Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10829 | chr7 | 13931484 | C | T |
c.802+18G>A
|
-
|
3.0 |
|
B | ||
| 22880 | chr7 | 13931525 | G | A |
c.779C>T
|
p.Pro260Leu
|
3.0 |
|
B | ||
| 9944 | chr7 | 13931529 | C | T |
c.775G>A
|
p.Glu259Lys
|
- | 3.0 |
|
B | |
| 15880 | chr7 | 13931589 | TG | T |
c.714del
|
p.His238GlnfsTer17
|
- | 3.0 |
|
B | |
| 1266 | chr7 | 13931642 | G | A |
c.662C>T
|
p.Pro221Leu
|
3.0 |
|
B | ||
| 23774 | chr7 | 13931643 | G | A |
c.661C>T
|
p.Pro221Ser
|
3.0 |
|
B | ||
| 22041 | chr7 | 13931686 | T | G |
c.618A>C
|
p.Glu206Asp
|
- | 3.0 |
|
B | |
| 7973 | chr7 | 13935743 | C | G |
c.519G>C
|
p.Gln173His
|
3.0 |
|
B | ||
| 10468 | chr7 | 13935777 | T | A |
c.485A>T
|
p.Asp162Val
|
- | 3.0 |
|
B | |
| 14723 | chr7 | 13935781 | G | A |
c.481C>T
|
p.Pro161Ser
|
3.0 |
|
B | ||
| 15227 | chr7 | 13935853 | G | T |
c.409C>A
|
p.Pro137Thr
|
3.0 |
|
B | ||
| 11277 | chr7 | 13935854 | G | T |
c.408C>A
|
p.Asn136Lys
|
3.0 |
|
B | ||
| 28698 | chr7 | 13935907 | G | A |
c.366-11C>T
|
-
|
3.0 |
|
B | ||
| 32305 | chr7 | 13939208 | G | T |
c.274C>A
|
p.Pro92Thr
|
3.0 |
|
B | ||
| 2234 | chr7 | 13977433 | C | T |
c.229G>A
|
p.Glu77Lys
|
3.0 |
|
B | ||
| 29632 | chr7 | 13986142 | G | A |
c.181+496C>T
|
-
|
3.0 |
|
B | ||
| 29233 | chr7 | 13986699 | C | A |
c.134-14G>T
|
-
|
- | 3.0 |
|
B | |
| 7559 | chr7 | 13988177 | C | G |
c.46-4G>C
|
-
|
- | 3.0 |
|
B | |
| 24392 | chr7 | 13988190 | A | C |
c.46-17T>G
|
-
|
- | 3.0 |
|
B | |
| 22002 | chr7 | 13988726 | T | G |
c.45+282A>C
|
-
|
- | 3.0 |
|
B |