Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20640 | chr10 | 87933154 | G | C |
c.395G>C
|
p.Gly132Ala
|
- | 4.0 |
|
B | |
| 25277 | chr10 | 87933156 | GT | G |
c.398del
|
p.Val133GlufsTer2
|
- | 4.0 |
|
B | |
| 20964 | chr10 | 87933161 | G | A |
c.402G>A
|
p.Met134Ile
|
- | 3.5 |
|
B | |
| 32399 | chr10 | 87933165 | T | C |
c.406T>C
|
p.Cys136Arg
|
4.0 |
|
B | ||
| 1292 | chr10 | 87933166 | G | A |
c.407G>A
|
p.Cys136Tyr
|
3.5 |
|
B | ||
| 1316 | chr10 | 87933166 | G | T |
c.407G>T
|
p.Cys136Phe
|
- | 3.5 |
|
B | |
| 5576 | chr10 | 87933166 | GT | G |
c.408del
|
p.Cys136TrpfsTer11
|
- | 4.0 |
|
B | |
| 17968 | chr10 | 87933183 | C | T |
c.424C>T
|
p.Arg142Trp
|
3.0 |
|
B | ||
| 23897 | chr10 | 87933189 | A | T |
c.430A>T
|
p.Lys144Ter
|
4.5 |
|
B | ||
| 1659 | chr10 | 87933196 | TA | T |
c.440del
|
p.Lys147ArgfsTer6
|
- | 4.0 |
|
B | |
| 35135 | chr10 | 87933202 | C | A |
c.443C>A
|
p.Ala148Glu
|
- | 3.0 |
|
B | |
| 385 | chr10 | 87933204 | C | T |
c.445C>T
|
p.Gln149Ter
|
4.67 |
|
A | ||
| 34365 | chr10 | 87933214 | T | A |
c.455T>A
|
p.Leu152Gln
|
- | 3.0 |
|
B | |
| 29750 | chr10 | 87933219 | T | G |
c.460T>G
|
p.Phe154Val
|
- | 3.0 |
|
B | |
| 386 | chr10 | 87933223 | A | G |
c.464A>G
|
p.Tyr155Cys
|
4.33 |
|
A | ||
| 29229 | chr10 | 87933224 | T | TG |
c.469dup
|
p.Glu157GlyfsTer23
|
5.0 |
|
B | ||
| 2946 | chr10 | 87933225 | G | A |
c.466G>A
|
p.Gly156Arg
|
3.0 |
|
B | ||
| 27931 | chr10 | 87933226 | G | T |
c.467G>T
|
p.Gly156Val
|
- | 3.0 |
|
B | |
| 22177 | chr10 | 87933235 | G | A |
c.476G>A
|
p.Arg159Lys
|
4.0 |
|
B | ||
| 8331 | chr10 | 87933236 | G | T |
c.477G>T
|
p.Arg159Ser
|
3.5 |
|
B |