Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23328 | chr3 | 136340580 | C | T |
c.3583G>A
|
p.Glu1195Lys
|
- | 3.0 |
|
B | |
| 26904 | chr3 | 136343815 | A | G |
c.3446+17T>C
|
-
|
- | 3.0 |
|
B | |
| 18775 | chr3 | 136343991 | T | C |
c.3287A>G
|
p.Asn1096Ser
|
- | 3.0 |
|
B | |
| 27829 | chr3 | 136349287 | A | G |
c.3142T>C
|
p.Tyr1048His
|
- | 3.0 |
|
B | |
| 22046 | chr3 | 136349307 | A | G |
c.3122T>C
|
p.Val1041Ala
|
- | 3.0 |
|
B | |
| 32010 | chr3 | 136349311 | C | A |
c.3118G>T
|
p.Asp1040Tyr
|
- | 3.0 |
|
B | |
| 27594 | chr3 | 136357772 | C | G |
c.3013G>C
|
p.Glu1005Gln
|
- | 3.0 |
|
B | |
| 19955 | chr3 | 136359214 | C | T |
c.2870G>A
|
p.Arg957His
|
3.0 |
|
B | ||
| 28743 | chr3 | 136359307 | GA | G |
c.2788-12del
|
-
|
- | 3.0 |
|
B | |
| 24432 | chr3 | 136367016 | G | T |
c.2612C>A
|
p.Ala871Asp
|
- | 3.0 |
|
B | |
| 28354 | chr3 | 136367092 | G | A |
c.2546-10C>T
|
-
|
- | 3.0 |
|
B | |
| 22669 | chr3 | 136417867 | A | C |
c.2196+18T>G
|
-
|
3.0 |
|
B | ||
| 27682 | chr3 | 136417975 | G | A |
c.2109-3C>T
|
-
|
- | 3.0 |
|
B | |
| 23956 | chr3 | 136422516 | C | A |
c.1931G>T
|
p.Cys644Phe
|
- | 3.0 |
|
B | |
| 15082 | chr3 | 136472468 | C | G |
c.1150G>C
|
p.Asp384His
|
3.0 |
|
B | ||
| 26870 | chr3 | 136473601 | G | A |
c.1063C>T
|
p.Gln355Ter
|
- | 4.0 |
|
B | |
| 20302 | chr3 | 136477429 | A | AC |
c.903-18_903-17insG
|
-
|
- | 3.0 |
|
B | |
| 31989 | chr3 | 136500235 | A | T |
c.890T>A
|
p.Val297Asp
|
- | 3.0 |
|
B | |
| 18226 | chr3 | 136502775 | C | T |
c.681G>A
|
p.Met227Ile
|
- | 4.0 |
|
B | |
| 28718 | chr3 | 136518415 | C | T |
c.676+2798G>A
|
-
|
3.0 |
|
B |