Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20188 | chr22 | 35317968 | GC | G |
c.137+13del
|
-
|
- | 3.0 |
|
B | |
| 1626 | chr22 | 35321975 | C | T |
c.154C>T
|
p.Arg52Ter
|
3.0 |
|
B | ||
| 1040 | chr22 | 35321986 | G | T |
c.165G>T
|
p.Lys55Asn
|
- | 3.0 |
|
B | |
| 1041 | chr22 | 35321987 | A | T |
c.166A>T
|
p.Lys56Ter
|
- | 3.0 |
|
B | |
| 29168 | chr22 | 35323833 | G | A |
c.567G>A
|
p.Glu189=
|
- | 3.0 |
|
B | |
| 34357 | chr22 | 35323880 | C | T |
c.614C>T
|
p.Ser205Phe
|
- | 3.0 |
|
B | |
| 1823 | chr22 | 35323886 | A | T |
c.620A>T
|
p.Asp207Val
|
- | 3.0 |
|
B | |
| 583 | chr22 | 35330372 | T | G |
c.791T>G
|
p.Met264Arg
|
- | 3.0 |
|
B | |
| 30506 | chr22 | 35338710 | C | T |
c.1149-3C>T
|
-
|
- | 3.0 |
|
B | |
| 26528 | chr22 | 35338799 | G | T |
c.1224+11G>T
|
-
|
- | 3.0 |
|
B | |
| 32812 | chr22 | 35345787 | A | T |
c.1284+3A>T
|
-
|
- | 3.0 |
|
B | |
| 10429 | chr22 | 35347078 | C | T |
c.1348C>T
|
p.Arg450Trp
|
3.0 |
|
B | ||
| 2821 | chr22 | 35347090 | G | A |
c.1360G>A
|
p.Ala454Thr
|
3.0 |
|
B | ||
| 8146 | chr22 | 35347157 | C | T |
c.1427C>T
|
p.Ala476Val
|
3.0 |
|
B | ||
| 2919 | chr22 | 36282769 | A | G |
c.5782T>C
|
p.Phe1928Leu
|
- | 3.0 |
|
B | |
| 31013 | chr22 | 36282783 | C | T |
c.5768G>A
|
p.Arg1923His
|
3.0 |
|
B | ||
| 23372 | chr22 | 36284094 | T | G |
c.5764A>C
|
p.Arg1922=
|
2.0 |
|
B | ||
| 31510 | chr22 | 36284111 | G | A |
c.5747C>T
|
p.Ser1916Phe
|
- | 3.0 |
|
B | |
| 33964 | chr22 | 36284132 | G | A |
c.5726C>T
|
p.Ala1909Val
|
- | 3.0 |
|
B | |
| 21203 | chr22 | 36284506 | C | T |
c.5489G>A
|
p.Arg1830His
|
3.0 |
|
B |