Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2178 | chr3 | 89107770 | C | A |
c.22C>A
|
p.Leu8Ile
|
- | 3.0 |
|
B | |
| 33720 | chr3 | 89107783 | G | C |
c.35G>C
|
p.Ser12Thr
|
- | 3.0 |
|
B | |
| 9860 | chr3 | 89107797 | G | C |
c.49G>C
|
p.Asp17His
|
3.0 |
|
B | ||
| 5952 | chr3 | 89127220 | G | T |
c.100G>T
|
p.Asp34Tyr
|
- | 3.0 |
|
B | |
| 23147 | chr3 | 89127271 | G | A |
c.151G>A
|
p.Gly51Arg
|
3.0 |
|
B | ||
| 2770 | chr3 | 89127271 | G | T |
c.151G>T
|
p.Gly51Trp
|
- | 3.0 |
|
B | |
| 7150 | chr3 | 89210006 | G | T |
c.300G>T
|
p.Lys100Asn
|
3.0 |
|
B | ||
| 6043 | chr3 | 89210103 | G | A |
c.397G>A
|
p.Val133Met
|
- | 3.0 |
|
B | |
| 18080 | chr3 | 89210171 | G | A |
c.465G>A
|
p.Met155Ile
|
- | 3.0 |
|
B | |
| 8498 | chr3 | 89210181 | G | A |
c.475G>A
|
p.Asp159Asn
|
- | 3.0 |
|
B | |
| 33087 | chr3 | 89210184 | C | T |
c.478C>T
|
p.Arg160Cys
|
3.0 |
|
B | ||
| 2080 | chr3 | 89210274 | G | GT |
c.570dup
|
p.Ala191CysfsTer37
|
- | 3.5 |
|
B | |
| 6154 | chr3 | 89210326 | A | C |
c.620A>C
|
p.Lys207Thr
|
- | 3.0 |
|
B | |
| 6275 | chr3 | 89210331 | C | G |
c.625C>G
|
p.Leu209Val
|
- | 3.0 |
|
B | |
| 2782 | chr3 | 89210386 | G | A |
c.680G>A
|
p.Arg227Lys
|
- | 3.0 |
|
B | |
| 23728 | chr3 | 89210407 | C | T |
c.701C>T
|
p.Ser234Phe
|
- | 3.0 |
|
B | |
| 17604 | chr3 | 89210522 | T | C |
c.814+2T>C
|
p.?
|
- | 4.0 |
|
B | |
| 33625 | chr3 | 89340934 | A | G |
c.833A>G
|
p.Tyr278Cys
|
- | 3.0 |
|
B | |
| 9776 | chr3 | 89340970 | G | T |
c.869G>T
|
p.Cys290Phe
|
- | 3.0 |
|
B | |
| 12967 | chr3 | 89340978 | C | T |
c.877C>T
|
p.His293Tyr
|
- | 3.0 |
|
B |