Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.46031604_46031610dupCA2638370880KANSL1c.3185_3191dup (p.Arg1065LeufsTer?)
c.3182_3188dup (p.Arg1064LeufsTer?)
c.2993_2999dup (p.Arg1001LeufsTer?)
c.3053_3059dup (p.Arg1021LeufsTer?)
n.7402_7408dup
n.958_964dup
n.1157_1163dup
c.3083_3089dup (p.Arg1031LeufsTer?)
c.2996_3002dup (p.Arg1002LeufsTer?)
c.1955_1961dup (p.Arg655LeufsTer?)
gnomAD v4
17g.46031607A>CCA399985987KANSL1c.3187T>G (p.Cys1063Gly)
c.3184T>G (p.Cys1062Gly)
c.2995T>G (p.Cys999Gly)
c.3055T>G (p.Cys1019Gly)
n.7404T>G
n.960T>G
n.1159T>G
c.3085T>G (p.Cys1029Gly)
c.2998T>G (p.Cys1000Gly)
c.1957T>G (p.Cys653Gly)
17g.46031607A>GCA399985988KANSL1c.3187T>C (p.Cys1063Arg)
c.3184T>C (p.Cys1062Arg)
c.2995T>C (p.Cys999Arg)
c.3055T>C (p.Cys1019Arg)
n.7404T>C
n.960T>C
n.1159T>C
c.3085T>C (p.Cys1029Arg)
c.2998T>C (p.Cys1000Arg)
c.1957T>C (p.Cys653Arg)
gnomAD v4
17g.46031607A>TCA399985989KANSL1c.3187T>A (p.Cys1063Ser)
c.3184T>A (p.Cys1062Ser)
c.2995T>A (p.Cys999Ser)
c.3055T>A (p.Cys1019Ser)
n.7404T>A
n.960T>A
n.1159T>A
c.3085T>A (p.Cys1029Ser)
c.2998T>A (p.Cys1000Ser)
c.1957T>A (p.Cys653Ser)
17g.46031608G>ACA500371682KANSL1c.3186C>T (p.Arg1062=)
c.3183C>T (p.Arg1061=)
c.2994C>T (p.Arg998=)
c.3054C>T (p.Arg1018=)
n.7403C>T
n.959C>T
n.1158C>T
c.3084C>T (p.Arg1028=)
c.2997C>T (p.Arg999=)
c.1956C>T (p.Arg652=)
17g.46031608G>CCA500371681KANSL1c.3186C>G (p.Arg1062=)
c.3183C>G (p.Arg1061=)
c.2994C>G (p.Arg998=)
c.3054C>G (p.Arg1018=)
n.7403C>G
n.959C>G
n.1158C>G
c.3084C>G (p.Arg1028=)
c.2997C>G (p.Arg999=)
c.1956C>G (p.Arg652=)
17g.46031608G=CA2262110761KANSL1c.3186C= (p.Arg1062=)
c.3183C= (p.Arg1061=)
c.2994C= (p.Arg998=)
c.3054C= (p.Arg1018=)
n.7403C=
n.959C=
n.1158C=
c.3084C= (p.Arg1028=)
c.2997C= (p.Arg999=)
c.1956C= (p.Arg652=)
17g.46031608G>TCA8618349KANSL1c.3186C>A (p.Arg1062=)
c.3183C>A (p.Arg1061=)
c.2994C>A (p.Arg998=)
c.3054C>A (p.Arg1018=)
n.7403C>A
n.959C>A
n.1158C>A
c.3084C>A (p.Arg1028=)
c.2997C>A (p.Arg999=)
c.1956C>A (p.Arg652=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031609C>ACA399985990KANSL1c.3185G>T (p.Arg1062Leu)
c.3182G>T (p.Arg1061Leu)
c.2993G>T (p.Arg998Leu)
c.3053G>T (p.Arg1018Leu)
n.7402G>T
n.958G>T
n.1157G>T
c.3083G>T (p.Arg1028Leu)
c.2996G>T (p.Arg999Leu)
c.1955G>T (p.Arg652Leu)
17g.46031609C=CA2262110762KANSL1c.3185G= (p.Arg1062=)
c.3182G= (p.Arg1061=)
c.2993G= (p.Arg998=)
c.3053G= (p.Arg1018=)
n.7402G=
n.958G=
n.1157G=
c.3083G= (p.Arg1028=)
c.2996G= (p.Arg999=)
c.1955G= (p.Arg652=)
17g.46031609C>GCA399985991KANSL1c.3185G>C (p.Arg1062Pro)
c.3182G>C (p.Arg1061Pro)
c.2993G>C (p.Arg998Pro)
c.3053G>C (p.Arg1018Pro)
n.7402G>C
n.958G>C
n.1157G>C
c.3083G>C (p.Arg1028Pro)
c.2996G>C (p.Arg999Pro)
c.1955G>C (p.Arg652Pro)
17g.46031609C>TCA8618350KANSL1c.3185G>A (p.Arg1062His)
c.3182G>A (p.Arg1061His)
c.2993G>A (p.Arg998His)
c.3053G>A (p.Arg1018His)
n.7402G>A
n.958G>A
n.1157G>A
c.3083G>A (p.Arg1028His)
c.2996G>A (p.Arg999His)
c.1955G>A (p.Arg652His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031610G>ACA399985992KANSL1c.3184C>T (p.Arg1062Cys)
c.3181C>T (p.Arg1061Cys)
c.2992C>T (p.Arg998Cys)
c.3052C>T (p.Arg1018Cys)
n.7401C>T
n.957C>T
n.1156C>T
c.3082C>T (p.Arg1028Cys)
c.2995C>T (p.Arg999Cys)
c.1954C>T (p.Arg652Cys)
ClinVar dbSNP gnomAD v4
17g.46031610G>CCA399985993KANSL1c.3184C>G (p.Arg1062Gly)
c.3181C>G (p.Arg1061Gly)
c.2992C>G (p.Arg998Gly)
c.3052C>G (p.Arg1018Gly)
n.7401C>G
n.957C>G
n.1156C>G
c.3082C>G (p.Arg1028Gly)
c.2995C>G (p.Arg999Gly)
c.1954C>G (p.Arg652Gly)
17g.46031610G=CA2262110763KANSL1c.3184C= (p.Arg1062=)
c.3181C= (p.Arg1061=)
c.2992C= (p.Arg998=)
c.3052C= (p.Arg1018=)
n.7401C=
n.957C=
n.1156C=
c.3082C= (p.Arg1028=)
c.2995C= (p.Arg999=)
c.1954C= (p.Arg652=)
17g.46031610G>TCA399985994KANSL1c.3184C>A (p.Arg1062Ser)
c.3181C>A (p.Arg1061Ser)
c.2992C>A (p.Arg998Ser)
c.3052C>A (p.Arg1018Ser)
n.7401C>A
n.957C>A
n.1156C>A
c.3082C>A (p.Arg1028Ser)
c.2995C>A (p.Arg999Ser)
c.1954C>A (p.Arg652Ser)
17g.46031611G>ACA500371685KANSL1c.3183C>T (p.Ala1061=)
c.3180C>T (p.Ala1060=)
c.2991C>T (p.Ala997=)
c.3051C>T (p.Ala1017=)
n.7400C>T
n.956C>T
n.1155C>T
c.3081C>T (p.Ala1027=)
c.2994C>T (p.Ala998=)
c.1953C>T (p.Ala651=)
17g.46031611G>CCA500371683KANSL1c.3183C>G (p.Ala1061=)
c.3180C>G (p.Ala1060=)
c.2991C>G (p.Ala997=)
c.3051C>G (p.Ala1017=)
n.7400C>G
n.956C>G
n.1155C>G
c.3081C>G (p.Ala1027=)
c.2994C>G (p.Ala998=)
c.1953C>G (p.Ala651=)
gnomAD v4
17g.46031611G>TCA500371684KANSL1c.3183C>A (p.Ala1061=)
c.3180C>A (p.Ala1060=)
c.2991C>A (p.Ala997=)
c.3051C>A (p.Ala1017=)
n.7400C>A
n.956C>A
n.1155C>A
c.3081C>A (p.Ala1027=)
c.2994C>A (p.Ala998=)
c.1953C>A (p.Ala651=)
17g.46031612G>ACA399985997KANSL1c.3182C>T (p.Ala1061Val)
c.3179C>T (p.Ala1060Val)
c.2990C>T (p.Ala997Val)
c.3050C>T (p.Ala1017Val)
n.7399C>T
n.955C>T
n.1154C>T
c.3080C>T (p.Ala1027Val)
c.2993C>T (p.Ala998Val)
c.1952C>T (p.Ala651Val)
gnomAD v4
17g.46031612G>CCA399985996KANSL1c.3182C>G (p.Ala1061Gly)
c.3179C>G (p.Ala1060Gly)
c.2990C>G (p.Ala997Gly)
c.3050C>G (p.Ala1017Gly)
n.7399C>G
n.955C>G
n.1154C>G
c.3080C>G (p.Ala1027Gly)
c.2993C>G (p.Ala998Gly)
c.1952C>G (p.Ala651Gly)
17g.46031612G>TCA399985995KANSL1c.3182C>A (p.Ala1061Asp)
c.3179C>A (p.Ala1060Asp)
c.2990C>A (p.Ala997Asp)
c.3050C>A (p.Ala1017Asp)
n.7399C>A
n.955C>A
n.1154C>A
c.3080C>A (p.Ala1027Asp)
c.2993C>A (p.Ala998Asp)
c.1952C>A (p.Ala651Asp)
17g.46031613C>ACA399985998KANSL1c.3181G>T (p.Ala1061Ser)
c.3178G>T (p.Ala1060Ser)
c.2989G>T (p.Ala997Ser)
c.3049G>T (p.Ala1017Ser)
n.7398G>T
n.954G>T
n.1153G>T
c.3079G>T (p.Ala1027Ser)
