Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33120 | chr17 | 7674233 | C | A |
c.730G>T
|
p.Gly244Cys
|
4.0 |
|
B | ||
| 7903 | chr17 | 7674233 | C | T |
c.730G>A
|
p.Gly244Ser
|
4.0 |
|
B | ||
| 13976 | chr17 | 7674237 | G | T |
c.726C>A
|
p.Cys242Ter
|
- | 4.5 |
|
B | |
| 882 | chr17 | 7674238 | C | A |
c.725G>T
|
p.Cys242Phe
|
3.5 |
|
B | ||
| 1325 | chr17 | 7674239 | A | G |
c.724T>C
|
p.Cys242Arg
|
3.5 |
|
B | ||
| 11377 | chr17 | 7674239 | AG | A |
c.723del
|
p.Cys242AlafsTer5
|
- | 4.5 |
|
B | |
| 1396 | chr17 | 7674241 | G | A |
c.722C>T
|
p.Ser241Phe
|
4.0 |
|
B | ||
| 7589 | chr17 | 7674241 | G | T |
c.722C>A
|
p.Ser241Tyr
|
4.0 |
|
B | ||
| 13715 | chr17 | 7674241 | GAACTGTTAC | G |
c.713_721del
|
p.Cys238_Ser240del
|
- | 3.5 |
|
B | |
| 25142 | chr17 | 7674243 | A | T |
c.720T>A
|
p.Ser240Arg
|
- | 3.5 |
|
B | |
| 5282 | chr17 | 7674246 | G | T |
c.717C>A
|
p.Asn239Lys
|
- | 3.0 |
|
B | |
| 26006 | chr17 | 7674247 | T | A |
c.716A>T
|
p.Asn239Ile
|
- | 3.5 |
|
B | |
| 16281 | chr17 | 7674247 | T | C |
c.716A>G
|
p.Asn239Ser
|
4.0 |
|
B | ||
| 5283 | chr17 | 7674247 | T | G |
c.716A>C
|
p.Asn239Thr
|
4.0 |
|
B | ||
| 13318 | chr17 | 7674249 | A | C |
c.714T>G
|
p.Cys238Trp
|
4.0 |
|
B | ||
| 2753 | chr17 | 7674250 | C | A |
c.713G>T
|
p.Cys238Phe
|
4.0 |
|
B | ||
| 5618 | chr17 | 7674250 | C | G |
c.713G>C
|
p.Cys238Ser
|
3.5 |
|
B | ||
| 3060 | chr17 | 7674250 | C | T |
c.713G>A
|
p.Cys238Tyr
|
4.0 |
|
B | ||
| 33425 | chr17 | 7674251 | A | G |
c.712T>C
|
p.Cys238Arg
|
3.5 |
|
B | ||
| 2997 | chr17 | 7674252 | C | T |
c.711G>A
|
p.Met237Ile
|
4.0 |
|
B |