Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35103 | chr16 | 3738617 | G | A |
c.4336C>T
|
p.Arg1446Cys
|
3.5 |
|
B | ||
| 16261 | chr16 | 3738645 | A | C |
c.4308T>G
|
p.Ser1436Arg
|
3.5 |
|
B | ||
| 31377 | chr16 | 3738650 | C | A |
c.4303G>T
|
p.Asp1435Tyr
|
3.5 |
|
B | ||
| 8622 | chr16 | 3739609 | A | T |
c.4249T>A
|
p.Tyr1417Asn
|
- | 3.0 |
|
B | |
| 4885 | chr16 | 3739627 | C | CA |
c.4230dup
|
p.Gly1411TrpfsTer10
|
4.5 |
|
B | ||
| 1840 | chr16 | 3739725 | C | T |
c.4134-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 29901 | chr16 | 3744921 | G | A |
c.3955C>T
|
p.Arg1319Ter
|
5.0 |
|
B | ||
| 14499 | chr16 | 3749651 | T | A |
c.3812A>T
|
p.Lys1271Ile
|
- | 4.0 |
|
B | |
| 1047 | chr16 | 3749685 | T | G |
c.3780-2A>C
|
p.?
|
- | 4.0 |
|
B | |
| 34919 | chr16 | 3751725 | C | A |
c.3779+1G>T
|
p.?
|
4.5 |
|
B | ||
| 34087 | chr16 | 3751778 | CTG | C |
c.3725_3726del
|
p.Thr1242ArgfsTer11
|
- | 4.0 |
|
B | |
| 9103 | chr16 | 3751811 | C | A |
c.3699-5G>T
|
-
|
- | 3.0 |
|
B | |
| 7502 | chr16 | 3757912 | C | T |
c.3506G>A
|
p.Arg1169His
|
- | 3.0 |
|
B | |
| 5489 | chr16 | 3757918 | T | C |
c.3500A>G
|
p.Tyr1167Cys
|
3.0 |
|
B | ||
| 19218 | chr16 | 3758051 | TA | T |
c.3370-4del
|
-
|
1.0 |
|
B | ||
| 20138 | chr16 | 3758051 | TAA | T |
c.3370-5_3370-4del
|
-
|
2.0 |
|
B | ||
| 19894 | chr16 | 3758051 | TAAA | T |
c.3370-6_3370-4del
|
-
|
3.0 |
|
B | ||
| 20404 | chr16 | 3767719 | CT | C |
c.3250del
|
p.Ile1084SerfsTer15
|
4.0 |
|
B | ||
| 1085 | chr16 | 3767780 | C | T |
c.3190G>A
|
p.Glu1064Lys
|
3.0 |
|
B | ||
| 26558 | chr16 | 3769239 | T | C |
c.2995A>G
|
p.Thr999Ala
|
2.5 |
|
B |