Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17485 | chr21 | 10542403 | C | A |
c.74C>A
|
p.Thr25Lys
|
- | 3.0 |
|
B | |
| 23544 | chr21 | 10543331 | C | A |
c.122C>A
|
p.Pro41Gln
|
- | 3.0 |
|
B | |
| 17901 | chr21 | 10543340 | G | C |
c.131G>C
|
p.Ser44Thr
|
- | 3.0 |
|
B | |
| 30668 | chr21 | 10543352 | G | A |
c.143G>A
|
p.Gly48Glu
|
- | 3.0 |
|
B | |
| 23110 | chr21 | 10552654 | A | G |
c.174-3A>G
|
-
|
3.0 |
|
B | ||
| 24083 | chr21 | 10552677 | A | G |
c.194A>G
|
p.Lys65Arg
|
- | 3.0 |
|
B | |
| 16437 | chr21 | 10552715 | G | T |
c.232G>T
|
p.Asp78Tyr
|
- | 3.0 |
|
B | |
| 32528 | chr21 | 10559484 | C | T |
c.234-10C>T
|
-
|
3.0 |
|
B | ||
| 14900 | chr21 | 10559520 | C | T |
c.260C>T
|
p.Ser87Leu
|
- | 3.0 |
|
B | |
| 24592 | chr21 | 10559529 | C | T |
c.269C>T
|
p.Ser90Leu
|
3.0 |
|
B | ||
| 21492 | chr21 | 10559564 | C | A |
c.284+20C>A
|
-
|
3.0 |
|
B | ||
| 11453 | chr21 | 10561015 | A | G |
c.285-15A>G
|
-
|
3.0 |
|
B | ||
| 14650 | chr21 | 10561058 | G | A |
c.313G>A
|
p.Asp105Asn
|
- | 3.0 |
|
B | |
| 12850 | chr21 | 10561073 | C | T |
c.328C>T
|
p.Leu110Phe
|
3.0 |
|
B | ||
| 15639 | chr21 | 10561082 | C | A |
c.337C>A
|
p.Leu113Ile
|
- | 3.0 |
|
B | |
| 25960 | chr21 | 10561113 | C | T |
c.368C>T
|
p.Pro123Leu
|
3.0 |
|
B | ||
| 31049 | chr21 | 10561118 | G | A |
c.373G>A
|
p.Glu125Lys
|
- | 3.0 |
|
B | |
| 34536 | chr21 | 10569534 | C | A |
c.664C>A
|
p.Arg222=
|
3.0 |
|
B | ||
| 11433 | chr21 | 10569666 | C | T |
c.667-17C>T
|
-
|
3.0 |
|
B | ||
| 16438 | chr21 | 10570484 | G | T |
c.731-1G>T
|
p.?
|
3.0 |
|
B |