Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13168 | chr5 | 98889241 | TA | T |
c.2181-4del
|
-
|
3.0 |
|
B | ||
| 21949 | chr5 | 98892521 | T | C |
c.2180+4A>G
|
-
|
- | 3.0 |
|
B | |
| 17657 | chr5 | 98892597 | T | C |
c.2108A>G
|
p.Glu703Gly
|
- | 3.0 |
|
B | |
| 16394 | chr5 | 98893467 | T | C |
c.1940A>G
|
p.Gln647Arg
|
- | 3.0 |
|
B | |
| 15180 | chr5 | 98893619 | G | C |
c.1801-13C>G
|
-
|
- | 3.0 |
|
B | |
| 15046 | chr5 | 98896213 | G | A |
c.1710+13C>T
|
-
|
- | 3.0 |
|
B | |
| 26073 | chr5 | 98896252 | A | C |
c.1684T>G
|
p.Leu562Val
|
- | 3.0 |
|
B | |
| 28826 | chr5 | 98896410 | C | T |
c.1526G>A
|
p.Gly509Asp
|
- | 3.0 |
|
B | |
| 19453 | chr5 | 98896452 | TA | T |
c.1494-11del
|
-
|
3.0 |
|
B | ||
| 17688 | chr5 | 98898296 | C | T |
c.1325G>A
|
p.Ser442Asn
|
- | 3.0 |
|
B | |
| 20734 | chr5 | 98898321 | G | T |
c.1300C>A
|
p.Gln434Lys
|
- | 3.0 |
|
B | |
| 20735 | chr5 | 98898443 | G | C |
c.1187-9C>G
|
-
|
3.0 |
|
B | ||
| 12811 | chr5 | 98898777 | T | C |
c.1086-13A>G
|
-
|
- | 3.0 |
|
B | |
| 35438 | chr5 | 98899622 | C | T |
c.943G>A
|
p.Glu315Lys
|
- | 3.0 |
|
B | |
| 30384 | chr5 | 98900871 | CAGGTTGAGGAACAT | C |
c.785_798del
|
p.Asp262GlyfsTer6
|
- | 3.0 |
|
B | |
| 19865 | chr5 | 98901100 | GA | G |
c.588-19del
|
-
|
3.0 |
|
B | ||
| 19140 | chr5 | 98902981 | A | C |
c.373-17T>G
|
-
|
3.0 |
|
B | ||
| 23467 | chr5 | 98903909 | C | A |
c.256-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 13582 | chr5 | 102291465 | C | A |
c.497G>T
|
p.Gly166Val
|
- | 3.0 |
|
B | |
| 4666 | chr5 | 108186147 | T | C |
c.1715A>G
|
p.Asn572Ser
|
3.0 |
|
B |