Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32351 | chr6 | 1313633 | C | T |
c.929C>T
|
p.Ala310Val
|
3.0 |
|
B | ||
| 22047 | chr6 | 1313916 | A | T |
c.1212A>T
|
p.Ter404CysextTer28
|
- | 3.0 |
|
B | |
| 19867 | chr6 | 1612184 | TA | T |
c.*89del
|
-
|
3.0 |
|
B | ||
| 5175 | chr6 | 2688921 | G | A |
c.271C>T
|
p.Arg91Cys
|
3.0 |
|
B | ||
| 5176 | chr6 | 4996387 | G | A |
c.593C>T
|
p.Ser198Phe
|
- | 3.0 |
|
B | |
| 7525 | chr6 | 7373471 | C | A |
c.1348G>T
|
p.Glu450Ter
|
- | 3.0 |
|
B | |
| 2762 | chr6 | 7398702 | C | T |
c.442C>T
|
p.Arg148Cys
|
3.0 |
|
B | ||
| 21270 | chr6 | 7541897 | C | T |
c.-19C>T
|
-
|
3.0 |
|
B | ||
| 32265 | chr6 | 7541966 | G | T |
c.51G>T
|
p.Met17Ile
|
- | 3.0 |
|
B | |
| 14734 | chr6 | 7542053 | C | T |
c.138C>T
|
p.Gly46=
|
- | 2.5 |
|
B | |
| 18299 | chr6 | 7558129 | G | A |
c.287G>A
|
p.Gly96Glu
|
- | 3.0 |
|
B | |
| 13215 | chr6 | 7558284 | G | A |
c.422+20G>A
|
-
|
- | 3.0 |
|
B | |
| 17278 | chr6 | 7559239 | C | T |
c.436C>T
|
p.Gln146Ter
|
- | 3.0 |
|
B | |
| 13967 | chr6 | 7562748 | C | T |
c.694C>T
|
p.Arg232Cys
|
2.5 |
|
B | ||
| 21857 | chr6 | 7563729 | C | A |
c.727-7C>A
|
-
|
- | 3.0 |
|
B | |
| 34586 | chr6 | 7566408 | A | T |
c.971A>T
|
p.Lys324Ile
|
- | 3.0 |
|
B | |
| 16508 | chr6 | 7567465 | G | A |
c.1140+16G>A
|
-
|
- | 3.0 |
|
B | |
| 29138 | chr6 | 7568470 | C | T |
c.1300C>T
|
p.Gln434Ter
|
- | 3.0 |
|
B | |
| 22597 | chr6 | 7568522 | G | C |
c.1352G>C
|
p.Arg451Pro
|
- | 3.0 |
|
B | |
| 35644 | chr6 | 7569202 | G | A |
c.1436G>A
|
p.Gly479Glu
|
- | 3.0 |
|
B |