NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
NM_206933.4(USH2A):c.15297+3A>G
|
rs57754754
|
0.00327
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly)
|
rs146892520
|
0.00098
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe)
|
rs111033333
|
0.00063
|
NM_206933.4(USH2A):c.15298-1176A>G
|
rs144467375
|
0.00059
|
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.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)
|
rs138398671
|
0.00026
|
NM_206933.4(USH2A):c.7167C>T (p.Ser2389=)
|
rs200243588
|
0.00026
|
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)
|
rs150982499
|
0.00023
|
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)
|
rs150230450
|
0.00023
|
NM_206933.4(USH2A):c.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.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
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.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
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.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)
|
rs534656527
|
0.00005
|
NM_206933.4(USH2A):c.9286G>A (p.Val3096Met)
|
rs147267500
|
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.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.11241C>A (p.Tyr3747Ter)
|
rs777465132
|
0.00003
|
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)
|
rs397517984
|
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.9571-2A>G
|
rs751111524
|
0.00003
|
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.1859G>T (p.Cys620Phe)
|
rs758571672
|
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.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser)
|
rs777043718
|
0.00001
|
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)
|
rs780308389
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.11473del (p.His3825fs)
|
rs774677256
|
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.12739G>A (p.Gly4247Arg)
|
rs397517982
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.14134-3169A>G
|
rs998302546
|
0.00001
|
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)
|
rs770553471
|
0.00001
|
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590
|
0.00001
|
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00001
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00001
|
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)
|
rs775177930
|
0.00001
|
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)
|
rs764797292
|
0.00001
|
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
|
rs751479180
|
0.00001
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)
|
rs758095361
|
0.00001
|
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)
|
rs745350407
|
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.5776+1G>A
|
rs876657731
|
0.00001
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
NM_206933.4(USH2A):c.7300+1G>C
|
rs1343780391
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu)
|
rs549796389
|
0.00001
|
NM_206933.4(USH2A):c.8681+1G>A
|
rs876657733
|
0.00001
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)
|
rs111033456
|
0.00001
|
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser)
|
rs748465849
|
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.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NC_000001.10:g.(215963625_215972248)_(216074248_216107957)del
|
|
|
NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del
|
|
|
NC_000001.10:g.(216462753_216465516)_(216465713_216495224)del
|
|
|
NC_000001.10:g.(?_216011333)_(216040512_?)del
|
|
|
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)
|
rs727503731
|
|
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
|
|
|
NM_206933.2(USH2A):c.(?_4628)_(9371_?)del
|
|
|
NM_206933.2(USH2A):c.1644+10004_1972-12164del
|
|
|
NM_206933.3(USH2A):c.12295-?_14133+?del
|
|
|
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter)
|
rs1403618793
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys)
|
rs757682417
|
|
NM_206933.4(USH2A):c.10183-1375_10387+1389del
|
|
|
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
|
|
|
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)
|
rs878853413
|
|
NM_206933.4(USH2A):c.11390-1G>A
|
rs2102727580
|
|
NM_206933.4(USH2A):c.1144-2A>T
|
rs2037686445
|
|
NM_206933.4(USH2A):c.11639C>A (p.Ser3880Ter)
|
|
|
NM_206933.4(USH2A):c.11694del (p.Asn3899fs)
|
rs1553257502
|
|
NM_206933.4(USH2A):c.12211_12212del (p.Asn4071fs)
|
|
|
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)
|
rs2037682180
|
|
NM_206933.4(USH2A):c.12309del (p.Phe4103fs)
|
rs1553252528
|
|
NM_206933.4(USH2A):c.12599G>A (p.Trp4200Ter)
|
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)
|
rs762159022
|
|
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)
|
rs1293619630
|
|
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly)
|
rs553956503
|
|
NM_206933.4(USH2A):c.13750dup (p.Thr4584fs)
|
rs1553252328
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs)
|
rs2102661317
|
|
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)
|
|
|
NM_206933.4(USH2A):c.14537C>T (p.Ser4846Phe)
|
|
|
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs)
|
rs2102636006
|
|
NM_206933.4(USH2A):c.14969-2A>G
|
rs2102634730
|
|
NM_206933.4(USH2A):c.14990G>A (p.Cys4997Tyr)
|
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)
|
rs758660532
|
|
NM_206933.4(USH2A):c.1636G>T (p.Gly546Ter)
|
|
|
NM_206933.4(USH2A):c.1803del (p.Gly602fs)
|
rs1553327452
|
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
|
NM_206933.4(USH2A):c.1888del (p.Ala630fs)
|
rs2102606427
|
|
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)
|
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
NM_206933.4(USH2A):c.263_340del (p.Cys88_Asn114delinsTyr)
|
|
|
NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser)
|
rs1553316429
|
|
NM_206933.4(USH2A):c.3158-6A>G
|
rs397518010
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
|
rs483353055
|
|
NM_206933.4(USH2A):c.3541_3542delinsGTCC (p.Lys1181fs)
|
|
|
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.3831_3834delinsG (p.Leu1278del)
|
rs1215540106
|
|
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
|
rs2034852728
|
|
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.4251+1del
|
rs2102460236
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.4361_4371del (p.Thr1454fs)
|
|
|
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)
|
rs1553258122
|
|
NM_206933.4(USH2A):c.4667T>A (p.Leu1556Ter)
|
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly)
|
|
|
NM_206933.4(USH2A):c.5288A>T (p.Asp1763Val)
|
|
|
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)
|
rs886039867
|
|
NM_206933.4(USH2A):c.5588dup (p.Met1863fs)
|
|
|
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)
|
rs1553298240
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.632G>A (p.Trp211Ter)
|
rs727504893
|
|
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)
|
rs869312182
|
|
NM_206933.4(USH2A):c.651+1G>A
|
rs1553257761
|
|
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs)
|
rs1667472317
|
|
NM_206933.4(USH2A):c.698del (p.Asp233fs)
|
|
|
NM_206933.4(USH2A):c.703dup (p.Thr235fs)
|
|
|
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs)
|
rs1667314337
|
|
NM_206933.4(USH2A):c.7479_7480dup (p.Ser2494fs)
|
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_206933.4(USH2A):c.7795C>T (p.Gln2599Ter)
|
|
|
NM_206933.4(USH2A):c.7862del (p.Pro2621fs)
|
rs2102460381
|
|
NM_206933.4(USH2A):c.7871del (p.Pro2624fs)
|
|
|
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)
|
rs398124620
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)
|
rs397518036
|
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NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)
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rs397518036
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NM_206933.4(USH2A):c.8324T>G (p.Val2775Gly)
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NM_206933.4(USH2A):c.838C>T (p.Leu280Phe)
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rs2037760521
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NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)
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rs2037760415
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NM_206933.4(USH2A):c.8576G>C (p.Arg2859Pro)
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NM_206933.4(USH2A):c.895del (p.Gln299fs)
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rs1338169194
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NM_206933.4(USH2A):c.920_923dup (p.His308fs)
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rs397518043
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NM_206933.4(USH2A):c.9258+1G>T
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rs748810737
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NM_206933.4(USH2A):c.9315del (p.Val3106fs)
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NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
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rs397518048
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NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter)
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rs1662880811
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NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)
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rs73090721
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NM_206933.4(USH2A):c.9538del (p.Cys3180fs)
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rs36108227
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NM_206933.4(USH2A):c.956G>T (p.Cys319Phe)
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|
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NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
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rs1388040238
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NM_206933.4(USH2A):c.9945dup (p.Asn3316fs)
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