Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26868 | chr3 | 49896028 | C | A |
c.2729G>T
|
p.Arg910Leu
|
- | 3.0 |
|
B | |
| 30732 | chr3 | 49896569 | G | A |
c.2410C>T
|
p.His804Tyr
|
- | 3.0 |
|
B | |
| 18424 | chr3 | 49896642 | G | A |
c.2346-9C>T
|
-
|
- | 3.0 |
|
B | |
| 17542 | chr3 | 49896809 | AC | A |
c.2264del
|
p.Gly755ValfsTer19
|
3.0 |
|
B | ||
| 14190 | chr3 | 49896831 | G | A |
c.2243C>T
|
p.Pro748Leu
|
- | 3.0 |
|
B | |
| 22614 | chr3 | 49896897 | G | A |
c.2184-7C>T
|
-
|
3.0 |
|
B | ||
| 34940 | chr3 | 49897591 | C | T |
c.1975G>A
|
p.Val659Met
|
3.0 |
|
B | ||
| 26907 | chr3 | 49897603 | C | T |
c.1963G>A
|
p.Val655Ile
|
2.5 |
|
B | ||
| 27582 | chr3 | 49898039 | A | G |
c.1880+12T>C
|
-
|
3.0 |
|
B | ||
| 15342 | chr3 | 49898917 | G | A |
c.1498C>T
|
p.Arg500Trp
|
3.0 |
|
B | ||
| 34057 | chr3 | 49899096 | T | G |
c.1398A>C
|
p.Thr466=
|
- | 3.0 |
|
B | |
| 13057 | chr3 | 49899119 | C | T |
c.1375G>A
|
p.Val459Ile
|
3.0 |
|
B | ||
| 21813 | chr3 | 49902400 | G | A |
c.1210C>T
|
p.Pro404Ser
|
- | 3.0 |
|
B | |
| 26249 | chr3 | 49902534 | C | T |
c.1076G>A
|
p.Gly359Asp
|
- | 3.0 |
|
B | |
| 17569 | chr3 | 49902628 | G | A |
c.982C>T
|
p.Pro328Ser
|
3.0 |
|
B | ||
| 14867 | chr3 | 49902633 | G | A |
c.977C>T
|
p.Ser326Phe
|
- | 3.0 |
|
B | |
| 31439 | chr3 | 49902880 | A | G |
c.730T>C
|
p.Ser244Pro
|
- | 3.0 |
|
B | |
| 26078 | chr3 | 49902926 | G | A |
c.684C>T
|
p.Phe228=
|
3.0 |
|
B | ||
| 18751 | chr3 | 49902932 | C | T |
c.678G>A
|
p.Ser226=
|
3.0 |
|
B | ||
| 21844 | chr3 | 49903032 | T | C |
c.578A>G
|
p.Gln193Arg
|
- | 3.0 |
|
B |