Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19043 | chr3 | 12604287 | G | T |
c.683C>A
|
p.Ser228Tyr
|
- | 3.0 |
|
B | |
| 19044 | chr3 | 12606300 | C | T |
c.582-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 12018 | chr3 | 12608751 | A | C |
c.581+15T>G
|
-
|
- | 3.0 |
|
B | |
| 19555 | chr3 | 12608822 | G | T |
c.525C>A
|
p.His175Gln
|
3.0 |
|
B | ||
| 1303 | chr3 | 12612040 | C | G |
c.230G>C
|
p.Ser77Thr
|
- | 3.0 |
|
B | |
| 30091 | chr3 | 13570539 | G | A |
c.184G>A
|
p.Gly62Ser
|
3.0 |
|
B | ||
| 24386 | chr3 | 13570797 | G | A |
c.442G>A
|
p.Ala148Thr
|
3.0 |
|
B | ||
| 35547 | chr3 | 13570923 | G | T |
c.568G>T
|
p.Glu190Ter
|
- | 4.0 |
|
B | |
| 28796 | chr3 | 13571035 | GC | G |
c.686del
|
p.Pro229GlnfsTer45
|
- | 4.0 |
|
B | |
| 22848 | chr3 | 13571211 | G | A |
c.856G>A
|
p.Glu286Lys
|
- | 3.0 |
|
B | |
| 24470 | chr3 | 13571260 | G | A |
c.905G>A
|
p.Arg302Lys
|
- | 3.0 |
|
B | |
| 34675 | chr3 | 13571328 | G | T |
c.973G>T
|
p.Glu325Ter
|
- | 4.0 |
|
B | |
| 2759 | chr3 | 13571662 | G | GAACCAGGACAGGGTCT |
c.1306+1_1306+2insAACCAGGACAGGGTCT
|
p.?
|
- | 4.0 |
|
B | |
| 14023 | chr3 | 13614020 | C | T |
c.1585C>T
|
p.Arg529Trp
|
3.0 |
|
B | ||
| 35530 | chr3 | 13614065 | C | T |
c.1630C>T
|
p.Pro544Ser
|
- | 3.0 |
|
B | |
| 14298 | chr3 | 13614110 | C | G |
c.1675C>G
|
p.Leu559Val
|
3.0 |
|
B | ||
| 24471 | chr3 | 13618264 | G | A |
c.1918G>A
|
p.Asp640Asn
|
3.0 |
|
B | ||
| 34968 | chr3 | 13618267 | G | A |
c.1921G>A
|
p.Gly641Ser
|
- | 3.0 |
|
B | |
| 14277 | chr3 | 13627852 | G | T |
c.2452G>T
|
p.Gly818Cys
|
- | 3.0 |
|
B | |
| 30092 | chr3 | 13627974 | G | A |
c.2569+5G>A
|
-
|
- | 3.0 |
|
B |