rs1553313810
|
|
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)
|
rs1294733964
|
|
NM_206933.4(USH2A):c.3604G>T (p.Glu1202Ter)
|
rs2034941445
|
|
NM_206933.4(USH2A):c.3611del (p.Thr1203_Ser1204insTer)
|
|
|
NM_206933.4(USH2A):c.3639dup (p.Ala1214fs)
|
|
|
NM_206933.4(USH2A):c.3648C>A (p.Tyr1216Ter)
|
|
|
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)
|
rs767797828
|
|
NM_206933.4(USH2A):c.3680del (p.Gly1227fs)
|
|
|
NM_206933.4(USH2A):c.3680dup (p.Cys1228fs)
|
rs1553313793
|
|
NM_206933.4(USH2A):c.3684T>A (p.Cys1228Ter)
|
rs2102466516
|
|
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)
|
rs2034938852
|
|
NM_206933.4(USH2A):c.3699del (p.Ile1234fs)
|
rs2034938612
|
|
NM_206933.4(USH2A):c.370dup (p.Ser124fs)
|
|
|
NM_206933.4(USH2A):c.3713C>G (p.Thr1238Arg)
|
rs768461447
|
|
NM_206933.4(USH2A):c.3722_3729delinsTCA (p.Ala1241fs)
|
rs2102466384
|
|
NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter)
|
|
|
NM_206933.4(USH2A):c.3737dup (p.Ser1247fs)
|
rs2034937352
|
|
NM_206933.4(USH2A):c.3742_3743dup (p.Pro1249fs)
|
rs2102466345
|
|
NM_206933.4(USH2A):c.377del (p.Ser126fs)
|
rs1571805235
|
|
NM_206933.4(USH2A):c.3781_3782del (p.Val1261fs)
|
|
|
NM_206933.4(USH2A):c.3788G>A (p.Trp1263Ter)
|
rs1572042090
|
|
NM_206933.4(USH2A):c.3809del (p.Asn1270fs)
|
|
|
NM_206933.4(USH2A):c.3828T>G (p.Tyr1276Ter)
|
rs2034908815
|
|
NM_206933.4(USH2A):c.3837del (p.Leu1278_Tyr1279insTer)
|
|
|
NM_206933.4(USH2A):c.3840_3841delinsCT (p.Met1280_Arg1281delinsIleTer)
|
rs2102464408
|
|
NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter)
|
rs2034908088
|
|
NM_206933.4(USH2A):c.3850del (p.Arg1284fs)
|
rs2102464376
|
|
NM_206933.4(USH2A):c.3862G>T (p.Glu1288Ter)
|
rs2034907262
|
|
NM_206933.4(USH2A):c.3877G>T (p.Glu1293Ter)
|
|
|
NM_206933.4(USH2A):c.387del (p.Phe129fs)
|
rs1484339054
|
|
NM_206933.4(USH2A):c.3890_3891del (p.Phe1297fs)
|
|
|
NM_206933.4(USH2A):c.3905G>A (p.Trp1302Ter)
|
|
|
NM_206933.4(USH2A):c.3906G>A (p.Trp1302Ter)
|
|
|
NM_206933.4(USH2A):c.3911_3917del (p.Ser1304fs)
|
rs2034905123
|
|
NM_206933.4(USH2A):c.3911del (p.Ser1304fs)
|
rs2102464224
|
|
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)
|
rs756623509
|
|
NM_206933.4(USH2A):c.3932C>A (p.Ser1311Ter)
|
|
|
NM_206933.4(USH2A):c.3934del (p.Ala1312fs)
|
rs2102464166
|
|
NM_206933.4(USH2A):c.3956del (p.Pro1319fs)
|
rs2102464077
|
|
NM_206933.4(USH2A):c.4005T>G (p.Tyr1335Ter)
|
rs2034901738
|
|
NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs)
|
|
|
NM_206933.4(USH2A):c.402del (p.Cys135fs)
|
rs1255535680
|
|
NM_206933.4(USH2A):c.4033G>C (p.Ala1345Pro)
|
rs2034900559
|
|
NM_206933.4(USH2A):c.4046del (p.Ser1349fs)
|
rs2034899784
|
|
NM_206933.4(USH2A):c.4056G>A (p.Trp1352Ter)
|
rs2034899344
|
|
NM_206933.4(USH2A):c.4061C>G (p.Ser1354Ter)
|
|
|
NM_206933.4(USH2A):c.4074_4078del (p.Glu1359fs)
|
rs2102463707
|
|
NM_206933.4(USH2A):c.4082-1G>A
|
rs747581764
|
|
NM_206933.4(USH2A):c.409dup (p.Ser137fs)
|
rs1571805164
|
|
NM_206933.4(USH2A):c.4102C>T (p.Pro1368Ser)
|
rs755867377
|
|
NM_206933.4(USH2A):c.4107_4124del (p.Val1370_Ser1375del)
|
rs1558310707
|
|
NM_206933.4(USH2A):c.4108dup (p.Val1370fs)
|
|
|
NM_206933.4(USH2A):c.4117dup (p.Leu1373fs)
|
|
|
NM_206933.4(USH2A):c.4118del (p.Leu1373fs)
|
rs2102460644
|
|
NM_206933.4(USH2A):c.4121_4122del (p.Ser1374fs)
|
rs2102460635
|
|
NM_206933.4(USH2A):c.4125del (p.Tyr1376fs)
|
rs1064793506
|
|
NM_206933.4(USH2A):c.4128C>G (p.Tyr1376Ter)
|
|
|
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
|
rs2034852728
|
|
NM_206933.4(USH2A):c.4133_4134del (p.Leu1378fs)
|
rs397518015
|
|
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs)
