NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)
|
rs143994166
|
0.00064
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_001142800.2(EYS):c.3443+1G>T
|
rs373441420
|
0.00022
|
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)
|
rs368798160
|
0.00007
|
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)
|
rs752683070
|
0.00007
|
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter)
|
rs760798455
|
0.00006
|
NM_001142800.2(EYS):c.35T>C (p.Met12Thr)
|
rs755947942
|
0.00006
|
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)
|
rs772888249
|
0.00006
|
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)
|
rs137853190
|
0.00006
|
NM_001142800.2(EYS):c.3878-2A>G
|
rs752930400
|
0.00004
|
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)
|
rs1161453292
|
0.00004
|
NM_001142800.2(EYS):c.967G>T (p.Gly323Ter)
|
rs746499646
|
0.00004
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
NM_001142800.2(EYS):c.3266del (p.Met1089fs)
|
rs1329066633
|
0.00003
|
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr)
|
rs770111708
|
0.00003
|
NM_001142800.2(EYS):c.8309T>C (p.Leu2770Pro)
|
rs1186771860
|
0.00003
|
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)
|
rs763028732
|
0.00003
|
NM_001142800.2(EYS):c.863-2A>C
|
rs761229979
|
0.00003
|
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)
|
rs888739369
|
0.00003
|
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)
|
rs1326370032
|
0.00003
|
NM_001142800.2(EYS):c.-448+5G>A
|
rs1175129177
|
0.00002
|
NM_001142800.2(EYS):c.1766+1G>T
|
rs776204925
|
0.00002
|
NM_001142800.2(EYS):c.32dup (p.Met12fs)
|
rs779372264
|
0.00002
|
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)
|
rs868349465
|
0.00002
|
NM_001142800.2(EYS):c.6192-1G>T
|
rs570020451
|
0.00002
|
NM_001142800.2(EYS):c.78_79dup (p.Gln27fs)
|
rs1352380841
|
0.00002
|
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)
|
rs933169926
|
0.00002
|
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)
|
rs527236067
|
0.00002
|
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)
|
rs748838955
|
0.00002
|
NM_001142800.2(EYS):c.1056+3A>C
|
rs747923761
|
0.00001
|
NM_001142800.2(EYS):c.1057-1G>A
|
rs776564041
|
0.00001
|
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)
|
rs1471994744
|
0.00001
|
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter)
|
rs1177052380
|
0.00001
|
NM_001142800.2(EYS):c.2641+2T>C
|
rs960578029
|
0.00001
|
NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter)
|
rs1245121527
|
0.00001
|
NM_001142800.2(EYS):c.3165-1G>A
|
rs1349089552
|
0.00001
|
NM_001142800.2(EYS):c.3970del (p.Leu1324fs)
|
rs1431710414
|
0.00001
|
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)
|
rs930421180
|
0.00001
|
