| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46018629G>A | CA225483 | MAPT | c.922G>A (p.Val308Met) c.835G>A (p.Val279Met) c.1009G>A (p.Val337Met) n.780G>A n.235G>A n.193G>A n.427G>A c.2185G>A (p.Val729Met) c.1894G>A (p.Val632Met) c.829G>A (p.Val277Met) c.958G>A (p.Val320Met) c.1960G>A (p.Val654Met) c.742G>A (p.Val248Met) c.2014G>A (p.Val672Met) c.916G>A (p.Val306Met) n.788G>A n.6201G>A c.2272G>A (p.Val758Met) c.2179G>A (p.Val727Met) c.2098G>A (p.Val700Met) c.2074G>A (p.Val692Met) c.1981G>A (p.Val661Met) c.1207G>A (p.Val403Met) c.1120G>A (p.Val374Met) c.1033G>A (p.Val345Met) c.771+4351G>A (n.771+4351G>A) n.840G>A | ClinVar dbSNP |
| 17 | g.46018629G>C | CA399983636 | MAPT | c.922G>C (p.Val308Leu) c.835G>C (p.Val279Leu) c.1009G>C (p.Val337Leu) n.780G>C n.235G>C n.193G>C n.427G>C c.2185G>C (p.Val729Leu) c.1894G>C (p.Val632Leu) c.829G>C (p.Val277Leu) c.958G>C (p.Val320Leu) c.1960G>C (p.Val654Leu) c.742G>C (p.Val248Leu) c.2014G>C (p.Val672Leu) c.916G>C (p.Val306Leu) n.788G>C n.6201G>C c.2272G>C (p.Val758Leu) c.2179G>C (p.Val727Leu) c.2098G>C (p.Val700Leu) c.2074G>C (p.Val692Leu) c.1981G>C (p.Val661Leu) c.1207G>C (p.Val403Leu) c.1120G>C (p.Val374Leu) c.1033G>C (p.Val345Leu) c.771+4351G>C (n.771+4351G>C) n.840G>C | |
| 17 | g.46018629G= | CA2262104727 | MAPT | c.922G= (p.Val308=) c.835G= (p.Val279=) c.1009G= (p.Val337=) n.780G= n.235G= n.193G= n.427G= c.2185G= (p.Val729=) c.1894G= (p.Val632=) c.829G= (p.Val277=) c.958G= (p.Val320=) c.1960G= (p.Val654=) c.742G= (p.Val248=) c.2014G= (p.Val672=) c.916G= (p.Val306=) n.788G= n.6201G= c.2272G= (p.Val758=) c.2179G= (p.Val727=) c.2098G= (p.Val700=) c.2074G= (p.Val692=) c.1981G= (p.Val661=) c.1207G= (p.Val403=) c.1120G= (p.Val374=) c.1033G= (p.Val345=) c.771+4351G= (n.771+4351G=) n.840G= | |
| 17 | g.46018629G>T | CA399983637 | MAPT | c.922G>T (p.Val308Leu) c.835G>T (p.Val279Leu) c.1009G>T (p.Val337Leu) n.780G>T n.235G>T n.193G>T n.427G>T c.2185G>T (p.Val729Leu) c.1894G>T (p.Val632Leu) c.829G>T (p.Val277Leu) c.958G>T (p.Val320Leu) c.1960G>T (p.Val654Leu) c.742G>T (p.Val248Leu) c.2014G>T (p.Val672Leu) c.916G>T (p.Val306Leu) n.788G>T n.6201G>T c.2272G>T (p.Val758Leu) c.2179G>T (p.Val727Leu) c.2098G>T (p.Val700Leu) c.2074G>T (p.Val692Leu) c.1981G>T (p.Val661Leu) c.1207G>T (p.Val403Leu) c.1120G>T (p.Val374Leu) c.1033G>T (p.Val345Leu) c.771+4351G>T (n.771+4351G>T) n.840G>T | |
| 17 | g.46018630T>A | CA399983638 | MAPT | c.923T>A (p.Val308Glu) c.836T>A (p.Val279Glu) c.1010T>A (p.Val337Glu) n.781T>A n.236T>A n.194T>A n.428T>A c.2186T>A (p.Val729Glu) c.1895T>A (p.Val632Glu) c.830T>A (p.Val277Glu) c.959T>A (p.Val320Glu) c.1961T>A (p.Val654Glu) c.743T>A (p.Val248Glu) c.2015T>A (p.Val672Glu) c.917T>A (p.Val306Glu) n.789T>A n.6202T>A c.2273T>A (p.Val758Glu) c.2180T>A (p.Val727Glu) c.2099T>A (p.Val700Glu) c.2075T>A (p.Val692Glu) c.1982T>A (p.Val661Glu) c.1208T>A (p.Val403Glu) c.1121T>A (p.Val374Glu) c.1034T>A (p.Val345Glu) c.771+4352T>A (n.771+4352T>A) n.841T>A | |
| 17 | g.46018630T>C | CA399983640 | MAPT | c.923T>C (p.Val308Ala) c.836T>C (p.Val279Ala) c.1010T>C (p.Val337Ala) n.781T>C n.236T>C n.194T>C n.428T>C c.2186T>C (p.Val729Ala) c.1895T>C (p.Val632Ala) c.830T>C (p.Val277Ala) c.959T>C (p.Val320Ala) c.1961T>C (p.Val654Ala) c.743T>C (p.Val248Ala) c.2015T>C (p.Val672Ala) c.917T>C (p.Val306Ala) n.789T>C n.6202T>C c.2273T>C (p.Val758Ala) c.2180T>C (p.Val727Ala) c.2099T>C (p.Val700Ala) c.2075T>C (p.Val692Ala) c.1982T>C (p.Val661Ala) c.1208T>C (p.Val403Ala) c.1121T>C (p.Val374Ala) c.1034T>C (p.Val345Ala) c.771+4352T>C (n.771+4352T>C) n.841T>C | |
