Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34773 | chr8 | 92076014 | A | T |
c.39T>A
|
p.Ser13Arg
|
- | 3.0 |
|
B | |
| 30853 | chr8 | 92076024 | C | T |
c.29G>A
|
p.Arg10Lys
|
3.0 |
|
B | ||
| 2470 | chr8 | 92095329 | C | T |
c.-86+7528G>A
|
-
|
3.0 |
|
B | ||
| 12371 | chr8 | 92095404 | C | A |
c.-86+7453G>T
|
-
|
3.0 |
|
B | ||
| 16972 | chr8 | 92102868 | C | T |
c.-97G>A
|
-
|
3.0 |
|
B | ||
| 16193 | chr8 | 94128314 | G | A |
c.2425C>T
|
p.Arg809Cys
|
3.0 |
|
B | ||
| 18127 | chr8 | 94130914 | C | T |
c.2246G>A
|
p.Gly749Glu
|
- | 3.0 |
|
B | |
| 32062 | chr8 | 94145967 | C | T |
c.2128G>A
|
p.Gly710Arg
|
- | 3.0 |
|
B | |
| 24616 | chr8 | 94146044 | C | T |
c.2051G>A
|
p.Gly684Glu
|
3.0 |
|
B | ||
| 16194 | chr8 | 94148844 | C | T |
c.1827G>A
|
p.Trp609Ter
|
- | 3.0 |
|
B | |
| 9946 | chr8 | 94148881 | C | T |
c.1797-7G>A
|
-
|
- | 3.0 |
|
B | |
| 11335 | chr8 | 94151865 | T | C |
c.1796+3A>G
|
-
|
- | 3.0 |
|
B | |
| 18128 | chr8 | 94151890 | C | T |
c.1774G>A
|
p.Asp592Asn
|
- | 3.0 |
|
B | |
| 11389 | chr8 | 94165988 | G | A |
-
|
-
|
-
|
- | 3.0 |
|
B |
| 22339 | chr8 | 94165996 | G | A |
c.1067-20C>T
|
-
|
3.0 |
|
B | ||
| 26568 | chr8 | 94170412 | C | T |
c.1051G>A
|
p.Glu351Lys
|
- | 3.0 |
|
B | |
| 11390 | chr8 | 94171002 | C | T |
c.784-17G>A
|
-
|
- | 3.0 |
|
B | |
| 15351 | chr8 | 94176534 | C | T |
c.424+7G>A
|
-
|
- | 3.0 |
|
B | |
| 14713 | chr8 | 94176658 | C | T |
c.307G>A
|
p.Gly103Arg
|
- | 3.0 |
|
B | |
| 31038 | chr8 | 94177727 | G | A |
c.151-6C>T
|
-
|
3.0 |
|
B |