Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.92607572C>ACA2646588446EVI5c.1959+9G>T (n.1959+9G>T)
c.1950+9G>T (n.1950+9G>T)
c.*1807+9G>T (n.*1807+9G>T)
c.1974+9G>T (n.1974+9G>T)
c.2055+9G>T (n.2055+9G>T)
n.310-3773G>T
c.762+9G>T (n.762+9G>T)
c.1839+9G>T (n.1839+9G>T)
c.1926+9G>T (n.1926+9G>T)
n.779+9G>T
n.456G>T
c.2178+9G>T (n.2178+9G>T)
c.2031+9G>T (n.2031+9G>T)
c.2032-2170G>T (n.2032-2170G>T)
c.2019+9G>T (n.2019+9G>T)
c.1998+9G>T (n.1998+9G>T)
c.2187+9G>T (n.2187+9G>T)
c.2106+9G>T (n.2106+9G>T)
c.2040+9G>T (n.2040+9G>T)
c.1920+9G>T (n.1920+9G>T)
c.1827+9G>T (n.1827+9G>T)
c.1563+9G>T (n.1563+9G>T)
c.2007+9G>T (n.2007+9G>T)
c.1932+9G>T (n.1932+9G>T)
 gnomAD v4
1g.92607573A=CA1180836709EVI5c.1959+8T= (n.1959+8T=)
c.1950+8T= (n.1950+8T=)
c.*1807+8T= (n.*1807+8T=)
c.1974+8T= (n.1974+8T=)
c.2055+8T= (n.2055+8T=)
n.310-3774T=
c.762+8T= (n.762+8T=)
c.1839+8T= (n.1839+8T=)
c.1926+8T= (n.1926+8T=)
n.779+8T=
n.455T=
c.2178+8T= (n.2178+8T=)
c.2031+8T= (n.2031+8T=)
c.2032-2171T= (n.2032-2171T=)
c.2019+8T= (n.2019+8T=)
c.1998+8T= (n.1998+8T=)
c.2187+8T= (n.2187+8T=)
c.2106+8T= (n.2106+8T=)
c.2040+8T= (n.2040+8T=)
c.1920+8T= (n.1920+8T=)
c.1827+8T= (n.1827+8T=)
c.1563+8T= (n.1563+8T=)
c.2007+8T= (n.2007+8T=)
c.1932+8T= (n.1932+8T=)
1g.92607573A>CCA1180836710EVI5c.1959+8T>G (n.1959+8T>G)
c.1950+8T>G (n.1950+8T>G)
c.*1807+8T>G (n.*1807+8T>G)
c.1974+8T>G (n.1974+8T>G)
c.2055+8T>G (n.2055+8T>G)
n.310-3774T>G
c.762+8T>G (n.762+8T>G)
c.1839+8T>G (n.1839+8T>G)
c.1926+8T>G (n.1926+8T>G)
n.779+8T>G
n.455T>G
c.2178+8T>G (n.2178+8T>G)
c.2031+8T>G (n.2031+8T>G)
c.2032-2171T>G (n.2032-2171T>G)
c.2019+8T>G (n.2019+8T>G)
c.1998+8T>G (n.1998+8T>G)
c.2187+8T>G (n.2187+8T>G)
c.2106+8T>G (n.2106+8T>G)
c.2040+8T>G (n.2040+8T>G)
c.1920+8T>G (n.1920+8T>G)
c.1827+8T>G (n.1827+8T>G)
c.1563+8T>G (n.1563+8T>G)
c.2007+8T>G (n.2007+8T>G)
c.1932+8T>G (n.1932+8T>G)
 dbSNP
1g.92607573A>GCA1180836711EVI5c.1959+8T>C (n.1959+8T>C)
c.1950+8T>C (n.1950+8T>C)
c.*1807+8T>C (n.*1807+8T>C)
c.1974+8T>C (n.1974+8T>C)
c.2055+8T>C (n.2055+8T>C)
n.310-3774T>C
c.762+8T>C (n.762+8T>C)
c.1839+8T>C (n.1839+8T>C)
c.1926+8T>C (n.1926+8T>C)
n.779+8T>C
n.455T>C
c.2178+8T>C (n.2178+8T>C)
c.2031+8T>C (n.2031+8T>C)
c.2032-2171T>C (n.2032-2171T>C)
c.2019+8T>C (n.2019+8T>C)
c.1998+8T>C (n.1998+8T>C)
c.2187+8T>C (n.2187+8T>C)
c.2106+8T>C (n.2106+8T>C)
c.2040+8T>C (n.2040+8T>C)
c.1920+8T>C (n.1920+8T>C)
c.1827+8T>C (n.1827+8T>C)
c.1563+8T>C (n.1563+8T>C)
c.2007+8T>C (n.2007+8T>C)
c.1932+8T>C (n.1932+8T>C)
 dbSNP gnomAD v4
1g.92607574T>CCA27104232EVI5c.1959+7A>G (n.1959+7A>G)
c.1950+7A>G (n.1950+7A>G)
c.*1807+7A>G (n.*1807+7A>G)
c.1974+7A>G (n.1974+7A>G)
c.2055+7A>G (n.2055+7A>G)
n.310-3775A>G
c.762+7A>G (n.762+7A>G)
c.1839+7A>G (n.1839+7A>G)
c.1926+7A>G (n.1926+7A>G)
n.779+7A>G
n.454A>G
c.2178+7A>G (n.2178+7A>G)
c.2031+7A>G (n.2031+7A>G)
c.2032-2172A>G (n.2032-2172A>G)
c.2019+7A>G (n.2019+7A>G)
c.1998+7A>G (n.1998+7A>G)
c.2187+7A>G (n.2187+7A>G)
c.2106+7A>G (n.2106+7A>G)
c.2040+7A>G (n.2040+7A>G)
c.1920+7A>G (n.1920+7A>G)
c.1827+7A>G (n.1827+7A>G)
c.1563+7A>G (n.1563+7A>G)
c.2007+7A>G (n.2007+7A>G)
c.1932+7A>G (n.1932+7A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.92607574T=CA1180836713EVI5c.1959+7A= (n.1959+7A=)
c.1950+7A= (n.1950+7A=)
c.*1807+7A= (n.*1807+7A=)
c.1974+7A= (n.1974+7A=)
c.2055+7A= (n.2055+7A=)
n.310-3775A=
c.762+7A= (n.762+7A=)
c.1839+7A= (n.1839+7A=)
c.1926+7A= (n.1926+7A=)
n.779+7A=
n.454A=
c.2178+7A= (n.2178+7A=)
c.2031+7A= (n.2031+7A=)
c.2032-2172A= (n.2032-2172A=)
c.2019+7A= (n.2019+7A=)
c.1998+7A= (n.1998+7A=)
c.2187+7A= (n.2187+7A=)
c.2106+7A= (n.2106+7A=)
c.2040+7A= (n.2040+7A=)
c.1920+7A= (n.1920+7A=)
c.1827+7A= (n.1827+7A=)
c.1563+7A= (n.1563+7A=)
c.2007+7A= (n.2007+7A=)
c.1932+7A= (n.1932+7A=)
1g.92607576T>ACA951679EVI5c.1959+5A>T (n.1959+5A>T)
c.1950+5A>T (n.1950+5A>T)
c.*1807+5A>T (n.*1807+5A>T)
c.1974+5A>T (n.1974+5A>T)
c.2055+5A>T (n.2055+5A>T)
n.310-3777A>T
c.762+5A>T (n.762+5A>T)
c.1839+5A>T (n.1839+5A>T)
c.1926+5A>T (n.1926+5A>T)
n.779+5A>T
n.452A>T
c.2178+5A>T (n.2178+5A>T)
c.2031+5A>T (n.2031+5A>T)
c.2032-2174A>T (n.2032-2174A>T)
c.2019+5A>T (n.2019+5A>T)
c.1998+5A>T (n.1998+5A>T)
c.2187+5A>T (n.2187+5A>T)
c.2106+5A>T (n.2106+5A>T)
c.2040+5A>T (n.2040+5A>T)
c.1920+5A>T (n.1920+5A>T)
c.1827+5A>T (n.1827+5A>T)
c.1563+5A>T (n.1563+5A>T)
c.2007+5A>T (n.2007+5A>T)
c.1932+5A>T (n.1932+5A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.92607576T>CCA2646588451EVI5c.1959+5A>G (n.1959+5A>G)
c.1950+5A>G (n.1950+5A>G)
c.*1807+5A>G (n.*1807+5A>G)
c.1974+5A>G (n.1974+5A>G)
c.2055+5A>G (n.2055+5A>G)
n.310-3777A>G
c.762+5A>G (n.762+5A>G)
c.1839+5A>G (n.1839+5A>G)
c.1926+5A>G (n.1926+5A>G)
n.779+5A>G
n.452A>G
c.2178+5A>G (n.2178+5A>G)
c.2031+5A>G (n.2031+5A>G)
c.2032-2174A>G (n.2032-2174A>G)
c.2019+5A>G (n.2019+5A>G)
c.1998+5A>G (n.1998+5A>G)
c.2187+5A>G (n.2187+5A>G)
c.2106+5A>G (n.2106+5A>G)
c.2040+5A>G (n.2040+5A>G)
c.1920+5A>G (n.1920+5A>G)
c.1827+5A>G (n.1827+5A>G)
c.1563+5A>G (n.1563+5A>G)
c.2007+5A>G (n.2007+5A>G)
c.1932+5A>G (n.1932+5A>G)
 gnomAD v4
1g.92607576T=CA1143475542EVI5c.1959+5A= (n.1959+5A=)
c.1950+5A= (n.1950+5A=)
c.*1807+5A= (n.*1807+5A=)
c.1974+5A= (n.1974+5A=)
c.2055+5A= (n.2055+5A=)
n.310-3777A=
c.762+5A= (n.762+5A=)
c.1839+5A= (n.1839+5A=)
c.1926+5A= (n.1926+5A=)
n.779+5A=
n.452A=
c.2178+5A= (n.2178+5A=)
c.2031+5A= (n.2031+5A=)
c.2032-2174A= (n.2032-2174A=)
c.2019+5A= (n.2019+5A=)
c.1998+5A= (n.1998+5A=)
c.2187+5A= (n.2187+5A=)
c.2106+5A= (n.2106+5A=)
c.2040+5A= (n.2040+5A=)
c.1920+5A= (n.1920+5A=)
c.1827+5A= (n.1827+5A=)
c.1563+5A= (n.1563+5A=)
c.2007+5A= (n.2007+5A=)
c.1932+5A= (n.1932+5A=)
1g.92607578T>CCA2646588453EVI5c.1959+3A>G (n.1959+3A>G)
c.1950+3A>G (n.1950+3A>G)
c.*1807+3A>G (n.*1807+3A>G)
c.1974+3A>G (n.1974+3A>G)
c.2055+3A>G (n.2055+3A>G)
n.310-3779A>G
c.762+3A>G (n.762+3A>G)
c.1839+3A>G (n.1839+3A>G)
c.1926+3A>G (n.1926+3A>G)
n.779+3A>G
n.450A>G
c.2178+3A>G (n.2178+3A>G)
c.2031+3A>G (n.2031+3A>G)
c.2032-2176A>G (n.2032-2176A>G)
c.2019+3A>G (n.2019+3A>G)
c.1998+3A>G (n.1998+3A>G)
c.2187+3A>G (n.2187+3A>G)
c.2106+3A>G (n.2106+3A>G)
c.2040+3A>G (n.2040+3A>G)
c.1920+3A>G (n.1920+3A>G)
c.1827+3A>G (n.1827+3A>G)
c.1563+3A>G (n.1563+3A>G)
c.2007+3A>G (n.2007+3A>G)
c.1932+3A>G (n.1932+3A>G)
 gnomAD v4
1g.92607579A=CA1180836716EVI5c.1959+2T= (n.1959+2T=)
c.1950+2T= (n.1950+2T=)
c.*1807+2T= (n.*1807+2T=)
c.1974+2T= (n.1974+2T=)
c.2055+2T= (n.2055+2T=)
n.310-3780T=
c.762+2T= (n.762+2T=)
c.1839+2T= (n.1839+2T=)
c.1926+2T= (n.1926+2T=)
n.779+2T=
n.449T=
c.2178+2T= (n.2178+2T=)
c.2031+2T= (n.2031+2T=)
c.2032-2177T= (n.2032-2177T=)
c.2019+2T= (n.2019+2T=)
c.1998+2T= (n.1998+2T=)
c.2187+2T= (n.2187+2T=)
c.2106+2T= (n.2106+2T=)
c.2040+2T= (n.2040+2T=)
c.1920+2T= (n.1920+2T=)
c.1827+2T= (n.1827+2T=)
c.1563+2T= (n.1563+2T=)
c.2007+2T= (n.2007+2T=)
c.1932+2T= (n.1932+2T=)
1g.92607579A>CCA341151776EVI5c.1959+2T>G (n.1959+2T>G)
c.1950+2T>G (n.1950+2T>G)
c.*1807+2T>G (n.*1807+2T>G)
c.1974+2T>G (n.1974+2T>G)
c.2055+2T>G (n.2055+2T>G)
n.310-3780T>G
c.762+2T>G (n.762+2T>G)
c.1839+2T>G (n.1839+2T>G)
c.1926+2T>G (n.1926+2T>G)
n.779+2T>G
n.449T>G
c.2178+2T>G (n.2178+2T>G)
c.2031+2T>G (n.2031+2T>G)
c.2032-2177T>G (n.2032-2177T>G)
c.2019+2T>G (n.2019+2T>G)
c.1998+2T>G (n.1998+2T>G)
c.2187+2T>G (n.2187+2T>G)
c.2106+2T>G (n.2106+2T>G)
c.2040+2T>G (n.2040+2T>G)
c.1920+2T>G (n.1920+2T>G)
c.1827+2T>G (n.1827+2T>G)
c.1563+2T>G (n.1563+2T>G)
c.2007+2T>G (n.2007+2T>G)
c.1932+2T>G (n.1932+2T>G)
 dbSNP
1g.92607579A>GCA341151777EVI5c.1959+2T>C (n.1959+2T>C)
c.1950+2T>C (n.1950+2T>C)
c.*1807+2T>C (n.*1807+2T>C)
c.1974+2T>C (n.1974+2T>C)
c.2055+2T>C (n.2055+2T>C)
n.310-3780T>C
c.762+2T>C (n.762+2T>C)
c.1839+2T>C (n.1839+2T>C)
c.1926+2T>C (n.1926+2T>C)
n.779+2T>C
n.449T>C
c.2178+2T>C (n.2178+2T>C)
c.2031+2T>C (n.2031+2T>C)
c.2032-2177T>C (n.2032-2177T>C)
c.2019+2T>C (n.2019+2T>C)
c.1998+2T>C (n.1998+2T>C)
c.2187+2T>C (n.2187+2T>C)
c.2106+2T>C (n.2106+2T>C)
c.2040+2T>C (n.2040+2T>C)
c.1920+2T>C (n.1920+2T>C)
c.1827+2T>C (n.1827+2T>C)
c.1563+2T>C (n.1563+2T>C)
c.2007+2T>C (n.2007+2T>C)
c.1932+2T>C (n.1932+2T>C)
1g.92607579A>TCA341151779EVI5c.1959+2T>A (n.1959+2T>A)
c.1950+2T>A (n.1950+2T>A)
c.*1807+2T>A (n.*1807+2T>A)
c.1974+2T>A (n.1974+2T>A)
c.2055+2T>A (n.2055+2T>A)
n.310-3780T>A
c.762+2T>A (n.762+2T>A)
c.1839+2T>A (n.1839+2T>A)
c.1926+2T>A (n.1926+2T>A)
n.779+2T>A
n.449T>A
c.2178+2T>A (n.2178+2T>A)
c.2031+2T>A (n.2031+2T>A)
c.2032-2177T>A (n.2032-2177T>A)
c.2019+2T>A (n.2019+2T>A)
c.1998+2T>A (n.1998+2T>A)
c.2187+2T>A (n.2187+2T>A)
c.2106+2T>A (n.2106+2T>A)
c.2040+2T>A (n.2040+2T>A)
c.1920+2T>A (n.1920+2T>A)
c.1827+2T>A (n.1827+2T>A)
c.1563+2T>A (n.1563+2T>A)
c.2007+2T>A (n.2007+2T>A)
c.1932+2T>A (n.1932+2T>A)
1g.92607580C>ACA341151782EVI5c.1959+1G>T (n.1959+1G>T)
c.1950+1G>T (n.1950+1G>T)
c.*1807+1G>T (n.*1807+1G>T)
c.1974+1G>T (n.1974+1G>T)
c.2055+1G>T (n.2055+1G>T)
n.310-3781G>T
c.762+1G>T (n.762+1G>T)
c.1839+1G>T (n.1839+1G>T)
c.1926+1G>T (n.1926+1G>T)
n.779+1G>T
n.448G>T
c.2178+1G>T (n.2178+1G>T)
c.2031+1G>T (n.2031+1G>T)
c.2032-2178G>T (n.2032-2178G>T)
c.2019+1G>T (n.2019+1G>T)
c.1998+1G>T (n.1998+1G>T)
c.2187+1G>T (n.2187+1G>T)
c.2106+1G>T (n.2106+1G>T)
c.2040+1G>T (n.2040+1G>T)
c.1920+1G>T (n.1920+1G>T)
c.1827+1G>T (n.1827+1G>T)
c.1563+1G>T (n.1563+1G>T)
c.2007+1G>T (n.2007+1G>T)
c.1932+1G>T (n.1932+1G>T)
 gnomAD v4
1g.92607580C>GCA341151786EVI5c.1959+1G>C (n.1959+1G>C)
c.1950+1G>C (n.1950+1G>C)
c.*1807+1G>C (n.*1807+1G>C)
c.1974+1G>C (n.1974+1G>C)
c.2055+1G>C (n.2055+1G>C)
n.310-3781G>C
c.762+1G>C (n.762+1G>C)
c.1839+1G>C (n.1839+1G>C)
c.1926+1G>C (n.1926+1G>C)
n.779+1G>C
n.448G>C
c.2178+1G>C (n.2178+1G>C)
c.2031+1G>C (n.2031+1G>C)
c.2032-2178G>C (n.2032-2178G>C)
c.2019+1G>C (n.2019+1G>C)
c.1998+1G>C (n.1998+1G>C)
c.2187+1G>C (n.2187+1G>C)
c.2106+1G>C (n.2106+1G>C)
c.2040+1G>C (n.2040+1G>C)
c.1920+1G>C (n.1920+1G>C)
c.1827+1G>C (n.1827+1G>C)
c.1563+1G>C (n.1563+1G>C)
c.2007+1G>C (n.2007+1G>C)
c.1932+1G>C (n.1932+1G>C)
1g.92607580C>TCA341151787EVI5c.1959+1G>A (n.1959+1G>A)
c.1950+1G>A (n.1950+1G>A)
c.*1807+1G>A (n.*1807+1G>A)
c.1974+1G>A (n.1974+1G>A)
c.2055+1G>A (n.2055+1G>A)
n.310-3781G>A
c.762+1G>A (n.762+1G>A)
c.1839+1G>A (n.1839+1G>A)
c.1926+1G>A (n.1926+1G>A)
n.779+1G>A
n.448G>A
c.2178+1G>A (n.2178+1G>A)
c.2031+1G>A (n.2031+1G>A)
c.2032-2178G>A (n.2032-2178G>A)
c.2019+1G>A (n.2019+1G>A)
c.1998+1G>A (n.1998+1G>A)
c.2187+1G>A (n.2187+1G>A)
c.2106+1G>A (n.2106+1G>A)
c.2040+1G>A (n.2040+1G>A)
c.1920+1G>A (n.1920+1G>A)
c.1827+1G>A (n.1827+1G>A)
c.1563+1G>A (n.1563+1G>A)
c.2007+1G>A (n.2007+1G>A)
c.1932+1G>A (n.1932+1G>A)
 dbSNP gnomAD v4
1g.92607581C>ACA341151789EVI5c.1959G>T (p.Lys653Asn)
c.1950G>T (p.Lys650Asn)
c.*1807G>T (n.*1807G>T)
c.1974G>T (p.Lys658Asn)
c.2055G>T (p.Lys685Asn)
n.310-3782G>T
c.762G>T (p.Lys254Asn)
c.1839G>T (p.Lys613Asn)
c.1926G>T (p.Lys642Asn)
n.779G>T
n.447G>T
c.2178G>T (p.Lys726Asn)
c.2031G>T (p.Lys677Asn)
c.2032-2179G>T (n.2032-2179G>T)
c.2019G>T (p.Lys673Asn)
c.1998G>T (p.Lys666Asn)
c.2187G>T (p.Lys729Asn)
c.2106G>T (p.Lys702Asn)
c.2040G>T (p.Lys680Asn)
c.1920G>T (p.Lys640Asn)
c.1827G>T (p.Lys609Asn)
c.1563G>T (p.Lys521Asn)
c.2007G>T (p.Lys669Asn)
c.1932G>T (p.Lys644Asn)
 gnomAD v4
1g.92607581C>GCA341151790EVI5c.1959G>C (p.Lys653Asn)
c.1950G>C (p.Lys650Asn)
c.*1807G>C (n.*1807G>C)
c.1974G>C (p.Lys658Asn)
c.2055G>C (p.Lys685Asn)
n.310-3782G>C
c.762G>C (p.Lys254Asn)
c.1839G>C (p.Lys613Asn)
c.1926G>C (p.Lys642Asn)
n.779G>C
n.447G>C
c.2178G>C (p.Lys726Asn)
c.2031G>C (p.Lys677Asn)
c.2032-2179G>C (n.2032-2179G>C)
c.2019G>C (p.Lys673Asn)
c.1998G>C (p.Lys666Asn)
c.2187G>C (p.Lys729Asn)
c.2106G>C (p.Lys702Asn)
c.2040G>C (p.Lys680Asn)
c.1920G>C (p.Lys640Asn)
c.1827G>C (p.Lys609Asn)
c.1563G>C (p.Lys521Asn)
c.2007G>C (p.Lys669Asn)
c.1932G>C (p.Lys644Asn)
1g.92607581C>TCA418958525EVI5c.1959G>A (p.Lys653=)
c.1950G>A (p.Lys650=)
c.*1807G>A (n.*1807G>A)
c.1974G>A (p.Lys658=)
c.2055G>A (p.Lys685=)
n.310-3782G>A
c.762G>A (p.Lys254=)
c.1839G>A (p.Lys613=)
c.1926G>A (p.Lys642=)
n.779G>A
n.447G>A
c.2178G>A (p.Lys726=)
c.2031G>A (p.Lys677=)
c.2032-2179G>A (n.2032-2179G>A)
c.2019G>A (p.Lys673=)
c.1998G>A (p.Lys666=)
c.2187G>A (p.Lys729=)
c.2106G>A (p.Lys702=)
c.2040G>A (p.Lys680=)
c.1920G>A (p.Lys640=)
c.1827G>A (p.Lys609=)
c.1563G>A (p.Lys521=)
c.2007G>A (p.Lys669=)
c.1932G>A (p.Lys644=)
 gnomAD v4
1g.92607582T>ACA341151799EVI5c.1958A>T (p.Lys653Met)
c.1949A>T (p.Lys650Met)
c.*1806A>T (n.*1806A>T)
c.1973A>T (p.Lys658Met)
c.2054A>T (p.Lys685Met)
n.310-3783A>T
c.761A>T (p.Lys254Met)
c.1838A>T (p.Lys613Met)
c.1925A>T (p.Lys642Met)
n.778A>T
n.446A>T
c.2177A>T (p.Lys726Met)
c.2030A>T (p.Lys677Met)
c.2032-2180A>T (n.2032-2180A>T)
c.2018A>T (p.Lys673Met)
c.1997A>T (p.Lys666Met)
c.2186A>T (p.Lys729Met)
c.2105A>T (p.Lys702Met)
c.2039A>T (p.Lys680Met)
c.1919A>T (p.Lys640Met)
c.1826A>T (p.Lys609Met)
c.1562A>T (p.Lys521Met)
c.2006A>T (p.Lys669Met)
c.1931A>T (p.Lys644Met)
1g.92607582T>CCA341151797EVI5c.1958A>G (p.Lys653Arg)
c.1949A>G (p.Lys650Arg)
c.*1806A>G (n.*1806A>G)
c.1973A>G (p.Lys658Arg)
c.2054A>G (p.Lys685Arg)
n.310-3783A>G
c.761A>G (p.Lys254Arg)
c.1838A>G (p.Lys613Arg)
c.1925A>G (p.Lys642Arg)
n.778A>G
n.446A>G
c.2177A>G (p.Lys726Arg)
c.2030A>G (p.Lys677Arg)
c.2032-2180A>G (n.2032-2180A>G)
c.2018A>G (p.Lys673Arg)
c.1997A>G (p.Lys666Arg)
c.2186A>G (p.Lys729Arg)
c.2105A>G (p.Lys702Arg)
c.2039A>G (p.Lys680Arg)
c.1919A>G (p.Lys640Arg)
c.1826A>G (p.Lys609Arg)
c.1562A>G (p.Lys521Arg)
c.2006A>G (p.Lys669Arg)
c.1931A>G (p.Lys644Arg)
 dbSNP gnomAD v4
1g.92607582T>GCA341151795EVI5c.1958A>C (p.Lys653Thr)
c.1949A>C (p.Lys650Thr)
c.*1806A>C (n.*1806A>C)
c.1973A>C (p.Lys658Thr)
c.2054A>C (p.Lys685Thr)
n.310-3783A>C
c.761A>C (p.Lys254Thr)
c.1838A>C (p.Lys613Thr)
c.1925A>C (p.Lys642Thr)
n.778A>C
n.446A>C
c.2177A>C (p.Lys726Thr)
c.2030A>C (p.Lys677Thr)
c.2032-2180A>C (n.2032-2180A>C)
c.2018A>C (p.Lys673Thr)
c.1997A>C (p.Lys666Thr)
c.2186A>C (p.Lys729Thr)
c.2105A>C (p.Lys702Thr)
c.2039A>C (p.Lys680Thr)
c.1919A>C (p.Lys640Thr)
c.1826A>C (p.Lys609Thr)
c.1562A>C (p.Lys521Thr)
c.2006A>C (p.Lys669Thr)
c.1931A>C (p.Lys644Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.92607582T=CA1180836720EVI5c.1958A= (p.Lys653=)
c.1949A= (p.Lys650=)
c.*1806A= (n.*1806A=)
c.1973A= (p.Lys658=)
c.2054A= (p.Lys685=)
n.310-3783A=
c.761A= (p.Lys254=)
c.1838A= (p.Lys613=)
c.1925A= (p.Lys642=)
n.778A=
n.446A=
c.2177A= (p.Lys726=)
c.2030A= (p.Lys677=)
c.2032-2180A= (n.2032-2180A=)
c.2018A= (p.Lys673=)
c.1997A= (p.Lys666=)
c.2186A= (p.Lys729=)
c.2105A= (p.Lys702=)
c.2039A= (p.Lys680=)
c.1919A= (p.Lys640=)
c.1826A= (p.Lys609=)
c.1562A= (p.Lys521=)
c.2006A= (p.Lys669=)
c.1931A= (p.Lys644=)
1g.92607583T>ACA341151801EVI5c.1957A>T (p.Lys653Ter)
c.1948A>T (p.Lys650Ter)
c.*1805A>T (n.*1805A>T)
c.1972A>T (p.Lys658Ter)
c.2053A>T (p.Lys685Ter)
n.310-3784A>T
c.760A>T (p.Lys254Ter)
c.1837A>T (p.Lys613Ter)
c.1924A>T (p.Lys642Ter)
n.777A>T
n.445A>T
c.2176A>T (p.Lys726Ter)
c.2029A>T (p.Lys677Ter)
c.2032-2181A>T (n.2032-2181A>T)
c.2017A>T (p.Lys673Ter)
c.1996A>T (p.Lys666Ter)
c.2185A>T (p.Lys729Ter)
c.2104A>T (p.Lys702Ter)
c.2038A>T (p.Lys680Ter)
c.1918A>T (p.Lys640Ter)
c.1825A>T (p.Lys609Ter)
c.1561A>T (p.Lys521Ter)
c.2005A>T (p.Lys669Ter)
c.1930A>T (p.Lys644Ter)
1g.92607583T>CCA341151802EVI5c.1957A>G (p.Lys653Glu)
c.1948A>G (p.Lys650Glu)
c.*1805A>G (n.*1805A>G)
c.1972A>G (p.Lys658Glu)
c.2053A>G (p.Lys685Glu)
n.310-3784A>G
c.760A>G (p.Lys254Glu)
c.1837A>G (p.Lys613Glu)
c.1924A>G (p.Lys642Glu)
n.777A>G
n.445A>G
c.2176A>G (p.Lys726Glu)
c.2029A>G (p.Lys677Glu)
c.2032-2181A>G (n.2032-2181A>G)
c.2017A>G (p.Lys673Glu)
c.1996A>G (p.Lys666Glu)
c.2185A>G (p.Lys729Glu)
c.2104A>G (p.Lys702Glu)
c.2038A>G (p.Lys680Glu)
c.1918A>G (p.Lys640Glu)
c.1825A>G (p.Lys609Glu)
c.1561A>G (p.Lys521Glu)
c.2005A>G (p.Lys669Glu)
c.1930A>G (p.Lys644Glu)
1g.92607583T>GCA341151804EVI5c.1957A>C (p.Lys653Gln)
c.1948A>C (p.Lys650Gln)
c.*1805A>C (n.*1805A>C)
c.1972A>C (p.Lys658Gln)
c.2053A>C (p.Lys685Gln)
n.310-3784A>C
c.760A>C (p.Lys254Gln)
c.1837A>C (p.Lys613Gln)
c.1924A>C (p.Lys642Gln)
n.777A>C
n.445A>C
c.2176A>C (p.Lys726Gln)
c.2029A>C (p.Lys677Gln)
c.2032-2181A>C (n.2032-2181A>C)
c.2017A>C (p.Lys673Gln)
c.1996A>C (p.Lys666Gln)
c.2185A>C (p.Lys729Gln)
c.2104A>C (p.Lys702Gln)
c.2038A>C (p.Lys680Gln)
c.1918A>C (p.Lys640Gln)
c.1825A>C (p.Lys609Gln)
c.1561A>C (p.Lys521Gln)
c.2005A>C (p.Lys669Gln)
c.1930A>C (p.Lys644Gln)
1g.92607584G>ACA418958535EVI5c.1956C>T (p.Cys652=)
c.1947C>T (p.Cys649=)
c.*1804C>T (n.*1804C>T)
c.1971C>T (p.Cys657=)
c.2052C>T (p.Cys684=)
n.310-3785C>T
c.759C>T (p.Cys253=)
c.1836C>T (p.Cys612=)
c.1923C>T (p.Cys641=)
n.776C>T
n.444C>T
c.2175C>T (p.Cys725=)
c.2028C>T (p.Cys676=)
c.2032-2182C>T (n.2032-2182C>T)
c.2016C>T (p.Cys672=)
c.1995C>T (p.Cys665=)
c.2184C>T (p.Cys728=)
c.2103C>T (p.Cys701=)
c.2037C>T (p.Cys679=)
c.1917C>T (p.Cys639=)
c.1824C>T (p.Cys608=)
c.1560C>T (p.Cys520=)
c.2004C>T (p.Cys668=)
c.1929C>T (p.Cys643=)
 gnomAD v4
1g.92607584G>CCA341151805EVI5c.1956C>G (p.Cys652Trp)
c.1947C>G (p.Cys649Trp)
c.*1804C>G (n.*1804C>G)
c.1971C>G (p.Cys657Trp)
c.2052C>G (p.Cys684Trp)
n.310-3785C>G
c.759C>G (p.Cys253Trp)
c.1836C>G (p.Cys612Trp)
c.1923C>G (p.Cys641Trp)
n.776C>G
n.444C>G
c.2175C>G (p.Cys725Trp)
c.2028C>G (p.Cys676Trp)
c.2032-2182C>G (n.2032-2182C>G)
c.2016C>G (p.Cys672Trp)
c.1995C>G (p.Cys665Trp)
c.2184C>G (p.Cys728Trp)
c.2103C>G (p.Cys701Trp)
c.2037C>G (p.Cys679Trp)
c.1917C>G (p.Cys639Trp)
c.1824C>G (p.Cys608Trp)
c.1560C>G (p.Cys520Trp)
c.2004C>G (p.Cys668Trp)
c.1929C>G (p.Cys643Trp)
1g.92607584G>TCA341151807EVI5c.1956C>A (p.Cys652Ter)
c.1947C>A (p.Cys649Ter)
c.*1804C>A (n.*1804C>A)
c.1971C>A (p.Cys657Ter)
c.2052C>A (p.Cys684Ter)
n.310-3785C>A
c.759C>A (p.Cys253Ter)
c.1836C>A (p.Cys612Ter)
c.1923C>A (p.Cys641Ter)
n.776C>A
n.444C>A
c.2175C>A (p.Cys725Ter)
c.2028C>A (p.Cys676Ter)
c.2032-2182C>A (n.2032-2182C>A)
c.2016C>A (p.Cys672Ter)
c.1995C>A (p.Cys665Ter)
c.2184C>A (p.Cys728Ter)
c.2103C>A (p.Cys701Ter)
c.2037C>A (p.Cys679Ter)
c.1917C>A (p.Cys639Ter)
c.1824C>A (p.Cys608Ter)
c.1560C>A (p.Cys520Ter)
c.2004C>A (p.Cys668Ter)
c.1929C>A (p.Cys643Ter)
1g.92607585C>ACA341151809EVI5c.1955G>T (p.Cys652Phe)
c.1946G>T (p.Cys649Phe)
c.*1803G>T (n.*1803G>T)
c.1970G>T (p.Cys657Phe)
c.2051G>T (p.Cys684Phe)
n.310-3786G>T
c.758G>T (p.Cys253Phe)
c.1835G>T (p.Cys612Phe)
c.1922G>T (p.Cys641Phe)
n.775G>T
n.443G>T
c.2174G>T (p.Cys725Phe)
c.2027G>T (p.Cys676Phe)
c.2032-2183G>T (n.2032-2183G>T)
c.2015G>T (p.Cys672Phe)
c.1994G>T (p.Cys665Phe)
c.2183G>T (p.Cys728Phe)
c.2102G>T (p.Cys701Phe)
c.2036G>T (p.Cys679Phe)
c.1916G>T (p.Cys639Phe)
c.1823G>T (p.Cys608Phe)
c.1559G>T (p.Cys520Phe)
c.2003G>T (p.Cys668Phe)
c.1928G>T (p.Cys643Phe)
 gnomAD v4
1g.92607585C>GCA341151811EVI5c.1955G>C (p.Cys652Ser)
c.1946G>C (p.Cys649Ser)
c.*1803G>C (n.*1803G>C)
c.1970G>C (p.Cys657Ser)
c.2051G>C (p.Cys684Ser)
n.310-3786G>C
c.758G>C (p.Cys253Ser)
c.1835G>C (p.Cys612Ser)
c.1922G>C (p.Cys641Ser)
n.775G>C
n.443G>C
c.2174G>C (p.Cys725Ser)
c.2027G>C (p.Cys676Ser)
c.2032-2183G>C (n.2032-2183G>C)
c.2015G>C (p.Cys672Ser)
c.1994G>C (p.Cys665Ser)
c.2183G>C (p.Cys728Ser)
c.2102G>C (p.Cys701Ser)
c.2036G>C (p.Cys679Ser)
c.1916G>C (p.Cys639Ser)
c.1823G>C (p.Cys608Ser)
c.1559G>C (p.Cys520Ser)
c.2003G>C (p.Cys668Ser)
c.1928G>C (p.Cys643Ser)
1g.92607585C>TCA341151812EVI5c.1955G>A (p.Cys652Tyr)
c.1946G>A (p.Cys649Tyr)
c.*1803G>A (n.*1803G>A)
c.1970G>A (p.Cys657Tyr)
c.2051G>A (p.Cys684Tyr)
n.310-3786G>A
c.758G>A (p.Cys253Tyr)
c.1835G>A (p.Cys612Tyr)
c.1922G>A (p.Cys641Tyr)
n.775G>A
n.443G>A
c.2174G>A (p.Cys725Tyr)
c.2027G>A (p.Cys676Tyr)
c.2032-2183G>A (n.2032-2183G>A)
c.2015G>A (p.Cys672Tyr)
c.1994G>A (p.Cys665Tyr)
c.2183G>A (p.Cys728Tyr)
c.2102G>A (p.Cys701Tyr)
c.2036G>A (p.Cys679Tyr)
c.1916G>A (p.Cys639Tyr)
c.1823G>A (p.Cys608Tyr)
c.1559G>A (p.Cys520Tyr)
c.2003G>A (p.Cys668Tyr)
c.1928G>A (p.Cys643Tyr)
 gnomAD v4
1g.92607586A=CA1143526590EVI5c.1954T= (p.Cys652=)
c.1945T= (p.Cys649=)
c.*1802T= (n.*1802T=)
c.1969T= (p.Cys657=)
c.2050T= (p.Cys684=)
n.310-3787T=
c.757T= (p.Cys253=)
c.1834T= (p.Cys612=)
c.1921T= (p.Cys641=)
n.774T=
n.442T=
c.2173T= (p.Cys725=)
c.2026T= (p.Cys676=)
c.2032-2184T= (n.2032-2184T=)
c.2014T= (p.Cys672=)
c.1993T= (p.Cys665=)
c.2182T= (p.Cys728=)
c.2101T= (p.Cys701=)
c.2035T= (p.Cys679=)
c.1915T= (p.Cys639=)
c.1822T= (p.Cys608=)
c.1558T= (p.Cys520=)
c.2002T= (p.Cys668=)
c.1927T= (p.Cys643=)
1g.92607586A>CCA341151813EVI5c.1954T>G (p.Cys652Gly)
c.1945T>G (p.Cys649Gly)
c.*1802T>G (n.*1802T>G)
c.1969T>G (p.Cys657Gly)
c.2050T>G (p.Cys684Gly)
n.310-3787T>G
c.757T>G (p.Cys253Gly)
c.1834T>G (p.Cys612Gly)
c.1921T>G (p.Cys641Gly)
n.774T>G
n.442T>G
c.2173T>G (p.Cys725Gly)
c.2026T>G (p.Cys676Gly)
c.2032-2184T>G (n.2032-2184T>G)
c.2014T>G (p.Cys672Gly)
c.1993T>G (p.Cys665Gly)
c.2182T>G (p.Cys728Gly)
c.2101T>G (p.Cys701Gly)
c.2035T>G (p.Cys679Gly)
c.1915T>G (p.Cys639Gly)
c.1822T>G (p.Cys608Gly)
c.1558T>G (p.Cys520Gly)
c.2002T>G (p.Cys668Gly)
c.1927T>G (p.Cys643Gly)
1g.92607586A>GCA27104233EVI5c.1954T>C (p.Cys652Arg)
c.1945T>C (p.Cys649Arg)
c.*1802T>C (n.*1802T>C)
c.1969T>C (p.Cys657Arg)
c.2050T>C (p.Cys684Arg)
n.310-3787T>C
c.757T>C (p.Cys253Arg)
c.1834T>C (p.Cys612Arg)
c.1921T>C (p.Cys641Arg)
n.774T>C
n.442T>C
c.2173T>C (p.Cys725Arg)
c.2026T>C (p.Cys676Arg)
c.2032-2184T>C (n.2032-2184T>C)
c.2014T>C (p.Cys672Arg)
c.1993T>C (p.Cys665Arg)
c.2182T>C (p.Cys728Arg)
c.2101T>C (p.Cys701Arg)
c.2035T>C (p.Cys679Arg)
c.1915T>C (p.Cys639Arg)
c.1822T>C (p.Cys608Arg)
c.1558T>C (p.Cys520Arg)
c.2002T>C (p.Cys668Arg)
c.1927T>C (p.Cys643Arg)
 dbSNP gnomAD v4
1g.92607586A>TCA341151815EVI5c.1954T>A (p.Cys652Ser)
c.1945T>A (p.Cys649Ser)
c.*1802T>A (n.*1802T>A)
c.1969T>A (p.Cys657Ser)
c.2050T>A (p.Cys684Ser)
n.310-3787T>A
c.757T>A (p.Cys253Ser)
c.1834T>A (p.Cys612Ser)
c.1921T>A (p.Cys641Ser)
n.774T>A
n.442T>A
c.2173T>A (p.Cys725Ser)
c.2026T>A (p.Cys676Ser)
c.2032-2184T>A (n.2032-2184T>A)
c.2014T>A (p.Cys672Ser)
c.1993T>A (p.Cys665Ser)
c.2182T>A (p.Cys728Ser)
c.2101T>A (p.Cys701Ser)
c.2035T>A (p.Cys679Ser)
c.1915T>A (p.Cys639Ser)
c.1822T>A (p.Cys608Ser)
c.1558T>A (p.Cys520Ser)
c.2002T>A (p.Cys668Ser)
c.1927T>A (p.Cys643Ser)
1g.92607587T>ACA341151817EVI5c.1953A>T (p.Glu651Asp)
c.1944A>T (p.Glu648Asp)
c.*1801A>T (n.*1801A>T)
c.1968A>T (p.Glu656Asp)
c.2049A>T (p.Glu683Asp)
n.310-3788A>T
c.756A>T (p.Glu252Asp)
c.1833A>T (p.Glu611Asp)
c.1920A>T (p.Glu640Asp)
n.773A>T
n.441A>T
c.2172A>T (p.Glu724Asp)
c.2025A>T (p.Glu675Asp)
c.2032-2185A>T (n.2032-2185A>T)
c.2013A>T (p.Glu671Asp)
c.1992A>T (p.Glu664Asp)
c.2181A>T (p.Glu727Asp)
c.2100A>T (p.Glu700Asp)
c.2034A>T (p.Glu678Asp)
c.1914A>T (p.Glu638Asp)
c.1821A>T (p.Glu607Asp)
c.1557A>T (p.Glu519Asp)
c.2001A>T (p.Glu667Asp)
c.1926A>T (p.Glu642Asp)
1g.92607587T>CCA418958548EVI5c.1953A>G (p.Glu651=)
c.1944A>G (p.Glu648=)
c.*1801A>G (n.*1801A>G)
c.1968A>G (p.Glu656=)
c.2049A>G (p.Glu683=)
n.310-3788A>G
c.756A>G (p.Glu252=)
c.1833A>G (p.Glu611=)
c.1920A>G (p.Glu640=)
n.773A>G
n.441A>G
c.2172A>G (p.Glu724=)
c.2025A>G (p.Glu675=)
c.2032-2185A>G (n.2032-2185A>G)
c.2013A>G (p.Glu671=)
c.1992A>G (p.Glu664=)
c.2181A>G (p.Glu727=)
c.2100A>G (p.Glu700=)
c.2034A>G (p.Glu678=)
c.1914A>G (p.Glu638=)
c.1821A>G (p.Glu607=)
c.1557A>G (p.Glu519=)
c.2001A>G (p.Glu667=)
c.1926A>G (p.Glu642=)
 dbSNP gnomAD v3 gnomAD v4
1g.92607587T>GCA341151822EVI5c.1953A>C (p.Glu651Asp)
c.1944A>C (p.Glu648Asp)
c.*1801A>C (n.*1801A>C)
c.1968A>C (p.Glu656Asp)
c.2049A>C (p.Glu683Asp)
n.310-3788A>C
c.756A>C (p.Glu252Asp)
c.1833A>C (p.Glu611Asp)
c.1920A>C (p.Glu640Asp)
n.773A>C
n.441A>C
c.2172A>C (p.Glu724Asp)
c.2025A>C (p.Glu675Asp)
c.2032-2185A>C (n.2032-2185A>C)
c.2013A>C (p.Glu671Asp)
c.1992A>C (p.Glu664Asp)
c.2181A>C (p.Glu727Asp)
c.2100A>C (p.Glu700Asp)
c.2034A>C (p.Glu678Asp)
c.1914A>C (p.Glu638Asp)
c.1821A>C (p.Glu607Asp)
c.1557A>C (p.Glu519Asp)
c.2001A>C (p.Glu667Asp)
c.1926A>C (p.Glu642Asp)
1g.92607587T=CA1180836723EVI5c.1953A= (p.Glu651=)
c.1944A= (p.Glu648=)
c.*1801A= (n.*1801A=)
c.1968A= (p.Glu656=)
c.2049A= (p.Glu683=)
n.310-3788A=
c.756A= (p.Glu252=)
c.1833A= (p.Glu611=)
c.1920A= (p.Glu640=)
n.773A=
n.441A=
c.2172A= (p.Glu724=)
c.2025A= (p.Glu675=)
c.2032-2185A= (n.2032-2185A=)
c.2013A= (p.Glu671=)
c.1992A= (p.Glu664=)
c.2181A= (p.Glu727=)
c.2100A= (p.Glu700=)
c.2034A= (p.Glu678=)
c.1914A= (p.Glu638=)
c.1821A= (p.Glu607=)
c.1557A= (p.Glu519=)
c.2001A= (p.Glu667=)
c.1926A= (p.Glu642=)
1g.92607588T>ACA341151825EVI5c.1952A>T (p.Glu651Val)
c.1943A>T (p.Glu648Val)
c.*1800A>T (n.*1800A>T)
c.1967A>T (p.Glu656Val)
c.2048A>T (p.Glu683Val)
n.310-3789A>T
c.755A>T (p.Glu252Val)
c.1832A>T (p.Glu611Val)
c.1919A>T (p.Glu640Val)
n.772A>T
n.440A>T
c.2171A>T (p.Glu724Val)
c.2024A>T (p.Glu675Val)
c.2032-2186A>T (n.2032-2186A>T)
