Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7084 | chr8 | 68080512 | G | A |
c.1712G>A
|
p.Gly571Glu
|
- | 3.0 |
|
B | |
| 24205 | chr8 | 68080529 | C | T |
c.1729C>T
|
p.Arg577Ter
|
3.0 |
|
B | ||
| 6034 | chr8 | 68080771 | G | C |
c.1811G>C
|
p.Gly604Ala
|
- | 3.0 |
|
B | |
| 27711 | chr8 | 68080785 | G | A |
c.1825G>A
|
p.Asp609Asn
|
- | 3.0 |
|
B | |
| 28907 | chr8 | 68080839 | G | C |
c.1878+1G>C
|
p.?
|
- | 3.5 |
|
B | |
| 7241 | chr8 | 68083292 | T | G |
c.1931T>G
|
p.Val644Gly
|
- | 3.0 |
|
B | |
| 1231 | chr8 | 68083334 | C | T |
c.1973C>T
|
p.Ser658Leu
|
3.0 |
|
B | ||
| 27451 | chr8 | 68083387 | G | A |
c.2026G>A
|
p.Glu676Lys
|
- | 3.0 |
|
B | |
| 34255 | chr8 | 68087761 | T | G |
c.2065T>G
|
p.Phe689Val
|
- | 3.0 |
|
B | |
| 25949 | chr8 | 68087771 | G | T |
c.2075G>T
|
p.Arg692Leu
|
- | 3.0 |
|
B | |
| 12820 | chr8 | 68087814 | G | A |
c.2113+5G>A
|
-
|
- | 3.0 |
|
B | |
| 35415 | chr8 | 68087815 | A | G |
c.2113+6A>G
|
-
|
- | 3.0 |
|
B | |
| 14524 | chr8 | 68090704 | C | T |
c.2239C>T
|
p.Arg747Trp
|
3.0 |
|
B | ||
| 10983 | chr8 | 68090730 | A | G |
c.2250+15A>G
|
-
|
1.0 |
|
B | ||
| 24563 | chr8 | 68093612 | C | T |
c.2258C>T
|
p.Ser753Phe
|
- | 3.0 |
|
B | |
| 16499 | chr8 | 68093672 | C | T |
c.2318C>T
|
p.Ser773Phe
|
- | 3.0 |
|
B | |
| 10486 | chr8 | 68097087 | C | A |
c.2439C>A
|
p.Asp813Glu
|
- | 3.0 |
|
B | |
| 1786 | chr8 | 68097131 | C | A |
c.2483C>A
|
p.Thr828Lys
|
- | 3.0 |
|
B | |
| 5828 | chr8 | 68099766 | G | A |
c.2638G>A
|
p.Asp880Asn
|
3.0 |
|
B | ||
| 17743 | chr8 | 68108350 | C | G |
c.2938+19C>G
|
-
|
3.0 |
|
B |