Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10051 | chr14 | 20352301 | C | T |
c.554C>T
|
p.Pro185Leu
|
- | 3.0 |
|
B | |
| 2168 | chr14 | 20354223 | T | G |
c.739T>G
|
p.Tyr247Asp
|
- | 3.0 |
|
B | |
| 28275 | chr14 | 20356002 | C | T |
c.1072C>T
|
p.Pro358Ser
|
3.0 |
|
B | ||
| 9046 | chr14 | 20356023 | G | A |
c.1093G>A
|
p.Glu365Lys
|
3.0 |
|
B | ||
| 31414 | chr14 | 20357661 | G | A |
c.1577G>A
|
p.Gly526Glu
|
3.0 |
|
B | ||
| 32386 | chr14 | 20357763 | TA | T |
c.1682del
|
p.Lys561ArgfsTer13
|
- | 3.0 |
|
B | |
| 32387 | chr14 | 20357769 | T | G |
c.1685T>G
|
p.Val562Gly
|
- | 3.0 |
|
B | |
| 3692 | chr14 | 20378765 | C | T |
c.5341G>A
|
p.Gly1781Arg
|
- | 3.0 |
|
B | |
| 3889 | chr14 | 21385735 | C | G |
c.7624G>C
-
|
p.Glu2542Gln
-
|
- | 3.0 |
|
B | |
| 19736 | chr14 | 21391016 | A | AT |
c.7112dup
|
p.Asn2371LysfsTer2
|
3.0 |
|
B | ||
| 16158 | chr14 | 21391608 | A | C |
c.6920T>G
|
p.Leu2307Arg
|
- | 3.0 |
|
B | |
| 22628 | chr14 | 21391830 | C | T |
c.6885+3G>A
|
-
|
- | 3.0 |
|
B | |
| 26197 | chr14 | 21392622 | C | A |
c.6656G>T
|
p.Ser2219Ile
|
3.0 |
|
B | ||
| 33972 | chr14 | 21393198 | A | C |
c.6376T>G
|
p.Ser2126Ala
|
- | 3.0 |
|
B | |
| 3795 | chr14 | 21393477 | T | TA |
c.6317dup
|
p.Thr2107AsnfsTer2
|
- | 3.0 |
|
B | |
| 9978 | chr14 | 21393643 | G | T |
c.6152C>A
|
p.Thr2051Asn
|
3.0 |
|
B | ||
| 12752 | chr14 | 21393847 | G | A |
c.5948C>T
|
p.Pro1983Leu
|
- | 3.0 |
|
B | |
| 35583 | chr14 | 21393914 | G | A |
c.5881C>T
|
p.Arg1961Cys
|
- | 3.0 |
|
B | |
| 1694 | chr14 | 21394088 | G | T |
c.5707C>A
|
p.His1903Asn
|
- | 3.0 |
|
B | |
| 19331 | chr14 | 21394358 | C | T |
c.5518G>A
|
p.Asp1840Asn
|
3.0 |
|
B |