Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15766 | chr6 | 43582457 | G | T |
c.137+1G>T
|
p.?
|
- | 3.5 |
|
B | |
| 29628 | chr6 | 43583123 | G | A |
c.254G>A
|
p.Gly85Glu
|
- | 3.0 |
|
B | |
| 6017 | chr6 | 43583137 | A | C |
c.268A>C
|
p.Thr90Pro
|
- | 3.0 |
|
B | |
| 22869 | chr6 | 43587417 | G | A |
c.418G>A
|
p.Asp140Asn
|
- | 3.0 |
|
B | |
| 34394 | chr6 | 43603877 | C | T |
c.765-15C>T
|
-
|
- | 3.0 |
|
B | |
| 34396 | chr6 | 43603879 | C | T |
c.765-13C>T
|
-
|
- | 3.0 |
|
B | |
| 29054 | chr6 | 43603933 | T | A |
c.806T>A
|
p.Ile269Asn
|
- | 3.0 |
|
B | |
| 5671 | chr6 | 43603988 | G | C |
c.861G>C
|
p.Gln287His
|
- | 3.0 |
|
B | |
| 14406 | chr6 | 43604710 | G | GA |
c.985dup
|
p.Thr329AsnfsTer26
|
- | 3.5 |
|
B | |
| 4413 | chr6 | 43604731 | G | A |
c.1001G>A
|
p.Arg334Gln
|
3.0 |
|
B | ||
| 19000 | chr6 | 43610590 | C | T |
c.1111C>T
|
p.Arg371Cys
|
3.0 |
|
B | ||
| 34590 | chr6 | 43614444 | G | A |
c.2029G>A
|
p.Val677Ile
|
3.0 |
|
B | ||
| 4445 | chr6 | 43622697 | A | C |
-
c.1403T>G
|
-
p.Val468Gly
|
- | 3.0 |
|
B | |
| 24995 | chr6 | 43624634 | C | A |
-
c.976G>T
|
-
p.Val326Leu
|
- | 3.0 |
|
B | |
| 26112 | chr6 | 43770790 | G | C |
c.84G>C
|
p.Ala28=
|
- | 3.0 |
|
B | |
| 27974 | chr6 | 43770826 | CGG | C |
c.123_124del
|
p.Val42GlyfsTer42
|
- | 3.0 |
|
B | |
| 11617 | chr6 | 43771001 | G | T |
c.295G>T
|
p.Glu99Ter
|
- | 3.0 |
|
B | |
| 6495 | chr6 | 43771071 | A | G |
c.365A>G
|
p.Glu122Gly
|
- | 3.0 |
|
B | |
| 15595 | chr6 | 43771140 | G | A |
c.434G>A
|
p.Arg145Gln
|
- | 3.0 |
|
B | |
| 28696 | chr6 | 43771322 | C | T |
c.606+10C>T
|
-
|
3.0 |
|
B |