Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18577 | chr6 | 30895387 | C | T |
c.1514-17C>T
|
-
|
3.0 |
|
B | ||
| 25881 | chr6 | 30895416 | C | G |
c.1526C>G
|
p.Ser509Cys
|
- | 3.0 |
|
B | |
| 9354 | chr6 | 30896811 | C | G |
c.1815C>G
|
p.Phe605Leu
|
- | 3.0 |
|
B | |
| 28078 | chr6 | 30897060 | A | G |
c.1916A>G
|
p.Asp639Gly
|
- | 3.0 |
|
B | |
| 18953 | chr6 | 30897081 | AG | A |
c.1940del
|
p.Gly647AspfsTer6
|
- | 3.0 |
|
B | |
| 18955 | chr6 | 30897089 | C | T |
c.1945C>T
|
p.Pro649Ser
|
- | 3.0 |
|
B | |
| 9739 | chr6 | 30897405 | T | A |
c.2024T>A
|
p.Ile675Asn
|
- | 3.0 |
|
B | |
| 13266 | chr6 | 30899008 | G | A |
c.2572G>A
|
p.Gly858Arg
|
- | 3.0 |
|
B | |
| 2289 | chr6 | 30899016 | C | A |
c.2580C>A
|
p.Phe860Leu
|
- | 3.0 |
|
B | |
| 17284 | chr6 | 30899020 | C | T |
c.2584C>T
|
p.Arg862Trp
|
3.0 |
|
B | ||
| 25623 | chr6 | 30899210 | C | T |
c.2656C>T
|
p.Arg886Trp
|
3.0 |
|
B | ||
| 5259 | chr6 | 30986682 | G | C |
c.507G>C
|
p.Glu169Asp
|
3.0 |
|
B | ||
| 3638 | chr6 | 30987377 | G | A |
c.1202G>A
|
p.Gly401Glu
|
3.0 |
|
B | ||
| 34202 | chr6 | 31164801 | G | A |
c.883C>T
-
|
p.Arg295Ter
-
|
- | 3.0 |
|
B | |
| 31126 | chr6 | 31165123 | C | T |
c.816+5G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 29065 | chr6 | 31165588 | T | C |
c.640A>G
-
|
p.Asn214Asp
-
|
- | 3.0 |
|
B | |
| 18922 | chr6 | 31170427 | G | A |
c.194C>T
|
p.Pro65Leu
|
3.0 |
|
B | ||
| 33557 | chr6 | 31170431 | G | A |
c.190C>T
|
p.Pro64Ser
|
3.0 |
|
B | ||
| 16395 | chr6 | 31170565 | C | T |
c.56G>A
|
p.Gly19Asp
|
- | 3.0 |
|
B | |
| 28601 | chr6 | 31269170 | C | G |
c.1100G>C
|
p.Ter367SerextTer41
|
3.0 |
|
B |