|
rs397518015
|
|
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)
|
rs1177198729
|
|
NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs)
|
rs2034850724
|
|
NM_206933.4(USH2A):c.4184del (p.Val1395fs)
|
|
|
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs)
|
rs1553313308
|
|
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter)
|
rs2034849647
|
|
NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter)
|
rs1308702971
|
|
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311
|
|
NM_206933.4(USH2A):c.4246dup (p.Ser1416fs)
|
rs2102460254
|
|
NM_206933.4(USH2A):c.4249C>T (p.Gln1417Ter)
|
|
|
NM_206933.4(USH2A):c.4251+1G>T
|
rs878853405
|
|
NM_206933.4(USH2A):c.4251+1del
|
rs2102460236
|
|
NM_206933.4(USH2A):c.4273C>T (p.Gln1425Ter)
|
rs2102655189
|
|
NM_206933.4(USH2A):c.4276_4277del (p.Glu1426fs)
|
rs1475129324
|
|
NM_206933.4(USH2A):c.4320T>A (p.Tyr1440Ter)
|
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.4361_4371del (p.Thr1454fs)
|
|
|
NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg)
|
rs1553312493
|
|
NM_206933.4(USH2A):c.4370C>A (p.Ser1457Ter)
|
rs2034688425
|
|
NM_206933.4(USH2A):c.4378G>T (p.Gly1460Ter)
|
|
|
NM_206933.4(USH2A):c.4384del (p.Thr1462fs)
|
rs2034687946
|
|
NM_206933.4(USH2A):c.4385C>T (p.Thr1462Ile)
|
rs2034687815
|
|
NM_206933.4(USH2A):c.4396+2T>C
|
|
|
NM_206933.4(USH2A):c.4396+2T>G
|
rs2034687381
|
|
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)
|
rs1553258122
|
|
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter)
|
rs797045113
|
|
NM_206933.4(USH2A):c.4469C>A (p.Pro1490His)
|
rs2034358073
|
|
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter)
|
rs869312179
|
|
NM_206933.4(USH2A):c.4478del (p.Leu1493fs)
|
|
|
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter)
|
rs1553258037
|
|
NM_206933.4(USH2A):c.449T>G (p.Leu150Ter)
|
rs1553258037
|
|
NM_206933.4(USH2A):c.4565dup (p.Ile1523fs)
|
rs2102640989
|
|
NM_206933.4(USH2A):c.456_457insGGCTAAA (p.Trp153delinsGlyTer)
|
rs2102788229
|
|
NM_206933.4(USH2A):c.457T>C (p.Trp153Arg)
|
|
|
NM_206933.4(USH2A):c.4603dup (p.His1535fs)
|
rs1572020896
|
|
NM_206933.4(USH2A):c.4615_4616insAA (p.Thr1539fs)
|
|
|
NM_206933.4(USH2A):c.4628-2A>G
|
rs2032462132
|
|
NM_206933.4(USH2A):c.4628-2A>T
|
|
|
NM_206933.4(USH2A):c.4667T>A (p.Leu1556Ter)
|
|
|
NM_206933.4(USH2A):c.4669_4672del (p.Ile1557fs)
|
rs747891004
|
|
NM_206933.4(USH2A):c.4685delinsAT (p.Ser1562fs)
|
|
|
NM_206933.4(USH2A):c.4696C>T (p.Gln1566Ter)
|
rs966964402
|
|
NM_206933.4(USH2A):c.4698_4702del (p.Glu1567fs)
|
|
|
NM_206933.4(USH2A):c.469G>T (p.Glu157Ter)
|
rs2102788200
|
|
NM_206933.4(USH2A):c.4707T>G (p.Tyr1569Ter)
|
rs2032459600
|
|
NM_206933.4(USH2A):c.4758+1G>A
|
|
|
NM_206933.4(USH2A):c.4758+1del
|
rs2102572705
|
|
NM_206933.4(USH2A):c.4759-2A>G
|
rs2102565390
|
|
NM_206933.4(USH2A):c.475C>T (p.Gln159Ter)
|
rs1558081965
|
|
NM_206933.4(USH2A):c.4769dup (p.Glu1591fs)
|
rs2102565369
|
|
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs)
|
rs1553300558
|
|
NM_206933.4(USH2A):c.4819T>C (p.Trp1607Arg)
|
rs2032221850
|
|
NM_206933.4(USH2A):c.4820G>A (p.Trp1607Ter)
|
rs769612846
|
|
NM_206933.4(USH2A):c.4823A>G (p.His1608Arg)
|
rs2032221370
|
|
NM_206933.4(USH2A):c.485+3A>T
|
rs1553258031
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs)
|
rs1558251742
|
|
NM_206933.4(USH2A):c.490G>T (p.Val164Phe)
|
rs527236123
|
|
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter)
|
rs2032147505
|
|
NM_206933.4(USH2A):c.4943T>C (p.Leu1648Pro)
|
rs1558251712
|
|
NM_206933.4(USH2A):c.4946G>A (p.Gly1649Glu)
|
rs1558251710
|
|
NM_206933.4(USH2A):c.4949G>C (p.Gly1650Ala)
|
rs1558251708
