Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
12173 chr7 55163716 C T
c.1632-17C>T
-
- 3.0
B
9620 chr7 55163767 A G
c.1666A>G
p.Ile556Val
3.0
B
20662 chr7 55165261 T G
c.1723-19T>G
-
- 3.0
B
7421 chr7 55165319 G C
c.1762G>C
p.Gly588Arg
- 3.0
B
21227 chr7 55165322 C T
c.1765C>T
p.Pro589Ser
3.0
B
35548 chr7 55165336 G T
c.1779G>T
p.Lys593Asn
- 3.0
B
625 chr7 55165344 C T
c.1787C>T
p.Pro596Leu
3.5
B
313 chr7 55165350 G C
c.1793G>C
p.Gly598Ala
3.67
A
312 chr7 55165350 G T
c.1793G>T
p.Gly598Val
4.33
A
35550 chr7 55165361 G C
c.1804G>C
p.Glu602Gln
- 3.0
B
5793 chr7 55165381 G C
c.1824G>C
p.Trp608Cys
- 3.0
B
10665 chr7 55165439 T G
c.1880+2T>G
p.?
- 3.0
B
30007 chr7 55168525 C T
c.1881-2650C>T
-
- 3.0
B
10612 chr7 55170368 C T
c.1881-807C>T
-
- 3.0
B
22741 chr7 55170395 C G
c.1881-780C>G
-
3.0
B
12562 chr7 55170466 G C
c.1881-709G>C
-
3.0
B
14927 chr7 55170502 G A
c.1881-673G>A
-
- 3.0
B
4007 chr7 55171177 G T
c.1883G>T
p.Cys628Phe
- 3.0
B
22477 chr7 55171202 T G
c.1908T>G
p.Cys636Trp
- 3.0
B
3020 chr7 55171211 TG T
c.1919+1del
p.?
- 3.0
B