Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3445 | chr12 | 93575147 | G | A |
c.565G>A
|
p.Asp189Asn
|
- | 3.0 |
|
B | |
| 33404 | chr12 | 95533044 | T | A |
c.1213A>T
|
p.Met405Leu
|
- | 3.0 |
|
B | |
| 30702 | chr12 | 95533208 | G | A |
c.1049C>T
|
p.Ser350Leu
|
3.0 |
|
B | ||
| 906 | chr12 | 95659193 | C | G |
c.1780G>C
|
p.Asp594His
|
- | 3.0 |
|
B | |
| 18324 | chr12 | 95665843 | C | T |
c.1717G>A
|
p.Asp573Asn
|
- | 3.0 |
|
B | |
| 30852 | chr12 | 95665845 | G | A |
c.1715C>T
|
p.Thr572Met
|
3.0 |
|
B | ||
| 13573 | chr12 | 95665894 | T | C |
c.1666A>G
|
p.Lys556Glu
|
- | 3.0 |
|
B | |
| 3201 | chr12 | 95665959 | G | A |
c.1601C>T
|
p.Ser534Leu
|
- | 3.0 |
|
B | |
| 19724 | chr12 | 95665971 | AT | A |
c.1588del
|
p.Ile530Ter
|
- | 3.0 |
|
B | |
| 30245 | chr12 | 95665978 | G | A |
c.1582C>T
|
p.Leu528=
|
- | 3.0 |
|
B | |
| 2236 | chr12 | 95670095 | C | A |
c.1562G>T
|
p.Gly521Val
|
- | 3.0 |
|
B | |
| 27170 | chr12 | 95682761 | C | T |
c.1456G>A
|
p.Glu486Lys
|
3.0 |
|
B | ||
| 3485 | chr12 | 95683513 | C | T |
c.1379G>A
|
p.Gly460Glu
|
3.0 |
|
B | ||
| 16072 | chr12 | 95683534 | C | T |
c.1358G>A
|
p.Gly453Glu
|
- | 3.0 |
|
B | |
| 23257 | chr12 | 95683537 | G | A |
c.1355C>T
|
p.Ala452Val
|
3.0 |
|
B | ||
| 1864 | chr12 | 95683600 | C | G |
c.1292G>C
|
p.Cys431Ser
|
- | 3.0 |
|
B | |
| 2114 | chr12 | 95710561 | G | A |
c.1060C>T
|
p.Arg354Cys
|
3.0 |
|
B | ||
| 16492 | chr12 | 95713194 | C | T |
c.991+18G>A
|
-
|
3.0 |
|
B | ||
| 17987 | chr12 | 95738056 | C | T |
c.674G>A
|
p.Arg225His
|
3.0 |
|
B | ||
| 22364 | chr12 | 95786925 | A | T |
c.585+14T>A
|
-
|
- | 3.0 |
|
B |