Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27382 | chr9 | 128625190 | G | C |
c.6069+11G>C
|
-
|
- | 3.0 |
|
B | |
| 24618 | chr9 | 128625802 | C | T |
c.6103C>T
|
p.Gln2035Ter
|
3.5 |
|
B | ||
| 6308 | chr9 | 128625939 | CAAG | C |
c.6247_6249del
|
p.Lys2083del
|
3.0 |
|
B | ||
| 3925 | chr9 | 128626491 | C | T |
c.6380C>T
|
p.Ser2127Phe
|
- | 3.0 |
|
B | |
| 4931 | chr9 | 128626517 | G | A |
c.6406G>A
|
p.Glu2136Lys
|
3.0 |
|
B | ||
| 5636 | chr9 | 128626622 | C | T |
c.6511C>T
|
p.Pro2171Ser
|
- | 3.0 |
|
B | |
| 26336 | chr9 | 128627380 | C | T |
c.6577-6C>T
|
-
|
- | 2.0 |
|
B | |
| 28191 | chr9 | 128627508 | C | T |
c.6689+10C>T
|
-
|
2.0 |
|
B | ||
| 20088 | chr9 | 128630385 | C | T |
c.6762+10C>T
-
|
-
-
|
2.0 |
|
B | ||
| 6724 | chr9 | 128632128 | G | A |
c.6764G>A
-
|
p.Arg2255His
-
|
3.0 |
|
B | ||
| 29369 | chr9 | 128632334 | G | A |
c.6959+11G>A
-
|
-
-
|
- | 2.0 |
|
B | |
| 9672 | chr9 | 128632589 | A | C |
c.7031A>C
-
|
p.Lys2344Thr
-
|
- | 3.0 |
|
B | |
| 11620 | chr9 | 128632901 | C | G |
c.7254C>G
-
|
p.Phe2418Leu
-
|
- | 3.0 |
|
B | |
| 11692 | chr9 | 128632902 | C | T |
c.7255C>T
-
|
p.Arg2419Trp
-
|
3.0 |
|
B | ||
| 33152 | chr9 | 128636347 | C | T |
-
c.637G>A
|
-
p.Val213Met
|
3.0 |
|
B | ||
| 26571 | chr9 | 128683931 | AAAG | A |
c.42_44del
|
p.Lys15del
|
3.0 |
|
B | ||
| 21821 | chr9 | 128692718 | G | A |
c.331G>A
|
p.Glu111Lys
|
- | 3.0 |
|
B | |
| 22345 | chr9 | 128692775 | T | G |
c.378+10T>G
|
-
|
3.0 |
|
B | ||
| 24003 | chr9 | 128693880 | C | CT |
c.664-4dup
|
-
|
2.5 |
|
B | ||
| 19878 | chr9 | 128693880 | CT | C |
c.664-4del
|
-
|
1.5 |
|
B |