Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21693 | chr7 | 106867733 | C | T |
c.172C>T
|
p.Leu58=
|
- | 3.0 |
|
B | |
| 16296 | chr7 | 106867740 | A | ACGTTGC |
c.182_183insTGCCGT
|
p.Val61_Ala62dup
|
- | 3.0 |
|
B | |
| 26023 | chr7 | 106867741 | C | T |
c.180C>T
|
p.His60=
|
3.0 |
|
B | ||
| 15437 | chr7 | 106867753 | C | T |
c.192C>T
|
p.His64=
|
- | 3.0 |
|
B | |
| 10675 | chr7 | 106867794 | C | T |
c.233C>T
|
p.Ala78Val
|
- | 3.0 |
|
B | |
| 5382 | chr7 | 106867812 | C | T |
c.251C>T
|
p.Ala84Val
|
3.0 |
|
B | ||
| 11732 | chr7 | 106867882 | C | T |
c.321C>T
|
p.Tyr107=
|
3.0 |
|
B | ||
| 25947 | chr7 | 106867963 | G | A |
c.402G>A
|
p.Gln134=
|
3.0 |
|
B | ||
| 11517 | chr7 | 106868015 | C | T |
c.454C>T
|
p.Arg152Trp
|
- | 3.0 |
|
B | |
| 28091 | chr7 | 106868045 | G | A |
c.484G>A
|
p.Val162Ile
|
- | 3.0 |
|
B | |
| 25581 | chr7 | 106868049 | C | G |
c.488C>G
|
p.Thr163Ser
|
3.0 |
|
B | ||
| 6588 | chr7 | 106868054 | G | A |
c.493G>A
|
p.Val165Ile
|
3.0 |
|
B | ||
| 34377 | chr7 | 106868090 | C | T |
c.529C>T
|
p.Arg177Cys
|
- | 3.0 |
|
B | |
| 11651 | chr7 | 106868091 | G | A |
c.530G>A
|
p.Arg177His
|
3.0 |
|
B | ||
| 3156 | chr7 | 106868112 | G | A |
c.551G>A
|
p.Arg184His
|
- | 3.0 |
|
B | |
| 23483 | chr7 | 106868138 | C | A |
c.577C>A
|
p.Pro193Thr
|
3.0 |
|
B | ||
| 19609 | chr7 | 106868149 | C | T |
c.588C>T
|
p.Tyr196=
|
3.0 |
|
B | ||
| 8732 | chr7 | 106868150 | G | A |
c.589G>A
|
p.Ala197Thr
|
3.0 |
|
B | ||
| 31390 | chr7 | 106868158 | C | A |
c.597C>A
|
p.His199Gln
|
- | 3.0 |
|
B | |
| 5656 | chr7 | 106868160 | C | G |
c.599C>G
|
p.Pro200Arg
|
- | 3.0 |
|
B |