Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1858 | chr16 | 72796362 | A | G |
c.6320T>C
|
p.Leu2107Pro
|
3.0 |
|
B | ||
| 31297 | chr16 | 72796647 | A | G |
c.6035T>C
|
p.Phe2012Ser
|
- | 3.0 |
|
B | |
| 1616 | chr16 | 72796907 | AC | A |
c.5774del
|
p.Gly1925ValfsTer72
|
- | 4.0 |
|
B | |
| 4968 | chr16 | 72797059 | C | T |
c.5623G>A
|
p.Glu1875Lys
|
3.0 |
|
B | ||
| 4911 | chr16 | 72797236 | G | A |
c.5446C>T
|
p.Pro1816Ser
|
- | 3.0 |
|
B | |
| 26680 | chr16 | 72797458 | C | CTTG |
c.5221_5223dup
|
p.Gln1741dup
|
2.0 |
|
B | ||
| 20152 | chr16 | 72797458 | C | CTTGTTG |
c.5218_5223dup
|
p.Gln1740_Gln1741dup
|
2.0 |
|
B | ||
| 9962 | chr16 | 72797458 | CTTG | C |
c.5221_5223del
|
p.Gln1741del
|
2.5 |
|
B | ||
| 5981 | chr16 | 72797464 | G | T |
c.5218C>A
|
p.Gln1740Lys
|
3.0 |
|
B | ||
| 10772 | chr16 | 72797770 | C | G |
c.4912G>C
|
p.Gly1638Arg
|
- | 3.0 |
|
B | |
| 18520 | chr16 | 72797894 | A | T |
c.4788T>A
|
p.Phe1596Leu
|
- | 3.0 |
|
B | |
| 29904 | chr16 | 72797932 | G | A |
c.4750C>T
|
p.Gln1584Ter
|
- | 3.5 |
|
B | |
| 12666 | chr16 | 72798016 | G | A |
c.4666C>T
|
p.Gln1556Ter
|
- | 3.5 |
|
B | |
| 23086 | chr16 | 72798055 | G | A |
c.4627C>T
|
p.Arg1543Cys
|
- | 3.0 |
|
B | |
| 2815 | chr16 | 72798169 | G | A |
c.4513C>T
|
p.Pro1505Ser
|
- | 3.0 |
|
B | |
| 15367 | chr16 | 72798265 | G | A |
c.4417C>T
|
p.Leu1473Phe
|
3.0 |
|
B | ||
| 6234 | chr16 | 72798514 | G | A |
c.4168C>T
|
p.Gln1390Ter
|
- | 4.5 |
|
B | |
| 1849 | chr16 | 72798577 | G | A |
c.4105C>T
|
p.Gln1369Ter
|
- | 4.0 |
|
B | |
| 8814 | chr16 | 72798632 | G | T |
c.4050C>A
|
p.Asp1350Glu
|
- | 3.0 |
|
B | |
| 33635 | chr16 | 72798657 | C | T |
c.4025G>A
|
p.Gly1342Glu
|
- | 3.0 |
|
B |