Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22663 | chr14 | 32093792 | A | G |
c.3123A>G
|
p.Lys1041=
|
3.0 |
|
B | ||
| 13813 | chr14 | 32093870 | T | TA |
c.3206dup
|
p.Asn1069LysfsTer15
|
- | 3.0 |
|
B | |
| 30292 | chr14 | 32093985 | GA | G |
c.3317del
|
p.Asp1106ValfsTer21
|
- | 3.0 |
|
B | |
| 24702 | chr14 | 32094336 | G | C |
c.3667G>C
|
p.Asp1223His
|
- | 3.0 |
|
B | |
| 22928 | chr14 | 32146310 | C | T |
c.3913C>T
|
p.Gln1305Ter
|
- | 3.0 |
|
B | |
| 27620 | chr14 | 32150026 | A | T |
c.4068A>T
|
p.Glu1356Asp
|
- | 3.0 |
|
B | |
| 15866 | chr14 | 32152525 | A | C |
c.4178A>C
|
p.Asn1393Thr
|
- | 3.0 |
|
B | |
| 27178 | chr14 | 32154605 | C | T |
c.4182-16C>T
|
-
|
3.0 |
|
B | ||
| 26774 | chr14 | 34753569 | AC | A |
c.4609del
|
p.Val1537SerfsTer46
|
- | 3.5 |
|
B | |
| 25738 | chr14 | 34753622 | TC | T |
c.4556del
|
p.Gly1519GlufsTer64
|
- | 4.0 |
|
B | |
| 21234 | chr14 | 34762161 | G | A |
c.3839C>T
|
p.Ser1280Phe
|
- | 3.0 |
|
B | |
| 27030 | chr14 | 34764718 | C | A |
c.3765G>T
|
p.Glu1255Asp
|
- | 3.0 |
|
B | |
| 33909 | chr14 | 34764884 | C | T |
c.3599G>A
|
p.Arg1200His
|
3.0 |
|
B | ||
| 27713 | chr14 | 34765251 | G | A |
c.3319C>T
|
p.Arg1107Cys
|
3.0 |
|
B | ||
| 18807 | chr14 | 34771580 | G | A |
c.3232C>T
|
p.His1078Tyr
|
- | 3.0 |
|
B | |
| 27266 | chr14 | 34771595 | C | T |
c.3217G>A
|
p.Val1073Met
|
- | 3.0 |
|
B | |
| 23293 | chr14 | 34776227 | G | A |
c.2525C>T
|
p.Ser842Leu
|
- | 3.0 |
|
B | |
| 17921 | chr14 | 34776522 | TTAAAA | T |
c.2237-12_2237-8del
|
-
|
3.0 |
|
B | ||
| 20122 | chr14 | 34783768 | G | A |
c.1991C>T
|
p.Ala664Val
|
- | 3.0 |
|
B | |
| 33405 | chr14 | 34785975 | C | G |
c.1633G>C
|
p.Asp545His
|
- | 3.0 |
|
B |