Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.75582070C>T | CA2740855198 | HIP1 | c.542+5G>A (n.542+5G>A) c.455+5G>A (n.455+5G>A) c.440+5G>A (n.440+5G>A) c.500+5G>A (n.500+5G>A) | |
7 | g.75582073A>C | CA367726827 | HIP1 | c.542+2T>G (n.542+2T>G) c.455+2T>G (n.455+2T>G) c.440+2T>G (n.440+2T>G) c.500+2T>G (n.500+2T>G) | |
7 | g.75582073A>G | CA367726826 | HIP1 | c.542+2T>C (n.542+2T>C) c.455+2T>C (n.455+2T>C) c.440+2T>C (n.440+2T>C) c.500+2T>C (n.500+2T>C) | |
7 | g.75582073A>T | CA367726825 | HIP1 | c.542+2T>A (n.542+2T>A) c.455+2T>A (n.455+2T>A) c.440+2T>A (n.440+2T>A) c.500+2T>A (n.500+2T>A) | |
7 | g.75582073dup | CA2683363373 | HIP1 | c.542+2dup (n.542+2dup) c.455+2dup (n.455+2dup) c.440+2dup (n.440+2dup) c.500+2dup (n.500+2dup) | gnomAD v4 |
7 | g.75582074C>A | CA367726828 | HIP1 | c.542+1G>T (n.542+1G>T) c.455+1G>T (n.455+1G>T) c.440+1G>T (n.440+1G>T) c.500+1G>T (n.500+1G>T) | gnomAD v4 |
7 | g.75582074C= | CA1717985574 | HIP1 | c.542+1G= (n.542+1G=) c.455+1G= (n.455+1G=) c.440+1G= (n.440+1G=) c.500+1G= (n.500+1G=) | |
7 | g.75582074C>G | CA367726830 | HIP1 | c.542+1G>C (n.542+1G>C) c.455+1G>C (n.455+1G>C) c.440+1G>C (n.440+1G>C) c.500+1G>C (n.500+1G>C) | |
7 | g.75582074C>T | CA367726831 | HIP1 | c.542+1G>A (n.542+1G>A) c.455+1G>A (n.455+1G>A) c.440+1G>A (n.440+1G>A) c.500+1G>A (n.500+1G>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.75582075A= | CA1717985576 | HIP1 | c.542T= (p.Phe181=) c.455T= (p.Phe152=) c.440T= (p.Phe147=) c.500T= (p.Phe167=) | |
7 | g.75582075A>C | CA367726833 | HIP1 | c.542T>G (p.Phe181Cys) c.455T>G (p.Phe152Cys) c.440T>G (p.Phe147Cys) c.500T>G (p.Phe167Cys) | |
7 | g.75582075A>G | CA367726834 | HIP1 | c.542T>C (p.Phe181Ser) c.455T>C (p.Phe152Ser) c.440T>C (p.Phe147Ser) c.500T>C (p.Phe167Ser) | dbSNP |
7 | g.75582075A>T | CA367726836 | HIP1 | c.542T>A (p.Phe181Tyr) c.455T>A (p.Phe152Tyr) c.440T>A (p.Phe147Tyr) c.500T>A (p.Phe167Tyr) | |
7 | g.75582076A>C | CA367726839 | HIP1 | c.541T>G (p.Phe181Val) c.454T>G (p.Phe152Val) c.439T>G (p.Phe147Val) c.499T>G (p.Phe167Val) | |
7 | g.75582076A>G | CA367726841 | HIP1 | c.541T>C (p.Phe181Leu) c.454T>C (p.Phe152Leu) c.439T>C (p.Phe147Leu) c.499T>C (p.Phe167Leu) | |
7 | g.75582076A>T | CA367726840 | HIP1 | c.541T>A (p.Phe181Ile) c.454T>A (p.Phe152Ile) c.439T>A (p.Phe147Ile) c.499T>A (p.Phe167Ile) | |
7 | g.75582077G>A | CA4302596 | HIP1 | c.540C>T (p.Asn180=) c.453C>T (p.Asn151=) c.438C>T (p.Asn146=) c.498C>T (p.Asn166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.75582077G>C | CA367726843 | HIP1 | c.540C>G (p.Asn180Lys) c.453C>G (p.Asn151Lys) c.438C>G (p.Asn146Lys) c.498C>G (p.Asn166Lys) | |
7 | g.75582077G= | CA1717985584 | HIP1 | c.540C= (p.Asn180=) c.453C= (p.Asn151=) c.438C= (p.Asn146=) c.498C= (p.Asn166=) | |
7 | g.75582077G>T | CA367726846 | HIP1 | c.540C>A (p.Asn180Lys) c.453C>A (p.Asn151Lys) c.438C>A (p.Asn146Lys) c.498C>A (p.Asn166Lys) | |
7 | g.75582078T>A | CA367726848 | HIP1 | c.539A>T (p.Asn180Ile) c.452A>T (p.Asn151Ile) c.437A>T (p.Asn146Ile) c.497A>T (p.Asn166Ile) | |
7 | g.75582078T>C | CA367726850 | HIP1 | c.539A>G (p.Asn180Ser) c.452A>G (p.Asn151Ser) c.437A>G (p.Asn146Ser) c.497A>G (p.Asn166Ser) | |
7 | g.75582078T>G | CA367726852 | HIP1 | c.539A>C (p.Asn180Thr) c.452A>C (p.Asn151Thr) c.437A>C (p.Asn146Thr) c.497A>C (p.Asn166Thr) | |
7 | g.75582079T>A | CA367726856 | HIP1 | c.538A>T (p.Asn180Tyr) c.451A>T (p.Asn151Tyr) c.436A>T (p.Asn146Tyr) c.496A>T (p.Asn166Tyr) | |
7 | g.75582079T>C | CA367726862 | HIP1 | c.538A>G (p.Asn180Asp) c.451A>G (p.Asn151Asp) c.436A>G (p.Asn146Asp) c.496A>G (p.Asn166Asp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.75582079T>G | CA367726864 | HIP1 | c.538A>C (p.Asn180His) c.451A>C (p.Asn151His) c.436A>C (p.Asn146His) c.496A>C (p.Asn166His) | |
7 | g.75582079T= | CA1717985592 | HIP1 | c.538A= (p.Asn180=) c.451A= (p.Asn151=) c.436A= (p.Asn146=) c.496A= (p.Asn166=) | |
7 | g.75582080G>A | CA455709656 | HIP1 | c.537C>T (p.Asn179=) c.450C>T (p.Asn150=) c.435C>T (p.Asn145=) c.495C>T (p.Asn165=) | |
7 | g.75582080G>C | CA367726869 | HIP1 | c.537C>G (p.Asn179Lys) c.450C>G (p.Asn150Lys) c.435C>G (p.Asn145Lys) c.495C>G (p.Asn165Lys) | |
7 | g.75582080G>T | CA367726891 | HIP1 | c.537C>A (p.Asn179Lys) c.450C>A (p.Asn150Lys) c.435C>A (p.Asn145Lys) c.495C>A (p.Asn165Lys) | |
7 | g.75582081T>A | CA367726918 | HIP1 | c.536A>T (p.Asn179Ile) c.449A>T (p.Asn150Ile) c.434A>T (p.Asn145Ile) c.494A>T (p.Asn165Ile) | |
7 | g.75582081T>C | CA367726920 | HIP1 | c.536A>G (p.Asn179Ser) c.449A>G (p.Asn150Ser) c.434A>G (p.Asn145Ser) c.494A>G (p.Asn165Ser) | |
7 | g.75582081T>G | CA367726919 | HIP1 | c.536A>C (p.Asn179Thr) c.449A>C (p.Asn150Thr) c.434A>C (p.Asn145Thr) c.494A>C (p.Asn165Thr) | |
7 | g.75582082T>A | CA367726922 | HIP1 | c.535A>T (p.Asn179Tyr) c.448A>T (p.Asn150Tyr) c.433A>T (p.Asn145Tyr) c.493A>T (p.Asn165Tyr) | |
7 | g.75582082T>C | CA367726925 | HIP1 | c.535A>G (p.Asn179Asp) c.448A>G (p.Asn150Asp) c.433A>G (p.Asn145Asp) c.493A>G (p.Asn165Asp) | |
7 | g.75582082T>G | CA367726927 | HIP1 | c.535A>C (p.Asn179His) c.448A>C (p.Asn150His) c.433A>C (p.Asn145His) c.493A>C (p.Asn165His) | |
7 | g.75582083C>A | CA455709683 | HIP1 | c.534G>T (p.Val178=) c.447G>T (p.Val149=) c.432G>T (p.Val144=) c.492G>T (p.Val164=) | |
7 | g.75582083C>G | CA455709686 | HIP1 | c.534G>C (p.Val178=) c.447G>C (p.Val149=) c.432G>C (p.Val144=) c.492G>C (p.Val164=) | |