c.2012A>T (p.Glu671Val)
c.1991A>T (p.Glu664Val)
c.2180A>T (p.Glu727Val)
c.2099A>T (p.Glu700Val)
c.2033A>T (p.Glu678Val)
c.1913A>T (p.Glu638Val)
c.1820A>T (p.Glu607Val)
c.1556A>T (p.Glu519Val)
c.2000A>T (p.Glu667Val)
c.1925A>T (p.Glu642Val)
1g.92607588T>CCA341151827EVI5c.1952A>G (p.Glu651Gly)
c.1943A>G (p.Glu648Gly)
c.*1800A>G (n.*1800A>G)
c.1967A>G (p.Glu656Gly)
c.2048A>G (p.Glu683Gly)
n.310-3789A>G
c.755A>G (p.Glu252Gly)
c.1832A>G (p.Glu611Gly)
c.1919A>G (p.Glu640Gly)
n.772A>G
n.440A>G
c.2171A>G (p.Glu724Gly)
c.2024A>G (p.Glu675Gly)
c.2032-2186A>G (n.2032-2186A>G)
c.2012A>G (p.Glu671Gly)
c.1991A>G (p.Glu664Gly)
c.2180A>G (p.Glu727Gly)
c.2099A>G (p.Glu700Gly)
c.2033A>G (p.Glu678Gly)
c.1913A>G (p.Glu638Gly)
c.1820A>G (p.Glu607Gly)
c.1556A>G (p.Glu519Gly)
c.2000A>G (p.Glu667Gly)
c.1925A>G (p.Glu642Gly)
 gnomAD v4
1g.92607588T>GCA341151823EVI5c.1952A>C (p.Glu651Ala)
c.1943A>C (p.Glu648Ala)
c.*1800A>C (n.*1800A>C)
c.1967A>C (p.Glu656Ala)
c.2048A>C (p.Glu683Ala)
n.310-3789A>C
c.755A>C (p.Glu252Ala)
c.1832A>C (p.Glu611Ala)
c.1919A>C (p.Glu640Ala)
n.772A>C
n.440A>C
c.2171A>C (p.Glu724Ala)
c.2024A>C (p.Glu675Ala)
c.2032-2186A>C (n.2032-2186A>C)
c.2012A>C (p.Glu671Ala)
c.1991A>C (p.Glu664Ala)
c.2180A>C (p.Glu727Ala)
c.2099A>C (p.Glu700Ala)
c.2033A>C (p.Glu678Ala)
c.1913A>C (p.Glu638Ala)
c.1820A>C (p.Glu607Ala)
c.1556A>C (p.Glu519Ala)
c.2000A>C (p.Glu667Ala)
c.1925A>C (p.Glu642Ala)
1g.92607589C>ACA341151832EVI5c.1951G>T (p.Glu651Ter)
c.1942G>T (p.Glu648Ter)
c.*1799G>T (n.*1799G>T)
c.1966G>T (p.Glu656Ter)
c.2047G>T (p.Glu683Ter)
n.310-3790G>T
c.754G>T (p.Glu252Ter)
c.1831G>T (p.Glu611Ter)
c.1918G>T (p.Glu640Ter)
n.771G>T
n.439G>T
c.2170G>T (p.Glu724Ter)
c.2023G>T (p.Glu675Ter)
c.2032-2187G>T (n.2032-2187G>T)
c.2011G>T (p.Glu671Ter)
c.1990G>T (p.Glu664Ter)
c.2179G>T (p.Glu727Ter)
c.2098G>T (p.Glu700Ter)
c.2032G>T (p.Glu678Ter)
c.1912G>T (p.Glu638Ter)
c.1819G>T (p.Glu607Ter)
c.1555G>T (p.Glu519Ter)
c.1999G>T (p.Glu667Ter)
c.1924G>T (p.Glu642Ter)
 gnomAD v4
1g.92607589C=CA1180836724EVI5c.1951G= (p.Glu651=)
c.1942G= (p.Glu648=)
c.*1799G= (n.*1799G=)
c.1966G= (p.Glu656=)
c.2047G= (p.Glu683=)
n.310-3790G=
c.754G= (p.Glu252=)
c.1831G= (p.Glu611=)
c.1918G= (p.Glu640=)
n.771G=
n.439G=
c.2170G= (p.Glu724=)
c.2023G= (p.Glu675=)
c.2032-2187G= (n.2032-2187G=)
c.2011G= (p.Glu671=)
c.1990G= (p.Glu664=)
c.2179G= (p.Glu727=)
c.2098G= (p.Glu700=)
c.2032G= (p.Glu678=)
c.1912G= (p.Glu638=)
c.1819G= (p.Glu607=)
c.1555G= (p.Glu519=)
c.1999G= (p.Glu667=)
c.1924G= (p.Glu642=)
1g.92607589C>GCA341151829EVI5c.1951G>C (p.Glu651Gln)
c.1942G>C (p.Glu648Gln)
c.*1799G>C (n.*1799G>C)
c.1966G>C (p.Glu656Gln)
c.2047G>C (p.Glu683Gln)
n.310-3790G>C
c.754G>C (p.Glu252Gln)
c.1831G>C (p.Glu611Gln)
c.1918G>C (p.Glu640Gln)
n.771G>C
n.439G>C
c.2170G>C (p.Glu724Gln)
c.2023G>C (p.Glu675Gln)
c.2032-2187G>C (n.2032-2187G>C)
c.2011G>C (p.Glu671Gln)
c.1990G>C (p.Glu664Gln)
c.2179G>C (p.Glu727Gln)
c.2098G>C (p.Glu700Gln)
c.2032G>C (p.Glu678Gln)
c.1912G>C (p.Glu638Gln)
c.1819G>C (p.Glu607Gln)
c.1555G>C (p.Glu519Gln)
c.1999G>C (p.Glu667Gln)
c.1924G>C (p.Glu642Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.92607589C>TCA341151831EVI5c.1951G>A (p.Glu651Lys)
c.1942G>A (p.Glu648Lys)
c.*1799G>A (n.*1799G>A)
c.1966G>A (p.Glu656Lys)
c.2047G>A (p.Glu683Lys)
n.310-3790G>A
c.754G>A (p.Glu252Lys)
c.1831G>A (p.Glu611Lys)
c.1918G>A (p.Glu640Lys)
n.771G>A
n.439G>A
c.2170G>A (p.Glu724Lys)
c.2023G>A (p.Glu675Lys)
c.2032-2187G>A (n.2032-2187G>A)
c.2011G>A (p.Glu671Lys)
c.1990G>A (p.Glu664Lys)
c.2179G>A (p.Glu727Lys)
c.2098G>A (p.Glu700Lys)
c.2032G>A (p.Glu678Lys)
c.1912G>A (p.Glu638Lys)
c.1819G>A (p.Glu607Lys)
c.1555G>A (p.Glu519Lys)
c.1999G>A (p.Glu667Lys)
c.1924G>A (p.Glu642Lys)
1g.92607590A>CCA341151833EVI5c.1950T>G (p.Ile650Met)
c.1941T>G (p.Ile647Met)
c.*1798T>G (n.*1798T>G)
c.1965T>G (p.Ile655Met)
c.2046T>G (p.Ile682Met)
n.310-3791T>G
c.753T>G (p.Ile251Met)
c.1830T>G (p.Ile610Met)
c.1917T>G (p.Ile639Met)
n.770T>G
n.438T>G
c.2169T>G (p.Ile723Met)
c.2022T>G (p.Ile674Met)
c.2032-2188T>G (n.2032-2188T>G)
c.2010T>G (p.Ile670Met)
c.1989T>G (p.Ile663Met)
c.2178T>G (p.Ile726Met)
c.2097T>G (p.Ile699Met)
c.2031T>G (p.Ile677Met)
c.1911T>G (p.Ile637Met)
c.1818T>G (p.Ile606Met)
c.1554T>G (p.Ile518Met)
c.1998T>G (p.Ile666Met)
c.1923T>G (p.Ile641Met)
1g.92607590A>GCA418958563EVI5c.1950T>C (p.Ile650=)
c.1941T>C (p.Ile647=)
c.*1798T>C (n.*1798T>C)
c.1965T>C (p.Ile655=)
c.2046T>C (p.Ile682=)
n.310-3791T>C
c.753T>C (p.Ile251=)
c.1830T>C (p.Ile610=)
c.1917T>C (p.Ile639=)
n.770T>C
n.438T>C
c.2169T>C (p.Ile723=)
c.2022T>C (p.Ile674=)
c.2032-2188T>C (n.2032-2188T>C)
c.2010T>C (p.Ile670=)
c.1989T>C (p.Ile663=)
c.2178T>C (p.Ile726=)
c.2097T>C (p.Ile699=)
c.2031T>C (p.Ile677=)
c.1911T>C (p.Ile637=)
c.1818T>C (p.Ile606=)
c.1554T>C (p.Ile518=)
c.1998T>C (p.Ile666=)
c.1923T>C (p.Ile641=)
1g.92607590A>TCA418958561EVI5c.1950T>A (p.Ile650=)
c.1941T>A (p.Ile647=)
c.*1798T>A (n.*1798T>A)
c.1965T>A (p.Ile655=)
c.2046T>A (p.Ile682=)
n.310-3791T>A
c.753T>A (p.Ile251=)
c.1830T>A (p.Ile610=)
c.1917T>A (p.Ile639=)
n.770T>A
n.438T>A
c.2169T>A (p.Ile723=)
c.2022T>A (p.Ile674=)
c.2032-2188T>A (n.2032-2188T>A)
c.2010T>A (p.Ile670=)
c.1989T>A (p.Ile663=)
c.2178T>A (p.Ile726=)
c.2097T>A (p.Ile699=)
c.2031T>A (p.Ile677=)
c.1911T>A (p.Ile637=)
c.1818T>A (p.Ile606=)
c.1554T>A (p.Ile518=)
c.1998T>A (p.Ile666=)
c.1923T>A (p.Ile641=)
 gnomAD v4
1g.92607591A>CCA341151834EVI5c.1949T>G (p.Ile650Ser)
c.1940T>G (p.Ile647Ser)
c.*1797T>G (n.*1797T>G)
c.1964T>G (p.Ile655Ser)
c.2045T>G (p.Ile682Ser)
n.310-3792T>G
c.752T>G (p.Ile251Ser)
c.1829T>G (p.Ile610Ser)
c.1916T>G (p.Ile639Ser)
n.769T>G
n.437T>G
c.2168T>G (p.Ile723Ser)
c.2021T>G (p.Ile674Ser)
c.2032-2189T>G (n.2032-2189T>G)
c.2009T>G (p.Ile670Ser)
c.1988T>G (p.Ile663Ser)
c.2177T>G (p.Ile726Ser)
c.2096T>G (p.Ile699Ser)
c.2030T>G (p.Ile677Ser)
c.1910T>G (p.Ile637Ser)
c.1817T>G (p.Ile606Ser)
c.1553T>G (p.Ile518Ser)
c.1997T>G (p.Ile666Ser)
c.1922T>G (p.Ile641Ser)
1g.92607591A>GCA341151837EVI5c.1949T>C (p.Ile650Thr)
c.1940T>C (p.Ile647Thr)
c.*1797T>C (n.*1797T>C)
c.1964T>C (p.Ile655Thr)
c.2045T>C (p.Ile682Thr)
n.310-3792T>C
c.752T>C (p.Ile251Thr)
c.1829T>C (p.Ile610Thr)
c.1916T>C (p.Ile639Thr)
n.769T>C
n.437T>C
c.2168T>C (p.Ile723Thr)
c.2021T>C (p.Ile674Thr)
c.2032-2189T>C (n.2032-2189T>C)
c.2009T>C (p.Ile670Thr)
c.1988T>C (p.Ile663Thr)
c.2177T>C (p.Ile726Thr)
c.2096T>C (p.Ile699Thr)
c.2030T>C (p.Ile677Thr)
c.1910T>C (p.Ile637Thr)
c.1817T>C (p.Ile606Thr)
c.1553T>C (p.Ile518Thr)
c.1997T>C (p.Ile666Thr)
c.1922T>C (p.Ile641Thr)
 gnomAD v4
1g.92607591A>TCA341151839EVI5c.1949T>A (p.Ile650Asn)
c.1940T>A (p.Ile647Asn)
c.*1797T>A (n.*1797T>A)
c.1964T>A (p.Ile655Asn)
c.2045T>A (p.Ile682Asn)
n.310-3792T>A
c.752T>A (p.Ile251Asn)
c.1829T>A (p.Ile610Asn)
c.1916T>A (p.Ile639Asn)
n.769T>A
n.437T>A
c.2168T>A (p.Ile723Asn)
c.2021T>A (p.Ile674Asn)
c.2032-2189T>A (n.2032-2189T>A)
c.2009T>A (p.Ile670Asn)
c.1988T>A (p.Ile663Asn)
c.2177T>A (p.Ile726Asn)
c.2096T>A (p.Ile699Asn)
c.2030T>A (p.Ile677Asn)
c.1910T>A (p.Ile637Asn)
c.1817T>A (p.Ile606Asn)
c.1553T>A (p.Ile518Asn)
c.1997T>A (p.Ile666Asn)
c.1922T>A (p.Ile641Asn)
1g.92607592T>ACA341151845EVI5c.1948A>T (p.Ile650Phe)
c.1939A>T (p.Ile647Phe)
c.*1796A>T (n.*1796A>T)
c.1963A>T (p.Ile655Phe)
c.2044A>T (p.Ile682Phe)
n.310-3793A>T
c.751A>T (p.Ile251Phe)
c.1828A>T (p.Ile610Phe)
c.1915A>T (p.Ile639Phe)
n.768A>T
n.436A>T
c.2167A>T (p.Ile723Phe)
c.2020A>T (p.Ile674Phe)
c.2032-2190A>T (n.2032-2190A>T)
c.2008A>T (p.Ile670Phe)
c.1987A>T (p.Ile663Phe)
c.2176A>T (p.Ile726Phe)
c.2095A>T (p.Ile699Phe)
c.2029A>T (p.Ile677Phe)
c.1909A>T (p.Ile637Phe)
c.1816A>T (p.Ile606Phe)
c.1552A>T (p.Ile518Phe)
c.1996A>T (p.Ile666Phe)
c.1921A>T (p.Ile641Phe)
1g.92607592T>CCA341151841EVI5c.1948A>G (p.Ile650Val)
c.1939A>G (p.Ile647Val)
c.*1796A>G (n.*1796A>G)
c.1963A>G (p.Ile655Val)
c.2044A>G (p.Ile682Val)
n.310-3793A>G
c.751A>G (p.Ile251Val)
c.1828A>G (p.Ile610Val)
c.1915A>G (p.Ile639Val)
n.768A>G
n.436A>G
c.2167A>G (p.Ile723Val)
c.2020A>G (p.Ile674Val)
c.2032-2190A>G (n.2032-2190A>G)
c.2008A>G (p.Ile670Val)
c.1987A>G (p.Ile663Val)
c.2176A>G (p.Ile726Val)
c.2095A>G (p.Ile699Val)
c.2029A>G (p.Ile677Val)
c.1909A>G (p.Ile637Val)
c.1816A>G (p.Ile606Val)
c.1552A>G (p.Ile518Val)
c.1996A>G (p.Ile666Val)
c.1921A>G (p.Ile641Val)
 dbSNP gnomAD v3 gnomAD v4
1g.92607592T>GCA341151843EVI5c.1948A>C (p.Ile650Leu)
c.1939A>C (p.Ile647Leu)
c.*1796A>C (n.*1796A>C)
c.1963A>C (p.Ile655Leu)
c.2044A>C (p.Ile682Leu)
n.310-3793A>C
c.751A>C (p.Ile251Leu)
c.1828A>C (p.Ile610Leu)
c.1915A>C (p.Ile639Leu)
n.768A>C
n.436A>C
c.2167A>C (p.Ile723Leu)
c.2020A>C (p.Ile674Leu)
c.2032-2190A>C (n.2032-2190A>C)
c.2008A>C (p.Ile670Leu)
c.1987A>C (p.Ile663Leu)
c.2176A>C (p.Ile726Leu)
c.2095A>C (p.Ile699Leu)
c.2029A>C (p.Ile677Leu)
c.1909A>C (p.Ile637Leu)
c.1816A>C (p.Ile606Leu)
c.1552A>C (p.Ile518Leu)
c.1996A>C (p.Ile666Leu)
c.1921A>C (p.Ile641Leu)
1g.92607592T=CA1180836725EVI5c.1948A= (p.Ile650=)
c.1939A= (p.Ile647=)
c.*1796A= (n.*1796A=)
c.1963A= (p.Ile655=)
c.2044A= (p.Ile682=)
n.310-3793A=
c.751A= (p.Ile251=)
c.1828A= (p.Ile610=)
c.1915A= (p.Ile639=)
n.768A=
n.436A=
c.2167A= (p.Ile723=)
c.2020A= (p.Ile674=)
c.2032-2190A= (n.2032-2190A=)
c.2008A= (p.Ile670=)
c.1987A= (p.Ile663=)
c.2176A= (p.Ile726=)
c.2095A= (p.Ile699=)
c.2029A= (p.Ile677=)
c.1909A= (p.Ile637=)
c.1816A= (p.Ile606=)
c.1552A= (p.Ile518=)
c.1996A= (p.Ile666=)
c.1921A= (p.Ile641=)
1g.92607593C>ACA341151847EVI5c.1947G>T (p.Glu649Asp)
c.1938G>T (p.Glu646Asp)
c.*1795G>T (n.*1795G>T)
c.1962G>T (p.Glu654Asp)
c.2043G>T (p.Glu681Asp)
n.310-3794G>T
c.750G>T (p.Glu250Asp)
c.1827G>T (p.Glu609Asp)
c.1914G>T (p.Glu638Asp)
n.767G>T
n.435G>T
c.2166G>T (p.Glu722Asp)
c.2019G>T (p.Glu673Asp)
c.2032-2191G>T (n.2032-2191G>T)
c.2007G>T (p.Glu669Asp)
c.1986G>T (p.Glu662Asp)
c.2175G>T (p.Glu725Asp)
c.2094G>T (p.Glu698Asp)
c.2028G>T (p.Glu676Asp)
c.1908G>T (p.Glu636Asp)
c.1815G>T (p.Glu605Asp)
c.1551G>T (p.Glu517Asp)
c.1995G>T (p.Glu665Asp)
c.1920G>T (p.Glu640Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.92607593C=CA1180836728EVI5c.1947G= (p.Glu649=)
c.1938G= (p.Glu646=)
c.*1795G= (n.*1795G=)
c.1962G= (p.Glu654=)
c.2043G= (p.Glu681=)
n.310-3794G=
c.750G= (p.Glu250=)
c.1827G= (p.Glu609=)
c.1914G= (p.Glu638=)
n.767G=
n.435G=
c.2166G= (p.Glu722=)
c.2019G= (p.Glu673=)
c.2032-2191G= (n.2032-2191G=)
c.2007G= (p.Glu669=)
c.1986G= (p.Glu662=)
c.2175G= (p.Glu725=)
c.2094G= (p.Glu698=)
c.2028G= (p.Glu676=)
c.1908G= (p.Glu636=)
c.1815G= (p.Glu605=)
c.1551G= (p.Glu517=)
c.1995G= (p.Glu665=)
c.1920G= (p.Glu640=)
1g.92607593C>GCA341151849EVI5c.1947G>C (p.Glu649Asp)
c.1938G>C (p.Glu646Asp)
c.*1795G>C (n.*1795G>C)
c.1962G>C (p.Glu654Asp)
c.2043G>C (p.Glu681Asp)
n.310-3794G>C
c.750G>C (p.Glu250Asp)
c.1827G>C (p.Glu609Asp)
c.1914G>C (p.Glu638Asp)
n.767G>C
n.435G>C
c.2166G>C (p.Glu722Asp)
c.2019G>C (p.Glu673Asp)
c.2032-2191G>C (n.2032-2191G>C)
c.2007G>C (p.Glu669Asp)
c.1986G>C (p.Glu662Asp)
c.2175G>C (p.Glu725Asp)
c.2094G>C (p.Glu698Asp)
c.2028G>C (p.Glu676Asp)
c.1908G>C (p.Glu636Asp)
c.1815G>C (p.Glu605Asp)
c.1551G>C (p.Glu517Asp)
c.1995G>C (p.Glu665Asp)
c.1920G>C (p.Glu640Asp)
1g.92607593C>TCA418958577EVI5c.1947G>A (p.Glu649=)
c.1938G>A (p.Glu646=)
c.*1795G>A (n.*1795G>A)
c.1962G>A (p.Glu654=)
c.2043G>A (p.Glu681=)
n.310-3794G>A
c.750G>A (p.Glu250=)
c.1827G>A (p.Glu609=)
c.1914G>A (p.Glu638=)
n.767G>A
n.435G>A
c.2166G>A (p.Glu722=)
c.2019G>A (p.Glu673=)
c.2032-2191G>A (n.2032-2191G>A)
c.2007G>A (p.Glu669=)
c.1986G>A (p.Glu662=)
c.2175G>A (p.Glu725=)
c.2094G>A (p.Glu698=)
c.2028G>A (p.Glu676=)
c.1908G>A (p.Glu636=)
c.1815G>A (p.Glu605=)
c.1551G>A (p.Glu517=)
c.1995G>A (p.Glu665=)
c.1920G>A (p.Glu640=)
1g.92607594T>ACA341151857EVI5c.1946A>T (p.Glu649Val)
c.1937A>T (p.Glu646Val)
c.*1794A>T (n.*1794A>T)
c.1961A>T (p.Glu654Val)
c.2042A>T (p.Glu681Val)
n.310-3795A>T
c.749A>T (p.Glu250Val)
c.1826A>T (p.Glu609Val)
c.1913A>T (p.Glu638Val)
n.766A>T
n.434A>T
c.2165A>T (p.Glu722Val)
c.2018A>T (p.Glu673Val)
c.2032-2192A>T (n.2032-2192A>T)
c.2006A>T (p.Glu669Val)
c.1985A>T (p.Glu662Val)
c.2174A>T (p.Glu725Val)
c.2093A>T (p.Glu698Val)
c.2027A>T (p.Glu676Val)
c.1907A>T (p.Glu636Val)
c.1814A>T (p.Glu605Val)
c.1550A>T (p.Glu517Val)
c.1994A>T (p.Glu665Val)
c.1919A>T (p.Glu640Val)
1g.92607594T>CCA341151860EVI5c.1946A>G (p.Glu649Gly)
c.1937A>G (p.Glu646Gly)
c.*1794A>G (n.*1794A>G)
c.1961A>G (p.Glu654Gly)
c.2042A>G (p.Glu681Gly)
n.310-3795A>G
c.749A>G (p.Glu250Gly)
c.1826A>G (p.Glu609Gly)
c.1913A>G (p.Glu638Gly)
n.766A>G
n.434A>G
c.2165A>G (p.Glu722Gly)
c.2018A>G (p.Glu673Gly)
c.2032-2192A>G (n.2032-2192A>G)
c.2006A>G (p.Glu669Gly)
c.1985A>G (p.Glu662Gly)
c.2174A>G (p.Glu725Gly)
c.2093A>G (p.Glu698Gly)
c.2027A>G (p.Glu676Gly)
c.1907A>G (p.Glu636Gly)
c.1814A>G (p.Glu605Gly)
c.1550A>G (p.Glu517Gly)
c.1994A>G (p.Glu665Gly)
c.1919A>G (p.Glu640Gly)
1g.92607594T>GCA341151863EVI5c.1946A>C (p.Glu649Ala)
c.1937A>C (p.Glu646Ala)
c.*1794A>C (n.*1794A>C)
c.1961A>C (p.Glu654Ala)
c.2042A>C (p.Glu681Ala)
n.310-3795A>C
c.749A>C (p.Glu250Ala)
c.1826A>C (p.Glu609Ala)
c.1913A>C (p.Glu638Ala)
n.766A>C
n.434A>C
c.2165A>C (p.Glu722Ala)
c.2018A>C (p.Glu673Ala)
c.2032-2192A>C (n.2032-2192A>C)
c.2006A>C (p.Glu669Ala)
c.1985A>C (p.Glu662Ala)
c.2174A>C (p.Glu725Ala)
c.2093A>C (p.Glu698Ala)
c.2027A>C (p.Glu676Ala)
c.1907A>C (p.Glu636Ala)
c.1814A>C (p.Glu605Ala)
c.1550A>C (p.Glu517Ala)
c.1994A>C (p.Glu665Ala)
c.1919A>C (p.Glu640Ala)
1g.92607595C>ACA341151864EVI5c.1945G>T (p.Glu649Ter)
c.1936G>T (p.Glu646Ter)
c.*1793G>T (n.*1793G>T)
c.1960G>T (p.Glu654Ter)
c.2041G>T (p.Glu681Ter)
n.310-3796G>T
c.748G>T (p.Glu250Ter)
c.1825G>T (p.Glu609Ter)
c.1912G>T (p.Glu638Ter)
n.765G>T
n.433G>T
c.2164G>T (p.Glu722Ter)
c.2017G>T (p.Glu673Ter)
c.2032-2193G>T (n.2032-2193G>T)
c.2005G>T (p.Glu669Ter)
c.1984G>T (p.Glu662Ter)
c.2173G>T (p.Glu725Ter)
c.2092G>T (p.Glu698Ter)
c.2026G>T (p.Glu676Ter)
c.1906G>T (p.Glu636Ter)
c.1813G>T (p.Glu605Ter)
c.1549G>T (p.Glu517Ter)
c.1993G>T (p.Glu665Ter)
c.1918G>T (p.Glu640Ter)
1g.92607595C>GCA341151866EVI5c.1945G>C (p.Glu649Gln)
c.1936G>C (p.Glu646Gln)
c.*1793G>C (n.*1793G>C)
c.1960G>C (p.Glu654Gln)
c.2041G>C (p.Glu681Gln)
n.310-3796G>C
c.748G>C (p.Glu250Gln)
c.1825G>C (p.Glu609Gln)
c.1912G>C (p.Glu638Gln)
n.765G>C
n.433G>C
c.2164G>C (p.Glu722Gln)
c.2017G>C (p.Glu673Gln)
c.2032-2193G>C (n.2032-2193G>C)
c.2005G>C (p.Glu669Gln)
c.1984G>C (p.Glu662Gln)
c.2173G>C (p.Glu725Gln)
c.2092G>C (p.Glu698Gln)
c.2026G>C (p.Glu676Gln)
c.1906G>C (p.Glu636Gln)
c.1813G>C (p.Glu605Gln)
c.1549G>C (p.Glu517Gln)
c.1993G>C (p.Glu665Gln)
c.1918G>C (p.Glu640Gln)
1g.92607595C>TCA341151865EVI5c.1945G>A (p.Glu649Lys)
c.1936G>A (p.Glu646Lys)
c.*1793G>A (n.*1793G>A)
c.1960G>A (p.Glu654Lys)
c.2041G>A (p.Glu681Lys)
n.310-3796G>A
c.748G>A (p.Glu250Lys)
c.1825G>A (p.Glu609Lys)
c.1912G>A (p.Glu638Lys)
n.765G>A
n.433G>A
c.2164G>A (p.Glu722Lys)
c.2017G>A (p.Glu673Lys)
c.2032-2193G>A (n.2032-2193G>A)
c.2005G>A (p.Glu669Lys)
c.1984G>A (p.Glu662Lys)
c.2173G>A (p.Glu725Lys)
c.2092G>A (p.Glu698Lys)
c.2026G>A (p.Glu676Lys)
c.1906G>A (p.Glu636Lys)
c.1813G>A (p.Glu605Lys)
c.1549G>A (p.Glu517Lys)
c.1993G>A (p.Glu665Lys)
c.1918G>A (p.Glu640Lys)
 gnomAD v4
1g.92607596T>ACA418958588EVI5c.1944A>T (p.Ala648=)
c.1935A>T (p.Ala645=)
c.*1792A>T (n.*1792A>T)
c.1959A>T (p.Ala653=)
c.2040A>T (p.Ala680=)
n.310-3797A>T
c.747A>T (p.Ala249=)
c.1824A>T (p.Ala608=)
c.1911A>T (p.Ala637=)
n.764A>T
n.432A>T
c.2163A>T (p.Ala721=)
c.2016A>T (p.Ala672=)
c.2032-2194A>T (n.2032-2194A>T)
c.2004A>T (p.Ala668=)
c.1983A>T (p.Ala661=)
c.2172A>T (p.Ala724=)
c.2091A>T (p.Ala697=)
c.2025A>T (p.Ala675=)
c.1905A>T (p.Ala635=)
c.1812A>T (p.Ala604=)
c.1548A>T (p.Ala516=)
c.1992A>T (p.Ala664=)
c.1917A>T (p.Ala639=)
1g.92607596T>CCA418958589EVI5c.1944A>G (p.Ala648=)
c.1935A>G (p.Ala645=)
c.*1792A>G (n.*1792A>G)
c.1959A>G (p.Ala653=)
c.2040A>G (p.Ala680=)
n.310-3797A>G
c.747A>G (p.Ala249=)
c.1824A>G (p.Ala608=)
c.1911A>G (p.Ala637=)
n.764A>G
n.432A>G
c.2163A>G (p.Ala721=)
c.2016A>G (p.Ala672=)
c.2032-2194A>G (n.2032-2194A>G)
c.2004A>G (p.Ala668=)
c.1983A>G (p.Ala661=)
c.2172A>G (p.Ala724=)
c.2091A>G (p.Ala697=)
c.2025A>G (p.Ala675=)
c.1905A>G (p.Ala635=)
c.1812A>G (p.Ala604=)
c.1548A>G (p.Ala516=)
c.1992A>G (p.Ala664=)
c.1917A>G (p.Ala639=)
1g.92607596T>GCA418958592EVI5c.1944A>C (p.Ala648=)
c.1935A>C (p.Ala645=)
c.*1792A>C (n.*1792A>C)
c.1959A>C (p.Ala653=)
c.2040A>C (p.Ala680=)
n.310-3797A>C
c.747A>C (p.Ala249=)
c.1824A>C (p.Ala608=)
c.1911A>C (p.Ala637=)
n.764A>C
n.432A>C
c.2163A>C (p.Ala721=)
c.2016A>C (p.Ala672=)
c.2032-2194A>C (n.2032-2194A>C)
c.2004A>C (p.Ala668=)
c.1983A>C (p.Ala661=)
c.2172A>C (p.Ala724=)
c.2091A>C (p.Ala697=)
c.2025A>C (p.Ala675=)
c.1905A>C (p.Ala635=)
c.1812A>C (p.Ala604=)
c.1548A>C (p.Ala516=)
c.1992A>C (p.Ala664=)
c.1917A>C (p.Ala639=)
1g.92607597G>ACA341151867EVI5c.1943C>T (p.Ala648Val)
c.1934C>T (p.Ala645Val)
c.*1791C>T (n.*1791C>T)
c.1958C>T (p.Ala653Val)
c.2039C>T (p.Ala680Val)
n.310-3798C>T
c.746C>T (p.Ala249Val)
c.1823C>T (p.Ala608Val)
c.1910C>T (p.Ala637Val)
n.763C>T
n.431C>T
c.2162C>T (p.Ala721Val)
c.2015C>T (p.Ala672Val)
c.2032-2195C>T (n.2032-2195C>T)
c.2003C>T (p.Ala668Val)
c.1982C>T (p.Ala661Val)
c.2171C>T (p.Ala724Val)
c.2090C>T (p.Ala697Val)
c.2024C>T (p.Ala675Val)
c.1904C>T (p.Ala635Val)
c.1811C>T (p.Ala604Val)
c.1547C>T (p.Ala516Val)
c.1991C>T (p.Ala664Val)
c.1916C>T (p.Ala639Val)
1g.92607597G>CCA341151870EVI5c.1943C>G (p.Ala648Gly)
c.1934C>G (p.Ala645Gly)
c.*1791C>G (n.*1791C>G)
c.1958C>G (p.Ala653Gly)
c.2039C>G (p.Ala680Gly)
n.310-3798C>G
c.746C>G (p.Ala249Gly)
c.1823C>G (p.Ala608Gly)
c.1910C>G (p.Ala637Gly)
n.763C>G
n.431C>G
c.2162C>G (p.Ala721Gly)
c.2015C>G (p.Ala672Gly)
c.2032-2195C>G (n.2032-2195C>G)
c.2003C>G (p.Ala668Gly)
c.1982C>G (p.Ala661Gly)
c.2171C>G (p.Ala724Gly)
c.2090C>G (p.Ala697Gly)
c.2024C>G (p.Ala675Gly)
c.1904C>G (p.Ala635Gly)
c.1811C>G (p.Ala604Gly)
c.1547C>G (p.Ala516Gly)
c.1991C>G (p.Ala664Gly)
c.1916C>G (p.Ala639Gly)
1g.92607597G>TCA341151871EVI5c.1943C>A (p.Ala648Glu)
c.1934C>A (p.Ala645Glu)
c.*1791C>A (n.*1791C>A)
c.1958C>A (p.Ala653Glu)
c.2039C>A (p.Ala680Glu)
n.310-3798C>A
c.746C>A (p.Ala249Glu)
c.1823C>A (p.Ala608Glu)
c.1910C>A (p.Ala637Glu)
n.763C>A
n.431C>A
c.2162C>A (p.Ala721Glu)
c.2015C>A (p.Ala672Glu)
c.2032-2195C>A (n.2032-2195C>A)
c.2003C>A (p.Ala668Glu)
c.1982C>A (p.Ala661Glu)
c.2171C>A (p.Ala724Glu)
c.2090C>A (p.Ala697Glu)
c.2024C>A (p.Ala675Glu)
c.1904C>A (p.Ala635Glu)
c.1811C>A (p.Ala604Glu)
c.1547C>A (p.Ala516Glu)
c.1991C>A (p.Ala664Glu)
c.1916C>A (p.Ala639Glu)
 gnomAD v4
1g.92607598C>ACA341151873EVI5c.1942G>T (p.Ala648Ser)
c.1933G>T (p.Ala645Ser)
c.*1790G>T (n.*1790G>T)
c.1957G>T (p.Ala653Ser)
c.2038G>T (p.Ala680Ser)
n.310-3799G>T
c.745G>T (p.Ala249Ser)
c.1822G>T (p.Ala608Ser)
c.1909G>T (p.Ala637Ser)
n.762G>T
n.430G>T
c.2161G>T (p.Ala721Ser)
c.2014G>T (p.Ala672Ser)
c.2032-2196G>T (n.2032-2196G>T)
c.2002G>T (p.Ala668Ser)
c.1981G>T (p.Ala661Ser)
c.2170G>T (p.Ala724Ser)
c.2089G>T (p.Ala697Ser)
c.2023G>T (p.Ala675Ser)
c.1903G>T (p.Ala635Ser)
c.1810G>T (p.Ala604Ser)
c.1546G>T (p.Ala516Ser)
c.1990G>T (p.Ala664Ser)
c.1915G>T (p.Ala639Ser)
 gnomAD v4
1g.92607598C>GCA341151875EVI5c.1942G>C (p.Ala648Pro)
c.1933G>C (p.Ala645Pro)
c.*1790G>C (n.*1790G>C)
c.1957G>C (p.Ala653Pro)
c.2038G>C (p.Ala680Pro)
n.310-3799G>C
c.745G>C (p.Ala249Pro)
c.1822G>C (p.Ala608Pro)
c.1909G>C (p.Ala637Pro)
n.762G>C
n.430G>C
c.2161G>C (p.Ala721Pro)
c.2014G>C (p.Ala672Pro)
c.2032-2196G>C (n.2032-2196G>C)
c.2002G>C (p.Ala668Pro)
c.1981G>C (p.Ala661Pro)
c.2170G>C (p.Ala724Pro)
c.2089G>C (p.Ala697Pro)
c.2023G>C (p.Ala675Pro)
c.1903G>C (p.Ala635Pro)
c.1810G>C (p.Ala604Pro)
c.1546G>C (p.Ala516Pro)
c.1990G>C (p.Ala664Pro)
c.1915G>C (p.Ala639Pro)
1g.92607598C>TCA341151877EVI5c.1942G>A (p.Ala648Thr)
c.1933G>A (p.Ala645Thr)
c.*1790G>A (n.*1790G>A)
c.1957G>A (p.Ala653Thr)
c.2038G>A (p.Ala680Thr)
n.310-3799G>A
c.745G>A (p.Ala249Thr)
c.1822G>A (p.Ala608Thr)
c.1909G>A (p.Ala637Thr)
n.762G>A
n.430G>A
c.2161G>A (p.Ala721Thr)
c.2014G>A (p.Ala672Thr)
c.2032-2196G>A (n.2032-2196G>A)
c.2002G>A (p.Ala668Thr)
c.1981G>A (p.Ala661Thr)
c.2170G>A (p.Ala724Thr)
c.2089G>A (p.Ala697Thr)
c.2023G>A (p.Ala675Thr)
c.1903G>A (p.Ala635Thr)
c.1810G>A (p.Ala604Thr)
c.1546G>A (p.Ala516Thr)
c.1990G>A (p.Ala664Thr)
c.1915G>A (p.Ala639Thr)
1g.92607599T>ACA341151879EVI5c.1941A>T (p.Gln647His)
c.1932A>T (p.Gln644His)
c.*1789A>T (n.*1789A>T)
c.1956A>T (p.Gln652His)
c.2037A>T (p.Gln679His)
n.310-3800A>T
c.744A>T (p.Gln248His)
c.1821A>T (p.Gln607His)
c.1908A>T (p.Gln636His)
n.761A>T
n.429A>T
c.2160A>T (p.Gln720His)
c.2013A>T (p.Gln671His)
c.2032-2197A>T (n.2032-2197A>T)
c.2001A>T (p.Gln667His)
c.1980A>T (p.Gln660His)
c.2169A>T (p.Gln723His)
c.2088A>T (p.Gln696His)
c.2022A>T (p.Gln674His)
c.1902A>T (p.Gln634His)
c.1809A>T (p.Gln603His)
c.1545A>T (p.Gln515His)
c.1989A>T (p.Gln663His)
c.1914A>T (p.Gln638His)
1g.92607599T>CCA418958604EVI5c.1941A>G (p.Gln647=)
c.1932A>G (p.Gln644=)
c.*1789A>G (n.*1789A>G)
c.1956A>G (p.Gln652=)
c.2037A>G (p.Gln679=)
n.310-3800A>G
c.744A>G (p.Gln248=)
c.1821A>G (p.Gln607=)
c.1908A>G (p.Gln636=)
n.761A>G
n.429A>G
c.2160A>G (p.Gln720=)
c.2013A>G (p.Gln671=)
c.2032-2197A>G (n.2032-2197A>G)
c.2001A>G (p.Gln667=)
c.1980A>G (p.Gln660=)
c.2169A>G (p.Gln723=)
c.2088A>G (p.Gln696=)
c.2022A>G (p.Gln674=)
c.1902A>G (p.Gln634=)
c.1809A>G (p.Gln603=)
c.1545A>G (p.Gln515=)
c.1989A>G (p.Gln663=)
c.1914A>G (p.Gln638=)
1g.92607599T>GCA341151881EVI5c.1941A>C (p.Gln647His)
c.1932A>C (p.Gln644His)
c.*1789A>C (n.*1789A>C)
c.1956A>C (p.Gln652His)
c.2037A>C (p.Gln679His)
n.310-3800A>C
c.744A>C (p.Gln248His)
c.1821A>C (p.Gln607His)
c.1908A>C (p.Gln636His)
n.761A>C
n.429A>C
c.2160A>C (p.Gln720His)
c.2013A>C (p.Gln671His)
c.2032-2197A>C (n.2032-2197A>C)
c.2001A>C (p.Gln667His)
c.1980A>C (p.Gln660His)
c.2169A>C (p.Gln723His)
c.2088A>C (p.Gln696His)
c.2022A>C (p.Gln674His)
c.1902A>C (p.Gln634His)
c.1809A>C (p.Gln603His)
c.1545A>C (p.Gln515His)
c.1989A>C (p.Gln663His)
c.1914A>C (p.Gln638His)
1g.92607600T>ACA341151883EVI5c.1940A>T (p.Gln647Leu)
c.1931A>T (p.Gln644Leu)
c.*1788A>T (n.*1788A>T)
c.1955A>T (p.Gln652Leu)
c.2036A>T (p.Gln679Leu)
n.310-3801A>T
c.743A>T (p.Gln248Leu)
c.1820A>T (p.Gln607Leu)
c.1907A>T (p.Gln636Leu)
n.760A>T
n.428A>T
c.2159A>T (p.Gln720Leu)
c.2012A>T (p.Gln671Leu)
c.2032-2198A>T (n.2032-2198A>T)
c.2000A>T (p.Gln667Leu)
c.1979A>T (p.Gln660Leu)
c.2168A>T (p.Gln723Leu)
c.2087A>T (p.Gln696Leu)
c.2021A>T (p.Gln674Leu)
c.1901A>T (p.Gln634Leu)
c.1808A>T (p.Gln603Leu)
c.1544A>T (p.Gln515Leu)
c.1988A>T (p.Gln663Leu)
c.1913A>T (p.Gln638Leu)
1g.92607600T>CCA341151884EVI5c.1940A>G (p.Gln647Arg)
c.1931A>G (p.Gln644Arg)
c.*1788A>G (n.*1788A>G)
c.1955A>G (p.Gln652Arg)
c.2036A>G (p.Gln679Arg)
n.310-3801A>G
c.743A>G (p.Gln248Arg)
c.1820A>G (p.Gln607Arg)
c.1907A>G (p.Gln636Arg)
n.760A>G
n.428A>G
c.2159A>G (p.Gln720Arg)
c.2012A>G (p.Gln671Arg)
c.2032-2198A>G (n.2032-2198A>G)
c.2000A>G (p.Gln667Arg)
c.1979A>G (p.Gln660Arg)
c.2168A>G (p.Gln723Arg)
c.2087A>G (p.Gln696Arg)
c.2021A>G (p.Gln674Arg)
c.1901A>G (p.Gln634Arg)
c.1808A>G (p.Gln603Arg)
c.1544A>G (p.Gln515Arg)
c.1988A>G (p.Gln663Arg)
c.1913A>G (p.Gln638Arg)
1g.92607600T>GCA341151885EVI5c.1940A>C (p.Gln647Pro)
c.1931A>C (p.Gln644Pro)
c.*1788A>C (n.*1788A>C)
c.1955A>C (p.Gln652Pro)
c.2036A>C (p.Gln679Pro)
n.310-3801A>C
c.743A>C (p.Gln248Pro)
c.1820A>C (p.Gln607Pro)
c.1907A>C (p.Gln636Pro)
n.760A>C
n.428A>C
c.2159A>C (p.Gln720Pro)
c.2012A>C (p.Gln671Pro)
c.2032-2198A>C (n.2032-2198A>C)
c.2000A>C (p.Gln667Pro)
c.1979A>C (p.Gln660Pro)
c.2168A>C (p.Gln723Pro)
c.2087A>C (p.Gln696Pro)
c.2021A>C (p.Gln674Pro)
c.1901A>C (p.Gln634Pro)
c.1808A>C (p.Gln603Pro)
c.1544A>C (p.Gln515Pro)
c.1988A>C (p.Gln663Pro)
c.1913A>C (p.Gln638Pro)
1g.92607601G>ACA951680EVI5c.1939C>T (p.Gln647Ter)
c.1930C>T (p.Gln644Ter)
c.*1787C>T (n.*1787C>T)
c.1954C>T (p.Gln652Ter)
c.2035C>T (p.Gln679Ter)
n.310-3802C>T
c.742C>T (p.Gln248Ter)
c.1819C>T (p.Gln607Ter)
c.1906C>T (p.Gln636Ter)
n.759C>T
n.427C>T
c.2158C>T (p.Gln720Ter)
c.2011C>T (p.Gln671Ter)
c.2032-2199C>T (n.2032-2199C>T)
c.1999C>T (p.Gln667Ter)
c.1978C>T (p.Gln660Ter)
c.2167C>T (p.Gln723Ter)
c.2086C>T (p.Gln696Ter)
c.2020C>T (p.Gln674Ter)
c.1900C>T (p.Gln634Ter)
c.1807C>T (p.Gln603Ter)
c.1543C>T (p.Gln515Ter)
c.1987C>T (p.Gln663Ter)
c.1912C>T (p.Gln638Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.92607601G>CCA341151888EVI5c.1939C>G (p.Gln647Glu)
c.1930C>G (p.Gln644Glu)
c.*1787C>G (n.*1787C>G)
c.1954C>G (p.Gln652Glu)
c.2035C>G (p.Gln679Glu)
n.310-3802C>G
c.742C>G (p.Gln248Glu)
c.1819C>G (p.Gln607Glu)
c.1906C>G (p.Gln636Glu)
n.759C>G
n.427C>G
c.2158C>G (p.Gln720Glu)
c.2011C>G (p.Gln671Glu)
c.2032-2199C>G (n.2032-2199C>G)
c.1999C>G (p.Gln667Glu)
c.1978C>G (p.Gln660Glu)
