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.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.4397-1G>A
|
rs199982344
|
0.00009
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
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.14219C>A (p.Ala4740Asp)
|
rs539192853
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
0.00006
|
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.8682-9A>G
|
rs372347027
|
0.00004
|
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.15297+1G>C
|
rs767630412
|
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.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
NM_206933.4(USH2A):c.10820A>C (p.His3607Pro)
|
rs750321557
|
0.00002
|
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)
|
rs759898765
|
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.15520-1G>A
|
rs767265734
|
0.00002
|
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)
|
rs201529124
|
0.00002
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
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.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_206933.4(USH2A):c.11155C>T (p.Arg3719Cys)
|
rs758951363
|
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.12448A>G (p.Thr4150Ala)
|
rs1172628170
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys)
|
rs1268140508
|
0.00001
|
NM_206933.4(USH2A):c.14294T>C (p.Val4765Ala)
|
rs763127023
|
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.1541T>C (p.Ile514Thr)
|
rs768813865
|
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.2186G>A (p.Cys729Tyr)
|
rs780709977
|
0.00001
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00001
|
NM_206933.4(USH2A):c.232T>G (p.Phe78Val)
|
rs775094277
|
0.00001
|
NM_206933.4(USH2A):c.3316+2T>A
|
rs753423216
|
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.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.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.7300+1G>C
|
rs1343780391
|
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.8845+2T>G
|
rs1441350225
|
0.00001
|
NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr)
|
rs140260219
|
0.00001
|
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)
|
rs111033263
|
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.(?_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.(?_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
|
|
|
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs)
|
rs1064797133
|
|
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
|
rs397517963
|
|
NM_206933.4(USH2A):c.1036A>G (p.Asn346Asp)
|
rs369522997
|
|
NM_206933.4(USH2A):c.1037A>G (p.Asn346Ser)
|
|
|
NM_206933.4(USH2A):c.10387+1G>A
|
|
|
NM_206933.4(USH2A):c.10437G>T (p.Trp3479Cys)
|
|
|
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)
|
rs1241034250
|
|
NM_206933.4(USH2A):c.10571C>A (p.Pro3524His)
|
rs1064793288
|
|
NM_206933.4(USH2A):c.10585+1G>A
|
rs2102763351
|
|
NM_206933.4(USH2A):c.10709G>T (p.Cys3570Phe)
|
|
|
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.10939+2T>C
|
rs1661573417
|
|
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly)
|
rs766505885
|
|
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.11387C>T (p.Pro3796Leu)
|
|
|
NM_206933.4(USH2A):c.11389+2del
|
rs2102741149
|
|
NM_206933.4(USH2A):c.11390-1G>A
|
rs2102727580
|
|
NM_206933.4(USH2A):c.11549-4_11549del
|
rs2102725799
|
|
NM_206933.4(USH2A):c.11683G>A (p.Gly3895Arg)
|
|
|
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys)
|
rs1386612395
|
|
NM_206933.4(USH2A):c.11712-2A>C
|
rs753505333
|
|
NM_206933.4(USH2A):c.1173T>A (p.Ser391Arg)
|
|
|
NM_206933.4(USH2A):c.12066+1G>A
|
rs2102713275
|
|
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys)
