Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15592 | chr22 | 27798546 | AG | A |
c.1997del
|
p.Pro666LeufsTer19
|
- | 3.0 |
|
B | |
| 1636 | chr22 | 27798571 | G | T |
c.1973C>A
|
p.Pro658Gln
|
- | 3.0 |
|
B | |
| 1998 | chr22 | 27798640 | G | A |
c.1904C>T
|
p.Pro635Leu
|
- | 3.0 |
|
B | |
| 3897 | chr22 | 27798644 | C | A |
c.1900G>T
|
p.Gly634Cys
|
- | 3.0 |
|
B | |
| 2026 | chr22 | 27798655 | G | A |
c.1889C>T
|
p.Ala630Val
|
- | 3.0 |
|
B | |
| 28366 | chr22 | 27798728 | C | T |
c.1816G>A
|
p.Glu606Lys
|
3.0 |
|
B | ||
| 22417 | chr22 | 27798764 | G | A |
c.1780C>T
|
p.Pro594Ser
|
- | 3.0 |
|
B | |
| 32774 | chr22 | 27798782 | C | T |
c.1762G>A
|
p.Gly588Ser
|
3.0 |
|
B | ||
| 20187 | chr22 | 27798832 | C | T |
c.1712G>A
|
p.Arg571His
|
3.0 |
|
B | ||
| 7712 | chr22 | 27798945 | TTGC | T |
c.1596_1598del
|
p.Gln550del
|
2.5 |
|
B | ||
| 20631 | chr22 | 27799139 | G | A |
c.1405C>T
|
p.Arg469Cys
|
- | 3.0 |
|
B | |
| 31550 | chr22 | 27799166 | C | T |
c.1378G>A
|
p.Asp460Asn
|
- | 3.0 |
|
B | |
| 12477 | chr22 | 27799187 | C | T |
c.1357G>A
|
p.Val453Met
|
2.5 |
|
B | ||
| 7863 | chr22 | 27799247 | G | C |
c.1297C>G
|
p.Pro433Ala
|
3.0 |
|
B | ||
| 28778 | chr22 | 27799327 | TG | T |
c.1216del
|
p.Gln406AsnfsTer46
|
- | 3.0 |
|
B | |
| 27105 | chr22 | 27799395 | CTG | C |
c.1147_1148del
|
p.Gln383GlyfsTer101
|
- | 3.0 |
|
B | |
| 13696 | chr22 | 27799415 | C | CTCCCTCGGCCCCAGCAGGGCG |
c.1128_1129insCGCCCTGCTGGGGCCGAGGGA
|
p.Pro376_Ala377insArgProAlaGlyAlaGluGly
|
- | 3.0 |
|
B | |
| 3168 | chr22 | 27799438 | A | G |
c.1106T>C
|
p.Val369Ala
|
- | 3.0 |
|
B | |
| 26780 | chr22 | 27799618 | TGCTGCTGCTGCTGCTGGG | T |
c.908_925del
|
p.Pro303_Gln308del
|
3.0 |
|
B | ||
| 15855 | chr22 | 27799845 | G | C |
c.699C>G
|
p.Tyr233Ter
|
- | 3.0 |
|
B |