Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20263 | chr1 | 26697456 | AG | A |
c.1057del
|
p.Ala353ProfsTer10
|
- | 4.0 |
|
B | |
| 28821 | chr1 | 26729663 | A | G |
c.1150A>G
|
p.Met384Val
|
3.5 |
|
B | ||
| 26684 | chr1 | 26729685 | G | T |
c.1172G>T
|
p.Arg391Ile
|
- | 3.0 |
|
B | |
| 26209 | chr1 | 26729726 | C | T |
c.1213C>T
|
p.Gln405Ter
|
- | 4.0 |
|
B | |
| 17188 | chr1 | 26729735 | C | T |
c.1222C>T
|
p.Pro408Ser
|
- | 3.0 |
|
B | |
| 9851 | chr1 | 26729837 | A | G |
c.1324A>G
|
p.Met442Val
|
3.0 |
|
B | ||
| 9850 | chr1 | 26731200 | C | T |
c.1399C>T
|
p.Gln467Ter
|
- | 4.0 |
|
B | |
| 23405 | chr1 | 26731260 | C | T |
c.1459C>T
|
p.Gln487Ter
|
- | 4.0 |
|
B | |
| 85 | chr1 | 26731290 | C | T |
c.1489C>T
|
p.Gln497Ter
|
- | 5.0 |
|
A | |
| 7215 | chr1 | 26731320 | CA | C |
c.1521del
|
p.Gln507HisfsTer112
|
- | 4.0 |
|
B | |
| 20584 | chr1 | 26731405 | C | A |
c.1604C>A
|
p.Pro535His
|
- | 3.0 |
|
B | |
| 10348 | chr1 | 26731476 | C | T |
c.1675C>T
|
p.Pro559Ser
|
- | 3.0 |
|
B | |
| 4868 | chr1 | 26731538 | T | G |
c.1737T>G
|
p.Tyr579Ter
|
- | 4.0 |
|
B | |
| 20718 | chr1 | 26731554 | C | T |
c.1753C>T
|
p.Gln585Ter
|
- | 4.0 |
|
B | |
| 9785 | chr1 | 26731563 | C | T |
c.1762C>T
|
p.Gln588Ter
|
- | 4.0 |
|
B | |
| 5920 | chr1 | 26731573 | C | T |
c.1772C>T
|
p.Ala591Val
|
- | 3.0 |
|
B | |
| 12696 | chr1 | 26732703 | C | T |
c.1831C>T
|
p.Gln611Ter
|
- | 4.0 |
|
B | |
| 22706 | chr1 | 26732731 | C | T |
c.1859C>T
|
p.Ser620Phe
|
3.0 |
|
B | ||
| 1630 | chr1 | 26732773 | C | G |
c.1901C>G
|
p.Ser634Ter
|
- | 4.0 |
|
B | |
| 33234 | chr1 | 26760806 | AATCTTTCTGCCTAATATTACTAATCCATGTTCTTATATAT | A |
c.1921-47_1921-8del
|
-
|
- | 3.0 |
|
B |