Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20481 | chr10 | 87952157 | T | G |
c.532T>G
|
p.Tyr178Asp
|
3.5 |
|
B | ||
| 23165 | chr10 | 87952158 | ATAGC | A |
c.536_539del
|
p.Ser179ThrfsTer3
|
- | 4.0 |
|
B | |
| 52 | chr10 | 87952170 | T | C |
c.545T>C
|
p.Leu182Ser
|
3.0 |
|
B | ||
| 23139 | chr10 | 87952170 | T | TA |
c.548dup
|
p.Asn184GlufsTer6
|
4.5 |
|
B | ||
| 14511 | chr10 | 87952185 | AT | A |
c.562del
|
p.Tyr188IlefsTer11
|
- | 4.0 |
|
B | |
| 392 | chr10 | 87952189 | T | A |
c.564T>A
|
p.Tyr188Ter
|
4.67 |
|
A | ||
| 1190 | chr10 | 87952190 | AGACCAGTGGCACTGTTGTTTC | A |
c.566_586del
|
p.Arg189_His196delinsAsn
|
- | 3.0 |
|
B | |
| 27567 | chr10 | 87952202 | CTGT | C |
c.582_584del
|
p.Leu194del
|
- | 3.0 |
|
B | |
| 8565 | chr10 | 87952203 | T | C |
c.578T>C
|
p.Leu193Pro
|
3.5 |
|
B | ||
| 393 | chr10 | 87952215 | AGAT | A |
c.595_597del
|
p.Met199del
|
4.5 |
|
B | ||
| 51 | chr10 | 87952235 | C | G |
c.610C>G
|
p.Pro204Ala
|
3.5 |
|
B | ||
| 27625 | chr10 | 87952247 | GGCGGAACTTGCAGTAAGT | G |
c.625_634+8del
|
p.?
|
- | 4.0 |
|
B | |
| 33153 | chr10 | 87952254 | C | CT |
c.631dup
|
p.Cys211LeufsTer32
|
- | 4.0 |
|
B | |
| 3082 | chr10 | 87952260 | G | A |
c.634+1G>A
|
p.?
|
4.0 |
|
B | ||
| 8706 | chr10 | 87952261 | T | A |
c.634+2T>A
|
p.?
|
- | 4.0 |
|
B | |
| 23801 | chr10 | 87952261 | T | C |
c.634+2T>C
|
p.?
|
5.0 |
|
B | ||
| 2849 | chr10 | 87952264 | G | A |
c.634+5G>A
|
-
|
3.5 |
|
B | ||
| 9313 | chr10 | 87952265 | T | G |
c.634+6T>G
|
-
|
- | 3.0 |
|
B | |
| 33319 | chr10 | 87957844 | A | G |
c.635-9A>G
|
-
|
3.0 |
|
B | ||
| 35333 | chr10 | 87957851 | A | C |
c.635-2A>C
|
p.?
|
4.0 |
|
B |