Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29356 | chr1 | 115768516 | A | C |
c.26T>G
|
p.Val9Gly
|
- | 3.0 |
|
B | |
| 23552 | chr1 | 116384801 | C | T |
c.142C>T
|
p.Leu48Phe
|
- | 3.0 |
|
B | |
| 10563 | chr1 | 116387484 | ACGATAATGTGAGTTCTGTAATTCAGCATATGGATTTGT | A |
c.381_387+31del
|
p.?
|
- | 3.5 |
|
B | |
| 34127 | chr1 | 116388240 | C | T |
c.497C>T
|
p.Pro166Leu
|
- | 3.0 |
|
B | |
| 4871 | chr1 | 116388631 | T | C |
c.502-7T>C
|
-
|
- | 3.0 |
|
B | |
| 23278 | chr1 | 116388981 | C | T |
c.716C>T
|
p.Thr239Met
|
- | 3.0 |
|
B | |
| 35636 | chr1 | 116389425 | C | T |
c.755-14C>T
|
-
|
- | 3.0 |
|
B | |
| 28399 | chr1 | 116389573 | G | A |
c.889G>A
|
p.Gly297Ser
|
- | 3.0 |
|
B | |
| 16673 | chr1 | 116389643 | C | T |
c.959C>T
|
p.Ala320Val
|
- | 3.0 |
|
B | |
| 9575 | chr1 | 116389679 | T | G |
c.995T>G
|
p.Val332Gly
|
4.5 |
|
B | ||
| 33382 | chr1 | 116390347 | G | A |
c.1158G>A
|
p.Met386Ile
|
- | 3.0 |
|
B | |
| 23935 | chr1 | 116390405 | C | T |
c.1216C>T
|
p.Gln406Ter
|
- | 4.0 |
|
B | |
| 24540 | chr1 | 116390891 | G | A |
c.1332G>A
|
p.Lys444=
|
- | 3.0 |
|
B | |
| 10868 | chr1 | 116393000 | G | A |
c.1467+12G>A
|
-
|
3.0 |
|
B | ||
| 33383 | chr1 | 116395114 | C | A |
c.1665C>A
|
p.Phe555Leu
|
- | 3.0 |
|
B | |
| 9603 | chr1 | 116396653 | T | TG |
c.1895dup
|
p.Ile633HisfsTer7
|
- | 3.5 |
|
B | |
| 8555 | chr1 | 116397943 | C | T |
c.2029C>T
|
p.Gln677Ter
|
- | 3.5 |
|
B | |
| 8554 | chr1 | 116399031 | C | T |
c.2395C>T
|
p.Pro799Ser
|
- | 3.0 |
|
B | |
| 8556 | chr1 | 116399058 | C | G |
c.2422C>G
|
p.Leu808Val
|
- | 3.0 |
|
B | |
| 21848 | chr1 | 116401244 | T | G |
c.2833T>G
|
p.Phe945Val
|
- | 3.0 |
|
B |