Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1400 | chr16 | 2050457 | G | T |
c.196G>T
-
|
p.Glu66Ter
-
|
4.5 |
|
B | ||
| 19100 | chr16 | 2053393 | C | T |
c.277C>T
|
p.Arg93Trp
|
2.0 |
|
B | ||
| 3217 | chr16 | 2053397 | CGCTGGAG | C |
c.284_290del
|
p.Leu95ProfsTer9
|
- | 4.0 |
|
B | |
| 1971 | chr16 | 2054403 | C | G |
c.444C>G
|
p.Asp148Glu
|
- | 3.0 |
|
B | |
| 6700 | chr16 | 2055417 | A | T |
c.497A>T
|
p.Gln166Leu
|
- | 3.5 |
|
B | |
| 13095 | chr16 | 2055538 | T | G |
c.599+19T>G
|
-
|
- | 3.0 |
|
B | |
| 8484 | chr16 | 2056231 | C | G |
c.635C>G
|
p.Ser212Cys
|
- | 3.0 |
|
B | |
| 21539 | chr16 | 2056729 | G | A |
c.734G>A
|
p.Arg245His
|
2.0 |
|
B | ||
| 2258 | chr16 | 2056762 | G | A |
c.767G>A
|
p.Cys256Tyr
|
- | 3.0 |
|
B | |
| 2316 | chr16 | 2056766 | G | A |
c.771G>A
|
p.Trp257Ter
|
- | 4.0 |
|
B | |
| 25722 | chr16 | 2057129 | C | A |
c.799C>A
|
p.His267Asn
|
- | 3.0 |
|
B | |
| 2511 | chr16 | 2058776 | G | T |
c.878G>T
|
p.Arg293Ile
|
- | 4.0 |
|
B | |
| 19146 | chr16 | 2058797 | G | T |
c.899G>T
|
p.Gly300Val
|
- | 3.0 |
|
B | |
| 8485 | chr16 | 2058863 | C | G |
c.965C>G
|
p.Ser322Ter
|
- | 4.0 |
|
B | |
| 21540 | chr16 | 2058881 | G | A |
c.975+8G>A
|
-
|
2.0 |
|
B | ||
| 28324 | chr16 | 2060655 | G | A |
c.976-15G>A
|
-
|
3.0 |
|
B | ||
| 24163 | chr16 | 2060734 | A | AG |
c.1041dup
|
p.Lys348GlufsTer3
|
- | 4.0 |
|
B | |
| 7508 | chr16 | 2060754 | C | T |
c.1060C>T
|
p.Gln354Ter
|
4.0 |
|
B | ||
| 21541 | chr16 | 2061855 | G | A |
c.1120-16G>A
|
-
|
2.0 |
|
B | ||
| 2740 | chr16 | 2061886 | G | A |
c.1135G>A
|
p.Glu379Lys
|
- | 3.0 |
|
B |