Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32526 | chr17 | 80343987 | C | T |
c.6314C>T
|
p.Ser2105Leu
|
- | 3.0 |
|
B | |
| 19341 | chr17 | 80344680 | T | C |
c.6345T>C
|
p.Arg2115=
|
- | 3.0 |
|
B | |
| 29668 | chr17 | 80345044 | C | T |
c.6709C>T
|
p.Pro2237Ser
|
3.0 |
|
B | ||
| 34649 | chr17 | 80345328 | T | A |
c.6993T>A
|
p.Asp2331Glu
|
- | 3.0 |
|
B | |
| 11723 | chr17 | 80346364 | G | A |
c.8029G>A
|
p.Glu2677Lys
|
3.0 |
|
B | ||
| 30251 | chr17 | 80346515 | G | A |
c.8180G>A
|
p.Arg2727Gln
|
2.0 |
|
B | ||
| 17394 | chr17 | 80346613 | G | A |
c.8278G>A
|
p.Glu2760Lys
|
3.0 |
|
B | ||
| 19232 | chr17 | 80346820 | C | A |
c.8485C>A
|
p.Gln2829Lys
|
- | 3.0 |
|
B | |
| 30516 | chr17 | 80346956 | C | T |
c.8621C>T
|
p.Ala2874Val
|
- | 3.0 |
|
B | |
| 23592 | chr17 | 80347169 | G | A |
c.8834G>A
|
p.Arg2945His
|
3.0 |
|
B | ||
| 35446 | chr17 | 80347329 | C | G |
c.8994C>G
|
p.Ile2998Met
|
3.0 |
|
B | ||
| 34491 | chr17 | 80347422 | GC | G |
c.9089del
|
p.Pro3030ArgfsTer16
|
- | 3.0 |
|
B | |
| 19355 | chr17 | 80347774 | C | T |
c.9439C>T
|
p.Arg3147Cys
|
2.5 |
|
B | ||
| 22784 | chr17 | 80347921 | G | C |
c.9586G>C
|
p.Glu3196Gln
|
- | 3.0 |
|
B | |
| 31072 | chr17 | 80349839 | G | A |
c.10021G>A
|
p.Ala3341Thr
|
- | 3.0 |
|
B | |
| 32309 | chr17 | 80349842 | C | A |
c.10024C>A
|
p.Pro3342Thr
|
- | 3.0 |
|
B | |
| 24770 | chr17 | 80349881 | G | A |
c.10063G>A
|
p.Glu3355Lys
|
3.0 |
|
B | ||
| 28927 | chr17 | 80349893 | C | T |
c.10075C>T
|
p.Leu3359Phe
|
- | 3.0 |
|
B | |
| 16838 | chr17 | 80350287 | C | T |
c.10089-14C>T
|
-
|
- | 3.0 |
|
B | |
| 19777 | chr17 | 80351664 | CT | C |
c.10185-11del
|
-
|
1.0 |
|
B |