Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11999 | chr17 | 7674980 | A | G |
c.560-9T>C
|
-
|
- | 3.0 |
|
B | |
| 26401 | chr17 | 7674984 | A | T |
c.560-13T>A
|
-
|
- | 3.5 |
|
B | |
| 33279 | chr17 | 7675035 | C | G |
c.559+18G>C
|
-
|
3.0 |
|
B | ||
| 21576 | chr17 | 7675041 | C | T |
c.559+12G>A
|
-
|
- | 3.0 |
|
B | |
| 21254 | chr17 | 7675046 | TGCTC | T |
c.559+3_559+6del
|
-
|
- | 3.5 |
|
B | |
| 11583 | chr17 | 7675051 | A | C |
c.559+2T>G
|
p.?
|
- | 4.0 |
|
B | |
| 7321 | chr17 | 7675051 | A | G |
c.559+2T>C
|
p.?
|
- | 4.0 |
|
B | |
| 24165 | chr17 | 7675051 | AC | A |
c.559+1del
|
p.?
|
- | 4.0 |
|
B | |
| 10586 | chr17 | 7675052 | C | G |
c.559+1G>C
|
p.?
|
- | 4.5 |
|
B | |
| 974 | chr17 | 7675052 | C | T |
c.559+1G>A
|
p.?
|
4.5 |
|
B | ||
| 17177 | chr17 | 7675053 | C | G |
c.559G>C
|
p.Gly187Arg
|
3.5 |
|
B | ||
| 34043 | chr17 | 7675054 | ATCGC | A |
c.554_557del
|
p.Ser185MetfsTer61
|
- | 4.0 |
|
B | |
| 9457 | chr17 | 7675057 | GCTAT | G |
c.551_554del
|
p.Asp184AlafsTer62
|
4.5 |
|
B | ||
| 33826 | chr17 | 7675062 | CT | C |
c.549del
|
p.Asp184IlefsTer63
|
- | 4.0 |
|
B | |
| 20 | chr17 | 7675064 | G | C |
c.548C>G
|
p.Ser183Ter
|
4.67 |
|
A | ||
| 6456 | chr17 | 7675064 | G | T |
c.548C>A
|
p.Ser183Ter
|
- | 4.0 |
|
B | |
| 1798 | chr17 | 7675065 | AGCAGCGCTCATGGTGGGG | A |
c.529_546del
|
p.Pro177_Cys182del
|
4.5 |
|
B | ||
| 21904 | chr17 | 7675066 | G | T |
c.546C>A
|
p.Cys182Ter
|
- | 4.0 |
|
B | |
| 33705 | chr17 | 7675070 | C | T |
c.542G>A
|
p.Arg181His
|
4.0 |
|
B | ||
| 76 | chr17 | 7675074 | C | T |
c.538G>A
|
p.Glu180Lys
|
3.5 |
|
B |