Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29697 | chr5 | 80792772 | TG | T |
c.2585del
|
p.Gly862GlufsTer5
|
- | 4.0 |
|
B | |
| 11937 | chr5 | 80792828 | A | G |
c.2639A>G
|
p.Asn880Ser
|
3.0 |
|
B | ||
| 5845 | chr5 | 80792833 | A | G |
c.2644A>G
|
p.Thr882Ala
|
3.0 |
|
B | ||
| 20314 | chr5 | 80792858 | G | T |
c.2655+14G>T
|
-
|
- | 3.0 |
|
B | |
| 14325 | chr5 | 80854230 | G | A |
c.2914G>A
|
p.Val972Ile
|
- | 3.0 |
|
B | |
| 19994 | chr5 | 80864847 | C | T |
c.3035C>T
|
p.Pro1012Leu
|
3.0 |
|
B | ||
| 18633 | chr5 | 80873300 | A | T |
c.3302+13A>T
|
-
|
- | 3.0 |
|
B | |
| 32122 | chr5 | 80875738 | GA | G |
c.3303-12del
|
-
|
- | 3.0 |
|
B | |
| 11368 | chr5 | 80875783 | C | T |
c.3335C>T
|
p.Thr1112Met
|
2.5 |
|
B | ||
| 4901 | chr5 | 80875861 | A | T |
c.3413A>T
|
p.Ter1138LeuextTer13
|
- | 3.0 |
|
B | |
| 11126 | chr5 | 83538569 | G | A |
c.5566G>A
|
p.Val1856Ile
|
3.0 |
|
B | ||
| 2761 | chr5 | 83555042 | A | G |
c.9735+4A>G
|
-
|
- | 3.0 |
|
B | |
| 31103 | chr5 | 87268489 | C | G |
c.38C>G
|
p.Pro13Arg
|
3.0 |
|
B | ||
| 1830 | chr5 | 87268693 | T | G |
c.242T>G
|
p.Leu81Arg
|
- | 3.0 |
|
B | |
| 892 | chr5 | 87268794 | G | A |
c.343G>A
|
p.Ala115Thr
|
- | 3.0 |
|
B | |
| 24530 | chr5 | 87268819 | T | A |
c.368T>A
|
p.Leu123Ter
|
- | 3.5 |
|
B | |
| 7108 | chr5 | 87268944 | G | T |
c.493G>T
|
p.Glu165Ter
|
- | 4.0 |
|
B | |
| 30113 | chr5 | 87331331 | C | T |
c.540-17C>T
|
-
|
- | 3.0 |
|
B | |
| 2294 | chr5 | 87331426 | AAGAG | A |
c.623_626del
|
p.Glu208ValfsTer16
|
- | 4.0 |
|
B | |
| 11906 | chr5 | 87331439 | C | G |
c.631C>G
|
p.Arg211Gly
|
- | 3.0 |
|
B |