Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.46014229_46014240delCA2638369987MAPTc.829-14_829-3del (n.829-14_829-3del)
c.742-14_742-3del (n.742-14_742-3del)
c.916-14_916-3del (n.916-14_916-3del)
n.687-14_687-3del
n.142-14_142-3del
n.85-14_85-3del
c.2092-14_2092-3del (n.2092-14_2092-3del)
c.1801-14_1801-3del (n.1801-14_1801-3del)
c.736-14_736-3del (n.736-14_736-3del)
c.1867-14_1867-3del (n.1867-14_1867-3del)
c.649-14_649-3del (n.649-14_649-3del)
c.1921-14_1921-3del (n.1921-14_1921-3del)
c.823-14_823-3del (n.823-14_823-3del)
n.777-4389_777-4378del
n.6108-14_6108-3del
c.2179-14_2179-3del (n.2179-14_2179-3del)
c.2086-14_2086-3del (n.2086-14_2086-3del)
c.2005-14_2005-3del (n.2005-14_2005-3del)
c.1981-14_1981-3del (n.1981-14_1981-3del)
c.1888-14_1888-3del (n.1888-14_1888-3del)
c.1114-14_1114-3del (n.1114-14_1114-3del)
c.1027-14_1027-3del (n.1027-14_1027-3del)
c.940-14_940-3del (n.940-14_940-3del)
n.747-14_747-3del
 gnomAD v4
17g.46014238T>CCA2638370049MAPTc.829-5T>C (n.829-5T>C)
c.742-5T>C (n.742-5T>C)
c.916-5T>C (n.916-5T>C)
n.687-5T>C
n.142-5T>C
n.85-5T>C
c.2092-5T>C (n.2092-5T>C)
c.1801-5T>C (n.1801-5T>C)
c.736-5T>C (n.736-5T>C)
c.1867-5T>C (n.1867-5T>C)
c.649-5T>C (n.649-5T>C)
c.1921-5T>C (n.1921-5T>C)
c.823-5T>C (n.823-5T>C)
n.777-4380T>C
n.6108-5T>C
c.2179-5T>C (n.2179-5T>C)
c.2086-5T>C (n.2086-5T>C)
c.2005-5T>C (n.2005-5T>C)
c.1981-5T>C (n.1981-5T>C)
c.1888-5T>C (n.1888-5T>C)
c.1114-5T>C (n.1114-5T>C)
c.1027-5T>C (n.1027-5T>C)
c.940-5T>C (n.940-5T>C)
n.747-5T>C
 gnomAD v4
17g.46014239C>ACA2638370053MAPTc.829-4C>A (n.829-4C>A)
c.742-4C>A (n.742-4C>A)
c.916-4C>A (n.916-4C>A)
n.687-4C>A
n.142-4C>A
n.85-4C>A
c.2092-4C>A (n.2092-4C>A)
c.1801-4C>A (n.1801-4C>A)
c.736-4C>A (n.736-4C>A)
c.1867-4C>A (n.1867-4C>A)
c.649-4C>A (n.649-4C>A)
c.1921-4C>A (n.1921-4C>A)
c.823-4C>A (n.823-4C>A)
n.777-4379C>A
n.6108-4C>A
c.2179-4C>A (n.2179-4C>A)
c.2086-4C>A (n.2086-4C>A)
c.2005-4C>A (n.2005-4C>A)
c.1981-4C>A (n.1981-4C>A)
c.1888-4C>A (n.1888-4C>A)
c.1114-4C>A (n.1114-4C>A)
c.1027-4C>A (n.1027-4C>A)
c.940-4C>A (n.940-4C>A)
n.747-4C>A
 gnomAD v4
17g.46014239C>GCA2638370054MAPTc.829-4C>G (n.829-4C>G)
c.742-4C>G (n.742-4C>G)
c.916-4C>G (n.916-4C>G)
n.687-4C>G
n.142-4C>G
n.85-4C>G
c.2092-4C>G (n.2092-4C>G)
c.1801-4C>G (n.1801-4C>G)
c.736-4C>G (n.736-4C>G)
c.1867-4C>G (n.1867-4C>G)
c.649-4C>G (n.649-4C>G)
c.1921-4C>G (n.1921-4C>G)
c.823-4C>G (n.823-4C>G)
n.777-4379C>G
n.6108-4C>G
c.2179-4C>G (n.2179-4C>G)
c.2086-4C>G (n.2086-4C>G)
c.2005-4C>G (n.2005-4C>G)
c.1981-4C>G (n.1981-4C>G)
c.1888-4C>G (n.1888-4C>G)
c.1114-4C>G (n.1114-4C>G)
c.1027-4C>G (n.1027-4C>G)
c.940-4C>G (n.940-4C>G)
n.747-4C>G
 gnomAD v4
17g.46014240delCA2638370052MAPTc.829-3del (n.829-3del)
c.742-3del (n.742-3del)
c.916-3del (n.916-3del)
n.687-3del
n.142-3del
n.85-3del
c.2092-3del (n.2092-3del)
c.1801-3del (n.1801-3del)
c.736-3del (n.736-3del)
c.1867-3del (n.1867-3del)
c.649-3del (n.649-3del)
c.1921-3del (n.1921-3del)
c.823-3del (n.823-3del)
n.777-4378del
n.6108-3del
c.2179-3del (n.2179-3del)
c.2086-3del (n.2086-3del)
c.2005-3del (n.2005-3del)
c.1981-3del (n.1981-3del)
c.1888-3del (n.1888-3del)
c.1114-3del (n.1114-3del)
c.1027-3del (n.1027-3del)
c.940-3del (n.940-3del)
n.747-3del
 gnomAD v4
17g.46014241A>CCA399983410MAPTc.829-2A>C (n.829-2A>C)
c.742-2A>C (n.742-2A>C)
c.916-2A>C (n.916-2A>C)
n.687-2A>C
n.142-2A>C
n.85-2A>C
c.2092-2A>C (n.2092-2A>C)
c.1801-2A>C (n.1801-2A>C)
c.736-2A>C (n.736-2A>C)
c.1867-2A>C (n.1867-2A>C)
c.649-2A>C (n.649-2A>C)
c.1921-2A>C (n.1921-2A>C)
c.823-2A>C (n.823-2A>C)
n.777-4377A>C
n.6108-2A>C
c.2179-2A>C (n.2179-2A>C)
c.2086-2A>C (n.2086-2A>C)
c.2005-2A>C (n.2005-2A>C)
c.1981-2A>C (n.1981-2A>C)
c.1888-2A>C (n.1888-2A>C)
c.1114-2A>C (n.1114-2A>C)
c.1027-2A>C (n.1027-2A>C)
c.940-2A>C (n.940-2A>C)
n.747-2A>C
17g.46014241A>GCA399983412MAPTc.829-2A>G (n.829-2A>G)
c.742-2A>G (n.742-2A>G)
c.916-2A>G (n.916-2A>G)
n.687-2A>G
n.142-2A>G
n.85-2A>G
c.2092-2A>G (n.2092-2A>G)
c.1801-2A>G (n.1801-2A>G)
c.736-2A>G (n.736-2A>G)
c.1867-2A>G (n.1867-2A>G)
c.649-2A>G (n.649-2A>G)
c.1921-2A>G (n.1921-2A>G)
c.823-2A>G (n.823-2A>G)
n.777-4377A>G
n.6108-2A>G
c.2179-2A>G (n.2179-2A>G)
c.2086-2A>G (n.2086-2A>G)
c.2005-2A>G (n.2005-2A>G)
c.1981-2A>G (n.1981-2A>G)
c.1888-2A>G (n.1888-2A>G)
c.1114-2A>G (n.1114-2A>G)
c.1027-2A>G (n.1027-2A>G)
c.940-2A>G (n.940-2A>G)
n.747-2A>G
17g.46014241A>TCA399983411MAPTc.829-2A>T (n.829-2A>T)
c.742-2A>T (n.742-2A>T)
c.916-2A>T (n.916-2A>T)
n.687-2A>T
n.142-2A>T
n.85-2A>T
c.2092-2A>T (n.2092-2A>T)
c.1801-2A>T (n.1801-2A>T)
c.736-2A>T (n.736-2A>T)
c.1867-2A>T (n.1867-2A>T)
c.649-2A>T (n.649-2A>T)
c.1921-2A>T (n.1921-2A>T)
c.823-2A>T (n.823-2A>T)
n.777-4377A>T
n.6108-2A>T
c.2179-2A>T (n.2179-2A>T)
c.2086-2A>T (n.2086-2A>T)
c.2005-2A>T (n.2005-2A>T)
c.1981-2A>T (n.1981-2A>T)
c.1888-2A>T (n.1888-2A>T)
c.1114-2A>T (n.1114-2A>T)
c.1027-2A>T (n.1027-2A>T)
c.940-2A>T (n.940-2A>T)
n.747-2A>T
17g.46014242G>ACA399983413MAPTc.829-1G>A (n.829-1G>A)
c.742-1G>A (n.742-1G>A)
c.916-1G>A (n.916-1G>A)
n.687-1G>A
n.142-1G>A
n.85-1G>A
c.2092-1G>A (n.2092-1G>A)
c.1801-1G>A (n.1801-1G>A)
c.736-1G>A (n.736-1G>A)
c.1867-1G>A (n.1867-1G>A)
c.649-1G>A (n.649-1G>A)
c.1921-1G>A (n.1921-1G>A)
c.823-1G>A (n.823-1G>A)
n.777-4376G>A
n.6108-1G>A
c.2179-1G>A (n.2179-1G>A)
c.2086-1G>A (n.2086-1G>A)
c.2005-1G>A (n.2005-1G>A)
c.1981-1G>A (n.1981-1G>A)
c.1888-1G>A (n.1888-1G>A)
c.1114-1G>A (n.1114-1G>A)
c.1027-1G>A (n.1027-1G>A)
c.940-1G>A (n.940-1G>A)
n.747-1G>A
17g.46014242G>CCA399983414MAPTc.829-1G>C (n.829-1G>C)
c.742-1G>C (n.742-1G>C)
c.916-1G>C (n.916-1G>C)
n.687-1G>C
n.142-1G>C
n.85-1G>C
c.2092-1G>C (n.2092-1G>C)
c.1801-1G>C (n.1801-1G>C)
c.736-1G>C (n.736-1G>C)
c.1867-1G>C (n.1867-1G>C)
c.649-1G>C (n.649-1G>C)
c.1921-1G>C (n.1921-1G>C)
c.823-1G>C (n.823-1G>C)
n.777-4376G>C
n.6108-1G>C
c.2179-1G>C (n.2179-1G>C)
c.2086-1G>C (n.2086-1G>C)
c.2005-1G>C (n.2005-1G>C)
c.1981-1G>C (n.1981-1G>C)
c.1888-1G>C (n.1888-1G>C)
c.1114-1G>C (n.1114-1G>C)
c.1027-1G>C (n.1027-1G>C)
c.940-1G>C (n.940-1G>C)
n.747-1G>C
17g.46014242G>TCA399983415MAPTc.829-1G>T (n.829-1G>T)
c.742-1G>T (n.742-1G>T)
c.916-1G>T (n.916-1G>T)
n.687-1G>T
n.142-1G>T
n.85-1G>T
c.2092-1G>T (n.2092-1G>T)
c.1801-1G>T (n.1801-1G>T)
c.736-1G>T (n.736-1G>T)
c.1867-1G>T (n.1867-1G>T)
c.649-1G>T (n.649-1G>T)
c.1921-1G>T (n.1921-1G>T)
c.823-1G>T (n.823-1G>T)
n.777-4376G>T
n.6108-1G>T
c.2179-1G>T (n.2179-1G>T)
c.2086-1G>T (n.2086-1G>T)
c.2005-1G>T (n.2005-1G>T)
c.1981-1G>T (n.1981-1G>T)
c.1888-1G>T (n.1888-1G>T)
c.1114-1G>T (n.1114-1G>T)
c.1027-1G>T (n.1027-1G>T)
c.940-1G>T (n.940-1G>T)
n.747-1G>T
17g.46014243G>ACA399983416MAPTc.829G>A (p.Val277Met)
c.742G>A (p.Val248Met)
c.916G>A (p.Val306Met)
n.687G>A
n.142G>A
n.85G>A
c.2092G>A (p.Val698Met)
c.1801G>A (p.Val601Met)
c.736G>A (p.Val246Met)
c.1867G>A (p.Val623Met)
c.649G>A (p.Val217Met)
c.1921G>A (p.Val641Met)
c.823G>A (p.Val275Met)
n.777-4375G>A
n.6108G>A
c.2179G>A (p.Val727Met)
c.2086G>A (p.Val696Met)
c.2005G>A (p.Val669Met)
c.1981G>A (p.Val661Met)
c.1888G>A (p.Val630Met)
c.1114G>A (p.Val372Met)
c.1027G>A (p.Val343Met)
c.940G>A (p.Val314Met)
n.747G>A
17g.46014243G>CCA399983417MAPTc.829G>C (p.Val277Leu)
c.742G>C (p.Val248Leu)
c.916G>C (p.Val306Leu)
n.687G>C
n.142G>C
n.85G>C
c.2092G>C (p.Val698Leu)
c.1801G>C (p.Val601Leu)
c.736G>C (p.Val246Leu)
c.1867G>C (p.Val623Leu)
c.649G>C (p.Val217Leu)
c.1921G>C (p.Val641Leu)
c.823G>C (p.Val275Leu)
n.777-4375G>C
n.6108G>C
c.2179G>C (p.Val727Leu)
c.2086G>C (p.Val696Leu)
c.2005G>C (p.Val669Leu)
c.1981G>C (p.Val661Leu)
c.1888G>C (p.Val630Leu)
c.1114G>C (p.Val372Leu)
c.1027G>C (p.Val343Leu)
c.940G>C (p.Val314Leu)
n.747G>C
17g.46014243G>TCA399983418MAPTc.829G>T (p.Val277Leu)
c.742G>T (p.Val248Leu)
c.916G>T (p.Val306Leu)
n.687G>T
n.142G>T
n.85G>T
c.2092G>T (p.Val698Leu)
c.1801G>T (p.Val601Leu)
c.736G>T (p.Val246Leu)
c.1867G>T (p.Val623Leu)
c.649G>T (p.Val217Leu)
c.1921G>T (p.Val641Leu)
c.823G>T (p.Val275Leu)
n.777-4375G>T
n.6108G>T
c.2179G>T (p.Val727Leu)
c.2086G>T (p.Val696Leu)
c.2005G>T (p.Val669Leu)
c.1981G>T (p.Val661Leu)
c.1888G>T (p.Val630Leu)
c.1114G>T (p.Val372Leu)
c.1027G>T (p.Val343Leu)
c.940G>T (p.Val314Leu)
n.747G>T
17g.46014244T>ACA399983419MAPTc.830T>A (p.Val277Glu)
c.743T>A (p.Val248Glu)
c.917T>A (p.Val306Glu)
n.688T>A
n.143T>A
n.86T>A
c.2093T>A (p.Val698Glu)
c.1802T>A (p.Val601Glu)
c.737T>A (p.Val246Glu)
c.1868T>A (p.Val623Glu)
c.650T>A (p.Val217Glu)
c.1922T>A (p.Val641Glu)
c.824T>A (p.Val275Glu)
n.777-4374T>A
n.6109T>A
c.2180T>A (p.Val727Glu)
c.2087T>A (p.Val696Glu)
c.2006T>A (p.Val669Glu)
c.1982T>A (p.Val661Glu)
c.1889T>A (p.Val630Glu)
c.1115T>A (p.Val372Glu)
c.1028T>A (p.Val343Glu)
c.941T>A (p.Val314Glu)
n.748T>A
17g.46014244T>CCA399983420MAPTc.830T>C (p.Val277Ala)
c.743T>C (p.Val248Ala)
c.917T>C (p.Val306Ala)
n.688T>C
n.143T>C
n.86T>C
c.2093T>C (p.Val698Ala)
c.1802T>C (p.Val601Ala)
c.737T>C (p.Val246Ala)
c.1868T>C (p.Val623Ala)
c.650T>C (p.Val217Ala)
c.1922T>C (p.Val641Ala)
c.824T>C (p.Val275Ala)
n.777-4374T>C
n.6109T>C
c.2180T>C (p.Val727Ala)
c.2087T>C (p.Val696Ala)
c.2006T>C (p.Val669Ala)
c.1982T>C (p.Val661Ala)
c.1889T>C (p.Val630Ala)
c.1115T>C (p.Val372Ala)
c.1028T>C (p.Val343Ala)
c.941T>C (p.Val314Ala)
n.748T>C
17g.46014244T>GCA399983421MAPTc.830T>G (p.Val277Gly)
c.743T>G (p.Val248Gly)
c.917T>G (p.Val306Gly)
n.688T>G
n.143T>G
n.86T>G
c.2093T>G (p.Val698Gly)
c.1802T>G (p.Val601Gly)
c.737T>G (p.Val246Gly)
c.1868T>G (p.Val623Gly)
c.650T>G (p.Val217Gly)
c.1922T>G (p.Val641Gly)
c.824T>G (p.Val275Gly)
n.777-4374T>G
n.6109T>G
c.2180T>G (p.Val727Gly)
c.2087T>G (p.Val696Gly)
c.2006T>G (p.Val669Gly)
c.1982T>G (p.Val661Gly)
c.1889T>G (p.Val630Gly)
c.1115T>G (p.Val372Gly)
c.1028T>G (p.Val343Gly)
c.941T>G (p.Val314Gly)
n.748T>G
17g.46014245G>ACA500371158MAPTc.831G>A (p.Val277=)
c.744G>A (p.Val248=)
c.918G>A (p.Val306=)
n.689G>A
n.144G>A
n.87G>A
c.2094G>A (p.Val698=)
c.1803G>A (p.Val601=)
c.738G>A (p.Val246=)
c.1869G>A (p.Val623=)
c.651G>A (p.Val217=)
c.1923G>A (p.Val641=)
c.825G>A (p.Val275=)
n.777-4373G>A
n.6110G>A
c.2181G>A (p.Val727=)
c.2088G>A (p.Val696=)
c.2007G>A (p.Val669=)
c.1983G>A (p.Val661=)
c.1890G>A (p.Val630=)
c.1116G>A (p.Val372=)
c.1029G>A (p.Val343=)
c.942G>A (p.Val314=)
n.749G>A
 gnomAD v4
17g.46014245G>CCA500371157MAPTc.831G>C (p.Val277=)
c.744G>C (p.Val248=)
c.918G>C (p.Val306=)
n.689G>C
n.144G>C
n.87G>C
c.2094G>C (p.Val698=)
c.1803G>C (p.Val601=)
c.738G>C (p.Val246=)
c.1869G>C (p.Val623=)
c.651G>C (p.Val217=)
c.1923G>C (p.Val641=)
c.825G>C (p.Val275=)
n.777-4373G>C
n.6110G>C
c.2181G>C (p.Val727=)
c.2088G>C (p.Val696=)
c.2007G>C (p.Val669=)
c.1983G>C (p.Val661=)
c.1890G>C (p.Val630=)
c.1116G>C (p.Val372=)
c.1029G>C (p.Val343=)
c.942G>C (p.Val314=)
n.749G>C
17g.46014245G>TCA500371159MAPTc.831G>T (p.Val277=)
c.744G>T (p.Val248=)
c.918G>T (p.Val306=)
n.689G>T
n.144G>T
n.87G>T
c.2094G>T (p.Val698=)
c.1803G>T (p.Val601=)
c.738G>T (p.Val246=)
c.1869G>T (p.Val623=)
c.651G>T (p.Val217=)
c.1923G>T (p.Val641=)
c.825G>T (p.Val275=)
n.777-4373G>T
n.6110G>T
c.2181G>T (p.Val727=)
c.2088G>T (p.Val696=)
c.2007G>T (p.Val669=)
c.1983G>T (p.Val661=)
c.1890G>T (p.Val630=)
c.1116G>T (p.Val372=)
c.1029G>T (p.Val343=)
c.942G>T (p.Val314=)
n.749G>T
17g.46014246C>ACA399983422MAPTc.832C>A (p.Gln278Lys)
c.745C>A (p.Gln249Lys)
c.919C>A (p.Gln307Lys)
n.690C>A
n.145C>A
n.88C>A
c.2095C>A (p.Gln699Lys)
c.1804C>A (p.Gln602Lys)
c.739C>A (p.Gln247Lys)
c.1870C>A (p.Gln624Lys)
c.652C>A (p.Gln218Lys)
c.1924C>A (p.Gln642Lys)
c.826C>A (p.Gln276Lys)
n.777-4372C>A
n.6111C>A
c.2182C>A (p.Gln728Lys)
c.2089C>A (p.Gln697Lys)
c.2008C>A (p.Gln670Lys)
c.1984C>A (p.Gln662Lys)
c.1891C>A (p.Gln631Lys)
c.1117C>A (p.Gln373Lys)
c.1030C>A (p.Gln344Lys)
c.943C>A (p.Gln315Lys)
n.750C>A
 gnomAD v4
17g.46014246C>GCA399983423MAPTc.832C>G (p.Gln278Glu)
c.745C>G (p.Gln249Glu)
c.919C>G (p.Gln307Glu)
n.690C>G
n.145C>G
n.88C>G
c.2095C>G (p.Gln699Glu)
c.1804C>G (p.Gln602Glu)
c.739C>G (p.Gln247Glu)
c.1870C>G (p.Gln624Glu)
c.652C>G (p.Gln218Glu)
c.1924C>G (p.Gln642Glu)
c.826C>G (p.Gln276Glu)
n.777-4372C>G
n.6111C>G
c.2182C>G (p.Gln728Glu)
c.2089C>G (p.Gln697Glu)
c.2008C>G (p.Gln670Glu)
c.1984C>G (p.Gln662Glu)
c.1891C>G (p.Gln631Glu)
c.1117C>G (p.Gln373Glu)
c.1030C>G (p.Gln344Glu)
c.943C>G (p.Gln315Glu)
n.750C>G
17g.46014246C>TCA399983424MAPTc.832C>T (p.Gln278Ter)
c.745C>T (p.Gln249Ter)
c.919C>T (p.Gln307Ter)
n.690C>T
n.145C>T
n.88C>T
c.2095C>T (p.Gln699Ter)
c.1804C>T (p.Gln602Ter)
c.739C>T (p.Gln247Ter)
c.1870C>T (p.Gln624Ter)
c.652C>T (p.Gln218Ter)
c.1924C>T (p.Gln642Ter)
c.826C>T (p.Gln276Ter)
n.777-4372C>T
n.6111C>T
c.2182C>T (p.Gln728Ter)
c.2089C>T (p.Gln697Ter)
c.2008C>T (p.Gln670Ter)
c.1984C>T (p.Gln662Ter)
c.1891C>T (p.Gln631Ter)
c.1117C>T (p.Gln373Ter)
c.1030C>T (p.Gln344Ter)
c.943C>T (p.Gln315Ter)
n.750C>T
 gnomAD v4
17g.46014247A>CCA399983425MAPTc.833A>C (p.Gln278Pro)
c.746A>C (p.Gln249Pro)
c.920A>C (p.Gln307Pro)
n.691A>C
n.146A>C
n.89A>C
c.2096A>C (p.Gln699Pro)
c.1805A>C (p.Gln602Pro)
c.740A>C (p.Gln247Pro)
c.1871A>C (p.Gln624Pro)
c.653A>C (p.Gln218Pro)
c.1925A>C (p.Gln642Pro)
c.827A>C (p.Gln276Pro)
n.777-4371A>C
n.6112A>C
c.2183A>C (p.Gln728Pro)
c.2090A>C (p.Gln697Pro)
c.2009A>C (p.Gln670Pro)
c.1985A>C (p.Gln662Pro)
c.1892A>C (p.Gln631Pro)
c.1118A>C (p.Gln373Pro)
c.1031A>C (p.Gln344Pro)
c.944A>C (p.Gln315Pro)
n.751A>C
17g.46014247A>GCA399983427MAPTc.833A>G (p.Gln278Arg)
c.746A>G (p.Gln249Arg)
c.920A>G (p.Gln307Arg)
n.691A>G
n.146A>G
n.89A>G
c.2096A>G (p.Gln699Arg)
c.1805A>G (p.Gln602Arg)
c.740A>G (p.Gln247Arg)
c.1871A>G (p.Gln624Arg)
c.653A>G (p.Gln218Arg)
c.1925A>G (p.Gln642Arg)
c.827A>G (p.Gln276Arg)
n.777-4371A>G
n.6112A>G
c.2183A>G (p.Gln728Arg)
c.2090A>G (p.Gln697Arg)
c.2009A>G (p.Gln670Arg)
c.1985A>G (p.Gln662Arg)
c.1892A>G (p.Gln631Arg)
c.1118A>G (p.Gln373Arg)
c.1031A>G (p.Gln344Arg)
c.944A>G (p.Gln315Arg)
n.751A>G
17g.46014247A>TCA399983426MAPTc.833A>T (p.Gln278Leu)
c.746A>T (p.Gln249Leu)
c.920A>T (p.Gln307Leu)
n.691A>T
n.146A>T
n.89A>T
c.2096A>T (p.Gln699Leu)
c.1805A>T (p.Gln602Leu)
c.740A>T (p.Gln247Leu)
c.1871A>T (p.Gln624Leu)
c.653A>T (p.Gln218Leu)
c.1925A>T (p.Gln642Leu)
c.827A>T (p.Gln276Leu)
n.777-4371A>T
n.6112A>T
c.2183A>T (p.Gln728Leu)
c.2090A>T (p.Gln697Leu)
c.2009A>T (p.Gln670Leu)
c.1985A>T (p.Gln662Leu)
c.1892A>T (p.Gln631Leu)
c.1118A>T (p.Gln373Leu)
c.1031A>T (p.Gln344Leu)
c.944A>T (p.Gln315Leu)
n.751A>T
17g.46014248A>CCA399983428MAPTc.834A>C (p.Gln278His)
c.747A>C (p.Gln249His)
c.921A>C (p.Gln307His)
n.692A>C
n.147A>C
n.90A>C
c.2097A>C (p.Gln699His)
c.1806A>C (p.Gln602His)
c.741A>C (p.Gln247His)
c.1872A>C (p.Gln624His)
c.654A>C (p.Gln218His)
c.1926A>C (p.Gln642His)
c.828A>C (p.Gln276His)
n.777-4370A>C
n.6113A>C
c.2184A>C (p.Gln728His)
c.2091A>C (p.Gln697His)
c.2010A>C (p.Gln670His)
c.1986A>C (p.Gln662His)
c.1893A>C (p.Gln631His)
c.1119A>C (p.Gln373His)
c.1032A>C (p.Gln344His)
c.945A>C (p.Gln315His)
n.752A>C
 ClinVar
17g.46014248A>GCA500371160MAPTc.834A>G (p.Gln278=)
c.747A>G (p.Gln249=)
c.921A>G (p.Gln307=)
n.692A>G
n.147A>G
n.90A>G
c.2097A>G (p.Gln699=)
c.1806A>G (p.Gln602=)
c.741A>G (p.Gln247=)
c.1872A>G (p.Gln624=)
c.654A>G (p.Gln218=)
c.1926A>G (p.Gln642=)
c.828A>G (p.Gln276=)
n.777-4370A>G
n.6113A>G
c.2184A>G (p.Gln728=)
c.2091A>G (p.Gln697=)
c.2010A>G (p.Gln670=)
c.1986A>G (p.Gln662=)
c.1893A>G (p.Gln631=)
c.1119A>G (p.Gln373=)
c.1032A>G (p.Gln344=)
c.945A>G (p.Gln315=)
n.752A>G
17g.46014248A>TCA399983429MAPTc.834A>T (p.Gln278His)
c.747A>T (p.Gln249His)
c.921A>T (p.Gln307His)
n.692A>T
n.147A>T
n.90A>T
c.2097A>T (p.Gln699His)
c.1806A>T (p.Gln602His)
c.741A>T (p.Gln247His)
c.1872A>T (p.Gln624His)
c.654A>T (p.Gln218His)
c.1926A>T (p.Gln642His)
c.828A>T (p.Gln276His)
n.777-4370A>T
n.6113A>T
c.2184A>T (p.Gln728His)
c.2091A>T (p.Gln697His)
c.2010A>T (p.Gln670His)
c.1986A>T (p.Gln662His)
c.1893A>T (p.Gln631His)
c.1119A>T (p.Gln373His)
c.1032A>T (p.Gln344His)
c.945A>T (p.Gln315His)
n.752A>T
17g.46014249A>CCA399983430MAPTc.835A>C (p.Ile279Leu)
c.748A>C (p.Ile250Leu)
c.922A>C (p.Ile308Leu)
n.693A>C
n.148A>C
n.91A>C
c.2098A>C (p.Ile700Leu)
c.1807A>C (p.Ile603Leu)
c.742A>C (p.Ile248Leu)
c.1873A>C (p.Ile625Leu)
c.655A>C (p.Ile219Leu)
c.1927A>C (p.Ile643Leu)
c.829A>C (p.Ile277Leu)
n.777-4369A>C
n.6114A>C
c.2185A>C (p.Ile729Leu)
c.2092A>C (p.Ile698Leu)
c.2011A>C (p.Ile671Leu)
c.1987A>C (p.Ile663Leu)
c.1894A>C (p.Ile632Leu)
c.1120A>C (p.Ile374Leu)
c.1033A>C (p.Ile345Leu)
c.946A>C (p.Ile316Leu)
n.753A>C
17g.46014249A>GCA399983431MAPTc.835A>G (p.Ile279Val)
c.748A>G (p.Ile250Val)
c.922A>G (p.Ile308Val)
n.693A>G
n.148A>G
n.91A>G
c.2098A>G (p.Ile700Val)
c.1807A>G (p.Ile603Val)
c.742A>G (p.Ile248Val)
c.1873A>G (p.Ile625Val)
c.655A>G (p.Ile219Val)
c.1927A>G (p.Ile643Val)
c.829A>G (p.Ile277Val)
n.777-4369A>G
n.6114A>G
c.2185A>G (p.Ile729Val)
c.2092A>G (p.Ile698Val)
c.2011A>G (p.Ile671Val)
c.1987A>G (p.Ile663Val)
c.1894A>G (p.Ile632Val)
c.1120A>G (p.Ile374Val)
c.1033A>G (p.Ile345Val)
c.946A>G (p.Ile316Val)
n.753A>G
17g.46014249A>TCA399983432MAPTc.835A>T (p.Ile279Leu)
c.748A>T (p.Ile250Leu)
c.922A>T (p.Ile308Leu)
n.693A>T
n.148A>T
n.91A>T
c.2098A>T (p.Ile700Leu)
c.1807A>T (p.Ile603Leu)
c.742A>T (p.Ile248Leu)
c.1873A>T (p.Ile625Leu)
c.655A>T (p.Ile219Leu)
c.1927A>T (p.Ile643Leu)
c.829A>T (p.Ile277Leu)
n.777-4369A>T
n.6114A>T
c.2185A>T (p.Ile729Leu)
c.2092A>T (p.Ile698Leu)
c.2011A>T (p.Ile671Leu)
c.1987A>T (p.Ile663Leu)
c.1894A>T (p.Ile632Leu)
c.1120A>T (p.Ile374Leu)
c.1033A>T (p.Ile345Leu)
c.946A>T (p.Ile316Leu)
n.753A>T
17g.46014250T>ACA399983433MAPTc.836T>A (p.Ile279Lys)
c.749T>A (p.Ile250Lys)
c.923T>A (p.Ile308Lys)
n.694T>A
n.149T>A
n.92T>A
c.2099T>A (p.Ile700Lys)
c.1808T>A (p.Ile603Lys)
c.743T>A (p.Ile248Lys)
c.1874T>A (p.Ile625Lys)
c.656T>A (p.Ile219Lys)
c.1928T>A (p.Ile643Lys)
c.830T>A (p.Ile277Lys)
n.777-4368T>A
n.6115T>A
c.2186T>A (p.Ile729Lys)
c.2093T>A (p.Ile698Lys)
c.2012T>A (p.Ile671Lys)
c.1988T>A (p.Ile663Lys)
c.1895T>A (p.Ile632Lys)
c.1121T>A (p.Ile374Lys)
c.1034T>A (p.Ile345Lys)
c.947T>A (p.Ile316Lys)
n.754T>A
17g.46014250T>CCA399983434MAPTc.836T>C (p.Ile279Thr)
c.749T>C (p.Ile250Thr)
c.923T>C (p.Ile308Thr)
n.694T>C
n.149T>C
n.92T>C
c.2099T>C (p.Ile700Thr)
c.1808T>C (p.Ile603Thr)
c.743T>C (p.Ile248Thr)
c.1874T>C (p.Ile625Thr)
c.656T>C (p.Ile219Thr)
c.1928T>C (p.Ile643Thr)
c.830T>C (p.Ile277Thr)
n.777-4368T>C
n.6115T>C
c.2186T>C (p.Ile729Thr)
c.2093T>C (p.Ile698Thr)
c.2012T>C (p.Ile671Thr)
c.1988T>C (p.Ile663Thr)
c.1895T>C (p.Ile632Thr)
c.1121T>C (p.Ile374Thr)
c.1034T>C (p.Ile345Thr)
c.947T>C (p.Ile316Thr)
n.754T>C
 dbSNP
17g.46014250T>GCA291112269MAPTc.836T>G (p.Ile279Arg)
c.749T>G (p.Ile250Arg)
c.923T>G (p.Ile308Arg)
n.694T>G
n.149T>G
n.92T>G
c.2099T>G (p.Ile700Arg)
c.1808T>G (p.Ile603Arg)
c.743T>G (p.Ile248Arg)
c.1874T>G (p.Ile625Arg)
c.656T>G (p.Ile219Arg)
c.1928T>G (p.Ile643Arg)
c.830T>G (p.Ile277Arg)
n.777-4368T>G
n.6115T>G
c.2186T>G (p.Ile729Arg)
c.2093T>G (p.Ile698Arg)
c.2012T>G (p.Ile671Arg)
c.1988T>G (p.Ile663Arg)
c.1895T>G (p.Ile632Arg)
c.1121T>G (p.Ile374Arg)
c.1034T>G (p.Ile345Arg)
c.947T>G (p.Ile316Arg)
n.754T>G
 dbSNP
17g.46014250T=CA2262102714MAPTc.836T= (p.Ile279=)
c.749T= (p.Ile250=)
c.923T= (p.Ile308=)
n.694T=
n.149T=
n.92T=
c.2099T= (p.Ile700=)
c.1808T= (p.Ile603=)
c.743T= (p.Ile248=)
c.1874T= (p.Ile625=)
c.656T= (p.Ile219=)
c.1928T= (p.Ile643=)
c.830T= (p.Ile277=)
n.777-4368T=
n.6115T=
c.2186T= (p.Ile729=)
c.2093T= (p.Ile698=)
c.2012T= (p.Ile671=)
c.1988T= (p.Ile663=)
c.1895T= (p.Ile632=)
c.1121T= (p.Ile374=)
c.1034T= (p.Ile345=)
c.947T= (p.Ile316=)
n.754T=
17g.46014251A>CCA500371161MAPTc.837A>C (p.Ile279=)
c.750A>C (p.Ile250=)
c.924A>C (p.Ile308=)
n.695A>C
n.150A>C
n.93A>C
c.2100A>C (p.Ile700=)
c.1809A>C (p.Ile603=)
c.744A>C (p.Ile248=)
c.1875A>C (p.Ile625=)
c.657A>C (p.Ile219=)