|
|
NM_206933.4(USH2A):c.5001del (p.Gly1668fs)
|
|
|
NM_206933.4(USH2A):c.5001dup (p.Gly1668fs)
|
rs397518018
|
|
NM_206933.4(USH2A):c.5007del (p.Phe1669fs)
|
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5012G>T (p.Gly1671Val)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5020A>T (p.Lys1674Ter)
|
|
|
NM_206933.4(USH2A):c.5024del (p.Asp1675fs)
|
|
|
NM_206933.4(USH2A):c.5038A>T (p.Lys1680Ter)
|
rs2032074764
|
|
NM_206933.4(USH2A):c.5046C>A (p.Tyr1682Ter)
|
|
|
NM_206933.4(USH2A):c.5079G>A (p.Trp1693Ter)
|
rs2032072206
|
|
NM_206933.4(USH2A):c.5083del (p.Ser1695fs)
|
rs1553300016
|
|
NM_206933.4(USH2A):c.5095C>T (p.Gln1699Ter)
|
|
|
NM_206933.4(USH2A):c.5109T>G (p.Tyr1703Ter)
|
|
|
NM_206933.4(USH2A):c.5151_5152del (p.Gln1718fs)
|
rs2032068125
|
|
NM_206933.4(USH2A):c.5152C>T (p.Gln1718Ter)
|
|
|
NM_206933.4(USH2A):c.5153A>C (p.Gln1718Pro)
|
rs2102561067
|
|
NM_206933.4(USH2A):c.5158del (p.Phe1719_Leu1720insTer)
|
rs1571947978
|
|
NM_206933.4(USH2A):c.5167+1G>T
|
rs794727408
|
|
NM_206933.4(USH2A):c.5168G>A (p.Gly1723Glu)
|
|
|
NM_206933.4(USH2A):c.5191_5192del (p.Met1731fs)
|
|
|
NM_206933.4(USH2A):c.5218del (p.Ile1740fs)
|
rs2032019895
|
|
NM_206933.4(USH2A):c.5242C>T (p.Gln1748Ter)
|
|
|
NM_206933.4(USH2A):c.5246T>G (p.Leu1749Ter)
|
rs1558249837
|
|
NM_206933.4(USH2A):c.5250_5277del (p.Asn1750fs)
|
rs2102559671
|
|
NM_206933.4(USH2A):c.5251G>A (p.Gly1751Arg)
|
|
|
NM_206933.4(USH2A):c.5292dup (p.Leu1765fs)
|
rs2102559650
|
|
NM_206933.4(USH2A):c.532dup (p.Thr178fs)
|
rs1571801788
|
|
NM_206933.4(USH2A):c.5352dup (p.Thr1785fs)
|
rs1181345434
|
|
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter)
|
rs2102554503
|
|
NM_206933.4(USH2A):c.5398T>C (p.Trp1800Arg)
|
|
|
NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly)
|
rs777011507
|
|
NM_206933.4(USH2A):c.545_546del (p.Lys182fs)
|
rs780779563
|
|
NM_206933.4(USH2A):c.5473G>T (p.Glu1825Ter)
|
rs1571941589
|
|
NM_206933.4(USH2A):c.5485C>T (p.Gln1829Ter)
|
rs2102554289
|
|
NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr)
|
rs755032078
|
|
NM_206933.4(USH2A):c.5512dup (p.Tyr1838fs)
|
rs2031815415
|
|
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)
|
rs886039867
|
|
NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val)
|
rs1571941511
|
|
NM_206933.4(USH2A):c.5528C>T (p.Pro1843Leu)
|
rs200209833
|
|
NM_206933.4(USH2A):c.5530C>T (p.Gln1844Ter)
|
rs761075303
|
|
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs)
|
rs1553299022
|
|
NM_206933.4(USH2A):c.5548del (p.Tyr1850fs)
|
rs2102554196
|
|
NM_206933.4(USH2A):c.5552delinsTT (p.Gln1851fs)
|
|
|
NM_206933.4(USH2A):c.5566G>T (p.Glu1856Ter)
|
|
|
NM_206933.4(USH2A):c.5573-2A>G
|
rs1045789152
|
|
NM_206933.4(USH2A):c.5573-843A>G
|
rs556882699
|
|
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val)
|
rs760543320
|
|
NM_206933.4(USH2A):c.55del (p.Met19fs)
|
rs2039692173
|
|
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)
|
rs1553298240
|
|
NM_206933.4(USH2A):c.5603_5613del (p.Phe1868fs)
|
|
|
NM_206933.4(USH2A):c.5614_5615insTAACTTGGCAT (p.Ala1872fs)
|
rs2031623445
|
|
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.5635del (p.Val1879fs)
|
|
|
NM_206933.4(USH2A):c.563A>C (p.Tyr188Ser)
|
rs2102783934
|
|
NM_206933.4(USH2A):c.563A>G (p.Tyr188Cys)
|
|
|
NM_206933.4(USH2A):c.5678C>A (p.Ser1893Ter)
|
|
|
NM_206933.4(USH2A):c.5678C>G (p.Ser1893Ter)
|
rs2031620246
|
|
NM_206933.4(USH2A):c.5719del (p.Leu1907fs)
|
|
|
NM_206933.4(USH2A):c.5728C>T (p.Gln1910Ter)
|
rs2031617950
|
|
NM_206933.4(USH2A):c.5735_5736del (p.Lys1912fs)
|
|
|
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter)
|
rs762837293
|
|
