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.7811G>A (p.Arg2604His)
|
rs368798160
|
0.00007
|
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly)
|
rs778030177
|
0.00005
|
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro)
|
rs777735735
|
0.00005
|
NM_001142800.2(EYS):c.3878-2A>G
|
rs752930400
|
0.00004
|
NM_001142800.2(EYS):c.3809T>G (p.Val1270Gly)
|
rs368856942
|
0.00003
|
NM_001142800.2(EYS):c.632G>T (p.Cys211Phe)
|
rs772707303
|
0.00003
|
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)
|
rs1015857165
|
0.00003
|
NM_001142800.2(EYS):c.863-2A>C
|
rs761229979
|
0.00003
|
NM_001142800.2(EYS):c.1766+1G>T
|
rs776204925
|
0.00002
|
NM_001142800.2(EYS):c.6192-1G>T
|
rs570020451
|
0.00002
|
NM_001142800.2(EYS):c.1056+1G>A
|
rs1195522061
|
0.00001
|
NM_001142800.2(EYS):c.1057-1G>A
|
rs776564041
|
0.00001
|
NM_001142800.2(EYS):c.3165-1G>A
|
rs1349089552
|
0.00001
|
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro)
|
rs1278246029
|
0.00001
|
NM_001142800.2(EYS):c.6571+1G>A
|
rs1193854376
|
0.00001
|
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)
|
rs1250317776
|
0.00001
|
NM_001142800.2(EYS):c.862+1G>T
|
rs926930860
|
0.00001
|
NC_000006.11:g.(?_64472344)_(64472536_?)dup
|
|
|
NC_000006.11:g.(?_64574059)_(65655827_?)dup
|
|
|
NC_000006.11:g.(?_64574069)_(65016985_?)dup
|
|
|
NC_000006.11:g.(?_64694266)_(64694506_?)dup
|
|
|
NC_000006.11:g.(?_64694266)_(65149255_?)dup
|
|
|
NC_000006.11:g.(?_64776221)_(64791905_?)dup
|
|
|
NC_000006.11:g.(?_64940465)_(65622656_?)dup
|
|
|
NC_000006.11:g.(?_64940475)_(65098743_?)dup
|
|
|
NC_000006.11:g.(?_64940475)_(65336148_?)dup
|
|
|
NC_000006.11:g.(?_65098573)_(65098743_?)dup
|
|
|
NC_000006.11:g.(?_65098573)_(65149255_?)dup
|
|
|
NC_000006.11:g.(?_65098583)_(65149245_?)dup
|
|
|
NC_000006.11:g.(?_65327291)_(65336158_?)dup
|
|
|
NC_000006.11:g.(?_65336004)_(65336148_?)dup
|
|
|
NC_000006.11:g.(?_65523251)_(65532735_?)dup
|
|
|
NC_000006.11:g.(?_65523251)_(65622656_?)del
|
|
|
NC_000006.11:g.(?_65523251)_(65707616_?)dup
|
|
|
NC_000006.11:g.(?_65523280)_(65525433_?)del
|
|
|
NC_000006.11:g.(?_65611996)_(65655817_?)dup
|
|
|
NC_000006.11:g.(?_65622367)_(65655817_?)dup
|
|
|
NC_000006.11:g.(?_65655666)_(65767640_?)dup
|
|
|
NC_000006.11:g.(?_65707465)_(65767630_?)dup
|
|
|
NC_000006.11:g.(?_66005736)_(66094413_?)dup
|
|
|
NC_000006.11:g.(?_66005746)_(66063520_?)dup
|
|
|
NC_000006.11:g.(?_66042207)_(66045049_?)dup
|
|
|
NC_000006.11:g.(?_66094269)_(66094403_?)dup
|
|
|
NC_000006.11:g.(?_66112351)_(66115280_?)dup
|
|
|
NC_000006.11:g.(?_66112361)_(66115270_?)dup
|
|
|
NC_000006.11:g.(?_66200467)_(66205886_?)dup
|
|
|
NC_000006.12:g.(?_64230582)_(64230834_?)dup
|
|
|
NC_000006.12:g.(?_64813368)_(64822832_?)dup
|
|
|
NC_000006.12:g.(?_64813368)_(65057737_?)dup
|
|
|
NC_000006.12:g.(?_64997572)_(64997713_?)dup
|
|
|
NC_000006.12:g.(?_65295853)_(65296129_?)dup
|
|
|
NC_000006.12:g.(?_65332314)_(65353627_?)dup
|
|
|
NC_000006.12:g.(?_65384386)_(65405367_?)dup
|
|
|
NM_001142800.2(EYS):c.1056+2T>C
|
rs2150365452
|
|
NM_001142800.2(EYS):c.1057-2del
|