c.1929A>C (p.Ile643=)
c.831A>C (p.Ile277=)
n.777-4367A>C
n.6116A>C
c.2187A>C (p.Ile729=)
c.2094A>C (p.Ile698=)
c.2013A>C (p.Ile671=)
c.1989A>C (p.Ile663=)
c.1896A>C (p.Ile632=)
c.1122A>C (p.Ile374=)
c.1035A>C (p.Ile345=)
c.948A>C (p.Ile316=)
n.755A>C
17g.46014251A>GCA399983435MAPTc.837A>G (p.Ile279Met)
c.750A>G (p.Ile250Met)
c.924A>G (p.Ile308Met)
n.695A>G
n.150A>G
n.93A>G
c.2100A>G (p.Ile700Met)
c.1809A>G (p.Ile603Met)
c.744A>G (p.Ile248Met)
c.1875A>G (p.Ile625Met)
c.657A>G (p.Ile219Met)
c.1929A>G (p.Ile643Met)
c.831A>G (p.Ile277Met)
n.777-4367A>G
n.6116A>G
c.2187A>G (p.Ile729Met)
c.2094A>G (p.Ile698Met)
c.2013A>G (p.Ile671Met)
c.1989A>G (p.Ile663Met)
c.1896A>G (p.Ile632Met)
c.1122A>G (p.Ile374Met)
c.1035A>G (p.Ile345Met)
c.948A>G (p.Ile316Met)
n.755A>G
17g.46014251A>TCA500371162MAPTc.837A>T (p.Ile279=)
c.750A>T (p.Ile250=)
c.924A>T (p.Ile308=)
n.695A>T
n.150A>T
n.93A>T
c.2100A>T (p.Ile700=)
c.1809A>T (p.Ile603=)
c.744A>T (p.Ile248=)
c.1875A>T (p.Ile625=)
c.657A>T (p.Ile219=)
c.1929A>T (p.Ile643=)
c.831A>T (p.Ile277=)
n.777-4367A>T
n.6116A>T
c.2187A>T (p.Ile729=)
c.2094A>T (p.Ile698=)
c.2013A>T (p.Ile671=)
c.1989A>T (p.Ile663=)
c.1896A>T (p.Ile632=)
c.1122A>T (p.Ile374=)
c.1035A>T (p.Ile345=)
c.948A>T (p.Ile316=)
n.755A>T
17g.46014252G>ACA399983437MAPTc.838G>A (p.Val280Ile)
c.751G>A (p.Val251Ile)
c.925G>A (p.Val309Ile)
n.696G>A
n.151G>A
n.94G>A
c.2101G>A (p.Val701Ile)
c.1810G>A (p.Val604Ile)
c.745G>A (p.Val249Ile)
c.1876G>A (p.Val626Ile)
c.658G>A (p.Val220Ile)
c.1930G>A (p.Val644Ile)
c.832G>A (p.Val278Ile)
n.777-4366G>A
n.6117G>A
c.2188G>A (p.Val730Ile)
c.2095G>A (p.Val699Ile)
c.2014G>A (p.Val672Ile)
c.1990G>A (p.Val664Ile)
c.1897G>A (p.Val633Ile)
c.1123G>A (p.Val375Ile)
c.1036G>A (p.Val346Ile)
c.949G>A (p.Val317Ile)
n.756G>A
17g.46014252G>CCA399983438MAPTc.838G>C (p.Val280Leu)
c.751G>C (p.Val251Leu)
c.925G>C (p.Val309Leu)
n.696G>C
n.151G>C
n.94G>C
c.2101G>C (p.Val701Leu)
c.1810G>C (p.Val604Leu)
c.745G>C (p.Val249Leu)
c.1876G>C (p.Val626Leu)
c.658G>C (p.Val220Leu)
c.1930G>C (p.Val644Leu)
c.832G>C (p.Val278Leu)
n.777-4366G>C
n.6117G>C
c.2188G>C (p.Val730Leu)
c.2095G>C (p.Val699Leu)
c.2014G>C (p.Val672Leu)
c.1990G>C (p.Val664Leu)
c.1897G>C (p.Val633Leu)
c.1123G>C (p.Val375Leu)
c.1036G>C (p.Val346Leu)
c.949G>C (p.Val317Leu)
n.756G>C
17g.46014252G>TCA399983436MAPTc.838G>T (p.Val280Phe)
c.751G>T (p.Val251Phe)
c.925G>T (p.Val309Phe)
n.696G>T
n.151G>T
n.94G>T
c.2101G>T (p.Val701Phe)
c.1810G>T (p.Val604Phe)
c.745G>T (p.Val249Phe)
c.1876G>T (p.Val626Phe)
c.658G>T (p.Val220Phe)
c.1930G>T (p.Val644Phe)
c.832G>T (p.Val278Phe)
n.777-4366G>T
n.6117G>T
c.2188G>T (p.Val730Phe)
c.2095G>T (p.Val699Phe)
c.2014G>T (p.Val672Phe)
c.1990G>T (p.Val664Phe)
c.1897G>T (p.Val633Phe)
c.1123G>T (p.Val375Phe)
c.1036G>T (p.Val346Phe)
c.949G>T (p.Val317Phe)
n.756G>T
 ClinVar
17g.46014253T>ACA399983439MAPTc.839T>A (p.Val280Asp)
c.752T>A (p.Val251Asp)
c.926T>A (p.Val309Asp)
n.697T>A
n.152T>A
n.95T>A
c.2102T>A (p.Val701Asp)
c.1811T>A (p.Val604Asp)
c.746T>A (p.Val249Asp)
c.1877T>A (p.Val626Asp)
c.659T>A (p.Val220Asp)
c.1931T>A (p.Val644Asp)
c.833T>A (p.Val278Asp)
n.777-4365T>A
n.6118T>A
c.2189T>A (p.Val730Asp)
c.2096T>A (p.Val699Asp)
c.2015T>A (p.Val672Asp)
c.1991T>A (p.Val664Asp)
c.1898T>A (p.Val633Asp)
c.1124T>A (p.Val375Asp)
c.1037T>A (p.Val346Asp)
c.950T>A (p.Val317Asp)
n.757T>A
17g.46014253T>CCA399983440MAPTc.839T>C (p.Val280Ala)
c.752T>C (p.Val251Ala)
c.926T>C (p.Val309Ala)
n.697T>C
n.152T>C
n.95T>C
c.2102T>C (p.Val701Ala)
c.1811T>C (p.Val604Ala)
c.746T>C (p.Val249Ala)
c.1877T>C (p.Val626Ala)
c.659T>C (p.Val220Ala)
c.1931T>C (p.Val644Ala)
c.833T>C (p.Val278Ala)
n.777-4365T>C
n.6118T>C
c.2189T>C (p.Val730Ala)
c.2096T>C (p.Val699Ala)
c.2015T>C (p.Val672Ala)
c.1991T>C (p.Val664Ala)
c.1898T>C (p.Val633Ala)
c.1124T>C (p.Val375Ala)
c.1037T>C (p.Val346Ala)
c.950T>C (p.Val317Ala)
n.757T>C
17g.46014253T>GCA399983441MAPTc.839T>G (p.Val280Gly)
c.752T>G (p.Val251Gly)
c.926T>G (p.Val309Gly)
n.697T>G
n.152T>G
n.95T>G
c.2102T>G (p.Val701Gly)
c.1811T>G (p.Val604Gly)
c.746T>G (p.Val249Gly)
c.1877T>G (p.Val626Gly)
c.659T>G (p.Val220Gly)
c.1931T>G (p.Val644Gly)
c.833T>G (p.Val278Gly)
n.777-4365T>G
n.6118T>G
c.2189T>G (p.Val730Gly)
c.2096T>G (p.Val699Gly)
c.2015T>G (p.Val672Gly)
c.1991T>G (p.Val664Gly)
c.1898T>G (p.Val633Gly)
c.1124T>G (p.Val375Gly)
c.1037T>G (p.Val346Gly)
c.950T>G (p.Val317Gly)
n.757T>G
17g.46014254C>ACA500371163MAPTc.840C>A (p.Val280=)
c.753C>A (p.Val251=)
c.927C>A (p.Val309=)
n.698C>A
n.153C>A
n.96C>A
c.2103C>A (p.Val701=)
c.1812C>A (p.Val604=)
c.747C>A (p.Val249=)
c.1878C>A (p.Val626=)
c.660C>A (p.Val220=)
c.1932C>A (p.Val644=)
c.834C>A (p.Val278=)
n.777-4364C>A
n.6119C>A
c.2190C>A (p.Val730=)
c.2097C>A (p.Val699=)
c.2016C>A (p.Val672=)
c.1992C>A (p.Val664=)
c.1899C>A (p.Val633=)
c.1125C>A (p.Val375=)
c.1038C>A (p.Val346=)
c.951C>A (p.Val317=)
n.758C>A
 gnomAD v4
17g.46014254C>GCA500371165MAPTc.840C>G (p.Val280=)
c.753C>G (p.Val251=)
c.927C>G (p.Val309=)
n.698C>G
n.153C>G
n.96C>G
c.2103C>G (p.Val701=)
c.1812C>G (p.Val604=)
c.747C>G (p.Val249=)
c.1878C>G (p.Val626=)
c.660C>G (p.Val220=)
c.1932C>G (p.Val644=)
c.834C>G (p.Val278=)
n.777-4364C>G
n.6119C>G
c.2190C>G (p.Val730=)
c.2097C>G (p.Val699=)
c.2016C>G (p.Val672=)
c.1992C>G (p.Val664=)
c.1899C>G (p.Val633=)
c.1125C>G (p.Val375=)
c.1038C>G (p.Val346=)
c.951C>G (p.Val317=)
n.758C>G
17g.46014254C>TCA500371164MAPTc.840C>T (p.Val280=)
c.753C>T (p.Val251=)
c.927C>T (p.Val309=)
n.698C>T
n.153C>T
n.96C>T
c.2103C>T (p.Val701=)
c.1812C>T (p.Val604=)
c.747C>T (p.Val249=)
c.1878C>T (p.Val626=)
c.660C>T (p.Val220=)
c.1932C>T (p.Val644=)
c.834C>T (p.Val278=)
n.777-4364C>T
n.6119C>T
c.2190C>T (p.Val730=)
c.2097C>T (p.Val699=)
c.2016C>T (p.Val672=)
c.1992C>T (p.Val664=)
c.1899C>T (p.Val633=)
c.1125C>T (p.Val375=)
c.1038C>T (p.Val346=)
c.951C>T (p.Val317=)
n.758C>T
17g.46014255T>ACA399983442MAPTc.841T>A (p.Tyr281Asn)
c.754T>A (p.Tyr252Asn)
c.928T>A (p.Tyr310Asn)
n.699T>A
n.154T>A
n.97T>A
c.2104T>A (p.Tyr702Asn)
c.1813T>A (p.Tyr605Asn)
c.748T>A (p.Tyr250Asn)
c.1879T>A (p.Tyr627Asn)
c.661T>A (p.Tyr221Asn)
c.1933T>A (p.Tyr645Asn)
c.835T>A (p.Tyr279Asn)
n.777-4363T>A
n.6120T>A
c.2191T>A (p.Tyr731Asn)
c.2098T>A (p.Tyr700Asn)
c.2017T>A (p.Tyr673Asn)
c.1993T>A (p.Tyr665Asn)
c.1900T>A (p.Tyr634Asn)
c.1126T>A (p.Tyr376Asn)
c.1039T>A (p.Tyr347Asn)
c.952T>A (p.Tyr318Asn)
n.759T>A
17g.46014255T>CCA399983443MAPTc.841T>C (p.Tyr281His)
c.754T>C (p.Tyr252His)
c.928T>C (p.Tyr310His)
n.699T>C
n.154T>C
n.97T>C
c.2104T>C (p.Tyr702His)
c.1813T>C (p.Tyr605His)
c.748T>C (p.Tyr250His)
c.1879T>C (p.Tyr627His)
c.661T>C (p.Tyr221His)
c.1933T>C (p.Tyr645His)
c.835T>C (p.Tyr279His)
n.777-4363T>C
n.6120T>C
c.2191T>C (p.Tyr731His)
c.2098T>C (p.Tyr700His)
c.2017T>C (p.Tyr673His)
c.1993T>C (p.Tyr665His)
c.1900T>C (p.Tyr634His)
c.1126T>C (p.Tyr376His)
c.1039T>C (p.Tyr347His)
c.952T>C (p.Tyr318His)
n.759T>C
17g.46014255T>GCA399983444MAPTc.841T>G (p.Tyr281Asp)
c.754T>G (p.Tyr252Asp)
c.928T>G (p.Tyr310Asp)
n.699T>G
n.154T>G
n.97T>G
c.2104T>G (p.Tyr702Asp)
c.1813T>G (p.Tyr605Asp)
c.748T>G (p.Tyr250Asp)
c.1879T>G (p.Tyr627Asp)
c.661T>G (p.Tyr221Asp)
c.1933T>G (p.Tyr645Asp)
c.835T>G (p.Tyr279Asp)
n.777-4363T>G
n.6120T>G
c.2191T>G (p.Tyr731Asp)
c.2098T>G (p.Tyr700Asp)
c.2017T>G (p.Tyr673Asp)
c.1993T>G (p.Tyr665Asp)
c.1900T>G (p.Tyr634Asp)
c.1126T>G (p.Tyr376Asp)
c.1039T>G (p.Tyr347Asp)
c.952T>G (p.Tyr318Asp)
n.759T>G
17g.46014256A>CCA399983447MAPTc.842A>C (p.Tyr281Ser)
c.755A>C (p.Tyr252Ser)
c.929A>C (p.Tyr310Ser)
n.700A>C
n.155A>C
n.98A>C
c.2105A>C (p.Tyr702Ser)
c.1814A>C (p.Tyr605Ser)
c.749A>C (p.Tyr250Ser)
c.1880A>C (p.Tyr627Ser)
c.662A>C (p.Tyr221Ser)
c.1934A>C (p.Tyr645Ser)
c.836A>C (p.Tyr279Ser)
n.777-4362A>C
n.6121A>C
c.2192A>C (p.Tyr731Ser)
c.2099A>C (p.Tyr700Ser)
c.2018A>C (p.Tyr673Ser)
c.1994A>C (p.Tyr665Ser)
c.1901A>C (p.Tyr634Ser)
c.1127A>C (p.Tyr376Ser)
c.1040A>C (p.Tyr347Ser)
c.953A>C (p.Tyr318Ser)
n.760A>C
17g.46014256A>GCA399983445MAPTc.842A>G (p.Tyr281Cys)
c.755A>G (p.Tyr252Cys)
c.929A>G (p.Tyr310Cys)
n.700A>G
n.155A>G
n.98A>G
c.2105A>G (p.Tyr702Cys)
c.1814A>G (p.Tyr605Cys)
c.749A>G (p.Tyr250Cys)
c.1880A>G (p.Tyr627Cys)
c.662A>G (p.Tyr221Cys)
c.1934A>G (p.Tyr645Cys)
c.836A>G (p.Tyr279Cys)
n.777-4362A>G
n.6121A>G
c.2192A>G (p.Tyr731Cys)
c.2099A>G (p.Tyr700Cys)
c.2018A>G (p.Tyr673Cys)
c.1994A>G (p.Tyr665Cys)
c.1901A>G (p.Tyr634Cys)
c.1127A>G (p.Tyr376Cys)
c.1040A>G (p.Tyr347Cys)
c.953A>G (p.Tyr318Cys)
n.760A>G
17g.46014256A>TCA399983446MAPTc.842A>T (p.Tyr281Phe)
c.755A>T (p.Tyr252Phe)
c.929A>T (p.Tyr310Phe)
n.700A>T
n.155A>T
n.98A>T
c.2105A>T (p.Tyr702Phe)
c.1814A>T (p.Tyr605Phe)
c.749A>T (p.Tyr250Phe)
c.1880A>T (p.Tyr627Phe)
c.662A>T (p.Tyr221Phe)
c.1934A>T (p.Tyr645Phe)
c.836A>T (p.Tyr279Phe)
n.777-4362A>T
n.6121A>T
c.2192A>T (p.Tyr731Phe)
c.2099A>T (p.Tyr700Phe)
c.2018A>T (p.Tyr673Phe)
c.1994A>T (p.Tyr665Phe)
c.1901A>T (p.Tyr634Phe)
c.1127A>T (p.Tyr376Phe)
c.1040A>T (p.Tyr347Phe)
c.953A>T (p.Tyr318Phe)
n.760A>T
17g.46014257C>ACA399983448MAPTc.843C>A (p.Tyr281Ter)
c.756C>A (p.Tyr252Ter)
c.930C>A (p.Tyr310Ter)
n.701C>A
n.156C>A
n.99C>A
c.2106C>A (p.Tyr702Ter)
c.1815C>A (p.Tyr605Ter)
c.750C>A (p.Tyr250Ter)
c.1881C>A (p.Tyr627Ter)
c.663C>A (p.Tyr221Ter)
c.1935C>A (p.Tyr645Ter)
c.837C>A (p.Tyr279Ter)
n.777-4361C>A
n.6122C>A
c.2193C>A (p.Tyr731Ter)
c.2100C>A (p.Tyr700Ter)
c.2019C>A (p.Tyr673Ter)
c.1995C>A (p.Tyr665Ter)
c.1902C>A (p.Tyr634Ter)
c.1128C>A (p.Tyr376Ter)
c.1041C>A (p.Tyr347Ter)
c.954C>A (p.Tyr318Ter)
n.761C>A
17g.46014257C>GCA399983449MAPTc.843C>G (p.Tyr281Ter)
c.756C>G (p.Tyr252Ter)
c.930C>G (p.Tyr310Ter)
n.701C>G
n.156C>G
n.99C>G
c.2106C>G (p.Tyr702Ter)
c.1815C>G (p.Tyr605Ter)
c.750C>G (p.Tyr250Ter)
c.1881C>G (p.Tyr627Ter)
c.663C>G (p.Tyr221Ter)
c.1935C>G (p.Tyr645Ter)
c.837C>G (p.Tyr279Ter)
n.777-4361C>G
n.6122C>G
c.2193C>G (p.Tyr731Ter)
c.2100C>G (p.Tyr700Ter)
c.2019C>G (p.Tyr673Ter)
c.1995C>G (p.Tyr665Ter)
c.1902C>G (p.Tyr634Ter)
c.1128C>G (p.Tyr376Ter)
c.1041C>G (p.Tyr347Ter)
c.954C>G (p.Tyr318Ter)
n.761C>G
17g.46014257C>TCA500371166MAPTc.843C>T (p.Tyr281=)
c.756C>T (p.Tyr252=)
c.930C>T (p.Tyr310=)
n.701C>T
n.156C>T
n.99C>T
c.2106C>T (p.Tyr702=)
c.1815C>T (p.Tyr605=)
c.750C>T (p.Tyr250=)
c.1881C>T (p.Tyr627=)
c.663C>T (p.Tyr221=)
c.1935C>T (p.Tyr645=)
c.837C>T (p.Tyr279=)
n.777-4361C>T
n.6122C>T
c.2193C>T (p.Tyr731=)
c.2100C>T (p.Tyr700=)
c.2019C>T (p.Tyr673=)
c.1995C>T (p.Tyr665=)
c.1902C>T (p.Tyr634=)
c.1128C>T (p.Tyr376=)
c.1041C>T (p.Tyr347=)
c.954C>T (p.Tyr318=)
n.761C>T
 gnomAD v4 COSMIC COSMIC
17g.46014258A>CCA399983450MAPTc.844A>C (p.Lys282Gln)
c.757A>C (p.Lys253Gln)
c.931A>C (p.Lys311Gln)
n.702A>C
n.157A>C
n.100A>C
c.2107A>C (p.Lys703Gln)
c.1816A>C (p.Lys606Gln)
c.751A>C (p.Lys251Gln)
c.1882A>C (p.Lys628Gln)
c.664A>C (p.Lys222Gln)
c.1936A>C (p.Lys646Gln)
c.838A>C (p.Lys280Gln)
n.777-4360A>C
n.6123A>C
c.2194A>C (p.Lys732Gln)
c.2101A>C (p.Lys701Gln)
c.2020A>C (p.Lys674Gln)
c.1996A>C (p.Lys666Gln)
c.1903A>C (p.Lys635Gln)
c.1129A>C (p.Lys377Gln)
c.1042A>C (p.Lys348Gln)
c.955A>C (p.Lys319Gln)
n.762A>C
17g.46014258A>GCA399983451MAPTc.844A>G (p.Lys282Glu)
c.757A>G (p.Lys253Glu)
c.931A>G (p.Lys311Glu)
n.702A>G
n.157A>G
n.100A>G
c.2107A>G (p.Lys703Glu)
c.1816A>G (p.Lys606Glu)
c.751A>G (p.Lys251Glu)
c.1882A>G (p.Lys628Glu)
c.664A>G (p.Lys222Glu)
c.1936A>G (p.Lys646Glu)
c.838A>G (p.Lys280Glu)
n.777-4360A>G
n.6123A>G
c.2194A>G (p.Lys732Glu)
c.2101A>G (p.Lys701Glu)
c.2020A>G (p.Lys674Glu)
c.1996A>G (p.Lys666Glu)
c.1903A>G (p.Lys635Glu)
c.1129A>G (p.Lys377Glu)
c.1042A>G (p.Lys348Glu)
c.955A>G (p.Lys319Glu)
n.762A>G
17g.46014258A>TCA399983452MAPTc.844A>T (p.Lys282Ter)
c.757A>T (p.Lys253Ter)
c.931A>T (p.Lys311Ter)
n.702A>T
n.157A>T
n.100A>T
c.2107A>T (p.Lys703Ter)
c.1816A>T (p.Lys606Ter)
c.751A>T (p.Lys251Ter)
c.1882A>T (p.Lys628Ter)
c.664A>T (p.Lys222Ter)
c.1936A>T (p.Lys646Ter)
c.838A>T (p.Lys280Ter)
n.777-4360A>T
n.6123A>T
c.2194A>T (p.Lys732Ter)
c.2101A>T (p.Lys701Ter)
c.2020A>T (p.Lys674Ter)
c.1996A>T (p.Lys666Ter)
c.1903A>T (p.Lys635Ter)
c.1129A>T (p.Lys377Ter)
c.1042A>T (p.Lys348Ter)
c.955A>T (p.Lys319Ter)
n.762A>T
17g.46014259A>CCA399983453MAPTc.845A>C (p.Lys282Thr)
c.758A>C (p.Lys253Thr)
c.932A>C (p.Lys311Thr)
n.703A>C
n.158A>C
n.101A>C
c.2108A>C (p.Lys703Thr)
c.1817A>C (p.Lys606Thr)
c.752A>C (p.Lys251Thr)
c.1883A>C (p.Lys628Thr)
c.665A>C (p.Lys222Thr)
c.1937A>C (p.Lys646Thr)
c.839A>C (p.Lys280Thr)
n.777-4359A>C
n.6124A>C
c.2195A>C (p.Lys732Thr)
c.2102A>C (p.Lys701Thr)
c.2021A>C (p.Lys674Thr)
c.1997A>C (p.Lys666Thr)
c.1904A>C (p.Lys635Thr)
c.1130A>C (p.Lys377Thr)
c.1043A>C (p.Lys348Thr)
c.956A>C (p.Lys319Thr)
n.763A>C
17g.46014259A>GCA399983455MAPTc.845A>G (p.Lys282Arg)
c.758A>G (p.Lys253Arg)
c.932A>G (p.Lys311Arg)
n.703A>G
n.158A>G
n.101A>G
c.2108A>G (p.Lys703Arg)
c.1817A>G (p.Lys606Arg)
c.752A>G (p.Lys251Arg)
c.1883A>G (p.Lys628Arg)
c.665A>G (p.Lys222Arg)
c.1937A>G (p.Lys646Arg)
c.839A>G (p.Lys280Arg)
n.777-4359A>G
n.6124A>G
c.2195A>G (p.Lys732Arg)
c.2102A>G (p.Lys701Arg)
c.2021A>G (p.Lys674Arg)
c.1997A>G (p.Lys666Arg)
c.1904A>G (p.Lys635Arg)
c.1130A>G (p.Lys377Arg)
c.1043A>G (p.Lys348Arg)
c.956A>G (p.Lys319Arg)
n.763A>G
17g.46014259A>TCA399983454MAPTc.845A>T (p.Lys282Ile)
c.758A>T (p.Lys253Ile)
c.932A>T (p.Lys311Ile)
n.703A>T
n.158A>T
n.101A>T
c.2108A>T (p.Lys703Ile)
c.1817A>T (p.Lys606Ile)
c.752A>T (p.Lys251Ile)
c.1883A>T (p.Lys628Ile)
c.665A>T (p.Lys222Ile)
c.1937A>T (p.Lys646Ile)
c.839A>T (p.Lys280Ile)
n.777-4359A>T
n.6124A>T
c.2195A>T (p.Lys732Ile)
c.2102A>T (p.Lys701Ile)
c.2021A>T (p.Lys674Ile)
c.1997A>T (p.Lys666Ile)
c.1904A>T (p.Lys635Ile)
c.1130A>T (p.Lys377Ile)
c.1043A>T (p.Lys348Ile)
c.956A>T (p.Lys319Ile)
n.763A>T
17g.46014260A>CCA399983456MAPTc.846A>C (p.Lys282Asn)
c.759A>C (p.Lys253Asn)
c.933A>C (p.Lys311Asn)
n.704A>C
n.159A>C
n.102A>C
c.2109A>C (p.Lys703Asn)
c.1818A>C (p.Lys606Asn)
c.753A>C (p.Lys251Asn)
c.1884A>C (p.Lys628Asn)
c.666A>C (p.Lys222Asn)
c.1938A>C (p.Lys646Asn)
c.840A>C (p.Lys280Asn)
n.777-4358A>C
n.6125A>C
c.2196A>C (p.Lys732Asn)
c.2103A>C (p.Lys701Asn)
c.2022A>C (p.Lys674Asn)
c.1998A>C (p.Lys666Asn)
c.1905A>C (p.Lys635Asn)
c.1131A>C (p.Lys377Asn)
c.1044A>C (p.Lys348Asn)
c.957A>C (p.Lys319Asn)
n.764A>C
17g.46014260A>GCA500371167MAPTc.846A>G (p.Lys282=)
c.759A>G (p.Lys253=)
c.933A>G (p.Lys311=)
n.704A>G
n.159A>G
n.102A>G
c.2109A>G (p.Lys703=)
c.1818A>G (p.Lys606=)
c.753A>G (p.Lys251=)
c.1884A>G (p.Lys628=)
c.666A>G (p.Lys222=)
c.1938A>G (p.Lys646=)
c.840A>G (p.Lys280=)
n.777-4358A>G
n.6125A>G
c.2196A>G (p.Lys732=)
c.2103A>G (p.Lys701=)
c.2022A>G (p.Lys674=)
c.1998A>G (p.Lys666=)
c.1905A>G (p.Lys635=)
c.1131A>G (p.Lys377=)
c.1044A>G (p.Lys348=)
c.957A>G (p.Lys319=)
n.764A>G
 gnomAD v4
17g.46014260A>TCA399983457MAPTc.846A>T (p.Lys282Asn)
c.759A>T (p.Lys253Asn)
c.933A>T (p.Lys311Asn)
n.704A>T
n.159A>T
n.102A>T
c.2109A>T (p.Lys703Asn)
c.1818A>T (p.Lys606Asn)
c.753A>T (p.Lys251Asn)
c.1884A>T (p.Lys628Asn)
c.666A>T (p.Lys222Asn)
c.1938A>T (p.Lys646Asn)
c.840A>T (p.Lys280Asn)
n.777-4358A>T
n.6125A>T
c.2196A>T (p.Lys732Asn)
c.2103A>T (p.Lys701Asn)
c.2022A>T (p.Lys674Asn)
c.1998A>T (p.Lys666Asn)
c.1905A>T (p.Lys635Asn)
c.1131A>T (p.Lys377Asn)
c.1044A>T (p.Lys348Asn)
c.957A>T (p.Lys319Asn)
n.764A>T
17g.46014261C>ACA399983458MAPTc.847C>A (p.Pro283Thr)
c.760C>A (p.Pro254Thr)
c.934C>A (p.Pro312Thr)
n.705C>A
n.160C>A
n.103C>A
c.2110C>A (p.Pro704Thr)
c.1819C>A (p.Pro607Thr)
c.754C>A (p.Pro252Thr)
c.1885C>A (p.Pro629Thr)
c.667C>A (p.Pro223Thr)
c.1939C>A (p.Pro647Thr)
c.841C>A (p.Pro281Thr)
n.777-4357C>A
n.6126C>A
c.2197C>A (p.Pro733Thr)
c.2104C>A (p.Pro702Thr)
c.2023C>A (p.Pro675Thr)
c.1999C>A (p.Pro667Thr)
c.1906C>A (p.Pro636Thr)
c.1132C>A (p.Pro378Thr)
c.1045C>A (p.Pro349Thr)
c.958C>A (p.Pro320Thr)
n.765C>A
17g.46014261C>GCA399983459MAPTc.847C>G (p.Pro283Ala)
c.760C>G (p.Pro254Ala)
c.934C>G (p.Pro312Ala)
n.705C>G
n.160C>G
n.103C>G
c.2110C>G (p.Pro704Ala)
c.1819C>G (p.Pro607Ala)
c.754C>G (p.Pro252Ala)
c.1885C>G (p.Pro629Ala)
c.667C>G (p.Pro223Ala)
c.1939C>G (p.Pro647Ala)
c.841C>G (p.Pro281Ala)
n.777-4357C>G
n.6126C>G
c.2197C>G (p.Pro733Ala)
c.2104C>G (p.Pro702Ala)
c.2023C>G (p.Pro675Ala)
c.1999C>G (p.Pro667Ala)
c.1906C>G (p.Pro636Ala)
c.1132C>G (p.Pro378Ala)
c.1045C>G (p.Pro349Ala)
c.958C>G (p.Pro320Ala)
n.765C>G
17g.46014261C>TCA399983460MAPTc.847C>T (p.Pro283Ser)
c.760C>T (p.Pro254Ser)
c.934C>T (p.Pro312Ser)
n.705C>T
n.160C>T
n.103C>T
c.2110C>T (p.Pro704Ser)
c.1819C>T (p.Pro607Ser)
c.754C>T (p.Pro252Ser)
c.1885C>T (p.Pro629Ser)
c.667C>T (p.Pro223Ser)
c.1939C>T (p.Pro647Ser)
c.841C>T (p.Pro281Ser)
n.777-4357C>T
n.6126C>T
c.2197C>T (p.Pro733Ser)
c.2104C>T (p.Pro702Ser)
c.2023C>T (p.Pro675Ser)
c.1999C>T (p.Pro667Ser)
c.1906C>T (p.Pro636Ser)
c.1132C>T (p.Pro378Ser)
c.1045C>T (p.Pro349Ser)
c.958C>T (p.Pro320Ser)
n.765C>T
17g.46014262C>ACA399983461MAPTc.848C>A (p.Pro283Gln)
c.761C>A (p.Pro254Gln)
c.935C>A (p.Pro312Gln)
n.706C>A
n.161C>A
n.104C>A
c.2111C>A (p.Pro704Gln)
c.1820C>A (p.Pro607Gln)
c.755C>A (p.Pro252Gln)
c.1886C>A (p.Pro629Gln)
c.668C>A (p.Pro223Gln)
c.1940C>A (p.Pro647Gln)
c.842C>A (p.Pro281Gln)
n.777-4356C>A
n.6127C>A
c.2198C>A (p.Pro733Gln)
c.2105C>A (p.Pro702Gln)
c.2024C>A (p.Pro675Gln)
c.2000C>A (p.Pro667Gln)
c.1907C>A (p.Pro636Gln)
c.1133C>A (p.Pro378Gln)
c.1046C>A (p.Pro349Gln)
c.959C>A (p.Pro320Gln)
n.766C>A
17g.46014262C>GCA399983462MAPTc.848C>G (p.Pro283Arg)
c.761C>G (p.Pro254Arg)
c.935C>G (p.Pro312Arg)
n.706C>G
n.161C>G
n.104C>G
c.2111C>G (p.Pro704Arg)
c.1820C>G (p.Pro607Arg)
c.755C>G (p.Pro252Arg)
c.1886C>G (p.Pro629Arg)
c.668C>G (p.Pro223Arg)
c.1940C>G (p.Pro647Arg)
c.842C>G (p.Pro281Arg)
n.777-4356C>G
n.6127C>G
c.2198C>G (p.Pro733Arg)
c.2105C>G (p.Pro702Arg)
c.2024C>G (p.Pro675Arg)
c.2000C>G (p.Pro667Arg)
c.1907C>G (p.Pro636Arg)
c.1133C>G (p.Pro378Arg)
c.1046C>G (p.Pro349Arg)
c.959C>G (p.Pro320Arg)
n.766C>G
17g.46014262C>TCA399983463MAPTc.848C>T (p.Pro283Leu)
c.761C>T (p.Pro254Leu)
c.935C>T (p.Pro312Leu)
n.706C>T
n.161C>T
n.104C>T
c.2111C>T (p.Pro704Leu)
c.1820C>T (p.Pro607Leu)
c.755C>T (p.Pro252Leu)
c.1886C>T (p.Pro629Leu)
c.668C>T (p.Pro223Leu)
c.1940C>T (p.Pro647Leu)
c.842C>T (p.Pro281Leu)
n.777-4356C>T
n.6127C>T
c.2198C>T (p.Pro733Leu)
c.2105C>T (p.Pro702Leu)
c.2024C>T (p.Pro675Leu)
c.2000C>T (p.Pro667Leu)
c.1907C>T (p.Pro636Leu)
c.1133C>T (p.Pro378Leu)
c.1046C>T (p.Pro349Leu)
c.959C>T (p.Pro320Leu)
n.766C>T
17g.46014263A>CCA500371169MAPTc.849A>C (p.Pro283=)
c.762A>C (p.Pro254=)
c.936A>C (p.Pro312=)
n.707A>C
n.162A>C
n.105A>C
c.2112A>C (p.Pro704=)
c.1821A>C (p.Pro607=)
c.756A>C (p.Pro252=)
c.1887A>C (p.Pro629=)
c.669A>C (p.Pro223=)
c.1941A>C (p.Pro647=)
c.843A>C (p.Pro281=)
n.777-4355A>C
n.6128A>C
c.2199A>C (p.Pro733=)
c.2106A>C (p.Pro702=)
c.2025A>C (p.Pro675=)
c.2001A>C (p.Pro667=)
c.1908A>C (p.Pro636=)
c.1134A>C (p.Pro378=)
c.1047A>C (p.Pro349=)
c.960A>C (p.Pro320=)
n.767A>C
17g.46014263A>GCA500371170MAPTc.849A>G (p.Pro283=)
c.762A>G (p.Pro254=)
c.936A>G (p.Pro312=)
n.707A>G
n.162A>G
n.105A>G
c.2112A>G (p.Pro704=)
c.1821A>G (p.Pro607=)
c.756A>G (p.Pro252=)
c.1887A>G (p.Pro629=)
c.669A>G (p.Pro223=)
c.1941A>G (p.Pro647=)
c.843A>G (p.Pro281=)
n.777-4355A>G
n.6128A>G
c.2199A>G (p.Pro733=)
c.2106A>G (p.Pro702=)
c.2025A>G (p.Pro675=)
c.2001A>G (p.Pro667=)
c.1908A>G (p.Pro636=)
c.1134A>G (p.Pro378=)
c.1047A>G (p.Pro349=)
c.960A>G (p.Pro320=)
n.767A>G
17g.46014263A>TCA500371168MAPTc.849A>T (p.Pro283=)
c.762A>T (p.Pro254=)
c.936A>T (p.Pro312=)
n.707A>T
n.162A>T
n.105A>T
c.2112A>T (p.Pro704=)
c.1821A>T (p.Pro607=)
c.756A>T (p.Pro252=)
c.1887A>T (p.Pro629=)
c.669A>T (p.Pro223=)
c.1941A>T (p.Pro647=)
c.843A>T (p.Pro281=)
n.777-4355A>T
n.6128A>T
c.2199A>T (p.Pro733=)
c.2106A>T (p.Pro702=)
c.2025A>T (p.Pro675=)
c.2001A>T (p.Pro667=)
