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.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
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.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
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.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.2802T>G (p.Cys934Trp)
|
rs201527662
|
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.13342_13347del (p.Asp4448_Ser4449del)
|
rs771903291
|
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.9570+1G>A
|
rs760225886
|
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.1606T>C (p.Cys536Arg)
|
rs111033273
|
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.1001G>A (p.Arg334Gln)
|
rs758303489
|
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.12295-2A>G
|
rs151148854
|
0.00002
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
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.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)
|
rs757154662
|
0.00002
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
0.00002
|
NM_206933.4(USH2A):c.779T>G (p.Leu260Ter)
|
rs121912598
|
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.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00002
|
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.11105G>A (p.Trp3702Ter)
|
rs1057519193
|
0.00001
|
NM_206933.4(USH2A):c.11389+3A>T
|
rs753886165
|
0.00001
|
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)
|
rs1358947010
|
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.13112_13115del (p.Gln4371fs)
|
rs768161313
|
0.00001
|
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)
|
rs111033385
|
0.00001
|
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)
|
rs1003869920
|
0.00001
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
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.2168-1G>C
|
rs748961218
|
0.00001
|
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)
|
rs886039449
|
0.00001
|
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter)
|
rs727503736
|
0.00001
|
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)
|
rs767078782
|
0.00001
|
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)
|
rs1394737087
|
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.3883C>T (p.Arg1295Ter)
|
rs764797292
|
0.00001
|
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)
|
rs769198746
|
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.538T>C (p.Ser180Pro)
|
rs1171672823
|
0.00001
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
NM_206933.4(USH2A):c.5572+1G>A
|
rs775293551
|
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.6224G>A (p.Trp2075Ter)
|
rs111033386
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter)
|
rs200712760
|
0.00001
|
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)
|
rs1064797134
|
0.00001
|
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter)
|
rs760302201
|
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.9258+1G>A
|
rs748810737
|
0.00001
|
NM_206933.4(USH2A):c.9372-1G>A
|
rs1558111861
|
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.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)
|
rs141672841
|
0.00001
|
GRCh37/hg19 1q41(chr1:216138660-216270555)
|
|
|
NC_000001.10:g.216144119_216591855del447737
|
|
|
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
|
|
|
NC_000001.11:g.(?_216270461)_(216260162_?)del
|
|
|
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs)
|
rs1564634581
|
|
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter)
|
rs730880349
|
|
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)
|
rs727503731
|
|
NM_032119.4(ADGRV1):c.11772del (p.Ile3925fs)
|
rs1755899012
|
|
NM_032119.4(ADGRV1):c.14639_14640del (p.Val4879_Ser4880insTer)
|
rs780664266
|
|
NM_032119.4(ADGRV1):c.1626A>T (p.Thr542=)
|
rs1765197280
|
|
NM_032119.4(ADGRV1):c.955_958dup (p.Leu320fs)
|
rs1764920338
|
|
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
|
|
|
NM_206933.2(USH2A):c.850_853delGAGA
|
|
|
NM_206933.2(USH2A):c.[2299del;4714C>T]
|
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)
|
rs397517964
|
|
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
|
|
|
NM_206933.4(USH2A):c.10388-1G>A
|
rs1553261478
|
|
NM_206933.4(USH2A):c.10388-2A>G
|
rs1553261479
|
|
