Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33540 | chr9 | 115086478 | C | T |
c.1253G>A
|
p.Cys418Tyr
|
- | 3.0 |
|
B | |
| 29941 | chr9 | 115086902 | C | T |
c.829G>A
|
p.Asp277Asn
|
3.0 |
|
B | ||
| 17163 | chr9 | 115090647 | G | T |
c.372C>A
|
p.Ser124Arg
|
3.0 |
|
B | ||
| 22162 | chr9 | 115090931 | GGATGACTTTCTTGAGGACCCCACCTTC | G |
c.61_87del
|
p.Glu21_Ile29del
|
- | 3.0 |
|
B | |
| 3432 | chr9 | 116367755 | G | A |
c.4605+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 4508 | chr9 | 116382447 | A | G |
c.4730A>G
|
p.Asn1577Ser
|
3.0 |
|
B | ||
| 4509 | chr9 | 116487368 | C | T |
c.3488G>A
|
p.Gly1163Asp
|
3.0 |
|
B | ||
| 21692 | chr9 | 117704506 | A | AG |
c.34_35insG
|
p.Ile12SerfsTer24
|
- | 3.0 |
|
B | |
| 33743 | chr9 | 117704581 | C | T |
c.93+16C>T
|
-
|
3.0 |
|
B | ||
| 31917 | chr9 | 117708607 | C | G |
c.138C>G
|
p.Tyr46Ter
|
- | 3.0 |
|
B | |
| 27540 | chr9 | 117712388 | G | C |
c.261-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 24520 | chr9 | 117712405 | A | G |
c.277A>G
|
p.Ile93Val
|
2.5 |
|
B | ||
| 24938 | chr9 | 117712438 | C | T |
c.310C>T
|
p.Leu104Phe
|
3.0 |
|
B | ||
| 35630 | chr9 | 117712466 | C | T |
c.338C>T
|
p.Pro113Leu
|
- | 3.0 |
|
B | |
| 27700 | chr9 | 117712517 | A | C |
c.389A>C
|
p.Lys130Thr
|
- | 3.0 |
|
B | |
| 21229 | chr9 | 117712925 | A | G |
c.797A>G
|
p.Glu266Gly
|
- | 3.0 |
|
B | |
| 9281 | chr9 | 117712928 | G | A |
c.800G>A
|
p.Gly267Glu
|
- | 3.0 |
|
B | |
| 11578 | chr9 | 117713211 | C | G |
c.1083C>G
|
p.Asn361Lys
|
3.0 |
|
B | ||
| 29344 | chr9 | 117713311 | G | T |
c.1183G>T
|
p.Asp395Tyr
|
- | 3.0 |
|
B | |
| 32660 | chr9 | 117713356 | G | T |
c.1228G>T
|
p.Gly410Cys
|
- | 3.0 |
|
B |