Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10461 | chr22 | 29668405 | C | T |
c.958C>T
|
p.Gln320Ter
|
3.5 |
|
B | ||
| 32636 | chr22 | 29668447 | G | T |
c.999+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 7211 | chr22 | 29671823 | C | A |
c.1000-3C>A
|
-
|
- | 3.5 |
|
B | |
| 2939 | chr22 | 29671835 | C | CCG |
c.1009_1010insCG
|
p.Gln337ProfsTer10
|
- | 4.0 |
|
B | |
| 1953 | chr22 | 29671847 | C | T |
c.1021C>T
|
p.Arg341Ter
|
4.5 |
|
B | ||
| 32513 | chr22 | 29671862 | AGGGAGGAGGCTGAACGCAC | A |
c.1038_1056del
|
p.Glu347GlyfsTer11
|
- | 4.0 |
|
B | |
| 35277 | chr22 | 29671893 | T | TG |
c.1069dup
|
p.Glu357GlyfsTer22
|
- | 4.0 |
|
B | |
| 6753 | chr22 | 29671910 | C | T |
c.1084C>T
|
p.Gln362Ter
|
4.0 |
|
B | ||
| 15002 | chr22 | 29671964 | C | T |
c.1122+16C>T
|
-
|
- | 3.0 |
|
B | |
| 1701 | chr22 | 29673302 | G | T |
c.1156G>T
|
p.Glu386Ter
|
- | 4.0 |
|
B | |
| 14364 | chr22 | 29673320 | G | A |
c.1174G>A
|
p.Glu392Lys
|
3.0 |
|
B | ||
| 19129 | chr22 | 29673377 | C | T |
c.1231C>T
|
p.Arg411Cys
|
2.5 |
|
B | ||
| 6121 | chr22 | 29673390 | CAGCGATTCGCACGGAGGAGG | C |
c.1247_1266del
|
p.Ala416GlufsTer20
|
- | 4.0 |
|
B | |
| 7493 | chr22 | 29673407 | G | T |
c.1261G>T
|
p.Glu421Ter
|
- | 4.5 |
|
B | |
| 12067 | chr22 | 29673426 | AG | A |
c.1281del
|
p.Glu427AspfsTer12
|
- | 4.0 |
|
B | |
| 31615 | chr22 | 29673428 | C | T |
c.1282C>T
|
p.Gln428Ter
|
- | 4.5 |
|
B | |
| 8160 | chr22 | 29673473 | G | T |
c.1327G>T
|
p.Glu443Ter
|
- | 4.0 |
|
B | |
| 35427 | chr22 | 29673477 | C | CA |
c.1332dup
|
p.Glu445ArgfsTer50
|
- | 4.0 |
|
B | |
| 6135 | chr22 | 29673477 | C | G |
c.1331C>G
|
p.Ser444Ter
|
- | 4.0 |
|
B | |
| 18260 | chr22 | 29673487 | G | T |
c.1340+1G>T
|
p.?
|
- | 4.5 |
|
B |