NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00108
|
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.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
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.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
|
rs570277510
|
0.00026
|
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)
|
rs138398671
|
0.00026
|
NM_206933.4(USH2A):c.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.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)
|
rs142095945
|
0.00009
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
NM_206933.4(USH2A):c.4397-1G>A
|
rs199982344
|
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.14926G>A (p.Gly4976Ser)
|
rs200761611
|
0.00008
|
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)
|
rs151057466
|
0.00007
|
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)
|
rs201386640
|
0.00007
|
NM_206933.4(USH2A):c.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.1A>G (p.Met1Val)
|
rs924627806
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
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.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.13342_13347del (p.Asp4448_Ser4449del)
|
rs771903291
|
0.00004
|
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
|
rs149807281
|
0.00004
|
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
NM_206933.4(USH2A):c.1972-1G>A
|
rs372927796
|
0.00004
|
NM_206933.4(USH2A):c.486-14G>A
|
rs374536346
|
0.00004
|
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys)
|
rs777682016
|
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.1000C>T (p.Arg334Trp)
|
rs397517963
|
0.00003
|
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)
|
rs780893919
|
0.00003
|
NM_206933.4(USH2A):c.12395T>C (p.Leu4132Pro)
|
rs767712486
|
0.00003
|
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)
|
rs397517984
|
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.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.7595-3C>G
|
rs201657446
|
0.00003
|
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)
|
rs727504721
|
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.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.12284G>A (p.Gly4095Asp)
|
rs759898765
|
0.00002
|
NM_206933.4(USH2A):c.12295-2A>G
|
rs151148854
|
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.15520-1G>A
|
rs767265734
|
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.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.6883G>A (p.Gly2295Arg)
|
rs768253909
|
0.00002
|
NM_206933.4(USH2A):c.6986C>A (p.Pro2329His)
|
rs554957414
|
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.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
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.11155C>T (p.Arg3719Cys)
|
rs758951363
|
0.00001
|
NM_206933.4(USH2A):c.11189A>G (p.Glu3730Gly)
|
rs1341032857
|
0.00001
|
NM_206933.4(USH2A):c.11389+1G>T
|
rs368770647
|
0.00001
|
NM_206933.4(USH2A):c.11389+2dup
|
rs1414433033
|
0.00001
|
NM_206933.4(USH2A):c.11389+3A>T
|
rs753886165
|
0.00001
|
NM_206933.4(USH2A):c.11473del (p.His3825fs)
|
rs774677256
|
0.00001
|
NM_206933.4(USH2A):c.11585C>G (p.Thr3862Arg)
|
rs886044126
|
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.12151G>T (p.Glu4051Ter)
|
rs1262416703
|
0.00001
|
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)
|
rs1064793289
|
0.00001
|
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)
|
rs1172628170
|
0.00001
|
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)
|
rs397517982
|
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.13268C>A (p.Ala4423Asp)
|
rs755480221
|
0.00001
|
NM_206933.4(USH2A):c.13279G>A (p.Gly4427Arg)
|
rs1255592098
|
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.13392G>A (p.Trp4464Ter)
|
rs1219505844
|
0.00001
|
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys)
|
rs1268140508
|
0.00001
|
NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg)
|
rs750418422
|
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.14017T>C (p.Tyr4673His)
|
rs1040917329
|
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.14426C>T (p.Thr4809Ile)
|
rs770553471
|
0.00001
|
NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter)
|
rs1656936749
|
0.00001
|
NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys)
|
rs756570931
|
0.00001
|
NM_206933.4(USH2A):c.14791+5G>T
|
rs1235430504
|
0.00001
|
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys)
|
rs898430789
|
0.00001
|
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val)
|
rs748393788
|
0.00001
|
NM_206933.4(USH2A):c.15200del (p.Ile5067fs)
|
rs1295968274
|
0.00001
|
NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr)
|
rs768813865
|
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.176G>A (p.Gly59Glu)
|
rs1378799607
|
0.00001
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00001
|
NM_206933.4(USH2A):c.2186G>A (p.Cys729Tyr)
|
rs780709977
|
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.232T>G (p.Phe78Val)
|
rs775094277
|
0.00001
|
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)
|
rs547581739
|
0.00001
|
NM_206933.4(USH2A):c.3316+2T>A
|
rs753423216
|
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.4124C>T (p.Ser1375Leu)
|
rs751479180
|
0.00001
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro)
|
rs757315203
|
0.00001
|
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met)
|
rs373599651
|
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.4885+1G>A
|
rs150896588
|
0.00001
|
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro)
|
rs1162305984
|
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.5329C>T (p.Arg1777Trp)
|
rs770329105
|
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.6050-1G>A
|
rs1035024403
|
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.6925T>G (p.Cys2309Gly)
|
rs772407116
|
0.00001
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
NM_206933.4(USH2A):c.7067A>G (p.Asn2356Ser)
|
rs756203141
|
0.00001
|
NM_206933.4(USH2A):c.7300+1G>C
|
rs1343780391
|
0.00001
|
NM_206933.4(USH2A):c.7301-1G>A
|
rs1438496892
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_206933.4(USH2A):c.7594+2del
|
rs762608746
|
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.8758A>G (p.Thr2920Ala)
|
rs762358589
|
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.9071T>A (p.Leu3024His)
|
rs111033456
|
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.9346C>A (p.Pro3116Thr)
|