| 17 | g.46018630T>G | CA399983639 | MAPT | c.923T>G (p.Val308Gly) c.836T>G (p.Val279Gly) c.1010T>G (p.Val337Gly) n.781T>G n.236T>G n.194T>G n.428T>G c.2186T>G (p.Val729Gly) c.1895T>G (p.Val632Gly) c.830T>G (p.Val277Gly) c.959T>G (p.Val320Gly) c.1961T>G (p.Val654Gly) c.743T>G (p.Val248Gly) c.2015T>G (p.Val672Gly) c.917T>G (p.Val306Gly) n.789T>G n.6202T>G c.2273T>G (p.Val758Gly) c.2180T>G (p.Val727Gly) c.2099T>G (p.Val700Gly) c.2075T>G (p.Val692Gly) c.1982T>G (p.Val661Gly) c.1208T>G (p.Val403Gly) c.1121T>G (p.Val374Gly) c.1034T>G (p.Val345Gly) c.771+4352T>G (n.771+4352T>G) n.841T>G | |
| 17 | g.46018631G>A | CA500371234 | MAPT | c.924G>A (p.Val308=) c.837G>A (p.Val279=) c.1011G>A (p.Val337=) n.782G>A n.237G>A n.195G>A n.429G>A c.2187G>A (p.Val729=) c.1896G>A (p.Val632=) c.831G>A (p.Val277=) c.960G>A (p.Val320=) c.1962G>A (p.Val654=) c.744G>A (p.Val248=) c.2016G>A (p.Val672=) c.918G>A (p.Val306=) n.790G>A n.6203G>A c.2274G>A (p.Val758=) c.2181G>A (p.Val727=) c.2100G>A (p.Val700=) c.2076G>A (p.Val692=) c.1983G>A (p.Val661=) c.1209G>A (p.Val403=) c.1122G>A (p.Val374=) c.1035G>A (p.Val345=) c.771+4353G>A (n.771+4353G>A) n.842G>A | |
| 17 | g.46018631G>C | CA500371232 | MAPT | c.924G>C (p.Val308=) c.837G>C (p.Val279=) c.1011G>C (p.Val337=) n.782G>C n.237G>C n.195G>C n.429G>C c.2187G>C (p.Val729=) c.1896G>C (p.Val632=) c.831G>C (p.Val277=) c.960G>C (p.Val320=) c.1962G>C (p.Val654=) c.744G>C (p.Val248=) c.2016G>C (p.Val672=) c.918G>C (p.Val306=) n.790G>C n.6203G>C c.2274G>C (p.Val758=) c.2181G>C (p.Val727=) c.2100G>C (p.Val700=) c.2076G>C (p.Val692=) c.1983G>C (p.Val661=) c.1209G>C (p.Val403=) c.1122G>C (p.Val374=) c.1035G>C (p.Val345=) c.771+4353G>C (n.771+4353G>C) n.842G>C | |
| 17 | g.46018631G>T | CA500371233 | MAPT | c.924G>T (p.Val308=) c.837G>T (p.Val279=) c.1011G>T (p.Val337=) n.782G>T n.237G>T n.195G>T n.429G>T c.2187G>T (p.Val729=) c.1896G>T (p.Val632=) c.831G>T (p.Val277=) c.960G>T (p.Val320=) c.1962G>T (p.Val654=) c.744G>T (p.Val248=) c.2016G>T (p.Val672=) c.918G>T (p.Val306=) n.790G>T n.6203G>T c.2274G>T (p.Val758=) c.2181G>T (p.Val727=) c.2100G>T (p.Val700=) c.2076G>T (p.Val692=) c.1983G>T (p.Val661=) c.1209G>T (p.Val403=) c.1122G>T (p.Val374=) c.1035G>T (p.Val345=) c.771+4353G>T (n.771+4353G>T) n.842G>T | |
| 17 | g.46018632G>A | CA399983641 | MAPT | c.925G>A (p.Glu309Lys) c.838G>A (p.Glu280Lys) c.1012G>A (p.Glu338Lys) n.783G>A n.238G>A n.196G>A n.430G>A c.2188G>A (p.Glu730Lys) c.1897G>A (p.Glu633Lys) c.832G>A (p.Glu278Lys) c.961G>A (p.Glu321Lys) c.1963G>A (p.Glu655Lys) c.745G>A (p.Glu249Lys) c.2017G>A (p.Glu673Lys) c.919G>A (p.Glu307Lys) n.791G>A n.6204G>A c.2275G>A (p.Glu759Lys) c.2182G>A (p.Glu728Lys) c.2101G>A (p.Glu701Lys) c.2077G>A (p.Glu693Lys) c.1984G>A (p.Glu662Lys) c.1210G>A (p.Glu404Lys) c.1123G>A (p.Glu375Lys) c.1036G>A (p.Glu346Lys) c.771+4354G>A (n.771+4354G>A) n.843G>A | |
| 17 | g.46018632G>C | CA399983642 | MAPT | c.925G>C (p.Glu309Gln) c.838G>C (p.Glu280Gln) c.1012G>C (p.Glu338Gln) n.783G>C n.238G>C n.196G>C n.430G>C c.2188G>C (p.Glu730Gln) c.1897G>C (p.Glu633Gln) c.832G>C (p.Glu278Gln) c.961G>C (p.Glu321Gln) c.1963G>C (p.Glu655Gln) c.745G>C (p.Glu249Gln) c.2017G>C (p.Glu673Gln) c.919G>C (p.Glu307Gln) n.791G>C n.6204G>C c.2275G>C (p.Glu759Gln) c.2182G>C (p.Glu728Gln) c.2101G>C (p.Glu701Gln) c.2077G>C (p.Glu693Gln) c.1984G>C (p.Glu662Gln) c.1210G>C (p.Glu404Gln) c.1123G>C (p.Glu375Gln) c.1036G>C (p.Glu346Gln) c.771+4354G>C (n.771+4354G>C) n.843G>C | |
| 17 | g.46018632G>T | CA399983643 | MAPT | c.925G>T (p.Glu309Ter) c.838G>T (p.Glu280Ter) c.1012G>T (p.Glu338Ter) n.783G>T n.238G>T n.196G>T n.430G>T c.2188G>T (p.Glu730Ter) c.1897G>T (p.Glu633Ter) c.832G>T (p.Glu278Ter) c.961G>T (p.Glu321Ter) c.1963G>T (p.Glu655Ter) c.745G>T (p.Glu249Ter) c.2017G>T (p.Glu673Ter) c.919G>T (p.Glu307Ter) n.791G>T n.6204G>T c.2275G>T (p.Glu759Ter) c.2182G>T (p.Glu728Ter) c.2101G>T (p.Glu701Ter) c.2077G>T (p.Glu693Ter) c.1984G>T (p.Glu662Ter) c.1210G>T (p.Glu404Ter) c.1123G>T (p.Glu375Ter) c.1036G>T (p.Glu346Ter) c.771+4354G>T (n.771+4354G>T) n.843G>T | COSMIC COSMIC |
