Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30388 | chr8 | 1909404 | G | A |
c.2077G>A
|
p.Glu693Lys
|
3.0 |
|
B | ||
| 20350 | chr8 | 1923790 | T | C |
c.2404T>C
|
p.Phe802Leu
|
- | 3.0 |
|
B | |
| 15191 | chr8 | 1928589 | G | A |
c.2860G>A
|
p.Glu954Lys
|
3.0 |
|
B | ||
| 31951 | chr8 | 1929405 | T | G |
c.3041T>G
|
p.Leu1014Arg
|
- | 3.0 |
|
B | |
| 18977 | chr8 | 1929458 | A | C |
c.3079+15A>C
|
-
|
- | 3.0 |
|
B | |
| 19316 | chr8 | 1933851 | C | T |
c.3131C>T
|
p.Pro1044Leu
|
- | 3.0 |
|
B | |
| 25014 | chr8 | 1945575 | C | T |
c.3317C>T
|
p.Thr1106Met
|
3.0 |
|
B | ||
| 16757 | chr8 | 1957153 | G | C |
c.3925G>C
|
p.Val1309Leu
|
3.0 |
|
B | ||
| 28717 | chr8 | 1957174 | C | T |
c.3946C>T
|
p.Arg1316Cys
|
3.0 |
|
B | ||
| 20704 | chr8 | 2965755 | C | A |
c.9280+20G>T
|
-
|
- | 3.0 |
|
B | |
| 23491 | chr8 | 11708394 | C | G |
c.82C>G
|
p.His28Asp
|
3.0 |
|
B | ||
| 32783 | chr8 | 11708645 | G | A |
c.333G>A
|
p.Pro111=
|
2.0 |
|
B | ||
| 21315 | chr8 | 11708831 | G | T |
c.519G>T
|
p.Trp173Cys
|
- | 3.0 |
|
B | |
| 4930 | chr8 | 11749000 | C | T |
c.701C>T
|
p.Thr234Met
|
- | 3.0 |
|
B | |
| 13425 | chr8 | 11749072 | C | T |
c.773C>T
|
p.Pro258Leu
|
3.0 |
|
B | ||
| 13736 | chr8 | 11750174 | C | T |
c.850C>T
|
p.Arg284Cys
|
- | 3.0 |
|
B | |
| 21873 | chr8 | 11750237 | G | T |
c.912+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 23835 | chr8 | 11755067 | C | T |
c.934C>T
|
p.Arg312Trp
|
3.0 |
|
B | ||
| 23492 | chr8 | 11757008 | C | A |
c.1074C>A
|
p.Ser358Arg
|
- | 3.0 |
|
B | |
| 25883 | chr8 | 11757103 | C | T |
c.1149+20C>T
|
-
|
2.0 |
|
B |