Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27678 | chr1 | 43603832 | G | T |
c.2680G>T
|
p.Ala894Ser
|
- | 3.0 |
|
B | |
| 12791 | chr1 | 43603865 | G | A |
c.2713G>A
|
p.Glu905Lys
|
3.0 |
|
B | ||
| 17731 | chr1 | 43604889 | C | G |
c.3038-14C>G
|
-
|
3.0 |
|
B | ||
| 13676 | chr1 | 43604927 | C | T |
c.3062C>T
|
p.Ala1021Val
|
3.0 |
|
B | ||
| 24678 | chr1 | 43605461 | C | T |
c.3389+18C>T
|
-
|
3.0 |
|
B | ||
| 35634 | chr1 | 43605526 | C | A |
c.3390-3C>A
|
-
|
3.0 |
|
B | ||
| 21176 | chr1 | 43606364 | A | G |
c.3608A>G
|
p.Lys1203Arg
|
- | 3.0 |
|
B | |
| 13040 | chr1 | 43606843 | T | G |
c.3732T>G
|
p.Asp1244Glu
|
3.0 |
|
B | ||
| 34861 | chr1 | 43609375 | C | G |
c.3858-8C>G
|
-
|
3.0 |
|
B | ||
| 12110 | chr1 | 43609391 | C | T |
c.3866C>T
|
p.Thr1289Ile
|
- | 3.0 |
|
B | |
| 17508 | chr1 | 43609400 | C | T |
c.3875C>T
|
p.Pro1292Leu
|
3.0 |
|
B | ||
| 23418 | chr1 | 43609497 | A | T |
c.3972A>T
|
p.Pro1324=
|
- | 3.0 |
|
B | |
| 11381 | chr1 | 43613702 | C | T |
c.4058C>T
|
p.Ser1353Phe
|
- | 3.0 |
|
B | |
| 12142 | chr1 | 43617544 | C | T |
c.4171C>T
|
p.Arg1391Ter
|
3.0 |
|
B | ||
| 25873 | chr1 | 43617720 | C | G |
c.4196-16C>G
|
-
|
- | 3.0 |
|
B | |
| 13445 | chr1 | 43619066 | C | T |
c.4510C>T
|
p.Arg1504Cys
|
3.0 |
|
B | ||
| 28598 | chr1 | 43619145 | T | C |
c.4589T>C
|
p.Leu1530Pro
|
- | 3.0 |
|
B | |
| 23023 | chr1 | 43619290 | C | T |
c.4649C>T
|
p.Ala1550Val
|
3.0 |
|
B | ||
| 13205 | chr1 | 43620207 | C | T |
c.5224C>T
|
p.Arg1742Trp
|
3.0 |
|
B | ||
| 12553 | chr1 | 43620868 | C | T |
c.5395C>T
|
p.Gln1799Ter
|
- | 3.0 |
|
B |