Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18143 | chr12 | 70571149 | G | A |
c.3247C>T
|
p.His1083Tyr
|
- | 3.0 |
|
B | |
| 14897 | chr12 | 70571194 | C | T |
c.3202G>A
|
p.Glu1068Lys
|
- | 3.0 |
|
B | |
| 23518 | chr12 | 70571229 | G | T |
c.3167C>A
|
p.Thr1056Asn
|
- | 3.0 |
|
B | |
| 22363 | chr12 | 70571295 | G | A |
c.3107-6C>T
|
-
|
3.0 |
|
B | ||
| 17587 | chr12 | 70571926 | C | T |
c.3004G>A
|
p.Glu1002Lys
|
3.0 |
|
B | ||
| 23660 | chr12 | 70581108 | G | T |
c.2506C>A
|
p.Leu836Met
|
3.0 |
|
B | ||
| 6555 | chr12 | 70581144 | TG | T |
c.2469del
|
p.Ser824AlafsTer18
|
- | 4.0 |
|
B | |
| 20615 | chr12 | 70581217 | G | T |
c.2397C>A
|
p.Asp799Glu
|
- | 3.0 |
|
B | |
| 19723 | chr12 | 70581321 | GA | G |
c.2312-20del
|
-
|
- | 3.0 |
|
B | |
| 5768 | chr12 | 70587078 | C | T |
c.2240G>A
|
p.Arg747Gln
|
3.0 |
|
B | ||
| 10362 | chr12 | 70587136 | G | A |
c.2182C>T
|
p.His728Tyr
|
- | 3.0 |
|
B | |
| 7888 | chr12 | 70587142 | G | T |
c.2176C>A
|
p.Leu726Met
|
- | 3.0 |
|
B | |
| 7087 | chr12 | 70587165 | G | A |
c.2153C>T
|
p.Ser718Phe
|
3.0 |
|
B | ||
| 10212 | chr12 | 70590162 | G | A |
c.1852C>T
|
p.Pro618Ser
|
3.0 |
|
B | ||
| 9987 | chr12 | 70592368 | T | C |
c.1694A>G
|
p.Glu565Gly
|
- | 3.0 |
|
B | |
| 18144 | chr12 | 70592510 | C | T |
c.1552G>A
|
p.Asp518Asn
|
- | 3.0 |
|
B | |
| 15031 | chr12 | 70594447 | GCTAGCTAGGGGGAACTTAC | G |
c.1516+1_1516+19del
|
p.?
|
- | 4.0 |
|
B | |
| 6347 | chr12 | 70594483 | C | T |
c.1500G>A
|
p.Trp500Ter
|
4.0 |
|
B | ||
| 32870 | chr12 | 70594557 | G | A |
c.1426C>T
|
p.His476Tyr
|
- | 3.0 |
|
B | |
| 27169 | chr12 | 70594686 | C | T |
c.1297G>A
|
p.Ala433Thr
|
- | 3.0 |
|
B |