Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25431 | chr11 | 75566684 | GCGAGCTGCTGCGCTCACTCAGCAACTCCACGGCGCGCAACGTGACCTGGAAGCTGGGCAGC | G |
c.339_399del
|
p.Glu113AspfsTer8
|
- | 3.5 |
|
B | |
| 648 | chr11 | 76451890 | C | T |
c.103C>T
|
p.Leu35Phe
|
3.0 |
|
B | ||
| 29182 | chr11 | 76451917 | G | A |
c.130G>A
|
p.Glu44Lys
|
- | 3.0 |
|
B | |
| 25554 | chr11 | 76453328 | G | A |
c.185G>A
|
p.Arg62His
|
- | 3.0 |
|
B | |
| 19170 | chr11 | 76453367 | G | A |
c.224G>A
|
p.Arg75Gln
|
3.0 |
|
B | ||
| 28581 | chr11 | 76458181 | A | C |
c.288-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 11997 | chr11 | 76458226 | C | T |
c.331C>T
|
p.Arg111Cys
|
3.0 |
|
B | ||
| 15945 | chr11 | 76459923 | G | A |
c.464-10G>A
|
-
|
3.0 |
|
B | ||
| 2646 | chr11 | 76460044 | A | G |
c.575A>G
|
p.Asn192Ser
|
3.0 |
|
B | ||
| 13792 | chr11 | 76460101 | A | C |
c.616+16A>C
|
-
|
- | 3.0 |
|
B | |
| 25267 | chr11 | 76472557 | T | C |
c.877-7T>C
|
-
|
- | 3.0 |
|
B | |
| 13120 | chr11 | 76472858 | A | G |
c.1153+18A>G
|
-
|
3.0 |
|
B | ||
| 18138 | chr11 | 76513529 | C | T |
c.1552C>T
|
p.Pro518Ser
|
3.0 |
|
B | ||
| 22051 | chr11 | 76516258 | C | A |
c.1675C>A
|
p.Pro559Thr
|
- | 3.0 |
|
B | |
| 3552 | chr11 | 76523258 | C | CA |
c.1838dup
|
p.Asn613LysfsTer53
|
- | 3.5 |
|
B | |
| 12027 | chr11 | 76537780 | G | A |
c.2405-15G>A
|
-
|
- | 3.0 |
|
B | |
| 12502 | chr11 | 76542378 | T | G |
c.2754+11T>G
|
-
|
- | 3.0 |
|
B | |
| 11693 | chr11 | 76544319 | G | A |
c.2815G>A
|
p.Glu939Lys
|
3.0 |
|
B | ||
| 31781 | chr11 | 76544531 | G | A |
c.3027G>A
|
p.Met1009Ile
|
- | 3.0 |
|
B | |
| 8938 | chr11 | 76544546 | C | G |
c.3042C>G
|
p.Ile1014Met
|
- | 3.0 |
|
B |