Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.70777052G>ACA4280850AUTS2c.1861-51G>A (p.=)
c.1933-51G>A (p.=)
c.580-51G>A (p.=)
c.1954-51G>A (p.=)
c.1951-51G>A (p.=)
c.1888-51G>A (p.=)
c.1882-51G>A (p.=)
c.1852-51G>A (p.=)
c.1690-51G>A (p.=)
c.1663-51G>A (p.=)
c.1480-51G>A (p.=)
c.1453-51G>A (p.=)
n.31-51G>A
n.513-51G>A
n.599-51G>A
n.379G>A
n.301-51G>A
c.1189-51G>A (p.=)
c.1117-51G>A (p.=)
dbSNP ExAC gnomAD
7g.70777052G>TCA4280849AUTS2c.1861-51G>T (p.=)
c.1933-51G>T (p.=)
c.580-51G>T (p.=)
c.1954-51G>T (p.=)
c.1951-51G>T (p.=)
c.1888-51G>T (p.=)
c.1882-51G>T (p.=)
c.1852-51G>T (p.=)
c.1690-51G>T (p.=)
c.1663-51G>T (p.=)
c.1480-51G>T (p.=)
c.1453-51G>T (p.=)
n.31-51G>T
n.513-51G>T
n.599-51G>T
n.379G>T
n.301-51G>T
c.1189-51G>T (p.=)
c.1117-51G>T (p.=)
dbSNP ExAC gnomAD
7g.70777059C>GCA575288426AUTS2c.1861-44C>G (p.=)
c.1933-44C>G (p.=)
c.580-44C>G (p.=)
c.1954-44C>G (p.=)
c.1951-44C>G (p.=)
c.1888-44C>G (p.=)
c.1882-44C>G (p.=)
c.1852-44C>G (p.=)
c.1690-44C>G (p.=)
c.1663-44C>G (p.=)
c.1480-44C>G (p.=)
c.1453-44C>G (p.=)
n.31-44C>G
n.513-44C>G
n.599-44C>G
n.386C>G
n.301-44C>G
c.1189-44C>G (p.=)
c.1117-44C>G (p.=)
gnomAD
7g.70777063A>TCA841716939AUTS2c.1861-40A>T (p.=)
c.1933-40A>T (p.=)
c.580-40A>T (p.=)
c.1954-40A>T (p.=)
c.1951-40A>T (p.=)
c.1888-40A>T (p.=)
c.1882-40A>T (p.=)
c.1852-40A>T (p.=)
c.1690-40A>T (p.=)
c.1663-40A>T (p.=)
c.1480-40A>T (p.=)
c.1453-40A>T (p.=)
n.31-40A>T
n.513-40A>T
n.599-40A>T
n.390A>T
n.301-40A>T
c.1189-40A>T (p.=)
c.1117-40A>T (p.=)
7g.70777064A>GCA575288427AUTS2c.1861-39A>G (p.=)
c.1933-39A>G (p.=)
c.580-39A>G (p.=)
c.1954-39A>G (p.=)
c.1951-39A>G (p.=)
c.1888-39A>G (p.=)
c.1882-39A>G (p.=)
c.1852-39A>G (p.=)
c.1690-39A>G (p.=)
c.1663-39A>G (p.=)
c.1480-39A>G (p.=)
c.1453-39A>G (p.=)
n.31-39A>G
n.513-39A>G
n.599-39A>G
n.391A>G
n.301-39A>G
c.1189-39A>G (p.=)
c.1117-39A>G (p.=)
gnomAD
7g.70777066G>ACA160034208AUTS2c.1861-37G>A (p.=)
c.1933-37G>A (p.=)
c.580-37G>A (p.=)
c.1954-37G>A (p.=)
c.1951-37G>A (p.=)
c.1888-37G>A (p.=)
c.1882-37G>A (p.=)
c.1852-37G>A (p.=)
c.1690-37G>A (p.=)
c.1663-37G>A (p.=)
c.1480-37G>A (p.=)
c.1453-37G>A (p.=)
n.31-37G>A
n.513-37G>A
n.599-37G>A
n.393G>A
n.301-37G>A
c.1189-37G>A (p.=)
c.1117-37G>A (p.=)
dbSNP
7g.70777071C>TCA575288429AUTS2c.1861-32C>T (p.=)
c.1933-32C>T (p.=)
c.580-32C>T (p.=)
c.1954-32C>T (p.=)
