1 |
CRX |
NM_000554.6(CRX):c.520del (p.Ala174fs) |
DEL |
Pathogenic
|
99611 |
rs281865515 |
GRCh37: 19:48342843-48342843 GRCh38: 19:47839586-47839586 |
2 |
CRX |
GRCh37/hg19 19q13.33(chr19:48328087-48339179) |
CN LOSS |
Pathogenic
|
915983 |
|
GRCh37: 19:48328087-48339179 GRCh38: |
3 |
CRX |
NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs) |
DEL |
Pathogenic
|
939164 |
|
GRCh37: 19:48342985-48346262 GRCh38: 19:47839728-47843005 |
4 |
CRX |
NM_000554.6(CRX):c.489G>A (p.Trp163Ter) |
SNV |
Pathogenic
|
973898 |
rs1968166379 |
GRCh37: 19:48342813-48342813 GRCh38: 19:47839556-47839556 |
5 |
CRX |
NM_000554.6(CRX):c.549del (p.Pro184fs) |
DEL |
Pathogenic
|
973901 |
rs1968167603 |
GRCh37: 19:48342871-48342871 GRCh38: 19:47839614-47839614 |
6 |
CRX |
NM_000554.6(CRX):c.570del (p.Tyr191fs) |
DEL |
Pathogenic
|
973902 |
rs1968168564 |
GRCh37: 19:48342890-48342890 GRCh38: 19:47839633-47839633 |
7 |
CRX |
NM_000554.6(CRX):c.585C>A (p.Tyr195Ter) |
SNV |
Pathogenic
|
973903 |
rs373497612 |
GRCh37: 19:48342909-48342909 GRCh38: 19:47839652-47839652 |
8 |
CRX |
NM_000554.6(CRX):c.695del (p.Pro232fs) |
DEL |
Pathogenic
|
191298 |
rs786205630 |
GRCh37: 19:48343017-48343017 GRCh38: 19:47839760-47839760 |
9 |
CRX |
NM_000554.6(CRX):c.816del (p.Thr273fs) |
DEL |
Pathogenic
|
973904 |
rs1968173864 |
GRCh37: 19:48343137-48343137 GRCh38: 19:47839880-47839880 |
10 |
CRX |
NM_000554.6(CRX):c.191del (p.Pro64fs) |
DEL |
Pathogenic
|
973905 |
rs1968117526 |
GRCh37: 19:48339588-48339588 GRCh38: 19:47836331-47836331 |
11 |
CRX |
NM_000554.6(CRX):c.450del (p.Gly151fs) |
DEL |
Pathogenic
|
973941 |
rs1968165665 |
GRCh37: 19:48342774-48342774 GRCh38: 19:47839517-47839517 |
12 |
CRX |
NM_000554.6(CRX):c.458del (p.Pro153fs) |
DEL |
Pathogenic
|
973942 |
rs1968165787 |
GRCh37: 19:48342779-48342779 GRCh38: 19:47839522-47839522 |
13 |
CRX |
NC_000019.9:g.(?_48339500)_(48343224_?)del |
DEL |
Pathogenic
|
1071706 |
|
GRCh37: 19:48339500-48343224 GRCh38: |
14 |
CRX |
NC_000019.9:g.(?_48342985)_48346262del |
DEL |
Pathogenic
|
1071707 |
|
GRCh37: GRCh38: |
15 |
CRX |
NM_000554.6(CRX):c.564del (p.Ala189fs) |
DEL |
Pathogenic
|
1172711 |
|
GRCh37: 19:48342887-48342887 GRCh38: 19:47839630-47839630 |
16 |
CRX |
NM_000554.6(CRX):c.119G>A (p.Arg40Gln) |
SNV |
Pathogenic
|
437959 |
rs771450991 |
GRCh37: 19:48339518-48339518 GRCh38: 19:47836261-47836261 |
17 |
CRX |
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) |
DEL |
Pathogenic
|
803571 |
rs1599991611 |
GRCh37: 19:48342824-48342825 GRCh38: 19:47839567-47839568 |
18 |
CRX |
NM_000554.6(CRX):c.118C>T (p.Arg40Trp) |
SNV |
Pathogenic
