Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32999 | chr9 | 90877615 | AT | A |
c.1227del
|
p.Asn409LysfsTer10
|
- | 3.0 |
|
B | |
| 3852 | chr9 | 90877689 | C | T |
c.1300C>T
|
p.Arg434Trp
|
- | 3.0 |
|
B | |
| 25673 | chr9 | 90878787 | T | C |
c.1415T>C
|
p.Ile472Thr
|
3.0 |
|
B | ||
| 13972 | chr9 | 90887856 | G | T |
c.1689G>T
|
p.Trp563Cys
|
- | 3.0 |
|
B | |
| 20902 | chr9 | 90888524 | G | A |
c.1732G>A
|
p.Gly578Arg
|
- | 3.0 |
|
B | |
| 4950 | chr9 | 90888599 | G | A |
c.1807G>A
|
p.Asp603Asn
|
3.0 |
|
B | ||
| 10711 | chr9 | 90888645 | A | C |
c.1835+18A>C
|
-
|
- | 3.0 |
|
B | |
| 20712 | chr9 | 90895566 | G | A |
c.1874G>A
|
p.Arg625Gln
|
3.0 |
|
B | ||
| 3430 | chr9 | 91724807 | C | T |
c.1687G>A
|
p.Glu563Lys
|
3.0 |
|
B | ||
| 4702 | chr9 | 91757536 | G | A |
c.199C>T
|
p.Pro67Ser
|
3.0 |
|
B | ||
| 32866 | chr9 | 92417555 | C | T |
c.4G>A
c.564+37696C>T
|
p.Gly2Ser
-
|
- | 3.0 |
|
B | |
| 3408 | chr9 | 93075905 | TGGGCTCCTCACCTGCACCTGGAAG | T |
c.214_237del
|
p.Leu72_Gly79del
|
- | 3.0 |
|
B | |
| 20559 | chr9 | 93185457 | G | A |
c.528G>A
|
p.Glu176=
|
- | 3.0 |
|
B | |
| 19619 | chr9 | 93185513 | T | A |
c.584T>A
|
p.Leu195His
|
- | 3.0 |
|
B | |
| 18795 | chr9 | 93185563 | G | A |
c.634G>A
|
p.Gly212Arg
|
- | 3.0 |
|
B | |
| 28319 | chr9 | 93229808 | C | T |
c.794C>T
|
p.Ala265Val
|
- | 3.0 |
|
B | |
| 16335 | chr9 | 93238220 | C | T |
c.1234-13C>T
|
-
|
3.0 |
|
B | ||
| 11270 | chr9 | 93239984 | G | T |
c.1542+8G>T
|
-
|
- | 3.0 |
|
B | |
| 14708 | chr9 | 93247564 | G | A |
c.1564G>A
|
p.Glu522Lys
|
3.0 |
|
B | ||
| 15984 | chr9 | 93256363 | C | T |
c.2099C>T
|
p.Pro700Leu
|
3.0 |
|
B |