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.35T>C (p.Met12Thr)
|
rs755947942
|
0.00006
|
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.967G>T (p.Gly323Ter)
|
rs746499646
|
0.00004
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
NM_001142800.2(EYS):c.3266del (p.Met1089fs)
|
rs1329066633
|
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.8111T>G (p.Leu2704Ter)
|
rs779983752
|
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.2992G>A (p.Gly998Ser)
|
rs1010982936
|
0.00002
|
NM_001142800.2(EYS):c.32dup (p.Met12fs)
|
rs779372264
|
0.00002
|
NM_001142800.2(EYS):c.511C>T (p.Gln171Ter)
|
rs747865323
|
0.00002
|
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)
|
rs868349465
|
0.00002
|
NM_001142800.2(EYS):c.78_79dup (p.Gln27fs)
|
rs1352380841
|
0.00002
|
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)
|
rs1471994744
|
0.00001
|
NM_001142800.2(EYS):c.14C>A (p.Ser5Ter)
|
rs745916400
|
0.00001
|
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter)
|
rs1177052380
|
0.00001
|
NM_001142800.2(EYS):c.1812del (p.Asn604fs)
|
rs1216698566
|
0.00001
|
NM_001142800.2(EYS):c.1982T>A (p.Leu661Ter)
|
rs1295206142
|
0.00001
|
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)
|
rs371032798
|
0.00001
|
NM_001142800.2(EYS):c.2641+2T>C
|
rs960578029
|
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.2964C>G (p.Tyr988Ter)
|
rs1245121527
|
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.3970del (p.Leu1324fs)
|
rs1431710414
|
0.00001
|
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)
|
rs930421180
|
0.00001
|
NM_001142800.2(EYS):c.4199C>A (p.Ser1400Ter)
|
rs1245304444
|
0.00001
|
NM_001142800.2(EYS):c.4219C>T (p.Gln1407Ter)
|
rs1421392730
|
0.00001
|
NM_001142800.2(EYS):c.4452G>A (p.Trp1484Ter)
|
rs1428994453
|
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.5054C>G (p.Ser1685Ter)
|
rs1293996279
|
0.00001
|
NM_001142800.2(EYS):c.5511G>A (p.Trp1837Ter)
|
rs745574120
|
0.00001
|
NM_001142800.2(EYS):c.5644+5G>A
|
rs794727412
|
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.630C>G (p.Tyr210Ter)
|
rs1469481918
|
0.00001
|
NM_001142800.2(EYS):c.634C>T (p.Gln212Ter)
|
rs371915861
|
0.00001
|
NM_001142800.2(EYS):c.6374C>G (p.Ser2125Ter)
|
rs746829106
|
0.00001
|
NM_001142800.2(EYS):c.6490del (p.Val2164fs)
|
rs1163089098
|
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.684C>A (p.Cys228Ter)
|
rs1312069480
|
0.00001
|
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)
|
rs1060499783
|
0.00001
|
NM_001142800.2(EYS):c.7277dup (p.Tyr2426Ter)
|
rs1303821903
|
0.00001
|
NM_001142800.2(EYS):c.7578+1G>A
|
rs1228475082
|
0.00001
|
NM_001142800.2(EYS):c.7654del (p.Tyr2551_Val2552insTer)
|
rs1064796020
|
0.00001
|
NM_001142800.2(EYS):c.7822C>T (p.Gln2608Ter)
|
rs1770111064
|
0.00001
|
NM_001142800.2(EYS):c.7842C>A (p.Cys2614Ter)
|
rs374494800
|
0.00001
|
NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter)
|
rs1197863938
|
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.7970del (p.Asp2657fs)
|
rs1477098845
|
0.00001
|
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)
|
rs527236076
|
0.00001
|
NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter)
|
rs1299355731
|
0.00001
|
NM_001142800.2(EYS):c.8168del (p.Gln2723fs)
|
rs1168101857
|
0.00001
|
NM_001142800.2(EYS):c.96G>A (p.Trp32Ter)
|
rs1388177618
|
0.00001
|
GRCh37/hg19 6q12(chr6:65558549-65955260)x1
|
|
|
GRCh37/hg19 6q12(chr6:65578764-66019421)x3
|
|
|
GRCh37/hg19 6q12(chr6:65600602-65657511)x1
|
|
|
GRCh37/hg19 6q12(chr6:65603577-65657511)x1
|
|
|
GRCh37/hg19 6q12(chr6:65611750-65764521)x1
|
|
|
GRCh37/hg19 6q12(chr6:65614168-65949448)x1
|
|
|
GRCh37/hg19 6q12(chr6:65648091-65663089)x1
|
|
|
GRCh37/hg19 6q12(chr6:65690292-65840802)x1
|
|
|
NC_000006.11:g.(?_64430492)_(64431713_?)del
|
|
|
NC_000006.11:g.(?_64430660)_(64432714_?)del
|
|
|
NC_000006.11:g.(?_64451796)_(64574261_?)del
|
|
|
NC_000006.11:g.(?_64472344)_(64574261_?)del
|
|
|