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter)
|
rs1305702728
|
0.00001
|
NM_001142800.2(EYS):c.5511G>A (p.Trp1837Ter)
|
rs745574120
|
0.00001
|
NM_001142800.2(EYS):c.5644+5G>A
|
rs794727412
|
0.00001
|
NM_001142800.2(EYS):c.6079-3_6079-2del
|
rs1491200209
|
0.00001
|
NM_001142800.2(EYS):c.6191+1G>A
|
rs1048032321
|
0.00001
|
NM_001142800.2(EYS):c.634C>T (p.Gln212Ter)
|
rs371915861
|
0.00001
|
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)
|
rs797045089
|
0.00001
|
NM_001142800.2(EYS):c.6571+1G>A
|
rs1193854376
|
0.00001
|
NM_001142800.2(EYS):c.6623G>A (p.Gly2208Glu)
|
rs1197105310
|
0.00001
|
NM_001142800.2(EYS):c.684C>A (p.Cys228Ter)
|
rs1312069480
|
0.00001
|
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)
|
rs1060499783
|
0.00001
|
NM_001142800.2(EYS):c.7842C>A (p.Cys2614Ter)
|
rs374494800
|
0.00001
|
NM_001142800.2(EYS):c.7970del (p.Asp2657fs)
|
rs1477098845
|
0.00001
|
NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter)
|
rs1299355731
|
0.00001
|
NM_001142800.2(EYS):c.8168del (p.Gln2723fs)
|
rs1168101857
|
0.00001
|
NM_001142800.2(EYS):c.8659G>T (p.Gly2887Ter)
|
rs1768381543
|
0.00001
|
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr)
|
rs948998853
|
0.00001
|
GRCh38/hg38 6q12(chr6:65331371-65405465)x1
|
|
|
NM_001142800.2(EYS):c.-40_3dup (p.Thr2fs)
|
|
|
NM_001142800.2(EYS):c.110C>A (p.Ser37Ter)
|
|
|
NM_001142800.2(EYS):c.1122T>A (p.Cys374Ter)
|
|
|
NM_001142800.2(EYS):c.1123G>T (p.Glu375Ter)
|
|
|
NM_001142800.2(EYS):c.117T>A (p.Tyr39Ter)
|
|
|
NM_001142800.2(EYS):c.1184+1G>T
|
|
|
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1234del (p.Cys412fs)
|
rs1765726534
|
|
NM_001142800.2(EYS):c.1299+5_1299+8del
|
rs1562140604
|
|
NM_001142800.2(EYS):c.1300-3_1300-2inv
|
|
|
NM_001142800.2(EYS):c.1328dup (p.Asn443fs)
|
rs1582176424
|
|
NM_001142800.2(EYS):c.1335T>A (p.Cys445Ter)
|
|
|
NM_001142800.2(EYS):c.1338G>A (p.Trp446Ter)
|
|
|
NM_001142800.2(EYS):c.1356C>G (p.Tyr452Ter)
|
|
|
NM_001142800.2(EYS):c.1436_1437del (p.Tyr479fs)
|
|
|
NM_001142800.2(EYS):c.1460-2A>C
|
|
|
NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter)
|
rs774464019
|
|
NM_001142800.2(EYS):c.1482dup (p.Gly495fs)
|
|
|
NM_001142800.2(EYS):c.1505_1506insGA (p.Phe502fs)
|
|
|
NM_001142800.2(EYS):c.1521C>A (p.Cys507Ter)
|
rs1416709406
|
|
NM_001142800.2(EYS):c.1527del (p.Asp510fs)
|
rs2150319911
|
|
NM_001142800.2(EYS):c.1599+1G>T
|
rs2150319815
|
|
NM_001142800.2(EYS):c.1600-1G>T
|
|
|
NM_001142800.2(EYS):c.1603del (p.Cys535fs)
|
rs2150313808
|
|
NM_001142800.2(EYS):c.160_162delinsAA (p.Tyr54fs)
|
|
|
NM_001142800.2(EYS):c.1637_1640del (p.Asp546fs)
|
rs2150313758
|
|
NM_001142800.2(EYS):c.1711C>T (p.Gln571Ter)
|
|
|
NM_001142800.2(EYS):c.1766+1G>A
|
|
|
