Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29568 | chr3 | 134952052 | G | T |
c.805G>T
|
p.Ala269Ser
|
- | 3.0 |
|
B | |
| 2926 | chr3 | 135106503 | C | G |
c.861C>G
|
p.Cys287Trp
|
- | 3.0 |
|
B | |
| 25550 | chr3 | 135106517 | G | A |
c.875G>A
|
p.Arg292His
|
3.0 |
|
B | ||
| 16288 | chr3 | 135106523 | C | G |
c.881C>G
|
p.Pro294Arg
|
- | 3.0 |
|
B | |
| 10355 | chr3 | 135106532 | C | T |
c.890C>T
|
p.Ala297Val
|
3.0 |
|
B | ||
| 28169 | chr3 | 135132716 | G | A |
c.964G>A
|
p.Val322Ile
|
3.0 |
|
B | ||
| 22190 | chr3 | 135132774 | A | T |
c.1022A>T
|
p.Glu341Val
|
- | 3.0 |
|
B | |
| 1682 | chr3 | 135132852 | G | T |
c.1100G>T
|
p.Arg367Leu
|
3.0 |
|
B | ||
| 3881 | chr3 | 135132855 | G | A |
c.1103G>A
|
p.Arg368Gln
|
3.0 |
|
B | ||
| 8637 | chr3 | 135132884 | G | T |
c.1132G>T
|
p.Glu378Ter
|
- | 3.5 |
|
B | |
| 11731 | chr3 | 135132921 | G | A |
c.1169G>A
|
p.Arg390His
|
3.0 |
|
B | ||
| 4591 | chr3 | 135132937 | CCTG | C |
c.1186_1188del
|
p.Leu396del
|
- | 3.0 |
|
B | |
| 22464 | chr3 | 135133061 | G | C |
c.1297+12G>C
|
-
|
- | 3.0 |
|
B | |
| 27942 | chr3 | 135154136 | C | A |
c.1298-16C>A
|
-
|
- | 3.0 |
|
B | |
| 19420 | chr3 | 135154263 | G | A |
c.1409G>A
|
p.Arg470Gln
|
3.0 |
|
B | ||
| 30953 | chr3 | 135162117 | G | A |
c.1522G>A
|
p.Ala508Thr
|
- | 3.0 |
|
B | |
| 1209 | chr3 | 135162158 | G | A |
c.1563G>A
|
p.Met521Ile
|
- | 3.0 |
|
B | |
| 35159 | chr3 | 135166974 | G | T |
c.1727G>T
|
p.Ser576Ile
|
- | 3.0 |
|
B | |
| 17936 | chr3 | 135179923 | G | A |
c.1823G>A
|
p.Arg608Gln
|
3.0 |
|
B | ||
| 5687 | chr3 | 135192590 | G | A |
c.1897G>A
|
p.Val633Met
|
- | 3.0 |
|
B |