Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12225 | chr8 | 25858379 | A | C |
c.1468T>G
|
p.Leu490Val
|
3.0 |
|
B | ||
| 19317 | chr8 | 26361019 | C | T |
c.505C>T
|
p.Arg169Ter
|
- | 3.5 |
|
B | |
| 19517 | chr8 | 26363762 | T | C |
c.844T>C
|
p.Ser282Pro
|
- | 3.0 |
|
B | |
| 12118 | chr8 | 26363778 | C | T |
c.860C>T
|
p.Ser287Phe
|
- | 3.0 |
|
B | |
| 28387 | chr8 | 26366297 | T | C |
c.973-18T>C
|
-
|
- | 3.0 |
|
B | |
| 14128 | chr8 | 26366385 | G | A |
c.1043G>A
|
p.Cys348Tyr
|
- | 3.0 |
|
B | |
| 24279 | chr8 | 26370379 | A | T |
c.1310A>T
|
p.Asn437Ile
|
- | 3.0 |
|
B | |
| 5260 | chr8 | 27454187 | G | A |
c.2629G>A
|
p.Asp877Asn
|
3.0 |
|
B | ||
| 21653 | chr8 | 30095510 | G | A |
c.-3G>A
|
-
|
3.0 |
|
B | ||
| 30988 | chr8 | 30105773 | C | T |
c.307C>T
|
p.Leu103Phe
|
- | 3.0 |
|
B | |
| 4690 | chr8 | 30859988 | G | A |
c.610C>T
|
p.Pro204Ser
|
- | 3.0 |
|
B | |
| 34224 | chr8 | 31032445 | G | A |
-
c.338C>T
|
-
p.Ala113Val
|
3.0 |
|
B | ||
| 31318 | chr8 | 31059253 | C | T |
c.197C>T
|
p.Ser66Leu
|
3.0 |
|
B | ||
| 7560 | chr8 | 31064288 | G | A |
c.210-1G>A
|
p.?
|
4.5 |
|
B | ||
| 6609 | chr8 | 31064374 | C | G |
c.295C>G
|
p.Leu99Val
|
3.0 |
|
B | ||
| 9793 | chr8 | 31064375 | T | G |
c.296T>G
|
p.Leu99Arg
|
- | 3.0 |
|
B | |
| 18121 | chr8 | 31064423 | C | T |
c.344C>T
|
p.Ser115Phe
|
3.0 |
|
B | ||
| 5006 | chr8 | 31065005 | G | A |
c.446G>A
|
p.Arg149His
|
3.0 |
|
B | ||
| 24956 | chr8 | 31067066 | C | G |
c.538C>G
|
p.Leu180Val
|
- | 3.0 |
|
B | |
| 23120 | chr8 | 31067200 | T | A |
c.654+18T>A
|
-
|
- | 3.0 |
|
B |