Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.70777101A>CCA367669701AUTS2c.1933-2A>C (n.1933-2A>C)
c.31-2A>C (n.31-2A>C)
c.268-2A>C (n.268-2A>C)
c.26-2A>C
n.601-2A>C
c.514-2A>C (n.514-2A>C)
c.559-2A>C (n.559-2A>C)
c.1930-2A>C (n.1930-2A>C)
c.264-2A>C
n.244-2A>C
c.798-2A>C
c.1861-2A>C (n.1861-2A>C)
c.31-2A>C
c.513-2A>C
n.599-2A>C
n.428A>C
n.301-2A>C
c.1189-2A>C (n.1189-2A>C)
c.1117-2A>C (n.1117-2A>C)
c.580-2A>C (n.580-2A>C)
c.1954-2A>C (n.1954-2A>C)
c.1951-2A>C (n.1951-2A>C)
c.1888-2A>C (n.1888-2A>C)
c.1882-2A>C (n.1882-2A>C)
c.1852-2A>C (n.1852-2A>C)
c.1690-2A>C (n.1690-2A>C)
c.1663-2A>C (n.1663-2A>C)
c.1480-2A>C (n.1480-2A>C)
c.1453-2A>C (n.1453-2A>C)
7g.70777101A>GCA367669703AUTS2c.1933-2A>G (n.1933-2A>G)
c.31-2A>G (n.31-2A>G)
c.268-2A>G (n.268-2A>G)
c.26-2A>G
n.601-2A>G
c.514-2A>G (n.514-2A>G)
c.559-2A>G (n.559-2A>G)
c.1930-2A>G (n.1930-2A>G)
c.264-2A>G
n.244-2A>G
c.798-2A>G
c.1861-2A>G (n.1861-2A>G)
c.31-2A>G
c.513-2A>G
n.599-2A>G
n.428A>G
n.301-2A>G
c.1189-2A>G (n.1189-2A>G)
c.1117-2A>G (n.1117-2A>G)
c.580-2A>G (n.580-2A>G)
c.1954-2A>G (n.1954-2A>G)
c.1951-2A>G (n.1951-2A>G)
c.1888-2A>G (n.1888-2A>G)
c.1882-2A>G (n.1882-2A>G)
c.1852-2A>G (n.1852-2A>G)
c.1690-2A>G (n.1690-2A>G)
c.1663-2A>G (n.1663-2A>G)
c.1480-2A>G (n.1480-2A>G)
c.1453-2A>G (n.1453-2A>G)
7g.70777101A>TCA367669702AUTS2c.1933-2A>T (n.1933-2A>T)
c.31-2A>T (n.31-2A>T)
c.268-2A>T (n.268-2A>T)
c.26-2A>T
n.601-2A>T
c.514-2A>T (n.514-2A>T)
c.559-2A>T (n.559-2A>T)
c.1930-2A>T (n.1930-2A>T)
c.264-2A>T
n.244-2A>T
c.798-2A>T
c.1861-2A>T (n.1861-2A>T)
c.31-2A>T
c.513-2A>T
n.599-2A>T
n.428A>T
n.301-2A>T
c.1189-2A>T (n.1189-2A>T)
c.1117-2A>T (n.1117-2A>T)
c.580-2A>T (n.580-2A>T)
c.1954-2A>T (n.1954-2A>T)
c.1951-2A>T (n.1951-2A>T)
c.1888-2A>T (n.1888-2A>T)
c.1882-2A>T (n.1882-2A>T)
c.1852-2A>T (n.1852-2A>T)
c.1690-2A>T (n.1690-2A>T)
c.1663-2A>T (n.1663-2A>T)
c.1480-2A>T (n.1480-2A>T)
c.1453-2A>T (n.1453-2A>T)
7g.70777102G>ACA367669704AUTS2c.1933-1G>A (n.1933-1G>A)
c.31-1G>A (n.31-1G>A)
c.268-1G>A (n.268-1G>A)
c.26-1G>A
n.601-1G>A
c.514-1G>A (n.514-1G>A)
c.559-1G>A (n.559-1G>A)
c.1930-1G>A (n.1930-1G>A)
c.264-1G>A
n.244-1G>A
c.798-1G>A
c.1861-1G>A (n.1861-1G>A)
c.31-1G>A
c.513-1G>A
n.599-1G>A
n.429G>A
n.301-1G>A
c.1189-1G>A (n.1189-1G>A)
c.1117-1G>A (n.1117-1G>A)
c.580-1G>A (n.580-1G>A)
c.1954-1G>A (n.1954-1G>A)
c.1951-1G>A (n.1951-1G>A)
c.1888-1G>A (n.1888-1G>A)
c.1882-1G>A (n.1882-1G>A)
c.1852-1G>A (n.1852-1G>A)
c.1690-1G>A (n.1690-1G>A)
c.1663-1G>A (n.1663-1G>A)
c.1480-1G>A (n.1480-1G>A)
c.1453-1G>A (n.1453-1G>A)
7g.70777102G>CCA367669706AUTS2c.1933-1G>C (n.1933-1G>C)
c.31-1G>C (n.31-1G>C)
c.268-1G>C (n.268-1G>C)
c.26-1G>C
n.601-1G>C
c.514-1G>C (n.514-1G>C)
c.559-1G>C (n.559-1G>C)
c.1930-1G>C (n.1930-1G>C)
c.264-1G>C
n.244-1G>C
c.798-1G>C
c.1861-1G>C (n.1861-1G>C)
c.31-1G>C
c.513-1G>C
n.599-1G>C
n.429G>C
n.301-1G>C
c.1189-1G>C (n.1189-1G>C)
c.1117-1G>C (n.1117-1G>C)
c.580-1G>C (n.580-1G>C)
c.1954-1G>C (n.1954-1G>C)
c.1951-1G>C (n.1951-1G>C)
c.1888-1G>C (n.1888-1G>C)
c.1882-1G>C (n.1882-1G>C)
c.1852-1G>C (n.1852-1G>C)
c.1690-1G>C (n.1690-1G>C)
c.1663-1G>C (n.1663-1G>C)
c.1480-1G>C (n.1480-1G>C)
c.1453-1G>C (n.1453-1G>C)
7g.70777102G>TCA367669705AUTS2c.1933-1G>T (n.1933-1G>T)
c.31-1G>T (n.31-1G>T)
c.268-1G>T (n.268-1G>T)
c.26-1G>T
n.601-1G>T
c.514-1G>T (n.514-1G>T)
c.559-1G>T (n.559-1G>T)
c.1930-1G>T (n.1930-1G>T)
c.264-1G>T
n.244-1G>T
c.798-1G>T
c.1861-1G>T (n.1861-1G>T)
c.31-1G>T
c.513-1G>T
n.599-1G>T
n.429G>T
n.301-1G>T
c.1189-1G>T (n.1189-1G>T)
c.1117-1G>T (n.1117-1G>T)
c.580-1G>T (n.580-1G>T)
c.1954-1G>T (n.1954-1G>T)
c.1951-1G>T (n.1951-1G>T)
c.1888-1G>T (n.1888-1G>T)
c.1882-1G>T (n.1882-1G>T)
