Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched