NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr)
|
rs112120466
|
0.00159
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg)
|
rs111033450
|
0.00076
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00066
|
NM_206933.4(USH2A):c.485+12T>C
|
rs201857884
|
0.00058
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00056
|
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro)
|
rs1321779316
|
0.00056
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
|
rs143275144
|
0.00031
|
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu)
|
rs138640647
|
0.00027
|
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala)
|
rs144817385
|
0.00020
|
NM_206933.4(USH2A):c.5608C>T (p.Arg1870Trp)
|
rs144768593
|
0.00019
|
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe)
|
rs368058316
|
0.00018
|
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)
|
rs200792578
|
0.00014
|
NM_206933.4(USH2A):c.14368C>A (p.Gln4790Lys)
|
rs779057575
|
0.00014
|
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)
|
rs143319658
|
0.00014
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
0.00014
|
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)
|
rs141452179
|
0.00014
|
NM_206933.4(USH2A):c.6801G>A (p.Pro2267=)
|
rs375235470
|
0.00012
|
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His)
|
rs138879998
|
0.00011
|
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)
|
rs139065588
|
0.00011
|
NM_206933.4(USH2A):c.5890C>T (p.Arg1964Cys)
|
rs148049006
|
0.00011
|
NM_206933.4(USH2A):c.1674C>T (p.Asp558=)
|
rs778757759
|
0.00010
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn)
|
rs752238803
|
0.00009
|
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=)
|
rs537863698
|
0.00008
|
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys)
|
rs371685066
|
0.00008
|
NM_206933.4(USH2A):c.10388A>G (p.Asp3463Gly)
|
rs146014881
|
0.00006
|
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr)
|
rs183979371
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
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.14557A>G (p.Met4853Val)
|
rs753594462
|
0.00005
|
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile)
|
rs142649882
|
0.00005
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His)
|
rs550096037
|
0.00004
|
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
|
rs149807281
|
0.00004
|
NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys)
|
rs531822235
|
0.00004
|
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro)
|
rs368986242
|
0.00004
|
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met)
|
rs564240175
|
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.3584G>T (p.Cys1195Phe)
|
rs727504652
|
0.00003
|
NM_206933.4(USH2A):c.3665C>T (p.Ala1222Val)
|
rs200081251
|
0.00003
|
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)
|
rs781668118
|
0.00003
|
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His)
|
rs778272177
|
0.00003
|
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val)
|
rs527689947
|
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.10852G>A (p.Gly3618Ser)
|
rs778158900
|
0.00002
|
NM_206933.4(USH2A):c.14011G>A (p.Glu4671Lys)
|
rs769560933
|
0.00002
|
