Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19008 | chr8 | 144515092 | G | T |
c.1484-20C>A
-
-
|
-
-
-
|
- | 2.5 |
|
B | |
| 19009 | chr8 | 144515162 | G | A |
c.1471C>T
-
-
|
p.Arg491Trp
-
-
|
3.0 |
|
B | ||
| 18311 | chr8 | 144515352 | G | A |
c.1364C>T
-
-
|
p.Ser455Phe
-
-
|
3.0 |
|
B | ||
| 27977 | chr8 | 144515392 | C | T |
c.1324G>A
-
-
|
p.Glu442Lys
-
-
|
- | 3.0 |
|
B | |
| 10831 | chr8 | 144516158 | C | T |
c.961G>A
-
-
|
p.Gly321Arg
-
-
|
3.0 |
|
B | ||
| 33274 | chr8 | 144516208 | T | A |
c.911A>T
-
-
|
p.Gln304Leu
-
-
|
- | 3.0 |
|
B | |
| 21626 | chr8 | 144516328 | C | T |
c.791G>A
-
|
p.Trp264Ter
-
|
- | 3.5 |
|
B | |
| 21191 | chr8 | 144516334 | C | T |
c.785G>A
-
|
p.Arg262Gln
-
|
3.0 |
|
B | ||
| 34225 | chr8 | 144516335 | G | A |
c.784C>T
-
|
p.Arg262Trp
-
|
3.0 |
|
B | ||
| 14381 | chr8 | 144516511 | C | T |
c.608G>A
-
|
p.Gly203Glu
-
|
3.0 |
|
B | ||
| 603 | chr8 | 144516581 | T | G |
c.538A>C
-
|
p.Ser180Arg
-
|
- | 3.0 |
|
B | |
| 33697 | chr8 | 144516694 | G | A |
c.425C>T
-
|
p.Pro142Leu
-
|
3.0 |
|
B | ||
| 20065 | chr8 | 144516760 | C | A |
c.359G>T
-
|
p.Gly120Val
-
|
3.0 |
|
B | ||
| 10984 | chr8 | 144516772 | G | A |
c.355-8C>T
-
|
-
-
|
2.0 |
|
B | ||
| 19010 | chr8 | 144517079 | G | T |
c.325C>A
-
|
p.Leu109Ile
-
|
- | 3.0 |
|
B | |
| 8935 | chr8 | 144517492 | G | T |
c.135C>A
-
-
|
p.Tyr45Ter
-
-
|
- | 3.5 |
|
B | |
| 12822 | chr8 | 144517523 | G | A |
c.119-15C>T
-
-
|
-
-
-
|
2.5 |
|
B | ||
| 28908 | chr8 | 144517696 | C | T |
c.84+5G>A
-
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 3668 | chr8 | 144807286 | T | A |
c.370T>A
|
p.Trp124Arg
|
- | 3.0 |
|
B | |
| 3669 | chr8 | 144807289 | G | GGA |
c.374_375insAG
|
p.His126GlyfsTer101
|
- | 3.0 |
|
B |