Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35226 | chrX | 71128116 | G | A |
c.3205G>A
|
p.Asp1069Asn
|
3.0 |
|
B | ||
| 31314 | chrX | 71128367 | G | C |
c.3281G>C
|
p.Gly1094Ala
|
- | 3.0 |
|
B | |
| 1736 | chrX | 71128420 | G | A |
c.3334G>A
|
p.Asp1112Asn
|
- | 3.0 |
|
B | |
| 1949 | chrX | 71128443 | G | A |
c.3354+3G>A
|
-
|
3.0 |
|
B | ||
| 9965 | chrX | 71128665 | T | C |
c.3422T>C
|
p.Leu1141Ser
|
- | 3.0 |
|
B | |
| 16018 | chrX | 71129201 | G | C |
c.3563G>C
|
p.Cys1188Ser
|
- | 3.0 |
|
B | |
| 28084 | chrX | 71129308 | T | G |
c.3578-8T>G
|
-
|
- | 3.0 |
|
B | |
| 21922 | chrX | 71129400 | T | C |
c.3662T>C
|
p.Phe1221Ser
|
- | 3.0 |
|
B | |
| 3474 | chrX | 71129742 | G | A |
c.3754G>A
|
p.Glu1252Lys
|
3.0 |
|
B | ||
| 9585 | chrX | 71130028 | T | C |
c.3868-7T>C
|
-
|
- | 3.0 |
|
B | |
| 16634 | chrX | 71130044 | G | A |
c.3877G>A
|
p.Gly1293Arg
|
- | 3.0 |
|
B | |
| 17111 | chrX | 71130091 | A | AGAC |
c.3925_3927dup
|
p.Asp1309dup
|
- | 3.0 |
|
B | |
| 27995 | chrX | 71130194 | C | A |
c.4027C>A
|
p.Arg1343Ser
|
- | 3.0 |
|
B | |
| 34049 | chrX | 71132072 | G | T |
c.4120-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 18200 | chrX | 71132366 | C | T |
c.4254-11C>T
|
-
|
- | 3.0 |
|
B | |
| 26247 | chrX | 71132381 | C | G |
c.4258C>G
|
p.Leu1420Val
|
- | 3.0 |
|
B | |
| 28003 | chrX | 71132399 | T | A |
c.4276T>A
|
p.Trp1426Arg
|
- | 4.0 |
|
B | |
| 22984 | chrX | 71132463 | C | T |
c.4340C>T
|
p.Ala1447Val
|
- | 3.0 |
|
B | |
| 27008 | chrX | 71132477 | G | C |
c.4354G>C
|
p.Glu1452Gln
|
- | 3.0 |
|
B | |
| 29536 | chrX | 71132544 | G | C |
c.4415+6G>C
|
-
|
- | 3.0 |
|
B |