Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33077 | chr20 | 42780315 | C | T |
c.487-16G>A
|
-
|
3.0 |
|
B | ||
| 3071 | chr20 | 42791263 | C | T |
c.418G>A
|
p.Gly140Arg
|
3.0 |
|
B | ||
| 13309 | chr20 | 42791269 | C | G |
c.412G>C
|
p.Val138Leu
|
- | 3.0 |
|
B | |
| 4329 | chr20 | 42791352 | G | A |
c.329C>T
|
p.Ser110Phe
|
- | 3.0 |
|
B | |
| 12776 | chr20 | 42791403 | G | A |
c.278C>T
|
p.Pro93Leu
|
- | 3.0 |
|
B | |
| 1263 | chr20 | 42791403 | GGCAGGAGAAGGTGGGCCTTCTGGCCAGAGGCTCTCCCAGA | G |
c.238_277del
|
p.Ser80GlnfsTer3
|
- | 4.0 |
|
B | |
| 35545 | chr20 | 42791440 | C | A |
c.241G>T
|
p.Gly81Trp
|
- | 3.0 |
|
B | |
| 7093 | chr20 | 42791442 | G | A |
c.239C>T
|
p.Ser80Phe
|
- | 3.0 |
|
B | |
| 2403 | chr20 | 42791472 | G | A |
c.215-6C>T
|
-
|
3.0 |
|
B | ||
| 6876 | chr20 | 42885933 | C | T |
c.89-1G>A
|
p.?
|
- | 4.5 |
|
B | |
| 28472 | chr20 | 42885947 | G | A |
c.89-15C>T
|
-
|
3.0 |
|
B | ||
| 4786 | chr20 | 43513991 | C | T |
c.290C>T
|
p.Ser97Phe
|
- | 3.0 |
|
B | |
| 34521 | chr20 | 43584985 | C | A |
c.1073C>A
|
p.Ala358Glu
|
- | 3.0 |
|
B | |
| 4787 | chr20 | 44746104 | T | A |
c.194T>A
|
p.Leu65Gln
|
- | 3.0 |
|
B | |
| 5751 | chr20 | 45208073 | A | G |
c.776A>G
|
p.Glu259Gly
|
- | 3.0 |
|
B | |
| 31475 | chr20 | 45909929 | G | T |
c.329+13C>A
|
-
|
- | 3.0 |
|
B | |
| 27373 | chr20 | 46118359 | C | G |
c.16C>G
|
p.Leu6Val
|
- | 3.0 |
|
B | |
| 16934 | chr20 | 46122352 | G | A |
c.250G>A
|
p.Asp84Asn
|
3.0 |
|
B | ||
| 31225 | chr20 | 46122615 | G | A |
c.262G>A
|
p.Gly88Arg
|
- | 3.0 |
|
B | |
| 16407 | chr20 | 46122683 | C | A |
c.330C>A
|
p.His110Gln
|
- | 3.0 |
|
B |