Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11674 | chr5 | 112839762 | G | T |
c.4168G>T
|
p.Val1390Phe
|
- | 3.0 |
|
B | |
| 276 | chr5 | 112839769 | C | A |
c.4175C>A
|
p.Ser1392Ter
|
4.67 |
|
A | ||
| 2776 | chr5 | 112839778 | G | GT |
c.4188dup
|
p.Glu1397Ter
|
- | 4.5 |
|
B | |
| 24275 | chr5 | 112839782 | TGA | T |
c.4192_4193del
|
p.Arg1399PhefsTer9
|
- | 4.5 |
|
B | |
| 277 | chr5 | 112839783 | G | T |
c.4189G>T
|
p.Glu1397Ter
|
- | 4.67 |
|
A | |
| 17084 | chr5 | 112839792 | TC | T |
c.4199del
|
p.Ser1400Ter
|
- | 4.5 |
|
B | |
| 2845 | chr5 | 112839793 | C | A |
c.4199C>A
|
p.Ser1400Ter
|
- | 4.0 |
|
B | |
| 278 | chr5 | 112839810 | C | T |
c.4216C>T
|
p.Gln1406Ter
|
4.67 |
|
A | ||
| 279 | chr5 | 112839816 | G | T |
c.4222G>T
|
p.Glu1408Ter
|
- | 4.67 |
|
A | |
| 11522 | chr5 | 112839826 | GT | G |
c.4233del
|
p.Ser1411ArgfsTer4
|
- | 4.0 |
|
B | |
| 17544 | chr5 | 112839828 | G | T |
c.4234G>T
|
p.Gly1412Ter
|
- | 4.5 |
|
B | |
| 32946 | chr5 | 112839832 | TG | T |
c.4240del
|
p.Val1414Ter
|
4.5 |
|
B | ||
| 32639 | chr5 | 112839834 | G | A |
c.4240G>A
|
p.Val1414Ile
|
3.0 |
|
B | ||
| 33671 | chr5 | 112839836 | A | AAG |
c.4243_4244dup
|
p.Ser1415ArgfsTer5
|
- | 4.0 |
|
B | |
| 2429 | chr5 | 112839838 | GT | G |
c.4245del
|
p.Ser1415ArgfsTer4
|
- | 4.0 |
|
B | |
| 28233 | chr5 | 112839863 | TC | T |
c.4271del
|
p.Pro1424GlnfsTer49
|
- | 4.0 |
|
B | |
| 6756 | chr5 | 112839864 | C | T |
c.4270C>T
|
p.Pro1424Ser
|
3.0 |
|
B | ||
| 11987 | chr5 | 112839865 | CA | C |
c.4272del
|
p.Asp1425IlefsTer48
|
- | 4.0 |
|
B | |
| 6803 | chr5 | 112839869 | TA | T |
c.4276del
|
p.Ser1426AlafsTer47
|
- | 4.0 |
|
B | |
| 280 | chr5 | 112839879 | C | T |
c.4285C>T
|
p.Gln1429Ter
|
4.67 |
|
A |