Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33059 | chr3 | 187722602 | C | A |
c.1978-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 18085 | chr3 | 187725026 | G | A |
c.1892C>T
|
p.Pro631Leu
|
- | 3.0 |
|
B | |
| 9197 | chr3 | 187725042 | C | T |
c.1876G>A
|
p.Gly626Ser
|
- | 3.0 |
|
B | |
| 11699 | chr3 | 187725558 | G | A |
c.1780C>T
|
p.Arg594Ter
|
3.0 |
|
B | ||
| 33537 | chr3 | 187725579 | C | T |
c.1759G>A
|
p.Ala587Thr
|
- | 3.5 |
|
B | |
| 27334 | chr3 | 187726740 | C | T |
c.1699G>A
|
p.Val567Ile
|
3.0 |
|
B | ||
| 6077 | chr3 | 187726759 | GTTGCCC | G |
c.1674_1679del
|
p.Lys558_Gly559del
|
- | 3.0 |
|
B | |
| 6211 | chr3 | 187728459 | G | C |
c.1441C>G
|
p.Gln481Glu
|
- | 3.0 |
|
B | |
| 8380 | chr3 | 187728527 | G | A |
c.1373C>T
|
p.Pro458Leu
|
3.0 |
|
B | ||
| 1827 | chr3 | 187729054 | T | C |
c.1351A>G
|
p.Asn451Asp
|
3.0 |
|
B | ||
| 26329 | chr3 | 187729155 | G | A |
c.1250C>T
|
p.Pro417Leu
|
- | 3.0 |
|
B | |
| 35563 | chr3 | 187729671 | G | A |
c.734C>T
|
p.Pro245Leu
|
3.0 |
|
B | ||
| 29692 | chr3 | 187729990 | G | A |
c.415C>T
|
p.Pro139Ser
|
3.0 |
|
B | ||
| 2630 | chr3 | 187731745 | T | C |
c.347A>G
|
p.His116Arg
|
3.0 |
|
B | ||
| 10374 | chr3 | 187731872 | GATTGATCACACTAAGGTTGC | G |
c.200_219del
|
p.Cys67SerfsTer4
|
- | 3.0 |
|
B | |
| 10721 | chr3 | 187731887 | G | A |
c.205C>T
|
p.Leu69Phe
|
- | 3.0 |
|
B | |
| 13163 | chr3 | 187733551 | G | A |
c.143C>T
|
p.Thr48Met
|
3.0 |
|
B | ||
| 12060 | chr3 | 187733641 | A | C |
c.53T>G
|
p.Val18Gly
|
- | 3.0 |
|
B | |
| 6654 | chr3 | 187733684 | G | A |
c.10C>T
|
p.Pro4Ser
|
- | 3.0 |
|
B | |
| 21814 | chr3 | 188484663 | C | G |
c.265C>G
|
p.Pro89Ala
|
3.0 |
|
B |