Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28840 | chr17 | 7674253 | A | T |
c.710T>A
|
p.Met237Lys
|
3.5 |
|
B | ||
| 2347 | chr17 | 7674254 | T | C |
c.709A>G
|
p.Met237Val
|
3.5 |
|
B | ||
| 10864 | chr17 | 7674254 | TG | T |
c.708del
|
p.Tyr236Ter
|
- | 4.0 |
|
B | |
| 10703 | chr17 | 7674254 | TGTA | T |
c.706_708del
|
p.Tyr236del
|
- | 4.0 |
|
B | |
| 10219 | chr17 | 7674255 | G | C |
c.708C>G
|
p.Tyr236Ter
|
- | 4.5 |
|
B | |
| 25586 | chr17 | 7674255 | G | T |
c.708C>A
|
p.Tyr236Ter
|
- | 5.0 |
|
B | |
| 18876 | chr17 | 7674256 | T | C |
c.707A>G
|
p.Tyr236Cys
|
4.0 |
|
B | ||
| 10150 | chr17 | 7674257 | A | C |
c.706T>G
|
p.Tyr236Asp
|
3.5 |
|
B | ||
| 9443 | chr17 | 7674257 | A | G |
c.706T>C
|
p.Tyr236His
|
4.0 |
|
B | ||
| 8239 | chr17 | 7674260 | T | C |
c.703A>G
|
p.Asn235Asp
|
3.5 |
|
B | ||
| 484 | chr17 | 7674262 | T | C |
c.701A>G
|
p.Tyr234Cys
|
4.0 |
|
B | ||
| 15868 | chr17 | 7674263 | A | C |
c.700T>G
|
p.Tyr234Asp
|
4.0 |
|
B | ||
| 10151 | chr17 | 7674263 | A | G |
c.700T>C
|
p.Tyr234His
|
3.5 |
|
B | ||
| 2703 | chr17 | 7674263 | A | T |
c.700T>A
|
p.Tyr234Asn
|
3.5 |
|
B | ||
| 31134 | chr17 | 7674269 | T | A |
c.694A>T
|
p.Ile232Phe
|
- | 3.5 |
|
B | |
| 2447 | chr17 | 7674275 | TAC | T |
c.686_687del
|
p.Cys229TyrfsTer10
|
4.5 |
|
B | ||
| 2317 | chr17 | 7674276 | A | T |
c.687T>A
|
p.Cys229Ter
|
- | 4.5 |
|
B | |
| 3993 | chr17 | 7674276 | ACAGT | A |
c.683_686del
|
p.Asp228ValfsTer18
|
- | 4.0 |
|
B | |
| 15474 | chr17 | 7674277 | C | T |
c.686G>A
|
p.Cys229Tyr
|
- |
|
B | ||
| 8090 | chr17 | 7674281 | C | CA |
c.681dup
|
p.Asp228Ter
|
4.5 |
|
B |