| 17 | g.46018633A>C | CA399983644 | MAPT | c.926A>C (p.Glu309Ala) c.839A>C (p.Glu280Ala) c.1013A>C (p.Glu338Ala) n.784A>C n.239A>C n.197A>C n.431A>C c.2189A>C (p.Glu730Ala) c.1898A>C (p.Glu633Ala) c.833A>C (p.Glu278Ala) c.962A>C (p.Glu321Ala) c.1964A>C (p.Glu655Ala) c.746A>C (p.Glu249Ala) c.2018A>C (p.Glu673Ala) c.920A>C (p.Glu307Ala) n.792A>C n.6205A>C c.2276A>C (p.Glu759Ala) c.2183A>C (p.Glu728Ala) c.2102A>C (p.Glu701Ala) c.2078A>C (p.Glu693Ala) c.1985A>C (p.Glu662Ala) c.1211A>C (p.Glu404Ala) c.1124A>C (p.Glu375Ala) c.1037A>C (p.Glu346Ala) c.771+4355A>C (n.771+4355A>C) n.844A>C | |
| 17 | g.46018633A>G | CA399983645 | MAPT | c.926A>G (p.Glu309Gly) c.839A>G (p.Glu280Gly) c.1013A>G (p.Glu338Gly) n.784A>G n.239A>G n.197A>G n.431A>G c.2189A>G (p.Glu730Gly) c.1898A>G (p.Glu633Gly) c.833A>G (p.Glu278Gly) c.962A>G (p.Glu321Gly) c.1964A>G (p.Glu655Gly) c.746A>G (p.Glu249Gly) c.2018A>G (p.Glu673Gly) c.920A>G (p.Glu307Gly) n.792A>G n.6205A>G c.2276A>G (p.Glu759Gly) c.2183A>G (p.Glu728Gly) c.2102A>G (p.Glu701Gly) c.2078A>G (p.Glu693Gly) c.1985A>G (p.Glu662Gly) c.1211A>G (p.Glu404Gly) c.1124A>G (p.Glu375Gly) c.1037A>G (p.Glu346Gly) c.771+4355A>G (n.771+4355A>G) n.844A>G | |
| 17 | g.46018633A>T | CA399983646 | MAPT | c.926A>T (p.Glu309Val) c.839A>T (p.Glu280Val) c.1013A>T (p.Glu338Val) n.784A>T n.239A>T n.197A>T n.431A>T c.2189A>T (p.Glu730Val) c.1898A>T (p.Glu633Val) c.833A>T (p.Glu278Val) c.962A>T (p.Glu321Val) c.1964A>T (p.Glu655Val) c.746A>T (p.Glu249Val) c.2018A>T (p.Glu673Val) c.920A>T (p.Glu307Val) n.792A>T n.6205A>T c.2276A>T (p.Glu759Val) c.2183A>T (p.Glu728Val) c.2102A>T (p.Glu701Val) c.2078A>T (p.Glu693Val) c.1985A>T (p.Glu662Val) c.1211A>T (p.Glu404Val) c.1124A>T (p.Glu375Val) c.1037A>T (p.Glu346Val) c.771+4355A>T (n.771+4355A>T) n.844A>T | |
| 17 | g.46018634A>C | CA399983647 | MAPT | c.927A>C (p.Glu309Asp) c.840A>C (p.Glu280Asp) c.1014A>C (p.Glu338Asp) n.785A>C n.240A>C n.198A>C n.432A>C c.2190A>C (p.Glu730Asp) c.1899A>C (p.Glu633Asp) c.834A>C (p.Glu278Asp) c.963A>C (p.Glu321Asp) c.1965A>C (p.Glu655Asp) c.747A>C (p.Glu249Asp) c.2019A>C (p.Glu673Asp) c.921A>C (p.Glu307Asp) n.793A>C n.6206A>C c.2277A>C (p.Glu759Asp) c.2184A>C (p.Glu728Asp) c.2103A>C (p.Glu701Asp) c.2079A>C (p.Glu693Asp) c.1986A>C (p.Glu662Asp) c.1212A>C (p.Glu404Asp) c.1125A>C (p.Glu375Asp) c.1038A>C (p.Glu346Asp) c.771+4356A>C (n.771+4356A>C) n.845A>C | |
| 17 | g.46018634A>G | CA500371235 | MAPT | c.927A>G (p.Glu309=) c.840A>G (p.Glu280=) c.1014A>G (p.Glu338=) n.785A>G n.240A>G n.198A>G n.432A>G c.2190A>G (p.Glu730=) c.1899A>G (p.Glu633=) c.834A>G (p.Glu278=) c.963A>G (p.Glu321=) c.1965A>G (p.Glu655=) c.747A>G (p.Glu249=) c.2019A>G (p.Glu673=) c.921A>G (p.Glu307=) n.793A>G n.6206A>G c.2277A>G (p.Glu759=) c.2184A>G (p.Glu728=) c.2103A>G (p.Glu701=) c.2079A>G (p.Glu693=) c.1986A>G (p.Glu662=) c.1212A>G (p.Glu404=) c.1125A>G (p.Glu375=) c.1038A>G (p.Glu346=) c.771+4356A>G (n.771+4356A>G) n.845A>G | |
| 17 | g.46018634A>T | CA399983648 | MAPT | c.927A>T (p.Glu309Asp) c.840A>T (p.Glu280Asp) c.1014A>T (p.Glu338Asp) n.785A>T n.240A>T n.198A>T n.432A>T c.2190A>T (p.Glu730Asp) c.1899A>T (p.Glu633Asp) c.834A>T (p.Glu278Asp) c.963A>T (p.Glu321Asp) c.1965A>T (p.Glu655Asp) c.747A>T (p.Glu249Asp) c.2019A>T (p.Glu673Asp) c.921A>T (p.Glu307Asp) n.793A>T n.6206A>T c.2277A>T (p.Glu759Asp) c.2184A>T (p.Glu728Asp) c.2103A>T (p.Glu701Asp) c.2079A>T (p.Glu693Asp) c.1986A>T (p.Glu662Asp) c.1212A>T (p.Glu404Asp) c.1125A>T (p.Glu375Asp) c.1038A>T (p.Glu346Asp) c.771+4356A>T (n.771+4356A>T) n.845A>T | |
