Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15354 | chr9 | 84723639 | C | T |
c.650C>T
|
p.Ser217Phe
|
- | 3.0 |
|
B | |
| 21985 | chr9 | 84727685 | A | T |
c.885A>T
|
p.Pro295=
|
- | 3.0 |
|
B | |
| 35441 | chr9 | 84727884 | A | C |
c.1084A>C
|
p.Ile362Leu
|
- | 3.0 |
|
B | |
| 16498 | chr9 | 84727908 | G | A |
c.1108G>A
|
p.Asp370Asn
|
- | 3.0 |
|
B | |
| 10225 | chr9 | 84727953 | G | C |
c.1153G>C
|
p.Asp385His
|
- | 3.0 |
|
B | |
| 34026 | chr9 | 84745093 | G | T |
c.1296+20G>T
|
-
|
- | 3.0 |
|
B | |
| 33083 | chr9 | 84751995 | G | T |
c.1306G>T
|
p.Val436Leu
|
- | 3.0 |
|
B | |
| 1586 | chr9 | 84752019 | G | A |
c.1330G>A
|
p.Gly444Arg
|
- | 3.0 |
|
B | |
| 21318 | chr9 | 84861039 | G | A |
c.1397-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 16334 | chr9 | 84867244 | C | T |
c.1446C>T
|
p.Gly482=
|
- | 3.0 |
|
B | |
| 10667 | chr9 | 84867294 | A | G |
c.1496A>G
|
p.His499Arg
|
- | 3.0 |
|
B | |
| 11922 | chr9 | 84867384 | ATCCCCAGTACTT | A |
c.1588_1599del
|
p.Pro530_Phe533del
|
- | 3.0 |
|
B | |
| 26965 | chr9 | 84867386 | C | T |
c.1588C>T
|
p.Pro530Ser
|
- | 3.0 |
|
B | |
| 20261 | chr9 | 84867389 | C | G |
c.1591C>G
|
p.Gln531Glu
|
3.0 |
|
B | ||
| 11923 | chr9 | 84867399 | G | A |
c.1601G>A
|
p.Gly534Asp
|
3.0 |
|
B | ||
| 20359 | chr9 | 84871813 | C | T |
c.1633+4382C>T
|
-
|
- | 3.0 |
|
B | |
| 12388 | chr9 | 84934179 | C | T |
c.1651C>T
|
p.Arg551Ter
|
- | 3.0 |
|
B | |
| 7168 | chr9 | 84934180 | G | A |
c.1652G>A
|
p.Arg551Gln
|
3.5 |
|
B | ||
| 18130 | chr9 | 84934215 | G | A |
c.1687G>A
|
p.Gly563Arg
|
- | 3.0 |
|
B | |
| 28462 | chr9 | 84955416 | C | T |
c.2071C>T
|
p.Arg691Cys
|
- | 3.0 |
|
B |