Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10971 | chr5 | 35871088 | G | A |
c.412G>A
|
p.Val138Ile
|
1.0 |
|
B | ||
| 3997 | chr5 | 35871094 | C | T |
c.418C>T
|
p.Arg140Trp
|
3.0 |
|
B | ||
| 21054 | chr5 | 35873559 | G | A |
c.617G>A
|
p.Arg206Gln
|
3.0 |
|
B | ||
| 20526 | chr5 | 35873665 | G | A |
c.706+17G>A
|
-
|
- | 3.0 |
|
B | |
| 6492 | chr5 | 35874512 | T | C |
c.770T>C
|
p.Val257Ala
|
- | 3.0 |
|
B | |
| 14402 | chr5 | 35874524 | G | A |
c.782G>A
|
p.Cys261Tyr
|
3.0 |
|
B | ||
| 35484 | chr5 | 35874542 | G | T |
c.800G>T
|
p.Arg267Met
|
- | 3.0 |
|
B | |
| 19266 | chr5 | 35875509 | C | G |
c.801-3C>G
|
-
|
- | 3.0 |
|
B | |
| 2620 | chr5 | 35875525 | G | A |
c.814G>A
|
p.Val272Ile
|
3.0 |
|
B | ||
| 14322 | chr5 | 35875532 | C | T |
c.821C>T
|
p.Pro274Leu
|
- | 3.0 |
|
B | |
| 16148 | chr5 | 35875550 | A | T |
c.839A>T
|
p.Lys280Met
|
- | 3.0 |
|
B | |
| 6344 | chr5 | 35875982 | G | A |
c.877-1G>A
|
p.?
|
3.0 |
|
B | ||
| 35231 | chr5 | 35876185 | G | T |
c.1079G>T
|
p.Ser360Ile
|
- | 3.0 |
|
B | |
| 1097 | chr5 | 35876266 | C | T |
c.1160C>T
|
p.Ser387Phe
|
- | 3.0 |
|
B | |
| 5690 | chr5 | 35876290 | A | G |
c.1184A>G
|
p.Lys395Arg
|
- | 3.0 |
|
B | |
| 21269 | chr5 | 35876411 | G | C |
c.1305G>C
|
p.Gln435His
|
- | 3.0 |
|
B | |
| 27757 | chr5 | 35876431 | G | T |
c.1325G>T
|
p.Gly442Val
|
- | 3.0 |
|
B | |
| 12161 | chr5 | 35876445 | G | A |
c.1339G>A
|
p.Glu447Lys
|
- | 3.0 |
|
B | |
| 19583 | chr5 | 36984980 | TA | T |
c.1808del
|
p.Lys603SerfsTer11
|
3.0 |
|
B | ||
| 8075 | chr5 | 38481620 | A | AC |
c.3268_3269insG
|
p.Phe1090CysfsTer22
|
- | 3.0 |
|
B |