Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16273 | chr6 | 137215252 | T | C |
c.85+3991A>G
|
-
|
3.0 |
|
B | ||
| 16881 | chr6 | 137219347 | G | A |
c.-20C>T
|
-
|
3.0 |
|
B | ||
| 1055 | chr6 | 137871339 | C | T |
c.112C>T
|
p.His38Tyr
|
- | 3.0 |
|
B | |
| 1056 | chr6 | 137871416 | C | T |
c.189C>T
|
p.Ile63=
|
- | 3.0 |
|
B | |
| 1057 | chr6 | 137871419 | C | T |
c.192C>T
|
p.Ile64=
|
- | 3.0 |
|
B | |
| 6776 | chr6 | 137871535 | C | G |
c.295+13C>G
|
-
|
3.0 |
|
B | ||
| 9093 | chr6 | 137874971 | G | A |
c.422G>A
|
p.Arg141His
|
3.0 |
|
B | ||
| 3286 | chr6 | 137874998 | A | C |
c.449A>C
|
p.Gln150Pro
|
- | 3.0 |
|
B | |
| 18490 | chr6 | 137875976 | C | T |
c.635-20C>T
|
-
|
- | 3.0 |
|
B | |
| 28956 | chr6 | 137876112 | G | T |
c.751G>T
|
p.Gly251Cys
|
- | 3.0 |
|
B | |
| 1336 | chr6 | 137878617 | A | G |
c.1172A>G
|
p.Asn391Ser
|
2.5 |
|
B | ||
| 21383 | chr6 | 137878627 | C | A |
c.1182C>A
|
p.Phe394Leu
|
3.0 |
|
B | ||
| 1775 | chr6 | 137878631 | A | G |
c.1186A>G
|
p.Met396Val
|
- | 3.0 |
|
B | |
| 1058 | chr6 | 137878666 | C | G |
c.1221C>G
|
p.Cys407Trp
|
- | 3.0 |
|
B | |
| 752 | chr6 | 137878713 | C | T |
c.1268C>T
|
p.Ser423Phe
|
- | 3.0 |
|
B | |
| 16897 | chr6 | 137878785 | C | T |
c.1340C>T
|
p.Ala447Val
|
3.0 |
|
B | ||
| 1059 | chr6 | 137878792 | C | T |
c.1347C>T
|
p.Asn449=
|
2.5 |
|
B | ||
| 33061 | chr6 | 137878829 | C | T |
c.1384C>T
|
p.Pro462Ser
|
3.0 |
|
B | ||
| 1060 | chr6 | 137878850 | C | G |
c.1405C>G
|
p.Leu469Val
|
- | 3.0 |
|
B | |
| 9553 | chr6 | 137878889 | G | T |
c.1444G>T
|
p.Gly482Cys
|
- | 3.0 |
|
B |