1 |
LCA5 and overlap with 1 gene(s) |
NM_181714.4(LCA5):c.0_-298+211del |
DEL |
Pathogenic
|
969 |
|
GRCh37: 6:80246622-80248219 GRCh38: 6:79536905-79538502 |
2 |
LCA5 |
NM_001122769.3(LCA5):c.1062_1068del (p.Cys353_Tyr354insTer) |
DEL |
Pathogenic
|
810630 |
rs1769845495 |
GRCh37: 6:80201335-80201341 GRCh38: 6:79491618-79491624 |
3 |
LCA5 |
NM_001122769.3(LCA5):c.93del (p.Gln31fs) |
DEL |
Pathogenic
|
978436 |
rs1766528592 |
GRCh37: 6:80228519-80228519 GRCh38: 6:79518802-79518802 |
4 |
LCA5 |
NM_001122769.3(LCA5):c.1062C>A (p.Tyr354Ter) |
SNV |
Pathogenic
|
1323232 |
|
GRCh37: 6:80201341-80201341 GRCh38: 6:79491624-79491624 |
5 |
LCA5 |
NM_001122769.3(LCA5):c.527_529del (p.Arg176del) |
DEL |
Pathogenic
|
978438 |
rs1766311895 |
GRCh37: 6:80223120-80223122 GRCh38: 6:79513403-79513405 |
6 |
LCA5 |
NM_001122769.3(LCA5):c.535_536insT (p.Gln179fs) |
INSERT |
Pathogenic
|
978439 |
rs1766311263 |
GRCh37: 6:80223113-80223114 GRCh38: 6:79513396-79513397 |
7 |
LCA5 |
NM_001122769.3(LCA5):c.610C>T (p.Gln204Ter) |
SNV |
Pathogenic
|
978440 |
rs1766298401 |
GRCh37: 6:80223039-80223039 GRCh38: 6:79513322-79513322 |
8 |
LCA5 |
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs) |
DEL |
Pathogenic
|
978441 |
rs1769904494 |
GRCh37: 6:80203438-80203444 GRCh38: 6:79493721-79493727 |
9 |
LCA5 |
NM_001122769.3(LCA5):c.858+1G>C |
SNV |
Pathogenic
|
978442 |
rs753594556 |
GRCh37: 6:80203329-80203329 GRCh38: 6:79493612-79493612 |
10 |
LCA5 |
NM_001122769.3(LCA5):c.1186G>T (p.Glu396Ter) |
SNV |
Pathogenic
|
978443 |
rs1769761816 |
GRCh37: 6:80198846-80198846 GRCh38: 6:79489129-79489129 |
11 |
LCA5 |
NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter) |
SNV |
Pathogenic
|
978444 |
rs1769706250 |
GRCh37: 6:80197329-80197329 GRCh38: 6:79487612-79487612 |
12 |
LCA5 |
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) |
SNV |
Pathogenic
|
438153 |
rs866395428 |
GRCh37: 6:80203350-80203350 GRCh38: 6:79493633-79493633 |
13 |
LCA5 |
NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter) |
SNV |
Pathogenic
|
641484 |
rs1268307330 |
GRCh37: 6:80197572-80197572 GRCh38: 6:79487855-79487855 |
14 |
LCA5 |
NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter) |
SNV |
Pathogenic
|
960517 |
rs151017794 |
GRCh37: 6:80203425-80203425 GRCh38: 6:79493708-79493708 |
15 |
LCA5 |
NM_001122769.3(LCA5):c.1368dup (p.Glu457fs) |
DUP |
Pathogenic
|
1172715 |
|
GRCh37: 6:80197446-80197447 GRCh38: 6:79487729-79487730 |
16 |
LCA5 |
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) |
SNV |
Pathogenic
|
968 |
rs121918165 |
GRCh37: 6:80203353-80203353 GRCh38: 6:79493636-79493636 |
17 |
LCA5 |
NM_001122769.3(LCA5):c.1151del (p.Pro384fs) |
DEL |
Pathogenic