c.2992G>T (p.Ala998Ser)
c.1951G>T (p.Ala651Ser)
17g.46031613C=CA2262110764KANSL1c.3181G= (p.Ala1061=)
c.3178G= (p.Ala1060=)
c.2989G= (p.Ala997=)
c.3049G= (p.Ala1017=)
n.7398G=
n.954G=
n.1153G=
c.3079G= (p.Ala1027=)
c.2992G= (p.Ala998=)
c.1951G= (p.Ala651=)
17g.46031613C>GCA399985999KANSL1c.3181G>C (p.Ala1061Pro)
c.3178G>C (p.Ala1060Pro)
c.2989G>C (p.Ala997Pro)
c.3049G>C (p.Ala1017Pro)
n.7398G>C
n.954G>C
n.1153G>C
c.3079G>C (p.Ala1027Pro)
c.2992G>C (p.Ala998Pro)
c.1951G>C (p.Ala651Pro)
17g.46031613C>TCA8618351KANSL1c.3181G>A (p.Ala1061Thr)
c.3178G>A (p.Ala1060Thr)
c.2989G>A (p.Ala997Thr)
c.3049G>A (p.Ala1017Thr)
n.7398G>A
n.954G>A
n.1153G>A
c.3079G>A (p.Ala1027Thr)
c.2992G>A (p.Ala998Thr)
c.1951G>A (p.Ala651Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031614T>ACA500371688KANSL1c.3180A>T (p.Ala1060=)
c.3177A>T (p.Ala1059=)
c.2988A>T (p.Ala996=)
c.3048A>T (p.Ala1016=)
n.7397A>T
n.953A>T
n.1152A>T
c.3078A>T (p.Ala1026=)
c.2991A>T (p.Ala997=)
c.1950A>T (p.Ala650=)
17g.46031614T>CCA500371687KANSL1c.3180A>G (p.Ala1060=)
c.3177A>G (p.Ala1059=)
c.2988A>G (p.Ala996=)
c.3048A>G (p.Ala1016=)
n.7397A>G
n.953A>G
n.1152A>G
c.3078A>G (p.Ala1026=)
c.2991A>G (p.Ala997=)
c.1950A>G (p.Ala650=)
gnomAD v4
17g.46031614T>GCA500371686KANSL1c.3180A>C (p.Ala1060=)
c.3177A>C (p.Ala1059=)
c.2988A>C (p.Ala996=)
c.3048A>C (p.Ala1016=)
n.7397A>C
n.953A>C
n.1152A>C
c.3078A>C (p.Ala1026=)
c.2991A>C (p.Ala997=)
c.1950A>C (p.Ala650=)
17g.46031615G>ACA399986000KANSL1c.3179C>T (p.Ala1060Val)
c.3176C>T (p.Ala1059Val)
c.2987C>T (p.Ala996Val)
c.3047C>T (p.Ala1016Val)
n.7396C>T
n.952C>T
n.1151C>T
c.3077C>T (p.Ala1026Val)
c.2990C>T (p.Ala997Val)
c.1949C>T (p.Ala650Val)
17g.46031615G>CCA399986001KANSL1c.3179C>G (p.Ala1060Gly)
c.3176C>G (p.Ala1059Gly)
c.2987C>G (p.Ala996Gly)
c.3047C>G (p.Ala1016Gly)
n.7396C>G
n.952C>G
n.1151C>G
c.3077C>G (p.Ala1026Gly)
c.2990C>G (p.Ala997Gly)
c.1949C>G (p.Ala650Gly)
17g.46031615G>TCA399986002KANSL1c.3179C>A (p.Ala1060Glu)
c.3176C>A (p.Ala1059Glu)
c.2987C>A (p.Ala996Glu)
c.3047C>A (p.Ala1016Glu)
n.7396C>A
n.952C>A
n.1151C>A
c.3077C>A (p.Ala1026Glu)
c.2990C>A (p.Ala997Glu)
c.1949C>A (p.Ala650Glu)
17g.46031616C>ACA399986003KANSL1c.3178G>T (p.Ala1060Ser)
c.3175G>T (p.Ala1059Ser)
c.2986G>T (p.Ala996Ser)
c.3046G>T (p.Ala1016Ser)
n.7395G>T
n.951G>T
n.1150G>T
c.3076G>T (p.Ala1026Ser)
c.2989G>T (p.Ala997Ser)
c.1948G>T (p.Ala650Ser)
17g.46031616C>GCA399986004KANSL1c.3178G>C (p.Ala1060Pro)
c.3175G>C (p.Ala1059Pro)
c.2986G>C (p.Ala996Pro)
c.3046G>C (p.Ala1016Pro)
n.7395G>C
n.951G>C
n.1150G>C
c.3076G>C (p.Ala1026Pro)
c.2989G>C (p.Ala997Pro)
c.1948G>C (p.Ala650Pro)
17g.46031616C>TCA399986005KANSL1c.3178G>A (p.Ala1060Thr)
c.3175G>A (p.Ala1059Thr)
c.2986G>A (p.Ala996Thr)
c.3046G>A (p.Ala1016Thr)
n.7395G>A
n.951G>A
n.1150G>A
c.3076G>A (p.Ala1026Thr)
c.2989G>A (p.Ala997Thr)
c.1948G>A (p.Ala650Thr)
17g.46031617T>ACA500371689KANSL1c.3177A>T (p.Arg1059=)
c.3174A>T (p.Arg1058=)
c.2985A>T (p.Arg995=)
c.3045A>T (p.Arg1015=)
n.7394A>T
n.950A>T
n.1149A>T
c.3075A>T (p.Arg1025=)
c.2988A>T (p.Arg996=)
c.1947A>T (p.Arg649=)
17g.46031617T>CCA8618352KANSL1c.3177A>G (p.Arg1059=)
c.3174A>G (p.Arg1058=)
c.2985A>G (p.Arg995=)
c.3045A>G (p.Arg1015=)
n.7394A>G
n.950A>G
n.1149A>G
c.3075A>G (p.Arg1025=)
c.2988A>G (p.Arg996=)
c.1947A>G (p.Arg649=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031617T>GCA500371690KANSL1c.3177A>C (p.Arg1059=)
c.3174A>C (p.Arg1058=)
c.2985A>C (p.Arg995=)
c.3045A>C (p.Arg1015=)
n.7394A>C
n.950A>C
n.1149A>C
c.3075A>C (p.Arg1025=)
c.2988A>C (p.Arg996=)
c.1947A>C (p.Arg649=)
gnomAD v4
17g.46031617T=CA2262110765KANSL1c.3177A= (p.Arg1059=)
c.3174A= (p.Arg1058=)
c.2985A= (p.Arg995=)
c.3045A= (p.Arg1015=)
n.7394A=
n.950A=
n.1149A=
c.3075A= (p.Arg1025=)
c.2988A= (p.Arg996=)
c.1947A= (p.Arg649=)
17g.46031618C>ACA399986006KANSL1c.3176G>T (p.Arg1059Leu)
c.3173G>T (p.Arg1058Leu)
c.2984G>T (p.Arg995Leu)
c.3044G>T (p.Arg1015Leu)
n.7393G>T
n.949G>T
n.1148G>T
c.3074G>T (p.Arg1025Leu)
c.2987G>T (p.Arg996Leu)
c.1946G>T (p.Arg649Leu)
17g.46031618C=CA2262110766KANSL1c.3176G= (p.Arg1059=)
c.3173G= (p.Arg1058=)
c.2984G= (p.Arg995=)
c.3044G= (p.Arg1015=)
n.7393G=
n.949G=
n.1148G=
c.3074G= (p.Arg1025=)
c.2987G= (p.Arg996=)
c.1946G= (p.Arg649=)
17g.46031618C>GCA399986007KANSL1c.3176G>C (p.Arg1059Pro)
c.3173G>C (p.Arg1058Pro)
c.2984G>C (p.Arg995Pro)
c.3044G>C (p.Arg1015Pro)
n.7393G>C
n.949G>C
n.1148G>C
c.3074G>C (p.Arg1025Pro)
c.2987G>C (p.Arg996Pro)
c.1946G>C (p.Arg649Pro)
17g.46031618C>TCA8618353KANSL1c.3176G>A (p.Arg1059Gln)
c.3173G>A (p.Arg1058Gln)
c.2984G>A (p.Arg995Gln)
c.3044G>A (p.Arg1015Gln)
n.7393G>A
n.949G>A
n.1148G>A
c.3074G>A (p.Arg1025Gln)
c.2987G>A (p.Arg996Gln)
c.1946G>A (p.Arg649Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031619G>ACA399986009KANSL1c.3175C>T (p.Arg1059Ter)
c.3172C>T (p.Arg1058Ter)
c.2983C>T (p.Arg995Ter)
c.3043C>T (p.Arg1015Ter)
n.7392C>T
n.948C>T
n.1147C>T
c.3073C>T (p.Arg1025Ter)
c.2986C>T (p.Arg996Ter)
c.1945C>T (p.Arg649Ter)
dbSNP COSMIC
17g.46031619G>CCA399986008KANSL1c.3175C>G (p.Arg1059Gly)
c.3172C>G (p.Arg1058Gly)
c.2983C>G (p.Arg995Gly)
c.3043C>G (p.Arg1015Gly)
n.7392C>G
n.948C>G
n.1147C>G
c.3073C>G (p.Arg1025Gly)
c.2986C>G (p.Arg996Gly)
c.1945C>G (p.Arg649Gly)
ClinVar dbSNP gnomAD v4
17g.46031619G=CA2262110767KANSL1c.3175C= (p.Arg1059=)
c.3172C= (p.Arg1058=)
c.2983C= (p.Arg995=)
c.3043C= (p.Arg1015=)
n.7392C=
n.948C=
n.1147C=
c.3073C= (p.Arg1025=)
c.2986C= (p.Arg996=)
c.1945C= (p.Arg649=)
17g.46031619G>TCA500371691KANSL1c.3175C>A (p.Arg1059=)
