Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28112 | chr1 | 206478233 | G | A |
c.886G>A
|
p.Asp296Asn
|
3.0 |
|
B | ||
| 34684 | chr1 | 206478275 | G | T |
c.928G>T
|
p.Val310Phe
|
- | 3.0 |
|
B | |
| 3507 | chr1 | 206478278 | G | A |
c.931G>A
|
p.Val311Ile
|
2.5 |
|
B | ||
| 3381 | chr1 | 206478291 | C | T |
c.944C>T
|
p.Ser315Phe
|
3.0 |
|
B | ||
| 19948 | chr1 | 206478339 | C | T |
c.992C>T
|
p.Thr331Met
|
3.0 |
|
B | ||
| 24714 | chr1 | 206478358 | G | A |
c.992+19G>A
|
-
|
3.0 |
|
B | ||
| 14583 | chr1 | 206478993 | G | A |
c.1043G>A
|
p.Arg348Gln
|
3.0 |
|
B | ||
| 8313 | chr1 | 206479126 | C | G |
c.1176C>G
|
p.Phe392Leu
|
- | 3.0 |
|
B | |
| 2589 | chr1 | 206479862 | G | T |
c.1184-8G>T
|
-
|
3.0 |
|
B | ||
| 34739 | chr1 | 206479943 | C | A |
c.1248+9C>A
|
-
|
- | 3.0 |
|
B | |
| 22823 | chr1 | 206480111 | C | T |
c.1338C>T
|
p.Val446=
|
- | 3.0 |
|
B | |
| 27456 | chr1 | 206480435 | C | T |
c.1341-12C>T
|
-
|
- | 3.0 |
|
B | |
| 26540 | chr1 | 206485233 | G | T |
c.1543G>T
|
p.Glu515Ter
|
- | 3.0 |
|
B | |
| 7931 | chr1 | 206487895 | C | T |
c.1617-19C>T
|
-
|
- | 3.0 |
|
B | |
| 17638 | chr1 | 206487905 | T | C |
c.1617-9T>C
|
-
|
3.0 |
|
B | ||
| 31617 | chr1 | 206487960 | A | C |
c.1663A>C
|
p.Lys555Gln
|
- | 3.0 |
|
B | |
| 11803 | chr1 | 206490802 | C | T |
c.1694-17C>T
|
-
|
- | 3.0 |
|
B | |
| 9338 | chr1 | 206490812 | C | T |
c.1694-7C>T
|
-
|
- | 3.0 |
|
B | |
| 29821 | chr1 | 206493324 | C | T |
c.1991C>T
|
p.Ser664Leu
|
3.0 |
|
B | ||
| 13580 | chr1 | 206603218 | A | C |
c.531-14T>G
|
-
|
- | 3.0 |
|
B |