Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.46032164dup | CA2841630697 | KANSL1 | c.2976dup (p.Ile993HisfsTer2) c.2973dup (p.Ile992HisfsTer2) c.2784dup (p.Ile929HisfsTer2) c.633dup (p.Ile212HisfsTer2) n.393dup c.2844dup (p.Ile949HisfsTer2) n.7193dup n.406dup n.948dup c.2874dup (p.Ile959HisfsTer2) c.2787dup (p.Ile930HisfsTer2) c.1746dup (p.Ile583HisfsTer2) | |
17 | g.46032162G>A | CA399986777 | KANSL1 | c.2975C>T (p.Pro992Leu) c.2972C>T (p.Pro991Leu) c.2783C>T (p.Pro928Leu) c.632C>T (p.Pro211Leu) n.392C>T c.2843C>T (p.Pro948Leu) n.7192C>T n.405C>T n.947C>T c.2873C>T (p.Pro958Leu) c.2786C>T (p.Pro929Leu) c.1745C>T (p.Pro582Leu) | |
17 | g.46032162G>C | CA399986781 | KANSL1 | c.2975C>G (p.Pro992Arg) c.2972C>G (p.Pro991Arg) c.2783C>G (p.Pro928Arg) c.632C>G (p.Pro211Arg) n.392C>G c.2843C>G (p.Pro948Arg) n.7192C>G n.405C>G n.947C>G c.2873C>G (p.Pro958Arg) c.2786C>G (p.Pro929Arg) c.1745C>G (p.Pro582Arg) | |
17 | g.46032162G>T | CA399986778 | KANSL1 | c.2975C>A (p.Pro992His) c.2972C>A (p.Pro991His) c.2783C>A (p.Pro928His) c.632C>A (p.Pro211His) n.392C>A c.2843C>A (p.Pro948His) n.7192C>A n.405C>A n.947C>A c.2873C>A (p.Pro958His) c.2786C>A (p.Pro929His) c.1745C>A (p.Pro582His) | |
17 | g.46032163G>A | CA399986784 | KANSL1 | c.2974C>T (p.Pro992Ser) c.2971C>T (p.Pro991Ser) c.2782C>T (p.Pro928Ser) c.631C>T (p.Pro211Ser) n.391C>T c.2842C>T (p.Pro948Ser) n.7191C>T n.404C>T n.946C>T c.2872C>T (p.Pro958Ser) c.2785C>T (p.Pro929Ser) c.1744C>T (p.Pro582Ser) | dbSNP |
17 | g.46032163G>C | CA399986786 | KANSL1 | c.2974C>G (p.Pro992Ala) c.2971C>G (p.Pro991Ala) c.2782C>G (p.Pro928Ala) c.631C>G (p.Pro211Ala) n.391C>G c.2842C>G (p.Pro948Ala) n.7191C>G n.404C>G n.946C>G c.2872C>G (p.Pro958Ala) c.2785C>G (p.Pro929Ala) c.1744C>G (p.Pro582Ala) | |
17 | g.46032163G= | CA2262111026 | KANSL1 | c.2974C= (p.Pro992=) c.2971C= (p.Pro991=) c.2782C= (p.Pro928=) c.631C= (p.Pro211=) n.391C= c.2842C= (p.Pro948=) n.7191C= n.404C= n.946C= c.2872C= (p.Pro958=) c.2785C= (p.Pro929=) c.1744C= (p.Pro582=) | |
17 | g.46032163G>T | CA399986789 | KANSL1 | c.2974C>A (p.Pro992Thr) c.2971C>A (p.Pro991Thr) c.2782C>A (p.Pro928Thr) c.631C>A (p.Pro211Thr) n.391C>A c.2842C>A (p.Pro948Thr) n.7191C>A n.404C>A n.946C>A c.2872C>A (p.Pro958Thr) c.2785C>A (p.Pro929Thr) c.1744C>A (p.Pro582Thr) | |
17 | g.46032164G>A | CA500371997 | KANSL1 | c.2973C>T (p.Ser991=) c.2970C>T (p.Ser990=) c.2781C>T (p.Ser927=) c.630C>T (p.Ser210=) n.390C>T c.2841C>T (p.Ser947=) n.7190C>T n.403C>T n.945C>T c.2871C>T (p.Ser957=) c.2784C>T (p.Ser928=) c.1743C>T (p.Ser581=) | |
17 | g.46032164G>C | CA399986793 | KANSL1 | c.2973C>G (p.Ser991Arg) c.2970C>G (p.Ser990Arg) c.2781C>G (p.Ser927Arg) c.630C>G (p.Ser210Arg) n.390C>G c.2841C>G (p.Ser947Arg) n.7190C>G n.403C>G n.945C>G c.2871C>G (p.Ser957Arg) c.2784C>G (p.Ser928Arg) c.1743C>G (p.Ser581Arg) | |
17 | g.46032164G>T | CA399986796 | KANSL1 | c.2973C>A (p.Ser991Arg) c.2970C>A (p.Ser990Arg) c.2781C>A (p.Ser927Arg) c.630C>A (p.Ser210Arg) n.390C>A c.2841C>A (p.Ser947Arg) n.7190C>A n.403C>A n.945C>A c.2871C>A (p.Ser957Arg) c.2784C>A (p.Ser928Arg) c.1743C>A (p.Ser581Arg) | |
17 | g.46032165C>A | CA399986800 | KANSL1 | c.2972G>T (p.Ser991Ile) c.2969G>T (p.Ser990Ile) c.2780G>T (p.Ser927Ile) c.629G>T (p.Ser210Ile) n.389G>T c.2840G>T (p.Ser947Ile) n.7189G>T n.358G>T n.402G>T n.944G>T c.2870G>T (p.Ser957Ile) c.2783G>T (p.Ser928Ile) c.1742G>T (p.Ser581Ile) | |
17 | g.46032165C>G | CA399986801 | KANSL1 | c.2972G>C (p.Ser991Thr) c.2969G>C (p.Ser990Thr) c.2780G>C (p.Ser927Thr) c.629G>C (p.Ser210Thr) n.389G>C c.2840G>C (p.Ser947Thr) n.7189G>C n.358G>C n.402G>C n.944G>C c.2870G>C (p.Ser957Thr) c.2783G>C (p.Ser928Thr) c.1742G>C (p.Ser581Thr) | |
17 | g.46032165C>T | CA399986805 | KANSL1 | c.2972G>A (p.Ser991Asn) c.2969G>A (p.Ser990Asn) c.2780G>A (p.Ser927Asn) c.629G>A (p.Ser210Asn) n.389G>A c.2840G>A (p.Ser947Asn) n.7189G>A n.358G>A n.402G>A n.944G>A c.2870G>A (p.Ser957Asn) c.2783G>A (p.Ser928Asn) c.1742G>A (p.Ser581Asn) | |
17 | g.46032166T>A | CA399986808 | KANSL1 | c.2971A>T (p.Ser991Cys) c.2968A>T (p.Ser990Cys) c.2779A>T (p.Ser927Cys) c.628A>T (p.Ser210Cys) n.388A>T c.2839A>T (p.Ser947Cys) n.7188A>T n.357A>T n.401A>T n.943A>T c.2869A>T (p.Ser957Cys) c.2782A>T (p.Ser928Cys) c.1741A>T (p.Ser581Cys) | |
17 | g.46032166T>C | CA399986810 | KANSL1 | c.2971A>G (p.Ser991Gly) c.2968A>G (p.Ser990Gly) c.2779A>G (p.Ser927Gly) c.628A>G (p.Ser210Gly) n.388A>G c.2839A>G (p.Ser947Gly) n.7188A>G n.357A>G n.401A>G n.943A>G c.2869A>G (p.Ser957Gly) c.2782A>G (p.Ser928Gly) c.1741A>G (p.Ser581Gly) | |
17 | g.46032166T>G | CA399986813 | KANSL1 | c.2971A>C (p.Ser991Arg) c.2968A>C (p.Ser990Arg) c.2779A>C (p.Ser927Arg) c.628A>C (p.Ser210Arg) n.388A>C c.2839A>C (p.Ser947Arg) n.7188A>C n.357A>C n.401A>C n.943A>C c.2869A>C (p.Ser957Arg) c.2782A>C (p.Ser928Arg) c.1741A>C (p.Ser581Arg) | |
17 | g.46032167C>A | CA399986816 | KANSL1 | c.2970G>T (p.Arg990Ser) c.2967G>T (p.Arg989Ser) c.2778G>T (p.Arg926Ser) c.627G>T (p.Arg209Ser) n.387G>T c.2838G>T (p.Arg946Ser) n.7187G>T n.356G>T n.400G>T n.942G>T c.2868G>T (p.Arg956Ser) c.2781G>T (p.Arg927Ser) c.1740G>T (p.Arg580Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46032167C= | CA2262111027 | KANSL1 | c.2970G= (p.Arg990=) c.2967G= (p.Arg989=) c.2778G= (p.Arg926=) c.627G= (p.Arg209=) n.387G= c.2838G= (p.Arg946=) n.7187G= n.356G= n.400G= n.942G= c.2868G= (p.Arg956=) c.2781G= (p.Arg927=) c.1740G= (p.Arg580=) | |
17 | g.46032167C>G | CA399986817 | KANSL1 | c.2970G>C (p.Arg990Ser) c.2967G>C (p.Arg989Ser) c.2778G>C (p.Arg926Ser) c.627G>C (p.Arg209Ser) n.387G>C c.2838G>C (p.Arg946Ser) n.7187G>C n.356G>C n.400G>C n.942G>C c.2868G>C (p.Arg956Ser) c.2781G>C (p.Arg927Ser) c.1740G>C (p.Arg580Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.46032167C>T | CA500371998 | KANSL1 | c.2970G>A (p.Arg990=) c.2967G>A (p.Arg989=) c.2778G>A (p.Arg926=) c.627G>A (p.Arg209=) n.387G>A c.2838G>A (p.Arg946=) n.7187G>A n.356G>A n.400G>A n.942G>A c.2868G>A (p.Arg956=) c.2781G>A (p.Arg927=) c.1740G>A (p.Arg580=) | |
17 | g.46032168C>A | CA399986827 | KANSL1 | c.2969G>T (p.Arg990Met) c.2966G>T (p.Arg989Met) c.2777G>T (p.Arg926Met) c.626G>T (p.Arg209Met) n.386G>T c.2838-1G>T (n.2838-1G>T) n.7186G>T n.355G>T n.399G>T n.941G>T c.2867G>T (p.Arg956Met) c.2780G>T (p.Arg927Met) c.1739G>T (p.Arg580Met) | |
17 | g.46032168C>G | CA399986820 | KANSL1 | c.2969G>C (p.Arg990Thr) c.2966G>C (p.Arg989Thr) c.2777G>C (p.Arg926Thr) c.626G>C (p.Arg209Thr) n.386G>C c.2838-1G>C (n.2838-1G>C) n.7186G>C n.355G>C n.399G>C n.941G>C c.2867G>C (p.Arg956Thr) c.2780G>C (p.Arg927Thr) c.1739G>C (p.Arg580Thr) | |
17 | g.46032168C>T | CA399986824 | KANSL1 | c.2969G>A (p.Arg990Lys) c.2966G>A (p.Arg989Lys) c.2777G>A (p.Arg926Lys) c.626G>A (p.Arg209Lys) n.386G>A c.2838-1G>A (n.2838-1G>A) n.7186G>A n.355G>A n.399G>A n.941G>A c.2867G>A (p.Arg956Lys) c.2780G>A (p.Arg927Lys) c.1739G>A (p.Arg580Lys) | |
17 | g.46032169T>A | CA399986831 | KANSL1 | c.2968A>T (p.Arg990Trp) c.2965A>T (p.Arg989Trp) c.2776A>T (p.Arg926Trp) c.625A>T (p.Arg209Trp) n.385A>T c.2838-2A>T (n.2838-2A>T) n.7185A>T n.354A>T n.398A>T n.940A>T c.2866A>T (p.Arg956Trp) c.2779A>T (p.Arg927Trp) c.1738A>T (p.Arg580Trp) | |
17 | g.46032169T>C | CA399986833 | KANSL1 | c.2968A>G (p.Arg990Gly) c.2965A>G (p.Arg989Gly) c.2776A>G (p.Arg926Gly) c.625A>G (p.Arg209Gly) n.385A>G c.2838-2A>G (n.2838-2A>G) n.7185A>G n.354A>G n.398A>G n.940A>G c.2866A>G (p.Arg956Gly) c.2779A>G (p.Arg927Gly) c.1738A>G (p.Arg580Gly) | |
17 | g.46032169T>G | CA500371999 | KANSL1 | c.2968A>C (p.Arg990=) c.2965A>C (p.Arg989=) c.2776A>C (p.Arg926=) c.625A>C (p.Arg209=) n.385A>C c.2838-2A>C (n.2838-2A>C) n.7185A>C n.354A>C n.398A>C n.940A>C c.2866A>C (p.Arg956=) c.2779A>C (p.Arg927=) c.1738A>C (p.Arg580=) | |
17 | g.46032170A>C | CA500372001 | KANSL1 | c.2967T>G (p.Pro989=) c.2964T>G (p.Pro988=) c.2775T>G (p.Pro925=) c.624T>G (p.Pro208=) n.384T>G c.2838-3T>G (n.2838-3T>G) n.7184T>G n.353T>G n.397T>G n.939T>G c.2865T>G (p.Pro955=) c.2778T>G (p.Pro926=) c.1737T>G (p.Pro579=) | |
17 | g.46032170A>G | CA500372000 | KANSL1 | c.2967T>C (p.Pro989=) c.2964T>C (p.Pro988=) c.2775T>C (p.Pro925=) c.624T>C (p.Pro208=) n.384T>C c.2838-3T>C (n.2838-3T>C) n.7184T>C n.353T>C n.397T>C n.939T>C c.2865T>C (p.Pro955=) c.2778T>C (p.Pro926=) c.1737T>C (p.Pro579=) | |
17 | g.46032170A>T | CA500372002 | KANSL1 | c.2967T>A (p.Pro989=) c.2964T>A (p.Pro988=) c.2775T>A (p.Pro925=) c.624T>A (p.Pro208=) n.384T>A c.2838-3T>A (n.2838-3T>A) n.7184T>A n.353T>A n.397T>A n.939T>A c.2865T>A (p.Pro955=) c.2778T>A (p.Pro926=) c.1737T>A (p.Pro579=) | |
17 | g.46032171G>A | CA399986837 | KANSL1 | c.2966C>T (p.Pro989Leu) c.2963C>T (p.Pro988Leu) c.2774C>T (p.Pro925Leu) c.623C>T (p.Pro208Leu) n.383C>T c.2838-4C>T (n.2838-4C>T) n.7183C>T n.352C>T n.396C>T n.938C>T c.2864C>T (p.Pro955Leu) c.2777C>T (p.Pro926Leu) c.1736C>T (p.Pro579Leu) | COSMIC |
17 | g.46032171G>C | CA399986840 | KANSL1 | c.2966C>G (p.Pro989Arg) c.2963C>G (p.Pro988Arg) c.2774C>G (p.Pro925Arg) c.623C>G (p.Pro208Arg) n.383C>G c.2838-4C>G (n.2838-4C>G) n.7183C>G n.352C>G n.396C>G n.938C>G c.2864C>G (p.Pro955Arg) c.2777C>G (p.Pro926Arg) c.1736C>G (p.Pro579Arg) | ClinVar gnomAD v4 |
17 | g.46032171G>T | CA399986842 | KANSL1 | c.2966C>A (p.Pro989His) c.2963C>A (p.Pro988His) c.2774C>A (p.Pro925His) c.623C>A (p.Pro208His) n.383C>A c.2838-4C>A (n.2838-4C>A) n.7183C>A n.352C>A n.396C>A n.938C>A c.2864C>A (p.Pro955His) c.2777C>A (p.Pro926His) c.1736C>A (p.Pro579His) | |
17 | g.46032172G>A | CA399986846 | KANSL1 | c.2965C>T (p.Pro989Ser) c.2962C>T (p.Pro988Ser) c.2773C>T (p.Pro925Ser) c.622C>T (p.Pro208Ser) n.382C>T c.2838-5C>T (n.2838-5C>T) n.7182C>T n.351C>T n.395C>T n.937C>T c.2863C>T (p.Pro955Ser) c.2776C>T (p.Pro926Ser) c.1735C>T (p.Pro579Ser) | |
17 | g.46032172G>C | CA399986848 | KANSL1 | c.2965C>G (p.Pro989Ala) c.2962C>G (p.Pro988Ala) c.2773C>G (p.Pro925Ala) c.622C>G (p.Pro208Ala) n.382C>G c.2838-5C>G (n.2838-5C>G) n.7182C>G n.351C>G n.395C>G n.937C>G c.2863C>G (p.Pro955Ala) c.2776C>G (p.Pro926Ala) c.1735C>G (p.Pro579Ala) | |
17 | g.46032172G= | CA2262111028 | KANSL1 | c.2965C= (p.Pro989=) c.2962C= (p.Pro988=) c.2773C= (p.Pro925=) c.622C= (p.Pro208=) n.382C= c.2838-5C= (n.2838-5C=) n.7182C= n.351C= n.395C= n.937C= c.2863C= (p.Pro955=) c.2776C= (p.Pro926=) c.1735C= (p.Pro579=) | |
17 | g.46032172G>T | CA399986852 | KANSL1 | c.2965C>A (p.Pro989Thr) c.2962C>A (p.Pro988Thr) c.2773C>A (p.Pro925Thr) c.622C>A (p.Pro208Thr) n.382C>A c.2838-5C>A (n.2838-5C>A) n.7182C>A n.351C>A n.395C>A n.937C>A c.2863C>A (p.Pro955Thr) c.2776C>A (p.Pro926Thr) c.1735C>A (p.Pro579Thr) | dbSNP |
17 | g.46032173G>A | CA500372004 | KANSL1 | c.2964C>T (p.Ser988=) c.2961C>T (p.Ser987=) c.2772C>T (p.Ser924=) c.621C>T (p.Ser207=) n.381C>T c.2838-6C>T (n.2838-6C>T) n.7181C>T n.350C>T n.394C>T n.936C>T c.2862C>T (p.Ser954=) c.2775C>T (p.Ser925=) c.1734C>T (p.Ser578=) | |
17 | g.46032173G>C | CA500372003 | KANSL1 | c.2964C>G (p.Ser988=) c.2961C>G (p.Ser987=) c.2772C>G (p.Ser924=) c.621C>G (p.Ser207=) n.381C>G c.2838-6C>G (n.2838-6C>G) n.7181C>G n.350C>G n.394C>G n.936C>G c.2862C>G (p.Ser954=) c.2775C>G (p.Ser925=) c.1734C>G (p.Ser578=) | |
17 | g.46032173G>T | CA500372005 | KANSL1 | c.2964C>A (p.Ser988=) c.2961C>A (p.Ser987=) c.2772C>A (p.Ser924=) c.621C>A (p.Ser207=) n.381C>A c.2838-6C>A (n.2838-6C>A) n.7181C>A n.350C>A n.394C>A n.936C>A c.2862C>A (p.Ser954=) c.2775C>A (p.Ser925=) c.1734C>A (p.Ser578=) | |
17 | g.46032174G>A | CA399986855 | KANSL1 | c.2963C>T (p.Ser988Phe) c.2960C>T (p.Ser987Phe) c.2771C>T (p.Ser924Phe) c.620C>T (p.Ser207Phe) n.380C>T c.2838-7C>T (n.2838-7C>T) n.7180C>T n.349C>T n.393C>T n.935C>T c.2861C>T (p.Ser954Phe) c.2774C>T (p.Ser925Phe) c.1733C>T (p.Ser578Phe) | |
17 | g.46032174G>C | CA399986857 | KANSL1 | c.2963C>G (p.Ser988Cys) c.2960C>G (p.Ser987Cys) c.2771C>G (p.Ser924Cys) c.620C>G (p.Ser207Cys) n.380C>G c.2838-7C>G (n.2838-7C>G) n.7180C>G n.349C>G n.393C>G n.935C>G c.2861C>G (p.Ser954Cys) c.2774C>G (p.Ser925Cys) c.1733C>G (p.Ser578Cys) | |
17 | g.46032174G>T | CA399986860 | KANSL1 | c.2963C>A (p.Ser988Tyr) c.2960C>A (p.Ser987Tyr) c.2771C>A (p.Ser924Tyr) c.620C>A (p.Ser207Tyr) n.380C>A c.2838-7C>A (n.2838-7C>A) n.7180C>A n.349C>A n.393C>A n.935C>A c.2861C>A (p.Ser954Tyr) c.2774C>A (p.Ser925Tyr) c.1733C>A (p.Ser578Tyr) | ClinVar gnomAD v4 |
17 | g.46032175A>C | CA399986865 | KANSL1 | c.2962T>G (p.Ser988Ala) c.2959T>G (p.Ser987Ala) c.2770T>G (p.Ser924Ala) c.619T>G (p.Ser207Ala) n.379T>G c.2838-8T>G (n.2838-8T>G) n.7179T>G n.348T>G n.392T>G n.934T>G c.2860T>G (p.Ser954Ala) c.2773T>G (p.Ser925Ala) c.1732T>G (p.Ser578Ala) | |
17 | g.46032175A>G | CA399986870 | KANSL1 | c.2962T>C (p.Ser988Pro) c.2959T>C (p.Ser987Pro) c.2770T>C (p.Ser924Pro) c.619T>C (p.Ser207Pro) n.379T>C c.2838-8T>C (n.2838-8T>C) n.7179T>C n.348T>C n.392T>C n.934T>C c.2860T>C (p.Ser954Pro) c.2773T>C (p.Ser925Pro) c.1732T>C (p.Ser578Pro) | |
17 | g.46032175A>T | CA399986867 | KANSL1 | c.2962T>A (p.Ser988Thr) c.2959T>A (p.Ser987Thr) c.2770T>A (p.Ser924Thr) c.619T>A (p.Ser207Thr) n.379T>A c.2838-8T>A (n.2838-8T>A) n.7179T>A n.348T>A n.392T>A n.934T>A c.2860T>A (p.Ser954Thr) c.2773T>A (p.Ser925Thr) c.1732T>A (p.Ser578Thr) | |
17 | g.46032176C>A | CA399986882 | KANSL1 | c.2961G>T (p.Gln987His) c.2958G>T (p.Gln986His) c.2769G>T (p.Gln923His) c.618G>T (p.Gln206His) n.378G>T c.2838-9G>T (n.2838-9G>T) n.7178G>T n.347G>T n.391G>T n.933G>T c.2859G>T (p.Gln953His) c.2772G>T (p.Gln924His) c.1731G>T (p.Gln577His) | |
17 | g.46032176C>G | CA399986886 | KANSL1 | c.2961G>C (p.Gln987His) c.2958G>C (p.Gln986His) c.2769G>C (p.Gln923His) c.618G>C (p.Gln206His) n.378G>C c.2838-9G>C (n.2838-9G>C) n.7178G>C n.347G>C n.391G>C n.933G>C c.2859G>C (p.Gln953His) c.2772G>C (p.Gln924His) c.1731G>C (p.Gln577His) | |
