Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11090 | chr12 | 56083847 | T | A |
c.179T>A
|
p.Met60Lys
|
- | 4.0 |
|
B | |
| 13094 | chr12 | 56085005 | A | T |
c.245A>T
|
p.Glu82Val
|
- | 3.0 |
|
B | |
| 18407 | chr12 | 56085062 | A | G |
c.302A>G
|
p.Asn101Ser
|
3.0 |
|
B | ||
| 1244 | chr12 | 56085070 | G | C |
c.310G>C
|
p.Val104Leu
|
- | 3.0 |
|
B | |
| 28194 | chr12 | 56085144 | C | A |
c.384C>A
|
p.Ser128Arg
|
- | 3.0 |
|
B | |
| 23746 | chr12 | 56086520 | C | T |
c.422-11C>T
|
-
|
- | 3.0 |
|
B | |
| 467 | chr12 | 56087837 | T | G |
c.656T>G
|
p.Phe219Cys
|
- | 3.0 |
|
B | |
| 32832 | chr12 | 56087863 | C | G |
c.682C>G
|
p.His228Asp
|
- | 3.0 |
|
B | |
| 32766 | chr12 | 56087876 | C | T |
c.695C>T
|
p.Ala232Val
|
- | 3.5 |
|
B | |
| 13885 | chr12 | 56087891 | G | T |
c.710G>T
|
p.Gly237Val
|
- | 3.0 |
|
B | |
| 7924 | chr12 | 56087915 | T | C |
c.732+2T>C
|
p.?
|
- | 3.0 |
|
B | |
| 6998 | chr12 | 56087920 | A | T |
c.732+7A>T
|
-
|
- | 3.0 |
|
B | |
| 7488 | chr12 | 56088113 | TC | T |
c.829del
|
p.His277ThrfsTer11
|
- | 3.0 |
|
B | |
| 2093 | chr12 | 56088138 | G | C |
c.850G>C
|
p.Gly284Arg
|
- | 3.5 |
|
B | |
| 6913 | chr12 | 56088557 | G | T |
c.889G>T
|
p.Asp297Tyr
|
4.0 |
|
B | ||
| 13195 | chr12 | 56088579 | C | T |
c.911C>T
|
p.Ala304Val
|
- | 3.0 |
|
B | |
| 31545 | chr12 | 56088641 | G | A |
c.973G>A
|
p.Gly325Arg
|
- | 3.0 |
|
B | |
| 14074 | chr12 | 56088753 | G | A |
c.994G>A
|
p.Glu332Lys
|
- | 4.0 |
|
B | |
| 6158 | chr12 | 56088823 | C | T |
c.1064C>T
|
p.Thr355Ile
|
3.5 |
|
B | ||
| 8757 | chr12 | 56088875 | G | A |
c.1109+7G>A
|
-
|
- | 3.0 |
|
B |