c.2167C>G (p.Gln723Glu)
c.2086C>G (p.Gln696Glu)
c.2020C>G (p.Gln674Glu)
c.1900C>G (p.Gln634Glu)
c.1807C>G (p.Gln603Glu)
c.1543C>G (p.Gln515Glu)
c.1987C>G (p.Gln663Glu)
c.1912C>G (p.Gln638Glu)
1g.92607601G=CA1143407446EVI5c.1939C= (p.Gln647=)
c.1930C= (p.Gln644=)
c.*1787C= (n.*1787C=)
c.1954C= (p.Gln652=)
c.2035C= (p.Gln679=)
n.310-3802C=
c.742C= (p.Gln248=)
c.1819C= (p.Gln607=)
c.1906C= (p.Gln636=)
n.759C=
n.427C=
c.2158C= (p.Gln720=)
c.2011C= (p.Gln671=)
c.2032-2199C= (n.2032-2199C=)
c.1999C= (p.Gln667=)
c.1978C= (p.Gln660=)
c.2167C= (p.Gln723=)
c.2086C= (p.Gln696=)
c.2020C= (p.Gln674=)
c.1900C= (p.Gln634=)
c.1807C= (p.Gln603=)
c.1543C= (p.Gln515=)
c.1987C= (p.Gln663=)
c.1912C= (p.Gln638=)
1g.92607601G>TCA341151886EVI5c.1939C>A (p.Gln647Lys)
c.1930C>A (p.Gln644Lys)
c.*1787C>A (n.*1787C>A)
c.1954C>A (p.Gln652Lys)
c.2035C>A (p.Gln679Lys)
n.310-3802C>A
c.742C>A (p.Gln248Lys)
c.1819C>A (p.Gln607Lys)
c.1906C>A (p.Gln636Lys)
n.759C>A
n.427C>A
c.2158C>A (p.Gln720Lys)
c.2011C>A (p.Gln671Lys)
c.2032-2199C>A (n.2032-2199C>A)
c.1999C>A (p.Gln667Lys)
c.1978C>A (p.Gln660Lys)
c.2167C>A (p.Gln723Lys)
c.2086C>A (p.Gln696Lys)
c.2020C>A (p.Gln674Lys)
c.1900C>A (p.Gln634Lys)
c.1807C>A (p.Gln603Lys)
c.1543C>A (p.Gln515Lys)
c.1987C>A (p.Gln663Lys)
c.1912C>A (p.Gln638Lys)
1g.92607602T>ACA341151893EVI5c.1938A>T (p.Lys646Asn)
c.1929A>T (p.Lys643Asn)
c.*1786A>T (n.*1786A>T)
c.1953A>T (p.Lys651Asn)
c.2034A>T (p.Lys678Asn)
n.310-3803A>T
c.741A>T (p.Lys247Asn)
c.1818A>T (p.Lys606Asn)
c.1905A>T (p.Lys635Asn)
n.758A>T
n.426A>T
c.2157A>T (p.Lys719Asn)
c.2010A>T (p.Lys670Asn)
c.2032-2200A>T (n.2032-2200A>T)
c.1998A>T (p.Lys666Asn)
c.1977A>T (p.Lys659Asn)
c.2166A>T (p.Lys722Asn)
c.2085A>T (p.Lys695Asn)
c.2019A>T (p.Lys673Asn)
c.1899A>T (p.Lys633Asn)
c.1806A>T (p.Lys602Asn)
c.1542A>T (p.Lys514Asn)
c.1986A>T (p.Lys662Asn)
c.1911A>T (p.Lys637Asn)
 gnomAD v4
1g.92607602T>CCA418958618EVI5c.1938A>G (p.Lys646=)
c.1929A>G (p.Lys643=)
c.*1786A>G (n.*1786A>G)
c.1953A>G (p.Lys651=)
c.2034A>G (p.Lys678=)
n.310-3803A>G
c.741A>G (p.Lys247=)
c.1818A>G (p.Lys606=)
c.1905A>G (p.Lys635=)
n.758A>G
n.426A>G
c.2157A>G (p.Lys719=)
c.2010A>G (p.Lys670=)
c.2032-2200A>G (n.2032-2200A>G)
c.1998A>G (p.Lys666=)
c.1977A>G (p.Lys659=)
c.2166A>G (p.Lys722=)
c.2085A>G (p.Lys695=)
c.2019A>G (p.Lys673=)
c.1899A>G (p.Lys633=)
c.1806A>G (p.Lys602=)
c.1542A>G (p.Lys514=)
c.1986A>G (p.Lys662=)
c.1911A>G (p.Lys637=)
1g.92607602T>GCA341151891EVI5c.1938A>C (p.Lys646Asn)
c.1929A>C (p.Lys643Asn)
c.*1786A>C (n.*1786A>C)
c.1953A>C (p.Lys651Asn)
c.2034A>C (p.Lys678Asn)
n.310-3803A>C
c.741A>C (p.Lys247Asn)
c.1818A>C (p.Lys606Asn)
c.1905A>C (p.Lys635Asn)
n.758A>C
n.426A>C
c.2157A>C (p.Lys719Asn)
c.2010A>C (p.Lys670Asn)
c.2032-2200A>C (n.2032-2200A>C)
c.1998A>C (p.Lys666Asn)
c.1977A>C (p.Lys659Asn)
c.2166A>C (p.Lys722Asn)
c.2085A>C (p.Lys695Asn)
c.2019A>C (p.Lys673Asn)
c.1899A>C (p.Lys633Asn)
c.1806A>C (p.Lys602Asn)
c.1542A>C (p.Lys514Asn)
c.1986A>C (p.Lys662Asn)
c.1911A>C (p.Lys637Asn)
1g.92607603T>ACA341151895EVI5c.1937A>T (p.Lys646Ile)
c.1928A>T (p.Lys643Ile)
c.*1785A>T (n.*1785A>T)
c.1952A>T (p.Lys651Ile)
c.2033A>T (p.Lys678Ile)
n.310-3804A>T
c.740A>T (p.Lys247Ile)
c.1817A>T (p.Lys606Ile)
c.1904A>T (p.Lys635Ile)
n.757A>T
n.425A>T
c.2156A>T (p.Lys719Ile)
c.2009A>T (p.Lys670Ile)
c.2032-2201A>T (n.2032-2201A>T)
c.1997A>T (p.Lys666Ile)
c.1976A>T (p.Lys659Ile)
c.2165A>T (p.Lys722Ile)
c.2084A>T (p.Lys695Ile)
c.2018A>T (p.Lys673Ile)
c.1898A>T (p.Lys633Ile)
c.1805A>T (p.Lys602Ile)
c.1541A>T (p.Lys514Ile)
c.1985A>T (p.Lys662Ile)
c.1910A>T (p.Lys637Ile)
1g.92607603T>CCA341151897EVI5c.1937A>G (p.Lys646Arg)
c.1928A>G (p.Lys643Arg)
c.*1785A>G (n.*1785A>G)
c.1952A>G (p.Lys651Arg)
c.2033A>G (p.Lys678Arg)
n.310-3804A>G
c.740A>G (p.Lys247Arg)
c.1817A>G (p.Lys606Arg)
c.1904A>G (p.Lys635Arg)
n.757A>G
n.425A>G
c.2156A>G (p.Lys719Arg)
c.2009A>G (p.Lys670Arg)
c.2032-2201A>G (n.2032-2201A>G)
c.1997A>G (p.Lys666Arg)
c.1976A>G (p.Lys659Arg)
c.2165A>G (p.Lys722Arg)
c.2084A>G (p.Lys695Arg)
c.2018A>G (p.Lys673Arg)
c.1898A>G (p.Lys633Arg)
c.1805A>G (p.Lys602Arg)
c.1541A>G (p.Lys514Arg)
c.1985A>G (p.Lys662Arg)
c.1910A>G (p.Lys637Arg)
1g.92607603T>GCA341151898EVI5c.1937A>C (p.Lys646Thr)
c.1928A>C (p.Lys643Thr)
c.*1785A>C (n.*1785A>C)
c.1952A>C (p.Lys651Thr)
c.2033A>C (p.Lys678Thr)
n.310-3804A>C
c.740A>C (p.Lys247Thr)
c.1817A>C (p.Lys606Thr)
c.1904A>C (p.Lys635Thr)
n.757A>C
n.425A>C
c.2156A>C (p.Lys719Thr)
c.2009A>C (p.Lys670Thr)
c.2032-2201A>C (n.2032-2201A>C)
c.1997A>C (p.Lys666Thr)
c.1976A>C (p.Lys659Thr)
c.2165A>C (p.Lys722Thr)
c.2084A>C (p.Lys695Thr)
c.2018A>C (p.Lys673Thr)
c.1898A>C (p.Lys633Thr)
c.1805A>C (p.Lys602Thr)
c.1541A>C (p.Lys514Thr)
c.1985A>C (p.Lys662Thr)
c.1910A>C (p.Lys637Thr)
1g.92607604T>ACA341151900EVI5c.1936A>T (p.Lys646Ter)
c.1927A>T (p.Lys643Ter)
c.*1784A>T (n.*1784A>T)
c.1951A>T (p.Lys651Ter)
c.2032A>T (p.Lys678Ter)
n.310-3805A>T
c.739A>T (p.Lys247Ter)
c.1816A>T (p.Lys606Ter)
c.1903A>T (p.Lys635Ter)
n.756A>T
n.424A>T
c.2155A>T (p.Lys719Ter)
c.2008A>T (p.Lys670Ter)
c.2032-2202A>T (n.2032-2202A>T)
c.1996A>T (p.Lys666Ter)
c.1975A>T (p.Lys659Ter)
c.2164A>T (p.Lys722Ter)
c.2083A>T (p.Lys695Ter)
c.2017A>T (p.Lys673Ter)
c.1897A>T (p.Lys633Ter)
c.1804A>T (p.Lys602Ter)
c.1540A>T (p.Lys514Ter)
c.1984A>T (p.Lys662Ter)
c.1909A>T (p.Lys637Ter)
1g.92607604T>CCA951681EVI5c.1936A>G (p.Lys646Glu)
c.1927A>G (p.Lys643Glu)
c.*1784A>G (n.*1784A>G)
c.1951A>G (p.Lys651Glu)
c.2032A>G (p.Lys678Glu)
n.310-3805A>G
c.739A>G (p.Lys247Glu)
c.1816A>G (p.Lys606Glu)
c.1903A>G (p.Lys635Glu)
n.756A>G
n.424A>G
c.2155A>G (p.Lys719Glu)
c.2008A>G (p.Lys670Glu)
c.2032-2202A>G (n.2032-2202A>G)
c.1996A>G (p.Lys666Glu)
c.1975A>G (p.Lys659Glu)
c.2164A>G (p.Lys722Glu)
c.2083A>G (p.Lys695Glu)
c.2017A>G (p.Lys673Glu)
c.1897A>G (p.Lys633Glu)
c.1804A>G (p.Lys602Glu)
c.1540A>G (p.Lys514Glu)
c.1984A>G (p.Lys662Glu)
c.1909A>G (p.Lys637Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.92607604T>GCA341151901EVI5c.1936A>C (p.Lys646Gln)
c.1927A>C (p.Lys643Gln)
c.*1784A>C (n.*1784A>C)
c.1951A>C (p.Lys651Gln)
c.2032A>C (p.Lys678Gln)
n.310-3805A>C
c.739A>C (p.Lys247Gln)
c.1816A>C (p.Lys606Gln)
c.1903A>C (p.Lys635Gln)
n.756A>C
n.424A>C
c.2155A>C (p.Lys719Gln)
c.2008A>C (p.Lys670Gln)
c.2032-2202A>C (n.2032-2202A>C)
c.1996A>C (p.Lys666Gln)
c.1975A>C (p.Lys659Gln)
c.2164A>C (p.Lys722Gln)
c.2083A>C (p.Lys695Gln)
c.2017A>C (p.Lys673Gln)
c.1897A>C (p.Lys633Gln)
c.1804A>C (p.Lys602Gln)
c.1540A>C (p.Lys514Gln)
c.1984A>C (p.Lys662Gln)
c.1909A>C (p.Lys637Gln)
1g.92607604T=CA1143439619EVI5c.1936A= (p.Lys646=)
c.1927A= (p.Lys643=)
c.*1784A= (n.*1784A=)
c.1951A= (p.Lys651=)
c.2032A= (p.Lys678=)
n.310-3805A=
c.739A= (p.Lys247=)
c.1816A= (p.Lys606=)
c.1903A= (p.Lys635=)
n.756A=
n.424A=
c.2155A= (p.Lys719=)
c.2008A= (p.Lys670=)
c.2032-2202A= (n.2032-2202A=)
c.1996A= (p.Lys666=)
c.1975A= (p.Lys659=)
c.2164A= (p.Lys722=)
c.2083A= (p.Lys695=)
c.2017A= (p.Lys673=)
c.1897A= (p.Lys633=)
c.1804A= (p.Lys602=)
c.1540A= (p.Lys514=)
c.1984A= (p.Lys662=)
c.1909A= (p.Lys637=)
1g.92607605A>CCA418958627EVI5c.1935T>G (p.Arg645=)
c.1926T>G (p.Arg642=)
c.*1783T>G (n.*1783T>G)
c.1950T>G (p.Arg650=)
c.2031T>G (p.Arg677=)
n.310-3806T>G
c.738T>G (p.Arg246=)
c.1815T>G (p.Arg605=)
c.1902T>G (p.Arg634=)
n.755T>G
n.423T>G
c.2154T>G (p.Arg718=)
c.2007T>G (p.Arg669=)
c.2032-2203T>G (n.2032-2203T>G)
c.1995T>G (p.Arg665=)
c.1974T>G (p.Arg658=)
c.2163T>G (p.Arg721=)
c.2082T>G (p.Arg694=)
c.2016T>G (p.Arg672=)
c.1896T>G (p.Arg632=)
c.1803T>G (p.Arg601=)
c.1539T>G (p.Arg513=)
c.1983T>G (p.Arg661=)
c.1908T>G (p.Arg636=)
1g.92607605A>GCA418958629EVI5c.1935T>C (p.Arg645=)
c.1926T>C (p.Arg642=)
c.*1783T>C (n.*1783T>C)
c.1950T>C (p.Arg650=)
c.2031T>C (p.Arg677=)
n.310-3806T>C
c.738T>C (p.Arg246=)
c.1815T>C (p.Arg605=)
c.1902T>C (p.Arg634=)
n.755T>C
n.423T>C
c.2154T>C (p.Arg718=)
c.2007T>C (p.Arg669=)
c.2032-2203T>C (n.2032-2203T>C)
c.1995T>C (p.Arg665=)
c.1974T>C (p.Arg658=)
c.2163T>C (p.Arg721=)
c.2082T>C (p.Arg694=)
c.2016T>C (p.Arg672=)
c.1896T>C (p.Arg632=)
c.1803T>C (p.Arg601=)
c.1539T>C (p.Arg513=)
c.1983T>C (p.Arg661=)
c.1908T>C (p.Arg636=)
1g.92607605A>TCA418958631EVI5c.1935T>A (p.Arg645=)
c.1926T>A (p.Arg642=)
c.*1783T>A (n.*1783T>A)
c.1950T>A (p.Arg650=)
c.2031T>A (p.Arg677=)
n.310-3806T>A
c.738T>A (p.Arg246=)
c.1815T>A (p.Arg605=)
c.1902T>A (p.Arg634=)
n.755T>A
n.423T>A
c.2154T>A (p.Arg718=)
c.2007T>A (p.Arg669=)
c.2032-2203T>A (n.2032-2203T>A)
c.1995T>A (p.Arg665=)
c.1974T>A (p.Arg658=)
c.2163T>A (p.Arg721=)
c.2082T>A (p.Arg694=)
c.2016T>A (p.Arg672=)
c.1896T>A (p.Arg632=)
c.1803T>A (p.Arg601=)
c.1539T>A (p.Arg513=)
c.1983T>A (p.Arg661=)
c.1908T>A (p.Arg636=)
1g.92607607_92607618delCA645533773EVI5c.1924_1935del (p.Glu642_Arg645del)
c.1915_1926del (p.Glu639_Arg642del)
c.*1772_*1783del (n.*1772_*1783del)
c.1939_1950del (p.Glu647_Arg650del)
c.2020_2031del (p.Glu674_Arg677del)
n.310-3817_310-3806del
c.727_738del (p.Glu243_Arg246del)
c.1804_1815del (p.Glu602_Arg605del)
c.1891_1902del (p.Glu631_Arg634del)
n.744_755del
n.412_423del
c.2143_2154del (p.Glu715_Arg718del)
c.1996_2007del (p.Glu666_Arg669del)
c.2032-2214_2032-2203del (n.2032-2214_2032-2203del)
c.1984_1995del (p.Glu662_Arg665del)
c.1963_1974del (p.Glu655_Arg658del)
c.2152_2163del (p.Glu718_Arg721del)
c.2071_2082del (p.Glu691_Arg694del)
c.2005_2016del (p.Glu669_Arg672del)
c.1885_1896del (p.Glu629_Arg632del)
c.1792_1803del (p.Glu598_Arg601del)
c.1528_1539del (p.Glu510_Arg513del)
c.1972_1983del (p.Glu658_Arg661del)
c.1897_1908del (p.Glu633_Arg636del)
 COSMIC COSMIC
1g.92607606C>ACA341151903EVI5c.1934G>T (p.Arg645Leu)
c.1925G>T (p.Arg642Leu)
c.*1782G>T (n.*1782G>T)
c.1949G>T (p.Arg650Leu)
c.2030G>T (p.Arg677Leu)
n.310-3807G>T
c.737G>T (p.Arg246Leu)
c.1814G>T (p.Arg605Leu)
c.1901G>T (p.Arg634Leu)
n.754G>T
n.422G>T
c.2153G>T (p.Arg718Leu)
c.2006G>T (p.Arg669Leu)
c.2032-2204G>T (n.2032-2204G>T)
c.1994G>T (p.Arg665Leu)
c.1973G>T (p.Arg658Leu)
c.2162G>T (p.Arg721Leu)
c.2081G>T (p.Arg694Leu)
c.2015G>T (p.Arg672Leu)
c.1895G>T (p.Arg632Leu)
c.1802G>T (p.Arg601Leu)
c.1538G>T (p.Arg513Leu)
c.1982G>T (p.Arg661Leu)
c.1907G>T (p.Arg636Leu)
1g.92607606C=CA1180836730EVI5c.1934G= (p.Arg645=)
c.1925G= (p.Arg642=)
c.*1782G= (n.*1782G=)
c.1949G= (p.Arg650=)
c.2030G= (p.Arg677=)
n.310-3807G=
c.737G= (p.Arg246=)
c.1814G= (p.Arg605=)
c.1901G= (p.Arg634=)
n.754G=
n.422G=
c.2153G= (p.Arg718=)
c.2006G= (p.Arg669=)
c.2032-2204G= (n.2032-2204G=)
c.1994G= (p.Arg665=)
c.1973G= (p.Arg658=)
c.2162G= (p.Arg721=)
c.2081G= (p.Arg694=)
c.2015G= (p.Arg672=)
c.1895G= (p.Arg632=)
c.1802G= (p.Arg601=)
c.1538G= (p.Arg513=)
c.1982G= (p.Arg661=)
c.1907G= (p.Arg636=)
1g.92607606C>GCA341151905EVI5c.1934G>C (p.Arg645Pro)
c.1925G>C (p.Arg642Pro)
c.*1782G>C (n.*1782G>C)
c.1949G>C (p.Arg650Pro)
c.2030G>C (p.Arg677Pro)
n.310-3807G>C
c.737G>C (p.Arg246Pro)
c.1814G>C (p.Arg605Pro)
c.1901G>C (p.Arg634Pro)
n.754G>C
n.422G>C
c.2153G>C (p.Arg718Pro)
c.2006G>C (p.Arg669Pro)
c.2032-2204G>C (n.2032-2204G>C)
c.1994G>C (p.Arg665Pro)
c.1973G>C (p.Arg658Pro)
c.2162G>C (p.Arg721Pro)
c.2081G>C (p.Arg694Pro)
c.2015G>C (p.Arg672Pro)
c.1895G>C (p.Arg632Pro)
c.1802G>C (p.Arg601Pro)
c.1538G>C (p.Arg513Pro)
c.1982G>C (p.Arg661Pro)
c.1907G>C (p.Arg636Pro)
1g.92607606C>TCA951682EVI5c.1934G>A (p.Arg645His)
c.1925G>A (p.Arg642His)
c.*1782G>A (n.*1782G>A)
c.1949G>A (p.Arg650His)
c.2030G>A (p.Arg677His)
n.310-3807G>A
c.737G>A (p.Arg246His)
c.1814G>A (p.Arg605His)
c.1901G>A (p.Arg634His)
n.754G>A
n.422G>A
c.2153G>A (p.Arg718His)
c.2006G>A (p.Arg669His)
c.2032-2204G>A (n.2032-2204G>A)
c.1994G>A (p.Arg665His)
c.1973G>A (p.Arg658His)
c.2162G>A (p.Arg721His)
c.2081G>A (p.Arg694His)
c.2015G>A (p.Arg672His)
c.1895G>A (p.Arg632His)
c.1802G>A (p.Arg601His)
c.1538G>A (p.Arg513His)
c.1982G>A (p.Arg661His)
c.1907G>A (p.Arg636His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.92607607G>ACA341151908EVI5c.1933C>T (p.Arg645Cys)
c.1924C>T (p.Arg642Cys)
c.*1781C>T (n.*1781C>T)
c.1948C>T (p.Arg650Cys)
c.2029C>T (p.Arg677Cys)
n.310-3808C>T
c.736C>T (p.Arg246Cys)
c.1813C>T (p.Arg605Cys)
c.1900C>T (p.Arg634Cys)
n.753C>T
n.421C>T
c.2152C>T (p.Arg718Cys)
c.2005C>T (p.Arg669Cys)
c.2032-2205C>T (n.2032-2205C>T)
c.1993C>T (p.Arg665Cys)
c.1972C>T (p.Arg658Cys)
c.2161C>T (p.Arg721Cys)
c.2080C>T (p.Arg694Cys)
c.2014C>T (p.Arg672Cys)
c.1894C>T (p.Arg632Cys)
c.1801C>T (p.Arg601Cys)
c.1537C>T (p.Arg513Cys)
c.1981C>T (p.Arg661Cys)
c.1906C>T (p.Arg636Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.92607607G>CCA341151909EVI5c.1933C>G (p.Arg645Gly)
c.1924C>G (p.Arg642Gly)
c.*1781C>G (n.*1781C>G)
c.1948C>G (p.Arg650Gly)
c.2029C>G (p.Arg677Gly)
n.310-3808C>G
c.736C>G (p.Arg246Gly)
c.1813C>G (p.Arg605Gly)
c.1900C>G (p.Arg634Gly)
n.753C>G
n.421C>G
c.2152C>G (p.Arg718Gly)
c.2005C>G (p.Arg669Gly)
c.2032-2205C>G (n.2032-2205C>G)
c.1993C>G (p.Arg665Gly)
c.1972C>G (p.Arg658Gly)
c.2161C>G (p.Arg721Gly)
c.2080C>G (p.Arg694Gly)
c.2014C>G (p.Arg672Gly)
c.1894C>G (p.Arg632Gly)
c.1801C>G (p.Arg601Gly)
c.1537C>G (p.Arg513Gly)
c.1981C>G (p.Arg661Gly)
c.1906C>G (p.Arg636Gly)
1g.92607607G=CA1180836734EVI5c.1933C= (p.Arg645=)
c.1924C= (p.Arg642=)
c.*1781C= (n.*1781C=)
c.1948C= (p.Arg650=)
c.2029C= (p.Arg677=)
n.310-3808C=
c.736C= (p.Arg246=)
c.1813C= (p.Arg605=)
c.1900C= (p.Arg634=)
n.753C=
n.421C=
c.2152C= (p.Arg718=)
c.2005C= (p.Arg669=)
c.2032-2205C= (n.2032-2205C=)
c.1993C= (p.Arg665=)
c.1972C= (p.Arg658=)
c.2161C= (p.Arg721=)
c.2080C= (p.Arg694=)
c.2014C= (p.Arg672=)
c.1894C= (p.Arg632=)
c.1801C= (p.Arg601=)
c.1537C= (p.Arg513=)
c.1981C= (p.Arg661=)
c.1906C= (p.Arg636=)
1g.92607607G>TCA341151911EVI5c.1933C>A (p.Arg645Ser)
c.1924C>A (p.Arg642Ser)
c.*1781C>A (n.*1781C>A)
c.1948C>A (p.Arg650Ser)
c.2029C>A (p.Arg677Ser)
n.310-3808C>A
c.736C>A (p.Arg246Ser)
c.1813C>A (p.Arg605Ser)
c.1900C>A (p.Arg634Ser)
n.753C>A
n.421C>A
c.2152C>A (p.Arg718Ser)
c.2005C>A (p.Arg669Ser)
c.2032-2205C>A (n.2032-2205C>A)
c.1993C>A (p.Arg665Ser)
c.1972C>A (p.Arg658Ser)
c.2161C>A (p.Arg721Ser)
c.2080C>A (p.Arg694Ser)
c.2014C>A (p.Arg672Ser)
c.1894C>A (p.Arg632Ser)
c.1801C>A (p.Arg601Ser)
c.1537C>A (p.Arg513Ser)
c.1981C>A (p.Arg661Ser)
c.1906C>A (p.Arg636Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.92607608C>ACA341151914EVI5c.1932G>T (p.Lys644Asn)
c.1923G>T (p.Lys641Asn)
c.*1780G>T (n.*1780G>T)
c.1947G>T (p.Lys649Asn)
c.2028G>T (p.Lys676Asn)
n.310-3809G>T
c.735G>T (p.Lys245Asn)
c.1812G>T (p.Lys604Asn)
c.1899G>T (p.Lys633Asn)
n.752G>T
n.420G>T
c.2151G>T (p.Lys717Asn)
c.2004G>T (p.Lys668Asn)
c.2032-2206G>T (n.2032-2206G>T)
c.1992G>T (p.Lys664Asn)
c.1971G>T (p.Lys657Asn)
c.2160G>T (p.Lys720Asn)
c.2079G>T (p.Lys693Asn)
c.2013G>T (p.Lys671Asn)
c.1893G>T (p.Lys631Asn)
c.1800G>T (p.Lys600Asn)
c.1536G>T (p.Lys512Asn)
c.1980G>T (p.Lys660Asn)
c.1905G>T (p.Lys635Asn)
1g.92607608C=CA1180836740EVI5c.1932G= (p.Lys644=)
c.1923G= (p.Lys641=)
c.*1780G= (n.*1780G=)
c.1947G= (p.Lys649=)
c.2028G= (p.Lys676=)
n.310-3809G=
c.735G= (p.Lys245=)
c.1812G= (p.Lys604=)
c.1899G= (p.Lys633=)
n.752G=
n.420G=
c.2151G= (p.Lys717=)
c.2004G= (p.Lys668=)
c.2032-2206G= (n.2032-2206G=)
c.1992G= (p.Lys664=)
c.1971G= (p.Lys657=)
c.2160G= (p.Lys720=)
c.2079G= (p.Lys693=)
c.2013G= (p.Lys671=)
c.1893G= (p.Lys631=)
c.1800G= (p.Lys600=)
c.1536G= (p.Lys512=)
c.1980G= (p.Lys660=)
c.1905G= (p.Lys635=)
1g.92607608C>GCA341151913EVI5c.1932G>C (p.Lys644Asn)
c.1923G>C (p.Lys641Asn)
c.*1780G>C (n.*1780G>C)
c.1947G>C (p.Lys649Asn)
c.2028G>C (p.Lys676Asn)
n.310-3809G>C
c.735G>C (p.Lys245Asn)
c.1812G>C (p.Lys604Asn)
c.1899G>C (p.Lys633Asn)
n.752G>C
n.420G>C
c.2151G>C (p.Lys717Asn)
c.2004G>C (p.Lys668Asn)
c.2032-2206G>C (n.2032-2206G>C)
c.1992G>C (p.Lys664Asn)
c.1971G>C (p.Lys657Asn)
c.2160G>C (p.Lys720Asn)
c.2079G>C (p.Lys693Asn)
c.2013G>C (p.Lys671Asn)
c.1893G>C (p.Lys631Asn)
c.1800G>C (p.Lys600Asn)
c.1536G>C (p.Lys512Asn)
c.1980G>C (p.Lys660Asn)
c.1905G>C (p.Lys635Asn)
1g.92607608C>TCA418958650EVI5c.1932G>A (p.Lys644=)
c.1923G>A (p.Lys641=)
c.*1780G>A (n.*1780G>A)
c.1947G>A (p.Lys649=)
c.2028G>A (p.Lys676=)
n.310-3809G>A
c.735G>A (p.Lys245=)
c.1812G>A (p.Lys604=)
c.1899G>A (p.Lys633=)
n.752G>A
n.420G>A
c.2151G>A (p.Lys717=)
c.2004G>A (p.Lys668=)
c.2032-2206G>A (n.2032-2206G>A)
c.1992G>A (p.Lys664=)
c.1971G>A (p.Lys657=)
c.2160G>A (p.Lys720=)
c.2079G>A (p.Lys693=)
c.2013G>A (p.Lys671=)
c.1893G>A (p.Lys631=)
c.1800G>A (p.Lys600=)
c.1536G>A (p.Lys512=)
c.1980G>A (p.Lys660=)
c.1905G>A (p.Lys635=)
 dbSNP gnomAD v4
1g.92607609T>ACA341151916EVI5c.1931A>T (p.Lys644Met)
c.1922A>T (p.Lys641Met)
c.*1779A>T (n.*1779A>T)
c.1946A>T (p.Lys649Met)
c.2027A>T (p.Lys676Met)
n.310-3810A>T
c.734A>T (p.Lys245Met)
c.1811A>T (p.Lys604Met)
c.1898A>T (p.Lys633Met)
n.751A>T
n.419A>T
c.2150A>T (p.Lys717Met)
c.2003A>T (p.Lys668Met)
c.2032-2207A>T (n.2032-2207A>T)
c.1991A>T (p.Lys664Met)
c.1970A>T (p.Lys657Met)
c.2159A>T (p.Lys720Met)
c.2078A>T (p.Lys693Met)
c.2012A>T (p.Lys671Met)
c.1892A>T (p.Lys631Met)
c.1799A>T (p.Lys600Met)
c.1535A>T (p.Lys512Met)
c.1979A>T (p.Lys660Met)
c.1904A>T (p.Lys635Met)
1g.92607609T>CCA341151918EVI5c.1931A>G (p.Lys644Arg)
c.1922A>G (p.Lys641Arg)
c.*1779A>G (n.*1779A>G)
c.1946A>G (p.Lys649Arg)
c.2027A>G (p.Lys676Arg)
n.310-3810A>G
c.734A>G (p.Lys245Arg)
c.1811A>G (p.Lys604Arg)
c.1898A>G (p.Lys633Arg)
n.751A>G
n.419A>G
c.2150A>G (p.Lys717Arg)
c.2003A>G (p.Lys668Arg)
c.2032-2207A>G (n.2032-2207A>G)
c.1991A>G (p.Lys664Arg)
c.1970A>G (p.Lys657Arg)
c.2159A>G (p.Lys720Arg)
c.2078A>G (p.Lys693Arg)
c.2012A>G (p.Lys671Arg)
c.1892A>G (p.Lys631Arg)
c.1799A>G (p.Lys600Arg)
c.1535A>G (p.Lys512Arg)
c.1979A>G (p.Lys660Arg)
c.1904A>G (p.Lys635Arg)
1g.92607609T>GCA341151919EVI5c.1931A>C (p.Lys644Thr)
c.1922A>C (p.Lys641Thr)
c.*1779A>C (n.*1779A>C)
c.1946A>C (p.Lys649Thr)
c.2027A>C (p.Lys676Thr)
n.310-3810A>C
c.734A>C (p.Lys245Thr)
c.1811A>C (p.Lys604Thr)
c.1898A>C (p.Lys633Thr)
n.751A>C
n.419A>C
c.2150A>C (p.Lys717Thr)
c.2003A>C (p.Lys668Thr)
c.2032-2207A>C (n.2032-2207A>C)
c.1991A>C (p.Lys664Thr)
c.1970A>C (p.Lys657Thr)
c.2159A>C (p.Lys720Thr)
c.2078A>C (p.Lys693Thr)
c.2012A>C (p.Lys671Thr)
c.1892A>C (p.Lys631Thr)
c.1799A>C (p.Lys600Thr)
c.1535A>C (p.Lys512Thr)
c.1979A>C (p.Lys660Thr)
c.1904A>C (p.Lys635Thr)
1g.92607610T>ACA341151920EVI5c.1930A>T (p.Lys644Ter)
c.1921A>T (p.Lys641Ter)
c.*1778A>T (n.*1778A>T)
c.1945A>T (p.Lys649Ter)
c.2026A>T (p.Lys676Ter)
n.310-3811A>T
c.733A>T (p.Lys245Ter)
c.1810A>T (p.Lys604Ter)
c.1897A>T (p.Lys633Ter)
n.750A>T
n.418A>T
c.2149A>T (p.Lys717Ter)
c.2002A>T (p.Lys668Ter)
c.2032-2208A>T (n.2032-2208A>T)
c.1990A>T (p.Lys664Ter)
c.1969A>T (p.Lys657Ter)
c.2158A>T (p.Lys720Ter)
c.2077A>T (p.Lys693Ter)
c.2011A>T (p.Lys671Ter)
c.1891A>T (p.Lys631Ter)
c.1798A>T (p.Lys600Ter)
c.1534A>T (p.Lys512Ter)
c.1978A>T (p.Lys660Ter)
c.1903A>T (p.Lys635Ter)
1g.92607610T>CCA341151921EVI5c.1930A>G (p.Lys644Glu)
c.1921A>G (p.Lys641Glu)
c.*1778A>G (n.*1778A>G)
c.1945A>G (p.Lys649Glu)
c.2026A>G (p.Lys676Glu)
n.310-3811A>G
c.733A>G (p.Lys245Glu)
c.1810A>G (p.Lys604Glu)
c.1897A>G (p.Lys633Glu)
n.750A>G
n.418A>G
c.2149A>G (p.Lys717Glu)
c.2002A>G (p.Lys668Glu)
c.2032-2208A>G (n.2032-2208A>G)
c.1990A>G (p.Lys664Glu)
c.1969A>G (p.Lys657Glu)
c.2158A>G (p.Lys720Glu)
c.2077A>G (p.Lys693Glu)
c.2011A>G (p.Lys671Glu)
c.1891A>G (p.Lys631Glu)
c.1798A>G (p.Lys600Glu)
c.1534A>G (p.Lys512Glu)
c.1978A>G (p.Lys660Glu)
c.1903A>G (p.Lys635Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.92607610T>GCA341151922EVI5c.1930A>C (p.Lys644Gln)
c.1921A>C (p.Lys641Gln)
c.*1778A>C (n.*1778A>C)
c.1945A>C (p.Lys649Gln)
c.2026A>C (p.Lys676Gln)
n.310-3811A>C
c.733A>C (p.Lys245Gln)
c.1810A>C (p.Lys604Gln)
c.1897A>C (p.Lys633Gln)
n.750A>C
n.418A>C
c.2149A>C (p.Lys717Gln)
c.2002A>C (p.Lys668Gln)
c.2032-2208A>C (n.2032-2208A>C)
c.1990A>C (p.Lys664Gln)
c.1969A>C (p.Lys657Gln)
c.2158A>C (p.Lys720Gln)
c.2077A>C (p.Lys693Gln)
c.2011A>C (p.Lys671Gln)
c.1891A>C (p.Lys631Gln)
c.1798A>C (p.Lys600Gln)
c.1534A>C (p.Lys512Gln)
c.1978A>C (p.Lys660Gln)
c.1903A>C (p.Lys635Gln)
 dbSNP
1g.92607610T=CA1180836746EVI5c.1930A= (p.Lys644=)
c.1921A= (p.Lys641=)
c.*1778A= (n.*1778A=)
c.1945A= (p.Lys649=)
c.2026A= (p.Lys676=)
n.310-3811A=
c.733A= (p.Lys245=)
c.1810A= (p.Lys604=)
c.1897A= (p.Lys633=)
n.750A=
n.418A=
c.2149A= (p.Lys717=)
c.2002A= (p.Lys668=)
c.2032-2208A= (n.2032-2208A=)
c.1990A= (p.Lys664=)
c.1969A= (p.Lys657=)
c.2158A= (p.Lys720=)
c.2077A= (p.Lys693=)
c.2011A= (p.Lys671=)
c.1891A= (p.Lys631=)
c.1798A= (p.Lys600=)
c.1534A= (p.Lys512=)
c.1978A= (p.Lys660=)
c.1903A= (p.Lys635=)
1g.92607611T>ACA418958663EVI5c.1929A>T (p.Ala643=)
c.1920A>T (p.Ala640=)
c.*1777A>T (n.*1777A>T)
c.1944A>T (p.Ala648=)
c.2025A>T (p.Ala675=)
n.310-3812A>T
c.732A>T (p.Ala244=)
c.1809A>T (p.Ala603=)
c.1896A>T (p.Ala632=)
n.749A>T
n.417A>T
c.2148A>T (p.Ala716=)
c.2001A>T (p.Ala667=)
c.2032-2209A>T (n.2032-2209A>T)
c.1989A>T (p.Ala663=)
c.1968A>T (p.Ala656=)
c.2157A>T (p.Ala719=)
c.2076A>T (p.Ala692=)
c.2010A>T (p.Ala670=)
c.1890A>T (p.Ala630=)
c.1797A>T (p.Ala599=)
c.1533A>T (p.Ala511=)
c.1977A>T (p.Ala659=)
c.1902A>T (p.Ala634=)
1g.92607611T>CCA418958665EVI5c.1929A>G (p.Ala643=)
c.1920A>G (p.Ala640=)
c.*1777A>G (n.*1777A>G)
c.1944A>G (p.Ala648=)
c.2025A>G (p.Ala675=)
n.310-3812A>G
c.732A>G (p.Ala244=)
c.1809A>G (p.Ala603=)
c.1896A>G (p.Ala632=)
n.749A>G
n.417A>G
c.2148A>G (p.Ala716=)
c.2001A>G (p.Ala667=)
c.2032-2209A>G (n.2032-2209A>G)
c.1989A>G (p.Ala663=)
c.1968A>G (p.Ala656=)
c.2157A>G (p.Ala719=)
c.2076A>G (p.Ala692=)
c.2010A>G (p.Ala670=)
c.1890A>G (p.Ala630=)
c.1797A>G (p.Ala599=)
c.1533A>G (p.Ala511=)
c.1977A>G (p.Ala659=)
c.1902A>G (p.Ala634=)
1g.92607611T>GCA418958668EVI5c.1929A>C (p.Ala643=)
c.1920A>C (p.Ala640=)
c.*1777A>C (n.*1777A>C)
c.1944A>C (p.Ala648=)
c.2025A>C (p.Ala675=)
n.310-3812A>C
c.732A>C (p.Ala244=)
c.1809A>C (p.Ala603=)
c.1896A>C (p.Ala632=)
n.749A>C
n.417A>C
c.2148A>C (p.Ala716=)
c.2001A>C (p.Ala667=)
c.2032-2209A>C (n.2032-2209A>C)
c.1989A>C (p.Ala663=)
c.1968A>C (p.Ala656=)
c.2157A>C (p.Ala719=)
c.2076A>C (p.Ala692=)
c.2010A>C (p.Ala670=)
c.1890A>C (p.Ala630=)
c.1797A>C (p.Ala599=)
c.1533A>C (p.Ala511=)
c.1977A>C (p.Ala659=)
c.1902A>C (p.Ala634=)
1g.92607612G>ACA341151924EVI5c.1928C>T (p.Ala643Val)
c.1919C>T (p.Ala640Val)
c.*1776C>T (n.*1776C>T)
c.1943C>T (p.Ala648Val)
c.2024C>T (p.Ala675Val)
n.310-3813C>T
c.731C>T (p.Ala244Val)
c.1808C>T (p.Ala603Val)
c.1895C>T (p.Ala632Val)
n.748C>T
n.416C>T
c.2147C>T (p.Ala716Val)
c.2000C>T (p.Ala667Val)
c.2032-2210C>T (n.2032-2210C>T)
c.1988C>T (p.Ala663Val)
c.1967C>T (p.Ala656Val)
c.2156C>T (p.Ala719Val)
c.2075C>T (p.Ala692Val)
c.2009C>T (p.Ala670Val)
c.1889C>T (p.Ala630Val)
c.1796C>T (p.Ala599Val)
c.1532C>T (p.Ala511Val)
c.1976C>T (p.Ala659Val)
c.1901C>T (p.Ala634Val)
 COSMIC COSMIC
1g.92607612G>CCA341151926EVI5c.1928C>G (p.Ala643Gly)
c.1919C>G (p.Ala640Gly)
c.*1776C>G (n.*1776C>G)
c.1943C>G (p.Ala648Gly)
c.2024C>G (p.Ala675Gly)
n.310-3813C>G
c.731C>G (p.Ala244Gly)
c.1808C>G (p.Ala603Gly)
c.1895C>G (p.Ala632Gly)
n.748C>G
n.416C>G
c.2147C>G (p.Ala716Gly)
c.2000C>G (p.Ala667Gly)
c.2032-2210C>G (n.2032-2210C>G)
c.1988C>G (p.Ala663Gly)
c.1967C>G (p.Ala656Gly)
c.2156C>G (p.Ala719Gly)
c.2075C>G (p.Ala692Gly)
c.2009C>G (p.Ala670Gly)
c.1889C>G (p.Ala630Gly)
c.1796C>G (p.Ala599Gly)
c.1532C>G (p.Ala511Gly)
c.1976C>G (p.Ala659Gly)
c.1901C>G (p.Ala634Gly)
1g.92607612G>TCA341151928EVI5c.1928C>A (p.Ala643Glu)
c.1919C>A (p.Ala640Glu)
c.*1776C>A (n.*1776C>A)
c.1943C>A (p.Ala648Glu)
c.2024C>A (p.Ala675Glu)
n.310-3813C>A
c.731C>A (p.Ala244Glu)
c.1808C>A (p.Ala603Glu)
c.1895C>A (p.Ala632Glu)
n.748C>A
n.416C>A
c.2147C>A (p.Ala716Glu)
c.2000C>A (p.Ala667Glu)
c.2032-2210C>A (n.2032-2210C>A)
c.1988C>A (p.Ala663Glu)
c.1967C>A (p.Ala656Glu)
c.2156C>A (p.Ala719Glu)
c.2075C>A (p.Ala692Glu)
c.2009C>A (p.Ala670Glu)
c.1889C>A (p.Ala630Glu)
c.1796C>A (p.Ala599Glu)
c.1532C>A (p.Ala511Glu)
c.1976C>A (p.Ala659Glu)
c.1901C>A (p.Ala634Glu)
 gnomAD v4
1g.92607613C>ACA341151930EVI5c.1927G>T (p.Ala643Ser)
c.1918G>T (p.Ala640Ser)
c.*1775G>T (n.*1775G>T)
c.1942G>T (p.Ala648Ser)
c.2023G>T (p.Ala675Ser)
n.310-3814G>T
c.730G>T (p.Ala244Ser)
c.1807G>T (p.Ala603Ser)
c.1894G>T (p.Ala632Ser)
n.747G>T
n.415G>T
c.2146G>T (p.Ala716Ser)
c.1999G>T (p.Ala667Ser)
c.2032-2211G>T (n.2032-2211G>T)
c.1987G>T (p.Ala663Ser)
c.1966G>T (p.Ala656Ser)
c.2155G>T (p.Ala719Ser)
c.2074G>T (p.Ala692Ser)
c.2008G>T (p.Ala670Ser)
c.1888G>T (p.Ala630Ser)
c.1795G>T (p.Ala599Ser)
c.1531G>T (p.Ala511Ser)
c.1975G>T (p.Ala659Ser)
c.1900G>T (p.Ala634Ser)
1g.92607613C>GCA341151932EVI5c.1927G>C (p.Ala643Pro)
c.1918G>C (p.Ala640Pro)
c.*1775G>C (n.*1775G>C)
c.1942G>C (p.Ala648Pro)
c.2023G>C (p.Ala675Pro)
n.310-3814G>C
c.730G>C (p.Ala244Pro)
c.1807G>C (p.Ala603Pro)
c.1894G>C (p.Ala632Pro)
n.747G>C
n.415G>C
c.2146G>C (p.Ala716Pro)
c.1999G>C (p.Ala667Pro)
