Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1488 | chr8 | 68053092 | T | C |
c.944-5T>C
|
-
|
- | 3.0 |
|
B | |
| 32764 | chr8 | 68053099 | G | T |
c.946G>T
|
p.Asp316Tyr
|
- | 3.0 |
|
B | |
| 26398 | chr8 | 68053100 | A | G |
c.947A>G
|
p.Asp316Gly
|
3.0 |
|
B | ||
| 23498 | chr8 | 68053187 | C | A |
c.1034C>A
|
p.Thr345Lys
|
- | 3.0 |
|
B | |
| 3266 | chr8 | 68053237 | C | T |
c.1084C>T
|
p.Arg362Trp
|
3.5 |
|
B | ||
| 9472 | chr8 | 68053240 | C | T |
c.1087C>T
|
p.Arg363Trp
|
3.0 |
|
B | ||
| 34476 | chr8 | 68055814 | C | G |
c.1094-16C>G
|
-
|
- | 3.0 |
|
B | |
| 10894 | chr8 | 68055815 | T | A |
c.1094-15T>A
|
-
|
- | 3.0 |
|
B | |
| 29293 | chr8 | 68055930 | C | A |
c.1194C>A
|
p.Asp398Glu
|
- | 3.0 |
|
B | |
| 30314 | chr8 | 68055950 | C | T |
c.1214C>T
|
p.Thr405Met
|
3.0 |
|
B | ||
| 13843 | chr8 | 68060670 | C | G |
c.1239-9C>G
|
-
|
- | 3.0 |
|
B | |
| 3235 | chr8 | 68060768 | T | A |
c.1328T>A
|
p.Ile443Asn
|
- | 3.0 |
|
B | |
| 11741 | chr8 | 68069081 | G | T |
c.1388G>T
|
p.Arg463Leu
|
- | 3.0 |
|
B | |
| 6033 | chr8 | 68069107 | A | T |
c.1414A>T
|
p.Arg472Ter
|
- | 3.0 |
|
B | |
| 9968 | chr8 | 68069134 | A | T |
c.1441A>T
|
p.Lys481Ter
|
- | 3.0 |
|
B | |
| 1230 | chr8 | 68069891 | C | T |
c.1493+7C>T
|
-
|
- | 3.0 |
|
B | |
| 14463 | chr8 | 68072479 | AT | A |
c.1494-10del
|
-
|
- | 3.0 |
|
B | |
| 24757 | chr8 | 68072571 | G | A |
c.1569+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 11752 | chr8 | 68080457 | G | A |
c.1657G>A
|
p.Glu553Lys
|
3.0 |
|
B | ||
| 19615 | chr8 | 68080485 | GT | G |
c.1693del
|
p.Ser565ArgfsTer10
|
3.0 |
|
B |