Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.46018652T>ACA500371244MAPTc.945T>A (p.Leu315=)
c.858T>A (p.Leu286=)
c.1032T>A (p.Leu344=)
n.803T>A
n.258T>A
n.216T>A
n.450T>A
c.2208T>A (p.Leu736=)
c.1917T>A (p.Leu639=)
c.852T>A (p.Leu284=)
c.981T>A (p.Leu327=)
c.1983T>A (p.Leu661=)
c.765T>A (p.Leu255=)
c.2037T>A (p.Leu679=)
c.939T>A (p.Leu313=)
n.811T>A
n.6224T>A
c.2295T>A (p.Leu765=)
c.2202T>A (p.Leu734=)
c.2121T>A (p.Leu707=)
c.2097T>A (p.Leu699=)
c.2004T>A (p.Leu668=)
c.1230T>A (p.Leu410=)
c.1143T>A (p.Leu381=)
c.1056T>A (p.Leu352=)
c.771+4374T>A (n.771+4374T>A)
n.863T>A
 dbSNP
17g.46018652T>CCA291114676MAPTc.945T>C (p.Leu315=)
c.858T>C (p.Leu286=)
c.1032T>C (p.Leu344=)
n.803T>C
n.258T>C
n.216T>C
n.450T>C
c.2208T>C (p.Leu736=)
c.1917T>C (p.Leu639=)
c.852T>C (p.Leu284=)
c.981T>C (p.Leu327=)
c.1983T>C (p.Leu661=)
c.765T>C (p.Leu255=)
c.2037T>C (p.Leu679=)
c.939T>C (p.Leu313=)
n.811T>C
n.6224T>C
c.2295T>C (p.Leu765=)
c.2202T>C (p.Leu734=)
c.2121T>C (p.Leu707=)
c.2097T>C (p.Leu699=)
c.2004T>C (p.Leu668=)
c.1230T>C (p.Leu410=)
c.1143T>C (p.Leu381=)
c.1056T>C (p.Leu352=)
c.771+4374T>C (n.771+4374T>C)
n.863T>C
 dbSNP gnomAD v4
17g.46018652T>GCA500371245MAPTc.945T>G (p.Leu315=)
c.858T>G (p.Leu286=)
c.1032T>G (p.Leu344=)
n.803T>G
n.258T>G
n.216T>G
n.450T>G
c.2208T>G (p.Leu736=)
c.1917T>G (p.Leu639=)
c.852T>G (p.Leu284=)
c.981T>G (p.Leu327=)
c.1983T>G (p.Leu661=)
c.765T>G (p.Leu255=)
c.2037T>G (p.Leu679=)
c.939T>G (p.Leu313=)
n.811T>G
n.6224T>G
c.2295T>G (p.Leu765=)
c.2202T>G (p.Leu734=)
c.2121T>G (p.Leu707=)
c.2097T>G (p.Leu699=)
c.2004T>G (p.Leu668=)
c.1230T>G (p.Leu410=)
c.1143T>G (p.Leu381=)
c.1056T>G (p.Leu352=)
c.771+4374T>G (n.771+4374T>G)
n.863T>G
17g.46018652T=CA2262104731MAPTc.945T= (p.Leu315=)
c.858T= (p.Leu286=)
c.1032T= (p.Leu344=)
n.803T=
n.258T=
n.216T=
n.450T=
c.2208T= (p.Leu736=)
c.1917T= (p.Leu639=)
c.852T= (p.Leu284=)
c.981T= (p.Leu327=)
c.1983T= (p.Leu661=)
c.765T= (p.Leu255=)
c.2037T= (p.Leu679=)
c.939T= (p.Leu313=)
n.811T=
n.6224T=
c.2295T= (p.Leu765=)
c.2202T= (p.Leu734=)
c.2121T= (p.Leu707=)
c.2097T= (p.Leu699=)
c.2004T= (p.Leu668=)
c.1230T= (p.Leu410=)
c.1143T= (p.Leu381=)
c.1056T= (p.Leu352=)
c.771+4374T= (n.771+4374T=)
n.863T=
17g.46018653G>ACA399983692MAPTc.946G>A (p.Asp316Asn)
c.859G>A (p.Asp287Asn)
c.1033G>A (p.Asp345Asn)
n.804G>A
n.259G>A
n.217G>A
n.451G>A
c.2209G>A (p.Asp737Asn)
c.1918G>A (p.Asp640Asn)
c.853G>A (p.Asp285Asn)
c.982G>A (p.Asp328Asn)
c.1984G>A (p.Asp662Asn)
c.766G>A (p.Asp256Asn)
c.2038G>A (p.Asp680Asn)
c.940G>A (p.Asp314Asn)
n.812G>A
n.6225G>A
c.2296G>A (p.Asp766Asn)
c.2203G>A (p.Asp735Asn)
c.2122G>A (p.Asp708Asn)
c.2098G>A (p.Asp700Asn)
c.2005G>A (p.Asp669Asn)
c.1231G>A (p.Asp411Asn)
c.1144G>A (p.Asp382Asn)
c.1057G>A (p.Asp353Asn)
c.771+4375G>A (n.771+4375G>A)
n.864G>A
17g.46018653G>CCA399983691MAPTc.946G>C (p.Asp316His)
c.859G>C (p.Asp287His)
c.1033G>C (p.Asp345His)
n.804G>C
n.259G>C
n.217G>C
n.451G>C
c.2209G>C (p.Asp737His)
c.1918G>C (p.Asp640His)
c.853G>C (p.Asp285His)
c.982G>C (p.Asp328His)
c.1984G>C (p.Asp662His)
c.766G>C (p.Asp256His)
c.2038G>C (p.Asp680His)
c.940G>C (p.Asp314His)
n.812G>C
n.6225G>C
c.2296G>C (p.Asp766His)
c.2203G>C (p.Asp735His)
c.2122G>C (p.Asp708His)
c.2098G>C (p.Asp700His)
c.2005G>C (p.Asp669His)
c.1231G>C (p.Asp411His)
c.1144G>C (p.Asp382His)
c.1057G>C (p.Asp353His)
c.771+4375G>C (n.771+4375G>C)
n.864G>C
17g.46018653G>TCA399983693MAPTc.946G>T (p.Asp316Tyr)
c.859G>T (p.Asp287Tyr)
c.1033G>T (p.Asp345Tyr)
n.804G>T
n.259G>T
n.217G>T
n.451G>T
c.2209G>T (p.Asp737Tyr)
c.1918G>T (p.Asp640Tyr)
c.853G>T (p.Asp285Tyr)
c.982G>T (p.Asp328Tyr)
c.1984G>T (p.Asp662Tyr)
c.766G>T (p.Asp256Tyr)
c.2038G>T (p.Asp680Tyr)
c.940G>T (p.Asp314Tyr)
n.812G>T
n.6225G>T
