Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21121 | chr11 | 108293416 | A | C |
c.4715A>C
|
p.Lys1572Thr
|
- | 3.0 |
|
B | |
| 21041 | chr11 | 108294976 | C | G |
c.4826C>G
|
p.Thr1609Arg
|
3.0 |
|
B | ||
| 4876 | chr11 | 108295003 | G | T |
c.4853G>T
|
p.Arg1618Leu
|
3.0 |
|
B | ||
| 6334 | chr11 | 108295034 | G | T |
c.4884G>T
|
p.Met1628Ile
|
3.0 |
|
B | ||
| 28490 | chr11 | 108295056 | C | T |
c.4906C>T
|
p.Gln1636Ter
|
5.0 |
|
B | ||
| 2813 | chr11 | 108297265 | ATTTTTAAAAAATTAT | A |
c.4910-19_4910-5del
|
-
|
- | 3.0 |
|
B | |
| 6636 | chr11 | 108299729 | G | A |
c.5021G>A
|
p.Cys1674Tyr
|
3.0 |
|
B | ||
| 19710 | chr11 | 108299768 | C | A |
c.5060C>A
|
p.Ala1687Asp
|
- | 3.0 |
|
B | |
| 19083 | chr11 | 108301637 | G | GT |
c.5178-4dup
|
-
|
2.0 |
|
B | ||
| 435 | chr11 | 108301658 | C | T |
c.5188C>T
|
p.Arg1730Ter
|
5.0 |
|
A | ||
| 29389 | chr11 | 108301750 | G | T |
c.5280G>T
|
p.Met1760Ile
|
- | 3.0 |
|
B | |
| 3579 | chr11 | 108302866 | C | T |
c.5333C>T
|
p.Pro1778Leu
|
3.0 |
|
B | ||
| 8649 | chr11 | 108302940 | G | A |
c.5407G>A
|
p.Asp1803Asn
|
- | 3.0 |
|
B | |
| 11495 | chr11 | 108302941 | A | T |
c.5408A>T
|
p.Asp1803Val
|
- | 3.0 |
|
B | |
| 11364 | chr11 | 108304677 | GA | G |
c.5503del
|
p.Thr1835LeufsTer11
|
4.0 |
|
B | ||
| 12036 | chr11 | 108304782 | A | AT |
c.5609dup
|
p.Thr1871HisfsTer33
|
4.0 |
|
B | ||
| 29130 | chr11 | 108304822 | C | T |
c.5644C>T
|
p.Arg1882Ter
|
4.5 |
|
B | ||
| 26410 | chr11 | 108307900 | CAG | C |
c.5681_5682del
|
p.Glu1894AlafsTer9
|
4.0 |
|
B | ||
| 2952 | chr11 | 108307915 | G | C |
c.5693G>C
|
p.Arg1898Pro
|
- | 3.0 |
|
B | |
| 9306 | chr11 | 108307962 | G | T |
c.5740G>T
|
p.Asp1914Tyr
|
- | 3.0 |
|
B |