Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.70777067_70777070dupCA2578902340AUTS2c.1933-36_1933-33dup (n.1933-36_1933-33dup)
c.31-36_31-33dup (n.31-36_31-33dup)
c.268-36_268-33dup (n.268-36_268-33dup)
c.26-36_26-33dup
n.601-36_601-33dup
c.514-36_514-33dup (n.514-36_514-33dup)
c.559-36_559-33dup (n.559-36_559-33dup)
c.1930-36_1930-33dup (n.1930-36_1930-33dup)
c.264-36_264-33dup
n.244-36_244-33dup
c.798-36_798-33dup
c.1861-36_1861-33dup (n.1861-36_1861-33dup)
c.31-36_31-33dup
c.513-36_513-33dup
n.599-36_599-33dup
n.394_397dup
n.301-36_301-33dup
c.1189-36_1189-33dup (n.1189-36_1189-33dup)
c.1117-36_1117-33dup (n.1117-36_1117-33dup)
c.580-36_580-33dup (n.580-36_580-33dup)
c.1954-36_1954-33dup (n.1954-36_1954-33dup)
c.1951-36_1951-33dup (n.1951-36_1951-33dup)
c.1888-36_1888-33dup (n.1888-36_1888-33dup)
c.1882-36_1882-33dup (n.1882-36_1882-33dup)
c.1852-36_1852-33dup (n.1852-36_1852-33dup)
c.1690-36_1690-33dup (n.1690-36_1690-33dup)
c.1663-36_1663-33dup (n.1663-36_1663-33dup)
c.1480-36_1480-33dup (n.1480-36_1480-33dup)
c.1453-36_1453-33dup (n.1453-36_1453-33dup)
 gnomAD v4
7g.70777068C>ACA2683162336AUTS2c.1933-35C>A (n.1933-35C>A)
c.31-35C>A (n.31-35C>A)
c.268-35C>A (n.268-35C>A)
c.26-35C>A
n.601-35C>A
c.514-35C>A (n.514-35C>A)
c.559-35C>A (n.559-35C>A)
c.1930-35C>A (n.1930-35C>A)
c.264-35C>A
n.244-35C>A
c.798-35C>A
c.1861-35C>A (n.1861-35C>A)
c.31-35C>A
c.513-35C>A
n.599-35C>A
n.395C>A
n.301-35C>A
c.1189-35C>A (n.1189-35C>A)
c.1117-35C>A (n.1117-35C>A)
c.580-35C>A (n.580-35C>A)
c.1954-35C>A (n.1954-35C>A)
c.1951-35C>A (n.1951-35C>A)
c.1888-35C>A (n.1888-35C>A)
c.1882-35C>A (n.1882-35C>A)
c.1852-35C>A (n.1852-35C>A)
c.1690-35C>A (n.1690-35C>A)
c.1663-35C>A (n.1663-35C>A)
c.1480-35C>A (n.1480-35C>A)
c.1453-35C>A (n.1453-35C>A)
 gnomAD v4
7g.70777068C>TCA2683162337AUTS2c.1933-35C>T (n.1933-35C>T)
c.31-35C>T (n.31-35C>T)
c.268-35C>T (n.268-35C>T)
c.26-35C>T
n.601-35C>T
c.514-35C>T (n.514-35C>T)
c.559-35C>T (n.559-35C>T)
c.1930-35C>T (n.1930-35C>T)
c.264-35C>T
n.244-35C>T
c.798-35C>T
c.1861-35C>T (n.1861-35C>T)
c.31-35C>T
c.513-35C>T
n.599-35C>T
n.395C>T
n.301-35C>T
c.1189-35C>T (n.1189-35C>T)
c.1117-35C>T (n.1117-35C>T)
c.580-35C>T (n.580-35C>T)
c.1954-35C>T (n.1954-35C>T)
c.1951-35C>T (n.1951-35C>T)
c.1888-35C>T (n.1888-35C>T)
c.1882-35C>T (n.1882-35C>T)
c.1852-35C>T (n.1852-35C>T)
c.1690-35C>T (n.1690-35C>T)
c.1663-35C>T (n.1663-35C>T)
c.1480-35C>T (n.1480-35C>T)
c.1453-35C>T (n.1453-35C>T)
 gnomAD v4
7g.70777070_70777071delinsTCCA1716145347AUTS2c.1933-33_1933-32delinsTC (n.1933-33_1933-32delinsTC)
c.31-33_31-32delinsTC (n.31-33_31-32delinsTC)
c.268-33_268-32delinsTC (n.268-33_268-32delinsTC)
c.26-33_26-32delinsTC
n.601-33_601-32delinsTC
c.514-33_514-32delinsTC (n.514-33_514-32delinsTC)
c.559-33_559-32delinsTC (n.559-33_559-32delinsTC)
c.1930-33_1930-32delinsTC (n.1930-33_1930-32delinsTC)
c.264-33_264-32delinsTC
n.244-33_244-32delinsTC
c.798-33_798-32delinsTC
c.1861-33_1861-32delinsTC (n.1861-33_1861-32delinsTC)
c.31-33_31-32delinsTC
c.513-33_513-32delinsTC
n.599-33_599-32delinsTC
n.397_398delinsTC
n.301-33_301-32delinsTC
c.1189-33_1189-32delinsTC (n.1189-33_1189-32delinsTC)
c.1117-33_1117-32delinsTC (n.1117-33_1117-32delinsTC)
c.580-33_580-32delinsTC (n.580-33_580-32delinsTC)
c.1954-33_1954-32delinsTC (n.1954-33_1954-32delinsTC)
c.1951-33_1951-32delinsTC (n.1951-33_1951-32delinsTC)
c.1888-33_1888-32delinsTC (n.1888-33_1888-32delinsTC)
c.1882-33_1882-32delinsTC (n.1882-33_1882-32delinsTC)
c.1852-33_1852-32delinsTC (n.1852-33_1852-32delinsTC)
c.1690-33_1690-32delinsTC (n.1690-33_1690-32delinsTC)
c.1663-33_1663-32delinsTC (n.1663-33_1663-32delinsTC)
c.1480-33_1480-32delinsTC (n.1480-33_1480-32delinsTC)
c.1453-33_1453-32delinsTC (n.1453-33_1453-32delinsTC)
7g.70777071C=CA1716145350AUTS2c.1933-32C= (n.1933-32C=)
c.31-32C= (n.31-32C=)
c.268-32C= (n.268-32C=)
c.26-32C=
n.601-32C=
c.514-32C= (n.514-32C=)
c.559-32C= (n.559-32C=)
c.1930-32C= (n.1930-32C=)
c.264-32C=
n.244-32C=
c.798-32C=
c.1861-32C= (n.1861-32C=)
c.31-32C=
c.513-32C=
n.599-32C=
n.398C=
n.301-32C=
c.1189-32C= (n.1189-32C=)
c.1117-32C= (n.1117-32C=)
c.580-32C= (n.580-32C=)
c.1954-32C= (n.1954-32C=)
c.1951-32C= (n.1951-32C=)
c.1888-32C= (n.1888-32C=)
c.1882-32C= (n.1882-32C=)
c.1852-32C= (n.1852-32C=)
c.1690-32C= (n.1690-32C=)
c.1663-32C= (n.1663-32C=)
c.1480-32C= (n.1480-32C=)
c.1453-32C= (n.1453-32C=)
7g.70777071C>TCA575288429AUTS2c.1933-32C>T (n.1933-32C>T)
c.31-32C>T (n.31-32C>T)
c.268-32C>T (n.268-32C>T)
c.26-32C>T
n.601-32C>T
c.514-32C>T (n.514-32C>T)
c.559-32C>T (n.559-32C>T)
c.1930-32C>T (n.1930-32C>T)
c.264-32C>T
n.244-32C>T
c.798-32C>T
c.1861-32C>T (n.1861-32C>T)
c.31-32C>T
c.513-32C>T
n.599-32C>T
n.398C>T
n.301-32C>T
c.1189-32C>T (n.1189-32C>T)
c.1117-32C>T (n.1117-32C>T)
c.580-32C>T (n.580-32C>T)
c.1954-32C>T (n.1954-32C>T)
c.1951-32C>T (n.1951-32C>T)
c.1888-32C>T (n.1888-32C>T)
c.1882-32C>T (n.1882-32C>T)
c.1852-32C>T (n.1852-32C>T)
c.1690-32C>T (n.1690-32C>T)
c.1663-32C>T (n.1663-32C>T)
c.1480-32C>T (n.1480-32C>T)
c.1453-32C>T (n.1453-32C>T)
 dbSNP gnomAD v2
7g.70777072delCA575288428AUTS2c.1933-31del (n.1933-31del)
c.31-31del (n.31-31del)
c.268-31del (n.268-31del)
c.26-31del
n.601-31del
c.514-31del (n.514-31del)
c.559-31del (n.559-31del)
c.1930-31del (n.1930-31del)
c.264-31del
n.244-31del
c.798-31del
c.1861-31del (n.1861-31del)
c.31-31del
c.513-31del
n.599-31del
n.399del
n.301-31del
c.1189-31del (n.1189-31del)
c.1117-31del (n.1117-31del)
c.580-31del (n.580-31del)
c.1954-31del (n.1954-31del)
c.1951-31del (n.1951-31del)
c.1888-31del (n.1888-31del)
c.1882-31del (n.1882-31del)
c.1852-31del (n.1852-31del)
c.1690-31del (n.1690-31del)
c.1663-31del (n.1663-31del)
c.1480-31del (n.1480-31del)
c.1453-31del (n.1453-31del)
 dbSNP gnomAD v2 gnomAD v4
7g.70777072_70777075delCA2776369923AUTS2c.1933-31_1933-28del (n.1933-31_1933-28del)
c.31-31_31-28del (n.31-31_31-28del)
c.268-31_268-28del (n.268-31_268-28del)
c.26-31_26-28del
n.601-31_601-28del
c.514-31_514-28del (n.514-31_514-28del)
c.559-31_559-28del (n.559-31_559-28del)
c.1930-31_1930-28del (n.1930-31_1930-28del)
c.264-31_264-28del
n.244-31_244-28del
c.798-31_798-28del
c.1861-31_1861-28del (n.1861-31_1861-28del)
c.31-31_31-28del
c.513-31_513-28del
n.599-31_599-28del
n.399_402del
n.301-31_301-28del
c.1189-31_1189-28del (n.1189-31_1189-28del)
c.1117-31_1117-28del (n.1117-31_1117-28del)
c.580-31_580-28del (n.580-31_580-28del)
c.1954-31_1954-28del (n.1954-31_1954-28del)
c.1951-31_1951-28del (n.1951-31_1951-28del)
c.1888-31_1888-28del (n.1888-31_1888-28del)
c.1882-31_1882-28del (n.1882-31_1882-28del)
c.1852-31_1852-28del (n.1852-31_1852-28del)
c.1690-31_1690-28del (n.1690-31_1690-28del)
c.1663-31_1663-28del (n.1663-31_1663-28del)
c.1480-31_1480-28del (n.1480-31_1480-28del)
c.1453-31_1453-28del (n.1453-31_1453-28del)
7g.70777072C>ACA2578902341AUTS2c.1933-31C>A (n.1933-31C>A)
c.31-31C>A (n.31-31C>A)
c.268-31C>A (n.268-31C>A)
c.26-31C>A
n.601-31C>A
c.514-31C>A (n.514-31C>A)
c.559-31C>A (n.559-31C>A)
c.1930-31C>A (n.1930-31C>A)
c.264-31C>A
n.244-31C>A
c.798-31C>A
c.1861-31C>A (n.1861-31C>A)
c.31-31C>A
c.513-31C>A
n.599-31C>A
n.399C>A
n.301-31C>A
c.1189-31C>A (n.1189-31C>A)
c.1117-31C>A (n.1117-31C>A)
c.580-31C>A (n.580-31C>A)
c.1954-31C>A (n.1954-31C>A)
c.1951-31C>A (n.1951-31C>A)
c.1888-31C>A (n.1888-31C>A)
c.1882-31C>A (n.1882-31C>A)
c.1852-31C>A (n.1852-31C>A)
c.1690-31C>A (n.1690-31C>A)
c.1663-31C>A (n.1663-31C>A)
c.1480-31C>A (n.1480-31C>A)
c.1453-31C>A (n.1453-31C>A)
 gnomAD v4
7g.70777072C>TCA2683162345AUTS2c.1933-31C>T (n.1933-31C>T)
c.31-31C>T (n.31-31C>T)
c.268-31C>T (n.268-31C>T)
c.26-31C>T
n.601-31C>T
c.514-31C>T (n.514-31C>T)
c.559-31C>T (n.559-31C>T)
c.1930-31C>T (n.1930-31C>T)
c.264-31C>T
n.244-31C>T
c.798-31C>T
c.1861-31C>T (n.1861-31C>T)
c.31-31C>T
c.513-31C>T
n.599-31C>T
n.399C>T
n.301-31C>T
c.1189-31C>T (n.1189-31C>T)
c.1117-31C>T (n.1117-31C>T)
c.580-31C>T (n.580-31C>T)
c.1954-31C>T (n.1954-31C>T)
c.1951-31C>T (n.1951-31C>T)
c.1888-31C>T (n.1888-31C>T)
c.1882-31C>T (n.1882-31C>T)
c.1852-31C>T (n.1852-31C>T)
c.1690-31C>T (n.1690-31C>T)
c.1663-31C>T (n.1663-31C>T)
c.1480-31C>T (n.1480-31C>T)
c.1453-31C>T (n.1453-31C>T)
 gnomAD v4
7g.70777073T>CCA2683162346AUTS2c.1933-30T>C (n.1933-30T>C)
c.31-30T>C (n.31-30T>C)
c.268-30T>C (n.268-30T>C)
c.26-30T>C
n.601-30T>C
c.514-30T>C (n.514-30T>C)
c.559-30T>C (n.559-30T>C)
c.1930-30T>C (n.1930-30T>C)
c.264-30T>C
n.244-30T>C
c.798-30T>C
c.1861-30T>C (n.1861-30T>C)
c.31-30T>C
c.513-30T>C
n.599-30T>C
n.400T>C
n.301-30T>C
c.1189-30T>C (n.1189-30T>C)
c.1117-30T>C (n.1117-30T>C)
c.580-30T>C (n.580-30T>C)
c.1954-30T>C (n.1954-30T>C)
c.1951-30T>C (n.1951-30T>C)
c.1888-30T>C (n.1888-30T>C)
c.1882-30T>C (n.1882-30T>C)
c.1852-30T>C (n.1852-30T>C)
c.1690-30T>C (n.1690-30T>C)
c.1663-30T>C (n.1663-30T>C)
c.1480-30T>C (n.1480-30T>C)
c.1453-30T>C (n.1453-30T>C)
 gnomAD v4
7g.70777074C>TCA2578902342AUTS2c.1933-29C>T (n.1933-29C>T)
c.31-29C>T (n.31-29C>T)
c.268-29C>T (n.268-29C>T)
c.26-29C>T
n.601-29C>T
c.514-29C>T (n.514-29C>T)
c.559-29C>T (n.559-29C>T)
c.1930-29C>T (n.1930-29C>T)
c.264-29C>T
n.244-29C>T
c.798-29C>T
c.1861-29C>T (n.1861-29C>T)
c.31-29C>T
c.513-29C>T
n.599-29C>T
n.401C>T
n.301-29C>T
c.1189-29C>T (n.1189-29C>T)
c.1117-29C>T (n.1117-29C>T)
c.580-29C>T (n.580-29C>T)
c.1954-29C>T (n.1954-29C>T)
c.1951-29C>T (n.1951-29C>T)
c.1888-29C>T (n.1888-29C>T)
c.1882-29C>T (n.1882-29C>T)
c.1852-29C>T (n.1852-29C>T)
c.1690-29C>T (n.1690-29C>T)
c.1663-29C>T (n.1663-29C>T)
c.1480-29C>T (n.1480-29C>T)
c.1453-29C>T (n.1453-29C>T)
7g.70777075C=CA1716145351AUTS2c.1933-28C= (n.1933-28C=)
c.31-28C= (n.31-28C=)
c.268-28C= (n.268-28C=)
c.26-28C=
n.601-28C=
c.514-28C= (n.514-28C=)
c.559-28C= (n.559-28C=)
c.1930-28C= (n.1930-28C=)
c.264-28C=
n.244-28C=
c.798-28C=
c.1861-28C= (n.1861-28C=)
c.31-28C=
c.513-28C=
n.599-28C=
n.402C=
n.301-28C=
c.1189-28C= (n.1189-28C=)
c.1117-28C= (n.1117-28C=)
c.580-28C= (n.580-28C=)
c.1954-28C= (n.1954-28C=)
c.1951-28C= (n.1951-28C=)
c.1888-28C= (n.1888-28C=)
c.1882-28C= (n.1882-28C=)
c.1852-28C= (n.1852-28C=)
c.1690-28C= (n.1690-28C=)
c.1663-28C= (n.1663-28C=)
c.1480-28C= (n.1480-28C=)
c.1453-28C= (n.1453-28C=)
7g.70777075C>TCA1716145352AUTS2c.1933-28C>T (n.1933-28C>T)
c.31-28C>T (n.31-28C>T)
c.268-28C>T (n.268-28C>T)
c.26-28C>T
n.601-28C>T
c.514-28C>T (n.514-28C>T)
c.559-28C>T (n.559-28C>T)
c.1930-28C>T (n.1930-28C>T)
c.264-28C>T
n.244-28C>T
c.798-28C>T
c.1861-28C>T (n.1861-28C>T)
c.31-28C>T
c.513-28C>T
n.599-28C>T
n.402C>T
n.301-28C>T
c.1189-28C>T (n.1189-28C>T)
c.1117-28C>T (n.1117-28C>T)
c.580-28C>T (n.580-28C>T)
c.1954-28C>T (n.1954-28C>T)
c.1951-28C>T (n.1951-28C>T)
c.1888-28C>T (n.1888-28C>T)
c.1882-28C>T (n.1882-28C>T)
c.1852-28C>T (n.1852-28C>T)
c.1690-28C>T (n.1690-28C>T)
c.1663-28C>T (n.1663-28C>T)
c.1480-28C>T (n.1480-28C>T)
c.1453-28C>T (n.1453-28C>T)
 dbSNP
7g.70777076T>ACA2683162348AUTS2c.1933-27T>A (n.1933-27T>A)
c.31-27T>A (n.31-27T>A)
c.268-27T>A (n.268-27T>A)
c.26-27T>A
n.601-27T>A
c.514-27T>A (n.514-27T>A)
c.559-27T>A (n.559-27T>A)
c.1930-27T>A (n.1930-27T>A)
c.264-27T>A
n.244-27T>A
c.798-27T>A
c.1861-27T>A (n.1861-27T>A)
c.31-27T>A
c.513-27T>A
n.599-27T>A
n.403T>A
n.301-27T>A
c.1189-27T>A (n.1189-27T>A)
c.1117-27T>A (n.1117-27T>A)
c.580-27T>A (n.580-27T>A)
c.1954-27T>A (n.1954-27T>A)
c.1951-27T>A (n.1951-27T>A)
c.1888-27T>A (n.1888-27T>A)
c.1882-27T>A (n.1882-27T>A)
c.1852-27T>A (n.1852-27T>A)
c.1690-27T>A (n.1690-27T>A)
c.1663-27T>A (n.1663-27T>A)
c.1480-27T>A (n.1480-27T>A)
c.1453-27T>A (n.1453-27T>A)
 gnomAD v4
7g.70777076T>CCA2683162349AUTS2c.1933-27T>C (n.1933-27T>C)
c.31-27T>C (n.31-27T>C)
c.268-27T>C (n.268-27T>C)
c.26-27T>C
n.601-27T>C
c.514-27T>C (n.514-27T>C)
c.559-27T>C (n.559-27T>C)
c.1930-27T>C (n.1930-27T>C)
c.264-27T>C
n.244-27T>C
c.798-27T>C
c.1861-27T>C (n.1861-27T>C)
c.31-27T>C
c.513-27T>C
n.599-27T>C
n.403T>C
n.301-27T>C
c.1189-27T>C (n.1189-27T>C)
c.1117-27T>C (n.1117-27T>C)
c.580-27T>C (n.580-27T>C)
c.1954-27T>C (n.1954-27T>C)
c.1951-27T>C (n.1951-27T>C)
c.1888-27T>C (n.1888-27T>C)
c.1882-27T>C (n.1882-27T>C)
c.1852-27T>C (n.1852-27T>C)
c.1690-27T>C (n.1690-27T>C)
c.1663-27T>C (n.1663-27T>C)
c.1480-27T>C (n.1480-27T>C)
c.1453-27T>C (n.1453-27T>C)
 gnomAD v4
7g.70777077A>CCA2578902343AUTS2c.1933-26A>C (n.1933-26A>C)
c.31-26A>C (n.31-26A>C)
c.268-26A>C (n.268-26A>C)
c.26-26A>C
n.601-26A>C
c.514-26A>C (n.514-26A>C)
c.559-26A>C (n.559-26A>C)
c.1930-26A>C (n.1930-26A>C)
c.264-26A>C
n.244-26A>C
c.798-26A>C
c.1861-26A>C (n.1861-26A>C)
c.31-26A>C
c.513-26A>C
n.599-26A>C
n.404A>C
n.301-26A>C
c.1189-26A>C (n.1189-26A>C)
c.1117-26A>C (n.1117-26A>C)
c.580-26A>C (n.580-26A>C)
c.1954-26A>C (n.1954-26A>C)
c.1951-26A>C (n.1951-26A>C)
c.1888-26A>C (n.1888-26A>C)
c.1882-26A>C (n.1882-26A>C)
c.1852-26A>C (n.1852-26A>C)
c.1690-26A>C (n.1690-26A>C)
c.1663-26A>C (n.1663-26A>C)
c.1480-26A>C (n.1480-26A>C)
c.1453-26A>C (n.1453-26A>C)
 gnomAD v4
7g.70777079C>TCA2714971758AUTS2c.1933-24C>T (n.1933-24C>T)
c.31-24C>T (n.31-24C>T)
c.268-24C>T (n.268-24C>T)
c.26-24C>T
n.601-24C>T
c.514-24C>T (n.514-24C>T)
c.559-24C>T (n.559-24C>T)
c.1930-24C>T (n.1930-24C>T)
c.264-24C>T
n.244-24C>T
c.798-24C>T
c.1861-24C>T (n.1861-24C>T)
c.31-24C>T
c.513-24C>T
n.599-24C>T
n.406C>T
n.301-24C>T
c.1189-24C>T (n.1189-24C>T)
c.1117-24C>T (n.1117-24C>T)
c.580-24C>T (n.580-24C>T)
c.1954-24C>T (n.1954-24C>T)
c.1951-24C>T (n.1951-24C>T)
c.1888-24C>T (n.1888-24C>T)
c.1882-24C>T (n.1882-24C>T)
c.1852-24C>T (n.1852-24C>T)
c.1690-24C>T (n.1690-24C>T)
c.1663-24C>T (n.1663-24C>T)
c.1480-24C>T (n.1480-24C>T)
c.1453-24C>T (n.1453-24C>T)
 dbSNP
7g.70777081A=CA1716145353AUTS2c.1933-22A= (n.1933-22A=)
c.31-22A= (n.31-22A=)
c.268-22A= (n.268-22A=)
c.26-22A=
n.601-22A=
c.514-22A= (n.514-22A=)
c.559-22A= (n.559-22A=)
c.1930-22A= (n.1930-22A=)
c.264-22A=
n.244-22A=
c.798-22A=
c.1861-22A= (n.1861-22A=)
c.31-22A=
c.513-22A=
n.599-22A=
n.408A=
n.301-22A=
c.1189-22A= (n.1189-22A=)
c.1117-22A= (n.1117-22A=)
c.580-22A= (n.580-22A=)
c.1954-22A= (n.1954-22A=)
c.1951-22A= (n.1951-22A=)
c.1888-22A= (n.1888-22A=)
c.1882-22A= (n.1882-22A=)
c.1852-22A= (n.1852-22A=)
c.1690-22A= (n.1690-22A=)
c.1663-22A= (n.1663-22A=)
c.1480-22A= (n.1480-22A=)
c.1453-22A= (n.1453-22A=)
7g.70777081A>GCA4280851AUTS2c.1933-22A>G (n.1933-22A>G)
c.31-22A>G (n.31-22A>G)
c.268-22A>G (n.268-22A>G)
c.26-22A>G
n.601-22A>G
c.514-22A>G (n.514-22A>G)
c.559-22A>G (n.559-22A>G)
c.1930-22A>G (n.1930-22A>G)
c.264-22A>G
n.244-22A>G
c.798-22A>G
c.1861-22A>G (n.1861-22A>G)
c.31-22A>G
c.513-22A>G
n.599-22A>G
n.408A>G
n.301-22A>G
c.1189-22A>G (n.1189-22A>G)
c.1117-22A>G (n.1117-22A>G)
c.580-22A>G (n.580-22A>G)
c.1954-22A>G (n.1954-22A>G)
c.1951-22A>G (n.1951-22A>G)
c.1888-22A>G (n.1888-22A>G)
c.1882-22A>G (n.1882-22A>G)
c.1852-22A>G (n.1852-22A>G)
c.1690-22A>G (n.1690-22A>G)
c.1663-22A>G (n.1663-22A>G)
c.1480-22A>G (n.1480-22A>G)
c.1453-22A>G (n.1453-22A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.70777082C=CA1716145356AUTS2c.1933-21C= (n.1933-21C=)
c.31-21C= (n.31-21C=)
c.268-21C= (n.268-21C=)
c.26-21C=
n.601-21C=
c.514-21C= (n.514-21C=)
c.559-21C= (n.559-21C=)
c.1930-21C= (n.1930-21C=)
c.264-21C=
n.244-21C=
c.798-21C=
c.1861-21C= (n.1861-21C=)
c.31-21C=
c.513-21C=
n.599-21C=
n.409C=
n.301-21C=
c.1189-21C= (n.1189-21C=)
c.1117-21C= (n.1117-21C=)
c.580-21C= (n.580-21C=)
c.1954-21C= (n.1954-21C=)
c.1951-21C= (n.1951-21C=)
c.1888-21C= (n.1888-21C=)
c.1882-21C= (n.1882-21C=)
c.1852-21C= (n.1852-21C=)
c.1690-21C= (n.1690-21C=)
c.1663-21C= (n.1663-21C=)
c.1480-21C= (n.1480-21C=)
c.1453-21C= (n.1453-21C=)
7g.70777082C>TCA4280852AUTS2c.1933-21C>T (n.1933-21C>T)
c.31-21C>T (n.31-21C>T)
c.268-21C>T (n.268-21C>T)
c.26-21C>T
n.601-21C>T
c.514-21C>T (n.514-21C>T)
c.559-21C>T (n.559-21C>T)
c.1930-21C>T (n.1930-21C>T)
c.264-21C>T
n.244-21C>T
c.798-21C>T
c.1861-21C>T (n.1861-21C>T)
c.31-21C>T
c.513-21C>T
n.599-21C>T
n.409C>T
n.301-21C>T
c.1189-21C>T (n.1189-21C>T)
c.1117-21C>T (n.1117-21C>T)
c.580-21C>T (n.580-21C>T)
c.1954-21C>T (n.1954-21C>T)
c.1951-21C>T (n.1951-21C>T)
c.1888-21C>T (n.1888-21C>T)
c.1882-21C>T (n.1882-21C>T)
c.1852-21C>T (n.1852-21C>T)
c.1690-21C>T (n.1690-21C>T)
c.1663-21C>T (n.1663-21C>T)
c.1480-21C>T (n.1480-21C>T)
c.1453-21C>T (n.1453-21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.70777083G>ACA4280853AUTS2c.1933-20G>A (n.1933-20G>A)
c.31-20G>A (n.31-20G>A)
c.268-20G>A (n.268-20G>A)
c.26-20G>A
n.601-20G>A
c.514-20G>A (n.514-20G>A)
c.559-20G>A (n.559-20G>A)
c.1930-20G>A (n.1930-20G>A)
c.264-20G>A
n.244-20G>A
c.798-20G>A
c.1861-20G>A (n.1861-20G>A)
c.31-20G>A
c.513-20G>A
n.599-20G>A
n.410G>A
