Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8624 | chr1 | 50970431 | T | TA |
c.64dup
|
p.Thr22AsnfsTer2
|
- | 4.0 |
|
B | |
| 8125 | chr1 | 50970502 | G | C |
c.129+5G>C
|
-
|
- | 3.5 |
|
B | |
| 11331 | chr1 | 50970513 | G | C |
c.129+16G>C
|
-
|
- | 3.5 |
|
B | |
| 34546 | chr1 | 50973892 | G | A |
c.130-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 2717 | chr1 | 50973903 | T | A |
c.140T>A
|
p.Leu47His
|
- | 3.0 |
|
B | |
| 30718 | chr1 | 50973906 | GA | G |
c.146del
|
p.Asn49IlefsTer17
|
- | 4.0 |
|
B | |
| 8804 | chr1 | 50973973 | TTTCGCTGTCATTCA | T |
c.212_225del
|
p.Phe71Ter
|
- | 4.0 |
|
B | |
| 29037 | chr1 | 50974010 | CTGGACACTTTACA | C |
c.248_260del
|
p.Leu83ArgfsTer37
|
- | 4.0 |
|
B | |
| 3096 | chr1 | 50974029 | T | C |
c.266T>C
|
p.Leu89Ser
|
- | 3.0 |
|
B | |
| 13604 | chr1 | 50974049 | G | GTTAA |
c.287_290dup
|
p.Ile98Ter
|
- | 4.0 |
|
B | |
| 13055 | chr1 | 50974071 | G | A |
c.308G>A
|
p.Gly103Glu
|
- | 3.0 |
|
B | |
| 33116 | chr1 | 50974170 | AG | A |
c.412del
|
p.Asp138ThrfsTer18
|
- | 4.0 |
|
B | |
| 8861 | chr1 | 50974175 | G | T |
c.412G>T
|
p.Asp138Tyr
|
- | 3.0 |
|
B | |
| 30774 | chr1 | 50974224 | G | T |
c.461G>T
|
p.Ser154Ile
|
- | 3.0 |
|
B | |
| 7095 | chr1 | 50974240 | CG | C |
c.481del
|
p.Ala161LeufsTer26
|
- | 3.5 |
|
B | |
| 19153 | chr1 | 51356774 | G | A |
c.2617C>T
|
p.Arg873Ter
|
4.0 |
|
B | ||
| 22181 | chr1 | 51356831 | C | T |
c.2560G>A
|
p.Asp854Asn
|
- | 3.0 |
|
B | |
| 17635 | chr1 | 51363985 | A | G |
c.2240T>C
|
p.Val747Ala
|
- | 3.0 |
|
B | |
| 33482 | chr1 | 51399143 | G | C |
c.1941C>G
|
p.Phe647Leu
|
- | 3.0 |
|
B | |
| 32325 | chr1 | 51402542 | A | T |
c.1792-17T>A
|
-
|
- | 3.0 |
|
B |