Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9593 | chr11 | 67490060 | A | T |
-
c.491A>T
|
-
p.Gln164Leu
|
- | 3.0 |
|
B | |
| 30755 | chr11 | 67490086 | G | A |
-
c.517G>A
|
-
p.Glu173Lys
|
2.0 |
|
B | ||
| 29336 | chr11 | 67490406 | G | T |
-
c.736G>T
|
-
p.Glu246Ter
|
- | 3.5 |
|
B | |
| 29337 | chr11 | 67490408 | G | C |
-
c.738G>C
|
-
p.Glu246Asp
|
- | 3.0 |
|
B | |
| 13854 | chr11 | 69295371 | G | T |
c.17G>T
|
p.Cys6Phe
|
- | 3.0 |
|
B | |
| 18528 | chr11 | 69295601 | C | A |
c.151C>A
|
p.Leu51Ile
|
- | 3.0 |
|
B | |
| 31284 | chr11 | 69295722 | G | T |
c.272G>T
|
p.Arg91Ile
|
- | 3.0 |
|
B | |
| 30420 | chr11 | 69295808 | G | A |
c.358G>A
|
p.Gly120Arg
|
3.0 |
|
B | ||
| 22201 | chr11 | 69295959 | G | C |
c.509G>C
|
p.Arg170Thr
|
- | 3.0 |
|
B | |
| 34980 | chr11 | 69296034 | T | C |
c.584T>C
|
p.Met195Thr
|
3.0 |
|
B | ||
| 24893 | chr11 | 69296087 | G | A |
c.637G>A
|
p.Gly213Ser
|
3.0 |
|
B | ||
| 24453 | chr11 | 69296121 | C | A |
c.671C>A
|
p.Ser224Ter
|
- | 3.0 |
|
B | |
| 15824 | chr11 | 69296256 | TG | T |
c.813del
|
p.Trp272GlyfsTer66
|
1.5 |
|
B | ||
| 14285 | chr11 | 69296283 | G | A |
c.833G>A
|
p.Arg278Lys
|
3.0 |
|
B | ||
| 22905 | chr11 | 69296311 | C | T |
c.861C>T
|
p.His287=
|
3.0 |
|
B | ||
| 29297 | chr11 | 69296336 | C | T |
c.886C>T
|
p.Pro296Ser
|
- | 3.0 |
|
B | |
| 23585 | chr11 | 69641418 | G | A |
c.105G>A
|
p.Glu35=
|
3.0 |
|
B | ||
| 30860 | chr11 | 69641419 | G | A |
c.106G>A
|
p.Glu36Lys
|
3.0 |
|
B | ||
| 23586 | chr11 | 69641444 | A | C |
c.131A>C
|
p.Tyr44Ser
|
- | 3.0 |
|
B | |
| 23587 | chr11 | 69641451 | A | G |
c.138A>G
|
p.Lys46=
|
- | 3.0 |
|
B |