Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6427 | chr2 | 29225481 | G | T |
c.3152C>A
|
p.Ala1051Asp
|
3.0 |
|
B | ||
| 7456 | chr2 | 29225518 | C | T |
c.3115G>A
|
p.Val1039Met
|
2.5 |
|
B | ||
| 9007 | chr2 | 29225566 | C | T |
c.3068-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 20794 | chr2 | 29225580 | C | T |
c.3068-15G>A
|
-
|
- | 3.0 |
|
B | |
| 24227 | chr2 | 29227019 | A | C |
c.2970T>G
|
p.Cys990Trp
|
- | 3.0 |
|
B | |
| 5777 | chr2 | 29227060 | C | A |
c.2929G>T
|
p.Gly977Trp
|
- | 3.0 |
|
B | |
| 26984 | chr2 | 29227570 | C | T |
c.2914+4G>A
|
-
|
3.0 |
|
B | ||
| 27396 | chr2 | 29228884 | C | T |
c.2815G>A
|
p.Gly939Ser
|
3.0 |
|
B | ||
| 23997 | chr2 | 29228946 | CTTGTCTCCCACCCCCACTTCTTCATGGCCTGGGGGCAGGAATGTCCTCCGGTGGCACCCTCCTGCAAAGA | C |
c.2683_2752del
|
p.Ser895GlufsTer21
|
- | 3.0 |
|
B | |
| 21472 | chr2 | 29228955 | C | T |
c.2744G>A
|
p.Trp915Ter
|
- | 3.0 |
|
B | |
| 24542 | chr2 | 29229071 | G | A |
c.2633-5C>T
|
-
|
2.0 |
|
B | ||
| 11748 | chr2 | 29232313 | C | T |
c.2623G>A
|
p.Gly875Arg
|
2.5 |
|
B | ||
| 32451 | chr2 | 29232321 | C | T |
c.2615G>A
|
p.Gly872Asp
|
- | 3.0 |
|
B | |
| 21501 | chr2 | 29232384 | G | A |
c.2552C>T
|
p.Ala851Val
|
3.0 |
|
B | ||
| 26021 | chr2 | 29232457 | G | A |
c.2488-9C>T
|
-
|
- | 2.0 |
|
B | |
| 24116 | chr2 | 29233552 | G | A |
c.2487+13C>T
|
-
|
- | 3.0 |
|
B | |
| 13560 | chr2 | 29233599 | C | G |
c.2453G>C
|
p.Gly818Ala
|
- | 3.0 |
|
B | |
| 11805 | chr2 | 29233605 | C | T |
c.2447G>A
|
p.Gly816Glu
|
3.0 |
|
B | ||
| 23996 | chr2 | 29233635 | C | A |
c.2417G>T
|
p.Arg806Leu
|
3.0 |
|
B | ||
| 2036 | chr2 | 29233679 | C | G |
c.2373G>C
|
p.Gln791His
|
3.0 |
|
B |