17 | g.46032176C>T | CA500372006 | KANSL1 | c.2961G>A (p.Gln987=) c.2958G>A (p.Gln986=) c.2769G>A (p.Gln923=) c.618G>A (p.Gln206=) n.378G>A c.2838-9G>A (n.2838-9G>A) n.7178G>A n.347G>A n.391G>A n.933G>A c.2859G>A (p.Gln953=) c.2772G>A (p.Gln924=) c.1731G>A (p.Gln577=) | |
17 | g.46032177T>A | CA399986889 | KANSL1 | c.2960A>T (p.Gln987Leu) c.2957A>T (p.Gln986Leu) c.2768A>T (p.Gln923Leu) c.617A>T (p.Gln206Leu) n.377A>T c.2838-10A>T (n.2838-10A>T) n.7177A>T n.346A>T n.390A>T n.932A>T c.2858A>T (p.Gln953Leu) c.2771A>T (p.Gln924Leu) c.1730A>T (p.Gln577Leu) | |
17 | g.46032177T>C | CA399986893 | KANSL1 | c.2960A>G (p.Gln987Arg) c.2957A>G (p.Gln986Arg) c.2768A>G (p.Gln923Arg) c.617A>G (p.Gln206Arg) n.377A>G c.2838-10A>G (n.2838-10A>G) n.7177A>G n.346A>G n.390A>G n.932A>G c.2858A>G (p.Gln953Arg) c.2771A>G (p.Gln924Arg) c.1730A>G (p.Gln577Arg) | dbSNP gnomAD v4 |
17 | g.46032177T>G | CA399986895 | KANSL1 | c.2960A>C (p.Gln987Pro) c.2957A>C (p.Gln986Pro) c.2768A>C (p.Gln923Pro) c.617A>C (p.Gln206Pro) n.377A>C c.2838-10A>C (n.2838-10A>C) n.7177A>C n.346A>C n.390A>C n.932A>C c.2858A>C (p.Gln953Pro) c.2771A>C (p.Gln924Pro) c.1730A>C (p.Gln577Pro) | |
17 | g.46032177T= | CA2262111029 | KANSL1 | c.2960A= (p.Gln987=) c.2957A= (p.Gln986=) c.2768A= (p.Gln923=) c.617A= (p.Gln206=) n.377A= c.2838-10A= (n.2838-10A=) n.7177A= n.346A= n.390A= n.932A= c.2858A= (p.Gln953=) c.2771A= (p.Gln924=) c.1730A= (p.Gln577=) | |
17 | g.46032178G>A | CA399986899 | KANSL1 | c.2959C>T (p.Gln987Ter) c.2956C>T (p.Gln986Ter) c.2767C>T (p.Gln923Ter) c.616C>T (p.Gln206Ter) n.376C>T c.2838-11C>T (n.2838-11C>T) n.7176C>T n.345C>T n.389C>T n.931C>T c.2857C>T (p.Gln953Ter) c.2770C>T (p.Gln924Ter) c.1729C>T (p.Gln577Ter) | |
17 | g.46032178G>C | CA399986902 | KANSL1 | c.2959C>G (p.Gln987Glu) c.2956C>G (p.Gln986Glu) c.2767C>G (p.Gln923Glu) c.616C>G (p.Gln206Glu) n.376C>G c.2838-11C>G (n.2838-11C>G) n.7176C>G n.345C>G n.389C>G n.931C>G c.2857C>G (p.Gln953Glu) c.2770C>G (p.Gln924Glu) c.1729C>G (p.Gln577Glu) | |
17 | g.46032178G>T | CA399986903 | KANSL1 | c.2959C>A (p.Gln987Lys) c.2956C>A (p.Gln986Lys) c.2767C>A (p.Gln923Lys) c.616C>A (p.Gln206Lys) n.376C>A c.2838-11C>A (n.2838-11C>A) n.7176C>A n.345C>A n.389C>A n.931C>A c.2857C>A (p.Gln953Lys) c.2770C>A (p.Gln924Lys) c.1729C>A (p.Gln577Lys) | |
17 | g.46032179A= | CA2262111030 | KANSL1 | c.2958T= (p.Gly986=) c.2955T= (p.Gly985=) c.2766T= (p.Gly922=) c.615T= (p.Gly205=) n.375T= c.2838-12T= (n.2838-12T=) n.7175T= n.344T= n.388T= n.930T= c.2856T= (p.Gly952=) c.2769T= (p.Gly923=) c.1728T= (p.Gly576=) | |
17 | g.46032179A>C | CA8618410 | KANSL1 | c.2958T>G (p.Gly986=) c.2955T>G (p.Gly985=) c.2766T>G (p.Gly922=) c.615T>G (p.Gly205=) n.375T>G c.2838-12T>G (n.2838-12T>G) n.7175T>G n.344T>G n.388T>G n.930T>G c.2856T>G (p.Gly952=) c.2769T>G (p.Gly923=) c.1728T>G (p.Gly576=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032179A>G | CA500372007 | KANSL1 | c.2958T>C (p.Gly986=) c.2955T>C (p.Gly985=) c.2766T>C (p.Gly922=) c.615T>C (p.Gly205=) n.375T>C c.2838-12T>C (n.2838-12T>C) n.7175T>C n.344T>C n.388T>C n.930T>C c.2856T>C (p.Gly952=) c.2769T>C (p.Gly923=) c.1728T>C (p.Gly576=) | ClinVar dbSNP |
17 | g.46032179A>T | CA500372008 | KANSL1 | c.2958T>A (p.Gly986=) c.2955T>A (p.Gly985=) c.2766T>A (p.Gly922=) c.615T>A (p.Gly205=) n.375T>A c.2838-12T>A (n.2838-12T>A) n.7175T>A n.344T>A n.388T>A n.930T>A c.2856T>A (p.Gly952=) c.2769T>A (p.Gly923=) c.1728T>A (p.Gly576=) | |
17 | g.46032179_46032181delinsACC | CA2262111031 | KANSL1 | c.2956_2958delinsGGT (p.Gly986=) c.2953_2955delinsGGT (p.Gly985=) c.2764_2766delinsGGT (p.Gly922=) c.613_615delinsGGT (p.Gly205=) n.373_375delinsGGT c.2838-14_2838-12delinsGGT (n.2838-14_2838-12delinsGGT) n.7173_7175delinsGGT n.342_344delinsGGT n.386_388delinsGGT n.928_930delinsGGT c.2854_2856delinsGGT (p.Gly952=) c.2767_2769delinsGGT (p.Gly923=) c.1726_1728delinsGGT (p.Gly576=) | |
17 | g.46032180C>A | CA399986913 | KANSL1 | c.2957G>T (p.Gly986Val) c.2954G>T (p.Gly985Val) c.2765G>T (p.Gly922Val) c.614G>T (p.Gly205Val) n.374G>T c.2838-13G>T (n.2838-13G>T) n.7174G>T n.343G>T n.387G>T n.929G>T c.2855G>T (p.Gly952Val) c.2768G>T (p.Gly923Val) c.1727G>T (p.Gly576Val) | |
17 | g.46032180C= | CA2262111032 | KANSL1 | c.2957G= (p.Gly986=) c.2954G= (p.Gly985=) c.2765G= (p.Gly922=) c.614G= (p.Gly205=) n.374G= c.2838-13G= (n.2838-13G=) n.7174G= n.343G= n.387G= n.929G= c.2855G= (p.Gly952=) c.2768G= (p.Gly923=) c.1727G= (p.Gly576=) | |
17 | g.46032180C>G | CA291125908 | KANSL1 | c.2957G>C (p.Gly986Ala) c.2954G>C (p.Gly985Ala) c.2765G>C (p.Gly922Ala) c.614G>C (p.Gly205Ala) n.374G>C c.2838-13G>C (n.2838-13G>C) n.7174G>C n.343G>C n.387G>C n.929G>C c.2855G>C (p.Gly952Ala) c.2768G>C (p.Gly923Ala) c.1727G>C (p.Gly576Ala) | ClinVar dbSNP gnomAD v4 |
17 | g.46032180C>T | CA399986910 | KANSL1 | c.2957G>A (p.Gly986Asp) c.2954G>A (p.Gly985Asp) c.2765G>A (p.Gly922Asp) c.614G>A (p.Gly205Asp) n.374G>A c.2838-13G>A (n.2838-13G>A) n.7174G>A n.343G>A n.387G>A n.929G>A c.2855G>A (p.Gly952Asp) c.2768G>A (p.Gly923Asp) c.1727G>A (p.Gly576Asp) | |
17 | g.46032180_46032181del | CA915950166 | KANSL1 | c.2956_2957del (p.Gly986SerfsTer4) c.2953_2954del (p.Gly985SerfsTer4) c.2764_2765del (p.Gly922SerfsTer4) c.613_614del (p.Gly205SerfsTer4) n.373_374del c.2838-14_2838-13del (n.2838-14_2838-13del) n.7173_7174del n.342_343del n.386_387del n.928_929del c.2854_2855del (p.Gly952SerfsTer4) c.2767_2768del (p.Gly923SerfsTer4) c.1726_1727del (p.Gly576SerfsTer4) | ClinVar dbSNP |
17 | g.46032181C>A | CA399986915 | KANSL1 | c.2956G>T (p.Gly986Cys) c.2953G>T (p.Gly985Cys) c.2764G>T (p.Gly922Cys) c.613G>T (p.Gly205Cys) n.373G>T c.2838-14G>T (n.2838-14G>T) n.7173G>T n.342G>T n.386G>T n.928G>T c.2854G>T (p.Gly952Cys) c.2767G>T (p.Gly923Cys) c.1726G>T (p.Gly576Cys) | |
17 | g.46032181C>G | CA399986917 | KANSL1 | c.2956G>C (p.Gly986Arg) c.2953G>C (p.Gly985Arg) c.2764G>C (p.Gly922Arg) c.613G>C (p.Gly205Arg) n.373G>C c.2838-14G>C (n.2838-14G>C) n.7173G>C n.342G>C n.386G>C n.928G>C c.2854G>C (p.Gly952Arg) c.2767G>C (p.Gly923Arg) c.1726G>C (p.Gly576Arg) | |
17 | g.46032181C>T | CA399986923 | KANSL1 | c.2956G>A (p.Gly986Ser) c.2953G>A (p.Gly985Ser) c.2764G>A (p.Gly922Ser) c.613G>A (p.Gly205Ser) n.373G>A c.2838-14G>A (n.2838-14G>A) n.7173G>A n.342G>A n.386G>A n.928G>A c.2854G>A (p.Gly952Ser) c.2767G>A (p.Gly923Ser) c.1726G>A (p.Gly576Ser) | ClinVar dbSNP gnomAD v4 |
17 | g.46032182A>C | CA399986927 | KANSL1 | c.2955T>G (p.His985Gln) c.2952T>G (p.His984Gln) c.2763T>G (p.His921Gln) c.612T>G (p.His204Gln) n.372T>G c.2838-15T>G (n.2838-15T>G) n.7172T>G n.341T>G n.385T>G n.927T>G c.2853T>G (p.His951Gln) c.2766T>G (p.His922Gln) c.1725T>G (p.His575Gln) | |
17 | g.46032182A>G | CA500372009 | KANSL1 | c.2955T>C (p.His985=) c.2952T>C (p.His984=) c.2763T>C (p.His921=) c.612T>C (p.His204=) n.372T>C c.2838-15T>C (n.2838-15T>C) n.7172T>C n.341T>C n.385T>C n.927T>C c.2853T>C (p.His951=) c.2766T>C (p.His922=) c.1725T>C (p.His575=) | gnomAD v4 |
17 | g.46032182A>T | CA399986928 | KANSL1 | c.2955T>A (p.His985Gln) c.2952T>A (p.His984Gln) c.2763T>A (p.His921Gln) c.612T>A (p.His204Gln) n.372T>A c.2838-15T>A (n.2838-15T>A) n.7172T>A n.341T>A n.385T>A n.927T>A c.2853T>A (p.His951Gln) c.2766T>A (p.His922Gln) c.1725T>A (p.His575Gln) | |
17 | g.46032183T>A | CA399986936 | KANSL1 | c.2954A>T (p.His985Leu) c.2951A>T (p.His984Leu) c.2762A>T (p.His921Leu) c.611A>T (p.His204Leu) n.371A>T c.2838-16A>T (n.2838-16A>T) n.7171A>T n.340A>T n.384A>T n.926A>T c.2852A>T (p.His951Leu) c.2765A>T (p.His922Leu) c.1724A>T (p.His575Leu) | |
17 | g.46032183T>C | CA8618411 | KANSL1 | c.2954A>G (p.His985Arg) c.2951A>G (p.His984Arg) c.2762A>G (p.His921Arg) c.611A>G (p.His204Arg) n.371A>G c.2838-16A>G (n.2838-16A>G) n.7171A>G n.340A>G n.384A>G n.926A>G c.2852A>G (p.His951Arg) c.2765A>G (p.His922Arg) c.1724A>G (p.His575Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46032183T>G | CA399986934 | KANSL1 | c.2954A>C (p.His985Pro) c.2951A>C (p.His984Pro) c.2762A>C (p.His921Pro) c.611A>C (p.His204Pro) n.371A>C c.2838-16A>C (n.2838-16A>C) n.7171A>C n.340A>C n.384A>C n.926A>C c.2852A>C (p.His951Pro) c.2765A>C (p.His922Pro) c.1724A>C (p.His575Pro) | |
17 | g.46032183T= | CA2262111033 | KANSL1 | c.2954A= (p.His985=) c.2951A= (p.His984=) c.2762A= (p.His921=) c.611A= (p.His204=) n.371A= c.2838-16A= (n.2838-16A=) n.7171A= n.340A= n.384A= n.926A= c.2852A= (p.His951=) c.2765A= (p.His922=) c.1724A= (p.His575=) | |
17 | g.46032184G>A | CA399986940 | KANSL1 | c.2953C>T (p.His985Tyr) c.2950C>T (p.His984Tyr) c.2761C>T (p.His921Tyr) c.610C>T (p.His204Tyr) n.370C>T c.2838-17C>T (n.2838-17C>T) n.7170C>T n.339C>T n.383C>T n.925C>T c.2851C>T (p.His951Tyr) c.2764C>T (p.His922Tyr) c.1723C>T (p.His575Tyr) | gnomAD v4 |
17 | g.46032184G>C | CA399986941 | KANSL1 | c.2953C>G (p.His985Asp) c.2950C>G (p.His984Asp) c.2761C>G (p.His921Asp) c.610C>G (p.His204Asp) n.370C>G c.2838-17C>G (n.2838-17C>G) n.7170C>G n.339C>G n.383C>G n.925C>G c.2851C>G (p.His951Asp) c.2764C>G (p.His922Asp) c.1723C>G (p.His575Asp) | |
17 | g.46032184G>T | CA399986942 | KANSL1 | c.2953C>A (p.His985Asn) c.2950C>A (p.His984Asn) c.2761C>A (p.His921Asn) c.610C>A (p.His204Asn) n.370C>A c.2838-17C>A (n.2838-17C>A) n.7170C>A n.339C>A n.383C>A n.925C>A c.2851C>A (p.His951Asn) c.2764C>A (p.His922Asn) c.1723C>A (p.His575Asn) | gnomAD v4 |
17 | g.46032185G>A | CA500372011 | KANSL1 | c.2952C>T (p.Ser984=) c.2949C>T (p.Ser983=) c.2760C>T (p.Ser920=) c.609C>T (p.Ser203=) n.369C>T c.2838-18C>T (n.2838-18C>T) n.7169C>T n.338C>T n.382C>T n.924C>T c.2850C>T (p.Ser950=) c.2763C>T (p.Ser921=) c.1722C>T (p.Ser574=) | COSMIC |
17 | g.46032185G>C | CA8618412 | KANSL1 | c.2952C>G (p.Ser984=) c.2949C>G (p.Ser983=) c.2760C>G (p.Ser920=) c.609C>G (p.Ser203=) n.369C>G c.2838-18C>G (n.2838-18C>G) n.7169C>G n.338C>G n.382C>G n.924C>G c.2850C>G (p.Ser950=) c.2763C>G (p.Ser921=) c.1722C>G (p.Ser574=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032185G= | CA2262111034 | KANSL1 | c.2952C= (p.Ser984=) c.2949C= (p.Ser983=) c.2760C= (p.Ser920=) c.609C= (p.Ser203=) n.369C= c.2838-18C= (n.2838-18C=) n.7169C= n.338C= n.382C= n.924C= c.2850C= (p.Ser950=) c.2763C= (p.Ser921=) c.1722C= (p.Ser574=) | |
17 | g.46032185G>T | CA500372010 | KANSL1 | c.2952C>A (p.Ser984=) c.2949C>A (p.Ser983=) c.2760C>A (p.Ser920=) c.609C>A (p.Ser203=) n.369C>A c.2838-18C>A (n.2838-18C>A) n.7169C>A n.338C>A n.382C>A n.924C>A c.2850C>A (p.Ser950=) c.2763C>A (p.Ser921=) c.1722C>A (p.Ser574=) | |
17 | g.46032186G>A | CA399986944 | KANSL1 | c.2951C>T (p.Ser984Phe) c.2948C>T (p.Ser983Phe) c.2759C>T (p.Ser920Phe) n.899C>T c.608C>T (p.Ser203Phe) n.368C>T c.2838-19C>T (n.2838-19C>T) n.7168C>T n.337C>T n.381C>T n.923C>T c.2849C>T (p.Ser950Phe) c.2762C>T (p.Ser921Phe) c.1721C>T (p.Ser574Phe) | COSMIC |
17 | g.46032186G>C | CA399986948 | KANSL1 | c.2951C>G (p.Ser984Cys) c.2948C>G (p.Ser983Cys) c.2759C>G (p.Ser920Cys) n.899C>G c.608C>G (p.Ser203Cys) n.368C>G c.2838-19C>G (n.2838-19C>G) n.7168C>G n.337C>G n.381C>G n.923C>G c.2849C>G (p.Ser950Cys) c.2762C>G (p.Ser921Cys) c.1721C>G (p.Ser574Cys) | |
17 | g.46032186G= | CA2262111035 | KANSL1 | c.2951C= (p.Ser984=) c.2948C= (p.Ser983=) c.2759C= (p.Ser920=) n.899C= c.608C= (p.Ser203=) n.368C= c.2838-19C= (n.2838-19C=) n.7168C= n.337C= n.381C= n.923C= c.2849C= (p.Ser950=) c.2762C= (p.Ser921=) c.1721C= (p.Ser574=) | |
17 | g.46032186G>T | CA315130 | KANSL1 | c.2951C>A (p.Ser984Tyr) c.2948C>A (p.Ser983Tyr) c.2759C>A (p.Ser920Tyr) n.899C>A c.608C>A (p.Ser203Tyr) n.368C>A c.2838-19C>A (n.2838-19C>A) n.7168C>A n.337C>A n.381C>A n.923C>A c.2849C>A (p.Ser950Tyr) c.2762C>A (p.Ser921Tyr) c.1721C>A (p.Ser574Tyr) | ClinVar dbSNP |
17 | g.46032187A>C | CA399986959 | KANSL1 | c.2950T>G (p.Ser984Ala) c.2947T>G (p.Ser983Ala) c.2758T>G (p.Ser920Ala) n.898T>G c.607T>G (p.Ser203Ala) n.367T>G c.2838-20T>G (n.2838-20T>G) n.7167T>G n.336T>G n.380T>G n.922T>G c.2848T>G (p.Ser950Ala) c.2761T>G (p.Ser921Ala) c.1720T>G (p.Ser574Ala) | |
17 | g.46032187A>G | CA399986962 | KANSL1 | c.2950T>C (p.Ser984Pro) c.2947T>C (p.Ser983Pro) c.2758T>C (p.Ser920Pro) n.898T>C c.607T>C (p.Ser203Pro) n.367T>C c.2838-20T>C (n.2838-20T>C) n.7167T>C n.336T>C n.380T>C n.922T>C c.2848T>C (p.Ser950Pro) c.2761T>C (p.Ser921Pro) c.1720T>C (p.Ser574Pro) | |
17 | g.46032187A>T | CA399986965 | KANSL1 | c.2950T>A (p.Ser984Thr) c.2947T>A (p.Ser983Thr) c.2758T>A (p.Ser920Thr) n.898T>A c.607T>A (p.Ser203Thr) n.367T>A c.2838-20T>A (n.2838-20T>A) n.7167T>A n.336T>A n.380T>A n.922T>A c.2848T>A (p.Ser950Thr) c.2761T>A (p.Ser921Thr) c.1720T>A (p.Ser574Thr) | |
17 | g.46032188G>A | CA291709 | KANSL1 | c.2949C>T (p.Tyr983=) c.2946C>T (p.Tyr982=) c.2757C>T (p.Tyr919=) n.897C>T c.606C>T (p.Tyr202=) n.366C>T c.2838-21C>T (n.2838-21C>T) n.7166C>T n.335C>T n.379C>T n.921C>T c.2847C>T (p.Tyr949=) c.2760C>T (p.Tyr920=) c.1719C>T (p.Tyr573=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032188G>C | CA399986972 | KANSL1 | c.2949C>G (p.Tyr983Ter) c.2946C>G (p.Tyr982Ter) c.2757C>G (p.Tyr919Ter) n.897C>G c.606C>G (p.Tyr202Ter) n.366C>G c.2838-21C>G (n.2838-21C>G) n.7166C>G n.335C>G n.379C>G n.921C>G c.2847C>G (p.Tyr949Ter) c.2760C>G (p.Tyr920Ter) c.1719C>G (p.Tyr573Ter) | |
17 | g.46032188G= | CA2262111036 | KANSL1 | c.2949C= (p.Tyr983=) c.2946C= (p.Tyr982=) c.2757C= (p.Tyr919=) n.897C= c.606C= (p.Tyr202=) n.366C= c.2838-21C= (n.2838-21C=) n.7166C= n.335C= n.379C= n.921C= c.2847C= (p.Tyr949=) c.2760C= (p.Tyr920=) c.1719C= (p.Tyr573=) | |
17 | g.46032188G>T | CA399986975 | KANSL1 | c.2949C>A (p.Tyr983Ter) c.2946C>A (p.Tyr982Ter) c.2757C>A (p.Tyr919Ter) n.897C>A c.606C>A (p.Tyr202Ter) n.366C>A c.2838-21C>A (n.2838-21C>A) n.7166C>A n.335C>A n.379C>A n.921C>A c.2847C>A (p.Tyr949Ter) c.2760C>A (p.Tyr920Ter) c.1719C>A (p.Tyr573Ter) | |
17 | g.46032189T>A | CA399986979 | KANSL1 | c.2948A>T (p.Tyr983Phe) c.2945A>T (p.Tyr982Phe) c.2756A>T (p.Tyr919Phe) n.896A>T c.605A>T (p.Tyr202Phe) n.365A>T c.2838-22A>T (n.2838-22A>T) n.7165A>T n.334A>T n.378A>T n.920A>T c.2846A>T (p.Tyr949Phe) c.2759A>T (p.Tyr920Phe) c.1718A>T (p.Tyr573Phe) | |
17 | g.46032189T>C | CA399986982 | KANSL1 | c.2948A>G (p.Tyr983Cys) c.2945A>G (p.Tyr982Cys) c.2756A>G (p.Tyr919Cys) n.896A>G c.605A>G (p.Tyr202Cys) n.365A>G c.2838-22A>G (n.2838-22A>G) n.7165A>G n.334A>G n.378A>G n.920A>G c.2846A>G (p.Tyr949Cys) c.2759A>G (p.Tyr920Cys) c.1718A>G (p.Tyr573Cys) | |
17 | g.46032189T>G | CA399986980 | KANSL1 | c.2948A>C (p.Tyr983Ser) c.2945A>C (p.Tyr982Ser) c.2756A>C (p.Tyr919Ser) n.896A>C c.605A>C (p.Tyr202Ser) n.365A>C c.2838-22A>C (n.2838-22A>C) n.7165A>C n.334A>C n.378A>C n.920A>C c.2846A>C (p.Tyr949Ser) c.2759A>C (p.Tyr920Ser) c.1718A>C (p.Tyr573Ser) | |
17 | g.46032190A>C | CA399986985 | KANSL1 | c.2947T>G (p.Tyr983Asp) c.2944T>G (p.Tyr982Asp) c.2755T>G (p.Tyr919Asp) n.895T>G c.604T>G (p.Tyr202Asp) n.364T>G c.2838-23T>G (n.2838-23T>G) n.7164T>G n.333T>G n.377T>G n.919T>G c.2845T>G (p.Tyr949Asp) c.2758T>G (p.Tyr920Asp) c.1717T>G (p.Tyr573Asp) | |
17 | g.46032190A>G | CA399986988 | KANSL1 | c.2947T>C (p.Tyr983His) c.2944T>C (p.Tyr982His) c.2755T>C (p.Tyr919His) n.895T>C c.604T>C (p.Tyr202His) n.364T>C c.2838-23T>C (n.2838-23T>C) n.7164T>C n.333T>C n.377T>C n.919T>C c.2845T>C (p.Tyr949His) c.2758T>C (p.Tyr920His) c.1717T>C (p.Tyr573His) | |
17 | g.46032190A>T | CA399986990 | KANSL1 | c.2947T>A (p.Tyr983Asn) c.2944T>A (p.Tyr982Asn) c.2755T>A (p.Tyr919Asn) n.895T>A c.604T>A (p.Tyr202Asn) n.364T>A c.2838-23T>A (n.2838-23T>A) n.7164T>A n.333T>A n.377T>A n.919T>A c.2845T>A (p.Tyr949Asn) c.2758T>A (p.Tyr920Asn) c.1717T>A (p.Tyr573Asn) | gnomAD v4 |
17 | g.46032191T>A | CA399986992 | KANSL1 | c.2946A>T (p.Glu982Asp) c.2943A>T (p.Glu981Asp) c.2754A>T (p.Glu918Asp) n.894A>T c.603A>T (p.Glu201Asp) n.363A>T c.2838-24A>T (n.2838-24A>T) n.7163A>T n.332A>T n.376A>T n.918A>T c.2844A>T (p.Glu948Asp) c.2757A>T (p.Glu919Asp) c.1716A>T (p.Glu572Asp) | |
17 | g.46032191T>C | CA291125919 | KANSL1 | c.2946A>G (p.Glu982=) c.2943A>G (p.Glu981=) c.2754A>G (p.Glu918=) n.894A>G c.603A>G (p.Glu201=) n.363A>G c.2838-24A>G (n.2838-24A>G) n.7163A>G n.332A>G n.376A>G n.918A>G c.2844A>G (p.Glu948=) c.2757A>G (p.Glu919=) c.1716A>G (p.Glu572=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46032191T>G | CA399986995 | KANSL1 | c.2946A>C (p.Glu982Asp) c.2943A>C (p.Glu981Asp) c.2754A>C (p.Glu918Asp) n.894A>C c.603A>C (p.Glu201Asp) n.363A>C c.2838-24A>C (n.2838-24A>C) n.7163A>C n.332A>C n.376A>C n.918A>C c.2844A>C (p.Glu948Asp) c.2757A>C (p.Glu919Asp) c.1716A>C (p.Glu572Asp) | |
17 | g.46032191T= | CA2262111037 | KANSL1 | c.2946A= (p.Glu982=) c.2943A= (p.Glu981=) c.2754A= (p.Glu918=) n.894A= c.603A= (p.Glu201=) n.363A= c.2838-24A= (n.2838-24A=) n.7163A= n.332A= n.376A= n.918A= c.2844A= (p.Glu948=) c.2757A= (p.Glu919=) c.1716A= (p.Glu572=) | |
17 | g.46032192T>A | CA399987003 | KANSL1 | c.2945A>T (p.Glu982Val) c.2942A>T (p.Glu981Val) c.2753A>T (p.Glu918Val) n.893A>T c.602A>T (p.Glu201Val) n.362A>T c.2838-25A>T (n.2838-25A>T) n.7162A>T n.331A>T n.375A>T n.917A>T c.2843A>T (p.Glu948Val) c.2756A>T (p.Glu919Val) c.1715A>T (p.Glu572Val) | |
17 | g.46032192T>C | CA399987000 | KANSL1 | c.2945A>G (p.Glu982Gly) c.2942A>G (p.Glu981Gly) c.2753A>G (p.Glu918Gly) n.893A>G c.602A>G (p.Glu201Gly) n.362A>G c.2838-25A>G (n.2838-25A>G) n.7162A>G n.331A>G n.375A>G n.917A>G c.2843A>G (p.Glu948Gly) c.2756A>G (p.Glu919Gly) c.1715A>G (p.Glu572Gly) | |
17 | g.46032192T>G | CA399986998 | KANSL1 | c.2945A>C (p.Glu982Ala) c.2942A>C (p.Glu981Ala) c.2753A>C (p.Glu918Ala) n.893A>C c.602A>C (p.Glu201Ala) n.362A>C c.2838-25A>C (n.2838-25A>C) n.7162A>C n.331A>C n.375A>C n.917A>C c.2843A>C (p.Glu948Ala) c.2756A>C (p.Glu919Ala) c.1715A>C (p.Glu572Ala) | |
17 | g.46032193C>A | CA399987007 | KANSL1 | c.2944G>T (p.Glu982Ter) c.2941G>T (p.Glu981Ter) c.2752G>T (p.Glu918Ter) n.892G>T c.601G>T (p.Glu201Ter) n.361G>T c.2838-26G>T (n.2838-26G>T) n.7161G>T n.330G>T n.374G>T n.916G>T c.2842G>T (p.Glu948Ter) c.2755G>T (p.Glu919Ter) c.1714G>T (p.Glu572Ter) | |
17 | g.46032193C>G | CA399987012 | KANSL1 | c.2944G>C (p.Glu982Gln) c.2941G>C (p.Glu981Gln) c.2752G>C (p.Glu918Gln) n.892G>C c.601G>C (p.Glu201Gln) n.361G>C c.2838-26G>C (n.2838-26G>C) n.7161G>C n.330G>C n.374G>C n.916G>C c.2842G>C (p.Glu948Gln) c.2755G>C (p.Glu919Gln) c.1714G>C (p.Glu572Gln) | |
17 | g.46032193C>T | CA399987013 | KANSL1 | c.2944G>A (p.Glu982Lys) c.2941G>A (p.Glu981Lys) c.2752G>A (p.Glu918Lys) n.892G>A c.601G>A (p.Glu201Lys) n.361G>A c.2838-26G>A (n.2838-26G>A) n.7161G>A n.330G>A n.374G>A n.916G>A c.2842G>A (p.Glu948Lys) c.2755G>A (p.Glu919Lys) c.1714G>A (p.Glu572Lys) | |
17 | g.46032194T>A | CA500372014 | KANSL1 | c.2943A>T (p.Ser981=) c.2940A>T (p.Ser980=) c.2751A>T (p.Ser917=) n.891A>T c.600A>T (p.Ser200=) n.360A>T c.2838-27A>T (n.2838-27A>T) n.7160A>T n.329A>T n.373A>T n.915A>T c.2841A>T (p.Ser947=) c.2754A>T (p.Ser918=) c.1713A>T (p.Ser571=) | |
17 | g.46032194T>C | CA500372015 | KANSL1 | c.2943A>G (p.Ser981=) c.2940A>G (p.Ser980=) c.2751A>G (p.Ser917=) n.891A>G c.600A>G (p.Ser200=) n.360A>G c.2838-27A>G (n.2838-27A>G) n.7160A>G n.329A>G n.373A>G n.915A>G c.2841A>G (p.Ser947=) c.2754A>G (p.Ser918=) c.1713A>G (p.Ser571=) | |
17 | g.46032194T>G | CA500372013 | KANSL1 | c.2943A>C (p.Ser981=) c.2940A>C (p.Ser980=) c.2751A>C (p.Ser917=) n.891A>C c.600A>C (p.Ser200=) n.360A>C c.2838-27A>C (n.2838-27A>C) n.7160A>C n.329A>C n.373A>C n.915A>C c.2841A>C (p.Ser947=) c.2754A>C (p.Ser918=) c.1713A>C (p.Ser571=) | |
17 | g.46032195G>A | CA399987016 | KANSL1 | c.2942C>T (p.Ser981Leu) c.2939C>T (p.Ser980Leu) c.2750C>T (p.Ser917Leu) n.890C>T c.599C>T (p.Ser200Leu) n.359C>T c.2838-28C>T (n.2838-28C>T) n.7159C>T n.328C>T n.372C>T n.914C>T c.2840C>T (p.Ser947Leu) c.2753C>T (p.Ser918Leu) c.1712C>T (p.Ser571Leu) | |
17 | g.46032195G>C | CA399987019 | KANSL1 | c.2942C>G (p.Ser981Ter) c.2939C>G (p.Ser980Ter) c.2750C>G (p.Ser917Ter) n.890C>G c.599C>G (p.Ser200Ter) n.359C>G c.2838-28C>G (n.2838-28C>G) n.7159C>G n.328C>G n.372C>G n.914C>G c.2840C>G (p.Ser947Ter) c.2753C>G (p.Ser918Ter) c.1712C>G (p.Ser571Ter) | |
17 | g.46032195G>T | CA399987027 | KANSL1 | c.2942C>A (p.Ser981Ter) c.2939C>A (p.Ser980Ter) c.2750C>A (p.Ser917Ter) n.890C>A c.599C>A (p.Ser200Ter) n.359C>A c.2838-28C>A (n.2838-28C>A) n.7159C>A n.328C>A n.372C>A n.914C>A c.2840C>A (p.Ser947Ter) c.2753C>A (p.Ser918Ter) c.1712C>A (p.Ser571Ter) | |
17 | g.46032196A= | CA2262111038 | KANSL1 | c.2941T= (p.Ser981=) c.2938T= (p.Ser980=) c.2749T= (p.Ser917=) n.889T= c.598T= (p.Ser200=) n.358T= c.2838-29T= (n.2838-29T=) n.7158T= n.327T= n.371T= n.913T= c.2839T= (p.Ser947=) c.2752T= (p.Ser918=) c.1711T= (p.Ser571=) | |
17 | g.46032196A>C | CA399987031 | KANSL1 | c.2941T>G (p.Ser981Ala) c.2938T>G (p.Ser980Ala) c.2749T>G (p.Ser917Ala) n.889T>G c.598T>G (p.Ser200Ala) n.358T>G c.2838-29T>G (n.2838-29T>G) n.7158T>G n.327T>G n.371T>G n.913T>G c.2839T>G (p.Ser947Ala) c.2752T>G (p.Ser918Ala) c.1711T>G (p.Ser571Ala) | |
17 | g.46032196A>G | CA399987035 | KANSL1 | c.2941T>C (p.Ser981Pro) c.2938T>C (p.Ser980Pro) c.2749T>C (p.Ser917Pro) n.889T>C c.598T>C (p.Ser200Pro) n.358T>C c.2838-29T>C (n.2838-29T>C) n.7158T>C n.327T>C n.371T>C n.913T>C c.2839T>C (p.Ser947Pro) c.2752T>C (p.Ser918Pro) c.1711T>C (p.Ser571Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.46032196A>T | CA399987034 | KANSL1 | c.2941T>A (p.Ser981Thr) c.2938T>A (p.Ser980Thr) c.2749T>A (p.Ser917Thr) n.889T>A c.598T>A (p.Ser200Thr) n.358T>A c.2838-29T>A (n.2838-29T>A) n.7158T>A n.327T>A n.371T>A n.913T>A c.2839T>A (p.Ser947Thr) c.2752T>A (p.Ser918Thr) c.1711T>A (p.Ser571Thr) | |
17 | g.46032197_46032198del | CA2695226190 | KANSL1 | c.2940_2941del (p.Leu980PhefsTer10) c.2937_2938del (p.Leu979PhefsTer10) c.2748_2749del (p.Leu916PhefsTer10) n.888_889del c.597_598del (p.Leu199PhefsTer10) n.357_358del c.2838-30_2838-29del (n.2838-30_2838-29del) n.7157_7158del n.326_327del n.370_371del n.912_913del c.2838_2839del (p.Leu946PhefsTer10) c.2751_2752del (p.Leu917PhefsTer10) c.1710_1711del (p.Leu570PhefsTer10) | |
17 | g.46032197C>A | CA399987036 | KANSL1 | c.2940G>T (p.Leu980Phe) c.2937G>T (p.Leu979Phe) c.2748G>T (p.Leu916Phe) n.888G>T c.597G>T (p.Leu199Phe) n.357G>T c.2838-30G>T (n.2838-30G>T) n.7157G>T n.326G>T n.370G>T n.912G>T c.2838G>T (p.Leu946Phe) c.2751G>T (p.Leu917Phe) c.1710G>T (p.Leu570Phe) | |
17 | g.46032197C= | CA2262111040 | KANSL1 | c.2940G= (p.Leu980=) c.2937G= (p.Leu979=) c.2748G= (p.Leu916=) n.888G= c.597G= (p.Leu199=) n.357G= c.2838-30G= (n.2838-30G=) n.7157G= n.326G= n.370G= n.912G= c.2838G= (p.Leu946=) c.2751G= (p.Leu917=) c.1710G= (p.Leu570=) | |
17 | g.46032197C>G | CA399987037 | KANSL1 | c.2940G>C (p.Leu980Phe) c.2937G>C (p.Leu979Phe) c.2748G>C (p.Leu916Phe) n.888G>C c.597G>C (p.Leu199Phe) n.357G>C c.2838-30G>C (n.2838-30G>C) n.7157G>C n.326G>C n.370G>C n.912G>C c.2838G>C (p.Leu946Phe) c.2751G>C (p.Leu917Phe) c.1710G>C (p.Leu570Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.46032197C>T | CA500372016 | KANSL1 | c.2940G>A (p.Leu980=) c.2937G>A (p.Leu979=) c.2748G>A (p.Leu916=) n.888G>A c.597G>A (p.Leu199=) n.357G>A c.2838-30G>A (n.2838-30G>A) n.7157G>A n.326G>A n.370G>A n.912G>A c.2838G>A (p.Leu946=) c.2751G>A (p.Leu917=) c.1710G>A (p.Leu570=) | gnomAD v4 |
17 | g.46032197_46032199delinsCAA | CA2262111039 | KANSL1 | c.2938_2940delinsTTG (p.Leu980=) c.2935_2937delinsTTG (p.Leu979=) c.2746_2748delinsTTG (p.Leu916=) n.886_888delinsTTG c.595_597delinsTTG (p.Leu199=) n.355_357delinsTTG c.2838-32_2838-30delinsTTG (n.2838-32_2838-30delinsTTG) n.7155_7157delinsTTG n.324_326delinsTTG n.368_370delinsTTG n.910_912delinsTTG c.2836_2838delinsTTG (p.Leu946=) c.2749_2751delinsTTG (p.Leu917=) c.1708_1710delinsTTG (p.Leu570=) | |
17 | g.46032198A= | CA2262111041 | KANSL1 | c.2939T= (p.Leu980=) c.2936T= (p.Leu979=) c.2747T= (p.Leu916=) n.887T= c.596T= (p.Leu199=) n.356T= c.2838-31T= (n.2838-31T=) n.7156T= n.325T= n.369T= n.911T= c.2837T= (p.Leu946=) c.2750T= (p.Leu917=) c.1709T= (p.Leu570=) | |
17 | g.46032198A>C | CA399987039 | KANSL1 | c.2939T>G (p.Leu980Trp) c.2936T>G (p.Leu979Trp) c.2747T>G (p.Leu916Trp) n.887T>G c.596T>G (p.Leu199Trp) n.356T>G c.2838-31T>G (n.2838-31T>G) n.7156T>G n.325T>G n.369T>G n.911T>G c.2837T>G (p.Leu946Trp) c.2750T>G (p.Leu917Trp) c.1709T>G (p.Leu570Trp) | |
17 | g.46032198A>G | CA399987042 | KANSL1 | c.2939T>C (p.Leu980Ser) c.2936T>C (p.Leu979Ser) c.2747T>C (p.Leu916Ser) n.887T>C c.596T>C (p.Leu199Ser) n.356T>C c.2838-31T>C (n.2838-31T>C) n.7156T>C n.325T>C n.369T>C n.911T>C c.2837T>C (p.Leu946Ser) c.2750T>C (p.Leu917Ser) c.1709T>C (p.Leu570Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032198A>T | CA399987046 | KANSL1 | c.2939T>A (p.Leu980Ter) c.2936T>A (p.Leu979Ter) c.2747T>A (p.Leu916Ter) n.887T>A c.596T>A (p.Leu199Ter) n.356T>A c.2838-31T>A (n.2838-31T>A) n.7156T>A n.325T>A n.369T>A n.911T>A c.2837T>A (p.Leu946Ter) c.2750T>A (p.Leu917Ter) c.1709T>A (p.Leu570Ter) | |
17 | g.46032199_46032200del | CA913191107 | KANSL1 | c.2938_2939del (p.Leu980ValfsTer10) c.2935_2936del (p.Leu979ValfsTer10) c.2746_2747del (p.Leu916ValfsTer10) n.886_887del c.595_596del (p.Leu199ValfsTer10) n.355_356del c.2838-32_2838-31del (n.2838-32_2838-31del) n.7155_7156del n.324_325del n.368_369del n.910_911del c.2836_2837del (p.Leu946ValfsTer10) c.2749_2750del (p.Leu917ValfsTer10) c.1708_1709del (p.Leu570ValfsTer10) | ClinVar |
17 | g.46032199A>C | CA399987049 | KANSL1 | c.2938T>G (p.Leu980Val) c.2935T>G (p.Leu979Val) c.2746T>G (p.Leu916Val) n.886T>G c.595T>G (p.Leu199Val) n.355T>G c.2838-32T>G (n.2838-32T>G) n.7155T>G n.324T>G n.368T>G n.910T>G c.2836T>G (p.Leu946Val) c.2749T>G (p.Leu917Val) c.1708T>G (p.Leu570Val) | |
17 | g.46032199A>G | CA500372017 | KANSL1 | c.2938T>C (p.Leu980=) c.2935T>C (p.Leu979=) c.2746T>C (p.Leu916=) n.886T>C c.595T>C (p.Leu199=) n.355T>C c.2838-32T>C (n.2838-32T>C) n.7155T>C n.324T>C n.368T>C n.910T>C c.2836T>C (p.Leu946=) c.2749T>C (p.Leu917=) c.1708T>C (p.Leu570=) | |
17 | g.46032199A>T | CA399987051 | KANSL1 | c.2938T>A (p.Leu980Met) c.2935T>A (p.Leu979Met) c.2746T>A (p.Leu916Met) n.886T>A c.595T>A (p.Leu199Met) n.355T>A c.2838-32T>A (n.2838-32T>A) n.7155T>A n.324T>A n.368T>A n.910T>A c.2836T>A (p.Leu946Met) c.2749T>A (p.Leu917Met) c.1708T>A (p.Leu570Met) | |
17 | g.46032200A>C | CA500372019 | KANSL1 | c.2937T>G (p.Ser979=) c.2934T>G (p.Ser978=) c.2745T>G (p.Ser915=) n.885T>G c.594T>G (p.Ser198=) n.354T>G c.2838-33T>G (n.2838-33T>G) n.7154T>G n.323T>G n.367T>G n.909T>G c.2835T>G (p.Ser945=) c.2748T>G (p.Ser916=) c.1707T>G (p.Ser569=) | |
17 | g.46032200A>G | CA500372020 | KANSL1 | c.2937T>C (p.Ser979=) c.2934T>C (p.Ser978=) c.2745T>C (p.Ser915=) n.885T>C c.594T>C (p.Ser198=) n.354T>C c.2838-33T>C (n.2838-33T>C) n.7154T>C n.323T>C n.367T>C n.909T>C c.2835T>C (p.Ser945=) c.2748T>C (p.Ser916=) c.1707T>C (p.Ser569=) | gnomAD v4 |
17 | g.46032200A>T | CA500372018 | KANSL1 | c.2937T>A (p.Ser979=) c.2934T>A (p.Ser978=) c.2745T>A (p.Ser915=) n.885T>A c.594T>A (p.Ser198=) n.354T>A c.2838-33T>A (n.2838-33T>A) n.7154T>A n.323T>A n.367T>A n.909T>A c.2835T>A (p.Ser945=) c.2748T>A (p.Ser916=) c.1707T>A (p.Ser569=) | |
17 | g.46032201G>A | CA399987054 | KANSL1 | c.2936C>T (p.Ser979Phe) c.2933C>T (p.Ser978Phe) c.2744C>T (p.Ser915Phe) n.884C>T c.593C>T (p.Ser198Phe) n.353C>T c.2838-34C>T (n.2838-34C>T) n.7153C>T n.322C>T n.366C>T n.908C>T c.2834C>T (p.Ser945Phe) c.2747C>T (p.Ser916Phe) c.1706C>T (p.Ser569Phe) | |
