Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23457 | chr3 | 46373221 | C | A |
c.319C>A
|
p.Leu107Ile
|
- | 3.0 |
|
B | |
| 29739 | chr3 | 46373240 | TC | T |
c.339del
|
p.Ser114LeufsTer9
|
- | 3.0 |
|
B | |
| 16587 | chr3 | 46373449 | C | T |
c.547C>T
|
p.Pro183Ser
|
3.0 |
|
B | ||
| 29691 | chr3 | 46373630 | T | C |
c.728T>C
|
p.Val243Ala
|
3.0 |
|
B | ||
| 17450 | chr3 | 46373651 | C | T |
c.749C>T
|
p.Pro250Leu
|
- | 3.0 |
|
B | |
| 27754 | chr3 | 46373765 | C | T |
c.863C>T
|
p.Thr288Met
|
3.0 |
|
B | ||
| 30589 | chr3 | 46858407 | G | A |
c.536C>T
|
p.Ser179Phe
|
- | 3.0 |
|
B | |
| 15171 | chr3 | 46859649 | C | G |
c.308-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 22514 | chr3 | 46859650 | T | G |
c.308-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 4224 | chr3 | 46859656 | G | A |
c.308-8C>T
|
-
|
- | 3.0 |
|
B | |
| 17854 | chr3 | 46860736 | G | C |
c.247C>G
|
p.Leu83Val
|
- | 3.0 |
|
B | |
| 32364 | chr3 | 46861006 | G | A |
c.130-19C>T
|
-
|
- | 3.0 |
|
B | |
| 26958 | chr3 | 46863307 | C | T |
c.84G>A
|
p.Glu28=
|
- | 3.0 |
|
B | |
| 17248 | chr3 | 46863374 | G | A |
c.17C>T
|
p.Pro6Leu
|
- | 3.0 |
|
B | |
| 3772 | chr3 | 46998552 | C | T |
c.3208C>T
|
p.Arg1070Cys
|
3.0 |
|
B | ||
| 35100 | chr3 | 47017646 | C | G |
c.7525G>C
|
p.Ala2509Pro
|
- | 3.0 |
|
B | |
| 13879 | chr3 | 47017685 | C | T |
c.7486G>A
|
p.Val2496Met
|
- | 3.0 |
|
B | |
| 4388 | chr3 | 47037665 | C | G |
c.7350+1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 31485 | chr3 | 47042578 | G | C |
c.7221C>G
|
p.Tyr2407Ter
|
- | 4.0 |
|
B | |
| 30094 | chr3 | 47042658 | G | A |
c.7141C>T
|
p.Pro2381Ser
|
- | 3.0 |
|
B |