c.1908A>T (p.Pro636=)
c.1134A>T (p.Pro378=)
c.1047A>T (p.Pro349=)
c.960A>T (p.Pro320=)
n.767A>T
17g.46014264G>ACA399983464MAPTc.850G>A (p.Val284Ile)
c.763G>A (p.Val255Ile)
c.937G>A (p.Val313Ile)
n.708G>A
n.163G>A
n.106G>A
c.2113G>A (p.Val705Ile)
c.1822G>A (p.Val608Ile)
c.757G>A (p.Val253Ile)
c.1888G>A (p.Val630Ile)
c.670G>A (p.Val224Ile)
c.1942G>A (p.Val648Ile)
c.844G>A (p.Val282Ile)
n.777-4354G>A
n.6129G>A
c.2200G>A (p.Val734Ile)
c.2107G>A (p.Val703Ile)
c.2026G>A (p.Val676Ile)
c.2002G>A (p.Val668Ile)
c.1909G>A (p.Val637Ile)
c.1135G>A (p.Val379Ile)
c.1048G>A (p.Val350Ile)
c.961G>A (p.Val321Ile)
n.768G>A
17g.46014264G>CCA399983465MAPTc.850G>C (p.Val284Leu)
c.763G>C (p.Val255Leu)
c.937G>C (p.Val313Leu)
n.708G>C
n.163G>C
n.106G>C
c.2113G>C (p.Val705Leu)
c.1822G>C (p.Val608Leu)
c.757G>C (p.Val253Leu)
c.1888G>C (p.Val630Leu)
c.670G>C (p.Val224Leu)
c.1942G>C (p.Val648Leu)
c.844G>C (p.Val282Leu)
n.777-4354G>C
n.6129G>C
c.2200G>C (p.Val734Leu)
c.2107G>C (p.Val703Leu)
c.2026G>C (p.Val676Leu)
c.2002G>C (p.Val668Leu)
c.1909G>C (p.Val637Leu)
c.1135G>C (p.Val379Leu)
c.1048G>C (p.Val350Leu)
c.961G>C (p.Val321Leu)
n.768G>C
17g.46014264G>TCA399983466MAPTc.850G>T (p.Val284Phe)
c.763G>T (p.Val255Phe)
c.937G>T (p.Val313Phe)
n.708G>T
n.163G>T
n.106G>T
c.2113G>T (p.Val705Phe)
c.1822G>T (p.Val608Phe)
c.757G>T (p.Val253Phe)
c.1888G>T (p.Val630Phe)
c.670G>T (p.Val224Phe)
c.1942G>T (p.Val648Phe)
c.844G>T (p.Val282Phe)
n.777-4354G>T
n.6129G>T
c.2200G>T (p.Val734Phe)
c.2107G>T (p.Val703Phe)
c.2026G>T (p.Val676Phe)
c.2002G>T (p.Val668Phe)
c.1909G>T (p.Val637Phe)
c.1135G>T (p.Val379Phe)
c.1048G>T (p.Val350Phe)
c.961G>T (p.Val321Phe)
n.768G>T
17g.46014265T>ACA399983469MAPTc.851T>A (p.Val284Asp)
c.764T>A (p.Val255Asp)
c.938T>A (p.Val313Asp)
n.709T>A
n.164T>A
n.107T>A
c.2114T>A (p.Val705Asp)
c.1823T>A (p.Val608Asp)
c.758T>A (p.Val253Asp)
c.1889T>A (p.Val630Asp)
c.671T>A (p.Val224Asp)
c.1943T>A (p.Val648Asp)
c.845T>A (p.Val282Asp)
n.777-4353T>A
n.6130T>A
c.2201T>A (p.Val734Asp)
c.2108T>A (p.Val703Asp)
c.2027T>A (p.Val676Asp)
c.2003T>A (p.Val668Asp)
c.1910T>A (p.Val637Asp)
c.1136T>A (p.Val379Asp)
c.1049T>A (p.Val350Asp)
c.962T>A (p.Val321Asp)
n.769T>A
17g.46014265T>CCA399983468MAPTc.851T>C (p.Val284Ala)
c.764T>C (p.Val255Ala)
c.938T>C (p.Val313Ala)
n.709T>C
n.164T>C
n.107T>C
c.2114T>C (p.Val705Ala)
c.1823T>C (p.Val608Ala)
c.758T>C (p.Val253Ala)
c.1889T>C (p.Val630Ala)
c.671T>C (p.Val224Ala)
c.1943T>C (p.Val648Ala)
c.845T>C (p.Val282Ala)
n.777-4353T>C
n.6130T>C
c.2201T>C (p.Val734Ala)
c.2108T>C (p.Val703Ala)
c.2027T>C (p.Val676Ala)
c.2003T>C (p.Val668Ala)
c.1910T>C (p.Val637Ala)
c.1136T>C (p.Val379Ala)
c.1049T>C (p.Val350Ala)
c.962T>C (p.Val321Ala)
n.769T>C
17g.46014265T>GCA399983467MAPTc.851T>G (p.Val284Gly)
c.764T>G (p.Val255Gly)
c.938T>G (p.Val313Gly)
n.709T>G
n.164T>G
n.107T>G
c.2114T>G (p.Val705Gly)
c.1823T>G (p.Val608Gly)
c.758T>G (p.Val253Gly)
c.1889T>G (p.Val630Gly)
c.671T>G (p.Val224Gly)
c.1943T>G (p.Val648Gly)
c.845T>G (p.Val282Gly)
n.777-4353T>G
n.6130T>G
c.2201T>G (p.Val734Gly)
c.2108T>G (p.Val703Gly)
c.2027T>G (p.Val676Gly)
c.2003T>G (p.Val668Gly)
c.1910T>G (p.Val637Gly)
c.1136T>G (p.Val379Gly)
c.1049T>G (p.Val350Gly)
c.962T>G (p.Val321Gly)
n.769T>G
17g.46014266T>ACA500371171MAPTc.852T>A (p.Val284=)
c.765T>A (p.Val255=)
c.939T>A (p.Val313=)
n.710T>A
n.165T>A
n.108T>A
c.2115T>A (p.Val705=)
c.1824T>A (p.Val608=)
c.759T>A (p.Val253=)
c.1890T>A (p.Val630=)
c.672T>A (p.Val224=)
c.1944T>A (p.Val648=)
c.846T>A (p.Val282=)
n.777-4352T>A
n.6131T>A
c.2202T>A (p.Val734=)
c.2109T>A (p.Val703=)
c.2028T>A (p.Val676=)
c.2004T>A (p.Val668=)
c.1911T>A (p.Val637=)
c.1137T>A (p.Val379=)
c.1050T>A (p.Val350=)
c.963T>A (p.Val321=)
n.770T>A
17g.46014266T>CCA500371172MAPTc.852T>C (p.Val284=)
c.765T>C (p.Val255=)
c.939T>C (p.Val313=)
n.710T>C
n.165T>C
n.108T>C
c.2115T>C (p.Val705=)
c.1824T>C (p.Val608=)
c.759T>C (p.Val253=)
c.1890T>C (p.Val630=)
c.672T>C (p.Val224=)
c.1944T>C (p.Val648=)
c.846T>C (p.Val282=)
n.777-4352T>C
n.6131T>C
c.2202T>C (p.Val734=)
c.2109T>C (p.Val703=)
c.2028T>C (p.Val676=)
c.2004T>C (p.Val668=)
c.1911T>C (p.Val637=)
c.1137T>C (p.Val379=)
c.1050T>C (p.Val350=)
c.963T>C (p.Val321=)
n.770T>C
17g.46014266T>GCA500371173MAPTc.852T>G (p.Val284=)
c.765T>G (p.Val255=)
c.939T>G (p.Val313=)
n.710T>G
n.165T>G
n.108T>G
c.2115T>G (p.Val705=)
c.1824T>G (p.Val608=)
c.759T>G (p.Val253=)
c.1890T>G (p.Val630=)
c.672T>G (p.Val224=)
c.1944T>G (p.Val648=)
c.846T>G (p.Val282=)
n.777-4352T>G
n.6131T>G
c.2202T>G (p.Val734=)
c.2109T>G (p.Val703=)
c.2028T>G (p.Val676=)
c.2004T>G (p.Val668=)
c.1911T>G (p.Val637=)
c.1137T>G (p.Val379=)
c.1050T>G (p.Val350=)
c.963T>G (p.Val321=)
n.770T>G
17g.46014267G>ACA399983470MAPTc.853G>A (p.Asp285Asn)
c.766G>A (p.Asp256Asn)
c.940G>A (p.Asp314Asn)
n.711G>A
n.166G>A
n.109G>A
c.2116G>A (p.Asp706Asn)
c.1825G>A (p.Asp609Asn)
c.760G>A (p.Asp254Asn)
c.1891G>A (p.Asp631Asn)
c.673G>A (p.Asp225Asn)
c.1945G>A (p.Asp649Asn)
c.847G>A (p.Asp283Asn)
n.777-4351G>A
n.6132G>A
c.2203G>A (p.Asp735Asn)
c.2110G>A (p.Asp704Asn)
c.2029G>A (p.Asp677Asn)
c.2005G>A (p.Asp669Asn)
c.1912G>A (p.Asp638Asn)
c.1138G>A (p.Asp380Asn)
c.1051G>A (p.Asp351Asn)
c.964G>A (p.Asp322Asn)
n.771G>A
17g.46014267G>CCA399983472MAPTc.853G>C (p.Asp285His)
c.766G>C (p.Asp256His)
c.940G>C (p.Asp314His)
n.711G>C
n.166G>C
n.109G>C
c.2116G>C (p.Asp706His)
c.1825G>C (p.Asp609His)
c.760G>C (p.Asp254His)
c.1891G>C (p.Asp631His)
c.673G>C (p.Asp225His)
c.1945G>C (p.Asp649His)
c.847G>C (p.Asp283His)
n.777-4351G>C
n.6132G>C
c.2203G>C (p.Asp735His)
c.2110G>C (p.Asp704His)
c.2029G>C (p.Asp677His)
c.2005G>C (p.Asp669His)
c.1912G>C (p.Asp638His)
c.1138G>C (p.Asp380His)
c.1051G>C (p.Asp351His)
c.964G>C (p.Asp322His)
n.771G>C
17g.46014267G>TCA399983471MAPTc.853G>T (p.Asp285Tyr)
c.766G>T (p.Asp256Tyr)
c.940G>T (p.Asp314Tyr)
n.711G>T
n.166G>T
n.109G>T
c.2116G>T (p.Asp706Tyr)
c.1825G>T (p.Asp609Tyr)
c.760G>T (p.Asp254Tyr)
c.1891G>T (p.Asp631Tyr)
c.673G>T (p.Asp225Tyr)
c.1945G>T (p.Asp649Tyr)
c.847G>T (p.Asp283Tyr)
n.777-4351G>T
n.6132G>T
c.2203G>T (p.Asp735Tyr)
c.2110G>T (p.Asp704Tyr)
c.2029G>T (p.Asp677Tyr)
c.2005G>T (p.Asp669Tyr)
c.1912G>T (p.Asp638Tyr)
c.1138G>T (p.Asp380Tyr)
c.1051G>T (p.Asp351Tyr)
c.964G>T (p.Asp322Tyr)
n.771G>T
 gnomAD v4
17g.46014268A>CCA399983473MAPTc.854A>C (p.Asp285Ala)
c.767A>C (p.Asp256Ala)
c.941A>C (p.Asp314Ala)
n.712A>C
n.167A>C
n.110A>C
c.2117A>C (p.Asp706Ala)
c.1826A>C (p.Asp609Ala)
c.761A>C (p.Asp254Ala)
c.1892A>C (p.Asp631Ala)
c.674A>C (p.Asp225Ala)
c.1946A>C (p.Asp649Ala)
c.848A>C (p.Asp283Ala)
n.777-4350A>C
n.6133A>C
c.2204A>C (p.Asp735Ala)
c.2111A>C (p.Asp704Ala)
c.2030A>C (p.Asp677Ala)
c.2006A>C (p.Asp669Ala)
c.1913A>C (p.Asp638Ala)
c.1139A>C (p.Asp380Ala)
c.1052A>C (p.Asp351Ala)
c.965A>C (p.Asp322Ala)
n.772A>C
17g.46014268A>GCA399983474MAPTc.854A>G (p.Asp285Gly)
c.767A>G (p.Asp256Gly)
c.941A>G (p.Asp314Gly)
n.712A>G
n.167A>G
n.110A>G
c.2117A>G (p.Asp706Gly)
c.1826A>G (p.Asp609Gly)
c.761A>G (p.Asp254Gly)
c.1892A>G (p.Asp631Gly)
c.674A>G (p.Asp225Gly)
c.1946A>G (p.Asp649Gly)
c.848A>G (p.Asp283Gly)
n.777-4350A>G
n.6133A>G
c.2204A>G (p.Asp735Gly)
c.2111A>G (p.Asp704Gly)
c.2030A>G (p.Asp677Gly)
c.2006A>G (p.Asp669Gly)
c.1913A>G (p.Asp638Gly)
c.1139A>G (p.Asp380Gly)
c.1052A>G (p.Asp351Gly)
c.965A>G (p.Asp322Gly)
n.772A>G
17g.46014268A>TCA399983475MAPTc.854A>T (p.Asp285Val)
c.767A>T (p.Asp256Val)
c.941A>T (p.Asp314Val)
n.712A>T
n.167A>T
n.110A>T
c.2117A>T (p.Asp706Val)
c.1826A>T (p.Asp609Val)
c.761A>T (p.Asp254Val)
c.1892A>T (p.Asp631Val)
c.674A>T (p.Asp225Val)
c.1946A>T (p.Asp649Val)
c.848A>T (p.Asp283Val)
n.777-4350A>T
n.6133A>T
c.2204A>T (p.Asp735Val)
c.2111A>T (p.Asp704Val)
c.2030A>T (p.Asp677Val)
c.2006A>T (p.Asp669Val)
c.1913A>T (p.Asp638Val)
c.1139A>T (p.Asp380Val)
c.1052A>T (p.Asp351Val)
c.965A>T (p.Asp322Val)
n.772A>T
17g.46014269C>ACA399983476MAPTc.855C>A (p.Asp285Glu)
c.768C>A (p.Asp256Glu)
c.942C>A (p.Asp314Glu)
n.713C>A
n.168C>A
n.111C>A
c.2118C>A (p.Asp706Glu)
c.1827C>A (p.Asp609Glu)
c.762C>A (p.Asp254Glu)
c.1893C>A (p.Asp631Glu)
c.675C>A (p.Asp225Glu)
c.1947C>A (p.Asp649Glu)
c.849C>A (p.Asp283Glu)
n.777-4349C>A
n.6134C>A
c.2205C>A (p.Asp735Glu)
c.2112C>A (p.Asp704Glu)
c.2031C>A (p.Asp677Glu)
c.2007C>A (p.Asp669Glu)
c.1914C>A (p.Asp638Glu)
c.1140C>A (p.Asp380Glu)
c.1053C>A (p.Asp351Glu)
c.966C>A (p.Asp322Glu)
n.773C>A
17g.46014269C>GCA399983477MAPTc.855C>G (p.Asp285Glu)
c.768C>G (p.Asp256Glu)
c.942C>G (p.Asp314Glu)
n.713C>G
n.168C>G
n.111C>G
c.2118C>G (p.Asp706Glu)
c.1827C>G (p.Asp609Glu)
c.762C>G (p.Asp254Glu)
c.1893C>G (p.Asp631Glu)
c.675C>G (p.Asp225Glu)
c.1947C>G (p.Asp649Glu)
c.849C>G (p.Asp283Glu)
n.777-4349C>G
n.6134C>G
c.2205C>G (p.Asp735Glu)
c.2112C>G (p.Asp704Glu)
c.2031C>G (p.Asp677Glu)
c.2007C>G (p.Asp669Glu)
c.1914C>G (p.Asp638Glu)
c.1140C>G (p.Asp380Glu)
c.1053C>G (p.Asp351Glu)
c.966C>G (p.Asp322Glu)
n.773C>G
17g.46014269C>TCA500371174MAPTc.855C>T (p.Asp285=)
c.768C>T (p.Asp256=)
c.942C>T (p.Asp314=)
n.713C>T
n.168C>T
n.111C>T
c.2118C>T (p.Asp706=)
c.1827C>T (p.Asp609=)
c.762C>T (p.Asp254=)
c.1893C>T (p.Asp631=)
c.675C>T (p.Asp225=)
c.1947C>T (p.Asp649=)
c.849C>T (p.Asp283=)
n.777-4349C>T
n.6134C>T
c.2205C>T (p.Asp735=)
c.2112C>T (p.Asp704=)
c.2031C>T (p.Asp677=)
c.2007C>T (p.Asp669=)
c.1914C>T (p.Asp638=)
c.1140C>T (p.Asp380=)
c.1053C>T (p.Asp351=)
c.966C>T (p.Asp322=)
n.773C>T
 gnomAD v4
17g.46014270C>ACA399983478MAPTc.856C>A (p.Leu286Met)
c.769C>A (p.Leu257Met)
c.943C>A (p.Leu315Met)
n.714C>A
n.169C>A
n.112C>A
c.2119C>A (p.Leu707Met)
c.1828C>A (p.Leu610Met)
c.763C>A (p.Leu255Met)
c.1894C>A (p.Leu632Met)
c.676C>A (p.Leu226Met)
c.1948C>A (p.Leu650Met)
c.850C>A (p.Leu284Met)
n.777-4348C>A
n.6135C>A
c.2206C>A (p.Leu736Met)
c.2113C>A (p.Leu705Met)
c.2032C>A (p.Leu678Met)
c.2008C>A (p.Leu670Met)
c.1915C>A (p.Leu639Met)
c.1141C>A (p.Leu381Met)
c.1054C>A (p.Leu352Met)
c.967C>A (p.Leu323Met)
n.774C>A
17g.46014270C>GCA399983479MAPTc.856C>G (p.Leu286Val)
c.769C>G (p.Leu257Val)
c.943C>G (p.Leu315Val)
n.714C>G
n.169C>G
n.112C>G
c.2119C>G (p.Leu707Val)
c.1828C>G (p.Leu610Val)
c.763C>G (p.Leu255Val)
c.1894C>G (p.Leu632Val)
c.676C>G (p.Leu226Val)
c.1948C>G (p.Leu650Val)
c.850C>G (p.Leu284Val)
n.777-4348C>G
n.6135C>G
c.2206C>G (p.Leu736Val)
c.2113C>G (p.Leu705Val)
c.2032C>G (p.Leu678Val)
c.2008C>G (p.Leu670Val)
c.1915C>G (p.Leu639Val)
c.1141C>G (p.Leu381Val)
c.1054C>G (p.Leu352Val)
c.967C>G (p.Leu323Val)
n.774C>G
17g.46014270C>TCA500371175MAPTc.856C>T (p.Leu286=)
c.769C>T (p.Leu257=)
c.943C>T (p.Leu315=)
n.714C>T
n.169C>T
n.112C>T
c.2119C>T (p.Leu707=)
c.1828C>T (p.Leu610=)
c.763C>T (p.Leu255=)
c.1894C>T (p.Leu632=)
c.676C>T (p.Leu226=)
c.1948C>T (p.Leu650=)
c.850C>T (p.Leu284=)
n.777-4348C>T
n.6135C>T
c.2206C>T (p.Leu736=)
c.2113C>T (p.Leu705=)
c.2032C>T (p.Leu678=)
c.2008C>T (p.Leu670=)
c.1915C>T (p.Leu639=)
c.1141C>T (p.Leu381=)
c.1054C>T (p.Leu352=)
c.967C>T (p.Leu323=)
n.774C>T
17g.46014271T>ACA399983480MAPTc.857T>A (p.Leu286Gln)
c.770T>A (p.Leu257Gln)
c.944T>A (p.Leu315Gln)
n.715T>A
n.170T>A
n.113T>A
c.2120T>A (p.Leu707Gln)
c.1829T>A (p.Leu610Gln)
c.764T>A (p.Leu255Gln)
c.1895T>A (p.Leu632Gln)
c.677T>A (p.Leu226Gln)
c.1949T>A (p.Leu650Gln)
c.851T>A (p.Leu284Gln)
n.777-4347T>A
n.6136T>A
c.2207T>A (p.Leu736Gln)
c.2114T>A (p.Leu705Gln)
c.2033T>A (p.Leu678Gln)
c.2009T>A (p.Leu670Gln)
c.1916T>A (p.Leu639Gln)
c.1142T>A (p.Leu381Gln)
c.1055T>A (p.Leu352Gln)
c.968T>A (p.Leu323Gln)
n.775T>A
17g.46014271T>CCA399983481MAPTc.857T>C (p.Leu286Pro)
c.770T>C (p.Leu257Pro)
c.944T>C (p.Leu315Pro)
n.715T>C
n.170T>C
n.113T>C
c.2120T>C (p.Leu707Pro)
c.1829T>C (p.Leu610Pro)
c.764T>C (p.Leu255Pro)
c.1895T>C (p.Leu632Pro)
c.677T>C (p.Leu226Pro)
c.1949T>C (p.Leu650Pro)
c.851T>C (p.Leu284Pro)
n.777-4347T>C
n.6136T>C
c.2207T>C (p.Leu736Pro)
c.2114T>C (p.Leu705Pro)
c.2033T>C (p.Leu678Pro)
c.2009T>C (p.Leu670Pro)
c.1916T>C (p.Leu639Pro)
c.1142T>C (p.Leu381Pro)
c.1055T>C (p.Leu352Pro)
c.968T>C (p.Leu323Pro)
n.775T>C
17g.46014271T>GCA225469MAPTc.857T>G (p.Leu286Arg)
c.770T>G (p.Leu257Arg)
c.944T>G (p.Leu315Arg)
n.715T>G
n.170T>G
n.113T>G
c.2120T>G (p.Leu707Arg)
c.1829T>G (p.Leu610Arg)
c.764T>G (p.Leu255Arg)
c.1895T>G (p.Leu632Arg)
c.677T>G (p.Leu226Arg)
c.1949T>G (p.Leu650Arg)
c.851T>G (p.Leu284Arg)
n.777-4347T>G
n.6136T>G
c.2207T>G (p.Leu736Arg)
c.2114T>G (p.Leu705Arg)
c.2033T>G (p.Leu678Arg)
c.2009T>G (p.Leu670Arg)
c.1916T>G (p.Leu639Arg)
c.1142T>G (p.Leu381Arg)
c.1055T>G (p.Leu352Arg)
c.968T>G (p.Leu323Arg)
n.775T>G
 ClinVar dbSNP
17g.46014271T=CA2262102715MAPTc.857T= (p.Leu286=)
c.770T= (p.Leu257=)
c.944T= (p.Leu315=)
n.715T=
n.170T=
n.113T=
c.2120T= (p.Leu707=)
c.1829T= (p.Leu610=)
c.764T= (p.Leu255=)
c.1895T= (p.Leu632=)
c.677T= (p.Leu226=)
c.1949T= (p.Leu650=)
c.851T= (p.Leu284=)
n.777-4347T=
n.6136T=
c.2207T= (p.Leu736=)
c.2114T= (p.Leu705=)
c.2033T= (p.Leu678=)
c.2009T= (p.Leu670=)
c.1916T= (p.Leu639=)
c.1142T= (p.Leu381=)
c.1055T= (p.Leu352=)
c.968T= (p.Leu323=)
n.775T=
17g.46014272G>ACA225471MAPTc.858G>A (p.Leu286=)
c.771G>A (p.Leu257=)
c.945G>A (p.Leu315=)
n.716G>A
n.171G>A
n.114G>A
c.2121G>A (p.Leu707=)
c.1830G>A (p.Leu610=)
c.765G>A (p.Leu255=)
c.1896G>A (p.Leu632=)
c.678G>A (p.Leu226=)
c.1950G>A (p.Leu650=)
c.852G>A (p.Leu284=)
n.777-4346G>A
n.6137G>A
c.2208G>A (p.Leu736=)
c.2115G>A (p.Leu705=)
c.2034G>A (p.Leu678=)
c.2010G>A (p.Leu670=)
c.1917G>A (p.Leu639=)
c.1143G>A (p.Leu381=)
c.1056G>A (p.Leu352=)
c.969G>A (p.Leu323=)
n.776G>A
 ClinVar dbSNP
17g.46014272G>CCA500371176MAPTc.858G>C (p.Leu286=)
c.771G>C (p.Leu257=)
c.945G>C (p.Leu315=)
n.716G>C
n.171G>C
n.114G>C
c.2121G>C (p.Leu707=)
c.1830G>C (p.Leu610=)
c.765G>C (p.Leu255=)
c.1896G>C (p.Leu632=)
c.678G>C (p.Leu226=)
c.1950G>C (p.Leu650=)
c.852G>C (p.Leu284=)
n.777-4346G>C
n.6137G>C
c.2208G>C (p.Leu736=)
c.2115G>C (p.Leu705=)
c.2034G>C (p.Leu678=)
c.2010G>C (p.Leu670=)
c.1917G>C (p.Leu639=)
c.1143G>C (p.Leu381=)
c.1056G>C (p.Leu352=)
c.969G>C (p.Leu323=)
n.776G>C
17g.46014272G=CA2262102716MAPTc.858G= (p.Leu286=)
c.771G= (p.Leu257=)
c.945G= (p.Leu315=)
n.716G=
n.171G=
n.114G=
c.2121G= (p.Leu707=)
c.1830G= (p.Leu610=)
c.765G= (p.Leu255=)
c.1896G= (p.Leu632=)
c.678G= (p.Leu226=)
c.1950G= (p.Leu650=)
c.852G= (p.Leu284=)
n.777-4346G=
n.6137G=
c.2208G= (p.Leu736=)
c.2115G= (p.Leu705=)
c.2034G= (p.Leu678=)
c.2010G= (p.Leu670=)
c.1917G= (p.Leu639=)
c.1143G= (p.Leu381=)
c.1056G= (p.Leu352=)
c.969G= (p.Leu323=)
n.776G=
17g.46014272G>TCA500371177MAPTc.858G>T (p.Leu286=)
c.771G>T (p.Leu257=)
c.945G>T (p.Leu315=)
n.716G>T
n.171G>T
n.114G>T
c.2121G>T (p.Leu707=)
c.1830G>T (p.Leu610=)
c.765G>T (p.Leu255=)
c.1896G>T (p.Leu632=)
c.678G>T (p.Leu226=)
c.1950G>T (p.Leu650=)
c.852G>T (p.Leu284=)
n.777-4346G>T
n.6137G>T
c.2208G>T (p.Leu736=)
c.2115G>T (p.Leu705=)
c.2034G>T (p.Leu678=)
c.2010G>T (p.Leu670=)
c.1917G>T (p.Leu639=)
c.1143G>T (p.Leu381=)
c.1056G>T (p.Leu352=)
c.969G>T (p.Leu323=)
n.776G>T
17g.46014273A=CA2262102717MAPTc.859A= (p.Ser287=)
c.772A= (p.Ser258=)
c.946A= (p.Ser316=)
n.717A=
n.172A=
n.115A=
c.2122A= (p.Ser708=)
c.1831A= (p.Ser611=)
c.766A= (p.Ser256=)
c.1897A= (p.Ser633=)
c.679A= (p.Ser227=)
c.1951A= (p.Ser651=)
c.853A= (p.Ser285=)
n.777-4345A=
n.6138A=
c.2209A= (p.Ser737=)
c.2116A= (p.Ser706=)
c.2035A= (p.Ser679=)
c.2011A= (p.Ser671=)
c.1918A= (p.Ser640=)
c.1144A= (p.Ser382=)
c.1057A= (p.Ser353=)
c.970A= (p.Ser324=)
n.777A=
17g.46014273A>CCA399983483MAPTc.859A>C (p.Ser287Arg)
c.772A>C (p.Ser258Arg)
c.946A>C (p.Ser316Arg)
n.717A>C
n.172A>C
n.115A>C
c.2122A>C (p.Ser708Arg)
c.1831A>C (p.Ser611Arg)
c.766A>C (p.Ser256Arg)
c.1897A>C (p.Ser633Arg)
c.679A>C (p.Ser227Arg)
c.1951A>C (p.Ser651Arg)
c.853A>C (p.Ser285Arg)
n.777-4345A>C
n.6138A>C
c.2209A>C (p.Ser737Arg)
c.2116A>C (p.Ser706Arg)
c.2035A>C (p.Ser679Arg)
c.2011A>C (p.Ser671Arg)
c.1918A>C (p.Ser640Arg)
c.1144A>C (p.Ser382Arg)
c.1057A>C (p.Ser353Arg)
c.970A>C (p.Ser324Arg)
n.777A>C
 gnomAD v4
17g.46014273A>GCA291112270MAPTc.859A>G (p.Ser287Gly)
c.772A>G (p.Ser258Gly)
c.946A>G (p.Ser316Gly)
n.717A>G
n.172A>G
n.115A>G
c.2122A>G (p.Ser708Gly)
c.1831A>G (p.Ser611Gly)
c.766A>G (p.Ser256Gly)
c.1897A>G (p.Ser633Gly)
c.679A>G (p.Ser227Gly)
c.1951A>G (p.Ser651Gly)
c.853A>G (p.Ser285Gly)
n.777-4345A>G
n.6138A>G
c.2209A>G (p.Ser737Gly)
c.2116A>G (p.Ser706Gly)
c.2035A>G (p.Ser679Gly)
c.2011A>G (p.Ser671Gly)
c.1918A>G (p.Ser640Gly)
c.1144A>G (p.Ser382Gly)
c.1057A>G (p.Ser353Gly)
c.970A>G (p.Ser324Gly)
n.777A>G
 dbSNP gnomAD v4
17g.46014273A>TCA399983482MAPTc.859A>T (p.Ser287Cys)
c.772A>T (p.Ser258Cys)
c.946A>T (p.Ser316Cys)
n.717A>T
n.172A>T
n.115A>T
c.2122A>T (p.Ser708Cys)
c.1831A>T (p.Ser611Cys)
c.766A>T (p.Ser256Cys)
c.1897A>T (p.Ser633Cys)
c.679A>T (p.Ser227Cys)
c.1951A>T (p.Ser651Cys)
c.853A>T (p.Ser285Cys)
n.777-4345A>T
n.6138A>T
c.2209A>T (p.Ser737Cys)
c.2116A>T (p.Ser706Cys)
c.2035A>T (p.Ser679Cys)
c.2011A>T (p.Ser671Cys)
c.1918A>T (p.Ser640Cys)
c.1144A>T (p.Ser382Cys)
c.1057A>T (p.Ser353Cys)
c.970A>T (p.Ser324Cys)
n.777A>T
17g.46014274G>ACA399983484MAPTc.860G>A (p.Ser287Asn)
c.773G>A (p.Ser258Asn)
c.947G>A (p.Ser316Asn)
n.718G>A
n.173G>A
n.116G>A
c.2123G>A (p.Ser708Asn)
c.1832G>A (p.Ser611Asn)
c.767G>A (p.Ser256Asn)
c.1898G>A (p.Ser633Asn)
c.680G>A (p.Ser227Asn)
c.1952G>A (p.Ser651Asn)
c.854G>A (p.Ser285Asn)
n.777-4344G>A
n.6139G>A
c.2210G>A (p.Ser737Asn)
c.2117G>A (p.Ser706Asn)
c.2036G>A (p.Ser679Asn)
c.2012G>A (p.Ser671Asn)
c.1919G>A (p.Ser640Asn)
c.1145G>A (p.Ser382Asn)
c.1058G>A (p.Ser353Asn)
c.971G>A (p.Ser324Asn)
n.778G>A
17g.46014274G>CCA399983485MAPTc.860G>C (p.Ser287Thr)
c.773G>C (p.Ser258Thr)
c.947G>C (p.Ser316Thr)
n.718G>C
n.173G>C
n.116G>C
c.2123G>C (p.Ser708Thr)
c.1832G>C (p.Ser611Thr)
c.767G>C (p.Ser256Thr)
c.1898G>C (p.Ser633Thr)
c.680G>C (p.Ser227Thr)
c.1952G>C (p.Ser651Thr)
c.854G>C (p.Ser285Thr)
n.777-4344G>C
n.6139G>C
c.2210G>C (p.Ser737Thr)
c.2117G>C (p.Ser706Thr)
c.2036G>C (p.Ser679Thr)
c.2012G>C (p.Ser671Thr)
c.1919G>C (p.Ser640Thr)
c.1145G>C (p.Ser382Thr)
c.1058G>C (p.Ser353Thr)
c.971G>C (p.Ser324Thr)
n.778G>C
17g.46014274G>TCA399983486MAPTc.860G>T (p.Ser287Ile)
c.773G>T (p.Ser258Ile)
c.947G>T (p.Ser316Ile)
n.718G>T
n.173G>T
n.116G>T
c.2123G>T (p.Ser708Ile)
c.1832G>T (p.Ser611Ile)
c.767G>T (p.Ser256Ile)
c.1898G>T (p.Ser633Ile)
c.680G>T (p.Ser227Ile)
c.1952G>T (p.Ser651Ile)
c.854G>T (p.Ser285Ile)
n.777-4344G>T
n.6139G>T
c.2210G>T (p.Ser737Ile)
c.2117G>T (p.Ser706Ile)
c.2036G>T (p.Ser679Ile)
c.2012G>T (p.Ser671Ile)
c.1919G>T (p.Ser640Ile)
c.1145G>T (p.Ser382Ile)
c.1058G>T (p.Ser353Ile)
c.971G>T (p.Ser324Ile)
n.778G>T
17g.46014275C>ACA399983487MAPTc.861C>A (p.Ser287Arg)
c.774C>A (p.Ser258Arg)
c.948C>A (p.Ser316Arg)
n.719C>A
n.174C>A
n.117C>A
c.2124C>A (p.Ser708Arg)
c.1833C>A (p.Ser611Arg)
c.768C>A (p.Ser256Arg)
c.1899C>A (p.Ser633Arg)
c.681C>A (p.Ser227Arg)
c.1953C>A (p.Ser651Arg)
c.855C>A (p.Ser285Arg)
n.777-4343C>A
n.6140C>A
c.2211C>A (p.Ser737Arg)
c.2118C>A (p.Ser706Arg)
c.2037C>A (p.Ser679Arg)
c.2013C>A (p.Ser671Arg)
c.1920C>A (p.Ser640Arg)
c.1146C>A (p.Ser382Arg)
c.1059C>A (p.Ser353Arg)
c.972C>A (p.Ser324Arg)
n.779C>A
17g.46014275C>GCA399983488MAPTc.861C>G (p.Ser287Arg)
c.774C>G (p.Ser258Arg)
c.948C>G (p.Ser316Arg)
n.719C>G
n.174C>G
n.117C>G
c.2124C>G (p.Ser708Arg)
c.1833C>G (p.Ser611Arg)
c.768C>G (p.Ser256Arg)
c.1899C>G (p.Ser633Arg)
c.681C>G (p.Ser227Arg)
c.1953C>G (p.Ser651Arg)
c.855C>G (p.Ser285Arg)
n.777-4343C>G
n.6140C>G
c.2211C>G (p.Ser737Arg)
c.2118C>G (p.Ser706Arg)
c.2037C>G (p.Ser679Arg)
c.2013C>G (p.Ser671Arg)
c.1920C>G (p.Ser640Arg)
c.1146C>G (p.Ser382Arg)
c.1059C>G (p.Ser353Arg)
c.972C>G (p.Ser324Arg)
n.779C>G
17g.46014275C>TCA500371178MAPTc.861C>T (p.Ser287=)
c.774C>T (p.Ser258=)
c.948C>T (p.Ser316=)
n.719C>T
n.174C>T
n.117C>T
c.2124C>T (p.Ser708=)
c.1833C>T (p.Ser611=)
c.768C>T (p.Ser256=)
