Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16091 | chr19 | 15267510 | C | G |
c.465G>C
|
p.Lys155Asn
|
- | 3.0 |
|
B | |
| 34216 | chr19 | 15268905 | CTTG | C |
c.420_422del
|
p.Asn140del
|
- | 3.0 |
|
B | |
| 35615 | chr19 | 15268963 | G | T |
c.365C>A
|
p.Ala122Asp
|
- | 3.0 |
|
B | |
| 16849 | chr19 | 15269005 | C | T |
c.323G>A
|
p.Gly108Glu
|
- | 3.0 |
|
B | |
| 4779 | chr19 | 15448103 | C | T |
c.205G>A
-
|
p.Asp69Asn
-
|
- | 3.0 |
|
B | |
| 3459 | chr19 | 15741663 | C | T |
c.271C>T
|
p.Arg91Cys
|
3.0 |
|
B | ||
| 5227 | chr19 | 16945584 | C | T |
c.2758G>A
|
p.Gly920Arg
|
3.0 |
|
B | ||
| 4863 | chr19 | 17328918 | G | T |
c.1470C>A
|
p.His490Gln
|
3.0 |
|
B | ||
| 5267 | chr19 | 17527303 | T | TG |
c.-34dup
|
-
|
- | 3.0 |
|
B | |
| 3735 | chr19 | 17727333 | G | GCT |
c.1950_1951insTC
|
p.Glu652AlafsTer6
|
- | 3.0 |
|
B | |
| 32670 | chr19 | 17830079 | G | A |
c.3207+29C>T
|
-
|
- | 3.0 |
|
B | |
| 1656 | chr19 | 17830098 | C | CG |
c.3207+9dup
|
-
|
- | 3.0 |
|
B | |
| 19838 | chr19 | 17830102 | G | A |
c.3207+6C>T
|
-
|
- | 3.0 |
|
B | |
| 2991 | chr19 | 17830507 | G | A |
c.3092C>T
|
p.Ser1031Leu
|
3.0 |
|
B | ||
| 13644 | chr19 | 17830631 | G | A |
c.2979-11C>T
|
-
|
3.0 |
|
B | ||
| 2181 | chr19 | 17831723 | G | A |
c.2756C>T
|
p.Ala919Val
|
2.5 |
|
B | ||
| 550 | chr19 | 17831732 | C | T |
c.2747G>A
|
p.Arg916Gln
|
- | 3.0 |
|
B | |
| 26455 | chr19 | 17832698 | C | G |
c.2501G>C
|
p.Gly834Ala
|
- | 3.0 |
|
B | |
| 27890 | chr19 | 17832930 | C | T |
c.2351-1G>A
|
p.?
|
3.0 |
|
B | ||
| 15042 | chr19 | 17834684 | G | A |
c.2237C>T
|
p.Ala746Val
|
3.0 |
|
B |