Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5237 | chr22 | 19981403 | G | C |
c.704C>G
|
p.Ala235Gly
|
3.0 |
|
B | ||
| 18037 | chr22 | 20086174 | G | A |
c.211G>A
|
p.Gly71Arg
|
3.0 |
|
B | ||
| 25407 | chr22 | 20086409 | G | C |
c.446G>C
|
p.Gly149Ala
|
- | 3.0 |
|
B | |
| 23619 | chr22 | 20087221 | G | C |
c.780G>C
|
p.Lys260Asn
|
- | 3.0 |
|
B | |
| 23252 | chr22 | 20091446 | T | A |
c.1318T>A
|
p.Phe440Ile
|
- | 3.0 |
|
B | |
| 25727 | chr22 | 20091639 | G | T |
c.1504+7G>T
|
-
|
- | 3.0 |
|
B | |
| 20435 | chr22 | 20092912 | C | T |
c.1705+5C>T
|
-
|
3.0 |
|
B | ||
| 15968 | chr22 | 20106278 | G | T |
c.1889+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 30028 | chr22 | 20106714 | C | G |
c.1996+16C>G
|
-
|
- | 3.0 |
|
B | |
| 28259 | chr22 | 20107361 | G | A |
c.2087G>A
-
|
p.Arg696His
-
|
- | 3.0 |
|
B | |
| 19819 | chr22 | 20110022 | CAGG | C |
c.2242_2244del
-
|
p.Glu748del
-
|
- | 3.0 |
|
B | |
| 35521 | chr22 | 20115426 | C | CA |
-
c.729dup
-
|
-
p.Glu244Ter
-
|
- | 3.0 |
|
B | |
| 5609 | chr22 | 20917993 | C | G |
c.59C>G
|
p.Ser20Cys
|
- | 3.0 |
|
B | |
| 9098 | chr22 | 20918021 | G | A |
c.87G>A
|
p.Gln29=
|
- | 3.0 |
|
B | |
| 13753 | chr22 | 20918027 | G | A |
c.93G>A
|
p.Gln31=
|
3.0 |
|
B | ||
| 22796 | chr22 | 20949840 | G | A |
c.907G>A
|
p.Glu303Lys
|
3.0 |
|
B | ||
| 34931 | chr22 | 20982356 | C | G |
c.-16C>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 16949 | chr22 | 20982391 | C | CG |
c.27dup
-
|
p.Gln10AlafsTer24
-
|
4.5 |
|
B | ||
| 12583 | chr22 | 20982399 | C | T |
c.28C>T
-
|
p.Gln10Ter
-
|
4.0 |
|
B | ||
| 27841 | chr22 | 20983023 | C | G |
c.201-4C>G
-
|
-
-
|
- | 3.0 |
|
B |