Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18984 | chr2 | 178683258 | T | C |
c.32840A>G
|
p.Glu10947Gly
|
- | 3.0 |
|
B | |
| 13503 | chr2 | 178684051 | T | A |
c.32754A>T
|
p.Glu10918Asp
|
- | 3.0 |
|
B | |
| 21600 | chr2 | 178684322 | G | A |
c.32722+8C>T
|
-
|
2.0 |
|
B | ||
| 13324 | chr2 | 178684381 | C | T |
c.32671G>A
|
p.Glu10891Lys
|
3.0 |
|
B | ||
| 21601 | chr2 | 178684927 | C | T |
c.32533G>A
|
p.Glu10845Lys
|
3.0 |
|
B | ||
| 19394 | chr2 | 178685261 | G | A |
c.32462C>T
|
p.Pro10821Leu
|
2.0 |
|
B | ||
| 32361 | chr2 | 178685274 | C | T |
c.32449G>A
|
p.Glu10817Lys
|
3.0 |
|
B | ||
| 28167 | chr2 | 178685334 | G | T |
c.32393-4C>A
|
-
|
- | 3.0 |
|
B | |
| 14558 | chr2 | 178685510 | C | A |
c.32392+8G>T
|
-
|
- | 3.0 |
|
B | |
| 26766 | chr2 | 178685523 | G | C |
c.32387C>G
|
p.Ala10796Gly
|
- | 3.0 |
|
B | |
| 13390 | chr2 | 178688113 | T | G |
c.32309A>C
|
p.Glu10770Ala
|
- | 3.0 |
|
B | |
| 29458 | chr2 | 178688138 | C | T |
c.32284G>A
|
p.Glu10762Lys
|
- | 3.0 |
|
B | |
| 12382 | chr2 | 178688173 | A | G |
c.32249T>C
|
p.Ile10750Thr
|
- | 3.0 |
|
B | |
| 30582 | chr2 | 178688243 | C | T |
c.32198-19G>A
|
-
|
- | 3.0 |
|
B | |
| 27773 | chr2 | 178688686 | G | A |
c.32188C>T
|
p.Arg10730Trp
|
3.0 |
|
B | ||
| 35154 | chr2 | 178688796 | A | T |
c.32096-18T>A
|
-
|
- | 3.0 |
|
B | |
| 30470 | chr2 | 178689311 | C | T |
c.31990G>A
|
p.Glu10664Lys
|
3.0 |
|
B | ||
| 18386 | chr2 | 178689317 | C | T |
c.31984G>A
|
p.Glu10662Lys
|
- | 3.0 |
|
B | |
| 27635 | chr2 | 178689318 | C | A |
c.31983G>T
|
p.Lys10661Asn
|
- | 3.0 |
|
B | |
| 18440 | chr2 | 178689392 | A | AT |
c.31928-20dup
|
-
|
- | 3.0 |
|
B |