Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23262 | chr1 | 147613000 | C | G |
c.171C>G
|
p.Ser57Arg
|
- | 3.0 |
|
B | |
| 7294 | chr1 | 147614517 | C | G |
c.461C>G
|
p.Ser154Cys
|
- | 3.0 |
|
B | |
| 14019 | chr1 | 147615868 | C | A |
c.626C>A
|
p.Ser209Tyr
|
- | 3.0 |
|
B | |
| 13733 | chr1 | 147619240 | C | T |
c.1085C>T
|
p.Ser362Phe
|
3.0 |
|
B | ||
| 12870 | chr1 | 147619278 | C | T |
c.1123C>T
|
p.Pro375Ser
|
- | 3.0 |
|
B | |
| 13264 | chr1 | 147619423 | G | A |
c.1268G>A
|
p.Arg423Gln
|
3.0 |
|
B | ||
| 16094 | chr1 | 147619694 | A | AC |
c.1547dup
|
p.Pro517SerfsTer7
|
3.0 |
|
B | ||
| 20272 | chr1 | 147619694 | AC | A |
c.1547del
|
p.Pro516LeufsTer5
|
3.0 |
|
B | ||
| 20720 | chr1 | 147619956 | G | A |
c.1801G>A
|
p.Asp601Asn
|
3.0 |
|
B | ||
| 21582 | chr1 | 147620221 | C | T |
c.2066C>T
|
p.Ser689Phe
|
- | 3.0 |
|
B | |
| 13206 | chr1 | 147620664 | G | T |
c.2509G>T
|
p.Val837Phe
|
- | 3.0 |
|
B | |
| 16677 | chr1 | 147620671 | G | A |
c.2516G>A
|
p.Arg839His
|
3.0 |
|
B | ||
| 30544 | chr1 | 147620682 | C | T |
c.2527C>T
|
p.Arg843Trp
|
3.0 |
|
B | ||
| 29432 | chr1 | 147620694 | G | T |
c.2539G>T
|
p.Asp847Tyr
|
3.0 |
|
B | ||
| 18049 | chr1 | 147620725 | C | T |
c.2570C>T
|
p.Ser857Phe
|
- | 3.0 |
|
B | |
| 20570 | chr1 | 147620835 | G | A |
c.2680G>A
|
p.Gly894Ser
|
3.0 |
|
B | ||
| 35447 | chr1 | 147622490 | C | A |
c.3122C>A
|
p.Pro1041Gln
|
- | 3.0 |
|
B | |
| 33419 | chr1 | 147622550 | A | T |
c.3163+19A>T
|
-
|
- | 3.0 |
|
B | |
| 11288 | chr1 | 147624005 | G | A |
c.3327G>A
|
p.Met1109Ile
|
- | 3.0 |
|
B | |
| 25118 | chr1 | 147624178 | G | T |
c.3500G>T
|
p.Gly1167Val
|
- | 3.0 |
|
B |