Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20512 | chr11 | 17720147 | T | G |
c.365T>G
|
p.Leu122Arg
|
- | 4.5 |
|
B | |
| 29296 | chr11 | 17720350 | G | A |
c.568G>A
|
p.Gly190Ser
|
3.0 |
|
B | ||
| 27261 | chr11 | 17720353 | G | A |
c.571G>A
|
p.Glu191Lys
|
3.0 |
|
B | ||
| 8867 | chr11 | 17720365 | G | A |
c.583G>A
|
p.Gly195Ser
|
- | 3.0 |
|
B | |
| 21039 | chr11 | 17720950 | G | A |
c.679G>A
|
p.Glu227Lys
|
- | 3.0 |
|
B | |
| 17327 | chr11 | 17721000 | C | T |
c.709+20C>T
|
-
|
- | 3.0 |
|
B | |
| 5075 | chr11 | 17721355 | G | T |
c.810G>T
|
p.Leu270=
|
- | 3.0 |
|
B | |
| 3441 | chr11 | 17779632 | G | A |
c.1681G>A
|
p.Gly561Arg
|
3.0 |
|
B | ||
| 11128 | chr11 | 18477626 | T | G |
-
c.717T>G
|
-
p.Tyr239Ter
|
- | 3.0 |
|
B | |
| 4721 | chr11 | 19147607 | C | T |
c.308C>T
|
p.Ser103Leu
|
- | 3.0 |
|
B | |
| 5300 | chr11 | 22624738 | G | A |
c.1073C>T
|
p.Ala358Val
|
- | 3.0 |
|
B | |
| 9055 | chr11 | 22624783 | C | T |
c.1028G>A
|
p.Gly343Asp
|
- | 3.0 |
|
B | |
| 19017 | chr11 | 22624810 | G | A |
c.1001C>T
|
p.Ala334Val
|
3.0 |
|
B | ||
| 22674 | chr11 | 22624841 | T | C |
c.970A>G
|
p.Lys324Glu
|
2.0 |
|
B | ||
| 24230 | chr11 | 22624885 | T | C |
c.926A>G
|
p.Asn309Ser
|
- | 3.0 |
|
B | |
| 30151 | chr11 | 22624973 | C | T |
c.838G>A
|
p.Asp280Asn
|
3.0 |
|
B | ||
| 24452 | chr11 | 22625004 | C | A |
c.807G>T
|
p.Ala269=
|
- | 3.0 |
|
B | |
| 16229 | chr11 | 22625024 | C | A |
c.787G>T
|
p.Val263Leu
|
- | 3.0 |
|
B | |
| 19018 | chr11 | 22625104 | A | G |
c.707T>C
|
p.Val236Ala
|
- | 3.0 |
|
B | |
| 2635 | chr11 | 22625158 | G | A |
c.653C>T
|
p.Pro218Leu
|
- | 3.0 |
|
B |