Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35533 | chr7 | 150951734 | G | A |
c.1659C>T
|
p.Leu553=
|
- | 3.0 |
|
B | |
| 30132 | chr7 | 150951756 | C | T |
c.1637G>A
|
p.Gly546Asp
|
- | 3.0 |
|
B | |
| 30187 | chr7 | 150952425 | C | T |
c.1557G>A
|
p.Glu519=
|
- | 3.0 |
|
B | |
| 17135 | chr7 | 150952427 | C | T |
c.1555G>A
|
p.Glu519Lys
|
- | 3.0 |
|
B | |
| 34101 | chr7 | 150952556 | C | T |
c.1426G>A
|
p.Val476Ile
|
3.0 |
|
B | ||
| 29096 | chr7 | 150952793 | G | A |
c.1189C>T
|
p.Arg397Cys
|
3.0 |
|
B | ||
| 16502 | chr7 | 150955491 | C | T |
c.1128+1800G>A
|
-
|
3.0 |
|
B | ||
| 22335 | chr7 | 150957353 | G | A |
c.1066C>T
|
p.Arg356Cys
|
3.0 |
|
B | ||
| 21470 | chr7 | 150957516 | C | A |
c.917-14G>T
|
-
|
3.0 |
|
B | ||
| 23392 | chr7 | 150957522 | G | A |
c.917-20C>T
|
-
|
3.0 |
|
B | ||
| 15090 | chr7 | 150958259 | G | A |
c.716C>T
|
p.Ser239Phe
|
- | 3.0 |
|
B | |
| 26446 | chr7 | 150958298 | C | A |
c.677G>T
|
p.Gly226Val
|
- | 3.0 |
|
B | |
| 19612 | chr7 | 150958366 | C | T |
c.609G>A
|
p.Ala203=
|
- | 3.0 |
|
B | |
| 23056 | chr7 | 150959577 | G | A |
c.467C>T
|
p.Ala156Val
|
- | 3.0 |
|
B | |
| 31061 | chr7 | 150959617 | G | T |
c.427C>A
|
p.His143Asn
|
- | 3.0 |
|
B | |
| 8299 | chr7 | 150974735 | C | A |
c.283G>T
|
p.Glu95Ter
|
- | 3.0 |
|
B | |
| 33022 | chr7 | 150974750 | C | T |
c.268G>A
|
p.Glu90Lys
|
3.0 |
|
B | ||
| 21418 | chr7 | 150977927 | G | C |
c.-14C>G
|
-
|
- | 3.0 |
|
B | |
| 23338 | chr7 | 151055013 | G | A |
-
-
c.650+14C>T
|
-
-
-
|
- | 3.0 |
|
B | |
| 27255 | chr7 | 151055380 | G | A |
-
-
c.484-7C>T
|
-
-
-
|
- | 3.0 |
|
B |