Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14094 | chr8 | 108248673 | G | A |
c.30C>T
|
p.Ile10=
|
- | 3.0 |
|
B | |
| 24099 | chr8 | 108248685 | C | G |
c.18G>C
|
p.Leu6Phe
|
3.0 |
|
B | ||
| 3406 | chr8 | 109425164 | G | A |
c.2777G>A
|
p.Arg926Lys
|
- | 3.0 |
|
B | |
| 3429 | chr8 | 112829708 | C | T |
c.1837G>A
|
p.Asp613Asn
|
- | 3.0 |
|
B | |
| 8545 | chr8 | 116848934 | C | G |
c.1704+12G>C
|
-
|
3.0 |
|
B | ||
| 7828 | chr8 | 116848975 | T | A |
c.1675A>T
|
p.Arg559Trp
|
- | 3.0 |
|
B | |
| 29420 | chr8 | 116849013 | C | T |
c.1637G>A
|
p.Gly546Glu
|
- | 3.0 |
|
B | |
| 8632 | chr8 | 116850686 | C | T |
c.1552G>A
|
p.Glu518Lys
|
- | 3.0 |
|
B | |
| 2380 | chr8 | 116852024 | T | A |
c.1394A>T
|
p.Glu465Val
|
- | 3.0 |
|
B | |
| 34114 | chr8 | 116852113 | G | A |
c.1322-17C>T
|
-
|
3.0 |
|
B | ||
| 15543 | chr8 | 116856162 | T | A |
c.937+4A>T
|
-
|
- | 3.0 |
|
B | |
| 28357 | chr8 | 116856670 | T | C |
c.790A>G
|
p.Met264Val
|
- | 3.0 |
|
B | |
| 22673 | chr8 | 116866669 | C | T |
c.61G>A
|
p.Ala21Thr
|
- | 3.0 |
|
B | |
| 33330 | chr8 | 117799719 | C | T |
c.2234G>A
|
p.Arg745Gln
|
- | 3.0 |
|
B | |
| 10617 | chr8 | 117799731 | C | T |
c.2222G>A
|
p.Arg741Gln
|
- | 3.0 |
|
B | |
| 10726 | chr8 | 117799759 | G | A |
c.2194C>T
|
p.Gln732Ter
|
- | 3.5 |
|
B | |
| 3259 | chr8 | 117799852 | G | A |
c.2101C>T
|
p.Arg701Ter
|
4.5 |
|
B | ||
| 2591 | chr8 | 117804842 | C | CA |
c.1934dup
|
p.Met645IlefsTer9
|
- | 4.0 |
|
B | |
| 9742 | chr8 | 117804846 | T | A |
c.1931A>T
|
p.Asn644Ile
|
- | 3.0 |
|
B | |
| 16175 | chr8 | 117804882 | T | C |
c.1895A>G
|
p.Tyr632Cys
|
3.0 |
|
B |