Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12904 | chr4 | 55118819 | G | C |
c.162-19C>G
|
-
|
- | 3.0 |
|
B | |
| 11140 | chr4 | 55121200 | A | G |
c.68-10T>C
|
-
|
- | 3.0 |
|
B | |
| 10968 | chr4 | 55125294 | C | A |
c.-1G>T
|
-
|
1.5 |
|
B | ||
| 1829 | chr4 | 55470786 | TA | T |
c.368del
|
p.Leu123Ter
|
3.0 |
|
B | ||
| 2613 | chr4 | 56310687 | C | CT |
c.308dup
|
p.Ser104LysfsTer11
|
- | 3.0 |
|
B | |
| 19435 | chr4 | 56354102 | CA | C |
c.1319del
|
p.Leu440TrpfsTer43
|
3.0 |
|
B | ||
| 17115 | chr4 | 56656014 | T | G |
c.43-2A>C
|
p.?
|
3.0 |
|
B | ||
| 11360 | chr4 | 56910803 | T | TG |
c.169dup
|
p.Glu57GlyfsTer8
|
- | 4.0 |
|
B | |
| 35312 | chr4 | 56910891 | T | G |
c.253T>G
|
p.Ser85Ala
|
3.0 |
|
B | ||
| 19057 | chr4 | 56911288 | G | A |
c.650G>A
|
p.Arg217His
|
3.0 |
|
B | ||
| 35117 | chr4 | 56911456 | G | A |
c.818G>A
|
p.Arg273Lys
|
- | 3.0 |
|
B | |
| 14920 | chr4 | 56919793 | G | A |
c.905G>A
|
p.Arg302His
|
- | 3.0 |
|
B | |
| 19058 | chr4 | 56919859 | G | A |
c.971G>A
|
p.Arg324His
|
- | 3.0 |
|
B | |
| 28690 | chr4 | 56929919 | T | C |
c.1061T>C
|
p.Val354Ala
|
- | 3.0 |
|
B | |
| 14921 | chr4 | 56930030 | G | A |
c.1172G>A
|
p.Cys391Tyr
|
- | 3.0 |
|
B | |
| 12428 | chr4 | 56930934 | G | T |
c.2076G>T
|
p.Glu692Asp
|
1.0 |
|
B | ||
| 31757 | chr4 | 56931157 | C | T |
c.2299C>T
|
p.Pro767Ser
|
- | 3.0 |
|
B | |
| 31758 | chr4 | 56931391 | G | T |
c.2533G>T
|
p.Val845Phe
|
3.0 |
|
B | ||
| 14922 | chr4 | 56931707 | A | G |
c.2849A>G
|
p.Asp950Gly
|
- | 3.0 |
|
B | |
| 14923 | chr4 | 56931889 | A | G |
c.3031A>G
|
p.Ile1011Val
|
3.0 |
|
B |