| 17 | g.46018635G>A | CA399983649 | MAPT | c.928G>A (p.Val310Ile) c.841G>A (p.Val281Ile) c.1015G>A (p.Val339Ile) n.786G>A n.241G>A n.199G>A n.433G>A c.2191G>A (p.Val731Ile) c.1900G>A (p.Val634Ile) c.835G>A (p.Val279Ile) c.964G>A (p.Val322Ile) c.1966G>A (p.Val656Ile) c.748G>A (p.Val250Ile) c.2020G>A (p.Val674Ile) c.922G>A (p.Val308Ile) n.794G>A n.6207G>A c.2278G>A (p.Val760Ile) c.2185G>A (p.Val729Ile) c.2104G>A (p.Val702Ile) c.2080G>A (p.Val694Ile) c.1987G>A (p.Val663Ile) c.1213G>A (p.Val405Ile) c.1126G>A (p.Val376Ile) c.1039G>A (p.Val347Ile) c.771+4357G>A (n.771+4357G>A) n.846G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.46018635G>C | CA399983650 | MAPT | c.928G>C (p.Val310Leu) c.841G>C (p.Val281Leu) c.1015G>C (p.Val339Leu) n.786G>C n.241G>C n.199G>C n.433G>C c.2191G>C (p.Val731Leu) c.1900G>C (p.Val634Leu) c.835G>C (p.Val279Leu) c.964G>C (p.Val322Leu) c.1966G>C (p.Val656Leu) c.748G>C (p.Val250Leu) c.2020G>C (p.Val674Leu) c.922G>C (p.Val308Leu) n.794G>C n.6207G>C c.2278G>C (p.Val760Leu) c.2185G>C (p.Val729Leu) c.2104G>C (p.Val702Leu) c.2080G>C (p.Val694Leu) c.1987G>C (p.Val663Leu) c.1213G>C (p.Val405Leu) c.1126G>C (p.Val376Leu) c.1039G>C (p.Val347Leu) c.771+4357G>C (n.771+4357G>C) n.846G>C | |
| 17 | g.46018635G= | CA2262104728 | MAPT | c.928G= (p.Val310=) c.841G= (p.Val281=) c.1015G= (p.Val339=) n.786G= n.241G= n.199G= n.433G= c.2191G= (p.Val731=) c.1900G= (p.Val634=) c.835G= (p.Val279=) c.964G= (p.Val322=) c.1966G= (p.Val656=) c.748G= (p.Val250=) c.2020G= (p.Val674=) c.922G= (p.Val308=) n.794G= n.6207G= c.2278G= (p.Val760=) c.2185G= (p.Val729=) c.2104G= (p.Val702=) c.2080G= (p.Val694=) c.1987G= (p.Val663=) c.1213G= (p.Val405=) c.1126G= (p.Val376=) c.1039G= (p.Val347=) c.771+4357G= (n.771+4357G=) n.846G= | |
| 17 | g.46018635G>T | CA399983651 | MAPT | c.928G>T (p.Val310Leu) c.841G>T (p.Val281Leu) c.1015G>T (p.Val339Leu) n.786G>T n.241G>T n.199G>T n.433G>T c.2191G>T (p.Val731Leu) c.1900G>T (p.Val634Leu) c.835G>T (p.Val279Leu) c.964G>T (p.Val322Leu) c.1966G>T (p.Val656Leu) c.748G>T (p.Val250Leu) c.2020G>T (p.Val674Leu) c.922G>T (p.Val308Leu) n.794G>T n.6207G>T c.2278G>T (p.Val760Leu) c.2185G>T (p.Val729Leu) c.2104G>T (p.Val702Leu) c.2080G>T (p.Val694Leu) c.1987G>T (p.Val663Leu) c.1213G>T (p.Val405Leu) c.1126G>T (p.Val376Leu) c.1039G>T (p.Val347Leu) c.771+4357G>T (n.771+4357G>T) n.846G>T | |
| 17 | g.46018636T>A | CA399983653 | MAPT | c.929T>A (p.Val310Glu) c.842T>A (p.Val281Glu) c.1016T>A (p.Val339Glu) n.787T>A n.242T>A n.200T>A n.434T>A c.2192T>A (p.Val731Glu) c.1901T>A (p.Val634Glu) c.836T>A (p.Val279Glu) c.965T>A (p.Val322Glu) c.1967T>A (p.Val656Glu) c.749T>A (p.Val250Glu) c.2021T>A (p.Val674Glu) c.923T>A (p.Val308Glu) n.795T>A n.6208T>A c.2279T>A (p.Val760Glu) c.2186T>A (p.Val729Glu) c.2105T>A (p.Val702Glu) c.2081T>A (p.Val694Glu) c.1988T>A (p.Val663Glu) c.1214T>A (p.Val405Glu) c.1127T>A (p.Val376Glu) c.1040T>A (p.Val347Glu) c.771+4358T>A (n.771+4358T>A) n.847T>A | |
| 17 | g.46018636T>C | CA399983654 | MAPT | c.929T>C (p.Val310Ala) c.842T>C (p.Val281Ala) c.1016T>C (p.Val339Ala) n.787T>C n.242T>C n.200T>C n.434T>C c.2192T>C (p.Val731Ala) c.1901T>C (p.Val634Ala) c.836T>C (p.Val279Ala) c.965T>C (p.Val322Ala) c.1967T>C (p.Val656Ala) c.749T>C (p.Val250Ala) c.2021T>C (p.Val674Ala) c.923T>C (p.Val308Ala) n.795T>C n.6208T>C c.2279T>C (p.Val760Ala) c.2186T>C (p.Val729Ala) c.2105T>C (p.Val702Ala) c.2081T>C (p.Val694Ala) c.1988T>C (p.Val663Ala) c.1214T>C (p.Val405Ala) c.1127T>C (p.Val376Ala) c.1040T>C (p.Val347Ala) c.771+4358T>C (n.771+4358T>C) n.847T>C | |
