Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26028 | chr22 | 29658210 | T | G |
c.621T>G
|
p.Tyr207Ter
|
- | 4.0 |
|
B | |
| 21966 | chr22 | 29658244 | G | A |
c.655G>A
|
p.Val219Met
|
3.5 |
|
B | ||
| 32610 | chr22 | 29658265 | G | T |
c.675+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 21736 | chr22 | 29658270 | TTGAAA | T |
c.675+7_675+11del
|
-
|
- | 3.0 |
|
B | |
| 21737 | chr22 | 29658276 | C | G |
c.675+12C>G
|
-
|
- | 3.0 |
|
B | |
| 16413 | chr22 | 29661188 | TC | T |
c.676-16del
|
-
|
- | 3.0 |
|
B | |
| 34124 | chr22 | 29661280 | A | AC |
c.756dup
|
p.Lys253GlnfsTer8
|
- | 4.0 |
|
B | |
| 3829 | chr22 | 29661285 | CAA | C |
c.757_758del
|
p.Lys253AspfsTer7
|
- | 4.0 |
|
B | |
| 1425 | chr22 | 29661296 | TC | T |
c.770del
|
p.Pro257ArgfsTer39
|
- | 4.0 |
|
B | |
| 18350 | chr22 | 29661302 | GGAAT | G |
c.777_780del
|
p.Asn259LysfsTer36
|
- | 4.0 |
|
B | |
| 2583 | chr22 | 29661313 | C | T |
c.784C>T
|
p.Arg262Ter
|
4.5 |
|
B | ||
| 26049 | chr22 | 29661334 | A | T |
c.805A>T
|
p.Lys269Ter
|
- | 4.0 |
|
B | |
| 10953 | chr22 | 29661340 | G | T |
c.810+1G>T
|
p.?
|
- | 3.5 |
|
B | |
| 27226 | chr22 | 29661341 | T | C |
c.810+2T>C
|
p.?
|
4.0 |
|
B | ||
| 17018 | chr22 | 29664970 | GTTCTGCTTCATTCTTCCAGTTTACTATTAA | G |
c.811-19_821del
|
p.?
|
- | 4.0 |
|
B | |
| 8979 | chr22 | 29664983 | C | T |
c.811-7C>T
|
-
|
- | 3.0 |
|
B | |
| 35374 | chr22 | 29664991 | T | G |
c.812T>G
|
p.Phe271Cys
|
3.0 |
|
B | ||
| 13559 | chr22 | 29665042 | C | G |
c.863C>G
|
p.Ser288Ter
|
4.5 |
|
B | ||
| 18358 | chr22 | 29665065 | G | C |
c.885+1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 27235 | chr22 | 29668381 | A | T |
c.934A>T
|
p.Lys312Ter
|
- | 4.0 |
|
B |