Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2099 | chr21 | 34859541 | GTT | G |
c.544_545del
|
p.Asn182ProfsTer30
|
- | 3.5 |
|
B | |
| 35145 | chr21 | 34859590 | C | T |
c.509-12G>A
|
-
|
2.0 |
|
B | ||
| 25862 | chr21 | 34859598 | A | G |
c.509-20T>C
|
-
|
- | 3.0 |
|
B | |
| 18732 | chr21 | 34880553 | G | A |
c.508+4C>T
|
-
|
2.5 |
|
B | ||
| 7701 | chr21 | 34880561 | TC | T |
c.503del
|
p.Gly168GlufsTer8
|
- | 3.5 |
|
B | |
| 9373 | chr21 | 34880586 | T | A |
c.479A>T
|
p.Asp160Val
|
- | 3.0 |
|
B | |
| 16467 | chr21 | 34880612 | C | T |
c.453G>A
|
p.Met151Ile
|
- | 3.0 |
|
B | |
| 13889 | chr21 | 34880726 | C | T |
c.352-13G>A
|
-
|
- | 3.0 |
|
B | |
| 18871 | chr21 | 34886870 | G | T |
c.324C>A
|
p.Cys108Ter
|
- | 4.0 |
|
B | |
| 6550 | chr21 | 34886901 | AG | A |
c.292del
|
p.Leu98SerfsTer24
|
4.0 |
|
B | ||
| 24265 | chr21 | 34886922 | C | T |
c.272G>A
|
p.Arg91His
|
3.0 |
|
B | ||
| 22121 | chr21 | 34886950 | GCA | G |
c.242_243del
|
p.Val81AlafsTer56
|
- | 4.0 |
|
B | |
| 2253 | chr21 | 34886970 | TCGCCGCTCCTCAG | T |
c.211_223del
|
p.Leu71ThrfsTer47
|
- | 4.0 |
|
B | |
| 7136 | chr21 | 34887029 | CGCCTCGCTCATCTT | C |
c.151_164del
|
p.Lys51ValfsTer82
|
- | 3.5 |
|
B | |
| 11315 | chr21 | 34887037 | T | C |
c.157A>G
|
p.Ser53Gly
|
3.0 |
|
B | ||
| 3758 | chr21 | 36709186 | G | A |
c.194G>A
|
p.Gly65Glu
|
3.0 |
|
B | ||
| 11224 | chr21 | 37151942 | C | CA |
c.2334dup
|
p.Glu779ArgfsTer18
|
3.0 |
|
B | ||
| 18819 | chr21 | 38383596 | G | A |
c.1247C>T
|
p.Pro416Leu
|
3.0 |
|
B | ||
| 19815 | chr21 | 38383631 | CG | C |
c.1211del
|
p.Pro404ArgfsTer25
|
- | 3.0 |
|
B | |
| 12354 | chr21 | 38383783 | G | A |
c.1060C>T
|
p.Arg354Trp
|
3.0 |
|
B |