Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8173 | chr8 | 91970763 | C | T |
c.1434G>A
|
p.Met478Ile
|
- | 3.0 |
|
B | |
| 2240 | chr8 | 91970824 | C | T |
c.1373G>A
|
p.Arg458His
|
3.0 |
|
B | ||
| 16331 | chr8 | 91975925 | T | A |
c.1328A>T
|
p.Glu443Val
|
- | 3.0 |
|
B | |
| 16332 | chr8 | 91975947 | G | A |
c.1306C>T
|
p.Pro436Ser
|
3.0 |
|
B | ||
| 11413 | chr8 | 91986170 | G | T |
c.1233C>A
|
p.Ser411Arg
|
- | 3.0 |
|
B | |
| 35051 | chr8 | 91986196 | T | C |
c.1207A>G
|
p.Lys403Glu
|
- | 3.0 |
|
B | |
| 2005 | chr8 | 91986220 | G | A |
c.1183C>T
|
p.Arg395Trp
|
3.0 |
|
B | ||
| 33046 | chr8 | 91986246 | C | T |
c.1157G>A
|
p.Arg386Gln
|
3.0 |
|
B | ||
| 28638 | chr8 | 91986259 | G | T |
c.1144C>A
|
p.Gln382Lys
|
- | 3.0 |
|
B | |
| 16251 | chr8 | 91986274 | C | T |
c.1129G>A
|
p.Val377Ile
|
3.0 |
|
B | ||
| 18310 | chr8 | 91986298 | C | T |
c.1105G>A
|
p.Glu369Lys
|
- | 3.0 |
|
B | |
| 5074 | chr8 | 91986889 | G | T |
c.1075C>A
|
p.His359Asn
|
3.0 |
|
B | ||
| 23501 | chr8 | 91986935 | G | C |
c.1029C>G
|
p.His343Gln
|
- | 3.0 |
|
B | |
| 8463 | chr8 | 91986972 | C | G |
c.992G>C
|
p.Gly331Ala
|
- | 3.0 |
|
B | |
| 10855 | chr8 | 91986989 | G | T |
c.992-17C>A
|
-
|
- | 3.0 |
|
B | |
| 17790 | chr8 | 91991626 | C | T |
c.991+13G>A
|
-
|
- | 3.0 |
|
B | |
| 984 | chr8 | 91991672 | G | A |
c.958C>T
|
p.His320Tyr
|
3.0 |
|
B | ||
| 6299 | chr8 | 91991679 | G | T |
c.951C>A
|
p.His317Gln
|
- | 3.0 |
|
B | |
| 29343 | chr8 | 91991683 | C | T |
c.947G>A
|
p.Arg316Gln
|
3.0 |
|
B | ||
| 24935 | chr8 | 91991775 | C | A |
c.855G>T
|
p.Gln285His
|
- | 3.0 |
|
B |