17 | g.46032201G>C | CA399987056 | KANSL1 | c.2936C>G (p.Ser979Cys) c.2933C>G (p.Ser978Cys) c.2744C>G (p.Ser915Cys) n.884C>G c.593C>G (p.Ser198Cys) n.353C>G c.2838-34C>G (n.2838-34C>G) n.7153C>G n.322C>G n.366C>G n.908C>G c.2834C>G (p.Ser945Cys) c.2747C>G (p.Ser916Cys) c.1706C>G (p.Ser569Cys) | |
17 | g.46032201G>T | CA399987059 | KANSL1 | c.2936C>A (p.Ser979Tyr) c.2933C>A (p.Ser978Tyr) c.2744C>A (p.Ser915Tyr) n.884C>A c.593C>A (p.Ser198Tyr) n.353C>A c.2838-34C>A (n.2838-34C>A) n.7153C>A n.322C>A n.366C>A n.908C>A c.2834C>A (p.Ser945Tyr) c.2747C>A (p.Ser916Tyr) c.1706C>A (p.Ser569Tyr) | |
17 | g.46032202A>C | CA399987062 | KANSL1 | c.2935T>G (p.Ser979Ala) c.2932T>G (p.Ser978Ala) c.2743T>G (p.Ser915Ala) n.883T>G c.592T>G (p.Ser198Ala) n.352T>G c.2838-35T>G (n.2838-35T>G) n.7152T>G n.321T>G n.365T>G n.907T>G c.2833T>G (p.Ser945Ala) c.2746T>G (p.Ser916Ala) c.1705T>G (p.Ser569Ala) | |
17 | g.46032202A>G | CA399987065 | KANSL1 | c.2935T>C (p.Ser979Pro) c.2932T>C (p.Ser978Pro) c.2743T>C (p.Ser915Pro) n.883T>C c.592T>C (p.Ser198Pro) n.352T>C c.2838-35T>C (n.2838-35T>C) n.7152T>C n.321T>C n.365T>C n.907T>C c.2833T>C (p.Ser945Pro) c.2746T>C (p.Ser916Pro) c.1705T>C (p.Ser569Pro) | |
17 | g.46032202A>T | CA399987063 | KANSL1 | c.2935T>A (p.Ser979Thr) c.2932T>A (p.Ser978Thr) c.2743T>A (p.Ser915Thr) n.883T>A c.592T>A (p.Ser198Thr) n.352T>A c.2838-35T>A (n.2838-35T>A) n.7152T>A n.321T>A n.365T>A n.907T>A c.2833T>A (p.Ser945Thr) c.2746T>A (p.Ser916Thr) c.1705T>A (p.Ser569Thr) | |
17 | g.46032203G>A | CA500372021 | KANSL1 | c.2934C>T (p.His978=) c.2931C>T (p.His977=) c.2742C>T (p.His914=) n.882C>T c.591C>T (p.His197=) n.351C>T c.2838-36C>T (n.2838-36C>T) n.7151C>T n.320C>T n.364C>T n.906C>T c.2832C>T (p.His944=) c.2745C>T (p.His915=) c.1704C>T (p.His568=) | gnomAD v4 |
17 | g.46032203G>C | CA8618413 | KANSL1 | c.2934C>G (p.His978Gln) c.2931C>G (p.His977Gln) c.2742C>G (p.His914Gln) n.882C>G c.591C>G (p.His197Gln) n.351C>G c.2838-36C>G (n.2838-36C>G) n.7151C>G n.320C>G n.364C>G n.906C>G c.2832C>G (p.His944Gln) c.2745C>G (p.His915Gln) c.1704C>G (p.His568Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46032203G= | CA2262111042 | KANSL1 | c.2934C= (p.His978=) c.2931C= (p.His977=) c.2742C= (p.His914=) n.882C= c.591C= (p.His197=) n.351C= c.2838-36C= (n.2838-36C=) n.7151C= n.320C= n.364C= n.906C= c.2832C= (p.His944=) c.2745C= (p.His915=) c.1704C= (p.His568=) | |
17 | g.46032203G>T | CA399987070 | KANSL1 | c.2934C>A (p.His978Gln) c.2931C>A (p.His977Gln) c.2742C>A (p.His914Gln) n.882C>A c.591C>A (p.His197Gln) n.351C>A c.2838-36C>A (n.2838-36C>A) n.7151C>A n.320C>A n.364C>A n.906C>A c.2832C>A (p.His944Gln) c.2745C>A (p.His915Gln) c.1704C>A (p.His568Gln) | |
17 | g.46032204T>A | CA399987072 | KANSL1 | c.2933A>T (p.His978Leu) c.2930A>T (p.His977Leu) c.2741A>T (p.His914Leu) n.881A>T c.590A>T (p.His197Leu) n.350A>T c.2838-37A>T (n.2838-37A>T) n.7150A>T n.319A>T n.363A>T n.905A>T c.2831A>T (p.His944Leu) c.2744A>T (p.His915Leu) c.1703A>T (p.His568Leu) | dbSNP |
17 | g.46032204T>C | CA399987073 | KANSL1 | c.2933A>G (p.His978Arg) c.2930A>G (p.His977Arg) c.2741A>G (p.His914Arg) n.881A>G c.590A>G (p.His197Arg) n.350A>G c.2838-37A>G (n.2838-37A>G) n.7150A>G n.319A>G n.363A>G n.905A>G c.2831A>G (p.His944Arg) c.2744A>G (p.His915Arg) c.1703A>G (p.His568Arg) | |
17 | g.46032204T>G | CA399987074 | KANSL1 | c.2933A>C (p.His978Pro) c.2930A>C (p.His977Pro) c.2741A>C (p.His914Pro) n.881A>C c.590A>C (p.His197Pro) n.350A>C c.2838-37A>C (n.2838-37A>C) n.7150A>C n.319A>C n.363A>C n.905A>C c.2831A>C (p.His944Pro) c.2744A>C (p.His915Pro) c.1703A>C (p.His568Pro) | |
17 | g.46032204T= | CA2262111043 | KANSL1 | c.2933A= (p.His978=) c.2930A= (p.His977=) c.2741A= (p.His914=) n.881A= c.590A= (p.His197=) n.350A= c.2838-37A= (n.2838-37A=) n.7150A= n.319A= n.363A= n.905A= c.2831A= (p.His944=) c.2744A= (p.His915=) c.1703A= (p.His568=) | |
17 | g.46032205G>A | CA399987075 | KANSL1 | c.2932C>T (p.His978Tyr) c.2929C>T (p.His977Tyr) c.2740C>T (p.His914Tyr) n.880C>T c.589C>T (p.His197Tyr) n.349C>T c.2838-38C>T (n.2838-38C>T) n.7149C>T n.318C>T n.362C>T n.904C>T c.2830C>T (p.His944Tyr) c.2743C>T (p.His915Tyr) c.1702C>T (p.His568Tyr) | dbSNP gnomAD v4 |
17 | g.46032205G>C | CA399987077 | KANSL1 | c.2932C>G (p.His978Asp) c.2929C>G (p.His977Asp) c.2740C>G (p.His914Asp) n.880C>G c.589C>G (p.His197Asp) n.349C>G c.2838-38C>G (n.2838-38C>G) n.7149C>G n.318C>G n.362C>G n.904C>G c.2830C>G (p.His944Asp) c.2743C>G (p.His915Asp) c.1702C>G (p.His568Asp) | |
17 | g.46032205G= | CA2262111044 | KANSL1 | c.2932C= (p.His978=) c.2929C= (p.His977=) c.2740C= (p.His914=) n.880C= c.589C= (p.His197=) n.349C= c.2838-38C= (n.2838-38C=) n.7149C= n.318C= n.362C= n.904C= c.2830C= (p.His944=) c.2743C= (p.His915=) c.1702C= (p.His568=) | |
17 | g.46032205G>T | CA399987084 | KANSL1 | c.2932C>A (p.His978Asn) c.2929C>A (p.His977Asn) c.2740C>A (p.His914Asn) n.880C>A c.589C>A (p.His197Asn) n.349C>A c.2838-38C>A (n.2838-38C>A) n.7149C>A n.318C>A n.362C>A n.904C>A c.2830C>A (p.His944Asn) c.2743C>A (p.His915Asn) c.1702C>A (p.His568Asn) | |
17 | g.46032206G>A | CA500372022 | KANSL1 | c.2931C>T (p.Ser977=) c.2928C>T (p.Ser976=) c.2739C>T (p.Ser913=) n.879C>T c.588C>T (p.Ser196=) n.348C>T c.2838-39C>T (n.2838-39C>T) n.7148C>T n.317C>T n.361C>T n.903C>T c.2829C>T (p.Ser943=) c.2742C>T (p.Ser914=) c.1701C>T (p.Ser567=) | ClinVar dbSNP |
17 | g.46032206G>C | CA399987088 | KANSL1 | c.2931C>G (p.Ser977Arg) c.2928C>G (p.Ser976Arg) c.2739C>G (p.Ser913Arg) n.879C>G c.588C>G (p.Ser196Arg) n.348C>G c.2838-39C>G (n.2838-39C>G) n.7148C>G n.317C>G n.361C>G n.903C>G c.2829C>G (p.Ser943Arg) c.2742C>G (p.Ser914Arg) c.1701C>G (p.Ser567Arg) | |
17 | g.46032206G>T | CA399987089 | KANSL1 | c.2931C>A (p.Ser977Arg) c.2928C>A (p.Ser976Arg) c.2739C>A (p.Ser913Arg) n.879C>A c.588C>A (p.Ser196Arg) n.348C>A c.2838-39C>A (n.2838-39C>A) n.7148C>A n.317C>A n.361C>A n.903C>A c.2829C>A (p.Ser943Arg) c.2742C>A (p.Ser914Arg) c.1701C>A (p.Ser567Arg) | |
17 | g.46032207C>A | CA399987091 | KANSL1 | c.2930G>T (p.Ser977Ile) c.2927G>T (p.Ser976Ile) c.2738G>T (p.Ser913Ile) n.878G>T c.587G>T (p.Ser196Ile) n.347G>T c.2838-40G>T (n.2838-40G>T) n.7147G>T n.316G>T n.360G>T n.902G>T c.2828G>T (p.Ser943Ile) c.2741G>T (p.Ser914Ile) c.1700G>T (p.Ser567Ile) | |
17 | g.46032207C>G | CA399987093 | KANSL1 | c.2930G>C (p.Ser977Thr) c.2927G>C (p.Ser976Thr) c.2738G>C (p.Ser913Thr) n.878G>C c.587G>C (p.Ser196Thr) n.347G>C c.2838-40G>C (n.2838-40G>C) n.7147G>C n.316G>C n.360G>C n.902G>C c.2828G>C (p.Ser943Thr) c.2741G>C (p.Ser914Thr) c.1700G>C (p.Ser567Thr) | |
17 | g.46032207C>T | CA399987094 | KANSL1 | c.2930G>A (p.Ser977Asn) c.2927G>A (p.Ser976Asn) c.2738G>A (p.Ser913Asn) n.878G>A c.587G>A (p.Ser196Asn) n.347G>A c.2838-40G>A (n.2838-40G>A) n.7147G>A n.316G>A n.360G>A n.902G>A c.2828G>A (p.Ser943Asn) c.2741G>A (p.Ser914Asn) c.1700G>A (p.Ser567Asn) | gnomAD v4 |
17 | g.46032208T>A | CA399987101 | KANSL1 | c.2929A>T (p.Ser977Cys) c.2926A>T (p.Ser976Cys) c.2737A>T (p.Ser913Cys) n.877A>T c.586A>T (p.Ser196Cys) n.346A>T c.2838-41A>T (n.2838-41A>T) n.7146A>T n.315A>T n.359A>T n.901A>T c.2827A>T (p.Ser943Cys) c.2740A>T (p.Ser914Cys) c.1699A>T (p.Ser567Cys) | |
17 | g.46032208T>C | CA399987096 | KANSL1 | c.2929A>G (p.Ser977Gly) c.2926A>G (p.Ser976Gly) c.2737A>G (p.Ser913Gly) n.877A>G c.586A>G (p.Ser196Gly) n.346A>G c.2838-41A>G (n.2838-41A>G) n.7146A>G n.315A>G n.359A>G n.901A>G c.2827A>G (p.Ser943Gly) c.2740A>G (p.Ser914Gly) c.1699A>G (p.Ser567Gly) | gnomAD v4 |
17 | g.46032208T>G | CA399987099 | KANSL1 | c.2929A>C (p.Ser977Arg) c.2926A>C (p.Ser976Arg) c.2737A>C (p.Ser913Arg) n.877A>C c.586A>C (p.Ser196Arg) n.346A>C c.2838-41A>C (n.2838-41A>C) n.7146A>C n.315A>C n.359A>C n.901A>C c.2827A>C (p.Ser943Arg) c.2740A>C (p.Ser914Arg) c.1699A>C (p.Ser567Arg) | |
17 | g.46032209A>C | CA399987103 | KANSL1 | c.2928T>G (p.Ser976Arg) c.2925T>G (p.Ser975Arg) c.2736T>G (p.Ser912Arg) n.876T>G c.585T>G (p.Ser195Arg) n.345T>G c.2838-42T>G (n.2838-42T>G) n.7145T>G n.314T>G n.358T>G n.900T>G c.2826T>G (p.Ser942Arg) c.2739T>G (p.Ser913Arg) c.1698T>G (p.Ser566Arg) | |
17 | g.46032209A>G | CA500372023 | KANSL1 | c.2928T>C (p.Ser976=) c.2925T>C (p.Ser975=) c.2736T>C (p.Ser912=) n.876T>C c.585T>C (p.Ser195=) n.345T>C c.2838-42T>C (n.2838-42T>C) n.7145T>C n.314T>C n.358T>C n.900T>C c.2826T>C (p.Ser942=) c.2739T>C (p.Ser913=) c.1698T>C (p.Ser566=) | |
17 | g.46032209A>T | CA399987104 | KANSL1 | c.2928T>A (p.Ser976Arg) c.2925T>A (p.Ser975Arg) c.2736T>A (p.Ser912Arg) n.876T>A c.585T>A (p.Ser195Arg) n.345T>A c.2838-42T>A (n.2838-42T>A) n.7145T>A n.314T>A n.358T>A n.900T>A c.2826T>A (p.Ser942Arg) c.2739T>A (p.Ser913Arg) c.1698T>A (p.Ser566Arg) | |
17 | g.46032210C>A | CA8618414 | KANSL1 | c.2927G>T (p.Ser976Ile) c.2924G>T (p.Ser975Ile) c.2735G>T (p.Ser912Ile) n.875G>T c.584G>T (p.Ser195Ile) n.344G>T c.2838-43G>T (n.2838-43G>T) n.7144G>T n.313G>T n.357G>T n.899G>T c.2825G>T (p.Ser942Ile) c.2738G>T (p.Ser913Ile) c.1697G>T (p.Ser566Ile) | dbSNP ExAC gnomAD v2 |
17 | g.46032210C= | CA2262111045 | KANSL1 | c.2927G= (p.Ser976=) c.2924G= (p.Ser975=) c.2735G= (p.Ser912=) n.875G= c.584G= (p.Ser195=) n.344G= c.2838-43G= (n.2838-43G=) n.7144G= n.313G= n.357G= n.899G= c.2825G= (p.Ser942=) c.2738G= (p.Ser913=) c.1697G= (p.Ser566=) | |
17 | g.46032210C>G | CA399987106 | KANSL1 | c.2927G>C (p.Ser976Thr) c.2924G>C (p.Ser975Thr) c.2735G>C (p.Ser912Thr) n.875G>C c.584G>C (p.Ser195Thr) n.344G>C c.2838-43G>C (n.2838-43G>C) n.7144G>C n.313G>C n.357G>C n.899G>C c.2825G>C (p.Ser942Thr) c.2738G>C (p.Ser913Thr) c.1697G>C (p.Ser566Thr) | |
17 | g.46032210C>T | CA399987108 | KANSL1 | c.2927G>A (p.Ser976Asn) c.2924G>A (p.Ser975Asn) c.2735G>A (p.Ser912Asn) n.875G>A c.584G>A (p.Ser195Asn) n.344G>A c.2838-43G>A (n.2838-43G>A) n.7144G>A n.313G>A n.357G>A n.899G>A c.2825G>A (p.Ser942Asn) c.2738G>A (p.Ser913Asn) c.1697G>A (p.Ser566Asn) | gnomAD v4 |
17 | g.46032211T>A | CA8618415 | KANSL1 | c.2926A>T (p.Ser976Cys) c.2923A>T (p.Ser975Cys) c.2734A>T (p.Ser912Cys) n.874A>T c.583A>T (p.Ser195Cys) n.343A>T c.2838-44A>T (n.2838-44A>T) n.7143A>T n.312A>T n.356A>T n.898A>T c.2824A>T (p.Ser942Cys) c.2737A>T (p.Ser913Cys) c.1696A>T (p.Ser566Cys) | dbSNP ExAC gnomAD v2 |
17 | g.46032211T>C | CA399987112 | KANSL1 | c.2926A>G (p.Ser976Gly) c.2923A>G (p.Ser975Gly) c.2734A>G (p.Ser912Gly) n.874A>G c.583A>G (p.Ser195Gly) n.343A>G c.2838-44A>G (n.2838-44A>G) n.7143A>G n.312A>G n.356A>G n.898A>G c.2824A>G (p.Ser942Gly) c.2737A>G (p.Ser913Gly) c.1696A>G (p.Ser566Gly) | gnomAD v4 |
17 | g.46032211T>G | CA399987113 | KANSL1 | c.2926A>C (p.Ser976Arg) c.2923A>C (p.Ser975Arg) c.2734A>C (p.Ser912Arg) n.874A>C c.583A>C (p.Ser195Arg) n.343A>C c.2838-44A>C (n.2838-44A>C) n.7143A>C n.312A>C n.356A>C n.898A>C c.2824A>C (p.Ser942Arg) c.2737A>C (p.Ser913Arg) c.1696A>C (p.Ser566Arg) | |
17 | g.46032211T= | CA2262111046 | KANSL1 | c.2926A= (p.Ser976=) c.2923A= (p.Ser975=) c.2734A= (p.Ser912=) n.874A= c.583A= (p.Ser195=) n.343A= c.2838-44A= (n.2838-44A=) n.7143A= n.312A= n.356A= n.898A= c.2824A= (p.Ser942=) c.2737A= (p.Ser913=) c.1696A= (p.Ser566=) | |
17 | g.46032212G>A | CA8618416 | KANSL1 | c.2925C>T (p.Ser975=) c.2922C>T (p.Ser974=) c.2733C>T (p.Ser911=) n.873C>T c.582C>T (p.Ser194=) n.342C>T c.2838-45C>T (n.2838-45C>T) n.7142C>T n.311C>T n.355C>T n.897C>T c.2823C>T (p.Ser941=) c.2736C>T (p.Ser912=) c.1695C>T (p.Ser565=) | dbSNP ExAC gnomAD v2 |
17 | g.46032212G>C | CA399987116 | KANSL1 | c.2925C>G (p.Ser975Arg) c.2922C>G (p.Ser974Arg) c.2733C>G (p.Ser911Arg) n.873C>G c.582C>G (p.Ser194Arg) n.342C>G c.2838-45C>G (n.2838-45C>G) n.7142C>G n.311C>G n.355C>G n.897C>G c.2823C>G (p.Ser941Arg) c.2736C>G (p.Ser912Arg) c.1695C>G (p.Ser565Arg) | |
17 | g.46032212G= | CA2262111047 | KANSL1 | c.2925C= (p.Ser975=) c.2922C= (p.Ser974=) c.2733C= (p.Ser911=) n.873C= c.582C= (p.Ser194=) n.342C= c.2838-45C= (n.2838-45C=) n.7142C= n.311C= n.355C= n.897C= c.2823C= (p.Ser941=) c.2736C= (p.Ser912=) c.1695C= (p.Ser565=) | |
17 | g.46032212G>T | CA399987118 | KANSL1 | c.2925C>A (p.Ser975Arg) c.2922C>A (p.Ser974Arg) c.2733C>A (p.Ser911Arg) n.873C>A c.582C>A (p.Ser194Arg) n.342C>A c.2838-45C>A (n.2838-45C>A) n.7142C>A n.311C>A n.355C>A n.897C>A c.2823C>A (p.Ser941Arg) c.2736C>A (p.Ser912Arg) c.1695C>A (p.Ser565Arg) | |
17 | g.46032213C>A | CA399987122 | KANSL1 | c.2924G>T (p.Ser975Ile) c.2921G>T (p.Ser974Ile) c.2732G>T (p.Ser911Ile) n.872G>T c.581G>T (p.Ser194Ile) n.341G>T c.2838-46G>T (n.2838-46G>T) n.7141G>T n.310G>T n.354G>T n.896G>T c.2822G>T (p.Ser941Ile) c.2735G>T (p.Ser912Ile) c.1694G>T (p.Ser565Ile) | gnomAD v4 |
17 | g.46032213C>G | CA399987123 | KANSL1 | c.2924G>C (p.Ser975Thr) c.2921G>C (p.Ser974Thr) c.2732G>C (p.Ser911Thr) n.872G>C c.581G>C (p.Ser194Thr) n.341G>C c.2838-46G>C (n.2838-46G>C) n.7141G>C n.310G>C n.354G>C n.896G>C c.2822G>C (p.Ser941Thr) c.2735G>C (p.Ser912Thr) c.1694G>C (p.Ser565Thr) | |
17 | g.46032213C>T | CA399987120 | KANSL1 | c.2924G>A (p.Ser975Asn) c.2921G>A (p.Ser974Asn) c.2732G>A (p.Ser911Asn) n.872G>A c.581G>A (p.Ser194Asn) n.341G>A c.2838-46G>A (n.2838-46G>A) n.7141G>A n.310G>A n.354G>A n.896G>A c.2822G>A (p.Ser941Asn) c.2735G>A (p.Ser912Asn) c.1694G>A (p.Ser565Asn) | |
17 | g.46032214T>A | CA399987125 | KANSL1 | c.2923A>T (p.Ser975Cys) c.2920A>T (p.Ser974Cys) c.2731A>T (p.Ser911Cys) n.871A>T c.580A>T (p.Ser194Cys) n.340A>T c.2838-47A>T (n.2838-47A>T) n.7140A>T n.309A>T n.353A>T n.895A>T c.2821A>T (p.Ser941Cys) c.2734A>T (p.Ser912Cys) c.1693A>T (p.Ser565Cys) | |
17 | g.46032214T>C | CA399987127 | KANSL1 | c.2923A>G (p.Ser975Gly) c.2920A>G (p.Ser974Gly) c.2731A>G (p.Ser911Gly) n.871A>G c.580A>G (p.Ser194Gly) n.340A>G c.2838-47A>G (n.2838-47A>G) n.7140A>G n.309A>G n.353A>G n.895A>G c.2821A>G (p.Ser941Gly) c.2734A>G (p.Ser912Gly) c.1693A>G (p.Ser565Gly) | |