c.2296G>T (p.Asp766Tyr)
c.2203G>T (p.Asp735Tyr)
c.2122G>T (p.Asp708Tyr)
c.2098G>T (p.Asp700Tyr)
c.2005G>T (p.Asp669Tyr)
c.1231G>T (p.Asp411Tyr)
c.1144G>T (p.Asp382Tyr)
c.1057G>T (p.Asp353Tyr)
c.771+4375G>T (n.771+4375G>T)
n.864G>T
17g.46018654A>CCA399983694MAPTc.947A>C (p.Asp316Ala)
c.860A>C (p.Asp287Ala)
c.1034A>C (p.Asp345Ala)
n.805A>C
n.260A>C
n.218A>C
n.452A>C
c.2210A>C (p.Asp737Ala)
c.1919A>C (p.Asp640Ala)
c.854A>C (p.Asp285Ala)
c.983A>C (p.Asp328Ala)
c.1985A>C (p.Asp662Ala)
c.767A>C (p.Asp256Ala)
c.2039A>C (p.Asp680Ala)
c.941A>C (p.Asp314Ala)
n.813A>C
n.6226A>C
c.2297A>C (p.Asp766Ala)
c.2204A>C (p.Asp735Ala)
c.2123A>C (p.Asp708Ala)
c.2099A>C (p.Asp700Ala)
c.2006A>C (p.Asp669Ala)
c.1232A>C (p.Asp411Ala)
c.1145A>C (p.Asp382Ala)
c.1058A>C (p.Asp353Ala)
c.771+4376A>C (n.771+4376A>C)
n.865A>C
17g.46018654A>GCA399983696MAPTc.947A>G (p.Asp316Gly)
c.860A>G (p.Asp287Gly)
c.1034A>G (p.Asp345Gly)
n.805A>G
n.260A>G
n.218A>G
n.452A>G
c.2210A>G (p.Asp737Gly)
c.1919A>G (p.Asp640Gly)
c.854A>G (p.Asp285Gly)
c.983A>G (p.Asp328Gly)
c.1985A>G (p.Asp662Gly)
c.767A>G (p.Asp256Gly)
c.2039A>G (p.Asp680Gly)
c.941A>G (p.Asp314Gly)
n.813A>G
n.6226A>G
c.2297A>G (p.Asp766Gly)
c.2204A>G (p.Asp735Gly)
c.2123A>G (p.Asp708Gly)
c.2099A>G (p.Asp700Gly)
c.2006A>G (p.Asp669Gly)
c.1232A>G (p.Asp411Gly)
c.1145A>G (p.Asp382Gly)
c.1058A>G (p.Asp353Gly)
c.771+4376A>G (n.771+4376A>G)
n.865A>G
17g.46018654A>TCA399983695MAPTc.947A>T (p.Asp316Val)
c.860A>T (p.Asp287Val)
c.1034A>T (p.Asp345Val)
n.805A>T
n.260A>T
n.218A>T
n.452A>T
c.2210A>T (p.Asp737Val)
c.1919A>T (p.Asp640Val)
c.854A>T (p.Asp285Val)
c.983A>T (p.Asp328Val)
c.1985A>T (p.Asp662Val)
c.767A>T (p.Asp256Val)
c.2039A>T (p.Asp680Val)
c.941A>T (p.Asp314Val)
n.813A>T
n.6226A>T
c.2297A>T (p.Asp766Val)
c.2204A>T (p.Asp735Val)
c.2123A>T (p.Asp708Val)
c.2099A>T (p.Asp700Val)
c.2006A>T (p.Asp669Val)
c.1232A>T (p.Asp411Val)
c.1145A>T (p.Asp382Val)
c.1058A>T (p.Asp353Val)
c.771+4376A>T (n.771+4376A>T)
n.865A>T
17g.46018655C>ACA399983697MAPTc.948C>A (p.Asp316Glu)
c.861C>A (p.Asp287Glu)
c.1035C>A (p.Asp345Glu)
n.806C>A
n.261C>A
n.219C>A
n.453C>A
c.2211C>A (p.Asp737Glu)
c.1920C>A (p.Asp640Glu)
c.855C>A (p.Asp285Glu)
c.984C>A (p.Asp328Glu)
c.1986C>A (p.Asp662Glu)
c.768C>A (p.Asp256Glu)
c.2040C>A (p.Asp680Glu)
c.942C>A (p.Asp314Glu)
n.814C>A
n.6227C>A
c.2298C>A (p.Asp766Glu)
c.2205C>A (p.Asp735Glu)
c.2124C>A (p.Asp708Glu)
c.2100C>A (p.Asp700Glu)
c.2007C>A (p.Asp669Glu)
c.1233C>A (p.Asp411Glu)
c.1146C>A (p.Asp382Glu)
c.1059C>A (p.Asp353Glu)
c.771+4377C>A (n.771+4377C>A)
n.866C>A
17g.46018655C=CA2262104732MAPTc.948C= (p.Asp316=)
c.861C= (p.Asp287=)
c.1035C= (p.Asp345=)
n.806C=
n.261C=
n.219C=
n.453C=
c.2211C= (p.Asp737=)
c.1920C= (p.Asp640=)
c.855C= (p.Asp285=)
c.984C= (p.Asp328=)
c.1986C= (p.Asp662=)
c.768C= (p.Asp256=)
c.2040C= (p.Asp680=)
c.942C= (p.Asp314=)
n.814C=
n.6227C=
c.2298C= (p.Asp766=)
c.2205C= (p.Asp735=)
c.2124C= (p.Asp708=)
c.2100C= (p.Asp700=)
c.2007C= (p.Asp669=)
c.1233C= (p.Asp411=)
c.1146C= (p.Asp382=)
c.1059C= (p.Asp353=)
c.771+4377C= (n.771+4377C=)
n.866C=
17g.46018655C>GCA399983698MAPTc.948C>G (p.Asp316Glu)
c.861C>G (p.Asp287Glu)
c.1035C>G (p.Asp345Glu)
n.806C>G
n.261C>G
n.219C>G
n.453C>G
c.2211C>G (p.Asp737Glu)
c.1920C>G (p.Asp640Glu)
c.855C>G (p.Asp285Glu)
c.984C>G (p.Asp328Glu)
c.1986C>G (p.Asp662Glu)
c.768C>G (p.Asp256Glu)
c.2040C>G (p.Asp680Glu)
c.942C>G (p.Asp314Glu)
n.814C>G
n.6227C>G
c.2298C>G (p.Asp766Glu)
c.2205C>G (p.Asp735Glu)
c.2124C>G (p.Asp708Glu)
c.2100C>G (p.Asp700Glu)
c.2007C>G (p.Asp669Glu)
c.1233C>G (p.Asp411Glu)
c.1146C>G (p.Asp382Glu)
c.1059C>G (p.Asp353Glu)
c.771+4377C>G (n.771+4377C>G)
n.866C>G
17g.46018655C>TCA500371246MAPTc.948C>T (p.Asp316=)
c.861C>T (p.Asp287=)
