Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22000 | chr3 | 77493229 | A | AT |
c.668-5dup
|
-
|
2.0 |
|
B | ||
| 16655 | chr3 | 77493229 | AT | A |
c.668-5del
|
-
|
2.5 |
|
B | ||
| 4823 | chr3 | 77493246 | C | T |
c.670C>T
|
p.Arg224Ter
|
4.0 |
|
B | ||
| 33885 | chr3 | 77522899 | C | T |
c.931C>T
|
p.Arg311Ter
|
4.0 |
|
B | ||
| 24025 | chr3 | 77527406 | G | A |
c.938G>A
|
p.Arg313His
|
3.0 |
|
B | ||
| 30479 | chr3 | 77546358 | C | T |
c.967C>T
|
p.Arg323Trp
|
3.0 |
|
B | ||
| 26794 | chr3 | 77546404 | C | T |
c.1013C>T
|
p.Pro338Leu
|
- | 3.0 |
|
B | |
| 32145 | chr3 | 77546409 | G | C |
c.1018G>C
|
p.Glu340Gln
|
- | 3.0 |
|
B | |
| 22082 | chr3 | 77557990 | C | G |
c.1290C>G
|
p.Asn430Lys
|
- | 3.0 |
|
B | |
| 21299 | chr3 | 77558001 | C | A |
c.1301C>A
|
p.Ala434Glu
|
- | 3.0 |
|
B | |
| 32262 | chr3 | 77558034 | C | A |
c.1334C>A
|
p.Ala445Asp
|
- | 3.0 |
|
B | |
| 27666 | chr3 | 77562746 | G | T |
c.1531+14G>T
|
-
|
- | 3.0 |
|
B | |
| 23573 | chr3 | 77562747 | A | T |
c.1531+15A>T
|
-
|
- | 3.0 |
|
B | |
| 29274 | chr3 | 77563311 | A | G |
c.1676A>G
|
p.Tyr559Cys
|
- | 3.0 |
|
B | |
| 31397 | chr3 | 77565018 | A | G |
c.1759A>G
|
p.Arg587Gly
|
3.0 |
|
B | ||
| 23574 | chr3 | 77565027 | C | T |
c.1768C>T
|
p.Arg590Trp
|
3.0 |
|
B | ||
| 20550 | chr3 | 77565028 | G | C |
c.1769G>C
|
p.Arg590Pro
|
- | 3.0 |
|
B | |
| 21170 | chr3 | 77565048 | T | G |
c.1789T>G
|
p.Phe597Val
|
- | 3.0 |
|
B | |
| 26795 | chr3 | 77568333 | G | A |
c.1882G>A
|
p.Gly628Arg
|
3.0 |
|
B | ||
| 31560 | chr3 | 77574610 | C | T |
c.2095C>T
|
p.Arg699Ter
|
4.0 |
|
B |