Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21031 | chr5 | 138934063 | G | A |
c.2695G>A
|
p.Glu899Lys
|
3.0 |
|
B | ||
| 20317 | chr5 | 139847910 | CG | C |
c.*6del
-
|
-
-
|
- | 3.0 |
|
B | |
| 7286 | chr5 | 139848014 | C | T |
c.2456G>A
-
|
p.Arg819Lys
-
|
- | 3.0 |
|
B | |
| 18856 | chr5 | 139848025 | C | T |
c.2445G>A
-
|
p.Ala815=
-
|
- | 3.0 |
|
B | |
| 9852 | chr5 | 139848455 | C | T |
c.2015G>A
-
|
p.Arg672His
-
|
- | 3.0 |
|
B | |
| 20318 | chr5 | 139848673 | G | A |
c.1797C>T
-
|
p.Pro599=
-
|
3.0 |
|
B | ||
| 12652 | chr5 | 139852537 | G | A |
c.1439C>T
|
p.Ala480Val
|
- | 3.0 |
|
B | |
| 33350 | chr5 | 139852948 | G | A |
c.1372C>T
|
p.Pro458Ser
|
- | 3.0 |
|
B | |
| 29554 | chr5 | 139855745 | G | T |
c.1223C>A
|
p.Thr408Asn
|
- | 3.0 |
|
B | |
| 12545 | chr5 | 139855793 | T | C |
c.1190-15A>G
|
-
|
- | 3.0 |
|
B | |
| 16646 | chr5 | 139865154 | C | T |
c.1189+395G>A
|
-
|
3.0 |
|
B | ||
| 20952 | chr5 | 139865187 | G | A |
c.1189+362C>T
|
-
|
- | 3.0 |
|
B | |
| 33341 | chr5 | 139904297 | G | T |
c.701-16786C>A
|
-
|
- | 3.0 |
|
B | |
| 16722 | chr5 | 140042394 | C | T |
c.676G>A
|
p.Gly226Ser
|
- | 3.0 |
|
B | |
| 23355 | chr5 | 140042406 | T | G |
c.664A>C
|
p.Lys222Gln
|
- | 3.0 |
|
B | |
| 34200 | chr5 | 140042695 | G | T |
c.375C>A
|
p.Tyr125Ter
|
- | 3.0 |
|
B | |
| 28338 | chr5 | 140042946 | CGCT | C |
c.121_123del
|
p.Ser41del
|
3.0 |
|
B | ||
| 19866 | chr5 | 140115261 | TAA | T |
c.*125_*126del
|
-
|
3.0 |
|
B | ||
| 19459 | chr5 | 140115261 | TAAA | T |
c.*124_*126del
|
-
|
3.0 |
|
B | ||
| 4830 | chr5 | 140858158 | G | A |
c.2394+69474G>A
c.2394+54567G>A
c.2394+27673G>A
c.2394+14443G>A
c.2394+7269G>A
c.2110G>A
c.2388+60806G>A
c.2385+48586G>A
c.2355+21420G>A
c.2352+34031G>A
|
-
-
-
-
-
p.Ala704Thr
-
-
-
-
|
3.0 |
|
B |