Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23813 | chr18 | 58366062 | C | T |
c.1897C>T
|
p.Arg633Trp
|
3.0 |
|
B | ||
| 16952 | chr18 | 58366237 | A | G |
c.2063+9A>G
|
-
|
2.0 |
|
B | ||
| 20419 | chr18 | 58367843 | G | A |
c.2161G>A
|
p.Val721Ile
|
2.0 |
|
B | ||
| 32347 | chr18 | 58373173 | G | T |
c.2257-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 31648 | chr18 | 58373252 | G | A |
c.2335G>A
|
p.Glu779Lys
|
- | 2.5 |
|
B | |
| 6459 | chr18 | 58389152 | G | T |
c.2615G>T
|
p.Gly872Val
|
- | 3.0 |
|
B | |
| 22109 | chr18 | 58389200 | C | T |
c.2655+8C>T
|
-
|
2.0 |
|
B | ||
| 6626 | chr18 | 58390679 | C | T |
c.2689C>T
|
p.Arg897Trp
|
- | 3.0 |
|
B | |
| 29772 | chr18 | 58391532 | CT | C |
c.2799del
|
p.Glu934ArgfsTer138
|
- | 3.0 |
|
B | |
| 10104 | chr18 | 58579211 | C | T |
c.1565G>A
|
p.Gly522Glu
|
- | 2.5 |
|
B | |
| 35060 | chr18 | 58579215 | C | T |
c.1561G>A
|
p.Gly521Arg
|
3.0 |
|
B | ||
| 11724 | chr18 | 58700583 | G | C |
c.641G>C
|
p.Ser214Thr
|
- | 3.0 |
|
B | |
| 12490 | chr18 | 58733559 | A | G |
c.1385A>G
|
p.Asp462Gly
|
- | 3.0 |
|
B | |
| 31593 | chr18 | 58741852 | T | A |
c.1604-13T>A
|
-
|
- | 3.0 |
|
B | |
| 32392 | chr18 | 58741949 | C | T |
c.1688C>T
|
p.Pro563Leu
|
3.0 |
|
B | ||
| 16650 | chr18 | 58745650 | A | AT |
c.1912-5dup
|
-
|
1.5 |
|
B | ||
| 20166 | chr18 | 58745650 | AT | A |
c.1912-5del
|
-
|
2.0 |
|
B | ||
| 21413 | chr18 | 58745717 | G | C |
c.1963G>C
|
p.Gly655Arg
|
- | 3.0 |
|
B | |
| 19781 | chr18 | 58747834 | G | GA |
c.2472dup
|
p.Ter825MetfsTer35
|
- | 3.0 |
|
B | |
| 10456 | chr18 | 59345961 | CT | C |
c.912del
|
p.Glu305ArgfsTer22
|
3.0 |
|
B |