Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
4788 chr22 30555564 C T
c.661G>A
p.Asp221Asn
- 3.0
B
27907 chr22 31327314 G A
c.1646-5C>T
-
3.0
B
20921 chr22 31342971 G A
c.1272-11C>T
-
3.0
B
18948 chr22 31344528 TCTCA T
c.1071_1074del
p.Cys357Ter
- 4.0
B
14645 chr22 31344630 C T
c.973G>A
p.Asp325Asn
- 3.0
B
28128 chr22 31344882 G A
c.721C>T
p.Pro241Ser
- 3.0
B
13311 chr22 31345218 G A
c.385C>T
p.Arg129Cys
- 3.0
B
17123 chr22 32518044 T G
c.1609A>C
p.Asn537His
3.0
B
3761 chr22 32802006 C T
c.711+62909G>A
c.5C>T
-
p.Thr2Ile
3.0
B
5239 chr22 33006436 C T
c.227G>A
p.Gly76Glu
- 3.0
B
22214 chr22 35067085 T G
c.-3T>G
-
ISX
- 3.0
B
34537 chr22 35067109 G A
c.22G>A
p.Ala8Thr
ISX
3.0
B
16387 chr22 35067116 G C
c.29G>C
p.Cys10Ser
ISX
- 3.0
B
21249 chr22 35067220 G A
c.133G>A
p.Asp45Asn
ISX
- 3.0
B
21202 chr22 35082498 T G
c.230-20T>G
-
ISX
- 3.0
B
27200 chr22 35082544 C T
c.256C>T
p.Arg86Cys
ISX
3.0
B
34433 chr22 35082685 C T
c.381+16C>T
-
ISX
- 3.0
B
14365 chr22 35084372 C T
c.382-11C>T
-
ISX
3.0
B
20436 chr22 35084376 A G
c.382-7A>G
-
ISX
- 3.0
B
33222 chr22 35085556 A G
c.601A>G
p.Ile201Val
ISX
- 3.0
B