Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24660 | chr6 | 131598384 | G | C |
c.2510C>G
|
p.Ser837Ter
|
- | 3.0 |
|
B | |
| 5954 | chr6 | 131598725 | G | A |
c.2257C>T
|
p.Arg753Cys
|
- | 3.0 |
|
B | |
| 8894 | chr6 | 131602260 | G | A |
c.2053C>T
|
p.Arg685Ter
|
3.0 |
|
B | ||
| 32541 | chr6 | 131603021 | T | G |
c.1931+9A>C
|
-
|
- | 3.0 |
|
B | |
| 17827 | chr6 | 131603030 | C | T |
c.1931G>A
|
p.Cys644Tyr
|
3.0 |
|
B | ||
| 27318 | chr6 | 131603036 | T | G |
c.1925A>C
|
p.His642Pro
|
- | 3.0 |
|
B | |
| 9186 | chr6 | 131603085 | G | C |
c.1876C>G
|
p.His626Asp
|
- | 3.0 |
|
B | |
| 29139 | chr6 | 131603157 | GTAAGA | G |
c.1799_1803del
|
p.Ile600ThrfsTer5
|
- | 3.0 |
|
B | |
| 14548 | chr6 | 131604177 | C | A |
c.1756+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 11510 | chr6 | 131604198 | A | G |
c.1736T>C
|
p.Leu579Ser
|
- | 3.0 |
|
B | |
| 22872 | chr6 | 131608065 | C | T |
c.1084G>A
|
p.Gly362Arg
|
- | 3.0 |
|
B | |
| 5330 | chr6 | 131610186 | C | A |
c.937G>T
|
p.Glu313Ter
|
- | 3.0 |
|
B | |
| 5331 | chr6 | 131610187 | C | G |
c.936G>C
|
p.Met312Ile
|
- | 3.0 |
|
B | |
| 2930 | chr6 | 131621880 | C | A |
c.495+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 2558 | chr6 | 131623379 | C | T |
c.368G>A
|
p.Arg123Gln
|
3.0 |
|
B | ||
| 14457 | chr6 | 131624861 | G | A |
c.284+4C>T
|
-
|
3.0 |
|
B | ||
| 2631 | chr6 | 131624988 | T | A |
c.161A>T
|
p.Glu54Val
|
- | 3.0 |
|
B | |
| 23577 | chr6 | 131627657 | C | A |
c.55G>T
|
p.Glu19Ter
|
- | 3.0 |
|
B | |
| 21438 | chr6 | 131627676 | TA | T |
c.40-5del
|
-
|
2.0 |
|
B | ||
| 3418 | chr6 | 133456597 | G | A |
c.319G>A
|
p.Glu107Lys
|
3.0 |
|
B |