Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4805 | chr12 | 49031861 | G | A |
c.12844C>T
|
p.Arg4282Ter
|
3.5 |
|
B | ||
| 10621 | chr12 | 49031950 | G | A |
c.12755C>T
|
p.Pro4252Leu
|
- | 3.0 |
|
B | |
| 2031 | chr12 | 49032017 | G | A |
c.12688C>T
|
p.Gln4230Ter
|
4.0 |
|
B | ||
| 34738 | chr12 | 49032077 | G | A |
c.12628C>T
|
p.Gln4210Ter
|
- | 4.0 |
|
B | |
| 33010 | chr12 | 49032098 | C | A |
c.12607G>T
|
p.Gly4203Ter
|
- | 4.0 |
|
B | |
| 9677 | chr12 | 49032393 | T | G |
c.12312A>C
|
p.Gln4104His
|
- | 3.0 |
|
B | |
| 6230 | chr12 | 49032487 | G | C |
c.12218C>G
|
p.Ser4073Ter
|
- | 4.0 |
|
B | |
| 33478 | chr12 | 49032551 | C | A |
c.12154G>T
|
p.Gly4052Ter
|
- | 4.0 |
|
B | |
| 23121 | chr12 | 49032644 | GGA | G |
c.12059_12060del
|
p.Leu4020ProfsTer19
|
- | 4.0 |
|
B | |
| 9507 | chr12 | 49032760 | C | T |
c.11945G>A
|
p.Arg3982Gln
|
2.5 |
|
B | ||
| 7906 | chr12 | 49032794 | GCTGCTGCTGTTGAAA | G |
c.11896_11910del
|
p.Phe3966_Gln3970del
|
3.5 |
|
B | ||
| 6817 | chr12 | 49032896 | GCTGT | G |
c.11805_11808del
|
p.Gln3935HisfsTer43
|
- | 3.5 |
|
B | |
| 33583 | chr12 | 49032926 | G | GA |
c.11778dup
|
p.Gln3927SerfsTer85
|
- | 4.0 |
|
B | |
| 7821 | chr12 | 49033189 | TGGGGGGAACTGAGCACCC | T |
c.11498_11515del
|
p.Arg3833_Pro3838del
|
- | 3.5 |
|
B | |
| 26390 | chr12 | 49033218 | C | G |
c.11487G>C
|
p.Met3829Ile
|
- | 3.0 |
|
B | |
| 32190 | chr12 | 49033406 | G | A |
c.11299C>T
|
p.Gln3767Ter
|
- | 4.0 |
|
B | |
| 9395 | chr12 | 49033678 | G | A |
c.11027C>T
|
p.Ala3676Val
|
- | 3.0 |
|
B | |
| 10460 | chr12 | 49033805 | G | A |
c.10900C>T
|
p.Gln3634Ter
|
- | 4.0 |
|
B | |
| 11887 | chr12 | 49033960 | C | T |
c.10745G>A
|
p.Arg3582Gln
|
- | 3.0 |
|
B | |
| 16798 | chr12 | 49034108 | C | T |
c.10699G>A
|
p.Val3567Ile
|
3.0 |
|
B |