Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1733 | chr19 | 57873520 | G | A |
c.1870C>T
|
p.Arg624Cys
|
3.0 |
|
B | ||
| 16990 | chr19 | 57873577 | C | G |
c.1813G>C
|
p.Glu605Gln
|
3.0 |
|
B | ||
| 5286 | chr19 | 57873604 | G | A |
c.1786C>T
|
p.Arg596Cys
|
3.0 |
|
B | ||
| 16991 | chr19 | 57873930 | C | G |
c.1460G>C
|
p.Ser487Thr
|
3.0 |
|
B | ||
| 7388 | chr19 | 57874053 | C | T |
c.1337G>A
|
p.Ser446Asn
|
- | 3.0 |
|
B | |
| 7075 | chr19 | 57874171 | G | GT |
c.1218dup
|
p.His407ThrfsTer3
|
3.0 |
|
B | ||
| 19237 | chr19 | 57874178 | G | T |
c.1212C>A
|
p.Asp404Glu
|
3.0 |
|
B | ||
| 23191 | chr19 | 57874339 | G | GT |
c.1050dup
|
p.His351ThrfsTer3
|
3.0 |
|
B | ||
| 13107 | chr19 | 57874342 | T | G |
c.1048A>C
|
p.Lys350Gln
|
3.0 |
|
B | ||
| 13106 | chr19 | 57874507 | T | G |
c.883A>C
|
p.Lys295Gln
|
- | 3.0 |
|
B | |
| 13105 | chr19 | 57874644 | T | C |
c.746A>G
|
p.Lys249Arg
|
- | 3.0 |
|
B | |
| 28407 | chr19 | 57874800 | G | A |
c.590C>T
|
p.Ser197Leu
|
- | 3.0 |
|
B | |
| 29590 | chr19 | 57874913 | C | G |
c.477G>C
|
p.Lys159Asn
|
- | 3.0 |
|
B | |
| 11468 | chr19 | 57874918 | C | G |
c.472G>C
|
p.Ala158Pro
|
- | 3.0 |
|
B | |
| 6060 | chr19 | 57875094 | G | A |
c.296C>T
|
p.Pro99Leu
|
3.0 |
|
B | ||
| 24175 | chr19 | 57875204 | A | T |
c.186T>A
|
p.Asp62Glu
|
- | 3.0 |
|
B | |
| 24798 | chr19 | 57885953 | A | G |
c.36+2814T>C
|
-
|
3.0 |
|
B | ||
| 4781 | chr19 | 58396807 | G | A |
c.718G>A
-
|
p.Ala240Thr
-
|
3.0 |
|
B | ||
| 17121 | chr20 | 2483967 | G | A |
c.994C>T
|
p.Gln332Ter
|
- | 3.0 |
|
B | |
| 3751 | chr20 | 3671880 | C | T |
c.1703G>A
|
p.Gly568Glu
|
3.0 |
|
B |