Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26815 | chr12 | 45839498 | T | C |
c.1498+2T>C
|
p.?
|
- | 4.0 |
|
B | |
| 30634 | chr12 | 45846862 | G | A |
c.1505G>A
|
p.Arg502Lys
|
3.0 |
|
B | ||
| 8159 | chr12 | 45848835 | G | C |
c.1581-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 12883 | chr12 | 45848879 | C | T |
c.1624C>T
|
p.Arg542Ter
|
- | 4.0 |
|
B | |
| 18498 | chr12 | 45848969 | A | T |
c.1714A>T
|
p.Arg572Ter
|
- | 4.0 |
|
B | |
| 6018 | chr12 | 45849599 | A | G |
c.1735A>G
|
p.Thr579Ala
|
- | 3.0 |
|
B | |
| 34911 | chr12 | 45849665 | C | CG |
c.1803dup
|
p.Arg602GlufsTer24
|
- | 4.0 |
|
B | |
| 28591 | chr12 | 45849758 | C | T |
c.1894C>T
|
p.Pro632Ser
|
- | 3.0 |
|
B | |
| 5660 | chr12 | 45849762 | C | T |
c.1898C>T
|
p.Ala633Val
|
- | 3.0 |
|
B | |
| 30672 | chr12 | 45849765 | C | G |
c.1901C>G
|
p.Pro634Arg
|
3.0 |
|
B | ||
| 34618 | chr12 | 45850081 | C | T |
c.1958C>T
|
p.Thr653Ile
|
3.0 |
|
B | ||
| 1399 | chr12 | 45850102 | C | G |
c.1979C>G
|
p.Ser660Ter
|
- | 4.5 |
|
B | |
| 30635 | chr12 | 45850280 | C | G |
c.2157C>G
|
p.Ile719Met
|
3.0 |
|
B | ||
| 30906 | chr12 | 45850296 | C | T |
c.2173C>T
|
p.Gln725Ter
|
- | 4.5 |
|
B | |
| 30636 | chr12 | 45850401 | C | G |
c.2278C>G
|
p.Gln760Glu
|
- | 3.5 |
|
B | |
| 30850 | chr12 | 45850438 | A | G |
c.2315A>G
|
p.Gln772Arg
|
- | 3.0 |
|
B | |
| 33331 | chr12 | 45850539 | C | T |
c.2416C>T
|
p.Gln806Ter
|
4.0 |
|
B | ||
| 13026 | chr12 | 45850669 | C | T |
c.2546C>T
|
p.Ala849Val
|
3.0 |
|
B | ||
| 30637 | chr12 | 45850684 | TA | T |
c.2563del
|
p.Thr855GlnfsTer18
|
- | 4.0 |
|
B | |
| 24455 | chr12 | 45850717 | C | T |
c.2594C>T
|
p.Thr865Ile
|
- | 3.0 |
|
B |