Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24741 | chrX | 77663529 | CTGATT | C |
c.3968_3972del
|
p.Glu1323GlyfsTer5
|
- | 4.0 |
|
B | |
| 8083 | chrX | 77663547 | G | C |
c.3955C>G
|
p.Gln1319Glu
|
- | 3.0 |
|
B | |
| 31834 | chrX | 77663548 | A | AT |
c.3953dup
|
p.Asn1318LysfsTer6
|
- | 4.0 |
|
B | |
| 8616 | chrX | 77664644 | C | T |
c.3943+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 24598 | chrX | 77664655 | TG | T |
c.3932del
|
p.Pro1311GlnfsTer35
|
- | 4.0 |
|
B | |
| 15009 | chrX | 77664690 | T | C |
c.3898A>G
|
p.Lys1300Glu
|
- | 3.0 |
|
B | |
| 9514 | chrX | 77676277 | G | A |
c.3758C>T
|
p.Ser1253Leu
|
- | 3.0 |
|
B | |
| 21690 | chrX | 77681539 | AGT | A |
c.3715_3716del
|
p.Thr1239TrpfsTer9
|
- | 4.0 |
|
B | |
| 3941 | chrX | 77681618 | T | A |
c.3638A>T
|
p.Gln1213Leu
|
- | 3.0 |
|
B | |
| 1528 | chrX | 77681693 | G | A |
c.3563C>T
|
p.Ser1188Phe
|
- | 3.0 |
|
B | |
| 8842 | chrX | 77681801 | C | T |
c.3455G>A
|
p.Gly1152Asp
|
- | 3.0 |
|
B | |
| 969 | chrX | 77681881 | AG | A |
c.3374del
|
p.Ser1125LeufsTer5
|
- | 4.0 |
|
B | |
| 7898 | chrX | 77681949 | TC | T |
c.3306del
|
p.Lys1103ArgfsTer15
|
- | 4.0 |
|
B | |
| 1558 | chrX | 77682013 | CTT | C |
c.3241_3242del
|
p.Lys1081GlufsTer2
|
- | 4.0 |
|
B | |
| 24633 | chrX | 77682022 | C | G |
c.3234G>C
|
p.Glu1078Asp
|
- | 3.0 |
|
B | |
| 11940 | chrX | 77682045 | C | CTT |
c.3209_3210dup
|
p.Gly1071LysfsTer48
|
- | 4.0 |
|
B | |
| 9586 | chrX | 77682072 | C | T |
c.3184G>A
|
p.Asp1062Asn
|
- | 3.0 |
|
B | |
| 7727 | chrX | 77682109 | TA | T |
c.3146del
|
p.Ile1049LysfsTer69
|
- | 4.0 |
|
B | |
| 1929 | chrX | 77682118 | ACTTTT | A |
c.3133_3137del
|
p.Lys1045Ter
|
- | 4.0 |
|
B | |
| 4035 | chrX | 77682340 | GTCTT | G |
c.2912_2915del
|
p.Lys971ThrfsTer31
|
- | 4.0 |
|
B |