Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13477 | chr17 | 40343815 | G | GC |
c.179-4496dup
|
-
|
3.0 |
|
B | ||
| 24582 | chr17 | 40344401 | C | T |
c.179-3915C>T
|
-
|
- | 3.0 |
|
B | |
| 13551 | chr17 | 40346650 | A | C |
c.179-1666A>C
|
-
|
3.0 |
|
B | ||
| 14669 | chr17 | 40346934 | C | T |
c.179-1382C>T
|
-
|
3.0 |
|
B | ||
| 29665 | chr17 | 40348317 | C | T |
c.180C>T
|
p.Thr60=
|
3.0 |
|
B | ||
| 6556 | chr17 | 40349796 | C | G |
c.340C>G
|
p.Arg114Gly
|
- | 3.0 |
|
B | |
| 32539 | chr17 | 40351929 | CAAG | C |
c.499_501del
|
p.Lys167del
|
3.0 |
|
B | ||
| 19809 | chr17 | 40352015 | G | A |
c.575G>A
|
p.Arg192His
|
3.0 |
|
B | ||
| 34963 | chr17 | 40352063 | A | G |
c.623A>G
|
p.Tyr208Cys
|
- | 3.0 |
|
B | |
| 32561 | chr17 | 40352327 | C | T |
c.631-4C>T
|
-
|
- | 3.0 |
|
B | |
| 447 | chr17 | 40354320 | C | T |
c.826C>T
|
p.Arg276Trp
|
3.14 |
|
S | ||
| 10669 | chr17 | 40354413 | G | A |
c.919G>A
|
p.Asp307Asn
|
3.0 |
|
B | ||
| 9718 | chr17 | 40354440 | C | A |
c.946C>A
|
p.Leu316Met
|
- | 3.0 |
|
B | |
| 27707 | chr17 | 40354497 | A | T |
c.1003A>T
|
p.Ile335Phe
|
- | 3.0 |
|
B | |
| 8010 | chr17 | 40355252 | T | A |
c.1013-11T>A
|
-
|
- | 3.0 |
|
B | |
| 31547 | chr17 | 40356045 | C | T |
c.1208C>T
-
|
p.Pro403Leu
-
|
3.0 |
|
B | ||
| 9236 | chr17 | 40356057 | C | T |
c.1220C>T
-
|
p.Pro407Leu
-
|
- | 3.0 |
|
B | |
| 27954 | chr17 | 40356090 | A | G |
c.1253A>G
-
|
p.Glu418Gly
-
|
- | 3.0 |
|
B | |
| 1698 | chr17 | 40356100 | C | A |
c.1263C>A
-
|
p.Asp421Glu
-
|
3.0 |
|
B | ||
| 20251 | chr17 | 40356117 | CG | C |
c.1286del
-
|
p.Gly429ValfsTer214
-
|
3.0 |
|
B |