Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31833 | chr21 | 10570493 | A | G |
c.739A>G
|
p.Ile247Val
|
- | 3.0 |
|
B | |
| 30543 | chr21 | 10577460 | G | A |
c.796G>A
|
p.Glu266Lys
|
3.0 |
|
B | ||
| 17817 | chr21 | 10577491 | G | A |
c.827G>A
|
p.Arg276Gln
|
3.0 |
|
B | ||
| 20927 | chr21 | 10578321 | ATAT | A |
c.857-11_857-9del
|
-
|
- | 3.0 |
|
B | |
| 24200 | chr21 | 10578378 | G | A |
c.898G>A
|
p.Val300Ile
|
3.0 |
|
B | ||
| 14425 | chr21 | 10578391 | T | C |
c.911T>C
|
p.Ile304Thr
|
3.0 |
|
B | ||
| 24113 | chr21 | 10578396 | G | A |
c.916G>A
|
p.Asp306Asn
|
- | 3.0 |
|
B | |
| 28565 | chr21 | 10578422 | A | C |
c.938+4A>C
|
-
|
3.0 |
|
B | ||
| 27840 | chr21 | 10578497 | A | T |
c.939-20A>T
|
-
|
- | 3.0 |
|
B | |
| 12894 | chr21 | 10578553 | G | A |
c.975G>A
|
p.Trp325Ter
|
3.0 |
|
B | ||
| 27565 | chr21 | 10578618 | TC | T |
c.1027+15del
|
-
|
- | 3.0 |
|
B | |
| 12217 | chr21 | 10578619 | C | T |
c.1027+14C>T
|
-
|
3.0 |
|
B | ||
| 31381 | chr21 | 10590498 | C | A |
c.1064C>A
|
p.Ala355Asp
|
- | 3.0 |
|
B | |
| 18192 | chr21 | 10590503 | G | A |
c.1069G>A
|
p.Glu357Lys
|
3.0 |
|
B | ||
| 13575 | chr21 | 10590510 | G | A |
c.1076G>A
|
p.Cys359Tyr
|
3.0 |
|
B | ||
| 12306 | chr21 | 10590515 | A | G |
c.1081A>G
|
p.Thr361Ala
|
3.0 |
|
B | ||
| 12392 | chr21 | 10592332 | A | T |
c.1129A>T
|
p.Thr377Ser
|
3.0 |
|
B | ||
| 23545 | chr21 | 10592337 | C | G |
c.1134C>G
|
p.His378Gln
|
- | 3.0 |
|
B | |
| 12851 | chr21 | 10592341 | G | A |
c.1138G>A
|
p.Glu380Lys
|
3.0 |
|
B | ||
| 31998 | chr21 | 10595970 | G | T |
c.1171-12G>T
|
-
|
3.0 |
|
B |