Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10881 | chr2 | 226798375 | CGTG | C |
c.361_363del
|
p.His121del
|
- | 3.0 |
|
B | |
| 26172 | chr2 | 226798439 | C | G |
c.300G>C
|
p.Glu100Asp
|
- | 3.0 |
|
B | |
| 22846 | chr2 | 226798508 | G | A |
c.231C>T
|
p.Asp77=
|
3.0 |
|
B | ||
| 1364 | chr2 | 226798630 | C | T |
c.109G>A
|
p.Glu37Lys
|
3.0 |
|
B | ||
| 3301 | chr2 | 227340291 | G | A |
c.352-1G>A
|
p.?
|
3.0 |
|
B | ||
| 3526 | chr2 | 227728401 | TGCG | T |
-
c.69_71del
|
-
p.Gly26del
|
3.0 |
|
B | ||
| 26549 | chr2 | 232015642 | G | T |
c.181G>T
|
p.Glu61Ter
|
- | 3.5 |
|
B | |
| 28103 | chr2 | 232024332 | T | C |
c.264+2T>C
|
p.?
|
- | 4.0 |
|
B | |
| 23857 | chr2 | 232087621 | G | T |
c.501G>T
|
p.Glu167Asp
|
- | 3.0 |
|
B | |
| 4243 | chr2 | 232087631 | G | T |
c.511G>T
|
p.Asp171Tyr
|
- | 3.0 |
|
B | |
| 18511 | chr2 | 232087693 | G | C |
c.573G>C
|
p.Lys191Asn
|
- | 3.0 |
|
B | |
| 30432 | chr2 | 232130724 | T | G |
c.702+5T>G
|
-
|
- | 3.0 |
|
B | |
| 668 | chr2 | 232136579 | C | A |
c.810C>A
|
p.Pro270=
|
- | 3.0 |
|
B | |
| 16236 | chr2 | 232163542 | C | T |
c.1034C>T
|
p.Ser345Phe
|
- | 3.0 |
|
B | |
| 27718 | chr2 | 232238513 | T | TC |
c.1205-18dup
|
-
|
- | 3.0 |
|
B | |
| 30088 | chr2 | 232238637 | G | A |
c.1309G>A
|
p.Val437Ile
|
- | 3.0 |
|
B | |
| 34967 | chr2 | 232249325 | G | A |
c.1404G>A
|
p.Trp468Ter
|
- | 3.5 |
|
B | |
| 18992 | chr2 | 232263226 | G | A |
c.1445G>A
|
p.Gly482Asp
|
- | 3.0 |
|
B | |
| 574 | chr2 | 232263289 | G | T |
c.1508G>T
|
p.Ser503Ile
|
- | 3.0 |
|
B | |
| 4163 | chr2 | 232263382 | G | T |
c.1601G>T
|
p.Gly534Val
|
- | 3.0 |
|
B |