Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10560 | chr19 | 855588 | G | A |
c.391G>A
-
|
p.Ala131Thr
-
|
3.0 |
|
B | ||
| 11514 | chr19 | 855741 | C | T |
c.544C>T
-
|
p.Arg182Cys
-
|
3.0 |
|
B | ||
| 2245 | chr19 | 855744 | C | T |
c.547C>T
-
|
p.Arg183Cys
-
|
3.0 |
|
B | ||
| 20420 | chr19 | 855967 | G | A |
c.607G>A
-
|
p.Gly203Ser
-
|
3.0 |
|
B | ||
| 29858 | chr19 | 856010 | C | T |
c.650C>T
-
|
p.Ser217Phe
-
|
- | 3.0 |
|
B | |
| 17923 | chr19 | 856030 | G | A |
c.670G>A
-
|
p.Ala224Thr
-
|
3.0 |
|
B | ||
| 24130 | chr19 | 1206797 | CT | C |
c.-107del
|
-
|
3.0 |
|
B | ||
| 31702 | chr19 | 1206990 | T | TC |
c.79dup
|
p.His27ProfsTer136
|
- | 4.0 |
|
B | |
| 35182 | chr19 | 1207065 | TG | T |
c.157del
|
p.Asp53ThrfsTer11
|
3.5 |
|
B | ||
| 35186 | chr19 | 1207072 | CCTGCTGGGGGAAGGCTCTTA | C |
c.161_180del
|
p.Leu54ArgfsTer102
|
- | 4.0 |
|
B | |
| 13531 | chr19 | 1207106 | G | T |
c.193G>T
|
p.Glu65Ter
|
- | 4.0 |
|
B | |
| 10294 | chr19 | 1207118 | T | A |
c.205T>A
|
p.Ser69Thr
|
- | 3.0 |
|
B | |
| 25596 | chr19 | 1207149 | TC | T |
c.238del
|
p.Leu80SerfsTer16
|
- | 4.0 |
|
B | |
| 15846 | chr19 | 1207153 | CAAG | C |
c.250_252del
|
p.Lys84del
|
3.5 |
|
B | ||
| 5959 | chr19 | 1207163 | A | T |
c.250A>T
|
p.Lys84Ter
|
4.5 |
|
B | ||
| 6187 | chr19 | 1207169 | C | T |
c.256C>T
|
p.Arg86Ter
|
4.5 |
|
B | ||
| 19177 | chr19 | 1207223 | G | A |
c.290+20G>A
|
-
|
- | 2.0 |
|
B | |
| 5795 | chr19 | 1218416 | G | A |
c.291-1G>A
|
p.?
|
4.5 |
|
B | ||
| 6918 | chr19 | 1218431 | TGAG | T |
c.310_312del
|
p.Arg104del
|
- | 3.0 |
|
B | |
| 28731 | chr19 | 1218452 | ATG | A |
c.328_329del
|
p.Val110HisfsTer52
|
- | 4.0 |
|
B |