c.2032-2211G>C (n.2032-2211G>C)
c.1987G>C (p.Ala663Pro)
c.1966G>C (p.Ala656Pro)
c.2155G>C (p.Ala719Pro)
c.2074G>C (p.Ala692Pro)
c.2008G>C (p.Ala670Pro)
c.1888G>C (p.Ala630Pro)
c.1795G>C (p.Ala599Pro)
c.1531G>C (p.Ala511Pro)
c.1975G>C (p.Ala659Pro)
c.1900G>C (p.Ala634Pro)
1g.92607613C>TCA341151933EVI5c.1927G>A (p.Ala643Thr)
c.1918G>A (p.Ala640Thr)
c.*1775G>A (n.*1775G>A)
c.1942G>A (p.Ala648Thr)
c.2023G>A (p.Ala675Thr)
n.310-3814G>A
c.730G>A (p.Ala244Thr)
c.1807G>A (p.Ala603Thr)
c.1894G>A (p.Ala632Thr)
n.747G>A
n.415G>A
c.2146G>A (p.Ala716Thr)
c.1999G>A (p.Ala667Thr)
c.2032-2211G>A (n.2032-2211G>A)
c.1987G>A (p.Ala663Thr)
c.1966G>A (p.Ala656Thr)
c.2155G>A (p.Ala719Thr)
c.2074G>A (p.Ala692Thr)
c.2008G>A (p.Ala670Thr)
c.1888G>A (p.Ala630Thr)
c.1795G>A (p.Ala599Thr)
c.1531G>A (p.Ala511Thr)
c.1975G>A (p.Ala659Thr)
c.1900G>A (p.Ala634Thr)
 gnomAD v4
1g.92607614T>ACA341151935EVI5c.1926A>T (p.Glu642Asp)
c.1917A>T (p.Glu639Asp)
c.*1774A>T (n.*1774A>T)
c.1941A>T (p.Glu647Asp)
c.2022A>T (p.Glu674Asp)
n.310-3815A>T
c.729A>T (p.Glu243Asp)
c.1806A>T (p.Glu602Asp)
c.1893A>T (p.Glu631Asp)
n.746A>T
n.414A>T
c.2145A>T (p.Glu715Asp)
c.1998A>T (p.Glu666Asp)
c.2032-2212A>T (n.2032-2212A>T)
c.1986A>T (p.Glu662Asp)
c.1965A>T (p.Glu655Asp)
c.2154A>T (p.Glu718Asp)
c.2073A>T (p.Glu691Asp)
c.2007A>T (p.Glu669Asp)
c.1887A>T (p.Glu629Asp)
c.1794A>T (p.Glu598Asp)
c.1530A>T (p.Glu510Asp)
c.1974A>T (p.Glu658Asp)
c.1899A>T (p.Glu633Asp)
 gnomAD v4
1g.92607614T>CCA418958682EVI5c.1926A>G (p.Glu642=)
c.1917A>G (p.Glu639=)
c.*1774A>G (n.*1774A>G)
c.1941A>G (p.Glu647=)
c.2022A>G (p.Glu674=)
n.310-3815A>G
c.729A>G (p.Glu243=)
c.1806A>G (p.Glu602=)
c.1893A>G (p.Glu631=)
n.746A>G
n.414A>G
c.2145A>G (p.Glu715=)
c.1998A>G (p.Glu666=)
c.2032-2212A>G (n.2032-2212A>G)
c.1986A>G (p.Glu662=)
c.1965A>G (p.Glu655=)
c.2154A>G (p.Glu718=)
c.2073A>G (p.Glu691=)
c.2007A>G (p.Glu669=)
c.1887A>G (p.Glu629=)
c.1794A>G (p.Glu598=)
c.1530A>G (p.Glu510=)
c.1974A>G (p.Glu658=)
c.1899A>G (p.Glu633=)
1g.92607614T>GCA341151936EVI5c.1926A>C (p.Glu642Asp)
c.1917A>C (p.Glu639Asp)
c.*1774A>C (n.*1774A>C)
c.1941A>C (p.Glu647Asp)
c.2022A>C (p.Glu674Asp)
n.310-3815A>C
c.729A>C (p.Glu243Asp)
c.1806A>C (p.Glu602Asp)
c.1893A>C (p.Glu631Asp)
n.746A>C
n.414A>C
c.2145A>C (p.Glu715Asp)
c.1998A>C (p.Glu666Asp)
c.2032-2212A>C (n.2032-2212A>C)
c.1986A>C (p.Glu662Asp)
c.1965A>C (p.Glu655Asp)
c.2154A>C (p.Glu718Asp)
c.2073A>C (p.Glu691Asp)
c.2007A>C (p.Glu669Asp)
c.1887A>C (p.Glu629Asp)
c.1794A>C (p.Glu598Asp)
c.1530A>C (p.Glu510Asp)
c.1974A>C (p.Glu658Asp)
c.1899A>C (p.Glu633Asp)
 gnomAD v4
1g.92607615T>ACA341151942EVI5c.1925A>T (p.Glu642Val)
c.1916A>T (p.Glu639Val)
c.*1773A>T (n.*1773A>T)
c.1940A>T (p.Glu647Val)
c.2021A>T (p.Glu674Val)
n.310-3816A>T
c.728A>T (p.Glu243Val)
c.1805A>T (p.Glu602Val)
c.1892A>T (p.Glu631Val)
n.745A>T
n.413A>T
c.2144A>T (p.Glu715Val)
c.1997A>T (p.Glu666Val)
c.2032-2213A>T (n.2032-2213A>T)
c.1985A>T (p.Glu662Val)
c.1964A>T (p.Glu655Val)
c.2153A>T (p.Glu718Val)
c.2072A>T (p.Glu691Val)
c.2006A>T (p.Glu669Val)
c.1886A>T (p.Glu629Val)
c.1793A>T (p.Glu598Val)
c.1529A>T (p.Glu510Val)
c.1973A>T (p.Glu658Val)
c.1898A>T (p.Glu633Val)
1g.92607615T>CCA341151941EVI5c.1925A>G (p.Glu642Gly)
c.1916A>G (p.Glu639Gly)
c.*1773A>G (n.*1773A>G)
c.1940A>G (p.Glu647Gly)
c.2021A>G (p.Glu674Gly)
n.310-3816A>G
c.728A>G (p.Glu243Gly)
c.1805A>G (p.Glu602Gly)
c.1892A>G (p.Glu631Gly)
n.745A>G
n.413A>G
c.2144A>G (p.Glu715Gly)
c.1997A>G (p.Glu666Gly)
c.2032-2213A>G (n.2032-2213A>G)
c.1985A>G (p.Glu662Gly)
c.1964A>G (p.Glu655Gly)
c.2153A>G (p.Glu718Gly)
c.2072A>G (p.Glu691Gly)
c.2006A>G (p.Glu669Gly)
c.1886A>G (p.Glu629Gly)
c.1793A>G (p.Glu598Gly)
c.1529A>G (p.Glu510Gly)
c.1973A>G (p.Glu658Gly)
c.1898A>G (p.Glu633Gly)
1g.92607615T>GCA341151939EVI5c.1925A>C (p.Glu642Ala)
c.1916A>C (p.Glu639Ala)
c.*1773A>C (n.*1773A>C)
c.1940A>C (p.Glu647Ala)
c.2021A>C (p.Glu674Ala)
n.310-3816A>C
c.728A>C (p.Glu243Ala)
c.1805A>C (p.Glu602Ala)
c.1892A>C (p.Glu631Ala)
n.745A>C
n.413A>C
c.2144A>C (p.Glu715Ala)
c.1997A>C (p.Glu666Ala)
c.2032-2213A>C (n.2032-2213A>C)
c.1985A>C (p.Glu662Ala)
c.1964A>C (p.Glu655Ala)
c.2153A>C (p.Glu718Ala)
c.2072A>C (p.Glu691Ala)
c.2006A>C (p.Glu669Ala)
c.1886A>C (p.Glu629Ala)
c.1793A>C (p.Glu598Ala)
c.1529A>C (p.Glu510Ala)
c.1973A>C (p.Glu658Ala)
c.1898A>C (p.Glu633Ala)
1g.92607616C>ACA341151945EVI5c.1924G>T (p.Glu642Ter)
c.1915G>T (p.Glu639Ter)
c.*1772G>T (n.*1772G>T)
c.1939G>T (p.Glu647Ter)
c.2020G>T (p.Glu674Ter)
n.310-3817G>T
c.727G>T (p.Glu243Ter)
c.1804G>T (p.Glu602Ter)
c.1891G>T (p.Glu631Ter)
n.654G>T
n.744G>T
n.412G>T
c.2143G>T (p.Glu715Ter)
c.1996G>T (p.Glu666Ter)
c.2032-2214G>T (n.2032-2214G>T)
c.1984G>T (p.Glu662Ter)
c.1963G>T (p.Glu655Ter)
c.2152G>T (p.Glu718Ter)
c.2071G>T (p.Glu691Ter)
c.2005G>T (p.Glu669Ter)
c.1885G>T (p.Glu629Ter)
c.1792G>T (p.Glu598Ter)
c.1528G>T (p.Glu510Ter)
c.1972G>T (p.Glu658Ter)
c.1897G>T (p.Glu633Ter)
1g.92607616C>GCA341151946EVI5c.1924G>C (p.Glu642Gln)
c.1915G>C (p.Glu639Gln)
c.*1772G>C (n.*1772G>C)
c.1939G>C (p.Glu647Gln)
c.2020G>C (p.Glu674Gln)
n.310-3817G>C
c.727G>C (p.Glu243Gln)
c.1804G>C (p.Glu602Gln)
c.1891G>C (p.Glu631Gln)
n.654G>C
n.744G>C
n.412G>C
c.2143G>C (p.Glu715Gln)
c.1996G>C (p.Glu666Gln)
c.2032-2214G>C (n.2032-2214G>C)
c.1984G>C (p.Glu662Gln)
c.1963G>C (p.Glu655Gln)
c.2152G>C (p.Glu718Gln)
c.2071G>C (p.Glu691Gln)
c.2005G>C (p.Glu669Gln)
c.1885G>C (p.Glu629Gln)
c.1792G>C (p.Glu598Gln)
c.1528G>C (p.Glu510Gln)
c.1972G>C (p.Glu658Gln)
c.1897G>C (p.Glu633Gln)
 gnomAD v4
1g.92607616C>TCA341151948EVI5c.1924G>A (p.Glu642Lys)
c.1915G>A (p.Glu639Lys)
c.*1772G>A (n.*1772G>A)
c.1939G>A (p.Glu647Lys)
c.2020G>A (p.Glu674Lys)
n.310-3817G>A
c.727G>A (p.Glu243Lys)
c.1804G>A (p.Glu602Lys)
c.1891G>A (p.Glu631Lys)
n.654G>A
n.744G>A
n.412G>A
c.2143G>A (p.Glu715Lys)
c.1996G>A (p.Glu666Lys)
c.2032-2214G>A (n.2032-2214G>A)
c.1984G>A (p.Glu662Lys)
c.1963G>A (p.Glu655Lys)
c.2152G>A (p.Glu718Lys)
c.2071G>A (p.Glu691Lys)
c.2005G>A (p.Glu669Lys)
c.1885G>A (p.Glu629Lys)
c.1792G>A (p.Glu598Lys)
c.1528G>A (p.Glu510Lys)
c.1972G>A (p.Glu658Lys)
c.1897G>A (p.Glu633Lys)
 gnomAD v4
1g.92607617A>CCA341151949EVI5c.1923T>G (p.Ser641Arg)
c.1914T>G (p.Ser638Arg)
c.*1771T>G (n.*1771T>G)
c.1938T>G (p.Ser646Arg)
c.2019T>G (p.Ser673Arg)
n.310-3818T>G
c.726T>G (p.Ser242Arg)
c.1803T>G (p.Ser601Arg)
c.1890T>G (p.Ser630Arg)
n.653T>G
n.743T>G
n.411T>G
c.2142T>G (p.Ser714Arg)
c.1995T>G (p.Ser665Arg)
c.2032-2215T>G (n.2032-2215T>G)
c.1983T>G (p.Ser661Arg)
c.1962T>G (p.Ser654Arg)
c.2151T>G (p.Ser717Arg)
c.2070T>G (p.Ser690Arg)
c.2004T>G (p.Ser668Arg)
c.1884T>G (p.Ser628Arg)
c.1791T>G (p.Ser597Arg)
c.1527T>G (p.Ser509Arg)
c.1971T>G (p.Ser657Arg)
c.1896T>G (p.Ser632Arg)
1g.92607617A>GCA418958690EVI5c.1923T>C (p.Ser641=)
c.1914T>C (p.Ser638=)
c.*1771T>C (n.*1771T>C)
c.1938T>C (p.Ser646=)
c.2019T>C (p.Ser673=)
n.310-3818T>C
c.726T>C (p.Ser242=)
c.1803T>C (p.Ser601=)
c.1890T>C (p.Ser630=)
n.653T>C
n.743T>C
n.411T>C
c.2142T>C (p.Ser714=)
c.1995T>C (p.Ser665=)
c.2032-2215T>C (n.2032-2215T>C)
c.1983T>C (p.Ser661=)
c.1962T>C (p.Ser654=)
c.2151T>C (p.Ser717=)
c.2070T>C (p.Ser690=)
c.2004T>C (p.Ser668=)
c.1884T>C (p.Ser628=)
c.1791T>C (p.Ser597=)
c.1527T>C (p.Ser509=)
c.1971T>C (p.Ser657=)
c.1896T>C (p.Ser632=)
1g.92607617A>TCA341151951EVI5c.1923T>A (p.Ser641Arg)
c.1914T>A (p.Ser638Arg)
c.*1771T>A (n.*1771T>A)
c.1938T>A (p.Ser646Arg)
c.2019T>A (p.Ser673Arg)
n.310-3818T>A
c.726T>A (p.Ser242Arg)
c.1803T>A (p.Ser601Arg)
c.1890T>A (p.Ser630Arg)
n.653T>A
n.743T>A
n.411T>A
c.2142T>A (p.Ser714Arg)
c.1995T>A (p.Ser665Arg)
c.2032-2215T>A (n.2032-2215T>A)
c.1983T>A (p.Ser661Arg)
c.1962T>A (p.Ser654Arg)
c.2151T>A (p.Ser717Arg)
c.2070T>A (p.Ser690Arg)
c.2004T>A (p.Ser668Arg)
c.1884T>A (p.Ser628Arg)
c.1791T>A (p.Ser597Arg)
c.1527T>A (p.Ser509Arg)
c.1971T>A (p.Ser657Arg)
c.1896T>A (p.Ser632Arg)
1g.92607618C>ACA341151953EVI5c.1922G>T (p.Ser641Ile)
c.1913G>T (p.Ser638Ile)
c.*1770G>T (n.*1770G>T)
c.1937G>T (p.Ser646Ile)
c.2018G>T (p.Ser673Ile)
n.310-3819G>T
c.725G>T (p.Ser242Ile)
c.1802G>T (p.Ser601Ile)
c.1889G>T (p.Ser630Ile)
n.652G>T
n.742G>T
n.410G>T
c.2141G>T (p.Ser714Ile)
c.1994G>T (p.Ser665Ile)
c.2032-2216G>T (n.2032-2216G>T)
c.1982G>T (p.Ser661Ile)
c.1961G>T (p.Ser654Ile)
c.2150G>T (p.Ser717Ile)
c.2069G>T (p.Ser690Ile)
c.2003G>T (p.Ser668Ile)
c.1883G>T (p.Ser628Ile)
c.1790G>T (p.Ser597Ile)
c.1526G>T (p.Ser509Ile)
c.1970G>T (p.Ser657Ile)
c.1895G>T (p.Ser632Ile)
 gnomAD v4 COSMIC
1g.92607618C=CA1180836749EVI5c.1922G= (p.Ser641=)
c.1913G= (p.Ser638=)
c.*1770G= (n.*1770G=)
c.1937G= (p.Ser646=)
c.2018G= (p.Ser673=)
n.310-3819G=
c.725G= (p.Ser242=)
c.1802G= (p.Ser601=)
c.1889G= (p.Ser630=)
n.652G=
n.742G=
n.410G=
c.2141G= (p.Ser714=)
c.1994G= (p.Ser665=)
c.2032-2216G= (n.2032-2216G=)
c.1982G= (p.Ser661=)
c.1961G= (p.Ser654=)
c.2150G= (p.Ser717=)
c.2069G= (p.Ser690=)
c.2003G= (p.Ser668=)
c.1883G= (p.Ser628=)
c.1790G= (p.Ser597=)
c.1526G= (p.Ser509=)
c.1970G= (p.Ser657=)
c.1895G= (p.Ser632=)
1g.92607618C>GCA27104234EVI5c.1922G>C (p.Ser641Thr)
c.1913G>C (p.Ser638Thr)
c.*1770G>C (n.*1770G>C)
c.1937G>C (p.Ser646Thr)
c.2018G>C (p.Ser673Thr)
n.310-3819G>C
c.725G>C (p.Ser242Thr)
c.1802G>C (p.Ser601Thr)
c.1889G>C (p.Ser630Thr)
n.652G>C
n.742G>C
n.410G>C
c.2141G>C (p.Ser714Thr)
c.1994G>C (p.Ser665Thr)
c.2032-2216G>C (n.2032-2216G>C)
c.1982G>C (p.Ser661Thr)
c.1961G>C (p.Ser654Thr)
c.2150G>C (p.Ser717Thr)
c.2069G>C (p.Ser690Thr)
c.2003G>C (p.Ser668Thr)
c.1883G>C (p.Ser628Thr)
c.1790G>C (p.Ser597Thr)
c.1526G>C (p.Ser509Thr)
c.1970G>C (p.Ser657Thr)
c.1895G>C (p.Ser632Thr)
 dbSNP gnomAD v4
1g.92607618C>TCA341151955EVI5c.1922G>A (p.Ser641Asn)
c.1913G>A (p.Ser638Asn)
c.*1770G>A (n.*1770G>A)
c.1937G>A (p.Ser646Asn)
c.2018G>A (p.Ser673Asn)
n.310-3819G>A
c.725G>A (p.Ser242Asn)
c.1802G>A (p.Ser601Asn)
c.1889G>A (p.Ser630Asn)
n.652G>A
n.742G>A
n.410G>A
c.2141G>A (p.Ser714Asn)
c.1994G>A (p.Ser665Asn)
c.2032-2216G>A (n.2032-2216G>A)
c.1982G>A (p.Ser661Asn)
c.1961G>A (p.Ser654Asn)
c.2150G>A (p.Ser717Asn)
c.2069G>A (p.Ser690Asn)
c.2003G>A (p.Ser668Asn)
c.1883G>A (p.Ser628Asn)
c.1790G>A (p.Ser597Asn)
c.1526G>A (p.Ser509Asn)
c.1970G>A (p.Ser657Asn)
c.1895G>A (p.Ser632Asn)
1g.92607619T>ACA341151958EVI5c.1921A>T (p.Ser641Cys)
c.1912A>T (p.Ser638Cys)
c.*1769A>T (n.*1769A>T)
c.1936A>T (p.Ser646Cys)
c.2017A>T (p.Ser673Cys)
n.310-3820A>T
c.724A>T (p.Ser242Cys)
c.1801A>T (p.Ser601Cys)
c.1888A>T (p.Ser630Cys)
n.651A>T
n.741A>T
n.409A>T
c.2140A>T (p.Ser714Cys)
c.1993A>T (p.Ser665Cys)
c.2032-2217A>T (n.2032-2217A>T)
c.1981A>T (p.Ser661Cys)
c.1960A>T (p.Ser654Cys)
c.2149A>T (p.Ser717Cys)
c.2068A>T (p.Ser690Cys)
c.2002A>T (p.Ser668Cys)
c.1882A>T (p.Ser628Cys)
c.1789A>T (p.Ser597Cys)
c.1525A>T (p.Ser509Cys)
c.1969A>T (p.Ser657Cys)
c.1894A>T (p.Ser632Cys)
1g.92607619T>CCA341151959EVI5c.1921A>G (p.Ser641Gly)
c.1912A>G (p.Ser638Gly)
c.*1769A>G (n.*1769A>G)
c.1936A>G (p.Ser646Gly)
c.2017A>G (p.Ser673Gly)
n.310-3820A>G
c.724A>G (p.Ser242Gly)
c.1801A>G (p.Ser601Gly)
c.1888A>G (p.Ser630Gly)
n.651A>G
n.741A>G
n.409A>G
c.2140A>G (p.Ser714Gly)
c.1993A>G (p.Ser665Gly)
c.2032-2217A>G (n.2032-2217A>G)
c.1981A>G (p.Ser661Gly)
c.1960A>G (p.Ser654Gly)
c.2149A>G (p.Ser717Gly)
c.2068A>G (p.Ser690Gly)
c.2002A>G (p.Ser668Gly)
c.1882A>G (p.Ser628Gly)
c.1789A>G (p.Ser597Gly)
c.1525A>G (p.Ser509Gly)
c.1969A>G (p.Ser657Gly)
c.1894A>G (p.Ser632Gly)
 dbSNP gnomAD v4
1g.92607619T>GCA951683EVI5c.1921A>C (p.Ser641Arg)
c.1912A>C (p.Ser638Arg)
c.*1769A>C (n.*1769A>C)
c.1936A>C (p.Ser646Arg)
c.2017A>C (p.Ser673Arg)
n.310-3820A>C
c.724A>C (p.Ser242Arg)
c.1801A>C (p.Ser601Arg)
c.1888A>C (p.Ser630Arg)
n.651A>C
n.741A>C
n.409A>C
c.2140A>C (p.Ser714Arg)
c.1993A>C (p.Ser665Arg)
c.2032-2217A>C (n.2032-2217A>C)
c.1981A>C (p.Ser661Arg)
c.1960A>C (p.Ser654Arg)
c.2149A>C (p.Ser717Arg)
c.2068A>C (p.Ser690Arg)
c.2002A>C (p.Ser668Arg)
c.1882A>C (p.Ser628Arg)
c.1789A>C (p.Ser597Arg)
c.1525A>C (p.Ser509Arg)
c.1969A>C (p.Ser657Arg)
c.1894A>C (p.Ser632Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.92607619T=CA1142394068EVI5c.1921A= (p.Ser641=)
c.1912A= (p.Ser638=)
c.*1769A= (n.*1769A=)
c.1936A= (p.Ser646=)
c.2017A= (p.Ser673=)
n.310-3820A=
c.724A= (p.Ser242=)
c.1801A= (p.Ser601=)
c.1888A= (p.Ser630=)
n.651A=
n.741A=
n.409A=
c.2140A= (p.Ser714=)
c.1993A= (p.Ser665=)
c.2032-2217A= (n.2032-2217A=)
c.1981A= (p.Ser661=)
c.1960A= (p.Ser654=)
c.2149A= (p.Ser717=)
c.2068A= (p.Ser690=)
c.2002A= (p.Ser668=)
c.1882A= (p.Ser628=)
c.1789A= (p.Ser597=)
c.1525A= (p.Ser509=)
c.1969A= (p.Ser657=)
c.1894A= (p.Ser632=)
1g.92607620T>ACA341151961EVI5c.1920A>T (p.Leu640Phe)
c.1911A>T (p.Leu637Phe)
c.*1768A>T (n.*1768A>T)
c.1935A>T (p.Leu645Phe)
c.2016A>T (p.Leu672Phe)
n.310-3821A>T
c.723A>T (p.Leu241Phe)
c.1800A>T (p.Leu600Phe)
c.1887A>T (p.Leu629Phe)
n.650A>T
n.740A>T
n.408A>T
c.2139A>T (p.Leu713Phe)
c.1992A>T (p.Leu664Phe)
c.2032-2218A>T (n.2032-2218A>T)
c.1980A>T (p.Leu660Phe)
c.1959A>T (p.Leu653Phe)
c.2148A>T (p.Leu716Phe)
c.2067A>T (p.Leu689Phe)
c.2001A>T (p.Leu667Phe)
c.1881A>T (p.Leu627Phe)
c.1788A>T (p.Leu596Phe)
c.1524A>T (p.Leu508Phe)
c.1968A>T (p.Leu656Phe)
c.1893A>T (p.Leu631Phe)
1g.92607620T>CCA418958705EVI5c.1920A>G (p.Leu640=)
c.1911A>G (p.Leu637=)
c.*1768A>G (n.*1768A>G)
c.1935A>G (p.Leu645=)
c.2016A>G (p.Leu672=)
n.310-3821A>G
c.723A>G (p.Leu241=)
c.1800A>G (p.Leu600=)
c.1887A>G (p.Leu629=)
n.650A>G
n.740A>G
n.408A>G
c.2139A>G (p.Leu713=)
c.1992A>G (p.Leu664=)
c.2032-2218A>G (n.2032-2218A>G)
c.1980A>G (p.Leu660=)
c.1959A>G (p.Leu653=)
c.2148A>G (p.Leu716=)
c.2067A>G (p.Leu689=)
c.2001A>G (p.Leu667=)
c.1881A>G (p.Leu627=)
c.1788A>G (p.Leu596=)
c.1524A>G (p.Leu508=)
c.1968A>G (p.Leu656=)
c.1893A>G (p.Leu631=)
1g.92607620T>GCA341151962EVI5c.1920A>C (p.Leu640Phe)
c.1911A>C (p.Leu637Phe)
c.*1768A>C (n.*1768A>C)
c.1935A>C (p.Leu645Phe)
c.2016A>C (p.Leu672Phe)
n.310-3821A>C
c.723A>C (p.Leu241Phe)
c.1800A>C (p.Leu600Phe)
c.1887A>C (p.Leu629Phe)
n.650A>C
n.740A>C
n.408A>C
c.2139A>C (p.Leu713Phe)
c.1992A>C (p.Leu664Phe)
c.2032-2218A>C (n.2032-2218A>C)
c.1980A>C (p.Leu660Phe)
c.1959A>C (p.Leu653Phe)
c.2148A>C (p.Leu716Phe)
c.2067A>C (p.Leu689Phe)
c.2001A>C (p.Leu667Phe)
c.1881A>C (p.Leu627Phe)
c.1788A>C (p.Leu596Phe)
c.1524A>C (p.Leu508Phe)
c.1968A>C (p.Leu656Phe)
c.1893A>C (p.Leu631Phe)
1g.92607621A>CCA341151968EVI5c.1919T>G (p.Leu640Ter)
c.1910T>G (p.Leu637Ter)
c.*1767T>G (n.*1767T>G)
c.1934T>G (p.Leu645Ter)
c.2015T>G (p.Leu672Ter)
n.310-3822T>G
c.722T>G (p.Leu241Ter)
c.1799T>G (p.Leu600Ter)
c.1886T>G (p.Leu629Ter)
n.649T>G
n.739T>G
n.407T>G
c.2138T>G (p.Leu713Ter)
c.1991T>G (p.Leu664Ter)
c.2032-2219T>G (n.2032-2219T>G)
c.1979T>G (p.Leu660Ter)
c.1958T>G (p.Leu653Ter)
c.2147T>G (p.Leu716Ter)
c.2066T>G (p.Leu689Ter)
c.2000T>G (p.Leu667Ter)
c.1880T>G (p.Leu627Ter)
c.1787T>G (p.Leu596Ter)
c.1523T>G (p.Leu508Ter)
c.1967T>G (p.Leu656Ter)
c.1892T>G (p.Leu631Ter)
1g.92607621A>GCA341151966EVI5c.1919T>C (p.Leu640Ser)
c.1910T>C (p.Leu637Ser)
c.*1767T>C (n.*1767T>C)
c.1934T>C (p.Leu645Ser)
c.2015T>C (p.Leu672Ser)
n.310-3822T>C
c.722T>C (p.Leu241Ser)
c.1799T>C (p.Leu600Ser)
c.1886T>C (p.Leu629Ser)
n.649T>C
n.739T>C
n.407T>C
c.2138T>C (p.Leu713Ser)
c.1991T>C (p.Leu664Ser)
c.2032-2219T>C (n.2032-2219T>C)
c.1979T>C (p.Leu660Ser)
c.1958T>C (p.Leu653Ser)
c.2147T>C (p.Leu716Ser)
c.2066T>C (p.Leu689Ser)
c.2000T>C (p.Leu667Ser)
c.1880T>C (p.Leu627Ser)
c.1787T>C (p.Leu596Ser)
c.1523T>C (p.Leu508Ser)
c.1967T>C (p.Leu656Ser)
c.1892T>C (p.Leu631Ser)
1g.92607621A>TCA341151964EVI5c.1919T>A (p.Leu640Ter)
c.1910T>A (p.Leu637Ter)
c.*1767T>A (n.*1767T>A)
c.1934T>A (p.Leu645Ter)
c.2015T>A (p.Leu672Ter)
n.310-3822T>A
c.722T>A (p.Leu241Ter)
c.1799T>A (p.Leu600Ter)
c.1886T>A (p.Leu629Ter)
n.649T>A
n.739T>A
n.407T>A
c.2138T>A (p.Leu713Ter)
c.1991T>A (p.Leu664Ter)
c.2032-2219T>A (n.2032-2219T>A)
c.1979T>A (p.Leu660Ter)
c.1958T>A (p.Leu653Ter)
c.2147T>A (p.Leu716Ter)
c.2066T>A (p.Leu689Ter)
c.2000T>A (p.Leu667Ter)
c.1880T>A (p.Leu627Ter)
c.1787T>A (p.Leu596Ter)
c.1523T>A (p.Leu508Ter)
c.1967T>A (p.Leu656Ter)
c.1892T>A (p.Leu631Ter)
1g.92607622A>CCA341151970EVI5c.1918T>G (p.Leu640Val)
c.1909T>G (p.Leu637Val)
c.*1766T>G (n.*1766T>G)
c.1933T>G (p.Leu645Val)
c.2014T>G (p.Leu672Val)
n.310-3823T>G
c.721T>G (p.Leu241Val)
c.1798T>G (p.Leu600Val)
c.1885T>G (p.Leu629Val)
n.648T>G
n.738T>G
n.406T>G
c.2137T>G (p.Leu713Val)
c.1990T>G (p.Leu664Val)
c.2032-2220T>G (n.2032-2220T>G)
c.1978T>G (p.Leu660Val)
c.1957T>G (p.Leu653Val)
c.2146T>G (p.Leu716Val)
c.2065T>G (p.Leu689Val)
c.1999T>G (p.Leu667Val)
c.1879T>G (p.Leu627Val)
c.1786T>G (p.Leu596Val)
c.1522T>G (p.Leu508Val)
c.1966T>G (p.Leu656Val)
c.1891T>G (p.Leu631Val)
1g.92607622A>GCA418958717EVI5c.1918T>C (p.Leu640=)
c.1909T>C (p.Leu637=)
c.*1766T>C (n.*1766T>C)
c.1933T>C (p.Leu645=)
c.2014T>C (p.Leu672=)
n.310-3823T>C
c.721T>C (p.Leu241=)
c.1798T>C (p.Leu600=)
c.1885T>C (p.Leu629=)
n.648T>C
n.738T>C
n.406T>C
c.2137T>C (p.Leu713=)
c.1990T>C (p.Leu664=)
c.2032-2220T>C (n.2032-2220T>C)
c.1978T>C (p.Leu660=)
c.1957T>C (p.Leu653=)
c.2146T>C (p.Leu716=)
c.2065T>C (p.Leu689=)
c.1999T>C (p.Leu667=)
c.1879T>C (p.Leu627=)
c.1786T>C (p.Leu596=)
c.1522T>C (p.Leu508=)
c.1966T>C (p.Leu656=)
c.1891T>C (p.Leu631=)
1g.92607622A>TCA341151972EVI5c.1918T>A (p.Leu640Ile)
c.1909T>A (p.Leu637Ile)
c.*1766T>A (n.*1766T>A)
c.1933T>A (p.Leu645Ile)
c.2014T>A (p.Leu672Ile)
n.310-3823T>A
c.721T>A (p.Leu241Ile)
c.1798T>A (p.Leu600Ile)
c.1885T>A (p.Leu629Ile)
n.648T>A
n.738T>A
n.406T>A
c.2137T>A (p.Leu713Ile)
c.1990T>A (p.Leu664Ile)
c.2032-2220T>A (n.2032-2220T>A)
c.1978T>A (p.Leu660Ile)
c.1957T>A (p.Leu653Ile)
c.2146T>A (p.Leu716Ile)
c.2065T>A (p.Leu689Ile)
c.1999T>A (p.Leu667Ile)
c.1879T>A (p.Leu627Ile)
c.1786T>A (p.Leu596Ile)
c.1522T>A (p.Leu508Ile)
c.1966T>A (p.Leu656Ile)
c.1891T>A (p.Leu631Ile)
1g.92607623T>ACA341151974EVI5c.1917A>T (p.Gln639His)
c.1908A>T (p.Gln636His)
c.*1765A>T (n.*1765A>T)
c.1932A>T (p.Gln644His)
c.2013A>T (p.Gln671His)
n.310-3824A>T
c.720A>T (p.Gln240His)
c.1797A>T (p.Gln599His)
c.1884A>T (p.Gln628His)
n.647A>T
n.737A>T
n.405A>T
c.2136A>T (p.Gln712His)
c.1989A>T (p.Gln663His)
c.2032-2221A>T (n.2032-2221A>T)
c.1977A>T (p.Gln659His)
c.1956A>T (p.Gln652His)
c.2145A>T (p.Gln715His)
c.2064A>T (p.Gln688His)
c.1998A>T (p.Gln666His)
c.1878A>T (p.Gln626His)
c.1785A>T (p.Gln595His)
c.1521A>T (p.Gln507His)
c.1965A>T (p.Gln655His)
c.1890A>T (p.Gln630His)
1g.92607623T>CCA951684EVI5c.1917A>G (p.Gln639=)
c.1908A>G (p.Gln636=)
c.*1765A>G (n.*1765A>G)
c.1932A>G (p.Gln644=)
c.2013A>G (p.Gln671=)
n.310-3824A>G
c.720A>G (p.Gln240=)
c.1797A>G (p.Gln599=)
c.1884A>G (p.Gln628=)
n.647A>G
n.737A>G
n.405A>G
c.2136A>G (p.Gln712=)
c.1989A>G (p.Gln663=)
c.2032-2221A>G (n.2032-2221A>G)
c.1977A>G (p.Gln659=)
c.1956A>G (p.Gln652=)
c.2145A>G (p.Gln715=)
c.2064A>G (p.Gln688=)
c.1998A>G (p.Gln666=)
c.1878A>G (p.Gln626=)
c.1785A>G (p.Gln595=)
c.1521A>G (p.Gln507=)
c.1965A>G (p.Gln655=)
c.1890A>G (p.Gln630=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.92607623T>GCA341151977EVI5c.1917A>C (p.Gln639His)
c.1908A>C (p.Gln636His)
c.*1765A>C (n.*1765A>C)
c.1932A>C (p.Gln644His)
c.2013A>C (p.Gln671His)
n.310-3824A>C
c.720A>C (p.Gln240His)
c.1797A>C (p.Gln599His)
c.1884A>C (p.Gln628His)
n.647A>C
n.737A>C
n.405A>C
c.2136A>C (p.Gln712His)
c.1989A>C (p.Gln663His)
c.2032-2221A>C (n.2032-2221A>C)
c.1977A>C (p.Gln659His)
c.1956A>C (p.Gln652His)
c.2145A>C (p.Gln715His)
c.2064A>C (p.Gln688His)
c.1998A>C (p.Gln666His)
c.1878A>C (p.Gln626His)
c.1785A>C (p.Gln595His)
c.1521A>C (p.Gln507His)
c.1965A>C (p.Gln655His)
c.1890A>C (p.Gln630His)
1g.92607623T=CA1149139529EVI5c.1917A= (p.Gln639=)
c.1908A= (p.Gln636=)
c.*1765A= (n.*1765A=)
c.1932A= (p.Gln644=)
c.2013A= (p.Gln671=)
n.310-3824A=
c.720A= (p.Gln240=)
c.1797A= (p.Gln599=)
c.1884A= (p.Gln628=)
n.647A=
n.737A=
n.405A=
c.2136A= (p.Gln712=)
c.1989A= (p.Gln663=)
c.2032-2221A= (n.2032-2221A=)
c.1977A= (p.Gln659=)
c.1956A= (p.Gln652=)
c.2145A= (p.Gln715=)
c.2064A= (p.Gln688=)
c.1998A= (p.Gln666=)
c.1878A= (p.Gln626=)
c.1785A= (p.Gln595=)
c.1521A= (p.Gln507=)
c.1965A= (p.Gln655=)
c.1890A= (p.Gln630=)
1g.92607624T>ACA341151979EVI5c.1916A>T (p.Gln639Leu)
c.1907A>T (p.Gln636Leu)
c.*1764A>T (n.*1764A>T)
c.1931A>T (p.Gln644Leu)
c.2012A>T (p.Gln671Leu)
n.310-3825A>T
c.719A>T (p.Gln240Leu)
c.1796A>T (p.Gln599Leu)
c.1883A>T (p.Gln628Leu)
n.646A>T
n.736A>T
n.404A>T
c.2135A>T (p.Gln712Leu)
c.1988A>T (p.Gln663Leu)
c.2032-2222A>T (n.2032-2222A>T)
c.1976A>T (p.Gln659Leu)
c.1955A>T (p.Gln652Leu)
c.2144A>T (p.Gln715Leu)
c.2063A>T (p.Gln688Leu)
c.1997A>T (p.Gln666Leu)
c.1877A>T (p.Gln626Leu)
c.1784A>T (p.Gln595Leu)
c.1520A>T (p.Gln507Leu)
c.1964A>T (p.Gln655Leu)
c.1889A>T (p.Gln630Leu)
1g.92607624T>CCA341151980EVI5c.1916A>G (p.Gln639Arg)
c.1907A>G (p.Gln636Arg)
c.*1764A>G (n.*1764A>G)
c.1931A>G (p.Gln644Arg)
c.2012A>G (p.Gln671Arg)
n.310-3825A>G
c.719A>G (p.Gln240Arg)
c.1796A>G (p.Gln599Arg)
c.1883A>G (p.Gln628Arg)
n.646A>G
n.736A>G
n.404A>G
c.2135A>G (p.Gln712Arg)
c.1988A>G (p.Gln663Arg)
c.2032-2222A>G (n.2032-2222A>G)
c.1976A>G (p.Gln659Arg)
c.1955A>G (p.Gln652Arg)
c.2144A>G (p.Gln715Arg)
c.2063A>G (p.Gln688Arg)
c.1997A>G (p.Gln666Arg)
c.1877A>G (p.Gln626Arg)
c.1784A>G (p.Gln595Arg)
c.1520A>G (p.Gln507Arg)
c.1964A>G (p.Gln655Arg)
c.1889A>G (p.Gln630Arg)
 gnomAD v4
1g.92607624T>GCA341151982EVI5c.1916A>C (p.Gln639Pro)
c.1907A>C (p.Gln636Pro)
c.*1764A>C (n.*1764A>C)
c.1931A>C (p.Gln644Pro)
c.2012A>C (p.Gln671Pro)
n.310-3825A>C
c.719A>C (p.Gln240Pro)
c.1796A>C (p.Gln599Pro)
c.1883A>C (p.Gln628Pro)
n.646A>C
n.736A>C
n.404A>C
c.2135A>C (p.Gln712Pro)
c.1988A>C (p.Gln663Pro)
c.2032-2222A>C (n.2032-2222A>C)
c.1976A>C (p.Gln659Pro)
c.1955A>C (p.Gln652Pro)
c.2144A>C (p.Gln715Pro)
c.2063A>C (p.Gln688Pro)
c.1997A>C (p.Gln666Pro)
c.1877A>C (p.Gln626Pro)
c.1784A>C (p.Gln595Pro)
c.1520A>C (p.Gln507Pro)
c.1964A>C (p.Gln655Pro)
c.1889A>C (p.Gln630Pro)
1g.92607625G>ACA341151984EVI5c.1915C>T (p.Gln639Ter)
c.1906C>T (p.Gln636Ter)
c.*1763C>T (n.*1763C>T)
c.1930C>T (p.Gln644Ter)
c.2011C>T (p.Gln671Ter)
n.310-3826C>T
c.718C>T (p.Gln240Ter)
c.1795C>T (p.Gln599Ter)
c.1882C>T (p.Gln628Ter)
n.645C>T
n.735C>T
n.403C>T
c.2134C>T (p.Gln712Ter)
c.1987C>T (p.Gln663Ter)
c.2032-2223C>T (n.2032-2223C>T)
c.1975C>T (p.Gln659Ter)
c.1954C>T (p.Gln652Ter)
c.2143C>T (p.Gln715Ter)
c.2062C>T (p.Gln688Ter)
c.1996C>T (p.Gln666Ter)
c.1876C>T (p.Gln626Ter)
c.1783C>T (p.Gln595Ter)
c.1519C>T (p.Gln507Ter)
c.1963C>T (p.Gln655Ter)
c.1888C>T (p.Gln630Ter)
 gnomAD v4
1g.92607625G>CCA341151985EVI5c.1915C>G (p.Gln639Glu)
c.1906C>G (p.Gln636Glu)
c.*1763C>G (n.*1763C>G)
c.1930C>G (p.Gln644Glu)
c.2011C>G (p.Gln671Glu)
n.310-3826C>G
c.718C>G (p.Gln240Glu)
c.1795C>G (p.Gln599Glu)
c.1882C>G (p.Gln628Glu)
n.645C>G
n.735C>G
n.403C>G
c.2134C>G (p.Gln712Glu)
c.1987C>G (p.Gln663Glu)
c.2032-2223C>G (n.2032-2223C>G)
c.1975C>G (p.Gln659Glu)
c.1954C>G (p.Gln652Glu)
c.2143C>G (p.Gln715Glu)
c.2062C>G (p.Gln688Glu)
c.1996C>G (p.Gln666Glu)
c.1876C>G (p.Gln626Glu)
c.1783C>G (p.Gln595Glu)
c.1519C>G (p.Gln507Glu)
c.1963C>G (p.Gln655Glu)
c.1888C>G (p.Gln630Glu)
1g.92607625G>TCA341151987EVI5c.1915C>A (p.Gln639Lys)
c.1906C>A (p.Gln636Lys)
c.*1763C>A (n.*1763C>A)
c.1930C>A (p.Gln644Lys)
c.2011C>A (p.Gln671Lys)
n.310-3826C>A
c.718C>A (p.Gln240Lys)
c.1795C>A (p.Gln599Lys)
c.1882C>A (p.Gln628Lys)
n.645C>A
n.735C>A
n.403C>A
c.2134C>A (p.Gln712Lys)
c.1987C>A (p.Gln663Lys)
c.2032-2223C>A (n.2032-2223C>A)
c.1975C>A (p.Gln659Lys)
c.1954C>A (p.Gln652Lys)
c.2143C>A (p.Gln715Lys)
c.2062C>A (p.Gln688Lys)
c.1996C>A (p.Gln666Lys)
c.1876C>A (p.Gln626Lys)
c.1783C>A (p.Gln595Lys)
c.1519C>A (p.Gln507Lys)
c.1963C>A (p.Gln655Lys)
c.1888C>A (p.Gln630Lys)
1g.92607626_92607627dupCA2646588506EVI5c.1914_1915dup (p.Gln639LeufsTer3)
c.1905_1906dup (p.Gln636LeufsTer3)
c.*1762_*1763dup (n.*1762_*1763dup)
c.1929_1930dup (p.Gln644LeufsTer3)
c.2010_2011dup (p.Gln671LeufsTer3)
n.310-3827_310-3826dup
c.717_718dup (p.Gln240LeufsTer3)
c.1794_1795dup (p.Gln599LeufsTer3)
c.1881_1882dup (p.Gln628LeufsTer3)
n.644_645dup
n.734_735dup
n.402_403dup
c.2133_2134dup (p.Gln712LeufsTer3)
c.1986_1987dup (p.Gln663LeufsTer3)
c.2032-2224_2032-2223dup (n.2032-2224_2032-2223dup)
c.1974_1975dup (p.Gln659LeufsTer3)
c.1953_1954dup (p.Gln652LeufsTer3)
c.2142_2143dup (p.Gln715LeufsTer3)
c.2061_2062dup (p.Gln688LeufsTer3)
c.1995_1996dup (p.Gln666LeufsTer3)
c.1875_1876dup (p.Gln626LeufsTer3)
c.1782_1783dup (p.Gln595LeufsTer3)
c.1518_1519dup (p.Gln507LeufsTer3)
c.1962_1963dup (p.Gln655LeufsTer3)
c.1887_1888dup (p.Gln630LeufsTer3)
 gnomAD v4
1g.92607626A>CCA418958734EVI5c.1914T>G (p.Thr638=)
c.1905T>G (p.Thr635=)
c.*1762T>G (n.*1762T>G)
c.1929T>G (p.Thr643=)
c.2010T>G (p.Thr670=)
n.310-3827T>G
c.717T>G (p.Thr239=)
c.1794T>G (p.Thr598=)
c.1881T>G (p.Thr627=)
n.644T>G
n.734T>G
n.402T>G
c.2133T>G (p.Thr711=)