7 | g.75582083C>T | CA455709689 | HIP1 | c.534G>A (p.Val178=) c.447G>A (p.Val149=) c.432G>A (p.Val144=) c.492G>A (p.Val164=) | |
7 | g.75582084A>C | CA367726930 | HIP1 | c.533T>G (p.Val178Gly) c.446T>G (p.Val149Gly) c.431T>G (p.Val144Gly) c.491T>G (p.Val164Gly) | |
7 | g.75582084A>G | CA367726931 | HIP1 | c.533T>C (p.Val178Ala) c.446T>C (p.Val149Ala) c.431T>C (p.Val144Ala) c.491T>C (p.Val164Ala) | |
7 | g.75582084A>T | CA367726932 | HIP1 | c.533T>A (p.Val178Glu) c.446T>A (p.Val149Glu) c.431T>A (p.Val144Glu) c.491T>A (p.Val164Glu) | |
7 | g.75582085C>A | CA4302597 | HIP1 | c.532G>T (p.Val178Leu) c.445G>T (p.Val149Leu) c.430G>T (p.Val144Leu) c.490G>T (p.Val164Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.75582085C= | CA1717985595 | HIP1 | c.532G= (p.Val178=) c.445G= (p.Val149=) c.430G= (p.Val144=) c.490G= (p.Val164=) | |
7 | g.75582085C>G | CA367726937 | HIP1 | c.532G>C (p.Val178Leu) c.445G>C (p.Val149Leu) c.430G>C (p.Val144Leu) c.490G>C (p.Val164Leu) | |
7 | g.75582085C>T | CA4302598 | HIP1 | c.532G>A (p.Val178Met) c.445G>A (p.Val149Met) c.430G>A (p.Val144Met) c.490G>A (p.Val164Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.75582086G>A | CA4302599 | HIP1 | c.531C>T (p.Asp177=) c.444C>T (p.Asp148=) c.429C>T (p.Asp143=) c.489C>T (p.Asp163=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.75582086G>C | CA367726944 | HIP1 | c.531C>G (p.Asp177Glu) c.444C>G (p.Asp148Glu) c.429C>G (p.Asp143Glu) c.489C>G (p.Asp163Glu) | |
7 | g.75582086G= | CA1717985597 | HIP1 | c.531C= (p.Asp177=) c.444C= (p.Asp148=) c.429C= (p.Asp143=) c.489C= (p.Asp163=) | |
7 | g.75582086G>T | CA367726947 | HIP1 | c.531C>A (p.Asp177Glu) c.444C>A (p.Asp148Glu) c.429C>A (p.Asp143Glu) c.489C>A (p.Asp163Glu) | |
7 | g.75582087T>A | CA367726954 | HIP1 | c.530A>T (p.Asp177Val) c.443A>T (p.Asp148Val) c.428A>T (p.Asp143Val) c.488A>T (p.Asp163Val) | |
7 | g.75582087T>C | CA367726949 | HIP1 | c.530A>G (p.Asp177Gly) c.443A>G (p.Asp148Gly) c.428A>G (p.Asp143Gly) c.488A>G (p.Asp163Gly) | |
7 | g.75582087T>G | CA367726952 | HIP1 | c.530A>C (p.Asp177Ala) c.443A>C (p.Asp148Ala) c.428A>C (p.Asp143Ala) c.488A>C (p.Asp163Ala) | |
7 | g.75582088C>A | CA367726956 | HIP1 | c.529G>T (p.Asp177Tyr) c.442G>T (p.Asp148Tyr) c.427G>T (p.Asp143Tyr) c.487G>T (p.Asp163Tyr) | |
7 | g.75582088C>G | CA367726958 | HIP1 | c.529G>C (p.Asp177His) c.442G>C (p.Asp148His) c.427G>C (p.Asp143His) c.487G>C (p.Asp163His) | |
7 | g.75582088C>T | CA367726965 | HIP1 | c.529G>A (p.Asp177Asn) c.442G>A (p.Asp148Asn) c.427G>A (p.Asp143Asn) c.487G>A (p.Asp163Asn) | |
7 | g.75582089A>C | CA367726968 | HIP1 | c.528T>G (p.Ser176Arg) c.441T>G (p.Ser147Arg) c.426T>G (p.Ser142Arg) c.486T>G (p.Ser162Arg) | |
7 | g.75582089A>G | CA455709779 | HIP1 | c.528T>C (p.Ser176=) c.441T>C (p.Ser147=) c.426T>C (p.Ser142=) c.486T>C (p.Ser162=) | |
7 | g.75582089A>T | CA367726976 | HIP1 | c.528T>A (p.Ser176Arg) c.441T>A (p.Ser147Arg) c.426T>A (p.Ser142Arg) c.486T>A (p.Ser162Arg) | |
7 | g.75582090C>A | CA4302600 | HIP1 | c.527G>T (p.Ser176Ile) c.440G>T (p.Ser147Ile) c.425G>T (p.Ser142Ile) c.485G>T (p.Ser162Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.75582090C= | CA1717985600 | HIP1 | c.527G= (p.Ser176=) c.440G= (p.Ser147=) c.425G= (p.Ser142=) c.485G= (p.Ser162=) | |
7 | g.75582090C>G | CA367726986 | HIP1 | c.527G>C (p.Ser176Thr) c.440G>C (p.Ser147Thr) c.425G>C (p.Ser142Thr) c.485G>C (p.Ser162Thr) | |
7 | g.75582090C>T | CA367726987 | HIP1 | c.527G>A (p.Ser176Asn) c.440G>A (p.Ser147Asn) c.425G>A (p.Ser142Asn) c.485G>A (p.Ser162Asn) | |
7 | g.75582091T>A | CA367726989 | HIP1 | c.526A>T (p.Ser176Cys) c.439A>T (p.Ser147Cys) c.424A>T (p.Ser142Cys) c.484A>T (p.Ser162Cys) | |
7 | g.75582091T>C | CA367726993 | HIP1 | c.526A>G (p.Ser176Gly) c.439A>G (p.Ser147Gly) c.424A>G (p.Ser142Gly) c.484A>G (p.Ser162Gly) | dbSNP |
7 | g.75582091T>G | CA367726994 | HIP1 | c.526A>C (p.Ser176Arg) c.439A>C (p.Ser147Arg) c.424A>C (p.Ser142Arg) c.484A>C (p.Ser162Arg) | |
7 | g.75582091T= | CA1717985604 | HIP1 | c.526A= (p.Ser176=) c.439A= (p.Ser147=) c.424A= (p.Ser142=) c.484A= (p.Ser162=) | |
7 | g.75582092T>A | CA367727004 | HIP1 | c.525A>T (p.Glu175Asp) c.438A>T (p.Glu146Asp) c.423A>T (p.Glu141Asp) c.483A>T (p.Glu161Asp) | |
7 | g.75582092T>C | CA455709852 | HIP1 | c.525A>G (p.Glu175=) c.438A>G (p.Glu146=) c.423A>G (p.Glu141=) c.483A>G (p.Glu161=) | |
7 | g.75582092T>G | CA367726998 | HIP1 | c.525A>C (p.Glu175Asp) c.438A>C (p.Glu146Asp) c.423A>C (p.Glu141Asp) c.483A>C (p.Glu161Asp) | |
7 | g.75582093T>A | CA367727010 | HIP1 | c.524A>T (p.Glu175Val) c.437A>T (p.Glu146Val) c.422A>T (p.Glu141Val) c.482A>T (p.Glu161Val) | |
7 | g.75582093T>C | CA367727014 | HIP1 | c.524A>G (p.Glu175Gly) c.437A>G (p.Glu146Gly) c.422A>G (p.Glu141Gly) c.482A>G (p.Glu161Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.75582093T>G | CA367727022 | HIP1 | c.524A>C (p.Glu175Ala) c.437A>C (p.Glu146Ala) c.422A>C (p.Glu141Ala) c.482A>C (p.Glu161Ala) | |
7 | g.75582093T= | CA1717985607 | HIP1 | c.524A= (p.Glu175=) c.437A= (p.Glu146=) c.422A= (p.Glu141=) c.482A= (p.Glu161=) | |
7 | g.75582094C>A | CA367727033 | HIP1 | c.523G>T (p.Glu175Ter) c.436G>T (p.Glu146Ter) c.421G>T (p.Glu141Ter) c.481G>T (p.Glu161Ter) | |
7 | g.75582094C>G | CA367727038 | HIP1 | c.523G>C (p.Glu175Gln) c.436G>C (p.Glu146Gln) c.421G>C (p.Glu141Gln) c.481G>C (p.Glu161Gln) | |