c.1852-1G>T (n.1852-1G>T)
c.1690-1G>T (n.1690-1G>T)
c.1663-1G>T (n.1663-1G>T)
c.1480-1G>T (n.1480-1G>T)
c.1453-1G>T (n.1453-1G>T)
7g.70777103A>CCA367669707AUTS2c.1A>C (p.Lys1Gln)
c.1933A>C (p.Lys645Gln)
c.31A>C (p.Lys11Gln)
c.268A>C (p.Lys90Gln)
c.26A>C
n.601A>C
c.514A>C (p.Lys172Gln)
c.559A>C (p.Lys187Gln)
c.1930A>C (p.Lys644Gln)
c.264A>C
n.244A>C
c.798A>C
c.1861A>C (p.Lys621Gln)
c.31A>C
c.513A>C
n.599A>C
n.430A>C
n.301A>C
c.1189A>C (p.Lys397Gln)
c.1117A>C (p.Lys373Gln)
c.580A>C (p.Lys194Gln)
c.1954A>C (p.Lys652Gln)
c.1951A>C (p.Lys651Gln)
c.1888A>C (p.Lys630Gln)
c.1882A>C (p.Lys628Gln)
c.1852A>C (p.Lys618Gln)
c.1690A>C (p.Lys564Gln)
c.1663A>C (p.Lys555Gln)
c.1480A>C (p.Lys494Gln)
c.1453A>C (p.Lys485Gln)
7g.70777103A>GCA367669709AUTS2c.1A>G (p.Lys1Glu)
c.1933A>G (p.Lys645Glu)
c.31A>G (p.Lys11Glu)
c.268A>G (p.Lys90Glu)
c.26A>G
n.601A>G
c.514A>G (p.Lys172Glu)
c.559A>G (p.Lys187Glu)
c.1930A>G (p.Lys644Glu)
c.264A>G
n.244A>G
c.798A>G
c.1861A>G (p.Lys621Glu)
c.31A>G
c.513A>G
n.599A>G
n.430A>G
n.301A>G
c.1189A>G (p.Lys397Glu)
c.1117A>G (p.Lys373Glu)
c.580A>G (p.Lys194Glu)
c.1954A>G (p.Lys652Glu)
c.1951A>G (p.Lys651Glu)
c.1888A>G (p.Lys630Glu)
c.1882A>G (p.Lys628Glu)
c.1852A>G (p.Lys618Glu)
c.1690A>G (p.Lys564Glu)
c.1663A>G (p.Lys555Glu)
c.1480A>G (p.Lys494Glu)
c.1453A>G (p.Lys485Glu)
7g.70777103A>TCA367669708AUTS2c.1A>T (p.Lys1Ter)
c.1933A>T (p.Lys645Ter)
c.31A>T (p.Lys11Ter)
c.268A>T (p.Lys90Ter)
c.26A>T
n.601A>T
c.514A>T (p.Lys172Ter)
c.559A>T (p.Lys187Ter)
c.1930A>T (p.Lys644Ter)
c.264A>T
n.244A>T
c.798A>T
c.1861A>T (p.Lys621Ter)
c.31A>T
c.513A>T
n.599A>T
n.430A>T
n.301A>T
c.1189A>T (p.Lys397Ter)
c.1117A>T (p.Lys373Ter)
c.580A>T (p.Lys194Ter)
c.1954A>T (p.Lys652Ter)
c.1951A>T (p.Lys651Ter)
c.1888A>T (p.Lys630Ter)
c.1882A>T (p.Lys628Ter)
c.1852A>T (p.Lys618Ter)
c.1690A>T (p.Lys564Ter)
c.1663A>T (p.Lys555Ter)
c.1480A>T (p.Lys494Ter)
c.1453A>T (p.Lys485Ter)
7g.70777104A>CCA367669710AUTS2c.2A>C (p.Lys1Thr)
c.1934A>C (p.Lys645Thr)
c.32A>C (p.Lys11Thr)
c.269A>C (p.Lys90Thr)
c.27A>C
n.602A>C
c.515A>C (p.Lys172Thr)
c.560A>C (p.Lys187Thr)
c.1931A>C (p.Lys644Thr)
c.265A>C
n.245A>C
c.799A>C
c.1862A>C (p.Lys621Thr)
c.32A>C
c.514A>C
n.600A>C
n.431A>C
n.302A>C
c.1190A>C (p.Lys397Thr)
c.1118A>C (p.Lys373Thr)
c.581A>C (p.Lys194Thr)
c.1955A>C (p.Lys652Thr)
c.1952A>C (p.Lys651Thr)
c.1889A>C (p.Lys630Thr)
c.1883A>C (p.Lys628Thr)
c.1853A>C (p.Lys618Thr)
c.1691A>C (p.Lys564Thr)
c.1664A>C (p.Lys555Thr)
c.1481A>C (p.Lys494Thr)
c.1454A>C (p.Lys485Thr)
7g.70777104A>GCA367669712AUTS2c.2A>G (p.Lys1Arg)
c.1934A>G (p.Lys645Arg)
c.32A>G (p.Lys11Arg)
c.269A>G (p.Lys90Arg)
c.27A>G
n.602A>G
c.515A>G (p.Lys172Arg)
c.560A>G (p.Lys187Arg)
c.1931A>G (p.Lys644Arg)
c.265A>G
n.245A>G
c.799A>G
c.1862A>G (p.Lys621Arg)
c.32A>G
c.514A>G
n.600A>G
n.431A>G
n.302A>G
c.1190A>G (p.Lys397Arg)
c.1118A>G (p.Lys373Arg)
c.581A>G (p.Lys194Arg)
c.1955A>G (p.Lys652Arg)
c.1952A>G (p.Lys651Arg)
c.1889A>G (p.Lys630Arg)
c.1883A>G (p.Lys628Arg)
c.1853A>G (p.Lys618Arg)
c.1691A>G (p.Lys564Arg)
c.1664A>G (p.Lys555Arg)
c.1481A>G (p.Lys494Arg)
c.1454A>G (p.Lys485Arg)
7g.70777104A>TCA367669711AUTS2c.2A>T (p.Lys1Ile)
c.1934A>T (p.Lys645Ile)
c.32A>T (p.Lys11Ile)
c.269A>T (p.Lys90Ile)
c.27A>T
n.602A>T
c.515A>T (p.Lys172Ile)
c.560A>T (p.Lys187Ile)
c.1931A>T (p.Lys644Ile)
c.265A>T
n.245A>T
c.799A>T
c.1862A>T (p.Lys621Ile)
c.32A>T
c.514A>T
n.600A>T
n.431A>T
n.302A>T
c.1190A>T (p.Lys397Ile)
c.1118A>T (p.Lys373Ile)
c.581A>T (p.Lys194Ile)
c.1955A>T (p.Lys652Ile)
c.1952A>T (p.Lys651Ile)
c.1889A>T (p.Lys630Ile)
c.1883A>T (p.Lys628Ile)
c.1853A>T (p.Lys618Ile)
c.1691A>T (p.Lys564Ile)
c.1664A>T (p.Lys555Ile)
c.1481A>T (p.Lys494Ile)
c.1454A>T (p.Lys485Ile)
