Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14821 | chr16 | 9840918 | G | A |
c.1497+18C>T
|
-
|
3.0 |
|
B | ||
| 23243 | chr16 | 9840962 | T | G |
c.1471A>C
|
p.Asn491His
|
- | 3.0 |
|
B | |
| 7090 | chr16 | 9841049 | C | T |
c.1384G>A
|
p.Asp462Asn
|
3.0 |
|
B | ||
| 30651 | chr16 | 9849753 | C | T |
c.1328+3G>A
|
-
|
3.0 |
|
B | ||
| 22126 | chr16 | 9849784 | C | T |
c.1300G>A
|
p.Val434Met
|
- | 3.0 |
|
B | |
| 27481 | chr16 | 9849849 | T | A |
c.1235A>T
|
p.Glu412Val
|
- | 3.0 |
|
B | |
| 7207 | chr16 | 9849965 | C | A |
c.1123-4G>T
|
-
|
- | 3.0 |
|
B | |
| 26150 | chr16 | 9849976 | C | A |
c.1123-15G>T
|
-
|
- | 3.0 |
|
B | |
| 23756 | chr16 | 9890991 | C | T |
c.1117G>A
|
p.Glu373Lys
|
- | 3.0 |
|
B | |
| 34350 | chr16 | 9891051 | C | T |
c.1057G>A
|
p.Glu353Lys
|
2.0 |
|
B | ||
| 21708 | chr16 | 9937958 | C | T |
c.1007+1G>A
|
p.?
|
4.0 |
|
B | ||
| 25384 | chr16 | 9937959 | G | T |
c.1007C>A
|
p.Pro336Gln
|
- | 3.0 |
|
B | |
| 34314 | chr16 | 9937977 | G | A |
c.989C>T
|
p.Pro330Leu
|
2.5 |
|
B | ||
| 10384 | chr16 | 9938005 | A | T |
c.961T>A
|
p.Tyr321Asn
|
- | 3.0 |
|
B | |
| 1997 | chr16 | 9938079 | A | G |
c.887T>C
|
p.Ile296Thr
|
- | 3.0 |
|
B | |
| 8009 | chr16 | 9938302 | T | G |
c.664A>C
|
p.Ile222Leu
|
- | 3.0 |
|
B | |
| 6123 | chr16 | 9938312 | C | A |
c.654G>T
|
p.Gln218His
|
- | 3.0 |
|
B | |
| 28236 | chr16 | 9938390 | G | C |
c.576C>G
|
p.Asp192Glu
|
- | 3.0 |
|
B | |
| 26918 | chr16 | 10180007 | C | T |
c.405G>A
|
p.Met135Ile
|
- | 3.0 |
|
B | |
| 20139 | chr16 | 10180180 | C | T |
c.232G>A
|
p.Asp78Asn
|
3.0 |
|
B |