Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21361 | chr1 | 158667858 | C | G |
c.2038G>C
|
p.Gly680Arg
|
- | 3.0 |
|
B | |
| 20485 | chr1 | 158667882 | A | C |
c.2014T>G
|
p.Leu672Val
|
- | 3.0 |
|
B | |
| 27851 | chr1 | 158667885 | C | T |
c.2011G>A
|
p.Glu671Lys
|
- | 3.0 |
|
B | |
| 5648 | chr1 | 158667889 | C | A |
c.2007G>T
|
p.Trp669Cys
|
- | 3.0 |
|
B | |
| 10172 | chr1 | 158667992 | G | A |
c.1904C>T
|
p.Thr635Ile
|
3.0 |
|
B | ||
| 24408 | chr1 | 158669452 | A | C |
c.1789T>G
|
p.Trp597Gly
|
- | 3.0 |
|
B | |
| 5527 | chr1 | 158669463 | T | A |
c.1778A>T
|
p.Asp593Val
|
- | 3.0 |
|
B | |
| 22033 | chr1 | 158669518 | G | A |
c.1723C>T
|
p.Arg575Cys
|
3.0 |
|
B | ||
| 32450 | chr1 | 158669711 | C | T |
c.1675G>A
|
p.Gly559Arg
|
3.0 |
|
B | ||
| 33602 | chr1 | 158669714 | C | G |
c.1672G>C
|
p.Asp558His
|
- | 3.0 |
|
B | |
| 23830 | chr1 | 158669741 | C | T |
c.1645G>A
|
p.Asp549Asn
|
- | 3.0 |
|
B | |
| 29485 | chr1 | 158671354 | C | T |
c.1588G>A
|
p.Glu530Lys
|
2.5 |
|
B | ||
| 7012 | chr1 | 158671357 | C | T |
c.1585G>A
|
p.Glu529Lys
|
- | 3.0 |
|
B | |
| 5114 | chr1 | 158671392 | T | A |
c.1550A>T
|
p.Lys517Met
|
- | 3.0 |
|
B | |
| 6531 | chr1 | 158671414 | T | A |
c.1528A>T
|
p.Ser510Cys
|
- | 3.0 |
|
B | |
| 13314 | chr1 | 158672048 | C | T |
c.1488+11G>A
|
-
|
- | 3.0 |
|
B | |
| 12381 | chr1 | 158672138 | C | A |
c.1409G>T
|
p.Arg470Leu
|
- | 3.0 |
|
B | |
| 34315 | chr1 | 158672138 | C | T |
c.1409G>A
|
p.Arg470His
|
3.0 |
|
B | ||
| 8419 | chr1 | 158672144 | C | T |
c.1403G>A
|
p.Arg468His
|
3.0 |
|
B | ||
| 30545 | chr1 | 158674337 | G | A |
c.1342C>T
|
p.Arg448Trp
|
3.0 |
|
B |