Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33912 | chr19 | 41238070 | C | T |
c.910C>T
|
p.Pro304Ser
|
- | 3.0 |
|
B | |
| 14424 | chr19 | 41238082 | C | T |
c.922C>T
|
p.Arg308Cys
|
3.0 |
|
B | ||
| 15781 | chr19 | 41238155 | G | A |
c.994+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 10734 | chr19 | 41238481 | C | T |
c.1006C>T
|
p.Pro336Ser
|
- | 3.0 |
|
B | |
| 18692 | chr19 | 41238535 | C | G |
c.1060C>G
|
p.Gln354Glu
|
- | 3.0 |
|
B | |
| 6794 | chr19 | 41239256 | C | G |
c.1227C>G
|
p.Tyr409Ter
|
- | 3.0 |
|
B | |
| 25678 | chr19 | 41242951 | G | A |
c.1381G>A
|
p.Ala461Thr
|
3.0 |
|
B | ||
| 6016 | chr19 | 41243009 | G | A |
c.1439G>A
|
p.Arg480His
|
3.0 |
|
B | ||
| 22402 | chr19 | 41243027 | C | T |
c.1445+12C>T
|
-
|
3.0 |
|
B | ||
| 20845 | chr19 | 41243610 | C | T |
c.1446-6C>T
|
-
|
3.0 |
|
B | ||
| 16853 | chr19 | 41248558 | G | A |
c.1582G>A
|
p.Asp528Asn
|
3.0 |
|
B | ||
| 14812 | chr19 | 41248616 | C | T |
c.1633+7C>T
|
-
|
3.0 |
|
B | ||
| 2174 | chr19 | 41252428 | G | A |
c.1789G>A
|
p.Val597Ile
|
3.0 |
|
B | ||
| 34305 | chr19 | 41252829 | C | A |
c.1805-17C>A
|
-
|
- | 3.0 |
|
B | |
| 32941 | chr19 | 41252898 | C | G |
c.1857C>G
|
p.Ile619Met
|
- | 3.0 |
|
B | |
| 28422 | chr19 | 41252901 | A | C |
c.1860A>C
|
p.Leu620Phe
|
- | 3.0 |
|
B | |
| 27486 | chr19 | 41252947 | C | T |
c.1906C>T
|
p.Arg636Trp
|
3.0 |
|
B | ||
| 32917 | chr19 | 41253722 | A | C |
c.2036+14A>C
|
-
|
- | 3.0 |
|
B | |
| 22682 | chr19 | 41256458 | T | G |
c.2043T>G
|
p.Asn681Lys
|
- | 3.0 |
|
B | |
| 2098 | chr19 | 41256586 | G | A |
c.2171G>A
|
p.Arg724His
|
3.0 |
|
B |