1 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter) |
SNV |
Pathogenic
|
4983 |
rs137853124 |
GRCh37: 14:21762944-21762944 GRCh38: 14:21294785-21294785 |
2 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.1892A>T (p.His631Leu) |
SNV |
Pathogenic
|
156380 |
rs535922252 |
GRCh37: 14:21792906-21792906 GRCh38: 14:21324747-21324747 |
3 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2356C>T (p.Gln786Ter) |
SNV |
Pathogenic
|
156388 |
rs587783019 |
GRCh37: 14:21793531-21793531 GRCh38: 14:21325372-21325372 |
4 |
RPGRIP1 |
NC_000014.9:g.(?_21317696)_(21320177_?)del |
DEL |
Pathogenic
|
832960 |
|
GRCh37: 14:21785855-21788336 GRCh38: |
5 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg) |
SNV |
Pathogenic
Pathogenic
|
834237 |
rs535922252 |
GRCh37: 14:21792906-21792906 GRCh38: 14:21324747-21324747 |
6 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.801-25_843del |
DEL |
Pathogenic
|
587394 |
rs1566674809 |
GRCh37: 14:21775863-21775930 GRCh38: 14:21307704-21307771 |
7 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.1468-263G>C |
SNV |
Pathogenic
|
814006 |
rs1594202505 |
GRCh37: 14:21789155-21789155 GRCh38: 14:21320996-21320996 |
8 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.3238+1G>A |
SNV |
Pathogenic
|
814008 |
rs1325103400 |
GRCh37: 14:21798547-21798547 GRCh38: 14:21330388-21330388 |
9 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.895_896del (p.Glu299fs) |
DEL |
Pathogenic
|
814018 |
rs1594180177 |
GRCh37: 14:21775983-21775984 GRCh38: 14:21307824-21307825 |
10 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter) |
SNV |
Pathogenic
|
236506 |
rs878853392 |
GRCh37: 14:21786006-21786006 GRCh38: 14:21317847-21317847 |
11 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.511del (p.Tyr171fs) |
DEL |
Pathogenic
|
99825 |
rs61751265 |
GRCh37: 14:21770667-21770667 GRCh38: 14:21302508-21302508 |
12 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2876del (p.Lys959fs) |
DEL |
Pathogenic
|
191284 |
rs786205623 |
GRCh37: 14:21795944-21795944 GRCh38: 14:21327785-21327785 |
13 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.3339+2477_3533-151del |
DEL |
Pathogenic
|
981633 |
|
GRCh37: 14:21805341-21813121 GRCh38: 14:21337182-21344962 |
14 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2895+1G>T |
SNV |
Pathogenic
Pathogenic
|
981634 |
rs748072501 |
GRCh37: 14:21795967-21795967 GRCh38: 14:21327808-21327808 |
15 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2895+1G>A |
SNV |
Pathogenic
|
981635 |
rs748072501 |
GRCh37: 14:21795967-21795967 GRCh38: 14:21327808-21327808 |
16 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2710+1G>A |
SNV |
Pathogenic
|
981636 |
rs1883084009 |
GRCh37: 14:21794333-21794333 GRCh38: 14:21326174-21326174 |
17 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.1133dup (p.Tyr378Ter) |
DUP |
Pathogenic
|
981639 |
rs1391335025 |
GRCh37: 14:21780646-21780647 GRCh38: 14:21312487-21312488 |
18 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.1687C>T (p.Arg563Ter) |
SNV |
Pathogenic
|
981641 |
rs776963292 |
GRCh37: 14:21790088-21790088 GRCh38: 14:21321929-21321929 |
19 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2086G>T (p.Glu696Ter) |
SNV |
Pathogenic
|
981642 |
rs1882904268 |
GRCh37: 14:21793100-21793100 GRCh38: 14:21324941-21324941 |
20 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2239del (p.Val747fs) |
DEL |
Pathogenic
|
981643 |
rs1882946937 |
GRCh37: 14:21793411-21793411 GRCh38: 14:21325252-21325252 |
21 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2567_2568dup (p.Val857fs) |
DUP |
Pathogenic
|
523527 |
rs1555302200 |
GRCh37: 14:21794188-21794189 GRCh38: 14:21326029-21326030 |
22 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2890del (p.Ser964fs) |
DEL |
Pathogenic
|
438162 |
rs1555302710 |
GRCh37: 14:21795960-21795960 GRCh38: 14:21327801-21327801 |
23 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.3239-1_3241del |
DEL |
Pathogenic
|
981645 |
rs1884133804 |
GRCh37: 14:21802761-21802764 GRCh38: 14:21334602-21334605 |
24 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.3427del (p.Tyr1143fs) |
DEL |
Pathogenic
|
981646 |
rs1885186332 |
GRCh37: 14:21811282-21811282 GRCh38: 14:21343123-21343123 |
25 |
RPGRIP1 |
NC_000014.8:g.(?_21798388)_(21798566_?)del |
DEL |
Pathogenic
|
