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.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
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.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
NM_001142800.2(EYS):c.35T>C (p.Met12Thr)
|
rs755947942
|
0.00006
|
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln)
|
rs749038401
|
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.2886C>G (p.Phe962Leu)
|
rs766153322
|
0.00003
|
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)
|
rs1015857165
|
0.00003
|
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.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.939T>G (p.Ser313Arg)
|
rs774342993
|
0.00001
|
GRCh37/hg19 6q12(chr6:65518898-65930927)
|
|
|
GRCh37/hg19 6q12(chr6:65564377-65671149)
|
|
|
GRCh37/hg19 6q12(chr6:65807262-66064094)
|
|
|
GRCh37/hg19 6q12(chr6:66302699-66360268)
|
|
|
NC_000006.11:g.(65707597_65767506)_(65767621_66005755)dup
|
|
|
NC_000006.11:g.(66063511_66094278)_(66205887_66349670)dup
|
|
|
NC_000006.11:g.(66115261_66200486)_(66200601_66204555)dup
|
|
|
NM_001142800.2(EYS):c.1418G>T (p.Gly473Val)
|
rs540611114
|
|
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.4963T>A (p.Leu1655Met)
|
|
|
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
|
|