Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5129 | chr11 | 61445994 | G | C |
c.424G>C
|
p.Asp142His
|
- | 3.0 |
|
B | |
| 422 | chr11 | 61446070 | G | C |
c.500G>C
|
p.Ter167SerextTer22
|
- | 3.0 |
|
B | |
| 4084 | chr11 | 61546205 | A | C |
c.398T>G
|
p.Val133Gly
|
3.0 |
|
B | ||
| 4518 | chr11 | 62520645 | G | A |
c.13772C>T
|
p.Pro4591Leu
|
3.0 |
|
B | ||
| 4519 | chr11 | 62520646 | G | A |
c.13771C>T
|
p.Pro4591Ser
|
- | 3.0 |
|
B | |
| 3316 | chr11 | 62726973 | G | A |
c.184C>T
-
|
p.Arg62Trp
-
|
3.0 |
|
B | ||
| 4101 | chr11 | 62792648 | T | G |
c.1814A>C
-
-
|
p.His605Pro
-
-
|
3.0 |
|
B | ||
| 5273 | chr11 | 62882056 | TA | T |
c.596del
|
p.Lys199ArgfsTer31
|
3.0 |
|
B | ||
| 8627 | chr11 | 63382198 | CA | C |
c.1005del
|
p.Lys335AsnfsTer67
|
3.0 |
|
B | ||
| 20059 | chr11 | 63382198 | CAA | C |
c.1004_1005del
|
p.Lys335ThrfsTer5
|
3.0 |
|
B | ||
| 3681 | chr11 | 63763458 | C | CGTGA |
-
c.1996_1997insTCAC
|
-
p.Gly666ValfsTer18
|
- | 3.0 |
|
B | |
| 3682 | chr11 | 63763460 | GTCAC | G |
-
c.1991_1994del
|
-
p.Arg664ProfsTer82
|
- | 3.0 |
|
B | |
| 3683 | chr11 | 63764908 | GC | G |
c.983del
|
p.Gly328AlafsTer23
|
3.0 |
|
B | ||
| 32111 | chr11 | 64235926 | G | A |
-
c.217G>A
|
-
p.Val73Met
|
3.0 |
|
B | ||
| 27980 | chr11 | 64235948 | G | A |
-
c.239G>A
|
-
p.Gly80Asp
|
- | 3.0 |
|
B | |
| 17030 | chr11 | 64237176 | T | G |
-
c.375-11T>G
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 13475 | chr11 | 64237190 | TA | T |
-
c.386del
-
|
-
p.Lys129ArgfsTer5
-
|
3.0 |
|
B | ||
| 35083 | chr11 | 64237510 | T | A |
-
c.501T>A
-
|
-
p.His167Gln
-
|
- | 3.0 |
|
B | |
| 31434 | chr11 | 64359262 | C | T |
-
c.27C>T
|
-
p.Ser9=
|
- | 3.0 |
|
B | |
| 22500 | chr11 | 64359396 | A | T |
-
c.74A>T
|
-
p.Glu25Val
|
- | 3.0 |
|
B |