Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8016 | chr16 | 72957810 | G | A |
c.2336C>T
|
p.Ala779Val
|
3.0 |
|
B | ||
| 15836 | chr16 | 72957858 | TC | T |
c.2287del
|
p.Glu763SerfsTer61
|
- | 4.0 |
|
B | |
| 14675 | chr16 | 72958092 | G | A |
c.2054C>T
|
p.Thr685Ile
|
- | 3.0 |
|
B | |
| 4024 | chr16 | 72958702 | C | T |
c.1444G>A
|
p.Glu482Lys
|
- | 3.0 |
|
B | |
| 15867 | chr16 | 72958773 | G | C |
c.1373C>G
|
p.Pro458Arg
|
- | 3.0 |
|
B | |
| 5522 | chr16 | 72958882 | G | A |
c.1264C>T
|
p.Pro422Ser
|
3.0 |
|
B | ||
| 32834 | chr16 | 72958885 | C | A |
c.1261G>T
|
p.Gly421Trp
|
- | 3.0 |
|
B | |
| 2107 | chr16 | 72958886 | CA | C |
c.1259del
|
p.Leu420ArgfsTer37
|
- | 4.0 |
|
B | |
| 794 | chr16 | 72958890 | G | A |
c.1256C>T
|
p.Pro419Leu
|
3.0 |
|
B | ||
| 5946 | chr16 | 72958996 | C | T |
c.1150G>A
|
p.Ala384Thr
|
3.0 |
|
B | ||
| 11487 | chr16 | 72959057 | A | T |
c.1089T>A
|
p.Ser363Arg
|
- | 3.0 |
|
B | |
| 24426 | chr16 | 72959108 | GT | G |
c.1037del
|
p.Asn346ThrfsTer6
|
- | 4.0 |
|
B | |
| 2948 | chr16 | 72959296 | A | G |
c.850T>C
|
p.Cys284Arg
|
- | 3.0 |
|
B | |
| 27418 | chr16 | 72959316 | T | A |
c.830A>T
|
p.Lys277Met
|
- | 3.0 |
|
B | |
| 11000 | chr16 | 72959404 | C | T |
c.742G>A
|
p.Asp248Asn
|
3.0 |
|
B | ||
| 33277 | chr16 | 72959436 | C | T |
c.710G>A
|
p.Arg237Gln
|
3.0 |
|
B | ||
| 32877 | chr16 | 72959469 | G | A |
c.677C>T
|
p.Pro226Leu
|
- | 3.0 |
|
B | |
| 5837 | chr16 | 72959479 | C | T |
c.667G>A
|
p.Gly223Arg
|
- | 3.0 |
|
B | |
| 28922 | chr16 | 72959623 | G | A |
c.523C>T
|
p.Pro175Ser
|
3.0 |
|
B | ||
| 25927 | chr16 | 72959784 | T | C |
c.362A>G
|
p.Asp121Gly
|
- | 3.0 |
|
B |