Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2765 | chr17 | 31227548 | G | A |
c.2351G>A
|
p.Trp784Ter
|
- | 4.0 |
|
B | |
| 27053 | chr17 | 31229061 | C | T |
c.2446C>T
|
p.Arg816Ter
|
4.5 |
|
B | ||
| 14971 | chr17 | 31229136 | A | G |
c.2521A>G
|
p.Thr841Ala
|
- | 3.0 |
|
B | |
| 5484 | chr17 | 31229140 | GCTTC | G |
c.2529_2532del
|
p.Leu844ValfsTer33
|
- | 4.0 |
|
B | |
| 24076 | chr17 | 31229149 | G | A |
c.2534G>A
|
p.Cys845Tyr
|
3.5 |
|
B | ||
| 1246 | chr17 | 31229232 | C | T |
c.2617C>T
|
p.Arg873Cys
|
2.0 |
|
B | ||
| 9356 | chr17 | 31229276 | AG | A |
c.2662del
|
p.Asp888IlefsTer14
|
- | 4.0 |
|
B | |
| 16412 | chr17 | 31229280 | AC | A |
c.2666del
|
p.Thr889AsnfsTer13
|
- | 4.0 |
|
B | |
| 706 | chr17 | 31229300 | G | T |
c.2685G>T
|
p.Met895Ile
|
- | 2.5 |
|
B | |
| 25172 | chr17 | 31229317 | T | A |
c.2702T>A
|
p.Leu901Ter
|
- | 4.0 |
|
B | |
| 8194 | chr17 | 31229394 | C | T |
c.2779C>T
|
p.Pro927Ser
|
- | 3.0 |
|
B | |
| 11481 | chr17 | 31229444 | GT | G |
c.2835del
|
p.Phe945LeufsTer9
|
4.0 |
|
B | ||
| 15368 | chr17 | 31229457 | C | T |
c.2842C>T
|
p.Gln948Ter
|
4.5 |
|
B | ||
| 19929 | chr17 | 31229474 | T | C |
c.2850+9T>C
|
-
|
2.0 |
|
B | ||
| 17713 | chr17 | 31229857 | C | T |
c.2873C>T
|
p.Thr958Ile
|
- | 3.0 |
|
B | |
| 6712 | chr17 | 31229925 | G | GA |
c.2943dup
|
p.His982ThrfsTer6
|
- | 4.0 |
|
B | |
| 1717 | chr17 | 31229949 | G | T |
c.2965G>T
|
p.Glu989Ter
|
- | 4.0 |
|
B | |
| 19106 | chr17 | 31229975 | G | A |
c.2990+1G>A
|
p.?
|
4.5 |
|
B | ||
| 12946 | chr17 | 31230259 | G | A |
c.2991-1G>A
|
p.?
|
4.0 |
|
B | ||
| 16179 | chr17 | 31230265 | T | C |
c.2996T>C
|
p.Val999Ala
|
- | 3.0 |
|
B |