Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16433 | chr14 | 45175413 | G | A |
c.2659G>A
|
p.Glu887Lys
|
- | 3.0 |
|
B | |
| 29124 | chr14 | 45175413 | G | GAAAGA |
c.2662_2663insGAAAA
|
p.Asn888ArgfsTer39
|
- | 3.5 |
|
B | |
| 29125 | chr14 | 45175418 | T | TTCC |
c.2664_2665insTCC
|
p.Asn888_Ile889insSer
|
- | 3.0 |
|
B | |
| 1036 | chr14 | 45175477 | C | T |
c.2723C>T
|
p.Ala908Val
|
3.0 |
|
B | ||
| 5084 | chr14 | 45175671 | G | T |
c.2917G>T
|
p.Asp973Tyr
|
- | 3.0 |
|
B | |
| 5574 | chr14 | 45175891 | A | C |
c.3137A>C
|
p.Gln1046Pro
|
3.0 |
|
B | ||
| 12753 | chr14 | 45176014 | A | T |
c.3260A>T
|
p.Lys1087Ile
|
- | 3.0 |
|
B | |
| 2190 | chr14 | 45176508 | A | C |
c.3754A>C
|
p.Ser1252Arg
|
- | 3.0 |
|
B | |
| 5709 | chr14 | 45176556 | G | T |
c.3802G>T
|
p.Glu1268Ter
|
- | 3.5 |
|
B | |
| 23818 | chr14 | 45176644 | C | T |
c.3890C>T
|
p.Pro1297Leu
|
- | 3.0 |
|
B | |
| 27502 | chr14 | 45176673 | T | C |
c.3919T>C
|
p.Tyr1307His
|
3.0 |
|
B | ||
| 19021 | chr14 | 45176685 | C | T |
c.3931C>T
|
p.Pro1311Ser
|
3.0 |
|
B | ||
| 11366 | chr14 | 45176751 | CA | C |
c.4005del
|
p.Val1336LeufsTer2
|
3.5 |
|
B | ||
| 15099 | chr14 | 45176789 | C | A |
c.4035C>A
|
p.Asn1345Lys
|
- | 3.0 |
|
B | |
| 22929 | chr14 | 45181695 | C | T |
c.4376C>T
|
p.Pro1459Leu
|
3.0 |
|
B | ||
| 19333 | chr14 | 45181698 | T | C |
c.4379T>C
|
p.Ile1460Thr
|
- | 3.0 |
|
B | |
| 17945 | chr14 | 45185243 | T | G |
c.4542T>G
|
p.Asp1514Glu
|
- | 3.0 |
|
B | |
| 16434 | chr14 | 45185364 | G | C |
c.4663G>C
|
p.Ala1555Pro
|
- | 3.0 |
|
B | |
| 11957 | chr14 | 45187784 | C | T |
c.4676C>T
|
p.Ser1559Phe
|
- | 3.0 |
|
B | |
| 2368 | chr14 | 45188896 | T | C |
c.4874T>C
|
p.Val1625Ala
|
- | 3.0 |
|
B |