Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18244 | chr17 | 7673770 | T | G |
c.850A>C
|
p.Thr284Pro
|
4.0 |
|
B | ||
| 15583 | chr17 | 7673772 | C | G |
c.848G>C
|
p.Arg283Pro
|
4.0 |
|
B | ||
| 34799 | chr17 | 7673773 | G | C |
c.847C>G
|
p.Arg283Gly
|
3.5 |
|
B | ||
| 15151 | chr17 | 7673774 | CCGGTCT | C |
c.840_845del
|
p.Asp281_Arg282del
|
- | 3.0 |
|
B | |
| 34232 | chr17 | 7673775 | C | T |
c.845G>A
|
p.Arg282Gln
|
3.5 |
|
B | ||
| 527 | chr17 | 7673776 | G | A |
c.844C>T
|
p.Arg282Trp
|
4.0 |
|
B | ||
| 8097 | chr17 | 7673776 | G | C |
c.844C>G
|
p.Arg282Gly
|
4.0 |
|
B | ||
| 17152 | chr17 | 7673777 | G | C |
c.843C>G
|
p.Asp281Glu
|
3.5 |
|
B | ||
| 5490 | chr17 | 7673777 | G | T |
c.843C>A
|
p.Asp281Glu
|
3.5 |
|
B | ||
| 5474 | chr17 | 7673778 | T | A |
c.842A>T
|
p.Asp281Val
|
3.5 |
|
B | ||
| 8029 | chr17 | 7673779 | C | A |
c.841G>T
|
p.Asp281Tyr
|
4.0 |
|
B | ||
| 18521 | chr17 | 7673779 | C | CG |
c.840_841insC
|
p.Asp281ArgfsTer25
|
- | 4.0 |
|
B | |
| 2095 | chr17 | 7673781 | C | A |
c.839G>T
|
p.Arg280Ile
|
4.0 |
|
B | ||
| 35457 | chr17 | 7673781 | C | G |
c.839G>C
|
p.Arg280Thr
|
4.0 |
|
B | ||
| 1382 | chr17 | 7673781 | C | T |
c.839G>A
|
p.Arg280Lys
|
4.0 |
|
B | ||
| 24506 | chr17 | 7673782 | T | A |
c.838A>T
|
p.Arg280Ter
|
- | 4.5 |
|
B | |
| 6871 | chr17 | 7673782 | T | C |
c.838A>G
|
p.Arg280Gly
|
4.0 |
|
B | ||
| 22702 | chr17 | 7673782 | TC | T |
c.837del
|
p.Arg280GlufsTer65
|
- | 3.5 |
|
B | |
| 29127 | chr17 | 7673786 | AG | A |
c.833del
|
p.Pro278LeufsTer67
|
- | 3.5 |
|
B | |
| 4134 | chr17 | 7673787 | G | A |
c.833C>T
|
p.Pro278Leu
|
5.0 |
|
B |