Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15369 | chr3 | 128486026 | G | A |
c.572C>T
|
p.Ala191Val
|
3.0 |
|
B | ||
| 18355 | chr3 | 128486056 | A | T |
c.542T>A
|
p.Val181Glu
|
- | 3.0 |
|
B | |
| 17865 | chr3 | 128486059 | T | A |
c.539A>T
|
p.Glu180Val
|
- | 3.0 |
|
B | |
| 17856 | chr3 | 128486060 | C | A |
c.538G>T
|
p.Glu180Ter
|
- | 3.5 |
|
B | |
| 28951 | chr3 | 128486102 | A | T |
c.496T>A
|
p.Ser166Thr
|
- | 3.0 |
|
B | |
| 29384 | chr3 | 128486248 | G | A |
c.350C>T
|
p.Thr117Ile
|
- | 3.0 |
|
B | |
| 20995 | chr3 | 128486307 | C | T |
c.291G>A
|
p.Trp97Ter
|
- | 3.5 |
|
B | |
| 24120 | chr3 | 128486432 | G | A |
c.230-64C>T
|
-
|
- | 3.0 |
|
B | |
| 12126 | chr3 | 128486937 | T | C |
c.95A>G
|
p.Asn32Ser
|
3.0 |
|
B | ||
| 30591 | chr3 | 128486961 | G | A |
c.71C>T
|
p.Ser24Leu
|
3.0 |
|
B | ||
| 18662 | chr3 | 128487017 | G | C |
c.15C>G
|
p.Pro5=
|
1.0 |
|
B | ||
| 28457 | chr3 | 128630038 | G | A |
c.949C>T
|
p.Arg317Trp
|
- | 3.0 |
|
B | |
| 33389 | chr3 | 128637883 | C | A |
c.549G>T
|
p.Glu183Asp
|
- | 3.0 |
|
B | |
| 25664 | chr3 | 128650712 | G | A |
c.89C>T
|
p.Pro30Leu
|
3.0 |
|
B | ||
| 14063 | chr3 | 128650732 | G | C |
c.69C>G
|
p.Ser23Arg
|
3.0 |
|
B | ||
| 18258 | chr3 | 129432535 | A | T |
c.1615T>A
-
|
p.Tyr539Asn
-
|
- | 3.0 |
|
B | |
| 12427 | chr3 | 129436608 | C | T |
-
c.1036G>A
|
-
p.Glu346Lys
|
1.0 |
|
B | ||
| 11291 | chr3 | 129436704 | C | CT |
-
c.939dup
|
-
p.Glu314ArgfsTer13
|
3.5 |
|
B | ||
| 19912 | chr3 | 129436704 | CT | C |
-
c.939del
|
-
p.Glu314LysfsTer4
|
4.0 |
|
B | ||
| 22721 | chr3 | 129436763 | C | G |
-
c.881G>C
|
-
p.Gly294Ala
|
- | 3.0 |
|
B |