Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23804 | chr5 | 1293436 | C | T |
c.1450G>A
|
p.Glu484Lys
|
3.0 |
|
B | ||
| 14926 | chr5 | 1293461 | TG | T |
c.1424del
|
p.Pro475GlnfsTer34
|
- | 3.5 |
|
B | |
| 31898 | chr5 | 1293493 | C | A |
c.1393G>T
|
p.Val465Leu
|
- | 3.0 |
|
B | |
| 10604 | chr5 | 1293568 | C | T |
c.1318G>A
|
p.Glu440Lys
|
- | 3.0 |
|
B | |
| 13351 | chr5 | 1293652 | G | A |
c.1234C>T
|
p.His412Tyr
|
3.0 |
|
B | ||
| 8020 | chr5 | 1293850 | G | C |
c.1036C>G
|
p.Leu346Val
|
3.0 |
|
B | ||
| 6182 | chr5 | 1293943 | G | A |
c.943C>T
|
p.Arg315Cys
|
- | 3.0 |
|
B | |
| 6475 | chr5 | 1293954 | G | A |
c.932C>T
|
p.Ser311Leu
|
3.0 |
|
B | ||
| 8021 | chr5 | 1293957 | G | C |
c.929C>G
|
p.Thr310Arg
|
- | 3.0 |
|
B | |
| 8261 | chr5 | 1293969 | C | T |
c.917G>A
|
p.Gly306Asp
|
3.0 |
|
B | ||
| 35313 | chr5 | 1293984 | C | T |
c.902G>A
|
p.Arg301His
|
3.0 |
|
B | ||
| 21514 | chr5 | 1294009 | G | A |
c.877C>T
|
p.Arg293Cys
|
- | 3.0 |
|
B | |
| 8022 | chr5 | 1294017 | G | C |
c.869C>G
|
p.Ser290Cys
|
- | 3.0 |
|
B | |
| 11302 | chr5 | 1294350 | C | T |
c.536G>A
|
p.Gly179Asp
|
- | 3.0 |
|
B | |
| 8772 | chr5 | 1294437 | A | G |
c.449T>C
|
p.Val150Ala
|
- | 3.0 |
|
B | |
| 35092 | chr5 | 1294501 | C | T |
c.385G>A
|
p.Asp129Asn
|
3.0 |
|
B | ||
| 3284 | chr5 | 1294560 | C | G |
c.326G>C
|
p.Gly109Ala
|
3.0 |
|
B | ||
| 3285 | chr5 | 1294563 | C | G |
c.323G>C
|
p.Arg108Pro
|
3.0 |
|
B | ||
| 5269 | chr5 | 1294569 | C | T |
c.317G>A
|
p.Gly106Glu
|
- | 3.0 |
|
B | |
| 35146 | chr5 | 1294847 | C | T |
c.143G>A
|
p.Arg48His
|
3.0 |
|
B |