Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29875 | chr1 | 55056194 | G | T |
c.996+5G>T
|
-
|
- | 3.0 |
|
B | |
| 23323 | chr1 | 55057395 | A | G |
c.1061A>G
|
p.Asn354Ser
|
- | 3.0 |
|
B | |
| 29187 | chr1 | 55058536 | CT | C |
c.1393del
|
p.Ser465ArgfsTer20
|
- | 3.0 |
|
B | |
| 32614 | chr1 | 55058630 | C | T |
c.1486C>T
|
p.Arg496Trp
|
3.0 |
|
B | ||
| 19289 | chr1 | 55059661 | C | T |
c.1679C>T
|
p.Thr560Ile
|
3.0 |
|
B | ||
| 26843 | chr1 | 55061364 | C | G |
-
c.1682-11C>G
|
-
-
|
- | 3.0 |
|
B | |
| 30565 | chr1 | 55061468 | G | A |
-
c.1775G>A
|
-
p.Arg592Lys
|
- | 3.0 |
|
B | |
| 18481 | chr1 | 55063420 | C | T |
-
c.1915C>T
|
-
p.Pro639Ser
|
- | 3.0 |
|
B | |
| 18270 | chr1 | 55063421 | C | T |
-
c.1916C>T
|
-
p.Pro639Leu
|
3.0 |
|
B | ||
| 31193 | chr1 | 55063516 | G | A |
-
c.2011G>A
|
-
p.Ala671Thr
|
- | 3.0 |
|
B | |
| 4037 | chr1 | 56767888 | G | A |
c.1004C>T
|
p.Ser335Leu
|
3.0 |
|
B | ||
| 3516 | chr1 | 56792100 | G | A |
c.713C>T
|
p.Pro238Leu
|
- | 3.0 |
|
B | |
| 14171 | chr1 | 58576414 | C | T |
c.743G>A
|
p.Gly248Glu
|
3.0 |
|
B | ||
| 15312 | chr1 | 58576537 | T | C |
c.620A>G
|
p.Gln207Arg
|
3.0 |
|
B | ||
| 21581 | chr1 | 58576558 | G | A |
c.599C>T
|
p.Thr200Ile
|
- | 3.0 |
|
B | |
| 14313 | chr1 | 58576651 | T | C |
c.506A>G
|
p.His169Arg
|
3.0 |
|
B | ||
| 32318 | chr1 | 58576831 | T | A |
c.326A>T
|
p.Asp109Val
|
- | 3.0 |
|
B | |
| 9957 | chr1 | 58782139 | TTC | T |
c.930_931del
|
p.Lys311SerfsTer6
|
- | 3.0 |
|
B | |
| 11285 | chr1 | 58782304 | T | TCC |
c.765_766dup
|
p.Glu256GlyfsTer6
|
- | 3.0 |
|
B | |
| 29105 | chr1 | 58782451 | GGCT | G |
c.617_619del
|
p.Gln206del
|
3.0 |
|
B |