Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2416 | chr12 | 132673628 | G | A |
c.1306C>T
|
p.Pro436Ser
|
3.0 |
|
B | ||
| 16004 | chr12 | 132673664 | G | A |
c.1270C>T
|
p.Leu424Phe
|
3.0 |
|
B | ||
| 28004 | chr12 | 132673703 | C | A |
c.1231G>T
|
p.Val411Leu
|
3.0 |
|
B | ||
| 11255 | chr12 | 132675381 | T | A |
c.1226+17A>T
|
-
|
- | 3.0 |
|
B | |
| 32584 | chr12 | 132675400 | G | A |
c.1224C>T
|
p.Leu408=
|
- | 2.0 |
|
B | |
| 26305 | chr12 | 132675501 | G | A |
c.1123C>T
|
p.Arg375Trp
|
3.0 |
|
B | ||
| 1846 | chr12 | 132675517 | C | T |
c.1107G>A
|
p.Trp369Ter
|
3.5 |
|
B | ||
| 32585 | chr12 | 132675537 | G | C |
c.1107-20C>G
|
-
|
- | 2.0 |
|
B | |
| 9308 | chr12 | 132675805 | T | A |
c.1036A>T
|
p.Arg346Trp
|
- | 3.0 |
|
B | |
| 32586 | chr12 | 132675809 | G | C |
c.1032C>G
|
p.Ile344Met
|
- | 3.0 |
|
B | |
| 28419 | chr12 | 132675830 | A | C |
c.1021-10T>G
|
-
|
- | 3.0 |
|
B | |
| 9440 | chr12 | 132676135 | C | T |
c.979G>A
|
p.Glu327Lys
|
3.0 |
|
B | ||
| 690 | chr12 | 132676148 | G | T |
c.966C>A
|
p.Phe322Leu
|
- | 3.5 |
|
B | |
| 35339 | chr12 | 132676598 | G | C |
c.857C>G
|
p.Pro286Arg
|
3.0 |
|
B | ||
| 19091 | chr12 | 132676608 | G | T |
c.847C>A
|
p.Leu283Ile
|
- | 3.0 |
|
B | |
| 14955 | chr12 | 132676652 | T | C |
c.803A>G
|
p.Asp268Gly
|
3.0 |
|
B | ||
| 5493 | chr12 | 132677631 | C | T |
c.667G>A
|
p.Glu223Lys
|
3.0 |
|
B | ||
| 34624 | chr12 | 132679602 | T | A |
c.473A>T
|
p.His158Leu
|
- | 3.0 |
|
B | |
| 14136 | chr12 | 132680015 | G | A |
c.362C>T
|
p.Ser121Phe
|
- | 3.0 |
|
B | |
| 32769 | chr12 | 132681188 | G | A |
c.154C>T
|
p.Arg52Trp
|
2.5 |
|
B |