Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8983 | chrX | 108734544 | C | T |
c.1801G>A
|
p.Asp601Asn
|
3.0 |
|
B | ||
| 5998 | chrX | 108734572 | G | GC |
c.1772dup
|
p.Lys592GlnfsTer12
|
3.0 |
|
B | ||
| 24885 | chrX | 108734589 | TGCCACCACCTGAGCCATGGCCATCTCCAGGTCCCTG | T |
c.1720_1755del
|
p.Gln574_Gly585del
|
3.0 |
|
B | ||
| 31829 | chrX | 108734753 | C | T |
c.1592G>A
|
p.Gly531Asp
|
- | 3.0 |
|
B | |
| 35227 | chrX | 108734785 | G | C |
c.1560C>G
|
p.Asn520Lys
|
- | 3.0 |
|
B | |
| 22030 | chrX | 108735051 | A | T |
c.1294T>A
|
p.Phe432Ile
|
- | 3.0 |
|
B | |
| 2078 | chrX | 108735135 | C | T |
c.1210G>A
|
p.Glu404Lys
|
- | 3.0 |
|
B | |
| 10890 | chrX | 108735141 | G | T |
c.1204C>A
|
p.Pro402Thr
|
- | 3.0 |
|
B | |
| 6392 | chrX | 108735191 | G | A |
c.1154C>T
|
p.Ala385Val
|
- | 3.0 |
|
B | |
| 27591 | chrX | 108735326 | C | G |
c.1019G>C
|
p.Cys340Ser
|
- | 3.0 |
|
B | |
| 19856 | chrX | 108735680 | G | A |
c.665C>T
|
p.Ala222Val
|
- | 3.0 |
|
B | |
| 25031 | chrX | 108735691 | G | GCA |
c.653_654insTG
|
p.Leu220ArgfsTer19
|
- | 3.0 |
|
B | |
| 29412 | chrX | 108735696 | GCTCT | G |
c.645_648del
|
p.Glu216ArgfsTer21
|
- | 3.0 |
|
B | |
| 19243 | chrX | 108735701 | C | T |
c.644G>A
|
p.Gly215Glu
|
- | 3.0 |
|
B | |
| 13012 | chrX | 108735710 | T | C |
c.635A>G
|
p.Gln212Arg
|
3.0 |
|
B | ||
| 28281 | chrX | 108735714 | C | T |
c.631G>A
|
p.Ala211Thr
|
- | 3.0 |
|
B | |
| 26370 | chrX | 108735747 | C | T |
c.598G>A
|
p.Glu200Lys
|
- | 3.0 |
|
B | |
| 6771 | chrX | 108735789 | C | T |
c.556G>A
|
p.Glu186Lys
|
- | 3.0 |
|
B | |
| 1118 | chrX | 108735811 | C | A |
c.534G>T
|
p.Ala178=
|
- | 3.0 |
|
B | |
| 10067 | chrX | 108735908 | C | T |
c.437G>A
|
p.Arg146His
|
- | 3.0 |
|
B |