Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31495 | chr12 | 40225148 | G | T |
c.17G>T
|
p.Cys6Phe
|
- | 3.0 |
|
B | |
| 723 | chr12 | 40225206 | T | A |
c.75T>A
|
p.Asn25Lys
|
- | 3.0 |
|
B | |
| 16796 | chr12 | 40225237 | G | A |
c.106G>A
|
p.Val36Ile
|
- | 3.0 |
|
B | |
| 28464 | chr12 | 40225281 | C | T |
c.150C>T
|
p.Arg50=
|
- | 3.0 |
|
B | |
| 6090 | chr12 | 40225623 | G | C |
c.220G>C
|
p.Val74Leu
|
- | 3.0 |
|
B | |
| 31133 | chr12 | 40232281 | G | T |
c.245G>T
|
p.Trp82Leu
|
- | 3.0 |
|
B | |
| 7450 | chr12 | 40232350 | T | C |
c.314T>C
|
p.Val105Ala
|
3.0 |
|
B | ||
| 4937 | chr12 | 40232374 | G | C |
c.338G>C
|
p.Gly113Ala
|
- | 3.0 |
|
B | |
| 9307 | chr12 | 40238019 | A | C |
c.487A>C
|
p.Ile163Leu
|
- | 3.0 |
|
B | |
| 5560 | chr12 | 40238027 | T | G |
c.495T>G
|
p.Asp165Glu
|
- | 3.0 |
|
B | |
| 5132 | chr12 | 40238091 | C | G |
c.559C>G
|
p.Leu187Val
|
- | 3.0 |
|
B | |
| 5133 | chr12 | 40238100 | A | G |
c.568A>G
|
p.Arg190Gly
|
- | 3.0 |
|
B | |
| 28706 | chr12 | 40240560 | G | A |
c.649G>A
|
p.Asp217Asn
|
- | 3.0 |
|
B | |
| 7539 | chr12 | 40240569 | G | A |
c.658G>A
|
p.Glu220Lys
|
- | 3.0 |
|
B | |
| 27626 | chr12 | 40251463 | A | C |
c.1102-2A>C
|
p.?
|
- | 3.5 |
|
B | |
| 2675 | chr12 | 40251471 | G | A |
c.1108G>A
|
p.Ala370Thr
|
3.0 |
|
B | ||
| 13260 | chr12 | 40251526 | T | C |
c.1163T>C
|
p.Ile388Thr
|
3.0 |
|
B | ||
| 19716 | chr12 | 40252899 | A | T |
c.1182-11A>T
|
-
|
- | 3.0 |
|
B | |
| 31372 | chr12 | 40252943 | G | T |
c.1215G>T
|
p.Met405Ile
|
- | 3.0 |
|
B | |
| 26889 | chr12 | 40252996 | C | A |
c.1268C>A
|
p.Ser423Ter
|
- | 3.0 |
|
B |