rs140260219
|
0.00001
|
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)
|
rs267598373
|
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.9920G>A (p.Cys3307Tyr)
|
rs983763783
|
0.00001
|
NM_206933.4(USH2A):c.9959-1G>A
|
rs970237364
|
0.00001
|
GRCh37/hg19 1q41(chr1:216173745-216500996)x1
|
|
|
GRCh37/hg19 1q41(chr1:216260061-216270555)x1
|
|
|
GRCh37/hg19 1q41(chr1:216462622-216465712)x1
|
|
|
NC_000001.10:g.(215963625_215972248)_(216074248_216107957)del
|
|
|
NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del
|
|
|
NC_000001.10:g.(?_215802146)_(215808055_?)dup
|
|
|
NC_000001.10:g.(?_215812487)_(215824153_?)dup
|
|
|
NC_000001.10:g.(?_215820844)_(215824163_?)dup
|
|
|
NC_000001.10:g.(?_215847432)_(215853728_?)dup
|
|
|
NC_000001.10:g.(?_215848781)_(215852314_?)del
|
|
|
NC_000001.10:g.(?_215901352)_(216051242_?)dup
|
|
|
NC_000001.10:g.(?_215914697)_(215914899_?)dup
|
|
|
NC_000001.10:g.(?_215940013)_(215960226_?)dup
|
|
|
NC_000001.10:g.(?_215940031)_(215950286_?)del
|
|
|
NC_000001.10:g.(?_216011333)_(216040512_?)del
|
|
|
NC_000001.10:g.(?_216107948)_(216138831_?)dup
|
|
|
NC_000001.10:g.(?_216107948)_(216144128_?)del
|
|
|
NC_000001.10:g.(?_216107948)_(216166519_?)dup
|
|
|
NC_000001.10:g.(?_216108028)_(216110946_?)del
|
|
|
NC_000001.10:g.(?_216138649)_(216465722_?)dup
|
|
|
NC_000001.10:g.(?_216348570)_(216538437_?)dup
|
|
|
NC_000001.10:g.(?_216372959)_(216373473_?)del
|
|
|
NC_000001.10:g.(?_216380707)_(216382383_?)del
|
|
|
NC_000001.10:g.(?_216405285)_(216424450_?)dup
|
|
|
NC_000001.10:g.(?_216495215)_(216501006_?)dup
|
|
|
NC_000001.11:g.(?_215766671)_(215934805_?)del
|
|
|
NC_000001.11:g.(?_215798897)_(215799135_?)del
|
|
|
NC_000001.11:g.(?_216108034)_(216108100_?)del
|
|
|
NC_000001.11:g.(?_216462679)_(216462739_?)del
|
|
|
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
|
|
|
NM_206933.2(USH2A):c.(4627+1_4628-1)_(4987+1_4988-1)del
|
|
|
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs)
|
rs1064797133
|
|
NM_206933.2(USH2A):c.1644+10004_1972-12164del
|
|
|
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs)
|
rs774573692
|
|
NM_206933.2(USH2A):c.8682delG
|
rs527236120
|
|
NM_206933.2(USH2A):c.9335_9371+8063del
|
|
|
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
|
|
|
NM_206933.2:c.6326-3582_6658-1028del
|
|
|
NM_206933.3(USH2A):c.12295-?_14133+?del
|
|
|
NM_206933.3(USH2A):c.[12448A>G;5012G>A]
|
|
|
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
|
rs397517963
|
|
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.1014_1015insTATT (p.Ala339fs)
|
|
|
NM_206933.4(USH2A):c.10165del (p.Thr3389fs)
|
|
|
NM_206933.4(USH2A):c.10179del (p.Met3393fs)
|
rs1553262411
|
|
NM_206933.4(USH2A):c.10183-1375_10387+1389del
|
|
|
NM_206933.4(USH2A):c.10183-2A>G
|
rs1661818720
|
|
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)
|
rs397517964
|
|
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter)
|
rs1183957540
|
|
NM_206933.4(USH2A):c.10317_10318delinsT (p.Ile3440fs)
|
rs1553261898
|
|
NM_206933.4(USH2A):c.10318del (p.Ile3440fs)
|
rs1553261898
|
|
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
|
|
|
NM_206933.4(USH2A):c.1036A>G (p.Asn346Asp)
|
rs369522997
|
|
NM_206933.4(USH2A):c.1037A>G (p.Asn346Ser)
|
|
|
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile)
|
rs1416602859
|
|
NM_206933.4(USH2A):c.10387+1G>A
|
|
|
NM_206933.4(USH2A):c.10388-2A>G
|
rs1553261479
|
|
NM_206933.4(USH2A):c.10403C>T (p.Pro3468Leu)
|
rs1553261476
|
|
NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter)
|
rs1661687852
|
|
NM_206933.4(USH2A):c.10437G>T (p.Trp3479Cys)
|
|
|
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
|
rs111033379
|
|
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)
|
rs1241034250
|
|
NM_206933.4(USH2A):c.10486G>T (p.Glu3496Ter)
|
|
|
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)
|
rs944675223
|
|
NM_206933.4(USH2A):c.10571C>A (p.Pro3524His)
|
rs1064793288
|
|
NM_206933.4(USH2A):c.10580C>G (p.Ser3527Ter)
|
|
|
NM_206933.4(USH2A):c.10585+1G>A
|
rs2102763351
|
|
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)
|
rs111033439
|
|
NM_206933.4(USH2A):c.10596_10597insAT (p.Tyr3533fs)
|
rs1553261387
|
|
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)
|
rs878853413
|
|
NM_206933.4(USH2A):c.1062G>A (p.Trp354Ter)
|
|
|
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.10641_10645del (p.Ser3548fs)
|
|
|
NM_206933.4(USH2A):c.10643C>A (p.Ser3548Ter)
|
|
|
NM_206933.4(USH2A):c.10709G>T (p.Cys3570Phe)
|
|
|
NM_206933.4(USH2A):c.10711A>G (p.Thr3571Ala)
|
rs763789288
|
|
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val)
|
rs1259758261
|
|
NM_206933.4(USH2A):c.10724G>C (p.Cys3575Ser)
|
rs111033265
|
|
NM_206933.4(USH2A):c.10724G>T (p.Cys3575Phe)
|
|
|
NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn)
|
rs1571681377
|
|
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)
|
rs111033418
|
|
NM_206933.4(USH2A):c.10842_10845del (p.Glu3614fs)
|
rs1553261118
|
|
NM_206933.4(USH2A):c.10843A>T (p.Lys3615Ter)
|
|
|
NM_206933.4(USH2A):c.10862_10863del (p.Lys3621fs)
|
|
|
NM_206933.4(USH2A):c.10939+1G>T
|
|
|
NM_206933.4(USH2A):c.10939+2T>C
|
rs1661573417
|
|
NM_206933.4(USH2A):c.10953C>G (p.Tyr3651Ter)
|
|
|
NM_206933.4(USH2A):c.10984dup (p.Thr3662fs)
|
|
|
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly)
|
rs766505885
|
|
NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter)
|
rs1661140054
|
|
NM_206933.4(USH2A):c.11053T>C (p.Trp3685Arg)
|
|
|
NM_206933.4(USH2A):c.1106T>A (p.Val369Glu)
|
|
|
NM_206933.4(USH2A):c.11099T>A (p.Leu3700Ter)
|
|
|
NM_206933.4(USH2A):c.11100_11104del (p.Tyr3701fs)
|
rs1553259179
|
|
NM_206933.4(USH2A):c.11103T>A (p.Tyr3701Ter)
|
rs143453173
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.1111_1114del (p.Ile371fs)
|
|
|
NM_206933.4(USH2A):c.11120del (p.Lys3707fs)
|
|
|
NM_206933.4(USH2A):c.11189del (p.Glu3730fs)
|
rs1660922779
|
|
NM_206933.4(USH2A):c.11231+1G>A
|
rs111033382
|
|
NM_206933.4(USH2A):c.11231+1G>C
|
rs111033382
|
|
NM_206933.4(USH2A):c.11231+1G>T
|
rs111033382
|
|
NM_206933.4(USH2A):c.11232-1G>A
|
rs2102741367
|
|
NM_206933.4(USH2A):c.11232-1G>C
|
|
|
NM_206933.4(USH2A):c.11232-2A>G
|
|
|
NM_206933.4(USH2A):c.11266G>A (p.Gly3756Ser)
|
|
|
NM_206933.4(USH2A):c.11267G>A (p.Gly3756Asp)
|
|
|
NM_206933.4(USH2A):c.11290dup (p.Ile3764fs)
|
rs1553259060
|
|
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)
|
rs749726310
|
|
NM_206933.4(USH2A):c.11336del (p.Tyr3779fs)
