Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9211 | chr17 | 50539293 | A | T |
c.869A>T
|
p.Glu290Val
|
- | 3.0 |
|
B | |
| 3275 | chr17 | 50624009 | C | T |
c.6163C>T
|
p.Arg2055Trp
|
3.0 |
|
B | ||
| 15271 | chr17 | 56153517 | C | T |
c.-84C>T
|
-
|
3.0 |
|
B | ||
| 4542 | chr17 | 56499062 | C | T |
c.2608C>T
|
p.Pro870Ser
|
3.0 |
|
B | ||
| 4543 | chr17 | 56946450 | G | A |
c.1550C>T
|
p.Ser517Phe
|
- | 3.0 |
|
B | |
| 17552 | chr17 | 56950654 | CT | C |
c.587del
|
p.Lys196ArgfsTer13
|
3.0 |
|
B | ||
| 4987 | chr17 | 58270865 | T | G |
c.2031-2A>C
-
|
p.?
-
|
4.0 |
|
B | ||
| 14481 | chr17 | 58355001 | C | A |
c.2309-15G>T
-
|
-
-
|
3.0 |
|
B | ||
| 767 | chr17 | 58357581 | C | T |
c.2195G>A
|
p.Arg732His
|
2.5 |
|
B | ||
| 18418 | chr17 | 58357760 | T | TGC |
c.2014_2015dup
|
p.Thr673GlnfsTer28
|
- | 4.0 |
|
B | |
| 26017 | chr17 | 58357773 | C | T |
c.2003G>A
|
p.Arg668Gln
|
2.5 |
|
B | ||
| 1617 | chr17 | 58357799 | AC | A |
c.1976del
|
p.Gly659ValfsTer41
|
4.0 |
|
B | ||
| 6667 | chr17 | 58357939 | G | A |
c.1837C>T
|
p.Pro613Ser
|
- | 3.0 |
|
B | |
| 5790 | chr17 | 58358292 | G | A |
c.1484C>T
|
p.Ser495Phe
|
- | 3.0 |
|
B | |
| 18981 | chr17 | 58358310 | C | T |
c.1466G>A
|
p.Gly489Glu
|
- | 3.0 |
|
B | |
| 2075 | chr17 | 58358412 | C | G |
c.1364G>C
|
p.Ser455Thr
|
- | 3.0 |
|
B | |
| 10046 | chr17 | 58358484 | CA | C |
c.1291del
|
p.Cys431AlafsTer71
|
- | 4.0 |
|
B | |
| 16988 | chr17 | 58358509 | AT | A |
c.1266del
|
p.Gln422HisfsTer80
|
- | 4.0 |
|
B | |
| 31451 | chr17 | 58358542 | A | G |
c.1234T>C
|
p.Tyr412His
|
- | 3.0 |
|
B | |
| 17035 | chr17 | 58358565 | C | T |
c.1211G>A
|
p.Arg404His
|
2.5 |
|
B |