7g.70777105A=CA1716145402AUTS2c.3A= (p.Lys1=)
c.1935A= (p.Lys645=)
c.33A= (p.Lys11=)
c.270A= (p.Lys90=)
c.28A=
n.603A=
c.516A= (p.Lys172=)
c.561A= (p.Lys187=)
c.1932A= (p.Lys644=)
c.266A=
n.246A=
c.800A=
c.1863A= (p.Lys621=)
c.33A=
c.515A=
n.601A=
n.432A=
n.303A=
c.1191A= (p.Lys397=)
c.1119A= (p.Lys373=)
c.582A= (p.Lys194=)
c.1956A= (p.Lys652=)
c.1953A= (p.Lys651=)
c.1890A= (p.Lys630=)
c.1884A= (p.Lys628=)
c.1854A= (p.Lys618=)
c.1692A= (p.Lys564=)
c.1665A= (p.Lys555=)
c.1482A= (p.Lys494=)
c.1455A= (p.Lys485=)
7g.70777105A>CCA367669713AUTS2c.3A>C (p.Lys1Asn)
c.1935A>C (p.Lys645Asn)
c.33A>C (p.Lys11Asn)
c.270A>C (p.Lys90Asn)
c.28A>C
n.603A>C
c.516A>C (p.Lys172Asn)
c.561A>C (p.Lys187Asn)
c.1932A>C (p.Lys644Asn)
c.266A>C
n.246A>C
c.800A>C
c.1863A>C (p.Lys621Asn)
c.33A>C
c.515A>C
n.601A>C
n.432A>C
n.303A>C
c.1191A>C (p.Lys397Asn)
c.1119A>C (p.Lys373Asn)
c.582A>C (p.Lys194Asn)
c.1956A>C (p.Lys652Asn)
c.1953A>C (p.Lys651Asn)
c.1890A>C (p.Lys630Asn)
c.1884A>C (p.Lys628Asn)
c.1854A>C (p.Lys618Asn)
c.1692A>C (p.Lys564Asn)
c.1665A>C (p.Lys555Asn)
c.1482A>C (p.Lys494Asn)
c.1455A>C (p.Lys485Asn)
7g.70777105A>GCA4280856AUTS2c.3A>G (p.Lys1=)
c.1935A>G (p.Lys645=)
c.33A>G (p.Lys11=)
c.270A>G (p.Lys90=)
c.28A>G
n.603A>G
c.516A>G (p.Lys172=)
c.561A>G (p.Lys187=)
c.1932A>G (p.Lys644=)
c.266A>G
n.246A>G
c.800A>G
c.1863A>G (p.Lys621=)
c.33A>G
c.515A>G
n.601A>G
n.432A>G
n.303A>G
c.1191A>G (p.Lys397=)
c.1119A>G (p.Lys373=)
c.582A>G (p.Lys194=)
c.1956A>G (p.Lys652=)
c.1953A>G (p.Lys651=)
c.1890A>G (p.Lys630=)
c.1884A>G (p.Lys628=)
c.1854A>G (p.Lys618=)
c.1692A>G (p.Lys564=)
c.1665A>G (p.Lys555=)
c.1482A>G (p.Lys494=)
c.1455A>G (p.Lys485=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.70777105A>TCA367669714AUTS2c.3A>T (p.Lys1Asn)
c.1935A>T (p.Lys645Asn)
c.33A>T (p.Lys11Asn)
c.270A>T (p.Lys90Asn)
c.28A>T
n.603A>T
c.516A>T (p.Lys172Asn)
c.561A>T (p.Lys187Asn)
c.1932A>T (p.Lys644Asn)
c.266A>T
n.246A>T
c.800A>T
c.1863A>T (p.Lys621Asn)
c.33A>T
c.515A>T
n.601A>T
n.432A>T
n.303A>T
c.1191A>T (p.Lys397Asn)
c.1119A>T (p.Lys373Asn)
c.582A>T (p.Lys194Asn)
c.1956A>T (p.Lys652Asn)
c.1953A>T (p.Lys651Asn)
c.1890A>T (p.Lys630Asn)
c.1884A>T (p.Lys628Asn)
c.1854A>T (p.Lys618Asn)
c.1692A>T (p.Lys564Asn)
c.1665A>T (p.Lys555Asn)
c.1482A>T (p.Lys494Asn)
c.1455A>T (p.Lys485Asn)
7g.70777106C>ACA367669715AUTS2c.4C>A (p.Pro2Thr)
c.1936C>A (p.Pro646Thr)
c.34C>A (p.Pro12Thr)
c.271C>A (p.Pro91Thr)
c.29C>A
n.604C>A
c.517C>A (p.Pro173Thr)
c.562C>A (p.Pro188Thr)
c.1933C>A (p.Pro645Thr)
c.267C>A
n.247C>A
c.801C>A
c.1864C>A (p.Pro622Thr)
c.34C>A
c.516C>A
n.602C>A
n.433C>A
n.304C>A
c.1192C>A (p.Pro398Thr)
c.1120C>A (p.Pro374Thr)
c.583C>A (p.Pro195Thr)
c.1957C>A (p.Pro653Thr)
c.1954C>A (p.Pro652Thr)
c.1891C>A (p.Pro631Thr)
c.1885C>A (p.Pro629Thr)
c.1855C>A (p.Pro619Thr)
c.1693C>A (p.Pro565Thr)
c.1666C>A (p.Pro556Thr)
c.1483C>A (p.Pro495Thr)
c.1456C>A (p.Pro486Thr)
7g.70777106C>GCA367669716AUTS2c.4C>G (p.Pro2Ala)
c.1936C>G (p.Pro646Ala)
c.34C>G (p.Pro12Ala)
c.271C>G (p.Pro91Ala)
c.29C>G
n.604C>G
c.517C>G (p.Pro173Ala)
c.562C>G (p.Pro188Ala)
c.1933C>G (p.Pro645Ala)
c.267C>G
n.247C>G
c.801C>G
c.1864C>G (p.Pro622Ala)
c.34C>G
c.516C>G
n.602C>G
n.433C>G
n.304C>G
c.1192C>G (p.Pro398Ala)
c.1120C>G (p.Pro374Ala)
c.583C>G (p.Pro195Ala)
c.1957C>G (p.Pro653Ala)
c.1954C>G (p.Pro652Ala)
c.1891C>G (p.Pro631Ala)
c.1885C>G (p.Pro629Ala)
c.1855C>G (p.Pro619Ala)
c.1693C>G (p.Pro565Ala)
c.1666C>G (p.Pro556Ala)
c.1483C>G (p.Pro495Ala)
c.1456C>G (p.Pro486Ala)
7g.70777106C>TCA367669717AUTS2c.4C>T (p.Pro2Ser)
c.1936C>T (p.Pro646Ser)
c.34C>T (p.Pro12Ser)
c.271C>T (p.Pro91Ser)
c.29C>T
n.604C>T
c.517C>T (p.Pro173Ser)
c.562C>T (p.Pro188Ser)
