Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18450 | chr9 | 99142521 | A | C |
c.806-15A>C
|
-
|
- | 3.0 |
|
B | |
| 5717 | chr9 | 99142656 | C | G |
c.926C>G
|
p.Thr309Arg
|
- | 3.0 |
|
B | |
| 25467 | chr9 | 99142668 | T | C |
c.938T>C
|
p.Leu313Pro
|
- | 3.0 |
|
B | |
| 6707 | chr9 | 99142683 | T | A |
c.953T>A
|
p.Met318Lys
|
- | 3.0 |
|
B | |
| 7516 | chr9 | 99142685 | G | A |
c.955G>A
|
p.Glu319Lys
|
- | 3.0 |
|
B | |
| 3821 | chr9 | 99144771 | A | G |
c.1013A>G
|
p.Asn338Ser
|
- | 3.0 |
|
B | |
| 20456 | chr9 | 99144775 | C | CT |
c.1019dup
|
p.Leu340PhefsTer20
|
- | 4.0 |
|
B | |
| 8986 | chr9 | 99144801 | G | A |
c.1043G>A
|
p.Cys348Tyr
|
- | 3.0 |
|
B | |
| 27832 | chr9 | 99144851 | A | G |
c.1093A>G
|
p.Ile365Val
|
3.0 |
|
B | ||
| 34688 | chr9 | 99144855 | A | G |
c.1097A>G
|
p.Asp366Gly
|
- | 3.0 |
|
B | |
| 10039 | chr9 | 99144888 | G | T |
c.1130G>T
|
p.Arg377Met
|
- | 3.5 |
|
B | |
| 20361 | chr9 | 99146537 | T | C |
c.1183T>C
|
p.Ser395Pro
|
- | 3.0 |
|
B | |
| 1455 | chr9 | 99146582 | G | A |
c.1228G>A
|
p.Glu410Lys
|
- | 3.0 |
|
B | |
| 13238 | chr9 | 99146594 | C | T |
c.1240C>T
|
p.Arg414Ter
|
3.5 |
|
B | ||
| 26570 | chr9 | 99146595 | G | A |
c.1241G>A
|
p.Arg414Gln
|
3.0 |
|
B | ||
| 21087 | chr9 | 99147780 | G | A |
c.1382G>A
|
p.Cys461Tyr
|
3.0 |
|
B | ||
| 19155 | chr9 | 99149239 | G | T |
c.1446G>T
|
p.Arg482Ser
|
3.0 |
|
B | ||
| 32308 | chr9 | 99149252 | C | T |
c.1459C>T
|
p.Arg487Trp
|
4.0 |
|
B | ||
| 12736 | chr9 | 99149289 | AAGGCATCAAAATGTAATTCTACAGC | A |
c.1497_*9del
|
p.Glu499AspfsTer40
|
- | 3.5 |
|
B | |
| 7308 | chr9 | 99828203 | C | T |
c.161C>T
|
p.Ser54Phe
|
- | 3.0 |
|
B |