Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6783 | chrX | 53409120 | C | T |
c.1487G>A
|
p.Arg496His
|
3.5 |
|
B | ||
| 27622 | chrX | 53409196 | C | T |
c.1411G>A
|
p.Asp471Asn
|
- | 3.0 |
|
B | |
| 1154 | chrX | 53411823 | G | A |
c.1192C>T
|
p.Arg398Ter
|
4.0 |
|
B | ||
| 1117 | chrX | 53411825 | T | C |
c.1190A>G
|
p.Asn397Ser
|
3.0 |
|
B | ||
| 8535 | chrX | 53412204 | T | A |
c.904A>T
|
p.Lys302Ter
|
- | 3.5 |
|
B | |
| 33245 | chrX | 53413132 | G | A |
c.622C>T
|
p.Arg208Trp
|
3.0 |
|
B | ||
| 24150 | chrX | 53413261 | G | C |
c.586C>G
|
p.Arg196Gly
|
- | 3.5 |
|
B | |
| 6063 | chrX | 53413285 | G | A |
c.562C>T
|
p.Arg188Cys
|
- | 3.0 |
|
B | |
| 24657 | chrX | 53413362 | C | T |
c.485G>A
|
p.Gly162Glu
|
- | 3.0 |
|
B | |
| 31385 | chrX | 53414858 | T | C |
c.311A>G
|
p.Glu104Gly
|
3.0 |
|
B | ||
| 6185 | chrX | 53415021 | C | G |
c.258G>C
|
p.Glu86Asp
|
- | 3.0 |
|
B | |
| 13530 | chrX | 53421962 | G | A |
c.109+530C>T
-
|
-
-
|
3.0 |
|
B | ||
| 29328 | chrX | 53422560 | G | A |
c.41C>T
-
|
p.Ser14Leu
-
|
- | 4.0 |
|
B | |
| 22982 | chrX | 53422615 | C | T |
c.-15G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 5241 | chrX | 53625156 | C | T |
c.1591+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 5725 | chrX | 64189928 | A | G |
c.3359T>C
|
p.Leu1120Pro
|
- | 3.0 |
|
B | |
| 24287 | chrX | 64189939 | T | G |
c.3348A>C
|
p.Gln1116His
|
- | 3.0 |
|
B | |
| 25867 | chrX | 64190020 | C | A |
c.3267G>T
|
p.Arg1089Ser
|
3.0 |
|
B | ||
| 26246 | chrX | 64190074 | AG | A |
c.3212del
|
p.Pro1071LeufsTer59
|
- | 4.0 |
|
B | |
| 14801 | chrX | 64190388 | G | A |
c.2899C>T
|
p.Pro967Ser
|
3.0 |
|
B |