c.1951-32C>T (p.=)
c.1888-32C>T (p.=)
c.1882-32C>T (p.=)
c.1852-32C>T (p.=)
c.1690-32C>T (p.=)
c.1663-32C>T (p.=)
c.1480-32C>T (p.=)
c.1453-32C>T (p.=)
n.31-32C>T
n.513-32C>T
n.599-32C>T
n.398C>T
n.301-32C>T
c.1189-32C>T (p.=)
c.1117-32C>T (p.=)
gnomAD
7g.70777072delCA575288428AUTS2c.1861-31del (p.=)
c.1933-31del (p.=)
c.580-31del (p.=)
c.1954-31del (p.=)
c.1951-31del (p.=)
c.1888-31del (p.=)
c.1882-31del (p.=)
c.1852-31del (p.=)
c.1690-31del (p.=)
c.1663-31del (p.=)
c.1480-31del (p.=)
c.1453-31del (p.=)
n.31-31del
n.513-31del
n.599-31del
n.399del
n.301-31del
c.1189-31del (p.=)
c.1117-31del (p.=)
gnomAD
7g.70777081A>GCA4280851AUTS2c.1861-22A>G (p.=)
c.1933-22A>G (p.=)
c.580-22A>G (p.=)
c.1954-22A>G (p.=)
c.1951-22A>G (p.=)
c.1888-22A>G (p.=)
c.1882-22A>G (p.=)
c.1852-22A>G (p.=)
c.1690-22A>G (p.=)
c.1663-22A>G (p.=)
c.1480-22A>G (p.=)
c.1453-22A>G (p.=)
n.31-22A>G
n.513-22A>G
n.599-22A>G
n.408A>G
n.301-22A>G
c.1189-22A>G (p.=)
c.1117-22A>G (p.=)
dbSNP ExAC gnomAD
7g.70777082C>TCA4280852AUTS2c.1861-21C>T (p.=)
c.1933-21C>T (p.=)
c.580-21C>T (p.=)
c.1954-21C>T (p.=)
c.1951-21C>T (p.=)
c.1888-21C>T (p.=)
c.1882-21C>T (p.=)
c.1852-21C>T (p.=)
c.1690-21C>T (p.=)
c.1663-21C>T (p.=)
c.1480-21C>T (p.=)
c.1453-21C>T (p.=)
n.31-21C>T
n.513-21C>T
n.599-21C>T
n.409C>T
n.301-21C>T
c.1189-21C>T (p.=)
c.1117-21C>T (p.=)
dbSNP ExAC gnomAD
7g.70777083G>ACA4280853AUTS2c.1861-20G>A (p.=)
c.1933-20G>A (p.=)
c.580-20G>A (p.=)
c.1954-20G>A (p.=)
c.1951-20G>A (p.=)
c.1888-20G>A (p.=)
c.1882-20G>A (p.=)
c.1852-20G>A (p.=)
c.1690-20G>A (p.=)
c.1663-20G>A (p.=)
c.1480-20G>A (p.=)
c.1453-20G>A (p.=)
n.31-20G>A
n.513-20G>A
n.599-20G>A
n.410G>A
n.301-20G>A
c.1189-20G>A (p.=)
c.1117-20G>A (p.=)
dbSNP ExAC gnomAD
7g.70777089C>GCA4280854AUTS2c.1861-14C>G (p.=)
c.1933-14C>G (p.=)
c.580-14C>G (p.=)
c.1954-14C>G (p.=)
c.1951-14C>G (p.=)
c.1888-14C>G (p.=)
c.1882-14C>G (p.=)
c.1852-14C>G (p.=)
c.1690-14C>G (p.=)
c.1663-14C>G (p.=)
c.1480-14C>G (p.=)
c.1453-14C>G (p.=)
n.31-14C>G
n.513-14C>G
n.599-14C>G
n.416C>G
n.301-14C>G
c.1189-14C>G (p.=)
c.1117-14C>G (p.=)
dbSNP ExAC gnomAD
7g.70777099C>GCA575288430AUTS2c.1861-4C>G (p.=)
c.1933-4C>G (p.=)
c.580-4C>G (p.=)
c.1954-4C>G (p.=)
c.1951-4C>G (p.=)
c.1888-4C>G (p.=)
c.1882-4C>G (p.=)
c.1852-4C>G (p.=)
c.1690-4C>G (p.=)
c.1663-4C>G (p.=)
