Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6529 | chr3 | 43605720 | CT | C |
c.132del
|
p.Asp45MetfsTer12
|
3.0 |
|
B | ||
| 3363 | chr3 | 44641988 | A | T |
c.858A>T
|
p.Arg286Ser
|
3.0 |
|
B | ||
| 11208 | chr3 | 45091356 | C | T |
c.1810G>A
|
p.Ala604Thr
|
3.0 |
|
B | ||
| 3384 | chr3 | 46266062 | G | C |
c.904G>C
|
p.Ala302Pro
|
- | 3.0 |
|
B | |
| 12624 | chr3 | 46357512 | C | T |
c.-16C>T
|
-
|
- | 3.0 |
|
B | |
| 32759 | chr3 | 46357646 | T | A |
c.119T>A
|
p.Ile40Asn
|
- | 3.0 |
|
B | |
| 29690 | chr3 | 46357759 | G | T |
c.232G>T
|
p.Asp78Tyr
|
- | 3.0 |
|
B | |
| 33415 | chr3 | 46357894 | G | A |
c.367G>A
|
p.Gly123Ser
|
3.0 |
|
B | ||
| 7293 | chr3 | 46357924 | C | T |
c.397C>T
|
p.Leu133Phe
|
- | 3.0 |
|
B | |
| 13878 | chr3 | 46357948 | G | C |
c.421G>C
|
p.Ala141Pro
|
- | 3.0 |
|
B | |
| 32780 | chr3 | 46358123 | A | G |
c.596A>G
|
p.Asn199Ser
|
- | 3.0 |
|
B | |
| 33167 | chr3 | 46358345 | G | A |
c.818G>A
|
p.Gly273Asp
|
- | 3.0 |
|
B | |
| 22691 | chr3 | 46358427 | C | G |
c.900C>G
|
p.Ile300Met
|
- | 3.0 |
|
B | |
| 23837 | chr3 | 46358478 | G | A |
c.951G>A
|
p.Ser317=
|
3.0 |
|
B | ||
| 17928 | chr3 | 46358488 | C | T |
c.961C>T
|
p.Arg321Ter
|
3.0 |
|
B | ||
| 12856 | chr3 | 46359853 | G | A |
c.*1243G>A
|
-
|
- | 3.0 |
|
B | |
| 18513 | chr3 | 46372891 | G | C |
c.-11-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 19872 | chr3 | 46372919 | C | T |
c.17C>T
|
p.Ser6Leu
|
- | 3.0 |
|
B | |
| 21266 | chr3 | 46373123 | T | A |
c.221T>A
|
p.Ile74Asn
|
- | 3.0 |
|
B | |
| 34574 | chr3 | 46373196 | T | A |
c.294T>A
|
p.Asn98Lys
|
- | 3.0 |
|
B |