Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9719 | chr22 | 23833573 | G | A |
c.988G>A
-
|
p.Glu330Lys
-
|
- | 3.0 |
|
B | |
| 5825 | chr22 | 23833648 | ACT | A |
c.1066_1067del
-
|
p.Leu356AspfsTer4
-
|
4.0 |
|
B | ||
| 9800 | chr22 | 23833669 | GAGA | G |
c.1091_1093del
-
|
p.Lys364del
-
|
3.5 |
|
B | ||
| 31738 | chr22 | 23833681 | C | T |
c.1096C>T
-
|
p.Arg366Cys
-
|
3.5 |
|
B | ||
| 33924 | chr22 | 23834124 | C | T |
c.1119-17C>T
-
|
-
-
|
2.0 |
|
B | ||
| 1557 | chr22 | 23834142 | C | T |
c.1120C>T
-
|
p.Arg374Trp
-
|
4.0 |
|
B | ||
| 13044 | chr22 | 23834152 | G | A |
c.1130G>A
-
|
p.Arg377His
-
|
4.5 |
|
B | ||
| 34843 | chr22 | 23838415 | G | A |
-
c.264C>T
|
-
p.Gly88=
|
3.0 |
|
B | ||
| 13664 | chr22 | 24433405 | A | G |
c.1A>G
|
p.Met1?
|
- | 3.0 |
|
B | |
| 25931 | chr22 | 24433550 | C | T |
c.146C>T
|
p.Ala49Val
|
3.0 |
|
B | ||
| 29061 | chr22 | 24433730 | C | T |
c.326C>T
|
p.Pro109Leu
|
- | 3.0 |
|
B | |
| 12853 | chr22 | 24433748 | C | T |
c.332+12C>T
|
-
|
3.0 |
|
B | ||
| 30298 | chr22 | 24440754 | T | A |
c.504T>A
|
p.Phe168Leu
|
- | 3.0 |
|
B | |
| 34932 | chr22 | 24440867 | G | C |
c.617G>C
|
p.Arg206Pro
|
- | 3.0 |
|
B | |
| 31983 | chr22 | 24441402 | G | T |
c.1152G>T
|
p.Glu384Asp
|
3.0 |
|
B | ||
| 32811 | chr22 | 24441424 | G | T |
c.1174G>T
|
p.Gly392Ter
|
- | 3.0 |
|
B | |
| 3467 | chr22 | 24898084 | C | T |
c.2135C>T
|
p.Ser712Leu
|
3.0 |
|
B | ||
| 5238 | chr22 | 24898152 | G | A |
c.2203G>A
|
p.Glu735Lys
|
- | 3.0 |
|
B | |
| 4561 | chr22 | 26292622 | C | T |
c.311C>T
|
p.Pro104Leu
|
- | 3.0 |
|
B | |
| 11150 | chr22 | 27751063 | G | A |
c.3815C>T
|
p.Ser1272Phe
|
3.0 |
|
B |