Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20049 | chr8 | 102289433 | T | A |
c.4713+20A>T
|
-
|
- | 3.0 |
|
B | |
| 16298 | chr8 | 102289527 | G | A |
c.4639C>T
|
p.Arg1547Cys
|
3.0 |
|
B | ||
| 34148 | chr8 | 102289574 | G | C |
c.4592C>G
|
p.Ser1531Cys
|
3.0 |
|
B | ||
| 27646 | chr8 | 102293945 | G | A |
c.4349+10C>T
|
-
|
- | 3.0 |
|
B | |
| 17549 | chr8 | 102294105 | GTATC | G |
c.4195_4198del
|
p.Asp1399LeufsTer3
|
- | 3.0 |
|
B | |
| 4428 | chr8 | 102294998 | C | T |
c.4172G>A
|
p.Cys1391Tyr
|
- | 3.0 |
|
B | |
| 22891 | chr8 | 102295316 | C | T |
c.3946G>A
|
p.Asp1316Asn
|
- | 3.0 |
|
B | |
| 31362 | chr8 | 102295434 | C | A |
c.3911G>T
|
p.Arg1304Leu
|
- | 3.0 |
|
B | |
| 18034 | chr8 | 102295522 | G | A |
c.3823C>T
|
p.Leu1275Phe
|
- | 3.0 |
|
B | |
| 25697 | chr8 | 102299439 | T | G |
c.3202+13A>C
|
-
|
1.0 |
|
B | ||
| 585 | chr8 | 102300118 | C | G |
c.2988G>C
|
p.Leu996Phe
|
- | 3.0 |
|
B | |
| 4958 | chr8 | 102305243 | T | C |
c.2669A>G
|
p.Gln890Arg
|
- | 3.0 |
|
B | |
| 9200 | chr8 | 102312194 | G | C |
c.2203C>G
|
p.Pro735Ala
|
- | 3.0 |
|
B | |
| 21759 | chr8 | 102314819 | T | C |
c.1819A>G
|
p.Met607Val
|
- | 3.0 |
|
B | |
| 29252 | chr8 | 102327722 | C | T |
c.1481+20G>A
|
-
|
- | 3.0 |
|
B | |
| 21401 | chr8 | 102329313 | C | A |
c.1185G>T
|
p.Trp395Cys
|
- | 3.0 |
|
B | |
| 14336 | chr8 | 102342626 | T | A |
c.945A>T
|
p.Leu315Phe
|
- | 3.0 |
|
B | |
| 10753 | chr8 | 102346223 | G | T |
c.736+13C>A
|
-
|
- | 3.0 |
|
B | |
| 34841 | chr8 | 102346319 | A | G |
c.653T>C
|
p.Leu218Pro
|
- | 3.0 |
|
B | |
| 15770 | chr8 | 102346356 | T | C |
c.616A>G
|
p.Ile206Val
|
- | 3.0 |
|
B |