| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46014277A= | CA2262102718 | MAPT | c.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= | |
| 17 | g.46014277A>C | CA399983492 | MAPT | c.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 | |
| 17 | g.46014277A>G | CA399983493 | MAPT | c.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 | |
| 17 | g.46014277A>T | CA225473 | MAPT | c.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 |
| 17 | g.46014278G>A | CA500371179 | MAPT | c.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 | |
| 17 | g.46014278G>C | CA399983495 | MAPT | c.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 | |
| 17 | g.46014278G>T | CA399983494 | MAPT | c.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 | |
| 17 | g.46014279G>A | CA399983496 | MAPT | c.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 | |
| 17 | g.46014279G>C | CA399983497 | MAPT | c.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 | |
| 17 | g.46014279G>T | CA399983498 | MAPT | c.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 | |
| 17 | g.46014280T>A | CA399983499 | MAPT | c.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 | |
| 17 | g.46014280T>C | CA399983500 | MAPT | c.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 | |
| 17 | g.46014280T>G | CA399983501 | MAPT | c.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 | |
| 17 | g.46014281G>A | CA500371182 | MAPT | c.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 |
| 17 | g.46014281G>C | CA500371180 | MAPT | c.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 | |
| 17 | g.46014281G>T | CA500371181 | MAPT | c.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 | |
| 17 | g.46014282A>C | CA399983502 | MAPT | c.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 | |
| 17 | g.46014282A>G | CA399983503 | MAPT | c.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 | |
| 17 | g.46014282A>T | CA399983504 | MAPT | c.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 | |
| 17 | g.46014283C>A | CA399983505 | MAPT | c.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 | |
| 17 | g.46014283C>G | CA399983506 | MAPT | c.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 | |
| 17 | g.46014283C>T | CA399983507 | MAPT | c.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 | |
| 17 | g.46014284C>A | CA500371184 | MAPT | c.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 | |
| 17 | g.46014284C>G | CA500371185 | MAPT | c.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 | |
| 17 | g.46014284C>T | CA500371183 | MAPT | c.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 | |
| 17 | g.46014285T>A | CA399983509 | MAPT | c.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 | |
| 17 | g.46014285T>C | CA399983510 | MAPT | c.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 | |
| 17 | g.46014285T>G | CA399983508 | MAPT | c.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 | |
| 17 | g.46014286C>A | CA399983511 | MAPT | c.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 | |
| 17 | g.46014286C= | CA2262102719 | MAPT | c.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= | |
| 17 | g.46014286C>G | CA399983512 | MAPT | c.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 | |
| 17 | g.46014286C>T | CA225475 | MAPT | c.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 |
| 17 | g.46014287C>A | CA500371187 | MAPT | c.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 | |
| 17 | g.46014287C= | CA2262102720 | MAPT | c.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= | |
| 17 | g.46014287C>G | CA500371188 | MAPT | c.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 | |
| 17 | g.46014287C>T | CA500371186 | MAPT | c.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 |
| 17 | g.46014288A>C | CA399983513 | MAPT | c.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 | |
| 17 | g.46014288A>G | CA399983514 | MAPT | c.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 | |
| 17 | g.46014288A>T | CA399983515 | MAPT | c.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 | |
| 17 | g.46014289A>C | CA399983516 | MAPT | c.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 | |
| 17 | g.46014289A>G | CA399983518 | MAPT | c.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 | |
| 17 | g.46014289A>T | CA399983517 | MAPT | c.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 | |
| 17 | g.46014290G>A | CA500371189 | MAPT | c.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 | |
| 17 | g.46014290G>C | CA399983519 | MAPT | c.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 |
| 17 | g.46014290G= | CA2262102721 | MAPT | c.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= | |
| 17 | g.46014290G>T | CA399983520 | MAPT | c.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 | |
| 17 | g.46014291T>A | CA399983521 | MAPT | c.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 | |
| 17 | g.46014291T>C | CA399983522 | MAPT | c.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 | |
| 17 | g.46014291T>G | CA399983523 | MAPT | c.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 |
| 17 | g.46014292G>A | CA399983525 | MAPT | c.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 |