|
966 |
rs386834252 |
GRCh37: 6:80198881-80198881 GRCh38: 6:79489164-79489164 |
18 |
LCA5 |
NM_001122769.3(LCA5):c.1476dup (p.Pro493fs) |
DUP |
Pathogenic
|
967 |
rs386834253 |
GRCh37: 6:80197338-80197339 GRCh38: 6:79487621-79487622 |
19 |
LCA5 |
NM_001122769.3(LCA5):c.574dup (p.Thr192fs) |
DUP |
Pathogenic
|
374516 |
rs1057519136 |
GRCh37: 6:80223074-80223075 GRCh38: 6:79513357-79513358 |
20 |
LCA5 |
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter) |
SNV |
Likely Pathogenic
|
844114 |
rs748370008 |
GRCh37: 6:80228509-80228509 GRCh38: 6:79518792-79518792 |
21 |
LCA5 |
NM_001122769.3(LCA5):c.1756A>T (p.Lys586Ter) |
SNV |
Likely Pathogenic
|
961285 |
rs772573829 |
GRCh37: 6:80197059-80197059 GRCh38: 6:79487342-79487342 |
22 |
LCA5 |
NM_001122769.3(LCA5):c.859-2A>G |
SNV |
Likely Pathogenic
|
1067727 |
|
GRCh37: 6:80202366-80202366 GRCh38: 6:79492649-79492649 |
23 |
LCA5 |
NM_001122769.3(LCA5):c.1545dup (p.Glu516fs) |
DUP |
Likely Pathogenic
|
978445 |
rs1769703329 |
GRCh37: 6:80197269-80197270 GRCh38: 6:79487552-79487553 |
24 |
LCA5 |
NM_001122769.3(LCA5):c.395A>G (p.Glu132Gly) |
SNV |
Likely Pathogenic
|
978437 |
rs1766318937 |
GRCh37: 6:80223254-80223254 GRCh38: 6:79513537-79513537 |
25 |
LCA5 |
NM_001122769.3(LCA5):c.*1385T>C |
SNV |
Uncertain Significance
|
911094 |
rs553148047 |
GRCh37: 6:80195336-80195336 GRCh38: 6:79485619-79485619 |
26 |
LCA5 |
NM_001122769.3(LCA5):c.*1326A>G |
SNV |
Uncertain Significance
|
911095 |
rs568376970 |
GRCh37: 6:80195395-80195395 GRCh38: 6:79485678-79485678 |
27 |
LCA5 |
NM_001122769.3(LCA5):c.*1002A>G |
SNV |
Uncertain Significance
|
908317 |
rs930745321 |
GRCh37: 6:80195719-80195719 GRCh38: 6:79486002-79486002 |
28 |
LCA5 |
NM_001122769.3(LCA5):c.*958G>A |
SNV |
Uncertain Significance
|
908318 |
rs188791703 |
GRCh37: 6:80195763-80195763 GRCh38: 6:79486046-79486046 |
29 |
LCA5 |
NM_001122769.3(LCA5):c.*892A>G |
SNV |
Uncertain Significance
|
908319 |
rs139670091 |
GRCh37: 6:80195829-80195829 GRCh38: 6:79486112-79486112 |
30 |
LCA5 |
NM_001122769.3(LCA5):c.*838C>G |
SNV |
Uncertain Significance
|
908320 |
rs1341159813 |
GRCh37: 6:80195883-80195883 GRCh38: 6:79486166-79486166 |
31 |
LCA5 |
NM_001122769.3(LCA5):c.-191-6065C>A |
SNV |
Uncertain Significance
|
908457 |
rs79765454 |
GRCh37: 6:80234867-80234867 GRCh38: 6:79525150-79525150 |
32 |
LCA5 |
NM_001122769.3(LCA5):c.*763A>G |
SNV |
Uncertain Significance
|
909162 |
rs1769649594 |
GRCh37: 6:80195958-80195958 GRCh38: 6:79486241-79486241 |
33 |
LCA5 |
NM_001122769.3(LCA5):c.*719A>G |
SNV |
Uncertain Significance
|
909163 |
rs2292108 |
GRCh37: 6:80196002-80196002 GRCh38: 6:79486285-79486285 |
34 |
LCA5 |
NM_001122769.3(LCA5):c.*628T>G |
