NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
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.3443+1G>T
|
rs373441420
|
0.00022
|
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.6473T>C (p.Leu2158Pro)
|
rs777735735
|
0.00005
|
NM_001142800.2(EYS):c.3878-2A>G
|
rs752930400
|
0.00004
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr)
|
rs770111708
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
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.32dup (p.Met12fs)
|
rs779372264
|
0.00002
|
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)
|
rs919157306
|
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.3164+1G>A
|
rs1029564423
|
0.00001
|
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)
|
rs930421180
|
0.00001
|
NM_001142800.2(EYS):c.6571+1G>A
|
rs1193854376
|
0.00001
|
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)
|
rs527236076
|
0.00001
|
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)
|
rs1250317776
|
0.00001
|
NC_000006.11:g.(64574252_64694275)_(64791896_64940484)dup
|
|
|
NC_000006.11:g.(65612394_65622376)_(65767621_66005755)del
|
|
|
NC_000006.11:g.(65707597_65767506)_(65767621_66005755)del
|
|
|
NC_000006.11:g.(66094394_66112370)_(66115261_66200486)del
|
|
|
NC_000006.11:g.(66115261_66200486)_(66205887_66349670)del
|
|
|
NC_000006.11:g.65133931_65156120dup
|
|
|
NM_001142800.1(EYS):c.(2641+1_2642-1)_(2846+1_2847-1)del
|
|
|
NM_001142800.1:c.(2137+1_2138-1)_(2259+1_2260-1)dup
|
|
|
NM_001142800.2(EYS):c.113C>A (p.Ser38Ter)
|
rs1288767318
|
|
NM_001142800.2(EYS):c.1193C>G (p.Ser398Ter)
|
rs866804139
|
|
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1345A>T (p.Lys449Ter)
|
rs527236077
|
|
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter)
|
rs527236072
|
|
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)
|
rs549456693
|
|
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)
|
rs794727120
|
|
NM_001142800.2(EYS):c.2275_2276del (p.Cys759fs)
|
rs758506938
|
|
NM_001142800.2(EYS):c.350del (p.Asn117fs)
|
rs1582376609
|
|
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter)
|
rs1291867456
|
|
NM_001142800.2(EYS):c.4100C>A (p.Ser1367Ter)
|
|
|
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)
|
rs761238771
|
|
NM_001142800.2(EYS):c.4387del (p.Arg1463fs)
|
rs527236075
|
|
NM_001142800.2(EYS):c.4395_4402dup (p.Asp1468fs)
|
rs527236073
|
|
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)
|
rs527236065
|
|
NM_001142800.2(EYS):c.5014C>T (p.Gln1672Ter)
|
rs527236074
|
|
NM_001142800.2(EYS):c.5202_5203del (p.Phe1735fs)
|
rs527236071
|
|
NM_001142800.2(EYS):c.525_527del (p.Glu176del)
|
rs780433094
|
|
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs)
|
rs761760327
|
|
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer)
|
rs1554183440
|
|
NM_001142800.2(EYS):c.5408C>G (p.Ser1803Ter)
|
rs1554183432
|
|
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.5928-3_5928-1del
|
rs1554152094
|
|
NM_001142800.2(EYS):c.6191+2T>C
|
rs1769469813
|
|
NM_001142800.2(EYS):c.6502G>T (p.Glu2168Ter)
|
rs1554204963
|
|
NM_001142800.2(EYS):c.6545del (p.Asn2182fs)
|
rs1346842287
|
|
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs)
|
rs2149802267
|
|
NM_001142800.2(EYS):c.6937C>T (p.Gln2313Ter)
|
rs1554194404
|
|
NM_001142800.2(EYS):c.7048del (p.Cys2350fs)
|
rs527236069
|
|
NM_001142800.2(EYS):c.7055+1G>A
|
rs1582079626
|
|
NM_001142800.2(EYS):c.7228G>A (p.Ala2410Thr)
|
|
|
NM_001142800.2(EYS):c.7412-1G>C
|
rs1167742176
|
|
NM_001142800.2(EYS):c.749-1G>C
|
rs368159852
|
|
NM_001142800.2(EYS):c.7694del (p.Asn2565fs)
|
rs527236078
|
|
NM_001142800.2(EYS):c.873T>A (p.Cys291Ter)
|
rs777482895
|
|
NM_001142800.2:c.6425-7585_7056-7439dup
|
|
|
Single allele
|
|
|