Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32937 | chr10 | 43112924 | G | A |
c.1720G>A
|
p.Glu574Lys
|
- | 3.0 |
|
B | |
| 15546 | chr10 | 43112983 | G | A |
c.1759+20G>A
|
-
|
- | 3.0 |
|
B | |
| 22348 | chr10 | 43113639 | G | A |
c.1843G>A
|
p.Glu615Lys
|
3.0 |
|
B | ||
| 7448 | chr10 | 43113642 | G | A |
c.1846G>A
|
p.Glu616Lys
|
2.5 |
|
B | ||
| 27806 | chr10 | 43113688 | C | T |
c.1879+13C>T
|
-
|
2.0 |
|
B | ||
| 19078 | chr10 | 43114564 | T | G |
c.1964T>G
|
p.Phe655Cys
|
- | 3.0 |
|
B | |
| 12431 | chr10 | 43114671 | G | A |
c.2071G>A
|
p.Gly691Ser
|
1.0 |
|
B | ||
| 1690 | chr10 | 43114674 | G | T |
c.2074G>T
|
p.Ala692Ser
|
- | 3.0 |
|
B | |
| 30620 | chr10 | 43114684 | C | T |
c.2084C>T
|
p.Pro695Leu
|
- | 3.0 |
|
B | |
| 17318 | chr10 | 43116584 | G | A |
c.2137G>A
|
p.Glu713Lys
|
- | 3.0 |
|
B | |
| 8350 | chr10 | 43116609 | G | A |
c.2162G>A
|
p.Arg721Gln
|
3.0 |
|
B | ||
| 12634 | chr10 | 43116619 | G | T |
c.2172G>T
|
p.Leu724Phe
|
- | 3.0 |
|
B | |
| 1394 | chr10 | 43118385 | C | T |
c.2297C>T
|
p.Pro766Leu
|
3.0 |
|
B | ||
| 5515 | chr10 | 43118481 | G | T |
c.2392+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 13093 | chr10 | 43118484 | A | C |
c.2392+4A>C
|
-
|
- | 3.0 |
|
B | |
| 26880 | chr10 | 43118496 | G | T |
c.2392+16G>T
|
-
|
- | 3.0 |
|
B | |
| 22994 | chr10 | 43119510 | GCCCCCTCTCTCCGCCCCCAGGC | G |
c.2393-18_2396del
|
p.?
|
- | 3.0 |
|
B | |
| 2313 | chr10 | 43119526 | C | A |
c.2393-5C>A
|
-
|
2.5 |
|
B | ||
| 21230 | chr10 | 43119566 | G | A |
c.2428G>A
|
p.Gly810Ser
|
3.0 |
|
B | ||
| 34612 | chr10 | 43119585 | T | C |
c.2447T>C
|
p.Leu816Pro
|
- | 3.0 |
|
B |