c.3172C>A (p.Arg1058=)
c.2983C>A (p.Arg995=)
c.3043C>A (p.Arg1015=)
n.7392C>A
n.948C>A
n.1147C>A
c.3073C>A (p.Arg1025=)
c.2986C>A (p.Arg996=)
c.1945C>A (p.Arg649=)
17g.46031620C>ACA399986010KANSL1c.3174G>T (p.Glu1058Asp)
c.3171G>T (p.Glu1057Asp)
c.2982G>T (p.Glu994Asp)
c.3042G>T (p.Glu1014Asp)
n.7391G>T
n.947G>T
n.1146G>T
c.3072G>T (p.Glu1024Asp)
c.2985G>T (p.Glu995Asp)
c.1944G>T (p.Glu648Asp)
17g.46031620C>GCA399986011KANSL1c.3174G>C (p.Glu1058Asp)
c.3171G>C (p.Glu1057Asp)
c.2982G>C (p.Glu994Asp)
c.3042G>C (p.Glu1014Asp)
n.7391G>C
n.947G>C
n.1146G>C
c.3072G>C (p.Glu1024Asp)
c.2985G>C (p.Glu995Asp)
c.1944G>C (p.Glu648Asp)
17g.46031620C>TCA500371692KANSL1c.3174G>A (p.Glu1058=)
c.3171G>A (p.Glu1057=)
c.2982G>A (p.Glu994=)
c.3042G>A (p.Glu1014=)
n.7391G>A
n.947G>A
n.1146G>A
c.3072G>A (p.Glu1024=)
c.2985G>A (p.Glu995=)
c.1944G>A (p.Glu648=)
gnomAD v4
17g.46031621T>ACA399986012KANSL1c.3173A>T (p.Glu1058Val)
c.3170A>T (p.Glu1057Val)
c.2981A>T (p.Glu994Val)
c.3041A>T (p.Glu1014Val)
n.7390A>T
n.946A>T
n.1145A>T
c.3071A>T (p.Glu1024Val)
c.2984A>T (p.Glu995Val)
c.1943A>T (p.Glu648Val)
17g.46031621T>CCA399986013KANSL1c.3173A>G (p.Glu1058Gly)
c.3170A>G (p.Glu1057Gly)
c.2981A>G (p.Glu994Gly)
c.3041A>G (p.Glu1014Gly)
n.7390A>G
n.946A>G
n.1145A>G
c.3071A>G (p.Glu1024Gly)
c.2984A>G (p.Glu995Gly)
c.1943A>G (p.Glu648Gly)
17g.46031621T>GCA399986014KANSL1c.3173A>C (p.Glu1058Ala)
c.3170A>C (p.Glu1057Ala)
c.2981A>C (p.Glu994Ala)
c.3041A>C (p.Glu1014Ala)
n.7390A>C
n.946A>C
n.1145A>C
c.3071A>C (p.Glu1024Ala)
c.2984A>C (p.Glu995Ala)
c.1943A>C (p.Glu648Ala)
17g.46031622C>ACA399986015KANSL1c.3172G>T (p.Glu1058Ter)
c.3169G>T (p.Glu1057Ter)
c.2980G>T (p.Glu994Ter)
c.3040G>T (p.Glu1014Ter)
n.7389G>T
n.945G>T
n.1144G>T
c.3070G>T (p.Glu1024Ter)
c.2983G>T (p.Glu995Ter)
c.1942G>T (p.Glu648Ter)
ClinVar
17g.46031622C>GCA399986016KANSL1c.3172G>C (p.Glu1058Gln)
c.3169G>C (p.Glu1057Gln)
c.2980G>C (p.Glu994Gln)
c.3040G>C (p.Glu1014Gln)
n.7389G>C
n.945G>C
n.1144G>C
c.3070G>C (p.Glu1024Gln)
c.2983G>C (p.Glu995Gln)
c.1942G>C (p.Glu648Gln)
17g.46031622C>TCA399986017KANSL1c.3172G>A (p.Glu1058Lys)
c.3169G>A (p.Glu1057Lys)
c.2980G>A (p.Glu994Lys)
c.3040G>A (p.Glu1014Lys)
n.7389G>A
n.945G>A
n.1144G>A
c.3070G>A (p.Glu1024Lys)
c.2983G>A (p.Glu995Lys)
c.1942G>A (p.Glu648Lys)
17g.46031623C>ACA399986018KANSL1c.3171G>T (p.Gln1057His)
c.3168G>T (p.Gln1056His)
c.2979G>T (p.Gln993His)
c.3039G>T (p.Gln1013His)
n.7388G>T
n.944G>T
n.1143G>T
c.3069G>T (p.Gln1023His)
c.2982G>T (p.Gln994His)
c.1941G>T (p.Gln647His)
17g.46031623C>GCA399986019KANSL1c.3171G>C (p.Gln1057His)
c.3168G>C (p.Gln1056His)
c.2979G>C (p.Gln993His)
c.3039G>C (p.Gln1013His)
n.7388G>C
n.944G>C
n.1143G>C
c.3069G>C (p.Gln1023His)
c.2982G>C (p.Gln994His)
c.1941G>C (p.Gln647His)
17g.46031623C>TCA500371693KANSL1c.3171G>A (p.Gln1057=)
c.3168G>A (p.Gln1056=)
c.2979G>A (p.Gln993=)
c.3039G>A (p.Gln1013=)
n.7388G>A
n.944G>A
n.1143G>A
c.3069G>A (p.Gln1023=)
c.2982G>A (p.Gln994=)
c.1941G>A (p.Gln647=)
gnomAD v4
17g.46031624T>ACA399986020KANSL1c.3170A>T (p.Gln1057Leu)
c.3167A>T (p.Gln1056Leu)
c.2978A>T (p.Gln993Leu)
c.3038A>T (p.Gln1013Leu)
n.7387A>T
n.943A>T
n.1142A>T
c.3068A>T (p.Gln1023Leu)
c.2981A>T (p.Gln994Leu)
c.1940A>T (p.Gln647Leu)
dbSNP gnomAD v2
17g.46031624T>CCA315140KANSL1c.3170A>G (p.Gln1057Arg)
c.3167A>G (p.Gln1056Arg)
c.2978A>G (p.Gln993Arg)
c.3038A>G (p.Gln1013Arg)
n.7387A>G
n.943A>G
n.1142A>G
c.3068A>G (p.Gln1023Arg)
c.2981A>G (p.Gln994Arg)
c.1940A>G (p.Gln647Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031624T>GCA399986021KANSL1c.3170A>C (p.Gln1057Pro)
c.3167A>C (p.Gln1056Pro)
c.2978A>C (p.Gln993Pro)
c.3038A>C (p.Gln1013Pro)
n.7387A>C
n.943A>C
n.1142A>C
c.3068A>C (p.Gln1023Pro)
c.2981A>C (p.Gln994Pro)
c.1940A>C (p.Gln647Pro)
17g.46031624T=CA2262110768KANSL1c.3170A= (p.Gln1057=)
c.3167A= (p.Gln1056=)
c.2978A= (p.Gln993=)
c.3038A= (p.Gln1013=)
n.7387A=
n.943A=
n.1142A=
c.3068A= (p.Gln1023=)
c.2981A= (p.Gln994=)
c.1940A= (p.Gln647=)
17g.46031625G>ACA399986024KANSL1c.3169C>T (p.Gln1057Ter)
c.3166C>T (p.Gln1056Ter)
c.2977C>T (p.Gln993Ter)
c.3037C>T (p.Gln1013Ter)
n.7386C>T
n.942C>T
n.1141C>T
c.3067C>T (p.Gln1023Ter)
c.2980C>T (p.Gln994Ter)
c.1939C>T (p.Gln647Ter)
17g.46031625G>CCA399986023KANSL1c.3169C>G (p.Gln1057Glu)
c.3166C>G (p.Gln1056Glu)
c.2977C>G (p.Gln993Glu)
c.3037C>G (p.Gln1013Glu)
n.7386C>G
n.942C>G
n.1141C>G
c.3067C>G (p.Gln1023Glu)
c.2980C>G (p.Gln994Glu)
c.1939C>G (p.Gln647Glu)
ClinVar
17g.46031625G>TCA399986022KANSL1c.3169C>A (p.Gln1057Lys)
c.3166C>A (p.Gln1056Lys)
c.2977C>A (p.Gln993Lys)
c.3037C>A (p.Gln1013Lys)
n.7386C>A
n.942C>A
n.1141C>A
c.3067C>A (p.Gln1023Lys)
c.2980C>A (p.Gln994Lys)
c.1939C>A (p.Gln647Lys)
17g.46031626T>ACA8618354KANSL1c.3168A>T (p.Ala1056=)
c.3165A>T (p.Ala1055=)
c.2976A>T (p.Ala992=)
c.3036A>T (p.Ala1012=)
n.7385A>T
n.941A>T
n.1140A>T
c.3066A>T (p.Ala1022=)
c.2979A>T (p.Ala993=)
c.1938A>T (p.Ala646=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031626T>CCA500371694KANSL1c.3168A>G (p.Ala1056=)
c.3165A>G (p.Ala1055=)
c.2976A>G (p.Ala992=)
c.3036A>G (p.Ala1012=)
n.7385A>G
n.941A>G
n.1140A>G
c.3066A>G (p.Ala1022=)
c.2979A>G (p.Ala993=)
c.1938A>G (p.Ala646=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46031626T>GCA500371695KANSL1c.3168A>C (p.Ala1056=)
c.3165A>C (p.Ala1055=)
c.2976A>C (p.Ala992=)
c.3036A>C (p.Ala1012=)
n.7385A>C
n.941A>C
n.1140A>C
c.3066A>C (p.Ala1022=)
c.2979A>C (p.Ala993=)
c.1938A>C (p.Ala646=)
17g.46031626T=CA2262110769KANSL1c.3168A= (p.Ala1056=)
c.3165A= (p.Ala1055=)
c.2976A= (p.Ala992=)