| 17 | g.46018636T>G | CA399983652 | MAPT | c.929T>G (p.Val310Gly) c.842T>G (p.Val281Gly) c.1016T>G (p.Val339Gly) n.787T>G n.242T>G n.200T>G n.434T>G c.2192T>G (p.Val731Gly) c.1901T>G (p.Val634Gly) c.836T>G (p.Val279Gly) c.965T>G (p.Val322Gly) c.1967T>G (p.Val656Gly) c.749T>G (p.Val250Gly) c.2021T>G (p.Val674Gly) c.923T>G (p.Val308Gly) n.795T>G n.6208T>G c.2279T>G (p.Val760Gly) c.2186T>G (p.Val729Gly) c.2105T>G (p.Val702Gly) c.2081T>G (p.Val694Gly) c.1988T>G (p.Val663Gly) c.1214T>G (p.Val405Gly) c.1127T>G (p.Val376Gly) c.1040T>G (p.Val347Gly) c.771+4358T>G (n.771+4358T>G) n.847T>G | |
| 17 | g.46018637A= | CA2262104729 | MAPT | c.930A= (p.Val310=) c.843A= (p.Val281=) c.1017A= (p.Val339=) n.788A= n.243A= n.201A= n.435A= c.2193A= (p.Val731=) c.1902A= (p.Val634=) c.837A= (p.Val279=) c.966A= (p.Val322=) c.1968A= (p.Val656=) c.750A= (p.Val250=) c.2022A= (p.Val674=) c.924A= (p.Val308=) n.796A= n.6209A= c.2280A= (p.Val760=) c.2187A= (p.Val729=) c.2106A= (p.Val702=) c.2082A= (p.Val694=) c.1989A= (p.Val663=) c.1215A= (p.Val405=) c.1128A= (p.Val376=) c.1041A= (p.Val347=) c.771+4359A= (n.771+4359A=) n.848A= | |
| 17 | g.46018637A>C | CA291114675 | MAPT | c.930A>C (p.Val310=) c.843A>C (p.Val281=) c.1017A>C (p.Val339=) n.788A>C n.243A>C n.201A>C n.435A>C c.2193A>C (p.Val731=) c.1902A>C (p.Val634=) c.837A>C (p.Val279=) c.966A>C (p.Val322=) c.1968A>C (p.Val656=) c.750A>C (p.Val250=) c.2022A>C (p.Val674=) c.924A>C (p.Val308=) n.796A>C n.6209A>C c.2280A>C (p.Val760=) c.2187A>C (p.Val729=) c.2106A>C (p.Val702=) c.2082A>C (p.Val694=) c.1989A>C (p.Val663=) c.1215A>C (p.Val405=) c.1128A>C (p.Val376=) c.1041A>C (p.Val347=) c.771+4359A>C (n.771+4359A>C) n.848A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.46018637A>G | CA500371236 | MAPT | c.930A>G (p.Val310=) c.843A>G (p.Val281=) c.1017A>G (p.Val339=) n.788A>G n.243A>G n.201A>G n.435A>G c.2193A>G (p.Val731=) c.1902A>G (p.Val634=) c.837A>G (p.Val279=) c.966A>G (p.Val322=) c.1968A>G (p.Val656=) c.750A>G (p.Val250=) c.2022A>G (p.Val674=) c.924A>G (p.Val308=) n.796A>G n.6209A>G c.2280A>G (p.Val760=) c.2187A>G (p.Val729=) c.2106A>G (p.Val702=) c.2082A>G (p.Val694=) c.1989A>G (p.Val663=) c.1215A>G (p.Val405=) c.1128A>G (p.Val376=) c.1041A>G (p.Val347=) c.771+4359A>G (n.771+4359A>G) n.848A>G | gnomAD v4 |
| 17 | g.46018637A>T | CA500371237 | MAPT | c.930A>T (p.Val310=) c.843A>T (p.Val281=) c.1017A>T (p.Val339=) n.788A>T n.243A>T n.201A>T n.435A>T c.2193A>T (p.Val731=) c.1902A>T (p.Val634=) c.837A>T (p.Val279=) c.966A>T (p.Val322=) c.1968A>T (p.Val656=) c.750A>T (p.Val250=) c.2022A>T (p.Val674=) c.924A>T (p.Val308=) n.796A>T n.6209A>T c.2280A>T (p.Val760=) c.2187A>T (p.Val729=) c.2106A>T (p.Val702=) c.2082A>T (p.Val694=) c.1989A>T (p.Val663=) c.1215A>T (p.Val405=) c.1128A>T (p.Val376=) c.1041A>T (p.Val347=) c.771+4359A>T (n.771+4359A>T) n.848A>T | |
| 17 | g.46018638A>C | CA399983655 | MAPT | c.931A>C (p.Lys311Gln) c.844A>C (p.Lys282Gln) c.1018A>C (p.Lys340Gln) n.789A>C n.244A>C n.202A>C n.436A>C c.2194A>C (p.Lys732Gln) c.1903A>C (p.Lys635Gln) c.838A>C (p.Lys280Gln) c.967A>C (p.Lys323Gln) c.1969A>C (p.Lys657Gln) c.751A>C (p.Lys251Gln) c.2023A>C (p.Lys675Gln) c.925A>C (p.Lys309Gln) n.797A>C n.6210A>C c.2281A>C (p.Lys761Gln) c.2188A>C (p.Lys730Gln) c.2107A>C (p.Lys703Gln) c.2083A>C (p.Lys695Gln) c.1990A>C (p.Lys664Gln) c.1216A>C (p.Lys406Gln) c.1129A>C (p.Lys377Gln) c.1042A>C (p.Lys348Gln) c.771+4360A>C (n.771+4360A>C) n.849A>C | |