|
864383 |
rs749738655 |
GRCh37: 19:48339517-48339517 GRCh38: 19:47836260-47836260 |
19 |
CRX |
NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer) |
DEL |
Pathogenic
|
938600 |
rs1968160841 |
GRCh37: 19:48342585-48342598 GRCh38: 19:47839328-47839341 |
20 |
CRX |
NM_000554.6(CRX):c.449C>G (p.Ser150Ter) |
SNV |
Pathogenic
|
218921 |
rs864309706 |
GRCh37: 19:48342773-48342773 GRCh38: 19:47839516-47839516 |
21 |
CRX |
NM_000554.6(CRX):c.127C>T (p.Arg43Cys) |
SNV |
Pathogenic
|
636019 |
rs1437021651 |
GRCh37: 19:48339526-48339526 GRCh38: 19:47836269-47836269 |
22 |
CRX |
NM_000554.6(CRX):c.447dup (p.Ser150fs) |
DUP |
Pathogenic
|
99607 |
rs61748444 |
GRCh37: 19:48342767-48342768 GRCh38: 19:47839510-47839511 |
23 |
CRX |
NM_000554.6(CRX):c.512del (p.Leu171fs) |
DEL |
Pathogenic
Pathogenic
|
973899 |
rs1968166909 |
GRCh37: 19:48342834-48342834 GRCh38: 19:47839577-47839577 |
24 |
CRX |
NM_000554.6(CRX):c.239A>C (p.Glu80Ala) |
SNV |
Pathogenic
|
7416 |
rs104894671 |
GRCh37: 19:48339638-48339638 GRCh38: 19:47836381-47836381 |
25 |
CRX |
NM_000554.6(CRX):c.152_153del (p.Leu51fs) |
DEL |
Pathogenic
|
944597 |
rs1968116898 |
GRCh37: 19:48339551-48339552 GRCh38: 19:47836294-47836295 |
26 |
CRX |
NM_000554.6(CRX):c.128G>A (p.Arg43His) |
SNV |
Pathogenic
|
956064 |
rs771736389 |
GRCh37: 19:48339527-48339527 GRCh38: 19:47836270-47836270 |
27 |
CRX |
NM_000554.6(CRX):c.571del (p.Tyr191fs) |
DEL |
Pathogenic
|
99614 |
rs61748452 |
GRCh37: 19:48342895-48342895 GRCh38: 19:47839638-47839638 |
28 |
CRX |
NM_000554.6(CRX):c.503_504del (p.Glu168fs) |
MICROSAT |
Pathogenic
|
99609 |
rs61748446 |
GRCh37: 19:48342825-48342826 GRCh38: 19:47839568-47839569 |
29 |
CRX |
NM_000554.6(CRX):c.650del (p.Gly217fs) |
DEL |
Pathogenic
|
99619 |
rs281865517 |
GRCh37: 19:48342973-48342973 GRCh38: 19:47839716-47839716 |
30 |
CRX |
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) |
SNV |
Pathogenic
|
7421 |
rs61748436 |
GRCh37: 19:48339521-48339521 GRCh38: 19:47836264-47836264 |
31 |
CRX |
NM_000554.6(CRX):c.404del (p.Pro135fs) |
DEL |
Pathogenic
|
425192 |
rs1064797246 |
GRCh37: 19:48342726-48342726 GRCh38: 19:47839469-47839469 |
32 |
CRX |
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) |
SNV |
Pathogenic
|
7418 |
rs104894672 |
GRCh37: 19:48339520-48339520 GRCh38: 19:47836263-47836263 |
33 |
CRX |
NM_000554.6(CRX):c.522_523dup (p.Gln175fs) |
MICROSAT |
Pathogenic
|
1184468 |
|
GRCh37: 19:48342843-48342844 GRCh38: 19:47839586-47839587 |
34 |
CRX |
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) |
SNV |
Pathogenic
Uncertain Significance
|
7422 |
rs104894673 |
