Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18816 | chr19 | 6853083 | G | A |
c.2332+4G>A
|
-
|
- | 3.0 |
|
B | |
| 14290 | chr19 | 6854007 | G | A |
c.2393G>A
|
p.Arg798Gln
|
- | 3.0 |
|
B | |
| 32546 | chr19 | 6854019 | C | T |
c.2405C>T
|
p.Ser802Leu
|
3.0 |
|
B | ||
| 11399 | chr19 | 6854084 | G | A |
c.2470G>A
|
p.Glu824Lys
|
- | 3.0 |
|
B | |
| 4778 | chr19 | 6890481 | G | A |
c.32G>A
|
p.Gly11Glu
|
- | 3.0 |
|
B | |
| 629 | chr19 | 7117105 | C | A |
c.4100G>T
|
p.Gly1367Val
|
- | 3.0 |
|
B | |
| 33896 | chr19 | 7117363 | G | A |
c.3842C>T
|
p.Pro1281Leu
|
- | 3.0 |
|
B | |
| 747 | chr19 | 7119468 | C | A |
c.3775G>T
|
p.Asp1259Tyr
|
- | 3.0 |
|
B | |
| 5343 | chr19 | 7119575 | C | A |
c.3668G>T
|
p.Gly1223Val
|
- | 3.0 |
|
B | |
| 5344 | chr19 | 7119576 | C | A |
c.3667G>T
|
p.Gly1223Cys
|
3.0 |
|
B | ||
| 27078 | chr19 | 7120614 | A | T |
c.3659+6T>A
|
-
|
- | 3.0 |
|
B | |
| 17404 | chr19 | 7123009 | G | A |
c.3259-20C>T
|
-
|
3.0 |
|
B | ||
| 12407 | chr19 | 7125328 | G | T |
c.3213C>A
|
p.Phe1071Leu
|
- | 3.0 |
|
B | |
| 23723 | chr19 | 7125522 | G | A |
c.3019C>T
|
p.Pro1007Ser
|
3.0 |
|
B | ||
| 35097 | chr19 | 7125522 | GAAACACT | G |
c.3014-2_3018del
|
p.?
|
- | 3.0 |
|
B | |
| 20771 | chr19 | 7125543 | C | G |
c.3014-16G>C
|
-
|
3.0 |
|
B | ||
| 35061 | chr19 | 7126641 | C | T |
c.2956G>A
|
p.Gly986Arg
|
- | 3.0 |
|
B | |
| 35614 | chr19 | 7128961 | T | C |
c.2843-7A>G
|
-
|
3.0 |
|
B | ||
| 14079 | chr19 | 7132336 | G | C |
c.2683-19C>G
|
-
|
- | 3.0 |
|
B | |
| 1280 | chr19 | 7141763 | C | T |
c.2596G>A
|
p.Val866Ile
|
3.0 |
|
B |