Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30011 | chr11 | 119277824 | G | A |
c.1075G>A
|
p.Asp359Asn
|
3.0 |
|
B | ||
| 19086 | chr11 | 119277839 | A | G |
c.1090A>G
|
p.Thr364Ala
|
- | 3.0 |
|
B | |
| 12433 | chr11 | 119277863 | G | T |
c.1095+19G>T
|
-
|
1.0 |
|
B | ||
| 24831 | chr11 | 119278149 | A | AT |
c.1096-9dup
|
-
|
2.5 |
|
B | ||
| 24832 | chr11 | 119278159 | A | G |
c.1096-7A>G
|
-
|
3.0 |
|
B | ||
| 21629 | chr11 | 119278165 | G | A |
c.1096-1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 4088 | chr11 | 119278165 | G | T |
c.1096-1G>T
|
p.?
|
5.0 |
|
B | ||
| 33263 | chr11 | 119278173 | A | G |
c.1103A>G
|
p.Tyr368Cys
|
- | 3.0 |
|
B | |
| 440 | chr11 | 119278181 | T | C |
c.1111T>C
|
p.Tyr371His
|
5.0 |
|
B | ||
| 15317 | chr11 | 119278182 | A | T |
c.1112A>T
|
p.Tyr371Phe
|
4.0 |
|
B | ||
| 16028 | chr11 | 119278212 | G | A |
c.1142G>A
|
p.Cys381Tyr
|
3.0 |
|
B | ||
| 665 | chr11 | 119278215 | A | G |
c.1145A>G
|
p.Lys382Arg
|
- | 3.0 |
|
B | |
| 11606 | chr11 | 119278226 | G | A |
c.1156G>A
|
p.Glu386Lys
|
4.0 |
|
B | ||
| 8123 | chr11 | 119278264 | C | A |
c.1194C>A
|
p.His398Gln
|
- | 3.5 |
|
B | |
| 29851 | chr11 | 119278271 | T | G |
c.1201T>G
|
p.Cys401Gly
|
- | 3.0 |
|
B | |
| 9414 | chr11 | 119278509 | G | C |
c.1228-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 23747 | chr11 | 119278531 | C | T |
c.1249C>T
|
p.Pro417Ser
|
4.0 |
|
B | ||
| 3086 | chr11 | 119278536 | C | G |
c.1254C>G
|
p.Phe418Leu
|
- | 3.5 |
|
B | |
| 4228 | chr11 | 119278624 | G | A |
c.1342G>A
|
p.Glu448Lys
|
- | 3.0 |
|
B | |
| 21529 | chr11 | 119285312 | C | T |
c.1687C>T
|
p.Arg563Cys
|
3.0 |
|
B |