Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9704 | chr1 | 39897791 | C | T |
c.676G>A
|
p.Glu226Lys
|
3.0 |
|
B | ||
| 6153 | chr1 | 39897801 | G | T |
c.666C>A
|
p.Ser222Arg
|
- | 3.0 |
|
B | |
| 14427 | chr1 | 39900854 | G | A |
c.496+85C>T
|
-
|
- | 3.0 |
|
B | |
| 4331 | chr1 | 39901081 | G | C |
c.354C>G
|
p.Pro118=
|
- | 3.0 |
|
B | |
| 32806 | chr1 | 39901221 | C | T |
c.214G>A
|
p.Glu72Lys
|
- | 3.0 |
|
B | |
| 11259 | chr1 | 40290870 | GT | G |
c.1085del
|
p.Leu362TyrfsTer5
|
3.0 |
|
B | ||
| 34498 | chr1 | 40312803 | G | A |
c.250-19C>T
|
-
|
- | 3.0 |
|
B | |
| 4618 | chr1 | 42793743 | T | A |
c.282T>A
|
p.Pro94=
|
3.0 |
|
B | ||
| 27542 | chr1 | 43337856 | C | T |
c.8C>T
|
p.Ser3Phe
|
- | 3.0 |
|
B | |
| 14904 | chr1 | 43337894 | G | A |
c.46G>A
|
p.Ala16Thr
|
3.0 |
|
B | ||
| 29840 | chr1 | 43338093 | C | T |
c.80-6C>T
|
-
|
- | 3.0 |
|
B | |
| 32995 | chr1 | 43338099 | A | T |
c.80A>T
|
p.Asp27Val
|
- | 3.0 |
|
B | |
| 7161 | chr1 | 43338146 | C | T |
c.127C>T
|
p.Arg43Ter
|
3.0 |
|
B | ||
| 28610 | chr1 | 43338187 | G | T |
c.168G>T
|
p.Glu56Asp
|
- | 3.0 |
|
B | |
| 23999 | chr1 | 43338189 | C | CAGCG |
c.171_174dup
|
p.Pro59SerfsTer106
|
- | 3.0 |
|
B | |
| 20695 | chr1 | 43338227 | C | T |
c.208C>T
|
p.Pro70Ser
|
- | 3.0 |
|
B | |
| 18630 | chr1 | 43338230 | C | T |
c.211C>T
|
p.Arg71Trp
|
3.0 |
|
B | ||
| 33589 | chr1 | 43338598 | G | A |
c.269G>A
|
p.Arg90Gln
|
3.0 |
|
B | ||
| 29110 | chr1 | 43338672 | T | TAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAC |
c.343_344insAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAC
|
p.Phe115Ter
|
- | 3.0 |
|
B | |
| 15614 | chr1 | 43339268 | C | T |
c.392-3C>T
|
-
|
- | 3.0 |
|
B |