Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10637 | chr4 | 1930620 | C | T |
c.1411-6C>T
|
-
|
3.0 |
|
B | ||
| 9614 | chr4 | 1935153 | A | G |
c.1565A>G
|
p.Asn522Ser
|
3.0 |
|
B | ||
| 34577 | chr4 | 1935158 | A | G |
c.1570A>G
|
p.Lys524Glu
|
- | 3.0 |
|
B | |
| 26666 | chr4 | 1951074 | C | G |
c.1884C>G
|
p.Val628=
|
- | 3.0 |
|
B | |
| 13141 | chr4 | 1951094 | A | T |
c.1904A>T
|
p.Glu635Val
|
- | 3.0 |
|
B | |
| 17571 | chr4 | 1952187 | C | T |
c.2093C>T
|
p.Ser698Phe
|
- | 3.0 |
|
B | |
| 9815 | chr4 | 1952233 | C | G |
c.2137+2C>G
|
p.?
|
- | 3.0 |
|
B | |
| 7081 | chr4 | 1953458 | C | T |
c.2272C>T
|
p.Arg758Cys
|
- | 3.0 |
|
B | |
| 1365 | chr4 | 1955181 | C | T |
c.2359C>T
|
p.Arg787Cys
|
- | 3.0 |
|
B | |
| 27433 | chr4 | 1956101 | C | T |
c.2794C>T
|
p.His932Tyr
|
3.0 |
|
B | ||
| 29495 | chr4 | 1958046 | G | C |
c.2985+10G>C
|
-
|
- | 3.0 |
|
B | |
| 934 | chr4 | 1959480 | C | T |
c.2995C>T
|
p.Pro999Ser
|
- | 3.0 |
|
B | |
| 19570 | chr4 | 1959537 | T | C |
c.3052T>C
|
p.Cys1018Arg
|
- | 3.0 |
|
B | |
| 30375 | chr4 | 1959741 | G | T |
c.3255+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 8587 | chr4 | 1961074 | G | A |
c.3295G>A
|
p.Glu1099Lys
|
4.0 |
|
B | ||
| 6634 | chr4 | 1974858 | T | C |
c.3373-5T>C
|
-
|
3.0 |
|
B | ||
| 12007 | chr4 | 1974938 | A | G |
c.3448A>G
|
p.Thr1150Ala
|
4.0 |
|
B | ||
| 16879 | chr4 | 1975017 | G | A |
c.3514+13G>A
|
-
|
- | 3.0 |
|
B | |
| 9796 | chr4 | 1975309 | T | G |
c.3530T>G
|
p.Phe1177Cys
|
- | 3.0 |
|
B | |
| 25126 | chr4 | 1976693 | C | T |
c.3826+14C>T
|
-
|
- | 3.0 |
|
B |