Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2752 | chr14 | 21414933 | C | T |
c.2024+5G>A
|
-
|
- | 3.0 |
|
B | |
| 3856 | chr14 | 21414986 | G | C |
c.1976C>G
|
p.Ser659Cys
|
- | 3.0 |
|
B | |
| 32388 | chr14 | 21415576 | C | T |
c.1966G>A
|
p.Glu656Lys
|
- | 3.0 |
|
B | |
| 18154 | chr14 | 21415892 | G | A |
c.1732C>T
|
p.Arg578Cys
|
3.0 |
|
B | ||
| 21173 | chr14 | 21426154 | G | A |
c.1690C>T
|
p.Arg564Ter
|
3.0 |
|
B | ||
| 33119 | chr14 | 21427862 | T | C |
c.1601+7A>G
|
-
|
3.0 |
|
B | ||
| 30942 | chr14 | 21427870 | T | G |
c.1600A>C
|
p.Asn534His
|
- | 3.0 |
|
B | |
| 1339 | chr14 | 21427908 | G | A |
c.1562C>T
|
p.Thr521Ile
|
3.0 |
|
B | ||
| 25268 | chr14 | 21427929 | T | C |
c.1541A>G
|
p.Glu514Gly
|
- | 3.0 |
|
B | |
| 32475 | chr14 | 21428107 | G | C |
c.1363C>G
|
p.Gln455Glu
|
3.0 |
|
B | ||
| 7677 | chr14 | 21429125 | G | A |
c.1054C>T
|
p.Gln352Ter
|
3.0 |
|
B | ||
| 6065 | chr14 | 21429229 | T | C |
c.950A>G
|
p.Gln317Arg
|
- | 3.0 |
|
B | |
| 2084 | chr14 | 21431343 | TGGCAGGCTGAGTG | T |
c.288_300del
|
p.Thr97AlafsTer29
|
- | 3.0 |
|
B | |
| 8389 | chr14 | 21431462 | G | A |
c.182C>T
|
p.Ser61Leu
|
- | 3.0 |
|
B | |
| 9462 | chr14 | 21431508 | AGG | A |
c.134_135del
|
p.Ser45PhefsTer12
|
- | 3.0 |
|
B | |
| 33840 | chr14 | 22974058 | A | C |
c.1480T>G
|
p.Tyr494Asp
|
- | 3.0 |
|
B | |
| 11055 | chr14 | 22974958 | C | A |
c.1370+16G>T
|
-
|
- | 3.0 |
|
B | |
| 7833 | chr14 | 22974983 | T | A |
c.1361A>T
|
p.Asp454Val
|
- | 3.0 |
|
B | |
| 30343 | chr14 | 22975080 | A | C |
c.1264T>G
|
p.Tyr422Asp
|
- | 3.0 |
|
B | |
| 10713 | chr14 | 22976635 | C | T |
c.1176+10G>A
|
-
|
- | 3.0 |
|
B |