Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10284 | chr22 | 23181915 | C | T |
c.955C>T
|
p.Arg319Trp
|
3.0 |
|
B | ||
| 10948 | chr22 | 23182044 | A | G |
c.1084A>G
|
p.Met362Val
|
- | 3.0 |
|
B | |
| 24711 | chr22 | 23182236 | G | C |
c.1276G>C
|
p.Ala426Pro
|
- | 3.0 |
|
B | |
| 21248 | chr22 | 23183045 | C | T |
c.1279+806C>T
|
-
|
- | 3.0 |
|
B | |
| 10896 | chr22 | 23198591 | C | T |
c.1279+16352C>T
|
-
|
- | 3.0 |
|
B | |
| 11012 | chr22 | 23242945 | A | G |
c.1280-10854A>G
|
-
|
1.0 |
|
B | ||
| 35065 | chr22 | 23253885 | A | G |
c.1366A>G
|
p.Ile456Val
|
3.0 |
|
B | ||
| 22416 | chr22 | 23253951 | G | A |
c.1432G>A
|
p.Val478Ile
|
- | 3.0 |
|
B | |
| 12219 | chr22 | 23253976 | A | T |
c.1457A>T
|
p.Lys486Ile
|
- | 3.0 |
|
B | |
| 6528 | chr22 | 23260972 | G | C |
c.1484G>C
|
p.Gly495Ala
|
- | 3.0 |
|
B | |
| 10024 | chr22 | 23260992 | G | C |
c.1504G>C
|
p.Val502Leu
|
- | 3.0 |
|
B | |
| 11454 | chr22 | 23261016 | G | A |
c.1528G>A
|
p.Glu510Lys
|
3.0 |
|
B | ||
| 26437 | chr22 | 23261485 | C | T |
c.1697C>T
|
p.Pro566Leu
|
- | 3.0 |
|
B | |
| 29423 | chr22 | 23268531 | C | T |
c.1860+16C>T
|
-
|
3.0 |
|
B | ||
| 16386 | chr22 | 23273736 | A | C |
c.2077A>C
|
p.Thr693Pro
|
- | 3.0 |
|
B | |
| 31803 | chr22 | 23284041 | AC | A |
c.2181del
|
p.His727GlnfsTer61
|
- | 3.0 |
|
B | |
| 877 | chr22 | 23285124 | C | T |
c.2329C>T
|
p.Pro777Ser
|
3.0 |
|
B | ||
| 8392 | chr22 | 23288141 | G | A |
c.2571G>A
|
p.Trp857Ter
|
- | 3.0 |
|
B | |
| 22638 | chr22 | 23289513 | C | T |
c.2603-4C>T
|
-
|
3.0 |
|
B | ||
| 4607 | chr22 | 23289626 | G | GC |
c.2707+12dup
|
-
|
1.0 |
|
B |