Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8709 | chr17 | 7670708 | C | A |
c.1001G>T
|
p.Gly334Val
|
- | 3.0 |
|
B | |
| 25197 | chr17 | 7670709 | C | A |
c.1000G>T
|
p.Gly334Trp
|
4.0 |
|
B | ||
| 78 | chr17 | 7670709 | C | G |
c.1000G>C
|
p.Gly334Arg
|
3.0 |
|
B | ||
| 10398 | chr17 | 7670711 | CG | C |
c.997del
|
p.Arg333ValfsTer12
|
- | 4.0 |
|
B | |
| 18762 | chr17 | 7670713 | G | A |
c.996C>T
|
p.Ile332=
|
2.5 |
|
B | ||
| 10841 | chr17 | 7670716 | C | G |
c.994-1G>C
|
p.?
|
4.5 |
|
B | ||
| 29164 | chr17 | 7670717 | T | A |
c.994-2A>T
|
p.?
|
- | 4.0 |
|
B | |
| 16559 | chr17 | 7670717 | T | C |
c.994-2A>G
|
p.?
|
3.5 |
|
B | ||
| 33659 | chr17 | 7670721 | G | T |
c.994-6C>A
|
-
|
2.0 |
|
B | ||
| 33660 | chr17 | 7670722 | C | T |
c.994-7G>A
|
-
|
- | 2.5 |
|
B | |
| 22938 | chr17 | 7670735 | G | A |
c.994-20C>T
|
-
|
- | 3.0 |
|
B | |
| 22659 | chr17 | 7673527 | C | T |
c.993+8G>A
|
-
|
2.5 |
|
B | ||
| 27296 | chr17 | 7673529 | TAGTACCTGA | T |
c.990_993+5del
|
p.?
|
- | 4.0 |
|
B | |
| 2260 | chr17 | 7673534 | C | T |
c.993+1G>A
|
p.?
|
5.0 |
|
B | ||
| 10707 | chr17 | 7673535 | C | A |
c.993G>T
|
p.Gln331His
|
3.5 |
|
B | ||
| 4211 | chr17 | 7673537 | G | A |
c.991C>T
|
p.Gln331Ter
|
5.0 |
|
B | ||
| 15907 | chr17 | 7673537 | G | GA |
c.990dup
|
p.Gln331SerfsTer6
|
- | 4.5 |
|
B | |
| 32132 | chr17 | 7673539 | A | C |
c.989T>G
|
p.Leu330Arg
|
- | 3.5 |
|
B | |
| 2230 | chr17 | 7673544 | G | GA |
c.983dup
|
p.Thr329HisfsTer8
|
4.5 |
|
B | ||
| 6340 | chr17 | 7673552 | C | A |
c.976G>T
|
p.Glu326Ter
|
3.5 |
|
B |