Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35278 | chr1 | 202012620 | T | C |
c.479-20T>C
|
-
|
- | 3.0 |
|
B | |
| 11802 | chr1 | 202012630 | C | T |
c.479-10C>T
|
-
|
- | 3.0 |
|
B | |
| 7621 | chr1 | 202012634 | T | A |
c.479-6T>A
|
-
|
- | 3.0 |
|
B | |
| 9020 | chr1 | 202012646 | G | A |
c.485G>A
|
p.Gly162Asp
|
1.0 |
|
B | ||
| 24879 | chr1 | 202012674 | C | T |
c.513C>T
|
p.Asp171=
|
3.0 |
|
B | ||
| 2801 | chr1 | 202012706 | G | A |
c.545G>A
|
p.Gly182Asp
|
- | 3.0 |
|
B | |
| 25911 | chr1 | 202012723 | G | GCC |
c.566_567dup
|
p.Ser190ProfsTer65
|
- | 4.0 |
|
B | |
| 18205 | chr1 | 202012957 | T | A |
c.609T>A
|
p.Ala203=
|
- | 3.0 |
|
B | |
| 13387 | chr1 | 202013019 | G | GGATCAC |
c.671_672insGATCAC
|
p.Gly224_Lys225insIleThr
|
- | 3.5 |
|
B | |
| 6722 | chr1 | 202013203 | A | AG |
c.715dup
|
p.Asp239GlyfsTer62
|
- | 4.0 |
|
B | |
| 27445 | chr1 | 202013222 | G | A |
c.729G>A
|
p.Gly243=
|
- | 3.0 |
|
B | |
| 24024 | chr1 | 202013288 | G | GA |
c.796dup
|
p.Ser266LysfsTer35
|
- | 4.0 |
|
B | |
| 24876 | chr1 | 202013297 | C | T |
c.804C>T
|
p.His268=
|
3.0 |
|
B | ||
| 30069 | chr1 | 202013813 | G | A |
c.806-16G>A
|
-
|
- | 3.0 |
|
B | |
| 23151 | chr1 | 202013838 | G | GCACC |
c.820_823dup
|
p.Leu275ProfsTer27
|
- | 4.0 |
|
B | |
| 112 | chr1 | 202013851 | G | A |
c.828G>A
|
p.Trp276Ter
|
- | 4.33 |
|
A | |
| 6679 | chr1 | 202013872 | C | CGG |
c.849_850insGG
|
p.Ile284GlyfsTer11
|
- | 4.0 |
|
B | |
| 2466 | chr1 | 202013874 | TC | T |
c.853del
|
p.His285ThrfsTer9
|
- | 4.0 |
|
B | |
| 31808 | chr1 | 202013921 | G | GA |
c.900dup
|
p.Gly301ArgfsTer170
|
- | 4.0 |
|
B | |
| 3972 | chr1 | 202013930 | T | A |
c.907T>A
|
p.Phe303Ile
|
- | 3.0 |
|
B |