Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4488 | chr5 | 57481992 | C | T |
c.716G>A
|
p.Arg239Gln
|
3.0 |
|
B | ||
| 24749 | chr5 | 58454758 | T | A |
c.1883A>T
|
p.Asp628Val
|
- | 3.0 |
|
B | |
| 2238 | chr5 | 58455311 | G | A |
c.1729C>T
|
p.His577Tyr
|
- | 3.0 |
|
B | |
| 4300 | chr5 | 58455431 | G | A |
c.1626-17C>T
|
-
|
3.0 |
|
B | ||
| 17938 | chr5 | 58455760 | C | T |
c.1404G>A
|
p.Met468Ile
|
- | 3.0 |
|
B | |
| 4167 | chr5 | 58456090 | C | G |
c.1320G>C
|
p.Gln440His
|
- | 3.0 |
|
B | |
| 4691 | chr5 | 58456534 | C | G |
c.1212G>C
|
p.Lys404Asn
|
- | 3.0 |
|
B | |
| 11334 | chr5 | 58456569 | C | T |
c.1177G>A
|
p.Glu393Lys
|
- | 3.0 |
|
B | |
| 9943 | chr5 | 58456995 | GCAGCTGCTTTCTTAAAGAAATT | G |
c.1084_1105del
|
p.Asn362LeufsTer34
|
- | 3.5 |
|
B | |
| 6471 | chr5 | 58457167 | G | T |
c.1008+14C>A
|
-
|
- | 3.0 |
|
B | |
| 13413 | chr5 | 58457169 | T | C |
c.1008+12A>G
|
-
|
3.0 |
|
B | ||
| 17573 | chr5 | 58457512 | T | C |
c.785A>G
|
p.Asp262Gly
|
- | 3.0 |
|
B | |
| 29625 | chr5 | 58457584 | C | T |
c.714-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 6614 | chr5 | 58457587 | G | A |
c.714-4C>T
|
-
|
3.0 |
|
B | ||
| 3505 | chr5 | 58458181 | AAAC | A |
c.626-13_626-11del
|
-
|
- | 3.0 |
|
B | |
| 17864 | chr5 | 58458816 | C | T |
c.404G>A
|
p.Arg135Lys
|
- | 3.0 |
|
B | |
| 21816 | chr5 | 58459694 | C | T |
c.266G>A
|
p.Gly89Glu
|
- | 3.0 |
|
B | |
| 25595 | chr5 | 58459876 | C | T |
c.84G>A
|
p.Ala28=
|
1.0 |
|
B | ||
| 4826 | chr5 | 60642830 | T | C |
c.739A>G
|
p.Met247Val
|
3.0 |
|
B | ||
| 17117 | chr5 | 62506375 | C | A |
c.1782+18C>A
|
-
|
- | 3.0 |
|
B |