c.1899C>T (p.Ser633=)
c.681C>T (p.Ser227=)
c.1953C>T (p.Ser651=)
c.855C>T (p.Ser285=)
n.777-4343C>T
n.6140C>T
c.2211C>T (p.Ser737=)
c.2118C>T (p.Ser706=)
c.2037C>T (p.Ser679=)
c.2013C>T (p.Ser671=)
c.1920C>T (p.Ser640=)
c.1146C>T (p.Ser382=)
c.1059C>T (p.Ser353=)
c.972C>T (p.Ser324=)
n.779C>T
17g.46014276A>CCA399983489MAPTc.862A>C (p.Lys288Gln)
c.775A>C (p.Lys259Gln)
c.949A>C (p.Lys317Gln)
n.720A>C
n.175A>C
n.118A>C
c.2125A>C (p.Lys709Gln)
c.1834A>C (p.Lys612Gln)
c.769A>C (p.Lys257Gln)
c.1900A>C (p.Lys634Gln)
c.682A>C (p.Lys228Gln)
c.1954A>C (p.Lys652Gln)
c.856A>C (p.Lys286Gln)
n.777-4342A>C
n.6141A>C
c.2212A>C (p.Lys738Gln)
c.2119A>C (p.Lys707Gln)
c.2038A>C (p.Lys680Gln)
c.2014A>C (p.Lys672Gln)
c.1921A>C (p.Lys641Gln)
c.1147A>C (p.Lys383Gln)
c.1060A>C (p.Lys354Gln)
c.973A>C (p.Lys325Gln)
n.780A>C
17g.46014276A>GCA399983490MAPTc.862A>G (p.Lys288Glu)
c.775A>G (p.Lys259Glu)
c.949A>G (p.Lys317Glu)
n.720A>G
n.175A>G
n.118A>G
c.2125A>G (p.Lys709Glu)
c.1834A>G (p.Lys612Glu)
c.769A>G (p.Lys257Glu)
c.1900A>G (p.Lys634Glu)
c.682A>G (p.Lys228Glu)
c.1954A>G (p.Lys652Glu)
c.856A>G (p.Lys286Glu)
n.777-4342A>G
n.6141A>G
c.2212A>G (p.Lys738Glu)
c.2119A>G (p.Lys707Glu)
c.2038A>G (p.Lys680Glu)
c.2014A>G (p.Lys672Glu)
c.1921A>G (p.Lys641Glu)
c.1147A>G (p.Lys383Glu)
c.1060A>G (p.Lys354Glu)
c.973A>G (p.Lys325Glu)
n.780A>G
17g.46014276A>TCA399983491MAPTc.862A>T (p.Lys288Ter)
c.775A>T (p.Lys259Ter)
c.949A>T (p.Lys317Ter)
n.720A>T
n.175A>T
n.118A>T
c.2125A>T (p.Lys709Ter)
c.1834A>T (p.Lys612Ter)
c.769A>T (p.Lys257Ter)
c.1900A>T (p.Lys634Ter)
c.682A>T (p.Lys228Ter)
c.1954A>T (p.Lys652Ter)
c.856A>T (p.Lys286Ter)
n.777-4342A>T
n.6141A>T
c.2212A>T (p.Lys738Ter)
c.2119A>T (p.Lys707Ter)
c.2038A>T (p.Lys680Ter)
c.2014A>T (p.Lys672Ter)
c.1921A>T (p.Lys641Ter)
c.1147A>T (p.Lys383Ter)
c.1060A>T (p.Lys354Ter)
c.973A>T (p.Lys325Ter)
n.780A>T
17g.46014277A=CA2262102718MAPTc.863A= (p.Lys288=)
c.776A= (p.Lys259=)
c.950A= (p.Lys317=)
n.721A=
n.176A=
n.119A=
c.2126A= (p.Lys709=)
c.1835A= (p.Lys612=)
c.770A= (p.Lys257=)
c.1901A= (p.Lys634=)
c.683A= (p.Lys228=)
c.1955A= (p.Lys652=)
c.857A= (p.Lys286=)
n.777-4341A=
n.6142A=
c.2213A= (p.Lys738=)
c.2120A= (p.Lys707=)
c.2039A= (p.Lys680=)
c.2015A= (p.Lys672=)
c.1922A= (p.Lys641=)
c.1148A= (p.Lys383=)
c.1061A= (p.Lys354=)
c.974A= (p.Lys325=)
n.781A=
17g.46014277A>CCA399983492MAPTc.863A>C (p.Lys288Thr)
c.776A>C (p.Lys259Thr)
c.950A>C (p.Lys317Thr)
n.721A>C
n.176A>C
n.119A>C
c.2126A>C (p.Lys709Thr)
c.1835A>C (p.Lys612Thr)
c.770A>C (p.Lys257Thr)
c.1901A>C (p.Lys634Thr)
c.683A>C (p.Lys228Thr)
c.1955A>C (p.Lys652Thr)
c.857A>C (p.Lys286Thr)
n.777-4341A>C
n.6142A>C
c.2213A>C (p.Lys738Thr)
c.2120A>C (p.Lys707Thr)
c.2039A>C (p.Lys680Thr)
c.2015A>C (p.Lys672Thr)
c.1922A>C (p.Lys641Thr)
c.1148A>C (p.Lys383Thr)
c.1061A>C (p.Lys354Thr)
c.974A>C (p.Lys325Thr)
n.781A>C
17g.46014277A>GCA399983493MAPTc.863A>G (p.Lys288Arg)
c.776A>G (p.Lys259Arg)
c.950A>G (p.Lys317Arg)
n.721A>G
n.176A>G
n.119A>G
c.2126A>G (p.Lys709Arg)
c.1835A>G (p.Lys612Arg)
c.770A>G (p.Lys257Arg)
c.1901A>G (p.Lys634Arg)
c.683A>G (p.Lys228Arg)
c.1955A>G (p.Lys652Arg)
c.857A>G (p.Lys286Arg)
n.777-4341A>G
n.6142A>G
c.2213A>G (p.Lys738Arg)
c.2120A>G (p.Lys707Arg)
c.2039A>G (p.Lys680Arg)
c.2015A>G (p.Lys672Arg)
c.1922A>G (p.Lys641Arg)
c.1148A>G (p.Lys383Arg)
c.1061A>G (p.Lys354Arg)
c.974A>G (p.Lys325Arg)
n.781A>G
17g.46014277A>TCA225473MAPTc.863A>T (p.Lys288Met)
c.776A>T (p.Lys259Met)
c.950A>T (p.Lys317Met)
n.721A>T
n.176A>T
n.119A>T
c.2126A>T (p.Lys709Met)
c.1835A>T (p.Lys612Met)
c.770A>T (p.Lys257Met)
c.1901A>T (p.Lys634Met)
c.683A>T (p.Lys228Met)
c.1955A>T (p.Lys652Met)
c.857A>T (p.Lys286Met)
n.777-4341A>T
n.6142A>T
c.2213A>T (p.Lys738Met)
c.2120A>T (p.Lys707Met)
c.2039A>T (p.Lys680Met)
c.2015A>T (p.Lys672Met)
c.1922A>T (p.Lys641Met)
c.1148A>T (p.Lys383Met)
c.1061A>T (p.Lys354Met)
c.974A>T (p.Lys325Met)
n.781A>T
 ClinVar dbSNP
17g.46014278G>ACA500371179MAPTc.864G>A (p.Lys288=)
c.777G>A (p.Lys259=)
c.951G>A (p.Lys317=)
n.722G>A
n.177G>A
n.120G>A
c.2127G>A (p.Lys709=)
c.1836G>A (p.Lys612=)
c.771G>A (p.Lys257=)
c.1902G>A (p.Lys634=)
c.684G>A (p.Lys228=)
c.1956G>A (p.Lys652=)
c.858G>A (p.Lys286=)
n.777-4340G>A
n.6143G>A
c.2214G>A (p.Lys738=)
c.2121G>A (p.Lys707=)
c.2040G>A (p.Lys680=)
c.2016G>A (p.Lys672=)
c.1923G>A (p.Lys641=)
c.1149G>A (p.Lys383=)
c.1062G>A (p.Lys354=)
c.975G>A (p.Lys325=)
n.782G>A
17g.46014278G>CCA399983495MAPTc.864G>C (p.Lys288Asn)
c.777G>C (p.Lys259Asn)
c.951G>C (p.Lys317Asn)
n.722G>C
n.177G>C
n.120G>C
c.2127G>C (p.Lys709Asn)
c.1836G>C (p.Lys612Asn)
c.771G>C (p.Lys257Asn)
c.1902G>C (p.Lys634Asn)
c.684G>C (p.Lys228Asn)
c.1956G>C (p.Lys652Asn)
c.858G>C (p.Lys286Asn)
n.777-4340G>C
n.6143G>C
c.2214G>C (p.Lys738Asn)
c.2121G>C (p.Lys707Asn)
c.2040G>C (p.Lys680Asn)
c.2016G>C (p.Lys672Asn)
c.1923G>C (p.Lys641Asn)
c.1149G>C (p.Lys383Asn)
c.1062G>C (p.Lys354Asn)
c.975G>C (p.Lys325Asn)
n.782G>C
17g.46014278G>TCA399983494MAPTc.864G>T (p.Lys288Asn)
c.777G>T (p.Lys259Asn)
c.951G>T (p.Lys317Asn)
n.722G>T
n.177G>T
n.120G>T
c.2127G>T (p.Lys709Asn)
c.1836G>T (p.Lys612Asn)
c.771G>T (p.Lys257Asn)
c.1902G>T (p.Lys634Asn)
c.684G>T (p.Lys228Asn)
c.1956G>T (p.Lys652Asn)
c.858G>T (p.Lys286Asn)
n.777-4340G>T
n.6143G>T
c.2214G>T (p.Lys738Asn)
c.2121G>T (p.Lys707Asn)
c.2040G>T (p.Lys680Asn)
c.2016G>T (p.Lys672Asn)
c.1923G>T (p.Lys641Asn)
c.1149G>T (p.Lys383Asn)
c.1062G>T (p.Lys354Asn)
c.975G>T (p.Lys325Asn)
n.782G>T
17g.46014279G>ACA399983496MAPTc.865G>A (p.Val289Met)
c.778G>A (p.Val260Met)
c.952G>A (p.Val318Met)
n.723G>A
n.178G>A
n.121G>A
c.2128G>A (p.Val710Met)
c.1837G>A (p.Val613Met)
c.772G>A (p.Val258Met)
c.1903G>A (p.Val635Met)
c.685G>A (p.Val229Met)
c.1957G>A (p.Val653Met)
c.859G>A (p.Val287Met)
n.777-4339G>A
n.6144G>A
c.2215G>A (p.Val739Met)
c.2122G>A (p.Val708Met)
c.2041G>A (p.Val681Met)
c.2017G>A (p.Val673Met)
c.1924G>A (p.Val642Met)
c.1150G>A (p.Val384Met)
c.1063G>A (p.Val355Met)
c.976G>A (p.Val326Met)
c.771+1G>A (n.771+1G>A)
n.783G>A
17g.46014279G>CCA399983497MAPTc.865G>C (p.Val289Leu)
c.778G>C (p.Val260Leu)
c.952G>C (p.Val318Leu)
n.723G>C
n.178G>C
n.121G>C
c.2128G>C (p.Val710Leu)
c.1837G>C (p.Val613Leu)
c.772G>C (p.Val258Leu)
c.1903G>C (p.Val635Leu)
c.685G>C (p.Val229Leu)
c.1957G>C (p.Val653Leu)
c.859G>C (p.Val287Leu)
n.777-4339G>C
n.6144G>C
c.2215G>C (p.Val739Leu)
c.2122G>C (p.Val708Leu)
c.2041G>C (p.Val681Leu)
c.2017G>C (p.Val673Leu)
c.1924G>C (p.Val642Leu)
c.1150G>C (p.Val384Leu)
c.1063G>C (p.Val355Leu)
c.976G>C (p.Val326Leu)
c.771+1G>C (n.771+1G>C)
n.783G>C
17g.46014279G>TCA399983498MAPTc.865G>T (p.Val289Leu)
c.778G>T (p.Val260Leu)
c.952G>T (p.Val318Leu)
n.723G>T
n.178G>T
n.121G>T
c.2128G>T (p.Val710Leu)
c.1837G>T (p.Val613Leu)
c.772G>T (p.Val258Leu)
c.1903G>T (p.Val635Leu)
c.685G>T (p.Val229Leu)
c.1957G>T (p.Val653Leu)
c.859G>T (p.Val287Leu)
n.777-4339G>T
n.6144G>T
c.2215G>T (p.Val739Leu)
c.2122G>T (p.Val708Leu)
c.2041G>T (p.Val681Leu)
c.2017G>T (p.Val673Leu)
c.1924G>T (p.Val642Leu)
c.1150G>T (p.Val384Leu)
c.1063G>T (p.Val355Leu)
c.976G>T (p.Val326Leu)
c.771+1G>T (n.771+1G>T)
n.783G>T
17g.46014280T>ACA399983499MAPTc.866T>A (p.Val289Glu)
c.779T>A (p.Val260Glu)
c.953T>A (p.Val318Glu)
n.724T>A
n.179T>A
n.122T>A
c.2129T>A (p.Val710Glu)
c.1838T>A (p.Val613Glu)
c.773T>A (p.Val258Glu)
c.1904T>A (p.Val635Glu)
c.686T>A (p.Val229Glu)
c.1958T>A (p.Val653Glu)
c.860T>A (p.Val287Glu)
n.777-4338T>A
n.6145T>A
c.2216T>A (p.Val739Glu)
c.2123T>A (p.Val708Glu)
c.2042T>A (p.Val681Glu)
c.2018T>A (p.Val673Glu)
c.1925T>A (p.Val642Glu)
c.1151T>A (p.Val384Glu)
c.1064T>A (p.Val355Glu)
c.977T>A (p.Val326Glu)
c.771+2T>A (n.771+2T>A)
n.784T>A
17g.46014280T>CCA399983500MAPTc.866T>C (p.Val289Ala)
c.779T>C (p.Val260Ala)
c.953T>C (p.Val318Ala)
n.724T>C
n.179T>C
n.122T>C
c.2129T>C (p.Val710Ala)
c.1838T>C (p.Val613Ala)
c.773T>C (p.Val258Ala)
c.1904T>C (p.Val635Ala)
c.686T>C (p.Val229Ala)
c.1958T>C (p.Val653Ala)
c.860T>C (p.Val287Ala)
n.777-4338T>C
n.6145T>C
c.2216T>C (p.Val739Ala)
c.2123T>C (p.Val708Ala)
c.2042T>C (p.Val681Ala)
c.2018T>C (p.Val673Ala)
c.1925T>C (p.Val642Ala)
c.1151T>C (p.Val384Ala)
c.1064T>C (p.Val355Ala)
c.977T>C (p.Val326Ala)
c.771+2T>C (n.771+2T>C)
n.784T>C
17g.46014280T>GCA399983501MAPTc.866T>G (p.Val289Gly)
c.779T>G (p.Val260Gly)
c.953T>G (p.Val318Gly)
n.724T>G
n.179T>G
n.122T>G
c.2129T>G (p.Val710Gly)
c.1838T>G (p.Val613Gly)
c.773T>G (p.Val258Gly)
c.1904T>G (p.Val635Gly)
c.686T>G (p.Val229Gly)
c.1958T>G (p.Val653Gly)
c.860T>G (p.Val287Gly)
n.777-4338T>G
n.6145T>G
c.2216T>G (p.Val739Gly)
c.2123T>G (p.Val708Gly)
c.2042T>G (p.Val681Gly)
c.2018T>G (p.Val673Gly)
c.1925T>G (p.Val642Gly)
c.1151T>G (p.Val384Gly)
c.1064T>G (p.Val355Gly)
c.977T>G (p.Val326Gly)
c.771+2T>G (n.771+2T>G)
n.784T>G
17g.46014281G>ACA500371182MAPTc.867G>A (p.Val289=)
c.780G>A (p.Val260=)
c.954G>A (p.Val318=)
n.725G>A
n.180G>A
n.123G>A
c.2130G>A (p.Val710=)
c.1839G>A (p.Val613=)
c.774G>A (p.Val258=)
c.1905G>A (p.Val635=)
c.687G>A (p.Val229=)
c.1959G>A (p.Val653=)
c.861G>A (p.Val287=)
n.777-4337G>A
n.6146G>A
c.2217G>A (p.Val739=)
c.2124G>A (p.Val708=)
c.2043G>A (p.Val681=)
c.2019G>A (p.Val673=)
c.1926G>A (p.Val642=)
c.1152G>A (p.Val384=)
c.1065G>A (p.Val355=)
c.978G>A (p.Val326=)
c.771+3G>A (n.771+3G>A)
n.785G>A
 gnomAD v4
17g.46014281G>CCA500371180MAPTc.867G>C (p.Val289=)
c.780G>C (p.Val260=)
c.954G>C (p.Val318=)
n.725G>C
n.180G>C
n.123G>C
c.2130G>C (p.Val710=)
c.1839G>C (p.Val613=)
c.774G>C (p.Val258=)
c.1905G>C (p.Val635=)
c.687G>C (p.Val229=)
c.1959G>C (p.Val653=)
c.861G>C (p.Val287=)
n.777-4337G>C
n.6146G>C
c.2217G>C (p.Val739=)
c.2124G>C (p.Val708=)
c.2043G>C (p.Val681=)
c.2019G>C (p.Val673=)
c.1926G>C (p.Val642=)
c.1152G>C (p.Val384=)
c.1065G>C (p.Val355=)
c.978G>C (p.Val326=)
c.771+3G>C (n.771+3G>C)
n.785G>C
17g.46014281G>TCA500371181MAPTc.867G>T (p.Val289=)
c.780G>T (p.Val260=)
c.954G>T (p.Val318=)
n.725G>T
n.180G>T
n.123G>T
c.2130G>T (p.Val710=)
c.1839G>T (p.Val613=)
c.774G>T (p.Val258=)
c.1905G>T (p.Val635=)
c.687G>T (p.Val229=)
c.1959G>T (p.Val653=)
c.861G>T (p.Val287=)
n.777-4337G>T
n.6146G>T
c.2217G>T (p.Val739=)
c.2124G>T (p.Val708=)
c.2043G>T (p.Val681=)
c.2019G>T (p.Val673=)
c.1926G>T (p.Val642=)
c.1152G>T (p.Val384=)
c.1065G>T (p.Val355=)
c.978G>T (p.Val326=)
c.771+3G>T (n.771+3G>T)
n.785G>T
17g.46014282A>CCA399983502MAPTc.868A>C (p.Thr290Pro)
c.781A>C (p.Thr261Pro)
c.955A>C (p.Thr319Pro)
n.726A>C
n.181A>C
n.124A>C
c.2131A>C (p.Thr711Pro)
c.1840A>C (p.Thr614Pro)
c.775A>C (p.Thr259Pro)
c.1906A>C (p.Thr636Pro)
c.688A>C (p.Thr230Pro)
c.1960A>C (p.Thr654Pro)
c.862A>C (p.Thr288Pro)
n.777-4336A>C
n.6147A>C
c.2218A>C (p.Thr740Pro)
c.2125A>C (p.Thr709Pro)
c.2044A>C (p.Thr682Pro)
c.2020A>C (p.Thr674Pro)
c.1927A>C (p.Thr643Pro)
c.1153A>C (p.Thr385Pro)
c.1066A>C (p.Thr356Pro)
c.979A>C (p.Thr327Pro)
c.771+4A>C (n.771+4A>C)
n.786A>C
17g.46014282A>GCA399983503MAPTc.868A>G (p.Thr290Ala)
c.781A>G (p.Thr261Ala)
c.955A>G (p.Thr319Ala)
n.726A>G
n.181A>G
n.124A>G
c.2131A>G (p.Thr711Ala)
c.1840A>G (p.Thr614Ala)
c.775A>G (p.Thr259Ala)
c.1906A>G (p.Thr636Ala)
c.688A>G (p.Thr230Ala)
c.1960A>G (p.Thr654Ala)
c.862A>G (p.Thr288Ala)
n.777-4336A>G
n.6147A>G
c.2218A>G (p.Thr740Ala)
c.2125A>G (p.Thr709Ala)
c.2044A>G (p.Thr682Ala)
c.2020A>G (p.Thr674Ala)
c.1927A>G (p.Thr643Ala)
c.1153A>G (p.Thr385Ala)
c.1066A>G (p.Thr356Ala)
c.979A>G (p.Thr327Ala)
c.771+4A>G (n.771+4A>G)
n.786A>G
17g.46014282A>TCA399983504MAPTc.868A>T (p.Thr290Ser)
c.781A>T (p.Thr261Ser)
c.955A>T (p.Thr319Ser)
n.726A>T
n.181A>T
n.124A>T
c.2131A>T (p.Thr711Ser)
c.1840A>T (p.Thr614Ser)
c.775A>T (p.Thr259Ser)
c.1906A>T (p.Thr636Ser)
c.688A>T (p.Thr230Ser)
c.1960A>T (p.Thr654Ser)
c.862A>T (p.Thr288Ser)
n.777-4336A>T
n.6147A>T
c.2218A>T (p.Thr740Ser)
c.2125A>T (p.Thr709Ser)
c.2044A>T (p.Thr682Ser)
c.2020A>T (p.Thr674Ser)
c.1927A>T (p.Thr643Ser)
c.1153A>T (p.Thr385Ser)
c.1066A>T (p.Thr356Ser)
c.979A>T (p.Thr327Ser)
c.771+4A>T (n.771+4A>T)
n.786A>T
17g.46014283C>ACA399983505MAPTc.869C>A (p.Thr290Asn)
c.782C>A (p.Thr261Asn)
c.956C>A (p.Thr319Asn)
n.727C>A
n.182C>A
n.125C>A
c.2132C>A (p.Thr711Asn)
c.1841C>A (p.Thr614Asn)
c.776C>A (p.Thr259Asn)
c.1907C>A (p.Thr636Asn)
c.689C>A (p.Thr230Asn)
c.1961C>A (p.Thr654Asn)
c.863C>A (p.Thr288Asn)
n.777-4335C>A
n.6148C>A
c.2219C>A (p.Thr740Asn)
c.2126C>A (p.Thr709Asn)
c.2045C>A (p.Thr682Asn)
c.2021C>A (p.Thr674Asn)
c.1928C>A (p.Thr643Asn)
c.1154C>A (p.Thr385Asn)
c.1067C>A (p.Thr356Asn)
c.980C>A (p.Thr327Asn)
c.771+5C>A (n.771+5C>A)
n.787C>A
17g.46014283C>GCA399983506MAPTc.869C>G (p.Thr290Ser)
c.782C>G (p.Thr261Ser)
c.956C>G (p.Thr319Ser)
n.727C>G
n.182C>G
n.125C>G
c.2132C>G (p.Thr711Ser)
c.1841C>G (p.Thr614Ser)
c.776C>G (p.Thr259Ser)
c.1907C>G (p.Thr636Ser)
c.689C>G (p.Thr230Ser)
c.1961C>G (p.Thr654Ser)
c.863C>G (p.Thr288Ser)
n.777-4335C>G
n.6148C>G
c.2219C>G (p.Thr740Ser)
c.2126C>G (p.Thr709Ser)
c.2045C>G (p.Thr682Ser)
c.2021C>G (p.Thr674Ser)
c.1928C>G (p.Thr643Ser)
c.1154C>G (p.Thr385Ser)
c.1067C>G (p.Thr356Ser)
c.980C>G (p.Thr327Ser)
c.771+5C>G (n.771+5C>G)
n.787C>G
17g.46014283C>TCA399983507MAPTc.869C>T (p.Thr290Ile)
c.782C>T (p.Thr261Ile)
c.956C>T (p.Thr319Ile)
n.727C>T
n.182C>T
n.125C>T
c.2132C>T (p.Thr711Ile)
c.1841C>T (p.Thr614Ile)
c.776C>T (p.Thr259Ile)
c.1907C>T (p.Thr636Ile)
c.689C>T (p.Thr230Ile)
c.1961C>T (p.Thr654Ile)
c.863C>T (p.Thr288Ile)
n.777-4335C>T
n.6148C>T
c.2219C>T (p.Thr740Ile)
c.2126C>T (p.Thr709Ile)
c.2045C>T (p.Thr682Ile)
c.2021C>T (p.Thr674Ile)
c.1928C>T (p.Thr643Ile)
c.1154C>T (p.Thr385Ile)
c.1067C>T (p.Thr356Ile)
c.980C>T (p.Thr327Ile)
c.771+5C>T (n.771+5C>T)
n.787C>T
17g.46014284C>ACA500371184MAPTc.870C>A (p.Thr290=)
c.783C>A (p.Thr261=)
c.957C>A (p.Thr319=)
n.728C>A
n.183C>A
n.126C>A
c.2133C>A (p.Thr711=)
c.1842C>A (p.Thr614=)
c.777C>A (p.Thr259=)
c.1908C>A (p.Thr636=)
c.690C>A (p.Thr230=)
c.1962C>A (p.Thr654=)
c.864C>A (p.Thr288=)
n.777-4334C>A
n.6149C>A
c.2220C>A (p.Thr740=)
c.2127C>A (p.Thr709=)
c.2046C>A (p.Thr682=)
c.2022C>A (p.Thr674=)
c.1929C>A (p.Thr643=)
c.1155C>A (p.Thr385=)
c.1068C>A (p.Thr356=)
c.981C>A (p.Thr327=)
c.771+6C>A (n.771+6C>A)
n.788C>A
17g.46014284C>GCA500371185MAPTc.870C>G (p.Thr290=)
c.783C>G (p.Thr261=)
c.957C>G (p.Thr319=)
n.728C>G
n.183C>G
n.126C>G
c.2133C>G (p.Thr711=)
c.1842C>G (p.Thr614=)
c.777C>G (p.Thr259=)
c.1908C>G (p.Thr636=)
c.690C>G (p.Thr230=)
c.1962C>G (p.Thr654=)
c.864C>G (p.Thr288=)
n.777-4334C>G
n.6149C>G
c.2220C>G (p.Thr740=)
c.2127C>G (p.Thr709=)
c.2046C>G (p.Thr682=)
c.2022C>G (p.Thr674=)
c.1929C>G (p.Thr643=)
c.1155C>G (p.Thr385=)
c.1068C>G (p.Thr356=)
c.981C>G (p.Thr327=)
c.771+6C>G (n.771+6C>G)
n.788C>G
17g.46014284C>TCA500371183MAPTc.870C>T (p.Thr290=)
c.783C>T (p.Thr261=)
c.957C>T (p.Thr319=)
n.728C>T
n.183C>T
n.126C>T
c.2133C>T (p.Thr711=)
c.1842C>T (p.Thr614=)
c.777C>T (p.Thr259=)
c.1908C>T (p.Thr636=)
c.690C>T (p.Thr230=)
c.1962C>T (p.Thr654=)
c.864C>T (p.Thr288=)
n.777-4334C>T
n.6149C>T
c.2220C>T (p.Thr740=)
c.2127C>T (p.Thr709=)
c.2046C>T (p.Thr682=)
c.2022C>T (p.Thr674=)
c.1929C>T (p.Thr643=)
c.1155C>T (p.Thr385=)
c.1068C>T (p.Thr356=)
c.981C>T (p.Thr327=)
c.771+6C>T (n.771+6C>T)
n.788C>T
17g.46014285T>ACA399983509MAPTc.871T>A (p.Ser291Thr)
c.784T>A (p.Ser262Thr)
c.958T>A (p.Ser320Thr)
n.729T>A
n.184T>A
n.127T>A
c.2134T>A (p.Ser712Thr)
c.1843T>A (p.Ser615Thr)
c.778T>A (p.Ser260Thr)
c.1909T>A (p.Ser637Thr)
c.691T>A (p.Ser231Thr)
c.1963T>A (p.Ser655Thr)
c.865T>A (p.Ser289Thr)
n.777-4333T>A
n.6150T>A
c.2221T>A (p.Ser741Thr)
c.2128T>A (p.Ser710Thr)
c.2047T>A (p.Ser683Thr)
c.2023T>A (p.Ser675Thr)
c.1930T>A (p.Ser644Thr)
c.1156T>A (p.Ser386Thr)
c.1069T>A (p.Ser357Thr)
c.982T>A (p.Ser328Thr)
c.771+7T>A (n.771+7T>A)
n.789T>A
17g.46014285T>CCA399983510MAPTc.871T>C (p.Ser291Pro)
c.784T>C (p.Ser262Pro)
c.958T>C (p.Ser320Pro)
n.729T>C
n.184T>C
n.127T>C
c.2134T>C (p.Ser712Pro)
c.1843T>C (p.Ser615Pro)
c.778T>C (p.Ser260Pro)
c.1909T>C (p.Ser637Pro)
c.691T>C (p.Ser231Pro)
c.1963T>C (p.Ser655Pro)
c.865T>C (p.Ser289Pro)
n.777-4333T>C
n.6150T>C
c.2221T>C (p.Ser741Pro)
c.2128T>C (p.Ser710Pro)
c.2047T>C (p.Ser683Pro)
c.2023T>C (p.Ser675Pro)
c.1930T>C (p.Ser644Pro)
c.1156T>C (p.Ser386Pro)
c.1069T>C (p.Ser357Pro)
c.982T>C (p.Ser328Pro)
c.771+7T>C (n.771+7T>C)
n.789T>C
17g.46014285T>GCA399983508MAPTc.871T>G (p.Ser291Ala)
c.784T>G (p.Ser262Ala)
c.958T>G (p.Ser320Ala)
n.729T>G
n.184T>G
n.127T>G
c.2134T>G (p.Ser712Ala)
c.1843T>G (p.Ser615Ala)
c.778T>G (p.Ser260Ala)
c.1909T>G (p.Ser637Ala)
c.691T>G (p.Ser231Ala)
c.1963T>G (p.Ser655Ala)
c.865T>G (p.Ser289Ala)
n.777-4333T>G
n.6150T>G
c.2221T>G (p.Ser741Ala)
c.2128T>G (p.Ser710Ala)
c.2047T>G (p.Ser683Ala)
c.2023T>G (p.Ser675Ala)
c.1930T>G (p.Ser644Ala)
c.1156T>G (p.Ser386Ala)
c.1069T>G (p.Ser357Ala)
c.982T>G (p.Ser328Ala)
c.771+7T>G (n.771+7T>G)
n.789T>G
17g.46014286C>ACA399983511MAPTc.872C>A (p.Ser291Tyr)
c.785C>A (p.Ser262Tyr)
c.959C>A (p.Ser320Tyr)
n.730C>A
n.185C>A
n.128C>A
c.2135C>A (p.Ser712Tyr)
c.1844C>A (p.Ser615Tyr)
c.779C>A (p.Ser260Tyr)
c.1910C>A (p.Ser637Tyr)
c.692C>A (p.Ser231Tyr)
c.1964C>A (p.Ser655Tyr)
c.866C>A (p.Ser289Tyr)
n.777-4332C>A
n.6151C>A
c.2222C>A (p.Ser741Tyr)
c.2129C>A (p.Ser710Tyr)
c.2048C>A (p.Ser683Tyr)
c.2024C>A (p.Ser675Tyr)
c.1931C>A (p.Ser644Tyr)
c.1157C>A (p.Ser386Tyr)
c.1070C>A (p.Ser357Tyr)
c.983C>A (p.Ser328Tyr)
c.771+8C>A (n.771+8C>A)
n.790C>A
17g.46014286C=CA2262102719MAPTc.872C= (p.Ser291=)
c.785C= (p.Ser262=)
c.959C= (p.Ser320=)
n.730C=
n.185C=
n.128C=
c.2135C= (p.Ser712=)
c.1844C= (p.Ser615=)
c.779C= (p.Ser260=)
c.1910C= (p.Ser637=)
c.692C= (p.Ser231=)
c.1964C= (p.Ser655=)
c.866C= (p.Ser289=)
n.777-4332C=
n.6151C=
c.2222C= (p.Ser741=)
c.2129C= (p.Ser710=)
c.2048C= (p.Ser683=)
c.2024C= (p.Ser675=)
c.1931C= (p.Ser644=)
c.1157C= (p.Ser386=)
c.1070C= (p.Ser357=)
c.983C= (p.Ser328=)
c.771+8C= (n.771+8C=)
n.790C=
17g.46014286C>GCA399983512MAPTc.872C>G (p.Ser291Cys)
c.785C>G (p.Ser262Cys)
c.959C>G (p.Ser320Cys)
n.730C>G
n.185C>G
n.128C>G
c.2135C>G (p.Ser712Cys)
c.1844C>G (p.Ser615Cys)
c.779C>G (p.Ser260Cys)
c.1910C>G (p.Ser637Cys)
c.692C>G (p.Ser231Cys)
c.1964C>G (p.Ser655Cys)
c.866C>G (p.Ser289Cys)
n.777-4332C>G
n.6151C>G
c.2222C>G (p.Ser741Cys)
c.2129C>G (p.Ser710Cys)
c.2048C>G (p.Ser683Cys)
c.2024C>G (p.Ser675Cys)
c.1931C>G (p.Ser644Cys)
c.1157C>G (p.Ser386Cys)
c.1070C>G (p.Ser357Cys)
c.983C>G (p.Ser328Cys)
c.771+8C>G (n.771+8C>G)
n.790C>G
17g.46014286C>TCA225475MAPTc.872C>T (p.Ser291Phe)
c.785C>T (p.Ser262Phe)
c.959C>T (p.Ser320Phe)
n.730C>T
n.185C>T
n.128C>T
c.2135C>T (p.Ser712Phe)
c.1844C>T (p.Ser615Phe)
c.779C>T (p.Ser260Phe)
c.1910C>T (p.Ser637Phe)
c.692C>T (p.Ser231Phe)
c.1964C>T (p.Ser655Phe)
c.866C>T (p.Ser289Phe)
n.777-4332C>T
n.6151C>T
c.2222C>T (p.Ser741Phe)
c.2129C>T (p.Ser710Phe)
c.2048C>T (p.Ser683Phe)
c.2024C>T (p.Ser675Phe)
c.1931C>T (p.Ser644Phe)
c.1157C>T (p.Ser386Phe)
c.1070C>T (p.Ser357Phe)
c.983C>T (p.Ser328Phe)
c.771+8C>T (n.771+8C>T)
n.790C>T
 ClinVar dbSNP
17g.46014287C>ACA500371187MAPTc.873C>A (p.Ser291=)
c.786C>A (p.Ser262=)
c.960C>A (p.Ser320=)
n.731C>A
n.186C>A
n.129C>A
c.2136C>A (p.Ser712=)
c.1845C>A (p.Ser615=)
c.780C>A (p.Ser260=)
c.1911C>A (p.Ser637=)
c.693C>A (p.Ser231=)
c.1965C>A (p.Ser655=)
c.867C>A (p.Ser289=)
n.777-4331C>A
n.6152C>A
c.2223C>A (p.Ser741=)
c.2130C>A (p.Ser710=)
c.2049C>A (p.Ser683=)
c.2025C>A (p.Ser675=)
c.1932C>A (p.Ser644=)
c.1158C>A (p.Ser386=)
c.1071C>A (p.Ser357=)
c.984C>A (p.Ser328=)
c.771+9C>A (n.771+9C>A)
n.791C>A
17g.46014287C=CA2262102720MAPTc.873C= (p.Ser291=)
c.786C= (p.Ser262=)
c.960C= (p.Ser320=)
n.731C=
n.186C=
n.129C=
c.2136C= (p.Ser712=)
c.1845C= (p.Ser615=)
c.780C= (p.Ser260=)
c.1911C= (p.Ser637=)
c.693C= (p.Ser231=)
c.1965C= (p.Ser655=)
c.867C= (p.Ser289=)
n.777-4331C=
n.6152C=
c.2223C= (p.Ser741=)
c.2130C= (p.Ser710=)
c.2049C= (p.Ser683=)
c.2025C= (p.Ser675=)