c.3036A= (p.Ala1012=)
n.7385A=
n.941A=
n.1140A=
c.3066A= (p.Ala1022=)
c.2979A= (p.Ala993=)
c.1938A= (p.Ala646=)
17g.46031627G>ACA399986026KANSL1c.3167C>T (p.Ala1056Val)
c.3164C>T (p.Ala1055Val)
c.2975C>T (p.Ala992Val)
c.3035C>T (p.Ala1012Val)
n.7384C>T
n.940C>T
n.1139C>T
c.3065C>T (p.Ala1022Val)
c.2978C>T (p.Ala993Val)
c.1937C>T (p.Ala646Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46031627G>CCA399986025KANSL1c.3167C>G (p.Ala1056Gly)
c.3164C>G (p.Ala1055Gly)
c.2975C>G (p.Ala992Gly)
c.3035C>G (p.Ala1012Gly)
n.7384C>G
n.940C>G
n.1139C>G
c.3065C>G (p.Ala1022Gly)
c.2978C>G (p.Ala993Gly)
c.1937C>G (p.Ala646Gly)
17g.46031627G=CA2262110770KANSL1c.3167C= (p.Ala1056=)
c.3164C= (p.Ala1055=)
c.2975C= (p.Ala992=)
c.3035C= (p.Ala1012=)
n.7384C=
n.940C=
n.1139C=
c.3065C= (p.Ala1022=)
c.2978C= (p.Ala993=)
c.1937C= (p.Ala646=)
17g.46031627G>TCA399986027KANSL1c.3167C>A (p.Ala1056Glu)
c.3164C>A (p.Ala1055Glu)
c.2975C>A (p.Ala992Glu)
c.3035C>A (p.Ala1012Glu)
n.7384C>A
n.940C>A
n.1139C>A
c.3065C>A (p.Ala1022Glu)
c.2978C>A (p.Ala993Glu)
c.1937C>A (p.Ala646Glu)
17g.46031628C>ACA399986028KANSL1c.3166G>T (p.Ala1056Ser)
c.3163G>T (p.Ala1055Ser)
c.2974G>T (p.Ala992Ser)
c.3034G>T (p.Ala1012Ser)
n.7383G>T
n.939G>T
n.1138G>T
c.3064G>T (p.Ala1022Ser)
c.2977G>T (p.Ala993Ser)
c.1936G>T (p.Ala646Ser)
17g.46031628C>GCA399986029KANSL1c.3166G>C (p.Ala1056Pro)
c.3163G>C (p.Ala1055Pro)
c.2974G>C (p.Ala992Pro)
c.3034G>C (p.Ala1012Pro)
n.7383G>C
n.939G>C
n.1138G>C
c.3064G>C (p.Ala1022Pro)
c.2977G>C (p.Ala993Pro)
c.1936G>C (p.Ala646Pro)
17g.46031628C>TCA399986030KANSL1c.3166G>A (p.Ala1056Thr)
c.3163G>A (p.Ala1055Thr)
c.2974G>A (p.Ala992Thr)
c.3034G>A (p.Ala1012Thr)
n.7383G>A
n.939G>A
n.1138G>A
c.3064G>A (p.Ala1022Thr)
c.2977G>A (p.Ala993Thr)
c.1936G>A (p.Ala646Thr)
gnomAD v4
17g.46031629A>CCA399986031KANSL1c.3165T>G (p.Asp1055Glu)
c.3162T>G (p.Asp1054Glu)
c.2973T>G (p.Asp991Glu)
c.3033T>G (p.Asp1011Glu)
n.7382T>G
n.938T>G
n.1137T>G
c.3063T>G (p.Asp1021Glu)
c.2976T>G (p.Asp992Glu)
c.1935T>G (p.Asp645Glu)
gnomAD v4
17g.46031629A>GCA500371696KANSL1c.3165T>C (p.Asp1055=)
c.3162T>C (p.Asp1054=)
c.2973T>C (p.Asp991=)
c.3033T>C (p.Asp1011=)
n.7382T>C
n.938T>C
n.1137T>C
c.3063T>C (p.Asp1021=)
c.2976T>C (p.Asp992=)
c.1935T>C (p.Asp645=)
gnomAD v4
17g.46031629A>TCA399986032KANSL1c.3165T>A (p.Asp1055Glu)
c.3162T>A (p.Asp1054Glu)
c.2973T>A (p.Asp991Glu)
c.3033T>A (p.Asp1011Glu)
n.7382T>A
n.938T>A
n.1137T>A
c.3063T>A (p.Asp1021Glu)
c.2976T>A (p.Asp992Glu)
c.1935T>A (p.Asp645Glu)
17g.46031630T>ACA399986033KANSL1c.3164A>T (p.Asp1055Val)
c.3161A>T (p.Asp1054Val)
c.2972A>T (p.Asp991Val)
c.3032A>T (p.Asp1011Val)
n.7381A>T
n.937A>T
n.1136A>T
c.3062A>T (p.Asp1021Val)
c.2975A>T (p.Asp992Val)
c.1934A>T (p.Asp645Val)
17g.46031630T>CCA399986034KANSL1c.3164A>G (p.Asp1055Gly)
c.3161A>G (p.Asp1054Gly)
c.2972A>G (p.Asp991Gly)
c.3032A>G (p.Asp1011Gly)
n.7381A>G
n.937A>G
n.1136A>G
c.3062A>G (p.Asp1021Gly)
c.2975A>G (p.Asp992Gly)
c.1934A>G (p.Asp645Gly)
ClinVar
17g.46031630T>GCA399986035KANSL1c.3164A>C (p.Asp1055Ala)
c.3161A>C (p.Asp1054Ala)
c.2972A>C (p.Asp991Ala)
c.3032A>C (p.Asp1011Ala)
n.7381A>C
n.937A>C
n.1136A>C
c.3062A>C (p.Asp1021Ala)
c.2975A>C (p.Asp992Ala)
c.1934A>C (p.Asp645Ala)
17g.46031631C>ACA291125382KANSL1c.3163G>T (p.Asp1055Tyr)
c.3160G>T (p.Asp1054Tyr)
c.2971G>T (p.Asp991Tyr)
c.3031G>T (p.Asp1011Tyr)
n.7380G>T
n.936G>T
n.1135G>T
c.3061G>T (p.Asp1021Tyr)
c.2974G>T (p.Asp992Tyr)
c.1933G>T (p.Asp645Tyr)
dbSNP
17g.46031631C=CA2262110771KANSL1c.3163G= (p.Asp1055=)
c.3160G= (p.Asp1054=)
c.2971G= (p.Asp991=)
c.3031G= (p.Asp1011=)
n.7380G=
n.936G=
n.1135G=
c.3061G= (p.Asp1021=)
c.2974G= (p.Asp992=)
c.1933G= (p.Asp645=)
17g.46031631C>GCA399986036KANSL1c.3163G>C (p.Asp1055His)
c.3160G>C (p.Asp1054His)
c.2971G>C (p.Asp991His)
c.3031G>C (p.Asp1011His)
n.7380G>C
n.936G>C
n.1135G>C
c.3061G>C (p.Asp1021His)
c.2974G>C (p.Asp992His)
c.1933G>C (p.Asp645His)
17g.46031631C>TCA399986037KANSL1c.3163G>A (p.Asp1055Asn)
c.3160G>A (p.Asp1054Asn)
c.2971G>A (p.Asp991Asn)
c.3031G>A (p.Asp1011Asn)
n.7380G>A
n.936G>A
n.1135G>A
c.3061G>A (p.Asp1021Asn)
c.2974G>A (p.Asp992Asn)
c.1933G>A (p.Asp645Asn)
17g.46031632C>ACA500371699KANSL1c.3162G>T (p.Leu1054=)
c.3159G>T (p.Leu1053=)
c.2970G>T (p.Leu990=)
c.3030G>T (p.Leu1010=)
n.7379G>T
n.935G>T
n.1134G>T
c.3060G>T (p.Leu1020=)
c.2973G>T (p.Leu991=)
c.1932G>T (p.Leu644=)
ClinVar
17g.46031632C>GCA500371697KANSL1c.3162G>C (p.Leu1054=)
c.3159G>C (p.Leu1053=)
c.2970G>C (p.Leu990=)
c.3030G>C (p.Leu1010=)
n.7379G>C
n.935G>C
n.1134G>C
c.3060G>C (p.Leu1020=)
c.2973G>C (p.Leu991=)
c.1932G>C (p.Leu644=)
17g.46031632C>TCA500371698KANSL1c.3162G>A (p.Leu1054=)
c.3159G>A (p.Leu1053=)
c.2970G>A (p.Leu990=)
c.3030G>A (p.Leu1010=)
n.7379G>A
n.935G>A
n.1134G>A
c.3060G>A (p.Leu1020=)
c.2973G>A (p.Leu991=)
c.1932G>A (p.Leu644=)
17g.46031633A>CCA399986040KANSL1c.3161T>G (p.Leu1054Arg)
c.3158T>G (p.Leu1053Arg)
c.2969T>G (p.Leu990Arg)
c.3029T>G (p.Leu1010Arg)
n.7378T>G
n.934T>G
n.1133T>G
c.3059T>G (p.Leu1020Arg)
c.2972T>G (p.Leu991Arg)
c.1931T>G (p.Leu644Arg)
17g.46031633A>GCA399986039KANSL1c.3161T>C (p.Leu1054Pro)
c.3158T>C (p.Leu1053Pro)
c.2969T>C (p.Leu990Pro)
c.3029T>C (p.Leu1010Pro)
n.7378T>C
n.934T>C
n.1133T>C
c.3059T>C (p.Leu1020Pro)
c.2972T>C (p.Leu991Pro)
c.1931T>C (p.Leu644Pro)
17g.46031633A>TCA399986038KANSL1c.3161T>A (p.Leu1054Gln)
c.3158T>A (p.Leu1053Gln)
c.2969T>A (p.Leu990Gln)
c.3029T>A (p.Leu1010Gln)
n.7378T>A
n.934T>A
n.1133T>A
c.3059T>A (p.Leu1020Gln)
c.2972T>A (p.Leu991Gln)
c.1931T>A (p.Leu644Gln)
