Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10202 | chr8 | 42316869 | G | A |
c.1090G>A
|
p.Asp364Asn
|
3.0 |
|
B | ||
| 12452 | chr8 | 42316919 | C | T |
c.1125+15C>T
|
-
|
2.5 |
|
B | ||
| 26711 | chr8 | 42317653 | GCAGTTAAATGAGGGCCACA | G |
c.1126-1_1143del
|
p.?
|
- | 3.0 |
|
B | |
| 2715 | chr8 | 42320805 | G | T |
c.1649G>T
|
p.Ser550Ile
|
- | 3.0 |
|
B | |
| 19528 | chr8 | 42320857 | TG | T |
c.1688+19del
|
-
|
3.0 |
|
B | ||
| 843 | chr8 | 42321905 | A | C |
c.1698A>C
|
p.Gln566His
|
- | 3.0 |
|
B | |
| 9726 | chr8 | 42322139 | C | G |
c.1824C>G
|
p.Ile608Met
|
- | 3.0 |
|
B | |
| 27763 | chr8 | 42322456 | C | T |
c.1948C>T
|
p.Arg650Trp
|
- | 3.0 |
|
B | |
| 33496 | chr8 | 42322511 | G | T |
c.1986+17G>T
|
-
|
3.0 |
|
B | ||
| 33633 | chr8 | 42330971 | G | T |
c.2263G>T
|
p.Ala755Ser
|
2.0 |
|
B | ||
| 10640 | chr8 | 42331193 | C | T |
c.*214C>T
|
-
|
- | 3.0 |
|
B | |
| 16408 | chr8 | 42331210 | G | A |
c.*231G>A
|
-
|
3.0 |
|
B | ||
| 34337 | chr8 | 42331414 | C | T |
c.*435C>T
|
-
|
- | 3.0 |
|
B | |
| 35408 | chr8 | 42345013 | G | T |
c.180G>T
|
p.Lys60Asn
|
- | 3.0 |
|
B | |
| 3663 | chr8 | 43292587 | T | A |
c.103T>A
|
p.Cys35Ser
|
- | 3.0 |
|
B | |
| 28829 | chr8 | 47777822 | T | C |
c.11906A>G
|
p.Asn3969Ser
|
3.0 |
|
B | ||
| 33907 | chr8 | 47778521 | C | T |
c.11791G>A
|
p.Ala3931Thr
|
3.0 |
|
B | ||
| 17306 | chr8 | 47778651 | G | GA |
c.11660dup
|
p.Val3888ArgfsTer8
|
- | 3.5 |
|
B | |
| 11043 | chr8 | 47782253 | A | C |
c.11398T>G
|
p.Leu3800Val
|
- | 3.0 |
|
B | |
| 6393 | chr8 | 47782257 | G | A |
c.11397-3C>T
|
-
|
- | 3.0 |
|
B |