Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 838 | chr8 | 127738872 | T | G |
c.655T>G
|
p.Ser219Ala
|
- | 3.0 |
|
B | |
| 7537 | chr8 | 127738881 | T | C |
c.664T>C
|
p.Ser222Pro
|
- | 3.0 |
|
B | |
| 1543 | chr8 | 127738913 | T | C |
c.696T>C
|
p.Ser232=
|
3.0 |
|
B | ||
| 29892 | chr8 | 127738921 | C | T |
c.704C>T
|
p.Ser235Leu
|
- | 3.0 |
|
B | |
| 26809 | chr8 | 127738936 | C | T |
c.719C>T
|
p.Ser240Phe
|
- | 3.0 |
|
B | |
| 15246 | chr8 | 127738949 | C | G |
c.732C>G
|
p.Ser244=
|
- | 3.0 |
|
B | |
| 3223 | chr8 | 127739010 | A | C |
c.793A>C
|
p.Ser265Arg
|
- | 3.0 |
|
B | |
| 21474 | chr8 | 127739025 | C | T |
c.802+6C>T
|
-
|
3.0 |
|
B | ||
| 9468 | chr8 | 127739032 | C | G |
c.802+13C>G
|
-
|
- | 3.0 |
|
B | |
| 22340 | chr8 | 127740392 | A | G |
c.803-4A>G
|
-
|
3.0 |
|
B | ||
| 11921 | chr8 | 127740394 | AGAG | A |
c.807_809del
|
p.Glu270del
|
- | 3.0 |
|
B | |
| 9042 | chr8 | 127740413 | G | A |
c.820G>A
|
p.Glu274Lys
|
3.0 |
|
B | ||
| 3244 | chr8 | 127740418 | A | C |
c.825A>C
|
p.Glu275Asp
|
- | 3.0 |
|
B | |
| 32224 | chr8 | 127740452 | G | A |
c.859G>A
|
p.Ala287Thr
|
- | 3.0 |
|
B | |
| 22755 | chr8 | 127740480 | C | T |
c.887C>T
|
p.Ser296Leu
|
3.0 |
|
B | ||
| 27501 | chr8 | 127740491 | G | A |
c.898G>A
|
p.Gly300Arg
|
- | 3.0 |
|
B | |
| 8827 | chr8 | 127740525 | T | A |
c.932T>A
|
p.Val311Asp
|
- | 3.0 |
|
B | |
| 17613 | chr8 | 127740582 | C | G |
c.989C>G
|
p.Thr330Ser
|
- | 3.0 |
|
B | |
| 16299 | chr8 | 127740597 | C | T |
c.1004C>T
|
p.Pro335Leu
|
3.0 |
|
B | ||
| 5261 | chr8 | 131039574 | T | C |
c.760A>G
|
p.Thr254Ala
|
- | 3.0 |
|
B |