c.1035C>T (p.Asp345=)
n.806C>T
n.261C>T
n.219C>T
n.453C>T
c.2211C>T (p.Asp737=)
c.1920C>T (p.Asp640=)
c.855C>T (p.Asp285=)
c.984C>T (p.Asp328=)
c.1986C>T (p.Asp662=)
c.768C>T (p.Asp256=)
c.2040C>T (p.Asp680=)
c.942C>T (p.Asp314=)
n.814C>T
n.6227C>T
c.2298C>T (p.Asp766=)
c.2205C>T (p.Asp735=)
c.2124C>T (p.Asp708=)
c.2100C>T (p.Asp700=)
c.2007C>T (p.Asp669=)
c.1233C>T (p.Asp411=)
c.1146C>T (p.Asp382=)
c.1059C>T (p.Asp353=)
c.771+4377C>T (n.771+4377C>T)
n.866C>T
 dbSNP gnomAD v3 gnomAD v4
17g.46018656T>ACA399983699MAPTc.949T>A (p.Phe317Ile)
c.862T>A (p.Phe288Ile)
c.1036T>A (p.Phe346Ile)
n.807T>A
n.262T>A
n.220T>A
n.454T>A
c.2212T>A (p.Phe738Ile)
c.1921T>A (p.Phe641Ile)
c.856T>A (p.Phe286Ile)
c.985T>A (p.Phe329Ile)
c.1987T>A (p.Phe663Ile)
c.769T>A (p.Phe257Ile)
c.2041T>A (p.Phe681Ile)
c.943T>A (p.Phe315Ile)
n.815T>A
n.6228T>A
c.2299T>A (p.Phe767Ile)
c.2206T>A (p.Phe736Ile)
c.2125T>A (p.Phe709Ile)
c.2101T>A (p.Phe701Ile)
c.2008T>A (p.Phe670Ile)
c.1234T>A (p.Phe412Ile)
c.1147T>A (p.Phe383Ile)
c.1060T>A (p.Phe354Ile)
c.771+4378T>A (n.771+4378T>A)
n.867T>A
17g.46018656T>CCA399983700MAPTc.949T>C (p.Phe317Leu)
c.862T>C (p.Phe288Leu)
c.1036T>C (p.Phe346Leu)
n.807T>C
n.262T>C
n.220T>C
n.454T>C
c.2212T>C (p.Phe738Leu)
c.1921T>C (p.Phe641Leu)
c.856T>C (p.Phe286Leu)
c.985T>C (p.Phe329Leu)
c.1987T>C (p.Phe663Leu)
c.769T>C (p.Phe257Leu)
c.2041T>C (p.Phe681Leu)
c.943T>C (p.Phe315Leu)
n.815T>C
n.6228T>C
c.2299T>C (p.Phe767Leu)
c.2206T>C (p.Phe736Leu)
c.2125T>C (p.Phe709Leu)
c.2101T>C (p.Phe701Leu)
c.2008T>C (p.Phe670Leu)
c.1234T>C (p.Phe412Leu)
c.1147T>C (p.Phe383Leu)
c.1060T>C (p.Phe354Leu)
c.771+4378T>C (n.771+4378T>C)
n.867T>C
17g.46018656T>GCA399983701MAPTc.949T>G (p.Phe317Val)
c.862T>G (p.Phe288Val)
c.1036T>G (p.Phe346Val)
n.807T>G
n.262T>G
n.220T>G
n.454T>G
c.2212T>G (p.Phe738Val)
c.1921T>G (p.Phe641Val)
c.856T>G (p.Phe286Val)
c.985T>G (p.Phe329Val)
c.1987T>G (p.Phe663Val)
c.769T>G (p.Phe257Val)
c.2041T>G (p.Phe681Val)
c.943T>G (p.Phe315Val)
n.815T>G
n.6228T>G
c.2299T>G (p.Phe767Val)
c.2206T>G (p.Phe736Val)
c.2125T>G (p.Phe709Val)
c.2101T>G (p.Phe701Val)
c.2008T>G (p.Phe670Val)
c.1234T>G (p.Phe412Val)
c.1147T>G (p.Phe383Val)
c.1060T>G (p.Phe354Val)
c.771+4378T>G (n.771+4378T>G)
n.867T>G
17g.46018657T>ACA399983702MAPTc.950T>A (p.Phe317Tyr)
c.863T>A (p.Phe288Tyr)
c.1037T>A (p.Phe346Tyr)
n.808T>A
n.263T>A
n.221T>A
n.455T>A
c.2213T>A (p.Phe738Tyr)
c.1922T>A (p.Phe641Tyr)
c.857T>A (p.Phe286Tyr)
c.986T>A (p.Phe329Tyr)
c.1988T>A (p.Phe663Tyr)
c.770T>A (p.Phe257Tyr)
c.2042T>A (p.Phe681Tyr)
c.944T>A (p.Phe315Tyr)
n.816T>A
n.6229T>A
c.2300T>A (p.Phe767Tyr)
c.2207T>A (p.Phe736Tyr)
c.2126T>A (p.Phe709Tyr)
c.2102T>A (p.Phe701Tyr)
c.2009T>A (p.Phe670Tyr)
c.1235T>A (p.Phe412Tyr)
c.1148T>A (p.Phe383Tyr)
c.1061T>A (p.Phe354Tyr)
c.771+4379T>A (n.771+4379T>A)
n.868T>A
17g.46018657T>CCA399983703MAPTc.950T>C (p.Phe317Ser)
c.863T>C (p.Phe288Ser)
c.1037T>C (p.Phe346Ser)
n.808T>C
n.263T>C
n.221T>C
n.455T>C
c.2213T>C (p.Phe738Ser)
c.1922T>C (p.Phe641Ser)
c.857T>C (p.Phe286Ser)
c.986T>C (p.Phe329Ser)
c.1988T>C (p.Phe663Ser)
c.770T>C (p.Phe257Ser)
c.2042T>C (p.Phe681Ser)
c.944T>C (p.Phe315Ser)
n.816T>C
n.6229T>C
c.2300T>C (p.Phe767Ser)
c.2207T>C (p.Phe736Ser)
c.2126T>C (p.Phe709Ser)
c.2102T>C (p.Phe701Ser)
c.2009T>C (p.Phe670Ser)
c.1235T>C (p.Phe412Ser)
c.1148T>C (p.Phe383Ser)
c.1061T>C (p.Phe354Ser)
c.771+4379T>C (n.771+4379T>C)
n.868T>C
17g.46018657T>GCA399983704MAPTc.950T>G (p.Phe317Cys)
c.863T>G (p.Phe288Cys)
c.1037T>G (p.Phe346Cys)
n.808T>G
n.263T>G
n.221T>G
n.455T>G
c.2213T>G (p.Phe738Cys)
c.1922T>G (p.Phe641Cys)
c.857T>G (p.Phe286Cys)
c.986T>G (p.Phe329Cys)
c.1988T>G (p.Phe663Cys)
c.770T>G (p.Phe257Cys)
c.2042T>G (p.Phe681Cys)
c.944T>G (p.Phe315Cys)
