Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10307 | chr7 | 140778040 | G | A |
c.1468C>T
|
p.Pro490Ser
|
3.0 |
|
B | ||
| 9351 | chr7 | 140778043 | CTGTCACATT | C |
c.1456_1464del
|
p.Asn486_Thr488del
|
- | 3.5 |
|
B | |
| 3990 | chr7 | 140778061 | T | C |
c.1447A>G
|
p.Lys483Glu
|
3.0 |
|
B | ||
| 34308 | chr7 | 140778066 | G | T |
c.1442C>A
|
p.Ala481Glu
|
4.0 |
|
B | ||
| 18912 | chr7 | 140781591 | T | TG |
c.1416dup
|
p.Lys473GlnfsTer7
|
- | 3.0 |
|
B | |
| 12564 | chr7 | 140781602 | C | A |
c.1406G>T
|
p.Gly469Val
|
3.5 |
|
B | ||
| 328 | chr7 | 140781602 | C | G |
c.1406G>C
|
p.Gly469Ala
|
- |
|
B | ||
| 327 | chr7 | 140781602 | C | T |
c.1406G>A
|
p.Gly469Glu
|
4.5 |
|
B | ||
| 3216 | chr7 | 140781603 | C | T |
c.1405G>A
|
p.Gly469Arg
|
4.0 |
|
B | ||
| 2950 | chr7 | 140781611 | C | G |
c.1397G>C
|
p.Gly466Ala
|
4.0 |
|
B | ||
| 12026 | chr7 | 140781611 | C | T |
c.1397G>A
|
p.Gly466Glu
|
4.0 |
|
B | ||
| 12035 | chr7 | 140781617 | C | T |
c.1391G>A
|
p.Gly464Glu
|
4.0 |
|
B | ||
| 10651 | chr7 | 140781618 | C | T |
c.1390G>A
|
p.Gly464Arg
|
4.0 |
|
B | ||
| 29413 | chr7 | 140781651 | G | T |
c.1357C>A
|
p.Pro453Thr
|
- | 3.0 |
|
B | |
| 26 | chr7 | 140781675 | C | G |
c.1333G>C
|
p.Asp445His
|
- | 3.0 |
|
B | |
| 14778 | chr7 | 140783025 | C | T |
c.1310G>A
|
p.Arg437Gln
|
2.5 |
|
B | ||
| 21023 | chr7 | 140783133 | G | A |
c.1202C>T
|
p.Thr401Ile
|
- | 3.0 |
|
B | |
| 9557 | chr7 | 140783154 | G | A |
c.1181C>T
|
p.Ser394Leu
|
- | 3.0 |
|
B | |
| 18033 | chr7 | 140785739 | G | A |
c.1177+1809C>T
|
-
|
3.0 |
|
B | ||
| 25323 | chr7 | 140787541 | T | C |
c.1177+7A>G
|
-
|
3.0 |
|
B |