n.301-20G>A
c.1189-20G>A (n.1189-20G>A)
c.1117-20G>A (n.1117-20G>A)
c.580-20G>A (n.580-20G>A)
c.1954-20G>A (n.1954-20G>A)
c.1951-20G>A (n.1951-20G>A)
c.1888-20G>A (n.1888-20G>A)
c.1882-20G>A (n.1882-20G>A)
c.1852-20G>A (n.1852-20G>A)
c.1690-20G>A (n.1690-20G>A)
c.1663-20G>A (n.1663-20G>A)
c.1480-20G>A (n.1480-20G>A)
c.1453-20G>A (n.1453-20G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.70777083G=CA1716145361AUTS2c.1933-20G= (n.1933-20G=)
c.31-20G= (n.31-20G=)
c.268-20G= (n.268-20G=)
c.26-20G=
n.601-20G=
c.514-20G= (n.514-20G=)
c.559-20G= (n.559-20G=)
c.1930-20G= (n.1930-20G=)
c.264-20G=
n.244-20G=
c.798-20G=
c.1861-20G= (n.1861-20G=)
c.31-20G=
c.513-20G=
n.599-20G=
n.410G=
n.301-20G=
c.1189-20G= (n.1189-20G=)
c.1117-20G= (n.1117-20G=)
c.580-20G= (n.580-20G=)
c.1954-20G= (n.1954-20G=)
c.1951-20G= (n.1951-20G=)
c.1888-20G= (n.1888-20G=)
c.1882-20G= (n.1882-20G=)
c.1852-20G= (n.1852-20G=)
c.1690-20G= (n.1690-20G=)
c.1663-20G= (n.1663-20G=)
c.1480-20G= (n.1480-20G=)
c.1453-20G= (n.1453-20G=)
7g.70777086G>ACA1716145366AUTS2c.1933-17G>A (n.1933-17G>A)
c.31-17G>A (n.31-17G>A)
c.268-17G>A (n.268-17G>A)
c.26-17G>A
n.601-17G>A
c.514-17G>A (n.514-17G>A)
c.559-17G>A (n.559-17G>A)
c.1930-17G>A (n.1930-17G>A)
c.264-17G>A
n.244-17G>A
c.798-17G>A
c.1861-17G>A (n.1861-17G>A)
c.31-17G>A
c.513-17G>A
n.599-17G>A
n.413G>A
n.301-17G>A
c.1189-17G>A (n.1189-17G>A)
c.1117-17G>A (n.1117-17G>A)
c.580-17G>A (n.580-17G>A)
c.1954-17G>A (n.1954-17G>A)
c.1951-17G>A (n.1951-17G>A)
c.1888-17G>A (n.1888-17G>A)
c.1882-17G>A (n.1882-17G>A)
c.1852-17G>A (n.1852-17G>A)
c.1690-17G>A (n.1690-17G>A)
c.1663-17G>A (n.1663-17G>A)
c.1480-17G>A (n.1480-17G>A)
c.1453-17G>A (n.1453-17G>A)
 dbSNP gnomAD v4
7g.70777086G=CA1716145364AUTS2c.1933-17G= (n.1933-17G=)
c.31-17G= (n.31-17G=)
c.268-17G= (n.268-17G=)
c.26-17G=
n.601-17G=
c.514-17G= (n.514-17G=)
c.559-17G= (n.559-17G=)
c.1930-17G= (n.1930-17G=)
c.264-17G=
n.244-17G=
c.798-17G=
c.1861-17G= (n.1861-17G=)
c.31-17G=
c.513-17G=
n.599-17G=
n.413G=
n.301-17G=
c.1189-17G= (n.1189-17G=)
c.1117-17G= (n.1117-17G=)
c.580-17G= (n.580-17G=)
c.1954-17G= (n.1954-17G=)
c.1951-17G= (n.1951-17G=)
c.1888-17G= (n.1888-17G=)
c.1882-17G= (n.1882-17G=)
c.1852-17G= (n.1852-17G=)
c.1690-17G= (n.1690-17G=)
c.1663-17G= (n.1663-17G=)
c.1480-17G= (n.1480-17G=)
c.1453-17G= (n.1453-17G=)
7g.70777087C>ACA1716145370AUTS2c.1933-16C>A (n.1933-16C>A)
c.31-16C>A (n.31-16C>A)
c.268-16C>A (n.268-16C>A)
c.26-16C>A
n.601-16C>A
c.514-16C>A (n.514-16C>A)
c.559-16C>A (n.559-16C>A)
c.1930-16C>A (n.1930-16C>A)
c.264-16C>A
n.244-16C>A
c.798-16C>A
c.1861-16C>A (n.1861-16C>A)
c.31-16C>A
c.513-16C>A
n.599-16C>A
n.414C>A
n.301-16C>A
c.1189-16C>A (n.1189-16C>A)
c.1117-16C>A (n.1117-16C>A)
c.580-16C>A (n.580-16C>A)
c.1954-16C>A (n.1954-16C>A)
c.1951-16C>A (n.1951-16C>A)
c.1888-16C>A (n.1888-16C>A)
c.1882-16C>A (n.1882-16C>A)
c.1852-16C>A (n.1852-16C>A)
c.1690-16C>A (n.1690-16C>A)
c.1663-16C>A (n.1663-16C>A)
c.1480-16C>A (n.1480-16C>A)
c.1453-16C>A (n.1453-16C>A)
 dbSNP gnomAD v4
7g.70777087C=CA1716145368AUTS2c.1933-16C= (n.1933-16C=)
c.31-16C= (n.31-16C=)
c.268-16C= (n.268-16C=)
c.26-16C=
n.601-16C=
c.514-16C= (n.514-16C=)
c.559-16C= (n.559-16C=)
c.1930-16C= (n.1930-16C=)
c.264-16C=
n.244-16C=
c.798-16C=
c.1861-16C= (n.1861-16C=)
c.31-16C=
c.513-16C=
n.599-16C=
n.414C=
n.301-16C=
c.1189-16C= (n.1189-16C=)
c.1117-16C= (n.1117-16C=)
c.580-16C= (n.580-16C=)
c.1954-16C= (n.1954-16C=)
c.1951-16C= (n.1951-16C=)
c.1888-16C= (n.1888-16C=)
c.1882-16C= (n.1882-16C=)
c.1852-16C= (n.1852-16C=)
c.1690-16C= (n.1690-16C=)
c.1663-16C= (n.1663-16C=)
c.1480-16C= (n.1480-16C=)
c.1453-16C= (n.1453-16C=)
7g.70777087C>GCA1716145374AUTS2c.1933-16C>G (n.1933-16C>G)
c.31-16C>G (n.31-16C>G)
c.268-16C>G (n.268-16C>G)
c.26-16C>G
n.601-16C>G
c.514-16C>G (n.514-16C>G)
c.559-16C>G (n.559-16C>G)
c.1930-16C>G (n.1930-16C>G)
c.264-16C>G
n.244-16C>G
c.798-16C>G
c.1861-16C>G (n.1861-16C>G)
c.31-16C>G
c.513-16C>G
n.599-16C>G
n.414C>G
n.301-16C>G
c.1189-16C>G (n.1189-16C>G)
c.1117-16C>G (n.1117-16C>G)
c.580-16C>G (n.580-16C>G)
c.1954-16C>G (n.1954-16C>G)
c.1951-16C>G (n.1951-16C>G)
c.1888-16C>G (n.1888-16C>G)
c.1882-16C>G (n.1882-16C>G)
c.1852-16C>G (n.1852-16C>G)
c.1690-16C>G (n.1690-16C>G)
c.1663-16C>G (n.1663-16C>G)
c.1480-16C>G (n.1480-16C>G)
c.1453-16C>G (n.1453-16C>G)
 dbSNP
7g.70777087C>TCA2683162360AUTS2c.1933-16C>T (n.1933-16C>T)
c.31-16C>T (n.31-16C>T)
c.268-16C>T (n.268-16C>T)
c.26-16C>T
n.601-16C>T
c.514-16C>T (n.514-16C>T)
c.559-16C>T (n.559-16C>T)
c.1930-16C>T (n.1930-16C>T)
c.264-16C>T
n.244-16C>T
c.798-16C>T
c.1861-16C>T (n.1861-16C>T)
c.31-16C>T
c.513-16C>T
n.599-16C>T
n.414C>T
n.301-16C>T
c.1189-16C>T (n.1189-16C>T)
c.1117-16C>T (n.1117-16C>T)
c.580-16C>T (n.580-16C>T)
c.1954-16C>T (n.1954-16C>T)
c.1951-16C>T (n.1951-16C>T)
c.1888-16C>T (n.1888-16C>T)
c.1882-16C>T (n.1882-16C>T)
c.1852-16C>T (n.1852-16C>T)
c.1690-16C>T (n.1690-16C>T)
c.1663-16C>T (n.1663-16C>T)
c.1480-16C>T (n.1480-16C>T)
c.1453-16C>T (n.1453-16C>T)
 gnomAD v4
7g.70777088T>ACA2578902344AUTS2c.1933-15T>A (n.1933-15T>A)
c.31-15T>A (n.31-15T>A)
c.268-15T>A (n.268-15T>A)
c.26-15T>A
n.601-15T>A
c.514-15T>A (n.514-15T>A)
c.559-15T>A (n.559-15T>A)
c.1930-15T>A (n.1930-15T>A)
c.264-15T>A
n.244-15T>A
c.798-15T>A
c.1861-15T>A (n.1861-15T>A)
c.31-15T>A
c.513-15T>A
n.599-15T>A
n.415T>A
n.301-15T>A
c.1189-15T>A (n.1189-15T>A)
c.1117-15T>A (n.1117-15T>A)
c.580-15T>A (n.580-15T>A)
c.1954-15T>A (n.1954-15T>A)
c.1951-15T>A (n.1951-15T>A)
c.1888-15T>A (n.1888-15T>A)
c.1882-15T>A (n.1882-15T>A)
c.1852-15T>A (n.1852-15T>A)
c.1690-15T>A (n.1690-15T>A)
c.1663-15T>A (n.1663-15T>A)
c.1480-15T>A (n.1480-15T>A)
c.1453-15T>A (n.1453-15T>A)
7g.70777089C=CA1716145376AUTS2c.1933-14C= (n.1933-14C=)
c.31-14C= (n.31-14C=)
c.268-14C= (n.268-14C=)
c.26-14C=
n.601-14C=
c.514-14C= (n.514-14C=)
c.559-14C= (n.559-14C=)
c.1930-14C= (n.1930-14C=)
c.264-14C=
n.244-14C=
c.798-14C=
c.1861-14C= (n.1861-14C=)
c.31-14C=
c.513-14C=
n.599-14C=
n.416C=
n.301-14C=
c.1189-14C= (n.1189-14C=)
c.1117-14C= (n.1117-14C=)
c.580-14C= (n.580-14C=)
c.1954-14C= (n.1954-14C=)
c.1951-14C= (n.1951-14C=)
c.1888-14C= (n.1888-14C=)
c.1882-14C= (n.1882-14C=)
c.1852-14C= (n.1852-14C=)
c.1690-14C= (n.1690-14C=)
c.1663-14C= (n.1663-14C=)
c.1480-14C= (n.1480-14C=)
c.1453-14C= (n.1453-14C=)
7g.70777089C>GCA4280854AUTS2c.1933-14C>G (n.1933-14C>G)
c.31-14C>G (n.31-14C>G)
c.268-14C>G (n.268-14C>G)
c.26-14C>G
n.601-14C>G
c.514-14C>G (n.514-14C>G)
c.559-14C>G (n.559-14C>G)
c.1930-14C>G (n.1930-14C>G)
c.264-14C>G
n.244-14C>G
c.798-14C>G
c.1861-14C>G (n.1861-14C>G)
c.31-14C>G
c.513-14C>G
n.599-14C>G
n.416C>G
n.301-14C>G
c.1189-14C>G (n.1189-14C>G)
c.1117-14C>G (n.1117-14C>G)
c.580-14C>G (n.580-14C>G)
c.1954-14C>G (n.1954-14C>G)
c.1951-14C>G (n.1951-14C>G)
c.1888-14C>G (n.1888-14C>G)
c.1882-14C>G (n.1882-14C>G)
c.1852-14C>G (n.1852-14C>G)
c.1690-14C>G (n.1690-14C>G)
c.1663-14C>G (n.1663-14C>G)
c.1480-14C>G (n.1480-14C>G)
c.1453-14C>G (n.1453-14C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.70777089C>TCA2683162364AUTS2c.1933-14C>T (n.1933-14C>T)
c.31-14C>T (n.31-14C>T)
c.268-14C>T (n.268-14C>T)
c.26-14C>T
n.601-14C>T
c.514-14C>T (n.514-14C>T)
c.559-14C>T (n.559-14C>T)
c.1930-14C>T (n.1930-14C>T)
c.264-14C>T
n.244-14C>T
c.798-14C>T
c.1861-14C>T (n.1861-14C>T)
c.31-14C>T
c.513-14C>T
n.599-14C>T
n.416C>T
n.301-14C>T
c.1189-14C>T (n.1189-14C>T)
c.1117-14C>T (n.1117-14C>T)
c.580-14C>T (n.580-14C>T)
c.1954-14C>T (n.1954-14C>T)
c.1951-14C>T (n.1951-14C>T)
c.1888-14C>T (n.1888-14C>T)
c.1882-14C>T (n.1882-14C>T)
c.1852-14C>T (n.1852-14C>T)
c.1690-14C>T (n.1690-14C>T)
c.1663-14C>T (n.1663-14C>T)
c.1480-14C>T (n.1480-14C>T)
c.1453-14C>T (n.1453-14C>T)
 gnomAD v4
7g.70777090T>CCA2578902345AUTS2c.1933-13T>C (n.1933-13T>C)
c.31-13T>C (n.31-13T>C)
c.268-13T>C (n.268-13T>C)
c.26-13T>C
n.601-13T>C
c.514-13T>C (n.514-13T>C)
c.559-13T>C (n.559-13T>C)
c.1930-13T>C (n.1930-13T>C)
c.264-13T>C
n.244-13T>C
c.798-13T>C
c.1861-13T>C (n.1861-13T>C)
c.31-13T>C
c.513-13T>C
n.599-13T>C
n.417T>C
n.301-13T>C
c.1189-13T>C (n.1189-13T>C)
c.1117-13T>C (n.1117-13T>C)
c.580-13T>C (n.580-13T>C)
c.1954-13T>C (n.1954-13T>C)
c.1951-13T>C (n.1951-13T>C)
c.1888-13T>C (n.1888-13T>C)
c.1882-13T>C (n.1882-13T>C)
c.1852-13T>C (n.1852-13T>C)
c.1690-13T>C (n.1690-13T>C)
c.1663-13T>C (n.1663-13T>C)
c.1480-13T>C (n.1480-13T>C)
c.1453-13T>C (n.1453-13T>C)
7g.70777091T>GCA2683162368AUTS2c.1933-12T>G (n.1933-12T>G)
c.31-12T>G (n.31-12T>G)
c.268-12T>G (n.268-12T>G)
c.26-12T>G
n.601-12T>G
c.514-12T>G (n.514-12T>G)
c.559-12T>G (n.559-12T>G)
c.1930-12T>G (n.1930-12T>G)
c.264-12T>G
n.244-12T>G
c.798-12T>G
c.1861-12T>G (n.1861-12T>G)
c.31-12T>G
c.513-12T>G
n.599-12T>G
n.418T>G
n.301-12T>G
c.1189-12T>G (n.1189-12T>G)
c.1117-12T>G (n.1117-12T>G)
c.580-12T>G (n.580-12T>G)
c.1954-12T>G (n.1954-12T>G)
c.1951-12T>G (n.1951-12T>G)
c.1888-12T>G (n.1888-12T>G)
c.1882-12T>G (n.1882-12T>G)
c.1852-12T>G (n.1852-12T>G)
c.1690-12T>G (n.1690-12T>G)
c.1663-12T>G (n.1663-12T>G)
c.1480-12T>G (n.1480-12T>G)
c.1453-12T>G (n.1453-12T>G)
 gnomAD v4
7g.70777092T>CCA2683162371AUTS2c.1933-11T>C (n.1933-11T>C)
c.31-11T>C (n.31-11T>C)
c.268-11T>C (n.268-11T>C)
c.26-11T>C
n.601-11T>C
c.514-11T>C (n.514-11T>C)
c.559-11T>C (n.559-11T>C)
c.1930-11T>C (n.1930-11T>C)
c.264-11T>C
n.244-11T>C
c.798-11T>C
c.1861-11T>C (n.1861-11T>C)
c.31-11T>C
c.513-11T>C
n.599-11T>C
n.419T>C
n.301-11T>C
c.1189-11T>C (n.1189-11T>C)
c.1117-11T>C (n.1117-11T>C)
c.580-11T>C (n.580-11T>C)
c.1954-11T>C (n.1954-11T>C)
c.1951-11T>C (n.1951-11T>C)
c.1888-11T>C (n.1888-11T>C)
c.1882-11T>C (n.1882-11T>C)
c.1852-11T>C (n.1852-11T>C)
c.1690-11T>C (n.1690-11T>C)
c.1663-11T>C (n.1663-11T>C)
c.1480-11T>C (n.1480-11T>C)
c.1453-11T>C (n.1453-11T>C)
 gnomAD v4
7g.70777093C>TCA2578902346AUTS2c.1933-10C>T (n.1933-10C>T)
c.31-10C>T (n.31-10C>T)
c.268-10C>T (n.268-10C>T)
c.26-10C>T
n.601-10C>T
c.514-10C>T (n.514-10C>T)
c.559-10C>T (n.559-10C>T)
c.1930-10C>T (n.1930-10C>T)
c.264-10C>T
n.244-10C>T
c.798-10C>T
c.1861-10C>T (n.1861-10C>T)
c.31-10C>T
c.513-10C>T
n.599-10C>T
n.420C>T
n.301-10C>T
c.1189-10C>T (n.1189-10C>T)
c.1117-10C>T (n.1117-10C>T)
c.580-10C>T (n.580-10C>T)
c.1954-10C>T (n.1954-10C>T)
c.1951-10C>T (n.1951-10C>T)
c.1888-10C>T (n.1888-10C>T)
c.1882-10C>T (n.1882-10C>T)
c.1852-10C>T (n.1852-10C>T)
c.1690-10C>T (n.1690-10C>T)
c.1663-10C>T (n.1663-10C>T)
c.1480-10C>T (n.1480-10C>T)
c.1453-10C>T (n.1453-10C>T)
 gnomAD v4
7g.70777099C=CA1716145380AUTS2c.1933-4C= (n.1933-4C=)
c.31-4C= (n.31-4C=)
c.268-4C= (n.268-4C=)
c.26-4C=
n.601-4C=
c.514-4C= (n.514-4C=)
c.559-4C= (n.559-4C=)
c.1930-4C= (n.1930-4C=)
c.264-4C=
n.244-4C=
c.798-4C=
c.1861-4C= (n.1861-4C=)
c.31-4C=
c.513-4C=
n.599-4C=
n.426C=
n.301-4C=
c.1189-4C= (n.1189-4C=)
c.1117-4C= (n.1117-4C=)
c.580-4C= (n.580-4C=)
c.1954-4C= (n.1954-4C=)
c.1951-4C= (n.1951-4C=)
c.1888-4C= (n.1888-4C=)
c.1882-4C= (n.1882-4C=)
c.1852-4C= (n.1852-4C=)
c.1690-4C= (n.1690-4C=)
c.1663-4C= (n.1663-4C=)
c.1480-4C= (n.1480-4C=)
c.1453-4C= (n.1453-4C=)
7g.70777099C>GCA575288430AUTS2c.1933-4C>G (n.1933-4C>G)
c.31-4C>G (n.31-4C>G)
c.268-4C>G (n.268-4C>G)
c.26-4C>G
n.601-4C>G
c.514-4C>G (n.514-4C>G)
c.559-4C>G (n.559-4C>G)
c.1930-4C>G (n.1930-4C>G)
c.264-4C>G
n.244-4C>G
c.798-4C>G
c.1861-4C>G (n.1861-4C>G)
c.31-4C>G
c.513-4C>G
n.599-4C>G
n.426C>G
n.301-4C>G
c.1189-4C>G (n.1189-4C>G)
c.1117-4C>G (n.1117-4C>G)
c.580-4C>G (n.580-4C>G)
c.1954-4C>G (n.1954-4C>G)
c.1951-4C>G (n.1951-4C>G)
c.1888-4C>G (n.1888-4C>G)
c.1882-4C>G (n.1882-4C>G)
c.1852-4C>G (n.1852-4C>G)
c.1690-4C>G (n.1690-4C>G)
c.1663-4C>G (n.1663-4C>G)
c.1480-4C>G (n.1480-4C>G)
c.1453-4C>G (n.1453-4C>G)
 dbSNP gnomAD v2 gnomAD v4
7g.70777099C>TCA2776369925AUTS2c.1933-4C>T (n.1933-4C>T)
c.31-4C>T (n.31-4C>T)
c.268-4C>T (n.268-4C>T)
c.26-4C>T
n.601-4C>T
c.514-4C>T (n.514-4C>T)
c.559-4C>T (n.559-4C>T)
c.1930-4C>T (n.1930-4C>T)
c.264-4C>T
n.244-4C>T
c.798-4C>T
c.1861-4C>T (n.1861-4C>T)
c.31-4C>T
c.513-4C>T
n.599-4C>T
n.426C>T
n.301-4C>T
c.1189-4C>T (n.1189-4C>T)
c.1117-4C>T (n.1117-4C>T)
c.580-4C>T (n.580-4C>T)
c.1954-4C>T (n.1954-4C>T)
c.1951-4C>T (n.1951-4C>T)
c.1888-4C>T (n.1888-4C>T)
c.1882-4C>T (n.1882-4C>T)
c.1852-4C>T (n.1852-4C>T)
c.1690-4C>T (n.1690-4C>T)
c.1663-4C>T (n.1663-4C>T)
c.1480-4C>T (n.1480-4C>T)
c.1453-4C>T (n.1453-4C>T)
7g.70777100C=CA1716145386AUTS2c.1933-3C= (n.1933-3C=)
c.31-3C= (n.31-3C=)
c.268-3C= (n.268-3C=)
c.26-3C=
n.601-3C=
c.514-3C= (n.514-3C=)
c.559-3C= (n.559-3C=)
c.1930-3C= (n.1930-3C=)
c.264-3C=
n.244-3C=
c.798-3C=
c.1861-3C= (n.1861-3C=)
c.31-3C=
c.513-3C=
n.599-3C=
n.427C=
n.301-3C=
c.1189-3C= (n.1189-3C=)
c.1117-3C= (n.1117-3C=)
c.580-3C= (n.580-3C=)
c.1954-3C= (n.1954-3C=)
c.1951-3C= (n.1951-3C=)
c.1888-3C= (n.1888-3C=)
c.1882-3C= (n.1882-3C=)
c.1852-3C= (n.1852-3C=)
c.1690-3C= (n.1690-3C=)
c.1663-3C= (n.1663-3C=)
c.1480-3C= (n.1480-3C=)
c.1453-3C= (n.1453-3C=)
7g.70777100C>TCA4280855AUTS2c.1933-3C>T (n.1933-3C>T)
c.31-3C>T (n.31-3C>T)
c.268-3C>T (n.268-3C>T)
c.26-3C>T
n.601-3C>T
c.514-3C>T (n.514-3C>T)
c.559-3C>T (n.559-3C>T)
c.1930-3C>T (n.1930-3C>T)
c.264-3C>T
n.244-3C>T
c.798-3C>T
c.1861-3C>T (n.1861-3C>T)
c.31-3C>T
c.513-3C>T
n.599-3C>T
n.427C>T
n.301-3C>T
c.1189-3C>T (n.1189-3C>T)
c.1117-3C>T (n.1117-3C>T)
c.580-3C>T (n.580-3C>T)
c.1954-3C>T (n.1954-3C>T)
c.1951-3C>T (n.1951-3C>T)
c.1888-3C>T (n.1888-3C>T)
c.1882-3C>T (n.1882-3C>T)
c.1852-3C>T (n.1852-3C>T)
c.1690-3C>T (n.1690-3C>T)
c.1663-3C>T (n.1663-3C>T)
c.1480-3C>T (n.1480-3C>T)
c.1453-3C>T (n.1453-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
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)
7g.70777116G>ACA367669738AUTS2c.14G>A (p.Trp5Ter)
c.1946G>A (p.Trp649Ter)
c.44G>A (p.Trp15Ter)
c.281G>A (p.Trp94Ter)
c.39G>A
n.614G>A
c.527G>A (p.Trp176Ter)
c.572G>A (p.Trp191Ter)
c.1943G>A (p.Trp648Ter)
c.277G>A
n.257G>A
c.811G>A
c.1874G>A (p.Trp625Ter)
c.44G>A
c.526G>A
n.612G>A
n.443G>A
n.314G>A
c.1202G>A (p.Trp401Ter)
c.1130G>A (p.Trp377Ter)
c.593G>A (p.Trp198Ter)
c.1967G>A (p.Trp656Ter)
c.1964G>A (p.Trp655Ter)
c.1901G>A (p.Trp634Ter)
c.1895G>A (p.Trp632Ter)
c.1865G>A (p.Trp622Ter)
c.1703G>A (p.Trp568Ter)
c.1676G>A (p.Trp559Ter)
c.1493G>A (p.Trp498Ter)
c.1466G>A (p.Trp489Ter)
7g.70777116G>CCA367669739AUTS2c.14G>C (p.Trp5Ser)
c.1946G>C (p.Trp649Ser)
c.44G>C (p.Trp15Ser)
c.281G>C (p.Trp94Ser)
c.39G>C
n.614G>C
c.527G>C (p.Trp176Ser)
c.572G>C (p.Trp191Ser)
c.1943G>C (p.Trp648Ser)
c.277G>C
n.257G>C
c.811G>C
c.1874G>C (p.Trp625Ser)
c.44G>C
c.526G>C
n.612G>C
n.443G>C
n.314G>C
c.1202G>C (p.Trp401Ser)
c.1130G>C (p.Trp377Ser)
c.593G>C (p.Trp198Ser)
c.1967G>C (p.Trp656Ser)
c.1964G>C (p.Trp655Ser)
c.1901G>C (p.Trp634Ser)
c.1895G>C (p.Trp632Ser)
c.1865G>C (p.Trp622Ser)
c.1703G>C (p.Trp568Ser)
c.1676G>C (p.Trp559Ser)
c.1493G>C (p.Trp498Ser)
c.1466G>C (p.Trp489Ser)
7g.70777116G>TCA367669740AUTS2c.14G>T (p.Trp5Leu)
c.1946G>T (p.Trp649Leu)
c.44G>T (p.Trp15Leu)
c.281G>T (p.Trp94Leu)
c.39G>T
n.614G>T
c.527G>T (p.Trp176Leu)
c.572G>T (p.Trp191Leu)
c.1943G>T (p.Trp648Leu)
c.277G>T
n.257G>T
c.811G>T
c.1874G>T (p.Trp625Leu)
c.44G>T
c.526G>T
n.612G>T
n.443G>T
n.314G>T
c.1202G>T (p.Trp401Leu)
c.1130G>T (p.Trp377Leu)
c.593G>T (p.Trp198Leu)
c.1967G>T (p.Trp656Leu)
c.1964G>T (p.Trp655Leu)
c.1901G>T (p.Trp634Leu)
c.1895G>T (p.Trp632Leu)
c.1865G>T (p.Trp622Leu)
c.1703G>T (p.Trp568Leu)
c.1676G>T (p.Trp559Leu)
c.1493G>T (p.Trp498Leu)
c.1466G>T (p.Trp489Leu)
7g.70777117G>ACA367669741AUTS2c.15G>A (p.Trp5Ter)
c.1947G>A (p.Trp649Ter)
c.45G>A (p.Trp15Ter)
c.282G>A (p.Trp94Ter)
c.40G>A
n.615G>A
c.528G>A (p.Trp176Ter)
c.573G>A (p.Trp191Ter)
c.1944G>A (p.Trp648Ter)
c.278G>A
n.258G>A
c.812G>A
c.1875G>A (p.Trp625Ter)
c.45G>A
c.527G>A
n.613G>A
n.444G>A
n.315G>A
c.1203G>A (p.Trp401Ter)
c.1131G>A (p.Trp377Ter)
c.594G>A (p.Trp198Ter)
c.1968G>A (p.Trp656Ter)
c.1965G>A (p.Trp655Ter)
c.1902G>A (p.Trp634Ter)
c.1896G>A (p.Trp632Ter)
c.1866G>A (p.Trp622Ter)
c.1704G>A (p.Trp568Ter)
c.1677G>A (p.Trp559Ter)
c.1494G>A (p.Trp498Ter)
c.1467G>A (p.Trp489Ter)
7g.70777117G>CCA367669743AUTS2c.15G>C (p.Trp5Cys)
c.1947G>C (p.Trp649Cys)
c.45G>C (p.Trp15Cys)
c.282G>C (p.Trp94Cys)
c.40G>C
n.615G>C
c.528G>C (p.Trp176Cys)
c.573G>C (p.Trp191Cys)
c.1944G>C (p.Trp648Cys)
c.278G>C
n.258G>C
c.812G>C
c.1875G>C (p.Trp625Cys)
c.45G>C
c.527G>C
n.613G>C
n.444G>C
n.315G>C
c.1203G>C (p.Trp401Cys)
c.1131G>C (p.Trp377Cys)
c.594G>C (p.Trp198Cys)
c.1968G>C (p.Trp656Cys)
c.1965G>C (p.Trp655Cys)
c.1902G>C (p.Trp634Cys)
c.1896G>C (p.Trp632Cys)
c.1866G>C (p.Trp622Cys)
c.1704G>C (p.Trp568Cys)
c.1677G>C (p.Trp559Cys)
c.1494G>C (p.Trp498Cys)
c.1467G>C (p.Trp489Cys)
7g.70777117G>TCA367669742AUTS2c.15G>T (p.Trp5Cys)