NM_206933.4(USH2A):c.5751C>A (p.Tyr1917Ter)
|
rs145742052
|
|
NM_206933.4(USH2A):c.5751C>G (p.Tyr1917Ter)
|
rs145742052
|
|
NM_206933.4(USH2A):c.5752G>T (p.Glu1918Ter)
|
rs529355834
|
|
NM_206933.4(USH2A):c.575A>C (p.Asn192Thr)
|
rs2039616380
|
|
NM_206933.4(USH2A):c.5764C>T (p.Gln1922Ter)
|
rs1571936130
|
|
NM_206933.4(USH2A):c.5776+2T>C
|
rs866978361
|
|
NM_206933.4(USH2A):c.5776+2T>G
|
rs866978361
|
|
NM_206933.4(USH2A):c.5776G>A (p.Glu1926Lys)
|
|
|
NM_206933.4(USH2A):c.5777-1G>A
|
|
|
NM_206933.4(USH2A):c.5777-2A>C
|
rs1064797136
|
|
NM_206933.4(USH2A):c.5781C>A (p.Tyr1927Ter)
|
rs760845108
|
|
NM_206933.4(USH2A):c.5781C>G (p.Tyr1927Ter)
|
|
|
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)
|
rs397518021
|
|
NM_206933.4(USH2A):c.5818del (p.Val1940fs)
|
rs2102548644
|
|
NM_206933.4(USH2A):c.5832dup (p.Ser1945fs)
|
rs2102548612
|
|
NM_206933.4(USH2A):c.5835_5836dup (p.Arg1946fs)
|
rs1221017154
|
|
NM_206933.4(USH2A):c.5857+1G>C
|
rs2031604509
|
|
NM_206933.4(USH2A):c.5857+1del
|
|
|
NM_206933.4(USH2A):c.5858-1G>A
|
rs397518023
|
|
NM_206933.4(USH2A):c.5870_5871del (p.Val1957fs)
|
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.5933del (p.Pro1978fs)
|
|
|
NM_206933.4(USH2A):c.5945dup (p.Val1983fs)
|
|
|
NM_206933.4(USH2A):c.5961C>A (p.Tyr1987Ter)
|
rs773927620
|
|
NM_206933.4(USH2A):c.5983dup (p.Asp1995fs)
|
rs2102546096
|
|
NM_206933.4(USH2A):c.6029del (p.Val2010fs)
|
|
|
NM_206933.4(USH2A):c.6050-2A>G
|
rs772124060
|
|
NM_206933.4(USH2A):c.6084T>A (p.Tyr2028Ter)
|
|
|
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)
|
rs2030619513
|
|
NM_206933.4(USH2A):c.612dup (p.Arg205fs)
|
rs2039614529
|
|
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter)
|
rs1209837469
|
|
NM_206933.4(USH2A):c.6140T>A (p.Leu2047Ter)
|
rs1368784894
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs)
|
rs1553294144
|
|
NM_206933.4(USH2A):c.6195del (p.Lys2065fs)
|
|
|
NM_206933.4(USH2A):c.6211_6212dup (p.Leu2071fs)
|
rs2102524917
|
|
NM_206933.4(USH2A):c.6225G>T (p.Trp2075Cys)
|
rs1553294134
|
|
NM_206933.4(USH2A):c.6234del (p.Lys2080fs)
|
rs2030528716
|
|
NM_206933.4(USH2A):c.6239del (p.Lys2080fs)
|
rs1558229491
|
|
NM_206933.4(USH2A):c.6239dup (p.Ala2081fs)
|
|
|
NM_206933.4(USH2A):c.6283del (p.Arg2095fs)
|
|
|
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)
|
rs111033268
|
|
NM_206933.4(USH2A):c.6292_6296del (p.Tyr2098fs)
|
rs2102524828
|
|
NM_206933.4(USH2A):c.6325+1G>A
|
rs1293202153
|
|
NM_206933.4(USH2A):c.632G>A (p.Trp211Ter)
|
rs727504893
|
|
NM_206933.4(USH2A):c.633G>A (p.Trp211Ter)
|
|
|
NM_206933.4(USH2A):c.6349C>T (p.Gln2117Ter)
|
|
|
NM_206933.4(USH2A):c.6363_6364del (p.Ala2122fs)
|
|
|
NM_206933.4(USH2A):c.6369C>A (p.Cys2123Ter)
|
|
|
NM_206933.4(USH2A):c.6382T>C (p.Cys2128Arg)
|
|
|
NM_206933.4(USH2A):c.6394del (p.Ser2132fs)
|
rs1668243665
|
|
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter)
|
rs727503725
|
|
NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter)
|
rs55958016
|
|
NM_206933.4(USH2A):c.6451del (p.Val2150_Leu2151insTer)
|
rs2102483177
|
|
NM_206933.4(USH2A):c.6485+5G>A
|
rs1668240410
|
|
NM_206933.4(USH2A):c.6486-1G>A
|
rs2102482051
|
|
NM_206933.4(USH2A):c.6488G>A (p.Trp2163Ter)
|
|
|
NM_206933.4(USH2A):c.649C>T (p.Gln217Ter)
|
|
|
NM_206933.4(USH2A):c.651+1G>A
|
rs1553257761
|
|
NM_206933.4(USH2A):c.6520G>T (p.Glu2174Ter)
|
|
|
NM_206933.4(USH2A):c.6524_6525del (p.Arg2175fs)
|
|
|
NM_206933.4(USH2A):c.6570G>A (p.Trp2190Ter)
|
rs2102481922
|
|
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)
|
rs794727579
|
|
NM_206933.4(USH2A):c.6621C>A (p.Tyr2207Ter)
|
rs771072859
|
|
NM_206933.4(USH2A):c.6638_6641del (p.Lys2213fs)
