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.1673G>A (p.Trp558Ter)
|
rs201823777
|
0.00012
|
NM_001142800.2(EYS):c.5928-2A>G
|
rs181169439
|
0.00008
|
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
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.9405T>A (p.Tyr3135Ter)
|
rs137853190
|
0.00006
|
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly)
|
rs778030177
|
0.00005
|
NM_001142800.2(EYS):c.6571+5G>A
|
rs991580368
|
0.00005
|
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)
|
rs184722374
|
0.00005
|
NM_001142800.2(EYS):c.4451G>A (p.Trp1484Ter)
|
rs1239854361
|
0.00004
|
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu)
|
rs527236068
|
0.00004
|
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)
|
rs398123575
|
0.00004
|
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro)
|
rs1311193836
|
0.00004
|
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter)
|
rs928803207
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_001142800.2(EYS):c.7228+1G>A
|
rs758899480
|
0.00003
|
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)
|
rs779983752
|
0.00003
|
NM_001142800.2(EYS):c.8236G>T (p.Asp2746Tyr)
|
rs1349879153
|
0.00003
|
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)
|
rs763028732
|
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.2259+1G>A
|
rs752736741
|
0.00002
|
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
|
rs74419361
|
0.00002
|
NM_001142800.2(EYS):c.32dup (p.Met12fs)
|
rs779372264
|
0.00002
|
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)
|
rs919157306
|
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.1308C>A (p.Cys436Ter)
|
rs1471994744
|
0.00001
|
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)
|
rs371032798
|
0.00001
|
NM_001142800.2(EYS):c.2811C>A (p.Cys937Ter)
|
rs1466666397
|
0.00001
|
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)
|
rs878853349
|
0.00001
|
NM_001142800.2(EYS):c.2889T>A (p.Cys963Ter)
|
rs989589885
|
0.00001
|
NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter)
|
rs1389794536
|
0.00001
|
NM_001142800.2(EYS):c.3164+1G>A
|
rs1029564423
|
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.490C>T (p.Arg164Ter)
|
rs794727631
|
0.00001
|
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter)
|
rs909730457
|
0.00001
|
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter)
|
rs137853189
|
0.00001
|
NM_001142800.2(EYS):c.6191+1G>A
|
rs1048032321
|
0.00001
|
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)
|
rs797045089
|
0.00001
|
NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr)
|
rs1562190751
|
0.00001
|
NM_001142800.2(EYS):c.6571+1G>A
|
rs1193854376
|
0.00001
|
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)
|
rs1060499783
|
0.00001
|
NM_001142800.2(EYS):c.7654del (p.Tyr2551_Val2552insTer)
|
rs1064796020
|
0.00001
|
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter)
|
rs527236066
|
0.00001
|
NM_001142800.2(EYS):c.7943del (p.Thr2648fs)
|
rs1477705832
|
0.00001
|
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)
|
rs527236076
|
0.00001
|
NM_001142800.2(EYS):c.8168del (p.Gln2723fs)
|
rs1168101857
|
0.00001
|
NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter)
|
rs1326635278
|
0.00001
|
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)
|
rs373203896
|
0.00001
|
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn)
|
rs1211856182
|
0.00001
|
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr)
|
rs948998853
|
0.00001
|
