Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4817 | chr2 | 44326891 | CATCAGCGTGCCACTGGAG | C |
c.1282_1299del
|
p.Leu428_Asp433del
|
- | 3.0 |
|
B | |
| 22589 | chr2 | 45006206 | G | C |
c.840C>G
|
p.Asn280Lys
|
- | 3.0 |
|
B | |
| 22220 | chr2 | 45006271 | C | A |
c.775G>T
|
p.Val259Leu
|
- | 3.0 |
|
B | |
| 18867 | chr2 | 45006286 | C | T |
c.760G>A
|
p.Ala254Thr
|
3.0 |
|
B | ||
| 27343 | chr2 | 45006298 | G | A |
c.748C>T
|
p.Pro250Ser
|
- | 3.0 |
|
B | |
| 16642 | chr2 | 45006376 | G | T |
c.670C>A
|
p.His224Asn
|
- | 3.0 |
|
B | |
| 33998 | chr2 | 45006434 | G | T |
c.612C>A
|
p.Ser204Arg
|
- | 3.0 |
|
B | |
| 19958 | chr2 | 45008584 | C | T |
c.527G>A
|
p.Arg176Gln
|
- | 3.0 |
|
B | |
| 12587 | chr2 | 46346914 | C | T |
c.68C>T
|
p.Ala23Val
|
3.0 |
|
B | ||
| 21024 | chr2 | 46360737 | TC | T |
c.555del
|
p.Lys186SerfsTer14
|
- | 3.0 |
|
B | |
| 32983 | chr2 | 46375771 | G | A |
c.968G>A
|
p.Gly323Glu
|
- | 3.0 |
|
B | |
| 22255 | chr2 | 46376564 | T | C |
c.1060T>C
|
p.Phe354Leu
|
3.0 |
|
B | ||
| 23030 | chr2 | 46377900 | A | G |
c.1256A>G
|
p.Gln419Arg
|
3.0 |
|
B | ||
| 24861 | chr2 | 46378087 | G | A |
c.1443G>A
|
p.Thr481=
|
- | 3.0 |
|
B | |
| 29863 | chr2 | 46378645 | C | T |
c.1444-12C>T
|
-
|
3.0 |
|
B | ||
| 12618 | chr2 | 46380347 | AC | A |
c.1681del
|
p.Gln561SerfsTer7
|
- | 3.0 |
|
B | |
| 4048 | chr2 | 47005970 | C | T |
c.1114C>T
|
p.Arg372Trp
|
3.0 |
|
B | ||
| 32359 | chr2 | 47369095 | GGCGGGGCGGA | G |
-
|
-
|
3.5 |
|
B | ||
| 32092 | chr2 | 47369188 | C | A |
-
|
-
|
3.0 |
|
B | ||
| 16202 | chr2 | 47369536 | C | T |
c.31C>T
|
p.Leu11Phe
|
3.0 |
|
B |