7 | g.75582094C>T | CA367727041 | HIP1 | c.523G>A (p.Glu175Lys) c.436G>A (p.Glu146Lys) c.421G>A (p.Glu141Lys) c.481G>A (p.Glu161Lys) | |
7 | g.75582095T>A | CA455709895 | HIP1 | c.522A>T (p.Gly174=) c.435A>T (p.Gly145=) c.420A>T (p.Gly140=) c.480A>T (p.Gly160=) | |
7 | g.75582095T>C | CA455709899 | HIP1 | c.522A>G (p.Gly174=) c.435A>G (p.Gly145=) c.420A>G (p.Gly140=) c.480A>G (p.Gly160=) | gnomAD v4 |
7 | g.75582095T>G | CA455709902 | HIP1 | c.522A>C (p.Gly174=) c.435A>C (p.Gly145=) c.420A>C (p.Gly140=) c.480A>C (p.Gly160=) | |
7 | g.75582096C>A | CA367727046 | HIP1 | c.521G>T (p.Gly174Val) c.434G>T (p.Gly145Val) c.419G>T (p.Gly140Val) c.479G>T (p.Gly160Val) | |
7 | g.75582096C>G | CA367727052 | HIP1 | c.521G>C (p.Gly174Ala) c.434G>C (p.Gly145Ala) c.419G>C (p.Gly140Ala) c.479G>C (p.Gly160Ala) | |
7 | g.75582096C>T | CA367727056 | HIP1 | c.521G>A (p.Gly174Glu) c.434G>A (p.Gly145Glu) c.419G>A (p.Gly140Glu) c.479G>A (p.Gly160Glu) | |
7 | g.75582097C>A | CA367727057 | HIP1 | c.520G>T (p.Gly174Ter) c.433G>T (p.Gly145Ter) c.418G>T (p.Gly140Ter) c.478G>T (p.Gly160Ter) | |
7 | g.75582097C= | CA1717985609 | HIP1 | c.520G= (p.Gly174=) c.433G= (p.Gly145=) c.418G= (p.Gly140=) c.478G= (p.Gly160=) | |
7 | g.75582097C>G | CA367727060 | HIP1 | c.520G>C (p.Gly174Arg) c.433G>C (p.Gly145Arg) c.418G>C (p.Gly140Arg) c.478G>C (p.Gly160Arg) | |
7 | g.75582097C>T | CA4302601 | HIP1 | c.520G>A (p.Gly174Arg) c.433G>A (p.Gly145Arg) c.418G>A (p.Gly140Arg) c.478G>A (p.Gly160Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.75582098A= | CA1717985611 | HIP1 | c.519T= (p.Ala173=) c.432T= (p.Ala144=) c.417T= (p.Ala139=) c.477T= (p.Ala159=) | |
7 | g.75582098A>C | CA455709951 | HIP1 | c.519T>G (p.Ala173=) c.432T>G (p.Ala144=) c.417T>G (p.Ala139=) c.477T>G (p.Ala159=) | dbSNP |
7 | g.75582098A>G | CA4302602 | HIP1 | c.519T>C (p.Ala173=) c.432T>C (p.Ala144=) c.417T>C (p.Ala139=) c.477T>C (p.Ala159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.75582098A>T | CA455709958 | HIP1 | c.519T>A (p.Ala173=) c.432T>A (p.Ala144=) c.417T>A (p.Ala139=) c.477T>A (p.Ala159=) | dbSNP |
7 | g.75582099G>A | CA367727078 | HIP1 | c.518C>T (p.Ala173Val) c.431C>T (p.Ala144Val) c.416C>T (p.Ala139Val) c.476C>T (p.Ala159Val) | COSMIC |
7 | g.75582099G>C | CA367727070 | HIP1 | c.518C>G (p.Ala173Gly) c.431C>G (p.Ala144Gly) c.416C>G (p.Ala139Gly) c.476C>G (p.Ala159Gly) | |
7 | g.75582099G>T | CA367727067 | HIP1 | c.518C>A (p.Ala173Asp) c.431C>A (p.Ala144Asp) c.416C>A (p.Ala139Asp) c.476C>A (p.Ala159Asp) | |
7 | g.75582100C>A | CA367727081 | HIP1 | c.517G>T (p.Ala173Ser) c.430G>T (p.Ala144Ser) c.415G>T (p.Ala139Ser) c.475G>T (p.Ala159Ser) | |
7 | g.75582100C= | CA1717985614 | HIP1 | c.517G= (p.Ala173=) c.430G= (p.Ala144=) c.415G= (p.Ala139=) c.475G= (p.Ala159=) | |
7 | g.75582100C>G | CA367727082 | HIP1 | c.517G>C (p.Ala173Pro) c.430G>C (p.Ala144Pro) c.415G>C (p.Ala139Pro) c.475G>C (p.Ala159Pro) | |
7 | g.75582100C>T | CA367727084 | HIP1 | c.517G>A (p.Ala173Thr) c.430G>A (p.Ala144Thr) c.415G>A (p.Ala139Thr) c.475G>A (p.Ala159Thr) | dbSNP |
7 | g.75582101C>A | CA367727092 | HIP1 | c.516G>T (p.Glu172Asp) c.429G>T (p.Glu143Asp) c.414G>T (p.Glu138Asp) c.474G>T (p.Glu158Asp) | |
7 | g.75582101C>G | CA367727095 | HIP1 | c.516G>C (p.Glu172Asp) c.429G>C (p.Glu143Asp) c.414G>C (p.Glu138Asp) c.474G>C (p.Glu158Asp) | |
7 | g.75582101C>T | CA455709995 | HIP1 | c.516G>A (p.Glu172=) c.429G>A (p.Glu143=) c.414G>A (p.Glu138=) c.474G>A (p.Glu158=) | gnomAD v4 |
7 | g.75582102T>A | CA367727099 | HIP1 | c.515A>T (p.Glu172Val) c.428A>T (p.Glu143Val) c.413A>T (p.Glu138Val) c.473A>T (p.Glu158Val) | |
7 | g.75582102T>C | CA367727100 | HIP1 | c.515A>G (p.Glu172Gly) c.428A>G (p.Glu143Gly) c.413A>G (p.Glu138Gly) c.473A>G (p.Glu158Gly) | |
7 | g.75582102T>G | CA367727101 | HIP1 | c.515A>C (p.Glu172Ala) c.428A>C (p.Glu143Ala) c.413A>C (p.Glu138Ala) c.473A>C (p.Glu158Ala) | |
7 | g.75582103C>A | CA367727104 | HIP1 | c.514G>T (p.Glu172Ter) c.427G>T (p.Glu143Ter) c.412G>T (p.Glu138Ter) c.472G>T (p.Glu158Ter) | |
7 | g.75582103C= | CA1717985617 | HIP1 | c.514G= (p.Glu172=) c.427G= (p.Glu143=) c.412G= (p.Glu138=) c.472G= (p.Glu158=) | |
7 | g.75582103C>G | CA367727106 | HIP1 | c.514G>C (p.Glu172Gln) c.427G>C (p.Glu143Gln) c.412G>C (p.Glu138Gln) c.472G>C (p.Glu158Gln) | |
7 | g.75582103C>T | CA4302603 | HIP1 | c.514G>A (p.Glu172Lys) c.427G>A (p.Glu143Lys) c.412G>A (p.Glu138Lys) c.472G>A (p.Glu158Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.75582104G>A | CA4302605 | HIP1 | c.513C>T (p.Asp171=) c.426C>T (p.Asp142=) c.411C>T (p.Asp137=) c.471C>T (p.Asp157=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.75582104G>C | CA367727109 | HIP1 | c.513C>G (p.Asp171Glu) c.426C>G (p.Asp142Glu) c.411C>G (p.Asp137Glu) c.471C>G (p.Asp157Glu) | |
7 | g.75582104G= | CA1717985619 | HIP1 | c.513C= (p.Asp171=) c.426C= (p.Asp142=) c.411C= (p.Asp137=) c.471C= (p.Asp157=) | |
7 | g.75582104G>T | CA4302604 | HIP1 | c.513C>A (p.Asp171Glu) c.426C>A (p.Asp142Glu) c.411C>A (p.Asp137Glu) c.471C>A (p.Asp157Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.75582105T>A | CA367727134 | HIP1 | c.512A>T (p.Asp171Val) c.425A>T (p.Asp142Val) c.410A>T (p.Asp137Val) c.470A>T (p.Asp157Val) | |
7 | g.75582105T>C | CA367727139 | HIP1 | c.512A>G (p.Asp171Gly) c.425A>G (p.Asp142Gly) c.410A>G (p.Asp137Gly) c.470A>G (p.Asp157Gly) | |
