Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10009 | chr19 | 1221315 | C | CCCGG |
c.839_840insGGCC
|
p.Pro281AlafsTer5
|
- | 4.0 |
|
B | |
| 15214 | chr19 | 1221326 | C | T |
c.848C>T
|
p.Ser283Phe
|
3.0 |
|
B | ||
| 20255 | chr19 | 1221931 | T | C |
c.863-18T>C
|
-
|
- | 3.0 |
|
B | |
| 17513 | chr19 | 1221946 | C | T |
c.863-3C>T
|
-
|
2.5 |
|
B | ||
| 6411 | chr19 | 1221949 | G | T |
c.863G>T
|
p.Gly288Val
|
- | 3.0 |
|
B | |
| 33509 | chr19 | 1221963 | G | T |
c.877G>T
|
p.Glu293Ter
|
5.0 |
|
B | ||
| 2056 | chr19 | 1221976 | G | A |
c.890G>A
|
p.Arg297Lys
|
3.5 |
|
B | ||
| 721 | chr19 | 1221982 | C | T |
c.896C>T
|
p.Ser299Phe
|
- | 3.0 |
|
B | |
| 13175 | chr19 | 1221995 | C | G |
c.909C>G
|
p.Ile303Met
|
- | 3.0 |
|
B | |
| 30518 | chr19 | 1222978 | TTTGCAGC | T |
c.921-5_922del
|
p.?
|
- | 4.0 |
|
B | |
| 12000 | chr19 | 1222988 | G | T |
c.924G>T
|
p.Trp308Cys
|
- | 3.5 |
|
B | |
| 21919 | chr19 | 1223060 | G | A |
c.996G>A
|
p.Trp332Ter
|
4.0 |
|
B | ||
| 21559 | chr19 | 1223061 | C | T |
c.997C>T
|
p.Arg333Cys
|
3.0 |
|
B | ||
| 10105 | chr19 | 1223071 | CTG | C |
c.1010_1011del
|
p.Val337GlyfsTer22
|
- | 4.5 |
|
B | |
| 24131 | chr19 | 1223171 | C | T |
c.1107C>T
|
p.Pro369=
|
2.0 |
|
B | ||
| 14993 | chr19 | 1223623 | G | A |
-
c.1108+451G>A
|
-
-
|
3.0 |
|
B | ||
| 29859 | chr19 | 1223632 | C | T |
-
c.1108+460C>T
|
-
-
|
2.0 |
|
B | ||
| 12932 | chr19 | 1226627 | T | G |
-
c.1282T>G
|
-
p.Ser428Ala
|
- | 3.0 |
|
B | |
| 33409 | chr19 | 1227698 | C | G |
-
c.*122C>G
|
-
-
|
- | 3.0 |
|
B | |
| 3728 | chr19 | 1555619 | G | A |
c.1900C>T
|
p.Pro634Ser
|
3.0 |
|
B |