Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4298 | chr5 | 122403833 | G | A |
c.98G>A
|
p.Arg33Gln
|
3.0 |
|
B | ||
| 14861 | chr5 | 122403853 | G | A |
c.118G>A
|
p.Glu40Lys
|
3.0 |
|
B | ||
| 24548 | chr5 | 122403878 | C | T |
c.130+13C>T
|
-
|
- | 3.0 |
|
B | |
| 15140 | chr5 | 122422881 | C | G |
c.144C>G
|
p.Ser48Arg
|
- | 3.0 |
|
B | |
| 8845 | chr5 | 122422987 | C | T |
c.250C>T
|
p.His84Tyr
|
- | 3.0 |
|
B | |
| 5256 | chr5 | 122423047 | G | A |
c.310G>A
|
p.Glu104Lys
|
- | 3.0 |
|
B | |
| 29626 | chr5 | 122423161 | G | A |
c.424G>A
|
p.Glu142Lys
|
3.0 |
|
B | ||
| 24783 | chr5 | 122423279 | G | T |
c.542G>T
|
p.Cys181Phe
|
- | 3.0 |
|
B | |
| 11544 | chr5 | 122423285 | C | A |
c.548C>A
|
p.Thr183Asn
|
- | 3.0 |
|
B | |
| 12720 | chr5 | 122423369 | C | T |
c.632C>T
|
p.Ser211Phe
|
- | 3.0 |
|
B | |
| 13712 | chr5 | 122423533 | C | T |
c.796C>T
|
p.Pro266Ser
|
- | 3.0 |
|
B | |
| 3968 | chr5 | 122423612 | C | T |
c.875C>T
|
p.Ser292Phe
|
- | 3.0 |
|
B | |
| 4203 | chr5 | 122425391 | G | A |
c.1042G>A
|
p.Glu348Lys
|
3.0 |
|
B | ||
| 32898 | chr5 | 122431990 | C | T |
c.1204C>T
|
p.Arg402Cys
|
3.0 |
|
B | ||
| 17275 | chr5 | 122440613 | G | A |
c.1297-16G>A
|
-
|
- | 3.0 |
|
B | |
| 19457 | chr5 | 122440719 | G | A |
c.1387G>A
|
p.Val463Ile
|
3.0 |
|
B | ||
| 18570 | chr5 | 122440744 | G | A |
c.1412G>A
|
p.Gly471Glu
|
- | 3.0 |
|
B | |
| 18392 | chr5 | 122444550 | C | T |
c.1423-13C>T
|
-
|
- | 3.0 |
|
B | |
| 34767 | chr5 | 122444604 | C | A |
c.1464C>A
|
p.His488Gln
|
- | 3.0 |
|
B | |
| 2920 | chr5 | 122444629 | G | A |
c.1489G>A
|
p.Ala497Thr
|
3.0 |
|
B |