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
|
rs111033379
|
|
NM_206933.4(USH2A):c.10585+1G>A
|
rs2102763351
|
|
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)
|
rs878853413
|
|
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
|
rs1661659605
|
|
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter)
|
rs41314534
|
|
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter)
|
rs755804518
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.11174del (p.Phe3725fs)
|
rs1571657875
|
|
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.11389+1G>A
|
rs368770647
|
|
NM_206933.4(USH2A):c.11411del (p.Pro3804fs)
|
rs397517973
|
|
NM_206933.4(USH2A):c.1143+1G>A
|
rs397517974
|
|
NM_206933.4(USH2A):c.1144-2A>T
|
rs2037686445
|
|
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)
|
rs727505337
|
|
NM_206933.4(USH2A):c.1150del (p.Tyr384fs)
|
|
|
NM_206933.4(USH2A):c.11520T>G (p.Tyr3840Ter)
|
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys)
|
rs1386612395
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.11897_12003del (p.Gln3966fs)
|
rs1659881415
|
|
NM_206933.4(USH2A):c.1214del (p.Asn405fs)
|
rs750228923
|
|
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.1226G>A (p.Trp409Ter)
|
rs2037682180
|
|
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)
|
rs1657996197
|
|
NM_206933.4(USH2A):c.1236G>A (p.Trp412Ter)
|
rs757525434
|
|
NM_206933.4(USH2A):c.12708T>A (p.Cys4236Ter)
|
|
|
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter)
|
rs397517981
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)
|
rs397517983
|
|
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)
|
rs527236137
|
|
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs)
|
rs1415157305
|
|
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
|
rs746447649
|
|
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
|
rs775556188
|
|
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13374del (p.Glu4458fs)
|
rs727503715
|
|
NM_206933.4(USH2A):c.13391G>A (p.Trp4464Ter)
|
|
|
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.13494_13516dup (p.Ser4506fs)
|
|
|
NM_206933.4(USH2A):c.13599del (p.Met4535fs)
|
rs2102664886
|
|
NM_206933.4(USH2A):c.13655G>A (p.Trp4552Ter)
|
rs2102664776
|
|
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)
|
rs397517988
|
|
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)
|
rs747063294
|
|
NM_206933.4(USH2A):c.14134-1G>T
|
|
|
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs)
|
rs1657036615
|
|
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)
|
rs727504867
|
|
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter)
|
rs1571929573
|
|
NM_206933.4(USH2A):c.14649del (p.Ile4883fs)
|
rs1656901821
|
|
NM_206933.4(USH2A):c.14835del (p.Val4946fs)
|
rs2102636076
|
|
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)
|
rs747160949
|
|
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)
|
rs758660532
|
|
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.1614C>A (p.Cys538Ter)
|
rs1195403033
|
|
NM_206933.4(USH2A):c.163C>T (p.Gln55Ter)
|
rs2102788946
|
|
NM_206933.4(USH2A):c.1645-2A>G
|
|
|
NM_206933.4(USH2A):c.1679del (p.Pro560fs)
|
rs773539640
|
|
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054
|
|
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter)
|
rs2037013894
|
|
NM_206933.4(USH2A):c.1829A>C (p.His610Pro)
|
rs1571668556
|
|
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)
|
rs868562952
|
|
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter)
|
rs376674482
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
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.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer)
|
rs2036063892
|
|
NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs)
|
rs587776538
|
|
NM_206933.4(USH2A):c.2534del (p.Leu845fs)
|
rs1572088481
|
|
NM_206933.4(USH2A):c.2809+1G>A
|
rs759433119
|
|
NM_206933.4(USH2A):c.2898del (p.Thr967fs)
|
rs397518008
|
|
NM_206933.4(USH2A):c.2983C>T (p.Gln995Ter)
|
rs527236135
|
|
NM_206933.4(USH2A):c.3129dup (p.Val1044fs)
|
rs786205115
|
|
NM_206933.4(USH2A):c.3158-2A>G
|
rs878853404
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.3381del (p.Thr1128fs)
|
rs2034948574
|
|
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
|
rs483353055
|
|
NM_206933.4(USH2A):c.3435del (p.Val1147fs)
