Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12986 | chr17 | 8143310 | G | C |
c.3028C>G
|
p.Pro1010Ala
|
- | 3.0 |
|
B | |
| 26373 | chr17 | 8143423 | G | GGA |
c.2913_2914dup
|
p.Pro972LeufsTer151
|
- | 4.0 |
|
B | |
| 30657 | chr17 | 8143640 | G | A |
c.2698C>T
|
p.Pro900Ser
|
3.0 |
|
B | ||
| 23528 | chr17 | 8143823 | C | A |
c.2515G>T
|
p.Ala839Ser
|
- | 3.0 |
|
B | |
| 15717 | chr17 | 8143831 | C | T |
c.2507G>A
|
p.Arg836Gln
|
3.0 |
|
B | ||
| 28276 | chr17 | 8143844 | G | A |
c.2494C>T
|
p.Arg832Ter
|
4.0 |
|
B | ||
| 21718 | chr17 | 8143876 | C | G |
c.2462G>C
|
p.Gly821Ala
|
- | 3.0 |
|
B | |
| 30539 | chr17 | 8146060 | G | A |
c.2116C>T
|
p.Leu706Phe
|
- | 3.0 |
|
B | |
| 27905 | chr17 | 8146655 | C | T |
c.1846G>A
|
p.Glu616Lys
|
3.0 |
|
B | ||
| 23662 | chr17 | 8146748 | C | T |
c.1753G>A
|
p.Ala585Thr
|
- | 3.0 |
|
B | |
| 20566 | chr17 | 8147529 | G | A |
c.1438C>T
|
p.Pro480Ser
|
3.0 |
|
B | ||
| 15500 | chr17 | 8147812 | C | G |
c.1250G>C
|
p.Gly417Ala
|
- | 3.0 |
|
B | |
| 33072 | chr17 | 8149312 | TG | T |
c.854-3del
|
-
|
- | 3.0 |
|
B | |
| 30965 | chr17 | 8149624 | T | G |
c.691A>C
|
p.Ile231Leu
|
- | 3.0 |
|
B | |
| 22940 | chr17 | 8149681 | G | A |
c.652-18C>T
|
-
|
3.0 |
|
B | ||
| 26977 | chr17 | 8149763 | G | A |
c.643C>T
|
p.Gln215Ter
|
- | 4.0 |
|
B | |
| 16987 | chr17 | 8149774 | T | G |
c.632A>C
|
p.Glu211Ala
|
- | 3.0 |
|
B | |
| 32545 | chr17 | 8150507 | T | G |
c.200A>C
|
p.Gln67Pro
|
- | 3.0 |
|
B | |
| 13065 | chr17 | 8150571 | C | T |
c.136G>A
|
p.Asp46Asn
|
- | 3.0 |
|
B | |
| 21990 | chr17 | 8205229 | C | T |
c.848G>A
|
p.Arg283His
|
3.0 |
|
B |