1 |
CRB1 |
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg) |
SNV |
Pathogenic
|
5734 |
rs62635659 |
GRCh37: 1:197404292-197404292 GRCh38: 1:197435162-197435162 |
2 |
CRB1 |
NM_201253.3(CRB1):c.3997G>T (p.Glu1333Ter) |
SNV |
Pathogenic
|
5735 |
rs137853136 |
GRCh37: 1:197411414-197411414 GRCh38: 1:197442284-197442284 |
3 |
CRB1 |
NM_201253.3(CRB1):c.998G>A (p.Gly333Asp) |
SNV |
Pathogenic
|
156384 |
rs587783015 |
GRCh37: 1:197325970-197325970 GRCh38: 1:197356840-197356840 |
4 |
CRB1 |
NC_000001.11:g.(?_197268413)_(197357013_?)del |
DEL |
Pathogenic
|
830603 |
|
GRCh37: 1:197237543-197326143 GRCh38: |
5 |
overlap with 3 genes |
NC_000001.11:g.(?_197084314)_(197478465_?)del |
DEL |
Pathogenic
|
830716 |
|
GRCh37: 1:197053444-197447595 GRCh38: |
6 |
CRB1 |
NC_000001.11:g.(?_197438537)_(197442544_?)del |
DEL |
Pathogenic
|
831883 |
|
GRCh37: 1:197407667-197411674 GRCh38: |
7 |
CRB1 |
|
INSERT |
Pathogenic
|
870263 |
|
GRCh37: GRCh38: |
8 |
CRB1 |
NM_201253.3(CRB1):c.3395_3879-490del |
DEL |
Pathogenic
|
940575 |
|
GRCh37: 1:197404386-197410804 GRCh38: 1:197435256-197441674 |
9 |
CRB1 |
NM_201253.3(CRB1):c.410del (p.Pro137fs) |
DEL |
Pathogenic
|
587386 |
rs1558057153 |
GRCh37: 1:197297889-197297889 GRCh38: 1:197328759-197328759 |
10 |
CRB1 |
NM_201253.3(CRB1):c.70+1G>A |
SNV |
Pathogenic
|
587387 |
rs1237424465 |
GRCh37: 1:197237613-197237613 GRCh38: 1:197268483-197268483 |
11 |
CRB1 |
NM_201253.3(CRB1):c.2072G>A (p.Trp691Ter) |
SNV |
Pathogenic
|
587388 |
rs1558127317 |
GRCh37: 1:197391030-197391030 GRCh38: 1:197421900-197421900 |
12 |
CRB1 |
NC_000001.11:g.(?_197268194)_(197268492_?)del |
DEL |
Pathogenic
|
646396 |
|
GRCh37: 1:197237324-197237622 GRCh38: 1:197268194-197268492 |
13 |
CRB1 |
NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs) |
INDEL |
Pathogenic
|
287179 |
rs886043587 |
GRCh37: 1:197313557-197313558 GRCh38: 1:197344427-197344428 |
14 |
CRB1 |
NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs) |
INDEL |
Pathogenic
|
971038 |
rs1665066272 |
GRCh37: 1:197404136-197404147 GRCh38: 1:197435006-197435017 |
15 |
CRB1 |
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) |
SNV |
Pathogenic
Pathogenic
|
99866 |
rs62645754 |
GRCh37: 1:197326120-197326120 GRCh38: 1:197356990-197356990 |
16 |
CRB1 |
NM_201253.3(CRB1):c.1148_1149dup (p.Ile384fs) |
DUP |
Pathogenic
|
973906 |
rs1660517312 |
GRCh37: 1:197326118-197326119 GRCh38: 1:197356988-197356989 |
17 |
CRB1 |
NM_201253.3(CRB1):c.1971del (p.Asn657fs) |
DEL |
Pathogenic
|
973908 |
rs1664343244 |
GRCh37: 1:197390929-197390929 GRCh38: 1:197421799-197421799 |
18 |
CRB1 |
NM_201253.3(CRB1):c.2243del (p.Pro748fs) |
DEL |
Pathogenic
|
973911 |