|
rs762070900
|
|
NM_206933.4(USH2A):c.1134_1143+1del
|
|
|
NM_206933.4(USH2A):c.11387C>T (p.Pro3796Leu)
|
|
|
NM_206933.4(USH2A):c.11389+1del
|
rs1414935620
|
|
NM_206933.4(USH2A):c.11389+2del
|
rs2102741149
|
|
NM_206933.4(USH2A):c.11390-1G>A
|
rs2102727580
|
|
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs)
|
rs1553257707
|
|
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs)
|
rs1553257705
|
|
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)
|
rs727505337
|
|
NM_206933.4(USH2A):c.11447dup (p.Thr3817fs)
|
|
|
NM_206933.4(USH2A):c.11507C>T (p.Pro3836Leu)
|
rs1553257685
|
|
NM_206933.4(USH2A):c.11515C>T (p.Gln3839Ter)
|
rs2102727387
|
|
NM_206933.4(USH2A):c.11549-4_11549del
|
rs2102725799
|
|
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.11626A>T (p.Lys3876Ter)
|
|
|
NM_206933.4(USH2A):c.11683G>A (p.Gly3895Arg)
|
|
|
NM_206933.4(USH2A):c.11684G>A (p.Gly3895Glu)
|
rs1472714005
|
|
NM_206933.4(USH2A):c.11694del (p.Asn3899fs)
|
rs1553257502
|
|
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys)
|
rs1386612395
|
|
NM_206933.4(USH2A):c.11703del (p.Phe3901fs)
|
rs1553257497
|
|
NM_206933.4(USH2A):c.1170_1176del (p.Ser391fs)
|
|
|
NM_206933.4(USH2A):c.11712-2A>C
|
rs753505333
|
|
NM_206933.4(USH2A):c.11712-2A>G
|
rs753505333
|
|
NM_206933.4(USH2A):c.11730del (p.Glu3911fs)
|
|
|
NM_206933.4(USH2A):c.11734dup (p.Glu3912fs)
|
rs1553256587
|
|
NM_206933.4(USH2A):c.1173T>A (p.Ser391Arg)
|
|
|
NM_206933.4(USH2A):c.11787_11799del (p.Asp3930fs)
|
|
|
NM_206933.4(USH2A):c.11815dup (p.Glu3939fs)
|
rs1553256576
|
|
NM_206933.4(USH2A):c.11833_11835delinsGGGTCAG (p.Cys3945fs)
|
|
|
NM_206933.4(USH2A):c.11850_11860del (p.Glu3952fs)
|
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.11884G>T (p.Glu3962Ter)
|
|
|
NM_206933.4(USH2A):c.11895del (p.Gln3966fs)
|
rs1659887829
|
|
NM_206933.4(USH2A):c.12045del (p.Val4016fs)
|
|
|
NM_206933.4(USH2A):c.12066+1G>A
|
rs2102713275
|
|
NM_206933.4(USH2A):c.12067-1G>C
|
rs397517977
|
|
NM_206933.4(USH2A):c.12079C>T (p.Gln4027Ter)
|
rs527236138
|
|
NM_206933.4(USH2A):c.12086dup (p.His4029fs)
|
|
|
NM_206933.4(USH2A):c.12161G>T (p.Ser4054Ile)
|
rs1571953381
|
|
NM_206933.4(USH2A):c.12211_12212del (p.Asn4071fs)
|
|
|
NM_206933.4(USH2A):c.12226C>T (p.Gln4076Ter)
|
|
|
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)
|
rs988693758
|
|
NM_206933.4(USH2A):c.12252del (p.Leu4085fs)
|
rs1658179729
|
|
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys)
|
|
|
NM_206933.4(USH2A):c.12269C>T (p.Pro4090Leu)
|
|
|
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)
|
rs2037682180
|
|
NM_206933.4(USH2A):c.1227G>C (p.Trp409Cys)
|
rs397517979
|
|
NM_206933.4(USH2A):c.12294+1G>C
|
rs111033526
|
|
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)
|
rs1657997730
|
|
NM_206933.4(USH2A):c.12309del (p.Phe4103fs)
|
rs1553252528
|
|
NM_206933.4(USH2A):c.1235G>A (p.Trp412Ter)
|
|
|
NM_206933.4(USH2A):c.1236G>A (p.Trp412Ter)
|
rs757525434
|
|
NM_206933.4(USH2A):c.12383A>G (p.Tyr4128Cys)
|
rs2102667066
|
|
NM_206933.4(USH2A):c.12395T>A (p.Leu4132Gln)
|
|
|
NM_206933.4(USH2A):c.12407C>T (p.Thr4136Ile)
|
|
|
NM_206933.4(USH2A):c.12409del (p.Arg4137fs)
|
rs1657992342
|
|
NM_206933.4(USH2A):c.12415G>A (p.Gly4139Ser)
|
|
|
NM_206933.4(USH2A):c.12416G>T (p.Gly4139Val)
|
rs1366681759
|
|
NM_206933.4(USH2A):c.12416del (p.Gly4139fs)
|
|
|
NM_206933.4(USH2A):c.12446G>A (p.Trp4149Ter)
|
|
|
NM_206933.4(USH2A):c.12447G>A (p.Trp4149Ter)
|
|
|
NM_206933.4(USH2A):c.12471_12472del (p.Gln4158fs)
|
|
|
NM_206933.4(USH2A):c.12505_12506del (p.Thr4169fs)
|
|
|
NM_206933.4(USH2A):c.12525G>C (p.Trp4175Cys)
|
rs1657987278
|
|
NM_206933.4(USH2A):c.1255T>C (p.Cys419Arg)
|
|
|
NM_206933.4(USH2A):c.12560G>C (p.Arg4187Pro)
|
|
|
NM_206933.4(USH2A):c.12569T>C (p.Val4190Ala)
|
rs979037444
|
|
NM_206933.4(USH2A):c.12602del (p.Gly4201fs)
|
rs1553252499
|
|
NM_206933.4(USH2A):c.1267G>T (p.Gly423Ter)
|
|
|
NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter)
|
rs1057517844
|
|
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)
|
rs764917754
|
|
NM_206933.4(USH2A):c.12698G>A (p.Trp4233Ter)
|
|
|
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro)
|
rs577938494
|
|
NM_206933.4(USH2A):c.12712T>C (p.Tyr4238His)
|
rs1571949388
|
|
NM_206933.4(USH2A):c.1277dup (p.Asn426fs)
|
rs2037679829
|
|
NM_206933.4(USH2A):c.1279_1280del (p.Asn427fs)
|
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.12848T>C (p.Ile4283Thr)
|
rs754131049
|
|
NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs)
|
rs1553252469
|
|
NM_206933.4(USH2A):c.12913del (p.Met4305fs)
|
rs1657961646
|
|
NM_206933.4(USH2A):c.12958G>A (p.Asp4320Asn)
|
rs140202956
|
|
NM_206933.4(USH2A):c.12961G>T (p.Glu4321Ter)
|
|
|
NM_206933.4(USH2A):c.12984del (p.Tyr4329fs)
|
|
|
NM_206933.4(USH2A):c.12987T>A (p.Tyr4329Ter)
|
|
|
NM_206933.4(USH2A):c.12993T>A (p.Tyr4331Ter)
|
|
|
NM_206933.4(USH2A):c.13010C>G (p.Thr4337Arg)
|
|
|
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)
|
rs527236137
|
|
NM_206933.4(USH2A):c.13018G>A (p.Gly4340Arg)
|
|
|
NM_206933.4(USH2A):c.13018G>C (p.Gly4340Arg)
|
rs2102665930
|
|
NM_206933.4(USH2A):c.13019G>A (p.Gly4340Glu)
|
|
|
NM_206933.4(USH2A):c.13019G>C (p.Gly4340Ala)
|
|
|
NM_206933.4(USH2A):c.13019G>T (p.Gly4340Val)
|
rs1419157426
|
|
NM_206933.4(USH2A):c.13094G>A (p.Trp4365Ter)
|
rs1163061829
|
|
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668
|
|
NM_206933.4(USH2A):c.13167_13170del (p.Lys4388_Tyr4389insTer)
|
|
|
NM_206933.4(USH2A):c.13172_13175del (p.Val4391fs)
|
rs1553252409
|
|
NM_206933.4(USH2A):c.13189G>T (p.Glu4397Ter)
|
|
|
NM_206933.4(USH2A):c.13202G>A (p.Gly4401Asp)
|
|
|
NM_206933.4(USH2A):c.13208del (p.Gly4403fs)
|
|
|
NM_206933.4(USH2A):c.13210del (p.Leu4404fs)
|
rs1190020491
|
|
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.13274C>A (p.Thr4425Lys)
|
rs201238640
|
|
NM_206933.4(USH2A):c.13274C>G (p.Thr4425Arg)
|
rs201238640
|
|
NM_206933.4(USH2A):c.13288_13292del (p.Cys4429_Thr4430insTer)
|
|
|
NM_206933.4(USH2A):c.13301C>A (p.Ser4434Ter)
|
|
|
NM_206933.4(USH2A):c.13301C>G (p.Ser4434Ter)
|
|
|
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_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)
|
rs1553252388
|
|
NM_206933.4(USH2A):c.13337delinsGTC (p.Asn4446fs)
|
rs1553252389
|
|
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.13349C>T (p.Pro4450Leu)
|
rs2102665385
|
|
NM_206933.4(USH2A):c.13436T>G (p.Leu4479Arg)
|
|
|
NM_206933.4(USH2A):c.13447G>T (p.Gly4483Ter)
