Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18864 | chr8 | 47960109 | G | A |
c.18C>T
-
|
p.Ala6=
-
|
2.0 |
|
B | ||
| 8688 | chr8 | 47960117 | AGCC | A |
c.7_9del
-
|
p.Gly3del
-
|
- | 3.0 |
|
B | |
| 11214 | chr8 | 52656937 | C | G |
c.2892G>C
|
p.Lys964Asn
|
- | 3.0 |
|
B | |
| 11215 | chr8 | 52657265 | A | G |
c.2564T>C
|
p.Leu855Pro
|
- | 3.0 |
|
B | |
| 21622 | chr8 | 53970399 | C | T |
c.890G>A
|
p.Arg297Gln
|
- | 3.0 |
|
B | |
| 15964 | chr8 | 53979105 | G | A |
c.745C>T
|
p.Gln249Ter
|
- | 3.0 |
|
B | |
| 19272 | chr8 | 53979159 | C | G |
c.691G>C
|
p.Asp231His
|
- | 3.0 |
|
B | |
| 23137 | chr8 | 53987043 | G | A |
c.467-18C>T
|
-
|
- | 3.0 |
|
B | |
| 29706 | chr8 | 53993772 | C | T |
c.233-17G>A
|
-
|
- | 3.0 |
|
B | |
| 23581 | chr8 | 54022093 | C | T |
c.33G>A
|
p.Lys11=
|
- | 3.0 |
|
B | |
| 19531 | chr8 | 54458135 | C | T |
c.-4C>T
|
-
|
- | 3.0 |
|
B | |
| 11574 | chr8 | 54458255 | C | T |
c.117C>T
|
p.Ile39=
|
2.5 |
|
B | ||
| 563 | chr8 | 54458305 | C | T |
c.167C>T
|
p.Ala56Val
|
- | 3.0 |
|
B | |
| 22555 | chr8 | 54458345 | G | T |
c.207G>T
|
p.Arg69=
|
- | 3.0 |
|
B | |
| 8169 | chr8 | 54458409 | C | T |
c.271C>T
|
p.Pro91Ser
|
- | 3.0 |
|
B | |
| 8718 | chr8 | 54459067 | G | T |
c.317G>T
|
p.Trp106Leu
|
- | 3.0 |
|
B | |
| 28637 | chr8 | 54459166 | C | T |
c.416C>T
|
p.Pro139Leu
|
- | 3.0 |
|
B | |
| 8729 | chr8 | 54459169 | G | T |
c.419G>T
|
p.Arg140Leu
|
- | 3.0 |
|
B | |
| 21623 | chr8 | 54459186 | A | G |
c.436A>G
|
p.Lys146Glu
|
- | 3.0 |
|
B | |
| 14129 | chr8 | 54459253 | G | A |
c.503G>A
|
p.Gly168Asp
|
- | 3.0 |
|
B |