1 |
CRTAP |
NM_006371.5(CRTAP):c.472-1021C>G |
SNV |
Pathogenic
|
4947 |
|
GRCh37: 3:33160815-33160815 GRCh38: 3:33119323-33119323 |
2 |
CRTAP |
NM_006371.5(CRTAP):c.879del (p.Phe293fs) |
DEL |
Pathogenic
|
4948 |
rs72659362 |
GRCh37: 3:33171514-33171514 GRCh38: 3:33130022-33130022 |
3 |
CRTAP |
NM_006371.5(CRTAP):c.471+1G>C |
SNV |
Pathogenic
|
4949 |
rs72659359 |
GRCh37: 3:33156041-33156041 GRCh38: 3:33114549-33114549 |
4 |
CRTAP |
NM_006371.5(CRTAP):c.3G>A (p.Met1Ile) |
SNV |
Pathogenic
|
4951 |
rs72659357 |
GRCh37: 3:33155572-33155572 GRCh38: 3:33114080-33114080 |
5 |
CRTAP |
NM_006371.5(CRTAP):c.118G>T (p.Glu40Ter) |
SNV |
Pathogenic
|
217257 |
rs863225043 |
GRCh37: 3:33155687-33155687 GRCh38: 3:33114195-33114195 |
6 |
CRTAP |
NM_006371.5(CRTAP):c.198C>A (p.Tyr66Ter) |
SNV |
Pathogenic
|
658698 |
rs137853939 |
GRCh37: 3:33155767-33155767 GRCh38: 3:33114275-33114275 |
7 |
CRTAP |
NM_006371.5(CRTAP):c.320_321del (p.Arg107fs) |
MICROSAT |
Pathogenic
|
660744 |
rs768626850 |
GRCh37: 3:33155887-33155888 GRCh38: 3:33114395-33114396 |
8 |
CRTAP |
NC_000003.12:g.(?_33114058)_(33124599_?)del |
DEL |
Pathogenic
|
832169 |
|
GRCh37: 3:33155550-33166091 GRCh38: |
9 |
CRTAP |
NM_006371.5(CRTAP):c.8del (p.Pro3fs) |
DEL |
Pathogenic
|
855093 |
rs1701306294 |
GRCh37: 3:33155576-33155576 GRCh38: 3:33114084-33114084 |
10 |
CRTAP |
NM_006371.5(CRTAP):c.1001del (p.Asn334fs) |
DEL |
Pathogenic
|
1395362 |
|
GRCh37: 3:33174124-33174124 GRCh38: 3:33132632-33132632 |
11 |
CRTAP |
NC_000003.11:g.(?_33155570)_(33166091_?)del |
DEL |
Pathogenic
|
1459770 |
|
GRCh37: 3:33155570-33166091 GRCh38: |
12 |
CRTAP |
NM_006371.5(CRTAP):c.172G>T (p.Glu58Ter) |
SNV |
Pathogenic
|
1451956 |
|
GRCh37: 3:33155741-33155741 GRCh38: 3:33114249-33114249 |
13 |
CRTAP |
NM_006371.5(CRTAP):c.404del (p.Ser135fs) |
DEL |
Pathogenic
|
1687175 |
|
GRCh37: 3:33155973-33155973 GRCh38: 3:33114481-33114481 |
14 |
CRTAP |
NM_006371.5(CRTAP):c.826C>T (p.Gln276Ter) |
SNV |
Pathogenic
|
4950 |
rs72659361 |
GRCh37: 3:33171463-33171463 GRCh38: 3:33129971-33129971 |
15 |
CRTAP |
NM_006371.5(CRTAP):c.278_293dup (p.Gly99fs) |
DUP |
Pathogenic
|
4952 |
|
GRCh37: 3:33155840-33155841 GRCh38: 3:33114348-33114349 |
16 |
CRTAP |
NM_006371.5(CRTAP):c.118_133delinsTACCC (p.Glu40fs) |
INDEL |
Pathogenic
|
41922 |
rs387907333 |
GRCh37: 3:33155687-33155702 GRCh38: 3:33114195-33114210 |
17 |
CRTAP |
NM_006371.5(CRTAP):c.561T>G (p.Tyr187Ter) |
SNV |
Pathogenic
|
41923 |
rs387907334 |
GRCh37: 3:33161925-33161925 GRCh38: 3:33120433-33120433 |
18 |
CRTAP |
NM_006371.5(CRTAP):c.470A>G (p.Lys157Arg) |
SNV |
Pathogenic
|
1299365 |
|