c.1932C= (p.Ser644=)
c.1158C= (p.Ser386=)
c.1071C= (p.Ser357=)
c.984C= (p.Ser328=)
c.771+9C= (n.771+9C=)
n.791C=
17g.46014287C>GCA500371188MAPTc.873C>G (p.Ser291=)
c.786C>G (p.Ser262=)
c.960C>G (p.Ser320=)
n.731C>G
n.186C>G
n.129C>G
c.2136C>G (p.Ser712=)
c.1845C>G (p.Ser615=)
c.780C>G (p.Ser260=)
c.1911C>G (p.Ser637=)
c.693C>G (p.Ser231=)
c.1965C>G (p.Ser655=)
c.867C>G (p.Ser289=)
n.777-4331C>G
n.6152C>G
c.2223C>G (p.Ser741=)
c.2130C>G (p.Ser710=)
c.2049C>G (p.Ser683=)
c.2025C>G (p.Ser675=)
c.1932C>G (p.Ser644=)
c.1158C>G (p.Ser386=)
c.1071C>G (p.Ser357=)
c.984C>G (p.Ser328=)
c.771+9C>G (n.771+9C>G)
n.791C>G
17g.46014287C>TCA500371186MAPTc.873C>T (p.Ser291=)
c.786C>T (p.Ser262=)
c.960C>T (p.Ser320=)
n.731C>T
n.186C>T
n.129C>T
c.2136C>T (p.Ser712=)
c.1845C>T (p.Ser615=)
c.780C>T (p.Ser260=)
c.1911C>T (p.Ser637=)
c.693C>T (p.Ser231=)
c.1965C>T (p.Ser655=)
c.867C>T (p.Ser289=)
n.777-4331C>T
n.6152C>T
c.2223C>T (p.Ser741=)
c.2130C>T (p.Ser710=)
c.2049C>T (p.Ser683=)
c.2025C>T (p.Ser675=)
c.1932C>T (p.Ser644=)
c.1158C>T (p.Ser386=)
c.1071C>T (p.Ser357=)
c.984C>T (p.Ser328=)
c.771+9C>T (n.771+9C>T)
n.791C>T
 dbSNP gnomAD v2 gnomAD v4
17g.46014288A>CCA399983513MAPTc.874A>C (p.Lys292Gln)
c.787A>C (p.Lys263Gln)
c.961A>C (p.Lys321Gln)
n.732A>C
n.187A>C
n.130A>C
c.2137A>C (p.Lys713Gln)
c.1846A>C (p.Lys616Gln)
c.781A>C (p.Lys261Gln)
c.1912A>C (p.Lys638Gln)
c.694A>C (p.Lys232Gln)
c.1966A>C (p.Lys656Gln)
c.868A>C (p.Lys290Gln)
n.777-4330A>C
n.6153A>C
c.2224A>C (p.Lys742Gln)
c.2131A>C (p.Lys711Gln)
c.2050A>C (p.Lys684Gln)
c.2026A>C (p.Lys676Gln)
c.1933A>C (p.Lys645Gln)
c.1159A>C (p.Lys387Gln)
c.1072A>C (p.Lys358Gln)
c.985A>C (p.Lys329Gln)
c.771+10A>C (n.771+10A>C)
n.792A>C
17g.46014288A>GCA399983514MAPTc.874A>G (p.Lys292Glu)
c.787A>G (p.Lys263Glu)
c.961A>G (p.Lys321Glu)
n.732A>G
n.187A>G
n.130A>G
c.2137A>G (p.Lys713Glu)
c.1846A>G (p.Lys616Glu)
c.781A>G (p.Lys261Glu)
c.1912A>G (p.Lys638Glu)
c.694A>G (p.Lys232Glu)
c.1966A>G (p.Lys656Glu)
c.868A>G (p.Lys290Glu)
n.777-4330A>G
n.6153A>G
c.2224A>G (p.Lys742Glu)
c.2131A>G (p.Lys711Glu)
c.2050A>G (p.Lys684Glu)
c.2026A>G (p.Lys676Glu)
c.1933A>G (p.Lys645Glu)
c.1159A>G (p.Lys387Glu)
c.1072A>G (p.Lys358Glu)
c.985A>G (p.Lys329Glu)
c.771+10A>G (n.771+10A>G)
n.792A>G
17g.46014288A>TCA399983515MAPTc.874A>T (p.Lys292Ter)
c.787A>T (p.Lys263Ter)
c.961A>T (p.Lys321Ter)
n.732A>T
n.187A>T
n.130A>T
c.2137A>T (p.Lys713Ter)
c.1846A>T (p.Lys616Ter)
c.781A>T (p.Lys261Ter)
c.1912A>T (p.Lys638Ter)
c.694A>T (p.Lys232Ter)
c.1966A>T (p.Lys656Ter)
c.868A>T (p.Lys290Ter)
n.777-4330A>T
n.6153A>T
c.2224A>T (p.Lys742Ter)
c.2131A>T (p.Lys711Ter)
c.2050A>T (p.Lys684Ter)
c.2026A>T (p.Lys676Ter)
c.1933A>T (p.Lys645Ter)
c.1159A>T (p.Lys387Ter)
c.1072A>T (p.Lys358Ter)
c.985A>T (p.Lys329Ter)
c.771+10A>T (n.771+10A>T)
n.792A>T
17g.46014289A>CCA399983516MAPTc.875A>C (p.Lys292Thr)
c.788A>C (p.Lys263Thr)
c.962A>C (p.Lys321Thr)
n.733A>C
n.188A>C
n.131A>C
c.2138A>C (p.Lys713Thr)
c.1847A>C (p.Lys616Thr)
c.782A>C (p.Lys261Thr)
c.1913A>C (p.Lys638Thr)
c.695A>C (p.Lys232Thr)
c.1967A>C (p.Lys656Thr)
c.869A>C (p.Lys290Thr)
n.777-4329A>C
n.6154A>C
c.2225A>C (p.Lys742Thr)
c.2132A>C (p.Lys711Thr)
c.2051A>C (p.Lys684Thr)
c.2027A>C (p.Lys676Thr)
c.1934A>C (p.Lys645Thr)
c.1160A>C (p.Lys387Thr)
c.1073A>C (p.Lys358Thr)
c.986A>C (p.Lys329Thr)
c.771+11A>C (n.771+11A>C)
n.793A>C
17g.46014289A>GCA399983518MAPTc.875A>G (p.Lys292Arg)
c.788A>G (p.Lys263Arg)
c.962A>G (p.Lys321Arg)
n.733A>G
n.188A>G
n.131A>G
c.2138A>G (p.Lys713Arg)
c.1847A>G (p.Lys616Arg)
c.782A>G (p.Lys261Arg)
c.1913A>G (p.Lys638Arg)
c.695A>G (p.Lys232Arg)
c.1967A>G (p.Lys656Arg)
c.869A>G (p.Lys290Arg)
n.777-4329A>G
n.6154A>G
c.2225A>G (p.Lys742Arg)
c.2132A>G (p.Lys711Arg)
c.2051A>G (p.Lys684Arg)
c.2027A>G (p.Lys676Arg)
c.1934A>G (p.Lys645Arg)
c.1160A>G (p.Lys387Arg)
c.1073A>G (p.Lys358Arg)
c.986A>G (p.Lys329Arg)
c.771+11A>G (n.771+11A>G)
n.793A>G
17g.46014289A>TCA399983517MAPTc.875A>T (p.Lys292Met)
c.788A>T (p.Lys263Met)
c.962A>T (p.Lys321Met)
n.733A>T
n.188A>T
n.131A>T
c.2138A>T (p.Lys713Met)
c.1847A>T (p.Lys616Met)
c.782A>T (p.Lys261Met)
c.1913A>T (p.Lys638Met)
c.695A>T (p.Lys232Met)
c.1967A>T (p.Lys656Met)
c.869A>T (p.Lys290Met)
n.777-4329A>T
n.6154A>T
c.2225A>T (p.Lys742Met)
c.2132A>T (p.Lys711Met)
c.2051A>T (p.Lys684Met)
c.2027A>T (p.Lys676Met)
c.1934A>T (p.Lys645Met)
c.1160A>T (p.Lys387Met)
c.1073A>T (p.Lys358Met)
c.986A>T (p.Lys329Met)
c.771+11A>T (n.771+11A>T)
n.793A>T
17g.46014290G>ACA500371189MAPTc.876G>A (p.Lys292=)
c.789G>A (p.Lys263=)
c.963G>A (p.Lys321=)
n.734G>A
n.189G>A
n.132G>A
c.2139G>A (p.Lys713=)
c.1848G>A (p.Lys616=)
c.783G>A (p.Lys261=)
c.1914G>A (p.Lys638=)
c.696G>A (p.Lys232=)
c.1968G>A (p.Lys656=)
c.870G>A (p.Lys290=)
n.777-4328G>A
n.6155G>A
c.2226G>A (p.Lys742=)
c.2133G>A (p.Lys711=)
c.2052G>A (p.Lys684=)
c.2028G>A (p.Lys676=)
c.1935G>A (p.Lys645=)
c.1161G>A (p.Lys387=)
c.1074G>A (p.Lys358=)
c.987G>A (p.Lys329=)
c.771+12G>A (n.771+12G>A)
n.794G>A
17g.46014290G>CCA399983519MAPTc.876G>C (p.Lys292Asn)
c.789G>C (p.Lys263Asn)
c.963G>C (p.Lys321Asn)
n.734G>C
n.189G>C
n.132G>C
c.2139G>C (p.Lys713Asn)
c.1848G>C (p.Lys616Asn)
c.783G>C (p.Lys261Asn)
c.1914G>C (p.Lys638Asn)
c.696G>C (p.Lys232Asn)
c.1968G>C (p.Lys656Asn)
c.870G>C (p.Lys290Asn)
n.777-4328G>C
n.6155G>C
c.2226G>C (p.Lys742Asn)
c.2133G>C (p.Lys711Asn)
c.2052G>C (p.Lys684Asn)
c.2028G>C (p.Lys676Asn)
c.1935G>C (p.Lys645Asn)
c.1161G>C (p.Lys387Asn)
c.1074G>C (p.Lys358Asn)
c.987G>C (p.Lys329Asn)
c.771+12G>C (n.771+12G>C)
n.794G>C
 dbSNP
17g.46014290G=CA2262102721MAPTc.876G= (p.Lys292=)
c.789G= (p.Lys263=)
c.963G= (p.Lys321=)
n.734G=
n.189G=
n.132G=
c.2139G= (p.Lys713=)
c.1848G= (p.Lys616=)
c.783G= (p.Lys261=)
c.1914G= (p.Lys638=)
c.696G= (p.Lys232=)
c.1968G= (p.Lys656=)
c.870G= (p.Lys290=)
n.777-4328G=
n.6155G=
c.2226G= (p.Lys742=)
c.2133G= (p.Lys711=)
c.2052G= (p.Lys684=)
c.2028G= (p.Lys676=)
c.1935G= (p.Lys645=)
c.1161G= (p.Lys387=)
c.1074G= (p.Lys358=)
c.987G= (p.Lys329=)
c.771+12G= (n.771+12G=)
n.794G=
17g.46014290G>TCA399983520MAPTc.876G>T (p.Lys292Asn)
c.789G>T (p.Lys263Asn)
c.963G>T (p.Lys321Asn)
n.734G>T
n.189G>T
n.132G>T
c.2139G>T (p.Lys713Asn)
c.1848G>T (p.Lys616Asn)
c.783G>T (p.Lys261Asn)
c.1914G>T (p.Lys638Asn)
c.696G>T (p.Lys232Asn)
c.1968G>T (p.Lys656Asn)
c.870G>T (p.Lys290Asn)
n.777-4328G>T
n.6155G>T
c.2226G>T (p.Lys742Asn)
c.2133G>T (p.Lys711Asn)
c.2052G>T (p.Lys684Asn)
c.2028G>T (p.Lys676Asn)
c.1935G>T (p.Lys645Asn)
c.1161G>T (p.Lys387Asn)
c.1074G>T (p.Lys358Asn)
c.987G>T (p.Lys329Asn)
c.771+12G>T (n.771+12G>T)
n.794G>T
17g.46014291T>ACA399983521MAPTc.877T>A (p.Cys293Ser)
c.790T>A (p.Cys264Ser)
c.964T>A (p.Cys322Ser)
n.735T>A
n.190T>A
n.133T>A
c.2140T>A (p.Cys714Ser)
c.1849T>A (p.Cys617Ser)
c.784T>A (p.Cys262Ser)
c.1915T>A (p.Cys639Ser)
c.697T>A (p.Cys233Ser)
c.1969T>A (p.Cys657Ser)
c.871T>A (p.Cys291Ser)
n.777-4327T>A
n.6156T>A
c.2227T>A (p.Cys743Ser)
c.2134T>A (p.Cys712Ser)
c.2053T>A (p.Cys685Ser)
c.2029T>A (p.Cys677Ser)
c.1936T>A (p.Cys646Ser)
c.1162T>A (p.Cys388Ser)
c.1075T>A (p.Cys359Ser)
c.988T>A (p.Cys330Ser)
c.771+13T>A (n.771+13T>A)
n.795T>A
17g.46014291T>CCA399983522MAPTc.877T>C (p.Cys293Arg)
c.790T>C (p.Cys264Arg)
c.964T>C (p.Cys322Arg)
n.735T>C
n.190T>C
n.133T>C
c.2140T>C (p.Cys714Arg)
c.1849T>C (p.Cys617Arg)
c.784T>C (p.Cys262Arg)
c.1915T>C (p.Cys639Arg)
c.697T>C (p.Cys233Arg)
c.1969T>C (p.Cys657Arg)
c.871T>C (p.Cys291Arg)
n.777-4327T>C
n.6156T>C
c.2227T>C (p.Cys743Arg)
c.2134T>C (p.Cys712Arg)
c.2053T>C (p.Cys685Arg)
c.2029T>C (p.Cys677Arg)
c.1936T>C (p.Cys646Arg)
c.1162T>C (p.Cys388Arg)
c.1075T>C (p.Cys359Arg)
c.988T>C (p.Cys330Arg)
c.771+13T>C (n.771+13T>C)
n.795T>C
17g.46014291T>GCA399983523MAPTc.877T>G (p.Cys293Gly)
c.790T>G (p.Cys264Gly)
c.964T>G (p.Cys322Gly)
n.735T>G
n.190T>G
n.133T>G
c.2140T>G (p.Cys714Gly)
c.1849T>G (p.Cys617Gly)
c.784T>G (p.Cys262Gly)
c.1915T>G (p.Cys639Gly)
c.697T>G (p.Cys233Gly)
c.1969T>G (p.Cys657Gly)
c.871T>G (p.Cys291Gly)
n.777-4327T>G
n.6156T>G
c.2227T>G (p.Cys743Gly)
c.2134T>G (p.Cys712Gly)
c.2053T>G (p.Cys685Gly)
c.2029T>G (p.Cys677Gly)
c.1936T>G (p.Cys646Gly)
c.1162T>G (p.Cys388Gly)
c.1075T>G (p.Cys359Gly)
c.988T>G (p.Cys330Gly)
c.771+13T>G (n.771+13T>G)
n.795T>G
 dbSNP
17g.46014292G>ACA399983525MAPTc.878G>A (p.Cys293Tyr)
c.791G>A (p.Cys264Tyr)
c.965G>A (p.Cys322Tyr)
n.736G>A
n.191G>A
n.134G>A
c.2141G>A (p.Cys714Tyr)
c.1850G>A (p.Cys617Tyr)
c.785G>A (p.Cys262Tyr)
c.1916G>A (p.Cys639Tyr)
c.698G>A (p.Cys233Tyr)
c.1970G>A (p.Cys657Tyr)
c.872G>A (p.Cys291Tyr)
n.777-4326G>A
n.6157G>A
c.2228G>A (p.Cys743Tyr)
c.2135G>A (p.Cys712Tyr)
c.2054G>A (p.Cys685Tyr)
c.2030G>A (p.Cys677Tyr)
c.1937G>A (p.Cys646Tyr)
c.1163G>A (p.Cys388Tyr)
c.1076G>A (p.Cys359Tyr)
c.989G>A (p.Cys330Tyr)
c.771+14G>A (n.771+14G>A)
n.796G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46014292G>CCA399983526MAPTc.878G>C (p.Cys293Ser)
c.791G>C (p.Cys264Ser)
c.965G>C (p.Cys322Ser)
n.736G>C
n.191G>C
n.134G>C
c.2141G>C (p.Cys714Ser)
c.1850G>C (p.Cys617Ser)
c.785G>C (p.Cys262Ser)
c.1916G>C (p.Cys639Ser)
c.698G>C (p.Cys233Ser)
c.1970G>C (p.Cys657Ser)
c.872G>C (p.Cys291Ser)
n.777-4326G>C
n.6157G>C
c.2228G>C (p.Cys743Ser)
c.2135G>C (p.Cys712Ser)
c.2054G>C (p.Cys685Ser)
c.2030G>C (p.Cys677Ser)
c.1937G>C (p.Cys646Ser)
c.1163G>C (p.Cys388Ser)
c.1076G>C (p.Cys359Ser)
c.989G>C (p.Cys330Ser)
c.771+14G>C (n.771+14G>C)
n.796G>C
 dbSNP
17g.46014292G=CA2262102722MAPTc.878G= (p.Cys293=)
c.791G= (p.Cys264=)
c.965G= (p.Cys322=)
n.736G=
n.191G=
n.134G=
c.2141G= (p.Cys714=)
c.1850G= (p.Cys617=)
c.785G= (p.Cys262=)
c.1916G= (p.Cys639=)
c.698G= (p.Cys233=)
c.1970G= (p.Cys657=)
c.872G= (p.Cys291=)
n.777-4326G=
n.6157G=
c.2228G= (p.Cys743=)
c.2135G= (p.Cys712=)
c.2054G= (p.Cys685=)
c.2030G= (p.Cys677=)
c.1937G= (p.Cys646=)
c.1163G= (p.Cys388=)
c.1076G= (p.Cys359=)
c.989G= (p.Cys330=)
c.771+14G= (n.771+14G=)
n.796G=
17g.46014292G>TCA399983524MAPTc.878G>T (p.Cys293Phe)
c.791G>T (p.Cys264Phe)
c.965G>T (p.Cys322Phe)
n.736G>T
n.191G>T
n.134G>T
c.2141G>T (p.Cys714Phe)
c.1850G>T (p.Cys617Phe)
c.785G>T (p.Cys262Phe)
c.1916G>T (p.Cys639Phe)
c.698G>T (p.Cys233Phe)
c.1970G>T (p.Cys657Phe)
c.872G>T (p.Cys291Phe)
n.777-4326G>T
n.6157G>T
c.2228G>T (p.Cys743Phe)
c.2135G>T (p.Cys712Phe)
c.2054G>T (p.Cys685Phe)
c.2030G>T (p.Cys677Phe)
c.1937G>T (p.Cys646Phe)
c.1163G>T (p.Cys388Phe)
c.1076G>T (p.Cys359Phe)
c.989G>T (p.Cys330Phe)
c.771+14G>T (n.771+14G>T)
n.796G>T
17g.46014293T>ACA399983528MAPTc.879T>A (p.Cys293Ter)
c.792T>A (p.Cys264Ter)
c.966T>A (p.Cys322Ter)
n.737T>A
n.192T>A
n.135T>A
c.2142T>A (p.Cys714Ter)
c.1851T>A (p.Cys617Ter)
c.786T>A (p.Cys262Ter)
c.1917T>A (p.Cys639Ter)
c.699T>A (p.Cys233Ter)
c.1971T>A (p.Cys657Ter)
c.873T>A (p.Cys291Ter)
n.777-4325T>A
n.6158T>A
c.2229T>A (p.Cys743Ter)
c.2136T>A (p.Cys712Ter)
c.2055T>A (p.Cys685Ter)
c.2031T>A (p.Cys677Ter)
c.1938T>A (p.Cys646Ter)
c.1164T>A (p.Cys388Ter)
c.1077T>A (p.Cys359Ter)
c.990T>A (p.Cys330Ter)
c.771+15T>A (n.771+15T>A)
n.797T>A
17g.46014293T>CCA500371190MAPTc.879T>C (p.Cys293=)
c.792T>C (p.Cys264=)
c.966T>C (p.Cys322=)
n.737T>C
n.192T>C
n.135T>C
c.2142T>C (p.Cys714=)
c.1851T>C (p.Cys617=)
c.786T>C (p.Cys262=)
c.1917T>C (p.Cys639=)
c.699T>C (p.Cys233=)
c.1971T>C (p.Cys657=)
c.873T>C (p.Cys291=)
n.777-4325T>C
n.6158T>C
c.2229T>C (p.Cys743=)
c.2136T>C (p.Cys712=)
c.2055T>C (p.Cys685=)
c.2031T>C (p.Cys677=)
c.1938T>C (p.Cys646=)
c.1164T>C (p.Cys388=)
c.1077T>C (p.Cys359=)
c.990T>C (p.Cys330=)
c.771+15T>C (n.771+15T>C)
n.797T>C
17g.46014293T>GCA399983527MAPTc.879T>G (p.Cys293Trp)
c.792T>G (p.Cys264Trp)
c.966T>G (p.Cys322Trp)
n.737T>G
n.192T>G
n.135T>G
c.2142T>G (p.Cys714Trp)
c.1851T>G (p.Cys617Trp)
c.786T>G (p.Cys262Trp)
c.1917T>G (p.Cys639Trp)
c.699T>G (p.Cys233Trp)
c.1971T>G (p.Cys657Trp)
c.873T>G (p.Cys291Trp)
n.777-4325T>G
n.6158T>G
c.2229T>G (p.Cys743Trp)
c.2136T>G (p.Cys712Trp)
c.2055T>G (p.Cys685Trp)
c.2031T>G (p.Cys677Trp)
c.1938T>G (p.Cys646Trp)
c.1164T>G (p.Cys388Trp)
c.1077T>G (p.Cys359Trp)
c.990T>G (p.Cys330Trp)
c.771+15T>G (n.771+15T>G)
n.797T>G
17g.46014294G>ACA399983531MAPTc.880G>A (p.Gly294Ser)
c.793G>A (p.Gly265Ser)
c.967G>A (p.Gly323Ser)
n.738G>A
n.193G>A
n.136G>A
c.2143G>A (p.Gly715Ser)
c.1852G>A (p.Gly618Ser)
c.787G>A (p.Gly263Ser)
c.1918G>A (p.Gly640Ser)
c.700G>A (p.Gly234Ser)
c.1972G>A (p.Gly658Ser)
c.874G>A (p.Gly292Ser)
n.777-4324G>A
n.6159G>A
c.2230G>A (p.Gly744Ser)
c.2137G>A (p.Gly713Ser)
c.2056G>A (p.Gly686Ser)
c.2032G>A (p.Gly678Ser)
c.1939G>A (p.Gly647Ser)
c.1165G>A (p.Gly389Ser)
c.1078G>A (p.Gly360Ser)
c.991G>A (p.Gly331Ser)
c.771+16G>A (n.771+16G>A)
n.798G>A
17g.46014294G>CCA399983529MAPTc.880G>C (p.Gly294Arg)
c.793G>C (p.Gly265Arg)
c.967G>C (p.Gly323Arg)
n.738G>C
n.193G>C
n.136G>C
c.2143G>C (p.Gly715Arg)
c.1852G>C (p.Gly618Arg)
c.787G>C (p.Gly263Arg)
c.1918G>C (p.Gly640Arg)
c.700G>C (p.Gly234Arg)
c.1972G>C (p.Gly658Arg)
c.874G>C (p.Gly292Arg)
n.777-4324G>C
n.6159G>C
c.2230G>C (p.Gly744Arg)
c.2137G>C (p.Gly713Arg)
c.2056G>C (p.Gly686Arg)
c.2032G>C (p.Gly678Arg)
c.1939G>C (p.Gly647Arg)
c.1165G>C (p.Gly389Arg)
c.1078G>C (p.Gly360Arg)
c.991G>C (p.Gly331Arg)
c.771+16G>C (n.771+16G>C)
n.798G>C
17g.46014294G>TCA399983530MAPTc.880G>T (p.Gly294Cys)
c.793G>T (p.Gly265Cys)
c.967G>T (p.Gly323Cys)
n.738G>T
n.193G>T
n.136G>T
c.2143G>T (p.Gly715Cys)
c.1852G>T (p.Gly618Cys)
c.787G>T (p.Gly263Cys)
c.1918G>T (p.Gly640Cys)
c.700G>T (p.Gly234Cys)
c.1972G>T (p.Gly658Cys)
c.874G>T (p.Gly292Cys)
n.777-4324G>T
n.6159G>T
c.2230G>T (p.Gly744Cys)
c.2137G>T (p.Gly713Cys)
c.2056G>T (p.Gly686Cys)
c.2032G>T (p.Gly678Cys)
c.1939G>T (p.Gly647Cys)
c.1165G>T (p.Gly389Cys)
c.1078G>T (p.Gly360Cys)
c.991G>T (p.Gly331Cys)
c.771+16G>T (n.771+16G>T)
n.798G>T
17g.46014295G>ACA399983532MAPTc.881G>A (p.Gly294Asp)
c.794G>A (p.Gly265Asp)
c.968G>A (p.Gly323Asp)
n.739G>A
n.194G>A
n.137G>A
c.2144G>A (p.Gly715Asp)
c.1853G>A (p.Gly618Asp)
c.788G>A (p.Gly263Asp)
c.1919G>A (p.Gly640Asp)
c.701G>A (p.Gly234Asp)
c.1973G>A (p.Gly658Asp)
c.875G>A (p.Gly292Asp)
n.777-4323G>A
n.6160G>A
c.2231G>A (p.Gly744Asp)
c.2138G>A (p.Gly713Asp)
c.2057G>A (p.Gly686Asp)
c.2033G>A (p.Gly678Asp)
c.1940G>A (p.Gly647Asp)
c.1166G>A (p.Gly389Asp)
c.1079G>A (p.Gly360Asp)
c.992G>A (p.Gly331Asp)
c.771+17G>A (n.771+17G>A)
n.799G>A
17g.46014295G>CCA399983533MAPTc.881G>C (p.Gly294Ala)
c.794G>C (p.Gly265Ala)
c.968G>C (p.Gly323Ala)
n.739G>C
n.194G>C
n.137G>C
c.2144G>C (p.Gly715Ala)
c.1853G>C (p.Gly618Ala)
c.788G>C (p.Gly263Ala)
c.1919G>C (p.Gly640Ala)
c.701G>C (p.Gly234Ala)
c.1973G>C (p.Gly658Ala)
c.875G>C (p.Gly292Ala)
n.777-4323G>C
n.6160G>C
c.2231G>C (p.Gly744Ala)
c.2138G>C (p.Gly713Ala)
c.2057G>C (p.Gly686Ala)
c.2033G>C (p.Gly678Ala)
c.1940G>C (p.Gly647Ala)
c.1166G>C (p.Gly389Ala)
c.1079G>C (p.Gly360Ala)
c.992G>C (p.Gly331Ala)
c.771+17G>C (n.771+17G>C)
n.799G>C
17g.46014295G>TCA399983534MAPTc.881G>T (p.Gly294Val)
c.794G>T (p.Gly265Val)
c.968G>T (p.Gly323Val)
n.739G>T
n.194G>T
n.137G>T
c.2144G>T (p.Gly715Val)
c.1853G>T (p.Gly618Val)
c.788G>T (p.Gly263Val)
c.1919G>T (p.Gly640Val)
c.701G>T (p.Gly234Val)
c.1973G>T (p.Gly658Val)
c.875G>T (p.Gly292Val)
n.777-4323G>T
n.6160G>T
c.2231G>T (p.Gly744Val)
c.2138G>T (p.Gly713Val)
c.2057G>T (p.Gly686Val)
c.2033G>T (p.Gly678Val)
c.1940G>T (p.Gly647Val)
c.1166G>T (p.Gly389Val)
c.1079G>T (p.Gly360Val)
c.992G>T (p.Gly331Val)
c.771+17G>T (n.771+17G>T)
n.799G>T
17g.46014296C>ACA500371192MAPTc.882C>A (p.Gly294=)
c.795C>A (p.Gly265=)
c.969C>A (p.Gly323=)
n.740C>A
n.195C>A
n.138C>A
c.2145C>A (p.Gly715=)
c.1854C>A (p.Gly618=)
c.789C>A (p.Gly263=)
c.1920C>A (p.Gly640=)
c.702C>A (p.Gly234=)
c.1974C>A (p.Gly658=)
c.876C>A (p.Gly292=)
n.777-4322C>A
n.6161C>A
c.2232C>A (p.Gly744=)
c.2139C>A (p.Gly713=)
c.2058C>A (p.Gly686=)
c.2034C>A (p.Gly678=)
c.1941C>A (p.Gly647=)
c.1167C>A (p.Gly389=)
c.1080C>A (p.Gly360=)
c.993C>A (p.Gly331=)
c.771+18C>A (n.771+18C>A)
n.800C>A
17g.46014296C=CA2262102723MAPTc.882C= (p.Gly294=)
c.795C= (p.Gly265=)
c.969C= (p.Gly323=)
n.740C=
n.195C=
n.138C=
c.2145C= (p.Gly715=)
c.1854C= (p.Gly618=)
c.789C= (p.Gly263=)
c.1920C= (p.Gly640=)
c.702C= (p.Gly234=)
c.1974C= (p.Gly658=)
c.876C= (p.Gly292=)
n.777-4322C=
n.6161C=
c.2232C= (p.Gly744=)
c.2139C= (p.Gly713=)
c.2058C= (p.Gly686=)
c.2034C= (p.Gly678=)
c.1941C= (p.Gly647=)
c.1167C= (p.Gly389=)
c.1080C= (p.Gly360=)
c.993C= (p.Gly331=)
c.771+18C= (n.771+18C=)
n.800C=
17g.46014296C>GCA500371191MAPTc.882C>G (p.Gly294=)
c.795C>G (p.Gly265=)
c.969C>G (p.Gly323=)
n.740C>G
n.195C>G
n.138C>G
c.2145C>G (p.Gly715=)
c.1854C>G (p.Gly618=)
c.789C>G (p.Gly263=)
c.1920C>G (p.Gly640=)
c.702C>G (p.Gly234=)
c.1974C>G (p.Gly658=)
c.876C>G (p.Gly292=)
n.777-4322C>G
n.6161C>G
c.2232C>G (p.Gly744=)
c.2139C>G (p.Gly713=)
c.2058C>G (p.Gly686=)
c.2034C>G (p.Gly678=)
c.1941C>G (p.Gly647=)
c.1167C>G (p.Gly389=)
c.1080C>G (p.Gly360=)
c.993C>G (p.Gly331=)
c.771+18C>G (n.771+18C>G)
n.800C>G
17g.46014296C>TCA8618199MAPTc.882C>T (p.Gly294=)
c.795C>T (p.Gly265=)
c.969C>T (p.Gly323=)
n.740C>T
n.195C>T
n.138C>T
c.2145C>T (p.Gly715=)
c.1854C>T (p.Gly618=)
c.789C>T (p.Gly263=)
c.1920C>T (p.Gly640=)
c.702C>T (p.Gly234=)
c.1974C>T (p.Gly658=)
c.876C>T (p.Gly292=)
n.777-4322C>T
n.6161C>T
c.2232C>T (p.Gly744=)
c.2139C>T (p.Gly713=)
c.2058C>T (p.Gly686=)
c.2034C>T (p.Gly678=)
c.1941C>T (p.Gly647=)
c.1167C>T (p.Gly389=)
c.1080C>T (p.Gly360=)
c.993C>T (p.Gly331=)
c.771+18C>T (n.771+18C>T)
n.800C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46014297T>ACA399983535MAPTc.883T>A (p.Ser295Thr)
c.796T>A (p.Ser266Thr)
c.970T>A (p.Ser324Thr)
n.741T>A
n.196T>A
n.139T>A
c.2146T>A (p.Ser716Thr)
c.1855T>A (p.Ser619Thr)
c.790T>A (p.Ser264Thr)
c.1921T>A (p.Ser641Thr)
c.703T>A (p.Ser235Thr)
c.1975T>A (p.Ser659Thr)
c.877T>A (p.Ser293Thr)
n.777-4321T>A
n.6162T>A
c.2233T>A (p.Ser745Thr)
c.2140T>A (p.Ser714Thr)
c.2059T>A (p.Ser687Thr)
c.2035T>A (p.Ser679Thr)
c.1942T>A (p.Ser648Thr)
c.1168T>A (p.Ser390Thr)
c.1081T>A (p.Ser361Thr)
c.994T>A (p.Ser332Thr)
c.771+19T>A (n.771+19T>A)
n.801T>A
17g.46014297T>CCA399983536MAPTc.883T>C (p.Ser295Pro)
c.796T>C (p.Ser266Pro)
c.970T>C (p.Ser324Pro)
n.741T>C
n.196T>C
n.139T>C
c.2146T>C (p.Ser716Pro)
c.1855T>C (p.Ser619Pro)
c.790T>C (p.Ser264Pro)
c.1921T>C (p.Ser641Pro)
c.703T>C (p.Ser235Pro)
c.1975T>C (p.Ser659Pro)
c.877T>C (p.Ser293Pro)
n.777-4321T>C
n.6162T>C
c.2233T>C (p.Ser745Pro)
c.2140T>C (p.Ser714Pro)
c.2059T>C (p.Ser687Pro)
c.2035T>C (p.Ser679Pro)
c.1942T>C (p.Ser648Pro)
c.1168T>C (p.Ser390Pro)
c.1081T>C (p.Ser361Pro)
c.994T>C (p.Ser332Pro)
c.771+19T>C (n.771+19T>C)
n.801T>C
17g.46014297T>GCA399983537MAPTc.883T>G (p.Ser295Ala)
c.796T>G (p.Ser266Ala)
c.970T>G (p.Ser324Ala)
n.741T>G
n.196T>G
n.139T>G
c.2146T>G (p.Ser716Ala)
c.1855T>G (p.Ser619Ala)
c.790T>G (p.Ser264Ala)
c.1921T>G (p.Ser641Ala)
c.703T>G (p.Ser235Ala)
c.1975T>G (p.Ser659Ala)
c.877T>G (p.Ser293Ala)
n.777-4321T>G
n.6162T>G
c.2233T>G (p.Ser745Ala)
c.2140T>G (p.Ser714Ala)
c.2059T>G (p.Ser687Ala)
c.2035T>G (p.Ser679Ala)
c.1942T>G (p.Ser648Ala)
c.1168T>G (p.Ser390Ala)
c.1081T>G (p.Ser361Ala)
c.994T>G (p.Ser332Ala)
c.771+19T>G (n.771+19T>G)
n.801T>G
17g.46014298C>ACA399983538MAPTc.884C>A (p.Ser295Ter)
c.797C>A (p.Ser266Ter)
c.971C>A (p.Ser324Ter)
n.742C>A
n.197C>A
n.140C>A
c.2147C>A (p.Ser716Ter)
c.1856C>A (p.Ser619Ter)
c.791C>A (p.Ser264Ter)
c.1922C>A (p.Ser641Ter)
c.704C>A (p.Ser235Ter)
c.1976C>A (p.Ser659Ter)
c.878C>A (p.Ser293Ter)
n.777-4320C>A
n.6163C>A
c.2234C>A (p.Ser745Ter)
c.2141C>A (p.Ser714Ter)
c.2060C>A (p.Ser687Ter)
c.2036C>A (p.Ser679Ter)
c.1943C>A (p.Ser648Ter)
c.1169C>A (p.Ser390Ter)
c.1082C>A (p.Ser361Ter)
c.995C>A (p.Ser332Ter)
c.771+20C>A (n.771+20C>A)
n.802C>A
17g.46014298C>GCA399983539MAPTc.884C>G (p.Ser295Ter)
c.797C>G (p.Ser266Ter)
c.971C>G (p.Ser324Ter)
n.742C>G
n.197C>G
n.140C>G
c.2147C>G (p.Ser716Ter)
