Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 294 | chr6 | 35455952 | GGAGCTTCTCCACTGTCTGAAAGATGCCAGA | G |
c.457_486del
|
p.Ala153_Arg162del
|
- | 3.67 |
|
A | |
| 19596 | chr6 | 35456036 | TC | T |
c.544del
|
p.Gln182ArgfsTer114
|
4.0 |
|
B | ||
| 10949 | chr6 | 35456042 | C | T |
c.544C>T
|
p.Gln182Ter
|
4.0 |
|
B | ||
| 18100 | chr6 | 35456276 | A | G |
c.778A>G
|
p.Lys260Glu
|
3.0 |
|
B | ||
| 33870 | chr6 | 35456289 | A | G |
c.791A>G
|
p.Asp264Gly
|
3.0 |
|
B | ||
| 16291 | chr6 | 35457898 | T | G |
c.901-18T>G
|
-
|
3.0 |
|
B | ||
| 11640 | chr6 | 35457915 | G | A |
c.901-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 18232 | chr6 | 35459330 | G | A |
c.1114-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 9616 | chr6 | 35459709 | G | C |
c.1265G>C
|
p.Cys422Ser
|
- | 3.0 |
|
B | |
| 30790 | chr6 | 35459759 | G | A |
c.1315G>A
|
p.Gly439Arg
|
3.0 |
|
B | ||
| 30536 | chr6 | 35459761 | G | T |
c.1316+1G>T
|
p.?
|
4.0 |
|
B | ||
| 25154 | chr6 | 35459778 | C | T |
c.1316+18C>T
|
-
|
2.0 |
|
B | ||
| 32186 | chr6 | 35466286 | C | T |
c.1552C>T
-
|
p.Pro518Ser
-
|
3.0 |
|
B | ||
| 34682 | chr6 | 35597390 | G | A |
c.523C>T
|
p.Arg175Cys
|
3.0 |
|
B | ||
| 3574 | chr6 | 36496738 | G | A |
c.1240C>T
|
p.Pro414Ser
|
- | 3.0 |
|
B | |
| 25811 | chr6 | 36684095 | A | C |
c.-5-2A>C
|
p.?
|
- | 3.5 |
|
B | |
| 9434 | chr6 | 36684098 | C | T |
c.-4C>T
|
-
|
3.5 |
|
B | ||
| 6469 | chr6 | 36684112 | C | T |
c.11C>T
|
p.Pro4Leu
|
1.5 |
|
B | ||
| 13453 | chr6 | 36684183 | G | A |
c.82G>A
|
p.Glu28Lys
|
3.0 |
|
B | ||
| 13973 | chr6 | 36684201 | T | A |
c.100T>A
|
p.Cys34Ser
|
- | 3.0 |
|
B |