Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31790 | chr16 | 50750166 | G | T |
c.468G>T
|
p.Arg156Ser
|
- | 3.0 |
|
B | |
| 25848 | chr16 | 50750170 | G | C |
c.472G>C
|
p.Val158Leu
|
- | 3.0 |
|
B | |
| 8654 | chr16 | 50751613 | C | T |
c.514C>T
|
p.Arg172Cys
|
2.0 |
|
B | ||
| 21011 | chr16 | 50751673 | G | A |
c.574G>A
|
p.Asp192Asn
|
- | 3.0 |
|
B | |
| 28727 | chr16 | 50751831 | A | G |
c.732A>G
|
p.Ile244Met
|
- | 3.0 |
|
B | |
| 6196 | chr16 | 50777915 | C | A |
c.1112C>A
|
p.Ser371Ter
|
4.5 |
|
B | ||
| 27559 | chr16 | 50779957 | A | T |
c.1431A>T
|
p.Glu477Asp
|
- | 3.0 |
|
B | |
| 27560 | chr16 | 50779958 | G | T |
c.1432G>T
|
p.Val478Phe
|
- | 3.0 |
|
B | |
| 22379 | chr16 | 50779991 | C | T |
c.1465C>T
|
p.Arg489Cys
|
3.0 |
|
B | ||
| 3890 | chr16 | 50781246 | G | T |
c.1519G>T
|
p.Glu507Ter
|
- | 4.0 |
|
B | |
| 6241 | chr16 | 50781290 | TCGGTA | T |
c.1564_1568del
|
p.Arg522PhefsTer19
|
- | 4.0 |
|
B | |
| 6978 | chr16 | 50781358 | G | T |
c.1631G>T
|
p.Arg544Met
|
- | 3.0 |
|
B | |
| 26917 | chr16 | 50781400 | G | A |
c.1673G>A
|
p.Cys558Tyr
|
- | 3.0 |
|
B | |
| 25108 | chr16 | 50781422 | G | A |
c.1684+11G>A
|
-
|
- | 3.0 |
|
B | |
| 25316 | chr16 | 50782432 | T | A |
c.1792T>A
|
p.Tyr598Asn
|
- | 3.0 |
|
B | |
| 16472 | chr16 | 50784320 | C | G |
c.1827-9C>G
|
-
|
- | 3.0 |
|
B | |
| 29570 | chr16 | 50791577 | CAAGATTGTTACTTCTATCAAATTTTTATGG | C |
c.2131_2160del
|
p.Asp711_Glu720del
|
- | 3.0 |
|
B | |
| 24316 | chr16 | 50791595 | C | G |
c.2146C>G
|
p.Gln716Glu
|
- | 3.0 |
|
B | |
| 24126 | chr16 | 50791607 | GA | G |
c.2165del
|
p.Asn722MetfsTer13
|
- | 4.0 |
|
B | |
| 7529 | chr16 | 50792699 | G | T |
c.2344G>T
|
p.Glu782Ter
|
- | 4.0 |
|
B |