7 | g.75582105T>G | CA367727125 | HIP1 | c.512A>C (p.Asp171Ala) c.425A>C (p.Asp142Ala) c.410A>C (p.Asp137Ala) c.470A>C (p.Asp157Ala) | |
7 | g.75582106C>A | CA367727141 | HIP1 | c.511G>T (p.Asp171Tyr) c.424G>T (p.Asp142Tyr) c.409G>T (p.Asp137Tyr) c.469G>T (p.Asp157Tyr) | |
7 | g.75582106C>G | CA367727143 | HIP1 | c.511G>C (p.Asp171His) c.424G>C (p.Asp142His) c.409G>C (p.Asp137His) c.469G>C (p.Asp157His) | gnomAD v4 |
7 | g.75582106C>T | CA367727146 | HIP1 | c.511G>A (p.Asp171Asn) c.424G>A (p.Asp142Asn) c.409G>A (p.Asp137Asn) c.469G>A (p.Asp157Asn) | |
7 | g.75582107C>A | CA455710090 | HIP1 | c.510G>T (p.Leu170=) c.423G>T (p.Leu141=) c.408G>T (p.Leu136=) c.468G>T (p.Leu156=) | |
7 | g.75582107C= | CA1717985621 | HIP1 | c.510G= (p.Leu170=) c.423G= (p.Leu141=) c.408G= (p.Leu136=) c.468G= (p.Leu156=) | |
7 | g.75582107C>G | CA455710095 | HIP1 | c.510G>C (p.Leu170=) c.423G>C (p.Leu141=) c.408G>C (p.Leu136=) c.468G>C (p.Leu156=) | |
7 | g.75582107C>T | CA455710107 | HIP1 | c.510G>A (p.Leu170=) c.423G>A (p.Leu141=) c.408G>A (p.Leu136=) c.468G>A (p.Leu156=) | dbSNP gnomAD v2 |
7 | g.75582108A>C | CA367727148 | HIP1 | c.509T>G (p.Leu170Arg) c.422T>G (p.Leu141Arg) c.407T>G (p.Leu136Arg) c.467T>G (p.Leu156Arg) | |
7 | g.75582108A>G | CA367727149 | HIP1 | c.509T>C (p.Leu170Pro) c.422T>C (p.Leu141Pro) c.407T>C (p.Leu136Pro) c.467T>C (p.Leu156Pro) | |
7 | g.75582108A>T | CA367727151 | HIP1 | c.509T>A (p.Leu170Gln) c.422T>A (p.Leu141Gln) c.407T>A (p.Leu136Gln) c.467T>A (p.Leu156Gln) | |
7 | g.75582109G>A | CA4302606 | HIP1 | c.508C>T (p.Leu170=) c.421C>T (p.Leu141=) c.406C>T (p.Leu136=) c.466C>T (p.Leu156=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.75582109G>C | CA367727153 | HIP1 | c.508C>G (p.Leu170Val) c.421C>G (p.Leu141Val) c.406C>G (p.Leu136Val) c.466C>G (p.Leu156Val) | |
7 | g.75582109G= | CA1717985623 | HIP1 | c.508C= (p.Leu170=) c.421C= (p.Leu141=) c.406C= (p.Leu136=) c.466C= (p.Leu156=) | |
7 | g.75582109G>T | CA367727154 | HIP1 | c.508C>A (p.Leu170Met) c.421C>A (p.Leu141Met) c.406C>A (p.Leu136Met) c.466C>A (p.Leu156Met) | |
7 | g.75582110C>A | CA367727161 | HIP1 | c.507G>T (p.Gln169His) c.420G>T (p.Gln140His) c.405G>T (p.Gln135His) c.465G>T (p.Gln155His) | gnomAD v4 |
7 | g.75582110C>G | CA367727167 | HIP1 | c.507G>C (p.Gln169His) c.420G>C (p.Gln140His) c.405G>C (p.Gln135His) c.465G>C (p.Gln155His) | |
7 | g.75582110C>T | CA455710168 | HIP1 | c.507G>A (p.Gln169=) c.420G>A (p.Gln140=) c.405G>A (p.Gln135=) c.465G>A (p.Gln155=) | |
7 | g.75582111T>A | CA367727169 | HIP1 | c.506A>T (p.Gln169Leu) c.419A>T (p.Gln140Leu) c.404A>T (p.Gln135Leu) c.464A>T (p.Gln155Leu) | |
7 | g.75582111T>C | CA367727170 | HIP1 | c.506A>G (p.Gln169Arg) c.419A>G (p.Gln140Arg) c.404A>G (p.Gln135Arg) c.464A>G (p.Gln155Arg) | |
7 | g.75582111T>G | CA367727171 | HIP1 | c.506A>C (p.Gln169Pro) c.419A>C (p.Gln140Pro) c.404A>C (p.Gln135Pro) c.464A>C (p.Gln155Pro) | |
7 | g.75582112G>A | CA367727173 | HIP1 | c.505C>T (p.Gln169Ter) c.418C>T (p.Gln140Ter) c.403C>T (p.Gln135Ter) c.463C>T (p.Gln155Ter) | |
7 | g.75582112G>C | CA367727176 | HIP1 | c.505C>G (p.Gln169Glu) c.418C>G (p.Gln140Glu) c.403C>G (p.Gln135Glu) c.463C>G (p.Gln155Glu) | |
7 | g.75582112G>T | CA367727174 | HIP1 | c.505C>A (p.Gln169Lys) c.418C>A (p.Gln140Lys) c.403C>A (p.Gln135Lys) c.463C>A (p.Gln155Lys) | |
7 | g.75582113G>A | CA455710206 | HIP1 | c.504C>T (p.Arg168=) c.417C>T (p.Arg139=) c.402C>T (p.Arg134=) c.462C>T (p.Arg154=) | |
7 | g.75582113G>C | CA455710209 | HIP1 | c.504C>G (p.Arg168=) c.417C>G (p.Arg139=) c.402C>G (p.Arg134=) c.462C>G (p.Arg154=) | |
7 | g.75582113G>T | CA455710215 | HIP1 | c.504C>A (p.Arg168=) c.417C>A (p.Arg139=) c.402C>A (p.Arg134=) c.462C>A (p.Arg154=) | |
7 | g.75582114C>A | CA367727179 | HIP1 | c.503G>T (p.Arg168Leu) c.416G>T (p.Arg139Leu) c.401G>T (p.Arg134Leu) c.461G>T (p.Arg154Leu) | |
7 | g.75582114C= | CA1717985625 | HIP1 | c.503G= (p.Arg168=) c.416G= (p.Arg139=) c.401G= (p.Arg134=) c.461G= (p.Arg154=) | |
7 | g.75582114C>G | CA367727180 | HIP1 | c.503G>C (p.Arg168Pro) c.416G>C (p.Arg139Pro) c.401G>C (p.Arg134Pro) c.461G>C (p.Arg154Pro) | dbSNP |
7 | g.75582114C>T | CA4302607 | HIP1 | c.503G>A (p.Arg168His) c.416G>A (p.Arg139His) c.401G>A (p.Arg134His) c.461G>A (p.Arg154His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.75582115G>A | CA4302608 | HIP1 | c.502C>T (p.Arg168Cys) c.415C>T (p.Arg139Cys) c.400C>T (p.Arg134Cys) c.460C>T (p.Arg154Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.75582115G>C | CA367727181 | HIP1 | c.502C>G (p.Arg168Gly) c.415C>G (p.Arg139Gly) c.400C>G (p.Arg134Gly) c.460C>G (p.Arg154Gly) | |
7 | g.75582115G= | CA1717985627 | HIP1 | c.502C= (p.Arg168=) c.415C= (p.Arg139=) c.400C= (p.Arg134=) c.460C= (p.Arg154=) | |
7 | g.75582115G>T | CA367727184 | HIP1 | c.502C>A (p.Arg168Ser) c.415C>A (p.Arg139Ser) c.400C>A (p.Arg134Ser) c.460C>A (p.Arg154Ser) | |
7 | g.75582116G>A | CA455710248 | HIP1 | c.501C>T (p.Asp167=) c.414C>T (p.Asp138=) c.399C>T (p.Asp133=) c.459C>T (p.Asp153=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.75582116G>C | CA367727187 | HIP1 | c.501C>G (p.Asp167Glu) c.414C>G (p.Asp138Glu) c.399C>G (p.Asp133Glu) c.459C>G (p.Asp153Glu) | |
7 | g.75582116G= | CA1717985629 | HIP1 | c.501C= (p.Asp167=) c.414C= (p.Asp138=) c.399C= (p.Asp133=) c.459C= (p.Asp153=) | |
7 | g.75582116G>T | CA367727188 | HIP1 | c.501C>A (p.Asp167Glu) c.414C>A (p.Asp138Glu) c.399C>A (p.Asp133Glu) c.459C>A (p.Asp153Glu) | dbSNP gnomAD v4 |
