Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17459 | chr16 | 88892501 | G | A |
c.380-16C>T
|
-
|
3.0 |
|
B | ||
| 21488 | chr16 | 88898106 | GCCATGAAAACGGC | G |
c.338_350del
|
p.Gly113AlafsTer3
|
- | 4.0 |
|
B | |
| 35261 | chr16 | 88898160 | C | T |
c.305-8G>A
|
-
|
- | 3.0 |
|
B | |
| 28197 | chr16 | 88976674 | G | A |
c.134C>T
|
p.Pro45Leu
|
3.0 |
|
B | ||
| 18809 | chr16 | 88976679 | C | T |
c.129G>A
|
p.Arg43=
|
3.0 |
|
B | ||
| 24918 | chr16 | 88976821 | C | A |
c.-14G>T
|
-
|
- | 3.0 |
|
B | |
| 20108 | chr16 | 89270804 | G | A |
c.7806+13C>T
|
-
|
3.0 |
|
B | ||
| 33578 | chr16 | 89270888 | G | A |
c.7735C>T
|
p.Arg2579Cys
|
3.0 |
|
B | ||
| 18609 | chr16 | 89275189 | G | A |
c.7473C>T
|
p.Ile2491=
|
2.0 |
|
B | ||
| 20109 | chr16 | 89279057 | G | A |
c.7470+15C>T
|
-
|
3.0 |
|
B | ||
| 23988 | chr16 | 89279115 | T | TAGGA |
c.7423_7426dup
|
p.Tyr2476PhefsTer57
|
- | 4.0 |
|
B | |
| 33026 | chr16 | 89279275 | TGATGGCGTCCAC | T |
c.7255_7266del
|
p.Val2419_Ile2422del
|
3.0 |
|
B | ||
| 29958 | chr16 | 89279303 | C | A |
c.7239G>T
|
p.Gln2413His
|
- | 3.0 |
|
B | |
| 23933 | chr16 | 89279421 | GAGCCGCGGGCCTTGGC | G |
c.7105_7120del
|
p.Ala2369ProfsTer27
|
- | 3.5 |
|
B | |
| 23923 | chr16 | 89279694 | T | G |
c.6848A>C
|
p.Gln2283Pro
|
- | 3.0 |
|
B | |
| 17108 | chr16 | 89279695 | G | A |
c.6847C>T
|
p.Gln2283Ter
|
3.5 |
|
B | ||
| 30500 | chr16 | 89279701 | G | A |
c.6841C>T
|
p.Gln2281Ter
|
- | 3.5 |
|
B | |
| 27280 | chr16 | 89279749 | C | CG |
c.6792dup
|
p.Ala2265ArgfsTer8
|
4.0 |
|
B | ||
| 20107 | chr16 | 89279749 | CG | C |
c.6792del
|
p.Ala2265ProfsTer72
|
4.0 |
|
B | ||
| 29959 | chr16 | 89279761 | C | A |
c.6781G>T
|
p.Glu2261Ter
|
- | 4.0 |
|
B |