Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28121 | chr8 | 47782386 | C | A |
c.11388G>T
|
p.Met3796Ile
|
- | 3.0 |
|
B | |
| 15296 | chr8 | 47782478 | G | A |
c.11296C>T
|
p.Gln3766Ter
|
- | 3.5 |
|
B | |
| 15297 | chr8 | 47782479 | C | A |
c.11295G>T
|
p.Glu3765Asp
|
- | 3.0 |
|
B | |
| 27050 | chr8 | 47782585 | G | A |
c.11189C>T
|
p.Ala3730Val
|
3.0 |
|
B | ||
| 28388 | chr8 | 47785147 | T | A |
c.11073A>T
|
p.Lys3691Asn
|
- | 3.0 |
|
B | |
| 11475 | chr8 | 47785199 | G | C |
c.11021C>G
|
p.Ser3674Ter
|
- | 3.5 |
|
B | |
| 33696 | chr8 | 47788993 | G | GT |
c.10814dup
|
p.Asn3605LysfsTer3
|
3.5 |
|
B | ||
| 1604 | chr8 | 47789145 | C | T |
c.10758+6G>A
|
-
|
- | 3.0 |
|
B | |
| 19271 | chr8 | 47789149 | A | T |
c.10758+2T>A
|
p.?
|
- | 3.5 |
|
B | |
| 8504 | chr8 | 47789176 | A | G |
c.10733T>C
|
p.Leu3578Pro
|
- | 3.0 |
|
B | |
| 8855 | chr8 | 47798253 | C | T |
c.10442G>A
|
p.Ser3481Asn
|
3.0 |
|
B | ||
| 7561 | chr8 | 47798313 | G | A |
c.10382C>T
|
p.Ala3461Val
|
- | 3.0 |
|
B | |
| 26261 | chr8 | 47798410 | C | T |
c.10298-13G>A
|
-
|
2.5 |
|
B | ||
| 27764 | chr8 | 47799233 | C | T |
c.10274G>A
|
p.Arg3425His
|
3.0 |
|
B | ||
| 28701 | chr8 | 47799393 | G | A |
c.10117-3C>T
|
-
|
- | 3.0 |
|
B | |
| 10585 | chr8 | 47800873 | C | A |
c.10036G>T
|
p.Ala3346Ser
|
- | 3.0 |
|
B | |
| 13842 | chr8 | 47800985 | A | C |
c.9924T>G
|
p.Asp3308Glu
|
- | 3.0 |
|
B | |
| 6298 | chr8 | 47803369 | G | A |
c.9859C>T
|
p.Arg3287Trp
|
3.0 |
|
B | ||
| 13883 | chr8 | 47803460 | C | T |
c.9768G>A
|
p.Met3256Ile
|
- | 3.0 |
|
B | |
| 24686 | chr8 | 47807144 | C | T |
c.9740G>A
|
p.Arg3247Gln
|
3.0 |
|
B |