c.1947G>T (p.Trp649Cys)
c.45G>T (p.Trp15Cys)
c.282G>T (p.Trp94Cys)
c.40G>T
n.615G>T
c.528G>T (p.Trp176Cys)
c.573G>T (p.Trp191Cys)
c.1944G>T (p.Trp648Cys)
c.278G>T
n.258G>T
c.812G>T
c.1875G>T (p.Trp625Cys)
c.45G>T
c.527G>T
n.613G>T
n.444G>T
n.315G>T
c.1203G>T (p.Trp401Cys)
c.1131G>T (p.Trp377Cys)
c.594G>T (p.Trp198Cys)
c.1968G>T (p.Trp656Cys)
c.1965G>T (p.Trp655Cys)
c.1902G>T (p.Trp634Cys)
c.1896G>T (p.Trp632Cys)
c.1866G>T (p.Trp622Cys)
c.1704G>T (p.Trp568Cys)
c.1677G>T (p.Trp559Cys)
c.1494G>T (p.Trp498Cys)
c.1467G>T (p.Trp489Cys)
7g.70777118T>ACA367669744AUTS2c.16T>A (p.Cys6Ser)
c.1948T>A (p.Cys650Ser)
c.46T>A (p.Cys16Ser)
c.283T>A (p.Cys95Ser)
c.41T>A
n.616T>A
c.529T>A (p.Cys177Ser)
c.574T>A (p.Cys192Ser)
c.1945T>A (p.Cys649Ser)
c.279T>A
n.259T>A
c.813T>A
c.1876T>A (p.Cys626Ser)
c.46T>A
c.528T>A
n.614T>A
n.445T>A
n.316T>A
c.1204T>A (p.Cys402Ser)
c.1132T>A (p.Cys378Ser)
c.595T>A (p.Cys199Ser)
c.1969T>A (p.Cys657Ser)
c.1966T>A (p.Cys656Ser)
c.1903T>A (p.Cys635Ser)
c.1897T>A (p.Cys633Ser)
c.1867T>A (p.Cys623Ser)
c.1705T>A (p.Cys569Ser)
c.1678T>A (p.Cys560Ser)
c.1495T>A (p.Cys499Ser)
c.1468T>A (p.Cys490Ser)
7g.70777118T>CCA367669745AUTS2c.16T>C (p.Cys6Arg)
c.1948T>C (p.Cys650Arg)
c.46T>C (p.Cys16Arg)
c.283T>C (p.Cys95Arg)
c.41T>C
n.616T>C
c.529T>C (p.Cys177Arg)
c.574T>C (p.Cys192Arg)
c.1945T>C (p.Cys649Arg)
c.279T>C
n.259T>C
c.813T>C
c.1876T>C (p.Cys626Arg)
c.46T>C
c.528T>C
n.614T>C
n.445T>C
n.316T>C
c.1204T>C (p.Cys402Arg)
c.1132T>C (p.Cys378Arg)
c.595T>C (p.Cys199Arg)
c.1969T>C (p.Cys657Arg)
c.1966T>C (p.Cys656Arg)
c.1903T>C (p.Cys635Arg)
c.1897T>C (p.Cys633Arg)
c.1867T>C (p.Cys623Arg)
c.1705T>C (p.Cys569Arg)
c.1678T>C (p.Cys560Arg)
c.1495T>C (p.Cys499Arg)
c.1468T>C (p.Cys490Arg)
7g.70777118T>GCA367669746AUTS2c.16T>G (p.Cys6Gly)
c.1948T>G (p.Cys650Gly)
c.46T>G (p.Cys16Gly)
c.283T>G (p.Cys95Gly)
c.41T>G
n.616T>G
c.529T>G (p.Cys177Gly)
c.574T>G (p.Cys192Gly)
c.1945T>G (p.Cys649Gly)
c.279T>G
n.259T>G
c.813T>G
c.1876T>G (p.Cys626Gly)
c.46T>G
c.528T>G
n.614T>G
n.445T>G
n.316T>G
c.1204T>G (p.Cys402Gly)
c.1132T>G (p.Cys378Gly)
c.595T>G (p.Cys199Gly)
c.1969T>G (p.Cys657Gly)
c.1966T>G (p.Cys656Gly)
c.1903T>G (p.Cys635Gly)
c.1897T>G (p.Cys633Gly)
c.1867T>G (p.Cys623Gly)
c.1705T>G (p.Cys569Gly)
c.1678T>G (p.Cys560Gly)
c.1495T>G (p.Cys499Gly)
c.1468T>G (p.Cys490Gly)
7g.70777119G>ACA367669747AUTS2c.17G>A (p.Cys6Tyr)
c.1949G>A (p.Cys650Tyr)
c.47G>A (p.Cys16Tyr)
c.284G>A (p.Cys95Tyr)
c.42G>A
n.617G>A
c.530G>A (p.Cys177Tyr)
c.575G>A (p.Cys192Tyr)
c.1946G>A (p.Cys649Tyr)
c.280G>A
n.260G>A
c.814G>A
c.1877G>A (p.Cys626Tyr)
c.47G>A
c.529G>A
n.615G>A
n.446G>A
n.317G>A
c.1205G>A (p.Cys402Tyr)
c.1133G>A (p.Cys378Tyr)
c.596G>A (p.Cys199Tyr)
c.1970G>A (p.Cys657Tyr)
c.1967G>A (p.Cys656Tyr)
c.1904G>A (p.Cys635Tyr)
c.1898G>A (p.Cys633Tyr)
c.1868G>A (p.Cys623Tyr)
c.1706G>A (p.Cys569Tyr)
c.1679G>A (p.Cys560Tyr)
c.1496G>A (p.Cys499Tyr)
c.1469G>A (p.Cys490Tyr)
 gnomAD v4 COSMIC
7g.70777119G>CCA367669748AUTS2c.17G>C (p.Cys6Ser)
c.1949G>C (p.Cys650Ser)
c.47G>C (p.Cys16Ser)
c.284G>C (p.Cys95Ser)
c.42G>C
n.617G>C
c.530G>C (p.Cys177Ser)
c.575G>C (p.Cys192Ser)
c.1946G>C (p.Cys649Ser)
c.280G>C
n.260G>C
c.814G>C
c.1877G>C (p.Cys626Ser)
c.47G>C
c.529G>C
n.615G>C
n.446G>C
n.317G>C
c.1205G>C (p.Cys402Ser)
c.1133G>C (p.Cys378Ser)
c.596G>C (p.Cys199Ser)
c.1970G>C (p.Cys657Ser)
c.1967G>C (p.Cys656Ser)
c.1904G>C (p.Cys635Ser)
c.1898G>C (p.Cys633Ser)
c.1868G>C (p.Cys623Ser)
c.1706G>C (p.Cys569Ser)
c.1679G>C (p.Cys560Ser)
c.1496G>C (p.Cys499Ser)
c.1469G>C (p.Cys490Ser)
7g.70777119G>TCA367669749AUTS2c.17G>T (p.Cys6Phe)
c.1949G>T (p.Cys650Phe)
c.47G>T (p.Cys16Phe)
c.284G>T (p.Cys95Phe)
c.42G>T
n.617G>T
c.530G>T (p.Cys177Phe)
c.575G>T (p.Cys192Phe)
c.1946G>T (p.Cys649Phe)
c.280G>T
n.260G>T
c.814G>T
c.1877G>T (p.Cys626Phe)
c.47G>T
c.529G>T
n.615G>T
n.446G>T
n.317G>T
c.1205G>T (p.Cys402Phe)
c.1133G>T (p.Cys378Phe)
c.596G>T (p.Cys199Phe)
c.1970G>T (p.Cys657Phe)
c.1967G>T (p.Cys656Phe)
c.1904G>T (p.Cys635Phe)
c.1898G>T (p.Cys633Phe)
c.1868G>T (p.Cys623Phe)
c.1706G>T (p.Cys569Phe)
c.1679G>T (p.Cys560Phe)
c.1496G>T (p.Cys499Phe)
c.1469G>T (p.Cys490Phe)
7g.70777120T>ACA367669750AUTS2c.18T>A (p.Cys6Ter)
c.1950T>A (p.Cys650Ter)
c.48T>A (p.Cys16Ter)
c.285T>A (p.Cys95Ter)
c.43T>A
n.618T>A
c.531T>A (p.Cys177Ter)
c.576T>A (p.Cys192Ter)
c.1947T>A (p.Cys649Ter)
c.281T>A
n.261T>A
c.815T>A
c.1878T>A (p.Cys626Ter)
c.48T>A
c.530T>A
n.616T>A
n.447T>A
n.318T>A
c.1206T>A (p.Cys402Ter)
c.1134T>A (p.Cys378Ter)
c.597T>A (p.Cys199Ter)
c.1971T>A (p.Cys657Ter)
c.1968T>A (p.Cys656Ter)
c.1905T>A (p.Cys635Ter)
c.1899T>A (p.Cys633Ter)
c.1869T>A (p.Cys623Ter)
c.1707T>A (p.Cys569Ter)
c.1680T>A (p.Cys560Ter)
c.1497T>A (p.Cys499Ter)
c.1470T>A (p.Cys490Ter)
7g.70777120T>CCA455803118AUTS2c.18T>C (p.Cys6=)
c.1950T>C (p.Cys650=)
c.48T>C (p.Cys16=)
c.285T>C (p.Cys95=)
c.43T>C
n.618T>C
c.531T>C (p.Cys177=)
c.576T>C (p.Cys192=)
c.1947T>C (p.Cys649=)
c.281T>C
n.261T>C
c.815T>C
c.1878T>C (p.Cys626=)
c.48T>C
c.530T>C
n.616T>C
n.447T>C
n.318T>C
c.1206T>C (p.Cys402=)
c.1134T>C (p.Cys378=)
c.597T>C (p.Cys199=)
c.1971T>C (p.Cys657=)
c.1968T>C (p.Cys656=)
c.1905T>C (p.Cys635=)
c.1899T>C (p.Cys633=)
c.1869T>C (p.Cys623=)
c.1707T>C (p.Cys569=)
c.1680T>C (p.Cys560=)
c.1497T>C (p.Cys499=)
c.1470T>C (p.Cys490=)
7g.70777120T>GCA367669751AUTS2c.18T>G (p.Cys6Trp)
c.1950T>G (p.Cys650Trp)
c.48T>G (p.Cys16Trp)
c.285T>G (p.Cys95Trp)
c.43T>G
n.618T>G
c.531T>G (p.Cys177Trp)
c.576T>G (p.Cys192Trp)
c.1947T>G (p.Cys649Trp)
c.281T>G
n.261T>G
c.815T>G
c.1878T>G (p.Cys626Trp)
c.48T>G
c.530T>G
n.616T>G
n.447T>G
n.318T>G
c.1206T>G (p.Cys402Trp)
c.1134T>G (p.Cys378Trp)
c.597T>G (p.Cys199Trp)
c.1971T>G (p.Cys657Trp)
c.1968T>G (p.Cys656Trp)
c.1905T>G (p.Cys635Trp)
c.1899T>G (p.Cys633Trp)
c.1869T>G (p.Cys623Trp)
c.1707T>G (p.Cys569Trp)
c.1680T>G (p.Cys560Trp)
c.1497T>G (p.Cys499Trp)
c.1470T>G (p.Cys490Trp)
7g.70777121G>ACA367669752AUTS2c.19G>A (p.Ala7Thr)
c.1951G>A (p.Ala651Thr)
c.49G>A (p.Ala17Thr)
c.286G>A (p.Ala96Thr)
c.44G>A
n.619G>A
c.532G>A (p.Ala178Thr)
c.577G>A (p.Ala193Thr)
c.1948G>A (p.Ala650Thr)
c.282G>A
n.262G>A
c.816G>A
c.1879G>A (p.Ala627Thr)
c.49G>A
c.531G>A
n.617G>A
n.448G>A
n.319G>A
c.1207G>A (p.Ala403Thr)
c.1135G>A (p.Ala379Thr)
c.598G>A (p.Ala200Thr)
c.1972G>A (p.Ala658Thr)
c.1969G>A (p.Ala657Thr)
c.1906G>A (p.Ala636Thr)
c.1900G>A (p.Ala634Thr)
c.1870G>A (p.Ala624Thr)
c.1708G>A (p.Ala570Thr)
c.1681G>A (p.Ala561Thr)
c.1498G>A (p.Ala500Thr)
c.1471G>A (p.Ala491Thr)
 ClinVar dbSNP COSMIC
7g.70777121G>CCA367669753AUTS2c.19G>C (p.Ala7Pro)
c.1951G>C (p.Ala651Pro)
c.49G>C (p.Ala17Pro)
c.286G>C (p.Ala96Pro)
c.44G>C
n.619G>C
c.532G>C (p.Ala178Pro)
c.577G>C (p.Ala193Pro)
c.1948G>C (p.Ala650Pro)
c.282G>C
n.262G>C
c.816G>C
c.1879G>C (p.Ala627Pro)
c.49G>C
c.531G>C
n.617G>C
n.448G>C
n.319G>C
c.1207G>C (p.Ala403Pro)
c.1135G>C (p.Ala379Pro)
c.598G>C (p.Ala200Pro)
c.1972G>C (p.Ala658Pro)
c.1969G>C (p.Ala657Pro)
c.1906G>C (p.Ala636Pro)
c.1900G>C (p.Ala634Pro)
c.1870G>C (p.Ala624Pro)
c.1708G>C (p.Ala570Pro)
c.1681G>C (p.Ala561Pro)
c.1498G>C (p.Ala500Pro)
c.1471G>C (p.Ala491Pro)
 gnomAD v4
7g.70777121G=CA1716145436AUTS2c.19G= (p.Ala7=)
c.1951G= (p.Ala651=)
c.49G= (p.Ala17=)
c.286G= (p.Ala96=)
c.44G=
n.619G=
c.532G= (p.Ala178=)
c.577G= (p.Ala193=)
c.1948G= (p.Ala650=)
c.282G=
n.262G=
c.816G=
c.1879G= (p.Ala627=)
c.49G=
c.531G=
n.617G=
n.448G=
n.319G=
c.1207G= (p.Ala403=)
c.1135G= (p.Ala379=)
c.598G= (p.Ala200=)
c.1972G= (p.Ala658=)
c.1969G= (p.Ala657=)
c.1906G= (p.Ala636=)
c.1900G= (p.Ala634=)
c.1870G= (p.Ala624=)
c.1708G= (p.Ala570=)
c.1681G= (p.Ala561=)
c.1498G= (p.Ala500=)
c.1471G= (p.Ala491=)
7g.70777121G>TCA367669754AUTS2c.19G>T (p.Ala7Ser)
c.1951G>T (p.Ala651Ser)
c.49G>T (p.Ala17Ser)
c.286G>T (p.Ala96Ser)
c.44G>T
n.619G>T
c.532G>T (p.Ala178Ser)
c.577G>T (p.Ala193Ser)
c.1948G>T (p.Ala650Ser)
c.282G>T
n.262G>T
c.816G>T
c.1879G>T (p.Ala627Ser)
c.49G>T
c.531G>T
n.617G>T
n.448G>T
n.319G>T
c.1207G>T (p.Ala403Ser)
c.1135G>T (p.Ala379Ser)
c.598G>T (p.Ala200Ser)
c.1972G>T (p.Ala658Ser)
c.1969G>T (p.Ala657Ser)
c.1906G>T (p.Ala636Ser)
c.1900G>T (p.Ala634Ser)
c.1870G>T (p.Ala624Ser)
c.1708G>T (p.Ala570Ser)
c.1681G>T (p.Ala561Ser)
c.1498G>T (p.Ala500Ser)
c.1471G>T (p.Ala491Ser)
7g.70777122C>ACA367669755AUTS2c.20C>A (p.Ala7Asp)
c.1952C>A (p.Ala651Asp)
c.50C>A (p.Ala17Asp)
c.287C>A (p.Ala96Asp)
c.45C>A
n.620C>A
c.533C>A (p.Ala178Asp)
c.578C>A (p.Ala193Asp)
c.1949C>A (p.Ala650Asp)
c.283C>A
n.263C>A
c.817C>A
c.1880C>A (p.Ala627Asp)
c.50C>A
c.532C>A
n.618C>A
n.449C>A
n.320C>A
c.1208C>A (p.Ala403Asp)
c.1136C>A (p.Ala379Asp)
c.599C>A (p.Ala200Asp)
c.1973C>A (p.Ala658Asp)
c.1970C>A (p.Ala657Asp)
c.1907C>A (p.Ala636Asp)
c.1901C>A (p.Ala634Asp)
c.1871C>A (p.Ala624Asp)
c.1709C>A (p.Ala570Asp)
c.1682C>A (p.Ala561Asp)
c.1499C>A (p.Ala500Asp)
c.1472C>A (p.Ala491Asp)
7g.70777122C>GCA367669756AUTS2c.20C>G (p.Ala7Gly)
c.1952C>G (p.Ala651Gly)
c.50C>G (p.Ala17Gly)
c.287C>G (p.Ala96Gly)
c.45C>G
n.620C>G
c.533C>G (p.Ala178Gly)
c.578C>G (p.Ala193Gly)
c.1949C>G (p.Ala650Gly)
c.283C>G
n.263C>G
c.817C>G
c.1880C>G (p.Ala627Gly)
c.50C>G
c.532C>G
n.618C>G
n.449C>G
n.320C>G
c.1208C>G (p.Ala403Gly)
c.1136C>G (p.Ala379Gly)
c.599C>G (p.Ala200Gly)
c.1973C>G (p.Ala658Gly)
c.1970C>G (p.Ala657Gly)
c.1907C>G (p.Ala636Gly)
c.1901C>G (p.Ala634Gly)
c.1871C>G (p.Ala624Gly)
c.1709C>G (p.Ala570Gly)
c.1682C>G (p.Ala561Gly)
c.1499C>G (p.Ala500Gly)
c.1472C>G (p.Ala491Gly)
7g.70777122C>TCA367669757AUTS2c.20C>T (p.Ala7Val)
c.1952C>T (p.Ala651Val)
c.50C>T (p.Ala17Val)
c.287C>T (p.Ala96Val)
c.45C>T
n.620C>T
c.533C>T (p.Ala178Val)
c.578C>T (p.Ala193Val)
c.1949C>T (p.Ala650Val)
c.283C>T
n.263C>T
c.817C>T
c.1880C>T (p.Ala627Val)
c.50C>T
c.532C>T
n.618C>T
n.449C>T
n.320C>T
c.1208C>T (p.Ala403Val)
c.1136C>T (p.Ala379Val)
c.599C>T (p.Ala200Val)
c.1973C>T (p.Ala658Val)
c.1970C>T (p.Ala657Val)
c.1907C>T (p.Ala636Val)
c.1901C>T (p.Ala634Val)
c.1871C>T (p.Ala624Val)
c.1709C>T (p.Ala570Val)
c.1682C>T (p.Ala561Val)
c.1499C>T (p.Ala500Val)
c.1472C>T (p.Ala491Val)
7g.70777123T>ACA4280858AUTS2c.21T>A (p.Ala7=)
c.1953T>A (p.Ala651=)
c.51T>A (p.Ala17=)
c.288T>A (p.Ala96=)
c.46T>A
n.621T>A
c.534T>A (p.Ala178=)
c.579T>A (p.Ala193=)
c.1950T>A (p.Ala650=)
c.284T>A
n.264T>A
c.818T>A
c.1881T>A (p.Ala627=)
c.51T>A
c.533T>A
n.619T>A
n.450T>A
n.321T>A
c.1209T>A (p.Ala403=)
c.1137T>A (p.Ala379=)
c.600T>A (p.Ala200=)
c.1974T>A (p.Ala658=)
c.1971T>A (p.Ala657=)
c.1908T>A (p.Ala636=)
c.1902T>A (p.Ala634=)
c.1872T>A (p.Ala624=)
c.1710T>A (p.Ala570=)
c.1683T>A (p.Ala561=)
c.1500T>A (p.Ala500=)
c.1473T>A (p.Ala491=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.70777123T>CCA455803121AUTS2c.21T>C (p.Ala7=)
c.1953T>C (p.Ala651=)
c.51T>C (p.Ala17=)
c.288T>C (p.Ala96=)
c.46T>C
n.621T>C
c.534T>C (p.Ala178=)
c.579T>C (p.Ala193=)
c.1950T>C (p.Ala650=)
c.284T>C
n.264T>C
c.818T>C
c.1881T>C (p.Ala627=)
c.51T>C
c.533T>C
n.619T>C
n.450T>C
n.321T>C
c.1209T>C (p.Ala403=)
c.1137T>C (p.Ala379=)
c.600T>C (p.Ala200=)
c.1974T>C (p.Ala658=)
c.1971T>C (p.Ala657=)
c.1908T>C (p.Ala636=)
c.1902T>C (p.Ala634=)
c.1872T>C (p.Ala624=)
c.1710T>C (p.Ala570=)
c.1683T>C (p.Ala561=)
c.1500T>C (p.Ala500=)
c.1473T>C (p.Ala491=)
 gnomAD v4
7g.70777123T>GCA455803120AUTS2c.21T>G (p.Ala7=)
c.1953T>G (p.Ala651=)
c.51T>G (p.Ala17=)
c.288T>G (p.Ala96=)
c.46T>G
n.621T>G
c.534T>G (p.Ala178=)
c.579T>G (p.Ala193=)
c.1950T>G (p.Ala650=)
c.284T>G
n.264T>G
c.818T>G
c.1881T>G (p.Ala627=)
c.51T>G
c.533T>G
n.619T>G
n.450T>G
n.321T>G
c.1209T>G (p.Ala403=)
c.1137T>G (p.Ala379=)
c.600T>G (p.Ala200=)
c.1974T>G (p.Ala658=)
c.1971T>G (p.Ala657=)
c.1908T>G (p.Ala636=)
c.1902T>G (p.Ala634=)
c.1872T>G (p.Ala624=)
c.1710T>G (p.Ala570=)
c.1683T>G (p.Ala561=)
c.1500T>G (p.Ala500=)
c.1473T>G (p.Ala491=)
7g.70777123T=CA1716145443AUTS2c.21T= (p.Ala7=)
c.1953T= (p.Ala651=)
c.51T= (p.Ala17=)
c.288T= (p.Ala96=)
c.46T=
n.621T=
c.534T= (p.Ala178=)
c.579T= (p.Ala193=)
c.1950T= (p.Ala650=)
c.284T=
n.264T=
c.818T=
c.1881T= (p.Ala627=)
c.51T=
c.533T=
n.619T=
n.450T=
n.321T=
c.1209T= (p.Ala403=)
c.1137T= (p.Ala379=)
c.600T= (p.Ala200=)
c.1974T= (p.Ala658=)
c.1971T= (p.Ala657=)
c.1908T= (p.Ala636=)
c.1902T= (p.Ala634=)
c.1872T= (p.Ala624=)
c.1710T= (p.Ala570=)
c.1683T= (p.Ala561=)
c.1500T= (p.Ala500=)
c.1473T= (p.Ala491=)
7g.70777124A>CCA367669758AUTS2c.22A>C (p.Met8Leu)
c.1954A>C (p.Met652Leu)
c.52A>C (p.Met18Leu)
c.289A>C (p.Met97Leu)
c.47A>C
n.622A>C
c.535A>C (p.Met179Leu)
c.580A>C (p.Met194Leu)
c.1951A>C (p.Met651Leu)
c.285A>C
n.265A>C
c.819A>C
c.1882A>C (p.Met628Leu)
c.52A>C
c.534A>C
n.620A>C
n.451A>C
n.322A>C
c.1210A>C (p.Met404Leu)
c.1138A>C (p.Met380Leu)
c.601A>C (p.Met201Leu)
c.1975A>C (p.Met659Leu)
c.1972A>C (p.Met658Leu)
c.1909A>C (p.Met637Leu)
c.1903A>C (p.Met635Leu)
c.1873A>C (p.Met625Leu)
c.1711A>C (p.Met571Leu)
c.1684A>C (p.Met562Leu)
c.1501A>C (p.Met501Leu)
c.1474A>C (p.Met492Leu)
 gnomAD v4
7g.70777124A>GCA367669759AUTS2c.22A>G (p.Met8Val)
c.1954A>G (p.Met652Val)
c.52A>G (p.Met18Val)
c.289A>G (p.Met97Val)
c.47A>G
n.622A>G
c.535A>G (p.Met179Val)
c.580A>G (p.Met194Val)
c.1951A>G (p.Met651Val)
c.285A>G
n.265A>G
c.819A>G
c.1882A>G (p.Met628Val)
c.52A>G
c.534A>G
n.620A>G
n.451A>G
n.322A>G
c.1210A>G (p.Met404Val)
c.1138A>G (p.Met380Val)
c.601A>G (p.Met201Val)
c.1975A>G (p.Met659Val)
c.1972A>G (p.Met658Val)
c.1909A>G (p.Met637Val)
c.1903A>G (p.Met635Val)
c.1873A>G (p.Met625Val)
c.1711A>G (p.Met571Val)
c.1684A>G (p.Met562Val)
c.1501A>G (p.Met501Val)
c.1474A>G (p.Met492Val)
 gnomAD v4
7g.70777124A>TCA367669760AUTS2c.22A>T (p.Met8Leu)
c.1954A>T (p.Met652Leu)
c.52A>T (p.Met18Leu)
c.289A>T (p.Met97Leu)
c.47A>T
n.622A>T
c.535A>T (p.Met179Leu)
c.580A>T (p.Met194Leu)
c.1951A>T (p.Met651Leu)
c.285A>T
n.265A>T
c.819A>T
c.1882A>T (p.Met628Leu)
c.52A>T
c.534A>T
n.620A>T
n.451A>T
n.322A>T
c.1210A>T (p.Met404Leu)
c.1138A>T (p.Met380Leu)
c.601A>T (p.Met201Leu)
c.1975A>T (p.Met659Leu)
c.1972A>T (p.Met658Leu)
c.1909A>T (p.Met637Leu)
c.1903A>T (p.Met635Leu)
c.1873A>T (p.Met625Leu)
c.1711A>T (p.Met571Leu)
c.1684A>T (p.Met562Leu)
c.1501A>T (p.Met501Leu)
c.1474A>T (p.Met492Leu)
7g.70777125T>ACA367669761AUTS2c.23T>A (p.Met8Lys)
c.1955T>A (p.Met652Lys)
c.53T>A (p.Met18Lys)
c.290T>A (p.Met97Lys)
c.48T>A
n.623T>A
c.536T>A (p.Met179Lys)
c.581T>A (p.Met194Lys)
c.1952T>A (p.Met651Lys)
c.286T>A
n.266T>A
c.820T>A
c.1883T>A (p.Met628Lys)
c.53T>A
c.535T>A
n.621T>A
n.452T>A
n.323T>A
c.1211T>A (p.Met404Lys)
c.1139T>A (p.Met380Lys)
c.602T>A (p.Met201Lys)
c.1976T>A (p.Met659Lys)
c.1973T>A (p.Met658Lys)
c.1910T>A (p.Met637Lys)
c.1904T>A (p.Met635Lys)
c.1874T>A (p.Met625Lys)
c.1712T>A (p.Met571Lys)
c.1685T>A (p.Met562Lys)
c.1502T>A (p.Met501Lys)
c.1475T>A (p.Met492Lys)
7g.70777125T>CCA367669762AUTS2c.23T>C (p.Met8Thr)
c.1955T>C (p.Met652Thr)
c.53T>C (p.Met18Thr)
c.290T>C (p.Met97Thr)
c.48T>C
n.623T>C
c.536T>C (p.Met179Thr)
c.581T>C (p.Met194Thr)
c.1952T>C (p.Met651Thr)
c.286T>C
n.266T>C
c.820T>C
c.1883T>C (p.Met628Thr)
c.53T>C
c.535T>C
n.621T>C
n.452T>C
n.323T>C
c.1211T>C (p.Met404Thr)
c.1139T>C (p.Met380Thr)
c.602T>C (p.Met201Thr)
c.1976T>C (p.Met659Thr)
c.1973T>C (p.Met658Thr)
c.1910T>C (p.Met637Thr)
c.1904T>C (p.Met635Thr)
c.1874T>C (p.Met625Thr)
c.1712T>C (p.Met571Thr)
c.1685T>C (p.Met562Thr)
c.1502T>C (p.Met501Thr)
c.1475T>C (p.Met492Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.70777125T>GCA367669763AUTS2c.23T>G (p.Met8Arg)
c.1955T>G (p.Met652Arg)
c.53T>G (p.Met18Arg)
c.290T>G (p.Met97Arg)
c.48T>G
n.623T>G
c.536T>G (p.Met179Arg)
c.581T>G (p.Met194Arg)
c.1952T>G (p.Met651Arg)
c.286T>G
n.266T>G
c.820T>G
c.1883T>G (p.Met628Arg)
c.53T>G
c.535T>G
n.621T>G
n.452T>G
n.323T>G
c.1211T>G (p.Met404Arg)
c.1139T>G (p.Met380Arg)
c.602T>G (p.Met201Arg)
c.1976T>G (p.Met659Arg)
c.1973T>G (p.Met658Arg)
c.1910T>G (p.Met637Arg)
c.1904T>G (p.Met635Arg)
c.1874T>G (p.Met625Arg)
c.1712T>G (p.Met571Arg)
c.1685T>G (p.Met562Arg)
c.1502T>G (p.Met501Arg)
c.1475T>G (p.Met492Arg)
7g.70777125T=CA1716145444AUTS2c.23T= (p.Met8=)
c.1955T= (p.Met652=)
c.53T= (p.Met18=)
c.290T= (p.Met97=)
c.48T=
n.623T=
c.536T= (p.Met179=)
c.581T= (p.Met194=)
c.1952T= (p.Met651=)
c.286T=
n.266T=
c.820T=
c.1883T= (p.Met628=)
c.53T=
c.535T=
n.621T=
n.452T=
n.323T=
c.1211T= (p.Met404=)
c.1139T= (p.Met380=)
c.602T= (p.Met201=)
c.1976T= (p.Met659=)
c.1973T= (p.Met658=)
c.1910T= (p.Met637=)
c.1904T= (p.Met635=)
c.1874T= (p.Met625=)
c.1712T= (p.Met571=)
c.1685T= (p.Met562=)
c.1502T= (p.Met501=)
c.1475T= (p.Met492=)
7g.70777126G>ACA367669764AUTS2c.24G>A (p.Met8Ile)
c.1956G>A (p.Met652Ile)
c.54G>A (p.Met18Ile)
c.291G>A (p.Met97Ile)
c.49G>A
n.624G>A
c.537G>A (p.Met179Ile)
c.582G>A (p.Met194Ile)
c.1953G>A (p.Met651Ile)
c.287G>A
n.267G>A
c.821G>A
