Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10218 | chr19 | 38527639 | C | T |
c.10687-8C>T
|
-
|
2.0 |
|
B | ||
| 8195 | chr19 | 38527650 | G | A |
c.10690G>A
|
p.Glu3564Lys
|
- | 3.0 |
|
B | |
| 10812 | chr19 | 38527728 | G | A |
c.10768G>A
|
p.Glu3590Lys
|
2.5 |
|
B | ||
| 26834 | chr19 | 38527803 | G | A |
c.10824+19G>A
|
-
|
2.5 |
|
B | ||
| 11202 | chr19 | 38528364 | G | A |
c.10883G>A
|
p.Arg3628His
|
3.0 |
|
B | ||
| 20175 | chr19 | 38528591 | C | T |
c.10938-8C>T
|
-
|
2.0 |
|
B | ||
| 35063 | chr19 | 38532683 | G | T |
c.11206G>T
|
p.Glu3736Ter
|
- | 3.0 |
|
B | |
| 26235 | chr19 | 38532686 | G | A |
c.11209G>A
|
p.Glu3737Lys
|
- | 3.0 |
|
B | |
| 11061 | chr19 | 38532722 | G | A |
c.11245G>A
|
p.Glu3749Lys
|
- | 3.0 |
|
B | |
| 14361 | chr19 | 38534777 | G | A |
c.11317G>A
|
p.Gly3773Arg
|
3.0 |
|
B | ||
| 16627 | chr19 | 38535133 | C | T |
c.11360-8C>T
|
-
|
- | 2.5 |
|
B | |
| 18906 | chr19 | 38535195 | A | C |
c.11414A>C
|
p.Asn3805Thr
|
- | 3.0 |
|
B | |
| 15481 | chr19 | 38535405 | G | A |
c.11516+13G>A
|
-
|
- | 3.0 |
|
B | |
| 8795 | chr19 | 38535992 | C | T |
c.11517-5C>T
|
-
|
- | 2.5 |
|
B | |
| 28564 | chr19 | 38536749 | G | T |
c.11591-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 8413 | chr19 | 38536766 | C | T |
c.11607C>T
|
p.Asn3869=
|
2.5 |
|
B | ||
| 14656 | chr19 | 38536787 | C | T |
c.11608+20C>T
|
-
|
2.5 |
|
B | ||
| 21062 | chr19 | 38537875 | C | A |
c.11609-5C>A
|
-
|
- | 3.0 |
|
B | |
| 9048 | chr19 | 38543873 | C | G |
c.12010C>G
|
p.Gln4004Glu
|
3.0 |
|
B | ||
| 17599 | chr19 | 38548233 | G | A |
c.12095G>A
|
p.Gly4032Glu
|
- | 3.0 |
|
B |