Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12734 | chr8 | 56166590 | G | A |
c.1156C>T
|
p.Pro386Ser
|
3.0 |
|
B | ||
| 21120 | chr8 | 56166601 | A | T |
c.1145T>A
|
p.Leu382Gln
|
- | 3.0 |
|
B | |
| 21889 | chr8 | 56166974 | C | T |
c.772G>A
|
p.Val258Met
|
3.0 |
|
B | ||
| 27256 | chr8 | 56167184 | C | T |
c.562G>A
|
p.Glu188Lys
|
3.0 |
|
B | ||
| 30908 | chr8 | 56167268 | C | A |
c.478G>T
|
p.Glu160Ter
|
- | 3.0 |
|
B | |
| 19200 | chr8 | 56167403 | C | T |
c.343G>A
|
p.Asp115Asn
|
3.0 |
|
B | ||
| 25585 | chr8 | 56167452 | C | G |
c.294G>C
|
p.Glu98Asp
|
- | 3.0 |
|
B | |
| 24698 | chr8 | 56167496 | C | T |
c.250G>A
|
p.Ala84Thr
|
- | 3.0 |
|
B | |
| 35134 | chr8 | 56168136 | C | T |
c.134G>A
|
p.Ser45Asn
|
- | 3.0 |
|
B | |
| 16761 | chr8 | 56216510 | C | G |
c.132C>G
|
p.Tyr44Ter
|
- | 3.0 |
|
B | |
| 27777 | chr8 | 56216515 | A | G |
c.137A>G
|
p.Asn46Ser
|
- | 3.0 |
|
B | |
| 3424 | chr8 | 56316137 | C | T |
c.211G>A
|
p.Asp71Asn
|
3.0 |
|
B | ||
| 4692 | chr8 | 61553033 | C | T |
c.1624G>A
|
p.Glu542Lys
|
- | 3.0 |
|
B | |
| 20231 | chr8 | 61689736 | CAA | C |
c.104-5550_104-5549del
|
-
|
- | 3.0 |
|
B | |
| 7854 | chr8 | 67952362 | CGGGCAGCGCCGCGCTGCGCACCGCCGCCGA | C |
c.-32_-3del
|
-
|
- | 3.0 |
|
B | |
| 7855 | chr8 | 67952393 | C | T |
c.-2C>T
|
-
|
- | 3.0 |
|
B | |
| 33238 | chr8 | 67952410 | C | A |
c.16C>A
|
p.Arg6Ser
|
- | 3.0 |
|
B | |
| 7785 | chr8 | 67952494 | A | C |
c.100A>C
|
p.Thr34Pro
|
- | 3.0 |
|
B | |
| 16656 | chr8 | 67952500 | C | A |
c.106C>A
|
p.Arg36=
|
- | 3.0 |
|
B | |
| 34024 | chr8 | 67952541 | T | C |
c.141+6T>C
|
-
|
- | 3.0 |
|
B |