c.1884G>A (p.Met628Ile)
c.54G>A
c.536G>A
n.622G>A
n.453G>A
n.324G>A
c.1212G>A (p.Met404Ile)
c.1140G>A (p.Met380Ile)
c.603G>A (p.Met201Ile)
c.1977G>A (p.Met659Ile)
c.1974G>A (p.Met658Ile)
c.1911G>A (p.Met637Ile)
c.1905G>A (p.Met635Ile)
c.1875G>A (p.Met625Ile)
c.1713G>A (p.Met571Ile)
c.1686G>A (p.Met562Ile)
c.1503G>A (p.Met501Ile)
c.1476G>A (p.Met492Ile)
7g.70777126G>CCA4280859AUTS2c.24G>C (p.Met8Ile)
c.1956G>C (p.Met652Ile)
c.54G>C (p.Met18Ile)
c.291G>C (p.Met97Ile)
c.49G>C
n.624G>C
c.537G>C (p.Met179Ile)
c.582G>C (p.Met194Ile)
c.1953G>C (p.Met651Ile)
c.287G>C
n.267G>C
c.821G>C
c.1884G>C (p.Met628Ile)
c.54G>C
c.536G>C
n.622G>C
n.453G>C
n.324G>C
c.1212G>C (p.Met404Ile)
c.1140G>C (p.Met380Ile)
c.603G>C (p.Met201Ile)
c.1977G>C (p.Met659Ile)
c.1974G>C (p.Met658Ile)
c.1911G>C (p.Met637Ile)
c.1905G>C (p.Met635Ile)
c.1875G>C (p.Met625Ile)
c.1713G>C (p.Met571Ile)
c.1686G>C (p.Met562Ile)
c.1503G>C (p.Met501Ile)
c.1476G>C (p.Met492Ile)
 dbSNP ExAC gnomAD v2
7g.70777126G=CA1716145453AUTS2c.24G= (p.Met8=)
c.1956G= (p.Met652=)
c.54G= (p.Met18=)
c.291G= (p.Met97=)
c.49G=
n.624G=
c.537G= (p.Met179=)
c.582G= (p.Met194=)
c.1953G= (p.Met651=)
c.287G=
n.267G=
c.821G=
c.1884G= (p.Met628=)
c.54G=
c.536G=
n.622G=
n.453G=
n.324G=
c.1212G= (p.Met404=)
c.1140G= (p.Met380=)
c.603G= (p.Met201=)
c.1977G= (p.Met659=)
c.1974G= (p.Met658=)
c.1911G= (p.Met637=)
c.1905G= (p.Met635=)
c.1875G= (p.Met625=)
c.1713G= (p.Met571=)
c.1686G= (p.Met562=)
c.1503G= (p.Met501=)
c.1476G= (p.Met492=)
7g.70777126G>TCA367669765AUTS2c.24G>T (p.Met8Ile)
c.1956G>T (p.Met652Ile)
c.54G>T (p.Met18Ile)
c.291G>T (p.Met97Ile)
c.49G>T
n.624G>T
c.537G>T (p.Met179Ile)
c.582G>T (p.Met194Ile)
c.1953G>T (p.Met651Ile)
c.287G>T
n.267G>T
c.821G>T
c.1884G>T (p.Met628Ile)
c.54G>T
c.536G>T
n.622G>T
n.453G>T
n.324G>T
c.1212G>T (p.Met404Ile)
c.1140G>T (p.Met380Ile)
c.603G>T (p.Met201Ile)
c.1977G>T (p.Met659Ile)
c.1974G>T (p.Met658Ile)
c.1911G>T (p.Met637Ile)
c.1905G>T (p.Met635Ile)
c.1875G>T (p.Met625Ile)
c.1713G>T (p.Met571Ile)
c.1686G>T (p.Met562Ile)
c.1503G>T (p.Met501Ile)
c.1476G>T (p.Met492Ile)
 gnomAD v4
7g.70777127C>ACA367669766AUTS2c.25C>A (p.His9Asn)
c.1957C>A (p.His653Asn)
c.55C>A (p.His19Asn)
c.292C>A (p.His98Asn)
c.50C>A
n.625C>A
c.538C>A (p.His180Asn)
c.583C>A (p.His195Asn)
c.1954C>A (p.His652Asn)
c.288C>A
n.268C>A
c.822C>A
c.1885C>A (p.His629Asn)
c.55C>A
c.537C>A
n.623C>A
n.454C>A
n.325C>A
c.1213C>A (p.His405Asn)
c.1141C>A (p.His381Asn)
c.604C>A (p.His202Asn)
c.1978C>A (p.His660Asn)
c.1975C>A (p.His659Asn)
c.1912C>A (p.His638Asn)
c.1906C>A (p.His636Asn)
c.1876C>A (p.His626Asn)
c.1714C>A (p.His572Asn)
c.1687C>A (p.His563Asn)
c.1504C>A (p.His502Asn)
c.1477C>A (p.His493Asn)
7g.70777127C>GCA367669767AUTS2c.25C>G (p.His9Asp)
c.1957C>G (p.His653Asp)
c.55C>G (p.His19Asp)
c.292C>G (p.His98Asp)
c.50C>G
n.625C>G
c.538C>G (p.His180Asp)
c.583C>G (p.His195Asp)
c.1954C>G (p.His652Asp)
c.288C>G
n.268C>G
c.822C>G
c.1885C>G (p.His629Asp)
c.55C>G
c.537C>G
n.623C>G
n.454C>G
n.325C>G
c.1213C>G (p.His405Asp)
c.1141C>G (p.His381Asp)
c.604C>G (p.His202Asp)
c.1978C>G (p.His660Asp)
c.1975C>G (p.His659Asp)
c.1912C>G (p.His638Asp)
c.1906C>G (p.His636Asp)
c.1876C>G (p.His626Asp)
c.1714C>G (p.His572Asp)
c.1687C>G (p.His563Asp)
c.1504C>G (p.His502Asp)
c.1477C>G (p.His493Asp)
7g.70777127C>TCA367669768AUTS2c.25C>T (p.His9Tyr)
c.1957C>T (p.His653Tyr)
c.55C>T (p.His19Tyr)
c.292C>T (p.His98Tyr)
c.50C>T
n.625C>T
c.538C>T (p.His180Tyr)
c.583C>T (p.His195Tyr)
c.1954C>T (p.His652Tyr)
c.288C>T
n.268C>T
c.822C>T
c.1885C>T (p.His629Tyr)
c.55C>T
c.537C>T
n.623C>T
n.454C>T
n.325C>T
c.1213C>T (p.His405Tyr)
c.1141C>T (p.His381Tyr)
c.604C>T (p.His202Tyr)
c.1978C>T (p.His660Tyr)
c.1975C>T (p.His659Tyr)
c.1912C>T (p.His638Tyr)
c.1906C>T (p.His636Tyr)
c.1876C>T (p.His626Tyr)
c.1714C>T (p.His572Tyr)
c.1687C>T (p.His563Tyr)
c.1504C>T (p.His502Tyr)
c.1477C>T (p.His493Tyr)
7g.70777128A>CCA367669769AUTS2c.26A>C (p.His9Pro)
c.1958A>C (p.His653Pro)
c.56A>C (p.His19Pro)
c.293A>C (p.His98Pro)
c.51A>C
n.626A>C
c.539A>C (p.His180Pro)
c.584A>C (p.His195Pro)
c.1955A>C (p.His652Pro)
c.289A>C
n.269A>C
c.823A>C
c.1886A>C (p.His629Pro)
c.56A>C
c.538A>C
n.624A>C
n.455A>C
n.326A>C
c.1214A>C (p.His405Pro)
c.1142A>C (p.His381Pro)
c.605A>C (p.His202Pro)
c.1979A>C (p.His660Pro)
c.1976A>C (p.His659Pro)
c.1913A>C (p.His638Pro)
c.1907A>C (p.His636Pro)
c.1877A>C (p.His626Pro)
c.1715A>C (p.His572Pro)
c.1688A>C (p.His563Pro)
c.1505A>C (p.His502Pro)
c.1478A>C (p.His493Pro)
7g.70777128A>GCA367669771AUTS2c.26A>G (p.His9Arg)
c.1958A>G (p.His653Arg)
c.56A>G (p.His19Arg)
c.293A>G (p.His98Arg)
c.51A>G
n.626A>G
c.539A>G (p.His180Arg)
c.584A>G (p.His195Arg)
c.1955A>G (p.His652Arg)
c.289A>G
n.269A>G
c.823A>G
c.1886A>G (p.His629Arg)
c.56A>G
c.538A>G
n.624A>G
n.455A>G
n.326A>G
c.1214A>G (p.His405Arg)
c.1142A>G (p.His381Arg)
c.605A>G (p.His202Arg)
c.1979A>G (p.His660Arg)
c.1976A>G (p.His659Arg)
c.1913A>G (p.His638Arg)
c.1907A>G (p.His636Arg)
c.1877A>G (p.His626Arg)
c.1715A>G (p.His572Arg)
c.1688A>G (p.His563Arg)
c.1505A>G (p.His502Arg)
c.1478A>G (p.His493Arg)
7g.70777128A>TCA367669770AUTS2c.26A>T (p.His9Leu)
c.1958A>T (p.His653Leu)
c.56A>T (p.His19Leu)
c.293A>T (p.His98Leu)
c.51A>T
n.626A>T
c.539A>T (p.His180Leu)
c.584A>T (p.His195Leu)
c.1955A>T (p.His652Leu)
c.289A>T
n.269A>T
c.823A>T
c.1886A>T (p.His629Leu)
c.56A>T
c.538A>T
n.624A>T
n.455A>T
n.326A>T
c.1214A>T (p.His405Leu)
c.1142A>T (p.His381Leu)
c.605A>T (p.His202Leu)
c.1979A>T (p.His660Leu)
c.1976A>T (p.His659Leu)
c.1913A>T (p.His638Leu)
c.1907A>T (p.His636Leu)
c.1877A>T (p.His626Leu)
c.1715A>T (p.His572Leu)
c.1688A>T (p.His563Leu)
c.1505A>T (p.His502Leu)
c.1478A>T (p.His493Leu)
7g.70777129T>ACA367669772AUTS2c.27T>A (p.His9Gln)
c.1959T>A (p.His653Gln)
c.57T>A (p.His19Gln)
c.294T>A (p.His98Gln)
c.52T>A
n.627T>A
c.540T>A (p.His180Gln)
c.585T>A (p.His195Gln)
c.1956T>A (p.His652Gln)
c.290T>A
n.270T>A
c.824T>A
c.1887T>A (p.His629Gln)
c.57T>A
c.539T>A
n.625T>A
n.456T>A
n.327T>A
c.1215T>A (p.His405Gln)
c.1143T>A (p.His381Gln)
c.606T>A (p.His202Gln)
c.1980T>A (p.His660Gln)
c.1977T>A (p.His659Gln)
c.1914T>A (p.His638Gln)
c.1908T>A (p.His636Gln)
c.1878T>A (p.His626Gln)
c.1716T>A (p.His572Gln)
c.1689T>A (p.His563Gln)
c.1506T>A (p.His502Gln)
c.1479T>A (p.His493Gln)
7g.70777129T>CCA4280860AUTS2c.27T>C (p.His9=)
c.1959T>C (p.His653=)
c.57T>C (p.His19=)
c.294T>C (p.His98=)
c.52T>C
n.627T>C
c.540T>C (p.His180=)
c.585T>C (p.His195=)
c.1956T>C (p.His652=)
c.290T>C
n.270T>C
c.824T>C
c.1887T>C (p.His629=)
c.57T>C
c.539T>C
n.625T>C
n.456T>C
n.327T>C
c.1215T>C (p.His405=)
c.1143T>C (p.His381=)
c.606T>C (p.His202=)
c.1980T>C (p.His660=)
c.1977T>C (p.His659=)
c.1914T>C (p.His638=)
c.1908T>C (p.His636=)
c.1878T>C (p.His626=)
c.1716T>C (p.His572=)
c.1689T>C (p.His563=)
c.1506T>C (p.His502=)
c.1479T>C (p.His493=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.70777129T>GCA367669773AUTS2c.27T>G (p.His9Gln)
c.1959T>G (p.His653Gln)
c.57T>G (p.His19Gln)
c.294T>G (p.His98Gln)
c.52T>G
n.627T>G
c.540T>G (p.His180Gln)
c.585T>G (p.His195Gln)
c.1956T>G (p.His652Gln)
c.290T>G
n.270T>G
c.824T>G
c.1887T>G (p.His629Gln)
c.57T>G
c.539T>G
n.625T>G
n.456T>G
n.327T>G
c.1215T>G (p.His405Gln)
c.1143T>G (p.His381Gln)
c.606T>G (p.His202Gln)
c.1980T>G (p.His660Gln)
c.1977T>G (p.His659Gln)
c.1914T>G (p.His638Gln)
c.1908T>G (p.His636Gln)
c.1878T>G (p.His626Gln)
c.1716T>G (p.His572Gln)
c.1689T>G (p.His563Gln)
c.1506T>G (p.His502Gln)
c.1479T>G (p.His493Gln)
7g.70777129T=CA1716145460AUTS2c.27T= (p.His9=)
c.1959T= (p.His653=)
c.57T= (p.His19=)
c.294T= (p.His98=)
c.52T=
n.627T=
c.540T= (p.His180=)
c.585T= (p.His195=)
c.1956T= (p.His652=)
c.290T=
n.270T=
c.824T=
c.1887T= (p.His629=)
c.57T=
c.539T=
n.625T=
n.456T=
n.327T=
c.1215T= (p.His405=)
c.1143T= (p.His381=)
c.606T= (p.His202=)
c.1980T= (p.His660=)
c.1977T= (p.His659=)
c.1914T= (p.His638=)
c.1908T= (p.His636=)
c.1878T= (p.His626=)
c.1716T= (p.His572=)
c.1689T= (p.His563=)
c.1506T= (p.His502=)
c.1479T= (p.His493=)
7g.70777130G>ACA367669774AUTS2c.28G>A (p.Val10Ile)
c.1960G>A (p.Val654Ile)
c.58G>A (p.Val20Ile)
c.295G>A (p.Val99Ile)
c.53G>A
n.628G>A
c.541G>A (p.Val181Ile)
c.586G>A (p.Val196Ile)
c.1957G>A (p.Val653Ile)
c.291G>A
n.271G>A
c.825G>A
c.1888G>A (p.Val630Ile)
c.58G>A
c.540G>A
n.626G>A
n.457G>A
n.328G>A
c.1216G>A (p.Val406Ile)
c.1144G>A (p.Val382Ile)
c.607G>A (p.Val203Ile)
c.1981G>A (p.Val661Ile)
c.1978G>A (p.Val660Ile)
c.1915G>A (p.Val639Ile)
c.1909G>A (p.Val637Ile)
c.1879G>A (p.Val627Ile)
c.1717G>A (p.Val573Ile)
c.1690G>A (p.Val564Ile)
c.1507G>A (p.Val503Ile)
c.1480G>A (p.Val494Ile)
 ClinVar
7g.70777130G>CCA367669775AUTS2c.28G>C (p.Val10Leu)
c.1960G>C (p.Val654Leu)
c.58G>C (p.Val20Leu)
c.295G>C (p.Val99Leu)
c.53G>C
n.628G>C
c.541G>C (p.Val181Leu)
c.586G>C (p.Val196Leu)
c.1957G>C (p.Val653Leu)
c.291G>C
n.271G>C
c.825G>C
c.1888G>C (p.Val630Leu)
c.58G>C
c.540G>C
n.626G>C
n.457G>C
n.328G>C
c.1216G>C (p.Val406Leu)
c.1144G>C (p.Val382Leu)
c.607G>C (p.Val203Leu)
c.1981G>C (p.Val661Leu)
c.1978G>C (p.Val660Leu)
c.1915G>C (p.Val639Leu)
c.1909G>C (p.Val637Leu)
c.1879G>C (p.Val627Leu)
c.1717G>C (p.Val573Leu)
c.1690G>C (p.Val564Leu)
c.1507G>C (p.Val503Leu)
c.1480G>C (p.Val494Leu)
7g.70777130G>TCA367669776AUTS2c.28G>T (p.Val10Phe)
c.1960G>T (p.Val654Phe)
c.58G>T (p.Val20Phe)
c.295G>T (p.Val99Phe)
c.53G>T
n.628G>T
c.541G>T (p.Val181Phe)
c.586G>T (p.Val196Phe)
c.1957G>T (p.Val653Phe)
c.291G>T
n.271G>T
c.825G>T
c.1888G>T (p.Val630Phe)
c.58G>T
c.540G>T
n.626G>T
n.457G>T
n.328G>T
c.1216G>T (p.Val406Phe)
c.1144G>T (p.Val382Phe)
c.607G>T (p.Val203Phe)
c.1981G>T (p.Val661Phe)
c.1978G>T (p.Val660Phe)
c.1915G>T (p.Val639Phe)
c.1909G>T (p.Val637Phe)
c.1879G>T (p.Val627Phe)
c.1717G>T (p.Val573Phe)
c.1690G>T (p.Val564Phe)
c.1507G>T (p.Val503Phe)
c.1480G>T (p.Val494Phe)
7g.70777131T>ACA367669777AUTS2c.29T>A (p.Val10Asp)
c.1961T>A (p.Val654Asp)
c.59T>A (p.Val20Asp)
c.296T>A (p.Val99Asp)
c.54T>A
n.629T>A
c.542T>A (p.Val181Asp)
c.587T>A (p.Val196Asp)
c.1958T>A (p.Val653Asp)
c.292T>A
n.272T>A
c.826T>A
c.1889T>A (p.Val630Asp)
c.59T>A
c.541T>A
n.627T>A
n.458T>A
n.329T>A
c.1217T>A (p.Val406Asp)
c.1145T>A (p.Val382Asp)
c.608T>A (p.Val203Asp)
c.1982T>A (p.Val661Asp)
c.1979T>A (p.Val660Asp)
c.1916T>A (p.Val639Asp)
c.1910T>A (p.Val637Asp)
c.1880T>A (p.Val627Asp)
c.1718T>A (p.Val573Asp)
c.1691T>A (p.Val564Asp)
c.1508T>A (p.Val503Asp)
c.1481T>A (p.Val494Asp)
7g.70777131T>CCA367669778AUTS2c.29T>C (p.Val10Ala)
c.1961T>C (p.Val654Ala)
c.59T>C (p.Val20Ala)
c.296T>C (p.Val99Ala)
c.54T>C
n.629T>C
c.542T>C (p.Val181Ala)
c.587T>C (p.Val196Ala)
c.1958T>C (p.Val653Ala)
c.292T>C
n.272T>C
c.826T>C
c.1889T>C (p.Val630Ala)
c.59T>C
c.541T>C
n.627T>C
n.458T>C
n.329T>C
c.1217T>C (p.Val406Ala)
c.1145T>C (p.Val382Ala)
c.608T>C (p.Val203Ala)
c.1982T>C (p.Val661Ala)
c.1979T>C (p.Val660Ala)
c.1916T>C (p.Val639Ala)
c.1910T>C (p.Val637Ala)
c.1880T>C (p.Val627Ala)
c.1718T>C (p.Val573Ala)
c.1691T>C (p.Val564Ala)
c.1508T>C (p.Val503Ala)
c.1481T>C (p.Val494Ala)
7g.70777131T>GCA367669779AUTS2c.29T>G (p.Val10Gly)
c.1961T>G (p.Val654Gly)
c.59T>G (p.Val20Gly)
c.296T>G (p.Val99Gly)
c.54T>G
n.629T>G
c.542T>G (p.Val181Gly)
c.587T>G (p.Val196Gly)
c.1958T>G (p.Val653Gly)
c.292T>G
n.272T>G
c.826T>G
c.1889T>G (p.Val630Gly)
c.59T>G
c.541T>G
n.627T>G
n.458T>G
n.329T>G
c.1217T>G (p.Val406Gly)
c.1145T>G (p.Val382Gly)
c.608T>G (p.Val203Gly)
c.1982T>G (p.Val661Gly)
c.1979T>G (p.Val660Gly)
c.1916T>G (p.Val639Gly)
c.1910T>G (p.Val637Gly)
c.1880T>G (p.Val627Gly)
c.1718T>G (p.Val573Gly)
c.1691T>G (p.Val564Gly)
c.1508T>G (p.Val503Gly)
c.1481T>G (p.Val494Gly)
7g.70777132T>ACA455803126AUTS2c.30T>A (p.Val10=)
c.1962T>A (p.Val654=)
c.60T>A (p.Val20=)
c.297T>A (p.Val99=)
c.55T>A
n.630T>A
c.543T>A (p.Val181=)
c.588T>A (p.Val196=)
c.1959T>A (p.Val653=)
c.293T>A
n.273T>A
c.827T>A
c.1890T>A (p.Val630=)
c.60T>A
c.542T>A
n.628T>A
n.459T>A
n.330T>A
c.1218T>A (p.Val406=)
c.1146T>A (p.Val382=)
c.609T>A (p.Val203=)
c.1983T>A (p.Val661=)
c.1980T>A (p.Val660=)
c.1917T>A (p.Val639=)
c.1911T>A (p.Val637=)
c.1881T>A (p.Val627=)
c.1719T>A (p.Val573=)
c.1692T>A (p.Val564=)
c.1509T>A (p.Val503=)
c.1482T>A (p.Val494=)
7g.70777132T>CCA455803127AUTS2c.30T>C (p.Val10=)
c.1962T>C (p.Val654=)
c.60T>C (p.Val20=)
c.297T>C (p.Val99=)
c.55T>C
n.630T>C
c.543T>C (p.Val181=)
c.588T>C (p.Val196=)
c.1959T>C (p.Val653=)
c.293T>C
n.273T>C
c.827T>C
c.1890T>C (p.Val630=)
c.60T>C
c.542T>C
n.628T>C
n.459T>C
n.330T>C
c.1218T>C (p.Val406=)
c.1146T>C (p.Val382=)
c.609T>C (p.Val203=)
c.1983T>C (p.Val661=)
c.1980T>C (p.Val660=)
c.1917T>C (p.Val639=)
c.1911T>C (p.Val637=)
c.1881T>C (p.Val627=)
c.1719T>C (p.Val573=)
c.1692T>C (p.Val564=)
c.1509T>C (p.Val503=)
c.1482T>C (p.Val494=)
7g.70777132T>GCA455803128AUTS2c.30T>G (p.Val10=)
c.1962T>G (p.Val654=)
c.60T>G (p.Val20=)
c.297T>G (p.Val99=)
c.55T>G
n.630T>G
c.543T>G (p.Val181=)
c.588T>G (p.Val196=)
c.1959T>G (p.Val653=)
c.293T>G
n.273T>G
c.827T>G
c.1890T>G (p.Val630=)
c.60T>G
c.542T>G
n.628T>G
n.459T>G
n.330T>G
c.1218T>G (p.Val406=)
c.1146T>G (p.Val382=)
c.609T>G (p.Val203=)
c.1983T>G (p.Val661=)
c.1980T>G (p.Val660=)
c.1917T>G (p.Val639=)
c.1911T>G (p.Val637=)
c.1881T>G (p.Val627=)
c.1719T>G (p.Val573=)
c.1692T>G (p.Val564=)
c.1509T>G (p.Val503=)
c.1482T>G (p.Val494=)
7g.70777133C>ACA367669780AUTS2c.31C>A (p.His11Asn)
c.1963C>A (p.His655Asn)
c.61C>A (p.His21Asn)
c.298C>A (p.His100Asn)
c.56C>A
n.631C>A
c.544C>A (p.His182Asn)
c.589C>A (p.His197Asn)
c.1960C>A (p.His654Asn)
c.294C>A
n.274C>A
c.828C>A
c.1891C>A (p.His631Asn)
c.61C>A
n.629C>A
n.460C>A
n.331C>A
c.1219C>A (p.His407Asn)
c.1147C>A (p.His383Asn)
c.610C>A (p.His204Asn)
c.1984C>A (p.His662Asn)
c.1981C>A (p.His661Asn)
c.1918C>A (p.His640Asn)
c.1912C>A (p.His638Asn)
c.1882C>A (p.His628Asn)
c.1720C>A (p.His574Asn)
c.1693C>A (p.His565Asn)
c.1510C>A (p.His504Asn)
c.1483C>A (p.His495Asn)
7g.70777133C>GCA367669781AUTS2c.31C>G (p.His11Asp)
c.1963C>G (p.His655Asp)
c.61C>G (p.His21Asp)
c.298C>G (p.His100Asp)
c.56C>G
n.631C>G
c.544C>G (p.His182Asp)
c.589C>G (p.His197Asp)
c.1960C>G (p.His654Asp)
c.294C>G
n.274C>G
c.828C>G
c.1891C>G (p.His631Asp)
c.61C>G
n.629C>G
n.460C>G
n.331C>G
c.1219C>G (p.His407Asp)
c.1147C>G (p.His383Asp)
c.610C>G (p.His204Asp)
c.1984C>G (p.His662Asp)
c.1981C>G (p.His661Asp)
c.1918C>G (p.His640Asp)
c.1912C>G (p.His638Asp)
c.1882C>G (p.His628Asp)
c.1720C>G (p.His574Asp)
c.1693C>G (p.His565Asp)
c.1510C>G (p.His504Asp)
c.1483C>G (p.His495Asp)
7g.70777133C>TCA367669782AUTS2c.31C>T (p.His11Tyr)
c.1963C>T (p.His655Tyr)
c.61C>T (p.His21Tyr)
c.298C>T (p.His100Tyr)
c.56C>T
n.631C>T
c.544C>T (p.His182Tyr)
c.589C>T (p.His197Tyr)
c.1960C>T (p.His654Tyr)
c.294C>T
n.274C>T
c.828C>T
c.1891C>T (p.His631Tyr)
c.61C>T
n.629C>T
n.460C>T
n.331C>T
c.1219C>T (p.His407Tyr)
c.1147C>T (p.His383Tyr)
c.610C>T (p.His204Tyr)
c.1984C>T (p.His662Tyr)
c.1981C>T (p.His661Tyr)
c.1918C>T (p.His640Tyr)
c.1912C>T (p.His638Tyr)
c.1882C>T (p.His628Tyr)
c.1720C>T (p.His574Tyr)
c.1693C>T (p.His565Tyr)
c.1510C>T (p.His504Tyr)
c.1483C>T (p.His495Tyr)
7g.70777134A>CCA367669783AUTS2c.32A>C (p.His11Pro)
c.1964A>C (p.His655Pro)
c.62A>C (p.His21Pro)
c.299A>C (p.His100Pro)
c.57A>C
n.632A>C
c.545A>C (p.His182Pro)
c.590A>C (p.His197Pro)
c.1961A>C (p.His654Pro)
c.295A>C
n.275A>C
c.829A>C
c.1892A>C (p.His631Pro)
c.62A>C
n.630A>C
n.461A>C
n.332A>C
c.1220A>C (p.His407Pro)
c.1148A>C (p.His383Pro)
c.611A>C (p.His204Pro)
c.1985A>C (p.His662Pro)
c.1982A>C (p.His661Pro)
c.1919A>C (p.His640Pro)
c.1913A>C (p.His638Pro)
c.1883A>C (p.His628Pro)
c.1721A>C (p.His574Pro)
c.1694A>C (p.His565Pro)
c.1511A>C (p.His504Pro)
c.1484A>C (p.His495Pro)
7g.70777134A>GCA367669784AUTS2c.32A>G (p.His11Arg)
c.1964A>G (p.His655Arg)
c.62A>G (p.His21Arg)
c.299A>G (p.His100Arg)
c.57A>G
n.632A>G
c.545A>G (p.His182Arg)
c.590A>G (p.His197Arg)
c.1961A>G (p.His654Arg)
c.295A>G
n.275A>G
c.829A>G
c.1892A>G (p.His631Arg)
c.62A>G
n.630A>G
n.461A>G
n.332A>G
c.1220A>G (p.His407Arg)
c.1148A>G (p.His383Arg)
c.611A>G (p.His204Arg)
c.1985A>G (p.His662Arg)
c.1982A>G (p.His661Arg)
c.1919A>G (p.His640Arg)
c.1913A>G (p.His638Arg)
c.1883A>G (p.His628Arg)
c.1721A>G (p.His574Arg)
c.1694A>G (p.His565Arg)
c.1511A>G (p.His504Arg)
c.1484A>G (p.His495Arg)
7g.70777134A>TCA367669785AUTS2c.32A>T (p.His11Leu)
c.1964A>T (p.His655Leu)
c.62A>T (p.His21Leu)
c.299A>T (p.His100Leu)
c.57A>T
n.632A>T
c.545A>T (p.His182Leu)
c.590A>T (p.His197Leu)
c.1961A>T (p.His654Leu)
c.295A>T
n.275A>T
c.829A>T
c.1892A>T (p.His631Leu)
c.62A>T
n.630A>T
n.461A>T
n.332A>T
c.1220A>T (p.His407Leu)
c.1148A>T (p.His383Leu)
c.611A>T (p.His204Leu)
c.1985A>T (p.His662Leu)
c.1982A>T (p.His661Leu)
c.1919A>T (p.His640Leu)
c.1913A>T (p.His638Leu)
c.1883A>T (p.His628Leu)