|
|
NM_001142800.2(EYS):c.1184+1G>A
|
rs2150363733
|
|
NM_001142800.2(EYS):c.1184+2T>C
|
|
|
NM_001142800.2(EYS):c.1185-6T>G
|
rs565046666
|
|
NM_001142800.2(EYS):c.1299+1G>T
|
rs199830721
|
|
NM_001142800.2(EYS):c.1299+2T>A
|
rs2150351826
|
|
NM_001142800.2(EYS):c.1300-1G>A
|
|
|
NM_001142800.2(EYS):c.1300-3_1300-2delinsTT
|
rs2150327364
|
|
NM_001142800.2(EYS):c.1460-1G>A
|
|
|
NM_001142800.2(EYS):c.1599+1G>T
|
rs2150319815
|
|
NM_001142800.2(EYS):c.1599+2T>A
|
|
|
NM_001142800.2(EYS):c.1599+2T>G
|
|
|
NM_001142800.2(EYS):c.1708_1766+12del
|
|
|
NM_001142800.2(EYS):c.1766+1G>A
|
|
|
NM_001142800.2(EYS):c.2021_2023+1dup
|
rs2150286198
|
|
NM_001142800.2(EYS):c.2023+5G>T
|
rs1287889008
|
|
NM_001142800.2(EYS):c.2024-1G>C
|
|
|
NM_001142800.2(EYS):c.2137+2T>C
|
rs1483428079
|
|
NM_001142800.2(EYS):c.2260-1G>T
|
|
|
NM_001142800.2(EYS):c.2260-1_2263delinsCAC
|
|
|
NM_001142800.2(EYS):c.2381+1G>A
|
rs1769267226
|
|
NM_001142800.2(EYS):c.2738+1G>A
|
rs1767696253
|
|
NM_001142800.2(EYS):c.2738+1G>T
|
rs1767696253
|
|
NM_001142800.2(EYS):c.2739-1G>A
|
rs943468139
|
|
NM_001142800.2(EYS):c.2739-1G>T
|
rs943468139
|
|
NM_001142800.2(EYS):c.2847-1G>T
|
|
|
NM_001142800.2(EYS):c.2993-1G>A
|
|
|
NM_001142800.2(EYS):c.3164+2T>C
|
|
|
NM_001142800.2(EYS):c.3165-2A>G
|
rs2150022025
|
|
NM_001142800.2(EYS):c.3568+1G>A
|
rs1767600988
|
|
NM_001142800.2(EYS):c.3568+1G>C
|
|
|
NM_001142800.2(EYS):c.3684+1G>A
|
|
|
NM_001142800.2(EYS):c.525_527del (p.Glu176del)
|
rs780433094
|
|
NM_001142800.2(EYS):c.5645-1G>A
|
|
|
NM_001142800.2(EYS):c.5835+1G>T
|
rs1774851704
|
|
NM_001142800.2(EYS):c.5836-1G>A
|
rs2150463984
|
|
NM_001142800.2(EYS):c.5836-1G>C
|
rs2150463984
|
|
NM_001142800.2(EYS):c.5836-2del
|
rs2150463985
|
|
NM_001142800.2(EYS):c.5927+1G>A
|
|
|
NM_001142800.2(EYS):c.6079-2A>G
|
|
|
NM_001142800.2(EYS):c.6192-1G>A
|
|
|
NM_001142800.2(EYS):c.6415T>C (p.Cys2139Arg)
|
rs1378663182
|
|
NM_001142800.2(EYS):c.6424+1G>A
|
|
|
NM_001142800.2(EYS):c.6424+2T>C
|
|
|
NM_001142800.2(EYS):c.6571+6T>C
|
rs1582241382
|
|
NM_001142800.2(EYS):c.6572-2A>C
|
rs1771378101
|
|
NM_001142800.2(EYS):c.6834+2T>C
|
|
|
NM_001142800.2(EYS):c.7055+1G>A
|
rs1582079626
|
|
NM_001142800.2(EYS):c.7055+2T>C
|
|
|
NM_001142800.2(EYS):c.7056-1G>C
|
rs1772620934
|
|
NM_001142800.2(EYS):c.7056-2A>C
|
rs1772621012
|
|
NM_001142800.2(EYS):c.7056-2A>G
|
rs1772621012
|
|
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)
|
rs915505702
|
|
NM_001142800.2(EYS):c.7228_7228+1delinsTA
|
rs1772614934
|
|
NM_001142800.2(EYS):c.7229-1G>A
|
rs1554171033
|
|
NM_001142800.2(EYS):c.7229-1G>T
|
rs1554171033
|
|
NM_001142800.2(EYS):c.7412-1G>A
|
rs1167742176
|
|
NM_001142800.2(EYS):c.7412-2A>G
|
rs2149670951
|
|
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.7579-1G>T
|
|
|
NM_001142800.2(EYS):c.7724-2A>G
|
rs1770114606
|
|
NM_001142800.2(EYS):c.7898+1G>A
|
rs1206861190
|
|
NM_001142800.2(EYS):c.8072-1G>T
|
|
|
NM_001142800.2(EYS):c.8072-2A>G
|
|
|
NM_001142800.2(EYS):c.862+1G>A
|
|
|
NM_001142800.2(EYS):c.862+2T>C
|
|
|
NM_001142800.2(EYS):c.863-16_872del
|
|
|