Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5750 | chr19 | 53050086 | C | G |
c.835C>G
|
p.Pro279Ala
|
1.5 |
|
B | ||
| 2700 | chr19 | 53259367 | C | T |
-
c.992C>T
|
-
p.Ser331Phe
|
3.0 |
|
B | ||
| 4780 | chr19 | 53992883 | G | A |
-
c.6G>A
|
-
p.Met2Ile
|
- | 3.0 |
|
B | |
| 24949 | chr19 | 54108054 | G | A |
c.614C>T
-
|
p.Ala205Val
-
|
3.0 |
|
B | ||
| 32843 | chr19 | 54114437 | C | T |
-
c.282+5G>A
|
-
-
|
- | 3.0 |
|
B | |
| 15387 | chr19 | 54114540 | C | T |
-
c.184G>A
|
-
p.Glu62Lys
|
- | 3.0 |
|
B | |
| 3585 | chr19 | 54145930 | TC | T |
c.732del
|
p.Ser245AlafsTer90
|
4.0 |
|
B | ||
| 3461 | chr19 | 54279649 | T | C |
c.356-2A>G
|
p.?
|
- | 3.0 |
|
B | |
| 3750 | chr19 | 54456246 | G | A |
c.1304+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 26586 | chr19 | 54738550 | C | A |
-
c.5C>A
|
-
p.Ser2Ter
|
3.0 |
|
B | ||
| 13862 | chr19 | 54742161 | C | A |
c.252C>A
|
p.Asn84Lys
|
- | 3.0 |
|
B | |
| 12305 | chr19 | 54742213 | G | A |
c.304G>A
|
p.Gly102Ser
|
3.0 |
|
B | ||
| 12304 | chr19 | 54742214 | G | A |
c.305G>A
|
p.Gly102Asp
|
3.0 |
|
B | ||
| 32054 | chr19 | 54742259 | C | T |
c.350C>T
|
p.Pro117Leu
|
- | 3.0 |
|
B | |
| 33868 | chr19 | 54742295 | C | T |
c.370+16C>T
|
-
|
3.0 |
|
B | ||
| 28878 | chr19 | 54743959 | G | A |
c.535G>A
|
p.Gly179Arg
|
3.0 |
|
B | ||
| 29375 | chr19 | 54743968 | C | A |
c.544C>A
|
p.Gln182Lys
|
- | 3.0 |
|
B | |
| 30372 | chr19 | 54743987 | G | A |
c.563G>A
|
p.Gly188Asp
|
2.5 |
|
B | ||
| 14362 | chr19 | 54744065 | A | G |
c.641A>G
|
p.Asp214Gly
|
- | 3.0 |
|
B | |
| 17418 | chr19 | 54747379 | G | A |
c.709G>A
|
p.Glu237Lys
|
1.0 |
|
B |