Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7845 | chr19 | 5244098 | C | T |
c.1373G>A
|
p.Arg458His
|
3.0 |
|
B | ||
| 9372 | chr19 | 5244122 | G | A |
c.1349C>T
|
p.Pro450Leu
|
- | 3.0 |
|
B | |
| 9081 | chr19 | 5244234 | G | A |
c.1237C>T
|
p.Pro413Ser
|
- | 3.0 |
|
B | |
| 22110 | chr19 | 5244498 | A | T |
c.989-16T>A
|
-
|
- | 3.0 |
|
B | |
| 29776 | chr19 | 5245809 | C | T |
c.955G>A
|
p.Val319Ile
|
3.0 |
|
B | ||
| 12212 | chr19 | 5245889 | G | A |
c.875C>T
|
p.Pro292Leu
|
3.0 |
|
B | ||
| 21243 | chr19 | 5245904 | G | A |
c.860C>T
|
p.Pro287Leu
|
3.0 |
|
B | ||
| 20168 | chr19 | 5246052 | AG | A |
c.719-8del
|
-
|
3.0 |
|
B | ||
| 28651 | chr19 | 5256091 | G | T |
c.718+17C>A
|
-
|
- | 3.0 |
|
B | |
| 10576 | chr19 | 5258004 | C | T |
c.706+13G>A
|
-
|
3.0 |
|
B | ||
| 7266 | chr19 | 5260819 | C | T |
c.581G>A
|
p.Ser194Asn
|
- | 3.0 |
|
B | |
| 6518 | chr19 | 5262974 | T | A |
c.569-2A>T
|
p.?
|
- | 4.0 |
|
B | |
| 22956 | chr19 | 5265140 | C | T |
c.436G>A
|
p.Val146Met
|
- | 3.0 |
|
B | |
| 9642 | chr19 | 5265155 | G | A |
c.421C>T
|
p.Pro141Ser
|
3.0 |
|
B | ||
| 15967 | chr19 | 5274209 | T | G |
c.227A>C
|
p.Gln76Pro
|
- | 3.0 |
|
B | |
| 17400 | chr19 | 5274299 | G | A |
c.137C>T
|
p.Ser46Leu
|
3.0 |
|
B | ||
| 29031 | chr19 | 5274306 | C | T |
c.130G>A
|
p.Gly44Ser
|
- | 3.0 |
|
B | |
| 35697 | chr19 | 5274323 | T | C |
c.113A>G
|
p.Glu38Gly
|
- | 3.0 |
|
B | |
| 16625 | chr19 | 6213055 | G | A |
c.1667C>T
|
p.Ala556Val
|
- | 3.0 |
|
B | |
| 17401 | chr19 | 6213100 | G | A |
c.1622C>T
|
p.Ser541Phe
|
- | 3.0 |
|
B |