Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20451 | chr5 | 23522700 | G | T |
c.697G>T
|
p.Gly233Trp
|
- | 3.0 |
|
B | |
| 5015 | chr5 | 23522703 | C | A |
c.700C>A
|
p.His234Asn
|
3.0 |
|
B | ||
| 10305 | chr5 | 23522766 | C | T |
c.763C>T
|
p.Gln255Ter
|
- | 3.0 |
|
B | |
| 8502 | chr5 | 23522785 | G | A |
c.782G>A
|
p.Trp261Ter
|
- | 3.0 |
|
B | |
| 23846 | chr5 | 23522817 | C | A |
c.814C>A
|
p.His272Asn
|
- | 3.0 |
|
B | |
| 1471 | chr5 | 23522823 | G | T |
c.820G>T
|
p.Gly274Cys
|
- | 3.0 |
|
B | |
| 5529 | chr5 | 23522839 | G | A |
c.836G>A
|
p.Arg279Gln
|
3.0 |
|
B | ||
| 34012 | chr5 | 23522856 | G | T |
c.853G>T
|
p.Glu285Ter
|
- | 3.0 |
|
B | |
| 1520 | chr5 | 23522859 | G | A |
c.856G>A
|
p.Ala286Thr
|
- | 3.0 |
|
B | |
| 17686 | chr5 | 23522866 | A | T |
c.863A>T
|
p.Asn288Ile
|
- | 3.0 |
|
B | |
| 2400 | chr5 | 23522881 | G | T |
c.878G>T
|
p.Trp293Leu
|
- | 3.0 |
|
B | |
| 11812 | chr5 | 23523304 | G | A |
c.896G>A
|
p.Arg299Lys
|
- | 3.0 |
|
B | |
| 5976 | chr5 | 23523333 | G | T |
c.925G>T
|
p.Asp309Tyr
|
- | 3.0 |
|
B | |
| 34990 | chr5 | 23523368 | G | C |
c.950+10G>C
|
-
|
- | 3.0 |
|
B | |
| 24607 | chr5 | 23524417 | G | T |
c.1034G>T
|
p.Arg345Leu
|
3.0 |
|
B | ||
| 12718 | chr5 | 23524458 | G | A |
c.1075G>A
|
p.Asp359Asn
|
3.0 |
|
B | ||
| 26290 | chr5 | 23526224 | C | T |
c.1145-9C>T
|
-
|
3.0 |
|
B | ||
| 12810 | chr5 | 23526250 | C | T |
c.1162C>T
|
p.His388Tyr
|
- | 3.0 |
|
B | |
| 25733 | chr5 | 23526358 | C | T |
c.1270C>T
|
p.Leu424Phe
|
3.0 |
|
B | ||
| 12940 | chr5 | 23526365 | A | C |
c.1277A>C
|
p.Gln426Pro
|
- | 3.0 |
|
B |