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)
|
rs752377040
|
0.00002
|
NM_206933.4(USH2A):c.3316+5G>C
|
rs1442104013
|
0.00002
|
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met)
|
rs776972526
|
0.00002
|
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg)
|
rs375744536
|
0.00002
|
NM_206933.4(USH2A):c.7525C>T (p.Arg2509Trp)
|
rs1394948601
|
0.00002
|
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu)
|
rs748455430
|
0.00002
|
NM_206933.4(USH2A):c.8041A>T (p.Met2681Leu)
|
rs561700482
|
0.00002
|
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu)
|
rs1467856164
|
0.00002
|
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met)
|
rs149485593
|
0.00001
|
NM_206933.4(USH2A):c.11530A>G (p.Ile3844Val)
|
rs1267260016
|
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.12432G>A (p.Ala4144=)
|
rs773192157
|
0.00001
|
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His)
|
rs147304271
|
0.00001
|
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr)
|
rs955434291
|
0.00001
|
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)
|
rs397517982
|
0.00001
|
NM_206933.4(USH2A):c.12954C>T (p.Tyr4318=)
|
rs762159022
|
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.13577G>A (p.Arg4526Gln)
|
rs527644737
|
0.00001
|
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu)
|
rs1202573136
|
0.00001
|
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)
|
rs1040917329
|
0.00001
|
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys)
|
rs898430789
|
0.00001
|
NM_206933.4(USH2A):c.15092G>A (p.Arg5031Gln)
|
rs755653202
|
0.00001
|
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn)
|
rs374144657
|
0.00001
|
NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe)
|
rs542341955
|
0.00001
|
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)
|
rs527236122
|
0.00001
|
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590
|
0.00001
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
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.2186G>A (p.Cys729Tyr)
|
rs780709977
|
0.00001
|
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr)
|
rs1391032458
|
0.00001
|
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met)
|
rs201190539
|
0.00001
|
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)
|
rs758095361
|
0.00001
|
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn)
|
rs775241651
|
0.00001
|
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys)
|
rs752992414
|
0.00001
|
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys)
|
rs150143291
|
0.00001
|
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys)
|
rs774634733
|
0.00001
|
NM_206933.4(USH2A):c.6715G>C (p.Asp2239His)
|
rs749853149
|
0.00001
|
NM_206933.4(USH2A):c.6806-3C>T
|
rs775703386
|
0.00001
|
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr)
|
rs374569301
|
0.00001
|
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys)
|
rs770418427
|
0.00001
|
NM_206933.4(USH2A):c.9862G>C (p.Asp3288His)
|
rs1334903455
|
0.00001
|
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe)
|
rs1662221668
|
0.00001
|
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly)
|
rs766658893
|
0.00001
|
