Papers
RefSeq ID
Protein change
DNA change
1–12 of 136 variants
NM_016516.3
p.L967Q
c.2900T>A
NM_016516.3
p.Y120*
c.360T>A
NM_016516.3
p.T147I
c.440C>T
NM_016516.3
p.M353V
c.1057A>G
NM_016516.3
p.T360A
c.1078A>G
NM_016516.3
p.M912I
c.2736G>T
NM_016516.3
p.M912I
c.2736G>C
NM_016516.3
p.M912I
c.2736G>A
NM_016516.3
p.H116_F117delFs
c.346_349del4
NM_016516.3
p.L149delFs
c.445_446delAA
NM_016516.3
p.Y212Y
c.636T>C
NM_016516.3
p.L346_L349del4
c.1036_1046del12