|
|
|
NM_206933.4(USH2A):c.6639del (p.Lys2213fs)
|
rs876657732
|
|
NM_206933.4(USH2A):c.6642T>A (p.Tyr2214Ter)
|
|
|
NM_206933.4(USH2A):c.6657+1G>A
|
rs1571876788
|
|
NM_206933.4(USH2A):c.6657+2T>G
|
rs2102481774
|
|
NM_206933.4(USH2A):c.667dup (p.Ile223fs)
|
rs1553253747
|
|
NM_206933.4(USH2A):c.668T>C (p.Ile223Thr)
|
rs2038569132
|
|
NM_206933.4(USH2A):c.6705_6708del (p.Asp2237fs)
|
|
|
NM_206933.4(USH2A):c.6706del (p.Thr2236fs)
|
|
|
NM_206933.4(USH2A):c.6712_6722del (p.Glu2238fs)
|
|
|
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6752C>G (p.Ser2251Ter)
|
|
|
NM_206933.4(USH2A):c.675_678del (p.Phe225fs)
|
rs2102708663
|
|
NM_206933.4(USH2A):c.6782G>A (p.Trp2261Ter)
|
rs2102476647
|
|
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)
|
rs727503723
|
|
NM_206933.4(USH2A):c.6805+1G>T
|
rs1553285919
|
|
NM_206933.4(USH2A):c.6835G>T (p.Asp2279Tyr)
|
rs1421761057
|
|
NM_206933.4(USH2A):c.6845T>G (p.Leu2282Ter)
|
rs2102458475
|
|
NM_206933.4(USH2A):c.6859_6860dup (p.Glu2288fs)
|
|
|
NM_206933.4(USH2A):c.6903del (p.Leu2301fs)
|
|
|
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs)
|
rs1667472317
|
|
NM_206933.4(USH2A):c.6905del (p.His2302fs)
|
rs2102458388
|
|
NM_206933.4(USH2A):c.6925T>C (p.Cys2309Arg)
|
|
|
NM_206933.4(USH2A):c.6931del (p.Ala2311fs)
|
rs1667471296
|
|
NM_206933.4(USH2A):c.698del (p.Asp233fs)
|
|
|
NM_206933.4(USH2A):c.6990del (p.Gly2331fs)
|
rs1667318047
|
|
NM_206933.4(USH2A):c.69del (p.Tyr24fs)
|
rs2102789194
|
|
NM_206933.4(USH2A):c.7023dup (p.Ser2342fs)
|
rs1667317168
|
|
NM_206933.4(USH2A):c.7027del (p.Arg2343fs)
|
rs1667316878
|
|
NM_206933.4(USH2A):c.7034_7035insTT (p.His2346fs)
|
|
|
NM_206933.4(USH2A):c.7040T>A (p.Val2347Glu)
|
rs1667316070
|
|
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
|
|
|
NM_206933.4(USH2A):c.7049_7053del (p.Glu2350fs)
|
|
|
NM_206933.4(USH2A):c.7059del (p.Arg2354fs)
|
|
|
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs)
|
rs1667314337
|
|
NM_206933.4(USH2A):c.7076T>A (p.Leu2359Ter)
|
|
|
NM_206933.4(USH2A):c.7077_7078del (p.Leu2359fs)
|
|
|
NM_206933.4(USH2A):c.7118del (p.Pro2373fs)
|
rs2102453751
|
|
NM_206933.4(USH2A):c.7130dup (p.Asn2377fs)
|
rs1553277866
|
|
NM_206933.4(USH2A):c.7139_7140del (p.Leu2380fs)
|
rs2102499800
|
|
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter)
|
rs376983577
|
|
NM_206933.4(USH2A):c.7174G>T (p.Glu2392Ter)
|
rs1192539262
|
|
NM_206933.4(USH2A):c.7184_7194del (p.Leu2395fs)
|
rs2102499717
|
|
NM_206933.4(USH2A):c.7188G>A (p.Trp2396Ter)
|
|
|
NM_206933.4(USH2A):c.7216del (p.Thr2406fs)
|
rs2102499681
|
|
NM_206933.4(USH2A):c.7231C>T (p.Gln2411Ter)
|
rs755693369
|
|
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)
|
rs397518029
|
|
NM_206933.4(USH2A):c.725dup (p.Ser243fs)
|
rs1195779037
|
|
NM_206933.4(USH2A):c.7300+1G>T
|
|
|
NM_206933.4(USH2A):c.7301-2A>C
|
|
|
NM_206933.4(USH2A):c.7305dup (p.Asp2436fs)
|
|
|
NM_206933.4(USH2A):c.7364G>A (p.Trp2455Ter)
|
|
|
NM_206933.4(USH2A):c.738dup (p.Thr247fs)
|
|
|
NM_206933.4(USH2A):c.7414C>T (p.Gln2472Ter)
|
rs2102470145
|
|
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter)
|
rs2102469649
|
|
NM_206933.4(USH2A):c.7468del (p.Ser2490fs)
|
rs1665453379
|
|
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter)
|
rs483353056
|
|
NM_206933.4(USH2A):c.747del (p.Phe249fs)
|
|
|
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)
|
rs1553274448
|
|
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)
|
rs1558151555
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)
|
rs1553274424
|
|
NM_206933.4(USH2A):c.7569G>A (p.Trp2523Ter)
|
rs2102469493
|
|
NM_206933.4(USH2A):c.7588del (p.Glu2530fs)
