Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15337 | chr1 | 186343930 | T | G |
c.3578A>C
|
p.Gln1193Pro
|
- | 3.0 |
|
B | |
| 26662 | chr1 | 186344548 | A | T |
c.3244T>A
|
p.Tyr1082Asn
|
- | 3.0 |
|
B | |
| 15925 | chr1 | 186350345 | T | C |
c.2654A>G
|
p.Asn885Ser
|
3.0 |
|
B | ||
| 20889 | chr1 | 186351486 | G | A |
c.2470-16C>T
|
-
|
3.0 |
|
B | ||
| 19368 | chr1 | 186351487 | A | AT |
c.2470-18dup
|
-
|
- | 3.0 |
|
B | |
| 26691 | chr1 | 186352117 | A | AT |
c.2335-8dup
|
-
|
2.0 |
|
B | ||
| 30215 | chr1 | 186353672 | G | A |
c.2334+16C>T
|
-
|
- | 3.0 |
|
B | |
| 24815 | chr1 | 186353779 | TTC | T |
c.2241_2242del
|
p.Lys748ThrfsTer24
|
- | 3.0 |
|
B | |
| 29682 | chr1 | 186359966 | G | C |
c.1222C>G
|
p.Gln408Glu
|
3.0 |
|
B | ||
| 34694 | chr1 | 186360849 | C | T |
c.1015G>A
|
p.Glu339Lys
|
- | 3.0 |
|
B | |
| 32435 | chr1 | 186361788 | C | T |
c.870+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 16391 | chr1 | 186361793 | T | A |
c.866A>T
|
p.Tyr289Phe
|
- | 3.0 |
|
B | |
| 31949 | chr1 | 186361879 | A | AC |
c.790-11_790-10insG
|
-
|
- | 3.0 |
|
B | |
| 26169 | chr1 | 186362286 | A | G |
c.789+2T>C
|
p.?
|
- | 3.0 |
|
B | |
| 32226 | chr1 | 186367958 | C | A |
c.355G>T
|
p.Glu119Ter
|
- | 3.0 |
|
B | |
| 24034 | chr1 | 186371036 | T | A |
c.264A>T
-
|
p.Gln88His
-
|
- | 3.0 |
|
B | |
| 32257 | chr1 | 186373358 | C | A |
c.256+1G>T
-
|
p.?
-
|
- | 3.0 |
|
B | |
| 33607 | chr1 | 186373395 | CT | C |
c.219del
-
|
p.Glu74SerfsTer9
-
|
- | 3.0 |
|
B | |
| 21072 | chr1 | 186373439 | T | C |
c.176A>G
-
|
p.Lys59Arg
-
|
- | 3.0 |
|
B | |
| 15289 | chr1 | 186674431 | G | C |
c.1737C>G
|
p.Ile579Met
|
3.0 |
|
B |