c.1480-4C>G (p.=)
c.1453-4C>G (p.=)
n.31-4C>G
n.513-4C>G
n.599-4C>G
n.426C>G
n.301-4C>G
c.1189-4C>G (p.=)
c.1117-4C>G (p.=)
gnomAD
7g.70777100C>TCA4280855AUTS2c.1861-3C>T (p.=)
c.1933-3C>T (p.=)
c.580-3C>T (p.=)
c.1954-3C>T (p.=)
c.1951-3C>T (p.=)
c.1888-3C>T (p.=)
c.1882-3C>T (p.=)
c.1852-3C>T (p.=)
c.1690-3C>T (p.=)
c.1663-3C>T (p.=)
c.1480-3C>T (p.=)
c.1453-3C>T (p.=)
n.31-3C>T
n.513-3C>T
n.599-3C>T
n.427C>T
n.301-3C>T
c.1189-3C>T (p.=)
c.1117-3C>T (p.=)
dbSNP ExAC gnomAD
7g.70777101A>CCA367669701AUTS2c.1861-2A>C (p.=)
c.1933-2A>C (p.=)
c.580-2A>C (p.=)
c.1954-2A>C (p.=)
c.1951-2A>C (p.=)
c.1888-2A>C (p.=)
c.1882-2A>C (p.=)
c.1852-2A>C (p.=)
c.1690-2A>C (p.=)
c.1663-2A>C (p.=)
c.1480-2A>C (p.=)
c.1453-2A>C (p.=)
n.31-2A>C
n.513-2A>C
n.599-2A>C
n.428A>C
n.301-2A>C
c.1189-2A>C (p.=)
c.1117-2A>C (p.=)
7g.70777101A>GCA367669703AUTS2c.1861-2A>G (p.=)
c.1933-2A>G (p.=)
c.580-2A>G (p.=)
c.1954-2A>G (p.=)
c.1951-2A>G (p.=)
c.1888-2A>G (p.=)
c.1882-2A>G (p.=)
c.1852-2A>G (p.=)
c.1690-2A>G (p.=)
c.1663-2A>G (p.=)
c.1480-2A>G (p.=)
c.1453-2A>G (p.=)
n.31-2A>G
n.513-2A>G
n.599-2A>G
n.428A>G
n.301-2A>G
c.1189-2A>G (p.=)
c.1117-2A>G (p.=)
7g.70777101A>TCA367669702AUTS2c.1861-2A>T (p.=)
c.1933-2A>T (p.=)
c.580-2A>T (p.=)
c.1954-2A>T (p.=)
c.1951-2A>T (p.=)
c.1888-2A>T (p.=)
c.1882-2A>T (p.=)
c.1852-2A>T (p.=)
c.1690-2A>T (p.=)
c.1663-2A>T (p.=)
c.1480-2A>T (p.=)
c.1453-2A>T (p.=)
n.31-2A>T
n.513-2A>T
n.599-2A>T
n.428A>T
n.301-2A>T
c.1189-2A>T (p.=)
c.1117-2A>T (p.=)
7g.70777102G>ACA367669704AUTS2c.1861-1G>A (p.=)
c.1933-1G>A (p.=)
c.580-1G>A (p.=)
c.1954-1G>A (p.=)
c.1951-1G>A (p.=)
c.1888-1G>A (p.=)
c.1882-1G>A (p.=)
c.1852-1G>A (p.=)
c.1690-1G>A (p.=)
c.1663-1G>A (p.=)
c.1480-1G>A (p.=)
c.1453-1G>A (p.=)
n.31-1G>A
n.513-1G>A
n.599-1G>A
n.429G>A
n.301-1G>A
c.1189-1G>A (p.=)
c.1117-1G>A (p.=)
7g.70777102G>CCA367669706AUTS2c.1861-1G>C (p.=)
c.1933-1G>C (p.=)
c.580-1G>C (p.=)
c.1954-1G>C (p.=)
c.1951-1G>C (p.=)
c.1888-1G>C (p.=)
c.1882-1G>C (p.=)
c.1852-1G>C (p.=)
c.1690-1G>C (p.=)
c.1663-1G>C (p.=)
c.1480-1G>C (p.=)
c.1453-1G>C (p.=)
n.31-1G>C
n.513-1G>C
n.599-1G>C
n.429G>C
n.301-1G>C
c.1189-1G>C (p.=)
c.1117-1G>C (p.=)
7g.70777102G>TCA367669705AUTS2c.1861-1G>T (p.=)
c.1933-1G>T (p.=)
c.580-1G>T (p.=)
c.1954-1G>T (p.=)
c.1951-1G>T (p.=)
c.1888-1G>T (p.=)
c.1882-1G>T (p.=)
c.1852-1G>T (p.=)