n.816T>G
n.6229T>G
c.2300T>G (p.Phe767Cys)
c.2207T>G (p.Phe736Cys)
c.2126T>G (p.Phe709Cys)
c.2102T>G (p.Phe701Cys)
c.2009T>G (p.Phe670Cys)
c.1235T>G (p.Phe412Cys)
c.1148T>G (p.Phe383Cys)
c.1061T>G (p.Phe354Cys)
c.771+4379T>G (n.771+4379T>G)
n.868T>G
17g.46018658C>ACA399983705MAPTc.951C>A (p.Phe317Leu)
c.864C>A (p.Phe288Leu)
c.1038C>A (p.Phe346Leu)
n.809C>A
n.264C>A
n.222C>A
n.456C>A
c.2214C>A (p.Phe738Leu)
c.1923C>A (p.Phe641Leu)
c.858C>A (p.Phe286Leu)
c.987C>A (p.Phe329Leu)
c.1989C>A (p.Phe663Leu)
c.771C>A (p.Phe257Leu)
c.2043C>A (p.Phe681Leu)
c.945C>A (p.Phe315Leu)
n.817C>A
n.6230C>A
c.2301C>A (p.Phe767Leu)
c.2208C>A (p.Phe736Leu)
c.2127C>A (p.Phe709Leu)
c.2103C>A (p.Phe701Leu)
c.2010C>A (p.Phe670Leu)
c.1236C>A (p.Phe412Leu)
c.1149C>A (p.Phe383Leu)
c.1062C>A (p.Phe354Leu)
c.771+4380C>A (n.771+4380C>A)
n.869C>A
17g.46018658C>GCA399983706MAPTc.951C>G (p.Phe317Leu)
c.864C>G (p.Phe288Leu)
c.1038C>G (p.Phe346Leu)
n.809C>G
n.264C>G
n.222C>G
n.456C>G
c.2214C>G (p.Phe738Leu)
c.1923C>G (p.Phe641Leu)
c.858C>G (p.Phe286Leu)
c.987C>G (p.Phe329Leu)
c.1989C>G (p.Phe663Leu)
c.771C>G (p.Phe257Leu)
c.2043C>G (p.Phe681Leu)
c.945C>G (p.Phe315Leu)
n.817C>G
n.6230C>G
c.2301C>G (p.Phe767Leu)
c.2208C>G (p.Phe736Leu)
c.2127C>G (p.Phe709Leu)
c.2103C>G (p.Phe701Leu)
c.2010C>G (p.Phe670Leu)
c.1236C>G (p.Phe412Leu)
c.1149C>G (p.Phe383Leu)
c.1062C>G (p.Phe354Leu)
c.771+4380C>G (n.771+4380C>G)
n.869C>G
17g.46018658C>TCA500371247MAPTc.951C>T (p.Phe317=)
c.864C>T (p.Phe288=)
c.1038C>T (p.Phe346=)
n.809C>T
n.264C>T
n.222C>T
n.456C>T
c.2214C>T (p.Phe738=)
c.1923C>T (p.Phe641=)
c.858C>T (p.Phe286=)
c.987C>T (p.Phe329=)
c.1989C>T (p.Phe663=)
c.771C>T (p.Phe257=)
c.2043C>T (p.Phe681=)
c.945C>T (p.Phe315=)
n.817C>T
n.6230C>T
c.2301C>T (p.Phe767=)
c.2208C>T (p.Phe736=)
c.2127C>T (p.Phe709=)
c.2103C>T (p.Phe701=)
c.2010C>T (p.Phe670=)
c.1236C>T (p.Phe412=)
c.1149C>T (p.Phe383=)
c.1062C>T (p.Phe354=)
c.771+4380C>T (n.771+4380C>T)
n.869C>T
17g.46018659A>CCA399983707MAPTc.952A>C (p.Lys318Gln)
c.865A>C (p.Lys289Gln)
c.1039A>C (p.Lys347Gln)
n.810A>C
n.265A>C
n.223A>C
n.457A>C
c.2215A>C (p.Lys739Gln)
c.1924A>C (p.Lys642Gln)
c.859A>C (p.Lys287Gln)
c.988A>C (p.Lys330Gln)
c.1990A>C (p.Lys664Gln)
c.772A>C (p.Lys258Gln)
c.2044A>C (p.Lys682Gln)
c.946A>C (p.Lys316Gln)
n.818A>C
n.6231A>C
c.2302A>C (p.Lys768Gln)
c.2209A>C (p.Lys737Gln)
c.2128A>C (p.Lys710Gln)
c.2104A>C (p.Lys702Gln)
c.2011A>C (p.Lys671Gln)
c.1237A>C (p.Lys413Gln)
c.1150A>C (p.Lys384Gln)
c.1063A>C (p.Lys355Gln)
c.771+4381A>C (n.771+4381A>C)
n.870A>C
17g.46018659A>GCA399983708MAPTc.952A>G (p.Lys318Glu)
c.865A>G (p.Lys289Glu)
c.1039A>G (p.Lys347Glu)
n.810A>G
n.265A>G
n.223A>G
n.457A>G
c.2215A>G (p.Lys739Glu)
c.1924A>G (p.Lys642Glu)
c.859A>G (p.Lys287Glu)
c.988A>G (p.Lys330Glu)
c.1990A>G (p.Lys664Glu)
c.772A>G (p.Lys258Glu)
c.2044A>G (p.Lys682Glu)
c.946A>G (p.Lys316Glu)
n.818A>G
n.6231A>G
c.2302A>G (p.Lys768Glu)
c.2209A>G (p.Lys737Glu)
c.2128A>G (p.Lys710Glu)
c.2104A>G (p.Lys702Glu)
c.2011A>G (p.Lys671Glu)
c.1237A>G (p.Lys413Glu)
c.1150A>G (p.Lys384Glu)
c.1063A>G (p.Lys355Glu)
c.771+4381A>G (n.771+4381A>G)
n.870A>G
17g.46018659A>TCA399983709MAPTc.952A>T (p.Lys318Ter)
c.865A>T (p.Lys289Ter)
c.1039A>T (p.Lys347Ter)
n.810A>T
n.265A>T
n.223A>T
n.457A>T
c.2215A>T (p.Lys739Ter)
c.1924A>T (p.Lys642Ter)
c.859A>T (p.Lys287Ter)
c.988A>T (p.Lys330Ter)
c.1990A>T (p.Lys664Ter)
c.772A>T (p.Lys258Ter)
c.2044A>T (p.Lys682Ter)
c.946A>T (p.Lys316Ter)
n.818A>T
n.6231A>T
c.2302A>T (p.Lys768Ter)
c.2209A>T (p.Lys737Ter)
c.2128A>T (p.Lys710Ter)
c.2104A>T (p.Lys702Ter)
c.2011A>T (p.Lys671Ter)
c.1237A>T (p.Lys413Ter)
c.1150A>T (p.Lys384Ter)
c.1063A>T (p.Lys355Ter)
c.771+4381A>T (n.771+4381A>T)
n.870A>T
