Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25152 | chr4 | 125452250 | G | A |
c.11240G>A
|
p.Gly3747Glu
|
- | 3.0 |
|
B | |
| 22445 | chr4 | 125452295 | C | T |
c.11285C>T
|
p.Thr3762Met
|
3.0 |
|
B | ||
| 24903 | chr4 | 125452377 | A | T |
c.11367A>T
|
p.Lys3789Asn
|
- | 3.0 |
|
B | |
| 28185 | chr4 | 125452391 | G | A |
c.11381G>A
|
p.Arg3794Gln
|
3.0 |
|
B | ||
| 21912 | chr4 | 125452471 | C | T |
c.11461C>T
|
p.Arg3821Ter
|
4.0 |
|
B | ||
| 14009 | chr4 | 125452528 | G | A |
c.11518G>A
|
p.Val3840Met
|
3.0 |
|
B | ||
| 28802 | chr4 | 125452537 | G | A |
c.11527G>A
|
p.Glu3843Lys
|
- | 3.0 |
|
B | |
| 35629 | chr4 | 125452580 | C | T |
c.11570C>T
|
p.Ala3857Val
|
3.0 |
|
B | ||
| 33670 | chr4 | 125452684 | G | T |
c.11674G>T
|
p.Asp3892Tyr
|
3.0 |
|
B | ||
| 28209 | chr4 | 125452687 | G | C |
c.11677G>C
|
p.Gly3893Arg
|
- | 3.0 |
|
B | |
| 12673 | chr4 | 125463623 | C | T |
c.11861C>T
|
p.Ser3954Phe
|
- | 3.0 |
|
B | |
| 29264 | chr4 | 125463644 | C | T |
c.11882C>T
|
p.Ser3961Phe
|
- | 3.0 |
|
B | |
| 26601 | chr4 | 125468501 | C | T |
c.11906-11C>T
|
-
|
3.0 |
|
B | ||
| 14193 | chr4 | 125468532 | G | A |
c.11926G>A
|
p.Glu3976Lys
|
3.0 |
|
B | ||
| 24841 | chr4 | 125468676 | C | G |
c.12070C>G
|
p.Arg4024Gly
|
- | 3.0 |
|
B | |
| 29285 | chr4 | 125468677 | G | A |
c.12071G>A
|
p.Arg4024Gln
|
1.5 |
|
B | ||
| 27640 | chr4 | 125468682 | G | A |
c.12076G>A
|
p.Glu4026Lys
|
- | 3.0 |
|
B | |
| 22191 | chr4 | 125476159 | C | G |
c.12214-12C>G
|
-
|
3.0 |
|
B | ||
| 25916 | chr4 | 125477358 | G | T |
c.12479+24G>T
|
-
|
- | 3.0 |
|
B | |
| 20215 | chr4 | 125477366 | GA | G |
c.12479+40del
|
-
|
3.5 |
|
B |