NM_001142800.2(EYS):c.1770_1782del (p.Arg589_Cys590insTer)
|
|
|
NM_001142800.2(EYS):c.1809_1812delinsTAA (p.Asn604fs)
|
|
|
NM_001142800.2(EYS):c.1867del (p.Leu623fs)
|
|
|
NM_001142800.2(EYS):c.1961dup (p.Asn654fs)
|
rs749103801
|
|
NM_001142800.2(EYS):c.2011_2012del (p.Pro671fs)
|
|
|
NM_001142800.2(EYS):c.2021_2023+1dup
|
rs2150286198
|
|
NM_001142800.2(EYS):c.2023+1G>A
|
rs980430860
|
|
NM_001142800.2(EYS):c.2023+5G>T
|
rs1287889008
|
|
NM_001142800.2(EYS):c.2041G>T (p.Asp681Tyr)
|
|
|
NM_001142800.2(EYS):c.2068del (p.Cys690fs)
|
|
|
NM_001142800.2(EYS):c.2138-2A>G
|
|
|
NM_001142800.2(EYS):c.2380del (p.Arg794fs)
|
|
|
NM_001142800.2(EYS):c.2381+1G>A
|
rs1769267226
|
|
NM_001142800.2(EYS):c.2381+1G>C
|
|
|
NM_001142800.2(EYS):c.2382-1G>A
|
|
|
NM_001142800.2(EYS):c.251T>G (p.Leu84Ter)
|
|
|
NM_001142800.2(EYS):c.2527G>A (p.Gly843Arg)
|
rs2150076826
|
|
NM_001142800.2(EYS):c.253G>T (p.Gly85Ter)
|
|
|
NM_001142800.2(EYS):c.2579_2580delinsAA (p.Cys860Ter)
|
|
|
NM_001142800.2(EYS):c.2623dup (p.His875fs)
|
|
|
NM_001142800.2(EYS):c.2652dup (p.Lys885Ter)
|
rs1767699695
|
|
NM_001142800.2(EYS):c.2704dup (p.Tyr902fs)
|
|
|
NM_001142800.2(EYS):c.2715_2716del (p.Cys905_Glu906delinsTer)
|
rs2150071769
|
|
NM_001142800.2(EYS):c.2716G>T (p.Glu906Ter)
|
|
|
NM_001142800.2(EYS):c.2739-1G>A
|
rs943468139
|
|
NM_001142800.2(EYS):c.2739-1G>T
|
rs943468139
|
|
NM_001142800.2(EYS):c.2739del
|
|
|
NM_001142800.2(EYS):c.2791_2794delinsTTTTGCAAG (p.Glu931fs)
|
|
|
NM_001142800.2(EYS):c.2847-2A>G
|
|
|
NM_001142800.2(EYS):c.2854dup (p.Cys952fs)
|
rs779877426
|
|
NM_001142800.2(EYS):c.289C>T (p.Gln97Ter)
|
rs1766202141
|
|
NM_001142800.2(EYS):c.2949del (p.Val982_Tyr983insTer)
|
|
|
NM_001142800.2(EYS):c.2992+1G>A
|
|
|
NM_001142800.2(EYS):c.2993-1G>A
|
|
|
NM_001142800.2(EYS):c.2993-2A>G
|
rs2150022860
|
|
NM_001142800.2(EYS):c.3003_3004del (p.Cys1001_Glu1002delinsTer)
|
rs1764940309
|
|
NM_001142800.2(EYS):c.3106G>T (p.Gly1036Ter)
|
|
|
NM_001142800.2(EYS):c.3143C>G (p.Ser1048Ter)
|
|
|
NM_001142800.2(EYS):c.3153del (p.Leu1052fs)
|
rs1764934644
|
|
NM_001142800.2(EYS):c.315_316delinsA (p.Asn105fs)
|
|
|
NM_001142800.2(EYS):c.3178_3179del (p.Leu1059_Ile1060insTer)
|
|
|
NM_001142800.2(EYS):c.3244-1G>C
|
rs2150016293
|
|
NM_001142800.2(EYS):c.3298G>T (p.Gly1100Ter)
|
|
|
NM_001142800.2(EYS):c.3349dup (p.Ser1117fs)
|
|
|
NM_001142800.2(EYS):c.342T>A (p.Cys114Ter)
|
rs1418930514
|
|
NM_001142800.2(EYS):c.3490G>T (p.Glu1164Ter)
|
rs2149856835
|
|
NM_001142800.2(EYS):c.34_35del (p.Met12fs)
|
rs2127271977
|
|
NM_001142800.2(EYS):c.3510T>A (p.Cys1170Ter)
|
|
|
NM_001142800.2(EYS):c.3561C>A (p.Cys1187Ter)
|
rs1767601438
|
|
NM_001142800.2(EYS):c.3567del (p.Gly1190fs)
|
rs1767601116
|
|
NM_001142800.2(EYS):c.3568+1G>A
|