17 | g.46032214T>G | CA399987129 | KANSL1 | c.2923A>C (p.Ser975Arg) c.2920A>C (p.Ser974Arg) c.2731A>C (p.Ser911Arg) n.871A>C c.580A>C (p.Ser194Arg) n.340A>C c.2838-47A>C (n.2838-47A>C) n.7140A>C n.309A>C n.353A>C n.895A>C c.2821A>C (p.Ser941Arg) c.2734A>C (p.Ser912Arg) c.1693A>C (p.Ser565Arg) | |
17 | g.46032215G>A | CA500372025 | KANSL1 | c.2922C>T (p.Val974=) c.2919C>T (p.Val973=) c.2730C>T (p.Val910=) n.870C>T c.579C>T (p.Val193=) n.339C>T c.2838-48C>T (n.2838-48C>T) n.7139C>T n.308C>T n.352C>T n.894C>T c.2820C>T (p.Val940=) c.2733C>T (p.Val911=) c.1692C>T (p.Val564=) | |
17 | g.46032215G>C | CA500372026 | KANSL1 | c.2922C>G (p.Val974=) c.2919C>G (p.Val973=) c.2730C>G (p.Val910=) n.870C>G c.579C>G (p.Val193=) n.339C>G c.2838-48C>G (n.2838-48C>G) n.7139C>G n.308C>G n.352C>G n.894C>G c.2820C>G (p.Val940=) c.2733C>G (p.Val911=) c.1692C>G (p.Val564=) | |
17 | g.46032215G>T | CA500372024 | KANSL1 | c.2922C>A (p.Val974=) c.2919C>A (p.Val973=) c.2730C>A (p.Val910=) n.870C>A c.579C>A (p.Val193=) n.339C>A c.2838-48C>A (n.2838-48C>A) n.7139C>A n.308C>A n.352C>A n.894C>A c.2820C>A (p.Val940=) c.2733C>A (p.Val911=) c.1692C>A (p.Val564=) | |
17 | g.46032216A>C | CA399987131 | KANSL1 | c.2921T>G (p.Val974Gly) c.2918T>G (p.Val973Gly) c.2729T>G (p.Val910Gly) n.869T>G c.578T>G (p.Val193Gly) n.338T>G c.2838-49T>G (n.2838-49T>G) n.7138T>G n.307T>G n.351T>G n.893T>G c.2819T>G (p.Val940Gly) c.2732T>G (p.Val911Gly) c.1691T>G (p.Val564Gly) | |
17 | g.46032216A>G | CA399987133 | KANSL1 | c.2921T>C (p.Val974Ala) c.2918T>C (p.Val973Ala) c.2729T>C (p.Val910Ala) n.869T>C c.578T>C (p.Val193Ala) n.338T>C c.2838-49T>C (n.2838-49T>C) n.7138T>C n.307T>C n.351T>C n.893T>C c.2819T>C (p.Val940Ala) c.2732T>C (p.Val911Ala) c.1691T>C (p.Val564Ala) | |
17 | g.46032216A>T | CA399987135 | KANSL1 | c.2921T>A (p.Val974Asp) c.2918T>A (p.Val973Asp) c.2729T>A (p.Val910Asp) n.869T>A c.578T>A (p.Val193Asp) n.338T>A c.2838-49T>A (n.2838-49T>A) n.7138T>A n.307T>A n.351T>A n.893T>A c.2819T>A (p.Val940Asp) c.2732T>A (p.Val911Asp) c.1691T>A (p.Val564Asp) | |
17 | g.46032217C>A | CA399987137 | KANSL1 | c.2920G>T (p.Val974Phe) c.2917G>T (p.Val973Phe) c.2728G>T (p.Val910Phe) n.868G>T c.577G>T (p.Val193Phe) n.337G>T c.2838-50G>T (n.2838-50G>T) n.7137G>T n.306G>T n.350G>T n.892G>T c.2818G>T (p.Val940Phe) c.2731G>T (p.Val911Phe) c.1690G>T (p.Val564Phe) | |
17 | g.46032217C>G | CA399987138 | KANSL1 | c.2920G>C (p.Val974Leu) c.2917G>C (p.Val973Leu) c.2728G>C (p.Val910Leu) n.868G>C c.577G>C (p.Val193Leu) n.337G>C c.2838-50G>C (n.2838-50G>C) n.7137G>C n.306G>C n.350G>C n.892G>C c.2818G>C (p.Val940Leu) c.2731G>C (p.Val911Leu) c.1690G>C (p.Val564Leu) | |
17 | g.46032217C>T | CA399987139 | KANSL1 | c.2920G>A (p.Val974Ile) c.2917G>A (p.Val973Ile) c.2728G>A (p.Val910Ile) n.868G>A c.577G>A (p.Val193Ile) n.337G>A c.2838-50G>A (n.2838-50G>A) n.7137G>A n.306G>A n.350G>A n.892G>A c.2818G>A (p.Val940Ile) c.2731G>A (p.Val911Ile) c.1690G>A (p.Val564Ile) | |
17 | g.46032218A= | CA2262111048 | KANSL1 | c.2919T= (p.Asp973=) c.2916T= (p.Asp972=) c.2727T= (p.Asp909=) n.867T= c.576T= (p.Asp192=) n.336T= c.2838-51T= (n.2838-51T=) n.7136T= n.305T= n.349T= n.891T= c.2817T= (p.Asp939=) c.2730T= (p.Asp910=) c.1689T= (p.Asp563=) | |
17 | g.46032218A>C | CA8618417 | KANSL1 | c.2919T>G (p.Asp973Glu) c.2916T>G (p.Asp972Glu) c.2727T>G (p.Asp909Glu) n.867T>G c.576T>G (p.Asp192Glu) n.336T>G c.2838-51T>G (n.2838-51T>G) n.7136T>G n.305T>G n.349T>G n.891T>G c.2817T>G (p.Asp939Glu) c.2730T>G (p.Asp910Glu) c.1689T>G (p.Asp563Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46032218A>G | CA500372028 | KANSL1 | c.2919T>C (p.Asp973=) c.2916T>C (p.Asp972=) c.2727T>C (p.Asp909=) n.867T>C c.576T>C (p.Asp192=) n.336T>C c.2838-51T>C (n.2838-51T>C) n.7136T>C n.305T>C n.349T>C n.891T>C c.2817T>C (p.Asp939=) c.2730T>C (p.Asp910=) c.1689T>C (p.Asp563=) | ClinVar |
17 | g.46032218A>T | CA399987142 | KANSL1 | c.2919T>A (p.Asp973Glu) c.2916T>A (p.Asp972Glu) c.2727T>A (p.Asp909Glu) n.867T>A c.576T>A (p.Asp192Glu) n.336T>A c.2838-51T>A (n.2838-51T>A) n.7136T>A n.305T>A n.349T>A n.891T>A c.2817T>A (p.Asp939Glu) c.2730T>A (p.Asp910Glu) c.1689T>A (p.Asp563Glu) | |
17 | g.46032219T>A | CA399987146 | KANSL1 | c.2918A>T (p.Asp973Val) c.2915A>T (p.Asp972Val) c.2726A>T (p.Asp909Val) n.866A>T c.575A>T (p.Asp192Val) n.335A>T c.2838-52A>T (n.2838-52A>T) n.7135A>T n.304A>T n.348A>T n.890A>T c.2816A>T (p.Asp939Val) c.2729A>T (p.Asp910Val) c.1688A>T (p.Asp563Val) | |
17 | g.46032219T>C | CA399987152 | KANSL1 | c.2918A>G (p.Asp973Gly) c.2915A>G (p.Asp972Gly) c.2726A>G (p.Asp909Gly) n.866A>G c.575A>G (p.Asp192Gly) n.335A>G c.2838-52A>G (n.2838-52A>G) n.7135A>G n.304A>G n.348A>G n.890A>G c.2816A>G (p.Asp939Gly) c.2729A>G (p.Asp910Gly) c.1688A>G (p.Asp563Gly) | |
17 | g.46032219T>G | CA399987144 | KANSL1 | c.2918A>C (p.Asp973Ala) c.2915A>C (p.Asp972Ala) c.2726A>C (p.Asp909Ala) n.866A>C c.575A>C (p.Asp192Ala) n.335A>C c.2838-52A>C (n.2838-52A>C) n.7135A>C n.304A>C n.348A>C n.890A>C c.2816A>C (p.Asp939Ala) c.2729A>C (p.Asp910Ala) c.1688A>C (p.Asp563Ala) | |
17 | g.46032220C>A | CA399987154 | KANSL1 | c.2917G>T (p.Asp973Tyr) c.2914G>T (p.Asp972Tyr) c.2725G>T (p.Asp909Tyr) n.745G>T n.865G>T c.574G>T (p.Asp192Tyr) n.334G>T c.2838-53G>T (n.2838-53G>T) n.7134G>T n.303G>T n.347G>T n.889G>T c.2815G>T (p.Asp939Tyr) c.2728G>T (p.Asp910Tyr) c.1687G>T (p.Asp563Tyr) | gnomAD v4 |
17 | g.46032220C>G | CA399987156 | KANSL1 | c.2917G>C (p.Asp973His) c.2914G>C (p.Asp972His) c.2725G>C (p.Asp909His) n.745G>C n.865G>C c.574G>C (p.Asp192His) n.334G>C c.2838-53G>C (n.2838-53G>C) n.7134G>C n.303G>C n.347G>C n.889G>C c.2815G>C (p.Asp939His) c.2728G>C (p.Asp910His) c.1687G>C (p.Asp563His) | |
17 | g.46032220C>T | CA399987157 | KANSL1 | c.2917G>A (p.Asp973Asn) c.2914G>A (p.Asp972Asn) c.2725G>A (p.Asp909Asn) n.745G>A n.865G>A c.574G>A (p.Asp192Asn) n.334G>A c.2838-53G>A (n.2838-53G>A) n.7134G>A n.303G>A n.347G>A n.889G>A c.2815G>A (p.Asp939Asn) c.2728G>A (p.Asp910Asn) c.1687G>A (p.Asp563Asn) | |
17 | g.46032221A>C | CA500372030 | KANSL1 | c.2916T>G (p.Pro972=) c.2913T>G (p.Pro971=) c.2724T>G (p.Pro908=) n.744T>G n.864T>G c.573T>G (p.Pro191=) n.333T>G c.2838-54T>G (n.2838-54T>G) n.7133T>G n.302T>G n.346T>G n.888T>G c.2814T>G (p.Pro938=) c.2727T>G (p.Pro909=) c.1686T>G (p.Pro562=) | |
17 | g.46032221A>G | CA500372029 | KANSL1 | c.2916T>C (p.Pro972=) c.2913T>C (p.Pro971=) c.2724T>C (p.Pro908=) n.744T>C n.864T>C c.573T>C (p.Pro191=) n.333T>C c.2838-54T>C (n.2838-54T>C) n.7133T>C n.302T>C n.346T>C n.888T>C c.2814T>C (p.Pro938=) c.2727T>C (p.Pro909=) c.1686T>C (p.Pro562=) | ClinVar |
17 | g.46032221A>T | CA500372031 | KANSL1 | c.2916T>A (p.Pro972=) c.2913T>A (p.Pro971=) c.2724T>A (p.Pro908=) n.744T>A n.864T>A c.573T>A (p.Pro191=) n.333T>A c.2838-54T>A (n.2838-54T>A) n.7133T>A n.302T>A n.346T>A n.888T>A c.2814T>A (p.Pro938=) c.2727T>A (p.Pro909=) c.1686T>A (p.Pro562=) | |
17 | g.46032222G>A | CA399987159 | KANSL1 | c.2915C>T (p.Pro972Leu) c.2912C>T (p.Pro971Leu) c.2723C>T (p.Pro908Leu) n.743C>T n.863C>T c.572C>T (p.Pro191Leu) n.332C>T c.2838-55C>T (n.2838-55C>T) n.7132C>T n.301C>T n.345C>T n.887C>T c.2813C>T (p.Pro938Leu) c.2726C>T (p.Pro909Leu) c.1685C>T (p.Pro562Leu) | gnomAD v4 |
17 | g.46032222G>C | CA399987161 | KANSL1 | c.2915C>G (p.Pro972Arg) c.2912C>G (p.Pro971Arg) c.2723C>G (p.Pro908Arg) n.743C>G n.863C>G c.572C>G (p.Pro191Arg) n.332C>G c.2838-55C>G (n.2838-55C>G) n.7132C>G n.301C>G n.345C>G n.887C>G c.2813C>G (p.Pro938Arg) c.2726C>G (p.Pro909Arg) c.1685C>G (p.Pro562Arg) | |
17 | g.46032222G>T | CA399987162 | KANSL1 | c.2915C>A (p.Pro972His) c.2912C>A (p.Pro971His) c.2723C>A (p.Pro908His) n.743C>A n.863C>A c.572C>A (p.Pro191His) n.332C>A c.2838-55C>A (n.2838-55C>A) n.7132C>A n.301C>A n.345C>A n.887C>A c.2813C>A (p.Pro938His) c.2726C>A (p.Pro909His) c.1685C>A (p.Pro562His) | |
17 | g.46032223G>A | CA399987166 | KANSL1 | c.2914C>T (p.Pro972Ser) c.2911C>T (p.Pro971Ser) c.2722C>T (p.Pro908Ser) n.742C>T n.862C>T c.571C>T (p.Pro191Ser) n.331C>T c.2838-56C>T (n.2838-56C>T) n.7131C>T n.300C>T n.344C>T n.886C>T c.2812C>T (p.Pro938Ser) c.2725C>T (p.Pro909Ser) c.1684C>T (p.Pro562Ser) | |
17 | g.46032223G>C | CA399987169 | KANSL1 | c.2914C>G (p.Pro972Ala) c.2911C>G (p.Pro971Ala) c.2722C>G (p.Pro908Ala) n.742C>G n.862C>G c.571C>G (p.Pro191Ala) n.331C>G c.2838-56C>G (n.2838-56C>G) n.7131C>G n.300C>G n.344C>G n.886C>G c.2812C>G (p.Pro938Ala) c.2725C>G (p.Pro909Ala) c.1684C>G (p.Pro562Ala) | |
17 | g.46032223G>T | CA399987167 | KANSL1 | c.2914C>A (p.Pro972Thr) c.2911C>A (p.Pro971Thr) c.2722C>A (p.Pro908Thr) n.742C>A n.862C>A c.571C>A (p.Pro191Thr) n.331C>A c.2838-56C>A (n.2838-56C>A) n.7131C>A n.300C>A n.344C>A n.886C>A c.2812C>A (p.Pro938Thr) c.2725C>A (p.Pro909Thr) c.1684C>A (p.Pro562Thr) | |
17 | g.46032224G>A | CA500372032 | KANSL1 | c.2913C>T (p.Ser971=) c.2910C>T (p.Ser970=) c.2721C>T (p.Ser907=) n.741C>T n.861C>T c.570C>T (p.Ser190=) n.330C>T c.2838-57C>T (n.2838-57C>T) n.7130C>T n.299C>T n.343C>T n.885C>T c.2811C>T (p.Ser937=) c.2724C>T (p.Ser908=) c.1683C>T (p.Ser561=) | dbSNP gnomAD v2 |
17 | g.46032224G>C | CA500372033 | KANSL1 | c.2913C>G (p.Ser971=) c.2910C>G (p.Ser970=) c.2721C>G (p.Ser907=) n.741C>G n.861C>G c.570C>G (p.Ser190=) n.330C>G c.2838-57C>G (n.2838-57C>G) n.7130C>G n.299C>G n.343C>G n.885C>G c.2811C>G (p.Ser937=) c.2724C>G (p.Ser908=) c.1683C>G (p.Ser561=) | |
17 | g.46032224G= | CA2262111049 | KANSL1 | c.2913C= (p.Ser971=) c.2910C= (p.Ser970=) c.2721C= (p.Ser907=) n.741C= n.861C= c.570C= (p.Ser190=) n.330C= c.2838-57C= (n.2838-57C=) n.7130C= n.299C= n.343C= n.885C= c.2811C= (p.Ser937=) c.2724C= (p.Ser908=) c.1683C= (p.Ser561=) | |
17 | g.46032224G>T | CA8618418 | KANSL1 | c.2913C>A (p.Ser971=) c.2910C>A (p.Ser970=) c.2721C>A (p.Ser907=) n.741C>A n.861C>A c.570C>A (p.Ser190=) n.330C>A c.2838-57C>A (n.2838-57C>A) n.7130C>A n.299C>A n.343C>A n.885C>A c.2811C>A (p.Ser937=) c.2724C>A (p.Ser908=) c.1683C>A (p.Ser561=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032225G>A | CA399987171 | KANSL1 | c.2912C>T (p.Ser971Phe) c.2909C>T (p.Ser970Phe) c.2720C>T (p.Ser907Phe) n.740C>T n.860C>T c.569C>T (p.Ser190Phe) n.329C>T c.2838-58C>T (n.2838-58C>T) n.7129C>T n.298C>T n.342C>T n.884C>T c.2810C>T (p.Ser937Phe) c.2723C>T (p.Ser908Phe) c.1682C>T (p.Ser561Phe) | dbSNP |
17 | g.46032225G>C | CA399987172 | KANSL1 | c.2912C>G (p.Ser971Cys) c.2909C>G (p.Ser970Cys) c.2720C>G (p.Ser907Cys) n.740C>G n.860C>G c.569C>G (p.Ser190Cys) n.329C>G c.2838-58C>G (n.2838-58C>G) n.7129C>G n.298C>G n.342C>G n.884C>G c.2810C>G (p.Ser937Cys) c.2723C>G (p.Ser908Cys) c.1682C>G (p.Ser561Cys) | |
17 | g.46032225G= | CA2262111050 | KANSL1 | c.2912C= (p.Ser971=) c.2909C= (p.Ser970=) c.2720C= (p.Ser907=) n.740C= n.860C= c.569C= (p.Ser190=) n.329C= c.2838-58C= (n.2838-58C=) n.7129C= n.298C= n.342C= n.884C= c.2810C= (p.Ser937=) c.2723C= (p.Ser908=) c.1682C= (p.Ser561=) | |
17 | g.46032225G>T | CA399987173 | KANSL1 | c.2912C>A (p.Ser971Tyr) c.2909C>A (p.Ser970Tyr) c.2720C>A (p.Ser907Tyr) n.740C>A n.860C>A c.569C>A (p.Ser190Tyr) n.329C>A c.2838-58C>A (n.2838-58C>A) n.7129C>A n.298C>A n.342C>A n.884C>A c.2810C>A (p.Ser937Tyr) c.2723C>A (p.Ser908Tyr) c.1682C>A (p.Ser561Tyr) | gnomAD v4 |
17 | g.46032226A= | CA2262111051 | KANSL1 | c.2911T= (p.Ser971=) c.2908T= (p.Ser970=) c.2719T= (p.Ser907=) n.739T= n.859T= c.568T= (p.Ser190=) n.328T= c.2838-59T= (n.2838-59T=) n.7128T= n.297T= n.341T= n.883T= c.2809T= (p.Ser937=) c.2722T= (p.Ser908=) c.1681T= (p.Ser561=) | |
17 | g.46032226A>C | CA399987178 | KANSL1 | c.2911T>G (p.Ser971Ala) c.2908T>G (p.Ser970Ala) c.2719T>G (p.Ser907Ala) n.739T>G n.859T>G c.568T>G (p.Ser190Ala) n.328T>G c.2838-59T>G (n.2838-59T>G) n.7128T>G n.297T>G n.341T>G n.883T>G c.2809T>G (p.Ser937Ala) c.2722T>G (p.Ser908Ala) c.1681T>G (p.Ser561Ala) | |
17 | g.46032226A>G | CA399987177 | KANSL1 | c.2911T>C (p.Ser971Pro) c.2908T>C (p.Ser970Pro) c.2719T>C (p.Ser907Pro) n.739T>C n.859T>C c.568T>C (p.Ser190Pro) n.328T>C c.2838-59T>C (n.2838-59T>C) n.7128T>C n.297T>C n.341T>C n.883T>C c.2809T>C (p.Ser937Pro) c.2722T>C (p.Ser908Pro) c.1681T>C (p.Ser561Pro) | |
17 | g.46032226A>T | CA399987175 | KANSL1 | c.2911T>A (p.Ser971Thr) c.2908T>A (p.Ser970Thr) c.2719T>A (p.Ser907Thr) n.739T>A n.859T>A c.568T>A (p.Ser190Thr) n.328T>A c.2838-59T>A (n.2838-59T>A) n.7128T>A n.297T>A n.341T>A n.883T>A c.2809T>A (p.Ser937Thr) c.2722T>A (p.Ser908Thr) c.1681T>A (p.Ser561Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46032227G>A | CA500372034 | KANSL1 | c.2910C>T (p.Ala970=) c.2907C>T (p.Ala969=) c.2718C>T (p.Ala906=) n.738C>T n.858C>T c.567C>T (p.Ala189=) n.327C>T c.2838-60C>T (n.2838-60C>T) n.7127C>T n.296C>T n.340C>T n.882C>T c.2808C>T (p.Ala936=) c.2721C>T (p.Ala907=) c.1680C>T (p.Ala560=) | gnomAD v4 |
17 | g.46032227G>C | CA8618419 | KANSL1 | c.2910C>G (p.Ala970=) c.2907C>G (p.Ala969=) c.2718C>G (p.Ala906=) n.738C>G n.858C>G c.567C>G (p.Ala189=) n.327C>G c.2838-60C>G (n.2838-60C>G) n.7127C>G n.296C>G n.340C>G n.882C>G c.2808C>G (p.Ala936=) c.2721C>G (p.Ala907=) c.1680C>G (p.Ala560=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46032227G= | CA2262111052 | KANSL1 | c.2910C= (p.Ala970=) c.2907C= (p.Ala969=) c.2718C= (p.Ala906=) n.738C= n.858C= c.567C= (p.Ala189=) n.327C= c.2838-60C= (n.2838-60C=) n.7127C= n.296C= n.340C= n.882C= c.2808C= (p.Ala936=) c.2721C= (p.Ala907=) c.1680C= (p.Ala560=) | |
17 | g.46032227G>T | CA500372035 | KANSL1 | c.2910C>A (p.Ala970=) c.2907C>A (p.Ala969=) c.2718C>A (p.Ala906=) n.738C>A n.858C>A c.567C>A (p.Ala189=) n.327C>A c.2838-60C>A (n.2838-60C>A) n.7127C>A n.296C>A n.340C>A n.882C>A c.2808C>A (p.Ala936=) c.2721C>A (p.Ala907=) c.1680C>A (p.Ala560=) | |