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro)
|
rs569561277
|
0.00001
|
GRCh38/hg38 6q12(chr6:64902016-64946012)x1
|
|
|
GRCh38/hg38 6q12(chr6:64997485-65057825)x0
|
|
|
NM_001142800.1(EYS):c.(2023+1_2024-1)_(3443+1_3444-1)del
|
|
|
NM_001142800.1(EYS):c.(2137+1_2138-1)_(2259+1_2260-1)dup
|
|
|
NM_001142800.1(EYS):c.(3243+1_3244-1)_(3443+1_3444-1)dup
|
|
|
NM_001142800.1(EYS):c.(6424+1_6425-1)_(6571+1_6572-1)del
|
|
|
NM_001142800.1(EYS):c.(748+1_749-1)_(1299+1_1300-1)del
|
|
|
NM_001142800.1(EYS):c.1767-24596_2023+238135del
|
|
|
NM_001142800.1(EYS):c.2260-51191_2992+45990del
|
|
|
NM_001142800.1(EYS):c.[3906C>A;9405T>A]
|
|
|
NM_001142800.2(EYS):c.103C>T (p.Gln35Ter)
|
rs749410700
|
|
NM_001142800.2(EYS):c.1161del (p.Lys387fs)
|
rs1562154478
|
|
NM_001142800.2(EYS):c.1211del (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1260del (p.Asn421fs)
|
|
|
NM_001142800.2(EYS):c.1299+5_1299+8del
|
rs1562140604
|
|
NM_001142800.2(EYS):c.1328dup (p.Asn443fs)
|
rs1582176424
|
|
NM_001142800.2(EYS):c.1499dup (p.Tyr500Ter)
|
rs1562109990
|
|
NM_001142800.2(EYS):c.1650T>G (p.Tyr550Ter)
|
rs1769936722
|
|
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter)
|
rs527236072
|
|
NM_001142800.2(EYS):c.1961dup (p.Asn654fs)
|
rs749103801
|
|
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter)
|
rs372354156
|
|
NM_001142800.2(EYS):c.2055_2056del (p.Ala686fs)
|
rs1583442540
|
|
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)
|
rs794727120
|
|
NM_001142800.2(EYS):c.2280_2283del (p.Ser761fs)
|
|
|
NM_001142800.2(EYS):c.2308C>T (p.Gln770Ter)
|
rs992863438
|
|
NM_001142800.2(EYS):c.232del (p.Cys78fs)
|
rs1468020897
|
|
NM_001142800.2(EYS):c.2461G>T (p.Gly821Ter)
|
rs2150076887
|
|
NM_001142800.2(EYS):c.2486del (p.Ile829fs)
|
rs2150076869
|
|
NM_001142800.2(EYS):c.2641+1G>A
|
rs1768029728
|
|
NM_001142800.2(EYS):c.2710_2726del (p.Asp904fs)
|
rs878853253
|
|
NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter)
|
rs1391928253
|
|
NM_001142800.2(EYS):c.2820_2824del (p.Gly941fs)
|
rs1583277585
|
|
NM_001142800.2(EYS):c.2847-1G>T
|
|
|
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter)
|
rs1554214453
|
|
NM_001142800.2(EYS):c.2981del (p.Pro994fs)
|
rs1583260302
|
|
NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter)
|
rs1764939836
|
|
NM_001142800.2(EYS):c.3443+1G>A
|
rs373441420
|
|
NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter)
|
rs2149856749
|
|
NM_001142800.2(EYS):c.3573G>A (p.Trp1191Ter)
|
rs1239806410
|
|
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter)
|
rs1291867456
|
|
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs)
|
rs1582376398
|
|
NM_001142800.2(EYS):c.4073del (p.Pro1358fs)
|
rs2149832474
|
|
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)
|
rs761238771
|
|
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)
|
rs750840208
|
|
NM_001142800.2(EYS):c.4523T>A (p.Leu1508Ter)
|
rs2149832043
|
|
NM_001142800.2(EYS):c.4557del (p.Ala1520fs)
|
rs768092887
|
|
NM_001142800.2(EYS):c.4610_4611del (p.Arg1537fs)
|
rs886042613
|
|
NM_001142800.2(EYS):c.4613_4616del (p.Leu1538fs)
|
rs1582929649
|
|
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs)
|
rs886044304
|
|
NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter)
|
rs909730457
|
|
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)
|
rs527236065
|
|
NM_001142800.2(EYS):c.4977_4978del (p.Cys1660fs)
|
rs2149831647
|
|
NM_001142800.2(EYS):c.514C>T (p.Gln172Ter)
|
rs2127271155
|
|