rs1767600988
|
|
NM_001142800.2(EYS):c.3606C>A (p.Cys1202Ter)
|
rs1297699863
|
|
NM_001142800.2(EYS):c.3618_3619del (p.Val1208fs)
|
|
|
NM_001142800.2(EYS):c.3699del (p.Leu1234fs)
|
rs1318739667
|
|
NM_001142800.2(EYS):c.3768_3769dup (p.Ser1257fs)
|
rs2149833352
|
|
NM_001142800.2(EYS):c.3789dup (p.Pro1264fs)
|
|
|
NM_001142800.2(EYS):c.3862dup (p.Tyr1288fs)
|
rs2149833264
|
|
NM_001142800.2(EYS):c.3874C>T (p.Gln1292Ter)
|
|
|
NM_001142800.2(EYS):c.3886C>T (p.Gln1296Ter)
|
|
|
NM_001142800.2(EYS):c.3938T>A (p.Leu1313Ter)
|
rs2149832585
|
|
NM_001142800.2(EYS):c.3951_3952del (p.Pro1318fs)
|
rs1270740001
|
|
NM_001142800.2(EYS):c.4011_4012del (p.His1337fs)
|
rs2149832523
|
|
NM_001142800.2(EYS):c.4026del (p.Ala1343fs)
|
|
|
NM_001142800.2(EYS):c.4152dup (p.Pro1385fs)
|
rs1185686653
|
|
NM_001142800.2(EYS):c.4154_4155del (p.Pro1385fs)
|
rs1766416713
|
|
NM_001142800.2(EYS):c.4306dup (p.Ile1436fs)
|
|
|
NM_001142800.2(EYS):c.4321C>T (p.Gln1441Ter)
|
rs1766410692
|
|
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)
|
rs750840208
|
|
NM_001142800.2(EYS):c.4436C>A (p.Ser1479Ter)
|
|
|
NM_001142800.2(EYS):c.4455_4458del (p.Arg1485fs)
|
|
|
NM_001142800.2(EYS):c.449del (p.Thr150fs)
|
|
|
NM_001142800.2(EYS):c.4523T>G (p.Leu1508Ter)
|
|
|
NM_001142800.2(EYS):c.4532C>G (p.Ser1511Ter)
|
rs2149832027
|
|
NM_001142800.2(EYS):c.4610_4611del (p.Arg1537fs)
|
rs886042613
|
|
NM_001142800.2(EYS):c.4655T>G (p.Leu1552Ter)
|
rs1054515897
|
|
NM_001142800.2(EYS):c.4665_4666del (p.Ala1557fs)
|
|
|
NM_001142800.2(EYS):c.4717C>T (p.Gln1573Ter)
|
|
|
NM_001142800.2(EYS):c.4791T>A (p.Tyr1597Ter)
|
|
|
NM_001142800.2(EYS):c.4901dup (p.Ser1635fs)
|
|
|
NM_001142800.2(EYS):c.492_499del (p.Leu165fs)
|
rs1270977202
|
|
NM_001142800.2(EYS):c.4939G>T (p.Glu1647Ter)
|
|
|
NM_001142800.2(EYS):c.4976T>G (p.Leu1659Ter)
|
|
|
NM_001142800.2(EYS):c.4997del (p.Leu1666fs)
|
|
|
NM_001142800.2(EYS):c.5071G>T (p.Glu1691Ter)
|
|
|
NM_001142800.2(EYS):c.5227del (p.Ser1743fs)
|
|
|
NM_001142800.2(EYS):c.5238del (p.Phe1746fs)
|
|
|
NM_001142800.2(EYS):c.5254del (p.Ile1752fs)
|
|
|
NM_001142800.2(EYS):c.525_527del (p.Glu176del)
|
rs780433094
|
|
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs)
|
rs761760327
|
|
NM_001142800.2(EYS):c.5487dup (p.Glu1830fs)
|
|
|
NM_001142800.2(EYS):c.5530_5534dup (p.Val1846fs)
|
rs1405016852
|
|
NM_001142800.2(EYS):c.5626C>T (p.Gln1876Ter)
|
rs2149830904
|
|
NM_001142800.2(EYS):c.5644+1G>A
|
|
|
NM_001142800.2(EYS):c.5645-1G>A
|
|
|
NM_001142800.2(EYS):c.5677_5681del (p.Tyr1893fs)
|
|
|
NM_001142800.2(EYS):c.5734C>T (p.Gln1912Ter)
|
|
|
NM_001142800.2(EYS):c.5786del (p.Asn1928_Leu1929insTer)
|
rs2150466350
|
|
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs)
|
rs1455826633
|
|