7 | g.75582116_75582117insGAC | CA2578914549 | HIP1 | c.500_501insGTC (p.Asp167delinsGluSer) c.413_414insGTC (p.Asp138delinsGluSer) c.398_399insGTC (p.Asp133delinsGluSer) c.458_459insGTC (p.Asp153delinsGluSer) | |
7 | g.75582117T>A | CA367727189 | HIP1 | c.500A>T (p.Asp167Val) c.413A>T (p.Asp138Val) c.398A>T (p.Asp133Val) c.458A>T (p.Asp153Val) | |
7 | g.75582117T>C | CA367727190 | HIP1 | c.500A>G (p.Asp167Gly) c.413A>G (p.Asp138Gly) c.398A>G (p.Asp133Gly) c.458A>G (p.Asp153Gly) | |
7 | g.75582117T>G | CA367727192 | HIP1 | c.500A>C (p.Asp167Ala) c.413A>C (p.Asp138Ala) c.398A>C (p.Asp133Ala) c.458A>C (p.Asp153Ala) | |
7 | g.75582118C>A | CA367727196 | HIP1 | c.499G>T (p.Asp167Tyr) c.412G>T (p.Asp138Tyr) c.397G>T (p.Asp133Tyr) c.457G>T (p.Asp153Tyr) | gnomAD v4 |
7 | g.75582118C>G | CA367727198 | HIP1 | c.499G>C (p.Asp167His) c.412G>C (p.Asp138His) c.397G>C (p.Asp133His) c.457G>C (p.Asp153His) | |
7 | g.75582118C>T | CA367727195 | HIP1 | c.499G>A (p.Asp167Asn) c.412G>A (p.Asp138Asn) c.397G>A (p.Asp133Asn) c.457G>A (p.Asp153Asn) | |
7 | g.75582119A>C | CA367727204 | HIP1 | c.498T>G (p.Ser166Arg) c.411T>G (p.Ser137Arg) c.396T>G (p.Ser132Arg) c.456T>G (p.Ser152Arg) | |
7 | g.75582119A>G | CA455710317 | HIP1 | c.498T>C (p.Ser166=) c.411T>C (p.Ser137=) c.396T>C (p.Ser132=) c.456T>C (p.Ser152=) | |
7 | g.75582119A>T | CA367727200 | HIP1 | c.498T>A (p.Ser166Arg) c.411T>A (p.Ser137Arg) c.396T>A (p.Ser132Arg) c.456T>A (p.Ser152Arg) | |
7 | g.75582120C>A | CA367727211 | HIP1 | c.497G>T (p.Ser166Ile) c.410G>T (p.Ser137Ile) c.395G>T (p.Ser132Ile) c.455G>T (p.Ser152Ile) | |
7 | g.75582120C= | CA1717985631 | HIP1 | c.497G= (p.Ser166=) c.410G= (p.Ser137=) c.395G= (p.Ser132=) c.455G= (p.Ser152=) | |
7 | g.75582120C>G | CA367727207 | HIP1 | c.497G>C (p.Ser166Thr) c.410G>C (p.Ser137Thr) c.395G>C (p.Ser132Thr) c.455G>C (p.Ser152Thr) | gnomAD v4 |
7 | g.75582120C>T | CA367727209 | HIP1 | c.497G>A (p.Ser166Asn) c.410G>A (p.Ser137Asn) c.395G>A (p.Ser132Asn) c.455G>A (p.Ser152Asn) | dbSNP |
7 | g.75582121T>A | CA367727214 | HIP1 | c.496A>T (p.Ser166Cys) c.409A>T (p.Ser137Cys) c.394A>T (p.Ser132Cys) c.454A>T (p.Ser152Cys) | |
7 | g.75582121T>C | CA367727217 | HIP1 | c.496A>G (p.Ser166Gly) c.409A>G (p.Ser137Gly) c.394A>G (p.Ser132Gly) c.454A>G (p.Ser152Gly) | |
7 | g.75582121T>G | CA367727220 | HIP1 | c.496A>C (p.Ser166Arg) c.409A>C (p.Ser137Arg) c.394A>C (p.Ser132Arg) c.454A>C (p.Ser152Arg) | |
7 | g.75582122C>A | CA367727221 | HIP1 | c.495G>T (p.Met165Ile) c.408G>T (p.Met136Ile) c.393G>T (p.Met131Ile) c.453G>T (p.Met151Ile) | |
7 | g.75582122C= | CA1717985633 | HIP1 | c.495G= (p.Met165=) c.408G= (p.Met136=) c.393G= (p.Met131=) c.453G= (p.Met151=) | |
7 | g.75582122C>G | CA367727222 | HIP1 | c.495G>C (p.Met165Ile) c.408G>C (p.Met136Ile) c.393G>C (p.Met131Ile) c.453G>C (p.Met151Ile) | dbSNP gnomAD v4 |
7 | g.75582122C>T | CA367727223 | HIP1 | c.495G>A (p.Met165Ile) c.408G>A (p.Met136Ile) c.393G>A (p.Met131Ile) c.453G>A (p.Met151Ile) | |
7 | g.75582123A>C | CA367727227 | HIP1 | c.494T>G (p.Met165Arg) c.407T>G (p.Met136Arg) c.392T>G (p.Met131Arg) c.452T>G (p.Met151Arg) | |
7 | g.75582123A>G | CA367727228 | HIP1 | c.494T>C (p.Met165Thr) c.407T>C (p.Met136Thr) c.392T>C (p.Met131Thr) c.452T>C (p.Met151Thr) | |
7 | g.75582123A>T | CA367727229 | HIP1 | c.494T>A (p.Met165Lys) c.407T>A (p.Met136Lys) c.392T>A (p.Met131Lys) c.452T>A (p.Met151Lys) | |
7 | g.75582124T>A | CA367727233 | HIP1 | c.493A>T (p.Met165Leu) c.406A>T (p.Met136Leu) c.391A>T (p.Met131Leu) c.451A>T (p.Met151Leu) | |
7 | g.75582124T>C | CA367727236 | HIP1 | c.493A>G (p.Met165Val) c.406A>G (p.Met136Val) c.391A>G (p.Met131Val) c.451A>G (p.Met151Val) | dbSNP |
7 | g.75582124T>G | CA367727238 | HIP1 | c.493A>C (p.Met165Leu) c.406A>C (p.Met136Leu) c.391A>C (p.Met131Leu) c.451A>C (p.Met151Leu) | |
7 | g.75582124T= | CA1717985635 | HIP1 | c.493A= (p.Met165=) c.406A= (p.Met136=) c.391A= (p.Met131=) c.451A= (p.Met151=) | |
7 | g.75582125C>A | CA367727244 | HIP1 | c.492G>T (p.Gln164His) c.405G>T (p.Gln135His) c.390G>T (p.Gln130His) c.450G>T (p.Gln150His) | |
7 | g.75582125C>G | CA367727241 | HIP1 | c.492G>C (p.Gln164His) c.405G>C (p.Gln135His) c.390G>C (p.Gln130His) c.450G>C (p.Gln150His) | gnomAD v4 |
7 | g.75582125C>T | CA455710387 | HIP1 | c.492G>A (p.Gln164=) c.405G>A (p.Gln135=) c.390G>A (p.Gln130=) c.450G>A (p.Gln150=) | gnomAD v4 |
7 | g.75582126T>A | CA367727249 | HIP1 | c.491A>T (p.Gln164Leu) c.404A>T (p.Gln135Leu) c.389A>T (p.Gln130Leu) c.449A>T (p.Gln150Leu) | |
7 | g.75582126T>C | CA367727252 | HIP1 | c.491A>G (p.Gln164Arg) c.404A>G (p.Gln135Arg) c.389A>G (p.Gln130Arg) c.449A>G (p.Gln150Arg) | |
7 | g.75582126T>G | CA367727255 | HIP1 | c.491A>C (p.Gln164Pro) c.404A>C (p.Gln135Pro) c.389A>C (p.Gln130Pro) c.449A>C (p.Gln150Pro) | |
7 | g.75582127G>A | CA367727256 | HIP1 | c.490C>T (p.Gln164Ter) c.403C>T (p.Gln135Ter) c.388C>T (p.Gln130Ter) c.448C>T (p.Gln150Ter) | |
7 | g.75582127G>C | CA367727257 | HIP1 | c.490C>G (p.Gln164Glu) c.403C>G (p.Gln135Glu) c.388C>G (p.Gln130Glu) c.448C>G (p.Gln150Glu) | |
7 | g.75582127G>T | CA367727258 | HIP1 | c.490C>A (p.Gln164Lys) c.403C>A (p.Gln135Lys) c.388C>A (p.Gln130Lys) c.448C>A (p.Gln150Lys) | |
7 | g.75582128C>A | CA455710408 | HIP1 | c.489G>T (p.Leu163=) c.402G>T (p.Leu134=) c.387G>T (p.Leu129=) c.447G>T (p.Leu149=) | |
