Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11070 | chr3 | 52403889 | T | C |
-
c.1256A>G
|
-
p.Lys419Arg
|
- | 3.0 |
|
B | |
| 15470 | chr3 | 52404469 | TG | T |
-
c.1233del
|
-
p.Asn411LysfsTer19
|
- | 4.0 |
|
B | |
| 173 | chr3 | 52404475 | G | A |
-
c.1228C>T
|
-
p.Gln410Ter
|
- | 4.5 |
|
B | |
| 9771 | chr3 | 52404500 | A | T |
-
c.1203T>A
|
-
p.Tyr401Ter
|
- | 4.0 |
|
B | |
| 8678 | chr3 | 52404526 | G | A |
-
c.1177C>T
|
-
p.Gln393Ter
|
- | 4.0 |
|
B | |
| 460 | chr3 | 52405227 | CT | C |
-
c.998del
|
-
p.Lys333SerfsTer2
|
- | 4.14 |
|
S | |
| 17855 | chr3 | 52405297 | G | C |
-
c.932-3C>G
|
-
-
|
- | 3.5 |
|
B | |
| 7710 | chr3 | 52405777 | CCTCAGAGGCTG | C |
c.908_918del
-
|
p.Ala303GlyfsTer91
-
|
- | 4.0 |
|
B | |
| 12671 | chr3 | 52405792 | G | A |
c.904C>T
-
|
p.Pro302Ser
-
|
3.0 |
|
B | ||
| 1976 | chr3 | 52405794 | G | A |
c.902C>T
-
|
p.Ala301Val
-
|
- | 3.0 |
|
B | |
| 19911 | chr3 | 52405797 | C | A |
c.899G>T
-
|
p.Arg300Met
-
|
- | 3.0 |
|
B | |
| 17629 | chr3 | 52405836 | G | C |
c.860C>G
-
|
p.Ser287Ter
-
|
- | 4.0 |
|
B | |
| 1930 | chr3 | 52405891 | CT | C |
c.804del
-
|
p.Glu269SerfsTer2
-
|
- | 4.0 |
|
B | |
| 34804 | chr3 | 52405895 | CTG | C |
c.799_800del
-
|
p.Gln267AlafsTer16
-
|
- | 4.5 |
|
B | |
| 174 | chr3 | 52405897 | G | A |
c.799C>T
-
|
p.Gln267Ter
-
|
4.67 |
|
A | ||
| 1816 | chr3 | 52405906 | T | A |
c.790A>T
-
|
p.Arg264Ter
-
|
- | 4.0 |
|
B | |
| 9392 | chr3 | 52405910 | C | T |
c.786G>A
-
|
p.Leu262=
-
|
- | 3.0 |
|
B | |
| 12714 | chr3 | 52406245 | G | A |
c.783+8C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 21456 | chr3 | 52406300 | GCAGCCTGGCCT | G |
c.725_735del
-
|
p.Glu242AlafsTer38
-
|
- | 4.0 |
|
B | |
| 175 | chr3 | 52406318 | T | A |
c.718A>T
-
|
p.Lys240Ter
-
|
- | 4.67 |
|
A |