|
|
|
NM_206933.4(USH2A):c.13466G>A (p.Gly4489Asp)
|
rs527236127
|
|
NM_206933.4(USH2A):c.13482T>A (p.Tyr4494Ter)
|
|
|
NM_206933.4(USH2A):c.13491_13499dup (p.Thr4498_Thr4500dup)
|
rs1349222819
|
|
NM_206933.4(USH2A):c.13515T>A (p.Tyr4505Ter)
|
|
|
NM_206933.4(USH2A):c.13531G>A (p.Ala4511Thr)
|
|
|
NM_206933.4(USH2A):c.13543C>T (p.Gln4515Ter)
|
|
|
NM_206933.4(USH2A):c.13546G>T (p.Gly4516Trp)
|
|
|
NM_206933.4(USH2A):c.13556del (p.Ile4518_Leu4519insTer)
|
rs1553252363
|
|
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)
|
rs746442849
|
|
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs)
|
rs1485393201
|
|
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs)
|
rs1657920193
|
|
NM_206933.4(USH2A):c.13646T>A (p.Leu4549Ter)
|
|
|
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly)
|
rs553956503
|
|
NM_206933.4(USH2A):c.13654T>C (p.Trp4552Arg)
|
|
|
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs)
|
rs1571947757
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.13811+2T>C
|
rs766515318
|
|
NM_206933.4(USH2A):c.13812-1G>A
|
rs199782530
|
|
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)
|
rs367674026
|
|
NM_206933.4(USH2A):c.13834dup (p.Cys4612fs)
|
|
|
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)
|
rs527236124
|
|
NM_206933.4(USH2A):c.13856C>G (p.Ser4619Ter)
|
|
|
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.13942_13943delinsT (p.Gly4648fs)
|
rs1419913594
|
|
NM_206933.4(USH2A):c.13948C>T (p.Gln4650Ter)
|
rs1571945537
|
|
NM_206933.4(USH2A):c.1394_1395delinsA (p.Pro465fs)
|
|
|
NM_206933.4(USH2A):c.13985del (p.Gln4662fs)
|
rs1553252041
|
|
NM_206933.4(USH2A):c.14010C>A (p.Tyr4670Ter)
|
|
|
NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs)
|
rs2102661317
|
|
NM_206933.4(USH2A):c.14019C>A (p.Tyr4673Ter)
|
rs1657799720
|
|
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly)
|
rs80338904
|
|
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)
|
rs1657798642
|
|
NM_206933.4(USH2A):c.14103A>G (p.Glu4701=)
|
|
|
NM_206933.4(USH2A):c.14125dup (p.Glu4709fs)
|
rs1657796004
|
|
NM_206933.4(USH2A):c.14139_14152del (p.Trp4713fs)
|
rs1553250416
|
|
NM_206933.4(USH2A):c.1413dup (p.Asn472Ter)
|
|
|
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)
|
rs397517989
|
|
NM_206933.4(USH2A):c.14205del (p.Glu4736fs)
|
|
|
NM_206933.4(USH2A):c.1421dup (p.Ser475fs)
|
|
|
NM_206933.4(USH2A):c.14222C>T (p.Pro4741Leu)
|
rs1657042446
|
|
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)
|
rs527236126
|
|
NM_206933.4(USH2A):c.14266_14274delinsTG (p.Ser4756fs)
|
|
|
NM_206933.4(USH2A):c.14283_14304del (p.Asn4762fs)
|
|
|
NM_206933.4(USH2A):c.14286C>A (p.Asn4762Lys)
|
rs750368946
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.14288G>T (p.Gly4763Val)
|
|
|
NM_206933.4(USH2A):c.1428_1429del (p.Gln477fs)
|
|
|
NM_206933.4(USH2A):c.14303A>G (p.Tyr4768Cys)
|
rs1657029417
|
|
NM_206933.4(USH2A):c.14343+1G>A
|
rs2102644733
|
|
NM_206933.4(USH2A):c.14344-1G>A
|
rs919142559
|
|
NM_206933.4(USH2A):c.14350G>T (p.Glu4784Ter)
|
rs746837034
|
|
NM_206933.4(USH2A):c.1435_1439del (p.Phe479fs)
|
|
|
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs)
|
rs1553250192
|
|
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)
|
|
|
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)
|
rs1553250184
|
|
NM_206933.4(USH2A):c.14450G>A (p.Gly4817Glu)
|
rs527236125
|
|
NM_206933.4(USH2A):c.14454del (p.Thr4819fs)
|
|
|
NM_206933.4(USH2A):c.144del (p.Val49fs)
|
|
|
NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter)
|
rs766370703
|
|
NM_206933.4(USH2A):c.14569G>A (p.Gly4857Ser)
|
|
|
NM_206933.4(USH2A):c.14570G>T (p.Gly4857Val)
|
|
|
NM_206933.4(USH2A):c.14582+1G>C
|
rs1553250150
|
|
NM_206933.4(USH2A):c.14583-1G>T
|
|
|
NM_206933.4(USH2A):c.14591_14594dup (p.Gln4865fs)
|
|
|
NM_206933.4(USH2A):c.14649del (p.Ile4883fs)
|
rs1656901821
|
|
NM_206933.4(USH2A):c.14661C>A (p.Tyr4887Ter)
|
|
|
NM_206933.4(USH2A):c.14679del (p.Ala4894fs)
|
rs1553250077
|
|
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)
|
rs1553250072
|
|
NM_206933.4(USH2A):c.14739C>A (p.Asn4913Lys)
|
|
|
NM_206933.4(USH2A):c.14747del (p.Gly4916fs)
|
rs2102642087
|
|
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
|
rs754834155
|
|
NM_206933.4(USH2A):c.14787del (p.Glu4930fs)
|
rs34713174
|
|
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>T
|
|
|
NM_206933.4(USH2A):c.1479del (p.Tyr494fs)
|
|
|
NM_206933.4(USH2A):c.14802C>A (p.Tyr4934Ter)
|
|
|
NM_206933.4(USH2A):c.14804_14808del (p.Arg4935fs)
|
|
|
NM_206933.4(USH2A):c.14811del (p.Ser4939fs)
|
|
|
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs)
|
rs1656646221
|
|
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs)
|
rs2102636006
|
|
NM_206933.4(USH2A):c.14893_14900del (p.Val4965fs)
|
|
|
NM_206933.4(USH2A):c.14894_14915del (p.Val4965fs)
|
rs1553249452
|
|
NM_206933.4(USH2A):c.14965_14968dup (p.Thr4990fs)
|
rs781625683
|
|
NM_206933.4(USH2A):c.14967_14968del (p.Lys4989fs)
|
|
|
NM_206933.4(USH2A):c.14968+1G>C
|
|
|
NM_206933.4(USH2A):c.14968+2T>G
|
rs1656640356
|
|
NM_206933.4(USH2A):c.14969-1G>A
|
rs1553249311
|
|
NM_206933.4(USH2A):c.14969-2A>G
|
rs2102634730
|
|
NM_206933.4(USH2A):c.14969-49_15001delinsAA
|
|
|
NM_206933.4(USH2A):c.14990G>A (p.Cys4997Tyr)
|
|
|
NM_206933.4(USH2A):c.1499_1500delinsA (p.Val500fs)
|
|
|
NM_206933.4(USH2A):c.14_15insAAGG (p.Leu6fs)
|
|
|
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)
|
rs1237333884
|
|
NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs)
|
rs1553249294
|
|
NM_206933.4(USH2A):c.15052+1G>A
|
rs1553249290
|
|
NM_206933.4(USH2A):c.15053-1G>A
|
|
|
NM_206933.4(USH2A):c.15053-5_15059del
|
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
NM_206933.4(USH2A):c.15112_15115dup (p.Ser5039fs)
|
|
|
NM_206933.4(USH2A):c.15119_15120dup (p.Leu5041fs)
|
rs1656416727
|
|
NM_206933.4(USH2A):c.15126_15135del (p.Trp5042fs)
|
|
|
NM_206933.4(USH2A):c.15126del (p.Trp5042fs)
|
|
|
NM_206933.4(USH2A):c.15192A>G (p.Gln5064=)
|
|
|
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter)
|
rs1571701072
|
|
NM_206933.4(USH2A):c.15266_15294del (p.Leu5089fs)
|
|
|
NM_206933.4(USH2A):c.15267_15275delinsC (p.Leu5089fs)
|
rs1553248812
|
|
NM_206933.4(USH2A):c.15297+1G>A
|
|
|
NM_206933.4(USH2A):c.15297+1G>T
|
rs767630412
|
|
NM_206933.4(USH2A):c.15298-2A>C
|
|
|
NM_206933.4(USH2A):c.15322del (p.Arg5108fs)
|
rs1553248234
|
|
NM_206933.4(USH2A):c.15338_15339del (p.Val5113fs)
|
|
|
NM_206933.4(USH2A):c.15353del (p.Asn5118fs)
