Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32463 | chr8 | 68017839 | C | T |
c.142-7C>T
|
-
|
3.0 |
|
B | ||
| 9437 | chr8 | 68017847 | C | A |
c.143C>A
|
p.Ala48Glu
|
- | 3.0 |
|
B | |
| 7179 | chr8 | 68017852 | T | G |
c.148T>G
|
p.Leu50Val
|
- | 3.0 |
|
B | |
| 13303 | chr8 | 68017885 | G | T |
c.181G>T
|
p.Val61Phe
|
- | 3.0 |
|
B | |
| 27350 | chr8 | 68019549 | ATGT | A |
c.219_221del
|
p.Leu73del
|
- | 3.0 |
|
B | |
| 11859 | chr8 | 68019606 | G | A |
c.271G>A
|
p.Val91Met
|
3.0 |
|
B | ||
| 23497 | chr8 | 68019659 | C | A |
c.324C>A
|
p.Cys108Ter
|
- | 3.0 |
|
B | |
| 1149 | chr8 | 68019663 | C | T |
c.328C>T
|
p.Leu110Phe
|
- | 3.0 |
|
B | |
| 10916 | chr8 | 68022091 | A | C |
c.392A>C
|
p.Lys131Thr
|
3.0 |
|
B | ||
| 11548 | chr8 | 68027275 | T | A |
c.495T>A
|
p.Tyr165Ter
|
- | 3.0 |
|
B | |
| 7445 | chr8 | 68030496 | G | C |
c.544-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 17874 | chr8 | 68030533 | T | A |
c.580T>A
|
p.Tyr194Asn
|
- | 3.0 |
|
B | |
| 6079 | chr8 | 68030590 | G | A |
c.637G>A
|
p.Glu213Lys
|
3.0 |
|
B | ||
| 1809 | chr8 | 68038166 | A | C |
c.713A>C
|
p.Asn238Thr
|
- | 3.0 |
|
B | |
| 17742 | chr8 | 68038217 | T | G |
c.764T>G
|
p.Ile255Ser
|
- | 3.0 |
|
B | |
| 16600 | chr8 | 68038252 | C | T |
c.799C>T
|
p.Leu267Phe
|
3.0 |
|
B | ||
| 34338 | chr8 | 68038301 | C | T |
c.839+9C>T
|
-
|
- | 3.0 |
|
B | |
| 2576 | chr8 | 68044537 | G | A |
c.890G>A
|
p.Arg297His
|
3.5 |
|
B | ||
| 32497 | chr8 | 68044591 | G | T |
c.943+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 15915 | chr8 | 68044605 | G | A |
c.943+15G>A
|
-
|
- | 3.0 |
|
B |