Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19980 | chr3 | 138734644 | C | T |
c.962G>A
|
p.Arg321Gln
|
3.5 |
|
B | ||
| 34331 | chr3 | 138734817 | G | A |
c.802-13C>T
|
-
|
- | 3.0 |
|
B | |
| 22692 | chr3 | 138737877 | T | C |
c.631A>G
|
p.Ser211Gly
|
3.0 |
|
B | ||
| 14864 | chr3 | 138737893 | G | A |
c.622-7C>T
|
-
|
3.0 |
|
B | ||
| 34706 | chr3 | 138742664 | A | C |
c.515T>G
|
p.Leu172Arg
|
- | 3.0 |
|
B | |
| 5511 | chr3 | 138759201 | C | A |
c.143G>T
|
p.Arg48Leu
|
- | 3.0 |
|
B | |
| 2844 | chr3 | 138759288 | G | A |
c.56C>T
|
p.Ala19Val
|
3.0 |
|
B | ||
| 3831 | chr3 | 138945941 | A | C |
c.782T>G
-
|
p.Val261Gly
-
|
- | 3.0 |
|
B | |
| 11324 | chr3 | 138946039 | T | G |
c.684A>C
-
|
p.Ala228=
-
|
- | 3.0 |
|
B | |
| 4804 | chr3 | 138946048 | C | A |
c.675G>T
-
|
p.Ala225=
-
|
- | 3.0 |
|
B | |
| 6669 | chr3 | 138946068 | G | A |
c.655C>T
-
|
p.Gln219Ter
-
|
3.5 |
|
B | ||
| 1156 | chr3 | 138946072 | G | A |
c.651C>T
-
|
p.Ser217=
-
|
2.5 |
|
B | ||
| 9551 | chr3 | 138946075 | G | C |
c.648C>G
-
|
p.Ala216=
-
|
- | 3.0 |
|
B | |
| 5512 | chr3 | 138946173 | C | A |
c.550G>T
-
|
p.Asp184Tyr
-
|
- | 3.0 |
|
B | |
| 13022 | chr3 | 138946270 | C | G |
c.453G>C
-
|
p.Arg151Ser
-
|
- | 3.0 |
|
B | |
| 23176 | chr3 | 138946278 | TGCG | T |
c.442_444del
-
|
p.Arg148del
-
|
- | 3.0 |
|
B | |
| 6546 | chr3 | 138946321 | G | C |
c.402C>G
-
|
p.Cys134Trp
-
|
4.5 |
|
B | ||
| 9188 | chr3 | 138946326 | C | T |
c.397G>A
-
|
p.Ala133Thr
-
|
- | 3.0 |
|
B | |
| 23975 | chr3 | 138946339 | C | A |
c.384G>T
-
|
p.Trp128Cys
-
|
- | 3.0 |
|
B | |
| 15897 | chr3 | 138946361 | C | T |
c.362G>A
-
|
p.Gly121Asp
-
|
- | 3.0 |
|
B |