Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34252 | chr4 | 20253807 | C | T |
c.-9C>T
|
-
|
- | 3.0 |
|
B | |
| 10694 | chr4 | 20253855 | G | C |
c.40G>C
|
p.Gly14Arg
|
- | 3.0 |
|
B | |
| 11037 | chr4 | 20253961 | T | A |
c.146T>A
|
p.Val49Glu
|
- | 3.0 |
|
B | |
| 29263 | chr4 | 20256655 | T | A |
c.180-17T>A
|
-
|
- | 3.0 |
|
B | |
| 7852 | chr4 | 20257940 | G | C |
c.323+1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 23221 | chr4 | 20268793 | T | C |
c.324-17T>C
|
-
|
- | 3.0 |
|
B | |
| 2233 | chr4 | 20268841 | C | T |
c.355C>T
|
p.Pro119Ser
|
- | 3.0 |
|
B | |
| 26300 | chr4 | 20268880 | C | T |
c.394C>T
|
p.Leu132Phe
|
- | 3.0 |
|
B | |
| 25620 | chr4 | 20467753 | G | A |
c.397G>A
|
p.Asp133Asn
|
- | 3.0 |
|
B | |
| 18892 | chr4 | 20467822 | T | G |
c.466T>G
|
p.Leu156Val
|
- | 3.0 |
|
B | |
| 12625 | chr4 | 20480747 | G | A |
c.499G>A
|
p.Glu167Lys
|
3.0 |
|
B | ||
| 32657 | chr4 | 20480748 | A | T |
c.500A>T
|
p.Glu167Val
|
- | 3.0 |
|
B | |
| 533 | chr4 | 20480750 | G | T |
c.502G>T
|
p.Asp168Tyr
|
- | 3.0 |
|
B | |
| 23461 | chr4 | 20486241 | G | T |
c.581G>T
|
p.Ser194Ile
|
- | 3.0 |
|
B | |
| 6891 | chr4 | 20486250 | A | G |
c.590A>G
|
p.His197Arg
|
- | 3.0 |
|
B | |
| 23462 | chr4 | 20488801 | T | A |
c.612-18T>A
|
-
|
- | 3.0 |
|
B | |
| 5582 | chr4 | 20488881 | G | A |
c.674G>A
|
p.Arg225His
|
3.0 |
|
B | ||
| 10015 | chr4 | 20488910 | C | A |
c.703C>A
|
p.Gln235Lys
|
- | 3.0 |
|
B | |
| 4594 | chr4 | 20488947 | T | C |
c.740T>C
|
p.Val247Ala
|
- | 3.0 |
|
B | |
| 18565 | chr4 | 20488965 | G | A |
c.758G>A
|
p.Arg253Gln
|
3.0 |
|
B |