Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1719 | chr17 | 31976589 | C | A |
c.892C>A
|
p.Gln298Lys
|
- | 3.0 |
|
B | |
| 28495 | chr17 | 31976612 | C | G |
c.915C>G
|
p.Asn305Lys
|
- | 3.0 |
|
B | |
| 20857 | chr17 | 31982996 | CAG | C |
c.918-2_918-1del
|
p.?
|
- | 4.0 |
|
B | |
| 5628 | chr17 | 31988367 | C | A |
c.1071C>A
|
p.Phe357Leu
|
- | 3.5 |
|
B | |
| 13435 | chr17 | 31993225 | A | G |
c.1202-17A>G
|
-
|
3.0 |
|
B | ||
| 22634 | chr17 | 31995553 | C | T |
c.1596-11C>T
|
-
|
- | 3.0 |
|
B | |
| 25588 | chr17 | 31995571 | C | T |
c.1603C>T
|
p.Arg535Ter
|
- | 4.0 |
|
B | |
| 683 | chr17 | 31996851 | C | CTGA |
c.1850_1851insATG
|
p.Leu616_Trp617insTer
|
- | 3.5 |
|
B | |
| 26257 | chr17 | 31998755 | C | G |
c.1972C>G
|
p.Leu658Val
|
- | 3.0 |
|
B | |
| 711 | chr17 | 35100997 | C | T |
c.943G>A
|
p.Gly315Arg
|
- | 3.0 |
|
B | |
| 14972 | chr17 | 35101014 | A | G |
c.926T>C
|
p.Val309Ala
|
- | 3.0 |
|
B | |
| 15686 | chr17 | 35101208 | G | A |
c.896C>T
|
p.Ser299Phe
|
3.0 |
|
B | ||
| 15840 | chr17 | 35101236 | G | A |
c.868C>T
|
p.Arg290Trp
|
2.5 |
|
B | ||
| 14973 | chr17 | 35101247 | G | A |
c.857C>T
|
p.Ala286Val
|
- | 3.0 |
|
B | |
| 2798 | chr17 | 35101269 | C | A |
c.835G>T
|
p.Asp279Tyr
|
- | 3.0 |
|
B | |
| 21551 | chr17 | 35101280 | C | T |
c.824G>A
|
p.Arg275Gln
|
3.0 |
|
B | ||
| 33631 | chr17 | 35101308 | G | A |
c.796C>T
|
p.Arg266Cys
|
2.5 |
|
B | ||
| 14974 | chr17 | 35101337 | T | C |
c.767A>G
|
p.Asp256Gly
|
- | 3.0 |
|
B | |
| 29245 | chr17 | 35103541 | TC | T |
c.579del
|
p.Thr194LeufsTer7
|
- | 4.0 |
|
B | |
| 29246 | chr17 | 35103543 | A | T |
c.578T>A
|
p.Val193Glu
|
- | 3.0 |
|
B |