c.1933C>T (p.Pro645Ser)
c.267C>T
n.247C>T
c.801C>T
c.1864C>T (p.Pro622Ser)
c.34C>T
c.516C>T
n.602C>T
n.433C>T
n.304C>T
c.1192C>T (p.Pro398Ser)
c.1120C>T (p.Pro374Ser)
c.583C>T (p.Pro195Ser)
c.1957C>T (p.Pro653Ser)
c.1954C>T (p.Pro652Ser)
c.1891C>T (p.Pro631Ser)
c.1885C>T (p.Pro629Ser)
c.1855C>T (p.Pro619Ser)
c.1693C>T (p.Pro565Ser)
c.1666C>T (p.Pro556Ser)
c.1483C>T (p.Pro495Ser)
c.1456C>T (p.Pro486Ser)
 gnomAD v4
7g.70777107C>ACA367669720AUTS2c.5C>A (p.Pro2Gln)
c.1937C>A (p.Pro646Gln)
c.35C>A (p.Pro12Gln)
c.272C>A (p.Pro91Gln)
c.30C>A
n.605C>A
c.518C>A (p.Pro173Gln)
c.563C>A (p.Pro188Gln)
c.1934C>A (p.Pro645Gln)
c.268C>A
n.248C>A
c.802C>A
c.1865C>A (p.Pro622Gln)
c.35C>A
c.517C>A
n.603C>A
n.434C>A
n.305C>A
c.1193C>A (p.Pro398Gln)
c.1121C>A (p.Pro374Gln)
c.584C>A (p.Pro195Gln)
c.1958C>A (p.Pro653Gln)
c.1955C>A (p.Pro652Gln)
c.1892C>A (p.Pro631Gln)
c.1886C>A (p.Pro629Gln)
c.1856C>A (p.Pro619Gln)
c.1694C>A (p.Pro565Gln)
c.1667C>A (p.Pro556Gln)
c.1484C>A (p.Pro495Gln)
c.1457C>A (p.Pro486Gln)
7g.70777107C>GCA367669719AUTS2c.5C>G (p.Pro2Arg)
c.1937C>G (p.Pro646Arg)
c.35C>G (p.Pro12Arg)
c.272C>G (p.Pro91Arg)
c.30C>G
n.605C>G
c.518C>G (p.Pro173Arg)
c.563C>G (p.Pro188Arg)
c.1934C>G (p.Pro645Arg)
c.268C>G
n.248C>G
c.802C>G
c.1865C>G (p.Pro622Arg)
c.35C>G
c.517C>G
n.603C>G
n.434C>G
n.305C>G
c.1193C>G (p.Pro398Arg)
c.1121C>G (p.Pro374Arg)
c.584C>G (p.Pro195Arg)
c.1958C>G (p.Pro653Arg)
c.1955C>G (p.Pro652Arg)
c.1892C>G (p.Pro631Arg)
c.1886C>G (p.Pro629Arg)
c.1856C>G (p.Pro619Arg)
c.1694C>G (p.Pro565Arg)
c.1667C>G (p.Pro556Arg)
c.1484C>G (p.Pro495Arg)
c.1457C>G (p.Pro486Arg)
7g.70777107C>TCA367669718AUTS2c.5C>T (p.Pro2Leu)
c.1937C>T (p.Pro646Leu)
c.35C>T (p.Pro12Leu)
c.272C>T (p.Pro91Leu)
c.30C>T
n.605C>T
c.518C>T (p.Pro173Leu)
c.563C>T (p.Pro188Leu)
c.1934C>T (p.Pro645Leu)
c.268C>T
n.248C>T
c.802C>T
c.1865C>T (p.Pro622Leu)
c.35C>T
c.517C>T
n.603C>T
n.434C>T
n.305C>T
c.1193C>T (p.Pro398Leu)
c.1121C>T (p.Pro374Leu)
c.584C>T (p.Pro195Leu)
c.1958C>T (p.Pro653Leu)
c.1955C>T (p.Pro652Leu)
c.1892C>T (p.Pro631Leu)
c.1886C>T (p.Pro629Leu)
c.1856C>T (p.Pro619Leu)
c.1694C>T (p.Pro565Leu)
c.1667C>T (p.Pro556Leu)
c.1484C>T (p.Pro495Leu)
c.1457C>T (p.Pro486Leu)
7g.70777108A>CCA455803104AUTS2c.6A>C (p.Pro2=)
c.1938A>C (p.Pro646=)
c.36A>C (p.Pro12=)
c.273A>C (p.Pro91=)
c.31A>C
n.606A>C
c.519A>C (p.Pro173=)
c.564A>C (p.Pro188=)
c.1935A>C (p.Pro645=)
c.269A>C
n.249A>C
c.803A>C
c.1866A>C (p.Pro622=)
c.36A>C
c.518A>C
n.604A>C
n.435A>C
n.306A>C
c.1194A>C (p.Pro398=)
c.1122A>C (p.Pro374=)
c.585A>C (p.Pro195=)
c.1959A>C (p.Pro653=)
c.1956A>C (p.Pro652=)
c.1893A>C (p.Pro631=)
c.1887A>C (p.Pro629=)
c.1857A>C (p.Pro619=)
c.1695A>C (p.Pro565=)
c.1668A>C (p.Pro556=)
c.1485A>C (p.Pro495=)
c.1458A>C (p.Pro486=)
 gnomAD v4
7g.70777108A>GCA455803105AUTS2c.6A>G (p.Pro2=)
c.1938A>G (p.Pro646=)
c.36A>G (p.Pro12=)
c.273A>G (p.Pro91=)
c.31A>G
n.606A>G
c.519A>G (p.Pro173=)
c.564A>G (p.Pro188=)
c.1935A>G (p.Pro645=)
c.269A>G
n.249A>G
c.803A>G
c.1866A>G (p.Pro622=)
c.36A>G
c.518A>G
n.604A>G
n.435A>G
n.306A>G
c.1194A>G (p.Pro398=)
c.1122A>G (p.Pro374=)
c.585A>G (p.Pro195=)
c.1959A>G (p.Pro653=)
c.1956A>G (p.Pro652=)
c.1893A>G (p.Pro631=)
c.1887A>G (p.Pro629=)
c.1857A>G (p.Pro619=)
c.1695A>G (p.Pro565=)
c.1668A>G (p.Pro556=)
c.1485A>G (p.Pro495=)
c.1458A>G (p.Pro486=)
7g.70777108A>TCA455803106AUTS2c.6A>T (p.Pro2=)
c.1938A>T (p.Pro646=)
c.36A>T (p.Pro12=)
c.273A>T (p.Pro91=)
c.31A>T
n.606A>T
c.519A>T (p.Pro173=)
c.564A>T (p.Pro188=)
c.1935A>T (p.Pro645=)
c.269A>T
n.249A>T
c.803A>T
c.1866A>T (p.Pro622=)
c.36A>T
c.518A>T
n.604A>T
n.435A>T
n.306A>T
c.1194A>T (p.Pro398=)
c.1122A>T (p.Pro374=)
c.585A>T (p.Pro195=)
c.1959A>T (p.Pro653=)
