Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33898 | chr20 | 42677848 | G | GA |
c.1153+17dup
|
-
|
1.0 |
|
B | ||
| 20258 | chr20 | 42677848 | GA | G |
c.1153+17del
|
-
|
3.0 |
|
B | ||
| 20259 | chr20 | 42677848 | GAA | G |
c.1153+16_1153+17del
|
-
|
- | 3.0 |
|
B | |
| 13708 | chr20 | 42677910 | G | A |
c.1109C>T
|
p.Thr370Met
|
3.0 |
|
B | ||
| 1578 | chr20 | 42677922 | C | A |
c.1097G>T
|
p.Gly366Val
|
- | 3.0 |
|
B | |
| 18256 | chr20 | 42677944 | G | A |
c.1075C>T
|
p.Arg359Ter
|
- | 4.0 |
|
B | |
| 661 | chr20 | 42678036 | C | T |
c.983G>A
|
p.Arg328His
|
3.0 |
|
B | ||
| 23788 | chr20 | 42678049 | C | T |
c.970G>A
|
p.Glu324Lys
|
3.0 |
|
B | ||
| 35293 | chr20 | 42678082 | A | C |
c.937T>G
|
p.Ser313Ala
|
- | 3.0 |
|
B | |
| 6097 | chr20 | 42678154 | G | C |
c.865C>G
|
p.Pro289Ala
|
- | 3.0 |
|
B | |
| 21201 | chr20 | 42756513 | G | A |
c.808C>T
|
p.Arg270Cys
|
3.0 |
|
B | ||
| 494 | chr20 | 42756520 | A | T |
c.801T>A
|
p.Cys267Ter
|
- | 4.0 |
|
B | |
| 3167 | chr20 | 42756617 | G | A |
c.704C>T
|
p.Thr235Met
|
3.0 |
|
B | ||
| 2804 | chr20 | 42756631 | C | T |
c.690G>A
|
p.Trp230Ter
|
- | 4.0 |
|
B | |
| 5094 | chr20 | 42756632 | C | T |
c.689G>A
|
p.Trp230Ter
|
- | 4.0 |
|
B | |
| 18190 | chr20 | 42756649 | G | A |
c.685-13C>T
|
-
|
3.0 |
|
B | ||
| 21641 | chr20 | 42756655 | G | C |
c.685-19C>G
|
-
|
- | 3.0 |
|
B | |
| 21165 | chr20 | 42771422 | C | T |
c.684+13G>A
|
-
|
- | 3.0 |
|
B | |
| 8099 | chr20 | 42771446 | G | A |
c.673C>T
|
p.Leu225Phe
|
- | 3.0 |
|
B | |
| 4184 | chr20 | 42780272 | C | A |
c.514G>T
|
p.Gly172Cys
|
- | 3.0 |
|
B |