|
rs1553248224
|
|
NM_206933.4(USH2A):c.15371del (p.Leu5124fs)
|
rs1656163649
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
NM_206933.4(USH2A):c.15380del (p.Pro5127fs)
|
rs1553248216
|
|
NM_206933.4(USH2A):c.15388_15389del (p.Asn5130fs)
|
|
|
NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter)
|
rs763463859
|
|
NM_206933.4(USH2A):c.15465dup (p.Val5156fs)
|
rs769582796
|
|
NM_206933.4(USH2A):c.1549del (p.Arg517fs)
|
|
|
NM_206933.4(USH2A):c.1550+2T>C
|
rs2037658254
|
|
NM_206933.4(USH2A):c.1551-1G>A
|
|
|
NM_206933.4(USH2A):c.1551-2A>G
|
|
|
NM_206933.4(USH2A):c.1551-9T>A
|
rs995537756
|
|
NM_206933.4(USH2A):c.1558del (p.Cys520fs)
|
rs878853410
|
|
NM_206933.4(USH2A):c.1562A>G (p.His521Arg)
|
|
|
NM_206933.4(USH2A):c.1571C>A (p.Ala524Asp)
|
|
|
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)
|
rs772624410
|
|
NM_206933.4(USH2A):c.1644+2T>A
|
rs2037617658
|
|
NM_206933.4(USH2A):c.1655G>C (p.Cys552Ser)
|
|
|
NM_206933.4(USH2A):c.1659del (p.Leu553fs)
|
|
|
NM_206933.4(USH2A):c.1672del (p.Asp558fs)
|
rs2037018431
|
|
NM_206933.4(USH2A):c.1722_1723insGA (p.Cys575fs)
|
rs527236121
|
|
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054
|
|
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg)
|
rs1553327470
|
|
NM_206933.4(USH2A):c.1730G>A (p.Cys577Tyr)
|
|
|
NM_206933.4(USH2A):c.1743del (p.Ser583fs)
|
|
|
NM_206933.4(USH2A):c.1751G>A (p.Cys584Tyr)
|
|
|
NM_206933.4(USH2A):c.1757ACA[1] (p.Asn587del)
|
rs2037015853
|
|
NM_206933.4(USH2A):c.1774_1792del (p.Pro592fs)
|
|
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
|
NM_206933.4(USH2A):c.1822T>C (p.Cys608Arg)
|
|
|
NM_206933.4(USH2A):c.1823G>A (p.Cys608Tyr)
|
|
|
NM_206933.4(USH2A):c.1841-1G>A
|
rs2102606531
|
|
NM_206933.4(USH2A):c.1849del (p.Cys617fs)
|
|
|
NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro)
|
rs777701725
|
|
NM_206933.4(USH2A):c.1888del (p.Ala630fs)
|
rs2102606427
|
|
NM_206933.4(USH2A):c.1927_1934del (p.Cys643fs)
|
|
|
NM_206933.4(USH2A):c.1934_1935del (p.Thr645fs)
|
|
|
NM_206933.4(USH2A):c.1965T>G (p.Cys655Trp)
|
rs1558366840
|
|
NM_206933.4(USH2A):c.1971+1G>T
|
rs2036950570
|
|
NM_206933.4(USH2A):c.1979G>A (p.Gly660Glu)
|
|
|
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser)
|
rs1487450999
|
|
NM_206933.4(USH2A):c.1991G>T (p.Cys664Phe)
|
|
|
NM_206933.4(USH2A):c.1994del (p.Lys665fs)
|
|
|
NM_206933.4(USH2A):c.199T>C (p.Cys67Arg)
|
|
|
NM_206933.4(USH2A):c.199T>G (p.Cys67Gly)
|
rs2102788868
|
|
NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter)
|
rs1571623023
|
|
NM_206933.4(USH2A):c.2072G>C (p.Cys691Ser)
|
|
|
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe)
|
rs1352007983
|
|
NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu)
|
rs45555435
|
|
NM_206933.4(USH2A):c.2167+1G>A
|
rs2102551610
|
|
NM_206933.4(USH2A):c.2168-1G>T
|
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.2195G>T (p.Gly732Val)
|
rs1360258103
|
|
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr)
|
rs751035557
|
|
NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)
|
|
|
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)
|
rs777629750
|
|
NM_206933.4(USH2A):c.2293del (p.Gln765fs)
|
rs2036066604
|
|
NM_206933.4(USH2A):c.2296T>A (p.Cys766Ser)
|
|
|
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)
|
|
|
NM_206933.4(USH2A):c.262T>A (p.Cys88Ser)
|
rs2102788720
|
|
NM_206933.4(USH2A):c.264C>A (p.Cys88Ter)
|
rs368798834
|
|
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.2810-1G>A
|
rs778336512
|
|
NM_206933.4(USH2A):c.2810G>T (p.Gly937Val)
|
rs1572074313
|
|
NM_206933.4(USH2A):c.2846_2849del (p.Leu949fs)
|
|
|
NM_206933.4(USH2A):c.2876_2877del (p.Val959fs)
|
|
|
NM_206933.4(USH2A):c.288del (p.Tyr97fs)
|
rs2102788658
|
|
NM_206933.4(USH2A):c.2915G>T (p.Cys972Phe)
|
|
|
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg)
|
rs1171264735
|
|
NM_206933.4(USH2A):c.2962_2964delinsAA (p.His988fs)
|
|
|
NM_206933.4(USH2A):c.2983_2984del (p.Gln995fs)
|
rs2035704899
|
|
NM_206933.4(USH2A):c.2989G>T (p.Gly997Ter)
|
|
|
NM_206933.4(USH2A):c.2994-2A>G
|
rs1553316430
|
|
NM_206933.4(USH2A):c.2996G>T (p.Cys999Phe)
|
rs2102496508
|
|
NM_206933.4(USH2A):c.3005G>C (p.Cys1002Ser)
|
rs1572060087
|
|
NM_206933.4(USH2A):c.302del (p.Phe101fs)
|
rs1553258076
|
|
NM_206933.4(USH2A):c.3072_3075del (p.Lys1024fs)
|
|
|
NM_206933.4(USH2A):c.3081delinsGTATAAGAGACAGT (p.Thr1028fs)
|
|
|
NM_206933.4(USH2A):c.3082_3083del (p.Thr1028fs)
|
|
|
NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala)
|
rs768158580
|
|
NM_206933.4(USH2A):c.3157+1G>A
|
|
|
NM_206933.4(USH2A):c.3158-1G>A
|
rs1231186035
|
|
NM_206933.4(USH2A):c.3158-1G>T
|
|
|
NM_206933.4(USH2A):c.3158-6A>G
|
rs397518010
|
|
NM_206933.4(USH2A):c.3166C>T (p.Gln1056Ter)
|
|
|
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)
|
rs1064797138
|
|
NM_206933.4(USH2A):c.3222G>A (p.Trp1074Ter)
|
|
|
NM_206933.4(USH2A):c.3266T>A (p.Leu1089Ter)
|
|
|
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs)
|
rs748369458
|
|
NM_206933.4(USH2A):c.3317-1G>A
|
rs1553313909
|
|
NM_206933.4(USH2A):c.3327C>A (p.Tyr1109Ter)
|
rs758705873
|
|
NM_206933.4(USH2A):c.3332T>A (p.Leu1111Ter)
|
|
|
NM_206933.4(USH2A):c.3406A>G (p.Ser1136Gly)
|
rs2034947671
|
|
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
|
rs483353055
|
|
NM_206933.4(USH2A):c.3461del (p.Thr1153_Leu1154insTer)
|
|
|
NM_206933.4(USH2A):c.3484_3485del (p.Ser1162fs)
|
|
|
NM_206933.4(USH2A):c.3494_3495del (p.Val1165fs)
|
rs1553313844
|
|
NM_206933.4(USH2A):c.3502dup (p.Thr1168fs)
|
|
|
NM_206933.4(USH2A):c.3506G>A (p.Trp1169Ter)
|
rs2102467034
|
|
NM_206933.4(USH2A):c.3507G>C (p.Trp1169Cys)
|
|
|
NM_206933.4(USH2A):c.3517_3518del (p.Ser1173fs)
|
|
|
NM_206933.4(USH2A):c.3523C>T (p.Gln1175Ter)
|
|
|
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.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.3615_3618dup (p.Ile1207fs)
|
|
|
NM_206933.4(USH2A):c.3623G>A (p.Trp1208Ter)
|
|
|
NM_206933.4(USH2A):c.3639dup (p.Ala1214fs)
|
|
|
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)
|
rs767797828
|
|
NM_206933.4(USH2A):c.3663_3664dup (p.Ala1222fs)
|
|
|
NM_206933.4(USH2A):c.3680dup (p.Cys1228fs)
|
rs1553313793
|
|
NM_206933.4(USH2A):c.3685_3686del (p.Leu1229fs)
|
|
|
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)
|
rs2034938852
|
|
NM_206933.4(USH2A):c.3718del (p.Gln1240fs)
|
|
|
NM_206933.4(USH2A):c.3746C>T (p.Pro1249Leu)
|
|
|
NM_206933.4(USH2A):c.374del (p.Ala125fs)
|
|
|
