Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1995 | chr12 | 11880106 | T | G |
c.1010-4339T>G
|
-
|
- | 3.0 |
|
B | |
| 4237 | chr12 | 11883550 | T | C |
c.1010-895T>C
|
-
|
3.0 |
|
B | ||
| 13525 | chr12 | 11884544 | T | G |
c.1109T>G
|
p.Ile370Arg
|
- | 3.0 |
|
B | |
| 33595 | chr12 | 11885938 | A | T |
c.1165A>T
|
p.Met389Leu
|
- | 3.0 |
|
B | |
| 3783 | chr12 | 11885951 | A | G |
c.1178A>G
|
p.Lys393Arg
|
- | 3.0 |
|
B | |
| 11047 | chr12 | 11885992 | A | T |
c.1219A>T
|
p.Ile407Phe
|
- | 3.0 |
|
B | |
| 22068 | chr12 | 11890985 | G | A |
c.1298G>A
|
p.Arg433His
|
3.0 |
|
B | ||
| 4723 | chr12 | 12477580 | T | TA |
c.1250dup
|
p.Leu417PhefsTer45
|
- | 3.0 |
|
B | |
| 24252 | chr12 | 12717408 | TA | T |
c.-425del
|
-
|
- | 3.0 |
|
B | |
| 14948 | chr12 | 12717896 | G | A |
c.57G>A
|
p.Arg19=
|
2.5 |
|
B | ||
| 888 | chr12 | 12717904 | A | AGC |
c.66_67dup
|
p.His23ArgfsTer20
|
- | 4.0 |
|
B | |
| 20754 | chr12 | 12717919 | C | A |
c.80C>A
|
p.Ser27Ter
|
- | 4.0 |
|
B | |
| 11656 | chr12 | 12717945 | G | GT |
c.107dup
|
p.Asp37GlyfsTer88
|
- | 4.0 |
|
B | |
| 5408 | chr12 | 12717955 | AAG | A |
c.119_120del
|
p.Glu40ValfsTer84
|
4.0 |
|
B | ||
| 10451 | chr12 | 12717976 | AGAAGCACTGCAGAGACATG | A |
c.142_160del
|
p.His48ArgfsTer17
|
- | 4.0 |
|
B | |
| 955 | chr12 | 12718091 | G | GC |
c.255dup
|
p.Glu86ArgfsTer39
|
- | 4.0 |
|
B | |
| 6191 | chr12 | 12718118 | GC | G |
c.285del
|
p.Gly97ValfsTer22
|
- | 4.0 |
|
B | |
| 29947 | chr12 | 12718176 | CGCCCGGCGGCGCCTTT | C |
c.338_353del
|
p.Arg113GlnfsTer27
|
- | 4.0 |
|
B | |
| 26479 | chr12 | 12718234 | A | AC |
c.398dup
|
p.Thr135AspfsTer2
|
- | 4.0 |
|
B | |
| 1943 | chr12 | 12718253 | G | C |
c.414G>C
|
p.Ser138=
|
- | 2.5 |
|
B |