Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34519 | chr17 | 18315913 | G | A |
-
c.124G>A
|
-
p.Ala42Thr
|
3.0 |
|
B | ||
| 4105 | chr17 | 19379100 | G | C |
c.200G>C
-
|
p.Gly67Ala
-
|
- | 3.0 |
|
B | |
| 24318 | chr17 | 20204837 | C | T |
c.788C>T
|
p.Ser263Leu
|
3.0 |
|
B | ||
| 19806 | chr17 | 20204949 | TA | T |
c.908del
|
p.Asn303ThrfsTer63
|
- | 3.0 |
|
B | |
| 34302 | chr17 | 20205547 | G | A |
c.1498G>A
|
p.Glu500Lys
|
3.0 |
|
B | ||
| 31223 | chr17 | 20232408 | G | A |
c.2351+3G>A
|
-
|
- | 3.0 |
|
B | |
| 17080 | chr17 | 20257446 | C | T |
c.2681-5C>T
|
-
|
3.0 |
|
B | ||
| 20144 | chr17 | 28326780 | GA | G |
c.528del
-
|
p.Lys176AsnfsTer188
-
|
3.0 |
|
B | ||
| 19765 | chr17 | 28326780 | GAA | G |
c.527_528del
-
|
p.Lys176MetfsTer10
-
|
- | 3.0 |
|
B | |
| 3716 | chr17 | 28612362 | A | C |
-
c.552T>G
|
-
p.Cys184Trp
|
- | 3.0 |
|
B | |
| 13745 | chr17 | 31095222 | C | A |
c.-88C>A
|
-
|
- | 3.0 |
|
B | |
| 26231 | chr17 | 31095274 | C | T |
c.-36C>T
|
-
|
- | 3.0 |
|
B | |
| 24257 | chr17 | 31155959 | GT | G |
c.61-14del
|
-
|
2.0 |
|
B | ||
| 15839 | chr17 | 31155970 | CT | C |
c.61-4del
|
-
|
2.5 |
|
B | ||
| 1980 | chr17 | 31155981 | A | G |
c.61-2A>G
|
p.?
|
4.0 |
|
B | ||
| 15322 | chr17 | 31159031 | G | GA |
c.233dup
|
p.Asn78LysfsTer29
|
- | 4.5 |
|
B | |
| 31849 | chr17 | 31159038 | A | T |
c.233A>T
|
p.Asn78Ile
|
3.0 |
|
B | ||
| 1577 | chr17 | 31159044 | ATC | A |
c.246_247del
|
p.Gln83ValfsTer23
|
5.0 |
|
B | ||
| 9717 | chr17 | 31159094 | G | T |
c.288+1G>T
|
p.?
|
4.5 |
|
B | ||
| 513 | chr17 | 31163202 | T | G |
c.305T>G
|
p.Met102Arg
|
- | 3.0 |
|
B |