Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4318 | chr4 | 186618796 | C | T |
c.7790G>A
|
p.Arg2597Gln
|
3.0 |
|
B | ||
| 787 | chr4 | 186618887 | G | A |
c.7699C>T
|
p.Arg2567Cys
|
2.5 |
|
B | ||
| 19990 | chr4 | 186619480 | G | A |
c.7106C>T
|
p.Thr2369Met
|
3.0 |
|
B | ||
| 13330 | chr4 | 186619528 | G | A |
c.7058C>T
|
p.Ser2353Phe
|
- | 3.0 |
|
B | |
| 33069 | chr4 | 186619598 | G | T |
c.6988C>A
|
p.His2330Asn
|
- | 3.0 |
|
B | |
| 24349 | chr4 | 186619613 | TCCCAAACATCTGGTATGAGATTCCTCTATTTGGTTCTG | T |
c.6935_6972del
|
p.Ser2312Ter
|
- | 4.0 |
|
B | |
| 21252 | chr4 | 186619924 | C | T |
c.6662G>A
|
p.Gly2221Glu
|
- | 3.0 |
|
B | |
| 13450 | chr4 | 186620197 | C | T |
c.6389G>A
|
p.Gly2130Glu
|
3.0 |
|
B | ||
| 31896 | chr4 | 186620438 | C | T |
c.6148G>A
|
p.Val2050Ile
|
- | 3.0 |
|
B | |
| 27346 | chr4 | 186620660 | G | A |
c.5926C>T
|
p.His1976Tyr
|
- | 3.0 |
|
B | |
| 5763 | chr4 | 186620773 | A | T |
c.5813T>A
|
p.Val1938Asp
|
- | 3.0 |
|
B | |
| 20595 | chr4 | 186621122 | TAGCAA | T |
c.5459_5463del
|
p.Phe1820TyrfsTer2
|
- | 4.0 |
|
B | |
| 5291 | chr4 | 186621164 | C | T |
c.5422G>A
|
p.Val1808Ile
|
3.0 |
|
B | ||
| 15447 | chr4 | 186621206 | T | TG |
c.5379_5380insC
|
p.Ile1794HisfsTer5
|
- | 4.0 |
|
B | |
| 10767 | chr4 | 186621359 | C | T |
c.5227G>A
|
p.Ala1743Thr
|
- | 3.0 |
|
B | |
| 11811 | chr4 | 186621698 | G | A |
c.4888C>T
|
p.Gln1630Ter
|
4.0 |
|
B | ||
| 16080 | chr4 | 186628270 | GAAGCGGTGA | G |
c.4685_4693del
|
p.Phe1562_Ala1564del
|
- | 3.0 |
|
B | |
| 213 | chr4 | 186628711 | G | C |
c.4376C>G
|
p.Ser1459Ter
|
4.67 |
|
A | ||
| 18089 | chr4 | 186633683 | C | T |
c.4323+1G>A
|
p.?
|
4.0 |
|
B | ||
| 5292 | chr4 | 186633813 | G | A |
c.4194C>T
|
p.Tyr1398=
|
2.5 |
|
B |