Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28175 | chr16 | 68808569 | T | C |
c.531+2T>C
|
p.?
|
- | 4.5 |
|
B | |
| 33523 | chr16 | 68808691 | A | C |
c.532-2A>C
|
p.?
|
- | 4.5 |
|
B | |
| 6161 | chr16 | 68808700 | C | T |
c.539C>T
|
p.Ser180Phe
|
- | 3.0 |
|
B | |
| 28860 | chr16 | 68808775 | T | C |
c.614T>C
|
p.Phe205Ser
|
3.0 |
|
B | ||
| 22657 | chr16 | 68808783 | G | A |
c.622G>A
|
p.Glu208Lys
|
3.0 |
|
B | ||
| 22779 | chr16 | 68808828 | G | C |
c.667G>C
|
p.Glu223Gln
|
- | 3.0 |
|
B | |
| 10930 | chr16 | 68808829 | A | G |
c.668A>G
|
p.Glu223Gly
|
- | 3.0 |
|
B | |
| 12504 | chr16 | 68808860 | T | G |
c.687+12T>G
|
-
|
- | 3.0 |
|
B | |
| 10931 | chr16 | 68810250 | G | T |
c.741G>T
|
p.Glu247Asp
|
- | 3.0 |
|
B | |
| 33632 | chr16 | 68810269 | G | A |
c.760G>A
|
p.Asp254Asn
|
3.5 |
|
B | ||
| 34256 | chr16 | 68810276 | A | G |
c.767A>G
|
p.Asn256Ser
|
- | 3.0 |
|
B | |
| 24850 | chr16 | 68810278 | GACA | G |
c.774_776del
|
p.Asn258del
|
- | 3.0 |
|
B | |
| 14004 | chr16 | 68810288 | C | G |
c.779C>G
|
p.Pro260Arg
|
- | 3.0 |
|
B | |
| 16919 | chr16 | 68811714 | A | T |
c.863A>T
|
p.Asp288Val
|
- | 3.0 |
|
B | |
| 16208 | chr16 | 68811719 | GACGATGATGTGAAC | G |
c.871_884del
|
p.Asp291LeufsTer15
|
- | 4.0 |
|
B | |
| 32427 | chr16 | 68811720 | A | T |
c.869A>T
|
p.Asp290Val
|
- | 3.0 |
|
B | |
| 19105 | chr16 | 68811764 | C | A |
c.913C>A
|
p.Leu305Ile
|
- | 3.0 |
|
B | |
| 1629 | chr16 | 68811790 | CA | C |
c.944del
|
p.Asn315IlefsTer41
|
- | 4.0 |
|
B | |
| 5720 | chr16 | 68811801 | T | C |
c.950T>C
|
p.Phe317Ser
|
- | 3.0 |
|
B | |
| 30757 | chr16 | 68811806 | AT | A |
c.957del
|
p.Asn320ThrfsTer36
|
- | 4.0 |
|
B |