|
rs1665448415
|
|
NM_206933.4(USH2A):c.7594+1G>A
|
|
|
NM_206933.4(USH2A):c.7594A>T (p.Lys2532Ter)
|
rs2102469461
|
|
NM_206933.4(USH2A):c.7605del (p.Pro2535_Val2536insTer)
|
|
|
NM_206933.4(USH2A):c.7620del (p.Leu2541fs)
|
rs1553273412
|
|
NM_206933.4(USH2A):c.7633A>T (p.Lys2545Ter)
|
rs774559456
|
|
NM_206933.4(USH2A):c.7637C>A (p.Ser2546Ter)
|
|
|
NM_206933.4(USH2A):c.7637del (p.Lys2545_Ser2546insTer)
|
|
|
NM_206933.4(USH2A):c.763C>T (p.Gln255Ter)
|
|
|
NM_206933.4(USH2A):c.7660C>T (p.Gln2554Ter)
|
|
|
NM_206933.4(USH2A):c.775_776del (p.Ser259fs)
|
rs2038566220
|
|
NM_206933.4(USH2A):c.7788_7799delinsA (p.Tyr2596_Val2600delinsTer)
|
|
|
NM_206933.4(USH2A):c.7795C>T (p.Gln2599Ter)
|
|
|
NM_206933.4(USH2A):c.7809C>A (p.Cys2603Ter)
|
|
|
NM_206933.4(USH2A):c.7818del (p.Gly2607fs)
|
|
|
NM_206933.4(USH2A):c.7831del (p.Ser2611fs)
|
rs1665136420
|
|
NM_206933.4(USH2A):c.7862del (p.Pro2621fs)
|
rs2102460381
|
|
NM_206933.4(USH2A):c.7863del (p.Ala2623fs)
|
rs2102460377
|
|
NM_206933.4(USH2A):c.7871del (p.Pro2624fs)
|
|
|
NM_206933.4(USH2A):c.7873G>T (p.Glu2625Ter)
|
rs1259115799
|
|
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)
|
rs398124620
|
|
NM_206933.4(USH2A):c.792_795del (p.Glu264fs)
|
|
|
NM_206933.4(USH2A):c.7931G>A (p.Trp2644Ter)
|
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.7933C>T (p.Gln2645Ter)
|
|
|
NM_206933.4(USH2A):c.7940del (p.Pro2647fs)
|
rs1665132445
|
|
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)
|
rs886041502
|
|
NM_206933.4(USH2A):c.7977del (p.Ile2659fs)
|
rs2102460222
|
|
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter)
|
rs1301139848
|
|
NM_206933.4(USH2A):c.8002G>T (p.Glu2668Ter)
|
rs2102460193
|
|
NM_206933.4(USH2A):c.802G>C (p.Gly268Arg)
|
|
|
NM_206933.4(USH2A):c.803del (p.Gly268fs)
|
rs2037761776
|
|
NM_206933.4(USH2A):c.805A>T (p.Arg269Ter)
|
|
|
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)
|
rs1553273330
|
|
NM_206933.4(USH2A):c.8083A>T (p.Lys2695Ter)
|
rs775921966
|
|
NM_206933.4(USH2A):c.8088T>A (p.Tyr2696Ter)
|
|
|
NM_206933.4(USH2A):c.8089G>T (p.Glu2697Ter)
|
rs1558146243
|
|
NM_206933.4(USH2A):c.8094T>G (p.Tyr2698Ter)
|
|
|
NM_206933.4(USH2A):c.8098del (p.Val2700fs)
|
|
|
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs)
|
rs768367348
|
|
NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter)
|
|
|
NM_206933.4(USH2A):c.8143dup (p.Val2715fs)
|
rs760455927
|
|
NM_206933.4(USH2A):c.815del (p.Asp272fs)
|
rs2102658827
|
|
NM_206933.4(USH2A):c.8190_8193dup (p.Val2732fs)
|
|
|
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)
|
rs397518036
|
|
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)
|
rs397518036
|
|
NM_206933.4(USH2A):c.8211del (p.Asp2738fs)
|
|
|
NM_206933.4(USH2A):c.8224-1G>A
|
|
|
NM_206933.4(USH2A):c.8224-1G>C
|
rs1664846558
|
|
NM_206933.4(USH2A):c.8224-1G>T
|
|
|
NM_206933.4(USH2A):c.8231G>A (p.Trp2744Ter)
|
rs1664846292
|
|
NM_206933.4(USH2A):c.8232G>T (p.Trp2744Cys)
|
|
|
NM_206933.4(USH2A):c.8232del (p.Thr2743_Trp2744insTer)
|
rs1664846221
|
|
NM_206933.4(USH2A):c.8240del (p.Pro2747fs)
|
rs1553272201
|
|
NM_206933.4(USH2A):c.8271T>G (p.Tyr2757Ter)
|
rs1571774019
|
|
NM_206933.4(USH2A):c.828C>A (p.Tyr276Ter)
|
|
|
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)
|
rs1553250952
|
|
NM_206933.4(USH2A):c.8312del (p.Val2771fs)
|
|
|
NM_206933.4(USH2A):c.8327T>G (p.Leu2776Ter)
|
|
|
NM_206933.4(USH2A):c.8328_8329del (p.Gln2778fs)
|
|
|
NM_206933.4(USH2A):c.8332C>T (p.Gln2778Ter)
|
rs1664842535
|
|
NM_206933.4(USH2A):c.8341dup (p.Thr2781fs)
|
rs2102451863
|
|
NM_206933.4(USH2A):c.8389dup (p.Ser2797fs)
|
|
|
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe)
