NM_001142800.2(EYS):c.-459C>T
|
rs144371265
|
0.01261
|
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)
|
rs61753611
|
0.00740
|
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg)
|
rs74636274
|
0.00587
|
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=)
|
rs182322608
|
0.00464
|
NM_001142800.2(EYS):c.281C>A (p.Pro94Gln)
|
rs111947397
|
0.00404
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile)
|
rs112464110
|
0.00293
|
NM_001142800.2(EYS):c.2613C>T (p.Asp871=)
|
rs192059823
|
0.00284
|
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp)
|
rs139822086
|
0.00273
|
NM_001142800.2(EYS):c.4264A>T (p.Thr1422Ser)
|
rs200318120
|
0.00269
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val)
|
rs148019592
|
0.00165
|
NM_001142800.2(EYS):c.1145A>T (p.Asn382Ile)
|
rs144935927
|
0.00133
|
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)
|
rs772339340
|
0.00124
|
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)
|
rs188093810
|
0.00124
|
NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu)
|
rs200374024
|
0.00081
|
NM_001142800.2(EYS):c.2109C>T (p.Tyr703=)
|
rs377090818
|
0.00071
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
NM_001142800.2(EYS):c.1459+5C>T
|
rs200387978
|
0.00061
|
NM_001142800.2(EYS):c.7034G>A (p.Arg2345His)
|
rs201304559
|
0.00055
|
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
NM_001142800.2(EYS):c.2598C>T (p.Cys866=)
|
rs183814213
|
0.00040
|
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg)
|
rs374409854
|
0.00036
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=)
|
rs747911999
|
0.00029
|
NM_001142800.2(EYS):c.2027C>T (p.Thr676Met)
|
rs199944222
|
0.00021
|
NM_001142800.2(EYS):c.7751C>G (p.Thr2584Ser)
|
rs557892188
|
0.00019
|
NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr)
|
rs138255012
|
0.00011
|
NM_001142800.2(EYS):c.4559C>G (p.Ala1520Gly)
|
rs751565795
|
0.00011
|
NM_001142800.2(EYS):c.5053T>G (p.Ser1685Ala)
|
rs759642068
|
0.00011
|
NM_001142800.2(EYS):c.7608C>T (p.Ile2536=)
|
rs562496683
|
0.00009
|
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.35T>C (p.Met12Thr)
|
rs755947942
|
0.00006
|
NM_001142800.2(EYS):c.3446G>A (p.Cys1149Tyr)
|
rs1315175190
|
0.00005
|
NM_001142800.2(EYS):c.3878-2A>G
|
rs752930400
|
0.00004
|
NM_001142800.2(EYS):c.2394A>G (p.Thr798=)
|
rs1211173176
|
0.00003
|
NM_001142800.2(EYS):c.2857A>G (p.Asn953Asp)
|
rs1326644818
|
0.00003
|
NM_001142800.2(EYS):c.3164+8T>C
|
rs1385606496
|
0.00003
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_001142800.2(EYS):c.32dup (p.Met12fs)
|
rs779372264
|
0.00002
|
NM_001142800.2(EYS):c.1381T>A (p.Cys461Ser)
|
rs1471424153
|
0.00001
|
NM_001142800.2(EYS):c.2511C>T (p.Cys837=)
|
rs999155902
|
0.00001
|
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)
|
rs878853349
|
0.00001
|
NM_001142800.2(EYS):c.3081C>T (p.Thr1027=)
|
rs1554207086
|
0.00001
|
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)
|
rs930421180
|
0.00001
|
NM_001142800.2(EYS):c.4519A>G (p.Ile1507Val)
|
rs1373400697
|
0.00001
|
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)
|
rs797045089
|
0.00001
|
NM_001142800.2(EYS):c.7356C>A (p.Asn2452Lys)
|
rs566843175
|
0.00001
|
NM_001142800.2(EYS):c.8035T>G (p.Cys2679Gly)
|
rs1064797324
|
0.00001
|
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)
|
rs1250317776
|
0.00001
|
GRCh37/hg19 6q12(chr6:64694276-66115260)x1
|
|
|
GRCh37/hg19 6q12(chr6:65098583-65767620)x1
|
|
|
GRCh37/hg19 6q12(chr6:65300116-65303202)x1
|
|
|
GRCh37/hg19 6q12(chr6:65523271-65767620)x1
|
|
|
NM_001142800.2(EYS):c.1472A>C (p.Glu491Ala)
|
rs759752693
|
|
NM_001142800.2(EYS):c.1478G>A (p.Cys493Tyr)
|
rs1770307692
|
|
NM_001142800.2(EYS):c.1530T>C (p.Asp510=)
|
|
|
NM_001142800.2(EYS):c.1766+2578G>A
|
|
|
NM_001142800.2(EYS):c.1945T>C (p.Ser649Pro)
|
rs1768650310
|
|
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)
|
rs549456693
|
|
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter)
|
rs372354156
|
|
NM_001142800.2(EYS):c.2499T>G (p.Phe833Leu)
|
rs1554217626
|
|
NM_001142800.2(EYS):c.2908T>C (p.Cys970Arg)
|
|
|
NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter)
|
rs1764939836
|
|
NM_001142800.2(EYS):c.3353T>C (p.Ile1118Thr)
|
rs1412311460
|
|
NM_001142800.2(EYS):c.3699del (p.Leu1234fs)
|
rs1318739667
|
|
NM_001142800.2(EYS):c.3885del (p.Lys1295fs)
|
rs1766427552
|
|
NM_001142800.2(EYS):c.3958G>A (p.Glu1320Lys)
|
rs1554183636
|
|
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)
|
rs761238771
|
|
NM_001142800.2(EYS):c.443T>C (p.Phe148Ser)
|
|
|
NM_001142800.2(EYS):c.4760G>A (p.Trp1587Ter)
|
rs2149831862
|
|
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs)
|
rs886044304
|
|
NM_001142800.2(EYS):c.5194C>G (p.His1732Asp)
|
rs1554183468
|
|
NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter)
|
rs1766367970
|
|
NM_001142800.2(EYS):c.5576C>A (p.Pro1859His)
|
|
|
NM_001142800.2(EYS):c.5644+2T>C
|
rs2149830870
|
|
NM_001142800.2(EYS):c.5645-5C>T
|
rs1003975346
|
|
NM_001142800.2(EYS):c.5927+1G>T
|
rs1444115520
|
|
NM_001142800.2(EYS):c.602A>G (p.His201Arg)
|
rs1011260787
|
|
NM_001142800.2(EYS):c.6079-2A>G
|
|
|
NM_001142800.2(EYS):c.6544_6547del (p.Asn2182fs)
|
rs1488052513
|
|
NM_001142800.2(EYS):c.67dup (p.Thr23fs)
|
rs1766217655
|
|
NM_001142800.2(EYS):c.7055+1G>A
|
rs1582079626
|
|
NM_001142800.2(EYS):c.7124G>T (p.Cys2375Phe)
|
rs1554182987
|
|
NM_001142800.2(EYS):c.7228_7228+1delinsTA
|
rs1772614934
|
|
NM_001142800.2(EYS):c.730_733del (p.Cys244fs)
|
rs1766174156
|
|
NM_001142800.2(EYS):c.7568G>T (p.Gly2523Val)
|
|
|