Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31680 | chrX | 40054327 | A | C |
c.4748T>G
|
p.Leu1583Ter
|
- | 4.0 |
|
B | |
| 32674 | chrX | 40056466 | A | G |
c.4595+689T>C
|
-
|
3.0 |
|
B | ||
| 5478 | chrX | 40057273 | G | A |
c.4477C>T
|
p.Arg1493Trp
|
3.0 |
|
B | ||
| 748 | chrX | 40057293 | T | G |
c.4457A>C
|
p.Lys1486Thr
|
- | 3.0 |
|
B | |
| 568 | chrX | 40062180 | C | A |
c.4387G>T
|
p.Gly1463Cys
|
- | 3.0 |
|
B | |
| 28131 | chrX | 40062324 | C | A |
c.4243G>T
|
p.Glu1415Ter
|
- | 4.0 |
|
B | |
| 9480 | chrX | 40062745 | C | T |
c.4173+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 19822 | chrX | 40062746 | C | A |
c.4173G>T
|
p.Lys1391Asn
|
- | 3.0 |
|
B | |
| 15975 | chrX | 40062939 | TTTTC | T |
c.3976_3979del
|
p.Glu1326ThrfsTer42
|
- | 4.0 |
|
B | |
| 23112 | chrX | 40063073 | T | C |
c.3848-2A>G
|
p.?
|
- | 4.0 |
|
B | |
| 1753 | chrX | 40063643 | G | A |
c.3812C>T
|
p.Ser1271Leu
|
3.0 |
|
B | ||
| 3262 | chrX | 40063658 | C | A |
c.3797G>T
|
p.Gly1266Val
|
- | 3.0 |
|
B | |
| 1137 | chrX | 40063800 | C | A |
c.3655G>T
|
p.Glu1219Ter
|
4.5 |
|
B | ||
| 6341 | chrX | 40064351 | G | A |
c.3487C>T
|
p.Arg1163Ter
|
4.5 |
|
B | ||
| 1469 | chrX | 40064403 | A | AC |
c.3434_3435insG
|
p.Glu1146Ter
|
- | 4.0 |
|
B | |
| 12511 | chrX | 40064570 | C | T |
c.3268G>A
|
p.Asp1090Asn
|
- | 3.0 |
|
B | |
| 15236 | chrX | 40070967 | A | G |
c.3238+6T>C
|
-
|
- | 3.0 |
|
B | |
| 32813 | chrX | 40070991 | G | A |
c.3220C>T
|
p.Gln1074Ter
|
- | 4.0 |
|
B | |
| 23645 | chrX | 40071028 | C | CT |
c.3182dup
|
p.Pro1062AlafsTer17
|
- | 4.0 |
|
B | |
| 35520 | chrX | 40071119 | CTT | C |
c.3090_3091del
|
p.Glu1032ArgfsTer46
|
- | 4.5 |
|
B |