Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21868 | chr17 | 59661515 | C | G |
c.1240C>G
|
p.Leu414Val
|
- | 3.0 |
|
B | |
| 9972 | chr17 | 59664001 | T | TCAA |
c.1521+8_1521+10dup
|
-
|
- | 3.0 |
|
B | |
| 29004 | chr17 | 59664847 | C | T |
c.1582C>T
|
p.Gln528Ter
|
- | 4.0 |
|
B | |
| 27601 | chr17 | 59664914 | T | C |
c.1644+5T>C
|
-
|
3.0 |
|
B | ||
| 19340 | chr17 | 59666162 | T | A |
c.1704T>A
|
p.Asp568Glu
|
- | 3.0 |
|
B | |
| 10531 | chr17 | 59666468 | G | T |
c.1783-12G>T
|
-
|
- | 3.0 |
|
B | |
| 19227 | chr17 | 59666522 | G | A |
c.1825G>A
|
p.Asp609Asn
|
- | 3.0 |
|
B | |
| 21088 | chr17 | 59666627 | C | T |
c.1930C>T
|
p.His644Tyr
|
- | 3.0 |
|
B | |
| 21869 | chr17 | 59666917 | C | G |
c.2068C>G
|
p.His690Asp
|
- | 3.0 |
|
B | |
| 18688 | chr17 | 59668795 | G | T |
c.2147G>T
|
p.Gly716Val
|
- | 3.0 |
|
B | |
| 28773 | chr17 | 59668921 | G | A |
c.2273G>A
|
p.Arg758Gln
|
3.0 |
|
B | ||
| 29005 | chr17 | 59674792 | G | A |
c.2510G>A
|
p.Arg837Lys
|
- | 3.0 |
|
B | |
| 14146 | chr17 | 59677159 | C | T |
c.2767C>T
|
p.Arg923Cys
|
3.0 |
|
B | ||
| 19228 | chr17 | 59679431 | C | G |
c.2831C>G
|
p.Ser944Cys
|
- | 3.0 |
|
B | |
| 3079 | chr17 | 59681695 | G | C |
c.3298G>C
|
p.Glu1100Gln
|
- | 3.0 |
|
B | |
| 5461 | chr17 | 59681725 | C | G |
c.3328C>G
|
p.Gln1110Glu
|
- | 3.0 |
|
B | |
| 32562 | chr17 | 59682360 | G | A |
c.3532G>A
|
p.Ala1178Thr
|
- | 3.0 |
|
B | |
| 26364 | chr17 | 59682384 | T | G |
c.3556T>G
|
p.Leu1186Val
|
- | 3.0 |
|
B | |
| 18610 | chr17 | 59682443 | C | T |
c.3600+15C>T
|
-
|
3.0 |
|
B | ||
| 13407 | chr17 | 59682616 | T | TG |
c.3601-13_3601-12insG
|
-
|
- | 3.0 |
|
B |