Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16884 | chr17 | 72122751 | T | TGGA |
c.470_472dup
|
p.Glu157dup
|
- | 3.0 |
|
B | |
| 31734 | chr17 | 72122782 | C | A |
c.495C>A
|
p.His165Gln
|
- | 3.0 |
|
B | |
| 5721 | chr17 | 72122782 | CAAG | C |
c.499_501del
|
p.Lys167del
|
- | 3.5 |
|
B | |
| 11005 | chr17 | 72122794 | C | T |
c.507C>T
|
p.His169=
|
1.0 |
|
B | ||
| 3811 | chr17 | 72122799 | A | AT |
c.514dup
|
p.Tyr172LeufsTer80
|
- | 4.0 |
|
B | |
| 23406 | chr17 | 72122802 | A | T |
c.515A>T
|
p.Tyr172Phe
|
- | 3.5 |
|
B | |
| 31605 | chr17 | 72122806 | G | T |
c.519G>T
|
p.Lys173Asn
|
- | 3.0 |
|
B | |
| 20417 | chr17 | 72122808 | A | G |
c.521A>G
|
p.Tyr174Cys
|
- | 3.0 |
|
B | |
| 32508 | chr17 | 72122825 | A | T |
c.538A>T
|
p.Lys180Ter
|
- | 4.0 |
|
B | |
| 23368 | chr17 | 72122948 | G | C |
c.661G>C
|
p.Val221Leu
|
- | 3.0 |
|
B | |
| 16885 | chr17 | 72122977 | G | T |
c.685+5G>T
|
-
|
- | 3.0 |
|
B | |
| 29732 | chr17 | 72122986 | C | G |
c.685+14C>G
|
-
|
3.0 |
|
B | ||
| 28471 | chr17 | 72123545 | C | T |
c.688C>T
|
p.Gln230Ter
|
- | 3.5 |
|
B | |
| 10389 | chr17 | 72123573 | C | T |
c.716C>T
|
p.Thr239Ile
|
- | 3.0 |
|
B | |
| 9479 | chr17 | 72123646 | C | CAG |
c.791_792dup
|
p.Gln265AspfsTer15
|
- | 4.0 |
|
B | |
| 32420 | chr17 | 72123650 | C | T |
c.793C>T
|
p.Gln265Ter
|
- | 3.5 |
|
B | |
| 11488 | chr17 | 72123666 | TC | T |
c.811del
|
p.Arg271AlafsTer8
|
- | 4.0 |
|
B | |
| 464 | chr17 | 72123700 | C | A |
c.843C>A
|
p.Asp281Glu
|
3.0 |
|
S | ||
| 23983 | chr17 | 72123715 | C | CG |
c.859dup
|
p.Glu287GlyfsTer9
|
- | 4.0 |
|
B | |
| 3164 | chr17 | 72123716 | G | T |
c.859G>T
|
p.Glu287Ter
|
- | 4.0 |
|
B |