GRCh37: 3:33156039-33156039 GRCh38: 3:33114547-33114547 |
19 |
CRTAP |
NM_006371.5(CRTAP):c.62_77del (p.Leu21fs) |
DEL |
Pathogenic
|
1299298 |
|
GRCh37: 3:33155625-33155640 GRCh38: 3:33114133-33114148 |
20 |
CRTAP |
NM_006371.5(CRTAP):c.731_732del (p.Leu244fs) |
MICROSAT |
Pathogenic
|
1453839 |
|
GRCh37: 3:33166007-33166008 GRCh38: 3:33124515-33124516 |
21 |
CRTAP |
NM_006371.5(CRTAP):c.24_31del (p.Ala10fs) |
DEL |
Pathogenic
|
1070506 |
|
GRCh37: 3:33155591-33155598 GRCh38: 3:33114099-33114106 |
22 |
CRTAP |
NM_006371.5(CRTAP):c.18_33del (p.Arg6_Gly7insTer) |
DEL |
Pathogenic
|
1070167 |
|
GRCh37: 3:33155586-33155601 GRCh38: 3:33114094-33114109 |
23 |
CRTAP |
NM_006371.5(CRTAP):c.444C>G (p.Tyr148Ter) |
SNV |
Pathogenic
|
465810 |
rs972668240 |
GRCh37: 3:33156013-33156013 GRCh38: 3:33114521-33114521 |
24 |
overlap with 3 genes |
NC_000003.12:g.(?_33096991)_(33124599_?)del |
DEL |
Pathogenic
|
639876 |
|
GRCh37: 3:33138483-33166091 GRCh38: 3:33096991-33124599 |
25 |
CRTAP |
NM_006371.5(CRTAP):c.471+2C>A |
SNV |
Pathogenic/Likely Pathogenic
|
208570 |
rs137853943 |
GRCh37: 3:33156042-33156042 GRCh38: 3:33114550-33114550 |
26 |
CRTAP |
NM_006371.5(CRTAP):c.688G>T (p.Glu230Ter) |
SNV |
Likely Pathogenic
|
1687531 |
|
GRCh37: 3:33165966-33165966 GRCh38: 3:33124474-33124474 |
27 |
CRTAP |
NM_006371.5(CRTAP):c.794-2A>G |
SNV |
Likely Pathogenic
|
1477218 |
|
GRCh37: 3:33171429-33171429 GRCh38: 3:33129937-33129937 |
28 |
CRTAP |
NM_006371.5(CRTAP):c.22dup (p.Ala8fs) |
DUP |
Likely Pathogenic
|
1324173 |
|
GRCh37: 3:33155585-33155586 GRCh38: 3:33114093-33114094 |
29 |
CRTAP |
NM_006371.5(CRTAP):c.471+2C>G |
SNV |
Likely Pathogenic
|
212732 |
rs137853943 |
GRCh37: 3:33156042-33156042 GRCh38: 3:33114550-33114550 |
30 |
CRTAP |
NM_006371.5(CRTAP):c.452T>C (p.Leu151Pro) |
SNV |
Likely Pathogenic
|
1510318 |
|
GRCh37: 3:33156021-33156021 GRCh38: 3:33114529-33114529 |
31 |
CRTAP |
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
344809 |
rs137853944 |
GRCh37: 3:33165912-33165912 GRCh38: 3:33124420-33124420 |
32 |
CRTAP |
NM_006371.5(CRTAP):c.1068+11T>C |
SNV |
Conflicting Interpretations Of Pathogenicity
|
344814 |
rs761750861 |
GRCh37: 3:33174203-33174203 GRCh38: 3:33132711-33132711 |
33 |
CRTAP |
NM_006371.5(CRTAP):c.930C>T (p.Asp310=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
344812 |
rs762039541 |
GRCh37: 3:33174054-33174054 GRCh38: 3:33132562-33132562 |
34 |
CRTAP |
NM_006371.5(CRTAP):c.528T>G (p.Pro176=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
900859 |
rs774680682 |
GRCh37: 3:33161892-33161892 GRCh38: 3:33120400-33120400 |
35 |
CRTAP |
NM_006371.5(CRTAP):c.654C>T (p.Asn218=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
