Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30449 | chr3 | 188484675 | C | A |
c.277C>A
|
p.Pro93Thr
|
- | 3.0 |
|
B | |
| 30691 | chr3 | 188484714 | G | C |
c.306+10G>C
|
-
|
- | 3.0 |
|
B | |
| 34576 | chr3 | 188524777 | G | A |
c.419G>A
|
p.Arg140Gln
|
3.0 |
|
B | ||
| 2570 | chr3 | 188609500 | C | T |
c.769C>T
|
p.Pro257Ser
|
- | 3.0 |
|
B | |
| 1267 | chr3 | 188609512 | C | G |
c.781C>G
|
p.Gln261Glu
|
- | 3.0 |
|
B | |
| 25758 | chr3 | 188609683 | G | A |
c.952G>A
|
p.Gly318Ser
|
- | 3.0 |
|
B | |
| 7804 | chr3 | 188708268 | G | A |
c.1115G>A
|
p.Gly372Asp
|
3.0 |
|
B | ||
| 28687 | chr3 | 188708372 | C | T |
c.1219C>T
|
p.Pro407Ser
|
3.0 |
|
B | ||
| 3945 | chr3 | 188708378 | G | T |
c.1225G>T
|
p.Ala409Ser
|
- | 3.0 |
|
B | |
| 18737 | chr3 | 188760100 | CT | C |
c.1241-5del
|
-
|
3.0 |
|
B | ||
| 4593 | chr3 | 188866285 | G | A |
c.1496G>A
|
p.Cys499Tyr
|
3.0 |
|
B | ||
| 24926 | chr3 | 188866309 | G | A |
c.1520G>A
|
p.Arg507His
|
3.0 |
|
B | ||
| 11087 | chr3 | 188866331 | C | A |
c.1542C>A
|
p.Phe514Leu
|
- | 3.0 |
|
B | |
| 19265 | chr3 | 189631534 | C | T |
c.19C>T
|
p.Arg7Trp
|
3.0 |
|
B | ||
| 10885 | chr3 | 189737724 | T | A |
c.63-16T>A
|
-
|
- | 3.0 |
|
B | |
| 10886 | chr3 | 189737730 | T | A |
c.63-10T>A
|
-
|
- | 3.0 |
|
B | |
| 32743 | chr3 | 189737766 | C | T |
c.89C>T
|
p.Ser30Phe
|
- | 3.0 |
|
B | |
| 17861 | chr3 | 189737845 | G | C |
c.168G>C
|
p.Gln56His
|
- | 3.0 |
|
B | |
| 12537 | chr3 | 189738716 | T | C |
c.266T>C
|
p.Ile89Thr
|
- | 3.0 |
|
B | |
| 30594 | chr3 | 189738749 | A | T |
c.299A>T
|
p.Asp100Val
|
- | 3.0 |
|
B |