1073082 |
|
GRCh37: 14:21798388-21798566 GRCh38: |
26 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) |
SNV |
Pathogenic
Pathogenic
|
95949 |
rs398124354 |
GRCh37: 14:21795846-21795846 GRCh38: 14:21327687-21327687 |
27 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs) |
DEL |
Pathogenic
|
865870 |
rs1739469293 |
GRCh37: 14:21794063-21794063 GRCh38: 14:21325904-21325904 |
28 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.663dup (p.Asn222Ter) |
DUP |
Pathogenic
|
1357904 |
|
GRCh37: 14:21771564-21771565 GRCh38: 14:21303405-21303406 |
29 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter) |
SNV |
Pathogenic
|
812426 |
rs1371805993 |
GRCh37: 14:21796622-21796622 GRCh38: 14:21328463-21328463 |
30 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.1867C>T (p.Gln623Ter) |
SNV |
Pathogenic
|
1387428 |
|
GRCh37: 14:21792881-21792881 GRCh38: 14:21324722-21324722 |
31 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2024del (p.Leu675fs) |
DEL |
Pathogenic
|
1369938 |
|
GRCh37: 14:21793038-21793038 GRCh38: 14:21324879-21324879 |
32 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2308_2311del (p.Lys770fs) |
MICROSAT |
Pathogenic
|
1395639 |
|
GRCh37: 14:21793478-21793481 GRCh38: 14:21325319-21325322 |
33 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.1145T>A (p.Leu382Ter) |
SNV |
Pathogenic
|
1382627 |
|
GRCh37: 14:21780659-21780659 GRCh38: 14:21312500-21312500 |
34 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.3617+1G>T |
SNV |
Pathogenic
|
1436742 |
|
GRCh37: 14:21813357-21813357 GRCh38: 14:21345198-21345198 |
35 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.3275_3276dup (p.Ala1093fs) |
DUP |
Pathogenic
|
1437865 |
|
GRCh37: 14:21802799-21802800 GRCh38: 14:21334640-21334641 |
36 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.1930C>T (p.Gln644Ter) |
SNV |
Pathogenic
|
1455614 |
|
GRCh37: 14:21792944-21792944 GRCh38: 14:21324785-21324785 |
37 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.282_283dup (p.Ala95fs) |
DUP |
Pathogenic
|
1459285 |
|
GRCh37: 14:21769187-21769188 GRCh38: 14:21301028-21301029 |
38 |
RPGRIP1 |
NC_000014.8:g.(?_21756136)_(21756240_?)del |
DEL |
Pathogenic
|
1459438 |
|
GRCh37: 14:21756136-21756240 GRCh38: |
39 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.767C>G (p.Ser256Ter) |
SNV |
Pathogenic
|
1455333 |
|
GRCh37: 14:21771669-21771669 GRCh38: 14:21303510-21303510 |
40 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.1995T>A (p.Cys665Ter) |
SNV |
Pathogenic
|
1452635 |
|
GRCh37: 14:21793009-21793009 GRCh38: 14:21324850-21324850 |
41 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.898del (p.Val300fs) |
DEL |
Pathogenic
|
1451134 |
|
GRCh37: 14:21775987-21775987 GRCh38: 14:21307828-21307828 |
42 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.808_826del (p.Ser269_Ile270insTer) |
DEL |
Pathogenic
|
1451517 |
|
GRCh37: 14:21775896-21775914 GRCh38: 14:21307737-21307755 |
43 |
RPGRIP1 |
NC_000014.8:g.(?_21785835)_(21788356_?)del |
DEL |
Pathogenic
|
1456668 |
|
GRCh37: 14:21785835-21788356 GRCh38: |
44 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.3610C>T (p.Gln1204Ter) |
SNV |
Pathogenic
|
1452857 |
|
GRCh37: 14:21813349-21813349 GRCh38: 14:21345190-21345190 |
45 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs) |
DUP |
Pathogenic
Pathogenic
|
857229 |
rs745741473 |
GRCh37: 14:21794086-21794087 GRCh38: 14:21325927-21325928 |
46 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.2781del (p.Tyr929fs) |
DEL |
Pathogenic
|
942879 |
rs1883254940 |
GRCh37: 14:21795850-21795850 GRCh38: 14:21327691-21327691 |
47 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.521del (p.Pro174fs) |
DEL |
Pathogenic
|
963824 |
rs1881077003 |
GRCh37: 14:21770674-21770674 GRCh38: 14:21302515-21302515 |
48 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter) |
SNV |
Pathogenic
Pathogenic
|
156387 |
rs587783018 |
GRCh37: 14:21775921-21775921 GRCh38: 14:21307762-21307762 |
49 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) |
SNV |
Pathogenic
Likely Pathogenic
|
489168 |
rs775935766 |
GRCh37: 14:21792806-21792806 GRCh38: 14:21324647-21324647 |
50 |
RPGRIP1 |
NM_020366.4(RPGRIP1):c.3487dup (p.Arg1163fs) |
DUP |
Pathogenic
|
964527 |
rs1885194108 |
GRCh37: 14:21811340-21811341 GRCh38: 14:21343181-21343182 |