c.1721A>T (p.His574Leu)
c.1694A>T (p.His565Leu)
c.1511A>T (p.His504Leu)
c.1484A>T (p.His495Leu)
7g.70777135C>ACA367669786AUTS2c.33C>A (p.His11Gln)
c.1965C>A (p.His655Gln)
c.63C>A (p.His21Gln)
c.300C>A (p.His100Gln)
c.58C>A
n.633C>A
c.546C>A (p.His182Gln)
c.591C>A (p.His197Gln)
c.1962C>A (p.His654Gln)
c.296C>A
n.276C>A
c.830C>A
c.1893C>A (p.His631Gln)
c.63C>A
n.631C>A
n.462C>A
n.333C>A
c.1221C>A (p.His407Gln)
c.1149C>A (p.His383Gln)
c.612C>A (p.His204Gln)
c.1986C>A (p.His662Gln)
c.1983C>A (p.His661Gln)
c.1920C>A (p.His640Gln)
c.1914C>A (p.His638Gln)
c.1884C>A (p.His628Gln)
c.1722C>A (p.His574Gln)
c.1695C>A (p.His565Gln)
c.1512C>A (p.His504Gln)
c.1485C>A (p.His495Gln)
7g.70777135C=CA1716145466AUTS2c.33C= (p.His11=)
c.1965C= (p.His655=)
c.63C= (p.His21=)
c.300C= (p.His100=)
c.58C=
n.633C=
c.546C= (p.His182=)
c.591C= (p.His197=)
c.1962C= (p.His654=)
c.296C=
n.276C=
c.830C=
c.1893C= (p.His631=)
c.63C=
n.631C=
n.462C=
n.333C=
c.1221C= (p.His407=)
c.1149C= (p.His383=)
c.612C= (p.His204=)
c.1986C= (p.His662=)
c.1983C= (p.His661=)
c.1920C= (p.His640=)
c.1914C= (p.His638=)
c.1884C= (p.His628=)
c.1722C= (p.His574=)
c.1695C= (p.His565=)
c.1512C= (p.His504=)
c.1485C= (p.His495=)
7g.70777135C>GCA367669787AUTS2c.33C>G (p.His11Gln)
c.1965C>G (p.His655Gln)
c.63C>G (p.His21Gln)
c.300C>G (p.His100Gln)
c.58C>G
n.633C>G
c.546C>G (p.His182Gln)
c.591C>G (p.His197Gln)
c.1962C>G (p.His654Gln)
c.296C>G
n.276C>G
c.830C>G
c.1893C>G (p.His631Gln)
c.63C>G
n.631C>G
n.462C>G
n.333C>G
c.1221C>G (p.His407Gln)
c.1149C>G (p.His383Gln)
c.612C>G (p.His204Gln)
c.1986C>G (p.His662Gln)
c.1983C>G (p.His661Gln)
c.1920C>G (p.His640Gln)
c.1914C>G (p.His638Gln)
c.1884C>G (p.His628Gln)
c.1722C>G (p.His574Gln)
c.1695C>G (p.His565Gln)
c.1512C>G (p.His504Gln)
c.1485C>G (p.His495Gln)
7g.70777135C>TCA4280861AUTS2c.33C>T (p.His11=)
c.1965C>T (p.His655=)
c.63C>T (p.His21=)
c.300C>T (p.His100=)
c.58C>T
n.633C>T
c.546C>T (p.His182=)
c.591C>T (p.His197=)
c.1962C>T (p.His654=)
c.296C>T
n.276C>T
c.830C>T
c.1893C>T (p.His631=)
c.63C>T
n.631C>T
n.462C>T
n.333C>T
c.1221C>T (p.His407=)
c.1149C>T (p.His383=)
c.612C>T (p.His204=)
c.1986C>T (p.His662=)
c.1983C>T (p.His661=)
c.1920C>T (p.His640=)
c.1914C>T (p.His638=)
c.1884C>T (p.His628=)
c.1722C>T (p.His574=)
c.1695C>T (p.His565=)
c.1512C>T (p.His504=)
c.1485C>T (p.His495=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.70777136A>CCA367669788AUTS2c.34A>C (p.Ile12Leu)
c.1966A>C (p.Ile656Leu)
c.64A>C (p.Ile22Leu)
c.301A>C (p.Ile101Leu)
c.59A>C
n.634A>C
c.547A>C (p.Ile183Leu)
c.592A>C (p.Ile198Leu)
c.1963A>C (p.Ile655Leu)
n.277A>C
c.831A>C
c.1894A>C (p.Ile632Leu)
c.64A>C
n.632A>C
n.463A>C
n.334A>C
c.1222A>C (p.Ile408Leu)
c.1150A>C (p.Ile384Leu)
c.613A>C (p.Ile205Leu)
c.1987A>C (p.Ile663Leu)
c.1984A>C (p.Ile662Leu)
c.1921A>C (p.Ile641Leu)
c.1915A>C (p.Ile639Leu)
c.1885A>C (p.Ile629Leu)
c.1723A>C (p.Ile575Leu)
c.1696A>C (p.Ile566Leu)
c.1513A>C (p.Ile505Leu)
c.1486A>C (p.Ile496Leu)
7g.70777136A>GCA367669789AUTS2c.34A>G (p.Ile12Val)
c.1966A>G (p.Ile656Val)
c.64A>G (p.Ile22Val)
c.301A>G (p.Ile101Val)
c.59A>G
n.634A>G
c.547A>G (p.Ile183Val)
c.592A>G (p.Ile198Val)
c.1963A>G (p.Ile655Val)
n.277A>G
c.831A>G
c.1894A>G (p.Ile632Val)
c.64A>G
n.632A>G
n.463A>G
n.334A>G
c.1222A>G (p.Ile408Val)
c.1150A>G (p.Ile384Val)
c.613A>G (p.Ile205Val)
c.1987A>G (p.Ile663Val)
c.1984A>G (p.Ile662Val)
c.1921A>G (p.Ile641Val)
c.1915A>G (p.Ile639Val)
c.1885A>G (p.Ile629Val)
c.1723A>G (p.Ile575Val)
c.1696A>G (p.Ile566Val)
c.1513A>G (p.Ile505Val)
c.1486A>G (p.Ile496Val)
7g.70777136A>TCA367669790AUTS2c.34A>T (p.Ile12Phe)
c.1966A>T (p.Ile656Phe)
c.64A>T (p.Ile22Phe)
c.301A>T (p.Ile101Phe)
c.59A>T
n.634A>T
c.547A>T (p.Ile183Phe)
c.592A>T (p.Ile198Phe)
c.1963A>T (p.Ile655Phe)
n.277A>T
c.831A>T
c.1894A>T (p.Ile632Phe)
c.64A>T
n.632A>T
n.463A>T
n.334A>T
c.1222A>T (p.Ile408Phe)
c.1150A>T (p.Ile384Phe)
c.613A>T (p.Ile205Phe)
c.1987A>T (p.Ile663Phe)
c.1984A>T (p.Ile662Phe)
c.1921A>T (p.Ile641Phe)
c.1915A>T (p.Ile639Phe)
c.1885A>T (p.Ile629Phe)
c.1723A>T (p.Ile575Phe)
c.1696A>T (p.Ile566Phe)
c.1513A>T (p.Ile505Phe)
c.1486A>T (p.Ile496Phe)
7g.70777137T>ACA367669791AUTS2c.35T>A (p.Ile12Asn)
c.1967T>A (p.Ile656Asn)
c.65T>A (p.Ile22Asn)
c.302T>A (p.Ile101Asn)
c.60T>A
n.635T>A
c.548T>A (p.Ile183Asn)
c.593T>A (p.Ile198Asn)
c.1964T>A (p.Ile655Asn)
n.278T>A
c.832T>A
c.1895T>A (p.Ile632Asn)
c.65T>A
n.633T>A
n.464T>A
n.335T>A
c.1223T>A (p.Ile408Asn)
c.1151T>A (p.Ile384Asn)
c.614T>A (p.Ile205Asn)
c.1988T>A (p.Ile663Asn)
c.1985T>A (p.Ile662Asn)
c.1922T>A (p.Ile641Asn)
c.1916T>A (p.Ile639Asn)
c.1886T>A (p.Ile629Asn)
c.1724T>A (p.Ile575Asn)
c.1697T>A (p.Ile566Asn)
c.1514T>A (p.Ile505Asn)
c.1487T>A (p.Ile496Asn)
7g.70777137T>CCA367669792AUTS2c.35T>C (p.Ile12Thr)
c.1967T>C (p.Ile656Thr)
c.65T>C (p.Ile22Thr)
c.302T>C (p.Ile101Thr)
c.60T>C
n.635T>C
c.548T>C (p.Ile183Thr)
c.593T>C (p.Ile198Thr)
c.1964T>C (p.Ile655Thr)
n.278T>C
c.832T>C
c.1895T>C (p.Ile632Thr)
c.65T>C
n.633T>C
n.464T>C
n.335T>C
c.1223T>C (p.Ile408Thr)
c.1151T>C (p.Ile384Thr)
c.614T>C (p.Ile205Thr)
c.1988T>C (p.Ile663Thr)
c.1985T>C (p.Ile662Thr)
c.1922T>C (p.Ile641Thr)
c.1916T>C (p.Ile639Thr)
c.1886T>C (p.Ile629Thr)
c.1724T>C (p.Ile575Thr)
c.1697T>C (p.Ile566Thr)
c.1514T>C (p.Ile505Thr)
c.1487T>C (p.Ile496Thr)
7g.70777137T>GCA367669793AUTS2c.35T>G (p.Ile12Ser)
c.1967T>G (p.Ile656Ser)
c.65T>G (p.Ile22Ser)
c.302T>G (p.Ile101Ser)
c.60T>G
n.635T>G
c.548T>G (p.Ile183Ser)
c.593T>G (p.Ile198Ser)
c.1964T>G (p.Ile655Ser)
n.278T>G
c.832T>G
c.1895T>G (p.Ile632Ser)
c.65T>G
n.633T>G
n.464T>G
n.335T>G
c.1223T>G (p.Ile408Ser)
c.1151T>G (p.Ile384Ser)
c.614T>G (p.Ile205Ser)
c.1988T>G (p.Ile663Ser)
c.1985T>G (p.Ile662Ser)
c.1922T>G (p.Ile641Ser)
c.1916T>G (p.Ile639Ser)
c.1886T>G (p.Ile629Ser)
c.1724T>G (p.Ile575Ser)
c.1697T>G (p.Ile566Ser)
c.1514T>G (p.Ile505Ser)
c.1487T>G (p.Ile496Ser)
7g.70777138C>ACA4280863AUTS2c.36C>A (p.Ile12=)
c.1968C>A (p.Ile656=)
c.66C>A (p.Ile22=)
c.303C>A (p.Ile101=)
c.61C>A
n.636C>A
c.549C>A (p.Ile183=)
c.594C>A (p.Ile198=)
c.1965C>A (p.Ile655=)
n.279C>A
c.833C>A
c.1896C>A (p.Ile632=)
c.66C>A
n.634C>A
n.465C>A
n.336C>A
c.1224C>A (p.Ile408=)
c.1152C>A (p.Ile384=)
c.615C>A (p.Ile205=)
c.1989C>A (p.Ile663=)
c.1986C>A (p.Ile662=)
c.1923C>A (p.Ile641=)
c.1917C>A (p.Ile639=)
c.1887C>A (p.Ile629=)
c.1725C>A (p.Ile575=)
c.1698C>A (p.Ile566=)
c.1515C>A (p.Ile505=)
c.1488C>A (p.Ile496=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.70777138C=CA1716145477AUTS2c.36C= (p.Ile12=)
c.1968C= (p.Ile656=)
c.66C= (p.Ile22=)
c.303C= (p.Ile101=)
c.61C=
n.636C=
c.549C= (p.Ile183=)
c.594C= (p.Ile198=)
c.1965C= (p.Ile655=)
n.279C=
c.833C=
c.1896C= (p.Ile632=)
c.66C=
n.634C=
n.465C=
n.336C=
c.1224C= (p.Ile408=)
c.1152C= (p.Ile384=)
c.615C= (p.Ile205=)
c.1989C= (p.Ile663=)
c.1986C= (p.Ile662=)
c.1923C= (p.Ile641=)
c.1917C= (p.Ile639=)
c.1887C= (p.Ile629=)
c.1725C= (p.Ile575=)
c.1698C= (p.Ile566=)
c.1515C= (p.Ile505=)
c.1488C= (p.Ile496=)
7g.70777138C>GCA367669794AUTS2c.36C>G (p.Ile12Met)
c.1968C>G (p.Ile656Met)
c.66C>G (p.Ile22Met)
c.303C>G (p.Ile101Met)
c.61C>G
n.636C>G
c.549C>G (p.Ile183Met)
c.594C>G (p.Ile198Met)
c.1965C>G (p.Ile655Met)
n.279C>G
c.833C>G
c.1896C>G (p.Ile632Met)
c.66C>G
n.634C>G
n.465C>G
n.336C>G
c.1224C>G (p.Ile408Met)
c.1152C>G (p.Ile384Met)
c.615C>G (p.Ile205Met)
c.1989C>G (p.Ile663Met)
c.1986C>G (p.Ile662Met)
c.1923C>G (p.Ile641Met)
c.1917C>G (p.Ile639Met)
c.1887C>G (p.Ile629Met)
c.1725C>G (p.Ile575Met)
c.1698C>G (p.Ile566Met)
c.1515C>G (p.Ile505Met)
c.1488C>G (p.Ile496Met)
7g.70777138C>TCA4280862AUTS2c.36C>T (p.Ile12=)
c.1968C>T (p.Ile656=)
c.66C>T (p.Ile22=)
c.303C>T (p.Ile101=)
c.61C>T
n.636C>T
c.549C>T (p.Ile183=)
c.594C>T (p.Ile198=)
c.1965C>T (p.Ile655=)
n.279C>T
c.833C>T
c.1896C>T (p.Ile632=)
c.66C>T
n.634C>T
n.465C>T
n.336C>T
c.1224C>T (p.Ile408=)
c.1152C>T (p.Ile384=)
c.615C>T (p.Ile205=)
c.1989C>T (p.Ile663=)
c.1986C>T (p.Ile662=)
c.1923C>T (p.Ile641=)
c.1917C>T (p.Ile639=)
c.1887C>T (p.Ile629=)
c.1725C>T (p.Ile575=)
c.1698C>T (p.Ile566=)
c.1515C>T (p.Ile505=)
c.1488C>T (p.Ile496=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.70777139G>ACA4280864AUTS2c.37G>A (p.Ala13Thr)
c.1969G>A (p.Ala657Thr)
c.67G>A (p.Ala23Thr)
c.304G>A (p.Ala102Thr)
c.62G>A
n.637G>A
c.550G>A (p.Ala184Thr)
c.595G>A (p.Ala199Thr)
c.1966G>A (p.Ala656Thr)
n.280G>A
c.834G>A
c.1897G>A (p.Ala633Thr)
c.67G>A
n.635G>A
n.466G>A
n.337G>A
c.1225G>A (p.Ala409Thr)
c.1153G>A (p.Ala385Thr)
c.616G>A (p.Ala206Thr)
c.1990G>A (p.Ala664Thr)
c.1987G>A (p.Ala663Thr)
c.1924G>A (p.Ala642Thr)
c.1918G>A (p.Ala640Thr)
c.1888G>A (p.Ala630Thr)
c.1726G>A (p.Ala576Thr)
c.1699G>A (p.Ala567Thr)
c.1516G>A (p.Ala506Thr)
c.1489G>A (p.Ala497Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.70777139G>CCA367669796AUTS2c.37G>C (p.Ala13Pro)
c.1969G>C (p.Ala657Pro)
c.67G>C (p.Ala23Pro)
c.304G>C (p.Ala102Pro)
c.62G>C
n.637G>C
c.550G>C (p.Ala184Pro)
c.595G>C (p.Ala199Pro)
c.1966G>C (p.Ala656Pro)
n.280G>C
c.834G>C
c.1897G>C (p.Ala633Pro)
c.67G>C
n.635G>C
n.466G>C
n.337G>C
c.1225G>C (p.Ala409Pro)
c.1153G>C (p.Ala385Pro)
c.616G>C (p.Ala206Pro)
c.1990G>C (p.Ala664Pro)
c.1987G>C (p.Ala663Pro)
c.1924G>C (p.Ala642Pro)
c.1918G>C (p.Ala640Pro)
c.1888G>C (p.Ala630Pro)
c.1726G>C (p.Ala576Pro)
c.1699G>C (p.Ala567Pro)
c.1516G>C (p.Ala506Pro)
c.1489G>C (p.Ala497Pro)
7g.70777139G=CA1716145484AUTS2c.37G= (p.Ala13=)
c.1969G= (p.Ala657=)
c.67G= (p.Ala23=)
c.304G= (p.Ala102=)
c.62G=
n.637G=
c.550G= (p.Ala184=)
c.595G= (p.Ala199=)
c.1966G= (p.Ala656=)
n.280G=
c.834G=
c.1897G= (p.Ala633=)
c.67G=
n.635G=
n.466G=
n.337G=
c.1225G= (p.Ala409=)
c.1153G= (p.Ala385=)
c.616G= (p.Ala206=)
c.1990G= (p.Ala664=)
c.1987G= (p.Ala663=)
c.1924G= (p.Ala642=)
c.1918G= (p.Ala640=)
c.1888G= (p.Ala630=)
c.1726G= (p.Ala576=)
c.1699G= (p.Ala567=)
c.1516G= (p.Ala506=)
c.1489G= (p.Ala497=)
7g.70777139G>TCA367669795AUTS2c.37G>T (p.Ala13Ser)
c.1969G>T (p.Ala657Ser)
c.67G>T (p.Ala23Ser)
c.304G>T (p.Ala102Ser)
c.62G>T
n.637G>T
c.550G>T (p.Ala184Ser)
c.595G>T (p.Ala199Ser)
c.1966G>T (p.Ala656Ser)
n.280G>T
c.834G>T
c.1897G>T (p.Ala633Ser)
c.67G>T
n.635G>T
n.466G>T
n.337G>T
c.1225G>T (p.Ala409Ser)
c.1153G>T (p.Ala385Ser)
c.616G>T (p.Ala206Ser)
c.1990G>T (p.Ala664Ser)
c.1987G>T (p.Ala663Ser)
c.1924G>T (p.Ala642Ser)
c.1918G>T (p.Ala640Ser)
c.1888G>T (p.Ala630Ser)
c.1726G>T (p.Ala576Ser)
c.1699G>T (p.Ala567Ser)
c.1516G>T (p.Ala506Ser)
c.1489G>T (p.Ala497Ser)
 dbSNP gnomAD v3 gnomAD v4
7g.70777140C>ACA367669797AUTS2c.38C>A (p.Ala13Asp)
c.1970C>A (p.Ala657Asp)
c.68C>A (p.Ala23Asp)
c.305C>A (p.Ala102Asp)
c.63C>A
n.638C>A
c.551C>A (p.Ala184Asp)
c.596C>A (p.Ala199Asp)
c.1967C>A (p.Ala656Asp)
n.281C>A
c.835C>A
c.1898C>A (p.Ala633Asp)
c.68C>A
n.636C>A
n.467C>A
n.338C>A
c.1226C>A (p.Ala409Asp)
c.1154C>A (p.Ala385Asp)
c.617C>A (p.Ala206Asp)
c.1991C>A (p.Ala664Asp)
c.1988C>A (p.Ala663Asp)
c.1925C>A (p.Ala642Asp)
c.1919C>A (p.Ala640Asp)
c.1889C>A (p.Ala630Asp)
c.1727C>A (p.Ala576Asp)
c.1700C>A (p.Ala567Asp)
c.1517C>A (p.Ala506Asp)
c.1490C>A (p.Ala497Asp)
7g.70777140C>GCA367669798AUTS2c.38C>G (p.Ala13Gly)
c.1970C>G (p.Ala657Gly)
c.68C>G (p.Ala23Gly)
c.305C>G (p.Ala102Gly)
c.63C>G
n.638C>G
c.551C>G (p.Ala184Gly)
c.596C>G (p.Ala199Gly)
c.1967C>G (p.Ala656Gly)
n.281C>G
c.835C>G
c.1898C>G (p.Ala633Gly)
c.68C>G
n.636C>G
n.467C>G
n.338C>G
c.1226C>G (p.Ala409Gly)
c.1154C>G (p.Ala385Gly)
c.617C>G (p.Ala206Gly)
c.1991C>G (p.Ala664Gly)
c.1988C>G (p.Ala663Gly)
c.1925C>G (p.Ala642Gly)
c.1919C>G (p.Ala640Gly)
c.1889C>G (p.Ala630Gly)
c.1727C>G (p.Ala576Gly)
c.1700C>G (p.Ala567Gly)
c.1517C>G (p.Ala506Gly)
c.1490C>G (p.Ala497Gly)
7g.70777140C>TCA367669799AUTS2c.38C>T (p.Ala13Val)
c.1970C>T (p.Ala657Val)
c.68C>T (p.Ala23Val)
c.305C>T (p.Ala102Val)
c.63C>T
n.638C>T
c.551C>T (p.Ala184Val)
c.596C>T (p.Ala199Val)
c.1967C>T (p.Ala656Val)
n.281C>T
c.835C>T
c.1898C>T (p.Ala633Val)
c.68C>T
n.636C>T
n.467C>T
n.338C>T
c.1226C>T (p.Ala409Val)
c.1154C>T (p.Ala385Val)
c.617C>T (p.Ala206Val)
c.1991C>T (p.Ala664Val)
c.1988C>T (p.Ala663Val)
c.1925C>T (p.Ala642Val)
c.1919C>T (p.Ala640Val)
c.1889C>T (p.Ala630Val)
c.1727C>T (p.Ala576Val)
c.1700C>T (p.Ala567Val)
c.1517C>T (p.Ala506Val)
c.1490C>T (p.Ala497Val)
7g.70777141C>ACA455803133AUTS2c.39C>A (p.Ala13=)
c.1971C>A (p.Ala657=)
c.69C>A (p.Ala23=)
c.306C>A (p.Ala102=)
c.64C>A
n.639C>A
c.552C>A (p.Ala184=)
c.597C>A (p.Ala199=)
c.1968C>A (p.Ala656=)
n.282C>A
c.836C>A
c.1899C>A (p.Ala633=)
c.69C>A
n.637C>A
n.468C>A
n.339C>A
c.1227C>A (p.Ala409=)
c.1155C>A (p.Ala385=)
c.618C>A (p.Ala206=)
c.1992C>A (p.Ala664=)
c.1989C>A (p.Ala663=)
c.1926C>A (p.Ala642=)
c.1920C>A (p.Ala640=)
c.1890C>A (p.Ala630=)
c.1728C>A (p.Ala576=)
c.1701C>A (p.Ala567=)
c.1518C>A (p.Ala506=)
c.1491C>A (p.Ala497=)
7g.70777141C>GCA455803131AUTS2c.39C>G (p.Ala13=)
c.1971C>G (p.Ala657=)
c.69C>G (p.Ala23=)
c.306C>G (p.Ala102=)
c.64C>G
n.639C>G
c.552C>G (p.Ala184=)
c.597C>G (p.Ala199=)
c.1968C>G (p.Ala656=)
n.282C>G
c.836C>G
c.1899C>G (p.Ala633=)
c.69C>G
n.637C>G
n.468C>G
n.339C>G
c.1227C>G (p.Ala409=)
c.1155C>G (p.Ala385=)
c.618C>G (p.Ala206=)
c.1992C>G (p.Ala664=)
c.1989C>G (p.Ala663=)
c.1926C>G (p.Ala642=)
c.1920C>G (p.Ala640=)
c.1890C>G (p.Ala630=)
c.1728C>G (p.Ala576=)
c.1701C>G (p.Ala567=)
c.1518C>G (p.Ala506=)
c.1491C>G (p.Ala497=)
7g.70777141C>TCA455803132AUTS2c.39C>T (p.Ala13=)
c.1971C>T (p.Ala657=)
c.69C>T (p.Ala23=)
c.306C>T (p.Ala102=)
c.64C>T
n.639C>T
c.552C>T (p.Ala184=)
c.597C>T (p.Ala199=)
c.1968C>T (p.Ala656=)
n.282C>T
c.836C>T
c.1899C>T (p.Ala633=)
c.69C>T
n.637C>T
n.468C>T
n.339C>T
c.1227C>T (p.Ala409=)
c.1155C>T (p.Ala385=)
c.618C>T (p.Ala206=)
c.1992C>T (p.Ala664=)
c.1989C>T (p.Ala663=)
c.1926C>T (p.Ala642=)
c.1920C>T (p.Ala640=)
c.1890C>T (p.Ala630=)
c.1728C>T (p.Ala576=)
c.1701C>T (p.Ala567=)
c.1518C>T (p.Ala506=)
c.1491C>T (p.Ala497=)
7g.70777142T>ACA367669800AUTS2c.40T>A (p.Trp14Arg)
c.1972T>A (p.Trp658Arg)
c.70T>A (p.Trp24Arg)
c.307T>A (p.Trp103Arg)
c.65T>A
n.640T>A
c.553T>A (p.Trp185Arg)
c.598T>A (p.Trp200Arg)
c.1969T>A (p.Trp657Arg)
n.283T>A
c.837T>A
c.1900T>A (p.Trp634Arg)
c.70T>A
n.638T>A
n.469T>A
n.340T>A
c.1228T>A (p.Trp410Arg)
c.1156T>A (p.Trp386Arg)
c.619T>A (p.Trp207Arg)
c.1993T>A (p.Trp665Arg)
c.1990T>A (p.Trp664Arg)
c.1927T>A (p.Trp643Arg)
c.1921T>A (p.Trp641Arg)
c.1891T>A (p.Trp631Arg)
c.1729T>A (p.Trp577Arg)
c.1702T>A (p.Trp568Arg)
c.1519T>A (p.Trp507Arg)
c.1492T>A (p.Trp498Arg)
7g.70777142T>CCA367669801AUTS2c.40T>C (p.Trp14Arg)
c.1972T>C (p.Trp658Arg)
c.70T>C (p.Trp24Arg)
c.307T>C (p.Trp103Arg)
c.65T>C
n.640T>C
c.553T>C (p.Trp185Arg)
c.598T>C (p.Trp200Arg)
c.1969T>C (p.Trp657Arg)
n.283T>C
c.837T>C
c.1900T>C (p.Trp634Arg)
c.70T>C
n.638T>C
n.469T>C
n.340T>C
c.1228T>C (p.Trp410Arg)
c.1156T>C (p.Trp386Arg)
c.619T>C (p.Trp207Arg)
c.1993T>C (p.Trp665Arg)
c.1990T>C (p.Trp664Arg)
c.1927T>C (p.Trp643Arg)
c.1921T>C (p.Trp641Arg)
c.1891T>C (p.Trp631Arg)
c.1729T>C (p.Trp577Arg)
c.1702T>C (p.Trp568Arg)
c.1519T>C (p.Trp507Arg)
c.1492T>C (p.Trp498Arg)
7g.70777142T>GCA367669802AUTS2c.40T>G (p.Trp14Gly)
c.1972T>G (p.Trp658Gly)
c.70T>G (p.Trp24Gly)
c.307T>G (p.Trp103Gly)
c.65T>G
n.640T>G
c.553T>G (p.Trp185Gly)
c.598T>G (p.Trp200Gly)
c.1969T>G (p.Trp657Gly)
n.283T>G
c.837T>G
c.1900T>G (p.Trp634Gly)
c.70T>G
n.638T>G
n.469T>G
n.340T>G
c.1228T>G (p.Trp410Gly)
c.1156T>G (p.Trp386Gly)
c.619T>G (p.Trp207Gly)
c.1993T>G (p.Trp665Gly)
c.1990T>G (p.Trp664Gly)
c.1927T>G (p.Trp643Gly)
c.1921T>G (p.Trp641Gly)
c.1891T>G (p.Trp631Gly)
c.1729T>G (p.Trp577Gly)
c.1702T>G (p.Trp568Gly)
c.1519T>G (p.Trp507Gly)
c.1492T>G (p.Trp498Gly)
7g.70777143G>ACA367669803AUTS2c.41G>A (p.Trp14Ter)
c.1973G>A (p.Trp658Ter)
c.71G>A (p.Trp24Ter)
c.308G>A (p.Trp103Ter)
c.66G>A
n.641G>A
c.554G>A (p.Trp185Ter)
c.599G>A (p.Trp200Ter)
c.1970G>A (p.Trp657Ter)
n.284G>A
c.838G>A
c.1901G>A (p.Trp634Ter)
c.71G>A
n.639G>A
n.470G>A
n.341G>A
c.1229G>A (p.Trp410Ter)
c.1157G>A (p.Trp386Ter)
c.620G>A (p.Trp207Ter)
c.1994G>A (p.Trp665Ter)
c.1991G>A (p.Trp664Ter)
c.1928G>A (p.Trp643Ter)
c.1922G>A (p.Trp641Ter)
c.1892G>A (p.Trp631Ter)
c.1730G>A (p.Trp577Ter)
c.1703G>A (p.Trp568Ter)
c.1520G>A (p.Trp507Ter)
c.1493G>A (p.Trp498Ter)
7g.70777143G>CCA367669804AUTS2c.41G>C (p.Trp14Ser)
c.1973G>C (p.Trp658Ser)
c.71G>C (p.Trp24Ser)
c.308G>C (p.Trp103Ser)
c.66G>C
n.641G>C
c.554G>C (p.Trp185Ser)
c.599G>C (p.Trp200Ser)
c.1970G>C (p.Trp657Ser)
n.284G>C
c.838G>C
c.1901G>C (p.Trp634Ser)
c.71G>C
n.639G>C
n.470G>C
n.341G>C
c.1229G>C (p.Trp410Ser)
c.1157G>C (p.Trp386Ser)
c.620G>C (p.Trp207Ser)
c.1994G>C (p.Trp665Ser)
c.1991G>C (p.Trp664Ser)
c.1928G>C (p.Trp643Ser)
c.1922G>C (p.Trp641Ser)
c.1892G>C (p.Trp631Ser)
c.1730G>C (p.Trp577Ser)
c.1703G>C (p.Trp568Ser)
c.1520G>C (p.Trp507Ser)
c.1493G>C (p.Trp498Ser)
