Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6433 | chr6 | 26090944 | C | G |
c.180C>G
|
p.Phe60Leu
|
- | 3.0 |
|
B | |
| 6470 | chr6 | 26090954 | G | A |
c.190G>A
|
p.Glu64Lys
|
- | 3.0 |
|
B | |
| 27869 | chr6 | 26091415 | T | A |
c.442T>A
|
p.Phe148Ile
|
- | 3.0 |
|
B | |
| 1912 | chr6 | 26091504 | G | A |
c.531G>A
|
p.Arg177=
|
3.0 |
|
B | ||
| 20865 | chr6 | 26091581 | A | G |
c.608A>G
|
p.Asp203Gly
|
- | 3.0 |
|
B | |
| 22308 | chr6 | 26092591 | C | T |
c.617-94C>T
|
-
|
3.0 |
|
B | ||
| 16002 | chr6 | 26092721 | C | G |
c.653C>G
|
p.Ser218Cys
|
- | 3.0 |
|
B | |
| 938 | chr6 | 26092745 | G | A |
c.677G>A
|
p.Arg226Gln
|
2.5 |
|
B | ||
| 11533 | chr6 | 26092810 | G | A |
c.742G>A
|
p.Ala248Thr
|
- | 3.0 |
|
B | |
| 28211 | chr6 | 26092832 | A | G |
c.764A>G
|
p.Asp255Gly
|
- | 3.0 |
|
B | |
| 12721 | chr6 | 26092886 | C | T |
c.818C>T
|
p.Pro273Leu
|
- | 3.0 |
|
B | |
| 6852 | chr6 | 26092961 | G | A |
c.892+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 18394 | chr6 | 26093128 | C | T |
c.902C>T
|
p.Pro301Leu
|
3.0 |
|
B | ||
| 26628 | chr6 | 26093146 | T | C |
c.920T>C
|
p.Ile307Thr
|
3.0 |
|
B | ||
| 6215 | chr6 | 26093230 | C | G |
c.1004C>G
|
p.Ser335Ter
|
- | 3.0 |
|
B | |
| 26603 | chr6 | 26093251 | G | A |
c.1006+19G>A
|
-
|
3.0 |
|
B | ||
| 15995 | chr6 | 26158238 | G | C |
-
c.69G>C
|
-
p.Gln23His
|
- | 3.0 |
|
B | |
| 8421 | chr6 | 26158263 | C | T |
-
c.94C>T
|
-
p.Arg32Cys
|
- | 3.0 |
|
B | |
| 12979 | chr6 | 26158276 | A | T |
-
c.107A>T
|
-
p.Glu36Val
|
- | 3.0 |
|
B | |
| 8826 | chr6 | 26158284 | T | G |
-
c.115T>G
|
-
p.Ser39Ala
|
- | 3.0 |
|
B |