7 | g.75582128C= | CA1717985637 | HIP1 | c.489G= (p.Leu163=) c.402G= (p.Leu134=) c.387G= (p.Leu129=) c.447G= (p.Leu149=) | |
7 | g.75582128C>G | CA455710410 | HIP1 | c.489G>C (p.Leu163=) c.402G>C (p.Leu134=) c.387G>C (p.Leu129=) c.447G>C (p.Leu149=) | |
7 | g.75582128C>T | CA159888443 | HIP1 | c.489G>A (p.Leu163=) c.402G>A (p.Leu134=) c.387G>A (p.Leu129=) c.447G>A (p.Leu149=) | dbSNP gnomAD v4 |
7 | g.75582129A>C | CA367727259 | HIP1 | c.488T>G (p.Leu163Arg) c.401T>G (p.Leu134Arg) c.386T>G (p.Leu129Arg) c.446T>G (p.Leu149Arg) | |
7 | g.75582129A>G | CA367727262 | HIP1 | c.488T>C (p.Leu163Pro) c.401T>C (p.Leu134Pro) c.386T>C (p.Leu129Pro) c.446T>C (p.Leu149Pro) | |
7 | g.75582129A>T | CA367727264 | HIP1 | c.488T>A (p.Leu163Gln) c.401T>A (p.Leu134Gln) c.386T>A (p.Leu129Gln) c.446T>A (p.Leu149Gln) | |
7 | g.75582130G>A | CA455710442 | HIP1 | c.487C>T (p.Leu163=) c.400C>T (p.Leu134=) c.385C>T (p.Leu129=) c.445C>T (p.Leu149=) | |
7 | g.75582130G>C | CA367727267 | HIP1 | c.487C>G (p.Leu163Val) c.400C>G (p.Leu134Val) c.385C>G (p.Leu129Val) c.445C>G (p.Leu149Val) | |
7 | g.75582130G>T | CA367727272 | HIP1 | c.487C>A (p.Leu163Met) c.400C>A (p.Leu134Met) c.385C>A (p.Leu129Met) c.445C>A (p.Leu149Met) | |
7 | g.75582131G>A | CA455710451 | HIP1 | c.486C>T (p.Asn162=) c.399C>T (p.Asn133=) c.384C>T (p.Asn128=) c.444C>T (p.Asn148=) | |
7 | g.75582131G>C | CA367727275 | HIP1 | c.486C>G (p.Asn162Lys) c.399C>G (p.Asn133Lys) c.384C>G (p.Asn128Lys) c.444C>G (p.Asn148Lys) | |
7 | g.75582131G>T | CA367727281 | HIP1 | c.486C>A (p.Asn162Lys) c.399C>A (p.Asn133Lys) c.384C>A (p.Asn128Lys) c.444C>A (p.Asn148Lys) | |
7 | g.75582132T>A | CA367727284 | HIP1 | c.485A>T (p.Asn162Ile) c.398A>T (p.Asn133Ile) c.383A>T (p.Asn128Ile) c.443A>T (p.Asn148Ile) | |
7 | g.75582132T>C | CA367727301 | HIP1 | c.485A>G (p.Asn162Ser) c.398A>G (p.Asn133Ser) c.383A>G (p.Asn128Ser) c.443A>G (p.Asn148Ser) | |
7 | g.75582132T>G | CA367727290 | HIP1 | c.485A>C (p.Asn162Thr) c.398A>C (p.Asn133Thr) c.383A>C (p.Asn128Thr) c.443A>C (p.Asn148Thr) | |
7 | g.75582133T>A | CA367727303 | HIP1 | c.484A>T (p.Asn162Tyr) c.397A>T (p.Asn133Tyr) c.382A>T (p.Asn128Tyr) c.442A>T (p.Asn148Tyr) | |
7 | g.75582133T>C | CA367727304 | HIP1 | c.484A>G (p.Asn162Asp) c.397A>G (p.Asn133Asp) c.382A>G (p.Asn128Asp) c.442A>G (p.Asn148Asp) | |
7 | g.75582133T>G | CA367727305 | HIP1 | c.484A>C (p.Asn162His) c.397A>C (p.Asn133His) c.382A>C (p.Asn128His) c.442A>C (p.Asn148His) | |
7 | g.75582134G>A | CA455710494 | HIP1 | c.483C>T (p.Gly161=) c.396C>T (p.Gly132=) c.381C>T (p.Gly127=) c.441C>T (p.Gly147=) | gnomAD v4 |
7 | g.75582134G>C | CA455710502 | HIP1 | c.483C>G (p.Gly161=) c.396C>G (p.Gly132=) c.381C>G (p.Gly127=) c.441C>G (p.Gly147=) | |
7 | g.75582134G>T | CA455710626 | HIP1 | c.483C>A (p.Gly161=) c.396C>A (p.Gly132=) c.381C>A (p.Gly127=) c.441C>A (p.Gly147=) | |
7 | g.75582135C>A | CA367727308 | HIP1 | c.482G>T (p.Gly161Val) c.395G>T (p.Gly132Val) c.380G>T (p.Gly127Val) c.440G>T (p.Gly147Val) | |
7 | g.75582135C>G | CA367727310 | HIP1 | c.482G>C (p.Gly161Ala) c.395G>C (p.Gly132Ala) c.380G>C (p.Gly127Ala) c.440G>C (p.Gly147Ala) | |
7 | g.75582135C>T | CA367727312 | HIP1 | c.482G>A (p.Gly161Asp) c.395G>A (p.Gly132Asp) c.380G>A (p.Gly127Asp) c.440G>A (p.Gly147Asp) | |
7 | g.75582136C>A | CA367727315 | HIP1 | c.481G>T (p.Gly161Cys) c.394G>T (p.Gly132Cys) c.379G>T (p.Gly127Cys) c.439G>T (p.Gly147Cys) | |
7 | g.75582136C>G | CA367727320 | HIP1 | c.481G>C (p.Gly161Arg) c.394G>C (p.Gly132Arg) c.379G>C (p.Gly127Arg) c.439G>C (p.Gly147Arg) | |
7 | g.75582136C>T | CA367727325 | HIP1 | c.481G>A (p.Gly161Ser) c.394G>A (p.Gly132Ser) c.379G>A (p.Gly127Ser) c.439G>A (p.Gly147Ser) | |
7 | g.75582137T>A | CA455710666 | HIP1 | c.480A>T (p.Pro160=) c.393A>T (p.Pro131=) c.378A>T (p.Pro126=) c.438A>T (p.Pro146=) | |
7 | g.75582137T>C | CA455710669 | HIP1 | c.480A>G (p.Pro160=) c.393A>G (p.Pro131=) c.378A>G (p.Pro126=) c.438A>G (p.Pro146=) | |
7 | g.75582137T>G | CA455710673 | HIP1 | c.480A>C (p.Pro160=) c.393A>C (p.Pro131=) c.378A>C (p.Pro126=) c.438A>C (p.Pro146=) | |
7 | g.75582137_75582138delinsTG | CA1717985638 | HIP1 | c.479_480delinsCA (p.Pro160=) c.392_393delinsCA (p.Pro131=) c.377_378delinsCA (p.Pro126=) c.437_438delinsCA (p.Pro146=) | |
7 | g.75582138G>A | CA367727334 | HIP1 | c.479C>T (p.Pro160Leu) c.392C>T (p.Pro131Leu) c.377C>T (p.Pro126Leu) c.437C>T (p.Pro146Leu) | |
7 | g.75582138G>C | CA367727337 | HIP1 | c.479C>G (p.Pro160Arg) c.392C>G (p.Pro131Arg) c.377C>G (p.Pro126Arg) c.437C>G (p.Pro146Arg) | |
7 | g.75582138G>T | CA367727340 | HIP1 | c.479C>A (p.Pro160Gln) c.392C>A (p.Pro131Gln) c.377C>A (p.Pro126Gln) c.437C>A (p.Pro146Gln) | |
7 | g.75582140del | CA1717985640 | HIP1 | c.479del (p.Pro160GlnfsTer6) c.392del (p.Pro131GlnfsTer6) c.377del (p.Pro126GlnfsTer6) c.437del (p.Pro146GlnfsTer6) | dbSNP gnomAD v4 |
7 | g.75582139G>A | CA367727344 | HIP1 | c.478C>T (p.Pro160Ser) c.391C>T (p.Pro131Ser) c.376C>T (p.Pro126Ser) c.436C>T (p.Pro146Ser) | |
7 | g.75582139G>C | CA367727342 | HIP1 | c.478C>G (p.Pro160Ala) c.391C>G (p.Pro131Ala) c.376C>G (p.Pro126Ala) c.436C>G (p.Pro146Ala) | |
7 | g.75582139G>T | CA367727343 | HIP1 | c.478C>A (p.Pro160Thr) c.391C>A (p.Pro131Thr) c.376C>A (p.Pro126Thr) c.436C>A (p.Pro146Thr) | |
7 | g.75582140G>A | CA455710706 | HIP1 | c.477C>T (p.Phe159=) c.390C>T (p.Phe130=) c.375C>T (p.Phe125=) c.435C>T (p.Phe145=) | |
