Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31614 | chr19 | 40396233 | G | A |
c.2119C>T
|
p.Pro707Ser
|
- | 3.0 |
|
B | |
| 7233 | chr19 | 40396245 | C | A |
c.2107G>T
|
p.Asp703Tyr
|
- | 3.0 |
|
B | |
| 34401 | chr19 | 40396524 | C | T |
c.1828G>A
|
p.Glu610Lys
|
3.0 |
|
B | ||
| 7234 | chr19 | 40396890 | C | G |
c.1462G>C
|
p.Glu488Gln
|
- | 3.0 |
|
B | |
| 32393 | chr19 | 40396980 | C | T |
c.1372G>A
|
p.Ala458Thr
|
- | 3.0 |
|
B | |
| 9964 | chr19 | 40397187 | G | C |
c.1165C>G
|
p.Pro389Ala
|
- | 3.0 |
|
B | |
| 13574 | chr19 | 40397249 | C | T |
c.1103G>A
|
p.Arg368Gln
|
3.0 |
|
B | ||
| 33804 | chr19 | 40397508 | C | T |
c.844G>A
|
p.Ala282Thr
|
3.0 |
|
B | ||
| 5918 | chr19 | 40397526 | C | T |
c.826G>A
|
p.Gly276Arg
|
3.0 |
|
B | ||
| 6810 | chr19 | 40397640 | C | T |
c.712G>A
|
p.Gly238Arg
|
- | 3.0 |
|
B | |
| 4275 | chr19 | 40397724 | C | T |
c.628G>A
|
p.Ala210Thr
|
3.0 |
|
B | ||
| 7122 | chr19 | 40397771 | C | T |
c.581G>A
|
p.Arg194His
|
3.0 |
|
B | ||
| 31224 | chr19 | 40397820 | G | A |
c.532C>T
|
p.Pro178Ser
|
- | 3.0 |
|
B | |
| 9458 | chr19 | 40397835 | C | T |
c.517G>A
|
p.Glu173Lys
|
3.0 |
|
B | ||
| 7235 | chr19 | 40397889 | C | A |
c.463G>T
|
p.Asp155Tyr
|
- | 3.0 |
|
B | |
| 28932 | chr19 | 40398615 | C | T |
c.381+5G>A
|
-
|
- | 3.0 |
|
B | |
| 11116 | chr19 | 40398642 | G | A |
c.359C>T
|
p.Pro120Leu
|
3.0 |
|
B | ||
| 31938 | chr19 | 40398643 | G | A |
c.358C>T
|
p.Pro120Ser
|
- | 3.0 |
|
B | |
| 11008 | chr19 | 40398695 | G | A |
c.306C>T
|
p.Thr102=
|
1.0 |
|
B | ||
| 7797 | chr19 | 40398821 | G | A |
c.185-5C>T
|
-
|
2.5 |
|
B |