Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1944 | chr12 | 12718254 | GA | G |
c.416del
|
p.Asp139AlafsTer6
|
- | 4.0 |
|
B | |
| 16794 | chr12 | 12718267 | G | A |
c.428G>A
|
p.Gly143Glu
|
- | 3.0 |
|
B | |
| 6630 | chr12 | 12718280 | A | C |
c.441A>C
|
p.Gln147His
|
3.0 |
|
B | ||
| 30286 | chr12 | 12718297 | A | C |
c.458A>C
|
p.Lys153Thr
|
- | 3.0 |
|
B | |
| 14949 | chr12 | 12721211 | G | A |
c.*184G>A
|
-
|
- | 3.0 |
|
B | |
| 19660 | chr12 | 12908413 | A | G |
c.164A>G
|
p.Lys55Arg
|
- | 3.0 |
|
B | |
| 20532 | chr12 | 12908725 | G | A |
c.476G>A
|
p.Arg159Lys
|
3.0 |
|
B | ||
| 20928 | chr12 | 12909103 | A | T |
c.854A>T
|
p.Lys285Ile
|
- | 3.0 |
|
B | |
| 21426 | chr12 | 12909168 | C | G |
c.919C>G
|
p.Gln307Glu
|
- | 3.0 |
|
B | |
| 4401 | chr12 | 14567623 | A | T |
c.74T>A
|
p.Leu25Gln
|
3.0 |
|
B | ||
| 4724 | chr12 | 14823121 | A | T |
-
c.186A>T
|
-
p.Gln62His
|
- | 3.0 |
|
B | |
| 4725 | chr12 | 14823122 | A | T |
-
c.187A>T
|
-
p.Met63Leu
|
- | 3.0 |
|
B | |
| 11219 | chr12 | 15578878 | T | A |
c.2855T>A
|
p.Ile952Asn
|
- | 3.0 |
|
B | |
| 28876 | chr12 | 16989853 | TA | T |
-
|
-
|
1.0 |
|
B | ||
| 4216 | chr12 | 18282154 | C | T |
c.73C>T
|
p.Leu25Phe
|
- | 3.0 |
|
B | |
| 10805 | chr12 | 18282166 | C | T |
c.85C>T
|
p.Gln29Ter
|
- | 3.0 |
|
B | |
| 9299 | chr12 | 18282176 | C | T |
c.95C>T
|
p.Ser32Phe
|
- | 3.0 |
|
B | |
| 12373 | chr12 | 18282242 | A | G |
c.161A>G
|
p.Tyr54Cys
|
- | 3.0 |
|
B | |
| 14487 | chr12 | 18282366 | A | C |
c.285A>C
|
p.Glu95Asp
|
3.0 |
|
B | ||
| 31784 | chr12 | 18282434 | A | T |
c.353A>T
|
p.Gln118Leu
|
- | 3.0 |
|
B |