c.1690-1G>T (p.=)
c.1663-1G>T (p.=)
c.1480-1G>T (p.=)
c.1453-1G>T (p.=)
n.31-1G>T
n.513-1G>T
n.599-1G>T
n.429G>T
n.301-1G>T
c.1189-1G>T (p.=)
c.1117-1G>T (p.=)
7g.70777103A>CCA367669707AUTS2c.1861A>C (p.Lys621Gln)
c.1933A>C (p.Lys645Gln)
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)
n.31A>C
n.513A>C
n.599A>C
n.430A>C
n.301A>C
c.1189A>C (p.Lys397Gln)
c.1117A>C (p.Lys373Gln)
7g.70777103A>GCA367669709AUTS2c.1861A>G (p.Lys621Glu)
c.1933A>G (p.Lys645Glu)
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)
n.31A>G
n.513A>G
n.599A>G
n.430A>G
n.301A>G
c.1189A>G (p.Lys397Glu)
c.1117A>G (p.Lys373Glu)
7g.70777103A>TCA367669708AUTS2c.1861A>T (p.Lys621Ter)
c.1933A>T (p.Lys645Ter)
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)
n.31A>T
n.513A>T
n.599A>T
n.430A>T
n.301A>T
c.1189A>T (p.Lys397Ter)
c.1117A>T (p.Lys373Ter)
7g.70777104A>CCA367669710AUTS2c.1862A>C (p.Lys621Thr)
c.1934A>C (p.Lys645Thr)
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)
n.32A>C
n.514A>C
n.600A>C
n.431A>C
n.302A>C
c.1190A>C (p.Lys397Thr)
c.1118A>C (p.Lys373Thr)
7g.70777104A>GCA367669712AUTS2c.1862A>G (p.Lys621Arg)
c.1934A>G (p.Lys645Arg)
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)
n.32A>G
n.514A>G
n.600A>G
n.431A>G
n.302A>G
c.1190A>G (p.Lys397Arg)
c.1118A>G (p.Lys373Arg)
7g.70777104A>TCA367669711AUTS2c.1862A>T (p.Lys621Ile)
c.1934A>T (p.Lys645Ile)
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)
n.32A>T
n.514A>T
n.600A>T
n.431A>T
n.302A>T
c.1190A>T (p.Lys397Ile)
c.1118A>T (p.Lys373Ile)
7g.70777105A>CCA367669713AUTS2c.1863A>C (p.Lys621Asn)
c.1935A>C (p.Lys645Asn)
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)
n.33A>C
n.515A>C
n.601A>C
n.432A>C
n.303A>C
c.1191A>C (p.Lys397Asn)
c.1119A>C (p.Lys373Asn)
7g.70777105A>GCA4280856AUTS2c.1863A>G (p.Lys621=)
c.1935A>G (p.Lys645=)
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=)
n.33A>G
n.515A>G
n.601A>G
n.432A>G
n.303A>G
c.1191A>G (p.Lys397=)
c.1119A>G (p.Lys373=)
dbSNP ExAC gnomAD
7g.70777105A>TCA367669714AUTS2c.1863A>T (p.Lys621Asn)
c.1935A>T (p.Lys645Asn)
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)
n.33A>T
n.515A>T
n.601A>T
n.432A>T
n.303A>T
c.1191A>T (p.Lys397Asn)
c.1119A>T (p.Lys373Asn)
7g.70777106C>ACA367669715AUTS2c.1864C>A (p.Pro622Thr)
c.1936C>A (p.Pro646Thr)
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)