c.1856C>G (p.Ser619Ter)
c.791C>G (p.Ser264Ter)
c.1922C>G (p.Ser641Ter)
c.704C>G (p.Ser235Ter)
c.1976C>G (p.Ser659Ter)
c.878C>G (p.Ser293Ter)
n.777-4320C>G
n.6163C>G
c.2234C>G (p.Ser745Ter)
c.2141C>G (p.Ser714Ter)
c.2060C>G (p.Ser687Ter)
c.2036C>G (p.Ser679Ter)
c.1943C>G (p.Ser648Ter)
c.1169C>G (p.Ser390Ter)
c.1082C>G (p.Ser361Ter)
c.995C>G (p.Ser332Ter)
c.771+20C>G (n.771+20C>G)
n.802C>G
17g.46014298C>TCA399983540MAPTc.884C>T (p.Ser295Leu)
c.797C>T (p.Ser266Leu)
c.971C>T (p.Ser324Leu)
n.742C>T
n.197C>T
n.140C>T
c.2147C>T (p.Ser716Leu)
c.1856C>T (p.Ser619Leu)
c.791C>T (p.Ser264Leu)
c.1922C>T (p.Ser641Leu)
c.704C>T (p.Ser235Leu)
c.1976C>T (p.Ser659Leu)
c.878C>T (p.Ser293Leu)
n.777-4320C>T
n.6163C>T
c.2234C>T (p.Ser745Leu)
c.2141C>T (p.Ser714Leu)
c.2060C>T (p.Ser687Leu)
c.2036C>T (p.Ser679Leu)
c.1943C>T (p.Ser648Leu)
c.1169C>T (p.Ser390Leu)
c.1082C>T (p.Ser361Leu)
c.995C>T (p.Ser332Leu)
c.771+20C>T (n.771+20C>T)
n.802C>T
17g.46014299A=CA2262102724MAPTc.885A= (p.Ser295=)
c.798A= (p.Ser266=)
c.972A= (p.Ser324=)
n.743A=
n.198A=
n.141A=
c.2148A= (p.Ser716=)
c.1857A= (p.Ser619=)
c.792A= (p.Ser264=)
c.1923A= (p.Ser641=)
c.705A= (p.Ser235=)
c.1977A= (p.Ser659=)
c.879A= (p.Ser293=)
n.777-4319A=
n.6164A=
c.2235A= (p.Ser745=)
c.2142A= (p.Ser714=)
c.2061A= (p.Ser687=)
c.2037A= (p.Ser679=)
c.1944A= (p.Ser648=)
c.1170A= (p.Ser390=)
c.1083A= (p.Ser361=)
c.996A= (p.Ser332=)
c.771+21A= (n.771+21A=)
n.803A=
17g.46014299A>CCA500371195MAPTc.885A>C (p.Ser295=)
c.798A>C (p.Ser266=)
c.972A>C (p.Ser324=)
n.743A>C
n.198A>C
n.141A>C
c.2148A>C (p.Ser716=)
c.1857A>C (p.Ser619=)
c.792A>C (p.Ser264=)
c.1923A>C (p.Ser641=)
c.705A>C (p.Ser235=)
c.1977A>C (p.Ser659=)
c.879A>C (p.Ser293=)
n.777-4319A>C
n.6164A>C
c.2235A>C (p.Ser745=)
c.2142A>C (p.Ser714=)
c.2061A>C (p.Ser687=)
c.2037A>C (p.Ser679=)
c.1944A>C (p.Ser648=)
c.1170A>C (p.Ser390=)
c.1083A>C (p.Ser361=)
c.996A>C (p.Ser332=)
c.771+21A>C (n.771+21A>C)
n.803A>C
17g.46014299A>GCA500371193MAPTc.885A>G (p.Ser295=)
c.798A>G (p.Ser266=)
c.972A>G (p.Ser324=)
n.743A>G
n.198A>G
n.141A>G
c.2148A>G (p.Ser716=)
c.1857A>G (p.Ser619=)
c.792A>G (p.Ser264=)
c.1923A>G (p.Ser641=)
c.705A>G (p.Ser235=)
c.1977A>G (p.Ser659=)
c.879A>G (p.Ser293=)
n.777-4319A>G
n.6164A>G
c.2235A>G (p.Ser745=)
c.2142A>G (p.Ser714=)
c.2061A>G (p.Ser687=)
c.2037A>G (p.Ser679=)
c.1944A>G (p.Ser648=)
c.1170A>G (p.Ser390=)
c.1083A>G (p.Ser361=)
c.996A>G (p.Ser332=)
c.771+21A>G (n.771+21A>G)
n.803A>G
17g.46014299A>TCA500371194MAPTc.885A>T (p.Ser295=)
c.798A>T (p.Ser266=)
c.972A>T (p.Ser324=)
n.743A>T
n.198A>T
n.141A>T
c.2148A>T (p.Ser716=)
c.1857A>T (p.Ser619=)
c.792A>T (p.Ser264=)
c.1923A>T (p.Ser641=)
c.705A>T (p.Ser235=)
c.1977A>T (p.Ser659=)
c.879A>T (p.Ser293=)
n.777-4319A>T
n.6164A>T
c.2235A>T (p.Ser745=)
c.2142A>T (p.Ser714=)
c.2061A>T (p.Ser687=)
c.2037A>T (p.Ser679=)
c.1944A>T (p.Ser648=)
c.1170A>T (p.Ser390=)
c.1083A>T (p.Ser361=)
c.996A>T (p.Ser332=)
c.771+21A>T (n.771+21A>T)
n.803A>T
 dbSNP
17g.46014300T>ACA399983542MAPTc.886T>A (p.Leu296Ile)
c.799T>A (p.Leu267Ile)
c.973T>A (p.Leu325Ile)
n.744T>A
n.199T>A
n.142T>A
c.2149T>A (p.Leu717Ile)
c.1858T>A (p.Leu620Ile)
c.793T>A (p.Leu265Ile)
c.1924T>A (p.Leu642Ile)
c.706T>A (p.Leu236Ile)
c.1978T>A (p.Leu660Ile)
c.880T>A (p.Leu294Ile)
n.777-4318T>A
n.6165T>A
c.2236T>A (p.Leu746Ile)
c.2143T>A (p.Leu715Ile)
c.2062T>A (p.Leu688Ile)
c.2038T>A (p.Leu680Ile)
c.1945T>A (p.Leu649Ile)
c.1171T>A (p.Leu391Ile)
c.1084T>A (p.Leu362Ile)
c.997T>A (p.Leu333Ile)
c.771+22T>A (n.771+22T>A)
n.804T>A
17g.46014300T>CCA500371196MAPTc.886T>C (p.Leu296=)
c.799T>C (p.Leu267=)
c.973T>C (p.Leu325=)
n.744T>C
n.199T>C
n.142T>C
c.2149T>C (p.Leu717=)
c.1858T>C (p.Leu620=)
c.793T>C (p.Leu265=)
c.1924T>C (p.Leu642=)
c.706T>C (p.Leu236=)
c.1978T>C (p.Leu660=)
c.880T>C (p.Leu294=)
n.777-4318T>C
n.6165T>C
c.2236T>C (p.Leu746=)
c.2143T>C (p.Leu715=)
c.2062T>C (p.Leu688=)
c.2038T>C (p.Leu680=)
c.1945T>C (p.Leu649=)
c.1171T>C (p.Leu391=)
c.1084T>C (p.Leu362=)
c.997T>C (p.Leu333=)
c.771+22T>C (n.771+22T>C)
n.804T>C
17g.46014300T>GCA399983541MAPTc.886T>G (p.Leu296Val)
c.799T>G (p.Leu267Val)
c.973T>G (p.Leu325Val)
n.744T>G
n.199T>G
n.142T>G
c.2149T>G (p.Leu717Val)
c.1858T>G (p.Leu620Val)
c.793T>G (p.Leu265Val)
c.1924T>G (p.Leu642Val)
c.706T>G (p.Leu236Val)
c.1978T>G (p.Leu660Val)
c.880T>G (p.Leu294Val)
n.777-4318T>G
n.6165T>G
c.2236T>G (p.Leu746Val)
c.2143T>G (p.Leu715Val)
c.2062T>G (p.Leu688Val)
c.2038T>G (p.Leu680Val)
c.1945T>G (p.Leu649Val)
c.1171T>G (p.Leu391Val)
c.1084T>G (p.Leu362Val)
c.997T>G (p.Leu333Val)
c.771+22T>G (n.771+22T>G)
n.804T>G
17g.46014301T>ACA399983543MAPTc.887T>A (p.Leu296Ter)
c.800T>A (p.Leu267Ter)
c.974T>A (p.Leu325Ter)
n.745T>A
n.200T>A
n.143T>A
c.2150T>A (p.Leu717Ter)
c.1859T>A (p.Leu620Ter)
c.794T>A (p.Leu265Ter)
c.1925T>A (p.Leu642Ter)
c.707T>A (p.Leu236Ter)
c.1979T>A (p.Leu660Ter)
c.881T>A (p.Leu294Ter)
n.777-4317T>A
n.6166T>A
c.2237T>A (p.Leu746Ter)
c.2144T>A (p.Leu715Ter)
c.2063T>A (p.Leu688Ter)
c.2039T>A (p.Leu680Ter)
c.1946T>A (p.Leu649Ter)
c.1172T>A (p.Leu391Ter)
c.1085T>A (p.Leu362Ter)
c.998T>A (p.Leu333Ter)
c.771+23T>A (n.771+23T>A)
n.805T>A
17g.46014301T>CCA399983544MAPTc.887T>C (p.Leu296Ser)
c.800T>C (p.Leu267Ser)
c.974T>C (p.Leu325Ser)
n.745T>C
n.200T>C
n.143T>C
c.2150T>C (p.Leu717Ser)
c.1859T>C (p.Leu620Ser)
c.794T>C (p.Leu265Ser)
c.1925T>C (p.Leu642Ser)
c.707T>C (p.Leu236Ser)
c.1979T>C (p.Leu660Ser)
c.881T>C (p.Leu294Ser)
n.777-4317T>C
n.6166T>C
c.2237T>C (p.Leu746Ser)
c.2144T>C (p.Leu715Ser)
c.2063T>C (p.Leu688Ser)
c.2039T>C (p.Leu680Ser)
c.1946T>C (p.Leu649Ser)
c.1172T>C (p.Leu391Ser)
c.1085T>C (p.Leu362Ser)
c.998T>C (p.Leu333Ser)
c.771+23T>C (n.771+23T>C)
n.805T>C
17g.46014301T>GCA399983545MAPTc.887T>G (p.Leu296Ter)
c.800T>G (p.Leu267Ter)
c.974T>G (p.Leu325Ter)
n.745T>G
n.200T>G
n.143T>G
c.2150T>G (p.Leu717Ter)
c.1859T>G (p.Leu620Ter)
c.794T>G (p.Leu265Ter)
c.1925T>G (p.Leu642Ter)
c.707T>G (p.Leu236Ter)
c.1979T>G (p.Leu660Ter)
c.881T>G (p.Leu294Ter)
n.777-4317T>G
n.6166T>G
c.2237T>G (p.Leu746Ter)
c.2144T>G (p.Leu715Ter)
c.2063T>G (p.Leu688Ter)
c.2039T>G (p.Leu680Ter)
c.1946T>G (p.Leu649Ter)
c.1172T>G (p.Leu391Ter)
c.1085T>G (p.Leu362Ter)
c.998T>G (p.Leu333Ter)
c.771+23T>G (n.771+23T>G)
n.805T>G
17g.46014302A>CCA399983546MAPTc.888A>C (p.Leu296Phe)
c.801A>C (p.Leu267Phe)
c.975A>C (p.Leu325Phe)
n.746A>C
n.201A>C
n.144A>C
c.2151A>C (p.Leu717Phe)
c.1860A>C (p.Leu620Phe)
c.795A>C (p.Leu265Phe)
c.1926A>C (p.Leu642Phe)
c.708A>C (p.Leu236Phe)
c.1980A>C (p.Leu660Phe)
c.882A>C (p.Leu294Phe)
n.777-4316A>C
n.6167A>C
c.2238A>C (p.Leu746Phe)
c.2145A>C (p.Leu715Phe)
c.2064A>C (p.Leu688Phe)
c.2040A>C (p.Leu680Phe)
c.1947A>C (p.Leu649Phe)
c.1173A>C (p.Leu391Phe)
c.1086A>C (p.Leu362Phe)
c.999A>C (p.Leu333Phe)
c.771+24A>C (n.771+24A>C)
n.806A>C
17g.46014302A>GCA500371197MAPTc.888A>G (p.Leu296=)
c.801A>G (p.Leu267=)
c.975A>G (p.Leu325=)
n.746A>G
n.201A>G
n.144A>G
c.2151A>G (p.Leu717=)
c.1860A>G (p.Leu620=)
c.795A>G (p.Leu265=)
c.1926A>G (p.Leu642=)
c.708A>G (p.Leu236=)
c.1980A>G (p.Leu660=)
c.882A>G (p.Leu294=)
n.777-4316A>G
n.6167A>G
c.2238A>G (p.Leu746=)
c.2145A>G (p.Leu715=)
c.2064A>G (p.Leu688=)
c.2040A>G (p.Leu680=)
c.1947A>G (p.Leu649=)
c.1173A>G (p.Leu391=)
c.1086A>G (p.Leu362=)
c.999A>G (p.Leu333=)
c.771+24A>G (n.771+24A>G)
n.806A>G
17g.46014302A>TCA399983547MAPTc.888A>T (p.Leu296Phe)
c.801A>T (p.Leu267Phe)
c.975A>T (p.Leu325Phe)
n.746A>T
n.201A>T
n.144A>T
c.2151A>T (p.Leu717Phe)
c.1860A>T (p.Leu620Phe)
c.795A>T (p.Leu265Phe)
c.1926A>T (p.Leu642Phe)
c.708A>T (p.Leu236Phe)
c.1980A>T (p.Leu660Phe)
c.882A>T (p.Leu294Phe)
n.777-4316A>T
n.6167A>T
c.2238A>T (p.Leu746Phe)
c.2145A>T (p.Leu715Phe)
c.2064A>T (p.Leu688Phe)
c.2040A>T (p.Leu680Phe)
c.1947A>T (p.Leu649Phe)
c.1173A>T (p.Leu391Phe)
c.1086A>T (p.Leu362Phe)
c.999A>T (p.Leu333Phe)
c.771+24A>T (n.771+24A>T)
n.806A>T
17g.46014303G>ACA399983548MAPTc.889G>A (p.Gly297Ser)
c.802G>A (p.Gly268Ser)
c.976G>A (p.Gly326Ser)
n.747G>A
n.202G>A
n.145G>A
c.2152G>A (p.Gly718Ser)
c.1861G>A (p.Gly621Ser)
c.796G>A (p.Gly266Ser)
c.1927G>A (p.Gly643Ser)
c.709G>A (p.Gly237Ser)
c.1981G>A (p.Gly661Ser)
c.883G>A (p.Gly295Ser)
n.777-4315G>A
n.6168G>A
c.2239G>A (p.Gly747Ser)
c.2146G>A (p.Gly716Ser)
c.2065G>A (p.Gly689Ser)
c.2041G>A (p.Gly681Ser)
c.1948G>A (p.Gly650Ser)
c.1174G>A (p.Gly392Ser)
c.1087G>A (p.Gly363Ser)
c.1000G>A (p.Gly334Ser)
c.771+25G>A (n.771+25G>A)
n.807G>A
17g.46014303G>CCA399983549MAPTc.889G>C (p.Gly297Arg)
c.802G>C (p.Gly268Arg)
c.976G>C (p.Gly326Arg)
n.747G>C
n.202G>C
n.145G>C
c.2152G>C (p.Gly718Arg)
c.1861G>C (p.Gly621Arg)
c.796G>C (p.Gly266Arg)
c.1927G>C (p.Gly643Arg)
c.709G>C (p.Gly237Arg)
c.1981G>C (p.Gly661Arg)
c.883G>C (p.Gly295Arg)
n.777-4315G>C
n.6168G>C
c.2239G>C (p.Gly747Arg)
c.2146G>C (p.Gly716Arg)
c.2065G>C (p.Gly689Arg)
c.2041G>C (p.Gly681Arg)
c.1948G>C (p.Gly650Arg)
c.1174G>C (p.Gly392Arg)
c.1087G>C (p.Gly363Arg)
c.1000G>C (p.Gly334Arg)
c.771+25G>C (n.771+25G>C)
n.807G>C
17g.46014303G>TCA399983550MAPTc.889G>T (p.Gly297Cys)
c.802G>T (p.Gly268Cys)
c.976G>T (p.Gly326Cys)
n.747G>T
n.202G>T
n.145G>T
c.2152G>T (p.Gly718Cys)
c.1861G>T (p.Gly621Cys)
c.796G>T (p.Gly266Cys)
c.1927G>T (p.Gly643Cys)
c.709G>T (p.Gly237Cys)
c.1981G>T (p.Gly661Cys)
c.883G>T (p.Gly295Cys)
n.777-4315G>T
n.6168G>T
c.2239G>T (p.Gly747Cys)
c.2146G>T (p.Gly716Cys)
c.2065G>T (p.Gly689Cys)
c.2041G>T (p.Gly681Cys)
c.1948G>T (p.Gly650Cys)
c.1174G>T (p.Gly392Cys)
c.1087G>T (p.Gly363Cys)
c.1000G>T (p.Gly334Cys)
c.771+25G>T (n.771+25G>T)
n.807G>T
17g.46014304G>ACA399983551MAPTc.890G>A (p.Gly297Asp)
c.803G>A (p.Gly268Asp)
c.977G>A (p.Gly326Asp)
n.748G>A
n.203G>A
n.146G>A
c.2153G>A (p.Gly718Asp)
c.1862G>A (p.Gly621Asp)
c.797G>A (p.Gly266Asp)
c.1928G>A (p.Gly643Asp)
c.710G>A (p.Gly237Asp)
c.1982G>A (p.Gly661Asp)
c.884G>A (p.Gly295Asp)
n.777-4314G>A
n.6169G>A
c.2240G>A (p.Gly747Asp)
c.2147G>A (p.Gly716Asp)
c.2066G>A (p.Gly689Asp)
c.2042G>A (p.Gly681Asp)
c.1949G>A (p.Gly650Asp)
c.1175G>A (p.Gly392Asp)
c.1088G>A (p.Gly363Asp)
c.1001G>A (p.Gly334Asp)
c.771+26G>A (n.771+26G>A)
n.808G>A
17g.46014304G>CCA399983552MAPTc.890G>C (p.Gly297Ala)
c.803G>C (p.Gly268Ala)
c.977G>C (p.Gly326Ala)
n.748G>C
n.203G>C
n.146G>C
c.2153G>C (p.Gly718Ala)
c.1862G>C (p.Gly621Ala)
c.797G>C (p.Gly266Ala)
c.1928G>C (p.Gly643Ala)
c.710G>C (p.Gly237Ala)
c.1982G>C (p.Gly661Ala)
c.884G>C (p.Gly295Ala)
n.777-4314G>C
n.6169G>C
c.2240G>C (p.Gly747Ala)
c.2147G>C (p.Gly716Ala)
c.2066G>C (p.Gly689Ala)
c.2042G>C (p.Gly681Ala)
c.1949G>C (p.Gly650Ala)
c.1175G>C (p.Gly392Ala)
c.1088G>C (p.Gly363Ala)
c.1001G>C (p.Gly334Ala)
c.771+26G>C (n.771+26G>C)
n.808G>C
17g.46014304G>TCA399983553MAPTc.890G>T (p.Gly297Val)
c.803G>T (p.Gly268Val)
c.977G>T (p.Gly326Val)
n.748G>T
n.203G>T
n.146G>T
c.2153G>T (p.Gly718Val)
c.1862G>T (p.Gly621Val)
c.797G>T (p.Gly266Val)
c.1928G>T (p.Gly643Val)
c.710G>T (p.Gly237Val)
c.1982G>T (p.Gly661Val)
c.884G>T (p.Gly295Val)
n.777-4314G>T
n.6169G>T
c.2240G>T (p.Gly747Val)
c.2147G>T (p.Gly716Val)
c.2066G>T (p.Gly689Val)
c.2042G>T (p.Gly681Val)
c.1949G>T (p.Gly650Val)
c.1175G>T (p.Gly392Val)
c.1088G>T (p.Gly363Val)
c.1001G>T (p.Gly334Val)
c.771+26G>T (n.771+26G>T)
n.808G>T
17g.46014305C>ACA500371198MAPTc.891C>A (p.Gly297=)
c.804C>A (p.Gly268=)
c.978C>A (p.Gly326=)
n.749C>A
n.204C>A
n.147C>A
c.2154C>A (p.Gly718=)
c.1863C>A (p.Gly621=)
c.798C>A (p.Gly266=)
c.1929C>A (p.Gly643=)
c.711C>A (p.Gly237=)
c.1983C>A (p.Gly661=)
c.885C>A (p.Gly295=)
n.777-4313C>A
n.6170C>A
c.2241C>A (p.Gly747=)
c.2148C>A (p.Gly716=)
c.2067C>A (p.Gly689=)
c.2043C>A (p.Gly681=)
c.1950C>A (p.Gly650=)
c.1176C>A (p.Gly392=)
c.1089C>A (p.Gly363=)
c.1002C>A (p.Gly334=)
c.771+27C>A (n.771+27C>A)
n.809C>A
 gnomAD v4
17g.46014305C=CA2262102725MAPTc.891C= (p.Gly297=)
c.804C= (p.Gly268=)
c.978C= (p.Gly326=)
n.749C=
n.204C=
n.147C=
c.2154C= (p.Gly718=)
c.1863C= (p.Gly621=)
c.798C= (p.Gly266=)
c.1929C= (p.Gly643=)
c.711C= (p.Gly237=)
c.1983C= (p.Gly661=)
c.885C= (p.Gly295=)
n.777-4313C=
n.6170C=
c.2241C= (p.Gly747=)
c.2148C= (p.Gly716=)
c.2067C= (p.Gly689=)
c.2043C= (p.Gly681=)
c.1950C= (p.Gly650=)
c.1176C= (p.Gly392=)
c.1089C= (p.Gly363=)
c.1002C= (p.Gly334=)
c.771+27C= (n.771+27C=)
n.809C=
17g.46014305C>GCA8618200MAPTc.891C>G (p.Gly297=)
c.804C>G (p.Gly268=)
c.978C>G (p.Gly326=)
n.749C>G
n.204C>G
n.147C>G
c.2154C>G (p.Gly718=)
c.1863C>G (p.Gly621=)
c.798C>G (p.Gly266=)
c.1929C>G (p.Gly643=)
c.711C>G (p.Gly237=)
c.1983C>G (p.Gly661=)
c.885C>G (p.Gly295=)
n.777-4313C>G
n.6170C>G
c.2241C>G (p.Gly747=)
c.2148C>G (p.Gly716=)
c.2067C>G (p.Gly689=)
c.2043C>G (p.Gly681=)
c.1950C>G (p.Gly650=)
c.1176C>G (p.Gly392=)
c.1089C>G (p.Gly363=)
c.1002C>G (p.Gly334=)
c.771+27C>G (n.771+27C>G)
n.809C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46014305C>TCA500371199MAPTc.891C>T (p.Gly297=)
c.804C>T (p.Gly268=)
c.978C>T (p.Gly326=)
n.749C>T
n.204C>T
n.147C>T
c.2154C>T (p.Gly718=)
c.1863C>T (p.Gly621=)
c.798C>T (p.Gly266=)
c.1929C>T (p.Gly643=)
c.711C>T (p.Gly237=)
c.1983C>T (p.Gly661=)
c.885C>T (p.Gly295=)
n.777-4313C>T
n.6170C>T
c.2241C>T (p.Gly747=)
c.2148C>T (p.Gly716=)
c.2067C>T (p.Gly689=)
c.2043C>T (p.Gly681=)
c.1950C>T (p.Gly650=)
c.1176C>T (p.Gly392=)
c.1089C>T (p.Gly363=)
c.1002C>T (p.Gly334=)
c.771+27C>T (n.771+27C>T)
n.809C>T
17g.46014306A>CCA399983555MAPTc.892A>C (p.Asn298His)
c.805A>C (p.Asn269His)
c.979A>C (p.Asn327His)
n.750A>C
n.205A>C
n.148A>C
c.2155A>C (p.Asn719His)
c.1864A>C (p.Asn622His)
c.799A>C (p.Asn267His)
c.1930A>C (p.Asn644His)
c.712A>C (p.Asn238His)
c.1984A>C (p.Asn662His)
c.886A>C (p.Asn296His)
n.777-4312A>C
n.6171A>C
c.2242A>C (p.Asn748His)
c.2149A>C (p.Asn717His)
c.2068A>C (p.Asn690His)
c.2044A>C (p.Asn682His)
c.1951A>C (p.Asn651His)
c.1177A>C (p.Asn393His)
c.1090A>C (p.Asn364His)
c.1003A>C (p.Asn335His)
c.771+28A>C (n.771+28A>C)
n.810A>C
17g.46014306A>GCA399983556MAPTc.892A>G (p.Asn298Asp)
c.805A>G (p.Asn269Asp)
c.979A>G (p.Asn327Asp)
n.750A>G
n.205A>G
n.148A>G
c.2155A>G (p.Asn719Asp)
c.1864A>G (p.Asn622Asp)
c.799A>G (p.Asn267Asp)
c.1930A>G (p.Asn644Asp)
c.712A>G (p.Asn238Asp)
c.1984A>G (p.Asn662Asp)
c.886A>G (p.Asn296Asp)
n.777-4312A>G
n.6171A>G
c.2242A>G (p.Asn748Asp)
c.2149A>G (p.Asn717Asp)
c.2068A>G (p.Asn690Asp)
c.2044A>G (p.Asn682Asp)
c.1951A>G (p.Asn651Asp)
c.1177A>G (p.Asn393Asp)
c.1090A>G (p.Asn364Asp)
c.1003A>G (p.Asn335Asp)
c.771+28A>G (n.771+28A>G)
n.810A>G
17g.46014306A>TCA399983554MAPTc.892A>T (p.Asn298Tyr)
c.805A>T (p.Asn269Tyr)
c.979A>T (p.Asn327Tyr)
n.750A>T
n.205A>T
n.148A>T
c.2155A>T (p.Asn719Tyr)
c.1864A>T (p.Asn622Tyr)
c.799A>T (p.Asn267Tyr)
c.1930A>T (p.Asn644Tyr)
c.712A>T (p.Asn238Tyr)
c.1984A>T (p.Asn662Tyr)
c.886A>T (p.Asn296Tyr)
n.777-4312A>T
n.6171A>T
c.2242A>T (p.Asn748Tyr)
c.2149A>T (p.Asn717Tyr)
c.2068A>T (p.Asn690Tyr)
c.2044A>T (p.Asn682Tyr)
c.1951A>T (p.Asn651Tyr)
c.1177A>T (p.Asn393Tyr)
c.1090A>T (p.Asn364Tyr)
c.1003A>T (p.Asn335Tyr)
c.771+28A>T (n.771+28A>T)
n.810A>T
17g.46014307A>CCA399983557MAPTc.893A>C (p.Asn298Thr)
c.806A>C (p.Asn269Thr)
c.980A>C (p.Asn327Thr)
n.751A>C
n.206A>C
n.149A>C
c.2156A>C (p.Asn719Thr)
c.1865A>C (p.Asn622Thr)
c.800A>C (p.Asn267Thr)
c.1931A>C (p.Asn644Thr)
c.713A>C (p.Asn238Thr)
c.1985A>C (p.Asn662Thr)
c.887A>C (p.Asn296Thr)
n.777-4311A>C
n.6172A>C
c.2243A>C (p.Asn748Thr)
c.2150A>C (p.Asn717Thr)
c.2069A>C (p.Asn690Thr)
c.2045A>C (p.Asn682Thr)
c.1952A>C (p.Asn651Thr)
c.1178A>C (p.Asn393Thr)
c.1091A>C (p.Asn364Thr)
c.1004A>C (p.Asn335Thr)
c.771+29A>C (n.771+29A>C)
n.811A>C
17g.46014307A>GCA399983558MAPTc.893A>G (p.Asn298Ser)
c.806A>G (p.Asn269Ser)
c.980A>G (p.Asn327Ser)
n.751A>G
n.206A>G
n.149A>G
c.2156A>G (p.Asn719Ser)
c.1865A>G (p.Asn622Ser)
c.800A>G (p.Asn267Ser)
c.1931A>G (p.Asn644Ser)
c.713A>G (p.Asn238Ser)
c.1985A>G (p.Asn662Ser)
c.887A>G (p.Asn296Ser)
n.777-4311A>G
n.6172A>G
c.2243A>G (p.Asn748Ser)
c.2150A>G (p.Asn717Ser)
c.2069A>G (p.Asn690Ser)
c.2045A>G (p.Asn682Ser)
c.1952A>G (p.Asn651Ser)
c.1178A>G (p.Asn393Ser)
c.1091A>G (p.Asn364Ser)
c.1004A>G (p.Asn335Ser)
c.771+29A>G (n.771+29A>G)
n.811A>G
17g.46014307A>TCA399983559MAPTc.893A>T (p.Asn298Ile)
c.806A>T (p.Asn269Ile)
c.980A>T (p.Asn327Ile)
n.751A>T
n.206A>T
n.149A>T
c.2156A>T (p.Asn719Ile)
c.1865A>T (p.Asn622Ile)
c.800A>T (p.Asn267Ile)
c.1931A>T (p.Asn644Ile)
c.713A>T (p.Asn238Ile)
c.1985A>T (p.Asn662Ile)
c.887A>T (p.Asn296Ile)
n.777-4311A>T
n.6172A>T
c.2243A>T (p.Asn748Ile)
c.2150A>T (p.Asn717Ile)
c.2069A>T (p.Asn690Ile)
c.2045A>T (p.Asn682Ile)
c.1952A>T (p.Asn651Ile)
c.1178A>T (p.Asn393Ile)
c.1091A>T (p.Asn364Ile)
c.1004A>T (p.Asn335Ile)
c.771+29A>T (n.771+29A>T)
n.811A>T
17g.46014308C>ACA399983560MAPTc.894C>A (p.Asn298Lys)
c.807C>A (p.Asn269Lys)
c.981C>A (p.Asn327Lys)
n.752C>A
n.207C>A
n.150C>A
c.2157C>A (p.Asn719Lys)
c.1866C>A (p.Asn622Lys)
c.801C>A (p.Asn267Lys)
c.1932C>A (p.Asn644Lys)
c.714C>A (p.Asn238Lys)
c.1986C>A (p.Asn662Lys)
c.888C>A (p.Asn296Lys)
n.777-4310C>A
n.6173C>A
c.2244C>A (p.Asn748Lys)
c.2151C>A (p.Asn717Lys)
c.2070C>A (p.Asn690Lys)
c.2046C>A (p.Asn682Lys)
c.1953C>A (p.Asn651Lys)
c.1179C>A (p.Asn393Lys)
c.1092C>A (p.Asn364Lys)
c.1005C>A (p.Asn335Lys)
c.771+30C>A (n.771+30C>A)
n.812C>A
17g.46014308C=CA2262102726MAPTc.894C= (p.Asn298=)
c.807C= (p.Asn269=)
c.981C= (p.Asn327=)
n.752C=
n.207C=
n.150C=
c.2157C= (p.Asn719=)
c.1866C= (p.Asn622=)
c.801C= (p.Asn267=)
c.1932C= (p.Asn644=)
c.714C= (p.Asn238=)
c.1986C= (p.Asn662=)
c.888C= (p.Asn296=)
n.777-4310C=
n.6173C=
c.2244C= (p.Asn748=)
c.2151C= (p.Asn717=)
c.2070C= (p.Asn690=)
c.2046C= (p.Asn682=)
c.1953C= (p.Asn651=)
c.1179C= (p.Asn393=)
c.1092C= (p.Asn364=)
c.1005C= (p.Asn335=)
c.771+30C= (n.771+30C=)
n.812C=
17g.46014308C>GCA399983561MAPTc.894C>G (p.Asn298Lys)
c.807C>G (p.Asn269Lys)
c.981C>G (p.Asn327Lys)
n.752C>G
n.207C>G
n.150C>G
c.2157C>G (p.Asn719Lys)
c.1866C>G (p.Asn622Lys)
c.801C>G (p.Asn267Lys)
c.1932C>G (p.Asn644Lys)
c.714C>G (p.Asn238Lys)
c.1986C>G (p.Asn662Lys)
c.888C>G (p.Asn296Lys)
n.777-4310C>G
n.6173C>G
c.2244C>G (p.Asn748Lys)
c.2151C>G (p.Asn717Lys)
c.2070C>G (p.Asn690Lys)
c.2046C>G (p.Asn682Lys)
c.1953C>G (p.Asn651Lys)
c.1179C>G (p.Asn393Lys)
c.1092C>G (p.Asn364Lys)
c.1005C>G (p.Asn335Lys)
c.771+30C>G (n.771+30C>G)
n.812C>G
17g.46014308C>TCA500371200MAPTc.894C>T (p.Asn298=)
c.807C>T (p.Asn269=)
c.981C>T (p.Asn327=)
n.752C>T
n.207C>T
n.150C>T
c.2157C>T (p.Asn719=)
c.1866C>T (p.Asn622=)
c.801C>T (p.Asn267=)
c.1932C>T (p.Asn644=)
c.714C>T (p.Asn238=)
c.1986C>T (p.Asn662=)
c.888C>T (p.Asn296=)
n.777-4310C>T
n.6173C>T
c.2244C>T (p.Asn748=)
c.2151C>T (p.Asn717=)
c.2070C>T (p.Asn690=)
c.2046C>T (p.Asn682=)
c.1953C>T (p.Asn651=)
c.1179C>T (p.Asn393=)
c.1092C>T (p.Asn364=)
c.1005C>T (p.Asn335=)
c.771+30C>T (n.771+30C>T)
n.812C>T
 dbSNP
17g.46014309A>CCA399983562MAPTc.895A>C (p.Ile299Leu)
c.808A>C (p.Ile270Leu)
c.982A>C (p.Ile328Leu)
n.753A>C
n.208A>C
n.151A>C
c.2158A>C (p.Ile720Leu)
c.1867A>C (p.Ile623Leu)
c.802A>C (p.Ile268Leu)
c.1933A>C (p.Ile645Leu)
c.715A>C (p.Ile239Leu)
c.1987A>C (p.Ile663Leu)
c.889A>C (p.Ile297Leu)
n.777-4309A>C
n.6174A>C
c.2245A>C (p.Ile749Leu)
c.2152A>C (p.Ile718Leu)
c.2071A>C (p.Ile691Leu)
c.2047A>C (p.Ile683Leu)
c.1954A>C (p.Ile652Leu)
c.1180A>C (p.Ile394Leu)
c.1093A>C (p.Ile365Leu)
c.1006A>C (p.Ile336Leu)
c.771+31A>C (n.771+31A>C)
n.813A>C
17g.46014309A>GCA399983563MAPTc.895A>G (p.Ile299Val)
c.808A>G (p.Ile270Val)
c.982A>G (p.Ile328Val)
n.753A>G
n.208A>G
n.151A>G
c.2158A>G (p.Ile720Val)
c.1867A>G (p.Ile623Val)
c.802A>G (p.Ile268Val)
c.1933A>G (p.Ile645Val)
c.715A>G (p.Ile239Val)
c.1987A>G (p.Ile663Val)
c.889A>G (p.Ile297Val)
n.777-4309A>G
n.6174A>G
c.2245A>G (p.Ile749Val)
c.2152A>G (p.Ile718Val)
c.2071A>G (p.Ile691Val)
c.2047A>G (p.Ile683Val)
c.1954A>G (p.Ile652Val)
c.1180A>G (p.Ile394Val)
c.1093A>G (p.Ile365Val)
c.1006A>G (p.Ile336Val)
c.771+31A>G (n.771+31A>G)
n.813A>G
