Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17009 | chr10 | 102837073 | G | A |
c.289C>T
|
p.Pro97Ser
|
- | 3.0 |
|
B | |
| 20368 | chr10 | 102837184 | AT | A |
c.177del
|
p.Lys59AsnfsTer16
|
3.0 |
|
B | ||
| 6615 | chr10 | 102837201 | A | G |
c.161T>C
|
p.Phe54Ser
|
- | 3.0 |
|
B | |
| 5365 | chr10 | 103089698 | C | T |
c.*12518C>T
c.1660G>A
|
-
p.Glu554Lys
|
- | 3.0 |
|
B | |
| 12184 | chr10 | 103090706 | TG | T |
-
c.1353del
|
-
p.Ser452ValfsTer3
|
- | 3.0 |
|
B | |
| 19640 | chr10 | 103094353 | C | T |
-
c.916G>A
|
-
p.Asp306Asn
|
- | 3.0 |
|
B | |
| 5783 | chr10 | 103095981 | C | T |
c.772-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 19696 | chr10 | 103095984 | GA | G |
c.772-5del
|
-
|
2.5 |
|
B | ||
| 26901 | chr10 | 103098996 | C | CA |
c.634-13dup
|
-
|
2.5 |
|
B | ||
| 8646 | chr10 | 103101327 | C | A |
c.390-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 20811 | chr10 | 103106721 | G | A |
c.176-15C>T
|
-
|
2.0 |
|
B | ||
| 22761 | chr10 | 103139427 | C | G |
c.154G>C
|
p.Asp52His
|
- | 3.0 |
|
B | |
| 18988 | chr10 | 103139466 | G | A |
c.115C>T
|
p.Arg39Ter
|
3.0 |
|
B | ||
| 33209 | chr10 | 103278153 | G | T |
c.942G>T
|
p.Glu314Asp
|
- | 3.0 |
|
B | |
| 14766 | chr10 | 103999118 | G | A |
c.588-1G>A
|
p.?
|
3.5 |
|
B | ||
| 14767 | chr10 | 103999119 | G | A |
c.588G>A
|
p.Trp196Ter
|
- | 3.5 |
|
B | |
| 15823 | chr10 | 110133591 | CA | C |
c.2102del
|
p.Lys701ArgfsTer8
|
3.0 |
|
B | ||
| 18454 | chr10 | 110567819 | G | A |
c.3G>A
|
p.Met1?
|
- | 3.5 |
|
B | |
| 11904 | chr10 | 110567842 | C | T |
c.15+11C>T
|
-
|
2.5 |
|
B | ||
| 28759 | chr10 | 110575374 | C | T |
c.169C>T
|
p.Arg57Cys
|
3.0 |
|
B |