|
rs2037760521
|
|
NM_206933.4(USH2A):c.8407del (p.Gly2804fs)
|
|
|
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)
|
rs2037760415
|
|
NM_206933.4(USH2A):c.8435_8438del (p.Thr2812fs)
|
rs1664838877
|
|
NM_206933.4(USH2A):c.8442dup (p.Thr2815fs)
|
rs2102451706
|
|
NM_206933.4(USH2A):c.8457del (p.Val2820fs)
|
|
|
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter)
|
rs2102451648
|
|
NM_206933.4(USH2A):c.8482del (p.Ser2828fs)
|
rs2102451639
|
|
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)
|
rs762869685
|
|
NM_206933.4(USH2A):c.852_853del
|
rs1188025733
|
|
NM_206933.4(USH2A):c.8546G>T (p.Gly2849Val)
|
rs1064794034
|
|
NM_206933.4(USH2A):c.8558+1G>T
|
rs770383273
|
|
NM_206933.4(USH2A):c.8559-1G>T
|
rs1664816177
|
|
NM_206933.4(USH2A):c.8584C>T (p.Gln2862Ter)
|
rs748863844
|
|
NM_206933.4(USH2A):c.8585del (p.Gln2862fs)
|
|
|
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter)
|
rs2102450764
|
|
NM_206933.4(USH2A):c.8628G>A (p.Trp2876Ter)
|
rs1180119632
|
|
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs)
|
rs1553272035
|
|
NM_206933.4(USH2A):c.8642C>G (p.Ser2881Ter)
|
rs2102450707
|
|
NM_206933.4(USH2A):c.8661T>G (p.Tyr2887Ter)
|
rs2102450680
|
|
NM_206933.4(USH2A):c.8681+1G>C
|
|
|
NM_206933.4(USH2A):c.8681+1G>T
|
rs876657733
|
|
NM_206933.4(USH2A):c.8681+2T>C
|
rs2102450642
|
|
NM_206933.4(USH2A):c.8682-1G>A
|
rs1553271001
|
|
NM_206933.4(USH2A):c.8682-3_8682-1delinsAA
|
|
|
NM_206933.4(USH2A):c.8714dup (p.His2905fs)
|
rs2102440764
|
|
NM_206933.4(USH2A):c.871G>T (p.Gly291Ter)
|
rs2102656270
|
|
NM_206933.4(USH2A):c.8723_8724del (p.Val2908fs)
|
rs2102440742
|
|
NM_206933.4(USH2A):c.8782G>T (p.Gly2928Ter)
|
rs1664490756
|
|
NM_206933.4(USH2A):c.8862del (p.Gly2955fs)
|
rs2102823350
|
|
NM_206933.4(USH2A):c.8883_8886del (p.Leu2962fs)
|
rs2102823316
|
|
NM_206933.4(USH2A):c.8890dup (p.Trp2964fs)
|
rs786205116
|
|
NM_206933.4(USH2A):c.8906C>G (p.Ser2969Ter)
|
|
|
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)
|
rs1553268582
|
|
NM_206933.4(USH2A):c.8932_8933insSVAelement
|
|
|
NM_206933.4(USH2A):c.895del (p.Gln299fs)
|
rs1338169194
|
|
NM_206933.4(USH2A):c.8963del (p.Lys2988fs)
|
|
|
NM_206933.4(USH2A):c.8972_8973del (p.Thr2991fs)
|
|
|
NM_206933.4(USH2A):c.8988_8989insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGTATTGGATCTTT (p.Ile2997delinsPhePhePhePhePhePheXaaXaaXaaXaaAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
rs2102823179
|
|
NM_206933.4(USH2A):c.8993_8994del (p.Ser2998fs)
|
rs2102823161
|
|
NM_206933.4(USH2A):c.89T>A (p.Leu30Ter)
|
|
|
NM_206933.4(USH2A):c.9055+1del
|
rs1553268563
|
|
NM_206933.4(USH2A):c.9106_9110del (p.Val3036fs)
|
|
|
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)
|
rs1269642027
|
|
NM_206933.4(USH2A):c.9120G>A (p.Trp3040Ter)
|
|
|
NM_206933.4(USH2A):c.9159T>G (p.Tyr3053Ter)
|
rs397518042
|
|
NM_206933.4(USH2A):c.9165_9168del (p.Ile3055fs)
|
rs2102821808
|
|
NM_206933.4(USH2A):c.9187A>T (p.Lys3063Ter)
|
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9226_9227del (p.Asp3076fs)
|
rs1553268434
|
|
NM_206933.4(USH2A):c.9239del (p.Phe3080fs)
|
rs2102821722
|
|
NM_206933.4(USH2A):c.9249T>A (p.Tyr3083Ter)
|
|
|
NM_206933.4(USH2A):c.9258+1G>T
|
rs748810737
|
|
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)
|
rs779572631
|
|
NM_206933.4(USH2A):c.9285C>A (p.Cys3095Ter)
|
|
|
NM_206933.4(USH2A):c.9298G>T (p.Gly3100Ter)
|
|
|
NM_206933.4(USH2A):c.9307del (p.Ile3103fs)
|
rs1558121260
|
|
NM_206933.4(USH2A):c.9312del (p.Thr3105fs)
|
rs2102816598
|
|
NM_206933.4(USH2A):c.9319G>T (p.Glu3107Ter)
|
|
|
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)
