Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20925 | chrX | 77682395 | CAT | C |
c.2859_2860del
|
p.Cys954Ter
|
- | 4.0 |
|
B | |
| 34852 | chrX | 77682514 | T | TG |
c.2741dup
|
p.Ser915LysfsTer5
|
- | 4.0 |
|
B | |
| 15612 | chrX | 77682564 | CTT | C |
c.2690_2691del
|
p.Lys897ArgfsTer13
|
- | 4.0 |
|
B | |
| 34966 | chrX | 77682567 | T | C |
c.2689A>G
|
p.Lys897Glu
|
3.0 |
|
B | ||
| 12577 | chrX | 77682596 | GTCTC | G |
c.2656_2659del
|
p.Glu886LeufsTer18
|
- | 4.0 |
|
B | |
| 637 | chrX | 77682602 | CTCTCT | C |
c.2649_2653del
|
p.Glu884ArgfsTer11
|
- | 4.0 |
|
B | |
| 19283 | chrX | 77682661 | G | C |
c.2595C>G
|
p.His865Gln
|
1.5 |
|
B | ||
| 2428 | chrX | 77682834 | G | A |
c.2422C>T
|
p.Arg808Ter
|
- | 4.0 |
|
B | |
| 3043 | chrX | 77682838 | CT | C |
c.2417del
|
p.Lys806ArgfsTer16
|
- | 4.0 |
|
B | |
| 28000 | chrX | 77682845 | G | GA |
c.2410dup
|
p.Ser804PhefsTer2
|
- | 4.0 |
|
B | |
| 17950 | chrX | 77682891 | C | T |
c.2365G>A
|
p.Asp789Asn
|
- | 3.0 |
|
B | |
| 2119 | chrX | 77682915 | G | A |
c.2341C>T
|
p.Arg781Ter
|
- | 4.0 |
|
B | |
| 10430 | chrX | 77682952 | CTT | C |
c.2302_2303del
|
p.Lys768AspfsTer7
|
- | 4.0 |
|
B | |
| 22475 | chrX | 77682959 | T | A |
c.2297A>T
|
p.Asp766Val
|
- | 3.0 |
|
B | |
| 5567 | chrX | 77683085 | GTC | G |
c.2169_2170del
|
p.Glu723AspfsTer9
|
- | 4.0 |
|
B | |
| 10537 | chrX | 77683091 | G | T |
c.2165C>A
|
p.Ser722Ter
|
- | 4.0 |
|
B | |
| 17039 | chrX | 77683190 | TG | T |
c.2065del
|
p.Gln689LysfsTer7
|
- | 4.0 |
|
B | |
| 32932 | chrX | 77683226 | G | C |
c.2030C>G
|
p.Ser677Ter
|
- | 4.0 |
|
B | |
| 13114 | chrX | 77683296 | G | A |
c.1960C>T
|
p.Arg654Ter
|
- | 4.5 |
|
B | |
| 11664 | chrX | 77683316 | A | T |
c.1940T>A
|
p.Leu647His
|
- | 3.0 |
|
B |