Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33937 | chr6 | 152094377 | G | A |
c.1370-8G>A
|
-
|
3.0 |
|
B | ||
| 27786 | chr6 | 152094467 | C | CACTT |
c.1453_1456dup
|
p.Leu486TyrfsTer35
|
- | 3.0 |
|
B | |
| 22737 | chr6 | 152094566 | G | C |
c.1551G>C
|
p.Met517Ile
|
- | 3.0 |
|
B | |
| 13187 | chr6 | 152098775 | G | A |
c.1597G>A
|
p.Val533Met
|
3.0 |
|
B | ||
| 19255 | chr6 | 152098785 | T | A |
c.1607T>A
|
p.Leu536His
|
- | 3.5 |
|
B | |
| 30311 | chr6 | 152098785 | T | G |
c.1607T>G
|
p.Leu536Arg
|
4.0 |
|
B | ||
| 31089 | chr6 | 152098787 | T | A |
c.1609T>A
|
p.Tyr537Asn
|
- | 4.0 |
|
B | |
| 297 | chr6 | 152098788 | A | C |
c.1610A>C
|
p.Tyr537Ser
|
- | 4.33 |
|
A | |
| 298 | chr6 | 152098791 | A | G |
c.1613A>G
|
p.Asp538Gly
|
- | 4.33 |
|
A | |
| 13336 | chr6 | 152098830 | C | T |
c.1652C>T
|
p.Ala551Val
|
3.0 |
|
B | ||
| 17295 | chr6 | 152098842 | G | A |
c.1664G>A
|
p.Arg555His
|
3.0 |
|
B | ||
| 4170 | chr6 | 152098932 | CG | C |
c.1759del
|
p.Glu587ArgfsTer20
|
- | 3.0 |
|
B | |
| 20599 | chr6 | 152098955 | GC | G |
c.1779del
|
p.Thr594ArgfsTer13
|
- | 3.0 |
|
B | |
| 18233 | chr6 | 152125274 | C | A |
c.26154-2598G>T
|
-
|
- | 3.0 |
|
B | |
| 4239 | chr6 | 152318862 | C | T |
c.16389+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 5178 | chr6 | 152484912 | G | A |
c.1108C>T
|
p.Gln370Ter
|
- | 3.0 |
|
B | |
| 19970 | chr6 | 152697981 | CT | C |
c.86del
|
p.Phe29SerfsTer28
|
- | 3.0 |
|
B | |
| 18924 | chr6 | 152697989 | C | T |
c.87C>T
|
p.Phe29=
|
3.0 |
|
B | ||
| 31405 | chr6 | 152698065 | A | T |
c.163A>T
|
p.Ser55Cys
|
3.0 |
|
B | ||
| 27644 | chr6 | 152698111 | C | T |
c.196+13C>T
|
-
|
- | 3.0 |
|
B |