17g.46014309A>TCA399983564MAPTc.895A>T (p.Ile299Phe)
c.808A>T (p.Ile270Phe)
c.982A>T (p.Ile328Phe)
n.753A>T
n.208A>T
n.151A>T
c.2158A>T (p.Ile720Phe)
c.1867A>T (p.Ile623Phe)
c.802A>T (p.Ile268Phe)
c.1933A>T (p.Ile645Phe)
c.715A>T (p.Ile239Phe)
c.1987A>T (p.Ile663Phe)
c.889A>T (p.Ile297Phe)
n.777-4309A>T
n.6174A>T
c.2245A>T (p.Ile749Phe)
c.2152A>T (p.Ile718Phe)
c.2071A>T (p.Ile691Phe)
c.2047A>T (p.Ile683Phe)
c.1954A>T (p.Ile652Phe)
c.1180A>T (p.Ile394Phe)
c.1093A>T (p.Ile365Phe)
c.1006A>T (p.Ile336Phe)
c.771+31A>T (n.771+31A>T)
n.813A>T
17g.46014310T>ACA399983565MAPTc.896T>A (p.Ile299Asn)
c.809T>A (p.Ile270Asn)
c.983T>A (p.Ile328Asn)
n.754T>A
n.209T>A
n.152T>A
c.2159T>A (p.Ile720Asn)
c.1868T>A (p.Ile623Asn)
c.803T>A (p.Ile268Asn)
c.1934T>A (p.Ile645Asn)
c.716T>A (p.Ile239Asn)
c.1988T>A (p.Ile663Asn)
c.890T>A (p.Ile297Asn)
n.777-4308T>A
n.6175T>A
c.2246T>A (p.Ile749Asn)
c.2153T>A (p.Ile718Asn)
c.2072T>A (p.Ile691Asn)
c.2048T>A (p.Ile683Asn)
c.1955T>A (p.Ile652Asn)
c.1181T>A (p.Ile394Asn)
c.1094T>A (p.Ile365Asn)
c.1007T>A (p.Ile336Asn)
c.771+32T>A (n.771+32T>A)
n.814T>A
17g.46014310T>CCA399983566MAPTc.896T>C (p.Ile299Thr)
c.809T>C (p.Ile270Thr)
c.983T>C (p.Ile328Thr)
n.754T>C
n.209T>C
n.152T>C
c.2159T>C (p.Ile720Thr)
c.1868T>C (p.Ile623Thr)
c.803T>C (p.Ile268Thr)
c.1934T>C (p.Ile645Thr)
c.716T>C (p.Ile239Thr)
c.1988T>C (p.Ile663Thr)
c.890T>C (p.Ile297Thr)
n.777-4308T>C
n.6175T>C
c.2246T>C (p.Ile749Thr)
c.2153T>C (p.Ile718Thr)
c.2072T>C (p.Ile691Thr)
c.2048T>C (p.Ile683Thr)
c.1955T>C (p.Ile652Thr)
c.1181T>C (p.Ile394Thr)
c.1094T>C (p.Ile365Thr)
c.1007T>C (p.Ile336Thr)
c.771+32T>C (n.771+32T>C)
n.814T>C
17g.46014310T>GCA399983567MAPTc.896T>G (p.Ile299Ser)
c.809T>G (p.Ile270Ser)
c.983T>G (p.Ile328Ser)
n.754T>G
n.209T>G
n.152T>G
c.2159T>G (p.Ile720Ser)
c.1868T>G (p.Ile623Ser)
c.803T>G (p.Ile268Ser)
c.1934T>G (p.Ile645Ser)
c.716T>G (p.Ile239Ser)
c.1988T>G (p.Ile663Ser)
c.890T>G (p.Ile297Ser)
n.777-4308T>G
n.6175T>G
c.2246T>G (p.Ile749Ser)
c.2153T>G (p.Ile718Ser)
c.2072T>G (p.Ile691Ser)
c.2048T>G (p.Ile683Ser)
c.1955T>G (p.Ile652Ser)
c.1181T>G (p.Ile394Ser)
c.1094T>G (p.Ile365Ser)
c.1007T>G (p.Ile336Ser)
c.771+32T>G (n.771+32T>G)
n.814T>G
17g.46014311C>ACA500371203MAPTc.897C>A (p.Ile299=)
c.810C>A (p.Ile270=)
c.984C>A (p.Ile328=)
n.755C>A
n.210C>A
n.153C>A
c.2160C>A (p.Ile720=)
c.1869C>A (p.Ile623=)
c.804C>A (p.Ile268=)
c.1935C>A (p.Ile645=)
c.717C>A (p.Ile239=)
c.1989C>A (p.Ile663=)
c.891C>A (p.Ile297=)
n.777-4307C>A
n.6176C>A
c.2247C>A (p.Ile749=)
c.2154C>A (p.Ile718=)
c.2073C>A (p.Ile691=)
c.2049C>A (p.Ile683=)
c.1956C>A (p.Ile652=)
c.1182C>A (p.Ile394=)
c.1095C>A (p.Ile365=)
c.1008C>A (p.Ile336=)
c.771+33C>A (n.771+33C>A)
n.815C>A
17g.46014311C>GCA399983568MAPTc.897C>G (p.Ile299Met)
c.810C>G (p.Ile270Met)
c.984C>G (p.Ile328Met)
n.755C>G
n.210C>G
n.153C>G
c.2160C>G (p.Ile720Met)
c.1869C>G (p.Ile623Met)
c.804C>G (p.Ile268Met)
c.1935C>G (p.Ile645Met)
c.717C>G (p.Ile239Met)
c.1989C>G (p.Ile663Met)
c.891C>G (p.Ile297Met)
n.777-4307C>G
n.6176C>G
c.2247C>G (p.Ile749Met)
c.2154C>G (p.Ile718Met)
c.2073C>G (p.Ile691Met)
c.2049C>G (p.Ile683Met)
c.1956C>G (p.Ile652Met)
c.1182C>G (p.Ile394Met)
c.1095C>G (p.Ile365Met)
c.1008C>G (p.Ile336Met)
c.771+33C>G (n.771+33C>G)
n.815C>G
17g.46014311C>TCA500371201MAPTc.897C>T (p.Ile299=)
c.810C>T (p.Ile270=)
c.984C>T (p.Ile328=)
n.755C>T
n.210C>T
n.153C>T
c.2160C>T (p.Ile720=)
c.1869C>T (p.Ile623=)
c.804C>T (p.Ile268=)
c.1935C>T (p.Ile645=)
c.717C>T (p.Ile239=)
c.1989C>T (p.Ile663=)
c.891C>T (p.Ile297=)
n.777-4307C>T
n.6176C>T
c.2247C>T (p.Ile749=)
c.2154C>T (p.Ile718=)
c.2073C>T (p.Ile691=)
c.2049C>T (p.Ile683=)
c.1956C>T (p.Ile652=)
c.1182C>T (p.Ile394=)
c.1095C>T (p.Ile365=)
c.1008C>T (p.Ile336=)
c.771+33C>T (n.771+33C>T)
n.815C>T
 gnomAD v4
17g.46014312C>ACA399983570MAPTc.898C>A (p.His300Asn)
c.811C>A (p.His271Asn)
c.985C>A (p.His329Asn)
n.756C>A
n.211C>A
n.154C>A
c.2161C>A (p.His721Asn)
c.1870C>A (p.His624Asn)
c.805C>A (p.His269Asn)
c.1936C>A (p.His646Asn)
c.718C>A (p.His240Asn)
c.1990C>A (p.His664Asn)
c.892C>A (p.His298Asn)
n.777-4306C>A
n.6177C>A
c.2248C>A (p.His750Asn)
c.2155C>A (p.His719Asn)
c.2074C>A (p.His692Asn)
c.2050C>A (p.His684Asn)
c.1957C>A (p.His653Asn)
c.1183C>A (p.His395Asn)
c.1096C>A (p.His366Asn)
c.1009C>A (p.His337Asn)
c.771+34C>A (n.771+34C>A)
n.816C>A
17g.46014312C>GCA399983571MAPTc.898C>G (p.His300Asp)
c.811C>G (p.His271Asp)
c.985C>G (p.His329Asp)
n.756C>G
n.211C>G
n.154C>G
c.2161C>G (p.His721Asp)
c.1870C>G (p.His624Asp)
c.805C>G (p.His269Asp)
c.1936C>G (p.His646Asp)
c.718C>G (p.His240Asp)
c.1990C>G (p.His664Asp)
c.892C>G (p.His298Asp)
n.777-4306C>G
n.6177C>G
c.2248C>G (p.His750Asp)
c.2155C>G (p.His719Asp)
c.2074C>G (p.His692Asp)
c.2050C>G (p.His684Asp)
c.1957C>G (p.His653Asp)
c.1183C>G (p.His395Asp)
c.1096C>G (p.His366Asp)
c.1009C>G (p.His337Asp)
c.771+34C>G (n.771+34C>G)
n.816C>G
17g.46014312C>TCA399983569MAPTc.898C>T (p.His300Tyr)
c.811C>T (p.His271Tyr)
c.985C>T (p.His329Tyr)
n.756C>T
n.211C>T
n.154C>T
c.2161C>T (p.His721Tyr)
c.1870C>T (p.His624Tyr)
c.805C>T (p.His269Tyr)
c.1936C>T (p.His646Tyr)
c.718C>T (p.His240Tyr)
c.1990C>T (p.His664Tyr)
c.892C>T (p.His298Tyr)
n.777-4306C>T
n.6177C>T
c.2248C>T (p.His750Tyr)
c.2155C>T (p.His719Tyr)
c.2074C>T (p.His692Tyr)
c.2050C>T (p.His684Tyr)
c.1957C>T (p.His653Tyr)
c.1183C>T (p.His395Tyr)
c.1096C>T (p.His366Tyr)
c.1009C>T (p.His337Tyr)
c.771+34C>T (n.771+34C>T)
n.816C>T
17g.46014313A>CCA399983572MAPTc.899A>C (p.His300Pro)
c.812A>C (p.His271Pro)
c.986A>C (p.His329Pro)
n.757A>C
n.212A>C
n.155A>C
c.2162A>C (p.His721Pro)
c.1871A>C (p.His624Pro)
c.806A>C (p.His269Pro)
c.1937A>C (p.His646Pro)
c.719A>C (p.His240Pro)
c.1991A>C (p.His664Pro)
c.893A>C (p.His298Pro)
n.777-4305A>C
n.6178A>C
c.2249A>C (p.His750Pro)
c.2156A>C (p.His719Pro)
c.2075A>C (p.His692Pro)
c.2051A>C (p.His684Pro)
c.1958A>C (p.His653Pro)
c.1184A>C (p.His395Pro)
c.1097A>C (p.His366Pro)
c.1010A>C (p.His337Pro)
c.771+35A>C (n.771+35A>C)
n.817A>C
17g.46014313A>GCA399983573MAPTc.899A>G (p.His300Arg)
c.812A>G (p.His271Arg)
c.986A>G (p.His329Arg)
n.757A>G
n.212A>G
n.155A>G
c.2162A>G (p.His721Arg)
c.1871A>G (p.His624Arg)
c.806A>G (p.His269Arg)
c.1937A>G (p.His646Arg)
c.719A>G (p.His240Arg)
c.1991A>G (p.His664Arg)
c.893A>G (p.His298Arg)
n.777-4305A>G
n.6178A>G
c.2249A>G (p.His750Arg)
c.2156A>G (p.His719Arg)
c.2075A>G (p.His692Arg)
c.2051A>G (p.His684Arg)
c.1958A>G (p.His653Arg)
c.1184A>G (p.His395Arg)
c.1097A>G (p.His366Arg)
c.1010A>G (p.His337Arg)
c.771+35A>G (n.771+35A>G)
n.817A>G
 gnomAD v4
17g.46014313A>TCA399983574MAPTc.899A>T (p.His300Leu)
c.812A>T (p.His271Leu)
c.986A>T (p.His329Leu)
n.757A>T
n.212A>T
n.155A>T
c.2162A>T (p.His721Leu)
c.1871A>T (p.His624Leu)
c.806A>T (p.His269Leu)
c.1937A>T (p.His646Leu)
c.719A>T (p.His240Leu)
c.1991A>T (p.His664Leu)
c.893A>T (p.His298Leu)
n.777-4305A>T
n.6178A>T
c.2249A>T (p.His750Leu)
c.2156A>T (p.His719Leu)
c.2075A>T (p.His692Leu)
c.2051A>T (p.His684Leu)
c.1958A>T (p.His653Leu)
c.1184A>T (p.His395Leu)
c.1097A>T (p.His366Leu)
c.1010A>T (p.His337Leu)
c.771+35A>T (n.771+35A>T)
n.817A>T
17g.46014314T>ACA399983575MAPTc.900T>A (p.His300Gln)
c.813T>A (p.His271Gln)
c.987T>A (p.His329Gln)
n.758T>A
n.213T>A
n.156T>A
c.2163T>A (p.His721Gln)
c.1872T>A (p.His624Gln)
c.807T>A (p.His269Gln)
c.1938T>A (p.His646Gln)
c.720T>A (p.His240Gln)
c.1992T>A (p.His664Gln)
c.894T>A (p.His298Gln)
n.777-4304T>A
n.6179T>A
c.2250T>A (p.His750Gln)
c.2157T>A (p.His719Gln)
c.2076T>A (p.His692Gln)
c.2052T>A (p.His684Gln)
c.1959T>A (p.His653Gln)
c.1185T>A (p.His395Gln)
c.1098T>A (p.His366Gln)
c.1011T>A (p.His337Gln)
c.771+36T>A (n.771+36T>A)
n.818T>A
17g.46014314T>CCA500371207MAPTc.900T>C (p.His300=)
c.813T>C (p.His271=)
c.987T>C (p.His329=)
n.758T>C
n.213T>C
n.156T>C
c.2163T>C (p.His721=)
c.1872T>C (p.His624=)
c.807T>C (p.His269=)
c.1938T>C (p.His646=)
c.720T>C (p.His240=)
c.1992T>C (p.His664=)
c.894T>C (p.His298=)
n.777-4304T>C
n.6179T>C
c.2250T>C (p.His750=)
c.2157T>C (p.His719=)
c.2076T>C (p.His692=)
c.2052T>C (p.His684=)
c.1959T>C (p.His653=)
c.1185T>C (p.His395=)
c.1098T>C (p.His366=)
c.1011T>C (p.His337=)
c.771+36T>C (n.771+36T>C)
n.818T>C
17g.46014314T>GCA399983576MAPTc.900T>G (p.His300Gln)
c.813T>G (p.His271Gln)
c.987T>G (p.His329Gln)
n.758T>G
n.213T>G
n.156T>G
c.2163T>G (p.His721Gln)
c.1872T>G (p.His624Gln)
c.807T>G (p.His269Gln)
c.1938T>G (p.His646Gln)
c.720T>G (p.His240Gln)
c.1992T>G (p.His664Gln)
c.894T>G (p.His298Gln)
n.777-4304T>G
n.6179T>G
c.2250T>G (p.His750Gln)
c.2157T>G (p.His719Gln)
c.2076T>G (p.His692Gln)
c.2052T>G (p.His684Gln)
c.1959T>G (p.His653Gln)
c.1185T>G (p.His395Gln)
c.1098T>G (p.His366Gln)
c.1011T>G (p.His337Gln)
c.771+36T>G (n.771+36T>G)
n.818T>G
17g.46014315C>ACA399983579MAPTc.901C>A (p.His301Asn)
c.814C>A (p.His272Asn)
c.988C>A (p.His330Asn)
n.759C>A
n.214C>A
n.157C>A
c.2164C>A (p.His722Asn)
c.1873C>A (p.His625Asn)
c.808C>A (p.His270Asn)
c.1939C>A (p.His647Asn)
c.721C>A (p.His241Asn)
c.1993C>A (p.His665Asn)
c.895C>A (p.His299Asn)
n.777-4303C>A
n.6180C>A
c.2251C>A (p.His751Asn)
c.2158C>A (p.His720Asn)
c.2077C>A (p.His693Asn)
c.2053C>A (p.His685Asn)
c.1960C>A (p.His654Asn)
c.1186C>A (p.His396Asn)
c.1099C>A (p.His367Asn)
c.1012C>A (p.His338Asn)
c.771+37C>A (n.771+37C>A)
n.819C>A
17g.46014315C>GCA399983578MAPTc.901C>G (p.His301Asp)
c.814C>G (p.His272Asp)
c.988C>G (p.His330Asp)
n.759C>G
n.214C>G
n.157C>G
c.2164C>G (p.His722Asp)
c.1873C>G (p.His625Asp)
c.808C>G (p.His270Asp)
c.1939C>G (p.His647Asp)
c.721C>G (p.His241Asp)
c.1993C>G (p.His665Asp)
c.895C>G (p.His299Asp)
n.777-4303C>G
n.6180C>G
c.2251C>G (p.His751Asp)
c.2158C>G (p.His720Asp)
c.2077C>G (p.His693Asp)
c.2053C>G (p.His685Asp)
c.1960C>G (p.His654Asp)
c.1186C>G (p.His396Asp)
c.1099C>G (p.His367Asp)
c.1012C>G (p.His338Asp)
c.771+37C>G (n.771+37C>G)
n.819C>G
17g.46014315C>TCA399983577MAPTc.901C>T (p.His301Tyr)
c.814C>T (p.His272Tyr)
c.988C>T (p.His330Tyr)
n.759C>T
n.214C>T
n.157C>T
c.2164C>T (p.His722Tyr)
c.1873C>T (p.His625Tyr)
c.808C>T (p.His270Tyr)
c.1939C>T (p.His647Tyr)
c.721C>T (p.His241Tyr)
c.1993C>T (p.His665Tyr)
c.895C>T (p.His299Tyr)
n.777-4303C>T
n.6180C>T
c.2251C>T (p.His751Tyr)
c.2158C>T (p.His720Tyr)
c.2077C>T (p.His693Tyr)
c.2053C>T (p.His685Tyr)
c.1960C>T (p.His654Tyr)
c.1186C>T (p.His396Tyr)
c.1099C>T (p.His367Tyr)
c.1012C>T (p.His338Tyr)
c.771+37C>T (n.771+37C>T)
n.819C>T
 COSMIC COSMIC
17g.46014316A>CCA399983580MAPTc.902A>C (p.His301Pro)
c.815A>C (p.His272Pro)
c.989A>C (p.His330Pro)
n.760A>C
n.215A>C
n.158A>C
c.2165A>C (p.His722Pro)
c.1874A>C (p.His625Pro)
c.809A>C (p.His270Pro)
c.1940A>C (p.His647Pro)
c.722A>C (p.His241Pro)
c.1994A>C (p.His665Pro)
c.896A>C (p.His299Pro)
n.777-4302A>C
n.6181A>C
c.2252A>C (p.His751Pro)
c.2159A>C (p.His720Pro)
c.2078A>C (p.His693Pro)
c.2054A>C (p.His685Pro)
c.1961A>C (p.His654Pro)
c.1187A>C (p.His396Pro)
c.1100A>C (p.His367Pro)
c.1013A>C (p.His338Pro)
c.771+38A>C (n.771+38A>C)
n.820A>C
17g.46014316A>GCA399983581MAPTc.902A>G (p.His301Arg)
c.815A>G (p.His272Arg)
c.989A>G (p.His330Arg)
n.760A>G
n.215A>G
n.158A>G
c.2165A>G (p.His722Arg)
c.1874A>G (p.His625Arg)
c.809A>G (p.His270Arg)
c.1940A>G (p.His647Arg)
c.722A>G (p.His241Arg)
c.1994A>G (p.His665Arg)
c.896A>G (p.His299Arg)
n.777-4302A>G
n.6181A>G
c.2252A>G (p.His751Arg)
c.2159A>G (p.His720Arg)
c.2078A>G (p.His693Arg)
c.2054A>G (p.His685Arg)
c.1961A>G (p.His654Arg)
c.1187A>G (p.His396Arg)
c.1100A>G (p.His367Arg)
c.1013A>G (p.His338Arg)
c.771+38A>G (n.771+38A>G)
n.820A>G
 gnomAD v4
17g.46014316A>TCA399983582MAPTc.902A>T (p.His301Leu)
c.815A>T (p.His272Leu)
c.989A>T (p.His330Leu)
n.760A>T
n.215A>T
n.158A>T
c.2165A>T (p.His722Leu)
c.1874A>T (p.His625Leu)
c.809A>T (p.His270Leu)
c.1940A>T (p.His647Leu)
c.722A>T (p.His241Leu)
c.1994A>T (p.His665Leu)
c.896A>T (p.His299Leu)
n.777-4302A>T
n.6181A>T
c.2252A>T (p.His751Leu)
c.2159A>T (p.His720Leu)
c.2078A>T (p.His693Leu)
c.2054A>T (p.His685Leu)
c.1961A>T (p.His654Leu)
c.1187A>T (p.His396Leu)
c.1100A>T (p.His367Leu)
c.1013A>T (p.His338Leu)
c.771+38A>T (n.771+38A>T)
n.820A>T
17g.46014317T>ACA399983583MAPTc.903T>A (p.His301Gln)
c.816T>A (p.His272Gln)
c.990T>A (p.His330Gln)
n.761T>A
n.216T>A
n.159T>A
c.2166T>A (p.His722Gln)
c.1875T>A (p.His625Gln)
c.810T>A (p.His270Gln)
c.1941T>A (p.His647Gln)
c.723T>A (p.His241Gln)
c.1995T>A (p.His665Gln)
c.897T>A (p.His299Gln)
n.777-4301T>A
n.6182T>A
c.2253T>A (p.His751Gln)
c.2160T>A (p.His720Gln)
c.2079T>A (p.His693Gln)
c.2055T>A (p.His685Gln)
c.1962T>A (p.His654Gln)
c.1188T>A (p.His396Gln)
c.1101T>A (p.His367Gln)
c.1014T>A (p.His338Gln)
c.771+39T>A (n.771+39T>A)
n.821T>A
17g.46014317T>CCA8618201MAPTc.903T>C (p.His301=)
c.816T>C (p.His272=)
c.990T>C (p.His330=)
n.761T>C
n.216T>C
n.159T>C
c.2166T>C (p.His722=)
c.1875T>C (p.His625=)
c.810T>C (p.His270=)
c.1941T>C (p.His647=)
c.723T>C (p.His241=)
c.1995T>C (p.His665=)
c.897T>C (p.His299=)
n.777-4301T>C
n.6182T>C
c.2253T>C (p.His751=)
c.2160T>C (p.His720=)
c.2079T>C (p.His693=)
c.2055T>C (p.His685=)
c.1962T>C (p.His654=)
c.1188T>C (p.His396=)
c.1101T>C (p.His367=)
c.1014T>C (p.His338=)
c.771+39T>C (n.771+39T>C)
n.821T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46014317T>GCA399983584MAPTc.903T>G (p.His301Gln)
c.816T>G (p.His272Gln)
c.990T>G (p.His330Gln)
n.761T>G
n.216T>G
n.159T>G
c.2166T>G (p.His722Gln)
c.1875T>G (p.His625Gln)
c.810T>G (p.His270Gln)
c.1941T>G (p.His647Gln)
c.723T>G (p.His241Gln)
c.1995T>G (p.His665Gln)
c.897T>G (p.His299Gln)
n.777-4301T>G
n.6182T>G
c.2253T>G (p.His751Gln)
c.2160T>G (p.His720Gln)
c.2079T>G (p.His693Gln)
c.2055T>G (p.His685Gln)
c.1962T>G (p.His654Gln)
c.1188T>G (p.His396Gln)
c.1101T>G (p.His367Gln)
c.1014T>G (p.His338Gln)
c.771+39T>G (n.771+39T>G)
n.821T>G
17g.46014317T=CA2262102727MAPTc.903T= (p.His301=)
c.816T= (p.His272=)
c.990T= (p.His330=)
n.761T=
n.216T=
n.159T=
c.2166T= (p.His722=)
c.1875T= (p.His625=)
c.810T= (p.His270=)
c.1941T= (p.His647=)
c.723T= (p.His241=)
c.1995T= (p.His665=)
c.897T= (p.His299=)
n.777-4301T=
n.6182T=
c.2253T= (p.His751=)
c.2160T= (p.His720=)
c.2079T= (p.His693=)
c.2055T= (p.His685=)
c.1962T= (p.His654=)
c.1188T= (p.His396=)
c.1101T= (p.His367=)
c.1014T= (p.His338=)
c.771+39T= (n.771+39T=)
n.821T=
17g.46014318A>CCA399983587MAPTc.904A>C (p.Lys302Gln)
c.817A>C (p.Lys273Gln)
c.991A>C (p.Lys331Gln)
n.762A>C
n.217A>C
n.160A>C
c.2167A>C (p.Lys723Gln)
c.1876A>C (p.Lys626Gln)
c.811A>C (p.Lys271Gln)
c.1942A>C (p.Lys648Gln)
c.724A>C (p.Lys242Gln)
c.1996A>C (p.Lys666Gln)
c.898A>C (p.Lys300Gln)
n.777-4300A>C
n.6183A>C
c.2254A>C (p.Lys752Gln)
c.2161A>C (p.Lys721Gln)
c.2080A>C (p.Lys694Gln)
c.2056A>C (p.Lys686Gln)
c.1963A>C (p.Lys655Gln)
c.1189A>C (p.Lys397Gln)
c.1102A>C (p.Lys368Gln)
c.1015A>C (p.Lys339Gln)
c.771+40A>C (n.771+40A>C)
n.822A>C
17g.46014318A>GCA399983586MAPTc.904A>G (p.Lys302Glu)
c.817A>G (p.Lys273Glu)
c.991A>G (p.Lys331Glu)
n.762A>G
n.217A>G
n.160A>G
c.2167A>G (p.Lys723Glu)
c.1876A>G (p.Lys626Glu)
c.811A>G (p.Lys271Glu)
c.1942A>G (p.Lys648Glu)
c.724A>G (p.Lys242Glu)
c.1996A>G (p.Lys666Glu)
c.898A>G (p.Lys300Glu)
n.777-4300A>G
n.6183A>G
c.2254A>G (p.Lys752Glu)
c.2161A>G (p.Lys721Glu)
c.2080A>G (p.Lys694Glu)
c.2056A>G (p.Lys686Glu)
c.1963A>G (p.Lys655Glu)
c.1189A>G (p.Lys397Glu)
c.1102A>G (p.Lys368Glu)
c.1015A>G (p.Lys339Glu)
c.771+40A>G (n.771+40A>G)
n.822A>G
17g.46014318A>TCA399983585MAPTc.904A>T (p.Lys302Ter)
c.817A>T (p.Lys273Ter)
c.991A>T (p.Lys331Ter)
n.762A>T
n.217A>T
n.160A>T
c.2167A>T (p.Lys723Ter)
c.1876A>T (p.Lys626Ter)
c.811A>T (p.Lys271Ter)
c.1942A>T (p.Lys648Ter)
c.724A>T (p.Lys242Ter)
c.1996A>T (p.Lys666Ter)
c.898A>T (p.Lys300Ter)
n.777-4300A>T
n.6183A>T
c.2254A>T (p.Lys752Ter)
c.2161A>T (p.Lys721Ter)
c.2080A>T (p.Lys694Ter)
c.2056A>T (p.Lys686Ter)
c.1963A>T (p.Lys655Ter)
c.1189A>T (p.Lys397Ter)
c.1102A>T (p.Lys368Ter)
c.1015A>T (p.Lys339Ter)
c.771+40A>T (n.771+40A>T)
n.822A>T
17g.46014319A>CCA399983588MAPTc.905A>C (p.Lys302Thr)
c.818A>C (p.Lys273Thr)
c.992A>C (p.Lys331Thr)
n.763A>C
n.218A>C
n.161A>C
c.2168A>C (p.Lys723Thr)
c.1877A>C (p.Lys626Thr)
c.812A>C (p.Lys271Thr)
c.1943A>C (p.Lys648Thr)
c.725A>C (p.Lys242Thr)
c.1997A>C (p.Lys666Thr)
c.899A>C (p.Lys300Thr)
n.777-4299A>C
n.6184A>C
c.2255A>C (p.Lys752Thr)
c.2162A>C (p.Lys721Thr)
c.2081A>C (p.Lys694Thr)
c.2057A>C (p.Lys686Thr)
c.1964A>C (p.Lys655Thr)
c.1190A>C (p.Lys397Thr)
c.1103A>C (p.Lys368Thr)
c.1016A>C (p.Lys339Thr)
c.771+41A>C (n.771+41A>C)
n.823A>C
17g.46014319A>GCA399983590MAPTc.905A>G (p.Lys302Arg)
c.818A>G (p.Lys273Arg)
c.992A>G (p.Lys331Arg)
n.763A>G
n.218A>G
n.161A>G
c.2168A>G (p.Lys723Arg)
c.1877A>G (p.Lys626Arg)
c.812A>G (p.Lys271Arg)
c.1943A>G (p.Lys648Arg)
c.725A>G (p.Lys242Arg)
c.1997A>G (p.Lys666Arg)
c.899A>G (p.Lys300Arg)
n.777-4299A>G
n.6184A>G
c.2255A>G (p.Lys752Arg)
c.2162A>G (p.Lys721Arg)
c.2081A>G (p.Lys694Arg)
c.2057A>G (p.Lys686Arg)
c.1964A>G (p.Lys655Arg)
c.1190A>G (p.Lys397Arg)
c.1103A>G (p.Lys368Arg)
c.1016A>G (p.Lys339Arg)
c.771+41A>G (n.771+41A>G)
n.823A>G
17g.46014319A>TCA399983589MAPTc.905A>T (p.Lys302Ile)
c.818A>T (p.Lys273Ile)
c.992A>T (p.Lys331Ile)
n.763A>T
n.218A>T
n.161A>T
c.2168A>T (p.Lys723Ile)
c.1877A>T (p.Lys626Ile)
c.812A>T (p.Lys271Ile)
c.1943A>T (p.Lys648Ile)
c.725A>T (p.Lys242Ile)
c.1997A>T (p.Lys666Ile)
c.899A>T (p.Lys300Ile)
n.777-4299A>T
n.6184A>T
c.2255A>T (p.Lys752Ile)
c.2162A>T (p.Lys721Ile)
c.2081A>T (p.Lys694Ile)
c.2057A>T (p.Lys686Ile)
c.1964A>T (p.Lys655Ile)
c.1190A>T (p.Lys397Ile)
c.1103A>T (p.Lys368Ile)
c.1016A>T (p.Lys339Ile)
c.771+41A>T (n.771+41A>T)
n.823A>T
17g.46014320A>CCA399983591MAPTc.906A>C (p.Lys302Asn)
c.819A>C (p.Lys273Asn)
c.993A>C (p.Lys331Asn)
n.764A>C
n.219A>C
n.162A>C
c.2169A>C (p.Lys723Asn)
c.1878A>C (p.Lys626Asn)
c.813A>C (p.Lys271Asn)
c.1944A>C (p.Lys648Asn)
c.726A>C (p.Lys242Asn)
c.1998A>C (p.Lys666Asn)
c.900A>C (p.Lys300Asn)
n.777-4298A>C
n.6185A>C
c.2256A>C (p.Lys752Asn)
c.2163A>C (p.Lys721Asn)
c.2082A>C (p.Lys694Asn)
c.2058A>C (p.Lys686Asn)
c.1965A>C (p.Lys655Asn)
c.1191A>C (p.Lys397Asn)
c.1104A>C (p.Lys368Asn)
c.1017A>C (p.Lys339Asn)
c.771+42A>C (n.771+42A>C)
n.824A>C
 gnomAD v4
17g.46014320A>GCA500371208MAPTc.906A>G (p.Lys302=)
c.819A>G (p.Lys273=)
c.993A>G (p.Lys331=)
n.764A>G
n.219A>G
n.162A>G
c.2169A>G (p.Lys723=)
c.1878A>G (p.Lys626=)
c.813A>G (p.Lys271=)
c.1944A>G (p.Lys648=)
c.726A>G (p.Lys242=)
c.1998A>G (p.Lys666=)
c.900A>G (p.Lys300=)
n.777-4298A>G
n.6185A>G
c.2256A>G (p.Lys752=)
c.2163A>G (p.Lys721=)
c.2082A>G (p.Lys694=)
c.2058A>G (p.Lys686=)
c.1965A>G (p.Lys655=)
c.1191A>G (p.Lys397=)
c.1104A>G (p.Lys368=)
c.1017A>G (p.Lys339=)
c.771+42A>G (n.771+42A>G)
n.824A>G
17g.46014320A>TCA399983592MAPTc.906A>T (p.Lys302Asn)
c.819A>T (p.Lys273Asn)
c.993A>T (p.Lys331Asn)
n.764A>T
n.219A>T
n.162A>T
c.2169A>T (p.Lys723Asn)
c.1878A>T (p.Lys626Asn)
c.813A>T (p.Lys271Asn)
c.1944A>T (p.Lys648Asn)
c.726A>T (p.Lys242Asn)
c.1998A>T (p.Lys666Asn)
c.900A>T (p.Lys300Asn)
n.777-4298A>T
n.6185A>T
c.2256A>T (p.Lys752Asn)
c.2163A>T (p.Lys721Asn)
c.2082A>T (p.Lys694Asn)
c.2058A>T (p.Lys686Asn)
c.1965A>T (p.Lys655Asn)
c.1191A>T (p.Lys397Asn)
c.1104A>T (p.Lys368Asn)
c.1017A>T (p.Lys339Asn)
c.771+42A>T (n.771+42A>T)
n.824A>T
17g.46014321C>ACA399983593MAPTc.907C>A (p.Pro303Thr)
c.820C>A (p.Pro274Thr)
c.994C>A (p.Pro332Thr)
n.765C>A
n.220C>A
n.163C>A
c.2170C>A (p.Pro724Thr)
c.1879C>A (p.Pro627Thr)
c.814C>A (p.Pro272Thr)
c.1945C>A (p.Pro649Thr)
c.727C>A (p.Pro243Thr)
c.1999C>A (p.Pro667Thr)
c.901C>A (p.Pro301Thr)
n.777-4297C>A
n.6186C>A
c.2257C>A (p.Pro753Thr)
c.2164C>A (p.Pro722Thr)
c.2083C>A (p.Pro695Thr)
c.2059C>A (p.Pro687Thr)
c.1966C>A (p.Pro656Thr)
c.1192C>A (p.Pro398Thr)
c.1105C>A (p.Pro369Thr)
c.1018C>A (p.Pro340Thr)
c.771+43C>A (n.771+43C>A)
n.825C>A
17g.46014321C>GCA399983594MAPTc.907C>G (p.Pro303Ala)
c.820C>G (p.Pro274Ala)
