Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12959 | chr19 | 40236093 | G | C |
c.972C>G
|
p.Asp324Glu
|
- | 3.0 |
|
B | |
| 34929 | chr19 | 40236094 | T | C |
c.971A>G
|
p.Asp324Gly
|
- | 3.0 |
|
B | |
| 28597 | chr19 | 40236095 | C | G |
c.970G>C
|
p.Asp324His
|
- | 3.0 |
|
B | |
| 12934 | chr19 | 40236100 | A | ATCCTCAGGT |
c.964_965insACCTGAGGA
|
p.Leu322delinsHisLeuArgMet
|
- | 3.0 |
|
B | |
| 13072 | chr19 | 40236102 | CACCTGAGGA | C |
c.961-7_962del
|
p.?
|
- | 3.0 |
|
B | |
| 28346 | chr19 | 40236264 | G | A |
c.953C>T
|
p.Ala318Val
|
3.0 |
|
B | ||
| 6206 | chr19 | 40238973 | C | A |
c.640G>T
|
p.Ala214Ser
|
- | 3.0 |
|
B | |
| 1492 | chr19 | 40242058 | GTCATT | G |
c.448_452del
|
p.Asn150LeufsTer42
|
- | 3.0 |
|
B | |
| 2160 | chr19 | 40256983 | C | T |
c.118G>A
|
p.Glu40Lys
|
- | 3.0 |
|
B | |
| 28594 | chr19 | 40257052 | C | T |
c.49G>A
|
p.Glu17Lys
|
3.5 |
|
B | ||
| 33835 | chr19 | 40389485 | C | T |
-
c.418G>A
|
-
p.Glu140Lys
|
- | 3.0 |
|
B | |
| 6082 | chr19 | 40394003 | G | T |
c.4349C>A
-
|
p.Pro1450Gln
-
|
- | 3.0 |
|
B | |
| 5271 | chr19 | 40394180 | C | T |
c.4172G>A
-
|
p.Arg1391Gln
-
|
3.0 |
|
B | ||
| 31696 | chr19 | 40394234 | C | T |
c.4118G>A
-
|
p.Arg1373Gln
-
|
3.0 |
|
B | ||
| 19795 | chr19 | 40394272 | T | TTCC |
c.4077_4079dup
-
|
p.Glu1361dup
-
|
2.0 |
|
B | ||
| 23799 | chr19 | 40394272 | TTCC | T |
c.4077_4079del
-
|
p.Glu1361del
-
|
- |
|
B | ||
| 4339 | chr19 | 40394277 | C | A |
c.4075G>T
-
|
p.Glu1359Ter
-
|
- | 3.0 |
|
B | |
| 14252 | chr19 | 40394348 | C | A |
c.4004G>T
-
|
p.Arg1335Leu
-
|
3.0 |
|
B | ||
| 8414 | chr19 | 40394391 | C | T |
c.3961G>A
-
|
p.Glu1321Lys
-
|
3.0 |
|
B | ||
| 9937 | chr19 | 40394558 | G | T |
c.3794C>A
-
|
p.Pro1265His
-
|
- | 3.0 |
|
B |