NC_000006.11:g.(?_64487889)_(64488083_?)del
|
|
|
NC_000006.11:g.(?_64574069)_(64574261_?)del
|
|
|
NC_000006.11:g.(?_64694256)_(64694516_?)del
|
|
|
NC_000006.11:g.(?_64694256)_(64791915_?)dup
|
|
|
NC_000006.11:g.(?_64694256)_(65016995_?)del
|
|
|
NC_000006.11:g.(?_64694266)_(64791905_?)del
|
|
|
NC_000006.11:g.(?_64708958)_(64709086_?)del
|
|
|
NC_000006.11:g.(?_64776211)_(64791915_?)del
|
|
|
NC_000006.11:g.(?_64791739)_(64791905_?)del
|
|
|
NC_000006.11:g.(?_64791739)_(64940727_?)del
|
|
|
NC_000006.11:g.(?_64940465)_(66063530_?)del
|
|
|
NC_000006.11:g.(?_64940475)_(65016985_?)del
|
|
|
NC_000006.11:g.(?_64940475)_(65336148_?)del
|
|
|
NC_000006.11:g.(?_64940485)_(65336138_?)del
|
|
|
NC_000006.11:g.(?_65016853)_(65016985_?)dup
|
|
|
NC_000006.11:g.(?_65098563)_(65098753_?)del
|
|
|
NC_000006.11:g.(?_65098563)_(65098753_?)dup
|
|
|
NC_000006.11:g.(?_65098563)_(65336158_?)del
|
|
|
NC_000006.11:g.(?_65098563)_(65767640_?)del
|
|
|
NC_000006.11:g.(?_65098563)_(66417118_?)del
|
|
|
NC_000006.11:g.(?_65098573)_(65149255_?)del
|
|
|
NC_000006.11:g.(?_65146047)_(65336158_?)del
|
|
|
NC_000006.11:g.(?_65146057)_(65149255_?)del
|
|
|
NC_000006.11:g.(?_65149045)_(65336148_?)del
|
|
|
NC_000006.11:g.(?_65300106)_(65707606_?)del
|
|
|
NC_000006.11:g.(?_65301748)_(65303701_?)del
|
|
|
NC_000006.11:g.(?_65327301)_(65336148_?)del
|
|
|
NC_000006.11:g.(?_65523251)_(65612413_?)del
|
|
|
NC_000006.11:g.(?_65523251)_(65767640_?)del
|
|
|
NC_000006.11:g.(?_65523261)_(65532725_?)del
|
|
|
NC_000006.11:g.(?_65523261)_(65655817_?)del
|
|
|
NC_000006.11:g.(?_65531528)_(65622646_?)del
|
|
|
NC_000006.11:g.(?_65531528)_(66205758_?)del
|
|
|
NC_000006.11:g.(?_65596570)_(65622656_?)del
|
|
|
NC_000006.11:g.(?_65596580)_(65596745_?)del
|
|
|
NC_000006.11:g.(?_65611986)_(65767640_?)del
|
|
|
NC_000006.11:g.(?_65622357)_(65622656_?)del
|
|
|
NC_000006.11:g.(?_65622367)_(65767630_?)del
|
|
|
NC_000006.11:g.(?_65622367)_(66115270_?)del
|
|
|
NC_000006.11:g.(?_65622377)_(65655807_?)del
|
|
|
NC_000006.11:g.(?_65655676)_(65707606_?)del
|
|
|
NC_000006.11:g.(?_65655686)_(65655807_?)del
|
|
|
NC_000006.11:g.(?_65707455)_(65707616_?)dup
|
|
|
NC_000006.11:g.(?_65707455)_(65767640_?)del
|
|
|
NC_000006.11:g.(?_65707475)_(65707596_?)dup
|
|
|
NC_000006.11:g.(?_66005736)_(66006032_?)del
|
|
|
NC_000006.11:g.(?_66005746)_(66042320_?)del
|
|
|
NC_000006.11:g.(?_66005746)_(66115270_?)del
|
|
|
NC_000006.11:g.(?_66005746)_(66417039_?)del
|
|
|
NC_000006.11:g.(?_66042207)_(66063520_?)del
|
|
|
NC_000006.11:g.(?_66044853)_(66115280_?)del
|
|
|
NC_000006.11:g.(?_66053911)_(66054090_?)del
|
|
|
NC_000006.11:g.(?_66053931)_(66054070_?)del
|
|
|
NC_000006.11:g.(?_66094259)_(66417118_?)del
|
|
|
NC_000006.11:g.(?_66094269)_(66205758_?)del
|
|
|
NC_000006.11:g.(?_66112351)_(66112518_?)del
|
|
|
NC_000006.11:g.(?_66112351)_(66205886_?)del
|
|
|
NC_000006.11:g.(?_66112361)_(66115270_?)del
|
|
|
NC_000006.11:g.(?_66200477)_(66417039_?)del
|
|
|
NC_000006.11:g.(?_66200487)_(66205303_?)del
|
|
|
NC_000006.11:g.(?_66204536)_(66205886_?)del
|
|
|
NC_000006.11:g.(?_66417023)_(66417118_?)del
|
|
|
NC_000006.12:g.(?_63864176)_(63999193_?)del
|
|
|
NC_000006.12:g.(?_64066328)_(64082012_?)del
|
|
|
NC_000006.12:g.(?_64066338)_(64082002_?)del
|
|
|
NC_000006.12:g.(?_64066338)_(64626245_?)del
|
|
|
NC_000006.12:g.(?_64230592)_(64230824_?)del
|
|
|
NC_000006.12:g.(?_64436164)_(65495865_?)del
|
|
|
NC_000006.12:g.(?_64590213)_(64626255_?)del
|
|
|
NC_000006.12:g.(?_64617408)_(64617543_?)del
|
|
|
NC_000006.12:g.(?_64813368)_(65057737_?)del
|
|
|
NC_000006.12:g.(?_64813378)_(64945914_?)del
|
|
|
NC_000006.12:g.(?_64813378)_(65057727_?)del
|
|
|
NC_000006.12:g.(?_64886697)_(64945914_?)del
|
|
|
NC_000006.12:g.(?_64902103)_(64902510_?)del
|
|
|
NC_000006.12:g.(?_64902103)_(64945924_?)del
|
|
|
NC_000006.12:g.(?_64902113)_(64945914_?)del
|
|
|
NC_000006.12:g.(?_64902113)_(65495410_?)del
|
|
|
NC_000006.12:g.(?_64912474)_(64912753_?)del
