Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6678 | chr1 | 15929806 | C | G |
c.3566C>G
|
p.Ser1189Cys
|
- | 3.0 |
|
B | |
| 1676 | chr1 | 15929838 | G | T |
c.3598G>T
|
p.Asp1200Tyr
|
- | 3.0 |
|
B | |
| 24267 | chr1 | 15930107 | A | C |
c.3867A>C
|
p.Lys1289Asn
|
- | 3.0 |
|
B | |
| 4568 | chr1 | 15930487 | G | A |
c.4247G>A
|
p.Arg1416His
|
3.0 |
|
B | ||
| 6902 | chr1 | 15930628 | C | G |
c.4388C>G
|
p.Ser1463Cys
|
- | 3.0 |
|
B | |
| 14274 | chr1 | 15930663 | C | T |
c.4423C>T
|
p.Arg1475Ter
|
- | 3.5 |
|
B | |
| 17446 | chr1 | 15930664 | G | A |
c.4424G>A
|
p.Arg1475Gln
|
3.0 |
|
B | ||
| 26560 | chr1 | 15930825 | C | T |
c.4585C>T
|
p.Arg1529Cys
|
- | 3.0 |
|
B | |
| 14889 | chr1 | 15931025 | G | T |
c.4785G>T
|
p.Gln1595His
|
- | 3.5 |
|
B | |
| 30299 | chr1 | 15931208 | G | T |
c.4968G>T
|
p.Lys1656Asn
|
- | 3.0 |
|
B | |
| 21739 | chr1 | 15931283 | A | T |
c.5043A>T
|
p.Glu1681Asp
|
- | 3.5 |
|
B | |
| 14566 | chr1 | 15931443 | C | T |
c.5203C>T
|
p.Pro1735Ser
|
- | 3.0 |
|
B | |
| 23263 | chr1 | 15931531 | A | C |
c.5291A>C
|
p.Gln1764Pro
|
- | 3.0 |
|
B | |
| 33096 | chr1 | 15931537 | C | G |
c.5297C>G
|
p.Ser1766Cys
|
- | 3.0 |
|
B | |
| 29537 | chr1 | 15931931 | C | G |
c.5691C>G
|
p.Ser1897Arg
|
- | 3.0 |
|
B | |
| 10763 | chr1 | 15932226 | C | T |
c.5986C>T
|
p.Gln1996Ter
|
- | 4.0 |
|
B | |
| 19498 | chr1 | 15932547 | AG | A |
c.6313del
|
p.Ala2105LeufsTer33
|
- | 4.0 |
|
B | |
| 9941 | chr1 | 15932631 | G | T |
c.6391G>T
|
p.Asp2131Tyr
|
- | 3.0 |
|
B | |
| 32849 | chr1 | 15932797 | C | T |
c.6557C>T
|
p.Ala2186Val
|
3.0 |
|
B | ||
| 29787 | chr1 | 15933159 | G | A |
c.6919G>A
|
p.Glu2307Lys
|
- | 3.0 |
|
B |