Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30443 | chr1 | 158642481 | T | C |
c.4667A>G
|
p.His1556Arg
|
- | 3.0 |
|
B | |
| 4012 | chr1 | 158642509 | C | T |
c.4639G>A
|
p.Glu1547Lys
|
- | 3.0 |
|
B | |
| 16941 | chr1 | 158642518 | A | T |
c.4630T>A
|
p.Phe1544Ile
|
- | 3.0 |
|
B | |
| 861 | chr1 | 158642549 | G | A |
c.4606-7C>T
|
-
|
- | 3.0 |
|
B | |
| 13820 | chr1 | 158642828 | C | T |
c.4591G>A
|
p.Ala1531Thr
|
3.0 |
|
B | ||
| 14100 | chr1 | 158642874 | C | T |
c.4545G>A
|
p.Trp1515Ter
|
- | 3.0 |
|
B | |
| 8657 | chr1 | 158642915 | G | T |
c.4504C>A
|
p.Leu1502Ile
|
- | 3.0 |
|
B | |
| 20848 | chr1 | 158642941 | C | T |
c.4478G>A
|
p.Arg1493Gln
|
3.0 |
|
B | ||
| 26689 | chr1 | 158642966 | G | A |
c.4453C>T
|
p.Leu1485Phe
|
1.0 |
|
B | ||
| 10851 | chr1 | 158642980 | G | T |
c.4443-4C>A
|
-
|
3.0 |
|
B | ||
| 13242 | chr1 | 158642985 | C | T |
c.4443-9G>A
|
-
|
2.5 |
|
B | ||
| 6961 | chr1 | 158643332 | C | A |
c.4432G>T
|
p.Val1478Leu
|
- | 3.0 |
|
B | |
| 21478 | chr1 | 158643334 | C | T |
c.4430G>A
|
p.Arg1477His
|
3.0 |
|
B | ||
| 32557 | chr1 | 158643344 | G | A |
c.4420C>T
|
p.Arg1474Trp
|
3.0 |
|
B | ||
| 26402 | chr1 | 158643360 | T | G |
c.4404A>C
|
p.Lys1468Asn
|
- | 3.0 |
|
B | |
| 18540 | chr1 | 158643377 | C | T |
c.4387G>A
|
p.Asp1463Asn
|
- | 3.0 |
|
B | |
| 23820 | chr1 | 158644233 | C | T |
c.4338+20G>A
|
-
|
- | 3.0 |
|
B | |
| 14580 | chr1 | 158644239 | C | T |
c.4338+14G>A
|
-
|
- | 3.0 |
|
B | |
| 6584 | chr1 | 158644266 | G | A |
c.4325C>T
|
p.Ala1442Val
|
- | 3.0 |
|
B | |
| 7246 | chr1 | 158644266 | GC | G |
c.4324del
|
p.Ala1442GlnfsTer12
|
- | 3.0 |
|
B |