|
|
|
NC_000006.12:g.(?_64945783)_(64945924_?)del
|
|
|
NC_000006.12:g.(?_64945793)_(64997703_?)del
|
|
|
NC_000006.12:g.(?_64997572)_(65057737_?)del
|
|
|
NC_000006.12:g.(?_64997572)_(65495865_?)del
|
|
|
NC_000006.12:g.(?_64997582)_(64997703_?)del
|
|
|
NC_000006.12:g.(?_64997582)_(65057727_?)del
|
|
|
NC_000006.12:g.(?_65295853)_(65335156_?)del
|
|
|
NC_000006.12:g.(?_65295853)_(65384510_?)del
|
|
|
NC_000006.12:g.(?_65295863)_(65304939_?)del
|
|
|
NC_000006.12:g.(?_65332314)_(65335156_?)del
|
|
|
NC_000006.12:g.(?_65384376)_(65384510_?)del
|
|
|
NC_000006.12:g.(?_65384386)_(65495410_?)del
|
|
|
NC_000006.12:g.(?_65402468)_(65495865_?)del
|
|
|
NC_000006.12:g.65490708del
|
rs762794153
|
|
NM_001142800.2(EYS):c.103C>T (p.Gln35Ter)
|
rs749410700
|
|
NM_001142800.2(EYS):c.1052C>A (p.Ser351Ter)
|
|
|
NM_001142800.2(EYS):c.105del (p.Gln35fs)
|
rs1175908615
|
|
NM_001142800.2(EYS):c.1068C>A (p.Cys356Ter)
|
rs1766556883
|
|
NM_001142800.2(EYS):c.1068dup (p.Ile357fs)
|
|
|
NM_001142800.2(EYS):c.1083_1108del (p.Phe362fs)
|
|
|
NM_001142800.2(EYS):c.10A>T (p.Lys4Ter)
|
|
|
NM_001142800.2(EYS):c.113C>G (p.Ser38Ter)
|
|
|
NM_001142800.2(EYS):c.1182C>A (p.Cys394Ter)
|
|
|
NM_001142800.2(EYS):c.1193C>G (p.Ser398Ter)
|
rs866804139
|
|
NM_001142800.2(EYS):c.1211del (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1234del (p.Cys412fs)
|
rs1765726534
|
|
NM_001142800.2(EYS):c.1272G>A (p.Trp424Ter)
|
|
|
NM_001142800.2(EYS):c.1272dup (p.Cys425fs)
|
rs2150351865
|
|
NM_001142800.2(EYS):c.1299+5_1299+8del
|
rs1562140604
|
|
NM_001142800.2(EYS):c.1300dup (p.Tyr434fs)
|
|
|
NM_001142800.2(EYS):c.1307_1310del (p.Cys436fs)
|
|
|
NM_001142800.2(EYS):c.1328dup (p.Asn443fs)
|
rs1582176424
|
|
NM_001142800.2(EYS):c.1335T>A (p.Cys445Ter)
|
|
|
NM_001142800.2(EYS):c.1354del (p.Tyr452fs)
|
|
|
NM_001142800.2(EYS):c.1356C>G (p.Tyr452Ter)
|
|
|
NM_001142800.2(EYS):c.1358_1359del (p.Leu453fs)
|
rs1450999049
|
|
NM_001142800.2(EYS):c.1387_1388insA (p.Val463fs)
|
rs2150327232
|
|
NM_001142800.2(EYS):c.1400del (p.Gly467fs)
|
rs770403975
|
|
NM_001142800.2(EYS):c.1426C>T (p.Gln476Ter)
|
rs1345460401
|
|
NM_001142800.2(EYS):c.1442G>A (p.Trp481Ter)
|
|
|
NM_001142800.2(EYS):c.1443G>A (p.Trp481Ter)
|
|
|
NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter)
|
rs774464019
|
|
NM_001142800.2(EYS):c.1480C>T (p.Gln494Ter)
|
rs1207818522
|
|
NM_001142800.2(EYS):c.1486del (p.Val496fs)
|
rs2150320007
|
|
NM_001142800.2(EYS):c.1501_1502del (p.Phe501fs)
|
rs2150319960
|
|
NM_001142800.2(EYS):c.1521C>A (p.Cys507Ter)
|
rs1416709406
|
|
NM_001142800.2(EYS):c.1536del (p.Tyr513fs)
|
rs2150319909
|
|
NM_001142800.2(EYS):c.1575G>A (p.Trp525Ter)
|
|
|
NM_001142800.2(EYS):c.1584dup (p.Glu529Ter)
|
rs1770299906
|
|
NM_001142800.2(EYS):c.1603del (p.Cys535fs)
|
rs2150313808
|
|
NM_001142800.2(EYS):c.1637_1640del (p.Asp546fs)
|
rs2150313758
|
|
NM_001142800.2(EYS):c.1641_1644del (p.Ser547fs)
|
rs752504462
|
|
NM_001142800.2(EYS):c.1645G>T (p.Glu549Ter)
|
|
|
NM_001142800.2(EYS):c.1650T>G (p.Tyr550Ter)
|
rs1769936722
|
|
NM_001142800.2(EYS):c.1711_1712inv (p.Gln571Ter)
|
|
|
NM_001142800.2(EYS):c.1720G>T (p.Glu574Ter)
|
|
|
NM_001142800.2(EYS):c.173G>A (p.Trp58Ter)
|
rs2127271728
|
|
NM_001142800.2(EYS):c.1747_1748del (p.Lys582_Asp583insTer)
|
|
|
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter)
|
rs527236072
|
|
NM_001142800.2(EYS):c.1793_1800dup (p.Cys601fs)
|
|
|
NM_001142800.2(EYS):c.179dup (p.Leu60fs)
|
|
|
NM_001142800.2(EYS):c.1802_1805del (p.Cys601fs)
|
|
|
NM_001142800.2(EYS):c.1803T>A (p.Cys601Ter)
|
|
|
NM_001142800.2(EYS):c.1824del (p.Cys608_Leu609insTer)
|
|
|
NM_001142800.2(EYS):c.1845del (p.Val616fs)
|
|
|
NM_001142800.2(EYS):c.189_195del (p.Asn63fs)
|
|
|
NM_001142800.2(EYS):c.1910_1913del (p.Arg637fs)
|
rs2150286291
|
|
NM_001142800.2(EYS):c.1961dup (p.Asn654fs)
|
rs749103801
|
|
NM_001142800.2(EYS):c.1963G>T (p.Gly655Ter)
|
|
|
NM_001142800.2(EYS):c.2023+1G>A
|
rs980430860
|
|