NM_001142800.2(EYS):c.5814del (p.Phe1938fs)
|
|
|
NM_001142800.2(EYS):c.5841del (p.Tyr1949fs)
|
|
|
NM_001142800.2(EYS):c.5928-1G>A
|
|
|
NM_001142800.2(EYS):c.6036_6042del (p.Val2013fs)
|
|
|
NM_001142800.2(EYS):c.6078+1G>A
|
|
|
NM_001142800.2(EYS):c.6138G>A (p.Trp2046Ter)
|
|
|
NM_001142800.2(EYS):c.6191+1del
|
|
|
NM_001142800.2(EYS):c.6192-1G>A
|
|
|
NM_001142800.2(EYS):c.6196del (p.Gln2066fs)
|
|
|
NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs)
|
rs1554220416
|
|
NM_001142800.2(EYS):c.6270G>A (p.Trp2090Ter)
|
|
|
NM_001142800.2(EYS):c.6286del (p.Ser2096fs)
|
rs2150338012
|
|
NM_001142800.2(EYS):c.6302_6303del (p.Ser2101fs)
|
|
|
NM_001142800.2(EYS):c.6313C>T (p.Gln2105Ter)
|
rs1188834464
|
|
NM_001142800.2(EYS):c.637_643del (p.Glu213fs)
|
rs1285201633
|
|
NM_001142800.2(EYS):c.6415T>C (p.Cys2139Arg)
|
rs1378663182
|
|
NM_001142800.2(EYS):c.6485dup (p.Phe2163fs)
|
|
|
NM_001142800.2(EYS):c.6545del (p.Asn2182fs)
|
rs1346842287
|
|
NM_001142800.2(EYS):c.6595C>T (p.Gln2199Ter)
|
|
|
NM_001142800.2(EYS):c.6725+1G>T
|
|
|
NM_001142800.2(EYS):c.6726-12_6735del
|
|
|
NM_001142800.2(EYS):c.6799C>T (p.Gln2267Ter)
|
|
|
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs)
|
rs2149802267
|
|
NM_001142800.2(EYS):c.6825dup (p.Ala2276fs)
|
|
|
NM_001142800.2(EYS):c.6834+2T>C
|
|
|
NM_001142800.2(EYS):c.6835-2A>T
|
|
|
NM_001142800.2(EYS):c.7017T>A (p.Cys2339Ter)
|
|
|
NM_001142800.2(EYS):c.7115T>A (p.Phe2372Tyr)
|
|
|
NM_001142800.2(EYS):c.7126G>T (p.Glu2376Ter)
|
|
|
NM_001142800.2(EYS):c.7178del (p.Asp2393fs)
|
|
|
NM_001142800.2(EYS):c.7196del (p.Pro2399fs)
|
rs2149709684
|
|
NM_001142800.2(EYS):c.7228_7228+1delinsTA
|
rs1772614934
|
|
NM_001142800.2(EYS):c.7229-1G>A
|
rs1554171033
|
|
NM_001142800.2(EYS):c.7296T>A (p.Tyr2432Ter)
|
|
|
NM_001142800.2(EYS):c.7328A>C (p.Glu2443Ala)
|
|
|
NM_001142800.2(EYS):c.7331T>A (p.Phe2444Tyr)
|
|
|
NM_001142800.2(EYS):c.7372C>T (p.Gln2458Ter)
|
|
|
NM_001142800.2(EYS):c.748+1G>A
|
rs1766169568
|
|
NM_001142800.2(EYS):c.749-1G>A
|
rs368159852
|
|
NM_001142800.2(EYS):c.749-1G>C
|
rs368159852
|
|
NM_001142800.2(EYS):c.749-2A>G
|
rs1766011028
|
|
NM_001142800.2(EYS):c.7495dup (p.Ser2499fs)
|
|
|
NM_001142800.2(EYS):c.7540_7541del (p.Val2514fs)
|
rs2149670871
|
|
NM_001142800.2(EYS):c.7797_7800del (p.His2599fs)
|
rs2149664330
|
|
NM_001142800.2(EYS):c.7921A>T (p.Lys2641Ter)
|
|
|
NM_001142800.2(EYS):c.7943_7944del (p.Thr2648fs)
|
rs1278985995
|
|
NM_001142800.2(EYS):c.803del (p.Gly268fs)
|
rs1766006937
|
|
NM_001142800.2(EYS):c.8071+2del
|
|
|
NM_001142800.2(EYS):c.8072-2A>G
|
|
|
NM_001142800.2(EYS):c.8098A>T (p.Arg2700Ter)
|
|
|
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)
|
rs751629543
|
|
NM_001142800.2(EYS):c.8150dup (p.Thr2718fs)
|
|
|