c.1956A>T (p.Pro652=)
c.1893A>T (p.Pro631=)
c.1887A>T (p.Pro629=)
c.1857A>T (p.Pro619=)
c.1695A>T (p.Pro565=)
c.1668A>T (p.Pro556=)
c.1485A>T (p.Pro495=)
c.1458A>T (p.Pro486=)
7g.70777109G>ACA367669721AUTS2c.7G>A (p.Gly3Arg)
c.1939G>A (p.Gly647Arg)
c.37G>A (p.Gly13Arg)
c.274G>A (p.Gly92Arg)
c.32G>A
n.607G>A
c.520G>A (p.Gly174Arg)
c.565G>A (p.Gly189Arg)
c.1936G>A (p.Gly646Arg)
c.270G>A
n.250G>A
c.804G>A
c.1867G>A (p.Gly623Arg)
c.37G>A
c.519G>A
n.605G>A
n.436G>A
n.307G>A
c.1195G>A (p.Gly399Arg)
c.1123G>A (p.Gly375Arg)
c.586G>A (p.Gly196Arg)
c.1960G>A (p.Gly654Arg)
c.1957G>A (p.Gly653Arg)
c.1894G>A (p.Gly632Arg)
c.1888G>A (p.Gly630Arg)
c.1858G>A (p.Gly620Arg)
c.1696G>A (p.Gly566Arg)
c.1669G>A (p.Gly557Arg)
c.1486G>A (p.Gly496Arg)
c.1459G>A (p.Gly487Arg)
7g.70777109G>CCA367669722AUTS2c.7G>C (p.Gly3Arg)
c.1939G>C (p.Gly647Arg)
c.37G>C (p.Gly13Arg)
c.274G>C (p.Gly92Arg)
c.32G>C
n.607G>C
c.520G>C (p.Gly174Arg)
c.565G>C (p.Gly189Arg)
c.1936G>C (p.Gly646Arg)
c.270G>C
n.250G>C
c.804G>C
c.1867G>C (p.Gly623Arg)
c.37G>C
c.519G>C
n.605G>C
n.436G>C
n.307G>C
c.1195G>C (p.Gly399Arg)
c.1123G>C (p.Gly375Arg)
c.586G>C (p.Gly196Arg)
c.1960G>C (p.Gly654Arg)
c.1957G>C (p.Gly653Arg)
c.1894G>C (p.Gly632Arg)
c.1888G>C (p.Gly630Arg)
c.1858G>C (p.Gly620Arg)
c.1696G>C (p.Gly566Arg)
c.1669G>C (p.Gly557Arg)
c.1486G>C (p.Gly496Arg)
c.1459G>C (p.Gly487Arg)
7g.70777109G>TCA367669723AUTS2c.7G>T (p.Gly3Trp)
c.1939G>T (p.Gly647Trp)
c.37G>T (p.Gly13Trp)
c.274G>T (p.Gly92Trp)
c.32G>T
n.607G>T
c.520G>T (p.Gly174Trp)
c.565G>T (p.Gly189Trp)
c.1936G>T (p.Gly646Trp)
c.270G>T
n.250G>T
c.804G>T
c.1867G>T (p.Gly623Trp)
c.37G>T
c.519G>T
n.605G>T
n.436G>T
n.307G>T
c.1195G>T (p.Gly399Trp)
c.1123G>T (p.Gly375Trp)
c.586G>T (p.Gly196Trp)
c.1960G>T (p.Gly654Trp)
c.1957G>T (p.Gly653Trp)
c.1894G>T (p.Gly632Trp)
c.1888G>T (p.Gly630Trp)
c.1858G>T (p.Gly620Trp)
c.1696G>T (p.Gly566Trp)
c.1669G>T (p.Gly557Trp)
c.1486G>T (p.Gly496Trp)
c.1459G>T (p.Gly487Trp)
7g.70777110G>ACA367669724AUTS2c.8G>A (p.Gly3Glu)
c.1940G>A (p.Gly647Glu)
c.38G>A (p.Gly13Glu)
c.275G>A (p.Gly92Glu)
c.33G>A
n.608G>A
c.521G>A (p.Gly174Glu)
c.566G>A (p.Gly189Glu)
c.1937G>A (p.Gly646Glu)
c.271G>A
n.251G>A
c.805G>A
c.1868G>A (p.Gly623Glu)
c.38G>A
c.520G>A
n.606G>A
n.437G>A
n.308G>A
c.1196G>A (p.Gly399Glu)
c.1124G>A (p.Gly375Glu)
c.587G>A (p.Gly196Glu)
c.1961G>A (p.Gly654Glu)
c.1958G>A (p.Gly653Glu)
c.1895G>A (p.Gly632Glu)
c.1889G>A (p.Gly630Glu)
c.1859G>A (p.Gly620Glu)
c.1697G>A (p.Gly566Glu)
c.1670G>A (p.Gly557Glu)
c.1487G>A (p.Gly496Glu)
c.1460G>A (p.Gly487Glu)
 dbSNP gnomAD v2 gnomAD v4
7g.70777110G>CCA367669725AUTS2c.8G>C (p.Gly3Ala)
c.1940G>C (p.Gly647Ala)
c.38G>C (p.Gly13Ala)
c.275G>C (p.Gly92Ala)
c.33G>C
n.608G>C
c.521G>C (p.Gly174Ala)
c.566G>C (p.Gly189Ala)
c.1937G>C (p.Gly646Ala)
c.271G>C
n.251G>C
c.805G>C
c.1868G>C (p.Gly623Ala)
c.38G>C
c.520G>C
n.606G>C
n.437G>C
n.308G>C
c.1196G>C (p.Gly399Ala)
c.1124G>C (p.Gly375Ala)
c.587G>C (p.Gly196Ala)
c.1961G>C (p.Gly654Ala)
c.1958G>C (p.Gly653Ala)
c.1895G>C (p.Gly632Ala)
c.1889G>C (p.Gly630Ala)
c.1859G>C (p.Gly620Ala)
c.1697G>C (p.Gly566Ala)
c.1670G>C (p.Gly557Ala)
c.1487G>C (p.Gly496Ala)
c.1460G>C (p.Gly487Ala)
7g.70777110G=CA1716145413AUTS2c.8G= (p.Gly3=)
c.1940G= (p.Gly647=)
c.38G= (p.Gly13=)
c.275G= (p.Gly92=)
c.33G=
n.608G=
c.521G= (p.Gly174=)
c.566G= (p.Gly189=)
c.1937G= (p.Gly646=)
c.271G=
n.251G=
c.805G=
c.1868G= (p.Gly623=)
c.38G=
c.520G=
n.606G=
n.437G=
n.308G=
c.1196G= (p.Gly399=)
c.1124G= (p.Gly375=)
c.587G= (p.Gly196=)
c.1961G= (p.Gly654=)
c.1958G= (p.Gly653=)
c.1895G= (p.Gly632=)
c.1889G= (p.Gly630=)
c.1859G= (p.Gly620=)
c.1697G= (p.Gly566=)
c.1670G= (p.Gly557=)
c.1487G= (p.Gly496=)