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter)
|
rs372354156
|
|
NM_001142800.2(EYS):c.2068del (p.Cys690fs)
|
|
|
NM_001142800.2(EYS):c.2109C>G (p.Tyr703Ter)
|
rs377090818
|
|
NM_001142800.2(EYS):c.2133_2134insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCGTCGGCCTCCCTAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT (p.Lys712delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_001142800.2(EYS):c.2133del (p.Phe711fs)
|
|
|
NM_001142800.2(EYS):c.2159T>A (p.Leu720Ter)
|
|
|
NM_001142800.2(EYS):c.216del (p.Ala73fs)
|
rs1459031771
|
|
NM_001142800.2(EYS):c.2174_2175del (p.Tyr725fs)
|
|
|
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)
|
rs794727120
|
|
NM_001142800.2(EYS):c.2259+1G>C
|
rs752736741
|
|
NM_001142800.2(EYS):c.2259+1G>T
|
|
|
NM_001142800.2(EYS):c.2275_2276del (p.Cys759fs)
|
rs758506938
|
|
NM_001142800.2(EYS):c.2277C>A (p.Cys759Ter)
|
|
|
NM_001142800.2(EYS):c.2289G>A (p.Trp763Ter)
|
|
|
NM_001142800.2(EYS):c.2308C>T (p.Gln770Ter)
|
rs992863438
|
|
NM_001142800.2(EYS):c.2311G>T (p.Glu771Ter)
|
|
|
NM_001142800.2(EYS):c.232del (p.Cys78fs)
|
rs1468020897
|
|
NM_001142800.2(EYS):c.2340C>A (p.Cys780Ter)
|
|
|
NM_001142800.2(EYS):c.2370C>G (p.Tyr790Ter)
|
rs1439242117
|
|
NM_001142800.2(EYS):c.2374del (p.Ser792fs)
|
rs2150096054
|
|
NM_001142800.2(EYS):c.2410C>T (p.Gln804Ter)
|
|
|
NM_001142800.2(EYS):c.2425G>T (p.Glu809Ter)
|
rs951544417
|
|
NM_001142800.2(EYS):c.2439C>A (p.Cys813Ter)
|
rs367546131
|
|
NM_001142800.2(EYS):c.2474del (p.His825fs)
|
rs2150076878
|
|
NM_001142800.2(EYS):c.2486del (p.Ile829fs)
|
rs2150076869
|
|
NM_001142800.2(EYS):c.2499del (p.Phe833fs)
|
|
|
NM_001142800.2(EYS):c.2513del (p.Pro838fs)
|
|
|
NM_001142800.2(EYS):c.2554del (p.Leu852fs)
|
rs2150076802
|
|
NM_001142800.2(EYS):c.2579_2580delinsAA (p.Cys860Ter)
|
|
|
NM_001142800.2(EYS):c.2638G>T (p.Glu880Ter)
|
rs2150076741
|
|
NM_001142800.2(EYS):c.2641+1G>A
|
rs1768029728
|
|
NM_001142800.2(EYS):c.2652dup (p.Lys885Ter)
|
rs1767699695
|
|
NM_001142800.2(EYS):c.2657del (p.Asn886fs)
|
|
|
NM_001142800.2(EYS):c.2694del (p.Cys899fs)
|
rs2150071783
|
|
NM_001142800.2(EYS):c.2706T>G (p.Tyr902Ter)
|
|
|
NM_001142800.2(EYS):c.2715_2716del (p.Cys905_Glu906delinsTer)
|
rs2150071769
|
|
NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter)
|
rs1391928253
|
|
NM_001142800.2(EYS):c.2791G>T (p.Glu931Ter)
|
|
|
NM_001142800.2(EYS):c.2807del (p.Pro936fs)
|
|
|
NM_001142800.2(EYS):c.2811_2830del (p.Lys938fs)
|
rs2150071623
|
|
NM_001142800.2(EYS):c.2820_2824del (p.Gly941fs)
|
rs1583277585
|
|
NM_001142800.2(EYS):c.2829T>A (p.Cys943Ter)
|
|
|
NM_001142800.2(EYS):c.2845A>T (p.Arg949Ter)
|
|
|
NM_001142800.2(EYS):c.2854dup (p.Cys952fs)
|
rs779877426
|
|
NM_001142800.2(EYS):c.289C>T (p.Gln97Ter)
|
rs1766202141
|
|
NM_001142800.2(EYS):c.2907del (p.Lys969fs)
|
|
|
NM_001142800.2(EYS):c.2981del (p.Pro994fs)
|
rs1583260302
|
|
NM_001142800.2(EYS):c.298G>T (p.Glu100Ter)
|
|
|
NM_001142800.2(EYS):c.3001del (p.Cys1001fs)
|
rs2150022848
|
|
NM_001142800.2(EYS):c.3003_3004del (p.Cys1001_Glu1002delinsTer)
|
rs1764940309
|
|
NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter)
|
rs1764939836
|
|
NM_001142800.2(EYS):c.3105dup (p.Gly1036fs)
|
|
|
NM_001142800.2(EYS):c.3106G>T (p.Gly1036Ter)
|
|
|
NM_001142800.2(EYS):c.3106_3113delinsTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACC (p.Gly1036_His1038delinsPhePhePhePhePhePheXaaXaaXaaXaaPhePhePhePheIleIleLeuTer)
|
rs2150022701
|
|
NM_001142800.2(EYS):c.3112del (p.His1038fs)
|
|
|
NM_001142800.2(EYS):c.3143C>G (p.Ser1048Ter)
|
|
|
NM_001142800.2(EYS):c.3146del (p.Asn1049fs)
|
|
|
NM_001142800.2(EYS):c.3153del (p.Leu1052fs)
|
rs1764934644
|
|
NM_001142800.2(EYS):c.3172G>T (p.Glu1058Ter)
|
rs2150022015
|
|
NM_001142800.2(EYS):c.3178_3179del (p.Leu1059_Ile1060insTer)
|
|
|
NM_001142800.2(EYS):c.3201T>A (p.Cys1067Ter)
|
rs2150021992
|
|
NM_001142800.2(EYS):c.3213del (p.Thr1072fs)
|
|
|
NM_001142800.2(EYS):c.3280del (p.Cys1094fs)
