Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13596 | chr18 | 32680495 | G | A |
c.1343C>T
|
p.Thr448Met
|
3.0 |
|
B | ||
| 13099 | chr18 | 33333178 | AT | A |
c.874del
|
p.Met292TrpfsTer3
|
3.0 |
|
B | ||
| 26585 | chr18 | 36109633 | G | A |
c.2228C>T
|
p.Ser743Phe
|
- | 3.0 |
|
B | |
| 19829 | chr18 | 36109749 | TA | T |
c.2116-5del
|
-
|
3.0 |
|
B | ||
| 16211 | chr18 | 36111076 | C | A |
c.2098G>T
|
p.Val700Phe
|
- | 3.0 |
|
B | |
| 9841 | chr18 | 36112579 | C | CA |
c.1845dup
|
p.Ala616CysfsTer5
|
- | 3.0 |
|
B | |
| 28789 | chr18 | 36123583 | C | T |
c.1052G>A
|
p.Arg351Gln
|
3.0 |
|
B | ||
| 31791 | chr18 | 36124534 | T | C |
c.956A>G
|
p.Tyr319Cys
|
3.0 |
|
B | ||
| 35481 | chr18 | 36126283 | T | A |
-
c.725A>T
|
-
p.Glu242Val
|
- | 3.0 |
|
B | |
| 7292 | chr18 | 36126640 | T | G |
-
c.368A>C
|
-
p.His123Pro
|
- | 3.0 |
|
B | |
| 17976 | chr18 | 36126796 | G | A |
-
c.212C>T
|
-
p.Ser71Leu
|
- | 3.0 |
|
B | |
| 33532 | chr18 | 36126850 | C | T |
-
c.158G>A
|
-
p.Arg53Gln
|
3.0 |
|
B | ||
| 17398 | chr18 | 36126947 | G | A |
-
c.61C>T
|
-
p.Leu21Phe
|
- | 3.0 |
|
B | |
| 26347 | chr18 | 36126965 | G | A |
-
c.43C>T
|
-
p.Leu15Phe
|
3.0 |
|
B | ||
| 33506 | chr18 | 36129956 | C | T |
c.23C>T
-
|
p.Thr8Ile
-
|
- | 3.0 |
|
B | |
| 31735 | chr18 | 41955273 | T | C |
c.-19T>C
|
-
|
- | 3.0 |
|
B | |
| 31464 | chr18 | 41955352 | C | G |
c.61C>G
|
p.Leu21Val
|
- | 3.0 |
|
B | |
| 2726 | chr18 | 41957682 | T | G |
c.181T>G
|
p.Cys61Gly
|
- | 3.0 |
|
B | |
| 30201 | chr18 | 41957707 | C | T |
c.206C>T
|
p.Pro69Leu
|
3.0 |
|
B | ||
| 10842 | chr18 | 41970343 | A | T |
c.418A>T
|
p.Met140Leu
|
- | 3.0 |
|
B |