NM_206933.4(USH2A):c.3811+1G>A
|
|
|
NM_206933.4(USH2A):c.3811+1G>T
|
|
|
NM_206933.4(USH2A):c.3811+2T>A
|
|
|
NM_206933.4(USH2A):c.3811G>T (p.Gly1271Ter)
|
|
|
NM_206933.4(USH2A):c.3812-3_3837dup
|
rs780071028
|
|
NM_206933.4(USH2A):c.3828T>A (p.Tyr1276Ter)
|
|
|
NM_206933.4(USH2A):c.3828T>G (p.Tyr1276Ter)
|
rs2034908815
|
|
NM_206933.4(USH2A):c.3831_3834delinsG (p.Leu1278del)
|
rs1215540106
|
|
NM_206933.4(USH2A):c.3840_3841delinsCT (p.Met1280_Arg1281delinsIleTer)
|
rs2102464408
|
|
NM_206933.4(USH2A):c.387del (p.Phe129fs)
|
rs1484339054
|
|
NM_206933.4(USH2A):c.3891del (p.Gln1298fs)
|
rs1553313551
|
|
NM_206933.4(USH2A):c.3891dup (p.Gln1298fs)
|
|
|
NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs)
|
|
|
NM_206933.4(USH2A):c.3934del (p.Ala1312fs)
|
rs2102464166
|
|
NM_206933.4(USH2A):c.3959C>A (p.Pro1320His)
|
rs771924569
|
|
NM_206933.4(USH2A):c.3967del (p.Thr1322_Met1323insTer)
|
rs527236136
|
|
NM_206933.4(USH2A):c.4000A>T (p.Lys1334Ter)
|
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
NM_206933.4(USH2A):c.4081+1G>A
|
rs2102463697
|
|
NM_206933.4(USH2A):c.4081+1_4081+9del
|
rs2102463667
|
|
NM_206933.4(USH2A):c.4081+2T>C
|
rs1553313505
|
|
NM_206933.4(USH2A):c.4082-2A>G
|
rs1553313340
|
|
NM_206933.4(USH2A):c.4083A>C (p.Ala1361=)
|
|
|
NM_206933.4(USH2A):c.4087del (p.Val1363fs)
|
rs2102460761
|
|
NM_206933.4(USH2A):c.409dup (p.Ser137fs)
|
rs1571805164
|
|
NM_206933.4(USH2A):c.4125_4126insA (p.Tyr1376fs)
|
|
|
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
|
rs2034852728
|
|
NM_206933.4(USH2A):c.4144T>G (p.Trp1382Gly)
|
|
|
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)
|
rs1177198729
|
|
NM_206933.4(USH2A):c.4189T>A (p.Tyr1397Asn)
|
|
|
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs)
|
rs1553313308
|
|
NM_206933.4(USH2A):c.4206_4207insC (p.Ser1403fs)
|
|
|
NM_206933.4(USH2A):c.4225C>T (p.Gln1409Ter)
|
|
|
NM_206933.4(USH2A):c.4251+1G>T
|
rs878853405
|
|
NM_206933.4(USH2A):c.4251+1del
|
rs2102460236
|
|
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His)
|
rs2102460239
|
|
NM_206933.4(USH2A):c.4252-1G>A
|
|
|
NM_206933.4(USH2A):c.4276_4277del (p.Glu1426fs)
|
rs1475129324
|
|
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)
|
rs1230923403
|
|
NM_206933.4(USH2A):c.4321G>T (p.Glu1441Ter)
|
rs869312186
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.4396+1G>A
|
|
|
NM_206933.4(USH2A):c.4397-1del
|
|
|
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)
|
rs1553258122
|
|
NM_206933.4(USH2A):c.4409del (p.Leu1470fs)
|
|
|
NM_206933.4(USH2A):c.4416del (p.Pro1473fs)
|
|
|
NM_206933.4(USH2A):c.4429G>T (p.Gly1477Ter)
|
rs786205452
|
|
NM_206933.4(USH2A):c.4431_4448del (p.Ile1478_Ile1483del)
|
|
|
NM_206933.4(USH2A):c.4478del (p.Leu1493fs)
|
|
|
NM_206933.4(USH2A):c.4481A>T (p.Asn1494Ile)
|
rs2034357761
|
|
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter)
|
rs1553258037
|
|
NM_206933.4(USH2A):c.4577G>T (p.Gly1526Val)
|
|
|
NM_206933.4(USH2A):c.4585A>T (p.Lys1529Ter)
|
|
|
NM_206933.4(USH2A):c.4628-2A>G
|
rs2032462132
|
|
NM_206933.4(USH2A):c.4651A>T (p.Lys1551Ter)
|
|
|
NM_206933.4(USH2A):c.4669_4672del (p.Ile1557fs)
|
rs747891004
|
|
NM_206933.4(USH2A):c.4774del (p.Glu1591_Val1592insTer)
|
|
|
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs)
|
rs1553300558
|
|
NM_206933.4(USH2A):c.4820G>A (p.Trp1607Ter)
|
rs769612846
|
|
NM_206933.4(USH2A):c.4823A>C (p.His1608Pro)
|
rs2032221370
|
|
NM_206933.4(USH2A):c.4823_4835del (p.His1608fs)
|
rs2032220940
|
|
NM_206933.4(USH2A):c.4824T>A (p.His1608Gln)
|
rs2102565260
|
|
NM_206933.4(USH2A):c.4858C>T (p.Gln1620Ter)
|
rs746900872
|
|
NM_206933.4(USH2A):c.485_485+2del
|
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
NM_206933.4(USH2A):c.486-1_625del
|
rs1571801564
|
|
NM_206933.4(USH2A):c.486-2A>C
|
|
|
NM_206933.4(USH2A):c.486-4_486-2del
|
|
|
NM_206933.4(USH2A):c.487T>C (p.Cys163Arg)
|
rs2039619957
|
|
NM_206933.4(USH2A):c.4886-1G>A
|
rs1553300340
|
|
NM_206933.4(USH2A):c.4886-33_4894dup
|
|
|
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.4943T>C (p.Leu1648Pro)
|
rs1558251712
|
|
NM_206933.4(USH2A):c.4945G>C (p.Gly1649Arg)
|
|
|
NM_206933.4(USH2A):c.4945G>T (p.Gly1649Ter)
|
|
|
NM_206933.4(USH2A):c.497A>G (p.Glu166Gly)
|
|
|
NM_206933.4(USH2A):c.4987+1G>A
|
rs768117100
|
|
NM_206933.4(USH2A):c.4988-2A>G
|
rs143521854
|
|
NM_206933.4(USH2A):c.5009T>C (p.Val1670Ala)
|
rs750077857
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5083del (p.Ser1695fs)
|
rs1553300016
|
|
NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly)
|
|
|
NM_206933.4(USH2A):c.5147dup (p.Ala1717fs)
|
|
|
NM_206933.4(USH2A):c.5167+1G>A
|
rs794727408
|
|
NM_206933.4(USH2A):c.5167+1G>C
|
rs794727408
|
|
NM_206933.4(USH2A):c.5167+1G>T
|
rs794727408
|
|
NM_206933.4(USH2A):c.5167G>A (p.Gly1723Arg)
|
rs1342455785
|
|
NM_206933.4(USH2A):c.5288A>T (p.Asp1763Val)
|
|
|
NM_206933.4(USH2A):c.5294T>C (p.Leu1765Pro)
|
rs2102559645
|
|
NM_206933.4(USH2A):c.5298+1G>T
|
|
|
NM_206933.4(USH2A):c.5391_5395del (p.Asn1797fs)
|
|
|
NM_206933.4(USH2A):c.5399G>T (p.Trp1800Leu)
|
|
|
NM_206933.4(USH2A):c.5447T>A (p.Val1816Glu)
|
rs777011507
|
|
NM_206933.4(USH2A):c.5476_5482dup (p.Asp1828fs)
|
|
|
NM_206933.4(USH2A):c.5485C>T (p.Gln1829Ter)
|
rs2102554289
|
|
NM_206933.4(USH2A):c.5498T>A (p.Val1833Glu)
|
rs2102554268
|
|
NM_206933.4(USH2A):c.5499_5511del (p.Asn1834fs)
|
rs1553299046
|
|
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)
|
rs199645514
|
|
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)
|
rs886039867
|
|
NM_206933.4(USH2A):c.5519G>A (p.Gly1840Glu)
|
|
|
NM_206933.4(USH2A):c.5522G>A (p.Gly1841Glu)
|
|
|
NM_206933.4(USH2A):c.5522G>T (p.Gly1841Val)
|
|
|
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.5546_5547del (p.Ser1849fs)
|
rs1571941465
|
|
NM_206933.4(USH2A):c.5550T>A (p.Tyr1850Ter)
|
rs763831329
|
|
NM_206933.4(USH2A):c.5552delinsTT (p.Gln1851fs)
|
|
|
NM_206933.4(USH2A):c.5566G>T (p.Glu1856Ter)
|
|
|
NM_206933.4(USH2A):c.5582G>T (p.Gly1861Val)
|
|
|
NM_206933.4(USH2A):c.5588dup (p.Met1863fs)
|
|
|
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)
|
rs1553298240
|
|
NM_206933.4(USH2A):c.5603_5613del (p.Phe1868fs)
|
|
|
NM_206933.4(USH2A):c.5613_5614insTTAACTTG (p.Ala1872fs)
|
rs2102549174
|
|
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.5614delinsTTAAGTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.5777-2A>C
|
rs1064797136
|
|
NM_206933.4(USH2A):c.5781C>G (p.Tyr1927Ter)
|
|
|
