Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19070 | chr8 | 118110487 | C | A |
c.560G>T
|
p.Gly187Val
|
- | 3.0 |
|
B | |
| 960 | chr8 | 118110610 | G | A |
c.437C>T
|
p.Ser146Leu
|
3.0 |
|
B | ||
| 8348 | chr8 | 118110695 | C | T |
c.352G>A
|
p.Val118Ile
|
3.0 |
|
B | ||
| 32958 | chr8 | 118110734 | C | G |
c.313G>C
|
p.Asp105His
|
- | 3.0 |
|
B | |
| 4503 | chr8 | 119106142 | G | A |
c.785G>A
|
p.Cys262Tyr
|
- | 3.0 |
|
B | |
| 4504 | chr8 | 119831695 | G | A |
c.120C>T
-
|
p.Phe40=
-
|
- | 3.0 |
|
B | |
| 3425 | chr8 | 127416671 | G | A |
c.805G>A
|
p.Glu269Lys
|
3.0 |
|
B | ||
| 4505 | chr8 | 127416773 | C | T |
c.907C>T
|
p.Pro303Ser
|
3.0 |
|
B | ||
| 20786 | chr8 | 127736094 | C | T |
-
|
-
|
- | 3.0 |
|
B | |
| 27380 | chr8 | 127736101 | C | G |
-
|
-
|
- | 3.0 |
|
B | |
| 17078 | chr8 | 127736262 | A | G |
c.-332A>G
|
-
|
- | 3.0 |
|
B | |
| 16762 | chr8 | 127736369 | G | A |
c.-225G>A
|
-
|
- | 3.0 |
|
B | |
| 30488 | chr8 | 127736470 | A | AG |
c.-124_-123insG
|
-
|
- | 3.0 |
|
B | |
| 30489 | chr8 | 127736471 | C | A |
c.-123C>A
|
-
|
- | 3.0 |
|
B | |
| 6538 | chr8 | 127738266 | C | A |
c.49C>A
|
p.Pro17Thr
|
- | 3.0 |
|
B | |
| 11575 | chr8 | 127738352 | C | T |
c.135C>T
|
p.Asn45=
|
- | 3.0 |
|
B | |
| 19616 | chr8 | 127738393 | C | T |
c.176C>T
|
p.Ala59Val
|
3.5 |
|
B | ||
| 19617 | chr8 | 127738526 | C | T |
c.309C>T
|
p.Gly103=
|
- | 3.0 |
|
B | |
| 3123 | chr8 | 127738559 | G | T |
c.342G>T
|
p.Leu114=
|
- | 3.0 |
|
B | |
| 29117 | chr8 | 127738747 | C | T |
c.530C>T
|
p.Pro177Leu
|
3.0 |
|
B |