Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30468 | chr2 | 62826079 | T | G |
c.313-8T>G
|
-
|
- | 3.0 |
|
B | |
| 34713 | chr2 | 62826219 | G | GT |
c.445_446insT
|
p.Ala149ValfsTer19
|
- | 3.0 |
|
B | |
| 34714 | chr2 | 62826220 | C | A |
c.446C>A
|
p.Ala149Asp
|
- | 3.0 |
|
B | |
| 25339 | chr2 | 62826282 | G | T |
c.494+14G>T
|
-
|
- | 3.0 |
|
B | |
| 13875 | chr2 | 62826284 | C | T |
c.494+16C>T
|
-
|
- | 3.0 |
|
B | |
| 13256 | chr2 | 62831125 | G | C |
c.601G>C
|
p.Val201Leu
|
- | 3.0 |
|
B | |
| 31144 | chr2 | 62874515 | C | G |
c.1168C>G
|
p.Leu390Val
|
- | 3.0 |
|
B | |
| 28453 | chr2 | 62943863 | G | T |
c.1413+13G>T
|
-
|
3.0 |
|
B | ||
| 15661 | chr2 | 62948422 | A | G |
c.1576A>G
|
p.Ser526Gly
|
- | 3.0 |
|
B | |
| 24980 | chr2 | 62948490 | A | T |
c.1644A>T
|
p.Lys548Asn
|
- | 3.0 |
|
B | |
| 16184 | chr2 | 62948877 | C | CT |
c.2034dup
|
p.Ile679TyrfsTer3
|
- | 3.0 |
|
B | |
| 14086 | chr2 | 62949103 | G | C |
c.2257G>C
|
p.Asp753His
|
- | 3.0 |
|
B | |
| 32487 | chr2 | 62949139 | G | T |
c.2293G>T
|
p.Asp765Tyr
|
- | 3.0 |
|
B | |
| 34558 | chr2 | 62955582 | A | C |
c.2382A>C
|
p.Arg794Ser
|
- | 3.0 |
|
B | |
| 19537 | chr2 | 62979216 | TGA | T |
c.2499_2500del
|
p.Arg833SerfsTer22
|
3.0 |
|
B | ||
| 15927 | chr2 | 62979310 | G | C |
c.2583G>C
|
p.Leu861Phe
|
- | 3.0 |
|
B | |
| 9887 | chr2 | 62990748 | A | G |
c.2641A>G
|
p.Lys881Glu
|
- | 3.0 |
|
B | |
| 29436 | chr2 | 62990775 | G | T |
c.2668G>T
|
p.Val890Leu
|
3.0 |
|
B | ||
| 19384 | chr2 | 62993857 | CT | C |
c.2873-4del
|
-
|
3.0 |
|
B | ||
| 23974 | chr2 | 62996733 | G | GT |
c.3071dup
|
p.Glu1025GlyfsTer29
|
- | 3.0 |
|
B |