Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28378 | chr6 | 18130796 | G | C |
c.626-16C>G
|
-
|
- | 3.0 |
|
B | |
| 2777 | chr6 | 18138988 | C | T |
c.469G>A
|
p.Ala157Thr
|
- | 3.0 |
|
B | |
| 18841 | chr6 | 18139007 | C | T |
c.450G>A
|
p.Trp150Ter
|
- | 3.0 |
|
B | |
| 18842 | chr6 | 18139013 | C | T |
c.444G>A
|
p.Met148Ile
|
- | 3.0 |
|
B | |
| 18843 | chr6 | 18139038 | C | A |
c.420-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 13333 | chr6 | 18147847 | CAA | C |
c.207_208del
|
p.Cys70ArgfsTer5
|
3.0 |
|
B | ||
| 33646 | chr6 | 18147881 | C | T |
c.175G>A
|
p.Gly59Ser
|
- | 3.0 |
|
B | |
| 16199 | chr6 | 18147924 | GA | G |
c.141-10del
|
-
|
3.0 |
|
B | ||
| 33012 | chr6 | 18148979 | AT | A |
c.140+8del
|
-
|
- | 3.0 |
|
B | |
| 33123 | chr6 | 18149057 | A | G |
c.71T>C
|
p.Leu24Pro
|
3.0 |
|
B | ||
| 28588 | chr6 | 18149097 | C | T |
c.31G>A
|
p.Glu11Lys
|
3.0 |
|
B | ||
| 27096 | chr6 | 18225727 | T | G |
-
c.1120A>C
|
-
p.Ile374Leu
|
- | 3.0 |
|
B | |
| 28119 | chr6 | 18237493 | T | TCTTTTGG |
c.779_785dup
|
p.Arg262SerfsTer7
|
- | 3.0 |
|
B | |
| 30359 | chr6 | 18255866 | G | A |
c.453-15C>T
|
-
|
3.0 |
|
B | ||
| 17182 | chr6 | 18256468 | CTTATTA | C |
c.358-19_358-14del
|
-
|
- | 3.0 |
|
B | |
| 24843 | chr6 | 18258068 | G | GA |
c.248-7dup
|
-
|
3.0 |
|
B | ||
| 19462 | chr6 | 18258068 | GA | G |
c.248-7del
|
-
|
2.5 |
|
B | ||
| 19868 | chr6 | 18258068 | GAA | G |
c.248-8_248-7del
|
-
|
3.0 |
|
B | ||
| 16045 | chr6 | 18258339 | G | A |
c.212C>T
|
p.Ser71Phe
|
- | 3.0 |
|
B | |
| 19463 | chr6 | 18263865 | C | G |
c.123G>C
|
p.Glu41Asp
|
3.0 |
|
B |