Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8751 | chr8 | 41977259 | G | T |
c.1112C>A
|
p.Ser371Tyr
|
- | 2.5 |
|
B | |
| 4975 | chr8 | 41977302 | G | A |
c.1069C>T
|
p.Arg357Ter
|
3.0 |
|
B | ||
| 30610 | chr8 | 41977346 | G | A |
c.1044-19C>T
|
-
|
3.0 |
|
B | ||
| 27434 | chr8 | 41978691 | T | C |
c.994A>G
|
p.Thr332Ala
|
3.0 |
|
B | ||
| 13060 | chr8 | 41980917 | A | G |
c.836T>C
|
p.Leu279Pro
|
- | 3.0 |
|
B | |
| 22890 | chr8 | 41980947 | A | G |
c.826-20T>C
|
-
|
3.0 |
|
B | ||
| 2047 | chr8 | 41987469 | T | C |
c.695A>G
|
p.Asp232Gly
|
- | 3.0 |
|
B | |
| 24999 | chr8 | 42048508 | TGGCCAATGGCAC | T |
c.458_469del
|
p.Arg153_Gly156del
|
- | 3.0 |
|
B | |
| 2171 | chr8 | 42048665 | G | A |
c.313C>T
|
p.Arg105Trp
|
2.5 |
|
B | ||
| 3423 | chr8 | 42048726 | C | A |
c.252G>T
|
p.Lys84Asn
|
3.0 |
|
B | ||
| 24098 | chr8 | 42048927 | G | C |
c.51C>G
|
p.Ile17Met
|
- | 3.0 |
|
B | |
| 3662 | chr8 | 42182744 | C | A |
c.778G>T
|
p.Gly260Cys
|
- | 3.0 |
|
B | |
| 3775 | chr8 | 42182746 | A | T |
c.776T>A
|
p.Leu259Gln
|
- | 3.0 |
|
B | |
| 8435 | chr8 | 42272102 | T | G |
c.2T>G
|
p.Met1?
|
3.0 |
|
B | ||
| 10738 | chr8 | 42305252 | G | A |
c.454G>A
|
p.Val152Ile
|
- | 3.0 |
|
B | |
| 7875 | chr8 | 42309016 | C | T |
c.683C>T
|
p.Pro228Leu
|
- | 3.0 |
|
B | |
| 678 | chr8 | 42314435 | G | T |
c.800+6G>T
|
-
|
- | 3.0 |
|
B | |
| 30548 | chr8 | 42314442 | G | A |
c.800+13G>A
|
-
|
2.0 |
|
B | ||
| 12565 | chr8 | 42316338 | A | G |
c.929A>G
|
p.Lys310Arg
|
- | 3.0 |
|
B | |
| 12566 | chr8 | 42316339 | G | T |
c.930G>T
|
p.Lys310Asn
|
- | 3.0 |
|
B |