| 17 | g.46018638A>G | CA399983656 | MAPT | c.931A>G (p.Lys311Glu) c.844A>G (p.Lys282Glu) c.1018A>G (p.Lys340Glu) n.789A>G n.244A>G n.202A>G n.436A>G c.2194A>G (p.Lys732Glu) c.1903A>G (p.Lys635Glu) c.838A>G (p.Lys280Glu) c.967A>G (p.Lys323Glu) c.1969A>G (p.Lys657Glu) c.751A>G (p.Lys251Glu) c.2023A>G (p.Lys675Glu) c.925A>G (p.Lys309Glu) n.797A>G n.6210A>G c.2281A>G (p.Lys761Glu) c.2188A>G (p.Lys730Glu) c.2107A>G (p.Lys703Glu) c.2083A>G (p.Lys695Glu) c.1990A>G (p.Lys664Glu) c.1216A>G (p.Lys406Glu) c.1129A>G (p.Lys377Glu) c.1042A>G (p.Lys348Glu) c.771+4360A>G (n.771+4360A>G) n.849A>G | |
| 17 | g.46018638A>T | CA399983657 | MAPT | c.931A>T (p.Lys311Ter) c.844A>T (p.Lys282Ter) c.1018A>T (p.Lys340Ter) n.789A>T n.244A>T n.202A>T n.436A>T c.2194A>T (p.Lys732Ter) c.1903A>T (p.Lys635Ter) c.838A>T (p.Lys280Ter) c.967A>T (p.Lys323Ter) c.1969A>T (p.Lys657Ter) c.751A>T (p.Lys251Ter) c.2023A>T (p.Lys675Ter) c.925A>T (p.Lys309Ter) n.797A>T n.6210A>T c.2281A>T (p.Lys761Ter) c.2188A>T (p.Lys730Ter) c.2107A>T (p.Lys703Ter) c.2083A>T (p.Lys695Ter) c.1990A>T (p.Lys664Ter) c.1216A>T (p.Lys406Ter) c.1129A>T (p.Lys377Ter) c.1042A>T (p.Lys348Ter) c.771+4360A>T (n.771+4360A>T) n.849A>T | |
| 17 | g.46018639A>C | CA399983658 | MAPT | c.932A>C (p.Lys311Thr) c.845A>C (p.Lys282Thr) c.1019A>C (p.Lys340Thr) n.790A>C n.245A>C n.203A>C n.437A>C c.2195A>C (p.Lys732Thr) c.1904A>C (p.Lys635Thr) c.839A>C (p.Lys280Thr) c.968A>C (p.Lys323Thr) c.1970A>C (p.Lys657Thr) c.752A>C (p.Lys251Thr) c.2024A>C (p.Lys675Thr) c.926A>C (p.Lys309Thr) n.798A>C n.6211A>C c.2282A>C (p.Lys761Thr) c.2189A>C (p.Lys730Thr) c.2108A>C (p.Lys703Thr) c.2084A>C (p.Lys695Thr) c.1991A>C (p.Lys664Thr) c.1217A>C (p.Lys406Thr) c.1130A>C (p.Lys377Thr) c.1043A>C (p.Lys348Thr) c.771+4361A>C (n.771+4361A>C) n.850A>C | gnomAD v4 |
| 17 | g.46018639A>G | CA399983659 | MAPT | c.932A>G (p.Lys311Arg) c.845A>G (p.Lys282Arg) c.1019A>G (p.Lys340Arg) n.790A>G n.245A>G n.203A>G n.437A>G c.2195A>G (p.Lys732Arg) c.1904A>G (p.Lys635Arg) c.839A>G (p.Lys280Arg) c.968A>G (p.Lys323Arg) c.1970A>G (p.Lys657Arg) c.752A>G (p.Lys251Arg) c.2024A>G (p.Lys675Arg) c.926A>G (p.Lys309Arg) n.798A>G n.6211A>G c.2282A>G (p.Lys761Arg) c.2189A>G (p.Lys730Arg) c.2108A>G (p.Lys703Arg) c.2084A>G (p.Lys695Arg) c.1991A>G (p.Lys664Arg) c.1217A>G (p.Lys406Arg) c.1130A>G (p.Lys377Arg) c.1043A>G (p.Lys348Arg) c.771+4361A>G (n.771+4361A>G) n.850A>G | |
| 17 | g.46018639A>T | CA399983660 | MAPT | c.932A>T (p.Lys311Ile) c.845A>T (p.Lys282Ile) c.1019A>T (p.Lys340Ile) n.790A>T n.245A>T n.203A>T n.437A>T c.2195A>T (p.Lys732Ile) c.1904A>T (p.Lys635Ile) c.839A>T (p.Lys280Ile) c.968A>T (p.Lys323Ile) c.1970A>T (p.Lys657Ile) c.752A>T (p.Lys251Ile) c.2024A>T (p.Lys675Ile) c.926A>T (p.Lys309Ile) n.798A>T n.6211A>T c.2282A>T (p.Lys761Ile) c.2189A>T (p.Lys730Ile) c.2108A>T (p.Lys703Ile) c.2084A>T (p.Lys695Ile) c.1991A>T (p.Lys664Ile) c.1217A>T (p.Lys406Ile) c.1130A>T (p.Lys377Ile) c.1043A>T (p.Lys348Ile) c.771+4361A>T (n.771+4361A>T) n.850A>T | |
| 17 | g.46018640A>C | CA399983661 | MAPT | c.933A>C (p.Lys311Asn) c.846A>C (p.Lys282Asn) c.1020A>C (p.Lys340Asn) n.791A>C n.246A>C n.204A>C n.438A>C c.2196A>C (p.Lys732Asn) c.1905A>C (p.Lys635Asn) c.840A>C (p.Lys280Asn) c.969A>C (p.Lys323Asn) c.1971A>C (p.Lys657Asn) c.753A>C (p.Lys251Asn) c.2025A>C (p.Lys675Asn) c.927A>C (p.Lys309Asn) n.799A>C n.6212A>C c.2283A>C (p.Lys761Asn) c.2190A>C (p.Lys730Asn) c.2109A>C (p.Lys703Asn) c.2085A>C (p.Lys695Asn) c.1992A>C (p.Lys664Asn) c.1218A>C (p.Lys406Asn) c.1131A>C (p.Lys377Asn) c.1044A>C (p.Lys348Asn) c.771+4362A>C (n.771+4362A>C) n.851A>C | |