17g.46018660A=CA2262104734MAPTc.953A= (p.Lys318=)
c.866A= (p.Lys289=)
c.1040A= (p.Lys347=)
n.811A=
n.266A=
n.224A=
n.458A=
c.2216A= (p.Lys739=)
c.1925A= (p.Lys642=)
c.860A= (p.Lys287=)
c.989A= (p.Lys330=)
c.1991A= (p.Lys664=)
c.773A= (p.Lys258=)
c.2045A= (p.Lys682=)
c.947A= (p.Lys316=)
n.819A=
n.6232A=
c.2303A= (p.Lys768=)
c.2210A= (p.Lys737=)
c.2129A= (p.Lys710=)
c.2105A= (p.Lys702=)
c.2012A= (p.Lys671=)
c.1238A= (p.Lys413=)
c.1151A= (p.Lys384=)
c.1064A= (p.Lys355=)
c.771+4382A= (n.771+4382A=)
n.871A=
17g.46018660A>CCA399983712MAPTc.953A>C (p.Lys318Thr)
c.866A>C (p.Lys289Thr)
c.1040A>C (p.Lys347Thr)
n.811A>C
n.266A>C
n.224A>C
n.458A>C
c.2216A>C (p.Lys739Thr)
c.1925A>C (p.Lys642Thr)
c.860A>C (p.Lys287Thr)
c.989A>C (p.Lys330Thr)
c.1991A>C (p.Lys664Thr)
c.773A>C (p.Lys258Thr)
c.2045A>C (p.Lys682Thr)
c.947A>C (p.Lys316Thr)
n.819A>C
n.6232A>C
c.2303A>C (p.Lys768Thr)
c.2210A>C (p.Lys737Thr)
c.2129A>C (p.Lys710Thr)
c.2105A>C (p.Lys702Thr)
c.2012A>C (p.Lys671Thr)
c.1238A>C (p.Lys413Thr)
c.1151A>C (p.Lys384Thr)
c.1064A>C (p.Lys355Thr)
c.771+4382A>C (n.771+4382A>C)
n.871A>C
17g.46018660A>GCA399983711MAPTc.953A>G (p.Lys318Arg)
c.866A>G (p.Lys289Arg)
c.1040A>G (p.Lys347Arg)
n.811A>G
n.266A>G
n.224A>G
n.458A>G
c.2216A>G (p.Lys739Arg)
c.1925A>G (p.Lys642Arg)
c.860A>G (p.Lys287Arg)
c.989A>G (p.Lys330Arg)
c.1991A>G (p.Lys664Arg)
c.773A>G (p.Lys258Arg)
c.2045A>G (p.Lys682Arg)
c.947A>G (p.Lys316Arg)
n.819A>G
n.6232A>G
c.2303A>G (p.Lys768Arg)
c.2210A>G (p.Lys737Arg)
c.2129A>G (p.Lys710Arg)
c.2105A>G (p.Lys702Arg)
c.2012A>G (p.Lys671Arg)
c.1238A>G (p.Lys413Arg)
c.1151A>G (p.Lys384Arg)
c.1064A>G (p.Lys355Arg)
c.771+4382A>G (n.771+4382A>G)
n.871A>G
 dbSNP gnomAD v4
17g.46018660A>TCA399983710MAPTc.953A>T (p.Lys318Met)
c.866A>T (p.Lys289Met)
c.1040A>T (p.Lys347Met)
n.811A>T
n.266A>T
n.224A>T
n.458A>T
c.2216A>T (p.Lys739Met)
c.1925A>T (p.Lys642Met)
c.860A>T (p.Lys287Met)
c.989A>T (p.Lys330Met)
c.1991A>T (p.Lys664Met)
c.773A>T (p.Lys258Met)
c.2045A>T (p.Lys682Met)
c.947A>T (p.Lys316Met)
n.819A>T
n.6232A>T
c.2303A>T (p.Lys768Met)
c.2210A>T (p.Lys737Met)
c.2129A>T (p.Lys710Met)
c.2105A>T (p.Lys702Met)
c.2012A>T (p.Lys671Met)
c.1238A>T (p.Lys413Met)
c.1151A>T (p.Lys384Met)
c.1064A>T (p.Lys355Met)
c.771+4382A>T (n.771+4382A>T)
n.871A>T
17g.46018660_46018679delinsAGGACAGAGTCCAGTCGAAGCA2262104733MAPTc.953_972delinsAGGACAGAGTCCAGTCGAAG (p.Lys318=)
c.866_885delinsAGGACAGAGTCCAGTCGAAG (p.Lys289=)
c.1040_1059delinsAGGACAGAGTCCAGTCGAAG (p.Lys347=)
n.811_830delinsAGGACAGAGTCCAGTCGAAG
n.266_285delinsAGGACAGAGTCCAGTCGAAG
n.224_243delinsAGGACAGAGTCCAGTCGAAG
n.458_477delinsAGGACAGAGTCCAGTCGAAG
c.2216_2235delinsAGGACAGAGTCCAGTCGAAG (p.Lys739=)
c.1925_1944delinsAGGACAGAGTCCAGTCGAAG (p.Lys642=)
c.860_879delinsAGGACAGAGTCCAGTCGAAG (p.Lys287=)
c.989_1008delinsAGGACAGAGTCCAGTCGAAG (p.Lys330=)
c.1991_2010delinsAGGACAGAGTCCAGTCGAAG (p.Lys664=)
c.773_792delinsAGGACAGAGTCCAGTCGAAG (p.Lys258=)
c.2045_2064delinsAGGACAGAGTCCAGTCGAAG (p.Lys682=)
c.947_966delinsAGGACAGAGTCCAGTCGAAG (p.Lys316=)
n.819_838delinsAGGACAGAGTCCAGTCGAAG
n.6232_6251delinsAGGACAGAGTCCAGTCGAAG
c.2303_2322delinsAGGACAGAGTCCAGTCGAAG (p.Lys768=)
c.2210_2229delinsAGGACAGAGTCCAGTCGAAG (p.Lys737=)
c.2129_2148delinsAGGACAGAGTCCAGTCGAAG (p.Lys710=)
c.2105_2124delinsAGGACAGAGTCCAGTCGAAG (p.Lys702=)
c.2012_2031delinsAGGACAGAGTCCAGTCGAAG (p.Lys671=)
c.1238_1257delinsAGGACAGAGTCCAGTCGAAG (p.Lys413=)
c.1151_1170delinsAGGACAGAGTCCAGTCGAAG (p.Lys384=)
c.1064_1083delinsAGGACAGAGTCCAGTCGAAG (p.Lys355=)
c.771+4382_771+4401delinsAGGACAGAGTCCAGTCGAAG (n.771+4382_771+4401delinsAGGACAGAGTCCAGTCGAAG)
n.871_890delinsAGGACAGAGTCCAGTCGAAG
17g.46018661G>ACA500371248MAPTc.954G>A (p.Lys318=)
c.867G>A (p.Lys289=)
c.1041G>A (p.Lys347=)
n.812G>A