17 | g.46032228G>A | CA399987183 | KANSL1 | c.2909C>T (p.Ala970Val) c.2906C>T (p.Ala969Val) c.2717C>T (p.Ala906Val) n.737C>T n.857C>T c.566C>T (p.Ala189Val) n.326C>T c.2838-61C>T (n.2838-61C>T) n.7126C>T n.295C>T n.339C>T n.881C>T c.2807C>T (p.Ala936Val) c.2720C>T (p.Ala907Val) c.1679C>T (p.Ala560Val) | gnomAD v4 |
17 | g.46032228G>C | CA399987180 | KANSL1 | c.2909C>G (p.Ala970Gly) c.2906C>G (p.Ala969Gly) c.2717C>G (p.Ala906Gly) n.737C>G n.857C>G c.566C>G (p.Ala189Gly) n.326C>G c.2838-61C>G (n.2838-61C>G) n.7126C>G n.295C>G n.339C>G n.881C>G c.2807C>G (p.Ala936Gly) c.2720C>G (p.Ala907Gly) c.1679C>G (p.Ala560Gly) | |
17 | g.46032228G>T | CA399987181 | KANSL1 | c.2909C>A (p.Ala970Asp) c.2906C>A (p.Ala969Asp) c.2717C>A (p.Ala906Asp) n.737C>A n.857C>A c.566C>A (p.Ala189Asp) n.326C>A c.2838-61C>A (n.2838-61C>A) n.7126C>A n.295C>A n.339C>A n.881C>A c.2807C>A (p.Ala936Asp) c.2720C>A (p.Ala907Asp) c.1679C>A (p.Ala560Asp) | gnomAD v4 |
17 | g.46032229C>A | CA399987186 | KANSL1 | c.2908G>T (p.Ala970Ser) c.2905G>T (p.Ala969Ser) c.2716G>T (p.Ala906Ser) n.736G>T n.856G>T c.565G>T (p.Ala189Ser) n.325G>T c.2838-62G>T (n.2838-62G>T) n.7125G>T n.294G>T n.338G>T n.880G>T c.2806G>T (p.Ala936Ser) c.2719G>T (p.Ala907Ser) c.1678G>T (p.Ala560Ser) | gnomAD v4 |
17 | g.46032229C= | CA2262111053 | KANSL1 | c.2908G= (p.Ala970=) c.2905G= (p.Ala969=) c.2716G= (p.Ala906=) n.736G= n.856G= c.565G= (p.Ala189=) n.325G= c.2838-62G= (n.2838-62G=) n.7125G= n.294G= n.338G= n.880G= c.2806G= (p.Ala936=) c.2719G= (p.Ala907=) c.1678G= (p.Ala560=) | |
17 | g.46032229C>G | CA399987188 | KANSL1 | c.2908G>C (p.Ala970Pro) c.2905G>C (p.Ala969Pro) c.2716G>C (p.Ala906Pro) n.736G>C n.856G>C c.565G>C (p.Ala189Pro) n.325G>C c.2838-62G>C (n.2838-62G>C) n.7125G>C n.294G>C n.338G>C n.880G>C c.2806G>C (p.Ala936Pro) c.2719G>C (p.Ala907Pro) c.1678G>C (p.Ala560Pro) | |
17 | g.46032229C>T | CA291125965 | KANSL1 | c.2908G>A (p.Ala970Thr) c.2905G>A (p.Ala969Thr) c.2716G>A (p.Ala906Thr) n.736G>A n.856G>A c.565G>A (p.Ala189Thr) n.325G>A c.2838-62G>A (n.2838-62G>A) n.7125G>A n.294G>A n.338G>A n.880G>A c.2806G>A (p.Ala936Thr) c.2719G>A (p.Ala907Thr) c.1678G>A (p.Ala560Thr) | dbSNP gnomAD v4 |
17 | g.46032230A>C | CA500372036 | KANSL1 | c.2907T>G (p.Pro969=) c.2904T>G (p.Pro968=) c.2715T>G (p.Pro905=) n.735T>G n.855T>G c.564T>G (p.Pro188=) n.324T>G c.2838-63T>G (n.2838-63T>G) n.7124T>G n.293T>G n.337T>G n.879T>G c.2805T>G (p.Pro935=) c.2718T>G (p.Pro906=) c.1677T>G (p.Pro559=) | |
17 | g.46032230A>G | CA500372037 | KANSL1 | c.2907T>C (p.Pro969=) c.2904T>C (p.Pro968=) c.2715T>C (p.Pro905=) n.735T>C n.855T>C c.564T>C (p.Pro188=) n.324T>C c.2838-63T>C (n.2838-63T>C) n.7124T>C n.293T>C n.337T>C n.879T>C c.2805T>C (p.Pro935=) c.2718T>C (p.Pro906=) c.1677T>C (p.Pro559=) | COSMIC |
17 | g.46032230A>T | CA500372038 | KANSL1 | c.2907T>A (p.Pro969=) c.2904T>A (p.Pro968=) c.2715T>A (p.Pro905=) n.735T>A n.855T>A c.564T>A (p.Pro188=) n.324T>A c.2838-63T>A (n.2838-63T>A) n.7124T>A n.293T>A n.337T>A n.879T>A c.2805T>A (p.Pro935=) c.2718T>A (p.Pro906=) c.1677T>A (p.Pro559=) | |
17 | g.46032231G>A | CA399987191 | KANSL1 | c.2906C>T (p.Pro969Leu) c.2903C>T (p.Pro968Leu) c.2714C>T (p.Pro905Leu) n.734C>T n.854C>T c.563C>T (p.Pro188Leu) n.323C>T c.2838-64C>T (n.2838-64C>T) n.7123C>T n.292C>T n.336C>T n.878C>T c.2804C>T (p.Pro935Leu) c.2717C>T (p.Pro906Leu) c.1676C>T (p.Pro559Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.46032231G>C | CA399987192 | KANSL1 | c.2906C>G (p.Pro969Arg) c.2903C>G (p.Pro968Arg) c.2714C>G (p.Pro905Arg) n.734C>G n.854C>G c.563C>G (p.Pro188Arg) n.323C>G c.2838-64C>G (n.2838-64C>G) n.7123C>G n.292C>G n.336C>G n.878C>G c.2804C>G (p.Pro935Arg) c.2717C>G (p.Pro906Arg) c.1676C>G (p.Pro559Arg) | ClinVar dbSNP gnomAD v4 |
17 | g.46032231G= | CA2262111054 | KANSL1 | c.2906C= (p.Pro969=) c.2903C= (p.Pro968=) c.2714C= (p.Pro905=) n.734C= n.854C= c.563C= (p.Pro188=) n.323C= c.2838-64C= (n.2838-64C=) n.7123C= n.292C= n.336C= n.878C= c.2804C= (p.Pro935=) c.2717C= (p.Pro906=) c.1676C= (p.Pro559=) | |
17 | g.46032231G>T | CA399987194 | KANSL1 | c.2906C>A (p.Pro969His) c.2903C>A (p.Pro968His) c.2714C>A (p.Pro905His) n.734C>A n.854C>A c.563C>A (p.Pro188His) n.323C>A c.2838-64C>A (n.2838-64C>A) n.7123C>A n.292C>A n.336C>A n.878C>A c.2804C>A (p.Pro935His) c.2717C>A (p.Pro906His) c.1676C>A (p.Pro559His) | |
17 | g.46032232G>A | CA399987196 | KANSL1 | c.2905C>T (p.Pro969Ser) c.2902C>T (p.Pro968Ser) c.2713C>T (p.Pro905Ser) n.733C>T n.853C>T c.562C>T (p.Pro188Ser) n.322C>T c.2838-65C>T (n.2838-65C>T) n.7122C>T n.291C>T n.335C>T n.877C>T c.2803C>T (p.Pro935Ser) c.2716C>T (p.Pro906Ser) c.1675C>T (p.Pro559Ser) | gnomAD v4 |
17 | g.46032232G>C | CA399987197 | KANSL1 | c.2905C>G (p.Pro969Ala) c.2902C>G (p.Pro968Ala) c.2713C>G (p.Pro905Ala) n.733C>G n.853C>G c.562C>G (p.Pro188Ala) n.322C>G c.2838-65C>G (n.2838-65C>G) n.7122C>G n.291C>G n.335C>G n.877C>G c.2803C>G (p.Pro935Ala) c.2716C>G (p.Pro906Ala) c.1675C>G (p.Pro559Ala) | |
17 | g.46032232G>T | CA399987198 | KANSL1 | c.2905C>A (p.Pro969Thr) c.2902C>A (p.Pro968Thr) c.2713C>A (p.Pro905Thr) n.733C>A n.853C>A c.562C>A (p.Pro188Thr) n.322C>A c.2838-65C>A (n.2838-65C>A) n.7122C>A n.291C>A n.335C>A n.877C>A c.2803C>A (p.Pro935Thr) c.2716C>A (p.Pro906Thr) c.1675C>A (p.Pro559Thr) | |
17 | g.46032242_46032271del | CA2638372368 | KANSL1 | c.2876_2905del (p.Leu959_Gln968del) c.2873_2902del (p.Leu958_Gln967del) c.2684_2713del (p.Leu895_Gln904del) n.704_733del n.824_853del c.533_562del (p.Leu178_Gln187del) n.293_322del c.2838-94_2838-65del (n.2838-94_2838-65del) n.7093_7122del n.262_291del n.306_335del n.848_877del c.2774_2803del (p.Leu925_Gln934del) c.2687_2716del (p.Leu896_Gln905del) c.1646_1675del (p.Leu549_Gln558del) | gnomAD v4 |
17 | g.46032233C>A | CA399987200 | KANSL1 | c.2904G>T (p.Gln968His) c.2901G>T (p.Gln967His) c.2712G>T (p.Gln904His) n.732G>T n.852G>T c.561G>T (p.Gln187His) n.321G>T c.2838-66G>T (n.2838-66G>T) n.7121G>T n.290G>T n.334G>T n.876G>T c.2802G>T (p.Gln934His) c.2715G>T (p.Gln905His) c.1674G>T (p.Gln558His) | dbSNP |
17 | g.46032233C= | CA2262111055 | KANSL1 | c.2904G= (p.Gln968=) c.2901G= (p.Gln967=) c.2712G= (p.Gln904=) n.732G= n.852G= c.561G= (p.Gln187=) n.321G= c.2838-66G= (n.2838-66G=) n.7121G= n.290G= n.334G= n.876G= c.2802G= (p.Gln934=) c.2715G= (p.Gln905=) c.1674G= (p.Gln558=) | |
17 | g.46032233C>G | CA399987202 | KANSL1 | c.2904G>C (p.Gln968His) c.2901G>C (p.Gln967His) c.2712G>C (p.Gln904His) n.732G>C n.852G>C c.561G>C (p.Gln187His) n.321G>C c.2838-66G>C (n.2838-66G>C) n.7121G>C n.290G>C n.334G>C n.876G>C c.2802G>C (p.Gln934His) c.2715G>C (p.Gln905His) c.1674G>C (p.Gln558His) | |
17 | g.46032233C>T | CA500372039 | KANSL1 | c.2904G>A (p.Gln968=) c.2901G>A (p.Gln967=) c.2712G>A (p.Gln904=) n.732G>A n.852G>A c.561G>A (p.Gln187=) n.321G>A c.2838-66G>A (n.2838-66G>A) n.7121G>A n.290G>A n.334G>A n.876G>A c.2802G>A (p.Gln934=) c.2715G>A (p.Gln905=) c.1674G>A (p.Gln558=) | |
17 | g.46032234T>A | CA399987207 | KANSL1 | c.2903A>T (p.Gln968Leu) c.2900A>T (p.Gln967Leu) c.2711A>T (p.Gln904Leu) n.731A>T n.851A>T c.560A>T (p.Gln187Leu) n.320A>T c.2838-67A>T (n.2838-67A>T) n.7120A>T n.289A>T n.333A>T n.875A>T c.2801A>T (p.Gln934Leu) c.2714A>T (p.Gln905Leu) c.1673A>T (p.Gln558Leu) | |
17 | g.46032234T>C | CA399987206 | KANSL1 | c.2903A>G (p.Gln968Arg) c.2900A>G (p.Gln967Arg) c.2711A>G (p.Gln904Arg) n.731A>G n.851A>G c.560A>G (p.Gln187Arg) n.320A>G c.2838-67A>G (n.2838-67A>G) n.7120A>G n.289A>G n.333A>G n.875A>G c.2801A>G (p.Gln934Arg) c.2714A>G (p.Gln905Arg) c.1673A>G (p.Gln558Arg) | |
17 | g.46032234T>G | CA399987204 | KANSL1 | c.2903A>C (p.Gln968Pro) c.2900A>C (p.Gln967Pro) c.2711A>C (p.Gln904Pro) n.731A>C n.851A>C c.560A>C (p.Gln187Pro) n.320A>C c.2838-67A>C (n.2838-67A>C) n.7120A>C n.289A>C n.333A>C n.875A>C c.2801A>C (p.Gln934Pro) c.2714A>C (p.Gln905Pro) c.1673A>C (p.Gln558Pro) | |
17 | g.46032234_46032235delinsTG | CA2262111056 | KANSL1 | c.2902_2903delinsCA (p.Gln968=) c.2899_2900delinsCA (p.Gln967=) c.2710_2711delinsCA (p.Gln904=) n.730_731delinsCA n.850_851delinsCA c.559_560delinsCA (p.Gln187=) n.319_320delinsCA c.2838-68_2838-67delinsCA (n.2838-68_2838-67delinsCA) n.7119_7120delinsCA n.288_289delinsCA n.332_333delinsCA n.874_875delinsCA c.2800_2801delinsCA (p.Gln934=) c.2713_2714delinsCA (p.Gln905=) c.1672_1673delinsCA (p.Gln558=) | |
17 | g.46032235G>A | CA399987209 | KANSL1 | c.2902C>T (p.Gln968Ter) c.2899C>T (p.Gln967Ter) c.2710C>T (p.Gln904Ter) n.730C>T n.850C>T c.559C>T (p.Gln187Ter) n.319C>T c.2838-68C>T (n.2838-68C>T) n.7119C>T n.288C>T n.332C>T n.874C>T c.2800C>T (p.Gln934Ter) c.2713C>T (p.Gln905Ter) c.1672C>T (p.Gln558Ter) | ClinVar dbSNP |
17 | g.46032235G>C | CA399987210 | KANSL1 | c.2902C>G (p.Gln968Glu) c.2899C>G (p.Gln967Glu) c.2710C>G (p.Gln904Glu) n.730C>G n.850C>G c.559C>G (p.Gln187Glu) n.319C>G c.2838-68C>G (n.2838-68C>G) n.7119C>G n.288C>G n.332C>G n.874C>G c.2800C>G (p.Gln934Glu) c.2713C>G (p.Gln905Glu) c.1672C>G (p.Gln558Glu) | |
17 | g.46032235G= | CA2262111057 | KANSL1 | c.2902C= (p.Gln968=) c.2899C= (p.Gln967=) c.2710C= (p.Gln904=) n.730C= n.850C= c.559C= (p.Gln187=) n.319C= c.2838-68C= (n.2838-68C=) n.7119C= n.288C= n.332C= n.874C= c.2800C= (p.Gln934=) c.2713C= (p.Gln905=) c.1672C= (p.Gln558=) | |
17 | g.46032235G>T | CA399987211 | KANSL1 | c.2902C>A (p.Gln968Lys) c.2899C>A (p.Gln967Lys) c.2710C>A (p.Gln904Lys) n.730C>A n.850C>A c.559C>A (p.Gln187Lys) n.319C>A c.2838-68C>A (n.2838-68C>A) n.7119C>A n.288C>A n.332C>A n.874C>A c.2800C>A (p.Gln934Lys) c.2713C>A (p.Gln905Lys) c.1672C>A (p.Gln558Lys) | |
17 | g.46032240dup | CA915950167 | KANSL1 | c.2902dup (p.Gln968ProfsTer6) c.2899dup (p.Gln967ProfsTer6) c.2710dup (p.Gln904ProfsTer6) n.730dup n.850dup c.559dup (p.Gln187ProfsTer6) n.319dup c.2838-68dup (n.2838-68dup) n.7119dup n.288dup n.332dup n.874dup c.2800dup (p.Gln934ProfsTer6) c.2713dup (p.Gln905ProfsTer6) c.1672dup (p.Gln558ProfsTer6) | ClinVar dbSNP |
17 | g.46032239_46032240dup | CA2809640686 | KANSL1 | c.2901_2902dup (p.Gln968ProfsTer?) c.2898_2899dup (p.Gln967ProfsTer?) c.2709_2710dup (p.Gln904ProfsTer?) n.729_730dup n.849_850dup c.558_559dup (p.Gln187ProfsTer?) n.318_319dup c.2838-69_2838-68dup (n.2838-69_2838-68dup) n.7118_7119dup n.287_288dup n.331_332dup n.873_874dup c.2799_2800dup (p.Gln934ProfsTer?) c.2712_2713dup (p.Gln905ProfsTer?) c.1671_1672dup (p.Gln558ProfsTer?) | |
17 | g.46032240del | CA626333360 | KANSL1 | c.2902del (p.Gln968SerfsTer?) c.2899del (p.Gln967SerfsTer?) c.2710del (p.Gln904SerfsTer?) n.730del n.850del c.559del (p.Gln187SerfsTer?) n.319del c.2838-68del (n.2838-68del) n.7119del n.288del n.332del n.874del c.2800del (p.Gln934SerfsTer?) c.2713del (p.Gln905SerfsTer?) c.1672del (p.Gln558SerfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.46032236G>A | CA500372041 | KANSL1 | c.2901C>T (p.Pro967=) c.2898C>T (p.Pro966=) c.2709C>T (p.Pro903=) n.729C>T n.849C>T c.558C>T (p.Pro186=) n.318C>T c.2838-69C>T (n.2838-69C>T) n.7118C>T n.287C>T n.331C>T n.873C>T c.2799C>T (p.Pro933=) c.2712C>T (p.Pro904=) c.1671C>T (p.Pro557=) | COSMIC |
17 | g.46032236G>C | CA500372040 | KANSL1 | c.2901C>G (p.Pro967=) c.2898C>G (p.Pro966=) c.2709C>G (p.Pro903=) n.729C>G n.849C>G c.558C>G (p.Pro186=) n.318C>G c.2838-69C>G (n.2838-69C>G) n.7118C>G n.287C>G n.331C>G n.873C>G c.2799C>G (p.Pro933=) c.2712C>G (p.Pro904=) c.1671C>G (p.Pro557=) | dbSNP gnomAD v4 |
17 | g.46032236G= | CA2262111058 | KANSL1 | c.2901C= (p.Pro967=) c.2898C= (p.Pro966=) c.2709C= (p.Pro903=) n.729C= n.849C= c.558C= (p.Pro186=) n.318C= c.2838-69C= (n.2838-69C=) n.7118C= n.287C= n.331C= n.873C= c.2799C= (p.Pro933=) c.2712C= (p.Pro904=) c.1671C= (p.Pro557=) | |
17 | g.46032236G>T | CA500372042 | KANSL1 | c.2901C>A (p.Pro967=) c.2898C>A (p.Pro966=) c.2709C>A (p.Pro903=) n.729C>A n.849C>A c.558C>A (p.Pro186=) n.318C>A c.2838-69C>A (n.2838-69C>A) n.7118C>A n.287C>A n.331C>A n.873C>A c.2799C>A (p.Pro933=) c.2712C>A (p.Pro904=) c.1671C>A (p.Pro557=) | ClinVar gnomAD v4 |
17 | g.46032237G>A | CA399987212 | KANSL1 | c.2900C>T (p.Pro967Leu) c.2897C>T (p.Pro966Leu) c.2708C>T (p.Pro903Leu) n.728C>T n.848C>T c.557C>T (p.Pro186Leu) n.317C>T c.2838-70C>T (n.2838-70C>T) n.7117C>T n.286C>T n.330C>T n.872C>T c.2798C>T (p.Pro933Leu) c.2711C>T (p.Pro904Leu) c.1670C>T (p.Pro557Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.46032237G>C | CA399987214 | KANSL1 | c.2900C>G (p.Pro967Arg) c.2897C>G (p.Pro966Arg) c.2708C>G (p.Pro903Arg) n.728C>G n.848C>G c.557C>G (p.Pro186Arg) n.317C>G c.2838-70C>G (n.2838-70C>G) n.7117C>G n.286C>G n.330C>G n.872C>G c.2798C>G (p.Pro933Arg) c.2711C>G (p.Pro904Arg) c.1670C>G (p.Pro557Arg) | |
17 | g.46032237G= | CA2262111059 | KANSL1 | c.2900C= (p.Pro967=) c.2897C= (p.Pro966=) c.2708C= (p.Pro903=) n.728C= n.848C= c.557C= (p.Pro186=) n.317C= c.2838-70C= (n.2838-70C=) n.7117C= n.286C= n.330C= n.872C= c.2798C= (p.Pro933=) c.2711C= (p.Pro904=) c.1670C= (p.Pro557=) | |
17 | g.46032237G>T | CA8618420 | KANSL1 | c.2900C>A (p.Pro967His) c.2897C>A (p.Pro966His) c.2708C>A (p.Pro903His) n.728C>A n.848C>A c.557C>A (p.Pro186His) n.317C>A c.2838-70C>A (n.2838-70C>A) n.7117C>A n.286C>A n.330C>A n.872C>A c.2798C>A (p.Pro933His) c.2711C>A (p.Pro904His) c.1670C>A (p.Pro557His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032238G>A | CA399987216 | KANSL1 | c.2899C>T (p.Pro967Ser) c.2896C>T (p.Pro966Ser) c.2707C>T (p.Pro903Ser) n.727C>T n.847C>T c.556C>T (p.Pro186Ser) n.316C>T c.2838-71C>T (n.2838-71C>T) n.7116C>T n.285C>T n.329C>T n.871C>T c.2797C>T (p.Pro933Ser) c.2710C>T (p.Pro904Ser) c.1669C>T (p.Pro557Ser) | |