c.994C>G (p.Pro332Ala)
n.765C>G
n.220C>G
n.163C>G
c.2170C>G (p.Pro724Ala)
c.1879C>G (p.Pro627Ala)
c.814C>G (p.Pro272Ala)
c.1945C>G (p.Pro649Ala)
c.727C>G (p.Pro243Ala)
c.1999C>G (p.Pro667Ala)
c.901C>G (p.Pro301Ala)
n.777-4297C>G
n.6186C>G
c.2257C>G (p.Pro753Ala)
c.2164C>G (p.Pro722Ala)
c.2083C>G (p.Pro695Ala)
c.2059C>G (p.Pro687Ala)
c.1966C>G (p.Pro656Ala)
c.1192C>G (p.Pro398Ala)
c.1105C>G (p.Pro369Ala)
c.1018C>G (p.Pro340Ala)
c.771+43C>G (n.771+43C>G)
n.825C>G
17g.46014321C>TCA399983595MAPTc.907C>T (p.Pro303Ser)
c.820C>T (p.Pro274Ser)
c.994C>T (p.Pro332Ser)
n.765C>T
n.220C>T
n.163C>T
c.2170C>T (p.Pro724Ser)
c.1879C>T (p.Pro627Ser)
c.814C>T (p.Pro272Ser)
c.1945C>T (p.Pro649Ser)
c.727C>T (p.Pro243Ser)
c.1999C>T (p.Pro667Ser)
c.901C>T (p.Pro301Ser)
n.777-4297C>T
n.6186C>T
c.2257C>T (p.Pro753Ser)
c.2164C>T (p.Pro722Ser)
c.2083C>T (p.Pro695Ser)
c.2059C>T (p.Pro687Ser)
c.1966C>T (p.Pro656Ser)
c.1192C>T (p.Pro398Ser)
c.1105C>T (p.Pro369Ser)
c.1018C>T (p.Pro340Ser)
c.771+43C>T (n.771+43C>T)
n.825C>T
17g.46014322C>ACA399983596MAPTc.908C>A (p.Pro303Gln)
c.821C>A (p.Pro274Gln)
c.995C>A (p.Pro332Gln)
n.766C>A
n.221C>A
n.164C>A
c.2171C>A (p.Pro724Gln)
c.1880C>A (p.Pro627Gln)
c.815C>A (p.Pro272Gln)
c.1946C>A (p.Pro649Gln)
c.728C>A (p.Pro243Gln)
c.2000C>A (p.Pro667Gln)
c.902C>A (p.Pro301Gln)
n.777-4296C>A
n.6187C>A
c.2258C>A (p.Pro753Gln)
c.2165C>A (p.Pro722Gln)
c.2084C>A (p.Pro695Gln)
c.2060C>A (p.Pro687Gln)
c.1967C>A (p.Pro656Gln)
c.1193C>A (p.Pro398Gln)
c.1106C>A (p.Pro369Gln)
c.1019C>A (p.Pro340Gln)
c.771+44C>A (n.771+44C>A)
n.826C>A
17g.46014322C>GCA399983597MAPTc.908C>G (p.Pro303Arg)
c.821C>G (p.Pro274Arg)
c.995C>G (p.Pro332Arg)
n.766C>G
n.221C>G
n.164C>G
c.2171C>G (p.Pro724Arg)
c.1880C>G (p.Pro627Arg)
c.815C>G (p.Pro272Arg)
c.1946C>G (p.Pro649Arg)
c.728C>G (p.Pro243Arg)
c.2000C>G (p.Pro667Arg)
c.902C>G (p.Pro301Arg)
n.777-4296C>G
n.6187C>G
c.2258C>G (p.Pro753Arg)
c.2165C>G (p.Pro722Arg)
c.2084C>G (p.Pro695Arg)
c.2060C>G (p.Pro687Arg)
c.1967C>G (p.Pro656Arg)
c.1193C>G (p.Pro398Arg)
c.1106C>G (p.Pro369Arg)
c.1019C>G (p.Pro340Arg)
c.771+44C>G (n.771+44C>G)
n.826C>G
17g.46014322C>TCA399983598MAPTc.908C>T (p.Pro303Leu)
c.821C>T (p.Pro274Leu)
c.995C>T (p.Pro332Leu)
n.766C>T
n.221C>T
n.164C>T
c.2171C>T (p.Pro724Leu)
c.1880C>T (p.Pro627Leu)
c.815C>T (p.Pro272Leu)
c.1946C>T (p.Pro649Leu)
c.728C>T (p.Pro243Leu)
c.2000C>T (p.Pro667Leu)
c.902C>T (p.Pro301Leu)
n.777-4296C>T
n.6187C>T
c.2258C>T (p.Pro753Leu)
c.2165C>T (p.Pro722Leu)
c.2084C>T (p.Pro695Leu)
c.2060C>T (p.Pro687Leu)
c.1967C>T (p.Pro656Leu)
c.1193C>T (p.Pro398Leu)
c.1106C>T (p.Pro369Leu)
c.1019C>T (p.Pro340Leu)
c.771+44C>T (n.771+44C>T)
n.826C>T
17g.46014323A>CCA500371211MAPTc.909A>C (p.Pro303=)
c.822A>C (p.Pro274=)
c.996A>C (p.Pro332=)
n.767A>C
n.222A>C
n.165A>C
c.2172A>C (p.Pro724=)
c.1881A>C (p.Pro627=)
c.816A>C (p.Pro272=)
c.1947A>C (p.Pro649=)
c.729A>C (p.Pro243=)
c.2001A>C (p.Pro667=)
c.903A>C (p.Pro301=)
n.777-4295A>C
n.6188A>C
c.2259A>C (p.Pro753=)
c.2166A>C (p.Pro722=)
c.2085A>C (p.Pro695=)
c.2061A>C (p.Pro687=)
c.1968A>C (p.Pro656=)
c.1194A>C (p.Pro398=)
c.1107A>C (p.Pro369=)
c.1020A>C (p.Pro340=)
c.771+45A>C (n.771+45A>C)
n.827A>C
 gnomAD v4
17g.46014323A>GCA500371210MAPTc.909A>G (p.Pro303=)
c.822A>G (p.Pro274=)
c.996A>G (p.Pro332=)
n.767A>G
n.222A>G
n.165A>G
c.2172A>G (p.Pro724=)
c.1881A>G (p.Pro627=)
c.816A>G (p.Pro272=)
c.1947A>G (p.Pro649=)
c.729A>G (p.Pro243=)
c.2001A>G (p.Pro667=)
c.903A>G (p.Pro301=)
n.777-4295A>G
n.6188A>G
c.2259A>G (p.Pro753=)
c.2166A>G (p.Pro722=)
c.2085A>G (p.Pro695=)
c.2061A>G (p.Pro687=)
c.1968A>G (p.Pro656=)
c.1194A>G (p.Pro398=)
c.1107A>G (p.Pro369=)
c.1020A>G (p.Pro340=)
c.771+45A>G (n.771+45A>G)
n.827A>G
17g.46014323A>TCA500371209MAPTc.909A>T (p.Pro303=)
c.822A>T (p.Pro274=)
c.996A>T (p.Pro332=)
n.767A>T
n.222A>T
n.165A>T
c.2172A>T (p.Pro724=)
c.1881A>T (p.Pro627=)
c.816A>T (p.Pro272=)
c.1947A>T (p.Pro649=)
c.729A>T (p.Pro243=)
c.2001A>T (p.Pro667=)
c.903A>T (p.Pro301=)
n.777-4295A>T
n.6188A>T
c.2259A>T (p.Pro753=)
c.2166A>T (p.Pro722=)
c.2085A>T (p.Pro695=)
c.2061A>T (p.Pro687=)
c.1968A>T (p.Pro656=)
c.1194A>T (p.Pro398=)
c.1107A>T (p.Pro369=)
c.1020A>T (p.Pro340=)
c.771+45A>T (n.771+45A>T)
n.827A>T
17g.46014324G>ACA399983599MAPTc.910G>A (p.Gly304Arg)
c.823G>A (p.Gly275Arg)
c.997G>A (p.Gly333Arg)
n.768G>A
n.223G>A
n.166G>A
c.2173G>A (p.Gly725Arg)
c.1882G>A (p.Gly628Arg)
c.817G>A (p.Gly273Arg)
c.823G>A (p.Asp275Asn)
c.1948G>A (p.Gly650Arg)
c.730G>A (p.Gly244Arg)
c.2002G>A (p.Gly668Arg)
c.904G>A (p.Gly302Arg)
n.777-4294G>A
n.6189G>A
c.2260G>A (p.Gly754Arg)
c.2167G>A (p.Gly723Arg)
c.2086G>A (p.Gly696Arg)
c.2062G>A (p.Gly688Arg)
c.1969G>A (p.Gly657Arg)
c.1195G>A (p.Gly399Arg)
c.1108G>A (p.Gly370Arg)
c.1021G>A (p.Gly341Arg)
c.771+46G>A (n.771+46G>A)
n.828G>A
17g.46014324G>CCA399983600MAPTc.910G>C (p.Gly304Arg)
c.823G>C (p.Gly275Arg)
c.997G>C (p.Gly333Arg)
n.768G>C
n.223G>C
n.166G>C
c.2173G>C (p.Gly725Arg)
c.1882G>C (p.Gly628Arg)
c.817G>C (p.Gly273Arg)
c.823G>C (p.Asp275His)
c.1948G>C (p.Gly650Arg)
c.730G>C (p.Gly244Arg)
c.2002G>C (p.Gly668Arg)
c.904G>C (p.Gly302Arg)
n.777-4294G>C
n.6189G>C
c.2260G>C (p.Gly754Arg)
c.2167G>C (p.Gly723Arg)
c.2086G>C (p.Gly696Arg)
c.2062G>C (p.Gly688Arg)
c.1969G>C (p.Gly657Arg)
c.1195G>C (p.Gly399Arg)
c.1108G>C (p.Gly370Arg)
c.1021G>C (p.Gly341Arg)
c.771+46G>C (n.771+46G>C)
n.828G>C
17g.46014324G=CA2262102728MAPTc.910G= (p.Gly304=)
c.823G= (p.Gly275=)
c.997G= (p.Gly333=)
n.768G=
n.223G=
n.166G=
c.2173G= (p.Gly725=)
c.1882G= (p.Gly628=)
c.817G= (p.Gly273=)
c.823G= (p.Asp275=)
c.1948G= (p.Gly650=)
c.730G= (p.Gly244=)
c.2002G= (p.Gly668=)
c.904G= (p.Gly302=)
n.777-4294G=
n.6189G=
c.2260G= (p.Gly754=)
c.2167G= (p.Gly723=)
c.2086G= (p.Gly696=)
c.2062G= (p.Gly688=)
c.1969G= (p.Gly657=)
c.1195G= (p.Gly399=)
c.1108G= (p.Gly370=)
c.1021G= (p.Gly341=)
c.771+46G= (n.771+46G=)
n.828G=
17g.46014324G>TCA399983601MAPTc.910G>T (p.Gly304Ter)
c.823G>T (p.Gly275Ter)
c.997G>T (p.Gly333Ter)
n.768G>T
n.223G>T
n.166G>T
c.2173G>T (p.Gly725Ter)
c.1882G>T (p.Gly628Ter)
c.817G>T (p.Gly273Ter)
c.823G>T (p.Asp275Tyr)
c.1948G>T (p.Gly650Ter)
c.730G>T (p.Gly244Ter)
c.2002G>T (p.Gly668Ter)
c.904G>T (p.Gly302Ter)
n.777-4294G>T
n.6189G>T
c.2260G>T (p.Gly754Ter)
c.2167G>T (p.Gly723Ter)
c.2086G>T (p.Gly696Ter)
c.2062G>T (p.Gly688Ter)
c.1969G>T (p.Gly657Ter)
c.1195G>T (p.Gly399Ter)
c.1108G>T (p.Gly370Ter)
c.1021G>T (p.Gly341Ter)
c.771+46G>T (n.771+46G>T)
n.828G>T
 ClinVar dbSNP
17g.46014325G>ACA399983604MAPTc.910+1G>A (n.910+1G>A)
c.823+1G>A (n.823+1G>A)
c.997+1G>A (n.997+1G>A)
n.768+1G>A
n.223+1G>A
n.167G>A
c.2173+1G>A (n.2173+1G>A)
c.1882+1G>A (n.1882+1G>A)
c.817+1G>A (n.817+1G>A)
c.1948+1G>A (n.1948+1G>A)
c.730+1G>A (n.730+1G>A)
c.2002+1G>A (n.2002+1G>A)
c.904+1G>A (n.904+1G>A)
n.777-4293G>A
n.6189+1G>A
c.2260+1G>A (n.2260+1G>A)
c.2167+1G>A (n.2167+1G>A)
c.2086+1G>A (n.2086+1G>A)
c.2062+1G>A (n.2062+1G>A)
c.1969+1G>A (n.1969+1G>A)
c.1195+1G>A (n.1195+1G>A)
c.1108+1G>A (n.1108+1G>A)
c.1021+1G>A (n.1021+1G>A)
c.771+47G>A (n.771+47G>A)
n.828+1G>A
 gnomAD v4
17g.46014325G>CCA399983603MAPTc.910+1G>C (n.910+1G>C)
c.823+1G>C (n.823+1G>C)
c.997+1G>C (n.997+1G>C)
n.768+1G>C
n.223+1G>C
n.167G>C
c.2173+1G>C (n.2173+1G>C)
c.1882+1G>C (n.1882+1G>C)
c.817+1G>C (n.817+1G>C)
c.1948+1G>C (n.1948+1G>C)
c.730+1G>C (n.730+1G>C)
c.2002+1G>C (n.2002+1G>C)
c.904+1G>C (n.904+1G>C)
n.777-4293G>C
n.6189+1G>C
c.2260+1G>C (n.2260+1G>C)
c.2167+1G>C (n.2167+1G>C)
c.2086+1G>C (n.2086+1G>C)
c.2062+1G>C (n.2062+1G>C)
c.1969+1G>C (n.1969+1G>C)
c.1195+1G>C (n.1195+1G>C)
c.1108+1G>C (n.1108+1G>C)
c.1021+1G>C (n.1021+1G>C)
c.771+47G>C (n.771+47G>C)
n.828+1G>C
17g.46014325G>TCA399983602MAPTc.910+1G>T (n.910+1G>T)
c.823+1G>T (n.823+1G>T)
c.997+1G>T (n.997+1G>T)
n.768+1G>T
n.223+1G>T
n.167G>T
c.2173+1G>T (n.2173+1G>T)
c.1882+1G>T (n.1882+1G>T)
c.817+1G>T (n.817+1G>T)
c.1948+1G>T (n.1948+1G>T)
c.730+1G>T (n.730+1G>T)
c.2002+1G>T (n.2002+1G>T)
c.904+1G>T (n.904+1G>T)
n.777-4293G>T
n.6189+1G>T
c.2260+1G>T (n.2260+1G>T)
c.2167+1G>T (n.2167+1G>T)
c.2086+1G>T (n.2086+1G>T)
c.2062+1G>T (n.2062+1G>T)
c.1969+1G>T (n.1969+1G>T)
c.1195+1G>T (n.1195+1G>T)
c.1108+1G>T (n.1108+1G>T)
c.1021+1G>T (n.1021+1G>T)
c.771+47G>T (n.771+47G>T)
n.828+1G>T
17g.46014326T>ACA399983605MAPTc.910+2T>A (n.910+2T>A)
c.823+2T>A (n.823+2T>A)
c.997+2T>A (n.997+2T>A)
n.768+2T>A
n.223+2T>A
n.168T>A
c.2173+2T>A (n.2173+2T>A)
c.1882+2T>A (n.1882+2T>A)
c.817+2T>A (n.817+2T>A)
c.1948+2T>A (n.1948+2T>A)
c.730+2T>A (n.730+2T>A)
c.2002+2T>A (n.2002+2T>A)
c.904+2T>A (n.904+2T>A)
n.777-4292T>A
n.6189+2T>A
c.2260+2T>A (n.2260+2T>A)
c.2167+2T>A (n.2167+2T>A)
c.2086+2T>A (n.2086+2T>A)
c.2062+2T>A (n.2062+2T>A)
c.1969+2T>A (n.1969+2T>A)
c.1195+2T>A (n.1195+2T>A)
c.1108+2T>A (n.1108+2T>A)
c.1021+2T>A (n.1021+2T>A)
c.771+48T>A (n.771+48T>A)
n.828+2T>A
17g.46014326T>CCA399983606MAPTc.910+2T>C (n.910+2T>C)
c.823+2T>C (n.823+2T>C)
c.997+2T>C (n.997+2T>C)
n.768+2T>C
n.223+2T>C
n.168T>C
c.2173+2T>C (n.2173+2T>C)
c.1882+2T>C (n.1882+2T>C)
c.817+2T>C (n.817+2T>C)
c.1948+2T>C (n.1948+2T>C)
c.730+2T>C (n.730+2T>C)
c.2002+2T>C (n.2002+2T>C)
c.904+2T>C (n.904+2T>C)
n.777-4292T>C
n.6189+2T>C
c.2260+2T>C (n.2260+2T>C)
c.2167+2T>C (n.2167+2T>C)
c.2086+2T>C (n.2086+2T>C)
c.2062+2T>C (n.2062+2T>C)
c.1969+2T>C (n.1969+2T>C)
c.1195+2T>C (n.1195+2T>C)
c.1108+2T>C (n.1108+2T>C)
c.1021+2T>C (n.1021+2T>C)
c.771+48T>C (n.771+48T>C)
n.828+2T>C
 gnomAD v4
17g.46014326T>GCA399983607MAPTc.910+2T>G (n.910+2T>G)
c.823+2T>G (n.823+2T>G)
c.997+2T>G (n.997+2T>G)
n.768+2T>G
n.223+2T>G
n.168T>G
c.2173+2T>G (n.2173+2T>G)
c.1882+2T>G (n.1882+2T>G)
c.817+2T>G (n.817+2T>G)
c.1948+2T>G (n.1948+2T>G)
c.730+2T>G (n.730+2T>G)
c.2002+2T>G (n.2002+2T>G)
c.904+2T>G (n.904+2T>G)
n.777-4292T>G
n.6189+2T>G
c.2260+2T>G (n.2260+2T>G)
c.2167+2T>G (n.2167+2T>G)
c.2086+2T>G (n.2086+2T>G)
c.2062+2T>G (n.2062+2T>G)
c.1969+2T>G (n.1969+2T>G)
c.1195+2T>G (n.1195+2T>G)
c.1108+2T>G (n.1108+2T>G)
c.1021+2T>G (n.1021+2T>G)
c.771+48T>G (n.771+48T>G)
n.828+2T>G
17g.46014328G>ACA2262102730MAPTc.910+4G>A (n.910+4G>A)
c.823+4G>A (n.823+4G>A)
c.997+4G>A (n.997+4G>A)
n.768+4G>A
n.223+4G>A
n.170G>A
c.2173+4G>A (n.2173+4G>A)
c.1882+4G>A (n.1882+4G>A)
c.817+4G>A (n.817+4G>A)
c.1948+4G>A (n.1948+4G>A)
c.730+4G>A (n.730+4G>A)
c.2002+4G>A (n.2002+4G>A)
c.904+4G>A (n.904+4G>A)
n.777-4290G>A
n.6189+4G>A
c.2260+4G>A (n.2260+4G>A)
c.2167+4G>A (n.2167+4G>A)
c.2086+4G>A (n.2086+4G>A)
c.2062+4G>A (n.2062+4G>A)
c.1969+4G>A (n.1969+4G>A)
c.1195+4G>A (n.1195+4G>A)
c.1108+4G>A (n.1108+4G>A)
c.1021+4G>A (n.1021+4G>A)
c.771+50G>A (n.771+50G>A)
n.828+4G>A
 ClinVar dbSNP gnomAD v4
17g.46014328G>CCA984126106MAPTc.910+4G>C (n.910+4G>C)
c.823+4G>C (n.823+4G>C)
c.997+4G>C (n.997+4G>C)
n.768+4G>C
n.223+4G>C
n.170G>C
c.2173+4G>C (n.2173+4G>C)
c.1882+4G>C (n.1882+4G>C)
c.817+4G>C (n.817+4G>C)
c.1948+4G>C (n.1948+4G>C)
c.730+4G>C (n.730+4G>C)
c.2002+4G>C (n.2002+4G>C)
c.904+4G>C (n.904+4G>C)
n.777-4290G>C
n.6189+4G>C
c.2260+4G>C (n.2260+4G>C)
c.2167+4G>C (n.2167+4G>C)
c.2086+4G>C (n.2086+4G>C)
c.2062+4G>C (n.2062+4G>C)
c.1969+4G>C (n.1969+4G>C)
c.1195+4G>C (n.1195+4G>C)
c.1108+4G>C (n.1108+4G>C)
c.1021+4G>C (n.1021+4G>C)
c.771+50G>C (n.771+50G>C)
n.828+4G>C
 dbSNP gnomAD v3 gnomAD v4
17g.46014328G=CA2262102729MAPTc.910+4G= (n.910+4G=)
c.823+4G= (n.823+4G=)
c.997+4G= (n.997+4G=)
n.768+4G=
n.223+4G=
n.170G=
c.2173+4G= (n.2173+4G=)
c.1882+4G= (n.1882+4G=)
c.817+4G= (n.817+4G=)
c.1948+4G= (n.1948+4G=)
c.730+4G= (n.730+4G=)
c.2002+4G= (n.2002+4G=)
c.904+4G= (n.904+4G=)
n.777-4290G=
n.6189+4G=
c.2260+4G= (n.2260+4G=)
c.2167+4G= (n.2167+4G=)
c.2086+4G= (n.2086+4G=)
c.2062+4G= (n.2062+4G=)
c.1969+4G= (n.1969+4G=)
c.1195+4G= (n.1195+4G=)
c.1108+4G= (n.1108+4G=)
c.1021+4G= (n.1021+4G=)
c.771+50G= (n.771+50G=)
n.828+4G=
17g.46014329C>TCA2638367465MAPTc.910+5C>T (n.910+5C>T)
c.823+5C>T (n.823+5C>T)
c.997+5C>T (n.997+5C>T)
n.768+5C>T
n.223+5C>T
n.171C>T
c.2173+5C>T (n.2173+5C>T)
c.1882+5C>T (n.1882+5C>T)
c.817+5C>T (n.817+5C>T)
c.1948+5C>T (n.1948+5C>T)
c.730+5C>T (n.730+5C>T)
c.2002+5C>T (n.2002+5C>T)
c.904+5C>T (n.904+5C>T)
n.777-4289C>T
n.6189+5C>T
c.2260+5C>T (n.2260+5C>T)
c.2167+5C>T (n.2167+5C>T)
c.2086+5C>T (n.2086+5C>T)
c.2062+5C>T (n.2062+5C>T)
c.1969+5C>T (n.1969+5C>T)
c.1195+5C>T (n.1195+5C>T)
c.1108+5C>T (n.1108+5C>T)
c.1021+5C>T (n.1021+5C>T)
c.771+51C>T (n.771+51C>T)
n.828+5C>T
 gnomAD v4
17g.46014331C=CA2262102731MAPTc.910+7C= (n.910+7C=)
c.823+7C= (n.823+7C=)
c.997+7C= (n.997+7C=)
n.768+7C=
n.223+7C=
n.173C=
c.2173+7C= (n.2173+7C=)
c.1882+7C= (n.1882+7C=)
c.817+7C= (n.817+7C=)
c.1948+7C= (n.1948+7C=)
c.730+7C= (n.730+7C=)
c.2002+7C= (n.2002+7C=)
c.904+7C= (n.904+7C=)
n.777-4287C=
n.6189+7C=
c.2260+7C= (n.2260+7C=)
c.2167+7C= (n.2167+7C=)
c.2086+7C= (n.2086+7C=)
c.2062+7C= (n.2062+7C=)
c.1969+7C= (n.1969+7C=)
c.1195+7C= (n.1195+7C=)
c.1108+7C= (n.1108+7C=)
c.1021+7C= (n.1021+7C=)
c.771+53C= (n.771+53C=)
n.828+7C=
17g.46014331C>GCA2262102732MAPTc.910+7C>G (n.910+7C>G)
c.823+7C>G (n.823+7C>G)
c.997+7C>G (n.997+7C>G)
n.768+7C>G
n.223+7C>G
n.173C>G
c.2173+7C>G (n.2173+7C>G)
c.1882+7C>G (n.1882+7C>G)
c.817+7C>G (n.817+7C>G)
c.1948+7C>G (n.1948+7C>G)
c.730+7C>G (n.730+7C>G)
c.2002+7C>G (n.2002+7C>G)
c.904+7C>G (n.904+7C>G)
n.777-4287C>G
n.6189+7C>G
c.2260+7C>G (n.2260+7C>G)
c.2167+7C>G (n.2167+7C>G)
c.2086+7C>G (n.2086+7C>G)
c.2062+7C>G (n.2062+7C>G)
c.1969+7C>G (n.1969+7C>G)
c.1195+7C>G (n.1195+7C>G)
c.1108+7C>G (n.1108+7C>G)
c.1021+7C>G (n.1021+7C>G)
c.771+53C>G (n.771+53C>G)
n.828+7C>G
 dbSNP
17g.46014332T>CCA8618202MAPTc.910+8T>C (n.910+8T>C)
c.823+8T>C (n.823+8T>C)
c.997+8T>C (n.997+8T>C)
n.768+8T>C
n.223+8T>C
n.174T>C
c.2173+8T>C (n.2173+8T>C)
c.1882+8T>C (n.1882+8T>C)
c.817+8T>C (n.817+8T>C)
c.1948+8T>C (n.1948+8T>C)
c.730+8T>C (n.730+8T>C)
c.2002+8T>C (n.2002+8T>C)
c.904+8T>C (n.904+8T>C)
n.777-4286T>C
n.6189+8T>C
c.2260+8T>C (n.2260+8T>C)
c.2167+8T>C (n.2167+8T>C)
c.2086+8T>C (n.2086+8T>C)
c.2062+8T>C (n.2062+8T>C)
c.1969+8T>C (n.1969+8T>C)
c.1195+8T>C (n.1195+8T>C)
c.1108+8T>C (n.1108+8T>C)
c.1021+8T>C (n.1021+8T>C)
c.771+54T>C (n.771+54T>C)
n.828+8T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46014332T=CA2262102733MAPTc.910+8T= (n.910+8T=)
c.823+8T= (n.823+8T=)
c.997+8T= (n.997+8T=)
n.768+8T=
n.223+8T=
n.174T=
c.2173+8T= (n.2173+8T=)
c.1882+8T= (n.1882+8T=)
c.817+8T= (n.817+8T=)
c.1948+8T= (n.1948+8T=)
c.730+8T= (n.730+8T=)
c.2002+8T= (n.2002+8T=)
c.904+8T= (n.904+8T=)
n.777-4286T=
n.6189+8T=
c.2260+8T= (n.2260+8T=)
c.2167+8T= (n.2167+8T=)
c.2086+8T= (n.2086+8T=)
c.2062+8T= (n.2062+8T=)
c.1969+8T= (n.1969+8T=)
c.1195+8T= (n.1195+8T=)
c.1108+8T= (n.1108+8T=)
c.1021+8T= (n.1021+8T=)
c.771+54T= (n.771+54T=)
n.828+8T=
17g.46014333G>CCA291112287MAPTc.910+9G>C (n.910+9G>C)
c.823+9G>C (n.823+9G>C)
c.997+9G>C (n.997+9G>C)
n.768+9G>C
n.223+9G>C
n.175G>C
c.2173+9G>C (n.2173+9G>C)
c.1882+9G>C (n.1882+9G>C)
c.817+9G>C (n.817+9G>C)
c.1948+9G>C (n.1948+9G>C)
c.730+9G>C (n.730+9G>C)
c.2002+9G>C (n.2002+9G>C)
c.904+9G>C (n.904+9G>C)
n.777-4285G>C
n.6189+9G>C
c.2260+9G>C (n.2260+9G>C)
c.2167+9G>C (n.2167+9G>C)
c.2086+9G>C (n.2086+9G>C)
c.2062+9G>C (n.2062+9G>C)
c.1969+9G>C (n.1969+9G>C)
c.1195+9G>C (n.1195+9G>C)
c.1108+9G>C (n.1108+9G>C)
c.1021+9G>C (n.1021+9G>C)
c.771+55G>C (n.771+55G>C)
n.828+9G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46014333G=CA2262102734MAPTc.910+9G= (n.910+9G=)
c.823+9G= (n.823+9G=)
c.997+9G= (n.997+9G=)
n.768+9G=
n.223+9G=
n.175G=
c.2173+9G= (n.2173+9G=)
c.1882+9G= (n.1882+9G=)
c.817+9G= (n.817+9G=)
c.1948+9G= (n.1948+9G=)
c.730+9G= (n.730+9G=)
c.2002+9G= (n.2002+9G=)
c.904+9G= (n.904+9G=)
n.777-4285G=
n.6189+9G=
c.2260+9G= (n.2260+9G=)
c.2167+9G= (n.2167+9G=)
c.2086+9G= (n.2086+9G=)
c.2062+9G= (n.2062+9G=)
c.1969+9G= (n.1969+9G=)
c.1195+9G= (n.1195+9G=)
c.1108+9G= (n.1108+9G=)
c.1021+9G= (n.1021+9G=)
c.771+55G= (n.771+55G=)
n.828+9G=
17g.46014335G>ACA8618203MAPTc.910+11G>A (n.910+11G>A)
c.823+11G>A (n.823+11G>A)
c.997+11G>A (n.997+11G>A)
n.768+11G>A
n.223+11G>A
n.177G>A
c.2173+11G>A (n.2173+11G>A)
c.1882+11G>A (n.1882+11G>A)
c.817+11G>A (n.817+11G>A)
c.1948+11G>A (n.1948+11G>A)
c.730+11G>A (n.730+11G>A)
c.2002+11G>A (n.2002+11G>A)
c.904+11G>A (n.904+11G>A)
n.777-4283G>A
n.6189+11G>A
c.2260+11G>A (n.2260+11G>A)
c.2167+11G>A (n.2167+11G>A)
c.2086+11G>A (n.2086+11G>A)
c.2062+11G>A (n.2062+11G>A)
c.1969+11G>A (n.1969+11G>A)
c.1195+11G>A (n.1195+11G>A)
c.1108+11G>A (n.1108+11G>A)
c.1021+11G>A (n.1021+11G>A)
c.771+57G>A (n.771+57G>A)
n.828+11G>A
 dbSNP ExAC gnomAD v4
17g.46014335G=CA2262102735MAPTc.910+11G= (n.910+11G=)
c.823+11G= (n.823+11G=)
c.997+11G= (n.997+11G=)
n.768+11G=
n.223+11G=
n.177G=
c.2173+11G= (n.2173+11G=)
c.1882+11G= (n.1882+11G=)
c.817+11G= (n.817+11G=)
c.1948+11G= (n.1948+11G=)
c.730+11G= (n.730+11G=)
c.2002+11G= (n.2002+11G=)
c.904+11G= (n.904+11G=)
n.777-4283G=
n.6189+11G=
c.2260+11G= (n.2260+11G=)
c.2167+11G= (n.2167+11G=)
c.2086+11G= (n.2086+11G=)
c.2062+11G= (n.2062+11G=)
c.1969+11G= (n.1969+11G=)
c.1195+11G= (n.1195+11G=)
c.1108+11G= (n.1108+11G=)
c.1021+11G= (n.1021+11G=)
c.771+57G= (n.771+57G=)
n.828+11G=
17g.46014336G>TCA2638367469MAPTc.910+12G>T (n.910+12G>T)
c.823+12G>T (n.823+12G>T)
c.997+12G>T (n.997+12G>T)
n.768+12G>T
n.223+12G>T
n.178G>T
c.2173+12G>T (n.2173+12G>T)
c.1882+12G>T (n.1882+12G>T)
c.817+12G>T (n.817+12G>T)
c.1948+12G>T (n.1948+12G>T)
c.730+12G>T (n.730+12G>T)
c.2002+12G>T (n.2002+12G>T)
c.904+12G>T (n.904+12G>T)
n.777-4282G>T
n.6189+12G>T
c.2260+12G>T (n.2260+12G>T)
c.2167+12G>T (n.2167+12G>T)
c.2086+12G>T (n.2086+12G>T)
c.2062+12G>T (n.2062+12G>T)
c.1969+12G>T (n.1969+12G>T)
c.1195+12G>T (n.1195+12G>T)
c.1108+12G>T (n.1108+12G>T)
c.1021+12G>T (n.1021+12G>T)
c.771+58G>T (n.771+58G>T)
n.828+12G>T
 gnomAD v4
17g.46014338A>CCA2638367472MAPTc.910+14A>C (n.910+14A>C)
c.823+14A>C (n.823+14A>C)
c.997+14A>C (n.997+14A>C)
n.768+14A>C
n.223+14A>C
n.180A>C
c.2173+14A>C (n.2173+14A>C)
c.1882+14A>C (n.1882+14A>C)
c.817+14A>C (n.817+14A>C)
c.1948+14A>C (n.1948+14A>C)
c.730+14A>C (n.730+14A>C)
c.2002+14A>C (n.2002+14A>C)
c.904+14A>C (n.904+14A>C)
n.777-4280A>C
n.6189+14A>C
c.2260+14A>C (n.2260+14A>C)
c.2167+14A>C (n.2167+14A>C)
c.2086+14A>C (n.2086+14A>C)
c.2062+14A>C (n.2062+14A>C)
c.1969+14A>C (n.1969+14A>C)
c.1195+14A>C (n.1195+14A>C)
c.1108+14A>C (n.1108+14A>C)
c.1021+14A>C (n.1021+14A>C)
c.771+60A>C (n.771+60A>C)
n.828+14A>C
 gnomAD v4
17g.46014338A>GCA2638367473MAPTc.910+14A>G (n.910+14A>G)
c.823+14A>G (n.823+14A>G)
c.997+14A>G (n.997+14A>G)
n.768+14A>G
n.223+14A>G
n.180A>G
c.2173+14A>G (n.2173+14A>G)
c.1882+14A>G (n.1882+14A>G)
c.817+14A>G (n.817+14A>G)
c.1948+14A>G (n.1948+14A>G)
c.730+14A>G (n.730+14A>G)
c.2002+14A>G (n.2002+14A>G)
c.904+14A>G (n.904+14A>G)
n.777-4280A>G
n.6189+14A>G
c.2260+14A>G (n.2260+14A>G)
c.2167+14A>G (n.2167+14A>G)
c.2086+14A>G (n.2086+14A>G)
c.2062+14A>G (n.2062+14A>G)
c.1969+14A>G (n.1969+14A>G)
c.1195+14A>G (n.1195+14A>G)
c.1108+14A>G (n.1108+14A>G)
c.1021+14A>G (n.1021+14A>G)
c.771+60A>G (n.771+60A>G)
n.828+14A>G
 gnomAD v4
17g.46014338A>TCA2576298980MAPTc.910+14A>T (n.910+14A>T)
c.823+14A>T (n.823+14A>T)
c.997+14A>T (n.997+14A>T)
n.768+14A>T
n.223+14A>T
n.180A>T
c.2173+14A>T (n.2173+14A>T)
c.1882+14A>T (n.1882+14A>T)
c.817+14A>T (n.817+14A>T)
c.1948+14A>T (n.1948+14A>T)
c.730+14A>T (n.730+14A>T)
c.2002+14A>T (n.2002+14A>T)
c.904+14A>T (n.904+14A>T)
n.777-4280A>T
n.6189+14A>T
c.2260+14A>T (n.2260+14A>T)
c.2167+14A>T (n.2167+14A>T)
c.2086+14A>T (n.2086+14A>T)
c.2062+14A>T (n.2062+14A>T)
c.1969+14A>T (n.1969+14A>T)
c.1195+14A>T (n.1195+14A>T)
c.1108+14A>T (n.1108+14A>T)
c.1021+14A>T (n.1021+14A>T)
c.771+60A>T (n.771+60A>T)
n.828+14A>T
 dbSNP gnomAD v4

Number of alleles fetched