Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24790 | chr11 | 120451587 | C | T |
c.1919C>T
|
p.Pro640Leu
|
3.0 |
|
B | ||
| 13079 | chr11 | 120457251 | G | A |
c.2189+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 25228 | chr11 | 120460655 | T | G |
c.2528-17T>G
|
-
|
- | 3.0 |
|
B | |
| 16789 | chr11 | 120465376 | G | A |
c.2739+14G>A
|
-
|
- | 3.0 |
|
B | |
| 23900 | chr11 | 120474594 | A | G |
c.3068A>G
|
p.Glu1023Gly
|
- | 3.0 |
|
B | |
| 34291 | chr11 | 120476724 | CACAG | C |
c.3346_3349del
|
p.Thr1116PhefsTer10
|
4.0 |
|
B | ||
| 34807 | chr11 | 120477451 | G | A |
c.3457G>A
|
p.Asp1153Asn
|
- | 3.0 |
|
B | |
| 17823 | chr11 | 120477451 | GAT | G |
c.3459_3460del
|
p.Asp1153GlufsTer2
|
- | 4.0 |
|
B | |
| 16402 | chr11 | 120478192 | C | G |
c.3569C>G
|
p.Ser1190Ter
|
- | 3.5 |
|
B | |
| 18597 | chr11 | 120479953 | C | G |
c.3767-7C>G
|
-
|
- | 3.0 |
|
B | |
| 17799 | chr11 | 120480107 | CCTATCATT | C |
c.3917_3924del
|
p.Tyr1306TrpfsTer2
|
- | 4.0 |
|
B | |
| 34035 | chr11 | 120481394 | C | G |
c.4372C>G
|
p.Pro1458Ala
|
- | 3.0 |
|
B | |
| 22165 | chr11 | 120481467 | C | G |
c.4445C>G
|
p.Ala1482Gly
|
- | 3.0 |
|
B | |
| 30700 | chr11 | 120485064 | C | G |
c.4625-3C>G
|
-
|
- | 3.0 |
|
B | |
| 3443 | chr11 | 120956878 | C | T |
c.1799C>T
|
p.Pro600Leu
|
3.0 |
|
B | ||
| 11218 | chr11 | 122981391 | T | G |
c.262+19A>C
|
-
|
- | 3.0 |
|
B | |
| 16279 | chr11 | 123057819 | C | T |
c.1856G>A
|
p.Gly619Glu
|
- | 3.0 |
|
B | |
| 4176 | chr11 | 123057883 | C | G |
c.1792G>C
|
p.Glu598Gln
|
- | 3.0 |
|
B | |
| 9961 | chr11 | 123058790 | A | AG |
c.1363dup
|
p.Leu455ProfsTer6
|
- | 3.0 |
|
B | |
| 17332 | chr11 | 123058808 | A | T |
c.1346T>A
|
p.Met449Lys
|
- | 3.0 |
|
B |