Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1723 | chr3 | 52406901 | C | CA |
c.586dup
-
|
p.Trp196LeufsTer47
-
|
4.0 |
|
B | ||
| 177 | chr3 | 52406901 | C | T |
c.587G>A
-
|
p.Trp196Ter
-
|
4.67 |
|
A | ||
| 11916 | chr3 | 52406903 | GGGCCCTAGTGGAGACCAA | G |
c.581-14_584del
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 25138 | chr3 | 52406907 | C | T |
c.581G>A
-
|
p.Gly194Glu
-
|
- | 4.0 |
|
B | |
| 2343 | chr3 | 52406909 | T | C |
c.581-2A>G
-
|
p.?
-
|
4.0 |
|
B | ||
| 34695 | chr3 | 52407143 | ACCCAACAGGCCT | A |
c.580+19_580+30del
-
|
-
-
|
- | 3.0 |
|
B | |
| 2779 | chr3 | 52407155 | TCCAGCTCATGGTGCCTAC | T |
c.580+1_580+18del
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 29843 | chr3 | 52407156 | C | T |
c.580+18G>A
-
|
-
-
|
- | 2.0 |
|
B | |
| 31800 | chr3 | 52407159 | G | A |
c.580+15C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 34696 | chr3 | 52407160 | CTCATGGTGCCTACCATGG | C |
c.576_580+13del
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 34937 | chr3 | 52407173 | C | T |
c.580+1G>A
-
|
p.?
-
|
4.5 |
|
B | ||
| 9756 | chr3 | 52407197 | AGCCCAT | A |
c.551_556del
-
|
p.Asp184_Leu186delinsVal
-
|
- | 3.0 |
|
B | |
| 9905 | chr3 | 52407208 | C | A |
c.546G>T
-
|
p.Glu182Asp
-
|
- | 3.0 |
|
B | |
| 29329 | chr3 | 52407219 | G | A |
c.535C>T
-
|
p.Arg179Trp
-
|
4.0 |
|
B | ||
| 10494 | chr3 | 52407245 | A | C |
c.509T>G
-
|
p.Phe170Cys
-
|
- | 3.0 |
|
B | |
| 11652 | chr3 | 52407245 | A | G |
c.509T>C
-
|
p.Phe170Ser
-
|
- | 3.5 |
|
B | |
| 28792 | chr3 | 52407252 | A | C |
c.502T>G
-
|
p.Phe168Val
-
|
- | 3.0 |
|
B | |
| 35502 | chr3 | 52407288 | GC | G |
c.465del
-
|
p.Lys155AsnfsTer32
-
|
- | 4.0 |
|
B | |
| 19045 | chr3 | 52407310 | C | A |
c.444G>T
-
|
p.Glu148Asp
-
|
- | 3.0 |
|
B | |
| 25988 | chr3 | 52407330 | G | C |
c.438-14C>G
-
|
-
-
|
- | 3.0 |
|
B |