Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31754 | chr2 | 224503823 | C | A |
c.1207-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 32604 | chr2 | 224503836 | AT | A |
c.1207-15del
|
-
|
- | 3.0 |
|
B | |
| 23607 | chr2 | 224506001 | G | T |
c.1161C>A
|
p.Tyr387Ter
|
- | 4.0 |
|
B | |
| 33943 | chr2 | 224506019 | G | C |
c.1143C>G
|
p.Asn381Lys
|
- | 3.0 |
|
B | |
| 2564 | chr2 | 224511350 | T | C |
c.883+4A>G
|
-
|
3.0 |
|
B | ||
| 15410 | chr2 | 224511392 | G | C |
c.845C>G
|
p.Ser282Cys
|
- | 3.0 |
|
B | |
| 17852 | chr2 | 224511394 | ATTCTCCATTTCTACTATAGTC | A |
c.822_842del
|
p.Lys274_Glu280del
|
- | 3.0 |
|
B | |
| 8635 | chr2 | 224511510 | C | A |
c.727G>T
|
p.Glu243Ter
|
- | 3.5 |
|
B | |
| 10165 | chr2 | 224513516 | C | T |
c.654+8G>A
|
-
|
- | 3.0 |
|
B | |
| 30477 | chr2 | 224513574 | C | A |
c.604G>T
|
p.Glu202Ter
|
- | 4.0 |
|
B | |
| 8892 | chr2 | 224514709 | G | A |
c.442C>T
|
p.Arg148Ter
|
- | 4.5 |
|
B | |
| 14318 | chr2 | 224557643 | C | A |
c.264+16G>T
|
-
|
- | 3.0 |
|
B | |
| 3987 | chr2 | 224557667 | T | G |
c.256A>C
|
p.Ile86Leu
|
- | 3.0 |
|
B | |
| 34459 | chr2 | 224557688 | C | G |
c.235G>C
|
p.Glu79Gln
|
- | 3.0 |
|
B | |
| 8636 | chr2 | 224584962 | C | T |
c.48G>A
|
p.Met16Ile
|
- | 3.0 |
|
B | |
| 1074 | chr2 | 226795030 | G | A |
c.3709C>T
|
p.Gln1237Ter
|
- | 3.0 |
|
B | |
| 9196 | chr2 | 226795080 | C | T |
c.3659G>A
|
p.Arg1220His
|
3.0 |
|
B | ||
| 26188 | chr2 | 226795377 | G | A |
c.3362C>T
|
p.Ala1121Val
|
3.0 |
|
B | ||
| 32184 | chr2 | 226795553 | G | GC |
c.3185dup
|
p.Gln1064ThrfsTer17
|
- | 3.0 |
|
B | |
| 13271 | chr2 | 226795700 | A | T |
c.3039T>A
|
p.Ala1013=
|
- | 3.0 |
|
B |