Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24625 | chr17 | 7675161 | G | A |
c.451C>T
|
p.Pro151Ser
|
4.0 |
|
B | ||
| 8917 | chr17 | 7675161 | G | C |
c.451C>G
|
p.Pro151Ala
|
4.0 |
|
B | ||
| 5915 | chr17 | 7675161 | G | T |
c.451C>A
|
p.Pro151Thr
|
3.5 |
|
B | ||
| 29204 | chr17 | 7675166 | G | A |
c.446C>T
|
p.Ser149Phe
|
3.0 |
|
B | ||
| 33591 | chr17 | 7675166 | GA | G |
c.445del
|
p.Ser149ProfsTer21
|
5.0 |
|
B | ||
| 24256 | chr17 | 7675169 | T | C |
c.443A>G
|
p.Asp148Gly
|
- | 3.0 |
|
B | |
| 1438 | chr17 | 7675174 | C | T |
c.438G>A
|
p.Trp146Ter
|
4.5 |
|
B | ||
| 33604 | chr17 | 7675175 | C | CA |
c.436dup
|
p.Trp146LeufsTer3
|
- | 4.0 |
|
B | |
| 22560 | chr17 | 7675175 | C | T |
c.437G>A
|
p.Trp146Ter
|
4.5 |
|
B | ||
| 34140 | chr17 | 7675176 | A | C |
c.436T>G
|
p.Trp146Gly
|
3.5 |
|
B | ||
| 1279 | chr17 | 7675177 | C | CAG |
c.433_434dup
|
p.Trp146CysfsTer25
|
- | 4.0 |
|
B | |
| 27003 | chr17 | 7675178 | A | G |
c.434T>C
|
p.Leu145Pro
|
3.5 |
|
B | ||
| 16302 | chr17 | 7675182 | G | A |
c.430C>T
|
p.Gln144Ter
|
4.5 |
|
B | ||
| 22053 | chr17 | 7675184 | A | T |
c.428T>A
|
p.Val143Glu
|
- | 3.5 |
|
B | |
| 1298 | chr17 | 7675185 | C | T |
c.427G>A
|
p.Val143Met
|
3.0 |
|
B | ||
| 16827 | chr17 | 7675188 | G | A |
c.424C>T
|
p.Pro142Ser
|
3.5 |
|
B | ||
| 11774 | chr17 | 7675190 | C | T |
c.422G>A
|
p.Cys141Tyr
|
3.5 |
|
B | ||
| 3056 | chr17 | 7675199 | G | A |
c.413C>T
|
p.Ala138Val
|
3.5 |
|
B | ||
| 25528 | chr17 | 7675205 | T | G |
c.407A>C
|
p.Gln136Pro
|
3.5 |
|
B | ||
| 1424 | chr17 | 7675206 | G | A |
c.406C>T
|
p.Gln136Ter
|
- | 4.5 |
|
B |