7 | g.75582140G>C | CA367727347 | HIP1 | c.477C>G (p.Phe159Leu) c.390C>G (p.Phe130Leu) c.375C>G (p.Phe125Leu) c.435C>G (p.Phe145Leu) | dbSNP |
7 | g.75582140G= | CA1717985642 | HIP1 | c.477C= (p.Phe159=) c.390C= (p.Phe130=) c.375C= (p.Phe125=) c.435C= (p.Phe145=) | |
7 | g.75582140G>T | CA367727366 | HIP1 | c.477C>A (p.Phe159Leu) c.390C>A (p.Phe130Leu) c.375C>A (p.Phe125Leu) c.435C>A (p.Phe145Leu) | |
7 | g.75582141A>C | CA367727373 | HIP1 | c.476T>G (p.Phe159Cys) c.389T>G (p.Phe130Cys) c.374T>G (p.Phe125Cys) c.434T>G (p.Phe145Cys) | |
7 | g.75582141A>G | CA367727374 | HIP1 | c.476T>C (p.Phe159Ser) c.389T>C (p.Phe130Ser) c.374T>C (p.Phe125Ser) c.434T>C (p.Phe145Ser) | |
7 | g.75582141A>T | CA367727375 | HIP1 | c.476T>A (p.Phe159Tyr) c.389T>A (p.Phe130Tyr) c.374T>A (p.Phe125Tyr) c.434T>A (p.Phe145Tyr) | |
7 | g.75582142A>C | CA367727379 | HIP1 | c.475T>G (p.Phe159Val) c.388T>G (p.Phe130Val) c.373T>G (p.Phe125Val) c.433T>G (p.Phe145Val) | |
7 | g.75582142A>G | CA367727385 | HIP1 | c.475T>C (p.Phe159Leu) c.388T>C (p.Phe130Leu) c.373T>C (p.Phe125Leu) c.433T>C (p.Phe145Leu) | |
7 | g.75582142A>T | CA367727389 | HIP1 | c.475T>A (p.Phe159Ile) c.388T>A (p.Phe130Ile) c.373T>A (p.Phe125Ile) c.433T>A (p.Phe145Ile) | |
7 | g.75582143C>A | CA367727394 | HIP1 | c.474G>T (p.Arg158Ser) c.387G>T (p.Arg129Ser) c.372G>T (p.Arg124Ser) c.432G>T (p.Arg144Ser) | gnomAD v4 |
7 | g.75582143C= | CA1717985644 | HIP1 | c.474G= (p.Arg158=) c.387G= (p.Arg129=) c.372G= (p.Arg124=) c.432G= (p.Arg144=) | |
7 | g.75582143C>G | CA367727398 | HIP1 | c.474G>C (p.Arg158Ser) c.387G>C (p.Arg129Ser) c.372G>C (p.Arg124Ser) c.432G>C (p.Arg144Ser) | gnomAD v4 |
7 | g.75582143C>T | CA4302609 | HIP1 | c.474G>A (p.Arg158=) c.387G>A (p.Arg129=) c.372G>A (p.Arg124=) c.432G>A (p.Arg144=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.75582144C>A | CA367727408 | HIP1 | c.473G>T (p.Arg158Met) c.386G>T (p.Arg129Met) c.371G>T (p.Arg124Met) c.431G>T (p.Arg144Met) | gnomAD v4 |
7 | g.75582144C= | CA1717985647 | HIP1 | c.473G= (p.Arg158=) c.386G= (p.Arg129=) c.371G= (p.Arg124=) c.431G= (p.Arg144=) | |
7 | g.75582144C>G | CA4302610 | HIP1 | c.473G>C (p.Arg158Thr) c.386G>C (p.Arg129Thr) c.371G>C (p.Arg124Thr) c.431G>C (p.Arg144Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.75582144C>T | CA367727406 | HIP1 | c.473G>A (p.Arg158Lys) c.386G>A (p.Arg129Lys) c.371G>A (p.Arg124Lys) c.431G>A (p.Arg144Lys) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.75582145T>A | CA367727440 | HIP1 | c.472A>T (p.Arg158Trp) c.385A>T (p.Arg129Trp) c.370A>T (p.Arg124Trp) c.430A>T (p.Arg144Trp) | |
7 | g.75582145T>C | CA4302612 | HIP1 | c.472A>G (p.Arg158Gly) c.385A>G (p.Arg129Gly) c.370A>G (p.Arg124Gly) c.430A>G (p.Arg144Gly) | dbSNP ExAC gnomAD v2 |
7 | g.75582145T>G | CA4302611 | HIP1 | c.472A>C (p.Arg158=) c.385A>C (p.Arg129=) c.370A>C (p.Arg124=) c.430A>C (p.Arg144=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.75582145T= | CA1717985649 | HIP1 | c.472A= (p.Arg158=) c.385A= (p.Arg129=) c.370A= (p.Arg124=) c.430A= (p.Arg144=) | |
7 | g.75582146G>A | CA455710799 | HIP1 | c.471C>T (p.Pro157=) c.384C>T (p.Pro128=) c.369C>T (p.Pro123=) c.429C>T (p.Pro143=) | |
7 | g.75582146G>C | CA455710808 | HIP1 | c.471C>G (p.Pro157=) c.384C>G (p.Pro128=) c.369C>G (p.Pro123=) c.429C>G (p.Pro143=) | |
7 | g.75582146G>T | CA455710833 | HIP1 | c.471C>A (p.Pro157=) c.384C>A (p.Pro128=) c.369C>A (p.Pro123=) c.429C>A (p.Pro143=) | |
7 | g.75582147G>A | CA367727443 | HIP1 | c.470C>T (p.Pro157Leu) c.383C>T (p.Pro128Leu) c.368C>T (p.Pro123Leu) c.428C>T (p.Pro143Leu) | |
7 | g.75582147G>C | CA367727444 | HIP1 | c.470C>G (p.Pro157Arg) c.383C>G (p.Pro128Arg) c.368C>G (p.Pro123Arg) c.428C>G (p.Pro143Arg) | gnomAD v4 |
7 | g.75582147G>T | CA367727445 | HIP1 | c.470C>A (p.Pro157His) c.383C>A (p.Pro128His) c.368C>A (p.Pro123His) c.428C>A (p.Pro143His) | |
7 | g.75582148G>A | CA367727449 | HIP1 | c.469C>T (p.Pro157Ser) c.382C>T (p.Pro128Ser) c.367C>T (p.Pro123Ser) c.427C>T (p.Pro143Ser) | gnomAD v4 |
7 | g.75582148G>C | CA367727461 | HIP1 | c.469C>G (p.Pro157Ala) c.382C>G (p.Pro128Ala) c.367C>G (p.Pro123Ala) c.427C>G (p.Pro143Ala) | |
7 | g.75582148G>T | CA367727462 | HIP1 | c.469C>A (p.Pro157Thr) c.382C>A (p.Pro128Thr) c.367C>A (p.Pro123Thr) c.427C>A (p.Pro143Thr) | |
7 | g.75582149A>C | CA367727465 | HIP1 | c.468T>G (p.Asn156Lys) c.381T>G (p.Asn127Lys) c.366T>G (p.Asn122Lys) c.426T>G (p.Asn142Lys) | |
7 | g.75582149A>G | CA455710849 | HIP1 | c.468T>C (p.Asn156=) c.381T>C (p.Asn127=) c.366T>C (p.Asn122=) c.426T>C (p.Asn142=) | |
7 | g.75582149A>T | CA367727466 | HIP1 | c.468T>A (p.Asn156Lys) c.381T>A (p.Asn127Lys) c.366T>A (p.Asn122Lys) c.426T>A (p.Asn142Lys) | |
7 | g.75582150T>A | CA367727467 | HIP1 | c.467A>T (p.Asn156Ile) c.380A>T (p.Asn127Ile) c.365A>T (p.Asn122Ile) c.425A>T (p.Asn142Ile) | |
7 | g.75582150T>C | CA367727471 | HIP1 | c.467A>G (p.Asn156Ser) c.380A>G (p.Asn127Ser) c.365A>G (p.Asn122Ser) c.425A>G (p.Asn142Ser) | |
7 | g.75582150T>G | CA367727473 | HIP1 | c.467A>C (p.Asn156Thr) c.380A>C (p.Asn127Thr) c.365A>C (p.Asn122Thr) c.425A>C (p.Asn142Thr) | |
7 | g.75582151T>A | CA367727489 | HIP1 | c.466A>T (p.Asn156Tyr) c.379A>T (p.Asn127Tyr) c.364A>T (p.Asn122Tyr) c.424A>T (p.Asn142Tyr) | gnomAD v4 |
7 | g.75582151T>C | CA367727478 | HIP1 | c.466A>G (p.Asn156Asp) c.379A>G (p.Asn127Asp) c.364A>G (p.Asn122Asp) c.424A>G (p.Asn142Asp) | |
