Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7600 | chr17 | 42690885 | C | T |
c.2002C>T
|
p.His668Tyr
|
- | 3.0 |
|
B | |
| 29572 | chr17 | 42690960 | G | T |
c.2059+18G>T
|
-
|
- | 3.0 |
|
B | |
| 9934 | chr17 | 42691159 | G | T |
c.2082G>T
|
p.Trp694Cys
|
- | 3.0 |
|
B | |
| 5886 | chr17 | 42691384 | G | A |
c.2217G>A
|
p.Trp739Ter
|
- | 3.0 |
|
B | |
| 2544 | chr17 | 42691496 | C | T |
c.2329C>T
|
p.Arg777Cys
|
3.0 |
|
B | ||
| 32196 | chr17 | 42691938 | T | TG |
c.2483dup
|
p.Tyr830LeufsTer24
|
- | 3.0 |
|
B | |
| 11319 | chr17 | 42693438 | G | A |
c.2894G>A
|
p.Arg965Gln
|
3.0 |
|
B | ||
| 6640 | chr17 | 42693444 | CCT | C |
c.2901_2902del
|
p.Cys968PhefsTer11
|
3.0 |
|
B | ||
| 692 | chr17 | 42693453 | A | ATGGAGGCCGCTGCG |
c.2915_2928dup
|
p.Arg977AlafsTer57
|
- | 3.0 |
|
B | |
| 19770 | chr17 | 42693548 | T | G |
c.2992+12T>G
|
-
|
- | 3.0 |
|
B | |
| 24739 | chr17 | 42695581 | G | A |
c.3053G>A
-
|
p.Arg1018His
-
|
3.0 |
|
B | ||
| 25173 | chr17 | 42695769 | G | A |
c.3241G>A
-
|
p.Gly1081Arg
-
|
3.0 |
|
B | ||
| 11646 | chr17 | 42696171 | G | A |
c.3474+19G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 26201 | chr17 | 42697324 | C | A |
c.3525C>A
-
|
p.Ser1175Arg
-
|
- | 3.0 |
|
B | |
| 14899 | chr17 | 42697349 | T | C |
c.3550T>C
-
|
p.Tyr1184His
-
|
- | 3.0 |
|
B | |
| 29410 | chr17 | 42697583 | C | T |
c.3598C>T
-
|
p.Arg1200Cys
-
|
3.0 |
|
B | ||
| 7563 | chr17 | 42702916 | C | T |
-
c.2144G>A
|
-
p.Arg715Lys
|
- | 3.0 |
|
B | |
| 9708 | chr17 | 42703782 | G | A |
-
c.2056C>T
|
-
p.Arg686Ter
|
3.0 |
|
B | ||
| 15424 | chr17 | 42704585 | A | G |
-
c.2017+17T>C
|
-
-
|
- | 3.0 |
|
B | |
| 18811 | chr17 | 42705189 | G | A |
c.1840-6C>T
|
-
|
- | 3.0 |
|
B |