Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4733 | chr12 | 76030782 | T | TTGGGGC |
c.954_959dup
|
p.Pro331_Gln332dup
|
- | 3.0 |
|
B | |
| 12237 | chr12 | 78007228 | TCC | T |
c.1691_1692del
|
p.Ser564PhefsTer3
|
- | 3.0 |
|
B | |
| 3484 | chr12 | 79296079 | G | A |
c.485G>A
|
p.Gly162Glu
|
- | 3.0 |
|
B | |
| 5201 | chr12 | 80352296 | T | C |
c.5267T>C
|
p.Val1756Ala
|
- | 3.0 |
|
B | |
| 3544 | chr12 | 81367122 | A | C |
c.1531T>G
|
p.Ser511Ala
|
- | 3.0 |
|
B | |
| 1567 | chr12 | 85244867 | GA | G |
c.5105del
|
p.Asn1702IlefsTer20
|
1.0 |
|
B | ||
| 24423 | chr12 | 88507087 | C | T |
c.655G>A
|
p.Ala219Thr
|
3.0 |
|
B | ||
| 12675 | chr12 | 88515563 | G | A |
c.575C>T
|
p.Ser192Phe
|
3.0 |
|
B | ||
| 25068 | chr12 | 88532454 | C | T |
c.179G>A
|
p.Gly60Glu
|
- | 3.0 |
|
B | |
| 15830 | chr12 | 88532513 | CA | C |
c.130-11del
|
-
|
2.5 |
|
B | ||
| 20383 | chr12 | 88532513 | CAA | C |
c.130-12_130-11del
|
-
|
3.0 |
|
B | ||
| 22579 | chr12 | 92144380 | G | A |
c.216C>T
|
p.Ile72=
|
- | 3.0 |
|
B | |
| 2215 | chr12 | 92145535 | TGGGGGCGGCGTGC | T |
c.-13_-1del
|
-
|
3.0 |
|
B | ||
| 4734 | chr12 | 92891639 | C | T |
c.107G>A
|
p.Ser36Asn
|
- | 3.0 |
|
B | |
| 24807 | chr12 | 93410849 | G | GATCTGCAGTGCTGGGGACCACTT |
-
c.280_302dup
|
-
p.Arg102SerfsTer19
|
- | 3.0 |
|
B | |
| 22806 | chr12 | 93411132 | G | A |
-
c.198C>T
|
-
p.Ala66=
|
- | 3.0 |
|
B | |
| 22807 | chr12 | 93411143 | G | C |
-
c.187C>G
|
-
p.Pro63Ala
|
- | 3.0 |
|
B | |
| 17142 | chr12 | 93411167 | C | T |
-
c.163G>A
|
-
p.Glu55Lys
|
- | 3.0 |
|
B | |
| 22698 | chr12 | 93411182 | C | T |
-
c.148G>A
|
-
p.Gly50Arg
|
- | 3.0 |
|
B | |
| 28217 | chr12 | 93441882 | C | T |
c.3G>A
|
p.Met1?
|
- | 3.0 |
|
B |