Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28879 | chr20 | 41100103 | TA | T |
c.1024del
|
p.Ile342LeufsTer14
|
- | 3.0 |
|
B | |
| 5566 | chr20 | 41100174 | G | A |
c.1094G>A
|
p.Gly365Asp
|
- | 3.0 |
|
B | |
| 4015 | chr20 | 41101248 | G | A |
c.1203G>A
|
p.Trp401Ter
|
- | 3.0 |
|
B | |
| 4146 | chr20 | 41101297 | G | A |
c.1252G>A
|
p.Glu418Lys
|
3.0 |
|
B | ||
| 8107 | chr20 | 41112858 | G | A |
c.1385G>A
|
p.Arg462Gln
|
- | 3.0 |
|
B | |
| 26294 | chr20 | 41112860 | G | A |
c.1387G>A
|
p.Glu463Lys
|
- | 3.0 |
|
B | |
| 27606 | chr20 | 41112868 | G | C |
c.1395G>C
|
p.Trp465Cys
|
- | 3.0 |
|
B | |
| 4917 | chr20 | 41115374 | T | C |
c.1642T>C
|
p.Phe548Leu
|
- | 3.0 |
|
B | |
| 6332 | chr20 | 41115417 | ATGATCTTTT | A |
c.1690_1698del
|
p.Leu564_Asp566del
|
- | 3.0 |
|
B | |
| 34736 | chr20 | 41121678 | C | G |
c.1951-18C>G
|
-
|
- | 3.0 |
|
B | |
| 31138 | chr20 | 41121692 | C | T |
c.1951-4C>T
|
-
|
- | 3.0 |
|
B | |
| 11051 | chr20 | 41137632 | CG | C |
c.-9del
|
-
|
- | 3.0 |
|
B | |
| 8665 | chr20 | 41137684 | G | T |
c.43G>T
|
p.Gly15Cys
|
- | 3.0 |
|
B | |
| 5375 | chr20 | 41137798 | G | A |
c.157G>A
|
p.Val53Ile
|
- | 3.0 |
|
B | |
| 25103 | chr20 | 41137849 | G | T |
c.208G>T
|
p.Glu70Ter
|
- | 3.0 |
|
B | |
| 6426 | chr20 | 41137866 | C | T |
c.217+8C>T
|
-
|
3.0 |
|
B | ||
| 18694 | chr20 | 41159687 | G | C |
c.299G>C
|
p.Arg100Pro
|
3.0 |
|
B | ||
| 24855 | chr20 | 41159705 | G | T |
c.317G>T
|
p.Cys106Phe
|
- | 3.0 |
|
B | |
| 953 | chr20 | 41159945 | C | T |
c.446C>T
|
p.Thr149Ile
|
- | 3.0 |
|
B | |
| 9688 | chr20 | 41160122 | T | G |
c.481T>G
|
p.Phe161Val
|
- | 3.0 |
|
B |