Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28804 | chr5 | 122444642 | G | A |
c.1502G>A
|
p.Gly501Glu
|
- | 3.0 |
|
B | |
| 22306 | chr5 | 122449919 | C | T |
c.1667C>T
|
p.Ser556Leu
|
- | 3.0 |
|
B | |
| 19307 | chr5 | 122450525 | C | T |
c.1686-8C>T
|
-
|
- | 3.0 |
|
B | |
| 9417 | chr5 | 122450564 | C | A |
c.1717C>A
|
p.Gln573Lys
|
- | 3.0 |
|
B | |
| 937 | chr5 | 122450577 | C | T |
c.1730C>T
|
p.Pro577Leu
|
- | 3.0 |
|
B | |
| 18781 | chr5 | 122450687 | G | A |
c.1840G>A
|
p.Glu614Lys
|
- | 3.0 |
|
B | |
| 11814 | chr5 | 122451007 | G | A |
c.2160G>A
|
p.Met720Ile
|
3.0 |
|
B | ||
| 1762 | chr5 | 122451036 | G | A |
c.2189G>A
|
p.Gly730Glu
|
- | 3.0 |
|
B | |
| 4147 | chr5 | 122451047 | C | T |
c.2200C>T
|
p.Pro734Ser
|
- | 3.0 |
|
B | |
| 27139 | chr5 | 122451258 | C | T |
c.2411C>T
|
p.Ser804Phe
|
- | 3.0 |
|
B | |
| 30114 | chr5 | 122451297 | C | T |
c.2450C>T
|
p.Thr817Ile
|
- | 3.0 |
|
B | |
| 21220 | chr5 | 122451358 | C | G |
c.2511C>G
|
p.Asp837Glu
|
- | 3.0 |
|
B | |
| 27745 | chr5 | 122451383 | C | T |
c.2536C>T
|
p.Arg846Trp
|
3.0 |
|
B | ||
| 3930 | chr5 | 122451401 | G | A |
c.2554G>A
|
p.Glu852Lys
|
3.0 |
|
B | ||
| 5820 | chr5 | 122451405 | C | T |
c.2558C>T
|
p.Ser853Leu
|
3.0 |
|
B | ||
| 8443 | chr5 | 122451440 | C | T |
c.2593C>T
|
p.Arg865Ter
|
3.0 |
|
B | ||
| 24057 | chr5 | 122451554 | G | A |
c.2707G>A
|
p.Ala903Thr
|
- | 3.0 |
|
B | |
| 21306 | chr5 | 122451560 | G | A |
c.2713G>A
|
p.Gly905Arg
|
3.0 |
|
B | ||
| 1148 | chr5 | 122452970 | G | A |
c.2754+1369G>A
|
-
|
- | 3.0 |
|
B | |
| 4342 | chr5 | 127396762 | G | A |
c.643G>A
|
p.Gly215Arg
|
- | 3.0 |
|
B |