Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20644 | chr2 | 178715510 | G | A |
c.25904C>T
|
p.Thr8635Ile
|
3.0 |
|
B | ||
| 16312 | chr2 | 178715592 | C | T |
c.25822G>A
|
p.Glu8608Lys
|
- | 3.0 |
|
B | |
| 28382 | chr2 | 178717161 | GC | G |
c.25572del
|
p.Gln8525SerfsTer31
|
- | 3.0 |
|
B | |
| 34328 | chr2 | 178717182 | C | T |
c.25552G>A
|
p.Val8518Ile
|
- | 3.0 |
|
B | |
| 32693 | chr2 | 178717260 | C | T |
c.25474G>A
|
p.Asp8492Asn
|
3.0 |
|
B | ||
| 27412 | chr2 | 178717359 | C | A |
c.25375G>T
|
p.Asp8459Tyr
|
- | 3.0 |
|
B | |
| 28102 | chr2 | 178717541 | C | T |
c.25333G>A
|
p.Ala8445Thr
|
- | 3.0 |
|
B | |
| 27213 | chr2 | 178717960 | G | A |
c.25046C>T
|
p.Ala8349Val
|
3.0 |
|
B | ||
| 21604 | chr2 | 178718018 | C | T |
c.24988G>A
|
p.Asp8330Asn
|
3.0 |
|
B | ||
| 21263 | chr2 | 178718043 | T | G |
c.24963A>C
|
p.Leu8321Phe
|
- | 3.0 |
|
B | |
| 27860 | chr2 | 178718092 | C | T |
c.24914G>A
|
p.Arg8305Gln
|
3.0 |
|
B | ||
| 23445 | chr2 | 178718132 | C | T |
c.24874G>A
|
p.Glu8292Lys
|
- | 3.0 |
|
B | |
| 23280 | chr2 | 178718463 | C | T |
c.24643G>A
|
p.Glu8215Lys
|
3.0 |
|
B | ||
| 19544 | chr2 | 178718479 | AT | A |
c.24626del
|
p.Tyr8209PhefsTer13
|
- | 3.0 |
|
B | |
| 30819 | chr2 | 178718495 | C | T |
c.24611G>A
|
p.Trp8204Ter
|
- | 3.0 |
|
B | |
| 21149 | chr2 | 178718977 | G | A |
c.24227-4C>T
|
-
|
2.5 |
|
B | ||
| 25614 | chr2 | 178719207 | A | T |
c.24183T>A
|
p.Asn8061Lys
|
- | 3.0 |
|
B | |
| 29491 | chr2 | 178719301 | T | A |
c.24089A>T
|
p.Lys8030Ile
|
- | 3.0 |
|
B | |
| 31204 | chr2 | 178719326 | C | T |
c.24064G>A
|
p.Gly8022Arg
|
- | 3.0 |
|
B | |
| 34329 | chr2 | 178719355 | G | A |
c.24035C>T
|
p.Ala8012Val
|
- | 3.0 |
|
B |