Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19860 | chr2 | 102762122 | CTTT | C |
c.-82_-80del
|
-
|
3.0 |
|
B | ||
| 19876 | chr2 | 102762122 | CTTTT | C |
c.-83_-80del
|
-
|
3.0 |
|
B | ||
| 3616 | chr2 | 104856317 | GCAC | G |
c.829_831del
|
p.His277del
|
3.0 |
|
B | ||
| 17209 | chr2 | 106413150 | G | A |
c.5200C>T
|
p.Pro1734Ser
|
3.0 |
|
B | ||
| 25659 | chr2 | 106413222 | C | T |
c.5128G>A
|
p.Val1710Met
|
3.0 |
|
B | ||
| 24543 | chr2 | 106415921 | T | C |
c.4993A>G
|
p.Ser1665Gly
|
- | 3.0 |
|
B | |
| 18275 | chr2 | 106415984 | G | A |
c.4930C>T
|
p.Pro1644Ser
|
- | 3.0 |
|
B | |
| 16524 | chr2 | 106423075 | G | A |
c.4892C>T
|
p.Ser1631Leu
|
- | 3.0 |
|
B | |
| 17210 | chr2 | 106423078 | G | A |
c.4889C>T
|
p.Ser1630Phe
|
- | 3.0 |
|
B | |
| 20795 | chr2 | 106423085 | C | T |
c.4882G>A
|
p.Glu1628Lys
|
- | 3.0 |
|
B | |
| 22076 | chr2 | 106423310 | C | T |
c.4657G>A
|
p.Glu1553Lys
|
- | 3.0 |
|
B | |
| 35671 | chr2 | 106423829 | C | CA |
c.4137dup
|
p.Gly1380TrpfsTer2
|
- | 3.0 |
|
B | |
| 23032 | chr2 | 106423838 | T | C |
c.4129A>G
|
p.Arg1377Gly
|
- | 3.0 |
|
B | |
| 23324 | chr2 | 106424700 | T | A |
c.3267A>T
|
p.Lys1089Asn
|
- | 3.0 |
|
B | |
| 16144 | chr2 | 106424957 | A | C |
c.3010T>G
|
p.Phe1004Val
|
- | 3.0 |
|
B | |
| 34826 | chr2 | 106425077 | C | A |
c.2890G>T
|
p.Gly964Cys
|
- | 3.0 |
|
B | |
| 35435 | chr2 | 106425977 | A | G |
c.2700+17T>C
|
-
|
- | 3.0 |
|
B | |
| 30812 | chr2 | 106425984 | C | T |
c.2700+10G>A
|
-
|
3.0 |
|
B | ||
| 18276 | chr2 | 106426037 | G | A |
c.2657C>T
|
p.Ser886Phe
|
- | 3.0 |
|
B | |
| 23266 | chr2 | 106426091 | A | G |
c.2606-3T>C
|
-
|
3.0 |
|
B |