Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18097 | chr5 | 173091320 | G | T |
c.1141G>T
|
p.Glu381Ter
|
- | 3.0 |
|
B | |
| 31901 | chr5 | 173091428 | G | C |
c.1222+27G>C
|
-
|
3.0 |
|
B | ||
| 27017 | chr5 | 173108812 | C | T |
c.1411C>T
|
p.His471Tyr
|
- | 3.0 |
|
B | |
| 27140 | chr5 | 173110621 | A | T |
c.1517A>T
|
p.Asn506Ile
|
- | 3.0 |
|
B | |
| 32860 | chr5 | 173123140 | C | T |
c.1742C>T
|
p.Pro581Leu
|
- | 3.0 |
|
B | |
| 3265 | chr5 | 176531612 | G | A |
c.316C>T
|
p.Pro106Ser
|
3.0 |
|
B | ||
| 30559 | chr5 | 177090522 | C | T |
c.224C>T
|
p.Pro75Leu
|
- | 3.0 |
|
B | |
| 17277 | chr5 | 177090548 | G | A |
c.250G>A
|
p.Gly84Ser
|
3.0 |
|
B | ||
| 6842 | chr5 | 177090551 | C | T |
c.253C>T
|
p.Arg85Cys
|
3.0 |
|
B | ||
| 9811 | chr5 | 177090914 | TAGGGGCCTTCCCCTGCCCTCCAGCACCCTACTGGACACACCCCCAGCGC | T |
c.437-22_463del
|
p.?
|
- | 3.0 |
|
B | |
| 8314 | chr5 | 177090992 | C | T |
c.491C>T
|
p.Ala164Val
|
3.0 |
|
B | ||
| 14014 | chr5 | 177091003 | G | A |
c.502G>A
|
p.Val168Ile
|
3.0 |
|
B | ||
| 28416 | chr5 | 177091009 | TTCCGCTGTCCAGCTGCAGGCAACCCCACGCCCACCA | T |
c.516_551del
|
p.Cys172_Arg183del
|
- | 3.0 |
|
B | |
| 15412 | chr5 | 177091042 | A | G |
c.541A>G
|
p.Thr181Ala
|
- | 3.0 |
|
B | |
| 6320 | chr5 | 177091721 | G | A |
c.640G>A
|
p.Val214Met
|
3.0 |
|
B | ||
| 26923 | chr5 | 177091816 | C | A |
c.727+8C>A
|
-
|
3.0 |
|
B | ||
| 15511 | chr5 | 177092332 | C | T |
c.739C>T
|
p.His247Tyr
|
- | 3.0 |
|
B | |
| 28417 | chr5 | 177092464 | G | A |
c.871G>A
|
p.Gly291Ser
|
3.0 |
|
B | ||
| 25205 | chr5 | 177092713 | G | T |
c.986G>T
|
p.Gly329Val
|
- | 3.0 |
|
B | |
| 27522 | chr5 | 177093184 | G | A |
c.1104G>A
|
p.Thr368=
|
3.0 |
|
B |