Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10361 | chr17 | 61693460 | A | G |
c.2545T>C
|
p.Phe849Leu
|
3.0 |
|
B | ||
| 29030 | chr17 | 61715944 | C | T |
c.2492+7G>A
|
-
|
- | 2.0 |
|
B | |
| 1013 | chr17 | 61715990 | T | C |
c.2453A>G
|
p.Glu818Gly
|
- | 3.0 |
|
B | |
| 1440 | chr17 | 61743061 | AC | A |
c.2330del
|
p.Arg777LeufsTer4
|
4.0 |
|
B | ||
| 20502 | chr17 | 61743071 | T | C |
c.2321A>G
|
p.Asp774Gly
|
3.0 |
|
B | ||
| 9240 | chr17 | 61743077 | G | A |
c.2315C>T
|
p.Ser772Leu
|
- | 3.0 |
|
B | |
| 33778 | chr17 | 61743107 | C | T |
c.2285G>A
|
p.Arg762His
|
3.0 |
|
B | ||
| 35364 | chr17 | 61744573 | C | A |
c.2116G>T
|
p.Glu706Ter
|
- | 4.0 |
|
B | |
| 30019 | chr17 | 61776430 | C | T |
c.2068G>A
|
p.Gly690Arg
|
- | 3.0 |
|
B | |
| 14980 | chr17 | 61780282 | A | T |
c.1914T>A
|
p.Asn638Lys
|
- | 3.0 |
|
B | |
| 20415 | chr17 | 61780310 | A | G |
c.1886T>C
|
p.Val629Ala
|
- | 3.0 |
|
B | |
| 23755 | chr17 | 61780325 | G | A |
c.1871C>T
|
p.Ser624Leu
|
3.0 |
|
B | ||
| 2267 | chr17 | 61780855 | G | T |
c.1779C>A
|
p.Cys593Ter
|
- | 4.0 |
|
B | |
| 28051 | chr17 | 61793610 | A | C |
c.1460T>G
|
p.Phe487Cys
|
- | 3.0 |
|
B | |
| 6677 | chr17 | 61793610 | A | T |
c.1460T>A
|
p.Phe487Tyr
|
- | 3.0 |
|
B | |
| 34490 | chr17 | 61793732 | G | T |
c.1341-3C>A
|
-
|
- | 3.0 |
|
B | |
| 10424 | chr17 | 61799230 | C | A |
c.1210G>T
|
p.Glu404Ter
|
- | 4.5 |
|
B | |
| 10704 | chr17 | 61801360 | TC | T |
c.1032del
|
p.Lys345ArgfsTer3
|
- | 4.0 |
|
B | |
| 28052 | chr17 | 61801378 | C | A |
c.1015G>T
|
p.Glu339Ter
|
- | 4.0 |
|
B | |
| 21776 | chr17 | 61801405 | C | A |
c.988G>T
|
p.Gly330Trp
|
- | 3.0 |
|
B |