Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7016 | chr17 | 80823180 | G | A |
c.1093G>A
|
p.Val365Ile
|
3.0 |
|
B | ||
| 20821 | chr17 | 80837996 | G | C |
c.1211G>C
|
p.Arg404Pro
|
- | 3.0 |
|
B | |
| 28288 | chr17 | 80846475 | C | A |
c.1215C>A
|
p.His405Gln
|
- | 3.0 |
|
B | |
| 6625 | chr17 | 80855473 | A | G |
c.1324A>G
|
p.Ser442Gly
|
- | 3.0 |
|
B | |
| 23343 | chr17 | 80855531 | C | T |
c.1382C>T
|
p.Pro461Leu
|
- | 3.0 |
|
B | |
| 31388 | chr17 | 80857849 | G | C |
c.1458G>C
|
p.Glu486Asp
|
- | 3.0 |
|
B | |
| 9193 | chr17 | 80857900 | C | T |
c.1509C>T
|
p.Ser503=
|
3.0 |
|
B | ||
| 21239 | chr17 | 80880446 | G | A |
c.1541G>A
|
p.Gly514Asp
|
- | 3.0 |
|
B | |
| 20418 | chr17 | 80880473 | C | T |
c.1568C>T
|
p.Ala523Val
|
3.0 |
|
B | ||
| 22395 | chr17 | 80883440 | G | A |
c.1606G>A
|
p.Ala536Thr
|
- | 3.0 |
|
B | |
| 25646 | chr17 | 80883800 | A | T |
c.1670A>T
|
p.Asn557Ile
|
- | 3.0 |
|
B | |
| 7794 | chr17 | 80883827 | T | G |
c.1697T>G
|
p.Leu566Arg
|
- | 3.0 |
|
B | |
| 31606 | chr17 | 80885002 | T | C |
c.1843-6T>C
|
-
|
- | 3.0 |
|
B | |
| 20469 | chr17 | 80891732 | G | T |
c.1996G>T
|
p.Ala666Ser
|
3.0 |
|
B | ||
| 19342 | chr17 | 80908845 | G | A |
c.2436G>A
|
p.Trp812Ter
|
- | 3.0 |
|
B | |
| 11846 | chr17 | 80923578 | C | T |
c.2713C>T
|
p.Arg905Trp
|
3.0 |
|
B | ||
| 19823 | chr17 | 80940556 | C | T |
c.2980C>T
|
p.Arg994Ter
|
3.0 |
|
B | ||
| 2244 | chr17 | 80945714 | G | A |
c.3073G>A
|
p.Val1025Ile
|
3.0 |
|
B | ||
| 10778 | chr17 | 80947279 | C | T |
c.3193C>T
|
p.Pro1065Ser
|
- | 3.0 |
|
B | |
| 23775 | chr17 | 80957621 | C | T |
c.3371-3C>T
|
-
|
- | 3.0 |
|
B |