Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24946 | chr15 | 87929276 | C | G |
c.2048G>C
|
p.Arg683Thr
|
- | 3.0 |
|
B | |
| 30874 | chr15 | 87929323 | C | T |
c.2001G>A
|
p.Met667Ile
|
- | 3.0 |
|
B | |
| 1848 | chr15 | 87929391 | G | A |
c.1933C>T
|
p.Arg645Cys
|
2.5 |
|
B | ||
| 29298 | chr15 | 87929444 | C | A |
c.1890-10G>T
|
-
|
- | 3.0 |
|
B | |
| 25132 | chr15 | 87929450 | G | A |
c.1890-16C>T
|
-
|
3.0 |
|
B | ||
| 16932 | chr15 | 87932999 | A | G |
c.1889+13T>C
|
-
|
- | 3.0 |
|
B | |
| 7740 | chr15 | 87933021 | T | G |
c.1880A>C
|
p.Lys627Thr
|
- | 3.0 |
|
B | |
| 35085 | chr15 | 87933102 | A | T |
c.1799T>A
|
p.Ile600Asn
|
- | 3.0 |
|
B | |
| 5092 | chr15 | 87933156 | C | T |
c.1745G>A
|
p.Arg582Gln
|
3.0 |
|
B | ||
| 3490 | chr15 | 87940646 | C | T |
c.1693G>A
|
p.Asp565Asn
|
- | 3.5 |
|
B | |
| 23525 | chr15 | 87940743 | G | T |
c.1596C>A
|
p.His532Gln
|
- | 3.0 |
|
B | |
| 14052 | chr15 | 87979356 | G | A |
c.1586-38603C>T
|
-
|
3.0 |
|
B | ||
| 20250 | chr15 | 87979480 | G | GA |
c.1586-38728dup
|
-
|
3.0 |
|
B | ||
| 30229 | chr15 | 87981214 | G | A |
c.1586-40461C>T
|
-
|
- | 3.0 |
|
B | |
| 15683 | chr15 | 87981226 | C | T |
c.1586-40473G>A
|
-
|
- | 3.0 |
|
B | |
| 15635 | chr15 | 87981304 | G | T |
c.1586-40551C>A
|
-
|
- | 3.0 |
|
B | |
| 11980 | chr15 | 88032849 | G | T |
c.1585+8C>A
|
-
|
- | 3.0 |
|
B | |
| 7361 | chr15 | 88032871 | T | C |
c.1571A>G
|
p.His524Arg
|
- | 3.0 |
|
B | |
| 19749 | chr15 | 88032926 | T | G |
c.1516A>C
|
p.Thr506Pro
|
- | 3.0 |
|
B | |
| 20465 | chr15 | 88033025 | C | A |
c.1417G>T
|
p.Gly473Cys
|
- | 3.0 |
|
B |