SNV |
Uncertain Significance
|
909164 |
rs1211696258 |
GRCh37: 6:80196093-80196093 GRCh38: 6:79486376-79486376 |
35 |
LCA5 |
NM_001122769.3(LCA5):c.*617T>C |
SNV |
Uncertain Significance
|
909165 |
rs573627037 |
GRCh37: 6:80196104-80196104 GRCh38: 6:79486387-79486387 |
36 |
LCA5 |
NM_001122769.3(LCA5):c.*497G>A |
SNV |
Uncertain Significance
|
909166 |
rs114346256 |
GRCh37: 6:80196224-80196224 GRCh38: 6:79486507-79486507 |
37 |
LCA5 |
NM_001122769.3(LCA5):c.-398G>T |
SNV |
Uncertain Significance
|
909299 |
rs370115829 |
GRCh37: 6:80247088-80247088 GRCh38: 6:79537371-79537371 |
38 |
LCA5 |
NM_001122769.3(LCA5):c.-400G>T |
SNV |
Uncertain Significance
|
909300 |
rs1194453509 |
GRCh37: 6:80247090-80247090 GRCh38: 6:79537373-79537373 |
39 |
LCA5 |
NM_001122769.3(LCA5):c.*1851A>G |
SNV |
Uncertain Significance
|
910196 |
rs1769610596 |
GRCh37: 6:80194870-80194870 GRCh38: 6:79485153-79485153 |
40 |
LCA5 |
NM_001122769.3(LCA5):c.*1777T>A |
SNV |
Uncertain Significance
|
910197 |
rs58717513 |
GRCh37: 6:80194944-80194944 GRCh38: 6:79485227-79485227 |
41 |
LCA5 |
NM_001122769.3(LCA5):c.*1261A>G |
SNV |
Uncertain Significance
|
911097 |
rs1769633494 |
GRCh37: 6:80195460-80195460 GRCh38: 6:79485743-79485743 |
42 |
LCA5 |
NM_001122769.3(LCA5):c.*464C>T |
SNV |
Uncertain Significance
|
911161 |
rs955948481 |
GRCh37: 6:80196257-80196257 GRCh38: 6:79486540-79486540 |
43 |
LCA5 |
NM_001122769.3(LCA5):c.*344T>C |
SNV |
Uncertain Significance
|
911162 |
rs571100363 |
GRCh37: 6:80196377-80196377 GRCh38: 6:79486660-79486660 |
44 |
LCA5 |
NM_001122769.3(LCA5):c.*91A>G |
SNV |
Uncertain Significance
|
911163 |
rs904422663 |
GRCh37: 6:80196630-80196630 GRCh38: 6:79486913-79486913 |
45 |
LCA5 |
NM_001122769.3(LCA5):c.*29G>T |
SNV |
Uncertain Significance
|
911164 |
rs534130467 |
GRCh37: 6:80196692-80196692 GRCh38: 6:79486975-79486975 |
46 |
LCA5 |
NM_001122769.3(LCA5):c.2033A>C (p.Lys678Thr) |
SNV |
Uncertain Significance
|
911165 |
rs1769680029 |
GRCh37: 6:80196782-80196782 GRCh38: 6:79487065-79487065 |
47 |
LCA5 |
NM_001122769.3(LCA5):c.650A>C (p.Glu217Ala) |
SNV |
Uncertain Significance
|
911231 |
rs371429608 |
GRCh37: 6:80222999-80222999 GRCh38: 6:79513282-79513282 |
48 |
LCA5 |
NM_001122769.3(LCA5):c.488G>A (p.Arg163His) |
SNV |
Uncertain Significance
|
911232 |
rs189168054 |
GRCh37: 6:80223161-80223161 GRCh38: 6:79513444-79513444 |
49 |
LCA5 |
NM_001122769.3(LCA5):c.*1234A>C |
SNV |
Uncertain Significance
|
911300 |
rs1028375075 |
GRCh37: 6:80195487-80195487 GRCh38: 6:79485770-79485770 |
50 |
LCA5 |
NM_001122769.3(LCA5):c.*1232T>G |
SNV |
Uncertain Significance
|
911301 |
rs1278278130 |
GRCh37: 6:80195489-80195489 GRCh38: 6:79485772-79485772 |