Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22009 | chr13 | 26681214 | G | C |
c.877G>C
|
p.Ala293Pro
|
- | 3.0 |
|
B | |
| 22010 | chr13 | 26681222 | C | G |
c.885C>G
|
p.His295Gln
|
3.0 |
|
B | ||
| 19888 | chr13 | 26681249 | G | GC |
c.920dup
|
p.Pro308AlafsTer29
|
3.0 |
|
B | ||
| 20447 | chr13 | 26681249 | G | GCC |
c.919_920dup
|
p.Pro308ArgfsTer28
|
3.0 |
|
B | ||
| 22808 | chr13 | 26681249 | GC | G |
c.920del
|
p.Pro307ArgfsTer28
|
3.0 |
|
B | ||
| 2959 | chr13 | 26681250 | C | T |
c.913C>T
|
p.Pro305Ser
|
3.0 |
|
B | ||
| 34086 | chr13 | 26681257 | C | T |
c.920C>T
|
p.Pro307Leu
|
3.0 |
|
B | ||
| 23759 | chr13 | 26682660 | C | T |
c.1037C>T
|
p.Pro346Leu
|
3.0 |
|
B | ||
| 6743 | chr13 | 26682744 | C | G |
c.1121C>G
|
p.Ser374Ter
|
- | 3.0 |
|
B | |
| 17926 | chr13 | 26682824 | C | T |
c.1201C>T
|
p.Pro401Ser
|
- | 3.0 |
|
B | |
| 13344 | chr13 | 26682903 | C | T |
c.1280C>T
|
p.Ala427Val
|
3.0 |
|
B | ||
| 14686 | chr13 | 26682968 | C | T |
c.1345C>T
|
p.Arg449Ter
|
3.0 |
|
B | ||
| 24162 | chr13 | 26685756 | G | A |
c.1420G>A
|
p.Val474Met
|
- | 3.0 |
|
B | |
| 17804 | chr13 | 26685825 | G | A |
c.1489G>A
|
p.Glu497Lys
|
3.0 |
|
B | ||
| 4983 | chr13 | 26685838 | C | T |
c.1502C>T
|
p.Ser501Phe
|
- | 3.0 |
|
B | |
| 4292 | chr13 | 27562438 | G | A |
c.1199C>T
|
p.Pro400Leu
|
3.0 |
|
B | ||
| 27724 | chr13 | 27963126 | C | T |
c.931G>A
|
p.Val311Ile
|
3.0 |
|
B | ||
| 19731 | chr13 | 27963140 | AC | A |
c.916del
|
p.Val306CysfsTer2
|
4.0 |
|
B | ||
| 22924 | chr13 | 27963144 | C | T |
c.913G>A
|
p.Gly305Arg
|
3.0 |
|
B | ||
| 13764 | chr13 | 27963147 | C | A |
c.910G>T
|
p.Gly304Trp
|
3.0 |
|
B |