Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24742 | chr9 | 95477670 | C | T |
c.1380G>A
|
p.Trp460Ter
|
- | 4.0 |
|
B | |
| 31183 | chr9 | 95477699 | C | T |
c.1351G>A
|
p.Ala451Thr
|
2.0 |
|
B | ||
| 35326 | chr9 | 95478986 | G | A |
c.1215+14C>T
|
-
|
2.0 |
|
B | ||
| 28976 | chr9 | 95479087 | G | GAA |
c.1126_1127dup
|
p.Lys377SerfsTer56
|
- | 4.0 |
|
B | |
| 21864 | chr9 | 95480108 | C | A |
c.946-18G>T
|
-
|
2.0 |
|
B | ||
| 19918 | chr9 | 95480378 | G | A |
c.945+12C>T
|
-
|
- | 3.0 |
|
B | |
| 6907 | chr9 | 95480505 | C | A |
c.830G>T
|
p.Ser277Ile
|
- | 3.0 |
|
B | |
| 21523 | chr9 | 95480520 | TTTA | T |
c.812_814del
|
p.Ile271del
|
3.0 |
|
B | ||
| 35327 | chr9 | 95480548 | C | T |
c.787G>A
|
p.Glu263Lys
|
3.0 |
|
B | ||
| 35328 | chr9 | 95480597 | G | T |
c.747-9C>A
|
-
|
2.0 |
|
B | ||
| 35244 | chr9 | 95482051 | T | G |
c.655-11A>C
|
-
|
- | 3.0 |
|
B | |
| 28909 | chr9 | 95482124 | G | A |
c.654+10C>T
|
-
|
3.0 |
|
B | ||
| 32534 | chr9 | 95482168 | C | T |
c.620G>A
|
p.Gly207Glu
|
- | 3.0 |
|
B | |
| 15230 | chr9 | 95506549 | C | G |
c.252G>C
|
p.Gln84His
|
3.0 |
|
B | ||
| 14245 | chr9 | 95506608 | G | A |
c.202-9C>T
|
-
|
- | 2.0 |
|
B | |
| 9095 | chr9 | 95508178 | G | A |
c.184C>T
|
p.Leu62=
|
2.5 |
|
B | ||
| 26491 | chr9 | 95508247 | G | GC |
c.114dup
|
p.Leu39AlafsTer51
|
4.0 |
|
B | ||
| 11269 | chr9 | 95508250 | C | T |
c.112G>A
|
p.Gly38Arg
|
2.5 |
|
B | ||
| 9184 | chr9 | 95508314 | G | T |
c.48C>A
|
p.Gly16=
|
2.0 |
|
B | ||
| 19919 | chr9 | 95516690 | T | C |
c.131A>G
|
p.Glu44Gly
|
1.0 |
|
B |