17 | g.46032238G>C | CA399987217 | KANSL1 | c.2899C>G (p.Pro967Ala) c.2896C>G (p.Pro966Ala) c.2707C>G (p.Pro903Ala) n.727C>G n.847C>G c.556C>G (p.Pro186Ala) n.316C>G c.2838-71C>G (n.2838-71C>G) n.7116C>G n.285C>G n.329C>G n.871C>G c.2797C>G (p.Pro933Ala) c.2710C>G (p.Pro904Ala) c.1669C>G (p.Pro557Ala) | gnomAD v4 |
17 | g.46032238G>T | CA399987218 | KANSL1 | c.2899C>A (p.Pro967Thr) c.2896C>A (p.Pro966Thr) c.2707C>A (p.Pro903Thr) n.727C>A n.847C>A c.556C>A (p.Pro186Thr) n.316C>A c.2838-71C>A (n.2838-71C>A) n.7116C>A n.285C>A n.329C>A n.871C>A c.2797C>A (p.Pro933Thr) c.2710C>A (p.Pro904Thr) c.1669C>A (p.Pro557Thr) | |
17 | g.46032239G>A | CA8618421 | KANSL1 | c.2898C>T (p.Thr966=) c.2895C>T (p.Thr965=) c.2706C>T (p.Thr902=) n.726C>T n.846C>T c.555C>T (p.Thr185=) n.315C>T c.2838-72C>T (n.2838-72C>T) n.7115C>T n.284C>T n.328C>T n.870C>T c.2796C>T (p.Thr932=) c.2709C>T (p.Thr903=) c.1668C>T (p.Thr556=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032239G>C | CA500372044 | KANSL1 | c.2898C>G (p.Thr966=) c.2895C>G (p.Thr965=) c.2706C>G (p.Thr902=) n.726C>G n.846C>G c.555C>G (p.Thr185=) n.315C>G c.2838-72C>G (n.2838-72C>G) n.7115C>G n.284C>G n.328C>G n.870C>G c.2796C>G (p.Thr932=) c.2709C>G (p.Thr903=) c.1668C>G (p.Thr556=) | |
17 | g.46032239G= | CA2262111060 | KANSL1 | c.2898C= (p.Thr966=) c.2895C= (p.Thr965=) c.2706C= (p.Thr902=) n.726C= n.846C= c.555C= (p.Thr185=) n.315C= c.2838-72C= (n.2838-72C=) n.7115C= n.284C= n.328C= n.870C= c.2796C= (p.Thr932=) c.2709C= (p.Thr903=) c.1668C= (p.Thr556=) | |
17 | g.46032239G>T | CA500372043 | KANSL1 | c.2898C>A (p.Thr966=) c.2895C>A (p.Thr965=) c.2706C>A (p.Thr902=) n.726C>A n.846C>A c.555C>A (p.Thr185=) n.315C>A c.2838-72C>A (n.2838-72C>A) n.7115C>A n.284C>A n.328C>A n.870C>A c.2796C>A (p.Thr932=) c.2709C>A (p.Thr903=) c.1668C>A (p.Thr556=) | gnomAD v4 |
17 | g.46032240G>A | CA8618422 | KANSL1 | c.2897C>T (p.Thr966Ile) c.2894C>T (p.Thr965Ile) c.2705C>T (p.Thr902Ile) n.725C>T n.845C>T c.554C>T (p.Thr185Ile) n.314C>T c.2838-73C>T (n.2838-73C>T) n.7114C>T n.283C>T n.327C>T n.869C>T c.2795C>T (p.Thr932Ile) c.2708C>T (p.Thr903Ile) c.1667C>T (p.Thr556Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032240G>C | CA399987223 | KANSL1 | c.2897C>G (p.Thr966Ser) c.2894C>G (p.Thr965Ser) c.2705C>G (p.Thr902Ser) n.725C>G n.845C>G c.554C>G (p.Thr185Ser) n.314C>G c.2838-73C>G (n.2838-73C>G) n.7114C>G n.283C>G n.327C>G n.869C>G c.2795C>G (p.Thr932Ser) c.2708C>G (p.Thr903Ser) c.1667C>G (p.Thr556Ser) | |
17 | g.46032240G= | CA2262111061 | KANSL1 | c.2897C= (p.Thr966=) c.2894C= (p.Thr965=) c.2705C= (p.Thr902=) n.725C= n.845C= c.554C= (p.Thr185=) n.314C= c.2838-73C= (n.2838-73C=) n.7114C= n.283C= n.327C= n.869C= c.2795C= (p.Thr932=) c.2708C= (p.Thr903=) c.1667C= (p.Thr556=) | |
17 | g.46032240G>T | CA399987224 | KANSL1 | c.2897C>A (p.Thr966Asn) c.2894C>A (p.Thr965Asn) c.2705C>A (p.Thr902Asn) n.725C>A n.845C>A c.554C>A (p.Thr185Asn) n.314C>A c.2838-73C>A (n.2838-73C>A) n.7114C>A n.283C>A n.327C>A n.869C>A c.2795C>A (p.Thr932Asn) c.2708C>A (p.Thr903Asn) c.1667C>A (p.Thr556Asn) | dbSNP gnomAD v4 |
17 | g.46032241T>A | CA399987228 | KANSL1 | c.2896A>T (p.Thr966Ser) c.2893A>T (p.Thr965Ser) c.2704A>T (p.Thr902Ser) n.724A>T n.844A>T c.553A>T (p.Thr185Ser) n.313A>T c.2838-74A>T (n.2838-74A>T) n.7113A>T n.282A>T n.326A>T n.868A>T c.2794A>T (p.Thr932Ser) c.2707A>T (p.Thr903Ser) c.1666A>T (p.Thr556Ser) | |
17 | g.46032241T>C | CA399987230 | KANSL1 | c.2896A>G (p.Thr966Ala) c.2893A>G (p.Thr965Ala) c.2704A>G (p.Thr902Ala) n.724A>G n.844A>G c.553A>G (p.Thr185Ala) n.313A>G c.2838-74A>G (n.2838-74A>G) n.7113A>G n.282A>G n.326A>G n.868A>G c.2794A>G (p.Thr932Ala) c.2707A>G (p.Thr903Ala) c.1666A>G (p.Thr556Ala) | |
17 | g.46032241T>G | CA8618423 | KANSL1 | c.2896A>C (p.Thr966Pro) c.2893A>C (p.Thr965Pro) c.2704A>C (p.Thr902Pro) n.724A>C n.844A>C c.553A>C (p.Thr185Pro) n.313A>C c.2838-74A>C (n.2838-74A>C) n.7113A>C n.282A>C n.326A>C n.868A>C c.2794A>C (p.Thr932Pro) c.2707A>C (p.Thr903Pro) c.1666A>C (p.Thr556Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032241T= | CA2262111062 | KANSL1 | c.2896A= (p.Thr966=) c.2893A= (p.Thr965=) c.2704A= (p.Thr902=) n.724A= n.844A= c.553A= (p.Thr185=) n.313A= c.2838-74A= (n.2838-74A=) n.7113A= n.282A= n.326A= n.868A= c.2794A= (p.Thr932=) c.2707A= (p.Thr903=) c.1666A= (p.Thr556=) | |
17 | g.46032241_46032264dup | CA645596184 | KANSL1 | c.2873_2896dup (p.Ser965_Thr966insLysLeuGlySerAlaAsnProSer) c.2870_2893dup (p.Ser964_Thr965insLysLeuGlySerAlaAsnProSer) c.2681_2704dup (p.Ser901_Thr902insLysLeuGlySerAlaAsnProSer) n.701_724dup n.821_844dup c.530_553dup (p.Ser184_Thr185insLysLeuGlySerAlaAsnProSer) n.290_313dup c.2838-97_2838-74dup (n.2838-97_2838-74dup) n.7090_7113dup n.259_282dup n.303_326dup n.845_868dup c.2771_2794dup (p.Ser931_Thr932insLysLeuGlySerAlaAsnProSer) c.2684_2707dup (p.Ser902_Thr903insLysLeuGlySerAlaAsnProSer) c.1643_1666dup (p.Ser555_Thr556insLysLeuGlySerAlaAsnProSer) | COSMIC |
17 | g.46032242G>A | CA500372045 | KANSL1 | c.2895C>T (p.Ser965=) c.2892C>T (p.Ser964=) c.2703C>T (p.Ser901=) n.723C>T n.843C>T c.552C>T (p.Ser184=) n.312C>T c.2838-75C>T (n.2838-75C>T) n.7112C>T n.281C>T n.325C>T n.867C>T c.2793C>T (p.Ser931=) c.2706C>T (p.Ser902=) c.1665C>T (p.Ser555=) | |
17 | g.46032242G>C | CA500372046 | KANSL1 | c.2895C>G (p.Ser965=) c.2892C>G (p.Ser964=) c.2703C>G (p.Ser901=) n.723C>G n.843C>G c.552C>G (p.Ser184=) n.312C>G c.2838-75C>G (n.2838-75C>G) n.7112C>G n.281C>G n.325C>G n.867C>G c.2793C>G (p.Ser931=) c.2706C>G (p.Ser902=) c.1665C>G (p.Ser555=) | |
17 | g.46032242G>T | CA500372047 | KANSL1 | c.2895C>A (p.Ser965=) c.2892C>A (p.Ser964=) c.2703C>A (p.Ser901=) n.723C>A n.843C>A c.552C>A (p.Ser184=) n.312C>A c.2838-75C>A (n.2838-75C>A) n.7112C>A n.281C>A n.325C>A n.867C>A c.2793C>A (p.Ser931=) c.2706C>A (p.Ser902=) c.1665C>A (p.Ser555=) | |
17 | g.46032243G>A | CA399987232 | KANSL1 | c.2894C>T (p.Ser965Phe) c.2891C>T (p.Ser964Phe) c.2702C>T (p.Ser901Phe) n.722C>T n.842C>T c.551C>T (p.Ser184Phe) n.311C>T c.2838-76C>T (n.2838-76C>T) n.7111C>T n.280C>T n.324C>T n.866C>T c.2792C>T (p.Ser931Phe) c.2705C>T (p.Ser902Phe) c.1664C>T (p.Ser555Phe) | gnomAD v4 |
17 | g.46032243G>C | CA399987233 | KANSL1 | c.2894C>G (p.Ser965Cys) c.2891C>G (p.Ser964Cys) c.2702C>G (p.Ser901Cys) n.722C>G n.842C>G c.551C>G (p.Ser184Cys) n.311C>G c.2838-76C>G (n.2838-76C>G) n.7111C>G n.280C>G n.324C>G n.866C>G c.2792C>G (p.Ser931Cys) c.2705C>G (p.Ser902Cys) c.1664C>G (p.Ser555Cys) | ClinVar |
17 | g.46032243G>T | CA399987235 | KANSL1 | c.2894C>A (p.Ser965Tyr) c.2891C>A (p.Ser964Tyr) c.2702C>A (p.Ser901Tyr) n.722C>A n.842C>A c.551C>A (p.Ser184Tyr) n.311C>A c.2838-76C>A (n.2838-76C>A) n.7111C>A n.280C>A n.324C>A n.866C>A c.2792C>A (p.Ser931Tyr) c.2705C>A (p.Ser902Tyr) c.1664C>A (p.Ser555Tyr) | |
17 | g.46032244A= | CA2262111063 | KANSL1 | c.2893T= (p.Ser965=) c.2890T= (p.Ser964=) c.2701T= (p.Ser901=) n.721T= n.841T= c.550T= (p.Ser184=) n.310T= c.2838-77T= (n.2838-77T=) n.7110T= n.279T= n.323T= n.865T= c.2791T= (p.Ser931=) c.2704T= (p.Ser902=) c.1663T= (p.Ser555=) | |
17 | g.46032244A>C | CA399987237 | KANSL1 | c.2893T>G (p.Ser965Ala) c.2890T>G (p.Ser964Ala) c.2701T>G (p.Ser901Ala) n.721T>G n.841T>G c.550T>G (p.Ser184Ala) n.310T>G c.2838-77T>G (n.2838-77T>G) n.7110T>G n.279T>G n.323T>G n.865T>G c.2791T>G (p.Ser931Ala) c.2704T>G (p.Ser902Ala) c.1663T>G (p.Ser555Ala) | |
17 | g.46032244A>G | CA399987239 | KANSL1 | c.2893T>C (p.Ser965Pro) c.2890T>C (p.Ser964Pro) c.2701T>C (p.Ser901Pro) n.721T>C n.841T>C c.550T>C (p.Ser184Pro) n.310T>C c.2838-77T>C (n.2838-77T>C) n.7110T>C n.279T>C n.323T>C n.865T>C c.2791T>C (p.Ser931Pro) c.2704T>C (p.Ser902Pro) c.1663T>C (p.Ser555Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.46032244A>T | CA399987241 | KANSL1 | c.2893T>A (p.Ser965Thr) c.2890T>A (p.Ser964Thr) c.2701T>A (p.Ser901Thr) n.721T>A n.841T>A c.550T>A (p.Ser184Thr) n.310T>A c.2838-77T>A (n.2838-77T>A) n.7110T>A n.279T>A n.323T>A n.865T>A c.2791T>A (p.Ser931Thr) c.2704T>A (p.Ser902Thr) c.1663T>A (p.Ser555Thr) | |
17 | g.46032245G>A | CA500372049 | KANSL1 | c.2892C>T (p.Pro964=) c.2889C>T (p.Pro963=) c.2700C>T (p.Pro900=) n.720C>T n.840C>T c.549C>T (p.Pro183=) n.309C>T c.2838-78C>T (n.2838-78C>T) n.7109C>T n.278C>T n.322C>T n.864C>T c.2790C>T (p.Pro930=) c.2703C>T (p.Pro901=) c.1662C>T (p.Pro554=) | gnomAD v4 |
17 | g.46032245G>C | CA500372050 | KANSL1 | c.2892C>G (p.Pro964=) c.2889C>G (p.Pro963=) c.2700C>G (p.Pro900=) n.720C>G n.840C>G c.549C>G (p.Pro183=) n.309C>G c.2838-78C>G (n.2838-78C>G) n.7109C>G n.278C>G n.322C>G n.864C>G c.2790C>G (p.Pro930=) c.2703C>G (p.Pro901=) c.1662C>G (p.Pro554=) | gnomAD v4 |
17 | g.46032245G>T | CA500372048 | KANSL1 | c.2892C>A (p.Pro964=) c.2889C>A (p.Pro963=) c.2700C>A (p.Pro900=) n.720C>A n.840C>A c.549C>A (p.Pro183=) n.309C>A c.2838-78C>A (n.2838-78C>A) n.7109C>A n.278C>A n.322C>A n.864C>A c.2790C>A (p.Pro930=) c.2703C>A (p.Pro901=) c.1662C>A (p.Pro554=) | |
17 | g.46032246G>A | CA399987243 | KANSL1 | c.2891C>T (p.Pro964Leu) c.2888C>T (p.Pro963Leu) c.2699C>T (p.Pro900Leu) n.719C>T n.839C>T c.548C>T (p.Pro183Leu) n.308C>T c.2838-79C>T (n.2838-79C>T) n.7108C>T n.277C>T n.321C>T n.863C>T c.2789C>T (p.Pro930Leu) c.2702C>T (p.Pro901Leu) c.1661C>T (p.Pro554Leu) | gnomAD v4 COSMIC |
17 | g.46032246G>C | CA399987245 | KANSL1 | c.2891C>G (p.Pro964Arg) c.2888C>G (p.Pro963Arg) c.2699C>G (p.Pro900Arg) n.719C>G n.839C>G c.548C>G (p.Pro183Arg) n.308C>G c.2838-79C>G (n.2838-79C>G) n.7108C>G n.277C>G n.321C>G n.863C>G c.2789C>G (p.Pro930Arg) c.2702C>G (p.Pro901Arg) c.1661C>G (p.Pro554Arg) | |
17 | g.46032246G>T | CA399987248 | KANSL1 | c.2891C>A (p.Pro964His) c.2888C>A (p.Pro963His) c.2699C>A (p.Pro900His) n.719C>A n.839C>A c.548C>A (p.Pro183His) n.308C>A c.2838-79C>A (n.2838-79C>A) n.7108C>A n.277C>A n.321C>A n.863C>A c.2789C>A (p.Pro930His) c.2702C>A (p.Pro901His) c.1661C>A (p.Pro554His) | |
17 | g.46032247G>A | CA399987250 | KANSL1 | c.2890C>T (p.Pro964Ser) c.2887C>T (p.Pro963Ser) c.2698C>T (p.Pro900Ser) n.718C>T n.838C>T c.547C>T (p.Pro183Ser) n.307C>T c.2838-80C>T (n.2838-80C>T) n.7107C>T n.276C>T n.320C>T n.862C>T c.2788C>T (p.Pro930Ser) c.2701C>T (p.Pro901Ser) c.1660C>T (p.Pro554Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.46032247G>C | CA399987253 | KANSL1 | c.2890C>G (p.Pro964Ala) c.2887C>G (p.Pro963Ala) c.2698C>G (p.Pro900Ala) n.718C>G n.838C>G c.547C>G (p.Pro183Ala) n.307C>G c.2838-80C>G (n.2838-80C>G) n.7107C>G n.276C>G n.320C>G n.862C>G c.2788C>G (p.Pro930Ala) c.2701C>G (p.Pro901Ala) c.1660C>G (p.Pro554Ala) | |
17 | g.46032247G= | CA2262111064 | KANSL1 | c.2890C= (p.Pro964=) c.2887C= (p.Pro963=) c.2698C= (p.Pro900=) n.718C= n.838C= c.547C= (p.Pro183=) n.307C= c.2838-80C= (n.2838-80C=) n.7107C= n.276C= n.320C= n.862C= c.2788C= (p.Pro930=) c.2701C= (p.Pro901=) c.1660C= (p.Pro554=) | |
17 | g.46032247G>T | CA399987254 | KANSL1 | c.2890C>A (p.Pro964Thr) c.2887C>A (p.Pro963Thr) c.2698C>A (p.Pro900Thr) n.718C>A n.838C>A c.547C>A (p.Pro183Thr) n.307C>A c.2838-80C>A (n.2838-80C>A) n.7107C>A n.276C>A n.320C>A n.862C>A c.2788C>A (p.Pro930Thr) c.2701C>A (p.Pro901Thr) c.1660C>A (p.Pro554Thr) | |
17 | g.46032248G>A | CA500372051 | KANSL1 | c.2889C>T (p.Asn963=) c.2886C>T (p.Asn962=) c.2697C>T (p.Asn899=) n.717C>T n.837C>T c.546C>T (p.Asn182=) n.306C>T c.2838-81C>T (n.2838-81C>T) n.7106C>T n.275C>T n.319C>T n.861C>T c.2787C>T (p.Asn929=) c.2700C>T (p.Asn900=) c.1659C>T (p.Asn553=) | ClinVar dbSNP gnomAD v4 |
17 | g.46032248G>C | CA399987257 | KANSL1 | c.2889C>G (p.Asn963Lys) c.2886C>G (p.Asn962Lys) c.2697C>G (p.Asn899Lys) n.717C>G n.837C>G c.546C>G (p.Asn182Lys) n.306C>G c.2838-81C>G (n.2838-81C>G) n.7106C>G n.275C>G n.319C>G n.861C>G c.2787C>G (p.Asn929Lys) c.2700C>G (p.Asn900Lys) c.1659C>G (p.Asn553Lys) | ClinVar |
17 | g.46032248G= | CA2262111065 | KANSL1 | c.2889C= (p.Asn963=) c.2886C= (p.Asn962=) c.2697C= (p.Asn899=) n.717C= n.837C= c.546C= (p.Asn182=) n.306C= c.2838-81C= (n.2838-81C=) n.7106C= n.275C= n.319C= n.861C= c.2787C= (p.Asn929=) c.2700C= (p.Asn900=) c.1659C= (p.Asn553=) | |
17 | g.46032248G>T | CA399987256 | KANSL1 | c.2889C>A (p.Asn963Lys) c.2886C>A (p.Asn962Lys) c.2697C>A (p.Asn899Lys) n.717C>A n.837C>A c.546C>A (p.Asn182Lys) n.306C>A c.2838-81C>A (n.2838-81C>A) n.7106C>A n.275C>A n.319C>A n.861C>A c.2787C>A (p.Asn929Lys) c.2700C>A (p.Asn900Lys) c.1659C>A (p.Asn553Lys) | gnomAD v4 |
17 | g.46032249T>A | CA399987259 | KANSL1 | c.2888A>T (p.Asn963Ile) c.2885A>T (p.Asn962Ile) c.2696A>T (p.Asn899Ile) n.716A>T n.836A>T c.545A>T (p.Asn182Ile) n.305A>T c.2838-82A>T (n.2838-82A>T) n.7105A>T n.274A>T n.318A>T n.860A>T c.2786A>T (p.Asn929Ile) c.2699A>T (p.Asn900Ile) c.1658A>T (p.Asn553Ile) | |
17 | g.46032249T>C | CA399987260 | KANSL1 | c.2888A>G (p.Asn963Ser) c.2885A>G (p.Asn962Ser) c.2696A>G (p.Asn899Ser) n.716A>G n.836A>G c.545A>G (p.Asn182Ser) n.305A>G c.2838-82A>G (n.2838-82A>G) n.7105A>G n.274A>G n.318A>G n.860A>G c.2786A>G (p.Asn929Ser) c.2699A>G (p.Asn900Ser) c.1658A>G (p.Asn553Ser) | |
17 | g.46032249T>G | CA399987261 | KANSL1 | c.2888A>C (p.Asn963Thr) c.2885A>C (p.Asn962Thr) c.2696A>C (p.Asn899Thr) n.716A>C n.836A>C c.545A>C (p.Asn182Thr) n.305A>C c.2838-82A>C (n.2838-82A>C) n.7105A>C n.274A>C n.318A>C n.860A>C c.2786A>C (p.Asn929Thr) c.2699A>C (p.Asn900Thr) c.1658A>C (p.Asn553Thr) | |
17 | g.46032250T>A | CA399987263 | KANSL1 | c.2887A>T (p.Asn963Tyr) c.2884A>T (p.Asn962Tyr) c.2695A>T (p.Asn899Tyr) n.715A>T n.835A>T c.544A>T (p.Asn182Tyr) n.304A>T c.2838-83A>T (n.2838-83A>T) n.7104A>T n.273A>T n.317A>T n.859A>T c.2785A>T (p.Asn929Tyr) c.2698A>T (p.Asn900Tyr) c.1657A>T (p.Asn553Tyr) | |
17 | g.46032250T>C | CA399987265 | KANSL1 | c.2887A>G (p.Asn963Asp) c.2884A>G (p.Asn962Asp) c.2695A>G (p.Asn899Asp) n.715A>G n.835A>G c.544A>G (p.Asn182Asp) n.304A>G c.2838-83A>G (n.2838-83A>G) n.7104A>G n.273A>G n.317A>G n.859A>G c.2785A>G (p.Asn929Asp) c.2698A>G (p.Asn900Asp) c.1657A>G (p.Asn553Asp) | |