17g.46031634G>ACA500371700KANSL1c.3160C>T (p.Leu1054=)
c.3157C>T (p.Leu1053=)
c.2968C>T (p.Leu990=)
c.3028C>T (p.Leu1010=)
n.7377C>T
n.933C>T
n.1132C>T
c.3058C>T (p.Leu1020=)
c.2971C>T (p.Leu991=)
c.1930C>T (p.Leu644=)
dbSNP gnomAD v2 gnomAD v4
17g.46031634G>CCA399986041KANSL1c.3160C>G (p.Leu1054Val)
c.3157C>G (p.Leu1053Val)
c.2968C>G (p.Leu990Val)
c.3028C>G (p.Leu1010Val)
n.7377C>G
n.933C>G
n.1132C>G
c.3058C>G (p.Leu1020Val)
c.2971C>G (p.Leu991Val)
c.1930C>G (p.Leu644Val)
17g.46031634G=CA2262110772KANSL1c.3160C= (p.Leu1054=)
c.3157C= (p.Leu1053=)
c.2968C= (p.Leu990=)
c.3028C= (p.Leu1010=)
n.7377C=
n.933C=
n.1132C=
c.3058C= (p.Leu1020=)
c.2971C= (p.Leu991=)
c.1930C= (p.Leu644=)
17g.46031634G>TCA399986042KANSL1c.3160C>A (p.Leu1054Met)
c.3157C>A (p.Leu1053Met)
c.2968C>A (p.Leu990Met)
c.3028C>A (p.Leu1010Met)
n.7377C>A
n.933C>A
n.1132C>A
c.3058C>A (p.Leu1020Met)
c.2971C>A (p.Leu991Met)
c.1930C>A (p.Leu644Met)
17g.46031635C>ACA399986043KANSL1c.3159G>T (p.Gln1053His)
c.3156G>T (p.Gln1052His)
c.2967G>T (p.Gln989His)
c.3027G>T (p.Gln1009His)
n.7376G>T
n.932G>T
n.1131G>T
c.3057G>T (p.Gln1019His)
c.2970G>T (p.Gln990His)
c.1929G>T (p.Gln643His)
17g.46031635C=CA2262110773KANSL1c.3159G= (p.Gln1053=)
c.3156G= (p.Gln1052=)
c.2967G= (p.Gln989=)
c.3027G= (p.Gln1009=)
n.7376G=
n.932G=
n.1131G=
c.3057G= (p.Gln1019=)
c.2970G= (p.Gln990=)
c.1929G= (p.Gln643=)
17g.46031635C>GCA8618355KANSL1c.3159G>C (p.Gln1053His)
c.3156G>C (p.Gln1052His)
c.2967G>C (p.Gln989His)
c.3027G>C (p.Gln1009His)
n.7376G>C
n.932G>C
n.1131G>C
c.3057G>C (p.Gln1019His)
c.2970G>C (p.Gln990His)
c.1929G>C (p.Gln643His)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031635C>TCA500371701KANSL1c.3159G>A (p.Gln1053=)
c.3156G>A (p.Gln1052=)
c.2967G>A (p.Gln989=)
c.3027G>A (p.Gln1009=)
n.7376G>A
n.932G>A
n.1131G>A
c.3057G>A (p.Gln1019=)
c.2970G>A (p.Gln990=)
c.1929G>A (p.Gln643=)
17g.46031636T>ACA399986044KANSL1c.3158A>T (p.Gln1053Leu)
c.3155A>T (p.Gln1052Leu)
c.2966A>T (p.Gln989Leu)
c.3026A>T (p.Gln1009Leu)
n.7375A>T
n.931A>T
n.1130A>T
c.3056A>T (p.Gln1019Leu)
c.2969A>T (p.Gln990Leu)
c.1928A>T (p.Gln643Leu)
17g.46031636T>CCA16607691KANSL1c.3158A>G (p.Gln1053Arg)
c.3155A>G (p.Gln1052Arg)
c.2966A>G (p.Gln989Arg)
c.3026A>G (p.Gln1009Arg)
n.7375A>G
n.931A>G
n.1130A>G
c.3056A>G (p.Gln1019Arg)
c.2969A>G (p.Gln990Arg)
c.1928A>G (p.Gln643Arg)
ClinVar dbSNP
17g.46031636T>GCA399986045KANSL1c.3158A>C (p.Gln1053Pro)
c.3155A>C (p.Gln1052Pro)
c.2966A>C (p.Gln989Pro)
c.3026A>C (p.Gln1009Pro)
n.7375A>C
n.931A>C
n.1130A>C
c.3056A>C (p.Gln1019Pro)
c.2969A>C (p.Gln990Pro)
c.1928A>C (p.Gln643Pro)
17g.46031636T=CA2262110774KANSL1c.3158A= (p.Gln1053=)
c.3155A= (p.Gln1052=)
c.2966A= (p.Gln989=)
c.3026A= (p.Gln1009=)
n.7375A=
n.931A=
n.1130A=
c.3056A= (p.Gln1019=)
c.2969A= (p.Gln990=)
c.1928A= (p.Gln643=)
17g.46031637G>ACA399986046KANSL1c.3157C>T (p.Gln1053Ter)
c.3154C>T (p.Gln1052Ter)
c.2965C>T (p.Gln989Ter)
c.3025C>T (p.Gln1009Ter)
n.7374C>T
n.930C>T
n.1129C>T
c.3055C>T (p.Gln1019Ter)
c.2968C>T (p.Gln990Ter)
c.1927C>T (p.Gln643Ter)
17g.46031637G>CCA399986047KANSL1c.3157C>G (p.Gln1053Glu)
c.3154C>G (p.Gln1052Glu)
c.2965C>G (p.Gln989Glu)
c.3025C>G (p.Gln1009Glu)
n.7374C>G
n.930C>G
n.1129C>G
c.3055C>G (p.Gln1019Glu)
c.2968C>G (p.Gln990Glu)
c.1927C>G (p.Gln643Glu)
17g.46031637G>TCA399986048KANSL1c.3157C>A (p.Gln1053Lys)
c.3154C>A (p.Gln1052Lys)
c.2965C>A (p.Gln989Lys)
c.3025C>A (p.Gln1009Lys)
n.7374C>A
n.930C>A
n.1129C>A
c.3055C>A (p.Gln1019Lys)
c.2968C>A (p.Gln990Lys)
c.1927C>A (p.Gln643Lys)
17g.46031638dupCA2638370942KANSL1c.3157dup (p.Gln1053ProfsTer?)
c.3154dup (p.Gln1052ProfsTer?)
c.2965dup (p.Gln989ProfsTer?)
c.3025dup (p.Gln1009ProfsTer?)
n.7374dup
n.930dup
n.1129dup
c.3055dup (p.Gln1019ProfsTer?)
c.2968dup (p.Gln990ProfsTer?)
c.1927dup (p.Gln643ProfsTer?)
gnomAD v4
17g.46031638G>ACA500371702KANSL1c.3156C>T (p.Asp1052=)
c.3153C>T (p.Asp1051=)
c.2964C>T (p.Asp988=)
c.3024C>T (p.Asp1008=)
n.7373C>T
n.929C>T
n.1128C>T
c.3054C>T (p.Asp1018=)
c.2967C>T (p.Asp989=)
c.1926C>T (p.Asp642=)
dbSNP gnomAD v2 gnomAD v4
17g.46031638G>CCA399986049KANSL1c.3156C>G (p.Asp1052Glu)
c.3153C>G (p.Asp1051Glu)
c.2964C>G (p.Asp988Glu)
c.3024C>G (p.Asp1008Glu)
n.7373C>G
n.929C>G
n.1128C>G
c.3054C>G (p.Asp1018Glu)
c.2967C>G (p.Asp989Glu)
c.1926C>G (p.Asp642Glu)
17g.46031638G=CA2262110775KANSL1c.3156C= (p.Asp1052=)
c.3153C= (p.Asp1051=)
c.2964C= (p.Asp988=)
c.3024C= (p.Asp1008=)
n.7373C=
n.929C=
n.1128C=
c.3054C= (p.Asp1018=)
c.2967C= (p.Asp989=)
c.1926C= (p.Asp642=)
17g.46031638G>TCA399986050KANSL1c.3156C>A (p.Asp1052Glu)
c.3153C>A (p.Asp1051Glu)
c.2964C>A (p.Asp988Glu)
c.3024C>A (p.Asp1008Glu)
n.7373C>A
n.929C>A
n.1128C>A
c.3054C>A (p.Asp1018Glu)
c.2967C>A (p.Asp989Glu)
c.1926C>A (p.Asp642Glu)
17g.46031639T>ACA399986053KANSL1c.3155A>T (p.Asp1052Val)
c.3152A>T (p.Asp1051Val)
c.2963A>T (p.Asp988Val)
c.3023A>T (p.Asp1008Val)
n.7372A>T
n.928A>T
n.1127A>T
c.3053A>T (p.Asp1018Val)
c.2966A>T (p.Asp989Val)
c.1925A>T (p.Asp642Val)
ClinVar
17g.46031639T>CCA399986052KANSL1c.3155A>G (p.Asp1052Gly)
c.3152A>G (p.Asp1051Gly)
c.2963A>G (p.Asp988Gly)
c.3023A>G (p.Asp1008Gly)
n.7372A>G
n.928A>G
n.1127A>G
c.3053A>G (p.Asp1018Gly)
c.2966A>G (p.Asp989Gly)
c.1925A>G (p.Asp642Gly)
17g.46031639T>GCA399986051KANSL1c.3155A>C (p.Asp1052Ala)
c.3152A>C (p.Asp1051Ala)
c.2963A>C (p.Asp988Ala)
c.3023A>C (p.Asp1008Ala)
n.7372A>C
n.928A>C
n.1127A>C
c.3053A>C (p.Asp1018Ala)
c.2966A>C (p.Asp989Ala)
c.1925A>C (p.Asp642Ala)
17g.46031640C>ACA399986055KANSL1c.3154G>T (p.Asp1052Tyr)
c.3151G>T (p.Asp1051Tyr)