7g.70777143G>TCA367669805AUTS2c.41G>T (p.Trp14Leu)
c.1973G>T (p.Trp658Leu)
c.71G>T (p.Trp24Leu)
c.308G>T (p.Trp103Leu)
c.66G>T
n.641G>T
c.554G>T (p.Trp185Leu)
c.599G>T (p.Trp200Leu)
c.1970G>T (p.Trp657Leu)
n.284G>T
c.838G>T
c.1901G>T (p.Trp634Leu)
c.71G>T
n.639G>T
n.470G>T
n.341G>T
c.1229G>T (p.Trp410Leu)
c.1157G>T (p.Trp386Leu)
c.620G>T (p.Trp207Leu)
c.1994G>T (p.Trp665Leu)
c.1991G>T (p.Trp664Leu)
c.1928G>T (p.Trp643Leu)
c.1922G>T (p.Trp641Leu)
c.1892G>T (p.Trp631Leu)
c.1730G>T (p.Trp577Leu)
c.1703G>T (p.Trp568Leu)
c.1520G>T (p.Trp507Leu)
c.1493G>T (p.Trp498Leu)
7g.70777144G>ACA10602965AUTS2c.42G>A (p.Trp14Ter)
c.1974G>A (p.Trp658Ter)
c.72G>A (p.Trp24Ter)
c.309G>A (p.Trp103Ter)
c.67G>A
n.642G>A
c.555G>A (p.Trp185Ter)
c.600G>A (p.Trp200Ter)
c.1971G>A (p.Trp657Ter)
n.285G>A
c.839G>A
c.1902G>A (p.Trp634Ter)
c.72G>A
n.640G>A
n.471G>A
n.342G>A
c.1230G>A (p.Trp410Ter)
c.1158G>A (p.Trp386Ter)
c.621G>A (p.Trp207Ter)
c.1995G>A (p.Trp665Ter)
c.1992G>A (p.Trp664Ter)
c.1929G>A (p.Trp643Ter)
c.1923G>A (p.Trp641Ter)
c.1893G>A (p.Trp631Ter)
c.1731G>A (p.Trp577Ter)
c.1704G>A (p.Trp568Ter)
c.1521G>A (p.Trp507Ter)
c.1494G>A (p.Trp498Ter)
 ClinVar dbSNP
7g.70777144G>CCA367669806AUTS2c.42G>C (p.Trp14Cys)
c.1974G>C (p.Trp658Cys)
c.72G>C (p.Trp24Cys)
c.309G>C (p.Trp103Cys)
c.67G>C
n.642G>C
c.555G>C (p.Trp185Cys)
c.600G>C (p.Trp200Cys)
c.1971G>C (p.Trp657Cys)
n.285G>C
c.839G>C
c.1902G>C (p.Trp634Cys)
c.72G>C
n.640G>C
n.471G>C
n.342G>C
c.1230G>C (p.Trp410Cys)
c.1158G>C (p.Trp386Cys)
c.621G>C (p.Trp207Cys)
c.1995G>C (p.Trp665Cys)
c.1992G>C (p.Trp664Cys)
c.1929G>C (p.Trp643Cys)
c.1923G>C (p.Trp641Cys)
c.1893G>C (p.Trp631Cys)
c.1731G>C (p.Trp577Cys)
c.1704G>C (p.Trp568Cys)
c.1521G>C (p.Trp507Cys)
c.1494G>C (p.Trp498Cys)
7g.70777144G=CA1716145491AUTS2c.42G= (p.Trp14=)
c.1974G= (p.Trp658=)
c.72G= (p.Trp24=)
c.309G= (p.Trp103=)
c.67G=
n.642G=
c.555G= (p.Trp185=)
c.600G= (p.Trp200=)
c.1971G= (p.Trp657=)
n.285G=
c.839G=
c.1902G= (p.Trp634=)
c.72G=
n.640G=
n.471G=
n.342G=
c.1230G= (p.Trp410=)
c.1158G= (p.Trp386=)
c.621G= (p.Trp207=)
c.1995G= (p.Trp665=)
c.1992G= (p.Trp664=)
c.1929G= (p.Trp643=)
c.1923G= (p.Trp641=)
c.1893G= (p.Trp631=)
c.1731G= (p.Trp577=)
c.1704G= (p.Trp568=)
c.1521G= (p.Trp507=)
c.1494G= (p.Trp498=)
7g.70777144G>TCA367669807AUTS2c.42G>T (p.Trp14Cys)
c.1974G>T (p.Trp658Cys)
c.72G>T (p.Trp24Cys)
c.309G>T (p.Trp103Cys)
c.67G>T
n.642G>T
c.555G>T (p.Trp185Cys)
c.600G>T (p.Trp200Cys)
c.1971G>T (p.Trp657Cys)
n.285G>T
c.839G>T
c.1902G>T (p.Trp634Cys)
c.72G>T
n.640G>T
n.471G>T
n.342G>T
c.1230G>T (p.Trp410Cys)
c.1158G>T (p.Trp386Cys)
c.621G>T (p.Trp207Cys)
c.1995G>T (p.Trp665Cys)
c.1992G>T (p.Trp664Cys)
c.1929G>T (p.Trp643Cys)
c.1923G>T (p.Trp641Cys)
c.1893G>T (p.Trp631Cys)
c.1731G>T (p.Trp577Cys)
c.1704G>T (p.Trp568Cys)
c.1521G>T (p.Trp507Cys)
c.1494G>T (p.Trp498Cys)
7g.70777145C>ACA367669810AUTS2c.43C>A (p.Gln15Lys)
c.1975C>A (p.Gln659Lys)
c.73C>A (p.Gln25Lys)
c.310C>A (p.Gln104Lys)
c.68C>A
n.643C>A
c.556C>A (p.Gln186Lys)
c.601C>A (p.Gln201Lys)
c.1972C>A (p.Gln658Lys)
n.286C>A
c.840C>A
c.1903C>A (p.Gln635Lys)
c.73C>A
n.641C>A
n.472C>A
n.343C>A
c.1231C>A (p.Gln411Lys)
c.1159C>A (p.Gln387Lys)
c.622C>A (p.Gln208Lys)
c.1996C>A (p.Gln666Lys)
c.1993C>A (p.Gln665Lys)
c.1930C>A (p.Gln644Lys)
c.1924C>A (p.Gln642Lys)
c.1894C>A (p.Gln632Lys)
c.1732C>A (p.Gln578Lys)
c.1705C>A (p.Gln569Lys)
c.1522C>A (p.Gln508Lys)
c.1495C>A (p.Gln499Lys)
7g.70777145C>GCA367669808AUTS2c.43C>G (p.Gln15Glu)
c.1975C>G (p.Gln659Glu)
c.73C>G (p.Gln25Glu)
c.310C>G (p.Gln104Glu)
c.68C>G
n.643C>G
c.556C>G (p.Gln186Glu)
c.601C>G (p.Gln201Glu)
c.1972C>G (p.Gln658Glu)
n.286C>G
c.840C>G
c.1903C>G (p.Gln635Glu)
c.73C>G
n.641C>G
n.472C>G
n.343C>G
c.1231C>G (p.Gln411Glu)
c.1159C>G (p.Gln387Glu)
c.622C>G (p.Gln208Glu)
c.1996C>G (p.Gln666Glu)
c.1993C>G (p.Gln665Glu)
c.1930C>G (p.Gln644Glu)
c.1924C>G (p.Gln642Glu)
c.1894C>G (p.Gln632Glu)
c.1732C>G (p.Gln578Glu)
c.1705C>G (p.Gln569Glu)
c.1522C>G (p.Gln508Glu)
c.1495C>G (p.Gln499Glu)
7g.70777145C>TCA367669809AUTS2c.43C>T (p.Gln15Ter)
c.1975C>T (p.Gln659Ter)
c.73C>T (p.Gln25Ter)
c.310C>T (p.Gln104Ter)
c.68C>T
n.643C>T
c.556C>T (p.Gln186Ter)
c.601C>T (p.Gln201Ter)
c.1972C>T (p.Gln658Ter)
n.286C>T
c.840C>T
c.1903C>T (p.Gln635Ter)
c.73C>T
n.641C>T
n.472C>T
n.343C>T
c.1231C>T (p.Gln411Ter)
c.1159C>T (p.Gln387Ter)
c.622C>T (p.Gln208Ter)
c.1996C>T (p.Gln666Ter)
c.1993C>T (p.Gln665Ter)
c.1930C>T (p.Gln644Ter)
c.1924C>T (p.Gln642Ter)
c.1894C>T (p.Gln632Ter)
c.1732C>T (p.Gln578Ter)
c.1705C>T (p.Gln569Ter)
c.1522C>T (p.Gln508Ter)
c.1495C>T (p.Gln499Ter)
7g.70777146A=CA1716145503AUTS2c.44A= (p.Gln15=)
c.1976A= (p.Gln659=)
c.74A= (p.Gln25=)
c.311A= (p.Gln104=)
c.69A=
n.644A=
c.557A= (p.Gln186=)
c.602A= (p.Gln201=)
c.1973A= (p.Gln658=)
n.287A=
c.841A=
c.1904A= (p.Gln635=)
c.74A=
n.642A=
n.473A=
n.344A=
c.1232A= (p.Gln411=)
c.1160A= (p.Gln387=)
c.623A= (p.Gln208=)
c.1997A= (p.Gln666=)
c.1994A= (p.Gln665=)
c.1931A= (p.Gln644=)
c.1925A= (p.Gln642=)
c.1895A= (p.Gln632=)
c.1733A= (p.Gln578=)
c.1706A= (p.Gln569=)
c.1523A= (p.Gln508=)
c.1496A= (p.Gln499=)
7g.70777146A>CCA367669811AUTS2c.44A>C (p.Gln15Pro)
c.1976A>C (p.Gln659Pro)
c.74A>C (p.Gln25Pro)
c.311A>C (p.Gln104Pro)
c.69A>C
n.644A>C
c.557A>C (p.Gln186Pro)
c.602A>C (p.Gln201Pro)
c.1973A>C (p.Gln658Pro)
n.287A>C
c.841A>C
c.1904A>C (p.Gln635Pro)
c.74A>C
n.642A>C
n.473A>C
n.344A>C
c.1232A>C (p.Gln411Pro)
c.1160A>C (p.Gln387Pro)
c.623A>C (p.Gln208Pro)
c.1997A>C (p.Gln666Pro)
c.1994A>C (p.Gln665Pro)
c.1931A>C (p.Gln644Pro)
c.1925A>C (p.Gln642Pro)
c.1895A>C (p.Gln632Pro)
c.1733A>C (p.Gln578Pro)
c.1706A>C (p.Gln569Pro)
c.1523A>C (p.Gln508Pro)
c.1496A>C (p.Gln499Pro)
7g.70777146A>GCA4280865AUTS2c.44A>G (p.Gln15Arg)
c.1976A>G (p.Gln659Arg)
c.74A>G (p.Gln25Arg)
c.311A>G (p.Gln104Arg)
c.69A>G
n.644A>G
c.557A>G (p.Gln186Arg)
c.602A>G (p.Gln201Arg)
c.1973A>G (p.Gln658Arg)
n.287A>G
c.841A>G
c.1904A>G (p.Gln635Arg)
c.74A>G
n.642A>G
n.473A>G
n.344A>G
c.1232A>G (p.Gln411Arg)
c.1160A>G (p.Gln387Arg)
c.623A>G (p.Gln208Arg)
c.1997A>G (p.Gln666Arg)
c.1994A>G (p.Gln665Arg)
c.1931A>G (p.Gln644Arg)
c.1925A>G (p.Gln642Arg)
c.1895A>G (p.Gln632Arg)
c.1733A>G (p.Gln578Arg)
c.1706A>G (p.Gln569Arg)
c.1523A>G (p.Gln508Arg)
c.1496A>G (p.Gln499Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.70777146A>TCA367669812AUTS2c.44A>T (p.Gln15Leu)
c.1976A>T (p.Gln659Leu)
c.74A>T (p.Gln25Leu)
c.311A>T (p.Gln104Leu)
c.69A>T
n.644A>T
c.557A>T (p.Gln186Leu)
c.602A>T (p.Gln201Leu)
c.1973A>T (p.Gln658Leu)
n.287A>T
c.841A>T
c.1904A>T (p.Gln635Leu)
c.74A>T
n.642A>T
n.473A>T
n.344A>T
c.1232A>T (p.Gln411Leu)
c.1160A>T (p.Gln387Leu)
c.623A>T (p.Gln208Leu)
c.1997A>T (p.Gln666Leu)
c.1994A>T (p.Gln665Leu)
c.1931A>T (p.Gln644Leu)
c.1925A>T (p.Gln642Leu)
c.1895A>T (p.Gln632Leu)
c.1733A>T (p.Gln578Leu)
c.1706A>T (p.Gln569Leu)
c.1523A>T (p.Gln508Leu)
c.1496A>T (p.Gln499Leu)
7g.70777147G>ACA455803135AUTS2c.45G>A (p.Gln15=)
c.1977G>A (p.Gln659=)
c.75G>A (p.Gln25=)
c.312G>A (p.Gln104=)
c.70G>A
n.645G>A
c.558G>A (p.Gln186=)
c.603G>A (p.Gln201=)
c.1974G>A (p.Gln658=)
n.288G>A
c.842G>A
c.1905G>A (p.Gln635=)
c.75G>A
n.643G>A
n.474G>A
n.345G>A
c.1233G>A (p.Gln411=)
c.1161G>A (p.Gln387=)
c.624G>A (p.Gln208=)
c.1998G>A (p.Gln666=)
c.1995G>A (p.Gln665=)
c.1932G>A (p.Gln644=)
c.1926G>A (p.Gln642=)
c.1896G>A (p.Gln632=)
c.1734G>A (p.Gln578=)
c.1707G>A (p.Gln569=)
c.1524G>A (p.Gln508=)
c.1497G>A (p.Gln499=)
 gnomAD v4
7g.70777147G>CCA367669813AUTS2c.45G>C (p.Gln15His)
c.1977G>C (p.Gln659His)
c.75G>C (p.Gln25His)
c.312G>C (p.Gln104His)
c.70G>C
n.645G>C
c.558G>C (p.Gln186His)
c.603G>C (p.Gln201His)
c.1974G>C (p.Gln658His)
n.288G>C
c.842G>C
c.1905G>C (p.Gln635His)
c.75G>C
n.643G>C
n.474G>C
n.345G>C
c.1233G>C (p.Gln411His)
c.1161G>C (p.Gln387His)
c.624G>C (p.Gln208His)
c.1998G>C (p.Gln666His)
c.1995G>C (p.Gln665His)
c.1932G>C (p.Gln644His)
c.1926G>C (p.Gln642His)
c.1896G>C (p.Gln632His)
c.1734G>C (p.Gln578His)
c.1707G>C (p.Gln569His)
c.1524G>C (p.Gln508His)
c.1497G>C (p.Gln499His)
7g.70777147G>TCA367669814AUTS2c.45G>T (p.Gln15His)
c.1977G>T (p.Gln659His)
c.75G>T (p.Gln25His)
c.312G>T (p.Gln104His)
c.70G>T
n.645G>T
c.558G>T (p.Gln186His)
c.603G>T (p.Gln201His)
c.1974G>T (p.Gln658His)
n.288G>T
c.842G>T
c.1905G>T (p.Gln635His)
c.75G>T
n.643G>T
n.474G>T
n.345G>T
c.1233G>T (p.Gln411His)
c.1161G>T (p.Gln387His)
c.624G>T (p.Gln208His)
c.1998G>T (p.Gln666His)
c.1995G>T (p.Gln665His)
c.1932G>T (p.Gln644His)
c.1926G>T (p.Gln642His)
c.1896G>T (p.Gln632His)
c.1734G>T (p.Gln578His)
c.1707G>T (p.Gln569His)
c.1524G>T (p.Gln508His)
c.1497G>T (p.Gln499His)
7g.70777148A>CCA367669815AUTS2c.46A>C (p.Ile16Leu)
c.1978A>C (p.Ile660Leu)
c.76A>C (p.Ile26Leu)
c.313A>C (p.Ile105Leu)
c.71A>C
n.646A>C
c.559A>C (p.Ile187Leu)
c.604A>C (p.Ile202Leu)
c.1975A>C (p.Ile659Leu)
n.289A>C
c.843A>C
c.1906A>C (p.Ile636Leu)
c.76A>C
n.644A>C
n.475A>C
n.346A>C
c.1234A>C (p.Ile412Leu)
c.1162A>C (p.Ile388Leu)
c.625A>C (p.Ile209Leu)
c.1999A>C (p.Ile667Leu)
c.1996A>C (p.Ile666Leu)
c.1933A>C (p.Ile645Leu)
c.1927A>C (p.Ile643Leu)
c.1897A>C (p.Ile633Leu)
c.1735A>C (p.Ile579Leu)
c.1708A>C (p.Ile570Leu)
c.1525A>C (p.Ile509Leu)
c.1498A>C (p.Ile500Leu)
7g.70777148A>GCA367669816AUTS2c.46A>G (p.Ile16Val)
c.1978A>G (p.Ile660Val)
c.76A>G (p.Ile26Val)
c.313A>G (p.Ile105Val)
c.71A>G
n.646A>G
c.559A>G (p.Ile187Val)
c.604A>G (p.Ile202Val)
c.1975A>G (p.Ile659Val)
n.289A>G
c.843A>G
c.1906A>G (p.Ile636Val)
c.76A>G
n.644A>G
n.475A>G
n.346A>G
c.1234A>G (p.Ile412Val)
c.1162A>G (p.Ile388Val)
c.625A>G (p.Ile209Val)
c.1999A>G (p.Ile667Val)
c.1996A>G (p.Ile666Val)
c.1933A>G (p.Ile645Val)
c.1927A>G (p.Ile643Val)
c.1897A>G (p.Ile633Val)
c.1735A>G (p.Ile579Val)
c.1708A>G (p.Ile570Val)
c.1525A>G (p.Ile509Val)
c.1498A>G (p.Ile500Val)
7g.70777148A>TCA367669817AUTS2c.46A>T (p.Ile16Phe)
c.1978A>T (p.Ile660Phe)
c.76A>T (p.Ile26Phe)
c.313A>T (p.Ile105Phe)
c.71A>T
n.646A>T
c.559A>T (p.Ile187Phe)
c.604A>T (p.Ile202Phe)
c.1975A>T (p.Ile659Phe)
n.289A>T
c.843A>T
c.1906A>T (p.Ile636Phe)
c.76A>T
n.644A>T
n.475A>T
n.346A>T
c.1234A>T (p.Ile412Phe)
c.1162A>T (p.Ile388Phe)
c.625A>T (p.Ile209Phe)
c.1999A>T (p.Ile667Phe)
c.1996A>T (p.Ile666Phe)
c.1933A>T (p.Ile645Phe)
c.1927A>T (p.Ile643Phe)
c.1897A>T (p.Ile633Phe)
c.1735A>T (p.Ile579Phe)
c.1708A>T (p.Ile570Phe)
c.1525A>T (p.Ile509Phe)
c.1498A>T (p.Ile500Phe)
7g.70777149T>ACA367669818AUTS2c.47T>A (p.Ile16Asn)
c.1979T>A (p.Ile660Asn)
c.77T>A (p.Ile26Asn)
c.314T>A (p.Ile105Asn)
c.72T>A
n.647T>A
c.560T>A (p.Ile187Asn)
c.605T>A (p.Ile202Asn)
c.1976T>A (p.Ile659Asn)
n.290T>A
c.844T>A
c.1907T>A (p.Ile636Asn)
c.77T>A
n.645T>A
n.476T>A
n.347T>A
c.1235T>A (p.Ile412Asn)
c.1163T>A (p.Ile388Asn)
c.626T>A (p.Ile209Asn)
c.2000T>A (p.Ile667Asn)
c.1997T>A (p.Ile666Asn)
c.1934T>A (p.Ile645Asn)
c.1928T>A (p.Ile643Asn)
c.1898T>A (p.Ile633Asn)
c.1736T>A (p.Ile579Asn)
c.1709T>A (p.Ile570Asn)
c.1526T>A (p.Ile509Asn)
c.1499T>A (p.Ile500Asn)
7g.70777149T>CCA367669819AUTS2c.47T>C (p.Ile16Thr)
c.1979T>C (p.Ile660Thr)
c.77T>C (p.Ile26Thr)
c.314T>C (p.Ile105Thr)
c.72T>C
n.647T>C
c.560T>C (p.Ile187Thr)
c.605T>C (p.Ile202Thr)
c.1976T>C (p.Ile659Thr)
n.290T>C
c.844T>C
c.1907T>C (p.Ile636Thr)
c.77T>C
n.645T>C
n.476T>C
n.347T>C
c.1235T>C (p.Ile412Thr)
c.1163T>C (p.Ile388Thr)
c.626T>C (p.Ile209Thr)
c.2000T>C (p.Ile667Thr)
c.1997T>C (p.Ile666Thr)
c.1934T>C (p.Ile645Thr)
c.1928T>C (p.Ile643Thr)
c.1898T>C (p.Ile633Thr)
c.1736T>C (p.Ile579Thr)
c.1709T>C (p.Ile570Thr)
c.1526T>C (p.Ile509Thr)
c.1499T>C (p.Ile500Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.70777149T>GCA367669820AUTS2c.47T>G (p.Ile16Ser)
c.1979T>G (p.Ile660Ser)
c.77T>G (p.Ile26Ser)
c.314T>G (p.Ile105Ser)
c.72T>G
n.647T>G
c.560T>G (p.Ile187Ser)
c.605T>G (p.Ile202Ser)
c.1976T>G (p.Ile659Ser)
n.290T>G
c.844T>G
c.1907T>G (p.Ile636Ser)
c.77T>G
n.645T>G
n.476T>G
n.347T>G
c.1235T>G (p.Ile412Ser)
c.1163T>G (p.Ile388Ser)
c.626T>G (p.Ile209Ser)
c.2000T>G (p.Ile667Ser)
c.1997T>G (p.Ile666Ser)
c.1934T>G (p.Ile645Ser)
c.1928T>G (p.Ile643Ser)
c.1898T>G (p.Ile633Ser)
c.1736T>G (p.Ile579Ser)
c.1709T>G (p.Ile570Ser)
c.1526T>G (p.Ile509Ser)
c.1499T>G (p.Ile500Ser)
7g.70777149T=CA1716145517AUTS2c.47T= (p.Ile16=)
c.1979T= (p.Ile660=)
c.77T= (p.Ile26=)
c.314T= (p.Ile105=)
c.72T=
n.647T=
c.560T= (p.Ile187=)
c.605T= (p.Ile202=)
c.1976T= (p.Ile659=)
n.290T=
c.844T=
c.1907T= (p.Ile636=)
c.77T=
n.645T=
n.476T=
n.347T=
c.1235T= (p.Ile412=)
c.1163T= (p.Ile388=)
c.626T= (p.Ile209=)
c.2000T= (p.Ile667=)
c.1997T= (p.Ile666=)
c.1934T= (p.Ile645=)
c.1928T= (p.Ile643=)
c.1898T= (p.Ile633=)
c.1736T= (p.Ile579=)
c.1709T= (p.Ile570=)
c.1526T= (p.Ile509=)
c.1499T= (p.Ile500=)
7g.70777150T>ACA455803136AUTS2c.48T>A (p.Ile16=)
c.1980T>A (p.Ile660=)
c.78T>A (p.Ile26=)
c.315T>A (p.Ile105=)
c.73T>A
n.648T>A
c.561T>A (p.Ile187=)
c.606T>A (p.Ile202=)
c.1977T>A (p.Ile659=)
n.291T>A
c.845T>A
c.1908T>A (p.Ile636=)
c.78T>A
n.646T>A
n.477T>A
n.348T>A
c.1236T>A (p.Ile412=)
c.1164T>A (p.Ile388=)
c.627T>A (p.Ile209=)
c.2001T>A (p.Ile667=)
c.1998T>A (p.Ile666=)
c.1935T>A (p.Ile645=)
c.1929T>A (p.Ile643=)
c.1899T>A (p.Ile633=)
c.1737T>A (p.Ile579=)
c.1710T>A (p.Ile570=)
c.1527T>A (p.Ile509=)
c.1500T>A (p.Ile500=)
7g.70777150T>CCA455803137AUTS2c.48T>C (p.Ile16=)
c.1980T>C (p.Ile660=)
c.78T>C (p.Ile26=)
c.315T>C (p.Ile105=)
c.73T>C
n.648T>C
c.561T>C (p.Ile187=)
c.606T>C (p.Ile202=)
c.1977T>C (p.Ile659=)
n.291T>C
c.845T>C
c.1908T>C (p.Ile636=)
c.78T>C
n.646T>C
n.477T>C
n.348T>C
c.1236T>C (p.Ile412=)
c.1164T>C (p.Ile388=)
c.627T>C (p.Ile209=)
c.2001T>C (p.Ile667=)
c.1998T>C (p.Ile666=)
c.1935T>C (p.Ile645=)
c.1929T>C (p.Ile643=)
c.1899T>C (p.Ile633=)
c.1737T>C (p.Ile579=)
c.1710T>C (p.Ile570=)
c.1527T>C (p.Ile509=)
c.1500T>C (p.Ile500=)
7g.70777150T>GCA367669821AUTS2c.48T>G (p.Ile16Met)
c.1980T>G (p.Ile660Met)
c.78T>G (p.Ile26Met)
c.315T>G (p.Ile105Met)
c.73T>G
n.648T>G
c.561T>G (p.Ile187Met)
c.606T>G (p.Ile202Met)
c.1977T>G (p.Ile659Met)
n.291T>G
c.845T>G
c.1908T>G (p.Ile636Met)
c.78T>G
n.646T>G
n.477T>G
n.348T>G
c.1236T>G (p.Ile412Met)
c.1164T>G (p.Ile388Met)
c.627T>G (p.Ile209Met)
c.2001T>G (p.Ile667Met)
c.1998T>G (p.Ile666Met)
c.1935T>G (p.Ile645Met)
c.1929T>G (p.Ile643Met)
c.1899T>G (p.Ile633Met)
c.1737T>G (p.Ile579Met)
c.1710T>G (p.Ile570Met)
c.1527T>G (p.Ile509Met)
c.1500T>G (p.Ile500Met)
7g.70777151T>ACA367669823AUTS2c.49T>A (p.Tyr17Asn)
c.1981T>A (p.Tyr661Asn)
c.79T>A (p.Tyr27Asn)
c.316T>A (p.Tyr106Asn)
c.74T>A
n.649T>A
c.562T>A (p.Tyr188Asn)
c.607T>A (p.Tyr203Asn)
c.1978T>A (p.Tyr660Asn)
n.292T>A
c.846T>A
c.1909T>A (p.Tyr637Asn)
c.79T>A
n.647T>A
n.478T>A
n.349T>A
c.1237T>A (p.Tyr413Asn)
c.1165T>A (p.Tyr389Asn)
c.628T>A (p.Tyr210Asn)
c.2002T>A (p.Tyr668Asn)
c.1999T>A (p.Tyr667Asn)
c.1936T>A (p.Tyr646Asn)
c.1930T>A (p.Tyr644Asn)
c.1900T>A (p.Tyr634Asn)
c.1738T>A (p.Tyr580Asn)
c.1711T>A (p.Tyr571Asn)
c.1528T>A (p.Tyr510Asn)
c.1501T>A (p.Tyr501Asn)
7g.70777151T>CCA367669824AUTS2c.49T>C (p.Tyr17His)
c.1981T>C (p.Tyr661His)
c.79T>C (p.Tyr27His)
c.316T>C (p.Tyr106His)
c.74T>C
n.649T>C
c.562T>C (p.Tyr188His)
c.607T>C (p.Tyr203His)
c.1978T>C (p.Tyr660His)
n.292T>C
c.846T>C
c.1909T>C (p.Tyr637His)
c.79T>C
n.647T>C
n.478T>C
n.349T>C
c.1237T>C (p.Tyr413His)
c.1165T>C (p.Tyr389His)
c.628T>C (p.Tyr210His)
c.2002T>C (p.Tyr668His)
c.1999T>C (p.Tyr667His)
c.1936T>C (p.Tyr646His)
c.1930T>C (p.Tyr644His)
c.1900T>C (p.Tyr634His)
c.1738T>C (p.Tyr580His)
c.1711T>C (p.Tyr571His)
c.1528T>C (p.Tyr510His)
c.1501T>C (p.Tyr501His)
7g.70777151T>GCA367669822AUTS2c.49T>G (p.Tyr17Asp)
c.1981T>G (p.Tyr661Asp)
c.79T>G (p.Tyr27Asp)
c.316T>G (p.Tyr106Asp)
c.74T>G
n.649T>G
c.562T>G (p.Tyr188Asp)
c.607T>G (p.Tyr203Asp)
c.1978T>G (p.Tyr660Asp)
n.292T>G
c.846T>G
c.1909T>G (p.Tyr637Asp)
c.79T>G
n.647T>G
n.478T>G
n.349T>G
c.1237T>G (p.Tyr413Asp)
c.1165T>G (p.Tyr389Asp)
c.628T>G (p.Tyr210Asp)
c.2002T>G (p.Tyr668Asp)
c.1999T>G (p.Tyr667Asp)
c.1936T>G (p.Tyr646Asp)
c.1930T>G (p.Tyr644Asp)
c.1900T>G (p.Tyr634Asp)
c.1738T>G (p.Tyr580Asp)
c.1711T>G (p.Tyr571Asp)
c.1528T>G (p.Tyr510Asp)
c.1501T>G (p.Tyr501Asp)
7g.70777152A>CCA367669826AUTS2c.50A>C (p.Tyr17Ser)
c.1982A>C (p.Tyr661Ser)
c.80A>C (p.Tyr27Ser)
c.317A>C (p.Tyr106Ser)
c.75A>C
n.650A>C
c.563A>C (p.Tyr188Ser)
c.608A>C (p.Tyr203Ser)
c.1979A>C (p.Tyr660Ser)
n.293A>C
c.847A>C
c.1910A>C (p.Tyr637Ser)
c.80A>C
n.648A>C
n.479A>C
n.350A>C
c.1238A>C (p.Tyr413Ser)
c.1166A>C (p.Tyr389Ser)
c.629A>C (p.Tyr210Ser)
c.2003A>C (p.Tyr668Ser)
c.2000A>C (p.Tyr667Ser)
c.1937A>C (p.Tyr646Ser)
c.1931A>C (p.Tyr644Ser)
c.1901A>C (p.Tyr634Ser)
c.1739A>C (p.Tyr580Ser)
c.1712A>C (p.Tyr571Ser)
c.1529A>C (p.Tyr510Ser)
c.1502A>C (p.Tyr501Ser)
7g.70777152A>GCA367669825AUTS2c.50A>G (p.Tyr17Cys)
c.1982A>G (p.Tyr661Cys)
