Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2021 | chr15 | 90593638 | G | C |
c.234G>C
|
p.Pro78=
|
- | 3.0 |
|
B | |
| 12314 | chr15 | 90604451 | C | T |
c.476+4C>T
|
-
|
- | 3.0 |
|
B | |
| 28560 | chr15 | 90607374 | T | G |
c.477-4T>G
|
-
|
- | 3.0 |
|
B | |
| 7770 | chr15 | 90625787 | A | G |
c.761A>G
|
p.His254Arg
|
- | 3.0 |
|
B | |
| 18412 | chr15 | 90629359 | C | T |
c.1093C>T
|
p.Arg365Cys
|
3.0 |
|
B | ||
| 12918 | chr15 | 90629441 | C | T |
c.1175C>T
|
p.Pro392Leu
|
- | 3.0 |
|
B | |
| 32613 | chr15 | 90638639 | C | T |
c.1460C>T
|
p.Pro487Leu
|
3.0 |
|
B | ||
| 8978 | chr15 | 90641152 | C | T |
c.1604C>T
|
p.Pro535Leu
|
3.0 |
|
B | ||
| 10749 | chr15 | 90642118 | CG | C |
c.1839del
|
p.Arg615GlufsTer22
|
- | 3.0 |
|
B | |
| 35174 | chr15 | 90747376 | C | T |
c.-4-13C>T
|
-
|
- | 3.0 |
|
B | |
| 26974 | chr15 | 90747469 | G | T |
c.77G>T
|
p.Ser26Ile
|
- | 3.0 |
|
B | |
| 31925 | chr15 | 90749399 | A | T |
c.131A>T
|
p.Asp44Val
|
- | 3.0 |
|
B | |
| 7771 | chr15 | 90750008 | A | T |
c.740A>T
|
p.His247Leu
|
- | 3.0 |
|
B | |
| 1071 | chr15 | 90751876 | G | C |
c.889G>C
|
p.Asp297His
|
- | 3.0 |
|
B | |
| 13714 | chr15 | 90751925 | C | T |
c.938C>T
|
p.Ser313Phe
|
- | 3.0 |
|
B | |
| 19751 | chr15 | 90754794 | AT | A |
c.960-9del
|
-
|
2.5 |
|
B | ||
| 23081 | chr15 | 90760279 | G | A |
c.1220G>A
|
p.Arg407Lys
|
3.5 |
|
B | ||
| 17374 | chr15 | 90760749 | C | T |
c.1376C>T
|
p.Pro459Leu
|
3.0 |
|
B | ||
| 4996 | chr15 | 90760752 | CA | C |
c.1382del
|
p.Asn461IlefsTer10
|
- | 4.0 |
|
B | |
| 6595 | chr15 | 90760821 | G | A |
c.1448G>A
|
p.Arg483Lys
|
- | 3.0 |
|
B |