Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15266 | chr12 | 119704410 | C | T |
c.5257G>A
|
p.Val1753Ile
|
3.0 |
|
B | ||
| 25229 | chr12 | 120097265 | G | A |
-
c.586C>T
|
-
p.Arg196Ter
|
- | 3.0 |
|
B | |
| 25240 | chr12 | 120098803 | GGC | G |
-
c.477+6_477+7del
|
-
-
|
- | 3.0 |
|
B | |
| 19172 | chr12 | 120098846 | C | T |
-
c.442G>A
|
-
p.Glu148Lys
|
- | 3.0 |
|
B | |
| 12531 | chr12 | 120098893 | G | A |
-
c.395C>T
|
-
p.Thr132Met
|
3.0 |
|
B | ||
| 32091 | chr12 | 120098936 | C | T |
-
c.353-1G>A
|
-
p.?
|
- | 3.0 |
|
B | |
| 29949 | chr12 | 120103814 | G | A |
c.227+12C>T
|
-
|
3.0 |
|
B | ||
| 4737 | chr12 | 120158024 | G | A |
c.2912C>T
|
p.Ala971Val
|
3.0 |
|
B | ||
| 20384 | chr12 | 120978643 | T | TG |
c.-119dup
|
-
|
3.0 |
|
B | ||
| 26672 | chr12 | 120978671 | G | A |
c.-98G>A
|
-
|
3.0 |
|
B | ||
| 8883 | chr12 | 120978757 | G | T |
c.-12G>T
|
-
|
3.0 |
|
B | ||
| 10509 | chr12 | 120978778 | A | G |
c.10A>G
|
p.Lys4Glu
|
- | 3.0 |
|
B | |
| 12885 | chr12 | 120978783 | G | A |
c.15G>A
|
p.Leu5=
|
- | 3.0 |
|
B | |
| 12641 | chr12 | 120978903 | C | A |
c.135C>A
|
p.Asp45Glu
|
- | 3.0 |
|
B | |
| 21531 | chr12 | 120979074 | C | T |
c.306C>T
|
p.Ala102=
|
2.0 |
|
B | ||
| 8792 | chr12 | 120979100 | G | A |
c.326+6G>A
|
-
|
- | 3.0 |
|
B | |
| 16608 | chr12 | 120979110 | C | T |
c.326+16C>T
|
-
|
- | 3.0 |
|
B | |
| 11396 | chr12 | 120988817 | C | T |
c.327-16C>T
|
-
|
- | 3.0 |
|
B | |
| 23661 | chr12 | 120988985 | C | A |
c.479C>A
|
p.Ala160Asp
|
- | 3.0 |
|
B | |
| 28299 | chr12 | 120993508 | C | T |
c.527-12C>T
|
-
|
- | 3.0 |
|
B |