c.2962G>T (p.Asp988Tyr)
c.3022G>T (p.Asp1008Tyr)
n.7371G>T
n.927G>T
n.1126G>T
c.3052G>T (p.Asp1018Tyr)
c.2965G>T (p.Asp989Tyr)
c.1924G>T (p.Asp642Tyr)
17g.46031640C=CA2262110776KANSL1c.3154G= (p.Asp1052=)
c.3151G= (p.Asp1051=)
c.2962G= (p.Asp988=)
c.3022G= (p.Asp1008=)
n.7371G=
n.927G=
n.1126G=
c.3052G= (p.Asp1018=)
c.2965G= (p.Asp989=)
c.1924G= (p.Asp642=)
17g.46031640C>GCA399986054KANSL1c.3154G>C (p.Asp1052His)
c.3151G>C (p.Asp1051His)
c.2962G>C (p.Asp988His)
c.3022G>C (p.Asp1008His)
n.7371G>C
n.927G>C
n.1126G>C
c.3052G>C (p.Asp1018His)
c.2965G>C (p.Asp989His)
c.1924G>C (p.Asp642His)
17g.46031640C>TCA291125407KANSL1c.3154G>A (p.Asp1052Asn)
c.3151G>A (p.Asp1051Asn)
c.2962G>A (p.Asp988Asn)
c.3022G>A (p.Asp1008Asn)
n.7371G>A
n.927G>A
n.1126G>A
c.3052G>A (p.Asp1018Asn)
c.2965G>A (p.Asp989Asn)
c.1924G>A (p.Asp642Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46031641C>ACA399986056KANSL1c.3153G>T (p.Glu1051Asp)
c.3150G>T (p.Glu1050Asp)
c.2961G>T (p.Glu987Asp)
c.3021G>T (p.Glu1007Asp)
n.7370G>T
n.926G>T
n.1125G>T
c.3051G>T (p.Glu1017Asp)
c.2964G>T (p.Glu988Asp)
c.1923G>T (p.Glu641Asp)
17g.46031641C>GCA399986057KANSL1c.3153G>C (p.Glu1051Asp)
c.3150G>C (p.Glu1050Asp)
c.2961G>C (p.Glu987Asp)
c.3021G>C (p.Glu1007Asp)
n.7370G>C
n.926G>C
n.1125G>C
c.3051G>C (p.Glu1017Asp)
c.2964G>C (p.Glu988Asp)
c.1923G>C (p.Glu641Asp)
17g.46031641C>TCA500371703KANSL1c.3153G>A (p.Glu1051=)
c.3150G>A (p.Glu1050=)
c.2961G>A (p.Glu987=)
c.3021G>A (p.Glu1007=)
n.7370G>A
n.926G>A
n.1125G>A
c.3051G>A (p.Glu1017=)
c.2964G>A (p.Glu988=)
c.1923G>A (p.Glu641=)
17g.46031642T>ACA399986058KANSL1c.3152A>T (p.Glu1051Val)
c.3149A>T (p.Glu1050Val)
c.2960A>T (p.Glu987Val)
c.3020A>T (p.Glu1007Val)
n.7369A>T
n.925A>T
n.1124A>T
c.3050A>T (p.Glu1017Val)
c.2963A>T (p.Glu988Val)
c.1922A>T (p.Glu641Val)
17g.46031642T>CCA399986059KANSL1c.3152A>G (p.Glu1051Gly)
c.3149A>G (p.Glu1050Gly)
c.2960A>G (p.Glu987Gly)
c.3020A>G (p.Glu1007Gly)
n.7369A>G
n.925A>G
n.1124A>G
c.3050A>G (p.Glu1017Gly)
c.2963A>G (p.Glu988Gly)
c.1922A>G (p.Glu641Gly)
17g.46031642T>GCA399986060KANSL1c.3152A>C (p.Glu1051Ala)
c.3149A>C (p.Glu1050Ala)
c.2960A>C (p.Glu987Ala)
c.3020A>C (p.Glu1007Ala)
n.7369A>C
n.925A>C
n.1124A>C
c.3050A>C (p.Glu1017Ala)
c.2963A>C (p.Glu988Ala)
c.1922A>C (p.Glu641Ala)
17g.46031643C>ACA399986061KANSL1c.3151G>T (p.Glu1051Ter)
c.3148G>T (p.Glu1050Ter)
c.2959G>T (p.Glu987Ter)
c.3019G>T (p.Glu1007Ter)
n.7368G>T
n.924G>T
n.1123G>T
c.3049G>T (p.Glu1017Ter)
c.2962G>T (p.Glu988Ter)
c.1921G>T (p.Glu641Ter)
17g.46031643C>GCA399986062KANSL1c.3151G>C (p.Glu1051Gln)
c.3148G>C (p.Glu1050Gln)
c.2959G>C (p.Glu987Gln)
c.3019G>C (p.Glu1007Gln)
n.7368G>C
n.924G>C
n.1123G>C
c.3049G>C (p.Glu1017Gln)
c.2962G>C (p.Glu988Gln)
c.1921G>C (p.Glu641Gln)
gnomAD v4
17g.46031643C>TCA399986063KANSL1c.3151G>A (p.Glu1051Lys)
c.3148G>A (p.Glu1050Lys)
c.2959G>A (p.Glu987Lys)
c.3019G>A (p.Glu1007Lys)
n.7368G>A
n.924G>A
n.1123G>A
c.3049G>A (p.Glu1017Lys)
c.2962G>A (p.Glu988Lys)
c.1921G>A (p.Glu641Lys)
ClinVar
17g.46031644A>CCA399986064KANSL1c.3150T>G (p.Cys1050Trp)
c.3147T>G (p.Cys1049Trp)
c.2958T>G (p.Cys986Trp)
c.3018T>G (p.Cys1006Trp)
n.7367T>G
n.923T>G
n.1122T>G
c.3048T>G (p.Cys1016Trp)
c.2961T>G (p.Cys987Trp)
c.1920T>G (p.Cys640Trp)
17g.46031644A>GCA500371704KANSL1c.3150T>C (p.Cys1050=)
c.3147T>C (p.Cys1049=)
c.2958T>C (p.Cys986=)
c.3018T>C (p.Cys1006=)
n.7367T>C
n.923T>C
n.1122T>C
c.3048T>C (p.Cys1016=)
c.2961T>C (p.Cys987=)
c.1920T>C (p.Cys640=)
17g.46031644A>TCA399986065KANSL1c.3150T>A (p.Cys1050Ter)
c.3147T>A (p.Cys1049Ter)
c.2958T>A (p.Cys986Ter)
c.3018T>A (p.Cys1006Ter)
n.7367T>A
n.923T>A
n.1122T>A
c.3048T>A (p.Cys1016Ter)
c.2961T>A (p.Cys987Ter)
c.1920T>A (p.Cys640Ter)
17g.46031645C>ACA399986068KANSL1c.3149G>T (p.Cys1050Phe)
c.3146G>T (p.Cys1049Phe)
c.2957G>T (p.Cys986Phe)
c.3017G>T (p.Cys1006Phe)
n.7366G>T
n.922G>T
n.1121G>T
c.3047G>T (p.Cys1016Phe)
c.2960G>T (p.Cys987Phe)
c.1919G>T (p.Cys640Phe)
17g.46031645C>GCA399986066KANSL1c.3149G>C (p.Cys1050Ser)
c.3146G>C (p.Cys1049Ser)
c.2957G>C (p.Cys986Ser)
c.3017G>C (p.Cys1006Ser)
n.7366G>C
n.922G>C
n.1121G>C
c.3047G>C (p.Cys1016Ser)
c.2960G>C (p.Cys987Ser)
c.1919G>C (p.Cys640Ser)
17g.46031645C>TCA399986067KANSL1c.3149G>A (p.Cys1050Tyr)
c.3146G>A (p.Cys1049Tyr)
c.2957G>A (p.Cys986Tyr)
c.3017G>A (p.Cys1006Tyr)
n.7366G>A
n.922G>A
n.1121G>A
c.3047G>A (p.Cys1016Tyr)
c.2960G>A (p.Cys987Tyr)
c.1919G>A (p.Cys640Tyr)
17g.46031646A=CA2262110777KANSL1c.3148T= (p.Cys1050=)
c.3145T= (p.Cys1049=)
c.2956T= (p.Cys986=)
c.3016T= (p.Cys1006=)
n.7365T=
n.921T=
n.1120T=
c.3046T= (p.Cys1016=)
c.2959T= (p.Cys987=)
c.1918T= (p.Cys640=)
17g.46031646A>CCA399986069KANSL1c.3148T>G (p.Cys1050Gly)
c.3145T>G (p.Cys1049Gly)
c.2956T>G (p.Cys986Gly)
c.3016T>G (p.Cys1006Gly)
n.7365T>G
n.921T>G
n.1120T>G
c.3046T>G (p.Cys1016Gly)
c.2959T>G (p.Cys987Gly)
c.1918T>G (p.Cys640Gly)
gnomAD v4
17g.46031646A>GCA315138KANSL1c.3148T>C (p.Cys1050Arg)
c.3145T>C (p.Cys1049Arg)
c.2956T>C (p.Cys986Arg)
c.3016T>C (p.Cys1006Arg)
n.7365T>C
n.921T>C
n.1120T>C
c.3046T>C (p.Cys1016Arg)
c.2959T>C (p.Cys987Arg)
c.1918T>C (p.Cys640Arg)
ClinVar dbSNP
17g.46031646A>TCA399986070KANSL1c.3148T>A (p.Cys1050Ser)
c.3145T>A (p.Cys1049Ser)
c.2956T>A (p.Cys986Ser)
c.3016T>A (p.Cys1006Ser)
n.7365T>A
n.921T>A
n.1120T>A
c.3046T>A (p.Cys1016Ser)
c.2959T>A (p.Cys987Ser)
c.1918T>A (p.Cys640Ser)
17g.46031647C>ACA8618356KANSL1c.3147G>T (p.Glu1049Asp)
c.3144G>T (p.Glu1048Asp)
c.2955G>T (p.Glu985Asp)
c.3015G>T (p.Glu1005Asp)
n.7364G>T
n.920G>T
n.1119G>T
c.3045G>T (p.Glu1015Asp)
