Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5633 | chr6 | 26031951 | T | A |
c.110A>T
-
-
|
p.Lys37Ile
-
-
|
3.0 |
|
B | ||
| 21271 | chr6 | 26031953 | C | G |
c.108G>C
-
-
|
p.Val36=
-
-
|
3.0 |
|
B | ||
| 33961 | chr6 | 26031978 | T | A |
c.83A>T
-
-
|
p.Lys28Met
-
-
|
- | 4.0 |
|
B | |
| 3076 | chr6 | 26032079 | C | T |
c.-19G>A
-
-
|
-
-
-
|
3.0 |
|
B | ||
| 7658 | chr6 | 26045426 | C | T |
c.16C>T
-
|
p.Gln6Ter
-
|
3.0 |
|
B | ||
| 18664 | chr6 | 26045484 | C | T |
c.74C>T
-
|
p.Ala25Val
-
|
- | 3.0 |
|
B | |
| 7872 | chr6 | 26045511 | G | T |
c.101G>T
-
|
p.Gly34Val
-
|
- | 3.0 |
|
B | |
| 19594 | chr6 | 26045559 | G | A |
c.149G>A
-
|
p.Arg50His
-
|
- | 3.0 |
|
B | |
| 24844 | chr6 | 26045599 | C | A |
c.189C>A
-
|
p.Ile63=
-
|
- | 3.0 |
|
B | |
| 1023 | chr6 | 26045630 | G | A |
c.220G>A
-
|
p.Glu74Lys
-
|
- | 3.0 |
|
B | |
| 18229 | chr6 | 26045630 | G | T |
c.220G>T
-
|
p.Glu74Ter
-
|
3.0 |
|
B | ||
| 829 | chr6 | 26045725 | C | G |
c.315C>G
-
|
p.Phe105Leu
-
|
3.0 |
|
B | ||
| 24390 | chr6 | 26045810 | G | T |
c.400G>T
-
|
p.Glu134Ter
-
|
- | 3.0 |
|
B | |
| 15626 | chr6 | 26045830 | G | T |
c.*9G>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 24750 | chr6 | 26055790 | TTTC | T |
c.636_638del
|
p.Lys213del
|
3.0 |
|
B | ||
| 2793 | chr6 | 26055817 | C | G |
c.612G>C
|
p.Lys204Asn
|
- | 3.0 |
|
B | |
| 9861 | chr6 | 26055880 | C | G |
c.549G>C
|
p.Lys183Asn
|
- | 3.0 |
|
B | |
| 18230 | chr6 | 26055889 | C | G |
c.540G>C
|
p.Ala180=
|
- | 3.0 |
|
B | |
| 10163 | chr6 | 26055924 | T | C |
c.505A>G
|
p.Lys169Glu
|
3.0 |
|
B | ||
| 17642 | chr6 | 26055930 | T | C |
c.499A>G
|
p.Thr167Ala
|
3.0 |
|
B |