Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31150 | chr16 | 3770700 | G | A |
c.2750C>T
|
p.Thr917Ile
|
- | 3.0 |
|
B | |
| 26674 | chr16 | 3770835 | G | C |
c.2615C>G
|
p.Thr872Arg
|
- | 3.0 |
|
B | |
| 7917 | chr16 | 3770968 | C | T |
c.2482G>A
|
p.Ala828Thr
|
- | 3.0 |
|
B | |
| 2647 | chr16 | 3773761 | C | A |
c.2453G>T
|
p.Gly818Val
|
- | 3.0 |
|
B | |
| 4886 | chr16 | 3773798 | TCG | T |
c.2414_2415del
|
p.Ala805AspfsTer26
|
- | 4.0 |
|
B | |
| 6977 | chr16 | 3774562 | CACTT | C |
c.2283+3_2283+6del
|
-
|
- | 3.0 |
|
B | |
| 12984 | chr16 | 3774655 | G | A |
c.2197C>T
|
p.Gln733Ter
|
- | 4.0 |
|
B | |
| 22105 | chr16 | 3777661 | T | C |
c.2114-4A>G
|
-
|
3.0 |
|
B | ||
| 2865 | chr16 | 3778060 | CG | C |
c.2063del
|
p.Pro688ArgfsTer7
|
- | 4.0 |
|
B | |
| 957 | chr16 | 3778695 | C | T |
c.1941+5G>A
|
-
|
3.5 |
|
B | ||
| 8189 | chr16 | 3778809 | G | T |
c.1832C>A
|
p.Ala611Asp
|
- | 3.0 |
|
B | |
| 25770 | chr16 | 3781219 | G | A |
c.1661C>T
|
p.Ser554Phe
|
3.0 |
|
B | ||
| 11934 | chr16 | 3782700 | C | G |
c.1557G>C
|
p.Arg519Ser
|
- | 3.0 |
|
B | |
| 2869 | chr16 | 3782810 | G | A |
c.1447C>T
|
p.Arg483Ter
|
4.0 |
|
B | ||
| 28440 | chr16 | 3791995 | T | G |
c.1316A>C
|
p.Lys439Thr
|
- | 3.0 |
|
B | |
| 25462 | chr16 | 3793415 | G | A |
c.1187C>T
|
p.Thr396Met
|
3.0 |
|
B | ||
| 33448 | chr16 | 3793467 | C | CCCGAACCTCT |
c.1125_1134dup
|
p.Ala379ArgfsTer51
|
- | 4.0 |
|
B | |
| 9924 | chr16 | 3793551 | GT | G |
c.1050del
|
p.Lys350AsnfsTer4
|
- | 4.0 |
|
B | |
| 25558 | chr16 | 3793554 | T | C |
c.1048A>G
|
p.Lys350Glu
|
- | 3.0 |
|
B | |
| 17484 | chr16 | 3793572 | GGCCTGTT | G |
c.1023_1029del
|
p.Thr342ProfsTer10
|
- | 4.0 |
|
B |