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)
|
rs764229134
|
|
NM_001142800.2(EYS):c.8243del (p.Leu2748fs)
|
rs1240944758
|
|
NM_001142800.2(EYS):c.8254_8255del (p.Leu2752fs)
|
|
|
NM_001142800.2(EYS):c.830del (p.Ser277fs)
|
|
|
NM_001142800.2(EYS):c.8412_8413insCA (p.Thr2805fs)
|
|
|
NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter)
|
|
|
NM_001142800.2(EYS):c.8543del (p.Ile2848fs)
|
rs2149625125
|
|
NM_001142800.2(EYS):c.8565_8568del (p.Asn2855fs)
|
rs1216993077
|
|
NM_001142800.2(EYS):c.8616_8617del (p.Asp2873fs)
|
rs2149625000
|
|
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)
|
rs528919874
|
|
NM_001142800.2(EYS):c.8697C>A (p.Cys2899Ter)
|
|
|
NM_001142800.2(EYS):c.8734C>T (p.Gln2912Ter)
|
rs1561993938
|
|
NM_001142800.2(EYS):c.8751_8754del (p.Asn2918fs)
|
|
|
NM_001142800.2(EYS):c.8780_8783del (p.Cys2927fs)
|
|
|
NM_001142800.2(EYS):c.8830del (p.Val2944fs)
|
rs776526721
|
|
NM_001142800.2(EYS):c.8858C>A (p.Ser2953Ter)
|
|
|
NM_001142800.2(EYS):c.8892_8896del (p.Tyr2964_Lys2966delinsTer)
|
rs1768367412
|
|
NM_001142800.2(EYS):c.8945_8946delinsATTTCAC (p.Ile2982fs)
|
|
|
NM_001142800.2(EYS):c.8993T>C (p.Met2998Thr)
|
rs768837125
|
|
NM_001142800.2(EYS):c.9010_9019del (p.Glu3004fs)
|
|
|
NM_001142800.2(EYS):c.9013G>T (p.Glu3005Ter)
|
|
|
NM_001142800.2(EYS):c.9067_9085del (p.Asn3023fs)
|
|
|
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs)
|
rs1427770112
|
|
NM_001142800.2(EYS):c.9086_9087del (p.Ser3029fs)
|
|
|
NM_001142800.2(EYS):c.9096_9102del (p.Met3032fs)
|
|
|
NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu)
|
rs772549804
|
|
NM_001142800.2(EYS):c.9159_9160del (p.Gln3053fs)
|
rs1486663077
|
|
NM_001142800.2(EYS):c.9163_9164del (p.Leu3055fs)
|
|
|
NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs)
|
rs1165454778
|
|
NM_001142800.2(EYS):c.9177_9180del (p.Ala3058_Tyr3059insTer)
|
|
|
NM_001142800.2(EYS):c.9234_9249dup (p.Ile3084delinsSerLysLeuTer)
|
rs1768348055
|
|
NM_001142800.2(EYS):c.9258T>A (p.Tyr3086Ter)
|
rs1190932109
|
|
NM_001142800.2(EYS):c.927C>A (p.Cys309Ter)
|
|
|
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)
|
rs770748359
|
|
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)
|
rs769824975
|
|
NM_001142800.2(EYS):c.9301C>T (p.Gln3101Ter)
|
|
|
NM_001142800.2(EYS):c.9302_9303del (p.Gln3101fs)
|
|
|
NM_001142800.2(EYS):c.9324_9326delinsGG (p.Phe3108fs)
|
|
|
NM_001142800.2(EYS):c.9368del (p.Asn3123fs)
|
rs1768339358
|
|
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs)
|
rs1166245419
|
|
NM_001142800.2(EYS):c.9380_9383del (p.Ile3127fs)
|
|
|
NM_001142800.2(EYS):c.9428_9429dup (p.Thr3144fs)
|
rs1270198704
|
|
NM_001142800.2(EYS):c.95G>A (p.Trp32Ter)
|
|
|
NM_001142800.2(EYS):c.988G>T (p.Glu330Ter)
|
|
|