17 | g.46032250T>G | CA399987267 | KANSL1 | c.2887A>C (p.Asn963His) c.2884A>C (p.Asn962His) c.2695A>C (p.Asn899His) n.715A>C n.835A>C c.544A>C (p.Asn182His) n.304A>C c.2838-83A>C (n.2838-83A>C) n.7104A>C n.273A>C n.317A>C n.859A>C c.2785A>C (p.Asn929His) c.2698A>C (p.Asn900His) c.1657A>C (p.Asn553His) | |
17 | g.46032251G>A | CA500372053 | KANSL1 | c.2886C>T (p.Ala962=) c.2883C>T (p.Ala961=) c.2694C>T (p.Ala898=) n.714C>T n.834C>T c.543C>T (p.Ala181=) n.303C>T c.2838-84C>T (n.2838-84C>T) n.7103C>T n.272C>T n.316C>T n.858C>T c.2784C>T (p.Ala928=) c.2697C>T (p.Ala899=) c.1656C>T (p.Ala552=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46032251G>C | CA500372052 | KANSL1 | c.2886C>G (p.Ala962=) c.2883C>G (p.Ala961=) c.2694C>G (p.Ala898=) n.714C>G n.834C>G c.543C>G (p.Ala181=) n.303C>G c.2838-84C>G (n.2838-84C>G) n.7103C>G n.272C>G n.316C>G n.858C>G c.2784C>G (p.Ala928=) c.2697C>G (p.Ala899=) c.1656C>G (p.Ala552=) | |
17 | g.46032251G= | CA2262111066 | KANSL1 | c.2886C= (p.Ala962=) c.2883C= (p.Ala961=) c.2694C= (p.Ala898=) n.714C= n.834C= c.543C= (p.Ala181=) n.303C= c.2838-84C= (n.2838-84C=) n.7103C= n.272C= n.316C= n.858C= c.2784C= (p.Ala928=) c.2697C= (p.Ala899=) c.1656C= (p.Ala552=) | |
17 | g.46032251G>T | CA291125983 | KANSL1 | c.2886C>A (p.Ala962=) c.2883C>A (p.Ala961=) c.2694C>A (p.Ala898=) n.714C>A n.834C>A c.543C>A (p.Ala181=) n.303C>A c.2838-84C>A (n.2838-84C>A) n.7103C>A n.272C>A n.316C>A n.858C>A c.2784C>A (p.Ala928=) c.2697C>A (p.Ala899=) c.1656C>A (p.Ala552=) | dbSNP gnomAD v4 |
17 | g.46032252G>A | CA8618424 | KANSL1 | c.2885C>T (p.Ala962Val) c.2882C>T (p.Ala961Val) c.2693C>T (p.Ala898Val) n.713C>T n.833C>T c.542C>T (p.Ala181Val) n.302C>T c.2838-85C>T (n.2838-85C>T) n.7102C>T n.271C>T n.315C>T n.857C>T c.2783C>T (p.Ala928Val) c.2696C>T (p.Ala899Val) c.1655C>T (p.Ala552Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46032252G>C | CA399987271 | KANSL1 | c.2885C>G (p.Ala962Gly) c.2882C>G (p.Ala961Gly) c.2693C>G (p.Ala898Gly) n.713C>G n.833C>G c.542C>G (p.Ala181Gly) n.302C>G c.2838-85C>G (n.2838-85C>G) n.7102C>G n.271C>G n.315C>G n.857C>G c.2783C>G (p.Ala928Gly) c.2696C>G (p.Ala899Gly) c.1655C>G (p.Ala552Gly) | |
17 | g.46032252G= | CA2262111067 | KANSL1 | c.2885C= (p.Ala962=) c.2882C= (p.Ala961=) c.2693C= (p.Ala898=) n.713C= n.833C= c.542C= (p.Ala181=) n.302C= c.2838-85C= (n.2838-85C=) n.7102C= n.271C= n.315C= n.857C= c.2783C= (p.Ala928=) c.2696C= (p.Ala899=) c.1655C= (p.Ala552=) | |
17 | g.46032252G>T | CA399987272 | KANSL1 | c.2885C>A (p.Ala962Asp) c.2882C>A (p.Ala961Asp) c.2693C>A (p.Ala898Asp) n.713C>A n.833C>A c.542C>A (p.Ala181Asp) n.302C>A c.2838-85C>A (n.2838-85C>A) n.7102C>A n.271C>A n.315C>A n.857C>A c.2783C>A (p.Ala928Asp) c.2696C>A (p.Ala899Asp) c.1655C>A (p.Ala552Asp) | |
17 | g.46032253C>A | CA399987273 | KANSL1 | c.2884G>T (p.Ala962Ser) c.2881G>T (p.Ala961Ser) c.2692G>T (p.Ala898Ser) n.712G>T n.832G>T c.541G>T (p.Ala181Ser) n.301G>T c.2838-86G>T (n.2838-86G>T) n.7101G>T n.270G>T n.314G>T n.856G>T c.2782G>T (p.Ala928Ser) c.2695G>T (p.Ala899Ser) c.1654G>T (p.Ala552Ser) | |
17 | g.46032253C= | CA2262111068 | KANSL1 | c.2884G= (p.Ala962=) c.2881G= (p.Ala961=) c.2692G= (p.Ala898=) n.712G= n.832G= c.541G= (p.Ala181=) n.301G= c.2838-86G= (n.2838-86G=) n.7101G= n.270G= n.314G= n.856G= c.2782G= (p.Ala928=) c.2695G= (p.Ala899=) c.1654G= (p.Ala552=) | |
17 | g.46032253C>G | CA399987274 | KANSL1 | c.2884G>C (p.Ala962Pro) c.2881G>C (p.Ala961Pro) c.2692G>C (p.Ala898Pro) n.712G>C n.832G>C c.541G>C (p.Ala181Pro) n.301G>C c.2838-86G>C (n.2838-86G>C) n.7101G>C n.270G>C n.314G>C n.856G>C c.2782G>C (p.Ala928Pro) c.2695G>C (p.Ala899Pro) c.1654G>C (p.Ala552Pro) | |
17 | g.46032253C>T | CA291126013 | KANSL1 | c.2884G>A (p.Ala962Thr) c.2881G>A (p.Ala961Thr) c.2692G>A (p.Ala898Thr) n.712G>A n.832G>A c.541G>A (p.Ala181Thr) n.301G>A c.2838-86G>A (n.2838-86G>A) n.7101G>A n.270G>A n.314G>A n.856G>A c.2782G>A (p.Ala928Thr) c.2695G>A (p.Ala899Thr) c.1654G>A (p.Ala552Thr) | dbSNP gnomAD v4 |
17 | g.46032254A>C | CA399987275 | KANSL1 | c.2883T>G (p.Ser961Arg) c.2880T>G (p.Ser960Arg) c.2691T>G (p.Ser897Arg) n.711T>G n.831T>G c.540T>G (p.Ser180Arg) n.300T>G c.2838-87T>G (n.2838-87T>G) n.7100T>G n.269T>G n.313T>G n.855T>G c.2781T>G (p.Ser927Arg) c.2694T>G (p.Ser898Arg) c.1653T>G (p.Ser551Arg) | |
17 | g.46032254A>G | CA500372054 | KANSL1 | c.2883T>C (p.Ser961=) c.2880T>C (p.Ser960=) c.2691T>C (p.Ser897=) n.711T>C n.831T>C c.540T>C (p.Ser180=) n.300T>C c.2838-87T>C (n.2838-87T>C) n.7100T>C n.269T>C n.313T>C n.855T>C c.2781T>C (p.Ser927=) c.2694T>C (p.Ser898=) c.1653T>C (p.Ser551=) | |
17 | g.46032254A>T | CA399987276 | KANSL1 | c.2883T>A (p.Ser961Arg) c.2880T>A (p.Ser960Arg) c.2691T>A (p.Ser897Arg) n.711T>A n.831T>A c.540T>A (p.Ser180Arg) n.300T>A c.2838-87T>A (n.2838-87T>A) n.7100T>A n.269T>A n.313T>A n.855T>A c.2781T>A (p.Ser927Arg) c.2694T>A (p.Ser898Arg) c.1653T>A (p.Ser551Arg) | |
17 | g.46032255C>A | CA399987277 | KANSL1 | c.2882G>T (p.Ser961Ile) c.2879G>T (p.Ser960Ile) c.2690G>T (p.Ser897Ile) n.710G>T n.830G>T c.539G>T (p.Ser180Ile) n.299G>T c.2838-88G>T (n.2838-88G>T) n.7099G>T n.268G>T n.312G>T n.854G>T c.2780G>T (p.Ser927Ile) c.2693G>T (p.Ser898Ile) c.1652G>T (p.Ser551Ile) | |
17 | g.46032255C>G | CA399987279 | KANSL1 | c.2882G>C (p.Ser961Thr) c.2879G>C (p.Ser960Thr) c.2690G>C (p.Ser897Thr) n.710G>C n.830G>C c.539G>C (p.Ser180Thr) n.299G>C c.2838-88G>C (n.2838-88G>C) n.7099G>C n.268G>C n.312G>C n.854G>C c.2780G>C (p.Ser927Thr) c.2693G>C (p.Ser898Thr) c.1652G>C (p.Ser551Thr) | |
17 | g.46032255C>T | CA399987278 | KANSL1 | c.2882G>A (p.Ser961Asn) c.2879G>A (p.Ser960Asn) c.2690G>A (p.Ser897Asn) n.710G>A n.830G>A c.539G>A (p.Ser180Asn) n.299G>A c.2838-88G>A (n.2838-88G>A) n.7099G>A n.268G>A n.312G>A n.854G>A c.2780G>A (p.Ser927Asn) c.2693G>A (p.Ser898Asn) c.1652G>A (p.Ser551Asn) | gnomAD v4 |
17 | g.46032256T>A | CA399987280 | KANSL1 | c.2881A>T (p.Ser961Cys) c.2878A>T (p.Ser960Cys) c.2689A>T (p.Ser897Cys) n.709A>T n.829A>T c.538A>T (p.Ser180Cys) n.298A>T c.2838-89A>T (n.2838-89A>T) n.7098A>T n.267A>T n.311A>T n.853A>T c.2779A>T (p.Ser927Cys) c.2692A>T (p.Ser898Cys) c.1651A>T (p.Ser551Cys) | |
17 | g.46032256T>C | CA399987281 | KANSL1 | c.2881A>G (p.Ser961Gly) c.2878A>G (p.Ser960Gly) c.2689A>G (p.Ser897Gly) n.709A>G n.829A>G c.538A>G (p.Ser180Gly) n.298A>G c.2838-89A>G (n.2838-89A>G) n.7098A>G n.267A>G n.311A>G n.853A>G c.2779A>G (p.Ser927Gly) c.2692A>G (p.Ser898Gly) c.1651A>G (p.Ser551Gly) | gnomAD v4 |
17 | g.46032256T>G | CA399987282 | KANSL1 | c.2881A>C (p.Ser961Arg) c.2878A>C (p.Ser960Arg) c.2689A>C (p.Ser897Arg) n.709A>C n.829A>C c.538A>C (p.Ser180Arg) n.298A>C c.2838-89A>C (n.2838-89A>C) n.7098A>C n.267A>C n.311A>C n.853A>C c.2779A>C (p.Ser927Arg) c.2692A>C (p.Ser898Arg) c.1651A>C (p.Ser551Arg) | |
17 | g.46032257G>A | CA500372055 | KANSL1 | c.2880C>T (p.Gly960=) c.2877C>T (p.Gly959=) c.2688C>T (p.Gly896=) n.708C>T n.828C>T c.537C>T (p.Gly179=) c.2691C>T (p.Gly897=) n.297C>T c.2838-90C>T (n.2838-90C>T) n.7097C>T n.266C>T n.310C>T n.852C>T c.2778C>T (p.Gly926=) c.1650C>T (p.Gly550=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46032257G>C | CA500372056 | KANSL1 | c.2880C>G (p.Gly960=) c.2877C>G (p.Gly959=) c.2688C>G (p.Gly896=) n.708C>G n.828C>G c.537C>G (p.Gly179=) c.2691C>G (p.Gly897=) n.297C>G c.2838-90C>G (n.2838-90C>G) n.7097C>G n.266C>G n.310C>G n.852C>G c.2778C>G (p.Gly926=) c.1650C>G (p.Gly550=) | |
17 | g.46032257G= | CA2262111069 | KANSL1 | c.2880C= (p.Gly960=) c.2877C= (p.Gly959=) c.2688C= (p.Gly896=) n.708C= n.828C= c.537C= (p.Gly179=) c.2691C= (p.Gly897=) n.297C= c.2838-90C= (n.2838-90C=) n.7097C= n.266C= n.310C= n.852C= c.2778C= (p.Gly926=) c.1650C= (p.Gly550=) | |
17 | g.46032257G>T | CA500372057 | KANSL1 | c.2880C>A (p.Gly960=) c.2877C>A (p.Gly959=) c.2688C>A (p.Gly896=) n.708C>A n.828C>A c.537C>A (p.Gly179=) c.2691C>A (p.Gly897=) n.297C>A c.2838-90C>A (n.2838-90C>A) n.7097C>A n.266C>A n.310C>A n.852C>A c.2778C>A (p.Gly926=) c.1650C>A (p.Gly550=) | |
17 | g.46032258C>A | CA399987283 | KANSL1 | c.2879G>T (p.Gly960Val) c.2876G>T (p.Gly959Val) c.2687G>T (p.Gly896Val) n.707G>T n.827G>T c.536G>T (p.Gly179Val) c.2690G>T (p.Gly897Val) n.296G>T c.2838-91G>T (n.2838-91G>T) n.7096G>T n.265G>T n.309G>T n.851G>T c.2777G>T (p.Gly926Val) c.1649G>T (p.Gly550Val) | |
17 | g.46032258C= | CA2262111070 | KANSL1 | c.2879G= (p.Gly960=) c.2876G= (p.Gly959=) c.2687G= (p.Gly896=) n.707G= n.827G= c.536G= (p.Gly179=) c.2690G= (p.Gly897=) n.296G= c.2838-91G= (n.2838-91G=) n.7096G= n.265G= n.309G= n.851G= c.2777G= (p.Gly926=) c.1649G= (p.Gly550=) | |
17 | g.46032258C>G | CA399987284 | KANSL1 | c.2879G>C (p.Gly960Ala) c.2876G>C (p.Gly959Ala) c.2687G>C (p.Gly896Ala) n.707G>C n.827G>C c.536G>C (p.Gly179Ala) c.2690G>C (p.Gly897Ala) n.296G>C c.2838-91G>C (n.2838-91G>C) n.7096G>C n.265G>C n.309G>C n.851G>C c.2777G>C (p.Gly926Ala) c.1649G>C (p.Gly550Ala) | |
17 | g.46032258C>T | CA399987285 | KANSL1 | c.2879G>A (p.Gly960Asp) c.2876G>A (p.Gly959Asp) c.2687G>A (p.Gly896Asp) n.707G>A n.827G>A c.536G>A (p.Gly179Asp) c.2690G>A (p.Gly897Asp) n.296G>A c.2838-91G>A (n.2838-91G>A) n.7096G>A n.265G>A n.309G>A n.851G>A c.2777G>A (p.Gly926Asp) c.1649G>A (p.Gly550Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46032259C>A | CA399987286 | KANSL1 | c.2878G>T (p.Gly960Cys) c.2875G>T (p.Gly959Cys) c.2686G>T (p.Gly896Cys) n.706G>T n.826G>T c.535G>T (p.Gly179Cys) c.2689G>T (p.Gly897Cys) n.295G>T c.2838-92G>T (n.2838-92G>T) n.7095G>T n.264G>T n.308G>T n.850G>T c.2776G>T (p.Gly926Cys) c.1648G>T (p.Gly550Cys) | |
17 | g.46032259C= | CA2262111071 | KANSL1 | c.2878G= (p.Gly960=) c.2875G= (p.Gly959=) c.2686G= (p.Gly896=) n.706G= n.826G= c.535G= (p.Gly179=) c.2689G= (p.Gly897=) n.295G= c.2838-92G= (n.2838-92G=) n.7095G= n.264G= n.308G= n.850G= c.2776G= (p.Gly926=) c.1648G= (p.Gly550=) | |
17 | g.46032259C>G | CA399987287 | KANSL1 | c.2878G>C (p.Gly960Arg) c.2875G>C (p.Gly959Arg) c.2686G>C (p.Gly896Arg) n.706G>C n.826G>C c.535G>C (p.Gly179Arg) c.2689G>C (p.Gly897Arg) n.295G>C c.2838-92G>C (n.2838-92G>C) n.7095G>C n.264G>C n.308G>C n.850G>C c.2776G>C (p.Gly926Arg) c.1648G>C (p.Gly550Arg) | |
17 | g.46032259C>T | CA399987288 | KANSL1 | c.2878G>A (p.Gly960Ser) c.2875G>A (p.Gly959Ser) c.2686G>A (p.Gly896Ser) n.706G>A n.826G>A c.535G>A (p.Gly179Ser) c.2689G>A (p.Gly897Ser) n.295G>A c.2838-92G>A (n.2838-92G>A) n.7095G>A n.264G>A n.308G>A n.850G>A c.2776G>A (p.Gly926Ser) c.1648G>A (p.Gly550Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.46032260C>A | CA500372059 | KANSL1 | c.2877G>T (p.Leu959=) c.2874G>T (p.Leu958=) c.2685G>T (p.Leu895=) n.705G>T n.825G>T c.534G>T (p.Leu178=) c.2688G>T (p.Leu896=) n.294G>T c.2838-93G>T (n.2838-93G>T) n.7094G>T n.263G>T n.307G>T n.849G>T c.2775G>T (p.Leu925=) c.1647G>T (p.Leu549=) | ClinVar dbSNP |
17 | g.46032260C>G | CA500372058 | KANSL1 | c.2877G>C (p.Leu959=) c.2874G>C (p.Leu958=) c.2685G>C (p.Leu895=) n.705G>C n.825G>C c.534G>C (p.Leu178=) c.2688G>C (p.Leu896=) n.294G>C c.2838-93G>C (n.2838-93G>C) n.7094G>C n.263G>C n.307G>C n.849G>C c.2775G>C (p.Leu925=) c.1647G>C (p.Leu549=) | |
17 | g.46032260C>T | CA500372060 | KANSL1 | c.2877G>A (p.Leu959=) c.2874G>A (p.Leu958=) c.2685G>A (p.Leu895=) n.705G>A n.825G>A c.534G>A (p.Leu178=) c.2688G>A (p.Leu896=) n.294G>A c.2838-93G>A (n.2838-93G>A) n.7094G>A n.263G>A n.307G>A n.849G>A c.2775G>A (p.Leu925=) c.1647G>A (p.Leu549=) | |
17 | g.46032261A>C | CA399987289 | KANSL1 | c.2876T>G (p.Leu959Arg) c.2873T>G (p.Leu958Arg) c.2684T>G (p.Leu895Arg) n.704T>G n.824T>G c.533T>G (p.Leu178Arg) c.2687T>G (p.Leu896Arg) n.293T>G c.2838-94T>G (n.2838-94T>G) n.7093T>G n.262T>G n.306T>G n.848T>G c.2774T>G (p.Leu925Arg) c.1646T>G (p.Leu549Arg) | |
17 | g.46032261A>G | CA399987290 | KANSL1 | c.2876T>C (p.Leu959Pro) c.2873T>C (p.Leu958Pro) c.2684T>C (p.Leu895Pro) n.704T>C n.824T>C c.533T>C (p.Leu178Pro) c.2687T>C (p.Leu896Pro) n.293T>C c.2838-94T>C (n.2838-94T>C) n.7093T>C n.262T>C n.306T>C n.848T>C c.2774T>C (p.Leu925Pro) c.1646T>C (p.Leu549Pro) | gnomAD v4 |
17 | g.46032261A>T | CA399987291 | KANSL1 | c.2876T>A (p.Leu959Gln) c.2873T>A (p.Leu958Gln) c.2684T>A (p.Leu895Gln) n.704T>A n.824T>A c.533T>A (p.Leu178Gln) c.2687T>A (p.Leu896Gln) n.293T>A c.2838-94T>A (n.2838-94T>A) n.7093T>A n.262T>A n.306T>A n.848T>A c.2774T>A (p.Leu925Gln) c.1646T>A (p.Leu549Gln) | |
17 | g.46032262G>A | CA500372061 | KANSL1 | c.2875C>T (p.Leu959=) c.2872C>T (p.Leu958=) c.2683C>T (p.Leu895=) n.703C>T n.823C>T c.532C>T (p.Leu178=) c.2686C>T (p.Leu896=) n.292C>T c.2838-95C>T (n.2838-95C>T) n.7092C>T n.261C>T n.305C>T n.847C>T c.2773C>T (p.Leu925=) c.1645C>T (p.Leu549=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.46032262G>C | CA399987292 | KANSL1 | c.2875C>G (p.Leu959Val) c.2872C>G (p.Leu958Val) c.2683C>G (p.Leu895Val) n.703C>G n.823C>G c.532C>G (p.Leu178Val) c.2686C>G (p.Leu896Val) n.292C>G c.2838-95C>G (n.2838-95C>G) n.7092C>G n.261C>G n.305C>G n.847C>G c.2773C>G (p.Leu925Val) c.1645C>G (p.Leu549Val) | |
17 | g.46032262G= | CA2262111072 | KANSL1 | c.2875C= (p.Leu959=) c.2872C= (p.Leu958=) c.2683C= (p.Leu895=) n.703C= n.823C= c.532C= (p.Leu178=) c.2686C= (p.Leu896=) n.292C= c.2838-95C= (n.2838-95C=) n.7092C= n.261C= n.305C= n.847C= c.2773C= (p.Leu925=) c.1645C= (p.Leu549=) | |
17 | g.46032262G>T | CA399987293 | KANSL1 | c.2875C>A (p.Leu959Met) c.2872C>A (p.Leu958Met) c.2683C>A (p.Leu895Met) n.703C>A n.823C>A c.532C>A (p.Leu178Met) c.2686C>A (p.Leu896Met) n.292C>A c.2838-95C>A (n.2838-95C>A) n.7092C>A n.261C>A n.305C>A n.847C>A c.2773C>A (p.Leu925Met) c.1645C>A (p.Leu549Met) | gnomAD v4 |