rs1664651786 |
GRCh37: 1:197396697-197396697 GRCh38: 1:197427567-197427567 |
19 |
CRB1 |
NM_201253.3(CRB1):c.2853dup (p.Ala952fs) |
DUP |
Pathogenic
|
99891 |
rs281865173 |
GRCh37: 1:197403845-197403846 GRCh38: 1:197434715-197434716 |
20 |
CRB1 |
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer) |
MICROSAT |
Pathogenic
Pathogenic
|
801600 |
rs1571557864 |
GRCh37: 1:197404453-197404454 GRCh38: 1:197435323-197435324 |
21 |
CRB1 |
NM_201253.3(CRB1):c.4005+1G>A |
SNV |
Pathogenic
|
812303 |
rs890453675 |
GRCh37: 1:197411423-197411423 GRCh38: 1:197442293-197442293 |
22 |
CRB1 |
NM_201253.3(CRB1):c.691C>T (p.Gln231Ter) |
SNV |
Pathogenic
Pathogenic
|
973923 |
rs1659642763 |
GRCh37: 1:197313449-197313449 GRCh38: 1:197344319-197344319 |
23 |
CRB1 |
NM_201253.3(CRB1):c.805C>T (p.Gln269Ter) |
SNV |
Pathogenic
|
973924 |
rs753224594 |
GRCh37: 1:197313563-197313563 GRCh38: 1:197344433-197344433 |
24 |
CRB1 |
NM_201253.3(CRB1):c.2479G>T (p.Gly827Ter) |
SNV |
Pathogenic
|
99880 |
rs62636269 |
GRCh37: 1:197396934-197396934 GRCh38: 1:197427804-197427804 |
25 |
CRB1 |
NM_201253.3(CRB1):c.3668_3669delinsA (p.Gln1222_Cys1223insTer) |
INDEL |
Pathogenic
|
973920 |
rs1665112963 |
GRCh37: 1:197404661-197404662 GRCh38: 1:197435531-197435532 |
26 |
CRB1 |
NM_201253.3(CRB1):c.4214del (p.Leu1405fs) |
DEL |
Pathogenic
|
973926 |
rs1667270187 |
GRCh37: 1:197447002-197447002 GRCh38: 1:197477872-197477872 |
27 |
CRB1 |
NM_201253.3(CRB1):c.3153G>A (p.Trp1051Ter) |
SNV |
Pathogenic
|
973932 |
rs1249210332 |
GRCh37: 1:197404146-197404146 GRCh38: 1:197435016-197435016 |
28 |
CRB1 |
NM_201253.3(CRB1):c.3408del (p.Cys1137fs) |
DEL |
Pathogenic
|
973933 |
rs1665093194 |
GRCh37: 1:197404401-197404401 GRCh38: 1:197435271-197435271 |
29 |
CRB1 |
NM_201253.3(CRB1):c.1041del (p.Cys348fs) |
DEL |
Pathogenic
|
973934 |
rs1660507732 |
GRCh37: 1:197326010-197326010 GRCh38: 1:197356880-197356880 |
30 |
CRB1 |
NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter) |
SNV |
Pathogenic
|
973935 |
rs1664669402 |
GRCh37: 1:197396921-197396921 GRCh38: 1:197427791-197427791 |
31 |
CRB1 |
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys) |
SNV |
Pathogenic
Pathogenic
|
973930 |
rs28939720 |
GRCh37: 1:197396689-197396689 GRCh38: 1:197427559-197427559 |
32 |
CRB1 |
NM_201253.3(CRB1):c.3347del (p.Phe1116fs) |
DEL |
Pathogenic
|
99900 |
rs62636278 |
GRCh37: 1:197404338-197404338 GRCh38: 1:197435208-197435208 |
33 |
CRB1 |
NM_201253.3(CRB1):c.3507G>A (p.Trp1169Ter) |
SNV |
Pathogenic
|
973938 |
rs1665100553 |
GRCh37: 1:197404500-197404500 GRCh38: 1:197435370-197435370 |
34 |
CRB1 |
NM_201253.3(CRB1):c.1818T>A (p.Cys606Ter) |
SNV |
Pathogenic
|
973939 |
rs371114178 |
