Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1476 | chr9 | 21971194 | G | GC |
c.164dup
|
p.Ser56GlnfsTer64
|
- | 4.0 |
|
B | |
| 4325 | chr9 | 21971202 | T | TCATGAC |
c.151_156dup
|
p.Val51_Met52dup
|
- | 4.0 |
|
B | |
| 28036 | chr9 | 21971206 | G | T |
c.153C>A
|
p.Val51=
|
- | 3.0 |
|
B | |
| 27435 | chr9 | 21971208 | C | A |
c.151G>T
|
p.Val51Phe
|
- | 3.0 |
|
B | |
| 349 | chr9 | 21971209 | C | A |
c.151-1G>T
|
p.?
|
4.67 |
|
A | ||
| 348 | chr9 | 21971209 | C | T |
c.151-1G>A
|
p.?
|
4.67 |
|
A | ||
| 350 | chr9 | 21971210 | T | C |
c.151-2A>G
|
p.?
|
4.67 |
|
A | ||
| 34265 | chr9 | 21971211 | G | C |
c.151-3C>G
|
-
|
- | 3.0 |
|
B | |
| 25519 | chr9 | 21971330 | C | T |
c.151-122G>A
|
-
|
3.0 |
|
B | ||
| 25520 | chr9 | 21971331 | C | T |
c.151-123G>A
|
-
|
3.0 |
|
B | ||
| 35602 | chr9 | 21974673 | CCCACCTGGATCGGCCT | C |
c.139_150+4del
|
p.?
|
- | 4.0 |
|
B | |
| 26335 | chr9 | 21974677 | C | T |
c.150+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 17875 | chr9 | 21974678 | C | A |
c.150G>T
|
p.Gln50His
|
3.5 |
|
B | ||
| 22564 | chr9 | 21974678 | C | G |
c.150G>C
|
p.Gln50His
|
4.0 |
|
B | ||
| 351 | chr9 | 21974680 | G | A |
c.148C>T
|
p.Gln50Ter
|
4.67 |
|
A | ||
| 30508 | chr9 | 21974680 | G | T |
c.148C>A
|
p.Gln50Lys
|
3.5 |
|
B | ||
| 7373 | chr9 | 21974681 | G | A |
c.147C>T
|
p.Ile49=
|
- | 2.0 |
|
B | |
| 7356 | chr9 | 21974681 | G | C |
c.147C>G
|
p.Ile49Met
|
3.0 |
|
B | ||
| 16469 | chr9 | 21974681 | G | T |
c.147C>A
|
p.Ile49=
|
2.0 |
|
B | ||
| 352 | chr9 | 21974685 | G | A |
c.143C>T
|
p.Pro48Leu
|
- | 4.0 |
|
B |