c.2958G>T (p.Glu986Asp)
c.1917G>T (p.Glu639Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031647C=CA2262110778KANSL1c.3147G= (p.Glu1049=)
c.3144G= (p.Glu1048=)
c.2955G= (p.Glu985=)
c.3015G= (p.Glu1005=)
n.7364G=
n.920G=
n.1119G=
c.3045G= (p.Glu1015=)
c.2958G= (p.Glu986=)
c.1917G= (p.Glu639=)
17g.46031647C>GCA399986071KANSL1c.3147G>C (p.Glu1049Asp)
c.3144G>C (p.Glu1048Asp)
c.2955G>C (p.Glu985Asp)
c.3015G>C (p.Glu1005Asp)
n.7364G>C
n.920G>C
n.1119G>C
c.3045G>C (p.Glu1015Asp)
c.2958G>C (p.Glu986Asp)
c.1917G>C (p.Glu639Asp)
17g.46031647C>TCA500371705KANSL1c.3147G>A (p.Glu1049=)
c.3144G>A (p.Glu1048=)
c.2955G>A (p.Glu985=)
c.3015G>A (p.Glu1005=)
n.7364G>A
n.920G>A
n.1119G>A
c.3045G>A (p.Glu1015=)
c.2958G>A (p.Glu986=)
c.1917G>A (p.Glu639=)
dbSNP
17g.46031648_46031650dupCA2576299128KANSL1c.3145_3147dup (p.Glu1049_Cys1050insGlu)
c.3142_3144dup (p.Glu1048_Cys1049insGlu)
c.2953_2955dup (p.Glu985_Cys986insGlu)
c.3013_3015dup (p.Glu1005_Cys1006insGlu)
n.7362_7364dup
n.918_920dup
n.1117_1119dup
c.3043_3045dup (p.Glu1015_Cys1016insGlu)
c.2956_2958dup (p.Glu986_Cys987insGlu)
c.1915_1917dup (p.Glu639_Cys640insGlu)
17g.46031648T>ACA399986072KANSL1c.3146A>T (p.Glu1049Val)
c.3143A>T (p.Glu1048Val)
c.2954A>T (p.Glu985Val)
c.3014A>T (p.Glu1005Val)
n.7363A>T
n.919A>T
n.1118A>T
c.3044A>T (p.Glu1015Val)
c.2957A>T (p.Glu986Val)
c.1916A>T (p.Glu639Val)
ClinVar dbSNP
17g.46031648T>CCA315136KANSL1c.3146A>G (p.Glu1049Gly)
c.3143A>G (p.Glu1048Gly)
c.2954A>G (p.Glu985Gly)
c.3014A>G (p.Glu1005Gly)
n.7363A>G
n.919A>G
n.1118A>G
c.3044A>G (p.Glu1015Gly)
c.2957A>G (p.Glu986Gly)
c.1916A>G (p.Glu639Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031648T>GCA399986073KANSL1c.3146A>C (p.Glu1049Ala)
c.3143A>C (p.Glu1048Ala)
c.2954A>C (p.Glu985Ala)
c.3014A>C (p.Glu1005Ala)
n.7363A>C
n.919A>C
n.1118A>C
c.3044A>C (p.Glu1015Ala)
c.2957A>C (p.Glu986Ala)
c.1916A>C (p.Glu639Ala)
17g.46031648T=CA2262110779KANSL1c.3146A= (p.Glu1049=)
c.3143A= (p.Glu1048=)
c.2954A= (p.Glu985=)
c.3014A= (p.Glu1005=)
n.7363A=
n.919A=
n.1118A=
c.3044A= (p.Glu1015=)
c.2957A= (p.Glu986=)
c.1916A= (p.Glu639=)
17g.46031649C>ACA399986074KANSL1c.3145G>T (p.Glu1049Ter)
c.3142G>T (p.Glu1048Ter)
c.2953G>T (p.Glu985Ter)
c.3013G>T (p.Glu1005Ter)
n.7362G>T
n.918G>T
n.1117G>T
c.3043G>T (p.Glu1015Ter)
c.2956G>T (p.Glu986Ter)
c.1915G>T (p.Glu639Ter)
17g.46031649C>GCA399986075KANSL1c.3145G>C (p.Glu1049Gln)
c.3142G>C (p.Glu1048Gln)
c.2953G>C (p.Glu985Gln)
c.3013G>C (p.Glu1005Gln)
n.7362G>C
n.918G>C
n.1117G>C
c.3043G>C (p.Glu1015Gln)
c.2956G>C (p.Glu986Gln)
c.1915G>C (p.Glu639Gln)
17g.46031649C>TCA399986076KANSL1c.3145G>A (p.Glu1049Lys)
c.3142G>A (p.Glu1048Lys)
c.2953G>A (p.Glu985Lys)
c.3013G>A (p.Glu1005Lys)
n.7362G>A
n.918G>A
n.1117G>A
c.3043G>A (p.Glu1015Lys)
c.2956G>A (p.Glu986Lys)
c.1915G>A (p.Glu639Lys)
17g.46031650C>ACA500371707KANSL1c.3144G>T (p.Ala1048=)
c.3141G>T (p.Ala1047=)
c.2952G>T (p.Ala984=)
c.3012G>T (p.Ala1004=)
n.7361G>T
n.917G>T
n.1116G>T
c.3042G>T (p.Ala1014=)
c.2955G>T (p.Ala985=)
c.1914G>T (p.Ala638=)
17g.46031650C=CA2262110780KANSL1c.3144G= (p.Ala1048=)
c.3141G= (p.Ala1047=)
c.2952G= (p.Ala984=)
c.3012G= (p.Ala1004=)
n.7361G=
n.917G=
n.1116G=
c.3042G= (p.Ala1014=)
c.2955G= (p.Ala985=)
c.1914G= (p.Ala638=)
17g.46031650C>GCA500371706KANSL1c.3144G>C (p.Ala1048=)
c.3141G>C (p.Ala1047=)
c.2952G>C (p.Ala984=)
c.3012G>C (p.Ala1004=)
n.7361G>C
n.917G>C
n.1116G>C
c.3042G>C (p.Ala1014=)
c.2955G>C (p.Ala985=)
c.1914G>C (p.Ala638=)
ClinVar dbSNP
17g.46031650C>TCA291125416KANSL1c.3144G>A (p.Ala1048=)
c.3141G>A (p.Ala1047=)
c.2952G>A (p.Ala984=)
c.3012G>A (p.Ala1004=)
n.7361G>A
n.917G>A
n.1116G>A
c.3042G>A (p.Ala1014=)
c.2955G>A (p.Ala985=)
c.1914G>A (p.Ala638=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46031651G>ACA8618358KANSL1c.3143C>T (p.Ala1048Val)
c.3140C>T (p.Ala1047Val)
c.2951C>T (p.Ala984Val)
c.3011C>T (p.Ala1004Val)
n.7360C>T
n.916C>T
n.1115C>T
c.3041C>T (p.Ala1014Val)
c.2954C>T (p.Ala985Val)
c.1913C>T (p.Ala638Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031651G>CCA399986077KANSL1c.3143C>G (p.Ala1048Gly)
c.3140C>G (p.Ala1047Gly)
c.2951C>G (p.Ala984Gly)
c.3011C>G (p.Ala1004Gly)
n.7360C>G
n.916C>G
n.1115C>G
c.3041C>G (p.Ala1014Gly)
c.2954C>G (p.Ala985Gly)
c.1913C>G (p.Ala638Gly)
17g.46031651G=CA2262110781KANSL1c.3143C= (p.Ala1048=)
c.3140C= (p.Ala1047=)
c.2951C= (p.Ala984=)
c.3011C= (p.Ala1004=)
n.7360C=
n.916C=
n.1115C=
c.3041C= (p.Ala1014=)
c.2954C= (p.Ala985=)
c.1913C= (p.Ala638=)
17g.46031651G>TCA399986078KANSL1c.3143C>A (p.Ala1048Glu)
c.3140C>A (p.Ala1047Glu)
c.2951C>A (p.Ala984Glu)
c.3011C>A (p.Ala1004Glu)
n.7360C>A
n.916C>A
n.1115C>A
c.3041C>A (p.Ala1014Glu)
c.2954C>A (p.Ala985Glu)
c.1913C>A (p.Ala638Glu)
17g.46031651_46031652insGTGCA8618357KANSL1c.3143_3144insACC (p.Ala1048_Glu1049insPro)
c.3140_3141insACC (p.Ala1047_Glu1048insPro)
c.2951_2952insACC (p.Ala984_Glu985insPro)
c.3011_3012insACC (p.Ala1004_Glu1005insPro)
n.7360_7361insACC
n.916_917insACC
n.1115_1116insACC
c.3041_3042insACC (p.Ala1014_Glu1015insPro)
c.2954_2955insACC (p.Ala985_Glu986insPro)
c.1913_1914insACC (p.Ala638_Glu639insPro)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031652C>ACA399986081KANSL1c.3142G>T (p.Ala1048Ser)
c.3139G>T (p.Ala1047Ser)
c.2950G>T (p.Ala984Ser)
c.3010G>T (p.Ala1004Ser)
n.7359G>T
n.915G>T
n.1114G>T
c.3040G>T (p.Ala1014Ser)
c.2953G>T (p.Ala985Ser)
c.1912G>T (p.Ala638Ser)
17g.46031652C>GCA399986079KANSL1c.3142G>C (p.Ala1048Pro)
c.3139G>C (p.Ala1047Pro)
c.2950G>C (p.Ala984Pro)
c.3010G>C (p.Ala1004Pro)
