Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33936 | chr3 | 52668547 | A | C |
c.335T>G
|
p.Leu112Arg
|
- | 3.0 |
|
B | |
| 28383 | chr3 | 52668612 | C | A |
c.270G>T
|
p.Gln90His
|
- | 3.0 |
|
B | |
| 6706 | chr3 | 52668627 | A | AT |
c.254dup
|
p.Tyr85Ter
|
- | 4.0 |
|
B | |
| 26849 | chr3 | 52678549 | C | A |
c.187G>T
|
p.Glu63Ter
|
- | 4.0 |
|
B | |
| 31716 | chr3 | 52678598 | C | G |
c.139-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 32858 | chr3 | 52686078 | C | T |
-
c.-15C>T
|
-
-
|
- | 3.0 |
|
B | |
| 5160 | chr3 | 52789854 | G | A |
c.2321G>A
-
|
p.Gly774Glu
-
|
3.0 |
|
B | ||
| 4097 | chr3 | 58382510 | A | T |
c.202-4A>T
|
-
|
3.0 |
|
B | ||
| 4644 | chr3 | 62438118 | C | T |
c.3763G>A
|
p.Glu1255Lys
|
- | 3.0 |
|
B | |
| 5380 | chr3 | 67003845 | C | T |
c.878C>T
|
p.Ala293Val
|
- | 3.0 |
|
B | |
| 5774 | chr3 | 67004159 | C | T |
c.1192C>T
|
p.Arg398Cys
|
3.0 |
|
B | ||
| 2611 | chr3 | 69009861 | C | A |
c.-14-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 32679 | chr3 | 69763219 | A | C |
c.104+23518A>C
|
-
|
- | 3.0 |
|
B | |
| 14915 | chr3 | 69879189 | A | G |
c.160A>G
|
p.Thr54Ala
|
- | 3.0 |
|
B | |
| 10565 | chr3 | 69879207 | C | T |
c.178C>T
|
p.Arg60Cys
|
3.0 |
|
B | ||
| 6903 | chr3 | 69879246 | C | T |
c.217C>T
|
p.Arg73Cys
|
3.0 |
|
B | ||
| 8342 | chr3 | 69879247 | G | A |
c.218G>A
|
p.Arg73His
|
3.0 |
|
B | ||
| 14916 | chr3 | 69879274 | C | T |
c.245C>T
|
p.Ala82Val
|
3.0 |
|
B | ||
| 21896 | chr3 | 69879291 | CAG | C |
c.267_268del
|
p.Arg89SerfsTer29
|
- | 3.5 |
|
B | |
| 1672 | chr3 | 69879303 | G | A |
c.274G>A
|
p.Val92Met
|
3.0 |
|
B |