Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27091 | chr1 | 148966883 | A | C |
c.1710A>C
|
p.Lys570Asn
|
- | 3.0 |
|
B | |
| 17192 | chr1 | 148966956 | T | C |
c.1783T>C
|
p.Ser595Pro
|
3.0 |
|
B | ||
| 25456 | chr1 | 148967710 | C | T |
c.1804-16C>T
|
-
|
3.0 |
|
B | ||
| 26547 | chr1 | 148969030 | A | C |
c.2178A>C
|
p.Gln726His
|
- | 3.0 |
|
B | |
| 33095 | chr1 | 148972342 | C | G |
c.2341C>G
|
p.Gln781Glu
|
3.0 |
|
B | ||
| 19291 | chr1 | 148978048 | A | C |
c.2629A>C
|
p.Ile877Leu
|
- | 3.0 |
|
B | |
| 20505 | chr1 | 148978060 | C | A |
c.2634+7C>A
|
-
|
- | 3.0 |
|
B | |
| 32172 | chr1 | 148979718 | C | T |
c.2773-19C>T
|
-
|
3.0 |
|
B | ||
| 27203 | chr1 | 148979756 | G | A |
c.2792G>A
|
p.Gly931Glu
|
- | 3.0 |
|
B | |
| 31639 | chr1 | 148979859 | A | T |
c.2885+10A>T
|
-
|
3.0 |
|
B | ||
| 23024 | chr1 | 148981361 | C | T |
c.2977C>T
|
p.Arg993Cys
|
3.0 |
|
B | ||
| 26863 | chr1 | 148991897 | G | A |
c.3026G>A
|
p.Gly1009Glu
|
- | 3.0 |
|
B | |
| 14501 | chr1 | 148991941 | G | A |
c.3070G>A
|
p.Glu1024Lys
|
3.0 |
|
B | ||
| 22243 | chr1 | 148998206 | C | T |
c.3166C>T
|
p.Pro1056Ser
|
- | 3.0 |
|
B | |
| 31535 | chr1 | 149001642 | G | T |
c.3387G>T
|
p.Met1129Ile
|
- | 3.0 |
|
B | |
| 22073 | chr1 | 149002037 | G | T |
c.3771+11G>T
|
-
|
3.0 |
|
B | ||
| 34323 | chr1 | 149003715 | G | A |
c.4069G>A
|
p.Glu1357Lys
|
- | 3.0 |
|
B | |
| 23386 | chr1 | 149005097 | A | G |
c.4273A>G
|
p.Lys1425Glu
|
1.0 |
|
B | ||
| 31194 | chr1 | 149009550 | C | T |
c.4902-18C>T
|
-
|
3.0 |
|
B | ||
| 15571 | chr1 | 149010429 | C | A |
c.5126-14C>A
|
-
|
- | 3.0 |
|
B |