|
|
|
NM_001142800.2(EYS):c.3298G>T (p.Gly1100Ter)
|
|
|
NM_001142800.2(EYS):c.3349dup (p.Ser1117fs)
|
|
|
NM_001142800.2(EYS):c.3363del (p.Cys1121fs)
|
rs2150016153
|
|
NM_001142800.2(EYS):c.3378del (p.Asn1127fs)
|
|
|
NM_001142800.2(EYS):c.3385del (p.Val1129fs)
|
rs2150016133
|
|
NM_001142800.2(EYS):c.342T>A (p.Cys114Ter)
|
rs1418930514
|
|
NM_001142800.2(EYS):c.3435_3436insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGCTGGACATACTTTT (p.Asp1146delinsPhePhePhePhePhePheXaaXaaXaaXaaGlyPheHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer)
|
|
|
NM_001142800.2(EYS):c.3441C>A (p.Cys1147Ter)
|
rs2150016080
|
|
NM_001142800.2(EYS):c.3443+1G>A
|
rs373441420
|
|
NM_001142800.2(EYS):c.3490G>T (p.Glu1164Ter)
|
rs2149856835
|
|
NM_001142800.2(EYS):c.3503C>A (p.Ser1168Ter)
|
rs894122437
|
|
NM_001142800.2(EYS):c.3561C>A (p.Cys1187Ter)
|
rs1767601438
|
|
NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter)
|
rs2149856749
|
|
NM_001142800.2(EYS):c.3567del (p.Gly1190fs)
|
rs1767601116
|
|
NM_001142800.2(EYS):c.3573G>A (p.Trp1191Ter)
|
rs1239806410
|
|
NM_001142800.2(EYS):c.3581_3582del (p.His1194fs)
|
rs1767312015
|
|
NM_001142800.2(EYS):c.3588dup (p.Glu1197Ter)
|
rs2149849545
|
|
NM_001142800.2(EYS):c.3618_3619del (p.Val1208fs)
|
|
|
NM_001142800.2(EYS):c.361del (p.Glu121fs)
|
rs1582376560
|
|
NM_001142800.2(EYS):c.3656_3657delinsAA (p.Ser1219Ter)
|
rs2149849472
|
|
NM_001142800.2(EYS):c.3676G>T (p.Gly1226Ter)
|
rs1405658671
|
|
NM_001142800.2(EYS):c.3699del (p.Leu1234fs)
|
rs1318739667
|
|
NM_001142800.2(EYS):c.3768_3769dup (p.Ser1257fs)
|
rs2149833352
|
|
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter)
|
rs1291867456
|
|
NM_001142800.2(EYS):c.3783_3784del (p.Thr1262fs)
|
rs2149833339
|
|
NM_001142800.2(EYS):c.3789dup (p.Pro1264fs)
|
|
|
NM_001142800.2(EYS):c.3799G>T (p.Glu1267Ter)
|
rs1704195448
|
|
NM_001142800.2(EYS):c.3862dup (p.Tyr1288fs)
|
rs2149833264
|
|
NM_001142800.2(EYS):c.3874C>T (p.Gln1292Ter)
|
|
|
NM_001142800.2(EYS):c.3877+1G>T
|
|
|
NM_001142800.2(EYS):c.3885del (p.Lys1295fs)
|
rs1766427552
|
|
NM_001142800.2(EYS):c.3886C>T (p.Gln1296Ter)
|
|
|
NM_001142800.2(EYS):c.3889_3892del (p.Thr1297fs)
|
rs1766427315
|
|
NM_001142800.2(EYS):c.3903del (p.Lys1301fs)
|
|
|
NM_001142800.2(EYS):c.3941del (p.Arg1314fs)
|
|
|
NM_001142800.2(EYS):c.3951_3952del (p.Pro1318fs)
|
rs1270740001
|
|
NM_001142800.2(EYS):c.3968T>G (p.Leu1323Ter)
|
|
|
NM_001142800.2(EYS):c.4011_4012del (p.His1337fs)
|
rs2149832523
|
|
NM_001142800.2(EYS):c.403_404del (p.Thr135fs)
|
rs2127271339
|
|
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs)
|
rs1582376398
|
|
NM_001142800.2(EYS):c.4077del (p.Gln1360fs)
|
|
|
NM_001142800.2(EYS):c.4078C>T (p.Gln1360Ter)
|
|
|
NM_001142800.2(EYS):c.4103dup (p.Ser1369fs)
|
|
|
NM_001142800.2(EYS):c.4116_4117insGC (p.Ile1373fs)
|
rs1582930536
|
|
NM_001142800.2(EYS):c.414dup (p.Lys139Ter)
|
|
|
NM_001142800.2(EYS):c.4152dup (p.Pro1385fs)
|
rs1185686653
|
|
NM_001142800.2(EYS):c.4154_4155del (p.Pro1385fs)
|
rs1766416713
|
|
NM_001142800.2(EYS):c.4195del (p.Met1399fs)
|
rs2149832355
|
|
NM_001142800.2(EYS):c.4207del (p.Ile1403fs)
|
rs1766414666
|
|
NM_001142800.2(EYS):c.4233del (p.Phe1411fs)
|
|
|
NM_001142800.2(EYS):c.4253del (p.Ala1418fs)
|
|
|
NM_001142800.2(EYS):c.4309G>T (p.Glu1437Ter)
|
|
|
NM_001142800.2(EYS):c.4316del (p.Asn1439fs)
|
|
|
NM_001142800.2(EYS):c.4321C>T (p.Gln1441Ter)
|
rs1766410692
|
|
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)
|
rs761238771
|
|
NM_001142800.2(EYS):c.4386_4387insGCCT (p.Arg1463delinsAlaTer)
|
|
|
NM_001142800.2(EYS):c.4390_4391insA (p.Gly1464fs)
|
|
|
NM_001142800.2(EYS):c.4392_4393del (p.Ala1465fs)
|
|
|
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)
|
rs750840208
|
|
NM_001142800.2(EYS):c.445dup (p.Ile149fs)
|
|
|
NM_001142800.2(EYS):c.4523T>G (p.Leu1508Ter)
|
|
|
NM_001142800.2(EYS):c.454dup (p.Met152fs)
|
rs1766191833
|
|
NM_001142800.2(EYS):c.4557del (p.Ala1520fs)
