Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30896 | chr6 | 32845748 | G | T |
c.2078C>A
-
|
p.Ser693Tyr
-
|
- | 3.0 |
|
B | |
| 25348 | chr6 | 32847052 | A | T |
c.2040+16T>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 1017 | chr6 | 32847184 | G | A |
c.1924C>T
-
|
p.Gln642Ter
-
|
- | 3.0 |
|
B | |
| 8738 | chr6 | 32847539 | G | C |
c.1877C>G
-
|
p.Ser626Cys
-
|
- | 3.0 |
|
B | |
| 35514 | chr6 | 32847617 | G | C |
c.1799C>G
-
|
p.Ala600Gly
-
|
- | 3.0 |
|
B | |
| 8774 | chr6 | 32848788 | TTC | T |
c.1428_1429del
-
|
p.Lys477AsnfsTer3
-
|
- | 3.0 |
|
B | |
| 35180 | chr6 | 32848792 | C | G |
c.1426G>C
-
|
p.Glu476Gln
-
|
- | 3.0 |
|
B | |
| 11463 | chr6 | 32850343 | C | A |
c.1225G>T
-
|
p.Ala409Ser
-
|
- | 3.0 |
|
B | |
| 26111 | chr6 | 32851059 | C | T |
c.935G>A
-
|
p.Arg312Gln
-
|
3.0 |
|
B | ||
| 23207 | chr6 | 32851086 | A | C |
c.908T>G
-
|
p.Leu303Arg
-
|
- | 3.0 |
|
B | |
| 7717 | chr6 | 32851156 | G | A |
c.845-7C>T
-
|
-
-
|
2.5 |
|
B | ||
| 25499 | chr6 | 32852214 | C | T |
c.739G>A
-
|
p.Gly247Arg
-
|
3.0 |
|
B | ||
| 8991 | chr6 | 32853128 | C | G |
c.509G>C
-
|
p.Gly170Ala
-
|
- | 3.0 |
|
B | |
| 14455 | chr6 | 32853708 | G | C |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 34506 | chr6 | 32969284 | A | G |
c.-1305+228A>G
|
-
|
- | 3.0 |
|
B | |
| 15914 | chr6 | 32971844 | T | A |
c.-1055T>A
|
-
|
- | 3.0 |
|
B | |
| 31661 | chr6 | 32974512 | C | T |
c.80C>T
|
p.Ala27Val
|
- | 3.0 |
|
B | |
| 26181 | chr6 | 32975397 | T | G |
c.347T>G
|
p.Ile116Ser
|
3.0 |
|
B | ||
| 32566 | chr6 | 32976332 | T | G |
c.693T>G
|
p.Pro231=
|
- | 3.0 |
|
B | |
| 21222 | chr6 | 32976363 | C | T |
c.724C>T
|
p.His242Tyr
|
- | 3.0 |
|
B |