Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17810 | chr16 | 72959829 | G | A |
c.317C>T
|
p.Pro106Leu
|
- | 3.0 |
|
B | |
| 9566 | chr16 | 72959911 | C | T |
c.235G>A
|
p.Val79Ile
|
- | 3.0 |
|
B | |
| 17506 | chr16 | 74623992 | A | G |
c.2261T>C
|
p.Val754Ala
|
- | 3.0 |
|
B | |
| 29807 | chr16 | 74630890 | G | C |
c.1645C>G
|
p.Leu549Val
|
- | 3.0 |
|
B | |
| 33185 | chr16 | 74636495 | G | A |
c.1277C>T
|
p.Pro426Leu
|
3.0 |
|
B | ||
| 23087 | chr16 | 74644557 | A | T |
c.971T>A
|
p.Val324Glu
|
- | 3.0 |
|
B | |
| 21410 | chr16 | 74644633 | C | A |
c.895G>T
|
p.Asp299Tyr
|
- | 3.0 |
|
B | |
| 27714 | chr16 | 74651913 | T | C |
c.721+7A>G
|
-
|
- | 3.0 |
|
B | |
| 16619 | chr16 | 74651990 | G | T |
c.651C>A
|
p.Asp217Glu
|
- | 3.0 |
|
B | |
| 25700 | chr16 | 74661079 | A | G |
c.371T>C
|
p.Ile124Thr
|
- | 3.0 |
|
B | |
| 34399 | chr16 | 74661404 | G | T |
c.46C>A
|
p.His16Asn
|
- | 3.0 |
|
B | |
| 2693 | chr16 | 75541360 | C | T |
c.760G>A
|
p.Glu254Lys
|
- | 3.0 |
|
B | |
| 4287 | chr16 | 75631176 | G | A |
c.1330C>T
|
p.Leu444Phe
|
- | 3.0 |
|
B | |
| 3710 | chr16 | 75648128 | GTACA | G |
-
c.248_251del
|
-
p.Tyr83SerfsTer59
|
- | 3.0 |
|
B | |
| 3711 | chr16 | 75648135 | C | CAGGA |
-
c.253_254insAGGA
|
-
p.Leu85GlnfsTer78
|
- | 3.0 |
|
B | |
| 3712 | chr16 | 75648138 | G | T |
-
c.256G>T
|
-
p.Asp86Tyr
|
- | 3.0 |
|
B | |
| 3289 | chr16 | 77194587 | T | G |
c.728T>G
-
|
p.Leu243Arg
-
|
- | 3.0 |
|
B | |
| 5217 | chr16 | 77335827 | C | T |
c.1788G>A
|
p.Ser596=
|
2.5 |
|
B | ||
| 4104 | chr16 | 81035884 | AGGC | A |
c.29_31del
-
|
p.Ala10del
-
|
2.0 |
|
B | ||
| 3713 | chr16 | 81154259 | C | T |
c.4205G>A
|
p.Arg1402Gln
|
3.0 |
|
B |