Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7436 | chr19 | 15254239 | C | T |
c.2071G>A
|
p.Gly691Ser
|
2.5 |
|
B | ||
| 21130 | chr19 | 15255479 | A | ATGTCC |
c.1860_1864dup
|
p.Ile622ArgfsTer25
|
- | 3.0 |
|
B | |
| 6958 | chr19 | 15255502 | C | G |
c.1842G>C
|
p.Glu614Asp
|
- | 3.0 |
|
B | |
| 21826 | chr19 | 15255611 | G | A |
c.1752-19C>T
|
-
|
3.0 |
|
B | ||
| 2887 | chr19 | 15256097 | G | A |
c.1718C>T
|
p.Thr573Met
|
3.0 |
|
B | ||
| 16982 | chr19 | 15256214 | T | C |
c.1601A>G
|
p.Asn534Ser
|
- | 3.0 |
|
B | |
| 27065 | chr19 | 15256949 | C | T |
c.1551+15G>A
|
-
|
3.0 |
|
B | ||
| 32118 | chr19 | 15256996 | G | A |
c.1519C>T
|
p.Arg507Ter
|
- | 3.0 |
|
B | |
| 7726 | chr19 | 15257104 | G | A |
c.1411C>T
|
p.Pro471Ser
|
- | 3.0 |
|
B | |
| 9047 | chr19 | 15257131 | C | A |
c.1384G>T
|
p.Glu462Ter
|
- | 3.0 |
|
B | |
| 16847 | chr19 | 15263425 | G | A |
c.1336C>T
|
p.Leu446Phe
|
3.0 |
|
B | ||
| 11959 | chr19 | 15264542 | G | C |
c.1074C>G
|
p.Ser358Arg
|
- | 3.0 |
|
B | |
| 26634 | chr19 | 15264549 | C | A |
c.1067G>T
|
p.Cys356Phe
|
- | 3.0 |
|
B | |
| 548 | chr19 | 15264583 | C | G |
c.1033G>C
|
p.Glu345Gln
|
- | 3.0 |
|
B | |
| 549 | chr19 | 15264620 | C | A |
c.996G>T
|
p.Lys332Asn
|
- | 3.0 |
|
B | |
| 672 | chr19 | 15264717 | A | G |
c.899T>C
|
p.Ile300Thr
|
3.0 |
|
B | ||
| 16848 | chr19 | 15264727 | G | A |
c.889C>T
|
p.Pro297Ser
|
- | 3.0 |
|
B | |
| 9174 | chr19 | 15264727 | G | T |
c.889C>A
|
p.Pro297Thr
|
- | 3.0 |
|
B | |
| 15307 | chr19 | 15264779 | C | G |
c.850-13G>C
|
-
|
- | 3.0 |
|
B | |
| 20581 | chr19 | 15267488 | C | A |
c.487G>T
|
p.Glu163Ter
|
- | 3.0 |
|
B |