Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35643 | chr5 | 132604931 | C | T |
c.2650C>T
|
p.Arg884Cys
|
3.0 |
|
B | ||
| 30358 | chr5 | 132604937 | C | T |
c.2656C>T
|
p.Gln886Ter
|
- | 3.5 |
|
B | |
| 4981 | chr5 | 132604965 | C | T |
c.2684C>T
|
p.Ser895Phe
|
- | 3.0 |
|
B | |
| 15395 | chr5 | 132608596 | A | G |
c.2719-19A>G
|
-
|
- | 2.0 |
|
B | |
| 3798 | chr5 | 132609392 | A | G |
c.3032A>G
|
p.Gln1011Arg
|
- | 3.0 |
|
B | |
| 28521 | chr5 | 132616100 | T | C |
c.3134T>C
|
p.Met1045Thr
|
- | 3.0 |
|
B | |
| 14405 | chr5 | 132618139 | G | C |
c.3234G>C
|
p.Gln1078His
|
- | 3.0 |
|
B | |
| 19458 | chr5 | 132638101 | C | T |
c.3496C>T
|
p.Arg1166Trp
|
2.5 |
|
B | ||
| 5294 | chr5 | 132638228 | G | A |
c.3618+5G>A
|
-
|
3.0 |
|
B | ||
| 15086 | chr5 | 132640682 | C | G |
c.3629C>G
|
p.Ser1210Ter
|
- | 3.5 |
|
B | |
| 18998 | chr5 | 132640706 | C | A |
c.3653C>A
|
p.Ala1218Asp
|
- | 3.0 |
|
B | |
| 4020 | chr5 | 132640706 | C | T |
c.3653C>T
|
p.Ala1218Val
|
- | 3.0 |
|
B | |
| 30037 | chr5 | 132640769 | G | A |
c.3716G>A
|
p.Arg1239Gln
|
3.0 |
|
B | ||
| 18942 | chr5 | 132642226 | C | G |
c.3801C>G
|
p.Ile1267Met
|
- | 3.0 |
|
B | |
| 13666 | chr5 | 132642260 | C | T |
c.3835C>T
|
p.Arg1279Cys
|
3.0 |
|
B | ||
| 21706 | chr5 | 132883440 | C | G |
c.3264G>C
|
p.Lys1088Asn
|
- | 3.0 |
|
B | |
| 11613 | chr5 | 132885076 | C | G |
c.3143G>C
|
p.Ser1048Thr
|
- | 3.0 |
|
B | |
| 26647 | chr5 | 132887605 | A | G |
c.2934-13T>C
|
-
|
- | 3.0 |
|
B | |
| 33538 | chr5 | 132887898 | G | C |
c.2881C>G
|
p.Gln961Glu
|
- | 3.0 |
|
B | |
| 15396 | chr5 | 132887970 | C | T |
c.2809G>A
|
p.Glu937Lys
|
- | 3.0 |
|
B |