| 17 | g.46018640A>G | CA500371238 | MAPT | c.933A>G (p.Lys311=) c.846A>G (p.Lys282=) c.1020A>G (p.Lys340=) n.791A>G n.246A>G n.204A>G n.438A>G c.2196A>G (p.Lys732=) c.1905A>G (p.Lys635=) c.840A>G (p.Lys280=) c.969A>G (p.Lys323=) c.1971A>G (p.Lys657=) c.753A>G (p.Lys251=) c.2025A>G (p.Lys675=) c.927A>G (p.Lys309=) n.799A>G n.6212A>G c.2283A>G (p.Lys761=) c.2190A>G (p.Lys730=) c.2109A>G (p.Lys703=) c.2085A>G (p.Lys695=) c.1992A>G (p.Lys664=) c.1218A>G (p.Lys406=) c.1131A>G (p.Lys377=) c.1044A>G (p.Lys348=) c.771+4362A>G (n.771+4362A>G) n.851A>G | |
| 17 | g.46018640A>T | CA399983662 | MAPT | c.933A>T (p.Lys311Asn) c.846A>T (p.Lys282Asn) c.1020A>T (p.Lys340Asn) n.791A>T n.246A>T n.204A>T n.438A>T c.2196A>T (p.Lys732Asn) c.1905A>T (p.Lys635Asn) c.840A>T (p.Lys280Asn) c.969A>T (p.Lys323Asn) c.1971A>T (p.Lys657Asn) c.753A>T (p.Lys251Asn) c.2025A>T (p.Lys675Asn) c.927A>T (p.Lys309Asn) n.799A>T n.6212A>T c.2283A>T (p.Lys761Asn) c.2190A>T (p.Lys730Asn) c.2109A>T (p.Lys703Asn) c.2085A>T (p.Lys695Asn) c.1992A>T (p.Lys664Asn) c.1218A>T (p.Lys406Asn) c.1131A>T (p.Lys377Asn) c.1044A>T (p.Lys348Asn) c.771+4362A>T (n.771+4362A>T) n.851A>T | |
| 17 | g.46018641T>A | CA399983663 | MAPT | c.934T>A (p.Ser312Thr) c.847T>A (p.Ser283Thr) c.1021T>A (p.Ser341Thr) n.792T>A n.247T>A n.205T>A n.439T>A c.2197T>A (p.Ser733Thr) c.1906T>A (p.Ser636Thr) c.841T>A (p.Ser281Thr) c.970T>A (p.Ser324Thr) c.1972T>A (p.Ser658Thr) c.754T>A (p.Ser252Thr) c.2026T>A (p.Ser676Thr) c.928T>A (p.Ser310Thr) n.800T>A n.6213T>A c.2284T>A (p.Ser762Thr) c.2191T>A (p.Ser731Thr) c.2110T>A (p.Ser704Thr) c.2086T>A (p.Ser696Thr) c.1993T>A (p.Ser665Thr) c.1219T>A (p.Ser407Thr) c.1132T>A (p.Ser378Thr) c.1045T>A (p.Ser349Thr) c.771+4363T>A (n.771+4363T>A) n.852T>A | |
| 17 | g.46018641T>C | CA399983664 | MAPT | c.934T>C (p.Ser312Pro) c.847T>C (p.Ser283Pro) c.1021T>C (p.Ser341Pro) n.792T>C n.247T>C n.205T>C n.439T>C c.2197T>C (p.Ser733Pro) c.1906T>C (p.Ser636Pro) c.841T>C (p.Ser281Pro) c.970T>C (p.Ser324Pro) c.1972T>C (p.Ser658Pro) c.754T>C (p.Ser252Pro) c.2026T>C (p.Ser676Pro) c.928T>C (p.Ser310Pro) n.800T>C n.6213T>C c.2284T>C (p.Ser762Pro) c.2191T>C (p.Ser731Pro) c.2110T>C (p.Ser704Pro) c.2086T>C (p.Ser696Pro) c.1993T>C (p.Ser665Pro) c.1219T>C (p.Ser407Pro) c.1132T>C (p.Ser378Pro) c.1045T>C (p.Ser349Pro) c.771+4363T>C (n.771+4363T>C) n.852T>C | |
| 17 | g.46018641T>G | CA399983665 | MAPT | c.934T>G (p.Ser312Ala) c.847T>G (p.Ser283Ala) c.1021T>G (p.Ser341Ala) n.792T>G n.247T>G n.205T>G n.439T>G c.2197T>G (p.Ser733Ala) c.1906T>G (p.Ser636Ala) c.841T>G (p.Ser281Ala) c.970T>G (p.Ser324Ala) c.1972T>G (p.Ser658Ala) c.754T>G (p.Ser252Ala) c.2026T>G (p.Ser676Ala) c.928T>G (p.Ser310Ala) n.800T>G n.6213T>G c.2284T>G (p.Ser762Ala) c.2191T>G (p.Ser731Ala) c.2110T>G (p.Ser704Ala) c.2086T>G (p.Ser696Ala) c.1993T>G (p.Ser665Ala) c.1219T>G (p.Ser407Ala) c.1132T>G (p.Ser378Ala) c.1045T>G (p.Ser349Ala) c.771+4363T>G (n.771+4363T>G) n.852T>G | |
| 17 | g.46018642C>A | CA399983666 | MAPT | c.935C>A (p.Ser312Tyr) c.848C>A (p.Ser283Tyr) c.1022C>A (p.Ser341Tyr) n.793C>A n.248C>A n.206C>A n.440C>A c.2198C>A (p.Ser733Tyr) c.1907C>A (p.Ser636Tyr) c.842C>A (p.Ser281Tyr) c.971C>A (p.Ser324Tyr) c.1973C>A (p.Ser658Tyr) c.755C>A (p.Ser252Tyr) c.2027C>A (p.Ser676Tyr) c.929C>A (p.Ser310Tyr) n.801C>A n.6214C>A c.2285C>A (p.Ser762Tyr) c.2192C>A (p.Ser731Tyr) c.2111C>A (p.Ser704Tyr) c.2087C>A (p.Ser696Tyr) c.1994C>A (p.Ser665Tyr) c.1220C>A (p.Ser407Tyr) c.1133C>A (p.Ser378Tyr) c.1046C>A (p.Ser349Tyr) c.771+4364C>A (n.771+4364C>A) n.853C>A | |
| 17 | g.46018642C>G | CA399983667 | MAPT | c.935C>G (p.Ser312Cys) c.848C>G (p.Ser283Cys) c.1022C>G (p.Ser341Cys) n.793C>G n.248C>G n.206C>G n.440C>G c.2198C>G (p.Ser733Cys) c.1907C>G (p.Ser636Cys) c.842C>G (p.Ser281Cys) c.971C>G (p.Ser324Cys) c.1973C>G (p.Ser658Cys) c.755C>G (p.Ser252Cys) c.2027C>G (p.Ser676Cys) c.929C>G (p.Ser310Cys) n.801C>G n.6214C>G c.2285C>G (p.Ser762Cys) c.2192C>G (p.Ser731Cys) c.2111C>G (p.Ser704Cys) c.2087C>G (p.Ser696Cys) c.1994C>G (p.Ser665Cys) c.1220C>G (p.Ser407Cys) c.1133C>G (p.Ser378Cys) c.1046C>G (p.Ser349Cys) c.771+4364C>G (n.771+4364C>G) n.853C>G | |
