Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22667 | chr1 | 151234490 | CTGTT | C |
c.936_939del
|
p.Cys312TrpfsTer8
|
- | 3.0 |
|
B | |
| 7337 | chr1 | 151236651 | C | G |
c.1033C>G
|
p.Gln345Glu
|
- | 3.0 |
|
B | |
| 34407 | chr1 | 151236712 | A | T |
c.1094A>T
|
p.Glu365Val
|
- | 3.0 |
|
B | |
| 531 | chr1 | 151239153 | C | G |
c.1253C>G
|
p.Ser418Cys
|
- | 3.0 |
|
B | |
| 12871 | chr1 | 151240037 | C | T |
c.1361C>T
|
p.Pro454Leu
|
- | 3.0 |
|
B | |
| 8135 | chr1 | 151242116 | T | G |
c.1364-7T>G
|
-
|
- | 3.0 |
|
B | |
| 23913 | chr1 | 151242275 | C | T |
c.1510+6C>T
|
-
|
3.0 |
|
B | ||
| 28067 | chr1 | 151242467 | C | T |
c.1540C>T
|
p.Pro514Ser
|
- | 3.0 |
|
B | |
| 11382 | chr1 | 151242504 | C | T |
c.1577C>T
|
p.Ser526Leu
|
3.0 |
|
B | ||
| 4458 | chr1 | 151242519 | C | T |
c.1592C>T
|
p.Pro531Leu
|
3.0 |
|
B | ||
| 21082 | chr1 | 151246946 | C | T |
c.1667C>T
|
p.Ala556Val
|
- | 3.0 |
|
B | |
| 12899 | chr1 | 151246985 | G | A |
c.1686+20G>A
|
-
|
- | 3.0 |
|
B | |
| 13018 | chr1 | 152085011 | C | T |
c.2671G>A
|
p.Glu891Lys
|
- | 3.0 |
|
B | |
| 24007 | chr1 | 152085032 | T | A |
c.2650A>T
|
p.Lys884Ter
|
- | 3.0 |
|
B | |
| 18052 | chr1 | 152085050 | G | A |
c.2632C>T
|
p.Pro878Ser
|
- | 3.0 |
|
B | |
| 15326 | chr1 | 152085077 | G | A |
c.2605C>T
|
p.Pro869Ser
|
- | 3.0 |
|
B | |
| 694 | chr1 | 152085226 | T | C |
c.2456A>G
|
p.Glu819Gly
|
3.0 |
|
B | ||
| 17754 | chr1 | 152085227 | C | T |
c.2455G>A
|
p.Glu819Lys
|
3.0 |
|
B | ||
| 1257 | chr1 | 152085235 | G | A |
c.2447C>T
|
p.Thr816Ile
|
3.0 |
|
B | ||
| 6291 | chr1 | 152085269 | G | C |
c.2413C>G
|
p.Leu805Val
|
- | 3.0 |
|
B |