Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16209 | chr16 | 72798682 | GCAAGATGTTCTTTCCCAGA | G |
c.3981_3999del
|
p.Leu1328HisfsTer11
|
- | 4.0 |
|
B | |
| 23367 | chr16 | 72800010 | A | C |
c.3967+17T>G
|
-
|
- | 3.0 |
|
B | |
| 16485 | chr16 | 72800059 | T | C |
c.3935A>G
|
p.Asn1312Ser
|
- | 3.0 |
|
B | |
| 24484 | chr16 | 72800069 | G | A |
c.3925C>T
|
p.Arg1309Ter
|
4.0 |
|
B | ||
| 1028 | chr16 | 72811631 | G | T |
c.3810C>A
|
p.His1270Gln
|
- | 3.0 |
|
B | |
| 14677 | chr16 | 72811771 | G | A |
c.3670C>T
|
p.Gln1224Ter
|
- | 4.0 |
|
B | |
| 14611 | chr16 | 72811912 | G | A |
c.3656C>T
|
p.Pro1219Leu
|
3.0 |
|
B | ||
| 11938 | chr16 | 72812054 | G | C |
c.3530-16C>G
|
-
|
- | 3.0 |
|
B | |
| 32505 | chr16 | 72889718 | T | G |
c.3448+13A>C
|
-
|
- | 3.0 |
|
B | |
| 6954 | chr16 | 72889764 | A | T |
c.3415T>A
|
p.Phe1139Ile
|
- | 3.0 |
|
B | |
| 28127 | chr16 | 72889857 | G | T |
c.3322C>A
|
p.Arg1108Ser
|
- | 3.0 |
|
B | |
| 26288 | chr16 | 72889928 | T | C |
c.3251A>G
|
p.Glu1084Gly
|
- | 3.0 |
|
B | |
| 29163 | chr16 | 72950635 | T | A |
c.3050A>T
|
p.His1017Leu
|
- | 3.0 |
|
B | |
| 2266 | chr16 | 72950733 | G | T |
c.2952C>A
|
p.Tyr984Ter
|
- | 4.0 |
|
B | |
| 2923 | chr16 | 72950768 | C | T |
c.2917G>A
|
p.Glu973Lys
|
- | 3.0 |
|
B | |
| 1610 | chr16 | 72950968 | G | T |
c.2720-3C>A
|
-
|
- | 4.0 |
|
B | |
| 11842 | chr16 | 72950985 | G | A |
c.2720-20C>T
|
-
|
3.0 |
|
B | ||
| 8735 | chr16 | 72957555 | T | C |
c.2591A>G
|
p.Tyr864Cys
|
3.0 |
|
B | ||
| 23146 | chr16 | 72957579 | G | A |
c.2567C>T
|
p.Pro856Leu
|
3.0 |
|
B | ||
| 23255 | chr16 | 72957625 | G | A |
c.2521C>T
|
p.Gln841Ter
|
- | 4.0 |
|
B |