n.267G>A
n.225G>A
n.459G>A
c.2217G>A (p.Lys739=)
c.1926G>A (p.Lys642=)
c.861G>A (p.Lys287=)
c.990G>A (p.Lys330=)
c.1992G>A (p.Lys664=)
c.774G>A (p.Lys258=)
c.2046G>A (p.Lys682=)
c.948G>A (p.Lys316=)
n.820G>A
n.6233G>A
c.2304G>A (p.Lys768=)
c.2211G>A (p.Lys737=)
c.2130G>A (p.Lys710=)
c.2106G>A (p.Lys702=)
c.2013G>A (p.Lys671=)
c.1239G>A (p.Lys413=)
c.1152G>A (p.Lys384=)
c.1065G>A (p.Lys355=)
c.771+4383G>A (n.771+4383G>A)
n.872G>A
17g.46018661G>CCA399983713MAPTc.954G>C (p.Lys318Asn)
c.867G>C (p.Lys289Asn)
c.1041G>C (p.Lys347Asn)
n.812G>C
n.267G>C
n.225G>C
n.459G>C
c.2217G>C (p.Lys739Asn)
c.1926G>C (p.Lys642Asn)
c.861G>C (p.Lys287Asn)
c.990G>C (p.Lys330Asn)
c.1992G>C (p.Lys664Asn)
c.774G>C (p.Lys258Asn)
c.2046G>C (p.Lys682Asn)
c.948G>C (p.Lys316Asn)
n.820G>C
n.6233G>C
c.2304G>C (p.Lys768Asn)
c.2211G>C (p.Lys737Asn)
c.2130G>C (p.Lys710Asn)
c.2106G>C (p.Lys702Asn)
c.2013G>C (p.Lys671Asn)
c.1239G>C (p.Lys413Asn)
c.1152G>C (p.Lys384Asn)
c.1065G>C (p.Lys355Asn)
c.771+4383G>C (n.771+4383G>C)
n.872G>C
17g.46018661G>TCA399983714MAPTc.954G>T (p.Lys318Asn)
c.867G>T (p.Lys289Asn)
c.1041G>T (p.Lys347Asn)
n.812G>T
n.267G>T
n.225G>T
n.459G>T
c.2217G>T (p.Lys739Asn)
c.1926G>T (p.Lys642Asn)
c.861G>T (p.Lys287Asn)
c.990G>T (p.Lys330Asn)
c.1992G>T (p.Lys664Asn)
c.774G>T (p.Lys258Asn)
c.2046G>T (p.Lys682Asn)
c.948G>T (p.Lys316Asn)
n.820G>T
n.6233G>T
c.2304G>T (p.Lys768Asn)
c.2211G>T (p.Lys737Asn)
c.2130G>T (p.Lys710Asn)
c.2106G>T (p.Lys702Asn)
c.2013G>T (p.Lys671Asn)
c.1239G>T (p.Lys413Asn)
c.1152G>T (p.Lys384Asn)
c.1065G>T (p.Lys355Asn)
c.771+4383G>T (n.771+4383G>T)
n.872G>T
17g.46018661_46018679delCA8618224MAPTc.954_972del (p.Asp319LeufsTer23)
c.867_885del (p.Asp290LeufsTer23)
c.1041_1059del (p.Asp348LeufsTer23)
n.812_830del
n.267_285del
n.225_243del
n.459_477del
c.2217_2235del (p.Asp740LeufsTer23)
c.1926_1944del (p.Asp643LeufsTer23)
c.861_879del (p.Asp288LeufsTer23)
c.990_1008del (p.Asp331LeufsTer23)
c.1992_2010del (p.Asp665LeufsTer23)
c.774_792del (p.Asp259LeufsTer23)
c.2046_2064del (p.Asp683LeufsTer23)
c.948_966del (p.Asp317LeufsTer23)
n.820_838del
n.6233_6251del
c.2304_2322del (p.Asp769LeufsTer23)
c.2211_2229del (p.Asp738LeufsTer23)
c.2130_2148del (p.Asp711LeufsTer23)
c.2106_2124del (p.Asp703LeufsTer23)
c.2013_2031del (p.Asp672LeufsTer23)
c.1239_1257del (p.Asp414LeufsTer23)
c.1152_1170del (p.Asp385LeufsTer23)
c.1065_1083del (p.Asp356LeufsTer23)
c.771+4383_771+4401del (n.771+4383_771+4401del)
n.872_890del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46018662G>ACA399983715MAPTc.955G>A (p.Asp319Asn)
c.868G>A (p.Asp290Asn)
c.1042G>A (p.Asp348Asn)
n.813G>A
n.268G>A
n.226G>A
n.460G>A
c.2218G>A (p.Asp740Asn)
c.1927G>A (p.Asp643Asn)
c.862G>A (p.Asp288Asn)
c.991G>A (p.Asp331Asn)
c.1993G>A (p.Asp665Asn)
c.775G>A (p.Asp259Asn)
c.2047G>A (p.Asp683Asn)
c.949G>A (p.Asp317Asn)
n.821G>A
n.6234G>A
c.2305G>A (p.Asp769Asn)
c.2212G>A (p.Asp738Asn)
c.2131G>A (p.Asp711Asn)
c.2107G>A (p.Asp703Asn)
c.2014G>A (p.Asp672Asn)
c.1240G>A (p.Asp414Asn)
c.1153G>A (p.Asp385Asn)
c.1066G>A (p.Asp356Asn)
c.771+4384G>A (n.771+4384G>A)
n.873G>A
17g.46018662G>CCA399983716MAPTc.955G>C (p.Asp319His)
c.868G>C (p.Asp290His)
c.1042G>C (p.Asp348His)
n.813G>C
n.268G>C
n.226G>C
n.460G>C
c.2218G>C (p.Asp740His)
c.1927G>C (p.Asp643His)
c.862G>C (p.Asp288His)
c.991G>C (p.Asp331His)
c.1993G>C (p.Asp665His)
c.775G>C (p.Asp259His)
c.2047G>C (p.Asp683His)
c.949G>C (p.Asp317His)
n.821G>C
n.6234G>C
c.2305G>C (p.Asp769His)
c.2212G>C (p.Asp738His)
c.2131G>C (p.Asp711His)
c.2107G>C (p.Asp703His)
c.2014G>C (p.Asp672His)
c.1240G>C (p.Asp414His)
c.1153G>C (p.Asp385His)
c.1066G>C (p.Asp356His)
c.771+4384G>C (n.771+4384G>C)
n.873G>C
17g.46018662G>TCA399983717MAPTc.955G>T (p.Asp319Tyr)
