Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2542 | chr2 | 96254946 | AAGG | A |
c.293_295del
|
p.Ala98_Phe99delinsVal
|
- | 3.0 |
|
B | |
| 21504 | chr2 | 96254950 | C | T |
c.292G>A
|
p.Ala98Thr
|
2.5 |
|
B | ||
| 14478 | chr2 | 96254965 | GGAGCA | G |
c.272_276del
|
p.Leu91ProfsTer15
|
- | 4.0 |
|
B | |
| 31351 | chr2 | 96255001 | T | C |
c.245-4A>G
|
-
|
2.0 |
|
B | ||
| 2486 | chr2 | 96265142 | C | T |
-
c.240G>A
|
-
p.Leu80=
|
- | 3.0 |
|
B | |
| 21591 | chr2 | 96265304 | C | G |
-
c.78G>C
|
-
p.Gln26His
|
- | 3.0 |
|
B | |
| 26986 | chr2 | 96266406 | G | C |
c.56G>C
-
|
p.Cys19Ser
-
|
3.0 |
|
B | ||
| 24525 | chr2 | 96267859 | T | C |
c.424T>C
-
|
p.Cys142Arg
-
|
- | 3.0 |
|
B | |
| 4341 | chr2 | 96693932 | C | T |
c.3496C>T
|
p.Arg1166Trp
|
3.0 |
|
B | ||
| 3295 | chr2 | 97762093 | G | A |
c.4831C>T
|
p.Pro1611Ser
|
- | 3.0 |
|
B | |
| 13470 | chr2 | 98520679 | C | A |
c.107-8C>A
|
-
|
- | 3.0 |
|
B | |
| 26535 | chr2 | 98533362 | G | A |
c.152-15G>A
|
-
|
3.0 |
|
B | ||
| 11333 | chr2 | 98533385 | G | C |
c.160G>C
|
p.Glu54Gln
|
- | 3.0 |
|
B | |
| 30811 | chr2 | 98536109 | C | T |
c.388-20C>T
|
-
|
3.0 |
|
B | ||
| 3845 | chr2 | 98538921 | G | A |
c.610G>A
|
p.Glu204Lys
|
- | 3.0 |
|
B | |
| 3846 | chr2 | 98538931 | G | C |
c.620G>C
|
p.Gly207Ala
|
- | 3.0 |
|
B | |
| 3847 | chr2 | 98539572 | G | A |
c.715G>A
|
p.Asp239Asn
|
- | 3.0 |
|
B | |
| 34877 | chr2 | 98539608 | G | A |
c.751G>A
|
p.Glu251Lys
|
- | 3.0 |
|
B | |
| 18546 | chr2 | 98554377 | C | T |
c.1454C>T
|
p.Ser485Leu
|
3.0 |
|
B | ||
| 24268 | chr2 | 98555653 | A | T |
c.1667A>T
|
p.Asp556Val
|
- | 3.0 |
|
B |