Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35518 | chr10 | 102396291 | G | GA |
c.62dup
|
p.Asn21LysfsTer16
|
- | 3.0 |
|
B | |
| 17326 | chr10 | 102396748 | C | T |
c.168C>T
|
p.Gly56=
|
- | 3.0 |
|
B | |
| 33208 | chr10 | 102397051 | G | A |
c.391G>A
|
p.Ala131Thr
|
- | 3.0 |
|
B | |
| 25574 | chr10 | 102397290 | C | G |
c.396-12C>G
|
-
|
- | 3.0 |
|
B | |
| 27674 | chr10 | 102397532 | G | T |
c.508G>T
|
p.Glu170Ter
|
- | 3.0 |
|
B | |
| 2536 | chr10 | 102398401 | G | A |
-
c.869G>A
|
-
p.Arg290Gln
|
- | 3.0 |
|
B | |
| 1596 | chr10 | 102398763 | G | A |
-
c.1016G>A
|
-
p.Arg339Gln
|
3.0 |
|
B | ||
| 28093 | chr10 | 102398855 | G | A |
-
c.1108G>A
|
-
p.Ala370Thr
|
- | 3.0 |
|
B | |
| 1477 | chr10 | 102399426 | A | G |
-
c.1256A>G
|
-
p.Glu419Gly
|
- | 3.0 |
|
B | |
| 10207 | chr10 | 102399629 | C | T |
-
c.1380C>T
|
-
p.Ala460=
|
2.5 |
|
B | ||
| 23362 | chr10 | 102400321 | T | G |
-
c.1628T>G
|
-
p.Val543Gly
|
- | 3.0 |
|
B | |
| 21668 | chr10 | 102400335 | C | G |
-
c.1642C>G
|
-
p.Arg548Gly
|
3.0 |
|
B | ||
| 30960 | chr10 | 102400983 | AAC | A |
-
c.2010_2011del
|
-
p.Leu672AlafsTer21
|
- | 3.0 |
|
B | |
| 7273 | chr10 | 102401437 | C | A |
-
c.2224-12C>A
|
-
-
|
- | 3.0 |
|
B | |
| 24664 | chr10 | 102401832 | T | A |
-
c.2381T>A
|
-
p.Leu794Gln
|
- | 3.0 |
|
B | |
| 1506 | chr10 | 102402060 | G | A |
-
c.2479G>A
|
-
p.Asp827Asn
|
3.0 |
|
B | ||
| 6570 | chr10 | 102402105 | G | T |
-
c.2524G>T
|
-
p.Glu842Ter
|
- | 3.0 |
|
B | |
| 15400 | chr10 | 102504216 | G | GC |
c.71dup
-
|
p.Ala25GlyfsTer23
-
|
4.5 |
|
B | ||
| 8127 | chr10 | 102509261 | G | T |
c.275G>T
|
p.Ser92Ile
|
- | 3.0 |
|
B | |
| 27795 | chr10 | 102509281 | T | G |
c.295T>G
|
p.Tyr99Asp
|
- | 3.0 |
|
B |