Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 606 | chr4 | 54272497 | G | C |
c.1341G>C
|
p.Trp447Cys
|
- | 3.0 |
|
B | |
| 27513 | chr4 | 54272526 | G | A |
c.1364+6G>A
|
-
|
3.0 |
|
B | ||
| 5978 | chr4 | 54273547 | G | A |
c.1375G>A
|
p.Glu459Lys
|
3.0 |
|
B | ||
| 19054 | chr4 | 54273564 | T | G |
c.1392T>G
|
p.Ile464Met
|
- | 3.0 |
|
B | |
| 4315 | chr4 | 54273652 | G | A |
c.1480G>A
|
p.Glu494Lys
|
- | 3.0 |
|
B | |
| 32120 | chr4 | 54273706 | C | T |
c.1534C>T
|
p.Arg512Ter
|
3.0 |
|
B | ||
| 6680 | chr4 | 54274523 | T | A |
c.1559-8T>A
|
-
|
3.0 |
|
B | ||
| 16263 | chr4 | 54274526 | C | T |
c.1559-5C>T
|
-
|
2.5 |
|
B | ||
| 21512 | chr4 | 54274558 | C | A |
c.1586C>A
|
p.Ala529Asp
|
- | 3.0 |
|
B | |
| 21513 | chr4 | 54274825 | T | C |
c.1654-16T>C
|
-
|
- | 3.0 |
|
B | |
| 196 | chr4 | 54274851 | A | G |
c.1664A>G
|
p.Tyr555Cys
|
4.67 |
|
A | ||
| 35288 | chr4 | 54274866 | G | T |
c.1679G>T
|
p.Arg560Met
|
3.0 |
|
B | ||
| 11647 | chr4 | 54274915 | C | A |
c.1728C>A
|
p.Asp576Glu
|
- | 3.0 |
|
B | |
| 10428 | chr4 | 54274936 | C | G |
c.1749C>G
|
p.Asp583Glu
|
- | 3.0 |
|
B | |
| 31756 | chr4 | 54274985 | G | C |
c.1786+12G>C
|
-
|
- | 3.0 |
|
B | |
| 10967 | chr4 | 54277119 | G | A |
c.1787-269G>A
|
-
|
1.0 |
|
B | ||
| 30511 | chr4 | 54277138 | C | A |
c.1787-250C>A
|
-
|
- | 3.0 |
|
B | |
| 20214 | chr4 | 54277346 | C | T |
c.1787-42C>T
|
-
|
3.0 |
|
B | ||
| 29995 | chr4 | 54277477 | G | A |
c.1876G>A
|
p.Val626Met
|
- | 3.0 |
|
B | |
| 1993 | chr4 | 54277984 | G | T |
c.1980G>T
|
p.Leu660Phe
|
3.0 |
|
B |