Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23731 | chr8 | 92005128 | C | T |
c.728G>A
|
p.Arg243Gln
|
3.0 |
|
B | ||
| 4157 | chr8 | 92005144 | C | T |
c.712G>A
|
p.Glu238Lys
|
3.0 |
|
B | ||
| 4159 | chr8 | 92005153 | C | T |
c.703G>A
|
p.Asp235Asn
|
- | 3.0 |
|
B | |
| 22093 | chr8 | 92005163 | C | A |
c.693G>T
|
p.Glu231Asp
|
- | 3.0 |
|
B | |
| 27351 | chr8 | 92005213 | C | T |
c.643G>A
|
p.Glu215Lys
|
- | 3.0 |
|
B | |
| 13682 | chr8 | 92005291 | A | T |
c.565T>A
|
p.Leu189Met
|
- | 3.0 |
|
B | |
| 21971 | chr8 | 92010995 | G | A |
c.558+7C>T
|
-
|
- | 3.0 |
|
B | |
| 7809 | chr8 | 92011067 | A | T |
c.493T>A
|
p.Phe165Ile
|
- | 3.0 |
|
B | |
| 7140 | chr8 | 92011106 | A | T |
c.469-15T>A
|
-
|
- | 3.0 |
|
B | |
| 33908 | chr8 | 92011110 | A | T |
c.469-19T>A
|
-
|
- | 3.0 |
|
B | |
| 16601 | chr8 | 92014613 | C | T |
c.434G>A
|
p.Gly145Glu
|
- | 3.0 |
|
B | |
| 792 | chr8 | 92014749 | C | T |
c.298G>A
|
p.Gly100Arg
|
- | 3.0 |
|
B | |
| 24936 | chr8 | 92014825 | C | T |
c.227-5G>A
|
-
|
- | 3.0 |
|
B | |
| 5607 | chr8 | 92017292 | G | A |
c.160C>T
|
p.Pro54Ser
|
- | 3.0 |
|
B | |
| 8406 | chr8 | 92017361 | G | C |
c.91C>G
|
p.Arg31Gly
|
3.0 |
|
B | ||
| 25265 | chr8 | 92017370 | G | T |
c.89-7C>A
|
-
|
- | 3.0 |
|
B | |
| 2932 | chr8 | 92017405 | C | CA |
c.89-43dup
|
-
|
- | 3.0 |
|
B | |
| 1474 | chr8 | 92062712 | G | T |
c.88+13253C>A
|
-
|
- | 3.0 |
|
B | |
| 5854 | chr8 | 92075990 | T | G |
c.63A>C
|
p.Lys21Asn
|
- | 3.0 |
|
B | |
| 24937 | chr8 | 92076004 | C | A |
c.49G>T
|
p.Gly17Cys
|
- | 3.0 |
|
B |