NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)
|
rs143994166
|
0.00064
|
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)
|
rs752683070
|
0.00007
|
NM_001142800.2(EYS):c.35T>C (p.Met12Thr)
|
rs755947942
|
0.00006
|
NM_001142800.2(EYS):c.220del (p.Val74fs)
|
rs1375767063
|
0.00004
|
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)
|
rs374714909
|
0.00004
|
NM_001142800.2(EYS):c.967G>T (p.Gly323Ter)
|
rs746499646
|
0.00004
|
NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu)
|
rs1435861529
|
0.00003
|
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)
|
rs779983752
|
0.00003
|
NM_001142800.2(EYS):c.1982T>A (p.Leu661Ter)
|
rs1295206142
|
0.00001
|
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)
|
rs878853349
|
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.4199C>A (p.Ser1400Ter)
|
rs1245304444
|
0.00001
|
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter)
|
rs909730457
|
0.00001
|
NM_001142800.2(EYS):c.7578+1G>A
|
rs1228475082
|
0.00001
|
NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter)
|
rs1197863938
|
0.00001
|
NM_001142800.1(EYS):c.(2259+1_2260-1)_(2381+1_?)del
|
|
|
NM_001142800.2(EYS):c.1068C>A (p.Cys356Ter)
|
rs1766556883
|
|
NM_001142800.2(EYS):c.116_117del (p.Tyr39fs)
|
|
|
NM_001142800.2(EYS):c.1207A>T (p.Lys403Ter)
|
rs1765728504
|
|
NM_001142800.2(EYS):c.1211del (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1222del (p.Ala408fs)
|
rs1765727233
|
|
NM_001142800.2(EYS):c.1485G>C (p.Gly495=)
|
|
|
NM_001142800.2(EYS):c.1784_1787del (p.Ser595fs)
|
rs1768657480
|
|
NM_001142800.2(EYS):c.1871C>A (p.Ser624Ter)
|
rs548565748
|
|
NM_001142800.2(EYS):c.216del (p.Ala73fs)
|
rs1459031771
|
|
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)
|
rs794727120
|
|
NM_001142800.2(EYS):c.2359del (p.Thr787fs)
|
|
|
NM_001142800.2(EYS):c.2381+1G>A
|
rs1769267226
|
|
NM_001142800.2(EYS):c.2399G>T (p.Gly800Val)
|
|
|
NM_001142800.2(EYS):c.2652dup (p.Lys885Ter)
|
rs1767699695
|
|
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter)
|
rs1554214453
|
|
NM_001142800.2(EYS):c.3227_3243+1del
|
|
|
NM_001142800.2(EYS):c.3349del (p.Ser1117fs)
|
|
|
NM_001142800.2(EYS):c.3549T>G (p.Tyr1183Ter)
|
rs1767601715
|
|
NM_001142800.2(EYS):c.3568+1G>A
|
rs1767600988
|
|
NM_001142800.2(EYS):c.3581_3582del (p.His1194fs)
|
rs1767312015
|
|
NM_001142800.2(EYS):c.3595G>T (p.Glu1199Ter)
|
|
|
NM_001142800.2(EYS):c.3684G>C (p.Met1228Ile)
|
|
|
NM_001142800.2(EYS):c.3736_3737del (p.Leu1246fs)
|
|
|
NM_001142800.2(EYS):c.4011_4012del (p.His1337fs)
|
rs2149832523
|
|
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)
|
rs750840208
|
|
NM_001142800.2(EYS):c.4518del (p.Ile1507fs)
|
rs1766404452
|
|
NM_001142800.2(EYS):c.4859C>G (p.Ser1620Ter)
|
|
|
NM_001142800.2(EYS):c.4993_4994delinsA (p.Cys1665fs)
|
rs1766383947
|
|
NM_001142800.2(EYS):c.5157dup (p.Glu1720fs)
|
|
|
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer)
|
rs1554183440
|
|
NM_001142800.2(EYS):c.5836-1G>C
|
rs2150463984
|
|
NM_001142800.2(EYS):c.5847C>A (p.Tyr1949Ter)
|
rs1774743530
|
|
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter)
|
rs878853350
|
|
NM_001142800.2(EYS):c.6191+2T>C
|
rs1769469813
|
|
NM_001142800.2(EYS):c.6726-2973_6834+548del
|
|
|
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs)
|
rs1770904723
|
|
NM_001142800.2(EYS):c.749-1G>C
|
rs368159852
|
|
NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs)
|
rs1431427428
|
|
NM_001142800.2(EYS):c.7807G>T (p.Gly2603Ter)
|
|
|
NM_001142800.2(EYS):c.7836_7837del (p.Pro2613fs)
|
|
|
NM_001142800.2(EYS):c.786dup (p.His263fs)
|
rs1766009155
|
|
NM_001142800.2(EYS):c.7902dup (p.Asn2635fs)
|
|
|
NM_001142800.2(EYS):c.803del (p.Gly268fs)
|
rs1766006937
|
|
NM_001142800.2(EYS):c.8233+1G>C
|
rs1768621810
|
|