c.80A>G (p.Tyr27Cys)
c.317A>G (p.Tyr106Cys)
c.75A>G
n.650A>G
c.563A>G (p.Tyr188Cys)
c.608A>G (p.Tyr203Cys)
c.1979A>G (p.Tyr660Cys)
n.293A>G
c.847A>G
c.1910A>G (p.Tyr637Cys)
c.80A>G
n.648A>G
n.479A>G
n.350A>G
c.1238A>G (p.Tyr413Cys)
c.1166A>G (p.Tyr389Cys)
c.629A>G (p.Tyr210Cys)
c.2003A>G (p.Tyr668Cys)
c.2000A>G (p.Tyr667Cys)
c.1937A>G (p.Tyr646Cys)
c.1931A>G (p.Tyr644Cys)
c.1901A>G (p.Tyr634Cys)
c.1739A>G (p.Tyr580Cys)
c.1712A>G (p.Tyr571Cys)
c.1529A>G (p.Tyr510Cys)
c.1502A>G (p.Tyr501Cys)
 gnomAD v4
7g.70777152A>TCA367669827AUTS2c.50A>T (p.Tyr17Phe)
c.1982A>T (p.Tyr661Phe)
c.80A>T (p.Tyr27Phe)
c.317A>T (p.Tyr106Phe)
c.75A>T
n.650A>T
c.563A>T (p.Tyr188Phe)
c.608A>T (p.Tyr203Phe)
c.1979A>T (p.Tyr660Phe)
n.293A>T
c.847A>T
c.1910A>T (p.Tyr637Phe)
c.80A>T
n.648A>T
n.479A>T
n.350A>T
c.1238A>T (p.Tyr413Phe)
c.1166A>T (p.Tyr389Phe)
c.629A>T (p.Tyr210Phe)
c.2003A>T (p.Tyr668Phe)
c.2000A>T (p.Tyr667Phe)
c.1937A>T (p.Tyr646Phe)
c.1931A>T (p.Tyr644Phe)
c.1901A>T (p.Tyr634Phe)
c.1739A>T (p.Tyr580Phe)
c.1712A>T (p.Tyr571Phe)
c.1529A>T (p.Tyr510Phe)
c.1502A>T (p.Tyr501Phe)
7g.70777159_70777161delCA2580617853AUTS2c.57_59del (p.His19del)
c.1989_1991del (p.His663del)
c.87_89del (p.His29del)
c.324_326del (p.His108del)
c.82_84del
n.657_659del
c.570_572del (p.His190del)
c.615_617del (p.His205del)
c.1986_1988del (p.His662del)
n.300_302del
c.854_856del
c.1917_1919del (p.His639del)
c.87_89del
n.655_657del
n.486_488del
n.357_359del
c.1245_1247del (p.His415del)
c.1173_1175del (p.His391del)
c.636_638del (p.His212del)
c.2010_2012del (p.His670del)
c.2007_2009del (p.His669del)
c.1944_1946del (p.His648del)
c.1938_1940del (p.His646del)
c.1908_1910del (p.His636del)
c.1746_1748del (p.His582del)
c.1719_1721del (p.His573del)
c.1536_1538del (p.His512del)
c.1509_1511del (p.His503del)
 ClinVar
7g.70777153C>ACA367669828AUTS2c.51C>A (p.Tyr17Ter)
c.1983C>A (p.Tyr661Ter)
c.81C>A (p.Tyr27Ter)
c.318C>A (p.Tyr106Ter)
c.76C>A
n.651C>A
c.564C>A (p.Tyr188Ter)
c.609C>A (p.Tyr203Ter)
c.1980C>A (p.Tyr660Ter)
n.294C>A
c.848C>A
c.1911C>A (p.Tyr637Ter)
c.81C>A
n.649C>A
n.480C>A
n.351C>A
c.1239C>A (p.Tyr413Ter)
c.1167C>A (p.Tyr389Ter)
c.630C>A (p.Tyr210Ter)
c.2004C>A (p.Tyr668Ter)
c.2001C>A (p.Tyr667Ter)
c.1938C>A (p.Tyr646Ter)
c.1932C>A (p.Tyr644Ter)
c.1902C>A (p.Tyr634Ter)
c.1740C>A (p.Tyr580Ter)
c.1713C>A (p.Tyr571Ter)
c.1530C>A (p.Tyr510Ter)
c.1503C>A (p.Tyr501Ter)
7g.70777153C>GCA367669829AUTS2c.51C>G (p.Tyr17Ter)
c.1983C>G (p.Tyr661Ter)
c.81C>G (p.Tyr27Ter)
c.318C>G (p.Tyr106Ter)
c.76C>G
n.651C>G
c.564C>G (p.Tyr188Ter)
c.609C>G (p.Tyr203Ter)
c.1980C>G (p.Tyr660Ter)
n.294C>G
c.848C>G
c.1911C>G (p.Tyr637Ter)
c.81C>G
n.649C>G
n.480C>G
n.351C>G
c.1239C>G (p.Tyr413Ter)
c.1167C>G (p.Tyr389Ter)
c.630C>G (p.Tyr210Ter)
c.2004C>G (p.Tyr668Ter)
c.2001C>G (p.Tyr667Ter)
c.1938C>G (p.Tyr646Ter)
c.1932C>G (p.Tyr644Ter)
c.1902C>G (p.Tyr634Ter)
c.1740C>G (p.Tyr580Ter)
c.1713C>G (p.Tyr571Ter)
c.1530C>G (p.Tyr510Ter)
c.1503C>G (p.Tyr501Ter)
7g.70777153C>TCA455803138AUTS2c.51C>T (p.Tyr17=)
c.1983C>T (p.Tyr661=)
c.81C>T (p.Tyr27=)
c.318C>T (p.Tyr106=)
c.76C>T
n.651C>T
c.564C>T (p.Tyr188=)
c.609C>T (p.Tyr203=)
c.1980C>T (p.Tyr660=)
n.294C>T
c.848C>T
c.1911C>T (p.Tyr637=)
c.81C>T
n.649C>T
n.480C>T
n.351C>T
c.1239C>T (p.Tyr413=)
c.1167C>T (p.Tyr389=)
c.630C>T (p.Tyr210=)
c.2004C>T (p.Tyr668=)
c.2001C>T (p.Tyr667=)
c.1938C>T (p.Tyr646=)
c.1932C>T (p.Tyr644=)
c.1902C>T (p.Tyr634=)
c.1740C>T (p.Tyr580=)
c.1713C>T (p.Tyr571=)
c.1530C>T (p.Tyr510=)
c.1503C>T (p.Tyr501=)
7g.70777154C>ACA367669830AUTS2c.52C>A (p.His18Asn)
c.1984C>A (p.His662Asn)
c.82C>A (p.His28Asn)
c.319C>A (p.His107Asn)
c.77C>A
n.652C>A
c.565C>A (p.His189Asn)
c.610C>A (p.His204Asn)
c.1981C>A (p.His661Asn)
n.295C>A
c.849C>A
c.1912C>A (p.His638Asn)
c.82C>A
n.650C>A
n.481C>A
n.352C>A
c.1240C>A (p.His414Asn)
c.1168C>A (p.His390Asn)
c.631C>A (p.His211Asn)
c.2005C>A (p.His669Asn)
c.2002C>A (p.His668Asn)
c.1939C>A (p.His647Asn)
c.1933C>A (p.His645Asn)
c.1903C>A (p.His635Asn)
c.1741C>A (p.His581Asn)
c.1714C>A (p.His572Asn)
c.1531C>A (p.His511Asn)
c.1504C>A (p.His502Asn)
7g.70777154C>GCA367669831AUTS2c.52C>G (p.His18Asp)
c.1984C>G (p.His662Asp)
c.82C>G (p.His28Asp)
c.319C>G (p.His107Asp)
c.77C>G
n.652C>G
c.565C>G (p.His189Asp)
c.610C>G (p.His204Asp)
c.1981C>G (p.His661Asp)
n.295C>G
c.849C>G
c.1912C>G (p.His638Asp)
c.82C>G
n.650C>G
n.481C>G
n.352C>G
c.1240C>G (p.His414Asp)
c.1168C>G (p.His390Asp)
c.631C>G (p.His211Asp)
c.2005C>G (p.His669Asp)
c.2002C>G (p.His668Asp)
c.1939C>G (p.His647Asp)
c.1933C>G (p.His645Asp)
c.1903C>G (p.His635Asp)
c.1741C>G (p.His581Asp)
c.1714C>G (p.His572Asp)
c.1531C>G (p.His511Asp)
c.1504C>G (p.His502Asp)
7g.70777154C>TCA367669832AUTS2c.52C>T (p.His18Tyr)
c.1984C>T (p.His662Tyr)
c.82C>T (p.His28Tyr)
c.319C>T (p.His107Tyr)
c.77C>T
n.652C>T
c.565C>T (p.His189Tyr)
c.610C>T (p.His204Tyr)
c.1981C>T (p.His661Tyr)
n.295C>T
c.849C>T
c.1912C>T (p.His638Tyr)
c.82C>T
n.650C>T
n.481C>T
n.352C>T
c.1240C>T (p.His414Tyr)
c.1168C>T (p.His390Tyr)
c.631C>T (p.His211Tyr)
c.2005C>T (p.His669Tyr)
c.2002C>T (p.His668Tyr)
c.1939C>T (p.His647Tyr)
c.1933C>T (p.His645Tyr)
c.1903C>T (p.His635Tyr)
c.1741C>T (p.His581Tyr)
c.1714C>T (p.His572Tyr)
c.1531C>T (p.His511Tyr)
c.1504C>T (p.His502Tyr)
7g.70777155A>CCA367669833AUTS2c.53A>C (p.His18Pro)
c.1985A>C (p.His662Pro)
c.83A>C (p.His28Pro)
c.320A>C (p.His107Pro)
c.78A>C
n.653A>C
c.566A>C (p.His189Pro)
c.611A>C (p.His204Pro)
c.1982A>C (p.His661Pro)
n.296A>C
c.850A>C
c.1913A>C (p.His638Pro)
c.83A>C
n.651A>C
n.482A>C
n.353A>C
c.1241A>C (p.His414Pro)
c.1169A>C (p.His390Pro)
c.632A>C (p.His211Pro)
c.2006A>C (p.His669Pro)
c.2003A>C (p.His668Pro)
c.1940A>C (p.His647Pro)
c.1934A>C (p.His645Pro)
c.1904A>C (p.His635Pro)
c.1742A>C (p.His581Pro)
c.1715A>C (p.His572Pro)
c.1532A>C (p.His511Pro)
c.1505A>C (p.His502Pro)
7g.70777155A>GCA367669834AUTS2c.53A>G (p.His18Arg)
c.1985A>G (p.His662Arg)
c.83A>G (p.His28Arg)
c.320A>G (p.His107Arg)
c.78A>G
n.653A>G
c.566A>G (p.His189Arg)
c.611A>G (p.His204Arg)
c.1982A>G (p.His661Arg)
n.296A>G
c.850A>G
c.1913A>G (p.His638Arg)
c.83A>G
n.651A>G
n.482A>G
n.353A>G
c.1241A>G (p.His414Arg)
c.1169A>G (p.His390Arg)
c.632A>G (p.His211Arg)
c.2006A>G (p.His669Arg)
c.2003A>G (p.His668Arg)
c.1940A>G (p.His647Arg)
c.1934A>G (p.His645Arg)
c.1904A>G (p.His635Arg)
c.1742A>G (p.His581Arg)
c.1715A>G (p.His572Arg)
c.1532A>G (p.His511Arg)
c.1505A>G (p.His502Arg)
7g.70777155A>TCA367669835AUTS2c.53A>T (p.His18Leu)
c.1985A>T (p.His662Leu)
c.83A>T (p.His28Leu)
c.320A>T (p.His107Leu)
c.78A>T
n.653A>T
c.566A>T (p.His189Leu)
c.611A>T (p.His204Leu)
c.1982A>T (p.His661Leu)
n.296A>T
c.850A>T
c.1913A>T (p.His638Leu)
c.83A>T
n.651A>T
n.482A>T
n.353A>T
c.1241A>T (p.His414Leu)
c.1169A>T (p.His390Leu)
c.632A>T (p.His211Leu)
c.2006A>T (p.His669Leu)
c.2003A>T (p.His668Leu)
c.1940A>T (p.His647Leu)
c.1934A>T (p.His645Leu)
c.1904A>T (p.His635Leu)
c.1742A>T (p.His581Leu)
c.1715A>T (p.His572Leu)
c.1532A>T (p.His511Leu)
c.1505A>T (p.His502Leu)
7g.70777156C>ACA367669836AUTS2c.54C>A (p.His18Gln)
c.1986C>A (p.His662Gln)
c.84C>A (p.His28Gln)
c.321C>A (p.His107Gln)
c.79C>A
n.654C>A
c.567C>A (p.His189Gln)
c.612C>A (p.His204Gln)
c.1983C>A (p.His661Gln)
n.297C>A
c.851C>A
c.1914C>A (p.His638Gln)
c.84C>A
n.652C>A
n.483C>A
n.354C>A
c.1242C>A (p.His414Gln)
c.1170C>A (p.His390Gln)
c.633C>A (p.His211Gln)
c.2007C>A (p.His669Gln)
c.2004C>A (p.His668Gln)
c.1941C>A (p.His647Gln)
c.1935C>A (p.His645Gln)
c.1905C>A (p.His635Gln)
c.1743C>A (p.His581Gln)
c.1716C>A (p.His572Gln)
c.1533C>A (p.His511Gln)
c.1506C>A (p.His502Gln)
7g.70777156C>GCA367669837AUTS2c.54C>G (p.His18Gln)
c.1986C>G (p.His662Gln)
c.84C>G (p.His28Gln)
c.321C>G (p.His107Gln)
c.79C>G
n.654C>G
c.567C>G (p.His189Gln)
c.612C>G (p.His204Gln)
c.1983C>G (p.His661Gln)
n.297C>G
c.851C>G
c.1914C>G (p.His638Gln)
c.84C>G
n.652C>G
n.483C>G
n.354C>G
c.1242C>G (p.His414Gln)
c.1170C>G (p.His390Gln)
c.633C>G (p.His211Gln)
c.2007C>G (p.His669Gln)
c.2004C>G (p.His668Gln)
c.1941C>G (p.His647Gln)
c.1935C>G (p.His645Gln)
c.1905C>G (p.His635Gln)
c.1743C>G (p.His581Gln)
c.1716C>G (p.His572Gln)
c.1533C>G (p.His511Gln)
c.1506C>G (p.His502Gln)
7g.70777156C>TCA455803140AUTS2c.54C>T (p.His18=)
c.1986C>T (p.His662=)
c.84C>T (p.His28=)
c.321C>T (p.His107=)
c.79C>T
n.654C>T
c.567C>T (p.His189=)
c.612C>T (p.His204=)
c.1983C>T (p.His661=)
n.297C>T
c.851C>T
c.1914C>T (p.His638=)
c.84C>T
n.652C>T
n.483C>T
n.354C>T
c.1242C>T (p.His414=)
c.1170C>T (p.His390=)
c.633C>T (p.His211=)
c.2007C>T (p.His669=)
c.2004C>T (p.His668=)
c.1941C>T (p.His647=)
c.1935C>T (p.His645=)
c.1905C>T (p.His635=)
c.1743C>T (p.His581=)
c.1716C>T (p.His572=)
c.1533C>T (p.His511=)
c.1506C>T (p.His502=)
7g.70777157C>ACA367669838AUTS2c.55C>A (p.His19Asn)
c.1987C>A (p.His663Asn)
c.85C>A (p.His29Asn)
c.322C>A (p.His108Asn)
c.80C>A
n.655C>A
c.568C>A (p.His190Asn)
c.613C>A (p.His205Asn)
c.1984C>A (p.His662Asn)
n.298C>A
c.852C>A
c.1915C>A (p.His639Asn)
c.85C>A
n.653C>A
n.484C>A
n.355C>A
c.1243C>A (p.His415Asn)
c.1171C>A (p.His391Asn)
c.634C>A (p.His212Asn)
c.2008C>A (p.His670Asn)
c.2005C>A (p.His669Asn)
c.1942C>A (p.His648Asn)
c.1936C>A (p.His646Asn)
c.1906C>A (p.His636Asn)
c.1744C>A (p.His582Asn)
c.1717C>A (p.His573Asn)
c.1534C>A (p.His512Asn)
c.1507C>A (p.His503Asn)
7g.70777157C>GCA367669839AUTS2c.55C>G (p.His19Asp)
c.1987C>G (p.His663Asp)
c.85C>G (p.His29Asp)
c.322C>G (p.His108Asp)
c.80C>G
n.655C>G
c.568C>G (p.His190Asp)
c.613C>G (p.His205Asp)
c.1984C>G (p.His662Asp)
n.298C>G
c.852C>G
c.1915C>G (p.His639Asp)
c.85C>G
n.653C>G
n.484C>G
n.355C>G
c.1243C>G (p.His415Asp)
c.1171C>G (p.His391Asp)
c.634C>G (p.His212Asp)
c.2008C>G (p.His670Asp)
c.2005C>G (p.His669Asp)
c.1942C>G (p.His648Asp)
c.1936C>G (p.His646Asp)
c.1906C>G (p.His636Asp)
c.1744C>G (p.His582Asp)
c.1717C>G (p.His573Asp)
c.1534C>G (p.His512Asp)
c.1507C>G (p.His503Asp)
7g.70777157C>TCA367669840AUTS2c.55C>T (p.His19Tyr)
c.1987C>T (p.His663Tyr)
c.85C>T (p.His29Tyr)
c.322C>T (p.His108Tyr)
c.80C>T
n.655C>T
c.568C>T (p.His190Tyr)
c.613C>T (p.His205Tyr)
c.1984C>T (p.His662Tyr)
n.298C>T
c.852C>T
c.1915C>T (p.His639Tyr)
c.85C>T
n.653C>T
n.484C>T
n.355C>T
c.1243C>T (p.His415Tyr)
c.1171C>T (p.His391Tyr)
c.634C>T (p.His212Tyr)
c.2008C>T (p.His670Tyr)
c.2005C>T (p.His669Tyr)
c.1942C>T (p.His648Tyr)
c.1936C>T (p.His646Tyr)
c.1906C>T (p.His636Tyr)
c.1744C>T (p.His582Tyr)
c.1717C>T (p.His573Tyr)
c.1534C>T (p.His512Tyr)
c.1507C>T (p.His503Tyr)
 gnomAD v4
7g.70777158A>CCA367669841AUTS2c.56A>C (p.His19Pro)
c.1988A>C (p.His663Pro)
c.86A>C (p.His29Pro)
c.323A>C (p.His108Pro)
c.81A>C
n.656A>C
c.569A>C (p.His190Pro)
c.614A>C (p.His205Pro)
c.1985A>C (p.His662Pro)
n.299A>C
c.853A>C
c.1916A>C (p.His639Pro)
c.86A>C
n.654A>C
n.485A>C
n.356A>C
c.1244A>C (p.His415Pro)
c.1172A>C (p.His391Pro)
c.635A>C (p.His212Pro)
c.2009A>C (p.His670Pro)
c.2006A>C (p.His669Pro)
c.1943A>C (p.His648Pro)
c.1937A>C (p.His646Pro)
c.1907A>C (p.His636Pro)
c.1745A>C (p.His582Pro)
c.1718A>C (p.His573Pro)
c.1535A>C (p.His512Pro)
c.1508A>C (p.His503Pro)
7g.70777158A>GCA367669843AUTS2c.56A>G (p.His19Arg)
c.1988A>G (p.His663Arg)
c.86A>G (p.His29Arg)
c.323A>G (p.His108Arg)
c.81A>G
n.656A>G
c.569A>G (p.His190Arg)
c.614A>G (p.His205Arg)
c.1985A>G (p.His662Arg)
n.299A>G
c.853A>G
c.1916A>G (p.His639Arg)
c.86A>G
n.654A>G
n.485A>G
n.356A>G
c.1244A>G (p.His415Arg)
c.1172A>G (p.His391Arg)
c.635A>G (p.His212Arg)
c.2009A>G (p.His670Arg)
c.2006A>G (p.His669Arg)
c.1943A>G (p.His648Arg)
c.1937A>G (p.His646Arg)
c.1907A>G (p.His636Arg)
c.1745A>G (p.His582Arg)
c.1718A>G (p.His573Arg)
c.1535A>G (p.His512Arg)
c.1508A>G (p.His503Arg)
7g.70777158A>TCA367669842AUTS2c.56A>T (p.His19Leu)
c.1988A>T (p.His663Leu)
c.86A>T (p.His29Leu)
c.323A>T (p.His108Leu)
c.81A>T
n.656A>T
c.569A>T (p.His190Leu)
c.614A>T (p.His205Leu)
c.1985A>T (p.His662Leu)
n.299A>T
c.853A>T
c.1916A>T (p.His639Leu)
c.86A>T
n.654A>T
n.485A>T
n.356A>T
c.1244A>T (p.His415Leu)
c.1172A>T (p.His391Leu)
c.635A>T (p.His212Leu)
c.2009A>T (p.His670Leu)
c.2006A>T (p.His669Leu)
c.1943A>T (p.His648Leu)
c.1937A>T (p.His646Leu)
c.1907A>T (p.His636Leu)
c.1745A>T (p.His582Leu)
c.1718A>T (p.His573Leu)
c.1535A>T (p.His512Leu)
c.1508A>T (p.His503Leu)
7g.70777159C>ACA367669844AUTS2c.57C>A (p.His19Gln)
c.1989C>A (p.His663Gln)
c.87C>A (p.His29Gln)
c.324C>A (p.His108Gln)
c.82C>A
n.657C>A
c.570C>A (p.His190Gln)
c.615C>A (p.His205Gln)
c.1986C>A (p.His662Gln)
n.300C>A
c.854C>A
c.1917C>A (p.His639Gln)
c.87C>A
n.655C>A
n.486C>A
n.357C>A
c.1245C>A (p.His415Gln)
c.1173C>A (p.His391Gln)
c.636C>A (p.His212Gln)
c.2010C>A (p.His670Gln)
c.2007C>A (p.His669Gln)
c.1944C>A (p.His648Gln)
c.1938C>A (p.His646Gln)
c.1908C>A (p.His636Gln)
c.1746C>A (p.His582Gln)
c.1719C>A (p.His573Gln)
c.1536C>A (p.His512Gln)
c.1509C>A (p.His503Gln)
7g.70777159C>GCA367669845AUTS2c.57C>G (p.His19Gln)
c.1989C>G (p.His663Gln)
c.87C>G (p.His29Gln)
c.324C>G (p.His108Gln)
c.82C>G
n.657C>G
c.570C>G (p.His190Gln)
c.615C>G (p.His205Gln)
c.1986C>G (p.His662Gln)
n.300C>G
c.854C>G
c.1917C>G (p.His639Gln)
c.87C>G
n.655C>G
n.486C>G
n.357C>G
c.1245C>G (p.His415Gln)
c.1173C>G (p.His391Gln)
c.636C>G (p.His212Gln)
c.2010C>G (p.His670Gln)
c.2007C>G (p.His669Gln)
c.1944C>G (p.His648Gln)
c.1938C>G (p.His646Gln)
c.1908C>G (p.His636Gln)
c.1746C>G (p.His582Gln)
c.1719C>G (p.His573Gln)
c.1536C>G (p.His512Gln)
c.1509C>G (p.His503Gln)
7g.70777159C>TCA455803143AUTS2c.57C>T (p.His19=)
c.1989C>T (p.His663=)
c.87C>T (p.His29=)
c.324C>T (p.His108=)
c.82C>T
n.657C>T
c.570C>T (p.His190=)
c.615C>T (p.His205=)
c.1986C>T (p.His662=)
n.300C>T
c.854C>T
c.1917C>T (p.His639=)
c.87C>T
n.655C>T
n.486C>T
n.357C>T
c.1245C>T (p.His415=)
c.1173C>T (p.His391=)
c.636C>T (p.His212=)
c.2010C>T (p.His670=)
c.2007C>T (p.His669=)
c.1944C>T (p.His648=)
c.1938C>T (p.His646=)
c.1908C>T (p.His636=)
c.1746C>T (p.His582=)
c.1719C>T (p.His573=)
c.1536C>T (p.His512=)
c.1509C>T (p.His503=)
 gnomAD v4
7g.70777160C>ACA367669846AUTS2c.58C>A (p.Gln20Lys)
c.1990C>A (p.Gln664Lys)
c.88C>A (p.Gln30Lys)
c.325C>A (p.Gln109Lys)
c.83C>A
n.658C>A
c.571C>A (p.Gln191Lys)
c.616C>A (p.Gln206Lys)
c.1987C>A (p.Gln663Lys)
n.301C>A
c.855C>A
c.1918C>A (p.Gln640Lys)
c.88C>A
n.656C>A
n.487C>A
n.358C>A
c.1246C>A (p.Gln416Lys)
c.1174C>A (p.Gln392Lys)
c.637C>A (p.Gln213Lys)
c.2011C>A (p.Gln671Lys)
c.2008C>A (p.Gln670Lys)
c.1945C>A (p.Gln649Lys)
c.1939C>A (p.Gln647Lys)
c.1909C>A (p.Gln637Lys)
c.1747C>A (p.Gln583Lys)
c.1720C>A (p.Gln574Lys)
c.1537C>A (p.Gln513Lys)
c.1510C>A (p.Gln504Lys)
7g.70777160C>GCA367669847AUTS2c.58C>G (p.Gln20Glu)
c.1990C>G (p.Gln664Glu)
c.88C>G (p.Gln30Glu)
c.325C>G (p.Gln109Glu)
c.83C>G
n.658C>G
c.571C>G (p.Gln191Glu)
c.616C>G (p.Gln206Glu)
c.1987C>G (p.Gln663Glu)
n.301C>G
c.855C>G
c.1918C>G (p.Gln640Glu)
c.88C>G
n.656C>G
n.487C>G
n.358C>G
c.1246C>G (p.Gln416Glu)
c.1174C>G (p.Gln392Glu)
c.637C>G (p.Gln213Glu)
c.2011C>G (p.Gln671Glu)
c.2008C>G (p.Gln670Glu)
c.1945C>G (p.Gln649Glu)
c.1939C>G (p.Gln647Glu)
c.1909C>G (p.Gln637Glu)
c.1747C>G (p.Gln583Glu)
c.1720C>G (p.Gln574Glu)
c.1537C>G (p.Gln513Glu)
c.1510C>G (p.Gln504Glu)
7g.70777160C>TCA367669848AUTS2c.58C>T (p.Gln20Ter)
c.1990C>T (p.Gln664Ter)
c.88C>T (p.Gln30Ter)
c.325C>T (p.Gln109Ter)
c.83C>T
n.658C>T
c.571C>T (p.Gln191Ter)
c.616C>T (p.Gln206Ter)
c.1987C>T (p.Gln663Ter)
n.301C>T
c.855C>T
c.1918C>T (p.Gln640Ter)
c.88C>T
n.656C>T
n.487C>T
n.358C>T
c.1246C>T (p.Gln416Ter)
c.1174C>T (p.Gln392Ter)
c.637C>T (p.Gln213Ter)
c.2011C>T (p.Gln671Ter)
c.2008C>T (p.Gln670Ter)
c.1945C>T (p.Gln649Ter)
c.1939C>T (p.Gln647Ter)
c.1909C>T (p.Gln637Ter)
c.1747C>T (p.Gln583Ter)
c.1720C>T (p.Gln574Ter)
c.1537C>T (p.Gln513Ter)
c.1510C>T (p.Gln504Ter)
7g.70777162_70777164dupCA2578902347AUTS2c.60_62dup (p.Gln21_Lys22insGln)
c.1992_1994dup (p.Gln665_Lys666insGln)
c.90_92dup (p.Gln31_Lys32insGln)
c.327_329dup (p.Gln110_Lys111insGln)
c.85_87dup
n.660_662dup
c.573_575dup (p.Gln192_Lys193insGln)
c.618_620dup (p.Gln207_Lys208insGln)
c.1989_1991dup (p.Gln664_Lys665insGln)
n.303_305dup
c.857_859dup
c.1920_1922dup (p.Gln641_Lys642insGln)
c.90_92dup
n.658_660dup
n.489_491dup
n.360_362dup
c.1248_1250dup (p.Gln417_Lys418insGln)
c.1176_1178dup (p.Gln393_Lys394insGln)
c.639_641dup (p.Gln214_Lys215insGln)
c.2013_2015dup (p.Gln672_Lys673insGln)
c.2010_2012dup (p.Gln671_Lys672insGln)
c.1947_1949dup (p.Gln650_Lys651insGln)
c.1941_1943dup (p.Gln648_Lys649insGln)
c.1911_1913dup (p.Gln638_Lys639insGln)
c.1749_1751dup (p.Gln584_Lys585insGln)
c.1722_1724dup (p.Gln575_Lys576insGln)
c.1539_1541dup (p.Gln514_Lys515insGln)
c.1512_1514dup (p.Gln505_Lys506insGln)
7g.70777161A>CCA367669849AUTS2c.59A>C (p.Gln20Pro)
c.1991A>C (p.Gln664Pro)
c.89A>C (p.Gln30Pro)
c.326A>C (p.Gln109Pro)
c.84A>C
n.659A>C
c.572A>C (p.Gln191Pro)
