Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25272 | chr19 | 40398825 | G | A |
c.185-9C>T
|
-
|
2.0 |
|
B | ||
| 2193 | chr19 | 40403786 | G | A |
c.104C>T
|
p.Ala35Val
|
3.0 |
|
B | ||
| 23109 | chr19 | 40407980 | C | T |
c.-48G>A
|
-
|
3.0 |
|
B | ||
| 23702 | chr19 | 40800618 | C | T |
c.46C>T
-
|
p.Gln16Ter
-
|
- | 3.0 |
|
B | |
| 15998 | chr19 | 40801185 | C | T |
c.613C>T
-
|
p.Arg205Cys
-
|
3.0 |
|
B | ||
| 12109 | chr19 | 40807819 | G | C |
c.1179G>C
|
p.Gln393His
|
- | 3.0 |
|
B | |
| 29068 | chr19 | 41009358 | A | G |
c.785A>G
|
p.Lys262Arg
|
1.0 |
|
B | ||
| 1109 | chr19 | 41220628 | C | T |
c.86-8C>T
|
-
|
3.0 |
|
B | ||
| 4269 | chr19 | 41220692 | C | T |
c.142C>T
|
p.Arg48Trp
|
3.0 |
|
B | ||
| 5620 | chr19 | 41220757 | G | T |
c.207G>T
|
p.Trp69Cys
|
3.0 |
|
B | ||
| 32734 | chr19 | 41220857 | A | C |
c.307A>C
|
p.Arg103=
|
- | 3.0 |
|
B | |
| 22963 | chr19 | 41220874 | C | A |
c.308+16C>A
|
-
|
- | 3.0 |
|
B | |
| 26835 | chr19 | 41220874 | C | T |
c.308+16C>T
|
-
|
- | 3.0 |
|
B | |
| 5889 | chr19 | 41221160 | A | T |
c.323A>T
|
p.Gln108Leu
|
- | 3.0 |
|
B | |
| 34653 | chr19 | 41221243 | G | C |
c.406G>C
|
p.Glu136Gln
|
- | 3.0 |
|
B | |
| 29422 | chr19 | 41222029 | G | A |
c.559G>A
|
p.Gly187Ser
|
3.0 |
|
B | ||
| 7577 | chr19 | 41222065 | G | A |
c.586+9G>A
|
-
|
3.0 |
|
B | ||
| 33296 | chr19 | 41231218 | T | A |
c.703T>A
|
p.Ser235Thr
|
- | 3.0 |
|
B | |
| 16852 | chr19 | 41231313 | C | T |
c.783+15C>T
|
-
|
- | 3.0 |
|
B | |
| 16989 | chr19 | 41238027 | G | GC |
c.874dup
|
p.His292ProfsTer47
|
3.0 |
|
B |