Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35474 | chr10 | 87961051 | T | C |
c.959T>C
|
p.Leu320Ser
|
4.0 |
|
B | ||
| 409 | chr10 | 87961051 | T | G |
c.959T>G
|
p.Leu320Ter
|
4.67 |
|
A | ||
| 19905 | chr10 | 87961054 | C | CA |
c.968dup
|
p.Asn323LysfsTer2
|
4.5 |
|
B | ||
| 410 | chr10 | 87961054 | CA | C |
c.968del
|
p.Asn323MetfsTer21
|
4.67 |
|
A | ||
| 2123 | chr10 | 87961056 | A | G |
c.964A>G
|
p.Lys322Glu
|
- | 3.0 |
|
B | |
| 23361 | chr10 | 87961057 | A | G |
c.965A>G
|
p.Lys322Arg
|
- | 3.0 |
|
B | |
| 528 | chr10 | 87961066 | T | C |
c.974T>C
|
p.Leu325Pro
|
3.0 |
|
B | ||
| 13035 | chr10 | 87961066 | T | G |
c.974T>G
|
p.Leu325Arg
|
3.0 |
|
B | ||
| 25406 | chr10 | 87961068 | G | A |
c.976G>A
|
p.Asp326Asn
|
- | 3.5 |
|
B | |
| 411 | chr10 | 87961075 | CAAAT | C |
c.987_990del
|
p.Asn329LysfsTer14
|
5.0 |
|
A | ||
| 34316 | chr10 | 87961089 | G | GC |
c.999dup
|
p.Asn334GlnfsTer9
|
- | 4.5 |
|
B | |
| 13036 | chr10 | 87961095 | C | G |
c.1003C>G
|
p.Arg335Gly
|
- | 3.0 |
|
B | |
| 412 | chr10 | 87961095 | C | T |
c.1003C>T
|
p.Arg335Ter
|
4.67 |
|
A | ||
| 33627 | chr10 | 87961108 | C | CA |
c.1019dup
|
p.Asn340LysfsTer3
|
- | 4.0 |
|
B | |
| 413 | chr10 | 87961118 | G | T |
c.1026G>T
|
p.Lys342Asn
|
- | 4.25 |
|
S | |
| 414 | chr10 | 87961119 | G | T |
c.1026+1G>T
|
p.?
|
4.67 |
|
A | ||
| 33117 | chr10 | 87961120 | T | A |
c.1026+2T>A
|
p.?
|
- | 4.5 |
|
B | |
| 11965 | chr10 | 87965302 | A | C |
c.1042A>C
|
p.Thr348Pro
|
- | 3.0 |
|
B | |
| 53 | chr10 | 87965321 | C | T |
c.1061C>T
|
p.Pro354Leu
|
3.0 |
|
B | ||
| 27410 | chr10 | 87965354 | TA | T |
c.1096del
|
p.Thr366HisfsTer50
|
- | 4.0 |
|
B |