|
rs768092887
|
|
NM_001142800.2(EYS):c.4579C>T (p.Gln1527Ter)
|
rs1490143139
|
|
NM_001142800.2(EYS):c.4606C>T (p.Gln1536Ter)
|
rs557152369
|
|
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.4615dup (p.Thr1539fs)
|
|
|
NM_001142800.2(EYS):c.4655T>G (p.Leu1552Ter)
|
rs1054515897
|
|
NM_001142800.2(EYS):c.4665_4666del (p.Ala1557fs)
|
|
|
NM_001142800.2(EYS):c.4760G>A (p.Trp1587Ter)
|
rs2149831862
|
|
NM_001142800.2(EYS):c.4761del (p.Phe1586_Trp1587insTer)
|
|
|
NM_001142800.2(EYS):c.4776_4779del (p.Ile1592fs)
|
|
|
NM_001142800.2(EYS):c.4788G>A (p.Trp1596Ter)
|
|
|
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs)
|
rs886044304
|
|
NM_001142800.2(EYS):c.4841_4863del (p.Ala1614fs)
|
rs2149831757
|
|
NM_001142800.2(EYS):c.4859_4862del (p.Ser1620fs)
|
rs1242324755
|
|
NM_001142800.2(EYS):c.492_499del (p.Leu165fs)
|
rs1270977202
|
|
NM_001142800.2(EYS):c.4951del (p.Leu1651fs)
|
|
|
NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter)
|
rs909730457
|
|
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)
|
rs527236065
|
|
NM_001142800.2(EYS):c.4976T>A (p.Leu1659Ter)
|
|
|
NM_001142800.2(EYS):c.4976T>G (p.Leu1659Ter)
|
|
|
NM_001142800.2(EYS):c.4987_4990dup (p.Thr1664fs)
|
|
|
NM_001142800.2(EYS):c.4997del (p.Leu1666fs)
|
|
|
NM_001142800.2(EYS):c.5012C>A (p.Ser1671Ter)
|
|
|
NM_001142800.2(EYS):c.5033T>A (p.Leu1678Ter)
|
|
|
NM_001142800.2(EYS):c.5084C>G (p.Ser1695Ter)
|
|
|
NM_001142800.2(EYS):c.5110dup (p.Ile1704fs)
|
rs2149831487
|
|
NM_001142800.2(EYS):c.5149del (p.Val1716_Leu1717insTer)
|
rs1766378599
|
|
NM_001142800.2(EYS):c.5168T>A (p.Leu1723Ter)
|
|
|
NM_001142800.2(EYS):c.5176del (p.Glu1726fs)
|
|
|
NM_001142800.2(EYS):c.5182del (p.Ser1728fs)
|
rs1562079278
|
|
NM_001142800.2(EYS):c.5238del (p.Phe1746fs)
|
|
|
NM_001142800.2(EYS):c.523C>T (p.Gln175Ter)
|
|
|
NM_001142800.2(EYS):c.5249T>A (p.Leu1750Ter)
|
rs1766374293
|
|
NM_001142800.2(EYS):c.5251C>T (p.Gln1751Ter)
|
|
|
NM_001142800.2(EYS):c.526G>T (p.Glu176Ter)
|
rs2127271139
|
|
NM_001142800.2(EYS):c.5283T>A (p.Tyr1761Ter)
|
rs1158231145
|
|
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs)
|
rs761760327
|
|
NM_001142800.2(EYS):c.5296del (p.His1766fs)
|
rs2149831278
|
|
NM_001142800.2(EYS):c.5303del (p.Asn1768fs)
|
|
|
NM_001142800.2(EYS):c.5330T>A (p.Leu1777Ter)
|
|
|
NM_001142800.2(EYS):c.533dup (p.Ser179fs)
|
rs2127271125
|
|
NM_001142800.2(EYS):c.5353dup (p.Ser1785fs)
|
|
|
NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter)
|
rs1766367970
|
|
NM_001142800.2(EYS):c.5417del (p.Thr1806fs)
|
|
|
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter)
|
rs983691310
|
|
NM_001142800.2(EYS):c.549_558dup (p.Gly187fs)
|
|
|
NM_001142800.2(EYS):c.5510G>A (p.Trp1837Ter)
|
|
|
NM_001142800.2(EYS):c.5520G>A (p.Trp1840Ter)
|
rs2149831000
|
|
NM_001142800.2(EYS):c.5527C>T (p.Gln1843Ter)
|
rs2149830992
|
|
NM_001142800.2(EYS):c.5530_5534dup (p.Val1846fs)
|
rs1405016852
|
|
NM_001142800.2(EYS):c.5534del (p.Ser1845fs)
|
|
|
NM_001142800.2(EYS):c.5584_5587dup (p.Ser1863Ter)
|
|
|
NM_001142800.2(EYS):c.5644+2T>C
|
rs2149830870
|
|
NM_001142800.2(EYS):c.5661_5662insAA (p.Tyr1888fs)
|
rs2150466512
|
|
NM_001142800.2(EYS):c.5665del (p.Tyr1889fs)
|
|
|
NM_001142800.2(EYS):c.5677_5681del (p.Tyr1893fs)
|
|
|
NM_001142800.2(EYS):c.5683G>T (p.Glu1895Ter)
|
|
|
NM_001142800.2(EYS):c.571dup (p.Ser191fs)
|
rs2127271080
|
|
NM_001142800.2(EYS):c.5734C>T (p.Gln1912Ter)
|
|
|
NM_001142800.2(EYS):c.5748del (p.Tyr1917fs)
|
rs1774855104
|
|
NM_001142800.2(EYS):c.5751T>A (p.Tyr1917Ter)
|
|
|
NM_001142800.2(EYS):c.5786del (p.Asn1928_Leu1929insTer)
|
rs2150466350
|
|
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs)
|
rs1455826633
|
|
NM_001142800.2(EYS):c.5834_5835+4del
|
rs1582753394
|
|
NM_001142800.2(EYS):c.5834del (p.Lys1945fs)
|
rs774455587
|
|
NM_001142800.2(EYS):c.5838C>A (p.Tyr1946Ter)
|
|
|
NM_001142800.2(EYS):c.5841del (p.Tyr1949fs)
|
|
|
NM_001142800.2(EYS):c.5916dup (p.Leu1973fs)
