Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33299 | chr5 | 112839651 | GAA | G |
c.4058_4059del
|
p.Glu1353ValfsTer21
|
- | 4.0 |
|
B | |
| 32413 | chr5 | 112839653 | A | AT |
c.4063dup
|
p.Ser1355PhefsTer20
|
- | 4.5 |
|
B | |
| 31051 | chr5 | 112839653 | AT | A |
c.4063del
|
p.Ser1355LeufsTer60
|
- | 4.5 |
|
B | |
| 31054 | chr5 | 112839658 | C | G |
c.4064C>G
|
p.Ser1355Cys
|
- | 3.0 |
|
B | |
| 3158 | chr5 | 112839661 | C | A |
c.4067C>A
|
p.Ser1356Ter
|
- | 4.0 |
|
B | |
| 271 | chr5 | 112839661 | C | G |
c.4067C>G
|
p.Ser1356Ter
|
4.67 |
|
A | ||
| 32336 | chr5 | 112839663 | G | A |
c.4069G>A
|
p.Gly1357Arg
|
3.0 |
|
B | ||
| 783 | chr5 | 112839674 | T | TC |
c.4083dup
|
p.Ser1362LeufsTer13
|
- | 4.5 |
|
B | |
| 272 | chr5 | 112839693 | C | T |
c.4099C>T
|
p.Gln1367Ter
|
4.67 |
|
A | ||
| 11554 | chr5 | 112839714 | G | T |
c.4120G>T
|
p.Glu1374Ter
|
- | 4.0 |
|
B | |
| 27016 | chr5 | 112839719 | CTA | C |
c.4127_4128del
|
p.Tyr1376CysfsTer9
|
4.5 |
|
B | ||
| 6414 | chr5 | 112839720 | T | TA |
c.4127dup
|
p.Tyr1376Ter
|
- | 4.0 |
|
B | |
| 273 | chr5 | 112839726 | C | T |
c.4132C>T
|
p.Gln1378Ter
|
5.0 |
|
B | ||
| 7885 | chr5 | 112839727 | A | AGGAG |
c.4134_4137dup
|
p.Thr1380GlyfsTer7
|
- | 4.0 |
|
B | |
| 274 | chr5 | 112839729 | G | T |
c.4135G>T
|
p.Glu1379Ter
|
4.67 |
|
A | ||
| 275 | chr5 | 112839732 | A | AC |
c.4142dup
|
p.Leu1382ThrfsTer4
|
- | 4.67 |
|
A | |
| 27667 | chr5 | 112839754 | GT | G |
c.4161del
|
p.Cys1387Ter
|
- | 4.5 |
|
B | |
| 11672 | chr5 | 112839756 | A | C |
c.4162A>C
|
p.Thr1388Pro
|
- | 3.0 |
|
B | |
| 34100 | chr5 | 112839758 | TTCTGTCAGTTCACTTGA | T |
c.4166_4182del
|
p.Ser1389Ter
|
- | 4.0 |
|
B | |
| 11673 | chr5 | 112839759 | TC | T |
c.4166del
|
p.Ser1389LeufsTer26
|
4.0 |
|
B |