|
|
|
NM_206933.4(USH2A):c.12269C>T (p.Pro4090Leu)
|
|
|
NM_206933.4(USH2A):c.12383A>G (p.Tyr4128Cys)
|
rs2102667066
|
|
NM_206933.4(USH2A):c.12395T>A (p.Leu4132Gln)
|
|
|
NM_206933.4(USH2A):c.12415G>A (p.Gly4139Ser)
|
|
|
NM_206933.4(USH2A):c.12416G>T (p.Gly4139Val)
|
rs1366681759
|
|
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.12958G>A (p.Asp4320Asn)
|
rs140202956
|
|
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.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.13202G>A (p.Gly4401Asp)
|
|
|
NM_206933.4(USH2A):c.13274C>G (p.Thr4425Arg)
|
rs201238640
|
|
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.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.13491_13499dup (p.Thr4498_Thr4500dup)
|
rs1349222819
|
|
NM_206933.4(USH2A):c.13546G>T (p.Gly4516Trp)
|
|
|
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)
|
rs746442849
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly)
|
rs80338904
|
|
NM_206933.4(USH2A):c.14222C>T (p.Pro4741Leu)
|
rs1657042446
|
|
NM_206933.4(USH2A):c.14286C>A (p.Asn4762Lys)
|
rs750368946
|
|
NM_206933.4(USH2A):c.14288G>T (p.Gly4763Val)
|
|
|
NM_206933.4(USH2A):c.14303A>G (p.Tyr4768Cys)
|
rs1657029417
|
|
NM_206933.4(USH2A):c.14343+1G>A
|
rs2102644733
|
|
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)
|
|
|
NM_206933.4(USH2A):c.14569G>A (p.Gly4857Ser)
|
|
|
NM_206933.4(USH2A):c.14582+1G>C
|
rs1553250150
|
|
NM_206933.4(USH2A):c.14583-1G>T
|
|
|
NM_206933.4(USH2A):c.14791+4A>G
|
rs1408904076
|
|
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs)
|
rs1656646221
|
|
NM_206933.4(USH2A):c.14968+1G>C
|
|
|
NM_206933.4(USH2A):c.14968+2T>G
|
rs1656640356
|
|
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)
|
rs1237333884
|
|
NM_206933.4(USH2A):c.15053-1G>A
|
|
|
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.15353del (p.Asn5118fs)
|
rs1553248224
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
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.1571C>T (p.Ala524Val)
|
rs772624410
|
|
NM_206933.4(USH2A):c.1655G>C (p.Cys552Ser)
|
|
|
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg)
|
rs1553327470
|
|
NM_206933.4(USH2A):c.1730G>A (p.Cys577Tyr)
|
|
|
NM_206933.4(USH2A):c.1751G>A (p.Cys584Tyr)
|
|
|
NM_206933.4(USH2A):c.1822T>C (p.Cys608Arg)
|
|
|
NM_206933.4(USH2A):c.1971+1G>T
|
rs2036950570
|
|
NM_206933.4(USH2A):c.1979G>A (p.Gly660Glu)
|
|
|
NM_206933.4(USH2A):c.1991G>T (p.Cys664Phe)
|
|
|
NM_206933.4(USH2A):c.2072G>C (p.Cys691Ser)
|
|
|
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe)
|
rs1352007983
|
|
NM_206933.4(USH2A):c.2167+1G>A
|
rs2102551610
|
|
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr)
|
rs751035557
|
|
NM_206933.4(USH2A):c.2296T>A (p.Cys766Ser)
|
|
|
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.2915G>T (p.Cys972Phe)
|
|
|
NM_206933.4(USH2A):c.3157+1G>A
|
|
|
NM_206933.4(USH2A):c.3158-1G>A
|
rs1231186035
|
|
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)
|
rs1064797138
|
|
NM_206933.4(USH2A):c.3406A>G (p.Ser1136Gly)
|
rs2034947671
|
|
NM_206933.4(USH2A):c.3461del (p.Thr1153_Leu1154insTer)
|
|
|
NM_206933.4(USH2A):c.3507G>C (p.Trp1169Cys)
|
|
|
NM_206933.4(USH2A):c.3746C>T (p.Pro1249Leu)
|
|
|
NM_206933.4(USH2A):c.3811+1G>T
|
|
|
NM_206933.4(USH2A):c.3959C>A (p.Pro1320His)
|
rs771924569
|
|
NM_206933.4(USH2A):c.4081+1G>A
|
rs2102463697
|
|
NM_206933.4(USH2A):c.4081+1_4081+9del
|
rs2102463667
|
|
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
|
rs2034852728
|
|
NM_206933.4(USH2A):c.4144T>G (p.Trp1382Gly)
|
|
|
NM_206933.4(USH2A):c.4189T>A (p.Tyr1397Asn)
|
|
|
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His)
|
rs2102460239
|
|
NM_206933.4(USH2A):c.4252-1G>A
|
|
|