|
rs397518012
|
|
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)
|
rs397518014
|
|
NM_206933.4(USH2A):c.3837del (p.Leu1278_Tyr1279insTer)
|
|
|
NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter)
|
rs2034908088
|
|
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)
|
rs756623509
|
|
NM_206933.4(USH2A):c.3934del (p.Ala1312fs)
|
rs2102464166
|
|
NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs)
|
|
|
NM_206933.4(USH2A):c.4046del (p.Ser1349fs)
|
rs2034899784
|
|
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs)
|
rs397518015
|
|
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.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.4356T>A (p.Cys1452Ter)
|
|
|
NM_206933.4(USH2A):c.4396+2T>G
|
rs2034687381
|
|
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter)
|
rs797045113
|
|
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter)
|
rs869312179
|
|
NM_206933.4(USH2A):c.4603dup (p.His1535fs)
|
rs1572020896
|
|
NM_206933.4(USH2A):c.4758+1G>A
|
|
|
NM_206933.4(USH2A):c.485+3A>T
|
rs1553258031
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter)
|
rs2032147505
|
|
NM_206933.4(USH2A):c.5191_5192del (p.Met1731fs)
|
|
|
NM_206933.4(USH2A):c.5292dup (p.Leu1765fs)
|
rs2102559650
|
|
NM_206933.4(USH2A):c.532dup (p.Thr178fs)
|
rs1571801788
|
|
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter)
|
rs2102554503
|
|
NM_206933.4(USH2A):c.545_546del (p.Lys182fs)
|
rs780779563
|
|
NM_206933.4(USH2A):c.5548del (p.Tyr1850fs)
|
rs2102554196
|
|
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter)
|
rs762837293
|
|
NM_206933.4(USH2A):c.5858-1G>A
|
rs397518023
|
|
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)
|
rs2030619513
|
|
NM_206933.4(USH2A):c.612dup (p.Arg205fs)
|
rs2039614529
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.6223del (p.Trp2075fs)
|
|
|
NM_206933.4(USH2A):c.6292_6296del (p.Tyr2098fs)
|
rs2102524828
|
|
NM_206933.4(USH2A):c.6325+1G>A
|
rs1293202153
|
|
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)
|
rs794727579
|
|
NM_206933.4(USH2A):c.6657+1G>A
|
rs1571876788
|
|
NM_206933.4(USH2A):c.675_678del (p.Phe225fs)
|
rs2102708663
|
|
NM_206933.4(USH2A):c.6845T>G (p.Leu2282Ter)
|
rs2102458475
|
|
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs)
|
rs1667472317
|
|
NM_206933.4(USH2A):c.6905del (p.His2302fs)
|
rs2102458388
|
|
NM_206933.4(USH2A):c.7027del (p.Arg2343fs)
|
rs1667316878
|
|
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
|
|
|
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter)
|
rs376983577
|
|
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)
|
rs397518029
|
|
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter)
|
rs2102469649
|
|
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)
|
rs1558151555
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)
|
rs886041502
|
|
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter)
|
rs1301139848
|
|
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)
|
rs1553273330
|
|
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs)
|
rs768367348
|
|
NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter)
|
|
|
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.828C>G (p.Tyr276Ter)
|
rs1553250952
|
|
NM_206933.4(USH2A):c.8341dup (p.Thr2781fs)
|
rs2102451863
|
|
NM_206933.4(USH2A):c.852_853del
|
rs1188025733
|
|
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter)
|
rs2102450764
|
|
NM_206933.4(USH2A):c.8714dup (p.His2905fs)
|
rs2102440764
|
|
NM_206933.4(USH2A):c.8890dup (p.Trp2964fs)
|
rs786205116
|
|
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)
|
rs1269642027
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)
|
rs779572631
|
|
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)
|
rs536593247
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)
|
rs73090721
|
|
NM_206933.4(USH2A):c.9473del (p.Lys3158fs)
|
rs2102796411
|
|
NM_206933.4(USH2A):c.9538del (p.Cys3180fs)
|
rs36108227
|
|
NM_206933.4(USH2A):c.9685del (p.Glu3229fs)
|
rs878853233
|
|
NM_206933.4(USH2A):c.9699del (p.His3234fs)
|
|
|
NM_206933.4(USH2A):c.9827C>A (p.Ser3276Ter)
|
rs863224941
|
|
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.993_994del (p.Arg331fs)
|
rs1571703801
|
|
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs)
|
rs1571703770
|
|