Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29345 | chr10 | 87933239 | CA | C |
c.481del
|
p.Arg161GlufsTer6
|
- | 4.0 |
|
B | |
| 8206 | chr10 | 87933244 | A | C |
c.485A>C
|
p.Asp162Ala
|
- | 3.5 |
|
B | |
| 2871 | chr10 | 87933245 | C | CA |
c.491dup
|
p.Val166SerfsTer14
|
- | 4.0 |
|
B | |
| 387 | chr10 | 87933253 | T | G |
c.492+2T>G
|
p.?
|
4.67 |
|
A | ||
| 22566 | chr10 | 87952105 | TTCTGTCCACCAGGGAGTAACTATTCCCAGTCA | T |
c.493-12_512del
|
p.?
|
- | 4.0 |
|
B | |
| 3839 | chr10 | 87952116 | A | T |
c.493-2A>T
|
p.?
|
4.0 |
|
B | ||
| 388 | chr10 | 87952117 | G | A |
c.493-1G>A
|
p.?
|
4.67 |
|
A | ||
| 389 | chr10 | 87952118 | G | A |
c.493G>A
|
p.Gly165Arg
|
4.33 |
|
A | ||
| 24197 | chr10 | 87952119 | G | A |
c.494G>A
|
p.Gly165Glu
|
4.0 |
|
B | ||
| 390 | chr10 | 87952119 | G | T |
c.494G>T
|
p.Gly165Val
|
4.33 |
|
A | ||
| 18928 | chr10 | 87952125 | CTA | C |
c.502_503del
|
p.Ile168SerfsTer11
|
- | 4.5 |
|
B | |
| 27409 | chr10 | 87952135 | TCA | T |
c.511_512del
|
p.Gln171GlufsTer8
|
- | 4.0 |
|
B | |
| 614 | chr10 | 87952136 | C | G |
c.511C>G
|
p.Gln171Glu
|
3.5 |
|
B | ||
| 391 | chr10 | 87952136 | C | T |
c.511C>T
|
p.Gln171Ter
|
4.67 |
|
A | ||
| 2820 | chr10 | 87952142 | C | A |
c.517C>A
|
p.Arg173Ser
|
3.5 |
|
B | ||
| 2479 | chr10 | 87952142 | C | T |
c.517C>T
|
p.Arg173Cys
|
3.5 |
|
B | ||
| 15611 | chr10 | 87952143 | G | A |
c.518G>A
|
p.Arg173His
|
3.5 |
|
B | ||
| 10418 | chr10 | 87952148 | G | A |
c.523G>A
|
p.Val175Met
|
3.5 |
|
B | ||
| 6381 | chr10 | 87952150 | G | GTAT |
c.532_534dup
|
p.Tyr178dup
|
- | 3.0 |
|
B | |
| 6923 | chr10 | 87952155 | A | G |
c.530A>G
|
p.Tyr177Cys
|
3.0 |
|
B |