c.868G>T (p.Asp290Tyr)
c.1042G>T (p.Asp348Tyr)
n.813G>T
n.268G>T
n.226G>T
n.460G>T
c.2218G>T (p.Asp740Tyr)
c.1927G>T (p.Asp643Tyr)
c.862G>T (p.Asp288Tyr)
c.991G>T (p.Asp331Tyr)
c.1993G>T (p.Asp665Tyr)
c.775G>T (p.Asp259Tyr)
c.2047G>T (p.Asp683Tyr)
c.949G>T (p.Asp317Tyr)
n.821G>T
n.6234G>T
c.2305G>T (p.Asp769Tyr)
c.2212G>T (p.Asp738Tyr)
c.2131G>T (p.Asp711Tyr)
c.2107G>T (p.Asp703Tyr)
c.2014G>T (p.Asp672Tyr)
c.1240G>T (p.Asp414Tyr)
c.1153G>T (p.Asp385Tyr)
c.1066G>T (p.Asp356Tyr)
c.771+4384G>T (n.771+4384G>T)
n.873G>T
17g.46018663A>CCA399983718MAPTc.956A>C (p.Asp319Ala)
c.869A>C (p.Asp290Ala)
c.1043A>C (p.Asp348Ala)
n.814A>C
n.269A>C
n.227A>C
n.461A>C
c.2219A>C (p.Asp740Ala)
c.1928A>C (p.Asp643Ala)
c.863A>C (p.Asp288Ala)
c.992A>C (p.Asp331Ala)
c.1994A>C (p.Asp665Ala)
c.776A>C (p.Asp259Ala)
c.2048A>C (p.Asp683Ala)
c.950A>C (p.Asp317Ala)
n.822A>C
n.6235A>C
c.2306A>C (p.Asp769Ala)
c.2213A>C (p.Asp738Ala)
c.2132A>C (p.Asp711Ala)
c.2108A>C (p.Asp703Ala)
c.2015A>C (p.Asp672Ala)
c.1241A>C (p.Asp414Ala)
c.1154A>C (p.Asp385Ala)
c.1067A>C (p.Asp356Ala)
c.771+4385A>C (n.771+4385A>C)
n.874A>C
17g.46018663A>GCA399983719MAPTc.956A>G (p.Asp319Gly)
c.869A>G (p.Asp290Gly)
c.1043A>G (p.Asp348Gly)
n.814A>G
n.269A>G
n.227A>G
n.461A>G
c.2219A>G (p.Asp740Gly)
c.1928A>G (p.Asp643Gly)
c.863A>G (p.Asp288Gly)
c.992A>G (p.Asp331Gly)
c.1994A>G (p.Asp665Gly)
c.776A>G (p.Asp259Gly)
c.2048A>G (p.Asp683Gly)
c.950A>G (p.Asp317Gly)
n.822A>G
n.6235A>G
c.2306A>G (p.Asp769Gly)
c.2213A>G (p.Asp738Gly)
c.2132A>G (p.Asp711Gly)
c.2108A>G (p.Asp703Gly)
c.2015A>G (p.Asp672Gly)
c.1241A>G (p.Asp414Gly)
c.1154A>G (p.Asp385Gly)
c.1067A>G (p.Asp356Gly)
c.771+4385A>G (n.771+4385A>G)
n.874A>G
17g.46018663A>TCA399983720MAPTc.956A>T (p.Asp319Val)
c.869A>T (p.Asp290Val)
c.1043A>T (p.Asp348Val)
n.814A>T
n.269A>T
n.227A>T
n.461A>T
c.2219A>T (p.Asp740Val)
c.1928A>T (p.Asp643Val)
c.863A>T (p.Asp288Val)
c.992A>T (p.Asp331Val)
c.1994A>T (p.Asp665Val)
c.776A>T (p.Asp259Val)
c.2048A>T (p.Asp683Val)
c.950A>T (p.Asp317Val)
n.822A>T
n.6235A>T
c.2306A>T (p.Asp769Val)
c.2213A>T (p.Asp738Val)
c.2132A>T (p.Asp711Val)
c.2108A>T (p.Asp703Val)
c.2015A>T (p.Asp672Val)
c.1241A>T (p.Asp414Val)
c.1154A>T (p.Asp385Val)
c.1067A>T (p.Asp356Val)
c.771+4385A>T (n.771+4385A>T)
n.874A>T
17g.46018664C>ACA399983721MAPTc.957C>A (p.Asp319Glu)
c.870C>A (p.Asp290Glu)
c.1044C>A (p.Asp348Glu)
n.815C>A
n.270C>A
n.228C>A
n.462C>A
c.2220C>A (p.Asp740Glu)
c.1929C>A (p.Asp643Glu)
c.864C>A (p.Asp288Glu)
c.993C>A (p.Asp331Glu)
c.1995C>A (p.Asp665Glu)
c.777C>A (p.Asp259Glu)
c.2049C>A (p.Asp683Glu)
c.951C>A (p.Asp317Glu)
n.823C>A
n.6236C>A
c.2307C>A (p.Asp769Glu)
c.2214C>A (p.Asp738Glu)
c.2133C>A (p.Asp711Glu)
c.2109C>A (p.Asp703Glu)
c.2016C>A (p.Asp672Glu)
c.1242C>A (p.Asp414Glu)
c.1155C>A (p.Asp385Glu)
c.1068C>A (p.Asp356Glu)
c.771+4386C>A (n.771+4386C>A)
n.875C>A
17g.46018664C>GCA399983722MAPTc.957C>G (p.Asp319Glu)
c.870C>G (p.Asp290Glu)
c.1044C>G (p.Asp348Glu)
n.815C>G
n.270C>G
n.228C>G
n.462C>G
c.2220C>G (p.Asp740Glu)
c.1929C>G (p.Asp643Glu)
c.864C>G (p.Asp288Glu)
c.993C>G (p.Asp331Glu)
c.1995C>G (p.Asp665Glu)
c.777C>G (p.Asp259Glu)
c.2049C>G (p.Asp683Glu)
c.951C>G (p.Asp317Glu)
n.823C>G
n.6236C>G
c.2307C>G (p.Asp769Glu)
c.2214C>G (p.Asp738Glu)
c.2133C>G (p.Asp711Glu)
c.2109C>G (p.Asp703Glu)
c.2016C>G (p.Asp672Glu)
c.1242C>G (p.Asp414Glu)
c.1155C>G (p.Asp385Glu)
c.1068C>G (p.Asp356Glu)
c.771+4386C>G (n.771+4386C>G)
n.875C>G
17g.46018664C>TCA500371249MAPTc.957C>T (p.Asp319=)
c.870C>T (p.Asp290=)
c.1044C>T (p.Asp348=)
n.815C>T
n.270C>T
n.228C>T
n.462C>T
c.2220C>T (p.Asp740=)
c.1929C>T (p.Asp643=)
c.864C>T (p.Asp288=)
c.993C>T (p.Asp331=)
c.1995C>T (p.Asp665=)
c.777C>T (p.Asp259=)
c.2049C>T (p.Asp683=)
