Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24359 | chrX | 51408406 | C | G |
c.1390C>G
|
p.Pro464Ala
|
- | 3.0 |
|
B | |
| 26983 | chrX | 52698005 | C | T |
c.550G>A
|
p.Glu184Lys
|
- | 3.0 |
|
B | |
| 26682 | chrX | 52698016 | A | G |
c.539T>C
|
p.Ile180Thr
|
- | 3.0 |
|
B | |
| 16633 | chrX | 52698045 | C | T |
c.510G>A
|
p.Glu170=
|
- | 3.0 |
|
B | |
| 5373 | chrX | 53193286 | A | AGGGCTCG |
c.4363_4364insCGAGCCC
|
p.Leu1455ProfsTer19
|
- | 3.5 |
|
B | |
| 5318 | chrX | 53193292 | C | G |
c.4358G>C
|
p.Arg1453Pro
|
- | 3.0 |
|
B | |
| 24677 | chrX | 53193860 | G | T |
c.4039-9C>A
|
-
|
- | 3.0 |
|
B | |
| 16868 | chrX | 53194130 | G | A |
c.4038+9C>T
|
-
|
3.0 |
|
B | ||
| 14492 | chrX | 53194258 | G | A |
c.3919C>T
|
p.Arg1307Trp
|
3.0 |
|
B | ||
| 2195 | chrX | 53194261 | C | A |
c.3916G>T
|
p.Gly1306Ter
|
- | 4.0 |
|
B | |
| 5035 | chrX | 53194419 | G | A |
c.3758C>T
|
p.Pro1253Leu
|
- | 3.0 |
|
B | |
| 9256 | chrX | 53194536 | A | G |
c.3641T>C
|
p.Val1214Ala
|
- | 3.0 |
|
B | |
| 18755 | chrX | 53194591 | C | A |
c.3586G>T
|
p.Gly1196Trp
|
- | 3.0 |
|
B | |
| 10108 | chrX | 53194605 | CCA | C |
c.3570_3571del
|
p.Cys1190TrpfsTer13
|
- | 4.0 |
|
B | |
| 34121 | chrX | 53195016 | C | T |
c.3353G>A
|
p.Trp1118Ter
|
- | 4.0 |
|
B | |
| 21642 | chrX | 53195367 | A | T |
c.3164T>A
|
p.Val1055Glu
|
- | 3.0 |
|
B | |
| 29169 | chrX | 53195403 | TC | T |
c.3127del
|
p.Asp1043ThrfsTer12
|
- | 4.0 |
|
B | |
| 27084 | chrX | 53196685 | C | A |
c.2981+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 29227 | chrX | 53196884 | G | A |
c.2783C>T
|
p.Ala928Val
|
3.0 |
|
B | ||
| 11479 | chrX | 53197753 | C | T |
c.2622+18G>A
|
-
|
- | 3.0 |
|
B |