Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22536 | chr9 | 27202806 | T | C |
c.1910-14T>C
|
-
|
- | 3.0 |
|
B | |
| 15959 | chr9 | 27202940 | A | T |
c.2030A>T
|
p.Gln677Leu
|
- | 3.0 |
|
B | |
| 29871 | chr9 | 27203117 | A | C |
c.2207A>C
|
p.Gln736Pro
|
- | 3.0 |
|
B | |
| 31602 | chr9 | 27205061 | A | T |
c.2360A>T
|
p.Asn787Ile
|
- | 3.0 |
|
B | |
| 32520 | chr9 | 27206635 | G | C |
c.2418G>C
|
p.Lys806Asn
|
- | 3.0 |
|
B | |
| 23652 | chr9 | 27206647 | C | A |
c.2430C>A
|
p.Asn810Lys
|
- | 3.0 |
|
B | |
| 18589 | chr9 | 27206760 | T | C |
c.2543T>C
|
p.Leu848Ser
|
- | 3.0 |
|
B | |
| 29838 | chr9 | 27212760 | C | T |
c.2740C>T
|
p.Leu914Phe
|
4.0 |
|
B | ||
| 14017 | chr9 | 27212817 | G | A |
c.2797G>A
|
p.Ala933Thr
|
3.0 |
|
B | ||
| 15491 | chr9 | 27217703 | C | T |
c.3007C>T
|
p.Arg1003Cys
|
3.0 |
|
B | ||
| 27258 | chr9 | 27228201 | C | T |
c.3201-5C>T
|
-
|
3.0 |
|
B | ||
| 14207 | chr9 | 27228301 | G | A |
c.3296G>A
|
p.Arg1099Gln
|
3.0 |
|
B | ||
| 15418 | chr9 | 27229213 | C | G |
c.3356C>G
|
p.Ser1119Cys
|
- | 3.0 |
|
B | |
| 17876 | chr9 | 27229221 | G | A |
c.3364G>A
|
p.Glu1122Lys
|
- | 3.0 |
|
B | |
| 11884 | chr9 | 32405604 | G | A |
c.97+1G>A
|
p.?
|
3.0 |
|
B | ||
| 20239 | chr9 | 32407319 | GT | G |
c.161del
|
p.Leu54TrpfsTer2
|
- | 3.0 |
|
B | |
| 17792 | chr9 | 32418346 | C | T |
c.493C>T
|
p.His165Tyr
|
- | 3.0 |
|
B | |
| 17174 | chr9 | 32418381 | C | G |
c.528C>G
|
p.Ile176Met
|
- | 3.0 |
|
B | |
| 34774 | chr9 | 32420901 | G | A |
c.844G>A
|
p.Gly282Arg
|
3.0 |
|
B | ||
| 8184 | chr9 | 32420902 | G | T |
c.845G>T
|
p.Gly282Val
|
- | 3.0 |
|
B |