7 | g.75582151T>G | CA367727486 | HIP1 | c.466A>C (p.Asn156His) c.379A>C (p.Asn127His) c.364A>C (p.Asn122His) c.424A>C (p.Asn142His) | |
7 | g.75582152C>A | CA367727491 | HIP1 | c.466-1G>T (n.466-1G>T) c.379-1G>T (n.379-1G>T) c.364-1G>T (n.364-1G>T) c.424-1G>T (n.424-1G>T) | |
7 | g.75582152C>G | CA367727493 | HIP1 | c.466-1G>C (n.466-1G>C) c.379-1G>C (n.379-1G>C) c.364-1G>C (n.364-1G>C) c.424-1G>C (n.424-1G>C) | gnomAD v4 |
7 | g.75582152C>T | CA367727494 | HIP1 | c.466-1G>A (n.466-1G>A) c.379-1G>A (n.379-1G>A) c.364-1G>A (n.364-1G>A) c.424-1G>A (n.424-1G>A) | |
7 | g.75582153T>A | CA367727498 | HIP1 | c.466-2A>T (n.466-2A>T) c.379-2A>T (n.379-2A>T) c.364-2A>T (n.364-2A>T) c.424-2A>T (n.424-2A>T) | |
7 | g.75582153T>C | CA367727500 | HIP1 | c.466-2A>G (n.466-2A>G) c.379-2A>G (n.379-2A>G) c.364-2A>G (n.364-2A>G) c.424-2A>G (n.424-2A>G) | |
7 | g.75582153T>G | CA367727503 | HIP1 | c.466-2A>C (n.466-2A>C) c.379-2A>C (n.379-2A>C) c.364-2A>C (n.364-2A>C) c.424-2A>C (n.424-2A>C) | |
7 | g.75582154G>A | CA2683363509 | HIP1 | c.466-3C>T (n.466-3C>T) c.379-3C>T (n.379-3C>T) c.364-3C>T (n.364-3C>T) c.424-3C>T (n.424-3C>T) | gnomAD v4 |
7 | g.75582154G= | CA1717985651 | HIP1 | c.466-3C= (n.466-3C=) c.379-3C= (n.379-3C=) c.364-3C= (n.364-3C=) c.424-3C= (n.424-3C=) | |
7 | g.75582154G>T | CA575556922 | HIP1 | c.466-3C>A (n.466-3C>A) c.379-3C>A (n.379-3C>A) c.364-3C>A (n.364-3C>A) c.424-3C>A (n.424-3C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.75582163_75582176del | CA2683363507 | HIP1 | c.466-16_466-3del (n.466-16_466-3del) c.379-16_379-3del (n.379-16_379-3del) c.364-16_364-3del (n.364-16_364-3del) c.424-16_424-3del (n.424-16_424-3del) | gnomAD v4 |
7 | g.75582155G>A | CA2683363517 | HIP1 | c.466-4C>T (n.466-4C>T) c.379-4C>T (n.379-4C>T) c.364-4C>T (n.364-4C>T) c.424-4C>T (n.424-4C>T) | gnomAD v4 |
7 | g.75582155G= | CA1717985653 | HIP1 | c.466-4C= (n.466-4C=) c.379-4C= (n.379-4C=) c.364-4C= (n.364-4C=) c.424-4C= (n.424-4C=) | |
7 | g.75582155G>T | CA4302613 | HIP1 | c.466-4C>A (n.466-4C>A) c.379-4C>A (n.379-4C>A) c.364-4C>A (n.364-4C>A) c.424-4C>A (n.424-4C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.75582158G>A | CA1717985654 | HIP1 | c.466-7C>T (n.466-7C>T) c.379-7C>T (n.379-7C>T) c.364-7C>T (n.364-7C>T) c.424-7C>T (n.424-7C>T) | dbSNP |
7 | g.75582158G= | CA1717985656 | HIP1 | c.466-7C= (n.466-7C=) c.379-7C= (n.379-7C=) c.364-7C= (n.364-7C=) c.424-7C= (n.424-7C=) | |
7 | g.75582158G>T | CA2683363519 | HIP1 | c.466-7C>A (n.466-7C>A) c.379-7C>A (n.379-7C>A) c.364-7C>A (n.364-7C>A) c.424-7C>A (n.424-7C>A) | gnomAD v4 |
7 | g.75582159G= | CA1717985657 | HIP1 | c.466-8C= (n.466-8C=) c.379-8C= (n.379-8C=) c.364-8C= (n.364-8C=) c.424-8C= (n.424-8C=) | |
7 | g.75582159G>T | CA4302614 | HIP1 | c.466-8C>A (n.466-8C>A) c.379-8C>A (n.379-8C>A) c.364-8C>A (n.364-8C>A) c.424-8C>A (n.424-8C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.75582162G>A | CA4302615 | HIP1 | c.466-11C>T (n.466-11C>T) c.379-11C>T (n.379-11C>T) c.364-11C>T (n.364-11C>T) c.424-11C>T (n.424-11C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.75582162G= | CA1717985658 | HIP1 | c.466-11C= (n.466-11C=) c.379-11C= (n.379-11C=) c.364-11C= (n.364-11C=) c.424-11C= (n.424-11C=) | |
7 | g.75582163G>A | CA4302616 | HIP1 | c.466-12C>T (n.466-12C>T) c.379-12C>T (n.379-12C>T) c.364-12C>T (n.364-12C>T) c.424-12C>T (n.424-12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.75582163G= | CA1717985660 | HIP1 | c.466-12C= (n.466-12C=) c.379-12C= (n.379-12C=) c.364-12C= (n.364-12C=) c.424-12C= (n.424-12C=) | |
7 | g.75582163G>T | CA575556929 | HIP1 | c.466-12C>A (n.466-12C>A) c.379-12C>A (n.379-12C>A) c.364-12C>A (n.364-12C>A) c.424-12C>A (n.424-12C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.75582164C= | CA1717985663 | HIP1 | c.466-13G= (n.466-13G=) c.379-13G= (n.379-13G=) c.364-13G= (n.364-13G=) c.424-13G= (n.424-13G=) | |
7 | g.75582164C>G | CA651266522 | HIP1 | c.466-13G>C (n.466-13G>C) c.379-13G>C (n.379-13G>C) c.364-13G>C (n.364-13G>C) c.424-13G>C (n.424-13G>C) | COSMIC |
7 | g.75582164C>T | CA575556931 | HIP1 | c.466-13G>A (n.466-13G>A) c.379-13G>A (n.379-13G>A) c.364-13G>A (n.364-13G>A) c.424-13G>A (n.424-13G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.75582167_75582180del | CA2683363528 | HIP1 | c.466-26_466-13del (n.466-26_466-13del) c.379-26_379-13del (n.379-26_379-13del) c.364-26_364-13del (n.364-26_364-13del) c.424-26_424-13del (n.424-26_424-13del) | gnomAD v4 |
7 | g.75582165A>G | CA2776533414 | HIP1 | c.466-14T>C (n.466-14T>C) c.379-14T>C (n.379-14T>C) c.364-14T>C (n.364-14T>C) c.424-14T>C (n.424-14T>C) | |
7 | g.75582166G>T | CA2683363530 | HIP1 | c.466-15C>A (n.466-15C>A) c.379-15C>A (n.379-15C>A) c.364-15C>A (n.364-15C>A) c.424-15C>A (n.424-15C>A) | gnomAD v4 |
7 | g.75582167A>T | CA2578914550 | HIP1 | c.466-16T>A (n.466-16T>A) c.379-16T>A (n.379-16T>A) c.364-16T>A (n.364-16T>A) c.424-16T>A (n.424-16T>A) | |
7 | g.75582168G>A | CA4302617 | HIP1 | c.466-17C>T (n.466-17C>T) c.379-17C>T (n.379-17C>T) c.364-17C>T (n.364-17C>T) c.424-17C>T (n.424-17C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.75582168G>C | CA2776533416 | HIP1 | c.466-17C>G (n.466-17C>G) c.379-17C>G (n.379-17C>G) c.364-17C>G (n.364-17C>G) c.424-17C>G (n.424-17C>G) | |
7 | g.75582168G= | CA1717985664 | HIP1 | c.466-17C= (n.466-17C=) c.379-17C= (n.379-17C=) c.364-17C= (n.364-17C=) c.424-17C= (n.424-17C=) |