NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser)
|
rs624851
|
0.77065
|
NM_001142800.2(EYS):c.1300-3C>T
|
rs1936439
|
0.67522
|
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro)
|
rs9294631
|
0.67363
|
NM_001142800.2(EYS):c.1146T>C (p.Asn382=)
|
rs974110
|
0.52503
|
NM_001142800.2(EYS):c.1809C>T (p.Val603=)
|
rs9345601
|
0.50550
|
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser)
|
rs9342464
|
0.50535
|
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln)
|
rs4710457
|
0.35152
|
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile)
|
rs9353806
|
0.27343
|
NM_001142800.2(EYS):c.2024-14_2024-13insT
|
rs142590049
|
0.21040
|
NM_001142800.2(EYS):c.2024-14C>T
|
rs45628235
|
0.20204
|
NM_001142800.2(EYS):c.3444-5C>T
|
rs9445051
|
0.19475
|
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg)
|
rs61753610
|
0.12981
|
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr)
|
rs62415828
|
0.09865
|
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr)
|
rs75831552
|
0.01062
|
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.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)
|
rs200935518
|
0.00083
|
NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe)
|
rs190009374
|
0.00075
|
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.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_001142800.2(EYS):c.3568+5T>C
|
rs539477235
|
0.00034
|
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)
|
rs201819948
|
0.00023
|
NM_001142800.2(EYS):c.5038A>G (p.Asn1680Asp)
|
rs540546920
|
0.00013
|
NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr)
|
rs138255012
|
0.00011
|
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)
|
rs752683070
|
0.00007
|
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln)
|
rs749038401
|
0.00005
|
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)
|
rs184722374
|
0.00005
|
NM_001142800.2(EYS):c.904C>T (p.Leu302Phe)
|
rs202064483
|
0.00005
|
NM_001142800.2(EYS):c.3164+7A>T
|
rs963551759
|
0.00004
|
NM_001142800.2(EYS):c.3226T>C (p.Cys1076Arg)
|
rs780935714
|
0.00004
|
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro)
|
rs1311193836
|
0.00004
|
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu)
|
rs766153322
|
0.00003
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
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.7810C>T (p.Arg2604Cys)
|
rs1015857165
|
0.00003
|
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)
|
rs779983752
|
0.00003
|
NM_001142800.2(EYS):c.1766+1G>T
|
rs776204925
|
0.00002
|
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
|
rs74419361
|
0.00002
|
NM_001142800.2(EYS):c.1056+1G>A
|
rs1195522061
|
0.00001
|
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu)
|
rs548565748
|
0.00001
|
NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp)
|
rs762212630
|
0.00001
|
NM_001142800.2(EYS):c.3443G>A (p.Arg1148Lys)
|
rs1334016191
|
0.00001
|
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)
|
rs930421180
|
0.00001
|
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro)
|
rs1278246029
|
0.00001
|
NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp)
|
rs886061672
|
0.00001
|
NM_001142800.2(EYS):c.7775G>A (p.Gly2592Glu)
|
rs1471859071
|
0.00001
|
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)
|
rs1250317776
|
0.00001
|
NM_001142800.2(EYS):c.939T>G (p.Ser313Arg)
|
rs774342993
|
0.00001
|
NC_000006.11:g.(64574252_64694275)_(64791896_64940484)dup
|
|
|
NC_000006.11:g.(64709077_64776230)_(64791896_64940484)del
|
|
|
NC_000006.11:g.(64776385_64791748)_(64791896_64940484)del
|
|
|
NC_000006.11:g.(65336139_65523270)_(65707597_65767506)del
|
|
|
NC_000006.11:g.(65596736_65612005)_(65655808_65707474)del
|
|
|
NC_000006.11:g.(65612394_65622376)_(65767621_66005755)del
|
|
|
NC_000006.11:g.(65707597_65767506)_(65767621_66005755)del
|
|
|
NC_000006.11:g.(65707597_65767506)_(65767621_66005755)dup
|
|
|
NC_000006.11:g.(66063511_66094278)_(66205887_66349670)dup
|
|
|
NC_000006.11:g.(66094394_66112370)_(66115261_66200486)del
|
|
|
NC_000006.11:g.(66115261_66200486)_(66200601_66204555)dup
|
|
|
NC_000006.11:g.(66115261_66200486)_(66205887_66349670)del
|
|
|
NM_001142800.2(EYS):c.1418G>T (p.Gly473Val)
|
rs540611114
|
|
NM_001142800.2(EYS):c.2275_2276del (p.Cys759fs)
|
rs758506938
|
|
NM_001142800.2(EYS):c.2308C>T (p.Gln770Ter)
|
rs992863438
|
|
NM_001142800.2(EYS):c.2803G>A (p.Glu935Lys)
|
rs1403474828
|
|
NM_001142800.2(EYS):c.3131A>G (p.Asn1044Ser)
|
|
|
NM_001142800.2(EYS):c.400C>T (p.His134Tyr)
|
|
|
NM_001142800.2(EYS):c.4606C>G (p.Gln1536Glu)
|
rs557152369
|
|
NM_001142800.2(EYS):c.492_499del (p.Leu165fs)
|
rs1270977202
|
|
NM_001142800.2(EYS):c.4963T>A (p.Leu1655Met)
|
|
|
NM_001142800.2(EYS):c.525_527del (p.Glu176del)
|
rs780433094
|
|
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs)
|
rs761760327
|
|
NM_001142800.2(EYS):c.5536_5543del (p.Val1846fs)
|
rs2149830976
|
|
NM_001142800.2(EYS):c.5550_5551del (p.Glu1850fs)
|
rs2149830970
|
|
NM_001142800.2(EYS):c.6079-24TC[10]
|
rs35395170
|
|
NM_001142800.2(EYS):c.6794del (p.Pro2265fs)
|
rs758109813
|
|
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)
|
rs915505702
|
|
NM_001142800.2(EYS):c.7624G>T (p.Val2542Phe)
|
rs2149670380
|
|
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp)
|
rs527236064
|
|