GRCh37: 19:48342592-48342592 GRCh38: 19:47839335-47839335 |
35 |
CRX |
NM_000554.6(CRX):c.523C>T (p.Gln175Ter) |
SNV |
Pathogenic
|
973900 |
rs1968167093 |
GRCh37: 19:48342847-48342847 GRCh38: 19:47839590-47839590 |
36 |
CRX |
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter) |
SNV |
Likely Pathogenic
|
425193 |
rs1064797247 |
GRCh37: 19:48342987-48342987 GRCh38: 19:47839730-47839730 |
37 |
CRX |
NM_000554.6(CRX):c.437_449del (p.Leu146fs) |
DEL |
Likely Pathogenic
|
866158 |
rs1968165080 |
GRCh37: 19:48342755-48342767 GRCh38: 19:47839498-47839510 |
38 |
CRX |
NM_000554.6(CRX):c.766C>T (p.Gln256Ter) |
SNV |
Likely Pathogenic
|
861103 |
rs1968173024 |
GRCh37: 19:48343090-48343090 GRCh38: 19:47839833-47839833 |
39 |
CRX |
NM_000554.6(CRX):c.101-1G>T |
SNV |
Likely Pathogenic
|
858053 |
rs1968115710 |
GRCh37: 19:48339499-48339499 GRCh38: 19:47836242-47836242 |
40 |
CRX |
NM_000554.6(CRX):c.774T>A (p.Tyr258Ter) |
SNV |
Likely Pathogenic
|
1479901 |
|
GRCh37: 19:48343098-48343098 GRCh38: 19:47839841-47839841 |
41 |
CRX |
NM_000554.6(CRX):c.565del (p.Ala189fs) |
DEL |
Likely Pathogenic
|
599149 |
rs1568626289 |
GRCh37: 19:48342889-48342889 GRCh38: 19:47839632-47839632 |
42 |
CRX |
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) |
SNV |
Likely Pathogenic
|
216914 |
rs863224863 |
GRCh37: 19:48339523-48339523 GRCh38: 19:47836266-47836266 |
43 |
CRX |
NM_000554.6(CRX):c.*2880T>C |
SNV |
Uncertain Significance
|
329775 |
rs142202442 |
GRCh37: 19:48346104-48346104 GRCh38: 19:47842847-47842847 |
44 |
CRX |
NM_000554.6(CRX):c.*809C>G |
SNV |
Uncertain Significance
|
329725 |
rs574128797 |
GRCh37: 19:48344033-48344033 GRCh38: 19:47840776-47840776 |
45 |
CRX |
NM_000554.6(CRX):c.*2821G>A |
SNV |
Uncertain Significance
|
329773 |
rs571610746 |
GRCh37: 19:48346045-48346045 GRCh38: 19:47842788-47842788 |
46 |
CRX |
NM_000554.6(CRX):c.*996C>G |
SNV |
Uncertain Significance
|
329732 |
rs550939154 |
GRCh37: 19:48344220-48344220 GRCh38: 19:47840963-47840963 |
47 |
CRX |
NM_000554.6(CRX):c.*2573C>T |
SNV |
Uncertain Significance
|
329766 |
rs886054559 |
GRCh37: 19:48345797-48345797 GRCh38: 19:47842540-47842540 |
48 |
CRX |
NM_000554.6(CRX):c.*2539C>T |
SNV |
Uncertain Significance
|
329764 |
rs146417527 |
GRCh37: 19:48345763-48345763 GRCh38: 19:47842506-47842506 |
49 |
CRX |
NM_000554.6(CRX):c.*746T>C |
SNV |
Uncertain Significance
|
329721 |
rs886054552 |
GRCh37: 19:48343970-48343970 GRCh38: 19:47840713-47840713 |
50 |
CRX |
NM_000554.6(CRX):c.-55C>T |
SNV |
Uncertain Significance
|
329691 |
rs886054543 |
GRCh37: 19:48325248-48325248 GRCh38: 19:47821991-47821991 |