Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8108 | chr3 | 47123555 | C | T |
c.1081G>A
|
p.Glu361Lys
|
- | 3.0 |
|
B | |
| 1923 | chr3 | 47123558 | T | A |
c.1078A>T
|
p.Ser360Cys
|
- | 3.0 |
|
B | |
| 26632 | chr3 | 47123620 | A | T |
c.1016T>A
|
p.Leu339Ter
|
- | 4.0 |
|
B | |
| 6444 | chr3 | 47124008 | C | A |
c.628G>T
|
p.Glu210Ter
|
- | 4.0 |
|
B | |
| 9658 | chr3 | 47124247 | G | C |
c.389C>G
|
p.Ser130Cys
|
- | 3.0 |
|
B | |
| 28795 | chr3 | 47124428 | G | A |
c.208C>T
|
p.Arg70Ter
|
4.0 |
|
B | ||
| 3385 | chr3 | 47849478 | G | A |
-
c.3115G>A
|
-
p.Gly1039Arg
|
- | 3.0 |
|
B | |
| 16023 | chr3 | 48381704 | T | G |
c.990T>G
|
p.Tyr330Ter
|
3.0 |
|
B | ||
| 3773 | chr3 | 48409409 | C | T |
c.6007G>A
|
p.Asp2003Asn
|
- | 3.0 |
|
B | |
| 30095 | chr3 | 48564426 | G | A |
c.8819-4C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 16704 | chr3 | 48565196 | C | T |
c.8533G>A
-
|
p.Val2845Ile
-
|
3.0 |
|
B | ||
| 14278 | chr3 | 48566563 | C | T |
c.8305G>A
-
|
p.Gly2769Arg
-
|
3.0 |
|
B | ||
| 31031 | chr3 | 48567195 | G | A |
c.8047-5C>T
-
|
-
-
|
3.0 |
|
B | ||
| 23955 | chr3 | 48567574 | C | A |
c.8046G>T
-
|
p.Lys2682Asn
-
|
- | 3.0 |
|
B | |
| 3221 | chr3 | 48567869 | G | A |
c.7898C>T
-
|
p.Ala2633Val
-
|
- | 3.0 |
|
B | |
| 8769 | chr3 | 48567873 | C | T |
c.7894G>A
-
|
p.Gly2632Arg
-
|
- | 3.0 |
|
B | |
| 11188 | chr3 | 48568134 | C | T |
c.7831G>A
-
|
p.Gly2611Arg
-
|
- | 3.0 |
|
B | |
| 33615 | chr3 | 48568137 | G | A |
c.7828C>T
-
|
p.Arg2610Ter
-
|
3.0 |
|
B | ||
| 749 | chr3 | 48568160 | C | T |
c.7805G>A
-
|
p.Gly2602Glu
-
|
- | 3.0 |
|
B | |
| 21215 | chr3 | 48568179 | G | A |
c.7795-9C>T
-
|
-
-
|
2.5 |
|
B |