NM_206933.4(USH2A):c.10024G>A (p.Gly3342Arg)
|
|
|
NM_206933.4(USH2A):c.10149C>G (p.Cys3383Trp)
|
|
|
NM_206933.4(USH2A):c.10157A>C (p.Lys3386Thr)
|
|
|
NM_206933.4(USH2A):c.10159A>G (p.Ile3387Val)
|
|
|
NM_206933.4(USH2A):c.1021C>T (p.Pro341Ser)
|
|
|
NM_206933.4(USH2A):c.10330T>G (p.Cys3444Gly)
|
rs1661811625
|
|
NM_206933.4(USH2A):c.1038_1091dup (p.Thr363_Gln364insHisAspAsnAspValGlyThrSerTrpValSerAsnValPheThrAsnIleThr)
|
rs2037708032
|
|
NM_206933.4(USH2A):c.10425G>T (p.Arg3475Ser)
|
|
|
NM_206933.4(USH2A):c.10473A>G (p.Arg3491=)
|
|
|
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser)
|
rs771610821
|
|
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)
|
rs1241034250
|
|
NM_206933.4(USH2A):c.1048G>A (p.Val350Ile)
|
|
|
NM_206933.4(USH2A):c.10544A>G (p.Asp3515Gly)
|
rs527236119
|
|
NM_206933.4(USH2A):c.10584T>G (p.Asn3528Lys)
|
|
|
NM_206933.4(USH2A):c.10627C>T (p.Arg3543Cys)
|
|
|
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu)
|
rs397517968
|
|
NM_206933.4(USH2A):c.10810G>T (p.Val3604Leu)
|
|
|
NM_206933.4(USH2A):c.10826G>C (p.Ser3609Thr)
|
rs727504307
|
|
NM_206933.4(USH2A):c.10839T>C (p.Pro3613=)
|
|
|
NM_206933.4(USH2A):c.10976C>T (p.Thr3659Ile)
|
|
|
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly)
|
rs766505885
|
|
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu)
|
rs527236139
|
|
NM_206933.4(USH2A):c.11377T>C (p.Trp3793Arg)
|
rs895291691
|
|
NM_206933.4(USH2A):c.11423A>G (p.Asn3808Ser)
|
|
|
NM_206933.4(USH2A):c.1150T>C (p.Tyr384His)
|
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu)
|
rs1064797132
|
|
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn)
|
rs866937010
|
|
NM_206933.4(USH2A):c.1204AAG[1] (p.Lys403del)
|
|
|
NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val)
|
rs878853409
|
|
NM_206933.4(USH2A):c.120G>A (p.Leu40=)
|
|
|
NM_206933.4(USH2A):c.12270T>C (p.Pro4090=)
|
|
|
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)
|
rs1657997491
|
|
NM_206933.4(USH2A):c.12305T>A (p.Ile4102Asn)
|
|
|
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe)
|
rs1064797131
|
|
NM_206933.4(USH2A):c.12463C>T (p.Pro4155Ser)
|
|
|
NM_206933.4(USH2A):c.12711A>G (p.Glu4237=)
|
rs1657976025
|
|
NM_206933.4(USH2A):c.12730A>C (p.Asn4244His)
|
|
|
NM_206933.4(USH2A):c.12782C>T (p.Ala4261Val)
|
|
|
NM_206933.4(USH2A):c.12863C>A (p.Pro4288Gln)
|
|
|
NM_206933.4(USH2A):c.12897G>C (p.Arg4299Ser)
|
rs143898511
|
|
NM_206933.4(USH2A):c.12932T>C (p.Phe4311Ser)
|
rs1657960260
|
|
NM_206933.4(USH2A):c.13021T>G (p.Cys4341Gly)
|
|
|
NM_206933.4(USH2A):c.13071A>C (p.Ser4357=)
|
rs568141672
|
|
NM_206933.4(USH2A):c.13175G>C (p.Arg4392Thr)
|
|
|
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu)
|
rs2039690182
|
|
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13385T>G (p.Ile4462Ser)
|
|
|
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser)
|
rs1657932443
|
|
NM_206933.4(USH2A):c.13492A>G (p.Thr4498Ala)
|
|
|
NM_206933.4(USH2A):c.13513T>C (p.Tyr4505His)
|
|
|
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)
|
rs746442849
|
|
NM_206933.4(USH2A):c.13590A>G (p.Ser4530=)
|
rs1343900269
|
|
NM_206933.4(USH2A):c.13803A>T (p.Pro4601=)
|
rs929186272
|
|
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)