|
rs1774741085
|
|
NM_001142800.2(EYS):c.5927+1G>T
|
rs1444115520
|
|
NM_001142800.2(EYS):c.5928-3_5928-1del
|
rs1554152094
|
|
NM_001142800.2(EYS):c.5958_5961del (p.Thr1987fs)
|
rs1561965266
|
|
NM_001142800.2(EYS):c.5980C>T (p.Gln1994Ter)
|
|
|
NM_001142800.2(EYS):c.6029C>G (p.Ser2010Ter)
|
|
|
NM_001142800.2(EYS):c.6032dup (p.Ser2012fs)
|
|
|
NM_001142800.2(EYS):c.6064_6065dup (p.Gly2023fs)
|
rs2150424909
|
|
NM_001142800.2(EYS):c.606C>A (p.Cys202Ter)
|
rs149741810
|
|
NM_001142800.2(EYS):c.6073dup (p.Ile2025fs)
|
rs2150424894
|
|
NM_001142800.2(EYS):c.6079-2A>G
|
|
|
NM_001142800.2(EYS):c.607C>T (p.Gln203Ter)
|
rs1766182274
|
|
NM_001142800.2(EYS):c.6102del (p.Phe2034fs)
|
rs1582571021
|
|
NM_001142800.2(EYS):c.6102dup (p.Thr2035fs)
|
rs1582571021
|
|
NM_001142800.2(EYS):c.6131_6134del (p.Asn2044fs)
|
rs2150375968
|
|
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter)
|
rs878853350
|
|
NM_001142800.2(EYS):c.6139A>T (p.Arg2047Ter)
|
rs1769476342
|
|
NM_001142800.2(EYS):c.6170del (p.Asn2057fs)
|
rs1769471435
|
|
NM_001142800.2(EYS):c.6174T>G (p.Tyr2058Ter)
|
rs1769471082
|
|
NM_001142800.2(EYS):c.618_619del (p.Ser207fs)
|
rs2127270969
|
|
NM_001142800.2(EYS):c.6196del (p.Gln2066fs)
|
|
|
NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs)
|
rs1554220416
|
|
NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter)
|
rs1562263385
|
|
NM_001142800.2(EYS):c.6270G>A (p.Trp2090Ter)
|
|
|
NM_001142800.2(EYS):c.6287_6288del (p.Ser2096fs)
|
rs2150338009
|
|
NM_001142800.2(EYS):c.630C>A (p.Tyr210Ter)
|
rs1469481918
|
|
NM_001142800.2(EYS):c.6313C>T (p.Gln2105Ter)
|
rs1188834464
|
|
NM_001142800.2(EYS):c.6324C>A (p.Cys2108Ter)
|
rs1469992138
|
|
NM_001142800.2(EYS):c.6369_6376dup (p.Phe2126Ter)
|
rs1766397905
|
|
NM_001142800.2(EYS):c.637_643del (p.Glu213fs)
|
rs1285201633
|
|
NM_001142800.2(EYS):c.6381_6393del (p.Gln2127fs)
|
rs2150337928
|
|
NM_001142800.2(EYS):c.6404_6415del (p.Thr2135_Cys2139delinsSer)
|
|
|
NM_001142800.2(EYS):c.6469G>T (p.Glu2157Ter)
|
|
|
NM_001142800.2(EYS):c.6482_6483insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAGAACTGCCCTTTTT (p.Phe2160_Leu2161insPhePhePhePhePhePhePheXaaXaaXaaXaaProLysThrIleLysThrLeuGluGluAsnLeuGlyIleThrIleGlnAspIleGlyValGlyLysAspPheMetSerLysThrProLysAlaMetAlaThrGluLeuProPhe)
|
|
|
NM_001142800.2(EYS):c.6485dup (p.Phe2163fs)
|
|
|
NM_001142800.2(EYS):c.6501_6502del (p.Glu2168fs)
|
|
|
NM_001142800.2(EYS):c.6506del (p.His2169fs)
|
|
|
NM_001142800.2(EYS):c.6544_6547del (p.Asn2182fs)
|
rs1488052513
|
|
NM_001142800.2(EYS):c.6552_6553insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGTTTA (p.Asn2185delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
|
|
|
NM_001142800.2(EYS):c.6604_6608del (p.His2202fs)
|
|
|
NM_001142800.2(EYS):c.6637A>T (p.Lys2213Ter)
|
|
|
NM_001142800.2(EYS):c.6645del (p.Cys2216fs)
|
|
|
NM_001142800.2(EYS):c.6719_6720del (p.Thr2240fs)
|
rs2149855637
|
|
NM_001142800.2(EYS):c.6725+1G>A
|
rs779055763
|
|
NM_001142800.2(EYS):c.6729C>G (p.Tyr2243Ter)
|
|
|
NM_001142800.2(EYS):c.6745dup (p.Ser2249fs)
|
|
|
NM_001142800.2(EYS):c.6769G>T (p.Glu2257Ter)
|
rs2149802318
|
|
NM_001142800.2(EYS):c.6772dup (p.Met2258fs)
|
|
|
NM_001142800.2(EYS):c.6780del (p.Asp2261fs)
|
|
|
NM_001142800.2(EYS):c.6791dup (p.Pro2265fs)
|
rs1582105016
|
|
NM_001142800.2(EYS):c.6794del (p.Pro2265fs)
|
rs758109813
|
|
NM_001142800.2(EYS):c.6799C>T (p.Gln2267Ter)
|
|
|
NM_001142800.2(EYS):c.6799_6800del (p.Gln2267fs)
|
|
|
NM_001142800.2(EYS):c.67dup (p.Thr23fs)
|
rs1766217655
|
|
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs)
|
rs2149802267
|
|
NM_001142800.2(EYS):c.6816_6817del (p.Glu2272fs)
|
rs2149802264
|
|
NM_001142800.2(EYS):c.6842_6843del (p.Tyr2280_Phe2281insTer)
|
rs1767268980
|
|
NM_001142800.2(EYS):c.6880C>T (p.Gln2294Ter)
|
rs1767266871
|
|
NM_001142800.2(EYS):c.6920del (p.Gly2307fs)
|
|
|
NM_001142800.2(EYS):c.6922del (p.Cys2308fs)
|
|
|
NM_001142800.2(EYS):c.694del (p.Arg232fs)
|
