Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24992 | chr13 | 32332889 | G | T |
c.1411G>T
|
p.Glu471Ter
|
4.0 |
|
B | ||
| 4327 | chr13 | 32332922 | C | T |
c.1444C>T
|
p.Leu482Phe
|
2.5 |
|
B | ||
| 28814 | chr13 | 32332973 | C | T |
c.1495C>T
|
p.Gln499Ter
|
4.5 |
|
B | ||
| 21534 | chr13 | 32332977 | G | A |
c.1499G>A
|
p.Gly500Asp
|
2.5 |
|
B | ||
| 17390 | chr13 | 32333022 | C | T |
c.1544C>T
|
p.Thr515Ile
|
2.0 |
|
B | ||
| 704 | chr13 | 32333115 | G | C |
c.1637G>C
|
p.Cys546Ser
|
- | 3.0 |
|
B | |
| 35340 | chr13 | 32333233 | G | T |
c.1755G>T
|
p.Lys585Asn
|
2.5 |
|
B | ||
| 6095 | chr13 | 32333283 | G | GA |
c.1813dup
|
p.Ile605AsnfsTer11
|
4.5 |
|
B | ||
| 24723 | chr13 | 32333283 | GA | G |
c.1813del
|
p.Ile605TyrfsTer9
|
4.5 |
|
B | ||
| 6829 | chr13 | 32333333 | C | T |
c.1855C>T
|
p.Gln619Ter
|
4.5 |
|
B | ||
| 19889 | chr13 | 32333398 | CTTT | C |
c.1909+20_1909+22del
|
-
|
- | 3.0 |
|
B | |
| 19093 | chr13 | 32336416 | T | G |
c.2061T>G
|
p.Asp687Glu
|
- | 3.0 |
|
B | |
| 32950 | chr13 | 32336609 | G | T |
c.2254G>T
|
p.Asp752Tyr
|
- | 3.0 |
|
B | |
| 24047 | chr13 | 32336835 | A | C |
c.2480A>C
|
p.Asn827Thr
|
- | 3.0 |
|
B | |
| 32839 | chr13 | 32336861 | C | T |
c.2506C>T
|
p.Pro836Ser
|
2.0 |
|
B | ||
| 3836 | chr13 | 32337019 | TA | T |
c.2666del
|
p.Asn889IlefsTer6
|
- | 4.0 |
|
B | |
| 6788 | chr13 | 32337315 | A | G |
c.2960A>G
|
p.Asn987Ser
|
2.5 |
|
B | ||
| 26360 | chr13 | 32337399 | A | T |
c.3044A>T
|
p.Lys1015Met
|
- | 3.0 |
|
B | |
| 4328 | chr13 | 32337455 | A | ATCT |
c.3101_3102insCTT
|
p.Ile1034_Glu1035insPhe
|
- | 3.0 |
|
B | |
| 8722 | chr13 | 32337732 | A | T |
c.3377A>T
|
p.Glu1126Val
|
- | 3.0 |
|
B |