Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34505 | chr5 | 50795273 | G | T |
c.1284G>T
|
p.Leu428Phe
|
3.0 |
|
B | ||
| 3529 | chr5 | 54519185 | T | A |
c.1233T>A
|
p.Leu411=
|
- | 3.0 |
|
B | |
| 4400 | chr5 | 55274638 | T | A |
c.2666A>T
|
p.Asn889Ile
|
- | 3.0 |
|
B | |
| 19585 | chr5 | 55307858 | GAA | G |
-
-
|
-
-
|
3.0 |
|
B | ||
| 4660 | chr5 | 55815138 | T | A |
c.1953T>A
|
p.His651Gln
|
- | 3.0 |
|
B | |
| 12497 | chr5 | 55941635 | G | A |
c.2204C>T
|
p.Ser735Leu
|
3.0 |
|
B | ||
| 24095 | chr5 | 55952236 | G | A |
c.1552+14C>T
|
-
|
3.0 |
|
B | ||
| 32929 | chr5 | 55957311 | T | A |
c.974-20A>T
|
-
|
- | 3.0 |
|
B | |
| 18094 | chr5 | 55963377 | G | A |
c.788C>T
|
p.Thr263Ile
|
3.0 |
|
B | ||
| 13273 | chr5 | 55964224 | TGTTGACAAAATA | T |
c.568_579del
|
p.Tyr190_Asn193del
|
- | 3.0 |
|
B | |
| 4661 | chr5 | 55968390 | G | A |
c.377C>T
|
p.Pro126Leu
|
- | 3.0 |
|
B | |
| 16139 | chr5 | 56815762 | C | T |
c.189C>T
|
p.Arg63=
|
- | 3.0 |
|
B | |
| 23466 | chr5 | 56815800 | A | T |
c.227A>T
|
p.Gln76Leu
|
- | 3.0 |
|
B | |
| 23672 | chr5 | 56815801 | G | T |
c.228G>T
|
p.Gln76His
|
- | 3.0 |
|
B | |
| 3982 | chr5 | 56815845 | C | T |
c.272C>T
|
p.Pro91Leu
|
3.0 |
|
B | ||
| 33317 | chr5 | 56816061 | C | T |
c.482+6C>T
|
-
|
- | 3.0 |
|
B | |
| 35674 | chr5 | 56856591 | G | A |
c.483-9G>A
|
-
|
- | 3.0 |
|
B | |
| 9073 | chr5 | 56859878 | C | T |
c.797C>T
|
p.Ser266Phe
|
- | 3.0 |
|
B | |
| 22117 | chr5 | 56859897 | AAG | A |
c.819_820del
|
p.Arg273SerfsTer27
|
- | 4.0 |
|
B | |
| 26658 | chr5 | 56864845 | CTG | C |
c.948_949del
|
p.Tyr317LeufsTer8
|
- | 4.0 |
|
B |