Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1879 | chr9 | 8733765 | G | T |
c.64+15C>A
|
-
|
- | 3.0 |
|
B | |
| 11826 | chr9 | 8733769 | G | A |
c.64+11C>T
|
-
|
- | 3.5 |
|
B | |
| 35185 | chr9 | 8733800 | A | C |
c.44T>G
|
p.Phe15Cys
|
- | 3.0 |
|
B | |
| 8452 | chr9 | 13150516 | C | T |
c.3625G>A
|
p.Val1209Ile
|
3.0 |
|
B | ||
| 20054 | chr9 | 13150544 | A | AT |
c.3596dup
|
p.Asn1199LysfsTer9
|
3.0 |
|
B | ||
| 5739 | chr9 | 13168560 | C | G |
c.3060G>C
|
p.Met1020Ile
|
- | 3.0 |
|
B | |
| 20558 | chr9 | 14088301 | G | A |
c.*8C>T
|
-
|
3.0 |
|
B | ||
| 22756 | chr9 | 14102505 | C | A |
c.1467+10494G>T
|
-
|
3.0 |
|
B | ||
| 20067 | chr9 | 14146742 | G | T |
c.872C>A
|
p.Pro291His
|
- | 3.0 |
|
B | |
| 30612 | chr9 | 14146779 | C | T |
c.835G>A
|
p.Glu279Lys
|
- | 3.0 |
|
B | |
| 24372 | chr9 | 14150145 | C | A |
c.806G>T
|
p.Ser269Ile
|
- | 3.0 |
|
B | |
| 24373 | chr9 | 14150146 | T | C |
c.805A>G
|
p.Ser269Gly
|
- | 3.0 |
|
B | |
| 29893 | chr9 | 14179729 | G | C |
c.614C>G
|
p.Pro205Arg
|
- | 3.0 |
|
B | |
| 25000 | chr9 | 14306988 | C | T |
c.562+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 14070 | chr9 | 14307112 | C | T |
c.439G>A
|
p.Asp147Asn
|
3.0 |
|
B | ||
| 15144 | chr9 | 14307244 | A | C |
c.307T>G
|
p.Cys103Gly
|
- | 3.0 |
|
B | |
| 31410 | chr9 | 14307295 | G | A |
c.256C>T
|
p.Gln86Ter
|
- | 3.0 |
|
B | |
| 14050 | chr9 | 14307299 | AAT | A |
c.250_251del
|
p.Ile84SerfsTer30
|
- | 3.0 |
|
B | |
| 34794 | chr9 | 14398538 | A | G |
c.94T>C
|
p.Cys32Arg
|
3.0 |
|
B | ||
| 3407 | chr9 | 14759827 | G | A |
c.5279C>T
|
p.Pro1760Leu
|
- | 3.0 |
|
B |