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)
|
rs397518021
|
|
NM_206933.4(USH2A):c.5831G>A (p.Trp1944Ter)
|
|
|
NM_206933.4(USH2A):c.5857+1G>C
|
rs2031604509
|
|
NM_206933.4(USH2A):c.5858-1G>A
|
rs397518023
|
|
NM_206933.4(USH2A):c.5865_5866del (p.Ser1956fs)
|
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.5883_5884del (p.Arg1962fs)
|
rs1553297684
|
|
NM_206933.4(USH2A):c.5902G>T (p.Gly1968Ter)
|
|
|
NM_206933.4(USH2A):c.5903del (p.Gly1968fs)
|
|
|
NM_206933.4(USH2A):c.5933del (p.Pro1978fs)
|
|
|
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)
|
rs747652397
|
|
NM_206933.4(USH2A):c.6050-2A>G
|
rs772124060
|
|
NM_206933.4(USH2A):c.6056T>A (p.Leu2019Ter)
|
|
|
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
|
|
|
NM_206933.4(USH2A):c.6103T>G (p.Cys2035Gly)
|
rs2030621345
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter)
|
rs1209837469
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.6163+1G>A
|
rs2030617696
|
|
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs)
|
rs1553294144
|
|
NM_206933.4(USH2A):c.6193A>T (p.Lys2065Ter)
|
|
|
NM_206933.4(USH2A):c.6225G>T (p.Trp2075Cys)
|
rs1553294134
|
|
NM_206933.4(USH2A):c.6267T>A (p.Cys2089Ter)
|
rs755646290
|
|
NM_206933.4(USH2A):c.6269T>G (p.Leu2090Ter)
|
|
|
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)
|
rs111033268
|
|
NM_206933.4(USH2A):c.6325+2T>G
|
|
|
NM_206933.4(USH2A):c.6326-10882_6326-10769del
|
rs2102492616
|
|
NM_206933.4(USH2A):c.6326-1G>A
|
rs878853411
|
|
NM_206933.4(USH2A):c.6326-1G>T
|
|
|
NM_206933.4(USH2A):c.6326-2A>G
|
rs1553287118
|
|
NM_206933.4(USH2A):c.6326-3_6332del
|
rs1553287116
|
|
NM_206933.4(USH2A):c.6354del (p.Leu2119fs)
|
rs2102483305
|
|
NM_206933.4(USH2A):c.6383G>C (p.Cys2128Ser)
|
rs2102483271
|
|
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.6416dup (p.Gln2140fs)
|
|
|
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)
|
rs869312182
|
|
NM_206933.4(USH2A):c.6451del (p.Val2150_Leu2151insTer)
|
rs2102483177
|
|
NM_206933.4(USH2A):c.6470del (p.Arg2157fs)
|
rs878853414
|
|
NM_206933.4(USH2A):c.647T>G (p.Val216Gly)
|
rs1571801514
|
|
NM_206933.4(USH2A):c.6485+1G>A
|
rs1553287070
|
|
NM_206933.4(USH2A):c.6485+5del
|
|
|
NM_206933.4(USH2A):c.6486-1G>A
|
rs2102482051
|
|
NM_206933.4(USH2A):c.6486-2A>G
|
|
|
NM_206933.4(USH2A):c.651+1G>A
|
rs1553257761
|
|
NM_206933.4(USH2A):c.6516del (p.Leu2173fs)
|
|
|
NM_206933.4(USH2A):c.652-1G>A
|
|
|
NM_206933.4(USH2A):c.652-2A>G
|
rs2038569690
|
|
NM_206933.4(USH2A):c.6520G>T (p.Glu2174Ter)
|
|
|
NM_206933.4(USH2A):c.6569G>A (p.Trp2190Ter)
|
|
|
NM_206933.4(USH2A):c.658C>T (p.Gln220Ter)
|
|
|
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)
|
rs794727579
|
|
NM_206933.4(USH2A):c.6653T>C (p.Leu2218Pro)
|
|
|
NM_206933.4(USH2A):c.6657+1G>T
|
|
|
NM_206933.4(USH2A):c.6657+2T>C
|
|
|
NM_206933.4(USH2A):c.6675dup (p.Cys2226fs)
|
rs1553285970
|
|
NM_206933.4(USH2A):c.6708_6717del (p.Asp2237fs)
|
rs1553285944
|
|
NM_206933.4(USH2A):c.6721C>A (p.Pro2241Thr)
|
|
|
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser)
|
rs111033412
|
|
NM_206933.4(USH2A):c.6722C>A (p.Pro2241His)
|
rs1057518826
|
|
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.675_678del (p.Phe225fs)
|
rs2102708663
|
|
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.6805G>C (p.Gly2269Arg)
|
rs1668037260
|
|
NM_206933.4(USH2A):c.6806-2A>G
|
rs765217736
|
|
NM_206933.4(USH2A):c.6810del (p.Ile2271fs)
|
rs1553282707
|
|
NM_206933.4(USH2A):c.6831T>A (p.Tyr2277Ter)
|
|
|
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His)
|
rs1421761057
|
|
NM_206933.4(USH2A):c.685G>C (p.Gly229Arg)
|
rs2038568675
|
|
NM_206933.4(USH2A):c.6868dup (p.Ser2290fs)
|
rs1553282698
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.6929C>G (p.Thr2310Arg)
|
|
|
NM_206933.4(USH2A):c.6937G>A (p.Gly2313Ser)
|
|
|
NM_206933.4(USH2A):c.6937G>C (p.Gly2313Arg)
|
|
|
NM_206933.4(USH2A):c.6949G>C (p.Gly2317Arg)
|
rs2102458324
|
|
NM_206933.4(USH2A):c.6957+1G>C
|
rs2102458321
|
|
NM_206933.4(USH2A):c.698del (p.Asp233fs)
|
|
|
NM_206933.4(USH2A):c.6992G>A (p.Gly2331Glu)
|
|
|
NM_206933.4(USH2A):c.69del (p.Tyr24fs)
|
rs2102789194
|
|
NM_206933.4(USH2A):c.7018C>T (p.Gln2340Ter)
|
|
|
NM_206933.4(USH2A):c.7037A>G (p.His2346Arg)
|
|
|
NM_206933.4(USH2A):c.703dup (p.Thr235fs)
|
|
|
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
|
|
|
NM_206933.4(USH2A):c.7059del (p.Arg2354fs)
|
|
|
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs)
|
rs1667314337
|
|
NM_206933.4(USH2A):c.7104_7105dup (p.Phe2369fs)
|
rs1553281890
|
|
NM_206933.4(USH2A):c.7120+1475A>G
|
|
|
NM_206933.4(USH2A):c.7120+1G>A
|
rs1667311758
|
|
NM_206933.4(USH2A):c.7121-1G>T
|
rs2102499826
|
|
NM_206933.4(USH2A):c.7130dup (p.Asn2377fs)
|
rs1553277866
|
|
NM_206933.4(USH2A):c.7184_7194del (p.Leu2395fs)
|
rs2102499717
|
|
NM_206933.4(USH2A):c.7252C>T (p.Gln2418Ter)
|
|
|
NM_206933.4(USH2A):c.725dup (p.Ser243fs)
|
rs1195779037
|
|
NM_206933.4(USH2A):c.7305dup (p.Asp2436fs)
|
|
|
NM_206933.4(USH2A):c.734_735del (p.Ser245fs)
|
|
|
NM_206933.4(USH2A):c.7358T>A (p.Val2453Asp)
|
rs1553274531
|
|
NM_206933.4(USH2A):c.7415A>C (p.Gln2472Pro)
|
rs2102470142
|
|
NM_206933.4(USH2A):c.7451+1G>A
|
rs541848371
|
|
NM_206933.4(USH2A):c.7451+1G>T
|
|
|
NM_206933.4(USH2A):c.7451+2T>A
|
rs2102470099
|
|
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter)
|
rs483353056
|
|
NM_206933.4(USH2A):c.7479_7480dup (p.Ser2494fs)
|
|
|
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)
|
rs1553274448
|
|
NM_206933.4(USH2A):c.7531del (p.Val2511fs)
|
rs1553274435
|
|
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)
|
rs1553274424
|
|
NM_206933.4(USH2A):c.7588del (p.Glu2530fs)
|
rs1665448415
|
|
NM_206933.4(USH2A):c.7595-1G>A
|
rs1553273421
|
|
NM_206933.4(USH2A):c.7595-1G>T
|
rs1553273421
|
|
NM_206933.4(USH2A):c.7595-2A>G
|
rs1064795047
|
|
NM_206933.4(USH2A):c.7595-3_7596delinsGAGAG
|
|
|
NM_206933.4(USH2A):c.7620del (p.Leu2541fs)
|
rs1553273412
|
|
NM_206933.4(USH2A):c.769G>A (p.Gly257Arg)
|
|
|
NM_206933.4(USH2A):c.770G>T (p.Gly257Val)
|
|
|
NM_206933.4(USH2A):c.7788_7799delinsA (p.Tyr2596_Val2600delinsTer)
|
|
|
NM_206933.4(USH2A):c.7809C>A (p.Cys2603Ter)
|
|
|
NM_206933.4(USH2A):c.781_784+1375del
|
|
|
NM_206933.4(USH2A):c.784+14389G>T
|
|
|
NM_206933.4(USH2A):c.784+2T>C
|
rs2038566039
|
|
NM_206933.4(USH2A):c.7843C>T (p.Gln2615Ter)
|
|
|
NM_206933.4(USH2A):c.785-1G>A
|
rs2037762589
|
|
NM_206933.4(USH2A):c.785-2A>C
|
|
|
NM_206933.4(USH2A):c.7862del (p.Pro2621fs)