NM_001142800.2(EYS):c.5167_5168del (p.Leu1723fs)
|
rs1562079314
|
|
NM_001142800.2(EYS):c.5182del (p.Ser1728fs)
|
rs1562079278
|
|
NM_001142800.2(EYS):c.5243T>A (p.Leu1748Ter)
|
rs1582928662
|
|
NM_001142800.2(EYS):c.5283T>A (p.Tyr1761Ter)
|
rs1158231145
|
|
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer)
|
rs1554183440
|
|
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter)
|
rs983691310
|
|
NM_001142800.2(EYS):c.5666del (p.Tyr1889fs)
|
|
|
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs)
|
rs1455826633
|
|
NM_001142800.2(EYS):c.5834del (p.Lys1945fs)
|
rs774455587
|
|
NM_001142800.2(EYS):c.5928del
|
|
|
NM_001142800.2(EYS):c.5988C>A (p.Cys1996Ter)
|
|
|
NM_001142800.2(EYS):c.607C>T (p.Gln203Ter)
|
rs1766182274
|
|
NM_001142800.2(EYS):c.6131_6134del (p.Asn2044fs)
|
rs2150375968
|
|
NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter)
|
rs1562263385
|
|
NM_001142800.2(EYS):c.6794del (p.Pro2265fs)
|
rs758109813
|
|
NM_001142800.2(EYS):c.6799_6800del (p.Gln2267fs)
|
|
|
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs)
|
rs2149802267
|
|
NM_001142800.2(EYS):c.7327G>T (p.Glu2443Ter)
|
|
|
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter)
|
rs1562220891
|
|
NM_001142800.2(EYS):c.7332_7333del (p.Phe2444fs)
|
|
|
NM_001142800.2(EYS):c.7376dup (p.Asn2459fs)
|
|
|
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs)
|
rs1770904723
|
|
NM_001142800.2(EYS):c.7572G>A (p.Trp2524Ter)
|
rs902462590
|
|
NM_001142800.2(EYS):c.7723+1G>A
|
rs1770412895
|
|
NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs)
|
rs1431427428
|
|
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)
|
rs751629543
|
|
NM_001142800.2(EYS):c.8150del (p.Lys2717fs)
|
rs1251637752
|
|
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)
|
rs764229134
|
|
NM_001142800.2(EYS):c.8242_8243del (p.Leu2748fs)
|
|
|
NM_001142800.2(EYS):c.8243dup (p.Leu2748fs)
|
rs1240944758
|
|
NM_001142800.2(EYS):c.8392del (p.Asp2798fs)
|
|
|
NM_001142800.2(EYS):c.8408dup (p.Asn2803fs)
|
rs398123576
|
|
NM_001142800.2(EYS):c.8411_8412insTT (p.Val2804_Thr2805insTer)
|
|
|
NM_001142800.2(EYS):c.8413dup (p.Thr2805fs)
|
|
|
NM_001142800.2(EYS):c.8455del (p.Thr2819fs)
|
|
|
NM_001142800.2(EYS):c.8590G>T (p.Gly2864Ter)
|
rs1582140331
|
|
NM_001142800.2(EYS):c.8598del (p.Gly2867fs)
|
rs1050742628
|
|
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)
|
rs528919874
|
|
NM_001142800.2(EYS):c.8750T>A (p.Leu2917Ter)
|
rs764362221
|
|
NM_001142800.2(EYS):c.875_890delinsTTTCT (p.Glu292fs)
|
rs1582249186
|
|
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs)
|
rs1554163919
|
|
NM_001142800.2(EYS):c.8804dup (p.Tyr2935Ter)
|
|
|
NM_001142800.2(EYS):c.8816G>C (p.Cys2939Ser)
|
rs1582139965
|
|
NM_001142800.2(EYS):c.8830del (p.Val2944fs)
|
rs776526721
|
|
NM_001142800.2(EYS):c.9036del (p.Leu3013fs)
|
rs1225304963
|
|
NM_001142800.2(EYS):c.9166_9167delinsCCTCCC (p.Ile3056fs)
|
|
|
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)
|
rs886044149
|
|
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs)
|
rs869312188
|
|
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.9337_9350del (p.Lys3113fs)
|
|
|
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs)
|
rs771640639
|
|
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs)
|
rs1166245419
|
|
NM_001142800.2(EYS):c.9383_9387del (p.Lys3128fs)
|
rs1409801782
|
|
NM_001142800.2(EYS):c.942del (p.Ala315fs)
|
|
|
NM_001142800.2(EYS):c.984del (p.Asn328fs)
|
rs1766679809
|
|