Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13540 | chr6 | 146029609 | G | A |
c.92G>A
|
p.Gly31Glu
|
3.0 |
|
B | ||
| 24391 | chr6 | 146029633 | C | A |
c.116C>A
|
p.Ala39Asp
|
- | 3.0 |
|
B | |
| 23474 | chr6 | 146029826 | T | G |
c.309T>G
|
p.Ser103Arg
|
3.0 |
|
B | ||
| 23633 | chr6 | 146029836 | G | T |
c.319G>T
|
p.Asp107Tyr
|
- | 3.0 |
|
B | |
| 17869 | chr6 | 146029976 | G | C |
c.459G>C
|
p.Lys153Asn
|
- | 3.0 |
|
B | |
| 31767 | chr6 | 146159426 | A | T |
c.779A>T
|
p.Lys260Ile
|
- | 3.0 |
|
B | |
| 22157 | chr6 | 146159430 | CT | C |
c.784del
|
p.Tyr262ThrfsTer33
|
- | 3.0 |
|
B | |
| 16738 | chr6 | 146159431 | T | A |
c.784T>A
|
p.Tyr262Asn
|
- | 3.0 |
|
B | |
| 33019 | chr6 | 146159572 | G | A |
c.925G>A
|
p.Val309Met
|
3.0 |
|
B | ||
| 23475 | chr6 | 146352285 | A | C |
c.1222A>C
|
p.Ser408Arg
|
- | 3.0 |
|
B | |
| 23673 | chr6 | 146352286 | G | A |
c.1223G>A
|
p.Ser408Asn
|
- | 3.0 |
|
B | |
| 33255 | chr6 | 146352387 | A | G |
c.1324A>G
|
p.Met442Val
|
- | 3.0 |
|
B | |
| 15184 | chr6 | 146352471 | G | C |
c.1408G>C
|
p.Asp470His
|
- | 3.0 |
|
B | |
| 24931 | chr6 | 146352492 | G | T |
c.1429G>T
|
p.Gly477Ter
|
- | 3.0 |
|
B | |
| 25965 | chr6 | 146352514 | C | A |
c.1433+18C>A
|
-
|
- | 3.0 |
|
B | |
| 16593 | chr6 | 146387030 | C | T |
c.1729+14C>T
|
-
|
3.0 |
|
B | ||
| 21384 | chr6 | 146398924 | G | C |
c.1885G>C
|
p.Glu629Gln
|
- | 3.0 |
|
B | |
| 30386 | chr6 | 146399106 | CAAG | C |
c.2075_2077del
|
p.Lys692del
|
3.0 |
|
B | ||
| 32149 | chr6 | 146399227 | C | A |
c.2188C>A
|
p.Pro730Thr
|
- | 3.0 |
|
B | |
| 33752 | chr6 | 146399234 | C | T |
c.2195C>T
|
p.Pro732Leu
|
- | 3.0 |
|
B |