Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22533 | chr7 | 142864629 | C | A |
c.829C>A
|
p.Gln277Lys
|
- | 3.0 |
|
B | |
| 10238 | chr7 | 142864642 | G | GC |
c.849dup
|
p.Arg284GlnfsTer41
|
3.0 |
|
B | ||
| 943 | chr7 | 142864666 | G | A |
c.866G>A
|
p.Gly289Glu
|
- | 3.0 |
|
B | |
| 2632 | chr7 | 142864756 | G | A |
c.949+7G>A
|
-
|
3.0 |
|
B | ||
| 924 | chr7 | 142865465 | G | T |
c.950-10G>T
|
-
|
- | 3.0 |
|
B | |
| 9558 | chr7 | 142865538 | G | T |
c.1013G>T
|
p.Arg338Leu
|
3.0 |
|
B | ||
| 1822 | chr7 | 142865567 | G | A |
c.1042G>A
|
p.Val348Ile
|
3.0 |
|
B | ||
| 25264 | chr7 | 142866094 | C | T |
c.1240C>T
|
p.Arg414Cys
|
3.0 |
|
B | ||
| 33494 | chr7 | 142866106 | G | T |
c.1252G>T
|
p.Ala418Ser
|
- | 3.0 |
|
B | |
| 23488 | chr7 | 142866125 | C | A |
c.1271C>A
|
p.Thr424Asn
|
- | 3.0 |
|
B | |
| 18024 | chr7 | 142866173 | G | A |
c.1319G>A
|
p.Gly440Asp
|
- | 3.0 |
|
B | |
| 29342 | chr7 | 142866558 | CA | C |
c.1541del
-
|
p.Gln514ArgfsTer26
-
|
- | 3.0 |
|
B | |
| 18882 | chr7 | 142867025 | C | A |
c.1707C>A
-
|
p.His569Gln
-
|
- | 3.0 |
|
B | |
| 5296 | chr7 | 142867608 | G | A |
c.1751G>A
-
|
p.Gly584Glu
-
|
- | 3.0 |
|
B | |
| 17829 | chr7 | 142867736 | C | A |
c.1865+14C>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 20962 | chr7 | 142867991 | C | T |
c.1866-6C>T
-
|
-
-
|
3.0 |
|
B | ||
| 35234 | chr7 | 142868243 | C | T |
c.1921C>T
-
|
p.Leu641Phe
-
|
- | 3.0 |
|
B | |
| 4437 | chr7 | 142868300 | C | T |
c.1978C>T
-
|
p.Arg660Ter
-
|
- | 3.0 |
|
B | |
| 12277 | chr7 | 142868325 | C | T |
c.2003C>T
-
|
p.Pro668Leu
-
|
- | 3.0 |
|
B | |
| 35684 | chr7 | 142868493 | C | T |
c.2040C>T
-
|
p.Gly680=
-
|
- | 3.0 |
|
B |