Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31856 | chr12 | 22661073 | G | C |
c.568G>C
|
p.Asp190His
|
- | 3.0 |
|
B | |
| 3135 | chr12 | 22661102 | A | C |
c.597A>C
|
p.Glu199Asp
|
3.0 |
|
B | ||
| 12831 | chr12 | 22684937 | T | A |
c.1075T>A
|
p.Leu359Ile
|
- | 3.0 |
|
B | |
| 650 | chr12 | 25209816 | C | G |
c.546G>C
-
|
p.Lys182Asn
-
|
- | 3.0 |
|
B | |
| 15018 | chr12 | 25209823 | TTC | T |
c.537_538del
-
|
p.Lys180ValfsTer31
-
|
- | 3.0 |
|
B | |
| 36 | chr12 | 25209871 | C | T |
c.491G>A
-
|
p.Arg164Gln
-
|
3.0 |
|
B | ||
| 4430 | chr12 | 25209902 | C | T |
c.460G>A
-
|
p.Asp154Asn
-
|
- | 3.0 |
|
B | |
| 22626 | chr12 | 25225614 | C | T |
c.450G>A
|
p.Gln150=
|
- | 3.0 |
|
B | |
| 11702 | chr12 | 25225627 | G | A |
c.437C>T
|
p.Ala146Val
|
4.5 |
|
B | ||
| 20061 | chr12 | 25225628 | C | G |
c.436G>C
|
p.Ala146Pro
|
4.0 |
|
B | ||
| 742 | chr12 | 25225628 | C | T |
c.436G>A
|
p.Ala146Thr
|
4.0 |
|
B | ||
| 6726 | chr12 | 25225713 | T | A |
c.351A>T
|
p.Lys117Asn
|
4.5 |
|
B | ||
| 20513 | chr12 | 25225713 | T | G |
c.351A>C
|
p.Lys117Asn
|
4.5 |
|
B | ||
| 24833 | chr12 | 25225714 | T | C |
c.350A>G
|
p.Lys117Arg
|
- | 3.5 |
|
B | |
| 37 | chr12 | 25227330 | C | A |
c.194G>T
|
p.Ser65Ile
|
3.57 |
|
S | ||
| 18684 | chr12 | 25227337 | C | CCTCTTGACCTGCTGTGTCGAG |
c.166_186dup
|
p.Leu56_Glu62dup
|
- | 3.5 |
|
B | |
| 5519 | chr12 | 25227341 | T | A |
c.183A>T
|
p.Gln61His
|
4.0 |
|
B | ||
| 918 | chr12 | 25227341 | T | G |
c.183A>C
|
p.Gln61His
|
4.5 |
|
B | ||
| 2431 | chr12 | 25227342 | T | A |
c.182A>T
|
p.Gln61Leu
|
4.5 |
|
B | ||
| 708 | chr12 | 25227342 | T | C |
c.182A>G
|
p.Gln61Arg
|
4.5 |
|
B |