Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4783 | chr20 | 32961469 | G | T |
c.3727G>T
|
p.Val1243Phe
|
- | 3.0 |
|
B | |
| 3753 | chr20 | 34417174 | G | A |
c.475+3295G>A
|
-
|
3.0 |
|
B | ||
| 4784 | chr20 | 37061104 | C | T |
c.1249G>A
|
p.Glu417Lys
|
3.0 |
|
B | ||
| 5254 | chr20 | 37384148 | A | G |
c.-4-2A>G
|
p.?
|
- | 3.0 |
|
B | |
| 14653 | chr20 | 37384243 | C | T |
c.90C>T
|
p.Gly30=
|
3.0 |
|
B | ||
| 22584 | chr20 | 37386471 | A | G |
c.350+297A>G
|
-
|
- | 3.0 |
|
B | |
| 30206 | chr20 | 37394250 | C | T |
c.526C>T
|
p.Leu176Phe
|
3.0 |
|
B | ||
| 27732 | chr20 | 37396191 | G | A |
c.583G>A
|
p.Asp195Asn
|
3.0 |
|
B | ||
| 12510 | chr20 | 37397824 | G | T |
c.829G>T
|
p.Gly277Cys
|
- | 3.0 |
|
B | |
| 34723 | chr20 | 37400240 | T | G |
c.985T>G
|
p.Tyr329Asp
|
- | 3.0 |
|
B | |
| 3777 | chr20 | 37402583 | G | A |
c.1265G>A
|
p.Arg422Gln
|
3.0 |
|
B | ||
| 24511 | chr20 | 37403287 | G | C |
c.1519G>C
|
p.Glu507Gln
|
- | 3.0 |
|
B | |
| 5683 | chr20 | 37403339 | C | A |
c.1571C>A
|
p.Thr524Lys
|
- | 3.0 |
|
B | |
| 32126 | chr20 | 37403349 | GC | G |
c.1585del
|
p.Gln529SerfsTer115
|
- | 3.0 |
|
B | |
| 4785 | chr20 | 38646190 | G | A |
c.1710+3G>A
|
-
|
- | 3.0 |
|
B | |
| 3586 | chr20 | 40688446 | ATGG | A |
c.402_404del
|
p.His138del
|
3.0 |
|
B | ||
| 31595 | chr20 | 41080177 | ATGAG | A |
c.431+3_431+6del
|
-
|
- | 3.0 |
|
B | |
| 1110 | chr20 | 41084454 | C | T |
c.508-8C>T
|
-
|
- | 3.0 |
|
B | |
| 25651 | chr20 | 41084513 | G | A |
c.559G>A
|
p.Glu187Lys
|
- | 3.0 |
|
B | |
| 14552 | chr20 | 41097235 | T | G |
c.746T>G
|
p.Leu249Arg
|
- | 3.0 |
|
B |