Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26024 | chr18 | 51048782 | C | A |
c.346C>A
|
p.Gln116Lys
|
- | 3.0 |
|
B | |
| 11704 | chr18 | 51048782 | C | G |
c.346C>G
|
p.Gln116Glu
|
- | 3.0 |
|
B | |
| 478 | chr18 | 51048789 | C | T |
c.353C>T
|
p.Ala118Val
|
- | 3.0 |
|
B | |
| 24509 | chr18 | 51048830 | C | G |
c.394C>G
|
p.His132Asp
|
- | 3.0 |
|
B | |
| 2059 | chr18 | 51048830 | C | T |
c.394C>T
|
p.His132Tyr
|
3.0 |
|
B | ||
| 6010 | chr18 | 51049292 | A | AAGATCTCTCAGGATTAACACTGC |
c.426_448dup
|
p.Ser150IlefsTer5
|
- | 4.0 |
|
B | |
| 2285 | chr18 | 51049293 | A | G |
c.425-2A>G
|
p.?
|
- | 4.0 |
|
B | |
| 33370 | chr18 | 51049301 | C | G |
c.431C>G
|
p.Ser144Ter
|
- | 4.5 |
|
B | |
| 15255 | chr18 | 51054787 | C | A |
c.461C>A
|
p.Ser154Ter
|
- | 4.0 |
|
B | |
| 9394 | chr18 | 51054787 | C | G |
c.461C>G
|
p.Ser154Ter
|
4.5 |
|
B | ||
| 12040 | chr18 | 51054853 | G | GACATT |
c.528_532dup
|
p.Ser178TyrfsTer26
|
- | 4.0 |
|
B | |
| 916 | chr18 | 51054939 | G | T |
c.613G>T
|
p.Glu205Ter
|
- | 4.5 |
|
B | |
| 10835 | chr18 | 51054945 | AATGCTACCAGCACTGC | A |
c.620_635del
|
p.Asn207ThrfsTer29
|
- | 4.0 |
|
B | |
| 485 | chr18 | 51058143 | T | TA |
c.686_687insA
|
p.Ser232GlnfsTer3
|
- | 4.0 |
|
B | |
| 30765 | chr18 | 51058143 | TG | T |
c.692del
|
p.Gly231AlafsTer10
|
- | 4.5 |
|
B | |
| 2593 | chr18 | 51058182 | C | G |
c.725C>G
|
p.Ser242Ter
|
- | 4.0 |
|
B | |
| 24110 | chr18 | 51058182 | C | T |
c.725C>T
|
p.Ser242Leu
|
- | 3.0 |
|
B | |
| 34071 | chr18 | 51058190 | C | T |
c.733C>T
|
p.Gln245Ter
|
- | 4.5 |
|
B | |
| 7890 | chr18 | 51058196 | G | T |
c.739G>T
|
p.Gly247Ter
|
- | 4.0 |
|
B | |
| 3157 | chr18 | 51058202 | C | T |
c.745C>T
|
p.Gln249Ter
|
- | 4.0 |
|
B |