Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30585 | chr2 | 178783036 | C | T |
c.2870G>A
|
p.Gly957Asp
|
3.0 |
|
B | ||
| 20290 | chr2 | 178783053 | AT | A |
c.2852del
|
p.Asn951MetfsTer2
|
- | 3.0 |
|
B | |
| 15409 | chr2 | 178783745 | G | A |
c.2816C>T
|
p.Pro939Leu
|
- | 3.0 |
|
B | |
| 21371 | chr2 | 178784101 | C | A |
c.2744G>T
|
p.Arg915Leu
|
- | 3.0 |
|
B | |
| 26598 | chr2 | 178784141 | C | G |
c.2704G>C
|
p.Val902Leu
|
- | 3.0 |
|
B | |
| 20802 | chr2 | 178784144 | C | T |
c.2701G>A
|
p.Glu901Lys
|
3.0 |
|
B | ||
| 35230 | chr2 | 178784159 | C | T |
c.2686G>A
|
p.Val896Ile
|
2.5 |
|
B | ||
| 30980 | chr2 | 178785627 | C | T |
c.2486G>A
|
p.Gly829Glu
|
- | 3.0 |
|
B | |
| 23452 | chr2 | 178785681 | G | T |
c.2432C>A
|
p.Thr811Lys
|
- | 3.0 |
|
B | |
| 32455 | chr2 | 178785921 | G | A |
c.2297C>T
|
p.Pro766Leu
|
- | 3.0 |
|
B | |
| 31124 | chr2 | 178789461 | T | C |
c.1975A>G
|
p.Ile659Val
|
3.0 |
|
B | ||
| 12805 | chr2 | 178790063 | G | A |
c.1853C>T
|
p.Pro618Leu
|
- | 3.0 |
|
B | |
| 16516 | chr2 | 178790752 | C | T |
c.1756G>A
|
p.Glu586Lys
|
- | 3.0 |
|
B | |
| 22548 | chr2 | 178794454 | T | A |
c.1343A>T
|
p.Gln448Leu
|
- | 3.0 |
|
B | |
| 22549 | chr2 | 178794455 | G | C |
c.1342C>G
|
p.Gln448Glu
|
- | 3.0 |
|
B | |
| 29175 | chr2 | 178794902 | C | A |
c.1245+20G>T
|
-
|
2.0 |
|
B | ||
| 29868 | chr2 | 178795184 | C | T |
c.983G>A
|
p.Arg328His
|
3.0 |
|
B | ||
| 23954 | chr2 | 178795208 | G | C |
c.959C>G
|
p.Ser320Cys
|
- | 3.0 |
|
B | |
| 13421 | chr2 | 178799468 | C | T |
c.914+19G>A
|
-
|
- | 3.0 |
|
B | |
| 15980 | chr2 | 178799493 | G | A |
c.908C>T
|
p.Pro303Leu
|
3.0 |
|
B |