Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27059 | chr2 | 29320760 | C | T |
c.1537G>A
|
p.Asp513Asn
|
- | 3.0 |
|
B | |
| 22035 | chr2 | 29320768 | C | A |
c.1529G>T
|
p.Arg510Leu
|
- | 3.0 |
|
B | |
| 20587 | chr2 | 29320790 | C | T |
c.1507G>A
|
p.Val503Ile
|
3.0 |
|
B | ||
| 6252 | chr2 | 29320824 | T | G |
c.1473A>C
|
p.Gln491His
|
- | 3.0 |
|
B | |
| 14910 | chr2 | 29320861 | TA | T |
c.1435del
|
p.Tyr479ThrfsTer28
|
- | 3.0 |
|
B | |
| 5612 | chr2 | 29320867 | C | T |
c.1430G>A
|
p.Gly477Asp
|
- | 3.0 |
|
B | |
| 21141 | chr2 | 29320888 | G | A |
c.1415-6C>T
|
-
|
2.0 |
|
B | ||
| 21493 | chr2 | 29328352 | C | T |
c.1412G>A
|
p.Cys471Tyr
|
- | 3.0 |
|
B | |
| 14911 | chr2 | 29328425 | T | C |
c.1339A>G
|
p.Thr447Ala
|
- | 3.0 |
|
B | |
| 9221 | chr2 | 29328463 | T | C |
c.1301A>G
|
p.Lys434Arg
|
3.0 |
|
B | ||
| 14178 | chr2 | 29328473 | G | A |
c.1291C>T
|
p.Pro431Ser
|
3.0 |
|
B | ||
| 32601 | chr2 | 29383731 | C | T |
c.1282+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 7379 | chr2 | 29383779 | C | A |
c.1235G>T
|
p.Arg412Leu
|
3.0 |
|
B | ||
| 17002 | chr2 | 29532095 | G | T |
c.974C>A
|
p.Thr325Asn
|
- | 3.0 |
|
B | |
| 16999 | chr2 | 29694858 | A | G |
c.944T>C
|
p.Met315Thr
|
3.0 |
|
B | ||
| 35637 | chr2 | 29694867 | G | T |
c.935C>A
|
p.Ser312Tyr
|
3.0 |
|
B | ||
| 35301 | chr2 | 29694916 | C | T |
c.886G>A
|
p.Glu296Lys
|
2.0 |
|
B | ||
| 19038 | chr2 | 29694927 | C | T |
c.875G>A
|
p.Arg292His
|
2.5 |
|
B | ||
| 10784 | chr2 | 29694936 | G | A |
c.866C>T
|
p.Ser289Phe
|
3.0 |
|
B | ||
| 9179 | chr2 | 29694941 | G | T |
c.861C>A
|
p.Ser287Arg
|
- | 3.0 |
|
B |