Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 266 | chr5 | 112839519 | G | T |
c.3925G>T
|
p.Glu1309Ter
|
4.67 |
|
A | ||
| 14379 | chr5 | 112839519 | GA | G |
c.3929del
|
p.Lys1310ArgfsTer11
|
- | 4.0 |
|
B | |
| 34965 | chr5 | 112839523 | AG | A |
c.3930del
|
p.Ile1311LeufsTer10
|
- | 4.5 |
|
B | |
| 8467 | chr5 | 112839529 | G | A |
c.3935G>A
|
p.Gly1312Glu
|
- | 3.0 |
|
B | |
| 7840 | chr5 | 112839538 | CA | C |
c.3945del
|
p.Ala1316LeufsTer5
|
- | 4.0 |
|
B | |
| 33905 | chr5 | 112839543 | GA | G |
c.3951del
|
p.Asp1318IlefsTer3
|
- | 4.0 |
|
B | |
| 25496 | chr5 | 112839547 | AT | A |
c.3954del
|
p.Pro1319LeufsTer2
|
- | 4.0 |
|
B | |
| 267 | chr5 | 112839548 | TC | T |
c.3956del
|
p.Pro1319LeufsTer2
|
4.67 |
|
A | ||
| 25666 | chr5 | 112839550 | CTG | C |
c.3959_3960del
|
p.Val1320GlufsTer11
|
- | 4.0 |
|
B | |
| 2535 | chr5 | 112839558 | G | T |
c.3964G>T
|
p.Glu1322Ter
|
- | 4.5 |
|
B | |
| 8076 | chr5 | 112839572 | GT | G |
c.3979del
|
p.Ser1327HisfsTer88
|
- | 4.0 |
|
B | |
| 268 | chr5 | 112839574 | C | A |
c.3980C>A
|
p.Ser1327Ter
|
- | 4.67 |
|
A | |
| 24056 | chr5 | 112839574 | C | CA |
c.3981dup
|
p.Gln1328ThrfsTer4
|
- | 4.5 |
|
B | |
| 12019 | chr5 | 112839574 | C | G |
c.3980C>G
|
p.Ser1327Ter
|
4.0 |
|
B | ||
| 269 | chr5 | 112839576 | C | T |
c.3982C>T
|
p.Gln1328Ter
|
4.67 |
|
A | ||
| 31764 | chr5 | 112839585 | A | T |
c.3991A>T
|
p.Arg1331Ter
|
4.5 |
|
B | ||
| 26316 | chr5 | 112839606 | C | T |
c.4012C>T
|
p.Gln1338Ter
|
4.5 |
|
B | ||
| 6258 | chr5 | 112839625 | C | A |
c.4031C>A
|
p.Ser1344Ter
|
- | 4.5 |
|
B | |
| 21187 | chr5 | 112839627 | G | T |
c.4033G>T
|
p.Glu1345Ter
|
4.5 |
|
B | ||
| 270 | chr5 | 112839651 | G | T |
c.4057G>T
|
p.Glu1353Ter
|
4.67 |
|
A |