Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26180 | chr5 | 161689745 | A | C |
c.639A>C
|
p.Gln213His
|
- | 3.0 |
|
B | |
| 27722 | chr5 | 161690339 | C | G |
c.812C>G
|
p.Ala271Gly
|
3.0 |
|
B | ||
| 6078 | chr5 | 161692013 | C | T |
c.899C>T
|
p.Ala300Val
|
3.0 |
|
B | ||
| 1978 | chr5 | 161692033 | A | G |
c.919A>G
|
p.Ile307Val
|
- | 3.0 |
|
B | |
| 13169 | chr5 | 161692071 | C | G |
c.957C>G
|
p.Ile319Met
|
- | 3.0 |
|
B | |
| 9375 | chr5 | 161692118 | C | A |
c.1004C>A
|
p.Ala335Asp
|
- | 3.0 |
|
B | |
| 23715 | chr5 | 161701492 | C | T |
c.1087-6C>T
|
-
|
- | 3.0 |
|
B | |
| 5953 | chr5 | 161701607 | C | A |
c.1196C>A
|
p.Ser399Ter
|
- | 3.0 |
|
B | |
| 15806 | chr5 | 161701631 | T | C |
c.1220T>C
|
p.Leu407Pro
|
- | 3.0 |
|
B | |
| 4964 | chr5 | 161701676 | G | A |
c.1265G>A
|
p.Arg422Gln
|
3.0 |
|
B | ||
| 19590 | chr5 | 161701699 | G | A |
c.1288G>A
|
p.Ala430Thr
|
- | 3.0 |
|
B | |
| 33226 | chr5 | 161701723 | G | T |
c.1312G>T
|
p.Val438Leu
|
- | 3.0 |
|
B | |
| 33227 | chr5 | 161701726 | G | T |
c.1315G>T
|
p.Val439Phe
|
- | 3.0 |
|
B | |
| 23805 | chr5 | 161701732 | C | T |
c.1321C>T
|
p.Leu441Phe
|
3.0 |
|
B | ||
| 25475 | chr5 | 161895863 | G | T |
c.1054G>T
|
p.Glu352Ter
|
- | 3.0 |
|
B | |
| 10482 | chr5 | 161895882 | T | G |
c.1059+14T>G
|
-
|
- | 3.0 |
|
B | |
| 20220 | chr5 | 162067984 | GA | G |
c.-4del
|
-
|
2.0 |
|
B | ||
| 19591 | chr5 | 162067984 | GAA | G |
c.-5_-4del
|
-
|
3.0 |
|
B | ||
| 20322 | chr5 | 163490419 | TA | T |
c.2001del
|
p.Lys667AsnfsTer11
|
3.0 |
|
B | ||
| 5174 | chr5 | 168244712 | A | T |
c.5813A>T
|
p.Asp1938Val
|
- | 3.0 |
|
B |