1 |
CEP290 |
NM_025114.4(CEP290):c.1066-1G>A |
SNV |
Pathogenic |
439474 |
rs965522059 |
12:88519147-88519147 |
12:88125370-88125370 |
2 |
CEP290 |
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) |
SNV |
Pathogenic |
530911 |
rs776645403 |
12:88519134-88519134 |
12:88125357-88125357 |
3 |
CEP290 |
NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter) |
SNV |
Pathogenic |
560436 |
rs1226324483 |
12:88476860-88476860 |
12:88083083-88083083 |
4 |
CEP290 |
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) |
SNV |
Pathogenic |
1333 |
rs137852832 |
12:88471040-88471040 |
12:88077263-88077263 |
5 |
CEP290 |
NM_025114.4(CEP290):c.2991+1655A>G |
SNV |
Pathogenic |
1337 |
rs281865192 |
12:88494960-88494960 |
12:88101183-88101183 |
6 |
CEP290 |
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter) |
SNV |
Pathogenic |
1338 |
rs137852833 |
12:88505097-88505097 |
12:88111320-88111320 |
7 |
CEP290 |
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) |
SNV |
Pathogenic |
1339 |
rs137852834 |
12:88477713-88477713 |
12:88083936-88083936 |
8 |
CEP290 |
CEP290, 4-BP DEL, 384TAGA |
deletion |
Pathogenic |
1340 |
|
|
|
9 |
CEP290 |
CEP290, 5-BP DEL, 1260TAAAG |
deletion |
Pathogenic |
1343 |
|
|
|
10 |
CEP290 |
NM_025114.4(CEP290):c.1711+1G>A |
SNV |
Pathogenic |
156377 |
rs587783009 |
12:88512259-88512259 |
12:88118482-88118482 |
11 |
CEP290 |
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs) |
deletion |
Pathogenic |
156378 |
rs587783010 |
12:88505097-88505098 |
12:88111320-88111321 |
12 |
CEP290 |
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) |
SNV |
Pathogenic |
156385 |
rs587783016 |
12:88482934-88482934 |
12:88089157-88089157 |
13 |
CEP290 |
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) |
duplication |
Pathogenic |
156386 |
rs587783017 |
12:88449443-88449444 |
12:88055666-88055667 |
14 |
CEP290 |
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) |
SNV |
Pathogenic |
217636 |
rs575767207 |
12:88472889-88472889 |
12:88079112-88079112 |
15 |
CEP290 |
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) |
SNV |
Pathogenic |
217635 |
rs376493409 |
12:88476938-88476938 |
12:88083161-88083161 |
16 |
CEP290 |
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) |
SNV |
Pathogenic |
217626 |
rs539400286 |
12:88479860-88479860 |
12:88086083-88086083 |
17 |
CEP290 |
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) |
SNV |
Pathogenic/Likely pathogenic |
523768 |
rs1170451277 |
12:88513984-88513984 |
12:88120207-88120207 |
18 |
CEP290 |
NM_025114.4(CEP290):c.732_733AG[1] (p.Glu245fs) |
short repeat |
Likely pathogenic |
804466 |
|
12:88523588-88523589 |
12:88129811-88129812 |
19 |
CEP290 |
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) |
SNV |
Likely pathogenic |
813995 |
|
12:88523494-88523494 |
12:88129717-88129717 |
20 |
CEP290 |
NM_025114.4(CEP290):c.297+1G>A |
SNV |
Likely pathogenic |
829993 |
|
12:88532921-88532921 |
12:88139144-88139144 |
21 |
CEP290 |
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter) |
SNV |
Likely pathogenic |
212730 |
rs797044604 |
12:88480227-88480227 |
12:88086450-88086450 |
22 |
CEP290 |
NM_025114.4(CEP290):c.1360-4T>G |
SNV |
Conflicting interpretations of pathogenicity |
379430 |
rs200328638 |
12:88514057-88514057 |
12:88120280-88120280 |
23 |
CEP290 |
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) |
SNV |
Conflicting interpretations of pathogenicity |
388113 |
rs201295052 |
12:88510905-88510905 |
12:88117128-88117128 |
24 |
CEP290 |
NM_025114.4(CEP290):c.503G>A (p.Arg168His) |
SNV |
Conflicting interpretations of pathogenicity |
310628 |
rs200063017 |
12:88524335-88524335 |
12:88130558-88130558 |
25 |
CEP290 |
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) |
SNV |
Conflicting interpretations of pathogenicity |
310600 |
rs377614744 |
12:88480177-88480177 |
12:88086400-88086400 |
26 |
CEP290 |
NM_025114.4(CEP290):c.1623+10G>T |
SNV |
Conflicting interpretations of pathogenicity |
310617 |
rs377529198 |
12:88512410-88512410 |
12:88118633-88118633 |
27 |
CEP290 |
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) |
SNV |
Conflicting interpretations of pathogenicity |
376782 |
rs202159966 |
12:88524191-88524191 |
12:88130414-88130414 |
28 |
CEP290 |