|
rs2102460381
|
|
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.793C>T (p.Gln265Ter)
|
|
|
NM_206933.4(USH2A):c.7940del (p.Pro2647fs)
|
rs1665132445
|
|
NM_206933.4(USH2A):c.7950del (p.Asn2651fs)
|
|
|
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)
|
rs886041502
|
|
NM_206933.4(USH2A):c.811C>T (p.Gln271Ter)
|
|
|
NM_206933.4(USH2A):c.8182C>T (p.Gln2728Ter)
|
|
|
NM_206933.4(USH2A):c.8195_8199dup (p.Val2734Ter)
|
|
|
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)
|
rs397518036
|
|
NM_206933.4(USH2A):c.8223+1G>C
|
rs1553273280
|
|
NM_206933.4(USH2A):c.8223+1G>T
|
|
|
NM_206933.4(USH2A):c.8233A>T (p.Lys2745Ter)
|
|
|
NM_206933.4(USH2A):c.8240del (p.Pro2747fs)
|
rs1553272201
|
|
NM_206933.4(USH2A):c.8266del (p.Ser2756fs)
|
rs1558141330
|
|
NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala)
|
rs1188281491
|
|
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)
|
rs1553250952
|
|
NM_206933.4(USH2A):c.8303T>A (p.Leu2768Ter)
|
|
|
NM_206933.4(USH2A):c.8386_8389del (p.Cys2796fs)
|
|
|
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe)
|
rs2037760521
|
|
NM_206933.4(USH2A):c.8391del (p.Gly2799fs)
|
rs1553272176
|
|
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)
|
rs2037760415
|
|
NM_206933.4(USH2A):c.847A>G (p.Arg283Gly)
|
rs2102658767
|
|
NM_206933.4(USH2A):c.848+1G>T
|
rs2102658764
|
|
NM_206933.4(USH2A):c.848+2T>C
|
rs2102658759
|
|
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter)
|
rs2102451648
|
|
NM_206933.4(USH2A):c.849-2A>G
|
rs2102656326
|
|
NM_206933.4(USH2A):c.8500G>T (p.Glu2834Ter)
|
|
|
NM_206933.4(USH2A):c.850G>T (p.Glu284Ter)
|
|
|
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)
|
rs762869685
|
|
NM_206933.4(USH2A):c.8557del (p.Arg2853fs)
|
|
|
NM_206933.4(USH2A):c.8558+1G>T
|
rs770383273
|
|
NM_206933.4(USH2A):c.8558+5G>A
|
rs746331566
|
|
NM_206933.4(USH2A):c.8559-1G>C
|
|
|
NM_206933.4(USH2A):c.8576G>C (p.Arg2859Pro)
|
|
|
NM_206933.4(USH2A):c.8638_8641del (p.Tyr2880fs)
|
rs1553272035
|
|
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs)
|
rs1553272035
|
|
NM_206933.4(USH2A):c.8655_8681+1681del
|
|
|
NM_206933.4(USH2A):c.8659dup (p.Tyr2887fs)
|
rs1664810877
|
|
NM_206933.4(USH2A):c.8668A>T (p.Lys2890Ter)
|
|
|
NM_206933.4(USH2A):c.8668_8669dup (p.Gly2891fs)
|
|
|
NM_206933.4(USH2A):c.8682-1G>A
|
rs1553271001
|
|
NM_206933.4(USH2A):c.8682-2A>C
|
rs1553271002
|
|
NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg)
|
rs1571762632
|
|
NM_206933.4(USH2A):c.8835G>A (p.Trp2945Ter)
|
rs1553270960
|
|
NM_206933.4(USH2A):c.8845+1G>A
|
rs1553270954
|
|
NM_206933.4(USH2A):c.8846-1G>T
|
rs771051185
|
|
NM_206933.4(USH2A):c.8846-2A>G
|
rs1553268594
|
|
NM_206933.4(USH2A):c.8846-2A>T
|
rs1553268594
|
|
NM_206933.4(USH2A):c.8859del (p.Gln2954fs)
|
rs1663836291
|
|
NM_206933.4(USH2A):c.8860C>T (p.Gln2954Ter)
|
|
|
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)
|
rs1553268582
|
|
NM_206933.4(USH2A):c.9048C>A (p.Cys3016Ter)
|
rs1057519208
|
|
NM_206933.4(USH2A):c.9055+1G>A
|
rs1553268562
|
|
NM_206933.4(USH2A):c.9055+1del
|
rs1553268563
|
|
NM_206933.4(USH2A):c.9055G>T (p.Glu3019Ter)
|
|
|
NM_206933.4(USH2A):c.9106_9110del (p.Val3036fs)
|
|
|
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)
|
rs1269642027
|
|
NM_206933.4(USH2A):c.9191del (p.Thr3064fs)
|
rs1553268435
|
|
NM_206933.4(USH2A):c.9201T>A (p.Asn3067Lys)
|
|
|
NM_206933.4(USH2A):c.9226_9227del (p.Asp3076fs)
|
rs1553268434
|
|
NM_206933.4(USH2A):c.9249T>A (p.Tyr3083Ter)
|
|
|
NM_206933.4(USH2A):c.9258+1G>T
|
rs748810737
|
|
NM_206933.4(USH2A):c.9258+2T>C
|
|
|
NM_206933.4(USH2A):c.9259-503_9371+1650del
|
|
|
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu)
|
rs1359713084
|
|
NM_206933.4(USH2A):c.9307del (p.Ile3103fs)
|
rs1558121260
|
|
NM_206933.4(USH2A):c.9315del (p.Val3106fs)
|
|
|
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)
|
rs536593247
|
|
NM_206933.4(USH2A):c.9370A>G (p.Arg3124Gly)
|
rs1453306308
|
|
NM_206933.4(USH2A):c.9379C>T (p.Gln3127Ter)
|
|
|
NM_206933.4(USH2A):c.9386_9389del (p.Asp3129fs)
|
|
|
NM_206933.4(USH2A):c.9389G>T (p.Trp3130Leu)
|
|
|
NM_206933.4(USH2A):c.9391dup (p.Val3131fs)
|
rs2102796558
|
|
NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn)
|
rs1571715796
|
|
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.9453T>A (p.Tyr3151Ter)
|
rs1553265829
|
|
NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer)
|
rs2102796345
|
|
NM_206933.4(USH2A):c.956del (p.Cys319fs)
|
|
|
NM_206933.4(USH2A):c.9607G>T (p.Gly3203Ter)
|
|
|
NM_206933.4(USH2A):c.9625G>T (p.Glu3209Ter)
|
|
|
NM_206933.4(USH2A):c.9638del (p.Pro3213fs)
|
rs1662774674
|
|
NM_206933.4(USH2A):c.9650dup (p.Asn3217fs)
|
|
|
NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter)
|
rs1662771528
|
|
NM_206933.4(USH2A):c.9723C>A (p.Tyr3241Ter)
|
|
|
NM_206933.4(USH2A):c.9739+1G>C
|
rs2102792994
|
|
NM_206933.4(USH2A):c.9740-1G>A
|
rs1662239185
|
|
NM_206933.4(USH2A):c.9740-2A>G
|
rs2102778824
|
|
NM_206933.4(USH2A):c.9763C>T (p.Gln3255Ter)
|
rs1662226257
|
|
NM_206933.4(USH2A):c.9785G>T (p.Gly3262Val)
|
rs1553263639
|
|
NM_206933.4(USH2A):c.9800G>T (p.Cys3267Phe)
|
rs1662225276
|
|
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter)
|
rs863224941
|
|
NM_206933.4(USH2A):c.9846T>A (p.Cys3282Ter)
|
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_206933.4(USH2A):c.987_988insTAA (p.Asn330Ter)
|
rs2102655994
|
|
NM_206933.4(USH2A):c.987dup (p.Asn330Ter)
|
|
|
NM_206933.4(USH2A):c.9880T>A (p.Cys3294Ser)
|
|
|
NM_206933.4(USH2A):c.9881G>T (p.Cys3294Phe)
|
rs2102778597
|
|
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp)
|
rs780036975
|
|
NM_206933.4(USH2A):c.9894_9895del (p.Gln3298fs)
|
|
|
NM_206933.4(USH2A):c.98C>A (p.Ser33Ter)
|
rs2039690812
|
|
NM_206933.4(USH2A):c.9911T>G (p.Leu3304Ter)
|
|
|
NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)
|
|
|
NM_206933.4(USH2A):c.9919T>A (p.Cys3307Ser)
|
rs1553263572
|
|
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)
|
rs1571703801
|
|
NM_206933.4(USH2A):c.9945C>A (p.Tyr3315Ter)
|
rs1161652737
|
|
NM_206933.4(USH2A):c.9958+1G>C
|
|
|
NM_206933.4(USH2A):c.9958+2T>C
|
rs2102778466
|
|
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)
|
rs1285853856
|
|
NM_206933.4(USH2A):c.9959-2A>G
|
rs1661946523
|
|
NM_206933.4(USH2A):c.9959-4159A>G
|
rs1662067653
|
|
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)
|
rs1288381992
|
|
NM_206933.4(USH2A):c.997_998delinsA (p.Ser333fs)
|
|
|
Single allele
|
|
|