Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24799 | chrX | 64191641 | C | A |
c.1646G>T
|
p.Arg549Leu
|
- | 3.0 |
|
B | |
| 16093 | chrX | 64191656 | G | C |
c.1631C>G
|
p.Pro544Arg
|
- | 3.0 |
|
B | |
| 8092 | chrX | 64191696 | G | A |
c.1591C>T
|
p.Arg531Ter
|
- | 4.0 |
|
B | |
| 168 | chrX | 64191798 | G | A |
c.1489C>T
|
p.Arg497Ter
|
4.67 |
|
A | ||
| 8825 | chrX | 64191827 | AG | A |
c.1459del
|
p.Leu487TrpfsTer54
|
- | 4.0 |
|
B | |
| 29170 | chrX | 64191890 | T | A |
c.1397A>T
|
p.Asn466Ile
|
- | 3.0 |
|
B | |
| 2388 | chrX | 64191980 | T | TA |
c.1306dup
|
p.Tyr436LeufsTer5
|
- | 4.0 |
|
B | |
| 512 | chrX | 64192031 | G | A |
c.1256C>T
|
p.Pro419Leu
|
- | 3.0 |
|
B | |
| 9537 | chrX | 64192191 | G | A |
c.1096C>T
|
p.Gln366Ter
|
- | 4.0 |
|
B | |
| 32815 | chrX | 64192213 | TC | T |
c.1073del
|
p.Arg358GlnfsTer6
|
- | 4.0 |
|
B | |
| 15555 | chrX | 64192230 | G | A |
c.1057C>T
|
p.Arg353Ter
|
4.5 |
|
B | ||
| 15603 | chrX | 64192243 | GC | G |
c.1043del
|
p.Gly348AlafsTer16
|
- | 4.0 |
|
B | |
| 27770 | chrX | 64192316 | G | C |
c.971C>G
|
p.Ser324Ter
|
- | 4.0 |
|
B | |
| 10591 | chrX | 64192316 | G | T |
c.971C>A
|
p.Ser324Ter
|
- | 4.0 |
|
B | |
| 15643 | chrX | 64192418 | C | A |
c.869G>T
|
p.Gly290Val
|
- | 3.0 |
|
B | |
| 6797 | chrX | 64192427 | G | A |
c.860C>T
|
p.Pro287Leu
|
- | 3.0 |
|
B | |
| 25299 | chrX | 64192547 | G | A |
c.740C>T
|
p.Pro247Leu
|
3.0 |
|
B | ||
| 12922 | chrX | 64192758 | G | T |
c.529C>A
|
p.Arg177Ser
|
- | 3.0 |
|
B | |
| 34674 | chrX | 64192823 | A | G |
c.464T>C
|
p.Val155Ala
|
- | 3.0 |
|
B | |
| 20193 | chrX | 64193057 | C | T |
c.230G>A
|
p.Arg77Gln
|
2.0 |
|
B |