n.34C>A
n.516C>A
n.602C>A
n.433C>A
n.304C>A
c.1192C>A (p.Pro398Thr)
c.1120C>A (p.Pro374Thr)
7g.70777106C>GCA367669716AUTS2c.1864C>G (p.Pro622Ala)
c.1936C>G (p.Pro646Ala)
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)
n.34C>G
n.516C>G
n.602C>G
n.433C>G
n.304C>G
c.1192C>G (p.Pro398Ala)
c.1120C>G (p.Pro374Ala)
7g.70777106C>TCA367669717AUTS2c.1864C>T (p.Pro622Ser)
c.1936C>T (p.Pro646Ser)
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)
n.34C>T
n.516C>T
n.602C>T
n.433C>T
n.304C>T
c.1192C>T (p.Pro398Ser)
c.1120C>T (p.Pro374Ser)
7g.70777107C>ACA367669720AUTS2c.1865C>A (p.Pro622Gln)
c.1937C>A (p.Pro646Gln)
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)
n.35C>A
n.517C>A
n.603C>A
n.434C>A
n.305C>A
c.1193C>A (p.Pro398Gln)
c.1121C>A (p.Pro374Gln)
7g.70777107C>GCA367669719AUTS2c.1865C>G (p.Pro622Arg)
c.1937C>G (p.Pro646Arg)
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)
n.35C>G
n.517C>G
n.603C>G
n.434C>G
n.305C>G
c.1193C>G (p.Pro398Arg)
c.1121C>G (p.Pro374Arg)
7g.70777107C>TCA367669718AUTS2c.1865C>T (p.Pro622Leu)
c.1937C>T (p.Pro646Leu)
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)
n.35C>T
n.517C>T
n.603C>T
n.434C>T
n.305C>T
c.1193C>T (p.Pro398Leu)
c.1121C>T (p.Pro374Leu)
7g.70777108A>CCA455803104AUTS2c.1866A>C (p.Pro622=)
c.1938A>C (p.Pro646=)
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=)
n.36A>C
n.518A>C
n.604A>C
n.435A>C
n.306A>C
c.1194A>C (p.Pro398=)
c.1122A>C (p.Pro374=)
7g.70777108A>GCA455803105AUTS2c.1866A>G (p.Pro622=)
c.1938A>G (p.Pro646=)
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=)
n.36A>G
n.518A>G
n.604A>G
n.435A>G
n.306A>G
c.1194A>G (p.Pro398=)
c.1122A>G (p.Pro374=)
7g.70777108A>TCA455803106AUTS2c.1866A>T (p.Pro622=)
c.1938A>T (p.Pro646=)
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=)
n.36A>T
n.518A>T
n.604A>T
n.435A>T
n.306A>T
c.1194A>T (p.Pro398=)
c.1122A>T (p.Pro374=)
7g.70777109G>ACA367669721AUTS2c.1867G>A (p.Gly623Arg)
c.1939G>A (p.Gly647Arg)
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)
n.37G>A
n.519G>A
n.605G>A
n.436G>A
n.307G>A
c.1195G>A (p.Gly399Arg)
c.1123G>A (p.Gly375Arg)
7g.70777109G>CCA367669722AUTS2c.1867G>C (p.Gly623Arg)
c.1939G>C (p.Gly647Arg)
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)
n.37G>C
n.519G>C
n.605G>C
n.436G>C
n.307G>C
