Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21084 | chr6 | 30713256 | G | A |
c.686C>T
|
p.Ala229Val
|
- | 3.0 |
|
B | |
| 28483 | chr6 | 30713363 | G | A |
c.588-9C>T
|
-
|
- | 3.0 |
|
B | |
| 34473 | chr6 | 30713374 | G | A |
c.588-20C>T
|
-
|
- | 3.0 |
|
B | |
| 35646 | chr6 | 30713734 | G | A |
c.518-17C>T
|
-
|
- | 3.0 |
|
B | |
| 15497 | chr6 | 30713800 | TA | T |
c.517+2del
|
p.?
|
- | 3.0 |
|
B | |
| 34589 | chr6 | 30713869 | G | A |
c.451C>T
|
p.Pro151Ser
|
- | 3.0 |
|
B | |
| 25622 | chr6 | 30713889 | G | A |
c.431C>T
|
p.Pro144Leu
|
- | 3.0 |
|
B | |
| 6989 | chr6 | 30713979 | C | G |
c.341G>C
|
p.Arg114Pro
|
- | 3.0 |
|
B | |
| 21677 | chr6 | 30715130 | C | A |
c.46G>T
|
p.Glu16Ter
|
- | 3.0 |
|
B | |
| 3947 | chr6 | 30715162 | T | C |
c.14A>G
|
p.Gln5Arg
|
- | 3.0 |
|
B | |
| 4168 | chr6 | 30885819 | T | G |
c.-43+1109T>G
|
-
|
3.0 |
|
B | ||
| 9663 | chr6 | 30888778 | A | G |
c.49A>G
|
p.Ser17Gly
|
2.0 |
|
B | ||
| 4953 | chr6 | 30890961 | C | T |
c.418-12C>T
|
-
|
3.0 |
|
B | ||
| 562 | chr6 | 30891448 | G | A |
c.634G>A
|
p.Asp212Asn
|
3.0 |
|
B | ||
| 15627 | chr6 | 30892006 | C | T |
c.670C>T
|
p.Gln224Ter
|
- | 3.0 |
|
B | |
| 33750 | chr6 | 30892146 | G | A |
c.810G>A
|
p.Met270Ile
|
- | 3.0 |
|
B | |
| 16927 | chr6 | 30892283 | C | T |
c.853-13C>T
|
-
|
3.0 |
|
B | ||
| 30547 | chr6 | 30892383 | G | T |
c.940G>T
|
p.Glu314Ter
|
- | 3.0 |
|
B | |
| 6372 | chr6 | 30892543 | G | T |
c.1099+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 32782 | chr6 | 30893176 | G | C |
c.1195+13G>C
|
-
|
- | 3.0 |
|
B |