|
rs536593247
|
|
NM_206933.4(USH2A):c.9353_9354del (p.Ile3118fs)
|
|
|
NM_206933.4(USH2A):c.9371+1G>A
|
rs41308425
|
|
NM_206933.4(USH2A):c.9371+1G>T
|
|
|
NM_206933.4(USH2A):c.9386_9389del (p.Asp3129fs)
|
|
|
NM_206933.4(USH2A):c.9388T>G (p.Trp3130Gly)
|
|
|
NM_206933.4(USH2A):c.9390G>A (p.Trp3130Ter)
|
rs886042766
|
|
NM_206933.4(USH2A):c.9391dup (p.Val3131fs)
|
rs2102796558
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter)
|
rs1662880811
|
|
NM_206933.4(USH2A):c.9441G>A (p.Trp3147Ter)
|
rs1662880750
|
|
NM_206933.4(USH2A):c.9449G>A (p.Trp3150Ter)
|
|
|
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)
|
rs73090721
|
|
NM_206933.4(USH2A):c.9466del (p.Thr3156fs)
|
|
|
NM_206933.4(USH2A):c.946C>T (p.Gln316Ter)
|
|
|
NM_206933.4(USH2A):c.9473del (p.Lys3158fs)
|
rs2102796411
|
|
NM_206933.4(USH2A):c.9487C>T (p.Gln3163Ter)
|
rs188988614
|
|
NM_206933.4(USH2A):c.9488del (p.Gln3163fs)
|
rs2102796387
|
|
NM_206933.4(USH2A):c.9495dup (p.Glu3166Ter)
|
rs2102796376
|
|
NM_206933.4(USH2A):c.9504C>A (p.Cys3168Ter)
|
rs2102796365
|
|
NM_206933.4(USH2A):c.9518_9519del (p.Cys3173fs)
|
|
|
NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer)
|
rs2102796345
|
|
NM_206933.4(USH2A):c.9538del (p.Cys3180fs)
|
rs36108227
|
|
NM_206933.4(USH2A):c.9552C>A (p.Cys3184Ter)
|
|
|
NM_206933.4(USH2A):c.9556del (p.Ser3186fs)
|
|
|
NM_206933.4(USH2A):c.956G>T (p.Cys319Phe)
|
|
|
NM_206933.4(USH2A):c.9570+1G>T
|
|
|
NM_206933.4(USH2A):c.9570+1_9570+5del
|
|
|
NM_206933.4(USH2A):c.9602_9611del (p.Lys3201fs)
|
rs2102793202
|
|
NM_206933.4(USH2A):c.9625G>T (p.Glu3209Ter)
|
|
|
NM_206933.4(USH2A):c.9638del (p.Pro3213fs)
|
rs1662774674
|
|
NM_206933.4(USH2A):c.9642dup (p.Val3215fs)
|
|
|
NM_206933.4(USH2A):c.9669T>A (p.Cys3223Ter)
|
|
|
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter)
|
rs1662772955
|
|
NM_206933.4(USH2A):c.9685del (p.Glu3229fs)
|
rs878853233
|
|
NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter)
|
rs1662771528
|
|
NM_206933.4(USH2A):c.9699del (p.His3234fs)
|
|
|
NM_206933.4(USH2A):c.9723C>G (p.Tyr3241Ter)
|
rs6660707
|
|
NM_206933.4(USH2A):c.9739+2T>C
|
rs2102792992
|
|
NM_206933.4(USH2A):c.9751T>C (p.Cys3251Arg)
|
rs527236118
|
|
NM_206933.4(USH2A):c.9763C>T (p.Gln3255Ter)
|
rs1662226257
|
|
NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del)
|
rs1246009294
|
|
NM_206933.4(USH2A):c.9811del (p.Met3271fs)
|
rs767328784
|
|
NM_206933.4(USH2A):c.9827C>A (p.Ser3276Ter)
|
rs863224941
|
|
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter)
|
rs863224941
|
|
NM_206933.4(USH2A):c.9833del (p.Asn3278fs)
|
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter)
|
rs2102778615
|
|
NM_206933.4(USH2A):c.987_988insTAA (p.Asn330Ter)
|
rs2102655994
|
|
NM_206933.4(USH2A):c.987dup (p.Asn330Ter)
|
|
|
NM_206933.4(USH2A):c.9881_9882insT (p.Cys3295fs)
|
rs2102778595
|
|
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp)
|
rs780036975
|
|
NM_206933.4(USH2A):c.98C>A (p.Ser33Ter)
|
rs2039690812
|
|
NM_206933.4(USH2A):c.990dup (p.Arg331Ter)
|
|
|
NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)
|
|
|
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)
|
rs1571703801
|
|
NM_206933.4(USH2A):c.9945dup (p.Asn3316fs)
|
|
|
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)
|
rs1285853856
|
|
NM_206933.4(USH2A):c.9959-1G>C
|
|
|
NM_206933.4(USH2A):c.9959-2A>G
|
rs1661946523
|
|
NM_206933.4(USH2A):c.9959-4159A>G
|
rs1662067653
|
|
NM_206933.4(USH2A):c.9967del (p.Cys3323fs)
|
|
|
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)
|
rs1288381992
|
|
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs)
|
rs1571703770
|
|
Single allele
|
|
|