Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20986 | chr17 | 7313211 | C | G |
-
c.804+1G>C
-
|
-
p.?
-
|
- | 3.5 |
|
B | |
| 15104 | chr17 | 7313722 | C | G |
-
c.481-1G>C
-
|
-
p.?
-
|
- | 3.5 |
|
B | |
| 19274 | chr17 | 7314154 | A | G |
-
c.323T>C
-
|
-
p.Leu108Pro
-
|
3.0 |
|
B | ||
| 27993 | chr17 | 7314290 | C | A |
-
c.317+1G>T
-
|
-
p.?
-
|
- | 3.5 |
|
B | |
| 5338 | chr17 | 7314360 | T | C |
-
c.248A>G
-
|
-
p.Lys83Arg
-
|
- | 3.0 |
|
B | |
| 27545 | chr17 | 7314491 | T | G |
-
c.201A>C
-
|
-
p.Glu67Asp
-
|
- | 3.0 |
|
B | |
| 9596 | chr17 | 7314539 | C | CCTCCTT |
-
c.152_153insAAGGAG
-
|
-
p.Arg50_Arg51dup
-
|
- | 3.0 |
|
B | |
| 12893 | chr17 | 7314547 | C | A |
-
c.145G>T
-
|
-
p.Glu49Ter
-
|
- | 4.0 |
|
B | |
| 5281 | chr17 | 7314552 | TCTTC | T |
-
c.136_139del
-
|
-
p.Glu46AsnfsTer16
-
|
- | 4.0 |
|
B | |
| 25244 | chr17 | 7317548 | TC | T |
c.4230del
-
|
p.Thr1411HisfsTer2
-
|
- | 4.0 |
|
B | |
| 31559 | chr17 | 7482302 | C | G |
-
c.318C>G
|
-
p.Phe106Leu
|
- | 3.0 |
|
B | |
| 13997 | chr17 | 7484876 | C | T |
-
|
-
|
3.0 |
|
B | ||
| 26206 | chr17 | 7495922 | G | T |
c.94-19G>T
|
-
|
- | 3.0 |
|
B | |
| 30405 | chr17 | 7495957 | C | T |
c.110C>T
|
p.Thr37Met
|
3.0 |
|
B | ||
| 17913 | chr17 | 7496025 | C | A |
c.178C>A
|
p.Pro60Thr
|
- | 3.0 |
|
B | |
| 28221 | chr17 | 7496345 | C | T |
c.362C>T
|
p.Ser121Phe
|
3.0 |
|
B | ||
| 25385 | chr17 | 7496425 | C | A |
c.364-15C>A
|
-
|
- | 3.0 |
|
B | |
| 14672 | chr17 | 7496435 | C | T |
c.364-5C>T
|
-
|
3.0 |
|
B | ||
| 30656 | chr17 | 7496593 | G | A |
c.517G>A
|
p.Glu173Lys
|
- | 3.0 |
|
B | |
| 27813 | chr17 | 7496843 | A | G |
c.617A>G
|
p.Asn206Ser
|
- | 3.0 |
|
B |