Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32894 | chr3 | 89450322 | T | G |
c.2642T>G
|
p.Leu881Arg
|
- | 3.0 |
|
B | |
| 10497 | chr3 | 89472448 | G | GT |
c.2691-8dup
|
-
|
3.0 |
|
B | ||
| 31727 | chr3 | 89472451 | T | C |
c.2691-13T>C
|
-
|
- | 3.0 |
|
B | |
| 25618 | chr3 | 89472469 | C | T |
c.2696C>T
|
p.Ser899Leu
|
- | 3.0 |
|
B | |
| 14519 | chr3 | 89472478 | T | C |
c.2705T>C
|
p.Leu902Pro
|
- | 3.0 |
|
B | |
| 24159 | chr3 | 89472592 | G | T |
c.2819G>T
|
p.Cys940Phe
|
- | 3.0 |
|
B | |
| 20299 | chr3 | 89472624 | GA | G |
c.2846+14del
|
-
|
3.0 |
|
B | ||
| 34222 | chr3 | 89479385 | C | CT |
c.2847-5dup
|
-
|
- | 3.0 |
|
B | |
| 17159 | chr3 | 89479385 | CT | C |
c.2847-5del
|
-
|
3.0 |
|
B | ||
| 3880 | chr3 | 89479413 | G | T |
c.2863G>T
|
p.Gly955Cys
|
- | 3.0 |
|
B | |
| 17094 | chr3 | 89479422 | G | A |
c.2872G>A
|
p.Val958Met
|
3.0 |
|
B | ||
| 8216 | chr3 | 89479443 | A | T |
c.2893A>T
|
p.Ile965Phe
|
- | 3.0 |
|
B | |
| 14774 | chr3 | 89479471 | C | T |
c.2921C>T
|
p.Thr974Met
|
3.0 |
|
B | ||
| 16360 | chr3 | 89479479 | A | C |
c.2929A>C
|
p.Lys977Gln
|
- | 3.0 |
|
B | |
| 4999 | chr3 | 97592737 | G | A |
c.2512G>A
|
p.Gly838Ser
|
3.0 |
|
B | ||
| 4646 | chr3 | 97874550 | G | A |
c.3356G>A
|
p.Gly1119Glu
|
- | 3.0 |
|
B | |
| 11123 | chr3 | 98034991 | T | G |
c.-2-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 2868 | chr3 | 98133151 | G | C |
c.454G>C
|
p.Gly152Arg
|
3.0 |
|
B | ||
| 3570 | chr3 | 99795390 | CCAGG | C |
c.1490_1493del
|
p.Pro497LeufsTer35
|
- | 3.0 |
|
B | |
| 3571 | chr3 | 99795405 | A | ATACC |
c.1505_1506insACCT
|
p.Gly503ProfsTer5
|
- | 3.0 |
|
B |