Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33122 | chr3 | 49361036 | A | T |
-
c.409-654T>A
|
-
-
|
3.0 |
|
B | ||
| 28855 | chr3 | 49362546 | CCTT | C |
-
c.355_357del
|
-
p.Lys119del
|
- | 3.0 |
|
B | |
| 8598 | chr3 | 49362550 | C | G |
-
c.354G>C
|
-
p.Lys118Asn
|
- | 3.0 |
|
B | |
| 10191 | chr3 | 49362582 | G | A |
-
c.322C>T
|
-
p.Pro108Ser
|
- | 3.0 |
|
B | |
| 29883 | chr3 | 49368437 | C | T |
c.268G>A
|
p.Asp90Asn
|
- | 3.0 |
|
B | |
| 2625 | chr3 | 49368461 | T | C |
c.244A>G
|
p.Met82Val
|
- | 3.0 |
|
B | |
| 10356 | chr3 | 49368481 | G | A |
c.224C>T
|
p.Pro75Leu
|
- | 3.0 |
|
B | |
| 4133 | chr3 | 49368494 | G | A |
c.211C>T
|
p.Pro71Ser
|
3.0 |
|
B | ||
| 23458 | chr3 | 49368530 | C | T |
c.175G>A
|
p.Asp59Asn
|
- | 3.0 |
|
B | |
| 21927 | chr3 | 49368549 | C | T |
c.157-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 5356 | chr3 | 49375441 | C | T |
c.149G>A
|
p.Gly50Glu
|
- | 3.0 |
|
B | |
| 2487 | chr3 | 49375445 | C | T |
c.145G>A
|
p.Asp49Asn
|
- | 3.0 |
|
B | |
| 171 | chr3 | 49375465 | T | C |
c.125A>G
|
p.Tyr42Cys
|
4.67 |
|
A | ||
| 15993 | chr3 | 49375472 | C | G |
c.118G>C
|
p.Glu40Gln
|
4.0 |
|
B | ||
| 6911 | chr3 | 49375472 | C | T |
c.118G>A
|
p.Glu40Lys
|
4.0 |
|
B | ||
| 19977 | chr3 | 49375477 | A | G |
c.113T>C
|
p.Val38Ala
|
- | 3.0 |
|
B | |
| 6652 | chr3 | 49375507 | T | G |
c.83A>C
|
p.Asp28Ala
|
- | 3.0 |
|
B | |
| 27216 | chr3 | 49375523 | T | G |
c.67A>C
|
p.Ile23Leu
|
- | 3.0 |
|
B | |
| 33519 | chr3 | 49375525 | A | C |
c.65T>G
|
p.Leu22Arg
|
- | 3.0 |
|
B | |
| 14141 | chr3 | 49375540 | C | T |
c.50G>A
|
p.Gly17Glu
|
3.5 |
|
B |