c.1195G>C (p.Gly399Arg)
c.1123G>C (p.Gly375Arg)
7g.70777109G>TCA367669723AUTS2c.1867G>T (p.Gly623Trp)
c.1939G>T (p.Gly647Trp)
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)
n.37G>T
n.519G>T
n.605G>T
n.436G>T
n.307G>T
c.1195G>T (p.Gly399Trp)
c.1123G>T (p.Gly375Trp)
7g.70777110G>ACA367669724AUTS2c.1868G>A (p.Gly623Glu)
c.1940G>A (p.Gly647Glu)
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)
n.38G>A
n.520G>A
n.606G>A
n.437G>A
n.308G>A
c.1196G>A (p.Gly399Glu)
c.1124G>A (p.Gly375Glu)
gnomAD
7g.70777110G>CCA367669725AUTS2c.1868G>C (p.Gly623Ala)
c.1940G>C (p.Gly647Ala)
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)
n.38G>C
n.520G>C
n.606G>C
n.437G>C
n.308G>C
c.1196G>C (p.Gly399Ala)
c.1124G>C (p.Gly375Ala)
7g.70777110G>TCA367669726AUTS2c.1868G>T (p.Gly623Val)
c.1940G>T (p.Gly647Val)
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)
n.38G>T
n.520G>T
n.606G>T
n.437G>T
n.308G>T
c.1196G>T (p.Gly399Val)
c.1124G>T (p.Gly375Val)
7g.70777111G>ACA455803109AUTS2c.1869G>A (p.Gly623=)
c.1941G>A (p.Gly647=)
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=)
n.39G>A
n.521G>A
n.607G>A
n.438G>A
n.309G>A
c.1197G>A (p.Gly399=)
c.1125G>A (p.Gly375=)
7g.70777111G>CCA455803110AUTS2c.1869G>C (p.Gly623=)
c.1941G>C (p.Gly647=)
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=)
n.39G>C
n.521G>C
n.607G>C
n.438G>C
n.309G>C
c.1197G>C (p.Gly399=)
c.1125G>C (p.Gly375=)
7g.70777111G>TCA455803108AUTS2c.1869G>T (p.Gly623=)
c.1941G>T (p.Gly647=)
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=)
n.39G>T
n.521G>T
n.607G>T
n.438G>T
n.309G>T
c.1197G>T (p.Gly399=)
c.1125G>T (p.Gly375=)
7g.70777112A>CCA367669727AUTS2c.1870A>C (p.Lys624Gln)
c.1942A>C (p.Lys648Gln)
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)
n.40A>C
n.522A>C
n.608A>C
n.439A>C
n.310A>C
c.1198A>C (p.Lys400Gln)
c.1126A>C (p.Lys376Gln)
7g.70777112A>GCA367669729AUTS2c.1870A>G (p.Lys624Glu)
c.1942A>G (p.Lys648Glu)
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)
n.40A>G
n.522A>G
n.608A>G
n.439A>G
n.310A>G
c.1198A>G (p.Lys400Glu)
c.1126A>G (p.Lys376Glu)
7g.70777112A>TCA367669728AUTS2c.1870A>T (p.Lys624Ter)
c.1942A>T (p.Lys648Ter)
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)
n.40A>T
n.522A>T
n.608A>T
n.439A>T
n.310A>T
c.1198A>T (p.Lys400Ter)
c.1126A>T (p.Lys376Ter)

Number of alleles fetched