Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4853 | chr14 | 64143820 | A | G |
c.15355A>G
|
p.Asn5119Asp
|
- | 3.0 |
|
B | |
| 4750 | chr14 | 64190238 | G | A |
c.18038+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 33801 | chr14 | 64202855 | G | A |
c.18093G>A
|
p.Met6031Ile
|
- | 3.0 |
|
B | |
| 31630 | chr14 | 64220614 | C | T |
c.20038C>T
|
p.Arg6680Ter
|
3.0 |
|
B | ||
| 10998 | chr14 | 64228031 | T | G |
-
-
|
-
-
|
1.0 |
|
B | ||
| 33009 | chr14 | 64249562 | C | T |
c.1209G>A
|
p.Met403Ile
|
- | 3.0 |
|
B | |
| 12101 | chr14 | 64257312 | C | A |
c.1005G>T
|
p.Trp335Cys
|
- | 3.0 |
|
B | |
| 2012 | chr14 | 64257331 | C | T |
c.986G>A
|
p.Arg329Gln
|
3.0 |
|
B | ||
| 19739 | chr14 | 64257339 | G | T |
c.978C>A
|
p.Asp326Glu
|
- | 3.0 |
|
B | |
| 8653 | chr14 | 64260695 | C | T |
c.706G>A
|
p.Asp236Asn
|
3.0 |
|
B | ||
| 7424 | chr14 | 64260713 | G | A |
c.688C>T
|
p.Arg230Trp
|
- | 3.0 |
|
B | |
| 18242 | chr14 | 64260715 | A | T |
c.686T>A
|
p.Val229Glu
|
3.0 |
|
B | ||
| 2115 | chr14 | 64260745 | G | C |
c.656C>G
|
p.Ser219Cys
|
- | 3.0 |
|
B | |
| 22374 | chr14 | 64260751 | G | A |
c.653-3C>T
|
-
|
- | 3.0 |
|
B | |
| 28815 | chr14 | 64268816 | C | T |
c.631G>A
|
p.Glu211Lys
|
3.0 |
|
B | ||
| 12838 | chr14 | 64268929 | G | A |
c.536-18C>T
|
-
|
3.0 |
|
B | ||
| 20127 | chr14 | 64268930 | GA | G |
c.536-20del
|
-
|
3.0 |
|
B | ||
| 3252 | chr14 | 64282673 | T | C |
c.313A>G
|
p.Ser105Gly
|
- | 3.0 |
|
B | |
| 31631 | chr14 | 64282678 | T | A |
c.308A>T
|
p.Gln103Leu
|
- | 3.0 |
|
B | |
| 26082 | chr14 | 64282699 | G | A |
c.287C>T
|
p.Ser96Leu
|
- | 3.0 |
|
B |