Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24132 | chr19 | 50403112 | TG | T |
c.1036del
|
p.Glu346SerfsTer47
|
3.5 |
|
B | ||
| 28344 | chr19 | 50403119 | AGC | A |
c.1038_1039del
|
p.Glu346AspfsTer288
|
- | 4.0 |
|
B | |
| 16628 | chr19 | 50403529 | G | A |
c.1174G>A
|
p.Val392Met
|
2.5 |
|
B | ||
| 17717 | chr19 | 50403598 | G | A |
c.1242+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 33897 | chr19 | 50406279 | A | C |
c.1340A>C
|
p.Lys447Thr
|
- | 3.0 |
|
B | |
| 11111 | chr19 | 50406992 | G | C |
c.1504G>C
|
p.Asp502His
|
3.0 |
|
B | ||
| 31156 | chr19 | 50407050 | G | A |
c.1562G>A
|
p.Arg521Gln
|
2.5 |
|
B | ||
| 8418 | chr19 | 50407107 | G | T |
c.1619G>T
|
p.Gly540Val
|
- | 3.0 |
|
B | |
| 9643 | chr19 | 50407169 | CG | C |
c.1683del
|
p.Gln562ArgfsTer8
|
- | 4.0 |
|
B | |
| 8576 | chr19 | 50407378 | G | A |
c.1738G>A
|
p.Asp580Asn
|
3.0 |
|
B | ||
| 24050 | chr19 | 50408690 | A | T |
c.1776-95A>T
|
-
|
- | 3.0 |
|
B | |
| 19903 | chr19 | 50408690 | AT | A |
c.1776-83del
|
-
|
2.0 |
|
B | ||
| 11314 | chr19 | 50408690 | ATT | A |
c.1776-84_1776-83del
|
-
|
3.0 |
|
B | ||
| 21564 | chr19 | 50408714 | C | T |
c.1776-71C>T
|
-
|
- | 3.0 |
|
B | |
| 29674 | chr19 | 50408858 | TG | T |
c.1850del
|
p.Cys617PhefsTer16
|
- | 4.0 |
|
B | |
| 6238 | chr19 | 50409121 | G | A |
c.1893-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 25236 | chr19 | 50409122 | CCTGA | C |
c.1898_1901del
|
p.Thr633ArgfsTer14
|
- | 4.0 |
|
B | |
| 29400 | chr19 | 50409150 | C | T |
c.1921C>T
|
p.Pro641Ser
|
- | 3.0 |
|
B | |
| 19121 | chr19 | 50409183 | C | T |
c.1954C>T
|
p.Arg652Trp
|
3.0 |
|
B | ||
| 8891 | chr19 | 50409559 | C | T |
c.2047C>T
|
p.Arg683Cys
|
3.0 |
|
B |