Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2279 | chr1 | 158620448 | C | T |
c.6139G>A
|
p.Glu2047Lys
|
- | 3.0 |
|
B | |
| 19518 | chr1 | 158620476 | GA | G |
c.6121-11del
|
-
|
2.0 |
|
B | ||
| 1902 | chr1 | 158623011 | A | G |
c.6092T>C
|
p.Leu2031Ser
|
3.0 |
|
B | ||
| 22218 | chr1 | 158623056 | C | T |
c.6047G>A
|
p.Arg2016His
|
3.0 |
|
B | ||
| 9543 | chr1 | 158623071 | G | A |
c.6032C>T
|
p.Ala2011Val
|
3.0 |
|
B | ||
| 8898 | chr1 | 158623117 | T | G |
c.5986A>C
|
p.Ile1996Leu
|
- | 3.0 |
|
B | |
| 662 | chr1 | 158623144 | C | T |
c.5959G>A
|
p.Glu1987Lys
|
3.0 |
|
B | ||
| 5922 | chr1 | 158623168 | T | A |
c.5935A>T
|
p.Ser1979Cys
|
- | 3.0 |
|
B | |
| 26784 | chr1 | 158623206 | G | A |
c.5911-14C>T
|
-
|
3.0 |
|
B | ||
| 20571 | chr1 | 158626153 | G | T |
c.5903C>A
|
p.Ala1968Glu
|
- | 3.0 |
|
B | |
| 32918 | chr1 | 158626186 | C | T |
c.5870G>A
|
p.Gly1957Asp
|
3.0 |
|
B | ||
| 23798 | chr1 | 158626893 | C | T |
c.5779G>A
|
p.Asp1927Asn
|
3.0 |
|
B | ||
| 8363 | chr1 | 158626916 | G | A |
c.5756C>T
|
p.Ala1919Val
|
- | 3.0 |
|
B | |
| 6704 | chr1 | 158626926 | C | T |
c.5746G>A
|
p.Ala1916Thr
|
- | 3.0 |
|
B | |
| 30934 | chr1 | 158626979 | T | A |
c.5693A>T
|
p.Glu1898Val
|
- | 3.0 |
|
B | |
| 6349 | chr1 | 158627009 | T | A |
c.5665-2A>T
|
p.?
|
- | 3.0 |
|
B | |
| 29090 | chr1 | 158627018 | G | T |
c.5665-11C>A
|
-
|
- | 3.0 |
|
B | |
| 30042 | chr1 | 158627605 | G | C |
c.5664+20C>G
|
-
|
- | 3.0 |
|
B | |
| 21583 | chr1 | 158627610 | C | T |
c.5664+15G>A
|
-
|
- | 3.0 |
|
B | |
| 10513 | chr1 | 158627735 | A | C |
c.5566-12T>G
|
-
|
- | 3.0 |
|
B |