Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7340 | chr12 | 111418213 | C | T |
c.68C>T
|
p.Pro23Leu
|
3.0 |
|
B | ||
| 24335 | chr12 | 111418273 | G | A |
c.128G>A
|
p.Arg43His
|
- | 3.0 |
|
B | |
| 32123 | chr12 | 111418301 | T | C |
c.156T>C
|
p.His52=
|
2.5 |
|
B | ||
| 11093 | chr12 | 111418315 | C | T |
c.170C>T
|
p.Pro57Leu
|
3.0 |
|
B | ||
| 13639 | chr12 | 111418375 | G | A |
c.230G>A
|
p.Arg77His
|
3.0 |
|
B | ||
| 4601 | chr12 | 111418393 | G | T |
c.248G>T
|
p.Arg83Leu
|
- | 3.0 |
|
B | |
| 6617 | chr12 | 111418399 | C | T |
c.254C>T
|
p.Pro85Leu
|
- | 3.0 |
|
B | |
| 1835 | chr12 | 111418501 | G | A |
c.356G>A
|
p.Arg119His
|
3.0 |
|
B | ||
| 8741 | chr12 | 111418629 | G | A |
c.484G>A
|
p.Ala162Thr
|
3.0 |
|
B | ||
| 2161 | chr12 | 111418665 | G | A |
c.520G>A
|
p.Ala174Thr
|
3.0 |
|
B | ||
| 22919 | chr12 | 111418804 | G | A |
c.659G>A
|
p.Gly220Glu
|
- | 3.0 |
|
B | |
| 33703 | chr12 | 111418818 | C | T |
c.673C>T
|
p.Arg225Cys
|
3.0 |
|
B | ||
| 6618 | chr12 | 111418819 | G | GCCGGGCC |
c.685_691dup
|
p.Asp231GlyfsTer39
|
4.0 |
|
B | ||
| 9138 | chr12 | 111446804 | T | C |
c.784T>C
|
p.Trp262Arg
|
1.0 |
|
B | ||
| 28592 | chr12 | 111447125 | G | A |
c.927G>A
|
p.Gly309=
|
- | 2.5 |
|
B | |
| 23615 | chr12 | 111447338 | C | T |
-
c.1030C>T
|
-
p.Pro344Ser
|
- | 3.0 |
|
B | |
| 19726 | chr12 | 111447340 | TG | T |
-
c.1038del
|
-
p.Leu347CysfsTer26
|
4.0 |
|
B | ||
| 1969 | chr12 | 111447415 | C | G |
-
c.1107C>G
|
-
p.Ile369Met
|
- | 3.0 |
|
B | |
| 835 | chr12 | 111447461 | G | A |
-
c.1153G>A
|
-
p.Ala385Thr
|
- | 3.0 |
|
B | |
| 15203 | chr12 | 111447487 | G | C |
-
c.1179G>C
|
-
p.Gln393His
|
- | 3.0 |
|
B |