Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34811 | chr16 | 67659400 | G | T |
-
c.433C>A
-
-
|
-
p.Gln145Lys
-
-
|
- | 3.0 |
|
B | |
| 30964 | chr16 | 67659713 | C | T |
-
c.325G>A
-
-
|
-
p.Glu109Lys
-
-
|
- | 3.0 |
|
B | |
| 13684 | chr16 | 67659799 | C | A |
-
c.243-4G>T
-
-
|
-
-
-
-
|
- | 3.0 |
|
B | |
| 31296 | chr16 | 67659927 | C | A |
-
c.218G>T
-
-
|
-
p.Arg73Leu
-
-
|
- | 3.0 |
|
B | |
| 3550 | chr16 | 67832039 | G | A |
-
c.359C>T
|
-
p.Pro120Leu
|
- | 3.0 |
|
B | |
| 4291 | chr16 | 67987569 | G | A |
c.1398C>T
|
p.Ser466=
|
- | 3.0 |
|
B | |
| 4538 | chr16 | 68181516 | G | T |
c.1957G>T
|
p.Glu653Ter
|
- | 3.0 |
|
B | |
| 1946 | chr16 | 68737397 | TCGGCGTCCCCGGCCAGCCATGGGCC | T |
c.-17_8del
|
p.Met1?
|
- | 4.0 |
|
B | |
| 8813 | chr16 | 68737432 | G | A |
c.17G>A
|
p.Arg6His
|
3.0 |
|
B | ||
| 14970 | chr16 | 68737435 | G | A |
c.20G>A
|
p.Ser7Asn
|
- | 3.0 |
|
B | |
| 15101 | chr16 | 68738301 | C | CGA |
c.53_54insGA
|
p.Ser19ThrfsTer38
|
- | 4.0 |
|
B | |
| 10074 | chr16 | 68738304 | C | G |
c.56C>G
|
p.Ser19Cys
|
3.0 |
|
B | ||
| 5047 | chr16 | 68738315 | C | T |
c.67C>T
|
p.Gln23Ter
|
4.5 |
|
B | ||
| 814 | chr16 | 68738364 | T | TCACGGTGC |
c.118_125dup
|
p.Arg44CysfsTer15
|
- | 4.0 |
|
B | |
| 16917 | chr16 | 68738375 | C | T |
c.127C>T
|
p.Arg43Trp
|
3.0 |
|
B | ||
| 33346 | chr16 | 68801709 | A | AT |
c.208dup
|
p.Ser70PhefsTer24
|
5.0 |
|
B | ||
| 23145 | chr16 | 68808414 | T | A |
c.388-10T>A
|
-
|
- | 3.0 |
|
B | |
| 22778 | chr16 | 68808448 | G | C |
c.412G>C
|
p.Glu138Gln
|
- | 3.0 |
|
B | |
| 954 | chr16 | 68808552 | TA | T |
c.521del
|
p.Asn174ThrfsTer41
|
- | 4.0 |
|
B | |
| 925 | chr16 | 68808560 | T | C |
c.524T>C
|
p.Leu175Pro
|
- | 3.0 |
|
B |