Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14652 | chr20 | 53576811 | CG | C |
c.1952del
|
p.Pro651ArgfsTer37
|
- | 3.0 |
|
B | |
| 12216 | chr20 | 53576815 | G | A |
c.1949C>T
|
p.Pro650Leu
|
3.0 |
|
B | ||
| 21870 | chr20 | 53576866 | T | C |
c.1898A>G
|
p.Glu633Gly
|
- | 3.0 |
|
B | |
| 1838 | chr20 | 53576938 | T | C |
c.1826A>G
|
p.Asp609Gly
|
3.0 |
|
B | ||
| 15784 | chr20 | 53577207 | C | A |
c.1557G>T
|
p.Glu519Asp
|
- | 3.0 |
|
B | |
| 29305 | chr20 | 53577290 | G | C |
c.1484-10C>G
|
-
|
- | 3.0 |
|
B | |
| 4260 | chr20 | 53578447 | T | G |
c.1370A>C
|
p.Lys457Thr
|
- | 3.0 |
|
B | |
| 6769 | chr20 | 53581509 | C | T |
c.1318G>A
|
p.Gly440Ser
|
3.0 |
|
B | ||
| 21284 | chr20 | 53581542 | C | T |
c.1285G>A
|
p.Asp429Asn
|
- | 3.0 |
|
B | |
| 4016 | chr20 | 53581545 | G | C |
c.1282C>G
|
p.Leu428Val
|
3.0 |
|
B | ||
| 22971 | chr20 | 53581552 | G | A |
c.1275C>T
|
p.Ala425=
|
2.5 |
|
B | ||
| 27303 | chr20 | 53581929 | G | T |
c.898C>A
|
p.Gln300Lys
|
- | 3.0 |
|
B | |
| 6694 | chr20 | 53581941 | AGGTGGT | A |
c.880_885del
|
p.Thr294_Thr295del
|
- | 3.0 |
|
B | |
| 7883 | chr20 | 53582409 | C | T |
c.418G>A
|
p.Ala140Thr
|
3.0 |
|
B | ||
| 9176 | chr20 | 53582440 | G | A |
c.387C>T
|
p.Ser129=
|
1.5 |
|
B | ||
| 13610 | chr20 | 53582472 | T | G |
c.355A>C
|
p.Lys119Gln
|
- | 3.0 |
|
B | |
| 22413 | chr20 | 53582687 | G | A |
c.140C>T
|
p.Pro47Leu
|
- | 3.0 |
|
B | |
| 1309 | chr20 | 53582835 | A | C |
c.-9T>G
|
-
|
3.0 |
|
B | ||
| 4867 | chr20 | 56004099 | C | T |
c.73G>A
|
p.Val25Ile
|
3.0 |
|
B | ||
| 1599 | chr20 | 56370178 | AT | A |
c.1191del
-
|
p.Glu397AspfsTer30
-
|
- | 3.0 |
|
B |