Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19825 | chrX | 106694025 | GT | G |
c.31del
|
p.Trp11GlyfsTer4
|
3.0 |
|
B | ||
| 4800 | chrX | 106785062 | C | T |
c.733-3C>T
|
-
|
3.0 |
|
B | ||
| 3565 | chrX | 106902165 | C | T |
c.206G>A
|
p.Arg69Lys
|
- | 3.0 |
|
B | |
| 4874 | chrX | 107218906 | A | ATCTC |
c.270_271insCTCT
|
p.Ser91LeufsTer12
|
- | 3.0 |
|
B | |
| 3779 | chrX | 107603212 | C | T |
c.5173C>T
|
p.Gln1725Ter
|
3.0 |
|
B | ||
| 22610 | chrX | 108722526 | A | T |
c.3767-3T>A
|
-
|
- | 3.0 |
|
B | |
| 34079 | chrX | 108732684 | G | A |
c.3661C>T
|
p.Arg1221Trp
|
3.0 |
|
B | ||
| 4712 | chrX | 108732686 | C | T |
c.3659G>A
|
p.Arg1220His
|
- | 3.0 |
|
B | |
| 26860 | chrX | 108732699 | G | T |
c.3646C>A
|
p.Pro1216Thr
|
- | 3.0 |
|
B | |
| 6342 | chrX | 108732874 | G | A |
c.3471C>T
|
p.Ser1157=
|
- | 3.0 |
|
B | |
| 27536 | chrX | 108732914 | G | A |
c.3431C>T
|
p.Pro1144Leu
|
3.0 |
|
B | ||
| 21765 | chrX | 108733012 | GTC | G |
c.3331_3332del
|
p.Asp1111ProfsTer45
|
- | 3.0 |
|
B | |
| 16259 | chrX | 108733710 | G | C |
c.2635C>G
|
p.His879Asp
|
1.0 |
|
B | ||
| 7899 | chrX | 108733889 | G | T |
c.2456C>A
|
p.Pro819His
|
- | 3.0 |
|
B | |
| 32792 | chrX | 108734122 | T | A |
c.2223A>T
|
p.Arg741Ser
|
3.0 |
|
B | ||
| 17438 | chrX | 108734181 | G | A |
c.2164C>T
|
p.Pro722Ser
|
3.0 |
|
B | ||
| 10920 | chrX | 108734247 | A | T |
c.2098T>A
|
p.Tyr700Asn
|
- | 3.0 |
|
B | |
| 6921 | chrX | 108734412 | C | T |
c.1933G>A
|
p.Gly645Arg
|
- | 3.0 |
|
B | |
| 25009 | chrX | 108734517 | G | C |
c.1828C>G
|
p.Leu610Val
|
- | 3.0 |
|
B | |
| 23550 | chrX | 108734525 | C | T |
c.1820G>A
|
p.Gly607Glu
|
- | 3.0 |
|
B |