Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
1441 chr1 114713905 T TCC
-
c.184_185insGG
-
p.Glu62GlyfsTer7
- 3.0
B
98 chr1 114713907 T A
-
c.183A>T
-
p.Gln61His
5.0
B
99 chr1 114713907 T G
-
c.183A>C
-
p.Gln61His
4.67
A
101 chr1 114713908 T A
-
c.182A>T
-
p.Gln61Leu
4.78
S
100 chr1 114713908 T C
-
c.182A>G
-
p.Gln61Arg
4.67
A
102 chr1 114713909 G T
-
c.181C>A
-
p.Gln61Lys
4.67
A
8542 chr1 114713927 T A
-
c.163A>T
-
p.Ile55Leu
- 3.0
B
7869 chr1 114713945 C T
-
c.145G>A
-
p.Glu49Lys
3.0
B
3103 chr1 114716090 A T
-
c.71T>A
-
p.Ile24Asn
4.0
B
589 chr1 114716111 C G
-
c.50G>C
-
p.Ser17Thr
- 3.0
B
103 chr1 114716123 C A
-
c.38G>T
-
p.Gly13Val
5.0
B
104 chr1 114716123 C T
-
c.38G>A
-
p.Gly13Asp
4.67
A
106 chr1 114716124 C A
-
c.37G>T
-
p.Gly13Cys
5.0
B
105 chr1 114716124 C G
-
c.37G>C
-
p.Gly13Arg
5.0
B
108 chr1 114716126 C A
-
c.35G>T
-
p.Gly12Val
4.67
A
3104 chr1 114716126 C G
-
c.35G>C
-
p.Gly12Ala
4.0
B
107 chr1 114716126 C T
-
c.35G>A
-
p.Gly12Asp
4.67
A
22182 chr1 114716127 C A
-
c.34G>T
-
p.Gly12Cys
4.0
B
109 chr1 114716127 C G
-
c.34G>C
-
p.Gly12Arg
4.67
A
110 chr1 114716127 C T
-
c.34G>A
-
p.Gly12Ser
5.0
B