Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16823 | chr16 | 81937826 | G | A |
c.3121G>A
|
p.Glu1041Lys
|
- | 3.0 |
|
B | |
| 5884 | chr16 | 81937887 | T | C |
c.3182T>C
|
p.Met1061Thr
|
- | 3.0 |
|
B | |
| 16657 | chr16 | 81938782 | C | CT |
c.3199-17dup
|
-
|
- | 3.0 |
|
B | |
| 34640 | chr16 | 81940065 | A | T |
c.3481+6A>T
|
-
|
- | 3.0 |
|
B | |
| 10125 | chr16 | 81940066 | G | A |
c.3481+7G>A
|
-
|
3.0 |
|
B | ||
| 1898 | chr16 | 81946157 | C | T |
c.3482-18C>T
|
-
|
3.0 |
|
B | ||
| 6889 | chr16 | 81956794 | C | T |
c.3670C>T
|
p.Arg1224Cys
|
3.0 |
|
B | ||
| 30324 | chr16 | 81956795 | G | A |
c.3671G>A
|
p.Arg1224His
|
2.0 |
|
B | ||
| 11712 | chr16 | 81956890 | C | T |
c.3755+11C>T
|
-
|
2.5 |
|
B | ||
| 6360 | chr16 | 83795078 | GA | G |
c.*59del
|
-
|
1.0 |
|
B | ||
| 4859 | chr16 | 83960662 | G | T |
c.298G>T
|
p.Gly100Trp
|
3.0 |
|
B | ||
| 15837 | chr16 | 85648683 | AC | A |
c.366del
|
p.Val123TrpfsTer2
|
3.0 |
|
B | ||
| 3332 | chr16 | 88822638 | G | A |
c.1315C>T
|
p.Pro439Ser
|
3.0 |
|
B | ||
| 28609 | chr16 | 88876980 | C | T |
c.1958G>A
|
p.Arg653His
|
3.0 |
|
B | ||
| 20565 | chr16 | 88877050 | C | T |
c.1888G>A
|
p.Glu630Lys
|
3.0 |
|
B | ||
| 21989 | chr16 | 88881431 | C | T |
c.1262G>A
|
p.Arg421His
|
3.0 |
|
B | ||
| 28851 | chr16 | 88881500 | G | A |
c.1204-11C>T
|
-
|
- | 3.0 |
|
B | |
| 33186 | chr16 | 88882714 | C | G |
c.1165G>C
|
p.Glu389Gln
|
- | 3.0 |
|
B | |
| 34701 | chr16 | 88886040 | C | T |
c.814G>A
|
p.Ala272Thr
|
3.0 |
|
B | ||
| 31298 | chr16 | 88891972 | C | T |
c.622-1G>A
|
p.?
|
- | 4.0 |
|
B |