Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31295 | chr16 | 65004852 | A | C |
c.18T>G
|
p.Cys6Trp
|
- | 3.0 |
|
B | |
| 5216 | chr16 | 66402919 | C | T |
c.2105C>T
|
p.Pro702Leu
|
- | 3.0 |
|
B | |
| 3451 | chr16 | 66916401 | C | T |
c.158G>A
|
p.Gly53Asp
|
- | 3.0 |
|
B | |
| 23831 | chr16 | 67029707 | C | T |
c.79-20C>T
|
-
|
3.0 |
|
B | ||
| 29300 | chr16 | 67029710 | G | A |
c.79-17G>A
|
-
|
- | 3.0 |
|
B | |
| 9141 | chr16 | 67029746 | GGGACCGGCCCC | G |
c.99_109del
|
p.Asp34ArgfsTer45
|
- | 4.0 |
|
B | |
| 6431 | chr16 | 67029814 | G | GT |
c.165+2dup
|
-
|
- | 4.0 |
|
B | |
| 35624 | chr16 | 67036596 | AATGTCCTGCTCCTGATCCTGTTTGTAT | A |
c.166-42_166-16del
|
-
|
- | 3.0 |
|
B | |
| 7951 | chr16 | 67036655 | G | A |
c.182G>A
|
p.Gly61Glu
|
- | 3.0 |
|
B | |
| 33522 | chr16 | 67066782 | A | T |
c.383A>T
|
p.Asp128Val
|
- | 3.0 |
|
B | |
| 14818 | chr16 | 67082267 | G | T |
c.454G>T
|
p.Glu152Ter
|
- | 4.0 |
|
B | |
| 3709 | chr16 | 67169694 | C | G |
c.1388C>G
-
|
p.Ala463Gly
-
|
- | 3.0 |
|
B | |
| 33989 | chr16 | 67610893 | G | GA |
c.62dup
|
p.Arg22GlufsTer28
|
- | 4.0 |
|
B | |
| 8793 | chr16 | 67611286 | C | T |
c.454C>T
|
p.Pro152Ser
|
- | 3.0 |
|
B | |
| 7551 | chr16 | 67611435 | C | CA |
c.610dup
|
p.Thr204AsnfsTer26
|
4.5 |
|
B | ||
| 31871 | chr16 | 67611435 | CA | C |
c.610del
|
p.Thr204GlnfsTer18
|
- | 4.0 |
|
B | |
| 15052 | chr16 | 67611447 | G | C |
c.615G>C
|
p.Lys205Asn
|
- | 3.0 |
|
B | |
| 34092 | chr16 | 67611484 | G | C |
c.652G>C
|
p.Gly218Arg
|
- | 3.0 |
|
B | |
| 2369 | chr16 | 67611564 | A | C |
c.732A>C
|
p.Lys244Asn
|
- | 3.0 |
|
B | |
| 8015 | chr16 | 67611960 | A | C |
c.791A>C
|
p.Lys264Thr
|
- | 3.0 |
|
B |