Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23189 | chr18 | 50276832 | C | T |
c.392G>A
|
p.Gly131Glu
|
- | 3.0 |
|
B | |
| 15056 | chr18 | 50277196 | C | A |
c.119G>T
|
p.Gly40Val
|
- | 3.0 |
|
B | |
| 7206 | chr18 | 51047114 | T | C |
c.68T>C
|
p.Leu23Ser
|
- | 3.0 |
|
B | |
| 11793 | chr18 | 51047153 | C | CA |
c.112dup
|
p.Arg38LysfsTer4
|
- | 4.0 |
|
B | |
| 35557 | chr18 | 51047156 | A | C |
c.110A>C
|
p.Lys37Thr
|
- | 3.0 |
|
B | |
| 6576 | chr18 | 51047180 | AG | A |
c.135del
|
p.Lys46SerfsTer2
|
- | 4.0 |
|
B | |
| 33860 | chr18 | 51047186 | T | G |
c.140T>G
|
p.Leu47Arg
|
- | 3.0 |
|
B | |
| 7198 | chr18 | 51047193 | G | GA |
c.153dup
|
p.Asp52ArgfsTer2
|
4.5 |
|
B | ||
| 4575 | chr18 | 51047195 | AAAAAGATGAAT | A |
c.150_160del
|
p.Lys50AsnfsTer16
|
- | 4.0 |
|
B | |
| 803 | chr18 | 51048685 | G | C |
c.250-1G>C
|
p.?
|
4.0 |
|
B | ||
| 7952 | chr18 | 51048693 | G | T |
c.257G>T
|
p.Gly86Val
|
- | 3.0 |
|
B | |
| 902 | chr18 | 51048710 | C | G |
c.274C>G
|
p.His92Asp
|
- | 3.0 |
|
B | |
| 9973 | chr18 | 51048710 | C | T |
c.274C>T
|
p.His92Tyr
|
- | 2.5 |
|
B | |
| 5682 | chr18 | 51048723 | C | A |
c.287C>A
|
p.Ala96Asp
|
- | 3.0 |
|
B | |
| 3067 | chr18 | 51048726 | GTC | G |
c.294_295del
|
p.Trp99GlufsTer4
|
- | 4.0 |
|
B | |
| 2108 | chr18 | 51048733 | G | T |
c.297G>T
|
p.Trp99Cys
|
- | 3.0 |
|
B | |
| 19344 | chr18 | 51048737 | T | C |
c.301T>C
|
p.Trp101Arg
|
- | 3.0 |
|
B | |
| 5973 | chr18 | 51048746 | C | T |
c.310C>T
|
p.Leu104Phe
|
- | 3.0 |
|
B | |
| 11596 | chr18 | 51048762 | T | TA |
c.330dup
|
p.His111ThrfsTer3
|
- | 4.0 |
|
B | |
| 1070 | chr18 | 51048772 | TA | T |
c.339del
|
p.Lys113AsnfsTer9
|
- | 4.0 |
|
B |