Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12878 | chr5 | 87372190 | C | T |
c.1771C>T
|
p.Arg591Cys
|
- | 3.0 |
|
B | |
| 11944 | chr5 | 87372200 | A | T |
c.1776+5A>T
|
-
|
- | 3.0 |
|
B | |
| 25694 | chr5 | 87374337 | C | T |
c.1934+17C>T
|
-
|
3.0 |
|
B | ||
| 33488 | chr5 | 87376422 | C | G |
c.2041C>G
|
p.Gln681Glu
|
- | 3.0 |
|
B | |
| 32301 | chr5 | 87376500 | C | T |
c.2119C>T
|
p.Arg707Cys
|
- | 3.5 |
|
B | |
| 27462 | chr5 | 87376503 | G | C |
c.2122G>C
|
p.Val708Leu
|
- | 3.0 |
|
B | |
| 35575 | chr5 | 87378385 | T | G |
c.2345-11T>G
|
-
|
- | 3.0 |
|
B | |
| 5678 | chr5 | 87379816 | G | T |
c.2569G>T
|
p.Glu857Ter
|
- | 3.5 |
|
B | |
| 4013 | chr5 | 87380539 | G | C |
c.2634G>C
|
p.Gln878His
|
- | 3.0 |
|
B | |
| 26999 | chr5 | 87380585 | AGAGTTGTTAGGTAAGGCTCATCAATTGATTTGTTAAATCACATACTAATAGGTG | A |
c.2683_2690+46del
|
p.?
|
- | 3.5 |
|
B | |
| 29698 | chr5 | 87383717 | T | C |
c.2695T>C
|
p.Phe899Leu
|
- | 3.0 |
|
B | |
| 8586 | chr5 | 87383729 | C | T |
c.2707C>T
|
p.Arg903Ter
|
4.0 |
|
B | ||
| 7173 | chr5 | 87383767 | C | G |
c.2745C>G
|
p.Phe915Leu
|
- | 3.0 |
|
B | |
| 26415 | chr5 | 87383782 | T | C |
c.2758+2T>C
|
p.?
|
- | 3.5 |
|
B | |
| 14066 | chr5 | 87389379 | C | G |
c.2926-14C>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 17096 | chr5 | 87390802 | C | A |
c.3063C>A
-
|
p.His1021Gln
-
|
- | 3.0 |
|
B | |
| 3027 | chr5 | 87390870 | A | G |
c.3131A>G
-
|
p.Asn1044Ser
-
|
2.5 |
|
B | ||
| 24819 | chr5 | 87394453 | G | C |
-
c.965C>G
|
-
p.Ser322Cys
|
3.0 |
|
B | ||
| 4828 | chr5 | 88823773 | T | C |
c.16A>G
|
p.Ile6Val
|
- | 3.0 |
|
B | |
| 4663 | chr5 | 90788227 | G | A |
c.13810G>A
|
p.Val4604Ile
|
3.0 |
|
B |