Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31418 | chr17 | 7911630 | C | T |
c.*45C>T
-
|
-
-
|
3.0 |
|
B | ||
| 9104 | chr17 | 8072827 | G | C |
c.2050C>G
|
p.Pro684Ala
|
- | 3.0 |
|
B | |
| 11002 | chr17 | 8072898 | C | T |
c.1979G>A
|
p.Arg660Lys
|
3.0 |
|
B | ||
| 11642 | chr17 | 8073311 | A | T |
c.1763T>A
|
p.Phe588Tyr
|
- | 3.0 |
|
B | |
| 30250 | chr17 | 8073652 | G | A |
c.1755+5C>T
|
-
|
- | 3.0 |
|
B | |
| 29729 | chr17 | 8076245 | G | T |
c.1462C>A
|
p.Arg488Ser
|
- | 3.0 |
|
B | |
| 921 | chr17 | 8076306 | C | T |
c.1401G>A
|
p.Met467Ile
|
3.0 |
|
B | ||
| 14817 | chr17 | 8080246 | G | A |
c.743C>T
|
p.Ser248Phe
|
- | 3.0 |
|
B | |
| 5141 | chr17 | 8080258 | G | C |
c.731C>G
|
p.Pro244Arg
|
- | 3.0 |
|
B | |
| 33170 | chr17 | 8080269 | C | T |
c.720G>A
|
p.Arg240=
|
3.0 |
|
B | ||
| 21489 | chr17 | 8080688 | G | A |
c.620C>T
|
p.Thr207Met
|
- | 3.0 |
|
B | |
| 35420 | chr17 | 8080929 | C | G |
c.482G>C
|
p.Ser161Thr
|
- | 3.0 |
|
B | |
| 20466 | chr17 | 8081194 | G | A |
c.353-7C>T
|
-
|
3.0 |
|
B | ||
| 27885 | chr17 | 8086076 | G | A |
c.292C>T
|
p.His98Tyr
|
- | 3.0 |
|
B | |
| 8042 | chr17 | 8087297 | G | A |
c.146C>T
|
p.Ala49Val
|
3.0 |
|
B | ||
| 8736 | chr17 | 8087375 | G | A |
c.68C>T
|
p.Ser23Leu
|
- | 3.0 |
|
B | |
| 18168 | chr17 | 8087385 | C | T |
c.58G>A
|
p.Asp20Asn
|
- | 3.0 |
|
B | |
| 19803 | chr17 | 8141855 | C | T |
c.3550G>A
|
p.Val1184Met
|
- | 3.0 |
|
B | |
| 25026 | chr17 | 8141921 | G | A |
c.3484C>T
|
p.Arg1162Trp
|
3.0 |
|
B | ||
| 20157 | chr17 | 8141959 | C | T |
c.3450-4G>A
|
-
|
- | 3.0 |
|
B |