Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1764 | chr8 | 32742715 | G | A |
c.700+640G>A
|
-
|
3.0 |
|
B | ||
| 1431 | chr8 | 32748683 | C | A |
c.701-5689C>A
|
-
|
- | 3.0 |
|
B | |
| 34772 | chr8 | 32749567 | T | G |
c.701-4805T>G
|
-
|
- | 3.0 |
|
B | |
| 27073 | chr8 | 32756375 | AAATAAATGCTCCCTTTCTT | A |
c.804-26_804-8del
|
-
|
- | 3.0 |
|
B | |
| 31852 | chr8 | 32756429 | G | A |
c.830G>A
|
p.Arg277His
|
3.0 |
|
B | ||
| 26928 | chr8 | 32756434 | C | T |
c.835C>T
|
p.Arg279Trp
|
3.0 |
|
B | ||
| 25781 | chr8 | 32756455 | C | T |
c.856C>T
|
p.Arg286Ter
|
4.0 |
|
B | ||
| 11547 | chr8 | 32756456 | G | A |
c.857G>A
|
p.Arg286Gln
|
3.0 |
|
B | ||
| 26447 | chr8 | 32756477 | C | G |
c.878C>G
|
p.Ala293Gly
|
- | 3.0 |
|
B | |
| 9305 | chr8 | 32759349 | A | T |
c.974A>T
|
p.Glu325Val
|
- | 3.0 |
|
B | |
| 12817 | chr8 | 32759443 | G | A |
c.1061+7G>A
|
-
|
- | 3.0 |
|
B | |
| 23807 | chr8 | 32760195 | C | T |
c.1062-5C>T
|
-
|
3.0 |
|
B | ||
| 20352 | chr8 | 32760196 | G | A |
c.1062-4G>A
|
-
|
1.5 |
|
B | ||
| 31505 | chr8 | 32760224 | C | G |
c.1086C>G
|
p.Ser362Arg
|
- | 3.0 |
|
B | |
| 2964 | chr8 | 32760297 | G | A |
c.1159G>A
|
p.Gly387Ser
|
3.0 |
|
B | ||
| 17672 | chr8 | 32760370 | C | A |
c.1232C>A
|
p.Thr411Asn
|
- | 3.0 |
|
B | |
| 15817 | chr8 | 32763202 | CT | C |
c.1269-537del
|
-
|
3.0 |
|
B | ||
| 12913 | chr8 | 32763301 | G | C |
c.1269-447G>C
|
-
|
3.0 |
|
B | ||
| 21316 | chr8 | 32763791 | G | T |
c.1312G>T
|
p.Asp438Tyr
|
- | 3.0 |
|
B | |
| 5098 | chr8 | 32763819 | C | T |
c.1340C>T
|
p.Ser447Leu
|
3.0 |
|
B |