Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26929 | chr8 | 40013659 | A | C |
c.814A>C
|
p.Thr272Pro
|
- | 3.0 |
|
B | |
| 23358 | chr8 | 40015541 | T | G |
c.1163T>G
|
p.Met388Arg
|
3.0 |
|
B | ||
| 19877 | chr8 | 40154248 | CTTTTT | C |
c.*407_*411del
|
-
|
- | 3.0 |
|
B | |
| 24661 | chr8 | 41655743 | G | T |
c.*47C>A
-
|
-
-
|
- | 3.5 |
|
B | |
| 25632 | chr8 | 41661517 | C | T |
c.5592G>A
|
p.Arg1864=
|
3.0 |
|
B | ||
| 26042 | chr8 | 41661791 | G | A |
c.5544+85C>T
|
-
|
2.5 |
|
B | ||
| 26093 | chr8 | 41661842 | C | T |
c.5544+34G>A
|
-
|
- | 3.0 |
|
B | |
| 18309 | chr8 | 41661852 | C | T |
c.5544+24G>A
|
-
|
- | 3.0 |
|
B | |
| 15818 | chr8 | 41661915 | T | C |
c.5505A>G
|
p.Ile1835Met
|
- | 3.0 |
|
B | |
| 26710 | chr8 | 41661934 | C | T |
c.5486G>A
|
p.Arg1829His
|
3.0 |
|
B | ||
| 16426 | chr8 | 41665003 | C | A |
c.5395-1261G>T
|
-
|
- | 3.0 |
|
B | |
| 14154 | chr8 | 41668320 | C | A |
c.5341G>T
|
p.Gly1781Cys
|
3.0 |
|
B | ||
| 30753 | chr8 | 41672709 | C | T |
c.4741G>A
|
p.Glu1581Lys
|
- | 3.0 |
|
B | |
| 16599 | chr8 | 41686224 | G | A |
c.4318C>T
|
p.Pro1440Ser
|
- | 3.0 |
|
B | |
| 29921 | chr8 | 41688555 | G | A |
c.4139C>T
|
p.Thr1380Met
|
3.0 |
|
B | ||
| 31106 | chr8 | 41690227 | C | T |
c.4104G>A
|
p.Lys1368=
|
- | 3.0 |
|
B | |
| 27150 | chr8 | 41690238 | G | A |
c.4093C>T
|
p.Pro1365Ser
|
3.0 |
|
B | ||
| 27948 | chr8 | 41690503 | G | A |
c.3955C>T
|
p.Arg1319Trp
|
3.0 |
|
B | ||
| 24229 | chr8 | 41692665 | G | A |
c.3841C>T
|
p.Arg1281Trp
|
3.0 |
|
B | ||
| 23359 | chr8 | 41692687 | A | C |
c.3819T>G
|
p.His1273Gln
|
- | 3.0 |
|
B |