Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12228 | chr13 | 28405760 | C | T |
c.1551+20G>A
|
-
|
3.0 |
|
B | ||
| 22604 | chr13 | 28405761 | G | A |
c.1551+19C>T
|
-
|
3.0 |
|
B | ||
| 24283 | chr13 | 28405803 | C | T |
c.1528G>A
|
p.Ala510Thr
|
- | 3.0 |
|
B | |
| 6167 | chr13 | 28405899 | TA | T |
c.1437-6del
|
-
|
3.0 |
|
B | ||
| 5082 | chr13 | 28427263 | G | T |
c.1332C>A
|
p.Tyr444Ter
|
- | 3.0 |
|
B | |
| 24577 | chr13 | 28427268 | G | A |
c.1327C>T
|
p.Leu443Phe
|
- | 3.0 |
|
B | |
| 30046 | chr13 | 28427862 | G | A |
c.1166C>T
|
p.Ser389Leu
|
3.0 |
|
B | ||
| 1464 | chr13 | 28431151 | A | T |
c.973T>A
|
p.Ser325Thr
|
- | 3.0 |
|
B | |
| 25165 | chr13 | 28431156 | T | C |
c.968A>G
|
p.Asn323Ser
|
- | 3.0 |
|
B | |
| 4973 | chr13 | 28431282 | C | T |
c.842G>A
|
p.Arg281Gln
|
3.0 |
|
B | ||
| 28963 | chr13 | 28431285 | C | T |
c.839G>A
|
p.Arg280Gln
|
2.0 |
|
B | ||
| 27477 | chr13 | 28434217 | G | A |
c.517C>T
|
p.Pro173Ser
|
- | 3.0 |
|
B | |
| 9477 | chr13 | 28438226 | T | A |
c.508A>T
|
p.Lys170Ter
|
- | 3.0 |
|
B | |
| 12750 | chr13 | 28438277 | C | T |
c.457G>A
|
p.Glu153Lys
|
- | 3.0 |
|
B | |
| 17346 | chr13 | 28467077 | C | T |
c.214G>A
|
p.Glu72Lys
|
3.0 |
|
B | ||
| 9715 | chr13 | 28467086 | TACTC | T |
c.201_204del
|
p.Ser68ArgfsTer6
|
- | 3.0 |
|
B | |
| 23141 | chr13 | 28467557 | A | T |
c.125T>A
|
p.Ile42Asn
|
- | 3.0 |
|
B | |
| 26819 | chr13 | 28467588 | G | A |
c.94C>T
|
p.Pro32Ser
|
- | 3.0 |
|
B | |
| 11593 | chr13 | 28467593 | T | C |
c.89A>G
|
p.Lys30Arg
|
- | 3.0 |
|
B | |
| 34344 | chr13 | 28494821 | C | T |
c.23G>A
|
p.Gly8Glu
|
3.0 |
|
B |