Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5485 | chrX | 77558831 | GATAA | G |
c.6338_6341del
|
p.Phe2113SerfsTer9
|
- | 4.5 |
|
B | |
| 23951 | chrX | 77558841 | C | A |
c.6332G>T
|
p.Arg2111Leu
|
- | 3.0 |
|
B | |
| 12123 | chrX | 77558849 | G | A |
c.6327-3C>T
|
-
|
- | 3.0 |
|
B | |
| 7985 | chrX | 77574243 | T | C |
c.6326+7A>G
|
-
|
- | 3.0 |
|
B | |
| 5624 | chrX | 77574308 | T | G |
c.6268A>C
|
p.Thr2090Pro
|
- | 3.0 |
|
B | |
| 32683 | chrX | 77574330 | G | C |
c.6246C>G
|
p.Asp2082Glu
|
- | 3.0 |
|
B | |
| 11930 | chrX | 77574360 | T | C |
c.6218-2A>G
|
p.?
|
- | 4.0 |
|
B | |
| 13665 | chrX | 77589862 | TTC | T |
c.6187_6188del
|
p.Glu2063ArgfsTer2
|
- | 4.0 |
|
B | |
| 32138 | chrX | 77589910 | CAG | C |
c.6139_6140del
|
p.Leu2047GlyfsTer4
|
- | 4.0 |
|
B | |
| 11170 | chrX | 77589923 | G | C |
c.6128C>G
|
p.Ser2043Cys
|
- | 3.0 |
|
B | |
| 1416 | chrX | 77593693 | T | TA |
c.6110+2dup
|
-
|
- | 3.5 |
|
B | |
| 4586 | chrX | 77593712 | C | T |
c.6094G>A
|
p.Glu2032Lys
|
- | 3.0 |
|
B | |
| 2680 | chrX | 77593739 | G | T |
c.6067C>A
|
p.Leu2023Ile
|
- | 3.0 |
|
B | |
| 1720 | chrX | 77593786 | G | GT |
c.6019dup
|
p.Thr2007AsnfsTer4
|
- | 4.0 |
|
B | |
| 164 | chrX | 77593803 | C | T |
c.6003G>A
|
p.Trp2001Ter
|
5.0 |
|
B | ||
| 7410 | chrX | 77593829 | TAGAA | T |
c.5973_5976del
|
p.Ser1992IlefsTer22
|
- | 4.0 |
|
B | |
| 25515 | chrX | 77599486 | T | C |
c.5881A>G
|
p.Arg1961Gly
|
- | 3.0 |
|
B | |
| 31427 | chrX | 77599544 | ACTAT | A |
c.5819_5822del
|
p.Asp1940ValfsTer14
|
- | 4.0 |
|
B | |
| 6128 | chrX | 77599549 | CT | C |
c.5817del
|
p.Asp1940IlefsTer15
|
- | 4.0 |
|
B | |
| 15007 | chrX | 77599555 | T | C |
c.5812A>G
|
p.Lys1938Glu
|
- | 3.0 |
|
B |