Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7162 | chr2 | 140371282 | G | T |
c.10772C>A
|
p.Ser3591Tyr
|
- | 3.0 |
|
B | |
| 20782 | chr2 | 140373009 | T | A |
c.10767A>T
|
p.Pro3589=
|
- | 3.0 |
|
B | |
| 11296 | chr2 | 140373013 | T | A |
c.10763A>T
|
p.Glu3588Val
|
- | 3.0 |
|
B | |
| 15594 | chr2 | 140373041 | T | A |
c.10735A>T
|
p.Lys3579Ter
|
- | 4.0 |
|
B | |
| 28501 | chr2 | 140378171 | G | T |
c.10638+9C>A
|
-
|
- | 3.0 |
|
B | |
| 128 | chr2 | 140378179 | C | T |
c.10638+1G>A
|
p.?
|
- | 4.33 |
|
A | |
| 26845 | chr2 | 140378283 | G | T |
c.10535C>A
|
p.Pro3512Gln
|
- | 3.0 |
|
B | |
| 14610 | chr2 | 140385877 | G | A |
c.10531+16C>T
|
-
|
- | 3.0 |
|
B | |
| 29437 | chr2 | 140385916 | T | C |
c.10508A>G
|
p.Asp3503Gly
|
- | 3.0 |
|
B | |
| 26057 | chr2 | 140385994 | C | T |
c.10430G>A
|
p.Gly3477Glu
|
- | 3.0 |
|
B | |
| 30419 | chr2 | 140442528 | C | T |
c.10390G>A
|
p.Asp3464Asn
|
- | 3.0 |
|
B | |
| 27938 | chr2 | 140442545 | T | C |
c.10373A>G
|
p.Glu3458Gly
|
- | 3.0 |
|
B | |
| 7208 | chr2 | 140444367 | T | TC |
c.10256_10257insG
|
p.Asp3420ArgfsTer2
|
- | 4.0 |
|
B | |
| 18439 | chr2 | 140444386 | T | G |
c.10238A>C
|
p.Asn3413Thr
|
- | 3.0 |
|
B | |
| 2507 | chr2 | 140444416 | C | A |
c.10208G>T
|
p.Cys3403Phe
|
- | 3.0 |
|
B | |
| 23763 | chr2 | 140444426 | G | A |
c.10198C>T
|
p.Gln3400Ter
|
- | 4.0 |
|
B | |
| 5013 | chr2 | 140444432 | A | G |
c.10192T>C
|
p.Ser3398Pro
|
- | 3.0 |
|
B | |
| 28889 | chr2 | 140444547 | G | A |
c.10174+16C>T
|
-
|
- | 3.0 |
|
B | |
| 4188 | chr2 | 140444578 | C | T |
c.10159G>A
|
p.Asp3387Asn
|
- | 3.0 |
|
B | |
| 27510 | chr2 | 140444596 | C | T |
c.10141G>A
|
p.Asp3381Asn
|
- | 3.0 |
|
B |