Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14759 | chr12 | 56101265 | C | T |
c.3406C>T
-
|
p.Arg1136Cys
-
|
3.0 |
|
B | ||
| 7339 | chr12 | 56101793 | C | T |
c.3767C>T
-
|
p.Pro1256Leu
-
|
- | 3.0 |
|
B | |
| 834 | chr12 | 56102003 | C | T |
c.3977C>T
-
|
p.Pro1326Leu
-
|
3.0 |
|
B | ||
| 20757 | chr12 | 56712806 | C | G |
c.6202G>C
|
p.Asp2068His
|
- | 3.0 |
|
B | |
| 25538 | chr12 | 56716287 | G | A |
c.5243C>T
|
p.Thr1748Ile
|
- | 3.0 |
|
B | |
| 30193 | chr12 | 56717061 | G | A |
c.4469C>T
|
p.Pro1490Leu
|
3.0 |
|
B | ||
| 22675 | chr12 | 56718355 | T | G |
c.3175A>C
|
p.Thr1059Pro
|
1.0 |
|
B | ||
| 15201 | chr12 | 56720313 | G | A |
c.1217C>T
|
p.Ser406Leu
|
3.0 |
|
B | ||
| 13808 | chr12 | 56720391 | G | A |
c.1139C>T
|
p.Ser380Phe
|
- | 3.0 |
|
B | |
| 13809 | chr12 | 56720496 | G | A |
c.1034C>T
|
p.Ser345Phe
|
- | 3.0 |
|
B | |
| 13810 | chr12 | 56720499 | G | A |
c.1031C>T
|
p.Ser344Phe
|
3.0 |
|
B | ||
| 13811 | chr12 | 56720625 | G | A |
c.905C>T
|
p.Pro302Leu
|
3.0 |
|
B | ||
| 16800 | chr12 | 56721283 | G | A |
c.247C>T
|
p.Pro83Ser
|
- | 3.0 |
|
B | |
| 33403 | chr12 | 56721353 | T | TGA |
c.175_176dup
|
p.Ala60GlnfsTer20
|
- | 3.0 |
|
B | |
| 23961 | chr12 | 56721395 | G | C |
c.135C>G
|
p.Leu45=
|
- | 3.0 |
|
B | |
| 5743 | chr12 | 57015692 | G | A |
c.106C>T
|
p.Arg36Cys
|
3.0 |
|
B | ||
| 20075 | chr12 | 57028788 | CT | C |
c.3098del
|
p.Lys1033ArgfsTer8
|
3.0 |
|
B | ||
| 30262 | chr12 | 57091138 | G | C |
-
c.97G>C
|
-
p.Ala33Pro
|
- | 3.0 |
|
B | |
| 29426 | chr12 | 57091181 | G | A |
-
c.140G>A
|
-
p.Arg47Gln
|
3.0 |
|
B | ||
| 21494 | chr12 | 57091193 | G | A |
-
c.152G>A
|
-
p.Arg51His
|
3.0 |
|
B |