Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15963 | chr2 | 178712425 | G | A |
c.27497C>T
|
p.Ser9166Leu
|
3.0 |
|
B | ||
| 25043 | chr2 | 178712432 | C | T |
c.27490G>A
|
p.Glu9164Lys
|
- | 3.0 |
|
B | |
| 11385 | chr2 | 178712546 | C | T |
c.27376G>A
|
p.Gly9126Arg
|
- | 3.0 |
|
B | |
| 25044 | chr2 | 178712592 | G | A |
c.27330C>T
|
p.Ala9110=
|
- | 3.0 |
|
B | |
| 21181 | chr2 | 178713112 | C | A |
c.27022G>T
|
p.Glu9008Ter
|
- | 3.0 |
|
B | |
| 25491 | chr2 | 178713120 | C | G |
c.27014G>C
|
p.Gly9005Ala
|
- | 3.0 |
|
B | |
| 8309 | chr2 | 178713153 | C | T |
c.26981G>A
|
p.Gly8994Asp
|
- | 3.0 |
|
B | |
| 32362 | chr2 | 178713229 | C | T |
c.26905G>A
|
p.Gly8969Arg
|
- | 3.0 |
|
B | |
| 30271 | chr2 | 178713250 | C | T |
c.26884G>A
|
p.Glu8962Lys
|
- | 3.0 |
|
B | |
| 26792 | chr2 | 178713318 | G | A |
c.26816C>T
|
p.Ser8939Phe
|
- | 3.0 |
|
B | |
| 20523 | chr2 | 178713927 | C | T |
c.26731G>A
|
p.Asp8911Asn
|
- | 3.0 |
|
B | |
| 20286 | chr2 | 178713940 | GT | G |
c.26717del
|
p.Asn8906ThrfsTer27
|
- | 3.0 |
|
B | |
| 11707 | chr2 | 178713994 | C | G |
c.26664G>C
|
p.Lys8888Asn
|
- | 3.0 |
|
B | |
| 13294 | chr2 | 178713995 | T | G |
c.26663A>C
|
p.Lys8888Thr
|
- | 3.0 |
|
B | |
| 14441 | chr2 | 178714047 | T | G |
c.26611A>C
|
p.Thr8871Pro
|
- | 3.0 |
|
B | |
| 16311 | chr2 | 178714453 | C | T |
c.26321G>A
|
p.Gly8774Glu
|
- | 3.0 |
|
B | |
| 22266 | chr2 | 178714544 | C | T |
c.26230G>A
|
p.Asp8744Asn
|
- | 3.0 |
|
B | |
| 14792 | chr2 | 178714555 | T | C |
c.26219A>G
|
p.Lys8740Arg
|
- | 3.0 |
|
B | |
| 15509 | chr2 | 178714981 | C | A |
c.26200+5G>T
|
-
|
- | 3.0 |
|
B | |
| 18208 | chr2 | 178715246 | T | C |
c.25940A>G
|
p.Lys8647Arg
|
- | 3.0 |
|
B |