Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7468 | chr12 | 112450358 | G | C |
c.178G>C
|
p.Gly60Arg
|
4.0 |
|
B | ||
| 15729 | chr12 | 112450361 | G | A |
c.181G>A
|
p.Asp61Asn
|
4.0 |
|
B | ||
| 35255 | chr12 | 112450361 | G | C |
c.181G>C
|
p.Asp61His
|
4.5 |
|
B | ||
| 11459 | chr12 | 112450361 | G | T |
c.181G>T
|
p.Asp61Tyr
|
4.0 |
|
B | ||
| 11460 | chr12 | 112450362 | A | T |
c.182A>T
|
p.Asp61Val
|
4.0 |
|
B | ||
| 5095 | chr12 | 112450385 | G | A |
c.205G>A
|
p.Glu69Lys
|
5.0 |
|
B | ||
| 9362 | chr12 | 112450394 | G | T |
c.214G>T
|
p.Ala72Ser
|
4.5 |
|
B | ||
| 1692 | chr12 | 112450402 | G | T |
c.222G>T
|
p.Leu74Phe
|
- | 3.0 |
|
B | |
| 2227 | chr12 | 112450406 | G | A |
c.226G>A
|
p.Glu76Lys
|
4.0 |
|
B | ||
| 24729 | chr12 | 112450407 | A | G |
c.227A>G
|
p.Glu76Gly
|
4.5 |
|
B | ||
| 21111 | chr12 | 112450482 | C | A |
c.302C>A
|
p.Pro101His
|
- | 3.0 |
|
B | |
| 7540 | chr12 | 112453305 | T | C |
c.443T>C
|
p.Val148Ala
|
- | 3.0 |
|
B | |
| 13380 | chr12 | 112453360 | A | T |
c.498A>T
|
p.Lys166Asn
|
- | 3.0 |
|
B | |
| 11912 | chr12 | 112477719 | A | G |
c.922A>G
|
p.Asn308Asp
|
4.5 |
|
B | ||
| 1693 | chr12 | 112477856 | G | T |
c.934-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 14416 | chr12 | 112482158 | G | A |
c.1177G>A
|
p.Ala393Thr
|
3.0 |
|
B | ||
| 1019 | chr12 | 112482210 | G | A |
c.1224+5G>A
|
-
|
- | 3.0 |
|
B | |
| 7939 | chr12 | 112486490 | A | G |
c.1240A>G
|
p.Thr414Ala
|
- | 3.0 |
|
B | |
| 2870 | chr12 | 112486532 | G | A |
c.1282G>A
|
p.Val428Met
|
3.5 |
|
B | ||
| 21738 | chr12 | 112486543 | C | T |
c.1293C>T
|
p.Asp431=
|
- | 3.0 |
|
B |