Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3414 | chr5 | 111394771 | G | A |
c.448G>A
|
p.Glu150Lys
|
- | 3.0 |
|
B | |
| 24247 | chr5 | 112707585 | CG | C |
c.-76del
|
-
|
3.0 |
|
B | ||
| 26938 | chr5 | 112754963 | CA | C |
c.75del
|
p.Glu26SerfsTer2
|
- | 4.0 |
|
B | |
| 3047 | chr5 | 112767209 | A | G |
c.241A>G
|
p.Asn81Asp
|
- | 3.0 |
|
B | |
| 27758 | chr5 | 112767210 | A | T |
c.242A>T
|
p.Asn81Ile
|
- | 3.0 |
|
B | |
| 23133 | chr5 | 112767219 | G | A |
c.251G>A
|
p.Gly84Glu
|
3.0 |
|
B | ||
| 19454 | chr5 | 112767234 | CA | C |
c.271del
|
p.Met91CysfsTer34
|
4.5 |
|
B | ||
| 23708 | chr5 | 112767269 | G | A |
c.301G>A
|
p.Gly101Arg
|
- | 3.0 |
|
A | |
| 17492 | chr5 | 112767391 | G | A |
c.422+1G>A
|
p.?
|
4.5 |
|
B | ||
| 11304 | chr5 | 112775612 | TA | T |
c.423-4del
|
-
|
2.0 |
|
B | ||
| 19455 | chr5 | 112775612 | TAA | T |
c.423-5_423-4del
|
-
|
2.0 |
|
B | ||
| 17451 | chr5 | 112775613 | A | T |
c.423-16A>T
|
-
|
2.5 |
|
B | ||
| 233 | chr5 | 112775628 | G | T |
c.423-1G>T
|
p.?
|
- | 4.67 |
|
A | |
| 32622 | chr5 | 112775683 | C | G |
c.477C>G
|
p.Tyr159Ter
|
4.5 |
|
B | ||
| 2806 | chr5 | 112780794 | C | T |
c.536C>T
|
p.Ser179Phe
|
3.0 |
|
B | ||
| 29286 | chr5 | 112780832 | G | T |
c.574G>T
|
p.Glu192Ter
|
- | 4.5 |
|
B | |
| 28026 | chr5 | 112780854 | C | T |
c.596C>T
|
p.Ala199Val
|
3.0 |
|
B | ||
| 234 | chr5 | 112780895 | C | T |
c.637C>T
|
p.Arg213Ter
|
4.67 |
|
A | ||
| 24389 | chr5 | 112780904 | G | T |
c.645+1G>T
|
p.?
|
4.5 |
|
B | ||
| 1393 | chr5 | 112792439 | A | T |
c.646-7A>T
|
-
|
3.0 |
|
B |