Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13703 | chr12 | 51985216 | A | G |
c.1004A>G
|
p.Asp335Gly
|
- | 3.0 |
|
B | |
| 22603 | chr12 | 51985236 | C | G |
c.1024C>G
|
p.Leu342Val
|
- | 3.0 |
|
B | |
| 6022 | chr12 | 51985279 | T | G |
c.1067T>G
|
p.Leu356Arg
|
- | 3.0 |
|
B | |
| 1011 | chr12 | 51986887 | T | A |
c.1206T>A
|
p.Asp402Glu
|
- | 3.0 |
|
B | |
| 2957 | chr12 | 51991908 | C | T |
c.1307C>T
|
p.Ser436Phe
|
- | 3.0 |
|
B | |
| 6710 | chr12 | 51991931 | C | T |
c.1330C>T
|
p.Arg444Ter
|
- | 4.0 |
|
B | |
| 12409 | chr12 | 51991949 | C | T |
c.1348C>T
|
p.Gln450Ter
|
- | 3.5 |
|
B | |
| 23930 | chr12 | 51991958 | C | T |
c.1357C>T
|
p.Arg453Cys
|
3.0 |
|
B | ||
| 13241 | chr12 | 51991961 | C | T |
c.1360C>T
|
p.Pro454Ser
|
- | 3.0 |
|
B | |
| 14693 | chr12 | 51993965 | G | A |
c.1393-20G>A
|
-
|
- | 3.0 |
|
B | |
| 3059 | chr12 | 51994012 | C | T |
c.1420C>T
|
p.Arg474Ter
|
4.0 |
|
B | ||
| 6093 | chr12 | 51994057 | C | G |
c.1465C>G
|
p.Arg489Gly
|
- | 3.0 |
|
B | |
| 3687 | chr12 | 52378380 | G | A |
c.1457C>T
|
p.Ser486Phe
|
- | 3.0 |
|
B | |
| 34514 | chr12 | 52791696 | T | C |
c.1309A>G
|
p.Lys437Glu
|
- | 3.0 |
|
B | |
| 4525 | chr12 | 52794240 | T | C |
c.737A>G
|
p.Asn246Ser
|
- | 3.0 |
|
B | |
| 19887 | chr12 | 54011395 | AC | A |
c.*25del
|
-
|
1.0 |
|
B | ||
| 3444 | chr12 | 55026869 | G | A |
c.430G>A
|
p.Glu144Lys
|
3.0 |
|
B | ||
| 20070 | chr12 | 55365407 | AT | A |
c.305del
|
p.Phe102SerfsTer6
|
2.0 |
|
B | ||
| 13365 | chr12 | 55427174 | CA | C |
c.933del
|
p.Lys311AsnfsTer10
|
1.0 |
|
B | ||
| 23806 | chr12 | 55492705 | T | A |
c.328T>A
|
p.Phe110Ile
|
- |
|
B |