c.1986T>G (p.Thr662=)
c.2032-2224T>G (n.2032-2224T>G)
c.1974T>G (p.Thr658=)
c.1953T>G (p.Thr651=)
c.2142T>G (p.Thr714=)
c.2061T>G (p.Thr687=)
c.1995T>G (p.Thr665=)
c.1875T>G (p.Thr625=)
c.1782T>G (p.Thr594=)
c.1518T>G (p.Thr506=)
c.1962T>G (p.Thr654=)
c.1887T>G (p.Thr629=)
1g.92607626A>GCA418958736EVI5c.1914T>C (p.Thr638=)
c.1905T>C (p.Thr635=)
c.*1762T>C (n.*1762T>C)
c.1929T>C (p.Thr643=)
c.2010T>C (p.Thr670=)
n.310-3827T>C
c.717T>C (p.Thr239=)
c.1794T>C (p.Thr598=)
c.1881T>C (p.Thr627=)
n.644T>C
n.734T>C
n.402T>C
c.2133T>C (p.Thr711=)
c.1986T>C (p.Thr662=)
c.2032-2224T>C (n.2032-2224T>C)
c.1974T>C (p.Thr658=)
c.1953T>C (p.Thr651=)
c.2142T>C (p.Thr714=)
c.2061T>C (p.Thr687=)
c.1995T>C (p.Thr665=)
c.1875T>C (p.Thr625=)
c.1782T>C (p.Thr594=)
c.1518T>C (p.Thr506=)
c.1962T>C (p.Thr654=)
c.1887T>C (p.Thr629=)
1g.92607626A>TCA418958738EVI5c.1914T>A (p.Thr638=)
c.1905T>A (p.Thr635=)
c.*1762T>A (n.*1762T>A)
c.1929T>A (p.Thr643=)
c.2010T>A (p.Thr670=)
n.310-3827T>A
c.717T>A (p.Thr239=)
c.1794T>A (p.Thr598=)
c.1881T>A (p.Thr627=)
n.644T>A
n.734T>A
n.402T>A
c.2133T>A (p.Thr711=)
c.1986T>A (p.Thr662=)
c.2032-2224T>A (n.2032-2224T>A)
c.1974T>A (p.Thr658=)
c.1953T>A (p.Thr651=)
c.2142T>A (p.Thr714=)
c.2061T>A (p.Thr687=)
c.1995T>A (p.Thr665=)
c.1875T>A (p.Thr625=)
c.1782T>A (p.Thr594=)
c.1518T>A (p.Thr506=)
c.1962T>A (p.Thr654=)
c.1887T>A (p.Thr629=)
1g.92607627G>ACA341151989EVI5c.1913C>T (p.Thr638Ile)
c.1904C>T (p.Thr635Ile)
c.*1761C>T (n.*1761C>T)
c.1928C>T (p.Thr643Ile)
c.2009C>T (p.Thr670Ile)
n.310-3828C>T
c.716C>T (p.Thr239Ile)
c.1793C>T (p.Thr598Ile)
c.1880C>T (p.Thr627Ile)
n.643C>T
n.733C>T
n.401C>T
c.2132C>T (p.Thr711Ile)
c.1985C>T (p.Thr662Ile)
c.2032-2225C>T (n.2032-2225C>T)
c.1973C>T (p.Thr658Ile)
c.1952C>T (p.Thr651Ile)
c.2141C>T (p.Thr714Ile)
c.2060C>T (p.Thr687Ile)
c.1994C>T (p.Thr665Ile)
c.1874C>T (p.Thr625Ile)
c.1781C>T (p.Thr594Ile)
c.1517C>T (p.Thr506Ile)
c.1961C>T (p.Thr654Ile)
c.1886C>T (p.Thr629Ile)
1g.92607627G>CCA951685EVI5c.1913C>G (p.Thr638Ser)
c.1904C>G (p.Thr635Ser)
c.*1761C>G (n.*1761C>G)
c.1928C>G (p.Thr643Ser)
c.2009C>G (p.Thr670Ser)
n.310-3828C>G
c.716C>G (p.Thr239Ser)
c.1793C>G (p.Thr598Ser)
c.1880C>G (p.Thr627Ser)
n.643C>G
n.733C>G
n.401C>G
c.2132C>G (p.Thr711Ser)
c.1985C>G (p.Thr662Ser)
c.2032-2225C>G (n.2032-2225C>G)
c.1973C>G (p.Thr658Ser)
c.1952C>G (p.Thr651Ser)
c.2141C>G (p.Thr714Ser)
c.2060C>G (p.Thr687Ser)
c.1994C>G (p.Thr665Ser)
c.1874C>G (p.Thr625Ser)
c.1781C>G (p.Thr594Ser)
c.1517C>G (p.Thr506Ser)
c.1961C>G (p.Thr654Ser)
c.1886C>G (p.Thr629Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.92607627G=CA1143513363EVI5c.1913C= (p.Thr638=)
c.1904C= (p.Thr635=)
c.*1761C= (n.*1761C=)
c.1928C= (p.Thr643=)
c.2009C= (p.Thr670=)
n.310-3828C=
c.716C= (p.Thr239=)
c.1793C= (p.Thr598=)
c.1880C= (p.Thr627=)
n.643C=
n.733C=
n.401C=
c.2132C= (p.Thr711=)
c.1985C= (p.Thr662=)
c.2032-2225C= (n.2032-2225C=)
c.1973C= (p.Thr658=)
c.1952C= (p.Thr651=)
c.2141C= (p.Thr714=)
c.2060C= (p.Thr687=)
c.1994C= (p.Thr665=)
c.1874C= (p.Thr625=)
c.1781C= (p.Thr594=)
c.1517C= (p.Thr506=)
c.1961C= (p.Thr654=)
c.1886C= (p.Thr629=)
1g.92607627G>TCA341151991EVI5c.1913C>A (p.Thr638Asn)
c.1904C>A (p.Thr635Asn)
c.*1761C>A (n.*1761C>A)
c.1928C>A (p.Thr643Asn)
c.2009C>A (p.Thr670Asn)
n.310-3828C>A
c.716C>A (p.Thr239Asn)
c.1793C>A (p.Thr598Asn)
c.1880C>A (p.Thr627Asn)
n.643C>A
n.733C>A
n.401C>A
c.2132C>A (p.Thr711Asn)
c.1985C>A (p.Thr662Asn)
c.2032-2225C>A (n.2032-2225C>A)
c.1973C>A (p.Thr658Asn)
c.1952C>A (p.Thr651Asn)
c.2141C>A (p.Thr714Asn)
c.2060C>A (p.Thr687Asn)
c.1994C>A (p.Thr665Asn)
c.1874C>A (p.Thr625Asn)
c.1781C>A (p.Thr594Asn)
c.1517C>A (p.Thr506Asn)
c.1961C>A (p.Thr654Asn)
c.1886C>A (p.Thr629Asn)
1g.92607628T>ACA341151997EVI5c.1912A>T (p.Thr638Ser)
c.1903A>T (p.Thr635Ser)
c.*1760A>T (n.*1760A>T)
c.1927A>T (p.Thr643Ser)
c.2008A>T (p.Thr670Ser)
n.310-3829A>T
c.715A>T (p.Thr239Ser)
c.1792A>T (p.Thr598Ser)
c.1879A>T (p.Thr627Ser)
n.642A>T
n.732A>T
n.400A>T
c.2131A>T (p.Thr711Ser)
c.1984A>T (p.Thr662Ser)
c.2032-2226A>T (n.2032-2226A>T)
c.1972A>T (p.Thr658Ser)
c.1951A>T (p.Thr651Ser)
c.2140A>T (p.Thr714Ser)
c.2059A>T (p.Thr687Ser)
c.1993A>T (p.Thr665Ser)
c.1873A>T (p.Thr625Ser)
c.1780A>T (p.Thr594Ser)
c.1516A>T (p.Thr506Ser)
c.1960A>T (p.Thr654Ser)
c.1885A>T (p.Thr629Ser)
1g.92607628T>CCA341151996EVI5c.1912A>G (p.Thr638Ala)
c.1903A>G (p.Thr635Ala)
c.*1760A>G (n.*1760A>G)
c.1927A>G (p.Thr643Ala)
c.2008A>G (p.Thr670Ala)
n.310-3829A>G
c.715A>G (p.Thr239Ala)
c.1792A>G (p.Thr598Ala)
c.1879A>G (p.Thr627Ala)
n.642A>G
n.732A>G
n.400A>G
c.2131A>G (p.Thr711Ala)
c.1984A>G (p.Thr662Ala)
c.2032-2226A>G (n.2032-2226A>G)
c.1972A>G (p.Thr658Ala)
c.1951A>G (p.Thr651Ala)
c.2140A>G (p.Thr714Ala)
c.2059A>G (p.Thr687Ala)
c.1993A>G (p.Thr665Ala)
c.1873A>G (p.Thr625Ala)
c.1780A>G (p.Thr594Ala)
c.1516A>G (p.Thr506Ala)
c.1960A>G (p.Thr654Ala)
c.1885A>G (p.Thr629Ala)
1g.92607628T>GCA341151994EVI5c.1912A>C (p.Thr638Pro)
c.1903A>C (p.Thr635Pro)
c.*1760A>C (n.*1760A>C)
c.1927A>C (p.Thr643Pro)
c.2008A>C (p.Thr670Pro)
n.310-3829A>C
c.715A>C (p.Thr239Pro)
c.1792A>C (p.Thr598Pro)
c.1879A>C (p.Thr627Pro)
n.642A>C
n.732A>C
n.400A>C
c.2131A>C (p.Thr711Pro)
c.1984A>C (p.Thr662Pro)
c.2032-2226A>C (n.2032-2226A>C)
c.1972A>C (p.Thr658Pro)
c.1951A>C (p.Thr651Pro)
c.2140A>C (p.Thr714Pro)
c.2059A>C (p.Thr687Pro)
c.1993A>C (p.Thr665Pro)
c.1873A>C (p.Thr625Pro)
c.1780A>C (p.Thr594Pro)
c.1516A>C (p.Thr506Pro)
c.1960A>C (p.Thr654Pro)
c.1885A>C (p.Thr629Pro)
1g.92607629A=CA1180836756EVI5c.1911T= (p.Leu637=)
c.1902T= (p.Leu634=)
c.*1759T= (n.*1759T=)
c.1926T= (p.Leu642=)
c.2007T= (p.Leu669=)
n.310-3830T=
c.714T= (p.Leu238=)
c.1791T= (p.Leu597=)
c.1878T= (p.Leu626=)
n.641T=
n.731T=
n.399T=
c.2130T= (p.Leu710=)
c.1983T= (p.Leu661=)
c.2032-2227T= (n.2032-2227T=)
c.1971T= (p.Leu657=)
c.1950T= (p.Leu650=)
c.2139T= (p.Leu713=)
c.2058T= (p.Leu686=)
c.1992T= (p.Leu664=)
c.1872T= (p.Leu624=)
c.1779T= (p.Leu593=)
c.1515T= (p.Leu505=)
c.1959T= (p.Leu653=)
c.1884T= (p.Leu628=)
1g.92607629A>CCA418958748EVI5c.1911T>G (p.Leu637=)
c.1902T>G (p.Leu634=)
c.*1759T>G (n.*1759T>G)
c.1926T>G (p.Leu642=)
c.2007T>G (p.Leu669=)
n.310-3830T>G
c.714T>G (p.Leu238=)
c.1791T>G (p.Leu597=)
c.1878T>G (p.Leu626=)
n.641T>G
n.731T>G
n.399T>G
c.2130T>G (p.Leu710=)
c.1983T>G (p.Leu661=)
c.2032-2227T>G (n.2032-2227T>G)
c.1971T>G (p.Leu657=)
c.1950T>G (p.Leu650=)
c.2139T>G (p.Leu713=)
c.2058T>G (p.Leu686=)
c.1992T>G (p.Leu664=)
c.1872T>G (p.Leu624=)
c.1779T>G (p.Leu593=)
c.1515T>G (p.Leu505=)
c.1959T>G (p.Leu653=)
c.1884T>G (p.Leu628=)
1g.92607629A>GCA418958751EVI5c.1911T>C (p.Leu637=)
c.1902T>C (p.Leu634=)
c.*1759T>C (n.*1759T>C)
c.1926T>C (p.Leu642=)
c.2007T>C (p.Leu669=)
n.310-3830T>C
c.714T>C (p.Leu238=)
c.1791T>C (p.Leu597=)
c.1878T>C (p.Leu626=)
n.641T>C
n.731T>C
n.399T>C
c.2130T>C (p.Leu710=)
c.1983T>C (p.Leu661=)
c.2032-2227T>C (n.2032-2227T>C)
c.1971T>C (p.Leu657=)
c.1950T>C (p.Leu650=)
c.2139T>C (p.Leu713=)
c.2058T>C (p.Leu686=)
c.1992T>C (p.Leu664=)
c.1872T>C (p.Leu624=)
c.1779T>C (p.Leu593=)
c.1515T>C (p.Leu505=)
c.1959T>C (p.Leu653=)
c.1884T>C (p.Leu628=)
 dbSNP gnomAD v4
1g.92607629A>TCA418958753EVI5c.1911T>A (p.Leu637=)
c.1902T>A (p.Leu634=)
c.*1759T>A (n.*1759T>A)
c.1926T>A (p.Leu642=)
c.2007T>A (p.Leu669=)
n.310-3830T>A
c.714T>A (p.Leu238=)
c.1791T>A (p.Leu597=)
c.1878T>A (p.Leu626=)
n.641T>A
n.731T>A
n.399T>A
c.2130T>A (p.Leu710=)
c.1983T>A (p.Leu661=)
c.2032-2227T>A (n.2032-2227T>A)
c.1971T>A (p.Leu657=)
c.1950T>A (p.Leu650=)
c.2139T>A (p.Leu713=)
c.2058T>A (p.Leu686=)
c.1992T>A (p.Leu664=)
c.1872T>A (p.Leu624=)
c.1779T>A (p.Leu593=)
c.1515T>A (p.Leu505=)
c.1959T>A (p.Leu653=)
c.1884T>A (p.Leu628=)
1g.92607630A>CCA341152000EVI5c.1910T>G (p.Leu637Arg)
c.1901T>G (p.Leu634Arg)
c.*1758T>G (n.*1758T>G)
c.1925T>G (p.Leu642Arg)
c.2006T>G (p.Leu669Arg)
n.310-3831T>G
c.713T>G (p.Leu238Arg)
c.1790T>G (p.Leu597Arg)
c.1877T>G (p.Leu626Arg)
n.640T>G
n.730T>G
n.398T>G
c.2129T>G (p.Leu710Arg)
c.1982T>G (p.Leu661Arg)
c.2032-2228T>G (n.2032-2228T>G)
c.1970T>G (p.Leu657Arg)
c.1949T>G (p.Leu650Arg)
c.2138T>G (p.Leu713Arg)
c.2057T>G (p.Leu686Arg)
c.1991T>G (p.Leu664Arg)
c.1871T>G (p.Leu624Arg)
c.1778T>G (p.Leu593Arg)
c.1514T>G (p.Leu505Arg)
c.1958T>G (p.Leu653Arg)
c.1883T>G (p.Leu628Arg)
1g.92607630A>GCA341152001EVI5c.1910T>C (p.Leu637Pro)
c.1901T>C (p.Leu634Pro)
c.*1758T>C (n.*1758T>C)
c.1925T>C (p.Leu642Pro)
c.2006T>C (p.Leu669Pro)
n.310-3831T>C
c.713T>C (p.Leu238Pro)
c.1790T>C (p.Leu597Pro)
c.1877T>C (p.Leu626Pro)
n.640T>C
n.730T>C
n.398T>C
c.2129T>C (p.Leu710Pro)
c.1982T>C (p.Leu661Pro)
c.2032-2228T>C (n.2032-2228T>C)
c.1970T>C (p.Leu657Pro)
c.1949T>C (p.Leu650Pro)
c.2138T>C (p.Leu713Pro)
c.2057T>C (p.Leu686Pro)
c.1991T>C (p.Leu664Pro)
c.1871T>C (p.Leu624Pro)
c.1778T>C (p.Leu593Pro)
c.1514T>C (p.Leu505Pro)
c.1958T>C (p.Leu653Pro)
c.1883T>C (p.Leu628Pro)
1g.92607630A>TCA341152003EVI5c.1910T>A (p.Leu637His)
c.1901T>A (p.Leu634His)
c.*1758T>A (n.*1758T>A)
c.1925T>A (p.Leu642His)
c.2006T>A (p.Leu669His)
n.310-3831T>A
c.713T>A (p.Leu238His)
c.1790T>A (p.Leu597His)
c.1877T>A (p.Leu626His)
n.640T>A
n.730T>A
n.398T>A
c.2129T>A (p.Leu710His)
c.1982T>A (p.Leu661His)
c.2032-2228T>A (n.2032-2228T>A)
c.1970T>A (p.Leu657His)
c.1949T>A (p.Leu650His)
c.2138T>A (p.Leu713His)
c.2057T>A (p.Leu686His)
c.1991T>A (p.Leu664His)
c.1871T>A (p.Leu624His)
c.1778T>A (p.Leu593His)
c.1514T>A (p.Leu505His)
c.1958T>A (p.Leu653His)
c.1883T>A (p.Leu628His)
1g.92607630_92607631delCA2646588507EVI5c.1909_1910del (p.Leu637TyrfsTer5)
c.1900_1901del (p.Leu634TyrfsTer5)
c.*1757_*1758del (n.*1757_*1758del)
c.1924_1925del (p.Leu642TyrfsTer5)
c.2005_2006del (p.Leu669TyrfsTer5)
n.310-3832_310-3831del
c.712_713del (p.Leu238TyrfsTer5)
c.1789_1790del (p.Leu597TyrfsTer5)
c.1876_1877del (p.Leu626TyrfsTer5)
n.639_640del
n.729_730del
n.397_398del
c.2128_2129del (p.Leu710TyrfsTer5)
c.1981_1982del (p.Leu661TyrfsTer5)
c.2032-2229_2032-2228del (n.2032-2229_2032-2228del)
c.1969_1970del (p.Leu657TyrfsTer5)
c.1948_1949del (p.Leu650TyrfsTer5)
c.2137_2138del (p.Leu713TyrfsTer5)
c.2056_2057del (p.Leu686TyrfsTer5)
c.1990_1991del (p.Leu664TyrfsTer5)
c.1870_1871del (p.Leu624TyrfsTer5)
c.1777_1778del (p.Leu593TyrfsTer5)
c.1513_1514del (p.Leu505TyrfsTer5)
c.1957_1958del (p.Leu653TyrfsTer5)
c.1882_1883del (p.Leu628TyrfsTer5)
 gnomAD v4
1g.92607632_92607634dupCA1180836758EVI5c.1908_1910dup (p.Leu637_Thr638insLeu)
c.1899_1901dup (p.Leu634_Thr635insLeu)
c.*1756_*1758dup (n.*1756_*1758dup)
c.1923_1925dup (p.Leu642_Thr643insLeu)
c.2004_2006dup (p.Leu669_Thr670insLeu)
n.310-3833_310-3831dup
c.711_713dup (p.Leu238_Thr239insLeu)
c.1788_1790dup (p.Leu597_Thr598insLeu)
c.1875_1877dup (p.Leu626_Thr627insLeu)
n.638_640dup
n.728_730dup
n.396_398dup
c.2127_2129dup (p.Leu710_Thr711insLeu)
c.1980_1982dup (p.Leu661_Thr662insLeu)
c.2032-2230_2032-2228dup (n.2032-2230_2032-2228dup)
c.1968_1970dup (p.Leu657_Thr658insLeu)
c.1947_1949dup (p.Leu650_Thr651insLeu)
c.2136_2138dup (p.Leu713_Thr714insLeu)
c.2055_2057dup (p.Leu686_Thr687insLeu)
c.1989_1991dup (p.Leu664_Thr665insLeu)
c.1869_1871dup (p.Leu624_Thr625insLeu)
c.1776_1778dup (p.Leu593_Thr594insLeu)
c.1512_1514dup (p.Leu505_Thr506insLeu)
c.1956_1958dup (p.Leu653_Thr654insLeu)
c.1881_1883dup (p.Leu628_Thr629insLeu)
 dbSNP
1g.92607631G>ACA341152004EVI5c.1909C>T (p.Leu637Phe)
c.1900C>T (p.Leu634Phe)
c.*1757C>T (n.*1757C>T)
c.1924C>T (p.Leu642Phe)
c.2005C>T (p.Leu669Phe)
n.310-3832C>T
c.712C>T (p.Leu238Phe)
c.1789C>T (p.Leu597Phe)
c.1876C>T (p.Leu626Phe)
n.639C>T
n.729C>T
n.397C>T
c.2128C>T (p.Leu710Phe)
c.1981C>T (p.Leu661Phe)
c.2032-2229C>T (n.2032-2229C>T)
c.1969C>T (p.Leu657Phe)
c.1948C>T (p.Leu650Phe)
c.2137C>T (p.Leu713Phe)
c.2056C>T (p.Leu686Phe)
c.1990C>T (p.Leu664Phe)
c.1870C>T (p.Leu624Phe)
c.1777C>T (p.Leu593Phe)
c.1513C>T (p.Leu505Phe)
c.1957C>T (p.Leu653Phe)
c.1882C>T (p.Leu628Phe)
1g.92607631G>CCA341152006EVI5c.1909C>G (p.Leu637Val)
c.1900C>G (p.Leu634Val)
c.*1757C>G (n.*1757C>G)
c.1924C>G (p.Leu642Val)
c.2005C>G (p.Leu669Val)
n.310-3832C>G
c.712C>G (p.Leu238Val)
c.1789C>G (p.Leu597Val)
c.1876C>G (p.Leu626Val)
n.639C>G
n.729C>G
n.397C>G
c.2128C>G (p.Leu710Val)
c.1981C>G (p.Leu661Val)
c.2032-2229C>G (n.2032-2229C>G)
c.1969C>G (p.Leu657Val)
c.1948C>G (p.Leu650Val)
c.2137C>G (p.Leu713Val)
c.2056C>G (p.Leu686Val)
c.1990C>G (p.Leu664Val)
c.1870C>G (p.Leu624Val)
c.1777C>G (p.Leu593Val)
c.1513C>G (p.Leu505Val)
c.1957C>G (p.Leu653Val)
c.1882C>G (p.Leu628Val)
1g.92607631G>TCA341152008EVI5c.1909C>A (p.Leu637Ile)
c.1900C>A (p.Leu634Ile)
c.*1757C>A (n.*1757C>A)
c.1924C>A (p.Leu642Ile)
c.2005C>A (p.Leu669Ile)
n.310-3832C>A
c.712C>A (p.Leu238Ile)
c.1789C>A (p.Leu597Ile)
c.1876C>A (p.Leu626Ile)
n.639C>A
n.729C>A
n.397C>A
c.2128C>A (p.Leu710Ile)
c.1981C>A (p.Leu661Ile)
c.2032-2229C>A (n.2032-2229C>A)
c.1969C>A (p.Leu657Ile)
c.1948C>A (p.Leu650Ile)
c.2137C>A (p.Leu713Ile)
c.2056C>A (p.Leu686Ile)
c.1990C>A (p.Leu664Ile)
c.1870C>A (p.Leu624Ile)
c.1777C>A (p.Leu593Ile)
c.1513C>A (p.Leu505Ile)
c.1957C>A (p.Leu653Ile)
c.1882C>A (p.Leu628Ile)
 gnomAD v4
1g.92607632G>ACA418958767EVI5c.1908C>T (p.Leu636=)
c.1899C>T (p.Leu633=)
c.*1756C>T (n.*1756C>T)
c.1923C>T (p.Leu641=)
c.2004C>T (p.Leu668=)
n.310-3833C>T
c.711C>T (p.Leu237=)
c.1788C>T (p.Leu596=)
c.1875C>T (p.Leu625=)
n.638C>T
n.728C>T
n.396C>T
c.2127C>T (p.Leu709=)
c.1980C>T (p.Leu660=)
c.2032-2230C>T (n.2032-2230C>T)
c.1968C>T (p.Leu656=)
c.1947C>T (p.Leu649=)
c.2136C>T (p.Leu712=)
c.2055C>T (p.Leu685=)
c.1989C>T (p.Leu663=)
c.1869C>T (p.Leu623=)
c.1776C>T (p.Leu592=)
c.1512C>T (p.Leu504=)
c.1956C>T (p.Leu652=)
c.1881C>T (p.Leu627=)
1g.92607632G>CCA418958769EVI5c.1908C>G (p.Leu636=)
c.1899C>G (p.Leu633=)
c.*1756C>G (n.*1756C>G)
c.1923C>G (p.Leu641=)
c.2004C>G (p.Leu668=)
n.310-3833C>G
c.711C>G (p.Leu237=)
c.1788C>G (p.Leu596=)
c.1875C>G (p.Leu625=)
n.638C>G
n.728C>G
n.396C>G
c.2127C>G (p.Leu709=)
c.1980C>G (p.Leu660=)
c.2032-2230C>G (n.2032-2230C>G)
c.1968C>G (p.Leu656=)
c.1947C>G (p.Leu649=)
c.2136C>G (p.Leu712=)
c.2055C>G (p.Leu685=)
c.1989C>G (p.Leu663=)
c.1869C>G (p.Leu623=)
c.1776C>G (p.Leu592=)
c.1512C>G (p.Leu504=)
c.1956C>G (p.Leu652=)
c.1881C>G (p.Leu627=)
1g.92607632G=CA1180836760EVI5c.1908C= (p.Leu636=)
c.1899C= (p.Leu633=)
c.*1756C= (n.*1756C=)
c.1923C= (p.Leu641=)
c.2004C= (p.Leu668=)
n.310-3833C=
c.711C= (p.Leu237=)
c.1788C= (p.Leu596=)
c.1875C= (p.Leu625=)
n.638C=
n.728C=
n.396C=
c.2127C= (p.Leu709=)
c.1980C= (p.Leu660=)
c.2032-2230C= (n.2032-2230C=)
c.1968C= (p.Leu656=)
c.1947C= (p.Leu649=)
c.2136C= (p.Leu712=)
c.2055C= (p.Leu685=)
c.1989C= (p.Leu663=)
c.1869C= (p.Leu623=)
c.1776C= (p.Leu592=)
c.1512C= (p.Leu504=)
c.1956C= (p.Leu652=)
c.1881C= (p.Leu627=)
1g.92607632G>TCA418958765EVI5c.1908C>A (p.Leu636=)
c.1899C>A (p.Leu633=)
c.*1756C>A (n.*1756C>A)
c.1923C>A (p.Leu641=)
c.2004C>A (p.Leu668=)
n.310-3833C>A
c.711C>A (p.Leu237=)
c.1788C>A (p.Leu596=)
c.1875C>A (p.Leu625=)
n.638C>A
n.728C>A
n.396C>A
c.2127C>A (p.Leu709=)
c.1980C>A (p.Leu660=)
c.2032-2230C>A (n.2032-2230C>A)
c.1968C>A (p.Leu656=)
c.1947C>A (p.Leu649=)
c.2136C>A (p.Leu712=)
c.2055C>A (p.Leu685=)
c.1989C>A (p.Leu663=)
c.1869C>A (p.Leu623=)
c.1776C>A (p.Leu592=)
c.1512C>A (p.Leu504=)
c.1956C>A (p.Leu652=)
c.1881C>A (p.Leu627=)
 dbSNP
1g.92607633A=CA1180836762EVI5c.1907T= (p.Leu636=)
c.1898T= (p.Leu633=)
c.*1755T= (n.*1755T=)
c.1922T= (p.Leu641=)
c.2003T= (p.Leu668=)
n.310-3834T=
c.710T= (p.Leu237=)
c.1787T= (p.Leu596=)
c.1874T= (p.Leu625=)
n.637T=
n.727T=
n.395T=
c.2126T= (p.Leu709=)
c.1979T= (p.Leu660=)
c.2032-2231T= (n.2032-2231T=)
c.1967T= (p.Leu656=)
c.1946T= (p.Leu649=)
c.2135T= (p.Leu712=)
c.2054T= (p.Leu685=)
c.1988T= (p.Leu663=)
c.1868T= (p.Leu623=)
c.1775T= (p.Leu592=)
c.1511T= (p.Leu504=)
c.1955T= (p.Leu652=)
c.1880T= (p.Leu627=)
1g.92607633A>CCA341152010EVI5c.1907T>G (p.Leu636Arg)
c.1898T>G (p.Leu633Arg)
c.*1755T>G (n.*1755T>G)
c.1922T>G (p.Leu641Arg)
c.2003T>G (p.Leu668Arg)
n.310-3834T>G
c.710T>G (p.Leu237Arg)
c.1787T>G (p.Leu596Arg)
c.1874T>G (p.Leu625Arg)
n.637T>G
n.727T>G
n.395T>G
c.2126T>G (p.Leu709Arg)
c.1979T>G (p.Leu660Arg)
c.2032-2231T>G (n.2032-2231T>G)
c.1967T>G (p.Leu656Arg)
c.1946T>G (p.Leu649Arg)
c.2135T>G (p.Leu712Arg)
c.2054T>G (p.Leu685Arg)
c.1988T>G (p.Leu663Arg)
c.1868T>G (p.Leu623Arg)
c.1775T>G (p.Leu592Arg)
c.1511T>G (p.Leu504Arg)
c.1955T>G (p.Leu652Arg)
c.1880T>G (p.Leu627Arg)
1g.92607633A>GCA951686EVI5c.1907T>C (p.Leu636Pro)
c.1898T>C (p.Leu633Pro)
c.*1755T>C (n.*1755T>C)
c.1922T>C (p.Leu641Pro)
c.2003T>C (p.Leu668Pro)
n.310-3834T>C
c.710T>C (p.Leu237Pro)
c.1787T>C (p.Leu596Pro)
c.1874T>C (p.Leu625Pro)
n.637T>C
n.727T>C
n.395T>C
c.2126T>C (p.Leu709Pro)
c.1979T>C (p.Leu660Pro)
c.2032-2231T>C (n.2032-2231T>C)
c.1967T>C (p.Leu656Pro)
c.1946T>C (p.Leu649Pro)
c.2135T>C (p.Leu712Pro)
c.2054T>C (p.Leu685Pro)
c.1988T>C (p.Leu663Pro)
c.1868T>C (p.Leu623Pro)
c.1775T>C (p.Leu592Pro)
c.1511T>C (p.Leu504Pro)
c.1955T>C (p.Leu652Pro)
c.1880T>C (p.Leu627Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.92607633A>TCA341152012EVI5c.1907T>A (p.Leu636His)
c.1898T>A (p.Leu633His)
c.*1755T>A (n.*1755T>A)
c.1922T>A (p.Leu641His)
c.2003T>A (p.Leu668His)
n.310-3834T>A
c.710T>A (p.Leu237His)
c.1787T>A (p.Leu596His)
c.1874T>A (p.Leu625His)
n.637T>A
n.727T>A
n.395T>A
c.2126T>A (p.Leu709His)
c.1979T>A (p.Leu660His)
c.2032-2231T>A (n.2032-2231T>A)
c.1967T>A (p.Leu656His)
c.1946T>A (p.Leu649His)
c.2135T>A (p.Leu712His)
c.2054T>A (p.Leu685His)
c.1988T>A (p.Leu663His)
c.1868T>A (p.Leu623His)
c.1775T>A (p.Leu592His)
c.1511T>A (p.Leu504His)
c.1955T>A (p.Leu652His)
c.1880T>A (p.Leu627His)
1g.92607634G>ACA341152014EVI5c.1906C>T (p.Leu636Phe)
c.1897C>T (p.Leu633Phe)
c.*1754C>T (n.*1754C>T)
c.1921C>T (p.Leu641Phe)
c.2002C>T (p.Leu668Phe)
n.310-3835C>T
c.709C>T (p.Leu237Phe)
c.1786C>T (p.Leu596Phe)
c.1873C>T (p.Leu625Phe)
n.636C>T
n.726C>T
n.394C>T
c.2125C>T (p.Leu709Phe)
c.1978C>T (p.Leu660Phe)
c.2032-2232C>T (n.2032-2232C>T)
c.1966C>T (p.Leu656Phe)
c.1945C>T (p.Leu649Phe)
c.2134C>T (p.Leu712Phe)
c.2053C>T (p.Leu685Phe)
c.1987C>T (p.Leu663Phe)
c.1867C>T (p.Leu623Phe)
c.1774C>T (p.Leu592Phe)
c.1510C>T (p.Leu504Phe)
c.1954C>T (p.Leu652Phe)
c.1879C>T (p.Leu627Phe)
 gnomAD v4
1g.92607634G>CCA341152016EVI5c.1906C>G (p.Leu636Val)
c.1897C>G (p.Leu633Val)
c.*1754C>G (n.*1754C>G)
c.1921C>G (p.Leu641Val)
c.2002C>G (p.Leu668Val)
n.310-3835C>G
c.709C>G (p.Leu237Val)
c.1786C>G (p.Leu596Val)
c.1873C>G (p.Leu625Val)
n.636C>G
n.726C>G
n.394C>G
c.2125C>G (p.Leu709Val)
c.1978C>G (p.Leu660Val)
c.2032-2232C>G (n.2032-2232C>G)
c.1966C>G (p.Leu656Val)
c.1945C>G (p.Leu649Val)
c.2134C>G (p.Leu712Val)
c.2053C>G (p.Leu685Val)
c.1987C>G (p.Leu663Val)
c.1867C>G (p.Leu623Val)
c.1774C>G (p.Leu592Val)
c.1510C>G (p.Leu504Val)
c.1954C>G (p.Leu652Val)
c.1879C>G (p.Leu627Val)
 gnomAD v4
1g.92607634G>TCA341152018EVI5c.1906C>A (p.Leu636Ile)
c.1897C>A (p.Leu633Ile)
c.*1754C>A (n.*1754C>A)
c.1921C>A (p.Leu641Ile)
c.2002C>A (p.Leu668Ile)
n.310-3835C>A
c.709C>A (p.Leu237Ile)
c.1786C>A (p.Leu596Ile)
c.1873C>A (p.Leu625Ile)
n.636C>A
n.726C>A
n.394C>A
c.2125C>A (p.Leu709Ile)
c.1978C>A (p.Leu660Ile)
c.2032-2232C>A (n.2032-2232C>A)
c.1966C>A (p.Leu656Ile)
c.1945C>A (p.Leu649Ile)
c.2134C>A (p.Leu712Ile)
c.2053C>A (p.Leu685Ile)
c.1987C>A (p.Leu663Ile)
c.1867C>A (p.Leu623Ile)
c.1774C>A (p.Leu592Ile)
c.1510C>A (p.Leu504Ile)
c.1954C>A (p.Leu652Ile)
c.1879C>A (p.Leu627Ile)
 gnomAD v4
1g.92607635T>ACA418958779EVI5c.1905A>T (p.Gly635=)
c.1896A>T (p.Gly632=)
c.*1753A>T (n.*1753A>T)
c.1920A>T (p.Gly640=)
c.2001A>T (p.Gly667=)
n.310-3836A>T
c.708A>T (p.Gly236=)
c.1785A>T (p.Gly595=)
c.1872A>T (p.Gly624=)
n.635A>T
n.725A>T
n.393A>T
c.2124A>T (p.Gly708=)
c.1977A>T (p.Gly659=)
c.2032-2233A>T (n.2032-2233A>T)
c.1965A>T (p.Gly655=)
c.1944A>T (p.Gly648=)
c.2133A>T (p.Gly711=)
c.2052A>T (p.Gly684=)
c.1986A>T (p.Gly662=)
c.1866A>T (p.Gly622=)
c.1773A>T (p.Gly591=)
c.1509A>T (p.Gly503=)
c.1953A>T (p.Gly651=)
c.1878A>T (p.Gly626=)
 gnomAD v4
1g.92607635T>CCA418958787EVI5c.1905A>G (p.Gly635=)
c.1896A>G (p.Gly632=)
c.*1753A>G (n.*1753A>G)
c.1920A>G (p.Gly640=)
c.2001A>G (p.Gly667=)
n.310-3836A>G
c.708A>G (p.Gly236=)
c.1785A>G (p.Gly595=)
c.1872A>G (p.Gly624=)
n.635A>G
n.725A>G
n.393A>G
c.2124A>G (p.Gly708=)
c.1977A>G (p.Gly659=)
c.2032-2233A>G (n.2032-2233A>G)
c.1965A>G (p.Gly655=)
c.1944A>G (p.Gly648=)
c.2133A>G (p.Gly711=)
c.2052A>G (p.Gly684=)
c.1986A>G (p.Gly662=)
c.1866A>G (p.Gly622=)
c.1773A>G (p.Gly591=)
c.1509A>G (p.Gly503=)
c.1953A>G (p.Gly651=)
c.1878A>G (p.Gly626=)
 gnomAD v4
1g.92607635T>GCA418958789EVI5c.1905A>C (p.Gly635=)
c.1896A>C (p.Gly632=)
c.*1753A>C (n.*1753A>C)
c.1920A>C (p.Gly640=)
c.2001A>C (p.Gly667=)
n.310-3836A>C
c.708A>C (p.Gly236=)
c.1785A>C (p.Gly595=)
c.1872A>C (p.Gly624=)
n.635A>C
n.725A>C
n.393A>C
c.2124A>C (p.Gly708=)
c.1977A>C (p.Gly659=)
c.2032-2233A>C (n.2032-2233A>C)
c.1965A>C (p.Gly655=)
c.1944A>C (p.Gly648=)
c.2133A>C (p.Gly711=)
c.2052A>C (p.Gly684=)
c.1986A>C (p.Gly662=)
c.1866A>C (p.Gly622=)
c.1773A>C (p.Gly591=)
c.1509A>C (p.Gly503=)
c.1953A>C (p.Gly651=)
c.1878A>C (p.Gly626=)
1g.92607636C>ACA341152023EVI5c.1904G>T (p.Gly635Val)
c.1895G>T (p.Gly632Val)
c.*1752G>T (n.*1752G>T)
c.1919G>T (p.Gly640Val)
c.2000G>T (p.Gly667Val)
n.310-3837G>T
c.707G>T (p.Gly236Val)
c.1784G>T (p.Gly595Val)
c.1871G>T (p.Gly624Val)
n.634G>T
n.724G>T
n.392G>T
c.2123G>T (p.Gly708Val)
c.1976G>T (p.Gly659Val)
c.2032-2234G>T (n.2032-2234G>T)
c.1964G>T (p.Gly655Val)
c.1943G>T (p.Gly648Val)
c.2132G>T (p.Gly711Val)
c.2051G>T (p.Gly684Val)
c.1985G>T (p.Gly662Val)
c.1865G>T (p.Gly622Val)
c.1772G>T (p.Gly591Val)
c.1508G>T (p.Gly503Val)
c.1952G>T (p.Gly651Val)
c.1877G>T (p.Gly626Val)
1g.92607636C>GCA341152021EVI5c.1904G>C (p.Gly635Ala)
c.1895G>C (p.Gly632Ala)
c.*1752G>C (n.*1752G>C)
c.1919G>C (p.Gly640Ala)
c.2000G>C (p.Gly667Ala)
n.310-3837G>C
c.707G>C (p.Gly236Ala)
c.1784G>C (p.Gly595Ala)
c.1871G>C (p.Gly624Ala)
n.634G>C
n.724G>C
n.392G>C
c.2123G>C (p.Gly708Ala)
c.1976G>C (p.Gly659Ala)
c.2032-2234G>C (n.2032-2234G>C)
c.1964G>C (p.Gly655Ala)
c.1943G>C (p.Gly648Ala)
c.2132G>C (p.Gly711Ala)
c.2051G>C (p.Gly684Ala)
c.1985G>C (p.Gly662Ala)
c.1865G>C (p.Gly622Ala)
c.1772G>C (p.Gly591Ala)
c.1508G>C (p.Gly503Ala)
c.1952G>C (p.Gly651Ala)
c.1877G>C (p.Gly626Ala)
1g.92607636C>TCA341152019EVI5c.1904G>A (p.Gly635Glu)
c.1895G>A (p.Gly632Glu)
c.*1752G>A (n.*1752G>A)
c.1919G>A (p.Gly640Glu)
c.2000G>A (p.Gly667Glu)
n.310-3837G>A
c.707G>A (p.Gly236Glu)
c.1784G>A (p.Gly595Glu)
c.1871G>A (p.Gly624Glu)
n.634G>A
n.724G>A
n.392G>A
c.2123G>A (p.Gly708Glu)
c.1976G>A (p.Gly659Glu)
c.2032-2234G>A (n.2032-2234G>A)
c.1964G>A (p.Gly655Glu)
c.1943G>A (p.Gly648Glu)
c.2132G>A (p.Gly711Glu)
c.2051G>A (p.Gly684Glu)
c.1985G>A (p.Gly662Glu)
c.1865G>A (p.Gly622Glu)
c.1772G>A (p.Gly591Glu)
c.1508G>A (p.Gly503Glu)
c.1952G>A (p.Gly651Glu)
c.1877G>A (p.Gly626Glu)
1g.92607637C>ACA341152025EVI5c.1903G>T (p.Gly635Ter)
c.1894G>T (p.Gly632Ter)
c.*1751G>T (n.*1751G>T)
c.1918G>T (p.Gly640Ter)
c.1999G>T (p.Gly667Ter)
n.310-3838G>T
c.706G>T (p.Gly236Ter)
c.1783G>T (p.Gly595Ter)
c.1870G>T (p.Gly624Ter)
n.633G>T
n.723G>T
n.391G>T
c.2122G>T (p.Gly708Ter)
c.1975G>T (p.Gly659Ter)
c.2032-2235G>T (n.2032-2235G>T)
c.1963G>T (p.Gly655Ter)
c.1942G>T (p.Gly648Ter)
c.2131G>T (p.Gly711Ter)
c.2050G>T (p.Gly684Ter)
c.1984G>T (p.Gly662Ter)
c.1864G>T (p.Gly622Ter)
c.1771G>T (p.Gly591Ter)
c.1507G>T (p.Gly503Ter)
c.1951G>T (p.Gly651Ter)
c.1876G>T (p.Gly626Ter)
1g.92607637C=CA1180836765EVI5c.1903G= (p.Gly635=)
c.1894G= (p.Gly632=)
c.*1751G= (n.*1751G=)
c.1918G= (p.Gly640=)
c.1999G= (p.Gly667=)
n.310-3838G=
c.706G= (p.Gly236=)
c.1783G= (p.Gly595=)
c.1870G= (p.Gly624=)
n.633G=
n.723G=
n.391G=
c.2122G= (p.Gly708=)
c.1975G= (p.Gly659=)
c.2032-2235G= (n.2032-2235G=)
c.1963G= (p.Gly655=)
c.1942G= (p.Gly648=)
c.2131G= (p.Gly711=)
c.2050G= (p.Gly684=)
c.1984G= (p.Gly662=)
c.1864G= (p.Gly622=)
c.1771G= (p.Gly591=)
c.1507G= (p.Gly503=)
c.1951G= (p.Gly651=)
c.1876G= (p.Gly626=)
1g.92607637C>GCA341152026EVI5c.1903G>C (p.Gly635Arg)
c.1894G>C (p.Gly632Arg)
c.*1751G>C (n.*1751G>C)
c.1918G>C (p.Gly640Arg)
c.1999G>C (p.Gly667Arg)
n.310-3838G>C
c.706G>C (p.Gly236Arg)
c.1783G>C (p.Gly595Arg)
c.1870G>C (p.Gly624Arg)
n.633G>C
n.723G>C
n.391G>C
c.2122G>C (p.Gly708Arg)
c.1975G>C (p.Gly659Arg)
c.2032-2235G>C (n.2032-2235G>C)
c.1963G>C (p.Gly655Arg)
c.1942G>C (p.Gly648Arg)
c.2131G>C (p.Gly711Arg)
c.2050G>C (p.Gly684Arg)
c.1984G>C (p.Gly662Arg)
c.1864G>C (p.Gly622Arg)
c.1771G>C (p.Gly591Arg)
c.1507G>C (p.Gly503Arg)
c.1951G>C (p.Gly651Arg)
c.1876G>C (p.Gly626Arg)
1g.92607637C>TCA341152029EVI5c.1903G>A (p.Gly635Arg)
c.1894G>A (p.Gly632Arg)
c.*1751G>A (n.*1751G>A)
c.1918G>A (p.Gly640Arg)
c.1999G>A (p.Gly667Arg)
n.310-3838G>A
c.706G>A (p.Gly236Arg)
c.1783G>A (p.Gly595Arg)
c.1870G>A (p.Gly624Arg)
n.633G>A
n.723G>A
n.391G>A
