Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15638 | chr19 | 38596408 | A | G |
c.2020T>C
|
p.Cys674Arg
|
- | 3.0 |
|
B | |
| 11597 | chr19 | 38597036 | G | A |
c.1939C>T
|
p.Arg647Trp
|
- | 3.0 |
|
B | |
| 19794 | chr19 | 38597103 | G | A |
c.1872C>T
|
p.Cys624=
|
3.0 |
|
B | ||
| 10715 | chr19 | 38597340 | C | T |
c.1823G>A
|
p.Arg608Gln
|
3.0 |
|
B | ||
| 17535 | chr19 | 38597547 | G | A |
c.1717C>T
|
p.Arg573Trp
|
3.0 |
|
B | ||
| 17413 | chr19 | 38599913 | C | T |
c.1669+12G>A
|
-
|
- | 3.0 |
|
B | |
| 8623 | chr19 | 38601465 | C | T |
c.1507G>A
|
p.Ala503Thr
|
3.0 |
|
B | ||
| 20176 | chr19 | 38601467 | G | A |
c.1505C>T
|
p.Ala502Val
|
- | 3.0 |
|
B | |
| 4259 | chr19 | 38605491 | T | A |
c.1364A>T
|
p.Glu455Val
|
- | 3.0 |
|
B | |
| 26293 | chr19 | 38605720 | C | T |
c.1211G>A
|
p.Arg404His
|
3.0 |
|
B | ||
| 10195 | chr19 | 38605721 | G | A |
c.1210C>T
|
p.Arg404Cys
|
3.0 |
|
B | ||
| 5804 | chr19 | 38608033 | C | T |
c.1066G>A
|
p.Ala356Thr
|
- | 3.0 |
|
B | |
| 12972 | chr19 | 38608039 | G | A |
c.1066-6C>T
|
-
|
3.0 |
|
B | ||
| 21802 | chr19 | 38608110 | A | C |
c.1065+2T>G
|
p.?
|
3.0 |
|
B | ||
| 30460 | chr19 | 38609577 | A | T |
c.1006+19T>A
|
-
|
3.0 |
|
B | ||
| 20628 | chr19 | 38609614 | G | C |
c.988C>G
|
p.Pro330Ala
|
- | 3.0 |
|
B | |
| 11380 | chr19 | 38609656 | G | A |
c.946C>T
|
p.Arg316Trp
|
3.0 |
|
B | ||
| 6178 | chr19 | 38609679 | G | A |
c.928-5C>T
|
-
|
- | 3.0 |
|
B | |
| 18186 | chr19 | 38609913 | G | A |
c.923C>T
|
p.Pro308Leu
|
- | 3.0 |
|
B | |
| 32726 | chr19 | 38611068 | C | T |
c.793G>A
|
p.Ala265Thr
|
3.0 |
|
B |