c.617A>C (p.Gln206Pro)
c.1988A>C (p.Gln663Pro)
n.302A>C
c.856A>C
c.1919A>C (p.Gln640Pro)
c.89A>C
n.657A>C
n.488A>C
n.359A>C
c.1247A>C (p.Gln416Pro)
c.1175A>C (p.Gln392Pro)
c.638A>C (p.Gln213Pro)
c.2012A>C (p.Gln671Pro)
c.2009A>C (p.Gln670Pro)
c.1946A>C (p.Gln649Pro)
c.1940A>C (p.Gln647Pro)
c.1910A>C (p.Gln637Pro)
c.1748A>C (p.Gln583Pro)
c.1721A>C (p.Gln574Pro)
c.1538A>C (p.Gln513Pro)
c.1511A>C (p.Gln504Pro)
7g.70777161A>GCA367669850AUTS2c.59A>G (p.Gln20Arg)
c.1991A>G (p.Gln664Arg)
c.89A>G (p.Gln30Arg)
c.326A>G (p.Gln109Arg)
c.84A>G
n.659A>G
c.572A>G (p.Gln191Arg)
c.617A>G (p.Gln206Arg)
c.1988A>G (p.Gln663Arg)
n.302A>G
c.856A>G
c.1919A>G (p.Gln640Arg)
c.89A>G
n.657A>G
n.488A>G
n.359A>G
c.1247A>G (p.Gln416Arg)
c.1175A>G (p.Gln392Arg)
c.638A>G (p.Gln213Arg)
c.2012A>G (p.Gln671Arg)
c.2009A>G (p.Gln670Arg)
c.1946A>G (p.Gln649Arg)
c.1940A>G (p.Gln647Arg)
c.1910A>G (p.Gln637Arg)
c.1748A>G (p.Gln583Arg)
c.1721A>G (p.Gln574Arg)
c.1538A>G (p.Gln513Arg)
c.1511A>G (p.Gln504Arg)
7g.70777161A>TCA367669851AUTS2c.59A>T (p.Gln20Leu)
c.1991A>T (p.Gln664Leu)
c.89A>T (p.Gln30Leu)
c.326A>T (p.Gln109Leu)
c.84A>T
n.659A>T
c.572A>T (p.Gln191Leu)
c.617A>T (p.Gln206Leu)
c.1988A>T (p.Gln663Leu)
n.302A>T
c.856A>T
c.1919A>T (p.Gln640Leu)
c.89A>T
n.657A>T
n.488A>T
n.359A>T
c.1247A>T (p.Gln416Leu)
c.1175A>T (p.Gln392Leu)
c.638A>T (p.Gln213Leu)
c.2012A>T (p.Gln671Leu)
c.2009A>T (p.Gln670Leu)
c.1946A>T (p.Gln649Leu)
c.1940A>T (p.Gln647Leu)
c.1910A>T (p.Gln637Leu)
c.1748A>T (p.Gln583Leu)
c.1721A>T (p.Gln574Leu)
c.1538A>T (p.Gln513Leu)
c.1511A>T (p.Gln504Leu)
7g.70777162A=CA1716145525AUTS2c.60A= (p.Gln20=)
c.1992A= (p.Gln664=)
c.90A= (p.Gln30=)
c.327A= (p.Gln109=)
c.85A=
n.660A=
c.573A= (p.Gln191=)
c.618A= (p.Gln206=)
c.1989A= (p.Gln663=)
n.303A=
c.857A=
c.1920A= (p.Gln640=)
c.90A=
n.658A=
n.489A=
n.360A=
c.1248A= (p.Gln416=)
c.1176A= (p.Gln392=)
c.639A= (p.Gln213=)
c.2013A= (p.Gln671=)
c.2010A= (p.Gln670=)
c.1947A= (p.Gln649=)
c.1941A= (p.Gln647=)
c.1911A= (p.Gln637=)
c.1749A= (p.Gln583=)
c.1722A= (p.Gln574=)
c.1539A= (p.Gln513=)
c.1512A= (p.Gln504=)
7g.70777162A>CCA367669852AUTS2c.60A>C (p.Gln20His)
c.1992A>C (p.Gln664His)
c.90A>C (p.Gln30His)
c.327A>C (p.Gln109His)
c.85A>C
n.660A>C
c.573A>C (p.Gln191His)
c.618A>C (p.Gln206His)
c.1989A>C (p.Gln663His)
n.303A>C
c.857A>C
c.1920A>C (p.Gln640His)
c.90A>C
n.658A>C
n.489A>C
n.360A>C
c.1248A>C (p.Gln416His)
c.1176A>C (p.Gln392His)
c.639A>C (p.Gln213His)
c.2013A>C (p.Gln671His)
c.2010A>C (p.Gln670His)
c.1947A>C (p.Gln649His)
c.1941A>C (p.Gln647His)
c.1911A>C (p.Gln637His)
c.1749A>C (p.Gln583His)
c.1722A>C (p.Gln574His)
c.1539A>C (p.Gln513His)
c.1512A>C (p.Gln504His)
7g.70777162A>GCA455803145AUTS2c.60A>G (p.Gln20=)
c.1992A>G (p.Gln664=)
c.90A>G (p.Gln30=)
c.327A>G (p.Gln109=)
c.85A>G
n.660A>G
c.573A>G (p.Gln191=)
c.618A>G (p.Gln206=)
c.1989A>G (p.Gln663=)
n.303A>G
c.857A>G
c.1920A>G (p.Gln640=)
c.90A>G
n.658A>G
n.489A>G
n.360A>G
c.1248A>G (p.Gln416=)
c.1176A>G (p.Gln392=)
c.639A>G (p.Gln213=)
c.2013A>G (p.Gln671=)
c.2010A>G (p.Gln670=)
c.1947A>G (p.Gln649=)
c.1941A>G (p.Gln647=)
c.1911A>G (p.Gln637=)
c.1749A>G (p.Gln583=)
c.1722A>G (p.Gln574=)
c.1539A>G (p.Gln513=)
c.1512A>G (p.Gln504=)
 dbSNP gnomAD v3 gnomAD v4
7g.70777162A>TCA367669853AUTS2c.60A>T (p.Gln20His)
c.1992A>T (p.Gln664His)
c.90A>T (p.Gln30His)
c.327A>T (p.Gln109His)
c.85A>T
n.660A>T
c.573A>T (p.Gln191His)
c.618A>T (p.Gln206His)
c.1989A>T (p.Gln663His)
n.303A>T
c.857A>T
c.1920A>T (p.Gln640His)
c.90A>T
n.658A>T
n.489A>T
n.360A>T
c.1248A>T (p.Gln416His)
c.1176A>T (p.Gln392His)
c.639A>T (p.Gln213His)
c.2013A>T (p.Gln671His)
c.2010A>T (p.Gln670His)
c.1947A>T (p.Gln649His)
c.1941A>T (p.Gln647His)
c.1911A>T (p.Gln637His)
c.1749A>T (p.Gln583His)
c.1722A>T (p.Gln574His)
c.1539A>T (p.Gln513His)
c.1512A>T (p.Gln504His)
7g.70777163C>ACA367669856AUTS2c.61C>A (p.Gln21Lys)
c.1993C>A (p.Gln665Lys)
c.91C>A (p.Gln31Lys)
c.328C>A (p.Gln110Lys)
c.86C>A
n.661C>A
c.574C>A (p.Gln192Lys)
c.619C>A (p.Gln207Lys)
c.1990C>A (p.Gln664Lys)
n.304C>A
c.858C>A
c.1921C>A (p.Gln641Lys)
c.91C>A
n.659C>A
n.490C>A
n.361C>A
c.1249C>A (p.Gln417Lys)
c.1177C>A (p.Gln393Lys)
c.640C>A (p.Gln214Lys)
c.2014C>A (p.Gln672Lys)
c.2011C>A (p.Gln671Lys)
c.1948C>A (p.Gln650Lys)
c.1942C>A (p.Gln648Lys)
c.1912C>A (p.Gln638Lys)
c.1750C>A (p.Gln584Lys)
c.1723C>A (p.Gln575Lys)
c.1540C>A (p.Gln514Lys)
c.1513C>A (p.Gln505Lys)
7g.70777163C=CA1716145528AUTS2c.61C= (p.Gln21=)
c.1993C= (p.Gln665=)
c.91C= (p.Gln31=)
c.328C= (p.Gln110=)
c.86C=
n.661C=
c.574C= (p.Gln192=)
c.619C= (p.Gln207=)
c.1990C= (p.Gln664=)
n.304C=
c.858C=
c.1921C= (p.Gln641=)
c.91C=
n.659C=
n.490C=
n.361C=
c.1249C= (p.Gln417=)
c.1177C= (p.Gln393=)
c.640C= (p.Gln214=)
c.2014C= (p.Gln672=)
c.2011C= (p.Gln671=)
c.1948C= (p.Gln650=)
c.1942C= (p.Gln648=)
c.1912C= (p.Gln638=)
c.1750C= (p.Gln584=)
c.1723C= (p.Gln575=)
c.1540C= (p.Gln514=)
c.1513C= (p.Gln505=)
7g.70777163C>GCA367669855AUTS2c.61C>G (p.Gln21Glu)
c.1993C>G (p.Gln665Glu)
c.91C>G (p.Gln31Glu)
c.328C>G (p.Gln110Glu)
c.86C>G
n.661C>G
c.574C>G (p.Gln192Glu)
c.619C>G (p.Gln207Glu)
c.1990C>G (p.Gln664Glu)
n.304C>G
c.858C>G
c.1921C>G (p.Gln641Glu)
c.91C>G
n.659C>G
n.490C>G
n.361C>G
c.1249C>G (p.Gln417Glu)
c.1177C>G (p.Gln393Glu)
c.640C>G (p.Gln214Glu)
c.2014C>G (p.Gln672Glu)
c.2011C>G (p.Gln671Glu)
c.1948C>G (p.Gln650Glu)
c.1942C>G (p.Gln648Glu)
c.1912C>G (p.Gln638Glu)
c.1750C>G (p.Gln584Glu)
c.1723C>G (p.Gln575Glu)
c.1540C>G (p.Gln514Glu)
c.1513C>G (p.Gln505Glu)
 dbSNP
7g.70777163C>TCA367669854AUTS2c.61C>T (p.Gln21Ter)
c.1993C>T (p.Gln665Ter)
c.91C>T (p.Gln31Ter)
c.328C>T (p.Gln110Ter)
c.86C>T
n.661C>T
c.574C>T (p.Gln192Ter)
c.619C>T (p.Gln207Ter)
c.1990C>T (p.Gln664Ter)
n.304C>T
c.858C>T
c.1921C>T (p.Gln641Ter)
c.91C>T
n.659C>T
n.490C>T
n.361C>T
c.1249C>T (p.Gln417Ter)
c.1177C>T (p.Gln393Ter)
c.640C>T (p.Gln214Ter)
c.2014C>T (p.Gln672Ter)
c.2011C>T (p.Gln671Ter)
c.1948C>T (p.Gln650Ter)
c.1942C>T (p.Gln648Ter)
c.1912C>T (p.Gln638Ter)
c.1750C>T (p.Gln584Ter)
c.1723C>T (p.Gln575Ter)
c.1540C>T (p.Gln514Ter)
c.1513C>T (p.Gln505Ter)
7g.70777164A>CCA367669857AUTS2c.62A>C (p.Gln21Pro)
c.1994A>C (p.Gln665Pro)
c.92A>C (p.Gln31Pro)
c.329A>C (p.Gln110Pro)
c.87A>C
n.662A>C
c.575A>C (p.Gln192Pro)
c.620A>C (p.Gln207Pro)
c.1991A>C (p.Gln664Pro)
n.305A>C
c.859A>C
c.1922A>C (p.Gln641Pro)
c.92A>C
n.660A>C
n.491A>C
n.362A>C
c.1250A>C (p.Gln417Pro)
c.1178A>C (p.Gln393Pro)
c.641A>C (p.Gln214Pro)
c.2015A>C (p.Gln672Pro)
c.2012A>C (p.Gln671Pro)
c.1949A>C (p.Gln650Pro)
c.1943A>C (p.Gln648Pro)
c.1913A>C (p.Gln638Pro)
c.1751A>C (p.Gln584Pro)
c.1724A>C (p.Gln575Pro)
c.1541A>C (p.Gln514Pro)
c.1514A>C (p.Gln505Pro)
7g.70777164A>GCA367669858AUTS2c.62A>G (p.Gln21Arg)
c.1994A>G (p.Gln665Arg)
c.92A>G (p.Gln31Arg)
c.329A>G (p.Gln110Arg)
c.87A>G
n.662A>G
c.575A>G (p.Gln192Arg)
c.620A>G (p.Gln207Arg)
c.1991A>G (p.Gln664Arg)
n.305A>G
c.859A>G
c.1922A>G (p.Gln641Arg)
c.92A>G
n.660A>G
n.491A>G
n.362A>G
c.1250A>G (p.Gln417Arg)
c.1178A>G (p.Gln393Arg)
c.641A>G (p.Gln214Arg)
c.2015A>G (p.Gln672Arg)
c.2012A>G (p.Gln671Arg)
c.1949A>G (p.Gln650Arg)
c.1943A>G (p.Gln648Arg)
c.1913A>G (p.Gln638Arg)
c.1751A>G (p.Gln584Arg)
c.1724A>G (p.Gln575Arg)
c.1541A>G (p.Gln514Arg)
c.1514A>G (p.Gln505Arg)
 gnomAD v4
7g.70777164A>TCA367669859AUTS2c.62A>T (p.Gln21Leu)
c.1994A>T (p.Gln665Leu)
c.92A>T (p.Gln31Leu)
c.329A>T (p.Gln110Leu)
c.87A>T
n.662A>T
c.575A>T (p.Gln192Leu)
c.620A>T (p.Gln207Leu)
c.1991A>T (p.Gln664Leu)
n.305A>T
c.859A>T
c.1922A>T (p.Gln641Leu)
c.92A>T
n.660A>T
n.491A>T
n.362A>T
c.1250A>T (p.Gln417Leu)
c.1178A>T (p.Gln393Leu)
c.641A>T (p.Gln214Leu)
c.2015A>T (p.Gln672Leu)
c.2012A>T (p.Gln671Leu)
c.1949A>T (p.Gln650Leu)
c.1943A>T (p.Gln648Leu)
c.1913A>T (p.Gln638Leu)
c.1751A>T (p.Gln584Leu)
c.1724A>T (p.Gln575Leu)
c.1541A>T (p.Gln514Leu)
c.1514A>T (p.Gln505Leu)
7g.70777165_70777166delCA2573052910AUTS2c.63_64del (p.Lys22SerfsTer?)
c.1995_1996del (p.Lys666SerfsTer11)
c.93_94del (p.Lys32SerfsTer?)
c.330_331del (p.Lys111SerfsTer11)
c.88_89del
n.663_664del
c.576_577del (p.Lys193SerfsTer11)
c.621_622del (p.Lys208SerfsTer11)
c.1992_1993del (p.Lys665SerfsTer11)
n.306_307del
c.860_861del
c.1923_1924del (p.Lys642SerfsTer11)
c.93_94del
n.661_662del
n.492_493del
n.363_364del
c.1251_1252del (p.Lys418SerfsTer11)
c.1179_1180del (p.Lys394SerfsTer11)
c.642_643del (p.Lys215SerfsTer11)
c.2016_2017del (p.Lys673SerfsTer11)
c.2013_2014del (p.Lys672SerfsTer11)
c.1950_1951del (p.Lys651SerfsTer11)
c.1944_1945del (p.Lys649SerfsTer11)
c.1914_1915del (p.Lys639SerfsTer11)
c.1752_1753del (p.Lys585SerfsTer11)
c.1725_1726del (p.Lys576SerfsTer11)
c.1542_1543del (p.Lys515SerfsTer11)
c.1515_1516del (p.Lys506SerfsTer11)
 ClinVar dbSNP
7g.70777165G>ACA160034313AUTS2c.63G>A (p.Gln21=)
c.1995G>A (p.Gln665=)
c.93G>A (p.Gln31=)
c.330G>A (p.Gln110=)
c.88G>A
n.663G>A
c.576G>A (p.Gln192=)
c.621G>A (p.Gln207=)
c.1992G>A (p.Gln664=)
n.306G>A
c.860G>A
c.1923G>A (p.Gln641=)
c.93G>A
n.661G>A
n.492G>A
n.363G>A
c.1251G>A (p.Gln417=)
c.1179G>A (p.Gln393=)
c.642G>A (p.Gln214=)
c.2016G>A (p.Gln672=)
c.2013G>A (p.Gln671=)
c.1950G>A (p.Gln650=)
c.1944G>A (p.Gln648=)
c.1914G>A (p.Gln638=)
c.1752G>A (p.Gln584=)
c.1725G>A (p.Gln575=)
c.1542G>A (p.Gln514=)
c.1515G>A (p.Gln505=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.70777165G>CCA367669860AUTS2c.63G>C (p.Gln21His)
c.1995G>C (p.Gln665His)
c.93G>C (p.Gln31His)
c.330G>C (p.Gln110His)
c.88G>C
n.663G>C
c.576G>C (p.Gln192His)
c.621G>C (p.Gln207His)
c.1992G>C (p.Gln664His)
n.306G>C
c.860G>C
c.1923G>C (p.Gln641His)
c.93G>C
n.661G>C
n.492G>C
n.363G>C
c.1251G>C (p.Gln417His)
c.1179G>C (p.Gln393His)
c.642G>C (p.Gln214His)
c.2016G>C (p.Gln672His)
c.2013G>C (p.Gln671His)
c.1950G>C (p.Gln650His)
c.1944G>C (p.Gln648His)
c.1914G>C (p.Gln638His)
c.1752G>C (p.Gln584His)
c.1725G>C (p.Gln575His)
c.1542G>C (p.Gln514His)
c.1515G>C (p.Gln505His)
7g.70777165G=CA1716145536AUTS2c.63G= (p.Gln21=)
c.1995G= (p.Gln665=)
c.93G= (p.Gln31=)
c.330G= (p.Gln110=)
c.88G=
n.663G=
c.576G= (p.Gln192=)
c.621G= (p.Gln207=)
c.1992G= (p.Gln664=)
n.306G=
c.860G=
c.1923G= (p.Gln641=)
c.93G=
n.661G=
n.492G=
n.363G=
c.1251G= (p.Gln417=)
c.1179G= (p.Gln393=)
c.642G= (p.Gln214=)
c.2016G= (p.Gln672=)
c.2013G= (p.Gln671=)
c.1950G= (p.Gln650=)
c.1944G= (p.Gln648=)
c.1914G= (p.Gln638=)
c.1752G= (p.Gln584=)
c.1725G= (p.Gln575=)
c.1542G= (p.Gln514=)
c.1515G= (p.Gln505=)
7g.70777165G>TCA367669861AUTS2c.63G>T (p.Gln21His)
c.1995G>T (p.Gln665His)
c.93G>T (p.Gln31His)
c.330G>T (p.Gln110His)
c.88G>T
n.663G>T
c.576G>T (p.Gln192His)
c.621G>T (p.Gln207His)
c.1992G>T (p.Gln664His)
n.306G>T
c.860G>T
c.1923G>T (p.Gln641His)
c.93G>T
n.661G>T
n.492G>T
n.363G>T
c.1251G>T (p.Gln417His)
c.1179G>T (p.Gln393His)
c.642G>T (p.Gln214His)
c.2016G>T (p.Gln672His)
c.2013G>T (p.Gln671His)
c.1950G>T (p.Gln650His)
c.1944G>T (p.Gln648His)
c.1914G>T (p.Gln638His)
c.1752G>T (p.Gln584His)
c.1725G>T (p.Gln575His)
c.1542G>T (p.Gln514His)
c.1515G>T (p.Gln505His)
7g.70777166A=CA1716145541AUTS2c.64A= (p.Lys22=)
c.1996A= (p.Lys666=)
c.94A= (p.Lys32=)
c.331A= (p.Lys111=)
c.89A=
n.664A=
c.577A= (p.Lys193=)
c.622A= (p.Lys208=)
c.1993A= (p.Lys665=)
n.307A=
c.861A=
c.1924A= (p.Lys642=)
c.94A=
n.662A=
n.493A=
n.364A=
c.1252A= (p.Lys418=)
c.1180A= (p.Lys394=)
c.643A= (p.Lys215=)
c.2017A= (p.Lys673=)
c.2014A= (p.Lys672=)
c.1951A= (p.Lys651=)
c.1945A= (p.Lys649=)
c.1915A= (p.Lys639=)
c.1753A= (p.Lys585=)
c.1726A= (p.Lys576=)
c.1543A= (p.Lys515=)
c.1516A= (p.Lys506=)
7g.70777166A>CCA367669862AUTS2c.64A>C (p.Lys22Gln)
c.1996A>C (p.Lys666Gln)
c.94A>C (p.Lys32Gln)
c.331A>C (p.Lys111Gln)
c.89A>C
n.664A>C
c.577A>C (p.Lys193Gln)
c.622A>C (p.Lys208Gln)
c.1993A>C (p.Lys665Gln)
n.307A>C
c.861A>C
c.1924A>C (p.Lys642Gln)
c.94A>C
n.662A>C
n.493A>C
n.364A>C
c.1252A>C (p.Lys418Gln)
c.1180A>C (p.Lys394Gln)
c.643A>C (p.Lys215Gln)
c.2017A>C (p.Lys673Gln)
c.2014A>C (p.Lys672Gln)
c.1951A>C (p.Lys651Gln)
c.1945A>C (p.Lys649Gln)
c.1915A>C (p.Lys639Gln)
c.1753A>C (p.Lys585Gln)
c.1726A>C (p.Lys576Gln)
c.1543A>C (p.Lys515Gln)
c.1516A>C (p.Lys506Gln)
 dbSNP gnomAD v2 gnomAD v4
7g.70777166A>GCA367669863AUTS2c.64A>G (p.Lys22Glu)
c.1996A>G (p.Lys666Glu)
c.94A>G (p.Lys32Glu)
c.331A>G (p.Lys111Glu)
c.89A>G
n.664A>G
c.577A>G (p.Lys193Glu)
c.622A>G (p.Lys208Glu)
c.1993A>G (p.Lys665Glu)
n.307A>G
c.861A>G
c.1924A>G (p.Lys642Glu)
c.94A>G
n.662A>G
n.493A>G
n.364A>G
c.1252A>G (p.Lys418Glu)
c.1180A>G (p.Lys394Glu)
c.643A>G (p.Lys215Glu)
c.2017A>G (p.Lys673Glu)
c.2014A>G (p.Lys672Glu)
c.1951A>G (p.Lys651Glu)
c.1945A>G (p.Lys649Glu)
c.1915A>G (p.Lys639Glu)
c.1753A>G (p.Lys585Glu)
c.1726A>G (p.Lys576Glu)
c.1543A>G (p.Lys515Glu)
c.1516A>G (p.Lys506Glu)
7g.70777166A>TCA367669864AUTS2c.64A>T (p.Lys22Ter)
c.1996A>T (p.Lys666Ter)
c.94A>T (p.Lys32Ter)
c.331A>T (p.Lys111Ter)
c.89A>T
n.664A>T
c.577A>T (p.Lys193Ter)
c.622A>T (p.Lys208Ter)
c.1993A>T (p.Lys665Ter)
n.307A>T
c.861A>T
c.1924A>T (p.Lys642Ter)
c.94A>T
n.662A>T
n.493A>T
n.364A>T
c.1252A>T (p.Lys418Ter)
c.1180A>T (p.Lys394Ter)
c.643A>T (p.Lys215Ter)
c.2017A>T (p.Lys673Ter)
c.2014A>T (p.Lys672Ter)
c.1951A>T (p.Lys651Ter)
c.1945A>T (p.Lys649Ter)
c.1915A>T (p.Lys639Ter)
c.1753A>T (p.Lys585Ter)
c.1726A>T (p.Lys576Ter)
c.1543A>T (p.Lys515Ter)
c.1516A>T (p.Lys506Ter)
7g.70777167A>CCA367669865AUTS2c.65A>C (p.Lys22Thr)
c.1997A>C (p.Lys666Thr)
c.95A>C (p.Lys32Thr)
c.332A>C (p.Lys111Thr)
c.90A>C
n.665A>C
c.578A>C (p.Lys193Thr)
c.623A>C (p.Lys208Thr)
c.1994A>C (p.Lys665Thr)
n.308A>C
c.862A>C
c.1925A>C (p.Lys642Thr)
c.95A>C
n.663A>C
n.494A>C
n.365A>C
c.1253A>C (p.Lys418Thr)
c.1181A>C (p.Lys394Thr)
c.644A>C (p.Lys215Thr)
c.2018A>C (p.Lys673Thr)
c.2015A>C (p.Lys672Thr)
c.1952A>C (p.Lys651Thr)
c.1946A>C (p.Lys649Thr)
c.1916A>C (p.Lys639Thr)
c.1754A>C (p.Lys585Thr)
c.1727A>C (p.Lys576Thr)
c.1544A>C (p.Lys515Thr)
c.1517A>C (p.Lys506Thr)
7g.70777167A>GCA367669866AUTS2c.65A>G (p.Lys22Arg)
c.1997A>G (p.Lys666Arg)
c.95A>G (p.Lys32Arg)
c.332A>G (p.Lys111Arg)
c.90A>G
n.665A>G
c.578A>G (p.Lys193Arg)
c.623A>G (p.Lys208Arg)
c.1994A>G (p.Lys665Arg)
n.308A>G
c.862A>G
c.1925A>G (p.Lys642Arg)
c.95A>G
n.663A>G
n.494A>G
n.365A>G
c.1253A>G (p.Lys418Arg)
c.1181A>G (p.Lys394Arg)
c.644A>G (p.Lys215Arg)
c.2018A>G (p.Lys673Arg)
c.2015A>G (p.Lys672Arg)
c.1952A>G (p.Lys651Arg)
c.1946A>G (p.Lys649Arg)
c.1916A>G (p.Lys639Arg)
c.1754A>G (p.Lys585Arg)
c.1727A>G (p.Lys576Arg)
c.1544A>G (p.Lys515Arg)
c.1517A>G (p.Lys506Arg)
7g.70777167A>TCA367669867AUTS2c.65A>T (p.Lys22Ile)
c.1997A>T (p.Lys666Ile)
c.95A>T (p.Lys32Ile)
c.332A>T (p.Lys111Ile)
c.90A>T
n.665A>T
c.578A>T (p.Lys193Ile)
c.623A>T (p.Lys208Ile)
c.1994A>T (p.Lys665Ile)
n.308A>T
c.862A>T
c.1925A>T (p.Lys642Ile)
c.95A>T
n.663A>T
n.494A>T
n.365A>T
c.1253A>T (p.Lys418Ile)
c.1181A>T (p.Lys394Ile)
c.644A>T (p.Lys215Ile)
c.2018A>T (p.Lys673Ile)
c.2015A>T (p.Lys672Ile)
c.1952A>T (p.Lys651Ile)
c.1946A>T (p.Lys649Ile)
c.1916A>T (p.Lys639Ile)
c.1754A>T (p.Lys585Ile)
c.1727A>T (p.Lys576Ile)
c.1544A>T (p.Lys515Ile)
c.1517A>T (p.Lys506Ile)
7g.70777168A>CCA367669868AUTS2c.66A>C (p.Lys22Asn)
c.1998A>C (p.Lys666Asn)
c.96A>C (p.Lys32Asn)
c.333A>C (p.Lys111Asn)
c.91A>C
n.666A>C
c.579A>C (p.Lys193Asn)
c.624A>C (p.Lys208Asn)
c.1995A>C (p.Lys665Asn)
n.309A>C
c.863A>C
c.1926A>C (p.Lys642Asn)
c.96A>C
n.664A>C
n.495A>C
n.366A>C
c.1254A>C (p.Lys418Asn)
c.1182A>C (p.Lys394Asn)
c.645A>C (p.Lys215Asn)
c.2019A>C (p.Lys673Asn)
c.2016A>C (p.Lys672Asn)
c.1953A>C (p.Lys651Asn)
c.1947A>C (p.Lys649Asn)
c.1917A>C (p.Lys639Asn)
c.1755A>C (p.Lys585Asn)
c.1728A>C (p.Lys576Asn)
c.1545A>C (p.Lys515Asn)
c.1518A>C (p.Lys506Asn)
7g.70777168A>GCA455803146AUTS2c.66A>G (p.Lys22=)
c.1998A>G (p.Lys666=)
c.96A>G (p.Lys32=)
c.333A>G (p.Lys111=)
c.91A>G
n.666A>G
c.579A>G (p.Lys193=)
c.624A>G (p.Lys208=)
c.1995A>G (p.Lys665=)
n.309A>G
c.863A>G
c.1926A>G (p.Lys642=)
c.96A>G
n.664A>G
n.495A>G
n.366A>G
c.1254A>G (p.Lys418=)
c.1182A>G (p.Lys394=)
c.645A>G (p.Lys215=)
c.2019A>G (p.Lys673=)
c.2016A>G (p.Lys672=)
c.1953A>G (p.Lys651=)
c.1947A>G (p.Lys649=)
c.1917A>G (p.Lys639=)
c.1755A>G (p.Lys585=)
c.1728A>G (p.Lys576=)
c.1545A>G (p.Lys515=)
c.1518A>G (p.Lys506=)
7g.70777168A>TCA367669869AUTS2c.66A>T (p.Lys22Asn)
c.1998A>T (p.Lys666Asn)
c.96A>T (p.Lys32Asn)
c.333A>T (p.Lys111Asn)
c.91A>T
n.666A>T
c.579A>T (p.Lys193Asn)
c.624A>T (p.Lys208Asn)
c.1995A>T (p.Lys665Asn)
n.309A>T
c.863A>T
c.1926A>T (p.Lys642Asn)
c.96A>T
n.664A>T
n.495A>T
n.366A>T
c.1254A>T (p.Lys418Asn)
c.1182A>T (p.Lys394Asn)
c.645A>T (p.Lys215Asn)
c.2019A>T (p.Lys673Asn)
c.2016A>T (p.Lys672Asn)
c.1953A>T (p.Lys651Asn)
c.1947A>T (p.Lys649Asn)
c.1917A>T (p.Lys639Asn)
c.1755A>T (p.Lys585Asn)
c.1728A>T (p.Lys576Asn)
c.1545A>T (p.Lys515Asn)
c.1518A>T (p.Lys506Asn)

Number of alleles fetched