|
rs527236124
|
|
NM_206933.4(USH2A):c.13854A>G (p.Ala4618=)
|
|
|
NM_206933.4(USH2A):c.1387_1419delinsACT (p.Tyr463_Asn472del)
|
rs2037662587
|
|
NM_206933.4(USH2A):c.13887G>T (p.Glu4629Asp)
|
|
|
NM_206933.4(USH2A):c.13894C>G (p.Pro4632Ala)
|
|
|
NM_206933.4(USH2A):c.13907C>A (p.Pro4636His)
|
|
|
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys)
|
rs1423536179
|
|
NM_206933.4(USH2A):c.13916A>C (p.His4639Pro)
|
|
|
NM_206933.4(USH2A):c.14142A>T (p.Ala4714=)
|
|
|
NM_206933.4(USH2A):c.14239T>C (p.Ser4747Pro)
|
rs1657035975
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.14579A>G (p.His4860Arg)
|
|
|
NM_206933.4(USH2A):c.14663C>T (p.Thr4888Met)
|
|
|
NM_206933.4(USH2A):c.14702C>T (p.Pro4901Leu)
|
|
|
NM_206933.4(USH2A):c.14748C>T (p.Gly4916=)
|
rs749572330
|
|
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
|
|
|
NM_206933.4(USH2A):c.14934C>T (p.Asp4978=)
|
|
|
NM_206933.4(USH2A):c.14950C>G (p.Pro4984Ala)
|
|
|
NM_206933.4(USH2A):c.15013A>C (p.Lys5005Gln)
|
|
|
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del)
|
rs1553250595
|
|
NM_206933.4(USH2A):c.151A>T (p.Ile51Phe)
|
rs886043442
|
|
NM_206933.4(USH2A):c.15205A>G (p.Lys5069Glu)
|
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
NM_206933.4(USH2A):c.15519+1dup
|
|
|
NM_206933.4(USH2A):c.1644+5G>C
|
rs1558036810
|
|
NM_206933.4(USH2A):c.1646G>A (p.Cys549Tyr)
|
|
|
NM_206933.4(USH2A):c.1654T>A (p.Cys552Ser)
|
|
|
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg)
|
rs1553327470
|
|
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg)
|
rs768436928
|
|
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe)
|
rs1352007983
|
|
NM_206933.4(USH2A):c.2098G>A (p.Gly700Arg)
|
|
|
NM_206933.4(USH2A):c.263G>T (p.Cys88Phe)
|
rs2039687321
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
NM_206933.4(USH2A):c.2844C>G (p.Cys948Trp)
|
rs753787393
|
|
NM_206933.4(USH2A):c.2866A>G (p.Thr956Ala)
|
|
|
NM_206933.4(USH2A):c.2993+3A>T
|
rs1201261740
|
|
NM_206933.4(USH2A):c.299T>A (p.Leu100His)
|
rs1558082163
|
|
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser)
|
rs2035366945
|
|
NM_206933.4(USH2A):c.3149G>T (p.Cys1050Phe)
|
rs1475306303
|
|
NM_206933.4(USH2A):c.3157+5G>A
|
rs777673655
|
|
NM_206933.4(USH2A):c.3158-2A>G
|
rs878853404
|
|
NM_206933.4(USH2A):c.3455T>C (p.Leu1152Ser)
|
rs2034946086
|
|
NM_206933.4(USH2A):c.35T>G (p.Phe12Cys)
|
|
|
NM_206933.4(USH2A):c.3619A>G (p.Ile1207Val)
|
|
|
NM_206933.4(USH2A):c.3650A>G (p.Asp1217Gly)
|
|
|
NM_206933.4(USH2A):c.3725C>T (p.Pro1242Leu)
|
rs886045954
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
NM_206933.4(USH2A):c.4102C>T (p.Pro1368Ser)
|
rs755867377
|
|
NM_206933.4(USH2A):c.4231A>G (p.Ile1411Val)
|
|
|
NM_206933.4(USH2A):c.4241C>T (p.Ala1414Val)
|
|
|
NM_206933.4(USH2A):c.4251+1G>A
|
rs878853405
|
|
NM_206933.4(USH2A):c.4580A>G (p.Tyr1527Cys)
|
|
|
NM_206933.4(USH2A):c.4627+3_4627+6del
|
|
|
NM_206933.4(USH2A):c.4670T>C (p.Ile1557Thr)
|
rs2032460768
|
|
NM_206933.4(USH2A):c.4730G>T (p.Gly1577Val)
|
rs2032458819
|
|
NM_206933.4(USH2A):c.4819T>C (p.Trp1607Arg)
|
rs2032221850
|
|
NM_206933.4(USH2A):c.4919T>C (p.Ile1640Thr)
|
rs2102563226
|
|
