Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30907 | chr1 | 158634524 | C | A |
c.5565+19G>T
|
-
|
3.0 |
|
B | ||
| 35528 | chr1 | 158634572 | C | T |
c.5536G>A
|
p.Asp1846Asn
|
3.0 |
|
B | ||
| 11540 | chr1 | 158634575 | C | A |
c.5533G>T
|
p.Gly1845Ter
|
- | 3.5 |
|
B | |
| 15484 | chr1 | 158634578 | G | A |
c.5530C>T
|
p.Arg1844Ter
|
3.0 |
|
B | ||
| 31616 | chr1 | 158634623 | C | T |
c.5485G>A
|
p.Glu1829Lys
|
- | 3.0 |
|
B | |
| 19519 | chr1 | 158634634 | A | G |
c.5474T>C
|
p.Met1825Thr
|
- | 3.0 |
|
B | |
| 23420 | chr1 | 158635906 | C | A |
c.5432+7G>T
|
-
|
- | 3.0 |
|
B | |
| 8926 | chr1 | 158635915 | G | T |
c.5430C>A
|
p.Ala1810=
|
- | 3.0 |
|
B | |
| 4929 | chr1 | 158635968 | G | A |
c.5377C>T
|
p.Arg1793Trp
|
3.0 |
|
B | ||
| 12368 | chr1 | 158636005 | T | G |
c.5340A>C
|
p.Lys1780Asn
|
- | 3.0 |
|
B | |
| 8899 | chr1 | 158636020 | C | A |
c.5325G>T
|
p.Met1775Ile
|
- | 3.0 |
|
B | |
| 573 | chr1 | 158636692 | C | A |
c.5259G>T
|
p.Lys1753Asn
|
- | 3.0 |
|
B | |
| 1362 | chr1 | 158636721 | C | G |
c.5230G>C
|
p.Asp1744His
|
- | 3.0 |
|
B | |
| 22491 | chr1 | 158636722 | T | A |
c.5229A>T
|
p.Arg1743Ser
|
- | 3.0 |
|
B | |
| 7049 | chr1 | 158636756 | T | A |
c.5195A>T
|
p.Lys1732Met
|
- | 3.0 |
|
B | |
| 6474 | chr1 | 158636756 | T | G |
c.5195A>C
|
p.Lys1732Thr
|
3.0 |
|
B | ||
| 18539 | chr1 | 158636760 | C | T |
c.5191G>A
|
p.Glu1731Lys
|
- | 3.0 |
|
B | |
| 16141 | chr1 | 158636765 | A | C |
c.5190-4T>G
|
-
|
- | 3.0 |
|
B | |
| 4222 | chr1 | 158638103 | C | T |
c.5119G>A
|
p.Glu1707Lys
|
3.0 |
|
B | ||
| 7474 | chr1 | 158638112 | C | A |
c.5110G>T
|
p.Ala1704Ser
|
- | 3.0 |
|
B |