Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 730 | chr3 | 181712417 | G | A |
c.57G>A
|
p.Gly19=
|
3.0 |
|
B | ||
| 24683 | chr3 | 181712504 | C | A |
c.144C>A
|
p.Phe48Leu
|
- | 3.0 |
|
B | |
| 24817 | chr3 | 181712580 | C | T |
c.220C>T
|
p.Arg74Cys
|
- | 3.0 |
|
B | |
| 25494 | chr3 | 181712651 | G | A |
c.291G>A
|
p.Leu97=
|
- | 3.0 |
|
B | |
| 1407 | chr3 | 181712688 | T | C |
c.328T>C
|
p.Tyr110His
|
- | 3.0 |
|
B | |
| 624 | chr3 | 181712694 | C | T |
c.334C>T
|
p.Pro112Ser
|
- | 3.0 |
|
B | |
| 25125 | chr3 | 181712831 | G | A |
c.471G>A
|
p.Met157Ile
|
- | 3.0 |
|
B | |
| 13395 | chr3 | 181712962 | A | T |
c.602A>T
|
p.Asp201Val
|
- | 3.0 |
|
B | |
| 8982 | chr3 | 181713186 | A | T |
c.826A>T
|
p.Met276Leu
|
- | 3.0 |
|
B | |
| 15801 | chr3 | 181713438 | GA | G |
c.*135del
|
-
|
3.0 |
|
B | ||
| 13679 | chr3 | 182945189 | A | AC |
c.701-17_701-16insG
|
-
|
- | 3.0 |
|
B | |
| 19563 | chr3 | 182961360 | C | T |
c.390-4G>A
|
-
|
3.0 |
|
B | ||
| 13881 | chr3 | 182961361 | G | A |
c.390-5C>T
|
-
|
3.0 |
|
B | ||
| 2657 | chr3 | 182965620 | T | C |
c.137A>G
|
p.Gln46Arg
|
- | 3.0 |
|
B | |
| 27248 | chr3 | 182965720 | G | A |
c.37C>T
|
p.Arg13Cys
|
- | 3.0 |
|
B | |
| 22616 | chr3 | 182965763 | C | T |
c.4-10G>A
|
-
|
3.0 |
|
B | ||
| 24595 | chr3 | 183491955 | C | T |
c.1838G>A
|
p.Arg613Lys
|
- | 3.0 |
|
B | |
| 20306 | chr3 | 183492047 | C | A |
c.1746G>T
|
p.Glu582Asp
|
- | 3.0 |
|
B | |
| 7743 | chr3 | 183492103 | C | T |
c.1690G>A
|
p.Gly564Ser
|
- | 3.0 |
|
B | |
| 7865 | chr3 | 183492204 | G | A |
c.1589C>T
|
p.Ala530Val
|
3.0 |
|
B |