Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33891 | chr8 | 41692894 | T | G |
c.3630-18A>C
|
-
|
- | 3.0 |
|
B | |
| 30331 | chr8 | 41693212 | G | A |
c.3533-11C>T
|
-
|
3.0 |
|
B | ||
| 33586 | chr8 | 41693929 | G | A |
c.3501C>T
|
p.Thr1167=
|
- | 3.0 |
|
B | |
| 34601 | chr8 | 41694048 | A | G |
c.3382T>C
|
p.Phe1128Leu
|
- | 3.0 |
|
B | |
| 26253 | chr8 | 41694792 | G | C |
c.3127C>G
|
p.Leu1043Val
|
- | 3.0 |
|
B | |
| 15672 | chr8 | 41695248 | G | A |
c.3044C>T
|
p.Ser1015Phe
|
- | 3.0 |
|
B | |
| 27999 | chr8 | 41695281 | C | T |
c.3011G>A
|
p.Arg1004His
|
3.0 |
|
B | ||
| 29870 | chr8 | 41696421 | C | T |
c.2902G>A
|
p.Glu968Lys
|
3.0 |
|
B | ||
| 23495 | chr8 | 41702109 | C | A |
c.2331G>T
|
p.Leu777Phe
|
- | 3.0 |
|
B | |
| 34602 | chr8 | 41704487 | A | G |
c.2098-15T>C
|
-
|
- | 3.0 |
|
B | |
| 33587 | chr8 | 41706172 | G | A |
c.2068C>T
|
p.His690Tyr
|
- | 3.0 |
|
B | |
| 33588 | chr8 | 41706255 | G | C |
c.1999-14C>G
|
-
|
3.0 |
|
B | ||
| 20047 | chr8 | 41715004 | C | A |
c.1673G>T
|
p.Arg558Leu
|
- | 3.0 |
|
B | |
| 28857 | chr8 | 41717669 | T | C |
c.1240A>G
|
p.Met414Val
|
- | 3.0 |
|
B | |
| 23061 | chr8 | 41718222 | G | A |
c.1108-18C>T
|
-
|
- | 3.0 |
|
B | |
| 26807 | chr8 | 41719764 | G | A |
c.1004C>T
|
p.Thr335Ile
|
- | 3.0 |
|
B | |
| 21874 | chr8 | 41719816 | G | T |
c.952C>A
|
p.Leu318Ile
|
- | 3.0 |
|
B | |
| 23062 | chr8 | 41719825 | C | A |
c.943G>T
|
p.Gly315Ter
|
- | 3.5 |
|
B | |
| 23496 | chr8 | 41723125 | C | CT |
c.908dup
|
p.Asn304GlufsTer52
|
- | 3.5 |
|
B | |
| 20353 | chr8 | 41723178 | G | A |
c.856C>T
|
p.Arg286Ter
|
- | 3.5 |
|
B |