| 17 | g.46018642C>T | CA399983668 | MAPT | c.935C>T (p.Ser312Phe) c.848C>T (p.Ser283Phe) c.1022C>T (p.Ser341Phe) n.793C>T n.248C>T n.206C>T n.440C>T c.2198C>T (p.Ser733Phe) c.1907C>T (p.Ser636Phe) c.842C>T (p.Ser281Phe) c.971C>T (p.Ser324Phe) c.1973C>T (p.Ser658Phe) c.755C>T (p.Ser252Phe) c.2027C>T (p.Ser676Phe) c.929C>T (p.Ser310Phe) n.801C>T n.6214C>T c.2285C>T (p.Ser762Phe) c.2192C>T (p.Ser731Phe) c.2111C>T (p.Ser704Phe) c.2087C>T (p.Ser696Phe) c.1994C>T (p.Ser665Phe) c.1220C>T (p.Ser407Phe) c.1133C>T (p.Ser378Phe) c.1046C>T (p.Ser349Phe) c.771+4364C>T (n.771+4364C>T) n.853C>T | |
| 17 | g.46018643T>A | CA500371239 | MAPT | c.936T>A (p.Ser312=) c.849T>A (p.Ser283=) c.1023T>A (p.Ser341=) n.794T>A n.249T>A n.207T>A n.441T>A c.2199T>A (p.Ser733=) c.1908T>A (p.Ser636=) c.843T>A (p.Ser281=) c.972T>A (p.Ser324=) c.1974T>A (p.Ser658=) c.756T>A (p.Ser252=) c.2028T>A (p.Ser676=) c.930T>A (p.Ser310=) n.802T>A n.6215T>A c.2286T>A (p.Ser762=) c.2193T>A (p.Ser731=) c.2112T>A (p.Ser704=) c.2088T>A (p.Ser696=) c.1995T>A (p.Ser665=) c.1221T>A (p.Ser407=) c.1134T>A (p.Ser378=) c.1047T>A (p.Ser349=) c.771+4365T>A (n.771+4365T>A) n.854T>A | |
| 17 | g.46018643T>C | CA500371240 | MAPT | c.936T>C (p.Ser312=) c.849T>C (p.Ser283=) c.1023T>C (p.Ser341=) n.794T>C n.249T>C n.207T>C n.441T>C c.2199T>C (p.Ser733=) c.1908T>C (p.Ser636=) c.843T>C (p.Ser281=) c.972T>C (p.Ser324=) c.1974T>C (p.Ser658=) c.756T>C (p.Ser252=) c.2028T>C (p.Ser676=) c.930T>C (p.Ser310=) n.802T>C n.6215T>C c.2286T>C (p.Ser762=) c.2193T>C (p.Ser731=) c.2112T>C (p.Ser704=) c.2088T>C (p.Ser696=) c.1995T>C (p.Ser665=) c.1221T>C (p.Ser407=) c.1134T>C (p.Ser378=) c.1047T>C (p.Ser349=) c.771+4365T>C (n.771+4365T>C) n.854T>C | |
| 17 | g.46018643T>G | CA500371241 | MAPT | c.936T>G (p.Ser312=) c.849T>G (p.Ser283=) c.1023T>G (p.Ser341=) n.794T>G n.249T>G n.207T>G n.441T>G c.2199T>G (p.Ser733=) c.1908T>G (p.Ser636=) c.843T>G (p.Ser281=) c.972T>G (p.Ser324=) c.1974T>G (p.Ser658=) c.756T>G (p.Ser252=) c.2028T>G (p.Ser676=) c.930T>G (p.Ser310=) n.802T>G n.6215T>G c.2286T>G (p.Ser762=) c.2193T>G (p.Ser731=) c.2112T>G (p.Ser704=) c.2088T>G (p.Ser696=) c.1995T>G (p.Ser665=) c.1221T>G (p.Ser407=) c.1134T>G (p.Ser378=) c.1047T>G (p.Ser349=) c.771+4365T>G (n.771+4365T>G) n.854T>G | |
| 17 | g.46018644G>A | CA399983671 | MAPT | c.937G>A (p.Glu313Lys) c.850G>A (p.Glu284Lys) c.1024G>A (p.Glu342Lys) n.795G>A n.250G>A n.208G>A n.442G>A c.2200G>A (p.Glu734Lys) c.1909G>A (p.Glu637Lys) c.844G>A (p.Glu282Lys) c.973G>A (p.Glu325Lys) c.1975G>A (p.Glu659Lys) c.757G>A (p.Glu253Lys) c.2029G>A (p.Glu677Lys) c.931G>A (p.Glu311Lys) n.803G>A n.6216G>A c.2287G>A (p.Glu763Lys) c.2194G>A (p.Glu732Lys) c.2113G>A (p.Glu705Lys) c.2089G>A (p.Glu697Lys) c.1996G>A (p.Glu666Lys) c.1222G>A (p.Glu408Lys) c.1135G>A (p.Glu379Lys) c.1048G>A (p.Glu350Lys) c.771+4366G>A (n.771+4366G>A) n.855G>A | |
| 17 | g.46018644G>C | CA399983670 | MAPT | c.937G>C (p.Glu313Gln) c.850G>C (p.Glu284Gln) c.1024G>C (p.Glu342Gln) n.795G>C n.250G>C n.208G>C n.442G>C c.2200G>C (p.Glu734Gln) c.1909G>C (p.Glu637Gln) c.844G>C (p.Glu282Gln) c.973G>C (p.Glu325Gln) c.1975G>C (p.Glu659Gln) c.757G>C (p.Glu253Gln) c.2029G>C (p.Glu677Gln) c.931G>C (p.Glu311Gln) n.803G>C n.6216G>C c.2287G>C (p.Glu763Gln) c.2194G>C (p.Glu732Gln) c.2113G>C (p.Glu705Gln) c.2089G>C (p.Glu697Gln) c.1996G>C (p.Glu666Gln) c.1222G>C (p.Glu408Gln) c.1135G>C (p.Glu379Gln) c.1048G>C (p.Glu350Gln) c.771+4366G>C (n.771+4366G>C) n.855G>C |