Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28149 | chr17 | 7497046 | G | A |
c.819+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 22449 | chr17 | 7497336 | A | G |
c.820-20A>G
|
-
|
3.0 |
|
B | ||
| 23883 | chr17 | 7497355 | G | T |
c.820-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 30865 | chr17 | 7497411 | G | A |
c.875G>A
|
p.Arg292His
|
3.0 |
|
B | ||
| 28925 | chr17 | 7497713 | C | T |
c.1045C>T
|
p.Arg349Trp
|
- | 3.0 |
|
B | |
| 27561 | chr17 | 7497758 | C | T |
c.1090C>T
|
p.Arg364Cys
|
- | 3.0 |
|
B | |
| 20636 | chr17 | 7498082 | C | A |
c.1207C>A
|
p.Gln403Lys
|
- | 3.0 |
|
B | |
| 24581 | chr17 | 7499020 | C | T |
c.1336-19C>T
|
-
|
- | 3.0 |
|
B | |
| 27269 | chr17 | 7499178 | G | A |
c.1460+15G>A
|
-
|
- | 3.0 |
|
B | |
| 33217 | chr17 | 7499354 | C | T |
c.1534C>T
|
p.Arg512Ter
|
- | 3.0 |
|
B | |
| 24766 | chr17 | 7500720 | CT | C |
c.1754del
|
p.Leu585ArgfsTer51
|
- | 3.0 |
|
B | |
| 28148 | chr17 | 7500777 | C | T |
c.1810C>T
|
p.Arg604Cys
|
- | 3.0 |
|
B | |
| 21465 | chr17 | 7501058 | T | G |
c.2000T>G
|
p.Leu667Arg
|
- | 3.0 |
|
B | |
| 28397 | chr17 | 7501281 | G | T |
c.2051-8G>T
|
-
|
- | 3.0 |
|
B | |
| 25295 | chr17 | 7501656 | C | T |
c.2276C>T
|
p.Ser759Phe
|
- | 3.0 |
|
B | |
| 31977 | chr17 | 7502027 | C | A |
c.2477C>A
|
p.Ser826Tyr
|
- | 3.0 |
|
B | |
| 32991 | chr17 | 7503451 | C | T |
c.2995C>T
|
p.Arg999Cys
|
3.0 |
|
B | ||
| 28539 | chr17 | 7508956 | C | T |
c.3478C>T
|
p.Arg1160Cys
|
2.5 |
|
B | ||
| 15552 | chr17 | 7509043 | G | A |
c.3565G>A
|
p.Asp1189Asn
|
- | 3.0 |
|
B | |
| 15105 | chr17 | 7511505 | G | A |
c.4018G>A
|
p.Gly1340Ser
|
- | 3.0 |
|
B |