Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14399 | chr16 | 89282236 | C | A |
c.4306G>T
|
p.Glu1436Ter
|
- | 4.0 |
|
B | |
| 29967 | chr16 | 89282452 | C | G |
c.4090G>C
|
p.Glu1364Gln
|
- | 3.0 |
|
B | |
| 29969 | chr16 | 89282518 | C | T |
c.4024G>A
|
p.Glu1342Lys
|
- | 3.0 |
|
B | |
| 18475 | chr16 | 89282895 | T | C |
c.3647A>G
|
p.Lys1216Arg
|
- | 3.0 |
|
B | |
| 29970 | chr16 | 89282979 | C | T |
c.3563G>A
|
p.Arg1188Gln
|
3.0 |
|
B | ||
| 29972 | chr16 | 89283021 | T | G |
c.3521A>C
|
p.Glu1174Ala
|
- | 3.0 |
|
B | |
| 12401 | chr16 | 89283088 | TCTC | T |
c.3451_3453del
|
p.Glu1151del
|
- | 3.0 |
|
B | |
| 29428 | chr16 | 89283125 | C | G |
c.3417G>C
|
p.Glu1139Asp
|
3.0 |
|
B | ||
| 29974 | chr16 | 89283129 | C | G |
c.3413G>C
|
p.Gly1138Ala
|
- | 3.0 |
|
B | |
| 29975 | chr16 | 89283325 | C | G |
c.3217G>C
|
p.Asp1073His
|
- | 3.0 |
|
B | |
| 16038 | chr16 | 89283450 | TTC | T |
c.3090_3091del
|
p.Lys1031IlefsTer3
|
- | 3.5 |
|
B | |
| 29977 | chr16 | 89283479 | C | G |
c.3063G>C
|
p.Glu1021Asp
|
- | 3.0 |
|
B | |
| 21824 | chr16 | 89283520 | C | G |
c.3022G>C
|
p.Glu1008Gln
|
- | 3.0 |
|
B | |
| 29979 | chr16 | 89283596 | C | G |
c.2946G>C
|
p.Glu982Asp
|
2.0 |
|
B | ||
| 29981 | chr16 | 89283725 | C | G |
c.2817G>C
|
p.Lys939Asn
|
3.0 |
|
B | ||
| 17051 | chr16 | 89283738 | G | T |
c.2804C>A
|
p.Ser935Ter
|
- | 3.5 |
|
B | |
| 22234 | chr16 | 89283864 | C | T |
c.2678G>A
|
p.Arg893Gln
|
2.0 |
|
B | ||
| 29982 | chr16 | 89283892 | C | A |
c.2650G>T
|
p.Asp884Tyr
|
3.0 |
|
B | ||
| 30923 | chr16 | 89284114 | C | T |
c.2428G>A
|
p.Glu810Lys
|
- | 3.0 |
|
B | |
| 25956 | chr16 | 89284144 | C | T |
c.2398G>A
|
p.Glu800Lys
|
- | 3.0 |
|
B |