Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14145 | chr16 | 50792724 | T | A |
c.2350+19T>A
|
-
|
- | 3.0 |
|
B | |
| 8655 | chr16 | 50793645 | G | C |
c.2450G>C
|
p.Cys817Ser
|
- | 3.0 |
|
B | |
| 28839 | chr16 | 50796440 | G | A |
c.2803G>A
|
p.Ala935Thr
|
- | 3.0 |
|
B | |
| 5215 | chr16 | 53641326 | G | A |
c.2833C>T
|
p.Gln945Ter
|
3.0 |
|
B | ||
| 3491 | chr16 | 53979436 | G | A |
c.1364+45327G>A
|
-
|
3.0 |
|
B | ||
| 1479 | chr16 | 55479503 | CGCGCTCACGGGTCCCCTGAGG | C |
c.31_51del
|
p.Thr11_Leu17del
|
- | 3.0 |
|
B | |
| 9680 | chr16 | 55479508 | T | C |
c.29T>C
|
p.Leu10Pro
|
- | 3.0 |
|
B | |
| 33746 | chr16 | 55479512 | G | A |
c.33G>A
|
p.Thr11=
|
- | 3.0 |
|
B | |
| 10134 | chr16 | 55479514 | G | A |
c.35G>A
|
p.Gly12Asp
|
- | 3.0 |
|
B | |
| 11524 | chr16 | 55479617 | CAA | C |
c.140_141del
|
p.Lys47ArgfsTer41
|
3.0 |
|
B | ||
| 34214 | chr16 | 55483021 | T | C |
c.266T>C
|
p.Leu89Pro
|
- | 3.0 |
|
B | |
| 28286 | chr16 | 55484042 | A | T |
c.407A>T
|
p.Asp136Val
|
- | 3.0 |
|
B | |
| 31294 | chr16 | 55484125 | G | A |
c.490G>A
|
p.Asp164Asn
|
3.0 |
|
B | ||
| 29512 | chr16 | 55485285 | AGT | A |
c.530-7_530-6del
|
-
|
- | 3.0 |
|
B | |
| 22810 | chr16 | 55485437 | G | T |
c.658+10G>T
|
-
|
- | 3.0 |
|
B | |
| 33895 | chr16 | 55485443 | T | C |
c.658+16T>C
|
-
|
- | 3.0 |
|
B | |
| 7792 | chr16 | 55485773 | T | A |
c.828T>A
|
p.His276Gln
|
- | 3.0 |
|
B | |
| 32878 | chr16 | 55488530 | C | T |
c.833-13C>T
|
-
|
3.0 |
|
B | ||
| 31926 | chr16 | 55488615 | A | G |
c.905A>G
|
p.Tyr302Cys
|
3.0 |
|
B | ||
| 1049 | chr16 | 55488674 | G | A |
c.964G>A
|
p.Asp322Asn
|
3.0 |
|
B |