Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28370 | chr6 | 7569235 | G | A |
c.1469G>A
|
p.Arg490His
|
2.5 |
|
B | ||
| 21221 | chr6 | 7570524 | G | A |
c.1662G>A
|
p.Met554Ile
|
- | 3.0 |
|
B | |
| 32372 | chr6 | 7570528 | G | A |
c.1666G>A
|
p.Asp556Asn
|
- | 3.0 |
|
B | |
| 27746 | chr6 | 7570558 | G | A |
c.1696G>A
|
p.Ala566Thr
|
2.0 |
|
B | ||
| 26331 | chr6 | 7570564 | G | A |
c.1701+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 31503 | chr6 | 7571498 | G | A |
c.1817G>A
|
p.Arg606Gln
|
2.5 |
|
B | ||
| 19873 | chr6 | 7574636 | TG | T |
c.2298-20del
|
-
|
- | 3.0 |
|
B | |
| 9896 | chr6 | 7575361 | G | T |
c.2503G>T
|
p.Ala835Ser
|
- | 3.0 |
|
B | |
| 33178 | chr6 | 7576291 | C | A |
c.2631-3C>A
|
-
|
- | 3.0 |
|
B | |
| 23238 | chr6 | 7576338 | G | A |
c.2675G>A
|
p.Arg892His
|
2.5 |
|
B | ||
| 25408 | chr6 | 7576986 | C | T |
c.2821C>T
|
p.Arg941Ter
|
3.0 |
|
B | ||
| 19593 | chr6 | 7577007 | CA | C |
c.2848del
|
p.Ile950LeufsTer27
|
3.0 |
|
B | ||
| 34895 | chr6 | 7578467 | G | A |
c.2989G>A
|
p.Ala997Thr
|
3.0 |
|
B | ||
| 15489 | chr6 | 7578483 | G | A |
c.3005G>A
|
p.Arg1002Gln
|
2.0 |
|
B | ||
| 16537 | chr6 | 7579300 | T | C |
c.3110T>C
|
p.Leu1037Ser
|
- | 3.0 |
|
B | |
| 30829 | chr6 | 7579821 | G | A |
c.3631G>A
|
p.Glu1211Lys
|
- | 3.0 |
|
B | |
| 26924 | chr6 | 7579918 | C | T |
c.3728C>T
|
p.Ser1243Leu
|
- | 3.0 |
|
B | |
| 12658 | chr6 | 7580164 | A | T |
c.3974A>T
|
p.Lys1325Met
|
- | 3.0 |
|
B | |
| 20924 | chr6 | 7580460 | A | C |
c.4270A>C
|
p.Arg1424=
|
2.0 |
|
B | ||
| 30778 | chr6 | 7580601 | G | T |
c.4411G>T
|
p.Asp1471Tyr
|
- | 3.0 |
|
B |