GRCh37: 1:197390776-197390776 GRCh38: 1:197421646-197421646 |
35 |
CRB1 |
NM_201253.3(CRB1):c.624T>A (p.Tyr208Ter) |
SNV |
Pathogenic
|
973940 |
rs1658697788 |
GRCh37: 1:197298105-197298105 GRCh38: 1:197328975-197328975 |
36 |
CRB1 |
NM_201253.3(CRB1):c.2024G>A (p.Trp675Ter) |
SNV |
Pathogenic
|
978992 |
rs1664348016 |
GRCh37: 1:197390982-197390982 GRCh38: 1:197421852-197421852 |
37 |
overlap with 7 genes |
NC_000001.10:g.(?_196918585)_(197742062_?)del |
DEL |
Pathogenic
|
1076360 |
|
GRCh37: 1:196918585-197742062 GRCh38: |
38 |
CRB1 |
NC_000001.10:g.(?_197407677)_(197411422_?)del |
DEL |
Pathogenic
|
1076361 |
|
GRCh37: 1:197407677-197411422 GRCh38: |
39 |
CRB1 |
NC_000001.10:g.(?_197404386)_197410804del |
DEL |
Pathogenic
|
1076363 |
|
GRCh37: GRCh38: |
40 |
CRB1 |
NM_201253.3(CRB1):c.2630_2631dup (p.Leu878fs) |
DUP |
Pathogenic
|
1172709 |
|
GRCh37: 1:197397084-197397085 GRCh38: 1:197427954-197427955 |
41 |
CRB1 |
NM_201253.3(CRB1):c.653-1G>T |
SNV |
Pathogenic
|
866627 |
rs760287363 |
GRCh37: 1:197313410-197313410 GRCh38: 1:197344280-197344280 |
42 |
CRB1 |
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter) |
SNV |
Pathogenic
|
866662 |
rs1558138741 |
GRCh37: 1:197404444-197404444 GRCh38: 1:197435314-197435314 |
43 |
CRB1 |
NM_201253.3(CRB1):c.71del (p.Asn24fs) |
DEL |
Pathogenic
|
866715 |
rs1654722914 |
GRCh37: 1:197237608-197237608 GRCh38: 1:197268478-197268478 |
44 |
CRB1 |
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp) |
SNV |
Pathogenic
|
427127 |
rs1085307972 |
GRCh37: 1:197396956-197396956 GRCh38: 1:197427826-197427826 |
45 |
CRB1 |
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu) |
SNV |
Pathogenic
|
73455 |
rs267598278 |
GRCh37: 1:197390871-197390871 GRCh38: 1:197421741-197421741 |
46 |
CRB1 |
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter) |
SNV |
Pathogenic
|
236479 |
rs878853371 |
GRCh37: 1:197403862-197403862 GRCh38: 1:197434732-197434732 |
47 |
CRB1 |
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter) |
SNV |
Pathogenic
|
801594 |
rs1571878277 |
GRCh37: 1:197316605-197316605 GRCh38: 1:197347475-197347475 |
48 |
CRB1 |
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter) |
SNV |
Pathogenic
|
931560 |
rs1665282478 |
GRCh37: 1:197407805-197407805 GRCh38: 1:197438675-197438675 |
49 |
CRB1 |
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) |
SNV |
Pathogenic
Pathogenic/Likely Pathogenic
|
635155 |
rs150412614 |
GRCh37: 1:197396685-197396685 GRCh38: 1:197427555-197427555 |
50 |
CRB1 |
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val) |
SNV |
Pathogenic
|
636016 |
rs781705903 |
GRCh37: 1:197404114-197404114 GRCh38: 1:197434984-197434984 |