c.951C>T (p.Asp317=)
n.823C>T
n.6236C>T
c.2307C>T (p.Asp769=)
c.2214C>T (p.Asp738=)
c.2133C>T (p.Asp711=)
c.2109C>T (p.Asp703=)
c.2016C>T (p.Asp672=)
c.1242C>T (p.Asp414=)
c.1155C>T (p.Asp385=)
c.1068C>T (p.Asp356=)
c.771+4386C>T (n.771+4386C>T)
n.875C>T
17g.46018665A>CCA500371250MAPTc.958A>C (p.Arg320=)
c.871A>C (p.Arg291=)
c.1045A>C (p.Arg349=)
n.816A>C
n.271A>C
n.229A>C
n.463A>C
c.2221A>C (p.Arg741=)
c.1930A>C (p.Arg644=)
c.865A>C (p.Arg289=)
c.994A>C (p.Arg332=)
c.1996A>C (p.Arg666=)
c.778A>C (p.Arg260=)
c.2050A>C (p.Arg684=)
c.952A>C (p.Arg318=)
n.824A>C
n.6237A>C
c.2308A>C (p.Arg770=)
c.2215A>C (p.Arg739=)
c.2134A>C (p.Arg712=)
c.2110A>C (p.Arg704=)
c.2017A>C (p.Arg673=)
c.1243A>C (p.Arg415=)
c.1156A>C (p.Arg386=)
c.1069A>C (p.Arg357=)
c.771+4387A>C (n.771+4387A>C)
n.876A>C
17g.46018665A>GCA399983723MAPTc.958A>G (p.Arg320Gly)
c.871A>G (p.Arg291Gly)
c.1045A>G (p.Arg349Gly)
n.816A>G
n.271A>G
n.229A>G
n.463A>G
c.2221A>G (p.Arg741Gly)
c.1930A>G (p.Arg644Gly)
c.865A>G (p.Arg289Gly)
c.994A>G (p.Arg332Gly)
c.1996A>G (p.Arg666Gly)
c.778A>G (p.Arg260Gly)
c.2050A>G (p.Arg684Gly)
c.952A>G (p.Arg318Gly)
n.824A>G
n.6237A>G
c.2308A>G (p.Arg770Gly)
c.2215A>G (p.Arg739Gly)
c.2134A>G (p.Arg712Gly)
c.2110A>G (p.Arg704Gly)
c.2017A>G (p.Arg673Gly)
c.1243A>G (p.Arg415Gly)
c.1156A>G (p.Arg386Gly)
c.1069A>G (p.Arg357Gly)
c.771+4387A>G (n.771+4387A>G)
n.876A>G
17g.46018665A>TCA399983724MAPTc.958A>T (p.Arg320Ter)
c.871A>T (p.Arg291Ter)
c.1045A>T (p.Arg349Ter)
n.816A>T
n.271A>T
n.229A>T
n.463A>T
c.2221A>T (p.Arg741Ter)
c.1930A>T (p.Arg644Ter)
c.865A>T (p.Arg289Ter)
c.994A>T (p.Arg332Ter)
c.1996A>T (p.Arg666Ter)
c.778A>T (p.Arg260Ter)
c.2050A>T (p.Arg684Ter)
c.952A>T (p.Arg318Ter)
n.824A>T
n.6237A>T
c.2308A>T (p.Arg770Ter)
c.2215A>T (p.Arg739Ter)
c.2134A>T (p.Arg712Ter)
c.2110A>T (p.Arg704Ter)
c.2017A>T (p.Arg673Ter)
c.1243A>T (p.Arg415Ter)
c.1156A>T (p.Arg386Ter)
c.1069A>T (p.Arg357Ter)
c.771+4387A>T (n.771+4387A>T)
n.876A>T
17g.46018666G>ACA399983726MAPTc.959G>A (p.Arg320Lys)
c.872G>A (p.Arg291Lys)
c.1046G>A (p.Arg349Lys)
n.817G>A
n.272G>A
n.230G>A
n.464G>A
c.2222G>A (p.Arg741Lys)
c.1931G>A (p.Arg644Lys)
c.866G>A (p.Arg289Lys)
c.995G>A (p.Arg332Lys)
c.1997G>A (p.Arg666Lys)
c.779G>A (p.Arg260Lys)
c.2051G>A (p.Arg684Lys)
c.953G>A (p.Arg318Lys)
n.825G>A
n.6238G>A
c.2309G>A (p.Arg770Lys)
c.2216G>A (p.Arg739Lys)
c.2135G>A (p.Arg712Lys)
c.2111G>A (p.Arg704Lys)
c.2018G>A (p.Arg673Lys)
c.1244G>A (p.Arg415Lys)
c.1157G>A (p.Arg386Lys)
c.1070G>A (p.Arg357Lys)
c.771+4388G>A (n.771+4388G>A)
n.877G>A
17g.46018666G>CCA399983727MAPTc.959G>C (p.Arg320Thr)
c.872G>C (p.Arg291Thr)
c.1046G>C (p.Arg349Thr)
n.817G>C
n.272G>C
n.230G>C
n.464G>C
c.2222G>C (p.Arg741Thr)
c.1931G>C (p.Arg644Thr)
c.866G>C (p.Arg289Thr)
c.995G>C (p.Arg332Thr)
c.1997G>C (p.Arg666Thr)
c.779G>C (p.Arg260Thr)
c.2051G>C (p.Arg684Thr)
c.953G>C (p.Arg318Thr)
n.825G>C
n.6238G>C
c.2309G>C (p.Arg770Thr)
c.2216G>C (p.Arg739Thr)
c.2135G>C (p.Arg712Thr)
c.2111G>C (p.Arg704Thr)
c.2018G>C (p.Arg673Thr)
c.1244G>C (p.Arg415Thr)
c.1157G>C (p.Arg386Thr)
c.1070G>C (p.Arg357Thr)
c.771+4388G>C (n.771+4388G>C)
n.877G>C
17g.46018666G>TCA399983725MAPTc.959G>T (p.Arg320Ile)
c.872G>T (p.Arg291Ile)
c.1046G>T (p.Arg349Ile)
n.817G>T
n.272G>T
n.230G>T
n.464G>T
c.2222G>T (p.Arg741Ile)
c.1931G>T (p.Arg644Ile)
c.866G>T (p.Arg289Ile)
c.995G>T (p.Arg332Ile)
c.1997G>T (p.Arg666Ile)
c.779G>T (p.Arg260Ile)
c.2051G>T (p.Arg684Ile)
c.953G>T (p.Arg318Ile)
n.825G>T
n.6238G>T
c.2309G>T (p.Arg770Ile)
c.2216G>T (p.Arg739Ile)
c.2135G>T (p.Arg712Ile)
c.2111G>T (p.Arg704Ile)
c.2018G>T (p.Arg673Ile)
c.1244G>T (p.Arg415Ile)
c.1157G>T (p.Arg386Ile)
c.1070G>T (p.Arg357Ile)
c.771+4388G>T (n.771+4388G>T)
n.877G>T

Number of alleles fetched