Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27097 | chr6 | 111719823 | G | A |
c.229C>T
|
p.Arg77Cys
|
3.0 |
|
B | ||
| 33724 | chr6 | 111719865 | C | T |
c.187G>A
|
p.Val63Ile
|
3.0 |
|
B | ||
| 21056 | chr6 | 111719870 | A | G |
c.182T>C
|
p.Leu61Pro
|
- | 3.0 |
|
B | |
| 21382 | chr6 | 112054336 | G | A |
c.-22G>A
|
-
|
- | 3.0 |
|
B | |
| 6905 | chr6 | 112061042 | A | T |
c.100A>T
|
p.Arg34Trp
|
- | 3.0 |
|
B | |
| 25183 | chr6 | 112061108 | C | T |
c.166C>T
|
p.Gln56Ter
|
- | 3.5 |
|
B | |
| 17007 | chr6 | 112061167 | T | G |
c.225T>G
|
p.Cys75Trp
|
- | 3.0 |
|
B | |
| 1522 | chr6 | 112061270 | G | A |
c.328G>A
|
p.Glu110Lys
|
3.0 |
|
B | ||
| 29074 | chr6 | 112064932 | ATCAG | A |
c.528_531del
|
p.Ser177ThrfsTer54
|
- | 3.5 |
|
B | |
| 20328 | chr6 | 112068230 | G | GA |
-
c.624dup
|
-
p.Cys209MetfsTer21
|
3.5 |
|
B | ||
| 15933 | chr6 | 112068230 | GA | G |
-
c.624del
|
-
p.Lys208AsnfsTer24
|
3.5 |
|
B | ||
| 16324 | chr6 | 112069387 | G | A |
-
c.832G>A
|
-
p.Glu278Lys
|
- | 3.0 |
|
B | |
| 4681 | chr6 | 112072079 | G | C |
c.1095-3C>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 28549 | chr6 | 113943377 | T | G |
c.1352A>C
|
p.Lys451Thr
|
- | 3.0 |
|
B | |
| 25184 | chr6 | 113943464 | G | A |
c.1265C>T
|
p.Ser422Leu
|
- | 3.0 |
|
B | |
| 13986 | chr6 | 113944388 | G | A |
c.1114C>T
|
p.Arg372Cys
|
- | 3.0 |
|
B | |
| 14521 | chr6 | 113945989 | T | A |
c.982+19A>T
|
-
|
- | 3.0 |
|
B | |
| 28345 | chr6 | 113946079 | T | C |
c.911A>G
|
p.Tyr304Cys
|
- | 3.0 |
|
B | |
| 8810 | chr6 | 113946134 | C | G |
c.856G>C
|
p.Val286Leu
|
- | 3.0 |
|
B | |
| 5968 | chr6 | 113949205 | C | G |
c.695G>C
|
p.Gly232Ala
|
- | 3.0 |
|
B |