Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1172 | chr17 | 65056454 | C | T |
c.140G>A
|
p.Arg47Gln
|
- | 3.0 |
|
B | |
| 24262 | chr17 | 65530086 | CT | C |
c.2421del
|
p.Ala808GlnfsTer53
|
- | 3.5 |
|
B | |
| 4977 | chr17 | 65530110 | G | A |
c.2406-8C>T
|
-
|
3.0 |
|
B | ||
| 27688 | chr17 | 65533979 | T | C |
c.2338A>G
|
p.Met780Val
|
3.0 |
|
B | ||
| 5541 | chr17 | 65533984 | C | A |
c.2333G>T
|
p.Arg778Leu
|
3.0 |
|
B | ||
| 26388 | chr17 | 65534073 | TTTGTGACTGAAAA | T |
c.2238-7_2243del
|
p.?
|
- | 4.0 |
|
B | |
| 19112 | chr17 | 65536338 | G | A |
c.2123C>T
|
p.Ser708Leu
|
2.5 |
|
B | ||
| 19113 | chr17 | 65536449 | C | T |
c.2012G>A
|
p.Arg671His
|
3.0 |
|
B | ||
| 19817 | chr17 | 65536466 | G | GC |
c.1994dup
|
p.Asn666GlnfsTer41
|
4.5 |
|
B | ||
| 11845 | chr17 | 65536875 | G | T |
c.1901C>A
|
p.Pro634His
|
- | 3.0 |
|
B | |
| 23295 | chr17 | 65536893 | C | T |
c.1883G>A
|
p.Arg628Gln
|
3.0 |
|
B | ||
| 5086 | chr17 | 65536916 | C | A |
c.1860G>T
|
p.Trp620Cys
|
- | 3.0 |
|
B | |
| 25318 | chr17 | 65536924 | C | A |
c.1852G>T
|
p.Asp618Tyr
|
- | 3.0 |
|
B | |
| 11313 | chr17 | 65536975 | C | T |
c.1801G>A
|
p.Gly601Ser
|
3.0 |
|
B | ||
| 16162 | chr17 | 65536977 | G | A |
c.1799C>T
|
p.Pro600Leu
|
- | 3.0 |
|
B | |
| 21555 | chr17 | 65537019 | G | A |
c.1757C>T
|
p.Thr586Met
|
2.5 |
|
B | ||
| 27024 | chr17 | 65537022 | C | A |
c.1754G>T
|
p.Gly585Val
|
- | 3.0 |
|
B | |
| 27025 | chr17 | 65537041 | G | C |
c.1735C>G
|
p.Pro579Ala
|
- | 3.0 |
|
B | |
| 7725 | chr17 | 65537315 | G | A |
c.1712+9C>T
|
-
|
2.5 |
|
B | ||
| 1429 | chr17 | 65537586 | C | T |
c.1450G>A
|
p.Gly484Ser
|
3.0 |
|
B |