NM_206933.4(USH2A):c.4996C>G (p.Gln1666Glu)
|
|
|
NM_206933.4(USH2A):c.5002G>C (p.Gly1668Arg)
|
|
|
NM_206933.4(USH2A):c.5249A>G (p.Asn1750Ser)
|
|
|
NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly)
|
rs777011507
|
|
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)
|
rs199645514
|
|
NM_206933.4(USH2A):c.5573G>A (p.Gly1858Asp)
|
|
|
NM_206933.4(USH2A):c.5629G>T (p.Ala1877Ser)
|
|
|
NM_206933.4(USH2A):c.5664G>A (p.Leu1888=)
|
rs2102549080
|
|
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=)
|
rs747419030
|
|
NM_206933.4(USH2A):c.5776+1del
|
|
|
NM_206933.4(USH2A):c.5784G>A (p.Leu1928=)
|
|
|
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala)
|
rs2031607129
|
|
NM_206933.4(USH2A):c.5837G>A (p.Arg1946Gln)
|
|
|
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)
|
rs747652397
|
|
NM_206933.4(USH2A):c.5990C>T (p.Thr1997Ile)
|
rs2031510445
|
|
NM_206933.4(USH2A):c.6042C>A (p.Asn2014Lys)
|
|
|
NM_206933.4(USH2A):c.6104G>A (p.Cys2035Tyr)
|
rs878853403
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|
NM_206933.4(USH2A):c.6326-1G>A
|
rs878853411
|
|
NM_206933.4(USH2A):c.6367T>G (p.Cys2123Gly)
|
rs1668244820
|
|
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)
|
rs869312182
|
|
NM_206933.4(USH2A):c.6584A>G (p.Asn2195Ser)
|
|
|
NM_206933.4(USH2A):c.6643C>G (p.Leu2215Val)
|
|
|
NM_206933.4(USH2A):c.6690G>C (p.Glu2230Asp)
|
|
|
NM_206933.4(USH2A):c.6806-2A>C
|
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.6905A>C (p.His2302Pro)
|
rs1208209655
|
|
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr)
|
rs762558966
|
|
NM_206933.4(USH2A):c.7232A>C (p.Gln2411Pro)
|
|
|
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del)
|
rs1665478442
|
|
NM_206933.4(USH2A):c.736A>G (p.Ile246Val)
|
rs746975879
|
|
NM_206933.4(USH2A):c.7416G>C (p.Gln2472His)
|
|
|
NM_206933.4(USH2A):c.7499T>G (p.Leu2500Arg)
|
|
|
NM_206933.4(USH2A):c.7540_7548del (p.Asn2514_Phe2516del)
|
rs766071177
|
|
NM_206933.4(USH2A):c.7572T>G (p.Ile2524Met)
|
|
|
NM_206933.4(USH2A):c.780A>G (p.Leu260=)
|
|
|
NM_206933.4(USH2A):c.7847C>A (p.Thr2616Asn)
|
|
|
NM_206933.4(USH2A):c.785-3C>G
|
rs2037762626
|
|
NM_206933.4(USH2A):c.7870C>T (p.Pro2624Ser)
|
|
|
NM_206933.4(USH2A):c.7932G>C (p.Trp2644Cys)
|
|
|
NM_206933.4(USH2A):c.7949C>G (p.Pro2650Arg)
|
|
|
NM_206933.4(USH2A):c.7972A>G (p.Thr2658Ala)
|
|
|
NM_206933.4(USH2A):c.8075C>T (p.Pro2692Leu)
|
|
|
NM_206933.4(USH2A):c.8105T>G (p.Met2702Arg)
|
|
|
NM_206933.4(USH2A):c.8189C>A (p.Pro2730His)
|
rs1665121843
|
|
NM_206933.4(USH2A):c.8276T>C (p.Ile2759Thr)
|
|
|
NM_206933.4(USH2A):c.8339T>A (p.Val2780Asp)
|
|
|
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)
|
rs762869685
|
|
NM_206933.4(USH2A):c.8682-16C>G
|
rs958618933
|
|
NM_206933.4(USH2A):c.9110G>C (p.Arg3037Pro)
|
|
|
NM_206933.4(USH2A):c.9205C>T (p.Pro3069Ser)
|
|
|
NM_206933.4(USH2A):c.9265G>A (p.Val3089Ile)
|
|
|
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)
|
rs756163056
|
|
NM_206933.4(USH2A):c.9668G>C (p.Cys3223Ser)
|
rs1662773660
|
|
NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del)
|
rs1246009294
|
|
NM_206933.4(USH2A):c.9944A>G (p.Tyr3315Cys)
|
rs1662218841
|
|
NM_206933.4(USH2A):c.9958G>A (p.Gly3320Ser)
|
|
|