Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7038 | chr6 | 37171241 | CCTGGAGA | C |
c.358_364del
|
p.Leu120GlyfsTer152
|
- | 3.0 |
|
B | |
| 7039 | chr6 | 37171263 | C | T |
c.379C>T
|
p.Gln127Ter
|
3.0 |
|
B | ||
| 6494 | chr6 | 37171269 | C | G |
c.385C>G
|
p.Leu129Val
|
- | 3.0 |
|
B | |
| 7040 | chr6 | 37171287 | G | A |
c.403G>A
|
p.Glu135Lys
|
3.0 |
|
B | ||
| 7041 | chr6 | 37171364 | C | G |
c.480C>G
|
p.Asn160Lys
|
- | 3.0 |
|
B | |
| 7042 | chr6 | 37171388 | C | G |
c.504C>G
|
p.Ile168Met
|
- | 3.0 |
|
B | |
| 16732 | chr6 | 37171467 | G | A |
c.583G>A
|
p.Asp195Asn
|
- | 3.0 |
|
B | |
| 14732 | chr6 | 37173016 | C | T |
c.628C>T
|
p.Pro210Ser
|
- | 3.0 |
|
B | |
| 1855 | chr6 | 37173062 | T | C |
c.674T>C
|
p.Val225Ala
|
- | 3.0 |
|
B | |
| 1243 | chr6 | 37173952 | G | C |
c.803G>C
|
p.Arg268Thr
|
- | 3.0 |
|
B | |
| 13274 | chr6 | 37174013 | A | G |
c.864A>G
|
p.Pro288=
|
3.0 |
|
B | ||
| 18002 | chr6 | 37390835 | G | A |
c.*77G>A
|
-
|
3.0 |
|
B | ||
| 2694 | chr6 | 38677384 | C | A |
c.467-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 2695 | chr6 | 38677385 | T | G |
c.467-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 13585 | chr6 | 38886799 | T | G |
c.8268T>G
|
p.Asn2756Lys
|
- | 3.0 |
|
B | |
| 3641 | chr6 | 39191038 | T | A |
c.1352A>T
|
p.Gln451Leu
|
- | 3.0 |
|
B | |
| 4671 | chr6 | 39191041 | T | A |
c.1349A>T
|
p.Gln450Leu
|
- | 3.0 |
|
B | |
| 15262 | chr6 | 40392033 | G | GT |
c.2279dup
|
p.Asn760LysfsTer8
|
- | 3.0 |
|
B | |
| 3575 | chr6 | 41090213 | C | T |
c.451C>T
|
p.Gln151Ter
|
- | 3.0 |
|
B | |
| 7008 | chr6 | 41344139 | C | T |
c.644+1990C>T
|
-
|
- | 3.0 |
|
B |