Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12416 | chr22 | 22548659 | G | T |
c.954-16C>A
|
-
|
1.0 |
|
B | ||
| 26779 | chr22 | 22549846 | G | A |
c.833C>T
|
p.Pro278Leu
|
3.0 |
|
B | ||
| 30669 | chr22 | 22550203 | C | T |
c.476G>A
|
p.Arg159Gln
|
3.0 |
|
B | ||
| 32927 | chr22 | 22550323 | A | C |
c.356T>G
|
p.Leu119Arg
|
- | 3.0 |
|
B | |
| 13041 | chr22 | 22550326 | T | A |
c.353A>T
|
p.Lys118Ile
|
- | 3.0 |
|
B | |
| 20827 | chr22 | 22551107 | G | A |
c.22-18C>T
|
-
|
- | 3.0 |
|
B | |
| 15425 | chr22 | 22556799 | G | A |
c.21+13C>T
|
-
|
- | 3.0 |
|
B | |
| 25898 | chr22 | 22556829 | C | T |
c.4G>A
|
p.Glu2Lys
|
- | 3.0 |
|
B | |
| 24675 | chr22 | 23181096 | G | A |
c.136G>A
|
p.Glu46Lys
|
- | 3.0 |
|
B | |
| 6959 | chr22 | 23181291 | G | T |
c.331G>T
|
p.Glu111Ter
|
- | 3.0 |
|
B | |
| 9842 | chr22 | 23181399 | C | T |
c.439C>T
|
p.Pro147Ser
|
3.0 |
|
B | ||
| 4918 | chr22 | 23181511 | ACGAGCGC | A |
c.552_558del
|
p.His184GlnfsTer4
|
- | 3.0 |
|
B | |
| 4919 | chr22 | 23181522 | C | CGCGCTCG |
c.562_563insGCGCTCG
|
p.Leu188ArgfsTer82
|
- | 3.0 |
|
B | |
| 21247 | chr22 | 23181653 | C | T |
c.693C>T
|
p.Tyr231=
|
2.0 |
|
B | ||
| 23972 | chr22 | 23181679 | GCGGCGTCGA | G |
c.725_733del
|
p.Val242_Gly244del
|
- | 3.0 |
|
B | |
| 23971 | chr22 | 23181701 | GGACGCCGAGTT | G |
c.744_754del
|
p.Asp248GlufsTer16
|
- | 3.0 |
|
B | |
| 35238 | chr22 | 23181725 | CCTGA | C |
c.766_769del
|
p.Leu256ArgfsTer4
|
- | 3.0 |
|
B | |
| 20776 | chr22 | 23181821 | G | C |
c.861G>C
|
p.Met287Ile
|
- | 3.0 |
|
B | |
| 4806 | chr22 | 23181881 | G | A |
c.921G>A
|
p.Lys307=
|
- | 3.0 |
|
B | |
| 23970 | chr22 | 23181909 | TC | T |
c.955del
|
p.Arg319GlyfsTer180
|
- | 3.0 |
|
B |