Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 373 | chr10 | 87894057 | C | G |
c.112C>G
|
p.Pro38Ala
|
- | 3.0 |
|
A | |
| 23310 | chr10 | 87894066 | A | T |
c.121A>T
|
p.Arg41Ter
|
4.0 |
|
B | ||
| 2474 | chr10 | 87894081 | T | G |
c.136T>G
|
p.Tyr46Asp
|
3.0 |
|
B | ||
| 3824 | chr10 | 87894083 | C | G |
c.138C>G
|
p.Tyr46Ter
|
- | 4.0 |
|
B | |
| 10677 | chr10 | 87894088 | A | C |
c.143A>C
|
p.Asn48Thr
|
- | 3.5 |
|
B | |
| 2750 | chr10 | 87894088 | A | G |
c.143A>G
|
p.Asn48Ser
|
3.0 |
|
B | ||
| 20511 | chr10 | 87894094 | TTGA | T |
c.155_157del
|
p.Asp52del
|
4.0 |
|
B | ||
| 3311 | chr10 | 87894101 | TGTA | T |
c.160_162del
|
p.Val54del
|
3.5 |
|
B | ||
| 7857 | chr10 | 87925506 | TTTTAA | T |
c.165-6_165-2del
|
p.?
|
- | 4.0 |
|
B | |
| 27426 | chr10 | 87925524 | C | G |
c.176C>G
|
p.Ser59Ter
|
4.5 |
|
B | ||
| 7847 | chr10 | 87925531 | T | G |
c.183T>G
|
p.His61Gln
|
- | 3.0 |
|
B | |
| 25266 | chr10 | 87925546 | G | T |
c.198G>T
|
p.Lys66Asn
|
- | 3.5 |
|
B | |
| 18934 | chr10 | 87925550 | T | C |
c.202T>C
|
p.Tyr68His
|
4.0 |
|
B | ||
| 374 | chr10 | 87925551 | A | G |
c.203A>G
|
p.Tyr68Cys
|
4.33 |
|
A | ||
| 15881 | chr10 | 87925552 | C | G |
c.204C>G
|
p.Tyr68Ter
|
4.5 |
|
B | ||
| 1123 | chr10 | 87925556 | CTG | C |
c.209+1_209+2del
|
p.?
|
4.0 |
|
B | ||
| 375 | chr10 | 87925557 | TGTAA | T |
c.209+4_209+7del
|
-
|
5.0 |
|
A | ||
| 31867 | chr10 | 87925558 | G | T |
c.209+1G>T
|
p.?
|
4.5 |
|
B | ||
| 5547 | chr10 | 87925559 | T | A |
c.209+2T>A
|
p.?
|
4.0 |
|
B | ||
| 6717 | chr10 | 87925562 | G | A |
c.209+5G>A
|
-
|
3.5 |
|
B |