465813 |
rs144486582 |
GRCh37: 3:33165932-33165932 GRCh38: 3:33124440-33124440 |
36 |
CRTAP |
NM_006371.5(CRTAP):c.655G>A (p.Gly219Ser) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
465814 |
rs145048208 |
GRCh37: 3:33165933-33165933 GRCh38: 3:33124441-33124441 |
37 |
CRTAP |
NM_006371.5(CRTAP):c.732C>T (p.Leu244=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
284911 |
rs149119710 |
GRCh37: 3:33166010-33166010 GRCh38: 3:33124518-33124518 |
38 |
CRTAP |
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
439559 |
rs115198029 |
GRCh37: 3:33174163-33174163 GRCh38: 3:33132671-33132671 |
39 |
CRTAP |
NM_006371.5(CRTAP):c.376C>T (p.Leu126=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
899714 |
rs756961672 |
GRCh37: 3:33155945-33155945 GRCh38: 3:33114453-33114453 |
40 |
CRTAP |
NM_006371.5(CRTAP):c.111A>G (p.Pro37=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
899713 |
rs772038741 |
GRCh37: 3:33155680-33155680 GRCh38: 3:33114188-33114188 |
41 |
CRTAP |
NM_006371.5(CRTAP):c.233G>A (p.Arg78His) |
SNV |
Uncertain Significance
|
1399562 |
|
GRCh37: 3:33155802-33155802 GRCh38: 3:33114310-33114310 |
42 |
CRTAP |
NM_006371.5(CRTAP):c.40C>G (p.Leu14Val) |
SNV |
Uncertain Significance
|
1359400 |
|
GRCh37: 3:33155609-33155609 GRCh38: 3:33114117-33114117 |
43 |
CRTAP |
NM_006371.5(CRTAP):c.113G>C (p.Arg38Pro) |
SNV |
Uncertain Significance
|
1379220 |
|
GRCh37: 3:33155682-33155682 GRCh38: 3:33114190-33114190 |
44 |
CRTAP |
NM_006371.5(CRTAP):c.851T>C (p.Val284Ala) |
SNV |
Uncertain Significance
|
1371784 |
|
GRCh37: 3:33171488-33171488 GRCh38: 3:33129996-33129996 |
45 |
CRTAP |
NM_006371.5(CRTAP):c.235G>C (p.Asp79His) |
SNV |
Uncertain Significance
|
1349797 |
|
GRCh37: 3:33155804-33155804 GRCh38: 3:33114312-33114312 |
46 |
CRTAP |
NM_006371.5(CRTAP):c.1152+10del |
DEL |
Uncertain Significance
|
465806 |
rs1167597599 |
GRCh37: 3:33175767-33175767 GRCh38: 3:33134275-33134275 |
47 |
CRTAP |
NM_006371.5(CRTAP):c.761A>G (p.Lys254Arg) |
SNV |
Uncertain Significance
|
1030103 |
rs114245114 |
GRCh37: 3:33166039-33166039 GRCh38: 3:33124547-33124547 |
48 |
CRTAP |
NM_006371.5(CRTAP):c.1153-3C>G |
SNV |
Uncertain Significance
|
1019549 |
rs201554363 |
GRCh37: 3:33183884-33183884 GRCh38: 3:33142392-33142392 |
49 |
CRTAP |
NM_006371.5(CRTAP):c.452T>G (p.Leu151Arg) |
SNV |
Uncertain Significance
|
1018351 |
rs1405064021 |
GRCh37: 3:33156021-33156021 GRCh38: 3:33114529-33114529 |
50 |
CRTAP |
NM_006371.5(CRTAP):c.115G>T (p.Asp39Tyr) |
SNV |
Uncertain Significance
|
1014103 |
rs768482278 |
GRCh37: 3:33155684-33155684 GRCh38: 3:33114192-33114192 |