c.1460G= (p.Gly487=)
7g.70777110G>TCA367669726AUTS2c.8G>T (p.Gly3Val)
c.1940G>T (p.Gly647Val)
c.38G>T (p.Gly13Val)
c.275G>T (p.Gly92Val)
c.33G>T
n.608G>T
c.521G>T (p.Gly174Val)
c.566G>T (p.Gly189Val)
c.1937G>T (p.Gly646Val)
c.271G>T
n.251G>T
c.805G>T
c.1868G>T (p.Gly623Val)
c.38G>T
c.520G>T
n.606G>T
n.437G>T
n.308G>T
c.1196G>T (p.Gly399Val)
c.1124G>T (p.Gly375Val)
c.587G>T (p.Gly196Val)
c.1961G>T (p.Gly654Val)
c.1958G>T (p.Gly653Val)
c.1895G>T (p.Gly632Val)
c.1889G>T (p.Gly630Val)
c.1859G>T (p.Gly620Val)
c.1697G>T (p.Gly566Val)
c.1670G>T (p.Gly557Val)
c.1487G>T (p.Gly496Val)
c.1460G>T (p.Gly487Val)
7g.70777111G>ACA455803109AUTS2c.9G>A (p.Gly3=)
c.1941G>A (p.Gly647=)
c.39G>A (p.Gly13=)
c.276G>A (p.Gly92=)
c.34G>A
n.609G>A
c.522G>A (p.Gly174=)
c.567G>A (p.Gly189=)
c.1938G>A (p.Gly646=)
c.272G>A
n.252G>A
c.806G>A
c.1869G>A (p.Gly623=)
c.39G>A
c.521G>A
n.607G>A
n.438G>A
n.309G>A
c.1197G>A (p.Gly399=)
c.1125G>A (p.Gly375=)
c.588G>A (p.Gly196=)
c.1962G>A (p.Gly654=)
c.1959G>A (p.Gly653=)
c.1896G>A (p.Gly632=)
c.1890G>A (p.Gly630=)
c.1860G>A (p.Gly620=)
c.1698G>A (p.Gly566=)
c.1671G>A (p.Gly557=)
c.1488G>A (p.Gly496=)
c.1461G>A (p.Gly487=)
7g.70777111G>CCA455803110AUTS2c.9G>C (p.Gly3=)
c.1941G>C (p.Gly647=)
c.39G>C (p.Gly13=)
c.276G>C (p.Gly92=)
c.34G>C
n.609G>C
c.522G>C (p.Gly174=)
c.567G>C (p.Gly189=)
c.1938G>C (p.Gly646=)
c.272G>C
n.252G>C
c.806G>C
c.1869G>C (p.Gly623=)
c.39G>C
c.521G>C
n.607G>C
n.438G>C
n.309G>C
c.1197G>C (p.Gly399=)
c.1125G>C (p.Gly375=)
c.588G>C (p.Gly196=)
c.1962G>C (p.Gly654=)
c.1959G>C (p.Gly653=)
c.1896G>C (p.Gly632=)
c.1890G>C (p.Gly630=)
c.1860G>C (p.Gly620=)
c.1698G>C (p.Gly566=)
c.1671G>C (p.Gly557=)
c.1488G>C (p.Gly496=)
c.1461G>C (p.Gly487=)
 ClinVar dbSNP gnomAD v4
7g.70777111G=CA1716145419AUTS2c.9G= (p.Gly3=)
c.1941G= (p.Gly647=)
c.39G= (p.Gly13=)
c.276G= (p.Gly92=)
c.34G=
n.609G=
c.522G= (p.Gly174=)
c.567G= (p.Gly189=)
c.1938G= (p.Gly646=)
c.272G=
n.252G=
c.806G=
c.1869G= (p.Gly623=)
c.39G=
c.521G=
n.607G=
n.438G=
n.309G=
c.1197G= (p.Gly399=)
c.1125G= (p.Gly375=)
c.588G= (p.Gly196=)
c.1962G= (p.Gly654=)
c.1959G= (p.Gly653=)
c.1896G= (p.Gly632=)
c.1890G= (p.Gly630=)
c.1860G= (p.Gly620=)
c.1698G= (p.Gly566=)
c.1671G= (p.Gly557=)
c.1488G= (p.Gly496=)
c.1461G= (p.Gly487=)
7g.70777111G>TCA455803108AUTS2c.9G>T (p.Gly3=)
c.1941G>T (p.Gly647=)
c.39G>T (p.Gly13=)
c.276G>T (p.Gly92=)
c.34G>T
n.609G>T
c.522G>T (p.Gly174=)
c.567G>T (p.Gly189=)
c.1938G>T (p.Gly646=)
c.272G>T
n.252G>T
c.806G>T
c.1869G>T (p.Gly623=)
c.39G>T
c.521G>T
n.607G>T
n.438G>T
n.309G>T
c.1197G>T (p.Gly399=)
c.1125G>T (p.Gly375=)
c.588G>T (p.Gly196=)
c.1962G>T (p.Gly654=)
c.1959G>T (p.Gly653=)
c.1896G>T (p.Gly632=)
c.1890G>T (p.Gly630=)
c.1860G>T (p.Gly620=)
c.1698G>T (p.Gly566=)
c.1671G>T (p.Gly557=)
c.1488G>T (p.Gly496=)
c.1461G>T (p.Gly487=)
7g.70777112A>CCA367669727AUTS2c.10A>C (p.Lys4Gln)
c.1942A>C (p.Lys648Gln)
c.40A>C (p.Lys14Gln)
c.277A>C (p.Lys93Gln)
c.35A>C
n.610A>C
c.523A>C (p.Lys175Gln)
c.568A>C (p.Lys190Gln)
c.1939A>C (p.Lys647Gln)
c.273A>C
n.253A>C
c.807A>C
c.1870A>C (p.Lys624Gln)
c.40A>C
c.522A>C
n.608A>C
n.439A>C
n.310A>C
c.1198A>C (p.Lys400Gln)
c.1126A>C (p.Lys376Gln)
c.589A>C (p.Lys197Gln)
c.1963A>C (p.Lys655Gln)
c.1960A>C (p.Lys654Gln)
c.1897A>C (p.Lys633Gln)
c.1891A>C (p.Lys631Gln)
c.1861A>C (p.Lys621Gln)
c.1699A>C (p.Lys567Gln)
c.1672A>C (p.Lys558Gln)
c.1489A>C (p.Lys497Gln)
c.1462A>C (p.Lys488Gln)
7g.70777112A>GCA367669729AUTS2c.10A>G (p.Lys4Glu)
c.1942A>G (p.Lys648Glu)
c.40A>G (p.Lys14Glu)
c.277A>G (p.Lys93Glu)
c.35A>G
n.610A>G
c.523A>G (p.Lys175Glu)
c.568A>G (p.Lys190Glu)
c.1939A>G (p.Lys647Glu)
c.273A>G
n.253A>G
c.807A>G
c.1870A>G (p.Lys624Glu)
c.40A>G
c.522A>G
