Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5244 | chrX | 153774438 | C | A |
c.3697C>A
|
p.Gln1233Lys
|
- | 3.0 |
|
B | |
| 5245 | chrX | 153774439 | A | C |
c.3698A>C
|
p.Gln1233Pro
|
- | 3.0 |
|
B | |
| 31958 | chrX | 153943663 | G | T |
-
c.345C>A
|
-
p.Ala115=
|
- | 3.0 |
|
B | |
| 32248 | chrX | 153950468 | G | T |
c.5779C>A
|
p.Leu1927Met
|
- | 3.0 |
|
B | |
| 8442 | chrX | 153951005 | A | T |
c.5518-7T>A
|
-
|
- | 3.0 |
|
B | |
| 30442 | chrX | 153952141 | C | T |
c.4960G>A
|
p.Asp1654Asn
|
- | 3.0 |
|
B | |
| 9210 | chrX | 153952709 | C | G |
c.4747G>C
|
p.Asp1583His
|
- | 3.0 |
|
B | |
| 16872 | chrX | 153952765 | G | A |
c.4691C>T
|
p.Ser1564Phe
|
- | 3.0 |
|
B | |
| 7664 | chrX | 153952807 | CTCAGA | C |
c.4644_4648del
|
p.Asp1548GlufsTer166
|
- | 3.0 |
|
B | |
| 30890 | chrX | 153952934 | G | A |
c.4522C>T
|
p.Pro1508Ser
|
- | 3.0 |
|
B | |
| 34159 | chrX | 153953018 | C | T |
c.4498-60G>A
|
-
|
- | 3.0 |
|
B | |
| 23816 | chrX | 153954061 | C | T |
c.4333+5G>A
|
-
|
3.0 |
|
B | ||
| 13075 | chrX | 153954138 | G | A |
c.4261C>T
|
p.Pro1421Ser
|
- | 3.0 |
|
B | |
| 32723 | chrX | 153954182 | G | A |
c.4217C>T
|
p.Ala1406Val
|
2.5 |
|
B | ||
| 30671 | chrX | 153954231 | C | G |
c.4168G>C
|
p.Gly1390Arg
|
- | 3.0 |
|
B | |
| 21469 | chrX | 153954625 | G | C |
c.3774C>G
|
p.Cys1258Trp
|
- | 3.0 |
|
B | |
| 33680 | chrX | 153954630 | C | A |
c.3769G>T
|
p.Val1257Leu
|
- | 3.0 |
|
B | |
| 13130 | chrX | 153954831 | C | CCACTCCTTG |
c.3567_3568insCAAGGAGTG
|
p.Ala1189_Gly1190insGlnGlyVal
|
- | 3.0 |
|
B | |
| 12935 | chrX | 153954837 | A | AGCATG |
c.3561_3562insCATGC
|
p.Ser1188HisfsTer29
|
- | 3.0 |
|
B | |
| 29089 | chrX | 153954989 | C | T |
c.3410G>A
|
p.Arg1137Gln
|
3.0 |
|
B |