Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14941 | chr11 | 32396340 | C | T |
c.1181G>A
|
p.Arg394His
|
- | 3.0 |
|
B | |
| 9780 | chr11 | 32396367 | C | T |
c.1154G>A
|
p.Arg385Gln
|
2.0 |
|
B | ||
| 1235 | chr11 | 32400022 | C | T |
c.1039G>A
|
p.Asp347Asn
|
3.0 |
|
B | ||
| 23656 | chr11 | 32416485 | C | A |
c.1016+5G>T
|
-
|
- | 3.0 |
|
B | |
| 17674 | chr11 | 32416544 | G | T |
c.966-4C>A
|
-
|
- | 3.0 |
|
B | |
| 10706 | chr11 | 32416556 | A | G |
c.966-16T>C
|
-
|
- | 3.0 |
|
B | |
| 20904 | chr11 | 32417576 | C | T |
c.965+1G>A
|
p.?
|
4.0 |
|
B | ||
| 17703 | chr11 | 32427989 | C | T |
c.854G>A
|
p.Ser285Asn
|
2.5 |
|
B | ||
| 32765 | chr11 | 32428630 | G | A |
c.662-11C>T
|
-
|
- | 2.0 |
|
B | |
| 28555 | chr11 | 32428637 | A | G |
c.662-18T>C
|
-
|
- | 3.0 |
|
B | |
| 4890 | chr11 | 32430529 | C | T |
c.662-1910G>A
|
-
|
- | 4.0 |
|
B | |
| 13150 | chr11 | 32434750 | G | A |
c.611C>T
|
p.Ala204Val
|
- | 3.0 |
|
B | |
| 7461 | chr11 | 32434910 | A | T |
c.451T>A
|
p.Trp151Arg
|
3.0 |
|
B | ||
| 3194 | chr11 | 32434964 | G | C |
c.397C>G
|
p.Pro133Ala
|
- | 3.0 |
|
B | |
| 17073 | chr11 | 32435072 | AGCC | A |
c.286_288del
|
p.Gly96del
|
3.0 |
|
B | ||
| 2011 | chr11 | 32435179 | C | T |
c.182G>A
|
p.Arg61Gln
|
- | 3.0 |
|
B | |
| 7357 | chr11 | 32435296 | G | T |
c.65C>A
|
p.Thr22Lys
|
- | 3.0 |
|
B | |
| 21277 | chr11 | 32435357 | C | A |
c.4G>T
|
p.Asp2Tyr
|
- | 3.0 |
|
B | |
| 3680 | chr11 | 33583409 | GTCA | G |
c.4490_4492del
|
p.Ile1497del
|
3.0 |
|
B | ||
| 29867 | chr11 | 35292538 | G | A |
c.858-18C>T
|
-
|
- | 2.5 |
|
B |