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)
|
rs1230923403
|
|
NM_206933.4(USH2A):c.4397-1del
|
|
|
NM_206933.4(USH2A):c.4416del (p.Pro1473fs)
|
|
|
NM_206933.4(USH2A):c.4429G>T (p.Gly1477Ter)
|
rs786205452
|
|
NM_206933.4(USH2A):c.4481A>T (p.Asn1494Ile)
|
rs2034357761
|
|
NM_206933.4(USH2A):c.4577G>T (p.Gly1526Val)
|
|
|
NM_206933.4(USH2A):c.4669_4672del (p.Ile1557fs)
|
rs747891004
|
|
NM_206933.4(USH2A):c.4823A>C (p.His1608Pro)
|
rs2032221370
|
|
NM_206933.4(USH2A):c.4824T>A (p.His1608Gln)
|
rs2102565260
|
|
NM_206933.4(USH2A):c.485_485+2del
|
|
|
NM_206933.4(USH2A):c.486-1_625del
|
rs1571801564
|
|
NM_206933.4(USH2A):c.486-4_486-2del
|
|
|
NM_206933.4(USH2A):c.4886-1G>A
|
rs1553300340
|
|
NM_206933.4(USH2A):c.4886-33_4894dup
|
|
|
NM_206933.4(USH2A):c.490G>T (p.Val164Phe)
|
rs527236123
|
|
NM_206933.4(USH2A):c.4987+1G>A
|
rs768117100
|
|
NM_206933.4(USH2A):c.4988-2A>G
|
rs143521854
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
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.5298+1G>T
|
|
|
NM_206933.4(USH2A):c.5399G>T (p.Trp1800Leu)
|
|
|
NM_206933.4(USH2A):c.5447T>A (p.Val1816Glu)
|
rs777011507
|
|
NM_206933.4(USH2A):c.5498T>A (p.Val1833Glu)
|
rs2102554268
|
|
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.5582G>T (p.Gly1861Val)
|
|
|
NM_206933.4(USH2A):c.5603_5613del (p.Phe1868fs)
|
|
|
NM_206933.4(USH2A):c.5614delinsTTAAGTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.5777-2A>C
|
rs1064797136
|
|
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)
|
rs397518021
|
|
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)
|
rs747652397
|
|
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
|
|
|
NM_206933.4(USH2A):c.6163+1G>A
|
rs2030617696
|
|
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.6383G>C (p.Cys2128Ser)
|
rs2102483271
|
|
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.652-2A>G
|
rs2038569690
|
|
NM_206933.4(USH2A):c.6653T>C (p.Leu2218Pro)
|
|
|
NM_206933.4(USH2A):c.6721C>A (p.Pro2241Thr)
|
|
|
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser)
|
rs111033412
|
|
NM_206933.4(USH2A):c.6805G>C (p.Gly2269Arg)
|
rs1668037260
|
|
NM_206933.4(USH2A):c.6806-2A>G
|
rs765217736
|
|
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.6992G>A (p.Gly2331Glu)
|
|
|
NM_206933.4(USH2A):c.7120+1G>A
|
rs1667311758
|
|
NM_206933.4(USH2A):c.7121-1G>T
|
rs2102499826
|
|
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.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.769G>A (p.Gly257Arg)
|
|
|
NM_206933.4(USH2A):c.770G>T (p.Gly257Val)
|
|
|
NM_206933.4(USH2A):c.781_784+1375del
|
|
|
NM_206933.4(USH2A):c.784+2T>C
|
rs2038566039
|
|
NM_206933.4(USH2A):c.785-1G>A
|
rs2037762589
|
|
NM_206933.4(USH2A):c.785-2A>C
|
|
|
NM_206933.4(USH2A):c.8195_8199dup (p.Val2734Ter)
|
|
|
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe)
|
rs2037760521
|
|
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.849-2A>G
|
rs2102656326
|
|
NM_206933.4(USH2A):c.8558+1G>T
|
rs770383273
|
|
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs)
|
rs1553272035
|
|
NM_206933.4(USH2A):c.8655_8681+1681del
|
|
|
NM_206933.4(USH2A):c.8682-2A>C
|
rs1553271002
|
|
NM_206933.4(USH2A):c.8846-1G>T
|
rs771051185
|
|
NM_206933.4(USH2A):c.8846-2A>T
|
rs1553268594
|
|
NM_206933.4(USH2A):c.9048C>A (p.Cys3016Ter)
|
rs1057519208
|
|
NM_206933.4(USH2A):c.9055+1G>A
|
rs1553268562
|
|
NM_206933.4(USH2A):c.9389G>T (p.Trp3130Leu)
|
|
|
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.9800G>T (p.Cys3267Phe)
|
rs1662225276
|
|
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.993_994del (p.Arg331fs)
|
rs1571703801
|
|
NM_206933.4(USH2A):c.9958+1G>C
|
|
|
NM_206933.4(USH2A):c.9958+2T>C
|
rs2102778466
|
|