Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24811 | chr8 | 100715486 | G | A |
c.619C>T
|
p.Leu207Phe
|
3.0 |
|
B | ||
| 24812 | chr8 | 100715488 | C | T |
c.617G>A
|
p.Arg206His
|
3.0 |
|
B | ||
| 5449 | chr8 | 100715520 | G | C |
c.585C>G
|
p.Ile195Met
|
- | 3.0 |
|
B | |
| 1660 | chr8 | 100715522 | T | C |
c.583A>G
|
p.Ile195Val
|
3.0 |
|
B | ||
| 34840 | chr8 | 100715538 | T | C |
c.567A>G
|
p.Glu189=
|
2.0 |
|
B | ||
| 4405 | chr8 | 100717772 | C | T |
c.503+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 31432 | chr8 | 100718279 | C | T |
c.195G>A
|
p.Ala65=
|
3.0 |
|
B | ||
| 24649 | chr8 | 100721549 | G | A |
c.35C>T
|
p.Ser12Leu
|
- | 3.0 |
|
B | |
| 28786 | chr8 | 100721599 | C | T |
c.-16G>A
|
-
|
- | 3.0 |
|
B | |
| 10239 | chr8 | 102257659 | C | G |
c.8160G>C
|
p.Lys2720Asn
|
- | 3.0 |
|
B | |
| 9794 | chr8 | 102257692 | CTGCAGAAGCT | C |
c.8117_8126del
|
p.Lys2706SerfsTer9
|
- | 3.0 |
|
B | |
| 14335 | chr8 | 102259061 | A | AAAATCTTCTGCCGTT |
c.8010_8024dup
|
p.Leu2670_Asp2674dup
|
- | 3.0 |
|
B | |
| 15461 | chr8 | 102261132 | C | G |
c.7956+14G>C
|
-
|
- | 3.0 |
|
B | |
| 19539 | chr8 | 102262043 | CA | C |
c.7713del
|
p.Phe2571LeufsTer4
|
3.0 |
|
B | ||
| 31819 | chr8 | 102266994 | C | T |
c.7375G>A
|
p.Asp2459Asn
|
- | 3.0 |
|
B | |
| 33459 | chr8 | 102269128 | G | A |
c.7231-20C>T
|
-
|
- | 3.0 |
|
B | |
| 29066 | chr8 | 102272766 | G | A |
c.6736C>T
|
p.Arg2246Trp
|
3.0 |
|
B | ||
| 10160 | chr8 | 102275538 | T | C |
c.6712A>G
|
p.Arg2238Gly
|
3.0 |
|
B | ||
| 10310 | chr8 | 102275617 | G | A |
c.6633C>T
|
p.Ile2211=
|
- | 3.0 |
|
B | |
| 20048 | chr8 | 102275622 | TA | T |
c.6631-4del
|
-
|
2.5 |
|
B |