c.2122G>A (p.Gly708Arg)
c.1975G>A (p.Gly659Arg)
c.2032-2235G>A (n.2032-2235G>A)
c.1963G>A (p.Gly655Arg)
c.1942G>A (p.Gly648Arg)
c.2131G>A (p.Gly711Arg)
c.2050G>A (p.Gly684Arg)
c.1984G>A (p.Gly662Arg)
c.1864G>A (p.Gly622Arg)
c.1771G>A (p.Gly591Arg)
c.1507G>A (p.Gly503Arg)
c.1951G>A (p.Gly651Arg)
c.1876G>A (p.Gly626Arg)
 dbSNP
1g.92607638T>ACA341152031EVI5c.1902A>T (p.Lys634Asn)
c.1893A>T (p.Lys631Asn)
c.*1750A>T (n.*1750A>T)
c.1917A>T (p.Lys639Asn)
c.1998A>T (p.Lys666Asn)
n.310-3839A>T
c.705A>T (p.Lys235Asn)
c.1782A>T (p.Lys594Asn)
c.1869A>T (p.Lys623Asn)
n.632A>T
n.722A>T
n.390A>T
c.2121A>T (p.Lys707Asn)
c.1974A>T (p.Lys658Asn)
c.2032-2236A>T (n.2032-2236A>T)
c.1962A>T (p.Lys654Asn)
c.1941A>T (p.Lys647Asn)
c.2130A>T (p.Lys710Asn)
c.2049A>T (p.Lys683Asn)
c.1983A>T (p.Lys661Asn)
c.1863A>T (p.Lys621Asn)
c.1770A>T (p.Lys590Asn)
c.1506A>T (p.Lys502Asn)
c.1950A>T (p.Lys650Asn)
c.1875A>T (p.Lys625Asn)
1g.92607638T>CCA418958804EVI5c.1902A>G (p.Lys634=)
c.1893A>G (p.Lys631=)
c.*1750A>G (n.*1750A>G)
c.1917A>G (p.Lys639=)
c.1998A>G (p.Lys666=)
n.310-3839A>G
c.705A>G (p.Lys235=)
c.1782A>G (p.Lys594=)
c.1869A>G (p.Lys623=)
n.632A>G
n.722A>G
n.390A>G
c.2121A>G (p.Lys707=)
c.1974A>G (p.Lys658=)
c.2032-2236A>G (n.2032-2236A>G)
c.1962A>G (p.Lys654=)
c.1941A>G (p.Lys647=)
c.2130A>G (p.Lys710=)
c.2049A>G (p.Lys683=)
c.1983A>G (p.Lys661=)
c.1863A>G (p.Lys621=)
c.1770A>G (p.Lys590=)
c.1506A>G (p.Lys502=)
c.1950A>G (p.Lys650=)
c.1875A>G (p.Lys625=)
 dbSNP gnomAD v2 gnomAD v4
1g.92607638T>GCA341152033EVI5c.1902A>C (p.Lys634Asn)
c.1893A>C (p.Lys631Asn)
c.*1750A>C (n.*1750A>C)
c.1917A>C (p.Lys639Asn)
c.1998A>C (p.Lys666Asn)
n.310-3839A>C
c.705A>C (p.Lys235Asn)
c.1782A>C (p.Lys594Asn)
c.1869A>C (p.Lys623Asn)
n.632A>C
n.722A>C
n.390A>C
c.2121A>C (p.Lys707Asn)
c.1974A>C (p.Lys658Asn)
c.2032-2236A>C (n.2032-2236A>C)
c.1962A>C (p.Lys654Asn)
c.1941A>C (p.Lys647Asn)
c.2130A>C (p.Lys710Asn)
c.2049A>C (p.Lys683Asn)
c.1983A>C (p.Lys661Asn)
c.1863A>C (p.Lys621Asn)
c.1770A>C (p.Lys590Asn)
c.1506A>C (p.Lys502Asn)
c.1950A>C (p.Lys650Asn)
c.1875A>C (p.Lys625Asn)
1g.92607638T=CA1180836769EVI5c.1902A= (p.Lys634=)
c.1893A= (p.Lys631=)
c.*1750A= (n.*1750A=)
c.1917A= (p.Lys639=)
c.1998A= (p.Lys666=)
n.310-3839A=
c.705A= (p.Lys235=)
c.1782A= (p.Lys594=)
c.1869A= (p.Lys623=)
n.632A=
n.722A=
n.390A=
c.2121A= (p.Lys707=)
c.1974A= (p.Lys658=)
c.2032-2236A= (n.2032-2236A=)
c.1962A= (p.Lys654=)
c.1941A= (p.Lys647=)
c.2130A= (p.Lys710=)
c.2049A= (p.Lys683=)
c.1983A= (p.Lys661=)
c.1863A= (p.Lys621=)
c.1770A= (p.Lys590=)
c.1506A= (p.Lys502=)
c.1950A= (p.Lys650=)
c.1875A= (p.Lys625=)
1g.92607640delCA2646588508EVI5c.1902del (p.Gly635AspfsTer6)
c.1893del (p.Gly632AspfsTer6)
c.*1750del (n.*1750del)
c.1917del (p.Gly640AspfsTer6)
c.1998del (p.Gly667AspfsTer6)
n.310-3839del
c.705del (p.Gly236AspfsTer6)
c.1782del (p.Gly595AspfsTer6)
c.1869del (p.Gly624AspfsTer6)
n.632del
n.722del
n.390del
c.2121del (p.Gly708AspfsTer6)
c.1974del (p.Gly659AspfsTer6)
c.2032-2236del (n.2032-2236del)
c.1962del (p.Gly655AspfsTer6)
c.1941del (p.Gly648AspfsTer6)
c.2130del (p.Gly711AspfsTer6)
c.2049del (p.Gly684AspfsTer6)
c.1983del (p.Gly662AspfsTer6)
c.1863del (p.Gly622AspfsTer6)
c.1770del (p.Gly591AspfsTer6)
c.1506del (p.Gly503AspfsTer6)
c.1950del (p.Gly651AspfsTer6)
c.1875del (p.Gly626AspfsTer6)
 gnomAD v4
1g.92607639T>ACA341152035EVI5c.1901A>T (p.Lys634Ile)
c.1892A>T (p.Lys631Ile)
c.*1749A>T (n.*1749A>T)
c.1916A>T (p.Lys639Ile)
c.1997A>T (p.Lys666Ile)
n.310-3840A>T
c.704A>T (p.Lys235Ile)
c.1781A>T (p.Lys594Ile)
c.1868A>T (p.Lys623Ile)
n.631A>T
n.721A>T
n.389A>T
c.2120A>T (p.Lys707Ile)
c.1973A>T (p.Lys658Ile)
c.2032-2237A>T (n.2032-2237A>T)
c.1961A>T (p.Lys654Ile)
c.1940A>T (p.Lys647Ile)
c.2129A>T (p.Lys710Ile)
c.2048A>T (p.Lys683Ile)
c.1982A>T (p.Lys661Ile)
c.1862A>T (p.Lys621Ile)
c.1769A>T (p.Lys590Ile)
c.1505A>T (p.Lys502Ile)
c.1949A>T (p.Lys650Ile)
c.1874A>T (p.Lys625Ile)
 COSMIC COSMIC
1g.92607639T>CCA341152037EVI5c.1901A>G (p.Lys634Arg)
c.1892A>G (p.Lys631Arg)
c.*1749A>G (n.*1749A>G)
c.1916A>G (p.Lys639Arg)
c.1997A>G (p.Lys666Arg)
n.310-3840A>G
c.704A>G (p.Lys235Arg)
c.1781A>G (p.Lys594Arg)
c.1868A>G (p.Lys623Arg)
n.631A>G
n.721A>G
n.389A>G
c.2120A>G (p.Lys707Arg)
c.1973A>G (p.Lys658Arg)
c.2032-2237A>G (n.2032-2237A>G)
c.1961A>G (p.Lys654Arg)
c.1940A>G (p.Lys647Arg)
c.2129A>G (p.Lys710Arg)
c.2048A>G (p.Lys683Arg)
c.1982A>G (p.Lys661Arg)
c.1862A>G (p.Lys621Arg)
c.1769A>G (p.Lys590Arg)
c.1505A>G (p.Lys502Arg)
c.1949A>G (p.Lys650Arg)
c.1874A>G (p.Lys625Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.92607639T>GCA341152039EVI5c.1901A>C (p.Lys634Thr)
c.1892A>C (p.Lys631Thr)
c.*1749A>C (n.*1749A>C)
c.1916A>C (p.Lys639Thr)
c.1997A>C (p.Lys666Thr)
n.310-3840A>C
c.704A>C (p.Lys235Thr)
c.1781A>C (p.Lys594Thr)
c.1868A>C (p.Lys623Thr)
n.631A>C
n.721A>C
n.389A>C
c.2120A>C (p.Lys707Thr)
c.1973A>C (p.Lys658Thr)
c.2032-2237A>C (n.2032-2237A>C)
c.1961A>C (p.Lys654Thr)
c.1940A>C (p.Lys647Thr)
c.2129A>C (p.Lys710Thr)
c.2048A>C (p.Lys683Thr)
c.1982A>C (p.Lys661Thr)
c.1862A>C (p.Lys621Thr)
c.1769A>C (p.Lys590Thr)
c.1505A>C (p.Lys502Thr)
c.1949A>C (p.Lys650Thr)
c.1874A>C (p.Lys625Thr)
1g.92607639T=CA1180836771EVI5c.1901A= (p.Lys634=)
c.1892A= (p.Lys631=)
c.*1749A= (n.*1749A=)
c.1916A= (p.Lys639=)
c.1997A= (p.Lys666=)
n.310-3840A=
c.704A= (p.Lys235=)
c.1781A= (p.Lys594=)
c.1868A= (p.Lys623=)
n.631A=
n.721A=
n.389A=
c.2120A= (p.Lys707=)
c.1973A= (p.Lys658=)
c.2032-2237A= (n.2032-2237A=)
c.1961A= (p.Lys654=)
c.1940A= (p.Lys647=)
c.2129A= (p.Lys710=)
c.2048A= (p.Lys683=)
c.1982A= (p.Lys661=)
c.1862A= (p.Lys621=)
c.1769A= (p.Lys590=)
c.1505A= (p.Lys502=)
c.1949A= (p.Lys650=)
c.1874A= (p.Lys625=)
1g.92607640T>ACA341152041EVI5c.1900A>T (p.Lys634Ter)
c.1891A>T (p.Lys631Ter)
c.*1748A>T (n.*1748A>T)
c.1915A>T (p.Lys639Ter)
c.1996A>T (p.Lys666Ter)
n.310-3841A>T
c.703A>T (p.Lys235Ter)
c.1780A>T (p.Lys594Ter)
c.1867A>T (p.Lys623Ter)
n.630A>T
n.720A>T
n.388A>T
c.2119A>T (p.Lys707Ter)
c.1972A>T (p.Lys658Ter)
c.2032-2238A>T (n.2032-2238A>T)
c.1960A>T (p.Lys654Ter)
c.1939A>T (p.Lys647Ter)
c.2128A>T (p.Lys710Ter)
c.2047A>T (p.Lys683Ter)
c.1981A>T (p.Lys661Ter)
c.1861A>T (p.Lys621Ter)
c.1768A>T (p.Lys590Ter)
c.1504A>T (p.Lys502Ter)
c.1948A>T (p.Lys650Ter)
c.1873A>T (p.Lys625Ter)
1g.92607640T>CCA341152042EVI5c.1900A>G (p.Lys634Glu)
c.1891A>G (p.Lys631Glu)
c.*1748A>G (n.*1748A>G)
c.1915A>G (p.Lys639Glu)
c.1996A>G (p.Lys666Glu)
n.310-3841A>G
c.703A>G (p.Lys235Glu)
c.1780A>G (p.Lys594Glu)
c.1867A>G (p.Lys623Glu)
n.630A>G
n.720A>G
n.388A>G
c.2119A>G (p.Lys707Glu)
c.1972A>G (p.Lys658Glu)
c.2032-2238A>G (n.2032-2238A>G)
c.1960A>G (p.Lys654Glu)
c.1939A>G (p.Lys647Glu)
c.2128A>G (p.Lys710Glu)
c.2047A>G (p.Lys683Glu)
c.1981A>G (p.Lys661Glu)
c.1861A>G (p.Lys621Glu)
c.1768A>G (p.Lys590Glu)
c.1504A>G (p.Lys502Glu)
c.1948A>G (p.Lys650Glu)
c.1873A>G (p.Lys625Glu)
1g.92607640T>GCA341152044EVI5c.1900A>C (p.Lys634Gln)
c.1891A>C (p.Lys631Gln)
c.*1748A>C (n.*1748A>C)
c.1915A>C (p.Lys639Gln)
c.1996A>C (p.Lys666Gln)
n.310-3841A>C
c.703A>C (p.Lys235Gln)
c.1780A>C (p.Lys594Gln)
c.1867A>C (p.Lys623Gln)
n.630A>C
n.720A>C
n.388A>C
c.2119A>C (p.Lys707Gln)
c.1972A>C (p.Lys658Gln)
c.2032-2238A>C (n.2032-2238A>C)
c.1960A>C (p.Lys654Gln)
c.1939A>C (p.Lys647Gln)
c.2128A>C (p.Lys710Gln)
c.2047A>C (p.Lys683Gln)
c.1981A>C (p.Lys661Gln)
c.1861A>C (p.Lys621Gln)
c.1768A>C (p.Lys590Gln)
c.1504A>C (p.Lys502Gln)
c.1948A>C (p.Lys650Gln)
c.1873A>C (p.Lys625Gln)
1g.92607641G>ACA418958826EVI5c.1899C>T (p.Asn633=)
c.1890C>T (p.Asn630=)
c.*1747C>T (n.*1747C>T)
c.1914C>T (p.Asn638=)
c.1995C>T (p.Asn665=)
n.310-3842C>T
c.702C>T (p.Asn234=)
c.1779C>T (p.Asn593=)
c.1866C>T (p.Asn622=)
n.629C>T
n.719C>T
n.387C>T
c.2118C>T (p.Asn706=)
c.1971C>T (p.Asn657=)
c.2032-2239C>T (n.2032-2239C>T)
c.1959C>T (p.Asn653=)
c.1938C>T (p.Asn646=)
c.2127C>T (p.Asn709=)
c.2046C>T (p.Asn682=)
c.1980C>T (p.Asn660=)
c.1860C>T (p.Asn620=)
c.1767C>T (p.Asn589=)
c.1503C>T (p.Asn501=)
c.1947C>T (p.Asn649=)
c.1872C>T (p.Asn624=)
1g.92607641G>CCA341152045EVI5c.1899C>G (p.Asn633Lys)
c.1890C>G (p.Asn630Lys)
c.*1747C>G (n.*1747C>G)
c.1914C>G (p.Asn638Lys)
c.1995C>G (p.Asn665Lys)
n.310-3842C>G
c.702C>G (p.Asn234Lys)
c.1779C>G (p.Asn593Lys)
c.1866C>G (p.Asn622Lys)
n.629C>G
n.719C>G
n.387C>G
c.2118C>G (p.Asn706Lys)
c.1971C>G (p.Asn657Lys)
c.2032-2239C>G (n.2032-2239C>G)
c.1959C>G (p.Asn653Lys)
c.1938C>G (p.Asn646Lys)
c.2127C>G (p.Asn709Lys)
c.2046C>G (p.Asn682Lys)
c.1980C>G (p.Asn660Lys)
c.1860C>G (p.Asn620Lys)
c.1767C>G (p.Asn589Lys)
c.1503C>G (p.Asn501Lys)
c.1947C>G (p.Asn649Lys)
c.1872C>G (p.Asn624Lys)
1g.92607641G>TCA341152047EVI5c.1899C>A (p.Asn633Lys)
c.1890C>A (p.Asn630Lys)
c.*1747C>A (n.*1747C>A)
c.1914C>A (p.Asn638Lys)
c.1995C>A (p.Asn665Lys)
n.310-3842C>A
c.702C>A (p.Asn234Lys)
c.1779C>A (p.Asn593Lys)
c.1866C>A (p.Asn622Lys)
n.629C>A
n.719C>A
n.387C>A
c.2118C>A (p.Asn706Lys)
c.1971C>A (p.Asn657Lys)
c.2032-2239C>A (n.2032-2239C>A)
c.1959C>A (p.Asn653Lys)
c.1938C>A (p.Asn646Lys)
c.2127C>A (p.Asn709Lys)
c.2046C>A (p.Asn682Lys)
c.1980C>A (p.Asn660Lys)
c.1860C>A (p.Asn620Lys)
c.1767C>A (p.Asn589Lys)
c.1503C>A (p.Asn501Lys)
c.1947C>A (p.Asn649Lys)
c.1872C>A (p.Asn624Lys)
 gnomAD v4
1g.92607642T>ACA341152051EVI5c.1898A>T (p.Asn633Ile)
c.1889A>T (p.Asn630Ile)
c.*1746A>T (n.*1746A>T)
c.1913A>T (p.Asn638Ile)
c.1994A>T (p.Asn665Ile)
n.310-3843A>T
c.701A>T (p.Asn234Ile)
c.1778A>T (p.Asn593Ile)
c.1865A>T (p.Asn622Ile)
n.628A>T
n.718A>T
n.386A>T
c.2117A>T (p.Asn706Ile)
c.1970A>T (p.Asn657Ile)
c.2032-2240A>T (n.2032-2240A>T)
c.1958A>T (p.Asn653Ile)
c.1937A>T (p.Asn646Ile)
c.2126A>T (p.Asn709Ile)
c.2045A>T (p.Asn682Ile)
c.1979A>T (p.Asn660Ile)
c.1859A>T (p.Asn620Ile)
c.1766A>T (p.Asn589Ile)
c.1502A>T (p.Asn501Ile)
c.1946A>T (p.Asn649Ile)
c.1871A>T (p.Asn624Ile)
1g.92607642T>CCA951687EVI5c.1898A>G (p.Asn633Ser)
c.1889A>G (p.Asn630Ser)
c.*1746A>G (n.*1746A>G)
c.1913A>G (p.Asn638Ser)
c.1994A>G (p.Asn665Ser)
n.310-3843A>G
c.701A>G (p.Asn234Ser)
c.1778A>G (p.Asn593Ser)
c.1865A>G (p.Asn622Ser)
n.628A>G
n.718A>G
n.386A>G
c.2117A>G (p.Asn706Ser)
c.1970A>G (p.Asn657Ser)
c.2032-2240A>G (n.2032-2240A>G)
c.1958A>G (p.Asn653Ser)
c.1937A>G (p.Asn646Ser)
c.2126A>G (p.Asn709Ser)
c.2045A>G (p.Asn682Ser)
c.1979A>G (p.Asn660Ser)
c.1859A>G (p.Asn620Ser)
c.1766A>G (p.Asn589Ser)
c.1502A>G (p.Asn501Ser)
c.1946A>G (p.Asn649Ser)
c.1871A>G (p.Asn624Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.92607642T>GCA341152049EVI5c.1898A>C (p.Asn633Thr)
c.1889A>C (p.Asn630Thr)
c.*1746A>C (n.*1746A>C)
c.1913A>C (p.Asn638Thr)
c.1994A>C (p.Asn665Thr)
n.310-3843A>C
c.701A>C (p.Asn234Thr)
c.1778A>C (p.Asn593Thr)
c.1865A>C (p.Asn622Thr)
n.628A>C
n.718A>C
n.386A>C
c.2117A>C (p.Asn706Thr)
c.1970A>C (p.Asn657Thr)
c.2032-2240A>C (n.2032-2240A>C)
c.1958A>C (p.Asn653Thr)
c.1937A>C (p.Asn646Thr)
c.2126A>C (p.Asn709Thr)
c.2045A>C (p.Asn682Thr)
c.1979A>C (p.Asn660Thr)
c.1859A>C (p.Asn620Thr)
c.1766A>C (p.Asn589Thr)
c.1502A>C (p.Asn501Thr)
c.1946A>C (p.Asn649Thr)
c.1871A>C (p.Asn624Thr)
1g.92607642T=CA1143413129EVI5c.1898A= (p.Asn633=)
c.1889A= (p.Asn630=)
c.*1746A= (n.*1746A=)
c.1913A= (p.Asn638=)
c.1994A= (p.Asn665=)
n.310-3843A=
c.701A= (p.Asn234=)
c.1778A= (p.Asn593=)
c.1865A= (p.Asn622=)
n.628A=
n.718A=
n.386A=
c.2117A= (p.Asn706=)
c.1970A= (p.Asn657=)
c.2032-2240A= (n.2032-2240A=)
c.1958A= (p.Asn653=)
c.1937A= (p.Asn646=)
c.2126A= (p.Asn709=)
c.2045A= (p.Asn682=)
c.1979A= (p.Asn660=)
c.1859A= (p.Asn620=)
c.1766A= (p.Asn589=)
c.1502A= (p.Asn501=)
c.1946A= (p.Asn649=)
c.1871A= (p.Asn624=)
1g.92607643T>ACA341152053EVI5c.1897A>T (p.Asn633Tyr)
c.1888A>T (p.Asn630Tyr)
c.*1745A>T (n.*1745A>T)
c.1912A>T (p.Asn638Tyr)
c.1993A>T (p.Asn665Tyr)
n.310-3844A>T
c.700A>T (p.Asn234Tyr)
c.1777A>T (p.Asn593Tyr)
c.1864A>T (p.Asn622Tyr)
n.627A>T
n.717A>T
n.385A>T
c.2116A>T (p.Asn706Tyr)
c.1969A>T (p.Asn657Tyr)
c.2032-2241A>T (n.2032-2241A>T)
c.1957A>T (p.Asn653Tyr)
c.1936A>T (p.Asn646Tyr)
c.2125A>T (p.Asn709Tyr)
c.2044A>T (p.Asn682Tyr)
c.1978A>T (p.Asn660Tyr)
c.1858A>T (p.Asn620Tyr)
c.1765A>T (p.Asn589Tyr)
c.1501A>T (p.Asn501Tyr)
c.1945A>T (p.Asn649Tyr)
c.1870A>T (p.Asn624Tyr)
 gnomAD v4
1g.92607643T>CCA341152056EVI5c.1897A>G (p.Asn633Asp)
c.1888A>G (p.Asn630Asp)
c.*1745A>G (n.*1745A>G)
c.1912A>G (p.Asn638Asp)
c.1993A>G (p.Asn665Asp)
n.310-3844A>G
c.700A>G (p.Asn234Asp)
c.1777A>G (p.Asn593Asp)
c.1864A>G (p.Asn622Asp)
n.627A>G
n.717A>G
n.385A>G
c.2116A>G (p.Asn706Asp)
c.1969A>G (p.Asn657Asp)
c.2032-2241A>G (n.2032-2241A>G)
c.1957A>G (p.Asn653Asp)
c.1936A>G (p.Asn646Asp)
c.2125A>G (p.Asn709Asp)
c.2044A>G (p.Asn682Asp)
c.1978A>G (p.Asn660Asp)
c.1858A>G (p.Asn620Asp)
c.1765A>G (p.Asn589Asp)
c.1501A>G (p.Asn501Asp)
c.1945A>G (p.Asn649Asp)
c.1870A>G (p.Asn624Asp)
1g.92607643T>GCA341152055EVI5c.1897A>C (p.Asn633His)
c.1888A>C (p.Asn630His)
c.*1745A>C (n.*1745A>C)
c.1912A>C (p.Asn638His)
c.1993A>C (p.Asn665His)
n.310-3844A>C
c.700A>C (p.Asn234His)
c.1777A>C (p.Asn593His)
c.1864A>C (p.Asn622His)
n.627A>C
n.717A>C
n.385A>C
c.2116A>C (p.Asn706His)
c.1969A>C (p.Asn657His)
c.2032-2241A>C (n.2032-2241A>C)
c.1957A>C (p.Asn653His)
c.1936A>C (p.Asn646His)
c.2125A>C (p.Asn709His)
c.2044A>C (p.Asn682His)
c.1978A>C (p.Asn660His)
c.1858A>C (p.Asn620His)
c.1765A>C (p.Asn589His)
c.1501A>C (p.Asn501His)
c.1945A>C (p.Asn649His)
c.1870A>C (p.Asn624His)
1g.92607644C>ACA341152058EVI5c.1896G>T (p.Gln632His)
c.1887G>T (p.Gln629His)
c.*1744G>T (n.*1744G>T)
c.1911G>T (p.Gln637His)
c.1992G>T (p.Gln664His)
n.310-3845G>T
c.699G>T (p.Gln233His)
c.1776G>T (p.Gln592His)
c.1863G>T (p.Gln621His)
n.626G>T
n.716G>T
n.384G>T
c.2115G>T (p.Gln705His)
c.1968G>T (p.Gln656His)
c.2032-2242G>T (n.2032-2242G>T)
c.1956G>T (p.Gln652His)
c.1935G>T (p.Gln645His)
c.2124G>T (p.Gln708His)
c.2043G>T (p.Gln681His)
c.1977G>T (p.Gln659His)
c.1857G>T (p.Gln619His)
c.1764G>T (p.Gln588His)
c.1500G>T (p.Gln500His)
c.1944G>T (p.Gln648His)
c.1869G>T (p.Gln623His)
 gnomAD v4
1g.92607644C=CA1180836774EVI5c.1896G= (p.Gln632=)
c.1887G= (p.Gln629=)
c.*1744G= (n.*1744G=)
c.1911G= (p.Gln637=)
c.1992G= (p.Gln664=)
n.310-3845G=
c.699G= (p.Gln233=)
c.1776G= (p.Gln592=)
c.1863G= (p.Gln621=)
n.626G=
n.716G=
n.384G=
c.2115G= (p.Gln705=)
c.1968G= (p.Gln656=)
c.2032-2242G= (n.2032-2242G=)
c.1956G= (p.Gln652=)
c.1935G= (p.Gln645=)
c.2124G= (p.Gln708=)
c.2043G= (p.Gln681=)
c.1977G= (p.Gln659=)
c.1857G= (p.Gln619=)
c.1764G= (p.Gln588=)
c.1500G= (p.Gln500=)
c.1944G= (p.Gln648=)
c.1869G= (p.Gln623=)
1g.92607644C>GCA341152059EVI5c.1896G>C (p.Gln632His)
c.1887G>C (p.Gln629His)
c.*1744G>C (n.*1744G>C)
c.1911G>C (p.Gln637His)
c.1992G>C (p.Gln664His)
n.310-3845G>C
c.699G>C (p.Gln233His)
c.1776G>C (p.Gln592His)
c.1863G>C (p.Gln621His)
n.626G>C
n.716G>C
n.384G>C
c.2115G>C (p.Gln705His)
c.1968G>C (p.Gln656His)
c.2032-2242G>C (n.2032-2242G>C)
c.1956G>C (p.Gln652His)
c.1935G>C (p.Gln645His)
c.2124G>C (p.Gln708His)
c.2043G>C (p.Gln681His)
c.1977G>C (p.Gln659His)
c.1857G>C (p.Gln619His)
c.1764G>C (p.Gln588His)
c.1500G>C (p.Gln500His)
c.1944G>C (p.Gln648His)
c.1869G>C (p.Gln623His)
1g.92607644C>TCA418958833EVI5c.1896G>A (p.Gln632=)
c.1887G>A (p.Gln629=)
c.*1744G>A (n.*1744G>A)
c.1911G>A (p.Gln637=)
c.1992G>A (p.Gln664=)
n.310-3845G>A
c.699G>A (p.Gln233=)
c.1776G>A (p.Gln592=)
c.1863G>A (p.Gln621=)
n.626G>A
n.716G>A
n.384G>A
c.2115G>A (p.Gln705=)
c.1968G>A (p.Gln656=)
c.2032-2242G>A (n.2032-2242G>A)
c.1956G>A (p.Gln652=)
c.1935G>A (p.Gln645=)
c.2124G>A (p.Gln708=)
c.2043G>A (p.Gln681=)
c.1977G>A (p.Gln659=)
c.1857G>A (p.Gln619=)
c.1764G>A (p.Gln588=)
c.1500G>A (p.Gln500=)
c.1944G>A (p.Gln648=)
c.1869G>A (p.Gln623=)
 dbSNP
1g.92607645T>ACA341152061EVI5c.1895A>T (p.Gln632Leu)
c.1886A>T (p.Gln629Leu)
c.*1743A>T (n.*1743A>T)
c.1910A>T (p.Gln637Leu)
c.1991A>T (p.Gln664Leu)
n.310-3846A>T
c.698A>T (p.Gln233Leu)
c.1775A>T (p.Gln592Leu)
c.1862A>T (p.Gln621Leu)
n.625A>T
n.715A>T
n.383A>T
c.2114A>T (p.Gln705Leu)
c.1967A>T (p.Gln656Leu)
c.2032-2243A>T (n.2032-2243A>T)
c.1955A>T (p.Gln652Leu)
c.1934A>T (p.Gln645Leu)
c.2123A>T (p.Gln708Leu)
c.2042A>T (p.Gln681Leu)
c.1976A>T (p.Gln659Leu)
c.1856A>T (p.Gln619Leu)
c.1763A>T (p.Gln588Leu)
c.1499A>T (p.Gln500Leu)
c.1943A>T (p.Gln648Leu)
c.1868A>T (p.Gln623Leu)
1g.92607645T>CCA341152062EVI5c.1895A>G (p.Gln632Arg)
c.1886A>G (p.Gln629Arg)
c.*1743A>G (n.*1743A>G)
c.1910A>G (p.Gln637Arg)
c.1991A>G (p.Gln664Arg)
n.310-3846A>G
c.698A>G (p.Gln233Arg)
c.1775A>G (p.Gln592Arg)
c.1862A>G (p.Gln621Arg)
n.625A>G
n.715A>G
n.383A>G
c.2114A>G (p.Gln705Arg)
c.1967A>G (p.Gln656Arg)
c.2032-2243A>G (n.2032-2243A>G)
c.1955A>G (p.Gln652Arg)
c.1934A>G (p.Gln645Arg)
c.2123A>G (p.Gln708Arg)
c.2042A>G (p.Gln681Arg)
c.1976A>G (p.Gln659Arg)
c.1856A>G (p.Gln619Arg)
c.1763A>G (p.Gln588Arg)
c.1499A>G (p.Gln500Arg)
c.1943A>G (p.Gln648Arg)
c.1868A>G (p.Gln623Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.92607645T>GCA341152063EVI5c.1895A>C (p.Gln632Pro)
c.1886A>C (p.Gln629Pro)
c.*1743A>C (n.*1743A>C)
c.1910A>C (p.Gln637Pro)
c.1991A>C (p.Gln664Pro)
n.310-3846A>C
c.698A>C (p.Gln233Pro)
c.1775A>C (p.Gln592Pro)
c.1862A>C (p.Gln621Pro)
n.625A>C
n.715A>C
n.383A>C
c.2114A>C (p.Gln705Pro)
c.1967A>C (p.Gln656Pro)
c.2032-2243A>C (n.2032-2243A>C)
c.1955A>C (p.Gln652Pro)
c.1934A>C (p.Gln645Pro)
c.2123A>C (p.Gln708Pro)
c.2042A>C (p.Gln681Pro)
c.1976A>C (p.Gln659Pro)
c.1856A>C (p.Gln619Pro)
c.1763A>C (p.Gln588Pro)
c.1499A>C (p.Gln500Pro)
c.1943A>C (p.Gln648Pro)
c.1868A>C (p.Gln623Pro)
1g.92607645T=CA1180836776EVI5c.1895A= (p.Gln632=)
c.1886A= (p.Gln629=)
c.*1743A= (n.*1743A=)
c.1910A= (p.Gln637=)
c.1991A= (p.Gln664=)
n.310-3846A=
c.698A= (p.Gln233=)
c.1775A= (p.Gln592=)
c.1862A= (p.Gln621=)
n.625A=
n.715A=
n.383A=
c.2114A= (p.Gln705=)
c.1967A= (p.Gln656=)
c.2032-2243A= (n.2032-2243A=)
c.1955A= (p.Gln652=)
c.1934A= (p.Gln645=)
c.2123A= (p.Gln708=)
c.2042A= (p.Gln681=)
c.1976A= (p.Gln659=)
c.1856A= (p.Gln619=)
c.1763A= (p.Gln588=)
c.1499A= (p.Gln500=)
c.1943A= (p.Gln648=)
c.1868A= (p.Gln623=)
1g.92607646G>ACA341152065EVI5c.1894C>T (p.Gln632Ter)
c.1885C>T (p.Gln629Ter)
c.*1742C>T (n.*1742C>T)
c.1909C>T (p.Gln637Ter)
c.1990C>T (p.Gln664Ter)
n.310-3847C>T
c.697C>T (p.Gln233Ter)
c.1774C>T (p.Gln592Ter)
c.1861C>T (p.Gln621Ter)
n.624C>T
n.714C>T
n.382C>T
c.2113C>T (p.Gln705Ter)
c.1966C>T (p.Gln656Ter)
c.2032-2244C>T (n.2032-2244C>T)
c.1954C>T (p.Gln652Ter)
c.1933C>T (p.Gln645Ter)
c.2122C>T (p.Gln708Ter)
c.2041C>T (p.Gln681Ter)
c.1975C>T (p.Gln659Ter)
c.1855C>T (p.Gln619Ter)
c.1762C>T (p.Gln588Ter)
c.1498C>T (p.Gln500Ter)
c.1942C>T (p.Gln648Ter)
c.1867C>T (p.Gln623Ter)
 gnomAD v4
1g.92607646G>CCA341152067EVI5c.1894C>G (p.Gln632Glu)
c.1885C>G (p.Gln629Glu)
c.*1742C>G (n.*1742C>G)
c.1909C>G (p.Gln637Glu)
c.1990C>G (p.Gln664Glu)
n.310-3847C>G
c.697C>G (p.Gln233Glu)
c.1774C>G (p.Gln592Glu)
c.1861C>G (p.Gln621Glu)
n.624C>G
n.714C>G
n.382C>G
c.2113C>G (p.Gln705Glu)
c.1966C>G (p.Gln656Glu)
c.2032-2244C>G (n.2032-2244C>G)
c.1954C>G (p.Gln652Glu)
c.1933C>G (p.Gln645Glu)
c.2122C>G (p.Gln708Glu)
c.2041C>G (p.Gln681Glu)
c.1975C>G (p.Gln659Glu)
c.1855C>G (p.Gln619Glu)
c.1762C>G (p.Gln588Glu)
c.1498C>G (p.Gln500Glu)
c.1942C>G (p.Gln648Glu)
c.1867C>G (p.Gln623Glu)
1g.92607646G>TCA341152069EVI5c.1894C>A (p.Gln632Lys)
c.1885C>A (p.Gln629Lys)
c.*1742C>A (n.*1742C>A)
c.1909C>A (p.Gln637Lys)
c.1990C>A (p.Gln664Lys)
n.310-3847C>A
c.697C>A (p.Gln233Lys)
c.1774C>A (p.Gln592Lys)
c.1861C>A (p.Gln621Lys)
n.624C>A
n.714C>A
n.382C>A
c.2113C>A (p.Gln705Lys)
c.1966C>A (p.Gln656Lys)
c.2032-2244C>A (n.2032-2244C>A)
c.1954C>A (p.Gln652Lys)
c.1933C>A (p.Gln645Lys)
c.2122C>A (p.Gln708Lys)
c.2041C>A (p.Gln681Lys)
c.1975C>A (p.Gln659Lys)
c.1855C>A (p.Gln619Lys)
c.1762C>A (p.Gln588Lys)
c.1498C>A (p.Gln500Lys)
c.1942C>A (p.Gln648Lys)
c.1867C>A (p.Gln623Lys)
 gnomAD v4
1g.92607647T>ACA418958844EVI5c.1893A>T (p.Ala631=)
c.1884A>T (p.Ala628=)
c.*1741A>T (n.*1741A>T)
c.1908A>T (p.Ala636=)
c.1989A>T (p.Ala663=)
n.310-3848A>T
c.696A>T (p.Ala232=)
c.1773A>T (p.Ala591=)
c.1860A>T (p.Ala620=)
n.623A>T
n.713A>T
n.381A>T
c.2112A>T (p.Ala704=)
c.1965A>T (p.Ala655=)
c.2032-2245A>T (n.2032-2245A>T)
c.1953A>T (p.Ala651=)
c.1932A>T (p.Ala644=)
c.2121A>T (p.Ala707=)
c.2040A>T (p.Ala680=)
c.1974A>T (p.Ala658=)
c.1854A>T (p.Ala618=)
c.1761A>T (p.Ala587=)
c.1497A>T (p.Ala499=)
c.1941A>T (p.Ala647=)
c.1866A>T (p.Ala622=)
1g.92607647T>CCA418958846EVI5c.1893A>G (p.Ala631=)
c.1884A>G (p.Ala628=)
c.*1741A>G (n.*1741A>G)
c.1908A>G (p.Ala636=)
c.1989A>G (p.Ala663=)
n.310-3848A>G
c.696A>G (p.Ala232=)
c.1773A>G (p.Ala591=)
c.1860A>G (p.Ala620=)
n.623A>G
n.713A>G
n.381A>G
c.2112A>G (p.Ala704=)
c.1965A>G (p.Ala655=)
c.2032-2245A>G (n.2032-2245A>G)
c.1953A>G (p.Ala651=)
c.1932A>G (p.Ala644=)
c.2121A>G (p.Ala707=)
c.2040A>G (p.Ala680=)
c.1974A>G (p.Ala658=)
c.1854A>G (p.Ala618=)
c.1761A>G (p.Ala587=)
c.1497A>G (p.Ala499=)
c.1941A>G (p.Ala647=)
c.1866A>G (p.Ala622=)
 gnomAD v4
1g.92607647T>GCA418958848EVI5c.1893A>C (p.Ala631=)
c.1884A>C (p.Ala628=)
c.*1741A>C (n.*1741A>C)
c.1908A>C (p.Ala636=)
c.1989A>C (p.Ala663=)
n.310-3848A>C
c.696A>C (p.Ala232=)
c.1773A>C (p.Ala591=)
c.1860A>C (p.Ala620=)
n.623A>C
n.713A>C
n.381A>C
c.2112A>C (p.Ala704=)
c.1965A>C (p.Ala655=)
c.2032-2245A>C (n.2032-2245A>C)
c.1953A>C (p.Ala651=)
c.1932A>C (p.Ala644=)
c.2121A>C (p.Ala707=)
c.2040A>C (p.Ala680=)
c.1974A>C (p.Ala658=)
c.1854A>C (p.Ala618=)
c.1761A>C (p.Ala587=)
c.1497A>C (p.Ala499=)
c.1941A>C (p.Ala647=)
c.1866A>C (p.Ala622=)
1g.92607648G>ACA341152071EVI5c.1892C>T (p.Ala631Val)
c.1883C>T (p.Ala628Val)
c.*1740C>T (n.*1740C>T)
c.1907C>T (p.Ala636Val)
c.1988C>T (p.Ala663Val)
n.310-3849C>T
c.695C>T (p.Ala232Val)
c.1772C>T (p.Ala591Val)
c.1859C>T (p.Ala620Val)
n.622C>T
n.712C>T
n.380C>T
c.2111C>T (p.Ala704Val)
c.1964C>T (p.Ala655Val)
c.2032-2246C>T (n.2032-2246C>T)
c.1952C>T (p.Ala651Val)
c.1931C>T (p.Ala644Val)
c.2120C>T (p.Ala707Val)
c.2039C>T (p.Ala680Val)
c.1973C>T (p.Ala658Val)
c.1853C>T (p.Ala618Val)
c.1760C>T (p.Ala587Val)
c.1496C>T (p.Ala499Val)
c.1940C>T (p.Ala647Val)
c.1865C>T (p.Ala622Val)
1g.92607648G>CCA341152072EVI5c.1892C>G (p.Ala631Gly)
c.1883C>G (p.Ala628Gly)
c.*1740C>G (n.*1740C>G)
c.1907C>G (p.Ala636Gly)
c.1988C>G (p.Ala663Gly)
n.310-3849C>G
c.695C>G (p.Ala232Gly)
c.1772C>G (p.Ala591Gly)
c.1859C>G (p.Ala620Gly)
n.622C>G
n.712C>G
n.380C>G
c.2111C>G (p.Ala704Gly)
c.1964C>G (p.Ala655Gly)
c.2032-2246C>G (n.2032-2246C>G)
c.1952C>G (p.Ala651Gly)
c.1931C>G (p.Ala644Gly)
c.2120C>G (p.Ala707Gly)
c.2039C>G (p.Ala680Gly)
c.1973C>G (p.Ala658Gly)
c.1853C>G (p.Ala618Gly)
c.1760C>G (p.Ala587Gly)
c.1496C>G (p.Ala499Gly)
c.1940C>G (p.Ala647Gly)
c.1865C>G (p.Ala622Gly)
1g.92607648G>TCA341152073EVI5c.1892C>A (p.Ala631Glu)
c.1883C>A (p.Ala628Glu)
c.*1740C>A (n.*1740C>A)
c.1907C>A (p.Ala636Glu)
c.1988C>A (p.Ala663Glu)
n.310-3849C>A
c.695C>A (p.Ala232Glu)
c.1772C>A (p.Ala591Glu)
c.1859C>A (p.Ala620Glu)
n.622C>A
n.712C>A
n.380C>A
c.2111C>A (p.Ala704Glu)
c.1964C>A (p.Ala655Glu)
c.2032-2246C>A (n.2032-2246C>A)
c.1952C>A (p.Ala651Glu)
c.1931C>A (p.Ala644Glu)
c.2120C>A (p.Ala707Glu)
c.2039C>A (p.Ala680Glu)
c.1973C>A (p.Ala658Glu)
c.1853C>A (p.Ala618Glu)
c.1760C>A (p.Ala587Glu)
c.1496C>A (p.Ala499Glu)
c.1940C>A (p.Ala647Glu)
c.1865C>A (p.Ala622Glu)
1g.92607649delCA2646588509EVI5c.1891del (p.Ala631HisfsTer10)
c.1882del (p.Ala628HisfsTer10)
c.*1739del (n.*1739del)
c.1906del (p.Ala636HisfsTer10)
c.1987del (p.Ala663HisfsTer10)
n.310-3850del
c.694del (p.Ala232HisfsTer10)
c.1771del (p.Ala591HisfsTer10)
c.1858del (p.Ala620HisfsTer10)
n.621del
n.711del
n.379del
c.2110del (p.Ala704HisfsTer10)
c.1963del (p.Ala655HisfsTer10)
c.2032-2247del (n.2032-2247del)
c.1951del (p.Ala651HisfsTer10)
c.1930del (p.Ala644HisfsTer10)
c.2119del (p.Ala707HisfsTer10)
c.2038del (p.Ala680HisfsTer10)
c.1972del (p.Ala658HisfsTer10)
c.1852del (p.Ala618HisfsTer10)
c.1759del (p.Ala587HisfsTer10)
c.1495del (p.Ala499HisfsTer10)
c.1939del (p.Ala647HisfsTer10)
c.1864del (p.Ala622HisfsTer10)
 gnomAD v4
1g.92607649C>ACA341152075EVI5c.1891G>T (p.Ala631Ser)
c.1882G>T (p.Ala628Ser)
c.*1739G>T (n.*1739G>T)
c.1906G>T (p.Ala636Ser)
c.1987G>T (p.Ala663Ser)
n.310-3850G>T
c.694G>T (p.Ala232Ser)
c.1771G>T (p.Ala591Ser)
c.1858G>T (p.Ala620Ser)
n.621G>T
n.711G>T
n.379G>T
c.2110G>T (p.Ala704Ser)
c.1963G>T (p.Ala655Ser)
c.2032-2247G>T (n.2032-2247G>T)
c.1951G>T (p.Ala651Ser)
c.1930G>T (p.Ala644Ser)
c.2119G>T (p.Ala707Ser)
c.2038G>T (p.Ala680Ser)
c.1972G>T (p.Ala658Ser)
c.1852G>T (p.Ala618Ser)
c.1759G>T (p.Ala587Ser)
c.1495G>T (p.Ala499Ser)
c.1939G>T (p.Ala647Ser)
c.1864G>T (p.Ala622Ser)
1g.92607649C>GCA341152077EVI5c.1891G>C (p.Ala631Pro)
c.1882G>C (p.Ala628Pro)
c.*1739G>C (n.*1739G>C)
c.1906G>C (p.Ala636Pro)
c.1987G>C (p.Ala663Pro)
n.310-3850G>C
c.694G>C (p.Ala232Pro)
c.1771G>C (p.Ala591Pro)
c.1858G>C (p.Ala620Pro)
n.621G>C
n.711G>C
n.379G>C
c.2110G>C (p.Ala704Pro)
c.1963G>C (p.Ala655Pro)