n.608A>G
n.439A>G
n.310A>G
c.1198A>G (p.Lys400Glu)
c.1126A>G (p.Lys376Glu)
c.589A>G (p.Lys197Glu)
c.1963A>G (p.Lys655Glu)
c.1960A>G (p.Lys654Glu)
c.1897A>G (p.Lys633Glu)
c.1891A>G (p.Lys631Glu)
c.1861A>G (p.Lys621Glu)
c.1699A>G (p.Lys567Glu)
c.1672A>G (p.Lys558Glu)
c.1489A>G (p.Lys497Glu)
c.1462A>G (p.Lys488Glu)
7g.70777112A>TCA367669728AUTS2c.10A>T (p.Lys4Ter)
c.1942A>T (p.Lys648Ter)
c.40A>T (p.Lys14Ter)
c.277A>T (p.Lys93Ter)
c.35A>T
n.610A>T
c.523A>T (p.Lys175Ter)
c.568A>T (p.Lys190Ter)
c.1939A>T (p.Lys647Ter)
c.273A>T
n.253A>T
c.807A>T
c.1870A>T (p.Lys624Ter)
c.40A>T
c.522A>T
n.608A>T
n.439A>T
n.310A>T
c.1198A>T (p.Lys400Ter)
c.1126A>T (p.Lys376Ter)
c.589A>T (p.Lys197Ter)
c.1963A>T (p.Lys655Ter)
c.1960A>T (p.Lys654Ter)
c.1897A>T (p.Lys633Ter)
c.1891A>T (p.Lys631Ter)
c.1861A>T (p.Lys621Ter)
c.1699A>T (p.Lys567Ter)
c.1672A>T (p.Lys558Ter)
c.1489A>T (p.Lys497Ter)
c.1462A>T (p.Lys488Ter)
7g.70777113A=CA1716145424AUTS2c.11A= (p.Lys4=)
c.1943A= (p.Lys648=)
c.41A= (p.Lys14=)
c.278A= (p.Lys93=)
c.36A=
n.611A=
c.524A= (p.Lys175=)
c.569A= (p.Lys190=)
c.1940A= (p.Lys647=)
c.274A=
n.254A=
c.808A=
c.1871A= (p.Lys624=)
c.41A=
c.523A=
n.609A=
n.440A=
n.311A=
c.1199A= (p.Lys400=)
c.1127A= (p.Lys376=)
c.590A= (p.Lys197=)
c.1964A= (p.Lys655=)
c.1961A= (p.Lys654=)
c.1898A= (p.Lys633=)
c.1892A= (p.Lys631=)
c.1862A= (p.Lys621=)
c.1700A= (p.Lys567=)
c.1673A= (p.Lys558=)
c.1490A= (p.Lys497=)
c.1463A= (p.Lys488=)
7g.70777113A>CCA367669730AUTS2c.11A>C (p.Lys4Thr)
c.1943A>C (p.Lys648Thr)
c.41A>C (p.Lys14Thr)
c.278A>C (p.Lys93Thr)
c.36A>C
n.611A>C
c.524A>C (p.Lys175Thr)
c.569A>C (p.Lys190Thr)
c.1940A>C (p.Lys647Thr)
c.274A>C
n.254A>C
c.808A>C
c.1871A>C (p.Lys624Thr)
c.41A>C
c.523A>C
n.609A>C
n.440A>C
n.311A>C
c.1199A>C (p.Lys400Thr)
c.1127A>C (p.Lys376Thr)
c.590A>C (p.Lys197Thr)
c.1964A>C (p.Lys655Thr)
c.1961A>C (p.Lys654Thr)
c.1898A>C (p.Lys633Thr)
c.1892A>C (p.Lys631Thr)
c.1862A>C (p.Lys621Thr)
c.1700A>C (p.Lys567Thr)
c.1673A>C (p.Lys558Thr)
c.1490A>C (p.Lys497Thr)
c.1463A>C (p.Lys488Thr)
7g.70777113A>GCA367669731AUTS2c.11A>G (p.Lys4Arg)
c.1943A>G (p.Lys648Arg)
c.41A>G (p.Lys14Arg)
c.278A>G (p.Lys93Arg)
c.36A>G
n.611A>G
c.524A>G (p.Lys175Arg)
c.569A>G (p.Lys190Arg)
c.1940A>G (p.Lys647Arg)
c.274A>G
n.254A>G
c.808A>G
c.1871A>G (p.Lys624Arg)
c.41A>G
c.523A>G
n.609A>G
n.440A>G
n.311A>G
c.1199A>G (p.Lys400Arg)
c.1127A>G (p.Lys376Arg)
c.590A>G (p.Lys197Arg)
c.1964A>G (p.Lys655Arg)
c.1961A>G (p.Lys654Arg)
c.1898A>G (p.Lys633Arg)
c.1892A>G (p.Lys631Arg)
c.1862A>G (p.Lys621Arg)
c.1700A>G (p.Lys567Arg)
c.1673A>G (p.Lys558Arg)
c.1490A>G (p.Lys497Arg)
c.1463A>G (p.Lys488Arg)
 dbSNP
7g.70777113A>TCA367669732AUTS2c.11A>T (p.Lys4Met)
c.1943A>T (p.Lys648Met)
c.41A>T (p.Lys14Met)
c.278A>T (p.Lys93Met)
c.36A>T
n.611A>T
c.524A>T (p.Lys175Met)
c.569A>T (p.Lys190Met)
c.1940A>T (p.Lys647Met)
c.274A>T
n.254A>T
c.808A>T
c.1871A>T (p.Lys624Met)
c.41A>T
c.523A>T
n.609A>T
n.440A>T
n.311A>T
c.1199A>T (p.Lys400Met)
c.1127A>T (p.Lys376Met)
c.590A>T (p.Lys197Met)
c.1964A>T (p.Lys655Met)
c.1961A>T (p.Lys654Met)
c.1898A>T (p.Lys633Met)
c.1892A>T (p.Lys631Met)
c.1862A>T (p.Lys621Met)
c.1700A>T (p.Lys567Met)
c.1673A>T (p.Lys558Met)
c.1490A>T (p.Lys497Met)
c.1463A>T (p.Lys488Met)
7g.70777114G>ACA4280857AUTS2c.12G>A (p.Lys4=)
c.1944G>A (p.Lys648=)
c.42G>A (p.Lys14=)
c.279G>A (p.Lys93=)
c.37G>A
n.612G>A
c.525G>A (p.Lys175=)
c.570G>A (p.Lys190=)
c.1941G>A (p.Lys647=)
c.275G>A
n.255G>A
c.809G>A
c.1872G>A (p.Lys624=)
c.42G>A
c.524G>A
n.610G>A
n.441G>A
n.312G>A
c.1200G>A (p.Lys400=)
c.1128G>A (p.Lys376=)
c.591G>A (p.Lys197=)
c.1965G>A (p.Lys655=)
c.1962G>A (p.Lys654=)
c.1899G>A (p.Lys633=)
c.1893G>A (p.Lys631=)
c.1863G>A (p.Lys621=)