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) |
SNV |
Conflicting interpretations of pathogenicity |
96172 |
rs183655276 |
12:88480233-88480233 |
12:88086456-88086456 |
29 |
CEP290 |
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) |
SNV |
Conflicting interpretations of pathogenicity |
136729 |
rs150138016 |
12:88484613-88484613 |
12:88090836-88090836 |
30 |
CEP290 |
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) |
SNV |
Conflicting interpretations of pathogenicity |
695268 |
|
12:88505598-88505598 |
12:88111821-88111821 |
31 |
CEP290 |
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) |
SNV |
Conflicting interpretations of pathogenicity |
700299 |
|
12:88471639-88471639 |
12:88077862-88077862 |
32 |
CEP290 |
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) |
SNV |
Conflicting interpretations of pathogenicity |
701271 |
|
12:88474058-88474058 |
12:88080281-88080281 |
33 |
CEP290 |
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) |
SNV |
Conflicting interpretations of pathogenicity |
700166 |
|
12:88496733-88496733 |
12:88102956-88102956 |
34 |
CEP290 |
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) |
SNV |
Conflicting interpretations of pathogenicity |
697728 |
|
12:88500631-88500631 |
12:88106854-88106854 |
35 |
CEP290 |
NM_025114.4(CEP290):c.6358-5C>T |
SNV |
Conflicting interpretations of pathogenicity |
739559 |
|
12:88454776-88454776 |
12:88060999-88060999 |
36 |
CEP290 |
NM_025114.4(CEP290):c.4438-3del |
deletion |
Conflicting interpretations of pathogenicity |
449448 |
rs747323414 |
12:88478632-88478632 |
12:88084855-88084855 |
37 |
CEP290 |
NM_025114.4(CEP290):c.384T>C (p.Asp128=) |
SNV |
Conflicting interpretations of pathogenicity |
461782 |
rs76267039 |
12:88530477-88530477 |
12:88136700-88136700 |
38 |
CEP290 |
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) |
SNV |
Conflicting interpretations of pathogenicity |
143156 |
rs77778467 |
12:88452656-88452656 |
12:88058879-88058879 |
39 |
CEP290 |
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) |
SNV |
Conflicting interpretations of pathogenicity |
196714 |
rs201838492 |
12:88483184-88483184 |
12:88089407-88089407 |
40 |
CEP290 |
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) |
SNV |
Conflicting interpretations of pathogenicity |
166841 |
rs373913704 |
12:88533296-88533296 |
12:88139519-88139519 |
41 |
CEP290 |
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) |
SNV |
Conflicting interpretations of pathogenicity |
166838 |
rs188164241 |
12:88519133-88519133 |
12:88125356-88125356 |
42 |
CEP290 |
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) |
SNV |
Conflicting interpretations of pathogenicity |
166829 |
rs117852025 |
12:88454728-88454728 |
12:88060951-88060951 |
43 |
CEP290 |
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) |
SNV |
Conflicting interpretations of pathogenicity |
166834 |
rs73192874 |
12:88474130-88474130 |
12:88080353-88080353 |
44 |
CEP290 |
NM_025114.4(CEP290):c.1522+6C>T |
SNV |
Conflicting interpretations of pathogenicity |
194563 |
rs148446546 |
12:88513885-88513885 |
12:88120108-88120108 |
45 |
CEP290 |
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) |
SNV |
Conflicting interpretations of pathogenicity |
195989 |
rs182369459 |
12:88496626-88496626 |
12:88102849-88102849 |
46 |
CEP290 |
NM_025114.4(CEP290):c.251-11T>A |
SNV |
Conflicting interpretations of pathogenicity |
235736 |
rs200666995 |
12:88532979-88532979 |
12:88139202-88139202 |
47 |
CEP290 |
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) |
SNV |
Conflicting interpretations of pathogenicity |
241587 |
rs572443869 |
12:88449443-88449443 |
12:88055666-88055666 |
48 |
CEP290 |
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) |
SNV |
Conflicting interpretations of pathogenicity |
281250 |
rs201988582 |
12:88519120-88519120 |
12:88125343-88125343 |
49 |
CEP290 |
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) |
SNV |
Conflicting interpretations of pathogenicity |
282379 |
rs181248369 |
12:88478591-88478591 |
12:88084814-88084814 |
50 |
CEP290 |
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) |
SNV |
Conflicting interpretations of pathogenicity |
283803 |
rs192259143 |
12:88462318-88462318 |
12:88068541-88068541 |