Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7909 | chr3 | 186048847 | C | T |
c.1325G>A
|
p.Arg442Gln
|
- | 3.0 |
|
B | |
| 9818 | chr3 | 186052052 | T | C |
c.1289A>G
|
p.Tyr430Cys
|
- | 3.0 |
|
B | |
| 22122 | chr3 | 186052061 | C | T |
c.1280G>A
|
p.Arg427His
|
- | 3.0 |
|
B | |
| 4726 | chr3 | 186052062 | G | A |
c.1279C>T
|
p.Arg427Cys
|
- | 3.0 |
|
B | |
| 5844 | chr3 | 186052122 | G | C |
c.1219C>G
|
p.Arg407Gly
|
- | 3.0 |
|
B | |
| 14024 | chr3 | 186057082 | G | A |
c.1202C>T
|
p.Pro401Leu
|
3.0 |
|
B | ||
| 10144 | chr3 | 186057246 | TG | T |
c.1040-3del
|
-
|
- | 3.0 |
|
B | |
| 12088 | chr3 | 186057405 | T | G |
c.1039+18A>C
|
-
|
- | 3.0 |
|
B | |
| 5696 | chr3 | 186065812 | C | A |
c.910+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 1725 | chr3 | 186079853 | T | C |
c.614A>G
|
p.Lys205Arg
|
- | 3.0 |
|
B | |
| 17860 | chr3 | 186079870 | C | A |
c.597G>T
|
p.Gln199His
|
- | 3.0 |
|
B | |
| 33487 | chr3 | 186079920 | C | G |
c.547G>C
|
p.Glu183Gln
|
- | 3.0 |
|
B | |
| 34010 | chr3 | 186081139 | C | A |
c.269G>T
|
p.Arg90Leu
|
3.0 |
|
B | ||
| 35161 | chr3 | 186105697 | C | T |
c.61G>A
|
p.Glu21Lys
|
- | 3.0 |
|
B | |
| 34504 | chr3 | 186253104 | C | T |
c.1589G>A
|
p.Arg530His
|
3.0 |
|
B | ||
| 2612 | chr3 | 186279925 | C | G |
c.718G>C
|
p.Val240Leu
|
- | 3.0 |
|
B | |
| 19981 | chr3 | 186644754 | CA | C |
c.437del
|
p.Lys146ArgfsTer4
|
3.0 |
|
B | ||
| 4482 | chr3 | 186677452 | G | A |
c.1147G>A
|
p.Gly383Arg
|
- | 3.0 |
|
B | |
| 5162 | chr3 | 186727331 | C | T |
c.659C>T
|
p.Ser220Phe
|
- | 3.0 |
|
B | |
| 29372 | chr3 | 186783614 | T | C |
c.4T>C
|
p.Ser2Pro
|
- | 3.0 |
|
B |