Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1142 | chr2 | 39051196 | T | C |
c.812A>G
|
p.Asp271Gly
|
- | 3.0 |
|
B | |
| 31241 | chr2 | 39051201 | C | G |
c.807G>C
|
p.Met269Ile
|
- | 3.0 |
|
B | |
| 12356 | chr2 | 39054696 | C | T |
c.638G>A
|
p.Arg213Gln
|
2.5 |
|
B | ||
| 33881 | chr2 | 39054744 | C | T |
c.590G>A
|
p.Gly197Glu
|
- | 3.0 |
|
B | |
| 1208 | chr2 | 39054750 | G | C |
c.584C>G
|
p.Thr195Ser
|
- | 3.0 |
|
B | |
| 6649 | chr2 | 39054799 | C | T |
c.535G>A
|
p.Asp179Asn
|
- | 3.0 |
|
B | |
| 34727 | chr2 | 39054827 | T | C |
c.511-4A>G
|
-
|
- | 2.5 |
|
B | |
| 16525 | chr2 | 39056683 | G | A |
c.510+19C>T
|
-
|
- | 3.0 |
|
B | |
| 31491 | chr2 | 39056794 | C | G |
c.418G>C
|
p.Asp140His
|
- | 3.0 |
|
B | |
| 9325 | chr2 | 39058753 | C | T |
c.265G>A
|
p.Asp89Asn
|
- | 3.0 |
|
B | |
| 21135 | chr2 | 39120384 | T | G |
c.39A>C
|
p.Glu13Asp
|
- | 3.0 |
|
B | |
| 8597 | chr2 | 39120386 | C | G |
c.37G>C
|
p.Glu13Gln
|
3.0 |
|
B | ||
| 19376 | chr2 | 39258447 | G | GA |
c.2378-8dup
|
-
|
3.0 |
|
B | ||
| 21097 | chr2 | 39258447 | GA | G |
c.2378-8del
|
-
|
- | 3.0 |
|
B | |
| 30074 | chr2 | 39258520 | G | A |
c.2376C>T
|
p.Asp792=
|
3.0 |
|
B | ||
| 24496 | chr2 | 39258542 | T | C |
c.2354A>G
|
p.Asp785Gly
|
3.0 |
|
B | ||
| 2162 | chr2 | 39260681 | C | T |
c.2233G>A
|
p.Gly745Ser
|
- | 3.0 |
|
B | |
| 29235 | chr2 | 39265324 | T | A |
c.2033-18A>T
|
-
|
3.0 |
|
B | ||
| 34998 | chr2 | 39267219 | C | A |
c.2002G>T
|
p.Glu668Ter
|
- | 3.0 |
|
B | |
| 2100 | chr2 | 39272407 | A | C |
c.1856-7T>G
|
-
|
- | 3.0 |
|
B |