Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5457 | chr16 | 3728100 | G | C |
c.6947C>G
|
p.Pro2316Arg
|
3.0 |
|
B | ||
| 1839 | chr16 | 3728423 | TTGTTGCTGCTGC | T |
c.6612_6623del
|
p.Gln2213_Gln2216del
|
2.0 |
|
B | ||
| 1169 | chr16 | 3728833 | G | A |
c.6214C>T
|
p.Arg2072Trp
|
3.0 |
|
B | ||
| 25030 | chr16 | 3728893 | G | A |
c.6154C>T
|
p.Arg2052Trp
|
3.0 |
|
B | ||
| 10244 | chr16 | 3728956 | G | A |
c.6091C>T
|
p.Pro2031Ser
|
3.0 |
|
B | ||
| 26726 | chr16 | 3728980 | G | A |
c.6067C>T
|
p.Gln2023Ter
|
- | 4.0 |
|
B | |
| 16818 | chr16 | 3729006 | G | A |
c.6041C>T
|
p.Pro2014Leu
|
- | 3.0 |
|
B | |
| 33757 | chr16 | 3729018 | C | T |
c.6029G>A
|
p.Gly2010Glu
|
3.0 |
|
B | ||
| 1170 | chr16 | 3729204 | G | A |
c.5843C>T
|
p.Pro1948Leu
|
2.5 |
|
B | ||
| 1619 | chr16 | 3729209 | TG | T |
c.5837del
|
p.Pro1946HisfsTer30
|
4.0 |
|
B | ||
| 5770 | chr16 | 3729210 | G | A |
c.5837C>T
|
p.Pro1946Leu
|
3.0 |
|
B | ||
| 5638 | chr16 | 3729211 | G | A |
c.5836C>T
|
p.Pro1946Ser
|
3.0 |
|
B | ||
| 5112 | chr16 | 3729372 | G | A |
c.5675C>T
|
p.Thr1892Ile
|
3.0 |
|
B | ||
| 6515 | chr16 | 3729597 | G | C |
c.5450C>G
|
p.Pro1817Arg
|
- | 3.0 |
|
B | |
| 27686 | chr16 | 3729733 | T | G |
c.5314A>C
|
p.Ile1772Leu
|
- | 3.0 |
|
B | |
| 2835 | chr16 | 3729742 | G | A |
c.5305C>T
|
p.Arg1769Trp
|
- | 3.0 |
|
B | |
| 4604 | chr16 | 3731322 | AAGG | A |
c.5039_5041del
|
p.Ser1680del
|
3.5 |
|
B | ||
| 2333 | chr16 | 3731373 | C | T |
c.4991G>A
|
p.Arg1664His
|
3.5 |
|
B | ||
| 2864 | chr16 | 3731775 | C | A |
c.4890+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 6174 | chr16 | 3736037 | T | C |
c.4727A>G
|
p.Glu1576Gly
|
- | 3.5 |
|
B |