Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10863 | chr3 | 177050466 | T | G |
c.560+12A>C
|
-
|
- | 3.0 |
|
B | |
| 12520 | chr3 | 177050487 | A | C |
c.551T>G
|
p.Leu184Arg
|
- | 3.0 |
|
B | |
| 27541 | chr3 | 177051486 | A | T |
c.427+18T>A
|
-
|
3.0 |
|
B | ||
| 19425 | chr3 | 177051553 | AT | A |
c.377del
|
p.Asn126MetfsTer16
|
- | 3.0 |
|
B | |
| 28509 | chr3 | 177051589 | G | C |
c.342C>G
|
p.Ala114=
|
- | 2.0 |
|
B | |
| 17095 | chr3 | 177051634 | A | C |
c.297T>G
|
p.Tyr99Ter
|
- | 3.0 |
|
B | |
| 12809 | chr3 | 177051704 | C | T |
c.227G>A
|
p.Arg76Gln
|
- | 3.0 |
|
B | |
| 28978 | chr3 | 177053910 | G | A |
c.67C>T
|
p.His23Tyr
|
- | 3.0 |
|
B | |
| 19426 | chr3 | 177064914 | A | G |
c.58+6T>C
|
-
|
- | 3.0 |
|
B | |
| 30825 | chr3 | 177064932 | A | C |
c.46T>G
|
p.Leu16Val
|
- | 3.0 |
|
B | |
| 47 | chr3 | 179198826 | A | G |
c.1A>G
|
p.Met1?
|
3.0 |
|
A | ||
| 28017 | chr3 | 179198836 | G | A |
c.11G>A
|
p.Arg4Gln
|
3.0 |
|
B | ||
| 33916 | chr3 | 179198848 | G | A |
c.23G>A
|
p.Gly8Asp
|
- | 3.0 |
|
B | |
| 2942 | chr3 | 179198856 | T | G |
c.31T>G
|
p.Trp11Gly
|
- | 3.0 |
|
B | |
| 15667 | chr3 | 179198858 | G | A |
c.33G>A
|
p.Trp11Ter
|
- | 3.0 |
|
B | |
| 16707 | chr3 | 179198881 | G | A |
c.56G>A
|
p.Arg19Lys
|
- | 3.0 |
|
B | |
| 32297 | chr3 | 179198902 | T | C |
c.77T>C
|
p.Leu26Pro
|
- | 3.0 |
|
B | |
| 32412 | chr3 | 179198937 | C | T |
c.112C>T
|
p.Arg38Cys
|
4.5 |
|
B | ||
| 32140 | chr3 | 179198938 | G | A |
c.113G>A
|
p.Arg38His
|
4.0 |
|
B | ||
| 35305 | chr3 | 179198940 | G | A |
c.115G>A
|
p.Glu39Lys
|
- | 4.0 |
|
B |