Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18958 | chr7 | 81758806 | T | C |
c.255-2A>G
|
p.?
|
- | 3.0 |
|
B | |
| 29889 | chr7 | 81769949 | G | C |
c.23C>G
|
p.Pro8Arg
|
- | 3.0 |
|
B | |
| 26611 | chr7 | 86644849 | C | T |
c.-164C>T
|
-
|
- | 3.0 |
|
B | |
| 16749 | chr7 | 86765170 | G | A |
c.25G>A
|
p.Val9Ile
|
- | 3.0 |
|
B | |
| 8970 | chr7 | 86765198 | G | A |
c.53G>A
|
p.Gly18Glu
|
- | 3.0 |
|
B | |
| 15937 | chr7 | 86765209 | TC | T |
c.65del
|
p.Ser22PhefsTer2
|
- | 3.0 |
|
B | |
| 23481 | chr7 | 86765239 | G | T |
c.94G>T
|
p.Glu32Ter
|
- | 3.0 |
|
B | |
| 20338 | chr7 | 86765336 | G | A |
c.191G>A
|
p.Arg64Gln
|
3.0 |
|
B | ||
| 17840 | chr7 | 86765347 | C | T |
c.202C>T
|
p.Arg68Cys
|
3.0 |
|
B | ||
| 34474 | chr7 | 86765374 | G | C |
c.229G>C
|
p.Asp77His
|
- | 3.0 |
|
B | |
| 9160 | chr7 | 86765420 | G | A |
c.275G>A
|
p.Gly92Asp
|
- | 3.0 |
|
B | |
| 1874 | chr7 | 86765527 | C | A |
c.382C>A
|
p.Pro128Thr
|
- | 3.0 |
|
B | |
| 25055 | chr7 | 86765527 | C | T |
c.382C>T
|
p.Pro128Ser
|
3.0 |
|
B | ||
| 18013 | chr7 | 86765596 | A | C |
c.451A>C
|
p.Ser151Arg
|
- | 3.0 |
|
B | |
| 33256 | chr7 | 86786276 | C | T |
c.484C>T
|
p.Arg162Trp
|
- | 3.0 |
|
B | |
| 1043 | chr7 | 86786337 | C | T |
c.545C>T
|
p.Ser182Leu
|
- | 3.0 |
|
B | |
| 34267 | chr7 | 86786348 | T | C |
c.556T>C
|
p.Tyr186His
|
- | 3.0 |
|
B | |
| 31169 | chr7 | 86786459 | G | A |
c.667G>A
|
p.Gly223Arg
|
- | 3.0 |
|
B | |
| 8433 | chr7 | 86786460 | G | A |
c.668G>A
|
p.Gly223Glu
|
- | 3.0 |
|
B | |
| 12579 | chr7 | 86786493 | C | A |
c.701C>A
|
p.Ala234Asp
|
- | 3.0 |
|
B |