Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29154 | chr5 | 150080284 | G | T |
c.360C>A
|
p.Asp120Glu
|
- | 3.0 |
|
B | |
| 17727 | chr5 | 150080348 | G | A |
c.308-12C>T
|
-
|
2.0 |
|
B | ||
| 2893 | chr5 | 150080964 | G | A |
c.110C>T
|
p.Thr37Met
|
2.5 |
|
B | ||
| 4271 | chr5 | 150086366 | G | A |
c.49+13C>T
|
-
|
2.5 |
|
B | ||
| 23631 | chr5 | 150086447 | C | G |
c.-20G>C
|
-
|
3.0 |
|
B | ||
| 30481 | chr5 | 150115786 | C | T |
c.3298G>A
|
p.Glu1100Lys
|
- | 3.0 |
|
B | |
| 5363 | chr5 | 150115917 | G | A |
c.3167C>T
|
p.Ser1056Leu
|
- | 3.0 |
|
B | |
| 21307 | chr5 | 150115941 | G | T |
c.3143C>A
|
p.Thr1048Asn
|
- | 3.0 |
|
B | |
| 35269 | chr5 | 150117599 | C | A |
c.3137+19G>T
|
-
|
- | 3.0 |
|
B | |
| 32017 | chr5 | 150117649 | C | A |
c.3106G>T
|
p.Gly1036Cys
|
- | 3.0 |
|
B | |
| 18572 | chr5 | 150118858 | G | A |
c.2799-6C>T
|
-
|
- | 3.0 |
|
B | |
| 14196 | chr5 | 150118862 | G | A |
c.2799-10C>T
|
-
|
- | 3.0 |
|
B | |
| 20882 | chr5 | 150120876 | G | A |
c.2586+12C>T
|
-
|
3.0 |
|
B | ||
| 16723 | chr5 | 150120880 | G | A |
c.2586+8C>T
|
-
|
- | 3.0 |
|
B | |
| 30116 | chr5 | 150121907 | C | T |
c.2317G>A
|
p.Ala773Thr
|
- | 3.0 |
|
B | |
| 1622 | chr5 | 150123089 | G | A |
c.2136C>T
|
p.Ser712=
|
2.5 |
|
B | ||
| 25094 | chr5 | 150124244 | C | T |
c.2023+6G>A
|
-
|
3.0 |
|
B | ||
| 12948 | chr5 | 150124756 | G | A |
c.1883C>T
|
p.Thr628Met
|
2.5 |
|
B | ||
| 29073 | chr5 | 150125508 | C | T |
c.1744G>A
|
p.Val582Met
|
3.0 |
|
B | ||
| 16322 | chr5 | 150126502 | G | A |
c.1674+18C>T
|
-
|
3.0 |
|
B |