c.1701G>A (p.Lys567=)
c.1674G>A (p.Lys558=)
c.1491G>A (p.Lys497=)
c.1464G>A (p.Lys488=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.70777114G>CCA367669733AUTS2c.12G>C (p.Lys4Asn)
c.1944G>C (p.Lys648Asn)
c.42G>C (p.Lys14Asn)
c.279G>C (p.Lys93Asn)
c.37G>C
n.612G>C
c.525G>C (p.Lys175Asn)
c.570G>C (p.Lys190Asn)
c.1941G>C (p.Lys647Asn)
c.275G>C
n.255G>C
c.809G>C
c.1872G>C (p.Lys624Asn)
c.42G>C
c.524G>C
n.610G>C
n.441G>C
n.312G>C
c.1200G>C (p.Lys400Asn)
c.1128G>C (p.Lys376Asn)
c.591G>C (p.Lys197Asn)
c.1965G>C (p.Lys655Asn)
c.1962G>C (p.Lys654Asn)
c.1899G>C (p.Lys633Asn)
c.1893G>C (p.Lys631Asn)
c.1863G>C (p.Lys621Asn)
c.1701G>C (p.Lys567Asn)
c.1674G>C (p.Lys558Asn)
c.1491G>C (p.Lys497Asn)
c.1464G>C (p.Lys488Asn)
 ClinVar gnomAD v4
7g.70777114G=CA1716145428AUTS2c.12G= (p.Lys4=)
c.1944G= (p.Lys648=)
c.42G= (p.Lys14=)
c.279G= (p.Lys93=)
c.37G=
n.612G=
c.525G= (p.Lys175=)
c.570G= (p.Lys190=)
c.1941G= (p.Lys647=)
c.275G=
n.255G=
c.809G=
c.1872G= (p.Lys624=)
c.42G=
c.524G=
n.610G=
n.441G=
n.312G=
c.1200G= (p.Lys400=)
c.1128G= (p.Lys376=)
c.591G= (p.Lys197=)
c.1965G= (p.Lys655=)
c.1962G= (p.Lys654=)
c.1899G= (p.Lys633=)
c.1893G= (p.Lys631=)
c.1863G= (p.Lys621=)
c.1701G= (p.Lys567=)
c.1674G= (p.Lys558=)
c.1491G= (p.Lys497=)
c.1464G= (p.Lys488=)
7g.70777114G>TCA367669734AUTS2c.12G>T (p.Lys4Asn)
c.1944G>T (p.Lys648Asn)
c.42G>T (p.Lys14Asn)
c.279G>T (p.Lys93Asn)
c.37G>T
n.612G>T
c.525G>T (p.Lys175Asn)
c.570G>T (p.Lys190Asn)
c.1941G>T (p.Lys647Asn)
c.275G>T
n.255G>T
c.809G>T
c.1872G>T (p.Lys624Asn)
c.42G>T
c.524G>T
n.610G>T
n.441G>T
n.312G>T
c.1200G>T (p.Lys400Asn)
c.1128G>T (p.Lys376Asn)
c.591G>T (p.Lys197Asn)
c.1965G>T (p.Lys655Asn)
c.1962G>T (p.Lys654Asn)
c.1899G>T (p.Lys633Asn)
c.1893G>T (p.Lys631Asn)
c.1863G>T (p.Lys621Asn)
c.1701G>T (p.Lys567Asn)
c.1674G>T (p.Lys558Asn)
c.1491G>T (p.Lys497Asn)
c.1464G>T (p.Lys488Asn)
7g.70777115T>ACA367669735AUTS2c.13T>A (p.Trp5Arg)
c.1945T>A (p.Trp649Arg)
c.43T>A (p.Trp15Arg)
c.280T>A (p.Trp94Arg)
c.38T>A
n.613T>A
c.526T>A (p.Trp176Arg)
c.571T>A (p.Trp191Arg)
c.1942T>A (p.Trp648Arg)
c.276T>A
n.256T>A
c.810T>A
c.1873T>A (p.Trp625Arg)
c.43T>A
c.525T>A
n.611T>A
n.442T>A
n.313T>A
c.1201T>A (p.Trp401Arg)
c.1129T>A (p.Trp377Arg)
c.592T>A (p.Trp198Arg)
c.1966T>A (p.Trp656Arg)
c.1963T>A (p.Trp655Arg)
c.1900T>A (p.Trp634Arg)
c.1894T>A (p.Trp632Arg)
c.1864T>A (p.Trp622Arg)
c.1702T>A (p.Trp568Arg)
c.1675T>A (p.Trp559Arg)
c.1492T>A (p.Trp498Arg)
c.1465T>A (p.Trp489Arg)
7g.70777115T>CCA367669736AUTS2c.13T>C (p.Trp5Arg)
c.1945T>C (p.Trp649Arg)
c.43T>C (p.Trp15Arg)
c.280T>C (p.Trp94Arg)
c.38T>C
n.613T>C
c.526T>C (p.Trp176Arg)
c.571T>C (p.Trp191Arg)
c.1942T>C (p.Trp648Arg)
c.276T>C
n.256T>C
c.810T>C
c.1873T>C (p.Trp625Arg)
c.43T>C
c.525T>C
n.611T>C
n.442T>C
n.313T>C
c.1201T>C (p.Trp401Arg)
c.1129T>C (p.Trp377Arg)
c.592T>C (p.Trp198Arg)
c.1966T>C (p.Trp656Arg)
c.1963T>C (p.Trp655Arg)
c.1900T>C (p.Trp634Arg)
c.1894T>C (p.Trp632Arg)
c.1864T>C (p.Trp622Arg)
c.1702T>C (p.Trp568Arg)
c.1675T>C (p.Trp559Arg)
c.1492T>C (p.Trp498Arg)
c.1465T>C (p.Trp489Arg)
7g.70777115T>GCA367669737AUTS2c.13T>G (p.Trp5Gly)
c.1945T>G (p.Trp649Gly)
c.43T>G (p.Trp15Gly)
c.280T>G (p.Trp94Gly)
c.38T>G
n.613T>G
c.526T>G (p.Trp176Gly)
c.571T>G (p.Trp191Gly)
c.1942T>G (p.Trp648Gly)
c.276T>G
n.256T>G
c.810T>G
c.1873T>G (p.Trp625Gly)
c.43T>G
c.525T>G
n.611T>G
n.442T>G
n.313T>G
c.1201T>G (p.Trp401Gly)
c.1129T>G (p.Trp377Gly)
c.592T>G (p.Trp198Gly)
c.1966T>G (p.Trp656Gly)
c.1963T>G (p.Trp655Gly)
c.1900T>G (p.Trp634Gly)
c.1894T>G (p.Trp632Gly)
c.1864T>G (p.Trp622Gly)
c.1702T>G (p.Trp568Gly)
c.1675T>G (p.Trp559Gly)
c.1492T>G (p.Trp498Gly)
c.1465T>G (p.Trp489Gly)

Number of alleles fetched