c.2032-2247G>C (n.2032-2247G>C)
c.1951G>C (p.Ala651Pro)
c.1930G>C (p.Ala644Pro)
c.2119G>C (p.Ala707Pro)
c.2038G>C (p.Ala680Pro)
c.1972G>C (p.Ala658Pro)
c.1852G>C (p.Ala618Pro)
c.1759G>C (p.Ala587Pro)
c.1495G>C (p.Ala499Pro)
c.1939G>C (p.Ala647Pro)
c.1864G>C (p.Ala622Pro)
1g.92607649C>TCA341152079EVI5c.1891G>A (p.Ala631Thr)
c.1882G>A (p.Ala628Thr)
c.*1739G>A (n.*1739G>A)
c.1906G>A (p.Ala636Thr)
c.1987G>A (p.Ala663Thr)
n.310-3850G>A
c.694G>A (p.Ala232Thr)
c.1771G>A (p.Ala591Thr)
c.1858G>A (p.Ala620Thr)
n.621G>A
n.711G>A
n.379G>A
c.2110G>A (p.Ala704Thr)
c.1963G>A (p.Ala655Thr)
c.2032-2247G>A (n.2032-2247G>A)
c.1951G>A (p.Ala651Thr)
c.1930G>A (p.Ala644Thr)
c.2119G>A (p.Ala707Thr)
c.2038G>A (p.Ala680Thr)
c.1972G>A (p.Ala658Thr)
c.1852G>A (p.Ala618Thr)
c.1759G>A (p.Ala587Thr)
c.1495G>A (p.Ala499Thr)
c.1939G>A (p.Ala647Thr)
c.1864G>A (p.Ala622Thr)
 gnomAD v4
1g.92607650A>CCA418958861EVI5c.1890T>G (p.Ser630=)
c.1881T>G (p.Ser627=)
c.*1738T>G (n.*1738T>G)
c.1905T>G (p.Ser635=)
c.1986T>G (p.Ser662=)
n.310-3851T>G
c.693T>G (p.Ser231=)
c.1770T>G (p.Ser590=)
c.1857T>G (p.Ser619=)
n.620T>G
n.710T>G
n.378T>G
c.2109T>G (p.Ser703=)
c.1962T>G (p.Ser654=)
c.2032-2248T>G (n.2032-2248T>G)
c.1950T>G (p.Ser650=)
c.1929T>G (p.Ser643=)
c.2118T>G (p.Ser706=)
c.2037T>G (p.Ser679=)
c.1971T>G (p.Ser657=)
c.1851T>G (p.Ser617=)
c.1758T>G (p.Ser586=)
c.1494T>G (p.Ser498=)
c.1938T>G (p.Ser646=)
c.1863T>G (p.Ser621=)
1g.92607650A>GCA418958863EVI5c.1890T>C (p.Ser630=)
c.1881T>C (p.Ser627=)
c.*1738T>C (n.*1738T>C)
c.1905T>C (p.Ser635=)
c.1986T>C (p.Ser662=)
n.310-3851T>C
c.693T>C (p.Ser231=)
c.1770T>C (p.Ser590=)
c.1857T>C (p.Ser619=)
n.620T>C
n.710T>C
n.378T>C
c.2109T>C (p.Ser703=)
c.1962T>C (p.Ser654=)
c.2032-2248T>C (n.2032-2248T>C)
c.1950T>C (p.Ser650=)
c.1929T>C (p.Ser643=)
c.2118T>C (p.Ser706=)
c.2037T>C (p.Ser679=)
c.1971T>C (p.Ser657=)
c.1851T>C (p.Ser617=)
c.1758T>C (p.Ser586=)
c.1494T>C (p.Ser498=)
c.1938T>C (p.Ser646=)
c.1863T>C (p.Ser621=)
1g.92607650A>TCA418958865EVI5c.1890T>A (p.Ser630=)
c.1881T>A (p.Ser627=)
c.*1738T>A (n.*1738T>A)
c.1905T>A (p.Ser635=)
c.1986T>A (p.Ser662=)
n.310-3851T>A
c.693T>A (p.Ser231=)
c.1770T>A (p.Ser590=)
c.1857T>A (p.Ser619=)
n.620T>A
n.710T>A
n.378T>A
c.2109T>A (p.Ser703=)
c.1962T>A (p.Ser654=)
c.2032-2248T>A (n.2032-2248T>A)
c.1950T>A (p.Ser650=)
c.1929T>A (p.Ser643=)
c.2118T>A (p.Ser706=)
c.2037T>A (p.Ser679=)
c.1971T>A (p.Ser657=)
c.1851T>A (p.Ser617=)
c.1758T>A (p.Ser586=)
c.1494T>A (p.Ser498=)
c.1938T>A (p.Ser646=)
c.1863T>A (p.Ser621=)
1g.92607651G>ACA341152085EVI5c.1889C>T (p.Ser630Phe)
c.1880C>T (p.Ser627Phe)
c.*1737C>T (n.*1737C>T)
c.1904C>T (p.Ser635Phe)
c.1985C>T (p.Ser662Phe)
n.310-3852C>T
c.692C>T (p.Ser231Phe)
c.1769C>T (p.Ser590Phe)
c.1856C>T (p.Ser619Phe)
n.619C>T
n.709C>T
n.377C>T
c.2108C>T (p.Ser703Phe)
c.1961C>T (p.Ser654Phe)
c.2032-2249C>T (n.2032-2249C>T)
c.1949C>T (p.Ser650Phe)
c.1928C>T (p.Ser643Phe)
c.2117C>T (p.Ser706Phe)
c.2036C>T (p.Ser679Phe)
c.1970C>T (p.Ser657Phe)
c.1850C>T (p.Ser617Phe)
c.1757C>T (p.Ser586Phe)
c.1493C>T (p.Ser498Phe)
c.1937C>T (p.Ser646Phe)
c.1862C>T (p.Ser621Phe)
 gnomAD v4
1g.92607651G>CCA341152081EVI5c.1889C>G (p.Ser630Cys)
c.1880C>G (p.Ser627Cys)
c.*1737C>G (n.*1737C>G)
c.1904C>G (p.Ser635Cys)
c.1985C>G (p.Ser662Cys)
n.310-3852C>G
c.692C>G (p.Ser231Cys)
c.1769C>G (p.Ser590Cys)
c.1856C>G (p.Ser619Cys)
n.619C>G
n.709C>G
n.377C>G
c.2108C>G (p.Ser703Cys)
c.1961C>G (p.Ser654Cys)
c.2032-2249C>G (n.2032-2249C>G)
c.1949C>G (p.Ser650Cys)
c.1928C>G (p.Ser643Cys)
c.2117C>G (p.Ser706Cys)
c.2036C>G (p.Ser679Cys)
c.1970C>G (p.Ser657Cys)
c.1850C>G (p.Ser617Cys)
c.1757C>G (p.Ser586Cys)
c.1493C>G (p.Ser498Cys)
c.1937C>G (p.Ser646Cys)
c.1862C>G (p.Ser621Cys)
1g.92607651G>TCA341152083EVI5c.1889C>A (p.Ser630Tyr)
c.1880C>A (p.Ser627Tyr)
c.*1737C>A (n.*1737C>A)
c.1904C>A (p.Ser635Tyr)
c.1985C>A (p.Ser662Tyr)
n.310-3852C>A
c.692C>A (p.Ser231Tyr)
c.1769C>A (p.Ser590Tyr)
c.1856C>A (p.Ser619Tyr)
n.619C>A
n.709C>A
n.377C>A
c.2108C>A (p.Ser703Tyr)
c.1961C>A (p.Ser654Tyr)
c.2032-2249C>A (n.2032-2249C>A)
c.1949C>A (p.Ser650Tyr)
c.1928C>A (p.Ser643Tyr)
c.2117C>A (p.Ser706Tyr)
c.2036C>A (p.Ser679Tyr)
c.1970C>A (p.Ser657Tyr)
c.1850C>A (p.Ser617Tyr)
c.1757C>A (p.Ser586Tyr)
c.1493C>A (p.Ser498Tyr)
c.1937C>A (p.Ser646Tyr)
c.1862C>A (p.Ser621Tyr)
 gnomAD v4
1g.92607651_92607652insTATCTTTCTGCCA2646588510EVI5c.1888_1889insGCAGAAAGATA (p.Ser630CysfsTer15)
c.1879_1880insGCAGAAAGATA (p.Ser627CysfsTer15)
c.*1736_*1737insGCAGAAAGATA (n.*1736_*1737insGCAGAAAGATA)
c.1903_1904insGCAGAAAGATA (p.Ser635CysfsTer15)
c.1984_1985insGCAGAAAGATA (p.Ser662CysfsTer15)
n.310-3853_310-3852insGCAGAAAGATA
c.691_692insGCAGAAAGATA (p.Ser231CysfsTer15)
c.1768_1769insGCAGAAAGATA (p.Ser590CysfsTer15)
c.1855_1856insGCAGAAAGATA (p.Ser619CysfsTer15)
n.618_619insGCAGAAAGATA
n.708_709insGCAGAAAGATA
n.376_377insGCAGAAAGATA
c.2107_2108insGCAGAAAGATA (p.Ser703CysfsTer15)
c.1960_1961insGCAGAAAGATA (p.Ser654CysfsTer15)
c.2032-2250_2032-2249insGCAGAAAGATA (n.2032-2250_2032-2249insGCAGAAAGATA)
c.1948_1949insGCAGAAAGATA (p.Ser650CysfsTer15)
c.1927_1928insGCAGAAAGATA (p.Ser643CysfsTer15)
c.2116_2117insGCAGAAAGATA (p.Ser706CysfsTer15)
c.2035_2036insGCAGAAAGATA (p.Ser679CysfsTer15)
c.1969_1970insGCAGAAAGATA (p.Ser657CysfsTer15)
c.1849_1850insGCAGAAAGATA (p.Ser617CysfsTer15)
c.1756_1757insGCAGAAAGATA (p.Ser586CysfsTer15)
c.1492_1493insGCAGAAAGATA (p.Ser498CysfsTer15)
c.1936_1937insGCAGAAAGATA (p.Ser646CysfsTer15)
c.1861_1862insGCAGAAAGATA (p.Ser621CysfsTer15)
 gnomAD v4
1g.92607652A>CCA341152086EVI5c.1888T>G (p.Ser630Ala)
c.1879T>G (p.Ser627Ala)
c.*1736T>G (n.*1736T>G)
c.1903T>G (p.Ser635Ala)
c.1984T>G (p.Ser662Ala)
n.310-3853T>G
c.691T>G (p.Ser231Ala)
c.1768T>G (p.Ser590Ala)
c.1855T>G (p.Ser619Ala)
n.618T>G
n.708T>G
n.376T>G
c.2107T>G (p.Ser703Ala)
c.1960T>G (p.Ser654Ala)
c.2032-2250T>G (n.2032-2250T>G)
c.1948T>G (p.Ser650Ala)
c.1927T>G (p.Ser643Ala)
c.2116T>G (p.Ser706Ala)
c.2035T>G (p.Ser679Ala)
c.1969T>G (p.Ser657Ala)
c.1849T>G (p.Ser617Ala)
c.1756T>G (p.Ser586Ala)
c.1492T>G (p.Ser498Ala)
c.1936T>G (p.Ser646Ala)
c.1861T>G (p.Ser621Ala)
1g.92607652A>GCA341152088EVI5c.1888T>C (p.Ser630Pro)
c.1879T>C (p.Ser627Pro)
c.*1736T>C (n.*1736T>C)
c.1903T>C (p.Ser635Pro)
c.1984T>C (p.Ser662Pro)
n.310-3853T>C
c.691T>C (p.Ser231Pro)
c.1768T>C (p.Ser590Pro)
c.1855T>C (p.Ser619Pro)
n.618T>C
n.708T>C
n.376T>C
c.2107T>C (p.Ser703Pro)
c.1960T>C (p.Ser654Pro)
c.2032-2250T>C (n.2032-2250T>C)
c.1948T>C (p.Ser650Pro)
c.1927T>C (p.Ser643Pro)
c.2116T>C (p.Ser706Pro)
c.2035T>C (p.Ser679Pro)
c.1969T>C (p.Ser657Pro)
c.1849T>C (p.Ser617Pro)
c.1756T>C (p.Ser586Pro)
c.1492T>C (p.Ser498Pro)
c.1936T>C (p.Ser646Pro)
c.1861T>C (p.Ser621Pro)
1g.92607652A>TCA341152090EVI5c.1888T>A (p.Ser630Thr)
c.1879T>A (p.Ser627Thr)
c.*1736T>A (n.*1736T>A)
c.1903T>A (p.Ser635Thr)
c.1984T>A (p.Ser662Thr)
n.310-3853T>A
c.691T>A (p.Ser231Thr)
c.1768T>A (p.Ser590Thr)
c.1855T>A (p.Ser619Thr)
n.618T>A
n.708T>A
n.376T>A
c.2107T>A (p.Ser703Thr)
c.1960T>A (p.Ser654Thr)
c.2032-2250T>A (n.2032-2250T>A)
c.1948T>A (p.Ser650Thr)
c.1927T>A (p.Ser643Thr)
c.2116T>A (p.Ser706Thr)
c.2035T>A (p.Ser679Thr)
c.1969T>A (p.Ser657Thr)
c.1849T>A (p.Ser617Thr)
c.1756T>A (p.Ser586Thr)
c.1492T>A (p.Ser498Thr)
c.1936T>A (p.Ser646Thr)
c.1861T>A (p.Ser621Thr)
1g.92607652_92607656delCA2646588511EVI5c.1884_1888del (p.Leu629CysfsTer12)
c.1875_1879del (p.Leu626CysfsTer12)
c.*1732_*1736del (n.*1732_*1736del)
c.1899_1903del (p.Leu634CysfsTer12)
c.1980_1984del (p.Leu661CysfsTer12)
n.310-3857_310-3853del
c.687_691del (p.Leu230CysfsTer12)
c.1764_1768del (p.Leu589CysfsTer12)
c.1851_1855del (p.Leu618CysfsTer12)
n.614_618del
n.704_708del
n.372_376del
c.2103_2107del (p.Leu702CysfsTer12)
c.1956_1960del (p.Leu653CysfsTer12)
c.2032-2254_2032-2250del (n.2032-2254_2032-2250del)
c.1944_1948del (p.Leu649CysfsTer12)
c.1923_1927del (p.Leu642CysfsTer12)
c.2112_2116del (p.Leu705CysfsTer12)
c.2031_2035del (p.Leu678CysfsTer12)
c.1965_1969del (p.Leu656CysfsTer12)
c.1845_1849del (p.Leu616CysfsTer12)
c.1752_1756del (p.Leu585CysfsTer12)
c.1488_1492del (p.Leu497CysfsTer12)
c.1932_1936del (p.Leu645CysfsTer12)
c.1857_1861del (p.Leu620CysfsTer12)
 gnomAD v4
1g.92607653A>CCA418958882EVI5c.1887T>G (p.Leu629=)
c.1878T>G (p.Leu626=)
c.*1735T>G (n.*1735T>G)
c.1902T>G (p.Leu634=)
c.1983T>G (p.Leu661=)
n.310-3854T>G
c.690T>G (p.Leu230=)
c.1767T>G (p.Leu589=)
c.1854T>G (p.Leu618=)
n.617T>G
n.707T>G
n.375T>G
c.2106T>G (p.Leu702=)
c.1959T>G (p.Leu653=)
c.2032-2251T>G (n.2032-2251T>G)
c.1947T>G (p.Leu649=)
c.1926T>G (p.Leu642=)
c.2115T>G (p.Leu705=)
c.2034T>G (p.Leu678=)
c.1968T>G (p.Leu656=)
c.1848T>G (p.Leu616=)
c.1755T>G (p.Leu585=)
c.1491T>G (p.Leu497=)
c.1935T>G (p.Leu645=)
c.1860T>G (p.Leu620=)
 gnomAD v4
1g.92607653A>GCA418958879EVI5c.1887T>C (p.Leu629=)
c.1878T>C (p.Leu626=)
c.*1735T>C (n.*1735T>C)
c.1902T>C (p.Leu634=)
c.1983T>C (p.Leu661=)
n.310-3854T>C
c.690T>C (p.Leu230=)
c.1767T>C (p.Leu589=)
c.1854T>C (p.Leu618=)
n.617T>C
n.707T>C
n.375T>C
c.2106T>C (p.Leu702=)
c.1959T>C (p.Leu653=)
c.2032-2251T>C (n.2032-2251T>C)
c.1947T>C (p.Leu649=)
c.1926T>C (p.Leu642=)
c.2115T>C (p.Leu705=)
c.2034T>C (p.Leu678=)
c.1968T>C (p.Leu656=)
c.1848T>C (p.Leu616=)
c.1755T>C (p.Leu585=)
c.1491T>C (p.Leu497=)
c.1935T>C (p.Leu645=)
c.1860T>C (p.Leu620=)
1g.92607653A>TCA418958876EVI5c.1887T>A (p.Leu629=)
c.1878T>A (p.Leu626=)
c.*1735T>A (n.*1735T>A)
c.1902T>A (p.Leu634=)
c.1983T>A (p.Leu661=)
n.310-3854T>A
c.690T>A (p.Leu230=)
c.1767T>A (p.Leu589=)
c.1854T>A (p.Leu618=)
n.617T>A
n.707T>A
n.375T>A
c.2106T>A (p.Leu702=)
c.1959T>A (p.Leu653=)
c.2032-2251T>A (n.2032-2251T>A)
c.1947T>A (p.Leu649=)
c.1926T>A (p.Leu642=)
c.2115T>A (p.Leu705=)
c.2034T>A (p.Leu678=)
c.1968T>A (p.Leu656=)
c.1848T>A (p.Leu616=)
c.1755T>A (p.Leu585=)
c.1491T>A (p.Leu497=)
c.1935T>A (p.Leu645=)
c.1860T>A (p.Leu620=)
1g.92607654A>CCA341152093EVI5c.1886T>G (p.Leu629Arg)
c.1877T>G (p.Leu626Arg)
c.*1734T>G (n.*1734T>G)
c.1901T>G (p.Leu634Arg)
c.1982T>G (p.Leu661Arg)
n.310-3855T>G
c.689T>G (p.Leu230Arg)
c.1766T>G (p.Leu589Arg)
c.1853T>G (p.Leu618Arg)
n.616T>G
n.706T>G
n.374T>G
c.2105T>G (p.Leu702Arg)
c.1958T>G (p.Leu653Arg)
c.2032-2252T>G (n.2032-2252T>G)
c.1946T>G (p.Leu649Arg)
c.1925T>G (p.Leu642Arg)
c.2114T>G (p.Leu705Arg)
c.2033T>G (p.Leu678Arg)
c.1967T>G (p.Leu656Arg)
c.1847T>G (p.Leu616Arg)
c.1754T>G (p.Leu585Arg)
c.1490T>G (p.Leu497Arg)
c.1934T>G (p.Leu645Arg)
c.1859T>G (p.Leu620Arg)
1g.92607654A>GCA341152094EVI5c.1886T>C (p.Leu629Pro)
c.1877T>C (p.Leu626Pro)
c.*1734T>C (n.*1734T>C)
c.1901T>C (p.Leu634Pro)
c.1982T>C (p.Leu661Pro)
n.310-3855T>C
c.689T>C (p.Leu230Pro)
c.1766T>C (p.Leu589Pro)
c.1853T>C (p.Leu618Pro)
n.616T>C
n.706T>C
n.374T>C
c.2105T>C (p.Leu702Pro)
c.1958T>C (p.Leu653Pro)
c.2032-2252T>C (n.2032-2252T>C)
c.1946T>C (p.Leu649Pro)
c.1925T>C (p.Leu642Pro)
c.2114T>C (p.Leu705Pro)
c.2033T>C (p.Leu678Pro)
c.1967T>C (p.Leu656Pro)
c.1847T>C (p.Leu616Pro)
c.1754T>C (p.Leu585Pro)
c.1490T>C (p.Leu497Pro)
c.1934T>C (p.Leu645Pro)
c.1859T>C (p.Leu620Pro)
1g.92607654A>TCA341152096EVI5c.1886T>A (p.Leu629His)
c.1877T>A (p.Leu626His)
c.*1734T>A (n.*1734T>A)
c.1901T>A (p.Leu634His)
c.1982T>A (p.Leu661His)
n.310-3855T>A
c.689T>A (p.Leu230His)
c.1766T>A (p.Leu589His)
c.1853T>A (p.Leu618His)
n.616T>A
n.706T>A
n.374T>A
c.2105T>A (p.Leu702His)
c.1958T>A (p.Leu653His)
c.2032-2252T>A (n.2032-2252T>A)
c.1946T>A (p.Leu649His)
c.1925T>A (p.Leu642His)
c.2114T>A (p.Leu705His)
c.2033T>A (p.Leu678His)
c.1967T>A (p.Leu656His)
c.1847T>A (p.Leu616His)
c.1754T>A (p.Leu585His)
c.1490T>A (p.Leu497His)
c.1934T>A (p.Leu645His)
c.1859T>A (p.Leu620His)
1g.92607655G>ACA341152097EVI5c.1885C>T (p.Leu629Phe)
c.1876C>T (p.Leu626Phe)
c.*1733C>T (n.*1733C>T)
c.1900C>T (p.Leu634Phe)
c.1981C>T (p.Leu661Phe)
n.310-3856C>T
c.688C>T (p.Leu230Phe)
c.1765C>T (p.Leu589Phe)
c.1852C>T (p.Leu618Phe)
n.615C>T
n.705C>T
n.373C>T
c.2104C>T (p.Leu702Phe)
c.1957C>T (p.Leu653Phe)
c.2032-2253C>T (n.2032-2253C>T)
c.1945C>T (p.Leu649Phe)
c.1924C>T (p.Leu642Phe)
c.2113C>T (p.Leu705Phe)
c.2032C>T (p.Leu678Phe)
c.1966C>T (p.Leu656Phe)
c.1846C>T (p.Leu616Phe)
c.1753C>T (p.Leu585Phe)
c.1489C>T (p.Leu497Phe)
c.1933C>T (p.Leu645Phe)
c.1858C>T (p.Leu620Phe)
1g.92607655G>CCA341152099EVI5c.1885C>G (p.Leu629Val)
c.1876C>G (p.Leu626Val)
c.*1733C>G (n.*1733C>G)
c.1900C>G (p.Leu634Val)
c.1981C>G (p.Leu661Val)
n.310-3856C>G
c.688C>G (p.Leu230Val)
c.1765C>G (p.Leu589Val)
c.1852C>G (p.Leu618Val)
n.615C>G
n.705C>G
n.373C>G
c.2104C>G (p.Leu702Val)
c.1957C>G (p.Leu653Val)
c.2032-2253C>G (n.2032-2253C>G)
c.1945C>G (p.Leu649Val)
c.1924C>G (p.Leu642Val)
c.2113C>G (p.Leu705Val)
c.2032C>G (p.Leu678Val)
c.1966C>G (p.Leu656Val)
c.1846C>G (p.Leu616Val)
c.1753C>G (p.Leu585Val)
c.1489C>G (p.Leu497Val)
c.1933C>G (p.Leu645Val)
c.1858C>G (p.Leu620Val)
1g.92607655G>TCA341152101EVI5c.1885C>A (p.Leu629Ile)
c.1876C>A (p.Leu626Ile)
c.*1733C>A (n.*1733C>A)
c.1900C>A (p.Leu634Ile)
c.1981C>A (p.Leu661Ile)
n.310-3856C>A
c.688C>A (p.Leu230Ile)
c.1765C>A (p.Leu589Ile)
c.1852C>A (p.Leu618Ile)
n.615C>A
n.705C>A
n.373C>A
c.2104C>A (p.Leu702Ile)
c.1957C>A (p.Leu653Ile)
c.2032-2253C>A (n.2032-2253C>A)
c.1945C>A (p.Leu649Ile)
c.1924C>A (p.Leu642Ile)
c.2113C>A (p.Leu705Ile)
c.2032C>A (p.Leu678Ile)
c.1966C>A (p.Leu656Ile)
c.1846C>A (p.Leu616Ile)
c.1753C>A (p.Leu585Ile)
c.1489C>A (p.Leu497Ile)
c.1933C>A (p.Leu645Ile)
c.1858C>A (p.Leu620Ile)
1g.92607655_92607656insTGCCA2646588512EVI5c.1884_1885insGCA (p.Tyr628_Leu629insAla)
c.1875_1876insGCA (p.Tyr625_Leu626insAla)
c.*1732_*1733insGCA (n.*1732_*1733insGCA)
c.1899_1900insGCA (p.Tyr633_Leu634insAla)
c.1980_1981insGCA (p.Tyr660_Leu661insAla)
n.310-3857_310-3856insGCA
c.687_688insGCA (p.Tyr229_Leu230insAla)
c.1764_1765insGCA (p.Tyr588_Leu589insAla)
c.1851_1852insGCA (p.Tyr617_Leu618insAla)
n.614_615insGCA
n.704_705insGCA
n.372_373insGCA
c.2103_2104insGCA (p.Tyr701_Leu702insAla)
c.1956_1957insGCA (p.Tyr652_Leu653insAla)
c.2032-2254_2032-2253insGCA (n.2032-2254_2032-2253insGCA)
c.1944_1945insGCA (p.Tyr648_Leu649insAla)
c.1923_1924insGCA (p.Tyr641_Leu642insAla)
c.2112_2113insGCA (p.Tyr704_Leu705insAla)
c.2031_2032insGCA (p.Tyr677_Leu678insAla)
c.1965_1966insGCA (p.Tyr655_Leu656insAla)
c.1845_1846insGCA (p.Tyr615_Leu616insAla)
c.1752_1753insGCA (p.Tyr584_Leu585insAla)
c.1488_1489insGCA (p.Tyr496_Leu497insAla)
c.1932_1933insGCA (p.Tyr644_Leu645insAla)
c.1857_1858insGCA (p.Tyr619_Leu620insAla)
 gnomAD v4
1g.92607656A>CCA341152103EVI5c.1884T>G (p.Tyr628Ter)
c.1875T>G (p.Tyr625Ter)
c.*1732T>G (n.*1732T>G)
c.1899T>G (p.Tyr633Ter)
c.1980T>G (p.Tyr660Ter)
n.310-3857T>G
c.687T>G (p.Tyr229Ter)
c.1764T>G (p.Tyr588Ter)
c.1851T>G (p.Tyr617Ter)
n.614T>G
n.704T>G
n.372T>G
c.2103T>G (p.Tyr701Ter)
c.1956T>G (p.Tyr652Ter)
c.2032-2254T>G (n.2032-2254T>G)
c.1944T>G (p.Tyr648Ter)
c.1923T>G (p.Tyr641Ter)
c.2112T>G (p.Tyr704Ter)
c.2031T>G (p.Tyr677Ter)
c.1965T>G (p.Tyr655Ter)
c.1845T>G (p.Tyr615Ter)
c.1752T>G (p.Tyr584Ter)
c.1488T>G (p.Tyr496Ter)
c.1932T>G (p.Tyr644Ter)
c.1857T>G (p.Tyr619Ter)
1g.92607656A>GCA418958899EVI5c.1884T>C (p.Tyr628=)
c.1875T>C (p.Tyr625=)
c.*1732T>C (n.*1732T>C)
c.1899T>C (p.Tyr633=)
c.1980T>C (p.Tyr660=)
n.310-3857T>C
c.687T>C (p.Tyr229=)
c.1764T>C (p.Tyr588=)
c.1851T>C (p.Tyr617=)
n.614T>C
n.704T>C
n.372T>C
c.2103T>C (p.Tyr701=)
c.1956T>C (p.Tyr652=)
c.2032-2254T>C (n.2032-2254T>C)
c.1944T>C (p.Tyr648=)
c.1923T>C (p.Tyr641=)
c.2112T>C (p.Tyr704=)
c.2031T>C (p.Tyr677=)
c.1965T>C (p.Tyr655=)
c.1845T>C (p.Tyr615=)
c.1752T>C (p.Tyr584=)
c.1488T>C (p.Tyr496=)
c.1932T>C (p.Tyr644=)
c.1857T>C (p.Tyr619=)
1g.92607656A>TCA341152104EVI5c.1884T>A (p.Tyr628Ter)
c.1875T>A (p.Tyr625Ter)
c.*1732T>A (n.*1732T>A)
c.1899T>A (p.Tyr633Ter)
c.1980T>A (p.Tyr660Ter)
n.310-3857T>A
c.687T>A (p.Tyr229Ter)
c.1764T>A (p.Tyr588Ter)
c.1851T>A (p.Tyr617Ter)
n.614T>A
n.704T>A
n.372T>A
c.2103T>A (p.Tyr701Ter)
c.1956T>A (p.Tyr652Ter)
c.2032-2254T>A (n.2032-2254T>A)
c.1944T>A (p.Tyr648Ter)
c.1923T>A (p.Tyr641Ter)
c.2112T>A (p.Tyr704Ter)
c.2031T>A (p.Tyr677Ter)
c.1965T>A (p.Tyr655Ter)
c.1845T>A (p.Tyr615Ter)
c.1752T>A (p.Tyr584Ter)
c.1488T>A (p.Tyr496Ter)
c.1932T>A (p.Tyr644Ter)
c.1857T>A (p.Tyr619Ter)
1g.92607656_92607657insGCA2646588513EVI5c.1883_1884insC (p.Leu629SerfsTer14)
c.1874_1875insC (p.Leu626SerfsTer14)
c.*1731_*1732insC (n.*1731_*1732insC)
c.1898_1899insC (p.Leu634SerfsTer14)
c.1979_1980insC (p.Leu661SerfsTer14)
n.310-3858_310-3857insC
c.686_687insC (p.Leu230SerfsTer14)
c.1763_1764insC (p.Leu589SerfsTer14)
c.1850_1851insC (p.Leu618SerfsTer14)
n.613_614insC
n.703_704insC
n.371_372insC
c.2102_2103insC (p.Leu702SerfsTer14)
c.1955_1956insC (p.Leu653SerfsTer14)
c.2032-2255_2032-2254insC (n.2032-2255_2032-2254insC)
c.1943_1944insC (p.Leu649SerfsTer14)
c.1922_1923insC (p.Leu642SerfsTer14)
c.2111_2112insC (p.Leu705SerfsTer14)
c.2030_2031insC (p.Leu678SerfsTer14)
c.1964_1965insC (p.Leu656SerfsTer14)
c.1844_1845insC (p.Leu616SerfsTer14)
c.1751_1752insC (p.Leu585SerfsTer14)
c.1487_1488insC (p.Leu497SerfsTer14)
c.1931_1932insC (p.Leu645SerfsTer14)
c.1856_1857insC (p.Leu620SerfsTer14)
 gnomAD v4
1g.92607657T>ACA341152110EVI5c.1883A>T (p.Tyr628Phe)
c.1874A>T (p.Tyr625Phe)
c.*1731A>T (n.*1731A>T)
c.1898A>T (p.Tyr633Phe)
c.1979A>T (p.Tyr660Phe)
n.310-3858A>T
c.686A>T (p.Tyr229Phe)
c.1763A>T (p.Tyr588Phe)
c.1850A>T (p.Tyr617Phe)
n.613A>T
n.703A>T
n.371A>T
c.2102A>T (p.Tyr701Phe)
c.1955A>T (p.Tyr652Phe)
c.2032-2255A>T (n.2032-2255A>T)
c.1943A>T (p.Tyr648Phe)
c.1922A>T (p.Tyr641Phe)
c.2111A>T (p.Tyr704Phe)
c.2030A>T (p.Tyr677Phe)
c.1964A>T (p.Tyr655Phe)
c.1844A>T (p.Tyr615Phe)
c.1751A>T (p.Tyr584Phe)
c.1487A>T (p.Tyr496Phe)
c.1931A>T (p.Tyr644Phe)
c.1856A>T (p.Tyr619Phe)
1g.92607657T>CCA341152108EVI5c.1883A>G (p.Tyr628Cys)
c.1874A>G (p.Tyr625Cys)
c.*1731A>G (n.*1731A>G)
c.1898A>G (p.Tyr633Cys)
c.1979A>G (p.Tyr660Cys)
n.310-3858A>G
c.686A>G (p.Tyr229Cys)
c.1763A>G (p.Tyr588Cys)
c.1850A>G (p.Tyr617Cys)
n.613A>G
n.703A>G
n.371A>G
c.2102A>G (p.Tyr701Cys)
c.1955A>G (p.Tyr652Cys)
c.2032-2255A>G (n.2032-2255A>G)
c.1943A>G (p.Tyr648Cys)
c.1922A>G (p.Tyr641Cys)
c.2111A>G (p.Tyr704Cys)
c.2030A>G (p.Tyr677Cys)
c.1964A>G (p.Tyr655Cys)
c.1844A>G (p.Tyr615Cys)
c.1751A>G (p.Tyr584Cys)
c.1487A>G (p.Tyr496Cys)
c.1931A>G (p.Tyr644Cys)
c.1856A>G (p.Tyr619Cys)
 dbSNP gnomAD v4
1g.92607657T>GCA341152107EVI5c.1883A>C (p.Tyr628Ser)
c.1874A>C (p.Tyr625Ser)
c.*1731A>C (n.*1731A>C)
c.1898A>C (p.Tyr633Ser)
c.1979A>C (p.Tyr660Ser)
n.310-3858A>C
c.686A>C (p.Tyr229Ser)
c.1763A>C (p.Tyr588Ser)
c.1850A>C (p.Tyr617Ser)
n.613A>C
n.703A>C
n.371A>C
c.2102A>C (p.Tyr701Ser)
c.1955A>C (p.Tyr652Ser)
c.2032-2255A>C (n.2032-2255A>C)
c.1943A>C (p.Tyr648Ser)
c.1922A>C (p.Tyr641Ser)
c.2111A>C (p.Tyr704Ser)
c.2030A>C (p.Tyr677Ser)
c.1964A>C (p.Tyr655Ser)
c.1844A>C (p.Tyr615Ser)
c.1751A>C (p.Tyr584Ser)
c.1487A>C (p.Tyr496Ser)
c.1931A>C (p.Tyr644Ser)
c.1856A>C (p.Tyr619Ser)
1g.92607657T=CA1180836777EVI5c.1883A= (p.Tyr628=)
c.1874A= (p.Tyr625=)
c.*1731A= (n.*1731A=)
c.1898A= (p.Tyr633=)
c.1979A= (p.Tyr660=)
n.310-3858A=
c.686A= (p.Tyr229=)
c.1763A= (p.Tyr588=)
c.1850A= (p.Tyr617=)
n.613A=
n.703A=
n.371A=
c.2102A= (p.Tyr701=)
c.1955A= (p.Tyr652=)
c.2032-2255A= (n.2032-2255A=)
c.1943A= (p.Tyr648=)
c.1922A= (p.Tyr641=)
c.2111A= (p.Tyr704=)
c.2030A= (p.Tyr677=)
c.1964A= (p.Tyr655=)
c.1844A= (p.Tyr615=)
c.1751A= (p.Tyr584=)
c.1487A= (p.Tyr496=)
c.1931A= (p.Tyr644=)
c.1856A= (p.Tyr619=)
1g.92607658A>CCA341152111EVI5c.1882T>G (p.Tyr628Asp)
c.1873T>G (p.Tyr625Asp)
c.*1730T>G (n.*1730T>G)
c.1897T>G (p.Tyr633Asp)
c.1978T>G (p.Tyr660Asp)
n.310-3859T>G
c.685T>G (p.Tyr229Asp)
c.1762T>G (p.Tyr588Asp)
c.1849T>G (p.Tyr617Asp)
n.612T>G
n.702T>G
n.370T>G
c.2101T>G (p.Tyr701Asp)
c.1954T>G (p.Tyr652Asp)
c.2032-2256T>G (n.2032-2256T>G)
c.1942T>G (p.Tyr648Asp)
c.1921T>G (p.Tyr641Asp)
c.2110T>G (p.Tyr704Asp)
c.2029T>G (p.Tyr677Asp)
c.1963T>G (p.Tyr655Asp)
c.1843T>G (p.Tyr615Asp)
c.1750T>G (p.Tyr584Asp)
c.1486T>G (p.Tyr496Asp)
c.1930T>G (p.Tyr644Asp)
c.1855T>G (p.Tyr619Asp)
1g.92607658A>GCA341152114EVI5c.1882T>C (p.Tyr628His)
c.1873T>C (p.Tyr625His)
c.*1730T>C (n.*1730T>C)
c.1897T>C (p.Tyr633His)
c.1978T>C (p.Tyr660His)
n.310-3859T>C
c.685T>C (p.Tyr229His)
c.1762T>C (p.Tyr588His)
c.1849T>C (p.Tyr617His)
n.612T>C
n.702T>C
n.370T>C
c.2101T>C (p.Tyr701His)
c.1954T>C (p.Tyr652His)
c.2032-2256T>C (n.2032-2256T>C)
c.1942T>C (p.Tyr648His)
c.1921T>C (p.Tyr641His)
c.2110T>C (p.Tyr704His)
c.2029T>C (p.Tyr677His)
c.1963T>C (p.Tyr655His)
c.1843T>C (p.Tyr615His)
c.1750T>C (p.Tyr584His)
c.1486T>C (p.Tyr496His)
c.1930T>C (p.Tyr644His)
c.1855T>C (p.Tyr619His)
1g.92607658A>TCA341152116EVI5c.1882T>A (p.Tyr628Asn)
c.1873T>A (p.Tyr625Asn)
c.*1730T>A (n.*1730T>A)
c.1897T>A (p.Tyr633Asn)
c.1978T>A (p.Tyr660Asn)
n.310-3859T>A
c.685T>A (p.Tyr229Asn)
c.1762T>A (p.Tyr588Asn)
c.1849T>A (p.Tyr617Asn)
n.612T>A
n.702T>A
n.370T>A
c.2101T>A (p.Tyr701Asn)
c.1954T>A (p.Tyr652Asn)
c.2032-2256T>A (n.2032-2256T>A)
c.1942T>A (p.Tyr648Asn)
c.1921T>A (p.Tyr641Asn)
c.2110T>A (p.Tyr704Asn)
c.2029T>A (p.Tyr677Asn)
c.1963T>A (p.Tyr655Asn)
c.1843T>A (p.Tyr615Asn)
c.1750T>A (p.Tyr584Asn)
c.1486T>A (p.Tyr496Asn)
c.1930T>A (p.Tyr644Asn)
c.1855T>A (p.Tyr619Asn)
1g.92607658_92607659insTCTTTCA2646588514EVI5c.1881_1882insAAAGA (p.Tyr628LysfsTer15)
c.1872_1873insAAAGA (p.Tyr625LysfsTer15)
c.*1729_*1730insAAAGA (n.*1729_*1730insAAAGA)
c.1896_1897insAAAGA (p.Tyr633LysfsTer15)
c.1977_1978insAAAGA (p.Tyr660LysfsTer15)
n.310-3860_310-3859insAAAGA
c.684_685insAAAGA (p.Tyr229LysfsTer15)
c.1761_1762insAAAGA (p.Tyr588LysfsTer15)
c.1848_1849insAAAGA (p.Tyr617LysfsTer15)
n.611_612insAAAGA
n.701_702insAAAGA
n.369_370insAAAGA
c.2100_2101insAAAGA (p.Tyr701LysfsTer15)
c.1953_1954insAAAGA (p.Tyr652LysfsTer15)
c.2032-2257_2032-2256insAAAGA (n.2032-2257_2032-2256insAAAGA)
c.1941_1942insAAAGA (p.Tyr648LysfsTer15)
c.1920_1921insAAAGA (p.Tyr641LysfsTer15)
c.2109_2110insAAAGA (p.Tyr704LysfsTer15)
c.2028_2029insAAAGA (p.Tyr677LysfsTer15)
c.1962_1963insAAAGA (p.Tyr655LysfsTer15)
c.1842_1843insAAAGA (p.Tyr615LysfsTer15)
c.1749_1750insAAAGA (p.Tyr584LysfsTer15)
c.1485_1486insAAAGA (p.Tyr496LysfsTer15)
c.1929_1930insAAAGA (p.Tyr644LysfsTer15)
c.1854_1855insAAAGA (p.Tyr619LysfsTer15)
 gnomAD v4
1g.92607659C>ACA341152117EVI5c.1881G>T (p.Gln627His)
c.1872G>T (p.Gln624His)
c.*1729G>T (n.*1729G>T)
c.1896G>T (p.Gln632His)
c.1977G>T (p.Gln659His)
n.310-3860G>T
c.684G>T (p.Gln228His)
c.1761G>T (p.Gln587His)
c.1848G>T (p.Gln616His)
n.611G>T
n.701G>T
n.369G>T
c.2100G>T (p.Gln700His)
c.1953G>T (p.Gln651His)
c.2032-2257G>T (n.2032-2257G>T)
c.1941G>T (p.Gln647His)
c.1920G>T (p.Gln640His)
c.2109G>T (p.Gln703His)
c.2028G>T (p.Gln676His)
c.1962G>T (p.Gln654His)
c.1842G>T (p.Gln614His)
c.1749G>T (p.Gln583His)
c.1485G>T (p.Gln495His)
c.1929G>T (p.Gln643His)
c.1854G>T (p.Gln618His)
1g.92607659C=CA1180836780EVI5c.1881G= (p.Gln627=)
c.1872G= (p.Gln624=)
c.*1729G= (n.*1729G=)
c.1896G= (p.Gln632=)
c.1977G= (p.Gln659=)
n.310-3860G=
c.684G= (p.Gln228=)
c.1761G= (p.Gln587=)
c.1848G= (p.Gln616=)
n.611G=
n.701G=
n.369G=
c.2100G= (p.Gln700=)
c.1953G= (p.Gln651=)
c.2032-2257G= (n.2032-2257G=)
c.1941G= (p.Gln647=)
c.1920G= (p.Gln640=)
c.2109G= (p.Gln703=)
c.2028G= (p.Gln676=)
c.1962G= (p.Gln654=)
c.1842G= (p.Gln614=)
c.1749G= (p.Gln583=)
c.1485G= (p.Gln495=)
c.1929G= (p.Gln643=)
c.1854G= (p.Gln618=)
1g.92607659C>GCA341152118EVI5c.1881G>C (p.Gln627His)
c.1872G>C (p.Gln624His)
c.*1729G>C (n.*1729G>C)
c.1896G>C (p.Gln632His)
c.1977G>C (p.Gln659His)
n.310-3860G>C
c.684G>C (p.Gln228His)
c.1761G>C (p.Gln587His)
c.1848G>C (p.Gln616His)
n.611G>C
n.701G>C
n.369G>C
c.2100G>C (p.Gln700His)
c.1953G>C (p.Gln651His)
c.2032-2257G>C (n.2032-2257G>C)
c.1941G>C (p.Gln647His)
c.1920G>C (p.Gln640His)
c.2109G>C (p.Gln703His)
c.2028G>C (p.Gln676His)
c.1962G>C (p.Gln654His)
c.1842G>C (p.Gln614His)
c.1749G>C (p.Gln583His)
c.1485G>C (p.Gln495His)
c.1929G>C (p.Gln643His)
c.1854G>C (p.Gln618His)
 gnomAD v4
1g.92607659C>TCA418958909EVI5c.1881G>A (p.Gln627=)
c.1872G>A (p.Gln624=)
c.*1729G>A (n.*1729G>A)
c.1896G>A (p.Gln632=)
c.1977G>A (p.Gln659=)
n.310-3860G>A
c.684G>A (p.Gln228=)
c.1761G>A (p.Gln587=)
c.1848G>A (p.Gln616=)
n.611G>A
n.701G>A
n.369G>A
c.2100G>A (p.Gln700=)
c.1953G>A (p.Gln651=)
c.2032-2257G>A (n.2032-2257G>A)
c.1941G>A (p.Gln647=)
c.1920G>A (p.Gln640=)
c.2109G>A (p.Gln703=)
c.2028G>A (p.Gln676=)
c.1962G>A (p.Gln654=)
c.1842G>A (p.Gln614=)
c.1749G>A (p.Gln583=)
c.1485G>A (p.Gln495=)
c.1929G>A (p.Gln643=)
c.1854G>A (p.Gln618=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.92607660T>ACA341152123EVI5c.1880A>T (p.Gln627Leu)
c.1871A>T (p.Gln624Leu)
c.*1728A>T (n.*1728A>T)
c.1895A>T (p.Gln632Leu)
c.1976A>T (p.Gln659Leu)
n.310-3861A>T
c.683A>T (p.Gln228Leu)
c.1760A>T (p.Gln587Leu)
c.1847A>T (p.Gln616Leu)
n.610A>T
n.700A>T
n.368A>T
