Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33368 | chr6 | 163535060 | C | T |
c.481C>T
|
p.Gln161Ter
|
- | 3.5 |
|
B | |
| 14776 | chr6 | 163535134 | T | C |
c.546+9T>C
|
-
|
3.0 |
|
B | ||
| 32165 | chr6 | 163562070 | G | GT |
c.634+2dup
|
-
|
- | 3.0 |
|
B | |
| 7735 | chr6 | 163562074 | G | C |
c.634+5G>C
|
-
|
- | 3.0 |
|
B | |
| 11676 | chr6 | 163563408 | T | G |
c.635-12T>G
|
-
|
- | 3.0 |
|
B | |
| 6259 | chr6 | 163563452 | C | A |
c.667C>A
|
p.Gln223Lys
|
- | 3.0 |
|
B | |
| 16743 | chr6 | 163563455 | G | A |
c.670G>A
|
p.Ala224Thr
|
3.0 |
|
B | ||
| 9041 | chr6 | 163563516 | C | T |
c.731C>T
|
p.Pro244Leu
|
- | 3.0 |
|
B | |
| 13963 | chr6 | 163563610 | TC | T |
c.827del
|
p.Pro276LeufsTer8
|
- | 3.5 |
|
B | |
| 31357 | chr6 | 163563668 | G | T |
c.883G>T
|
p.Ala295Ser
|
- | 3.0 |
|
B | |
| 34205 | chr6 | 163563684 | T | A |
c.899T>A
|
p.Ile300Asn
|
- | 3.0 |
|
B | |
| 25780 | chr6 | 163563695 | C | T |
c.910C>T
|
p.Pro304Ser
|
- | 3.0 |
|
B | |
| 6746 | chr6 | 163564654 | CT | C |
c.934+943del
|
-
|
3.0 |
|
B | ||
| 7570 | chr6 | 163566720 | G | A |
c.935-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 3649 | chr6 | 165333168 | G | A |
c.3066-41C>T
|
-
|
- | 3.0 |
|
B | |
| 4833 | chr6 | 165379204 | G | A |
c.2773C>T
|
p.Gln925Ter
|
- | 3.0 |
|
B | |
| 19605 | chr6 | 167000048 | CT | C |
c.103-4del
|
-
|
3.0 |
|
B | ||
| 31460 | chr6 | 167003174 | A | AT |
c.157-6dup
|
-
|
3.0 |
|
B | ||
| 20227 | chr6 | 167003174 | AT | A |
c.157-6del
|
-
|
2.5 |
|
B | ||
| 17477 | chr6 | 167010795 | T | A |
c.439-18T>A
|
-
|
- | 3.0 |
|
B |