|
|
NM_001142800.2(EYS):c.6952G>T (p.Glu2318Ter)
|
|
|
NM_001142800.2(EYS):c.697G>T (p.Glu233Ter)
|
rs866997713
|
|
NM_001142800.2(EYS):c.7013G>A (p.Trp2338Ter)
|
rs1231505438
|
|
NM_001142800.2(EYS):c.7016del (p.Cys2339fs)
|
rs2149792238
|
|
NM_001142800.2(EYS):c.7048del (p.Cys2350fs)
|
rs527236069
|
|
NM_001142800.2(EYS):c.7055+1G>A
|
rs1582079626
|
|
NM_001142800.2(EYS):c.7085del (p.Pro2362fs)
|
|
|
NM_001142800.2(EYS):c.712C>T (p.Gln238Ter)
|
rs1212010105
|
|
NM_001142800.2(EYS):c.7194C>A (p.Cys2398Ter)
|
rs2149709686
|
|
NM_001142800.2(EYS):c.7228_7228+1delinsTA
|
rs1772614934
|
|
NM_001142800.2(EYS):c.7243C>T (p.Gln2415Ter)
|
|
|
NM_001142800.2(EYS):c.7283C>A (p.Ser2428Ter)
|
rs2149678975
|
|
NM_001142800.2(EYS):c.7283C>G (p.Ser2428Ter)
|
rs2149678975
|
|
NM_001142800.2(EYS):c.7296T>A (p.Tyr2432Ter)
|
|
|
NM_001142800.2(EYS):c.730_733del (p.Cys244fs)
|
rs1766174156
|
|
NM_001142800.2(EYS):c.7326T>G (p.Tyr2442Ter)
|
rs1770906719
|
|
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter)
|
rs1562220891
|
|
NM_001142800.2(EYS):c.7361_7362dup (p.Ser2455fs)
|
|
|
NM_001142800.2(EYS):c.737del (p.Pro246fs)
|
rs2127270768
|
|
NM_001142800.2(EYS):c.7385dup (p.Phe2463fs)
|
|
|
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs)
|
rs1770904723
|
|
NM_001142800.2(EYS):c.7422_7423del (p.Gly2474_Asp2475insTer)
|
rs1554169630
|
|
NM_001142800.2(EYS):c.7430_7433del (p.Phe2477fs)
|
|
|
NM_001142800.2(EYS):c.7447dup (p.Leu2483fs)
|
|
|
NM_001142800.2(EYS):c.7460_7461del (p.Val2487fs)
|
|
|
NM_001142800.2(EYS):c.748G>T (p.Gly250Ter)
|
|
|
NM_001142800.2(EYS):c.7540_7541del (p.Val2514fs)
|
rs2149670871
|
|
NM_001142800.2(EYS):c.7550_7554del (p.Gly2517fs)
|
|
|
NM_001142800.2(EYS):c.7570del (p.Trp2524fs)
|
|
|
NM_001142800.2(EYS):c.7571G>A (p.Trp2524Ter)
|
rs2149670847
|
|
NM_001142800.2(EYS):c.7572G>A (p.Trp2524Ter)
|
rs902462590
|
|
NM_001142800.2(EYS):c.7583del (p.Asp2528fs)
|
|
|
NM_001142800.2(EYS):c.7597A>T (p.Lys2533Ter)
|
rs114512007
|
|
NM_001142800.2(EYS):c.7624del (p.Val2542fs)
|
|
|
NM_001142800.2(EYS):c.7645_7646del (p.Gln2549fs)
|
rs2149670368
|
|
NM_001142800.2(EYS):c.7696G>T (p.Gly2566Ter)
|
|
|
NM_001142800.2(EYS):c.7708A>T (p.Lys2570Ter)
|
|
|
NM_001142800.2(EYS):c.7723+1G>A
|
rs1770412895
|
|
NM_001142800.2(EYS):c.7723+2T>G
|
rs2149670301
|
|
NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs)
|
rs1431427428
|
|
NM_001142800.2(EYS):c.7746_7762del (p.Arg2583fs)
|
|
|
NM_001142800.2(EYS):c.775C>T (p.Gln259Ter)
|
|
|
NM_001142800.2(EYS):c.7798_7802del (p.Pro2600fs)
|
rs1770112191
|
|
NM_001142800.2(EYS):c.786dup (p.His263fs)
|
rs1766009155
|
|
NM_001142800.2(EYS):c.7888del (p.Thr2630fs)
|
rs2149664241
|
|
NM_001142800.2(EYS):c.7943_7944del (p.Thr2648fs)
|
rs1278985995
|
|
NM_001142800.2(EYS):c.7953del (p.Cys2652fs)
|
|
|
NM_001142800.2(EYS):c.7990A>T (p.Arg2664Ter)
|
|
|
NM_001142800.2(EYS):c.8008del (p.Ser2670fs)
|
|
|
NM_001142800.2(EYS):c.8015del (p.Pro2672fs)
|
|
|
NM_001142800.2(EYS):c.8031T>A (p.Cys2677Ter)
|
|
|
NM_001142800.2(EYS):c.803del (p.Gly268fs)
|
rs1766006937
|
|
NM_001142800.2(EYS):c.8098A>T (p.Arg2700Ter)
|
|
|
NM_001142800.2(EYS):c.8102del (p.Ser2701fs)
|
rs2149631907
|
|
NM_001142800.2(EYS):c.810C>A (p.Cys270Ter)
|
rs2127266443
|
|
NM_001142800.2(EYS):c.810del (p.Asn269_Cys270insTer)
|
|
|
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.8158_8159del (p.Ile2720fs)
|
rs2149631831
|
|
NM_001142800.2(EYS):c.8189dup (p.Asp2730fs)
|
rs2149631777
|
|
NM_001142800.2(EYS):c.8223del (p.Ala2742fs)
|
|
|
NM_001142800.2(EYS):c.8233+1del
|
rs1768621880
|
|
NM_001142800.2(EYS):c.910dup (p.Trp304fs)
|
rs34676630
|
|
NM_001142800.2(EYS):c.91G>T (p.Glu31Ter)
|
rs572189652
|
|
NM_001142800.2(EYS):c.942del (p.Ala315fs)
|
|
|
NM_001142800.2(EYS):c.962del (p.Pro321fs)
|
|
|
NM_001142800.2(EYS):c.975del (p.Ser326fs)
|
|
|
NM_001142800.2(EYS):c.984del (p.Asn328fs)
|
rs1766679809
|
|
NM_001142800.2(EYS):c.990_991del (p.Glu330fs)
|
rs1766679390
|
|