Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21004 | chr11 | 532746 | C | T |
-
c.460G>A
|
-
p.Asp154Asn
|
2.5 |
|
B | ||
| 29709 | chr11 | 532749 | C | G |
-
c.457G>C
|
-
p.Glu153Gln
|
- | 3.0 |
|
B | |
| 31821 | chr11 | 533311 | GGGGTCCCAGA | G |
-
c.450+132_450+141del
|
-
-
|
- | 3.0 |
|
B | |
| 22902 | chr11 | 533330 | G | A |
-
c.450+123C>T
|
-
-
|
- | 3.0 |
|
B | |
| 23066 | chr11 | 533367 | A | G |
-
c.450+86T>C
|
-
-
|
- | 3.0 |
|
B | |
| 19082 | chr11 | 533535 | C | T |
-
c.368G>A
|
-
p.Arg123His
|
- | 3.0 |
|
B | |
| 2990 | chr11 | 533782 | C | T |
-
c.274G>A
|
-
p.Asp92Asn
|
3.0 |
|
B | ||
| 31494 | chr11 | 533839 | G | GCATGTACTGGTC |
-
c.205_216dup
|
-
p.Asp69_Met72dup
|
- | 3.5 |
|
B | |
| 34446 | chr11 | 533874 | T | A |
-
c.182A>T
|
-
p.Gln61Leu
|
4.0 |
|
B | ||
| 4081 | chr11 | 533874 | T | C |
-
c.182A>G
|
-
p.Gln61Arg
|
4.0 |
|
B | ||
| 416 | chr11 | 533875 | G | T |
-
c.181C>A
|
-
p.Gln61Lys
|
4.67 |
|
A | ||
| 21158 | chr11 | 533899 | A | G |
-
c.157T>C
|
-
p.Leu53=
|
2.0 |
|
B | ||
| 18318 | chr11 | 533939 | G | A |
-
c.117C>T
|
-
p.Ser39=
|
- | 3.0 |
|
B | |
| 6836 | chr11 | 533946 | T | C |
-
c.112-2A>G
|
-
p.?
|
- | 3.0 |
|
B | |
| 35604 | chr11 | 534201 | G | C |
-
c.111+11C>G
|
-
-
|
- | 3.0 |
|
B | |
| 27898 | chr11 | 534242 | A | G |
-
c.81T>C
|
-
p.His27=
|
1.0 |
|
B | ||
| 417 | chr11 | 534285 | C | T |
-
c.38G>A
|
-
p.Gly13Asp
|
5.0 |
|
B | ||
| 2986 | chr11 | 534286 | C | A |
-
c.37G>T
|
-
p.Gly13Cys
|
4.0 |
|
B | ||
| 418 | chr11 | 534288 | C | A |
-
c.35G>T
|
-
p.Gly12Val
|
4.67 |
|
A | ||
| 23182 | chr11 | 534289 | C | T |
-
c.34G>A
|
-
p.Gly12Ser
|
4.5 |
|
B |