Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32925 | chr6 | 162201263 | A | G |
c.413-11T>C
|
-
|
2.5 |
|
B | ||
| 6415 | chr6 | 162262518 | C | G |
c.412+7G>C
|
-
|
- | 3.5 |
|
B | |
| 10071 | chr6 | 162262527 | G | A |
c.410C>T
|
p.Pro137Leu
|
- | 3.0 |
|
B | |
| 15141 | chr6 | 162262540 | G | C |
c.397C>G
|
p.Pro133Ala
|
- | 3.0 |
|
B | |
| 5634 | chr6 | 162262622 | C | T |
c.315G>A
|
p.Val105=
|
- | 3.0 |
|
B | |
| 24447 | chr6 | 162262626 | C | A |
c.311G>T
|
p.Arg104Leu
|
3.0 |
|
B | ||
| 10224 | chr6 | 162262651 | C | T |
c.286G>A
|
p.Glu96Lys
|
3.0 |
|
B | ||
| 13337 | chr6 | 162262678 | C | T |
c.259G>A
|
p.Asp87Asn
|
3.0 |
|
B | ||
| 16293 | chr6 | 162262684 | C | T |
c.253G>A
|
p.Gly85Ser
|
- | 3.0 |
|
B | |
| 9428 | chr6 | 162262729 | C | T |
c.208G>A
|
p.Val70Met
|
3.0 |
|
B | ||
| 12169 | chr6 | 162443303 | G | A |
c.171+7C>T
|
-
|
- | 3.0 |
|
B | |
| 4308 | chr6 | 162443399 | C | T |
c.82G>A
|
p.Glu28Lys
|
- | 3.0 |
|
B | |
| 10584 | chr6 | 162443420 | T | C |
c.61A>G
|
p.Thr21Ala
|
- | 3.0 |
|
B | |
| 32623 | chr6 | 162443428 | T | G |
c.53A>C
|
p.Asp18Ala
|
3.0 |
|
B | ||
| 3159 | chr6 | 162443445 | A | T |
c.36T>A
|
p.Gly12=
|
- | 3.0 |
|
B | |
| 16898 | chr6 | 163415209 | G | T |
c.16G>T
|
p.Glu6Ter
|
- | 3.5 |
|
B | |
| 8865 | chr6 | 163455393 | T | G |
c.257T>G
|
p.Leu86Arg
|
- | 3.0 |
|
B | |
| 1882 | chr6 | 163455422 | G | C |
c.285+1G>C
|
p.?
|
- | 3.5 |
|
B | |
| 4115 | chr6 | 163478887 | TA | T |
c.401del
|
p.Lys134ArgfsTer14
|
3.0 |
|
B | ||
| 20980 | chr6 | 163478914 | G | T |
c.402+18G>T
|
-
|
- | 3.0 |
|
B |