Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10410 | chr5 | 68293776 | TTCAAGAAAAAAG | T |
c.1370_1381del
|
p.Gln457_Ser460del
|
- | 3.5 |
|
B | |
| 13689 | chr5 | 68293779 | A | C |
c.1370A>C
|
p.Gln457Pro
|
- | 3.0 |
|
B | |
| 6869 | chr5 | 68293782 | A | AAAAAAGTCGAGAATATGATAGATTATATGAAGAATATACCCGCAC |
c.1375_1419dup
|
p.Lys459_Thr473dup
|
- | 3.0 |
|
B | |
| 6176 | chr5 | 68293784 | AAAAGTCGAGAAT | A |
c.1377_1388del
|
p.Lys459_Tyr463delinsAsn
|
- | 3.5 |
|
B | |
| 8156 | chr5 | 68293785 | AAAG | A |
c.1377_1379del
|
p.Lys459_Ser460delinsAsn
|
- | 3.0 |
|
B | |
| 28022 | chr5 | 68293790 | C | T |
c.1381C>T
|
p.Arg461Ter
|
5.0 |
|
B | ||
| 9694 | chr5 | 68293790 | CGA | C |
c.1384_1385del
|
p.Glu462IlefsTer2
|
- | 4.0 |
|
B | |
| 6773 | chr5 | 68293794 | AATATGATAG | A |
c.1388_1396del
|
p.Tyr463_Arg465del
|
- | 3.0 |
|
B | |
| 23283 | chr5 | 68293799 | G | C |
c.1390G>C
|
p.Asp464His
|
- | 3.0 |
|
B | |
| 9386 | chr5 | 68293799 | GATAGAT | G |
c.1391_1396del
|
p.Asp464_Leu466delinsVal
|
- | 3.0 |
|
B | |
| 8420 | chr5 | 68293800 | A | C |
c.1391A>C
|
p.Asp464Ala
|
- | 3.0 |
|
B | |
| 13607 | chr5 | 68293801 | T | G |
c.1392T>G
|
p.Asp464Glu
|
- | 3.0 |
|
B | |
| 221 | chr5 | 68293835 | G | T |
c.1425+1G>T
|
p.?
|
5.0 |
|
A | ||
| 10611 | chr5 | 68294523 | A | G |
c.1426-13A>G
|
-
|
- | 3.0 |
|
B | |
| 29746 | chr5 | 68294528 | T | A |
c.1426-8T>A
|
-
|
- | 3.0 |
|
B | |
| 222 | chr5 | 68294629 | G | T |
c.1519G>T
|
p.Glu507Ter
|
5.0 |
|
A | ||
| 25779 | chr5 | 68294670 | A | C |
c.1560A>C
|
p.Glu520Asp
|
- | 3.0 |
|
B | |
| 13396 | chr5 | 68295168 | A | C |
c.1589A>C
|
p.Lys530Thr
|
- | 3.0 |
|
B | |
| 21726 | chr5 | 68295179 | C | T |
c.1600C>T
|
p.Arg534Ter
|
4.5 |
|
B | ||
| 9765 | chr5 | 68295265 | TATGAACAGC | T |
c.1689_1697del
|
p.Met563_Ser565del
|
- | 3.0 |
|
B |