c.2099A>T (p.Gln700Leu)
c.1952A>T (p.Gln651Leu)
c.2032-2258A>T (n.2032-2258A>T)
c.1940A>T (p.Gln647Leu)
c.1919A>T (p.Gln640Leu)
c.2108A>T (p.Gln703Leu)
c.2027A>T (p.Gln676Leu)
c.1961A>T (p.Gln654Leu)
c.1841A>T (p.Gln614Leu)
c.1748A>T (p.Gln583Leu)
c.1484A>T (p.Gln495Leu)
c.1928A>T (p.Gln643Leu)
c.1853A>T (p.Gln618Leu)
1g.92607660T>CCA951688EVI5c.1880A>G (p.Gln627Arg)
c.1871A>G (p.Gln624Arg)
c.*1728A>G (n.*1728A>G)
c.1895A>G (p.Gln632Arg)
c.1976A>G (p.Gln659Arg)
n.310-3861A>G
c.683A>G (p.Gln228Arg)
c.1760A>G (p.Gln587Arg)
c.1847A>G (p.Gln616Arg)
n.610A>G
n.700A>G
n.368A>G
c.2099A>G (p.Gln700Arg)
c.1952A>G (p.Gln651Arg)
c.2032-2258A>G (n.2032-2258A>G)
c.1940A>G (p.Gln647Arg)
c.1919A>G (p.Gln640Arg)
c.2108A>G (p.Gln703Arg)
c.2027A>G (p.Gln676Arg)
c.1961A>G (p.Gln654Arg)
c.1841A>G (p.Gln614Arg)
c.1748A>G (p.Gln583Arg)
c.1484A>G (p.Gln495Arg)
c.1928A>G (p.Gln643Arg)
c.1853A>G (p.Gln618Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.92607660T>GCA341152120EVI5c.1880A>C (p.Gln627Pro)
c.1871A>C (p.Gln624Pro)
c.*1728A>C (n.*1728A>C)
c.1895A>C (p.Gln632Pro)
c.1976A>C (p.Gln659Pro)
n.310-3861A>C
c.683A>C (p.Gln228Pro)
c.1760A>C (p.Gln587Pro)
c.1847A>C (p.Gln616Pro)
n.610A>C
n.700A>C
n.368A>C
c.2099A>C (p.Gln700Pro)
c.1952A>C (p.Gln651Pro)
c.2032-2258A>C (n.2032-2258A>C)
c.1940A>C (p.Gln647Pro)
c.1919A>C (p.Gln640Pro)
c.2108A>C (p.Gln703Pro)
c.2027A>C (p.Gln676Pro)
c.1961A>C (p.Gln654Pro)
c.1841A>C (p.Gln614Pro)
c.1748A>C (p.Gln583Pro)
c.1484A>C (p.Gln495Pro)
c.1928A>C (p.Gln643Pro)
c.1853A>C (p.Gln618Pro)
 gnomAD v4
1g.92607660T=CA1180836784EVI5c.1880A= (p.Gln627=)
c.1871A= (p.Gln624=)
c.*1728A= (n.*1728A=)
c.1895A= (p.Gln632=)
c.1976A= (p.Gln659=)
n.310-3861A=
c.683A= (p.Gln228=)
c.1760A= (p.Gln587=)
c.1847A= (p.Gln616=)
n.610A=
n.700A=
n.368A=
c.2099A= (p.Gln700=)
c.1952A= (p.Gln651=)
c.2032-2258A= (n.2032-2258A=)
c.1940A= (p.Gln647=)
c.1919A= (p.Gln640=)
c.2108A= (p.Gln703=)
c.2027A= (p.Gln676=)
c.1961A= (p.Gln654=)
c.1841A= (p.Gln614=)
c.1748A= (p.Gln583=)
c.1484A= (p.Gln495=)
c.1928A= (p.Gln643=)
c.1853A= (p.Gln618=)
1g.92607661G>ACA341152125EVI5c.1879C>T (p.Gln627Ter)
c.1870C>T (p.Gln624Ter)
c.*1727C>T (n.*1727C>T)
c.1894C>T (p.Gln632Ter)
c.1975C>T (p.Gln659Ter)
n.310-3862C>T
c.682C>T (p.Gln228Ter)
c.1759C>T (p.Gln587Ter)
c.1846C>T (p.Gln616Ter)
n.609C>T
n.699C>T
n.367C>T
c.2098C>T (p.Gln700Ter)
c.1951C>T (p.Gln651Ter)
c.2032-2259C>T (n.2032-2259C>T)
c.1939C>T (p.Gln647Ter)
c.1918C>T (p.Gln640Ter)
c.2107C>T (p.Gln703Ter)
c.2026C>T (p.Gln676Ter)
c.1960C>T (p.Gln654Ter)
c.1840C>T (p.Gln614Ter)
c.1747C>T (p.Gln583Ter)
c.1483C>T (p.Gln495Ter)
c.1927C>T (p.Gln643Ter)
c.1852C>T (p.Gln618Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.92607661G>CCA341152126EVI5c.1879C>G (p.Gln627Glu)
c.1870C>G (p.Gln624Glu)
c.*1727C>G (n.*1727C>G)
c.1894C>G (p.Gln632Glu)
c.1975C>G (p.Gln659Glu)
n.310-3862C>G
c.682C>G (p.Gln228Glu)
c.1759C>G (p.Gln587Glu)
c.1846C>G (p.Gln616Glu)
n.609C>G
n.699C>G
n.367C>G
c.2098C>G (p.Gln700Glu)
c.1951C>G (p.Gln651Glu)
c.2032-2259C>G (n.2032-2259C>G)
c.1939C>G (p.Gln647Glu)
c.1918C>G (p.Gln640Glu)
c.2107C>G (p.Gln703Glu)
c.2026C>G (p.Gln676Glu)
c.1960C>G (p.Gln654Glu)
c.1840C>G (p.Gln614Glu)
c.1747C>G (p.Gln583Glu)
c.1483C>G (p.Gln495Glu)
c.1927C>G (p.Gln643Glu)
c.1852C>G (p.Gln618Glu)
1g.92607661G=CA1180836785EVI5c.1879C= (p.Gln627=)
c.1870C= (p.Gln624=)
c.*1727C= (n.*1727C=)
c.1894C= (p.Gln632=)
c.1975C= (p.Gln659=)
n.310-3862C=
c.682C= (p.Gln228=)
c.1759C= (p.Gln587=)
c.1846C= (p.Gln616=)
n.609C=
n.699C=
n.367C=
c.2098C= (p.Gln700=)
c.1951C= (p.Gln651=)
c.2032-2259C= (n.2032-2259C=)
c.1939C= (p.Gln647=)
c.1918C= (p.Gln640=)
c.2107C= (p.Gln703=)
c.2026C= (p.Gln676=)
c.1960C= (p.Gln654=)
c.1840C= (p.Gln614=)
c.1747C= (p.Gln583=)
c.1483C= (p.Gln495=)
c.1927C= (p.Gln643=)
c.1852C= (p.Gln618=)
1g.92607661G>TCA341152128EVI5c.1879C>A (p.Gln627Lys)
c.1870C>A (p.Gln624Lys)
c.*1727C>A (n.*1727C>A)
c.1894C>A (p.Gln632Lys)
c.1975C>A (p.Gln659Lys)
n.310-3862C>A
c.682C>A (p.Gln228Lys)
c.1759C>A (p.Gln587Lys)
c.1846C>A (p.Gln616Lys)
n.609C>A
n.699C>A
n.367C>A
c.2098C>A (p.Gln700Lys)
c.1951C>A (p.Gln651Lys)
c.2032-2259C>A (n.2032-2259C>A)
c.1939C>A (p.Gln647Lys)
c.1918C>A (p.Gln640Lys)
c.2107C>A (p.Gln703Lys)
c.2026C>A (p.Gln676Lys)
c.1960C>A (p.Gln654Lys)
c.1840C>A (p.Gln614Lys)
c.1747C>A (p.Gln583Lys)
c.1483C>A (p.Gln495Lys)
c.1927C>A (p.Gln643Lys)
c.1852C>A (p.Gln618Lys)
 gnomAD v4
1g.92607662C>ACA418958922EVI5c.1878G>T (p.Val626=)
c.1869G>T (p.Val623=)
c.*1726G>T (n.*1726G>T)
c.1893G>T (p.Val631=)
c.1974G>T (p.Val658=)
n.310-3863G>T
c.681G>T (p.Val227=)
c.1758G>T (p.Val586=)
c.1845G>T (p.Val615=)
n.608G>T
n.698G>T
n.366G>T
c.2097G>T (p.Val699=)
c.1950G>T (p.Val650=)
c.2032-2260G>T (n.2032-2260G>T)
c.1938G>T (p.Val646=)
c.1917G>T (p.Val639=)
c.2106G>T (p.Val702=)
c.2025G>T (p.Val675=)
c.1959G>T (p.Val653=)
c.1839G>T (p.Val613=)
c.1746G>T (p.Val582=)
c.1482G>T (p.Val494=)
c.1926G>T (p.Val642=)
c.1851G>T (p.Val617=)
 gnomAD v4
1g.92607662C>GCA418958924EVI5c.1878G>C (p.Val626=)
c.1869G>C (p.Val623=)
c.*1726G>C (n.*1726G>C)
c.1893G>C (p.Val631=)
c.1974G>C (p.Val658=)
n.310-3863G>C
c.681G>C (p.Val227=)
c.1758G>C (p.Val586=)
c.1845G>C (p.Val615=)
n.608G>C
n.698G>C
n.366G>C
c.2097G>C (p.Val699=)
c.1950G>C (p.Val650=)
c.2032-2260G>C (n.2032-2260G>C)
c.1938G>C (p.Val646=)
c.1917G>C (p.Val639=)
c.2106G>C (p.Val702=)
c.2025G>C (p.Val675=)
c.1959G>C (p.Val653=)
c.1839G>C (p.Val613=)
c.1746G>C (p.Val582=)
c.1482G>C (p.Val494=)
c.1926G>C (p.Val642=)
c.1851G>C (p.Val617=)
1g.92607662C>TCA418958927EVI5c.1878G>A (p.Val626=)
c.1869G>A (p.Val623=)
c.*1726G>A (n.*1726G>A)
c.1893G>A (p.Val631=)
c.1974G>A (p.Val658=)
n.310-3863G>A
c.681G>A (p.Val227=)
c.1758G>A (p.Val586=)
c.1845G>A (p.Val615=)
n.608G>A
n.698G>A
n.366G>A
c.2097G>A (p.Val699=)
c.1950G>A (p.Val650=)
c.2032-2260G>A (n.2032-2260G>A)
c.1938G>A (p.Val646=)
c.1917G>A (p.Val639=)
c.2106G>A (p.Val702=)
c.2025G>A (p.Val675=)
c.1959G>A (p.Val653=)
c.1839G>A (p.Val613=)
c.1746G>A (p.Val582=)
c.1482G>A (p.Val494=)
c.1926G>A (p.Val642=)
c.1851G>A (p.Val617=)
1g.92607663A=CA1143483097EVI5c.1877T= (p.Val626=)
c.1868T= (p.Val623=)
c.*1725T= (n.*1725T=)
c.1892T= (p.Val631=)
c.1973T= (p.Val658=)
n.310-3864T=
c.680T= (p.Val227=)
c.1757T= (p.Val586=)
c.1844T= (p.Val615=)
n.607T=
n.697T=
n.365T=
c.2096T= (p.Val699=)
c.1949T= (p.Val650=)
c.2032-2261T= (n.2032-2261T=)
c.1937T= (p.Val646=)
c.1916T= (p.Val639=)
c.2105T= (p.Val702=)
c.2024T= (p.Val675=)
c.1958T= (p.Val653=)
c.1838T= (p.Val613=)
c.1745T= (p.Val582=)
c.1481T= (p.Val494=)
c.1925T= (p.Val642=)
c.1850T= (p.Val617=)
1g.92607663A>CCA341152129EVI5c.1877T>G (p.Val626Gly)
c.1868T>G (p.Val623Gly)
c.*1725T>G (n.*1725T>G)
c.1892T>G (p.Val631Gly)
c.1973T>G (p.Val658Gly)
n.310-3864T>G
c.680T>G (p.Val227Gly)
c.1757T>G (p.Val586Gly)
c.1844T>G (p.Val615Gly)
n.607T>G
n.697T>G
n.365T>G
c.2096T>G (p.Val699Gly)
c.1949T>G (p.Val650Gly)
c.2032-2261T>G (n.2032-2261T>G)
c.1937T>G (p.Val646Gly)
c.1916T>G (p.Val639Gly)
c.2105T>G (p.Val702Gly)
c.2024T>G (p.Val675Gly)
c.1958T>G (p.Val653Gly)
c.1838T>G (p.Val613Gly)
c.1745T>G (p.Val582Gly)
c.1481T>G (p.Val494Gly)
c.1925T>G (p.Val642Gly)
c.1850T>G (p.Val617Gly)
1g.92607663A>GCA27104235EVI5c.1877T>C (p.Val626Ala)
c.1868T>C (p.Val623Ala)
c.*1725T>C (n.*1725T>C)
c.1892T>C (p.Val631Ala)
c.1973T>C (p.Val658Ala)
n.310-3864T>C
c.680T>C (p.Val227Ala)
c.1757T>C (p.Val586Ala)
c.1844T>C (p.Val615Ala)
n.607T>C
n.697T>C
n.365T>C
c.2096T>C (p.Val699Ala)
c.1949T>C (p.Val650Ala)
c.2032-2261T>C (n.2032-2261T>C)
c.1937T>C (p.Val646Ala)
c.1916T>C (p.Val639Ala)
c.2105T>C (p.Val702Ala)
c.2024T>C (p.Val675Ala)
c.1958T>C (p.Val653Ala)
c.1838T>C (p.Val613Ala)
c.1745T>C (p.Val582Ala)
c.1481T>C (p.Val494Ala)
c.1925T>C (p.Val642Ala)
c.1850T>C (p.Val617Ala)
 dbSNP gnomAD v4
1g.92607663A>TCA341152132EVI5c.1877T>A (p.Val626Glu)
c.1868T>A (p.Val623Glu)
c.*1725T>A (n.*1725T>A)
c.1892T>A (p.Val631Glu)
c.1973T>A (p.Val658Glu)
n.310-3864T>A
c.680T>A (p.Val227Glu)
c.1757T>A (p.Val586Glu)
c.1844T>A (p.Val615Glu)
n.607T>A
n.697T>A
n.365T>A
c.2096T>A (p.Val699Glu)
c.1949T>A (p.Val650Glu)
c.2032-2261T>A (n.2032-2261T>A)
c.1937T>A (p.Val646Glu)
c.1916T>A (p.Val639Glu)
c.2105T>A (p.Val702Glu)
c.2024T>A (p.Val675Glu)
c.1958T>A (p.Val653Glu)
c.1838T>A (p.Val613Glu)
c.1745T>A (p.Val582Glu)
c.1481T>A (p.Val494Glu)
c.1925T>A (p.Val642Glu)
c.1850T>A (p.Val617Glu)
1g.92607664C>ACA341152134EVI5c.1876G>T (p.Val626Leu)
c.1867G>T (p.Val623Leu)
c.*1724G>T (n.*1724G>T)
c.1891G>T (p.Val631Leu)
c.1972G>T (p.Val658Leu)
n.310-3865G>T
c.679G>T (p.Val227Leu)
c.1756G>T (p.Val586Leu)
c.1843G>T (p.Val615Leu)
n.606G>T
n.696G>T
n.364G>T
c.2095G>T (p.Val699Leu)
c.1948G>T (p.Val650Leu)
c.2032-2262G>T (n.2032-2262G>T)
c.1936G>T (p.Val646Leu)
c.1915G>T (p.Val639Leu)
c.2104G>T (p.Val702Leu)
c.2023G>T (p.Val675Leu)
c.1957G>T (p.Val653Leu)
c.1837G>T (p.Val613Leu)
c.1744G>T (p.Val582Leu)
c.1480G>T (p.Val494Leu)
c.1924G>T (p.Val642Leu)
c.1849G>T (p.Val617Leu)
1g.92607664C=CA1180836788EVI5c.1876G= (p.Val626=)
c.1867G= (p.Val623=)
c.*1724G= (n.*1724G=)
c.1891G= (p.Val631=)
c.1972G= (p.Val658=)
n.310-3865G=
c.679G= (p.Val227=)
c.1756G= (p.Val586=)
c.1843G= (p.Val615=)
n.606G=
n.696G=
n.364G=
c.2095G= (p.Val699=)
c.1948G= (p.Val650=)
c.2032-2262G= (n.2032-2262G=)
c.1936G= (p.Val646=)
c.1915G= (p.Val639=)
c.2104G= (p.Val702=)
c.2023G= (p.Val675=)
c.1957G= (p.Val653=)
c.1837G= (p.Val613=)
c.1744G= (p.Val582=)
c.1480G= (p.Val494=)
c.1924G= (p.Val642=)
c.1849G= (p.Val617=)
1g.92607664C>GCA341152136EVI5c.1876G>C (p.Val626Leu)
c.1867G>C (p.Val623Leu)
c.*1724G>C (n.*1724G>C)
c.1891G>C (p.Val631Leu)
c.1972G>C (p.Val658Leu)
n.310-3865G>C
c.679G>C (p.Val227Leu)
c.1756G>C (p.Val586Leu)
c.1843G>C (p.Val615Leu)
n.606G>C
n.696G>C
n.364G>C
c.2095G>C (p.Val699Leu)
c.1948G>C (p.Val650Leu)
c.2032-2262G>C (n.2032-2262G>C)
c.1936G>C (p.Val646Leu)
c.1915G>C (p.Val639Leu)
c.2104G>C (p.Val702Leu)
c.2023G>C (p.Val675Leu)
c.1957G>C (p.Val653Leu)
c.1837G>C (p.Val613Leu)
c.1744G>C (p.Val582Leu)
c.1480G>C (p.Val494Leu)
c.1924G>C (p.Val642Leu)
c.1849G>C (p.Val617Leu)
1g.92607664C>TCA951689EVI5c.1876G>A (p.Val626Met)
c.1867G>A (p.Val623Met)
c.*1724G>A (n.*1724G>A)
c.1891G>A (p.Val631Met)
c.1972G>A (p.Val658Met)
n.310-3865G>A
c.679G>A (p.Val227Met)
c.1756G>A (p.Val586Met)
c.1843G>A (p.Val615Met)
n.606G>A
n.696G>A
n.364G>A
c.2095G>A (p.Val699Met)
c.1948G>A (p.Val650Met)
c.2032-2262G>A (n.2032-2262G>A)
c.1936G>A (p.Val646Met)
c.1915G>A (p.Val639Met)
c.2104G>A (p.Val702Met)
c.2023G>A (p.Val675Met)
c.1957G>A (p.Val653Met)
c.1837G>A (p.Val613Met)
c.1744G>A (p.Val582Met)
c.1480G>A (p.Val494Met)
c.1924G>A (p.Val642Met)
c.1849G>A (p.Val617Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.92607665T>ACA341152139EVI5c.1875A>T (p.Lys625Asn)
c.1866A>T (p.Lys622Asn)
c.*1723A>T (n.*1723A>T)
c.1890A>T (p.Lys630Asn)
c.1971A>T (p.Lys657Asn)
n.310-3866A>T
c.678A>T (p.Lys226Asn)
c.1755A>T (p.Lys585Asn)
c.1842A>T (p.Lys614Asn)
n.605A>T
n.695A>T
n.363A>T
c.2094A>T (p.Lys698Asn)
c.1947A>T (p.Lys649Asn)
c.2032-2263A>T (n.2032-2263A>T)
c.1935A>T (p.Lys645Asn)
c.1914A>T (p.Lys638Asn)
c.2103A>T (p.Lys701Asn)
c.2022A>T (p.Lys674Asn)
c.1956A>T (p.Lys652Asn)
c.1836A>T (p.Lys612Asn)
c.1743A>T (p.Lys581Asn)
c.1479A>T (p.Lys493Asn)
c.1923A>T (p.Lys641Asn)
c.1848A>T (p.Lys616Asn)
1g.92607665T>CCA418958940EVI5c.1875A>G (p.Lys625=)
c.1866A>G (p.Lys622=)
c.*1723A>G (n.*1723A>G)
c.1890A>G (p.Lys630=)
c.1971A>G (p.Lys657=)
n.310-3866A>G
c.678A>G (p.Lys226=)
c.1755A>G (p.Lys585=)
c.1842A>G (p.Lys614=)
n.605A>G
n.695A>G
n.363A>G
c.2094A>G (p.Lys698=)
c.1947A>G (p.Lys649=)
c.2032-2263A>G (n.2032-2263A>G)
c.1935A>G (p.Lys645=)
c.1914A>G (p.Lys638=)
c.2103A>G (p.Lys701=)
c.2022A>G (p.Lys674=)
c.1956A>G (p.Lys652=)
c.1836A>G (p.Lys612=)
c.1743A>G (p.Lys581=)
c.1479A>G (p.Lys493=)
c.1923A>G (p.Lys641=)
c.1848A>G (p.Lys616=)
 gnomAD v4
1g.92607665T>GCA341152140EVI5c.1875A>C (p.Lys625Asn)
c.1866A>C (p.Lys622Asn)
c.*1723A>C (n.*1723A>C)
c.1890A>C (p.Lys630Asn)
c.1971A>C (p.Lys657Asn)
n.310-3866A>C
c.678A>C (p.Lys226Asn)
c.1755A>C (p.Lys585Asn)
c.1842A>C (p.Lys614Asn)
n.605A>C
n.695A>C
n.363A>C
c.2094A>C (p.Lys698Asn)
c.1947A>C (p.Lys649Asn)
c.2032-2263A>C (n.2032-2263A>C)
c.1935A>C (p.Lys645Asn)
c.1914A>C (p.Lys638Asn)
c.2103A>C (p.Lys701Asn)
c.2022A>C (p.Lys674Asn)
c.1956A>C (p.Lys652Asn)
c.1836A>C (p.Lys612Asn)
c.1743A>C (p.Lys581Asn)
c.1479A>C (p.Lys493Asn)
c.1923A>C (p.Lys641Asn)
c.1848A>C (p.Lys616Asn)
 COSMIC COSMIC
1g.92607666T>ACA341152142EVI5c.1874A>T (p.Lys625Ile)
c.1865A>T (p.Lys622Ile)
c.*1722A>T (n.*1722A>T)
c.1889A>T (p.Lys630Ile)
c.1970A>T (p.Lys657Ile)
n.310-3867A>T
c.677A>T (p.Lys226Ile)
c.1754A>T (p.Lys585Ile)
c.1841A>T (p.Lys614Ile)
n.604A>T
n.694A>T
n.362A>T
c.2093A>T (p.Lys698Ile)
c.1946A>T (p.Lys649Ile)
c.2032-2264A>T (n.2032-2264A>T)
c.1934A>T (p.Lys645Ile)
c.1913A>T (p.Lys638Ile)
c.2102A>T (p.Lys701Ile)
c.2021A>T (p.Lys674Ile)
c.1955A>T (p.Lys652Ile)
c.1835A>T (p.Lys612Ile)
c.1742A>T (p.Lys581Ile)
c.1478A>T (p.Lys493Ile)
c.1922A>T (p.Lys641Ile)
c.1847A>T (p.Lys616Ile)
1g.92607666T>CCA341152144EVI5c.1874A>G (p.Lys625Arg)
c.1865A>G (p.Lys622Arg)
c.*1722A>G (n.*1722A>G)
c.1889A>G (p.Lys630Arg)
c.1970A>G (p.Lys657Arg)
n.310-3867A>G
c.677A>G (p.Lys226Arg)
c.1754A>G (p.Lys585Arg)
c.1841A>G (p.Lys614Arg)
n.604A>G
n.694A>G
n.362A>G
c.2093A>G (p.Lys698Arg)
c.1946A>G (p.Lys649Arg)
c.2032-2264A>G (n.2032-2264A>G)
c.1934A>G (p.Lys645Arg)
c.1913A>G (p.Lys638Arg)
c.2102A>G (p.Lys701Arg)
c.2021A>G (p.Lys674Arg)
c.1955A>G (p.Lys652Arg)
c.1835A>G (p.Lys612Arg)
c.1742A>G (p.Lys581Arg)
c.1478A>G (p.Lys493Arg)
c.1922A>G (p.Lys641Arg)
c.1847A>G (p.Lys616Arg)
1g.92607666T>GCA341152146EVI5c.1874A>C (p.Lys625Thr)
c.1865A>C (p.Lys622Thr)
c.*1722A>C (n.*1722A>C)
c.1889A>C (p.Lys630Thr)
c.1970A>C (p.Lys657Thr)
n.310-3867A>C
c.677A>C (p.Lys226Thr)
c.1754A>C (p.Lys585Thr)
c.1841A>C (p.Lys614Thr)
n.604A>C
n.694A>C
n.362A>C
c.2093A>C (p.Lys698Thr)
c.1946A>C (p.Lys649Thr)
c.2032-2264A>C (n.2032-2264A>C)
c.1934A>C (p.Lys645Thr)
c.1913A>C (p.Lys638Thr)
c.2102A>C (p.Lys701Thr)
c.2021A>C (p.Lys674Thr)
c.1955A>C (p.Lys652Thr)
c.1835A>C (p.Lys612Thr)
c.1742A>C (p.Lys581Thr)
c.1478A>C (p.Lys493Thr)
c.1922A>C (p.Lys641Thr)
c.1847A>C (p.Lys616Thr)
1g.92607667T>ACA341152148EVI5c.1873A>T (p.Lys625Ter)
c.1864A>T (p.Lys622Ter)
c.*1721A>T (n.*1721A>T)
c.1888A>T (p.Lys630Ter)
c.1969A>T (p.Lys657Ter)
n.310-3868A>T
c.676A>T (p.Lys226Ter)
c.1753A>T (p.Lys585Ter)
c.1840A>T (p.Lys614Ter)
n.603A>T
n.693A>T
n.361A>T
c.2092A>T (p.Lys698Ter)
c.1945A>T (p.Lys649Ter)
c.2032-2265A>T (n.2032-2265A>T)
c.1933A>T (p.Lys645Ter)
c.1912A>T (p.Lys638Ter)
c.2101A>T (p.Lys701Ter)
c.2020A>T (p.Lys674Ter)
c.1954A>T (p.Lys652Ter)
c.1834A>T (p.Lys612Ter)
c.1741A>T (p.Lys581Ter)
c.1477A>T (p.Lys493Ter)
c.1921A>T (p.Lys641Ter)
c.1846A>T (p.Lys616Ter)
1g.92607667T>CCA341152150EVI5c.1873A>G (p.Lys625Glu)
c.1864A>G (p.Lys622Glu)
c.*1721A>G (n.*1721A>G)
c.1888A>G (p.Lys630Glu)
c.1969A>G (p.Lys657Glu)
n.310-3868A>G
c.676A>G (p.Lys226Glu)
c.1753A>G (p.Lys585Glu)
c.1840A>G (p.Lys614Glu)
n.603A>G
n.693A>G
n.361A>G
c.2092A>G (p.Lys698Glu)
c.1945A>G (p.Lys649Glu)
c.2032-2265A>G (n.2032-2265A>G)
c.1933A>G (p.Lys645Glu)
c.1912A>G (p.Lys638Glu)
c.2101A>G (p.Lys701Glu)
c.2020A>G (p.Lys674Glu)
c.1954A>G (p.Lys652Glu)
c.1834A>G (p.Lys612Glu)
c.1741A>G (p.Lys581Glu)
c.1477A>G (p.Lys493Glu)
c.1921A>G (p.Lys641Glu)
c.1846A>G (p.Lys616Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.92607667T>GCA341152151EVI5c.1873A>C (p.Lys625Gln)
c.1864A>C (p.Lys622Gln)
c.*1721A>C (n.*1721A>C)
c.1888A>C (p.Lys630Gln)
c.1969A>C (p.Lys657Gln)
n.310-3868A>C
c.676A>C (p.Lys226Gln)
c.1753A>C (p.Lys585Gln)
c.1840A>C (p.Lys614Gln)
n.603A>C
n.693A>C
n.361A>C
c.2092A>C (p.Lys698Gln)
c.1945A>C (p.Lys649Gln)
c.2032-2265A>C (n.2032-2265A>C)
c.1933A>C (p.Lys645Gln)
c.1912A>C (p.Lys638Gln)
c.2101A>C (p.Lys701Gln)
c.2020A>C (p.Lys674Gln)
c.1954A>C (p.Lys652Gln)
c.1834A>C (p.Lys612Gln)
c.1741A>C (p.Lys581Gln)
c.1477A>C (p.Lys493Gln)
c.1921A>C (p.Lys641Gln)
c.1846A>C (p.Lys616Gln)
1g.92607667T=CA1180836790EVI5c.1873A= (p.Lys625=)
c.1864A= (p.Lys622=)
c.*1721A= (n.*1721A=)
c.1888A= (p.Lys630=)
c.1969A= (p.Lys657=)
n.310-3868A=
c.676A= (p.Lys226=)
c.1753A= (p.Lys585=)
c.1840A= (p.Lys614=)
n.603A=
n.693A=
n.361A=
c.2092A= (p.Lys698=)
c.1945A= (p.Lys649=)
c.2032-2265A= (n.2032-2265A=)
c.1933A= (p.Lys645=)
c.1912A= (p.Lys638=)
c.2101A= (p.Lys701=)
c.2020A= (p.Lys674=)
c.1954A= (p.Lys652=)
c.1834A= (p.Lys612=)
c.1741A= (p.Lys581=)
c.1477A= (p.Lys493=)
c.1921A= (p.Lys641=)
c.1846A= (p.Lys616=)
1g.92607668C>ACA951690EVI5c.1872G>T (p.Glu624Asp)
c.1863G>T (p.Glu621Asp)
c.*1720G>T (n.*1720G>T)
c.1887G>T (p.Glu629Asp)
c.1968G>T (p.Glu656Asp)
n.310-3869G>T
c.675G>T (p.Glu225Asp)
c.1752G>T (p.Glu584Asp)
c.1839G>T (p.Glu613Asp)
n.602G>T
n.692G>T
n.360G>T
c.2091G>T (p.Glu697Asp)
c.1944G>T (p.Glu648Asp)
c.2032-2266G>T (n.2032-2266G>T)
c.1932G>T (p.Glu644Asp)
c.1911G>T (p.Glu637Asp)
c.2100G>T (p.Glu700Asp)
c.2019G>T (p.Glu673Asp)
c.1953G>T (p.Glu651Asp)
c.1833G>T (p.Glu611Asp)
c.1740G>T (p.Glu580Asp)
c.1476G>T (p.Glu492Asp)
c.1920G>T (p.Glu640Asp)
c.1845G>T (p.Glu615Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.92607668C=CA1180836794EVI5c.1872G= (p.Glu624=)
c.1863G= (p.Glu621=)
c.*1720G= (n.*1720G=)
c.1887G= (p.Glu629=)
c.1968G= (p.Glu656=)
n.310-3869G=
c.675G= (p.Glu225=)
c.1752G= (p.Glu584=)
c.1839G= (p.Glu613=)
n.602G=
n.692G=
n.360G=
c.2091G= (p.Glu697=)
c.1944G= (p.Glu648=)
c.2032-2266G= (n.2032-2266G=)
c.1932G= (p.Glu644=)
c.1911G= (p.Glu637=)
c.2100G= (p.Glu700=)
c.2019G= (p.Glu673=)
c.1953G= (p.Glu651=)
c.1833G= (p.Glu611=)
c.1740G= (p.Glu580=)
c.1476G= (p.Glu492=)
c.1920G= (p.Glu640=)
c.1845G= (p.Glu615=)
1g.92607668C>GCA341152153EVI5c.1872G>C (p.Glu624Asp)
c.1863G>C (p.Glu621Asp)
c.*1720G>C (n.*1720G>C)
c.1887G>C (p.Glu629Asp)
c.1968G>C (p.Glu656Asp)
n.310-3869G>C
c.675G>C (p.Glu225Asp)
c.1752G>C (p.Glu584Asp)
c.1839G>C (p.Glu613Asp)
n.602G>C
n.692G>C
n.360G>C
c.2091G>C (p.Glu697Asp)
c.1944G>C (p.Glu648Asp)
c.2032-2266G>C (n.2032-2266G>C)
c.1932G>C (p.Glu644Asp)
c.1911G>C (p.Glu637Asp)
c.2100G>C (p.Glu700Asp)
c.2019G>C (p.Glu673Asp)
c.1953G>C (p.Glu651Asp)
c.1833G>C (p.Glu611Asp)
c.1740G>C (p.Glu580Asp)
c.1476G>C (p.Glu492Asp)
c.1920G>C (p.Glu640Asp)
c.1845G>C (p.Glu615Asp)
1g.92607668C>TCA418958954EVI5c.1872G>A (p.Glu624=)
c.1863G>A (p.Glu621=)
c.*1720G>A (n.*1720G>A)
c.1887G>A (p.Glu629=)
c.1968G>A (p.Glu656=)
n.310-3869G>A
c.675G>A (p.Glu225=)
c.1752G>A (p.Glu584=)
c.1839G>A (p.Glu613=)
n.602G>A
n.692G>A
n.360G>A
c.2091G>A (p.Glu697=)
c.1944G>A (p.Glu648=)
c.2032-2266G>A (n.2032-2266G>A)
c.1932G>A (p.Glu644=)
c.1911G>A (p.Glu637=)
c.2100G>A (p.Glu700=)
c.2019G>A (p.Glu673=)
c.1953G>A (p.Glu651=)
c.1833G>A (p.Glu611=)
c.1740G>A (p.Glu580=)
c.1476G>A (p.Glu492=)
c.1920G>A (p.Glu640=)
c.1845G>A (p.Glu615=)
 gnomAD v4
1g.92607669T>ACA341152159EVI5c.1871A>T (p.Glu624Val)
c.1862A>T (p.Glu621Val)
c.*1719A>T (n.*1719A>T)
c.1886A>T (p.Glu629Val)
c.1967A>T (p.Glu656Val)
n.310-3870A>T
c.674A>T (p.Glu225Val)
c.1751A>T (p.Glu584Val)
c.1838A>T (p.Glu613Val)
n.601A>T
n.691A>T
n.359A>T
c.2090A>T (p.Glu697Val)
c.1943A>T (p.Glu648Val)
c.2032-2267A>T (n.2032-2267A>T)
c.1931A>T (p.Glu644Val)
c.1910A>T (p.Glu637Val)
c.2099A>T (p.Glu700Val)
c.2018A>T (p.Glu673Val)
c.1952A>T (p.Glu651Val)
c.1832A>T (p.Glu611Val)
c.1739A>T (p.Glu580Val)
c.1475A>T (p.Glu492Val)
c.1919A>T (p.Glu640Val)
c.1844A>T (p.Glu615Val)
1g.92607669T>CCA341152157EVI5c.1871A>G (p.Glu624Gly)
c.1862A>G (p.Glu621Gly)
c.*1719A>G (n.*1719A>G)
c.1886A>G (p.Glu629Gly)
c.1967A>G (p.Glu656Gly)
n.310-3870A>G
c.674A>G (p.Glu225Gly)
c.1751A>G (p.Glu584Gly)
c.1838A>G (p.Glu613Gly)
n.601A>G
n.691A>G
n.359A>G
c.2090A>G (p.Glu697Gly)
c.1943A>G (p.Glu648Gly)
c.2032-2267A>G (n.2032-2267A>G)
c.1931A>G (p.Glu644Gly)
c.1910A>G (p.Glu637Gly)
c.2099A>G (p.Glu700Gly)
c.2018A>G (p.Glu673Gly)
c.1952A>G (p.Glu651Gly)
c.1832A>G (p.Glu611Gly)
c.1739A>G (p.Glu580Gly)
c.1475A>G (p.Glu492Gly)
c.1919A>G (p.Glu640Gly)
c.1844A>G (p.Glu615Gly)
 gnomAD v4
1g.92607669T>GCA341152155EVI5c.1871A>C (p.Glu624Ala)
c.1862A>C (p.Glu621Ala)
c.*1719A>C (n.*1719A>C)
c.1886A>C (p.Glu629Ala)
c.1967A>C (p.Glu656Ala)
n.310-3870A>C
c.674A>C (p.Glu225Ala)
c.1751A>C (p.Glu584Ala)
c.1838A>C (p.Glu613Ala)
n.601A>C
n.691A>C
n.359A>C
c.2090A>C (p.Glu697Ala)
c.1943A>C (p.Glu648Ala)
c.2032-2267A>C (n.2032-2267A>C)
c.1931A>C (p.Glu644Ala)
c.1910A>C (p.Glu637Ala)
c.2099A>C (p.Glu700Ala)
c.2018A>C (p.Glu673Ala)
c.1952A>C (p.Glu651Ala)
c.1832A>C (p.Glu611Ala)
c.1739A>C (p.Glu580Ala)
c.1475A>C (p.Glu492Ala)
c.1919A>C (p.Glu640Ala)
c.1844A>C (p.Glu615Ala)
1g.92607670C>ACA341152161EVI5c.1870G>T (p.Glu624Ter)
c.1861G>T (p.Glu621Ter)
c.*1718G>T (n.*1718G>T)
c.1885G>T (p.Glu629Ter)
c.1966G>T (p.Glu656Ter)
n.310-3871G>T
c.673G>T (p.Glu225Ter)
c.1750G>T (p.Glu584Ter)
c.1837G>T (p.Glu613Ter)
n.600G>T
n.690G>T
n.358G>T
c.2089G>T (p.Glu697Ter)
c.1942G>T (p.Glu648Ter)
c.2032-2268G>T (n.2032-2268G>T)
c.1930G>T (p.Glu644Ter)
c.1909G>T (p.Glu637Ter)
c.2098G>T (p.Glu700Ter)
c.2017G>T (p.Glu673Ter)
c.1951G>T (p.Glu651Ter)
c.1831G>T (p.Glu611Ter)
c.1738G>T (p.Glu580Ter)
c.1474G>T (p.Glu492Ter)
c.1918G>T (p.Glu640Ter)
c.1843G>T (p.Glu615Ter)
1g.92607670C>GCA341152165EVI5c.1870G>C (p.Glu624Gln)
c.1861G>C (p.Glu621Gln)
c.*1718G>C (n.*1718G>C)
c.1885G>C (p.Glu629Gln)
c.1966G>C (p.Glu656Gln)
n.310-3871G>C
c.673G>C (p.Glu225Gln)
c.1750G>C (p.Glu584Gln)
c.1837G>C (p.Glu613Gln)
n.600G>C
n.690G>C
n.358G>C
c.2089G>C (p.Glu697Gln)
c.1942G>C (p.Glu648Gln)
c.2032-2268G>C (n.2032-2268G>C)
c.1930G>C (p.Glu644Gln)
c.1909G>C (p.Glu637Gln)
c.2098G>C (p.Glu700Gln)
c.2017G>C (p.Glu673Gln)
c.1951G>C (p.Glu651Gln)
c.1831G>C (p.Glu611Gln)
c.1738G>C (p.Glu580Gln)
c.1474G>C (p.Glu492Gln)
c.1918G>C (p.Glu640Gln)
c.1843G>C (p.Glu615Gln)
1g.92607670C>TCA341152163EVI5c.1870G>A (p.Glu624Lys)
c.1861G>A (p.Glu621Lys)
c.*1718G>A (n.*1718G>A)
c.1885G>A (p.Glu629Lys)
c.1966G>A (p.Glu656Lys)
n.310-3871G>A
c.673G>A (p.Glu225Lys)
c.1750G>A (p.Glu584Lys)
c.1837G>A (p.Glu613Lys)
n.600G>A
n.690G>A
n.358G>A
c.2089G>A (p.Glu697Lys)
c.1942G>A (p.Glu648Lys)
c.2032-2268G>A (n.2032-2268G>A)
c.1930G>A (p.Glu644Lys)
c.1909G>A (p.Glu637Lys)
c.2098G>A (p.Glu700Lys)
c.2017G>A (p.Glu673Lys)
c.1951G>A (p.Glu651Lys)
c.1831G>A (p.Glu611Lys)
c.1738G>A (p.Glu580Lys)
c.1474G>A (p.Glu492Lys)
c.1918G>A (p.Glu640Lys)
c.1843G>A (p.Glu615Lys)
1g.92607671C>ACA951691EVI5c.1869G>T (p.Gln623His)
c.1860G>T (p.Gln620His)
c.*1717G>T (n.*1717G>T)
c.1884G>T (p.Gln628His)
c.1965G>T (p.Gln655His)
n.310-3872G>T
c.672G>T (p.Gln224His)
c.1749G>T (p.Gln583His)
c.1836G>T (p.Gln612His)
n.599G>T
n.689G>T
n.357G>T
c.2088G>T (p.Gln696His)
c.1941G>T (p.Gln647His)
c.2032-2269G>T (n.2032-2269G>T)
c.1929G>T (p.Gln643His)
c.1908G>T (p.Gln636His)
c.2097G>T (p.Gln699His)
c.2016G>T (p.Gln672His)
c.1950G>T (p.Gln650His)
c.1830G>T (p.Gln610His)
c.1737G>T (p.Gln579His)
c.1473G>T (p.Gln491His)
c.1917G>T (p.Gln639His)
c.1842G>T (p.Gln614His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.92607671C=CA1140289119EVI5c.1869G= (p.Gln623=)
c.1860G= (p.Gln620=)
c.*1717G= (n.*1717G=)
c.1884G= (p.Gln628=)
c.1965G= (p.Gln655=)
n.310-3872G=
c.672G= (p.Gln224=)
c.1749G= (p.Gln583=)
c.1836G= (p.Gln612=)
n.599G=
n.689G=
n.357G=
c.2088G= (p.Gln696=)
c.1941G= (p.Gln647=)
c.2032-2269G= (n.2032-2269G=)
c.1929G= (p.Gln643=)
c.1908G= (p.Gln636=)
c.2097G= (p.Gln699=)
c.2016G= (p.Gln672=)
c.1950G= (p.Gln650=)
c.1830G= (p.Gln610=)
c.1737G= (p.Gln579=)
c.1473G= (p.Gln491=)
c.1917G= (p.Gln639=)
c.1842G= (p.Gln614=)
1g.92607671C>GCA341152167EVI5c.1869G>C (p.Gln623His)
c.1860G>C (p.Gln620His)
c.*1717G>C (n.*1717G>C)
c.1884G>C (p.Gln628His)
c.1965G>C (p.Gln655His)
n.310-3872G>C
c.672G>C (p.Gln224His)
c.1749G>C (p.Gln583His)
c.1836G>C (p.Gln612His)
n.599G>C
n.689G>C
n.357G>C
c.2088G>C (p.Gln696His)
c.1941G>C (p.Gln647His)
c.2032-2269G>C (n.2032-2269G>C)
c.1929G>C (p.Gln643His)
c.1908G>C (p.Gln636His)
c.2097G>C (p.Gln699His)
c.2016G>C (p.Gln672His)
c.1950G>C (p.Gln650His)
c.1830G>C (p.Gln610His)
c.1737G>C (p.Gln579His)
c.1473G>C (p.Gln491His)
c.1917G>C (p.Gln639His)
c.1842G>C (p.Gln614His)
1g.92607671C>TCA418958968EVI5c.1869G>A (p.Gln623=)
c.1860G>A (p.Gln620=)
c.*1717G>A (n.*1717G>A)
c.1884G>A (p.Gln628=)
c.1965G>A (p.Gln655=)
n.310-3872G>A
c.672G>A (p.Gln224=)
c.1749G>A (p.Gln583=)
c.1836G>A (p.Gln612=)
n.599G>A
n.689G>A
n.357G>A
c.2088G>A (p.Gln696=)
c.1941G>A (p.Gln647=)
c.2032-2269G>A (n.2032-2269G>A)
c.1929G>A (p.Gln643=)
c.1908G>A (p.Gln636=)
c.2097G>A (p.Gln699=)
c.2016G>A (p.Gln672=)
c.1950G>A (p.Gln650=)
c.1830G>A (p.Gln610=)
c.1737G>A (p.Gln579=)
c.1473G>A (p.Gln491=)
c.1917G>A (p.Gln639=)
c.1842G>A (p.Gln614=)

Number of alleles fetched