n.7359G>C
n.915G>C
n.1114G>C
c.3040G>C (p.Ala1014Pro)
c.2953G>C (p.Ala985Pro)
c.1912G>C (p.Ala638Pro)
17g.46031652C>TCA399986080KANSL1c.3142G>A (p.Ala1048Thr)
c.3139G>A (p.Ala1047Thr)
c.2950G>A (p.Ala984Thr)
c.3010G>A (p.Ala1004Thr)
n.7359G>A
n.915G>A
n.1114G>A
c.3040G>A (p.Ala1014Thr)
c.2953G>A (p.Ala985Thr)
c.1912G>A (p.Ala638Thr)
gnomAD v4
17g.46031653C>ACA399986082KANSL1c.3141G>T (p.Gln1047His)
c.3138G>T (p.Gln1046His)
c.2949G>T (p.Gln983His)
c.3009G>T (p.Gln1003His)
n.7358G>T
n.914G>T
n.1113G>T
c.3039G>T (p.Gln1013His)
c.2952G>T (p.Gln984His)
c.1911G>T (p.Gln637His)
ClinVar
17g.46031653C=CA2262110782KANSL1c.3141G= (p.Gln1047=)
c.3138G= (p.Gln1046=)
c.2949G= (p.Gln983=)
c.3009G= (p.Gln1003=)
n.7358G=
n.914G=
n.1113G=
c.3039G= (p.Gln1013=)
c.2952G= (p.Gln984=)
c.1911G= (p.Gln637=)
17g.46031653C>GCA315134KANSL1c.3141G>C (p.Gln1047His)
c.3138G>C (p.Gln1046His)
c.2949G>C (p.Gln983His)
c.3009G>C (p.Gln1003His)
n.7358G>C
n.914G>C
n.1113G>C
c.3039G>C (p.Gln1013His)
c.2952G>C (p.Gln984His)
c.1911G>C (p.Gln637His)
ClinVar dbSNP
17g.46031653C>TCA500371708KANSL1c.3141G>A (p.Gln1047=)
c.3138G>A (p.Gln1046=)
c.2949G>A (p.Gln983=)
c.3009G>A (p.Gln1003=)
n.7358G>A
n.914G>A
n.1113G>A
c.3039G>A (p.Gln1013=)
c.2952G>A (p.Gln984=)
c.1911G>A (p.Gln637=)
17g.46031654T>ACA399986083KANSL1c.3140A>T (p.Gln1047Leu)
c.3137A>T (p.Gln1046Leu)
c.2948A>T (p.Gln983Leu)
n.557A>T
c.3008A>T (p.Gln1003Leu)
n.7357A>T
n.913A>T
n.1112A>T
c.3038A>T (p.Gln1013Leu)
c.2951A>T (p.Gln984Leu)
c.1910A>T (p.Gln637Leu)
17g.46031654T>CCA8618359KANSL1c.3140A>G (p.Gln1047Arg)
c.3137A>G (p.Gln1046Arg)
c.2948A>G (p.Gln983Arg)
n.557A>G
c.3008A>G (p.Gln1003Arg)
n.7357A>G
n.913A>G
n.1112A>G
c.3038A>G (p.Gln1013Arg)
c.2951A>G (p.Gln984Arg)
c.1910A>G (p.Gln637Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031654T>GCA399986084KANSL1c.3140A>C (p.Gln1047Pro)
c.3137A>C (p.Gln1046Pro)
c.2948A>C (p.Gln983Pro)
n.557A>C
c.3008A>C (p.Gln1003Pro)
n.7357A>C
n.913A>C
n.1112A>C
c.3038A>C (p.Gln1013Pro)
c.2951A>C (p.Gln984Pro)
c.1910A>C (p.Gln637Pro)
17g.46031654T=CA2262110783KANSL1c.3140A= (p.Gln1047=)
c.3137A= (p.Gln1046=)
c.2948A= (p.Gln983=)
n.557A=
c.3008A= (p.Gln1003=)
n.7357A=
n.913A=
n.1112A=
c.3038A= (p.Gln1013=)
c.2951A= (p.Gln984=)
c.1910A= (p.Gln637=)
17g.46031655G>ACA399986085KANSL1c.3139C>T (p.Gln1047Ter)
c.3136C>T (p.Gln1046Ter)
c.2947C>T (p.Gln983Ter)
n.556C>T
c.3007C>T (p.Gln1003Ter)
n.7356C>T
n.912C>T
n.1111C>T
c.3037C>T (p.Gln1013Ter)
c.2950C>T (p.Gln984Ter)
c.1909C>T (p.Gln637Ter)
17g.46031655G>CCA8618360KANSL1c.3139C>G (p.Gln1047Glu)
c.3136C>G (p.Gln1046Glu)
c.2947C>G (p.Gln983Glu)
n.556C>G
c.3007C>G (p.Gln1003Glu)
n.7356C>G
n.912C>G
n.1111C>G
c.3037C>G (p.Gln1013Glu)
c.2950C>G (p.Gln984Glu)
c.1909C>G (p.Gln637Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031655G=CA2262110784KANSL1c.3139C= (p.Gln1047=)
c.3136C= (p.Gln1046=)
c.2947C= (p.Gln983=)
n.556C=
c.3007C= (p.Gln1003=)
n.7356C=
n.912C=
n.1111C=
c.3037C= (p.Gln1013=)
c.2950C= (p.Gln984=)
c.1909C= (p.Gln637=)
17g.46031655G>TCA399986086KANSL1c.3139C>A (p.Gln1047Lys)
c.3136C>A (p.Gln1046Lys)
c.2947C>A (p.Gln983Lys)
n.556C>A
c.3007C>A (p.Gln1003Lys)
n.7356C>A
n.912C>A
n.1111C>A
c.3037C>A (p.Gln1013Lys)
c.2950C>A (p.Gln984Lys)
c.1909C>A (p.Gln637Lys)
gnomAD v4
17g.46031656G>ACA500371710KANSL1c.3138C>T (p.Pro1046=)
c.3135C>T (p.Pro1045=)
c.2946C>T (p.Pro982=)
n.555C>T
c.3006C>T (p.Pro1002=)
n.7355C>T
n.911C>T
n.1110C>T
c.3036C>T (p.Pro1012=)
c.2949C>T (p.Pro983=)
c.1908C>T (p.Pro636=)
COSMIC
17g.46031656G>CCA8618361KANSL1c.3138C>G (p.Pro1046=)
c.3135C>G (p.Pro1045=)
c.2946C>G (p.Pro982=)
n.555C>G
c.3006C>G (p.Pro1002=)
n.7355C>G
n.911C>G
n.1110C>G
c.3036C>G (p.Pro1012=)
c.2949C>G (p.Pro983=)
c.1908C>G (p.Pro636=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031656G=CA2262110785KANSL1c.3138C= (p.Pro1046=)
c.3135C= (p.Pro1045=)
c.2946C= (p.Pro982=)
n.555C=
c.3006C= (p.Pro1002=)
n.7355C=
n.911C=
n.1110C=
c.3036C= (p.Pro1012=)
c.2949C= (p.Pro983=)
c.1908C= (p.Pro636=)
17g.46031656G>TCA500371709KANSL1c.3138C>A (p.Pro1046=)
c.3135C>A (p.Pro1045=)
c.2946C>A (p.Pro982=)
n.555C>A
c.3006C>A (p.Pro1002=)
n.7355C>A
n.911C>A
n.1110C>A
c.3036C>A (p.Pro1012=)
c.2949C>A (p.Pro983=)
c.1908C>A (p.Pro636=)
17g.46031657G>ACA399986089KANSL1c.3137C>T (p.Pro1046Leu)
c.3134C>T (p.Pro1045Leu)
c.2945C>T (p.Pro982Leu)
n.554C>T
c.3005C>T (p.Pro1002Leu)
n.7354C>T
n.910C>T
n.1109C>T
c.3035C>T (p.Pro1012Leu)
c.2948C>T (p.Pro983Leu)
c.1907C>T (p.Pro636Leu)
17g.46031657G>CCA399986088KANSL1c.3137C>G (p.Pro1046Arg)
c.3134C>G (p.Pro1045Arg)
c.2945C>G (p.Pro982Arg)
n.554C>G
c.3005C>G (p.Pro1002Arg)
n.7354C>G
n.910C>G
n.1109C>G
c.3035C>G (p.Pro1012Arg)
c.2948C>G (p.Pro983Arg)
c.1907C>G (p.Pro636Arg)
17g.46031657G>TCA399986087KANSL1c.3137C>A (p.Pro1046His)
c.3134C>A (p.Pro1045His)
c.2945C>A (p.Pro982His)
n.554C>A
c.3005C>A (p.Pro1002His)
n.7354C>A
n.910C>A
n.1109C>A
c.3035C>A (p.Pro1012His)
c.2948C>A (p.Pro983His)
c.1907C>A (p.Pro636His)
17g.46031658G>ACA399986090KANSL1c.3136C>T (p.Pro1046Ser)
c.3133C>T (p.Pro1045Ser)
c.2944C>T (p.Pro982Ser)
n.553C>T
c.3004C>T (p.Pro1002Ser)
n.7353C>T
n.909C>T
n.1108C>T
c.3034C>T (p.Pro1012Ser)
c.2947C>T (p.Pro983Ser)
c.1906C>T (p.Pro636Ser)
17g.46031658G>CCA399986091KANSL1c.3136C>G (p.Pro1046Ala)
c.3133C>G (p.Pro1045Ala)
c.2944C>G (p.Pro982Ala)
n.553C>G
c.3004C>G (p.Pro1002Ala)
n.7353C>G
n.909C>G
n.1108C>G
c.3034C>G (p.Pro1012Ala)
c.2947C>G (p.Pro983Ala)
c.1906C>G (p.Pro636Ala)
17g.46031658G=CA2262110786KANSL1c.3136C= (p.Pro1046=)
c.3133C= (p.Pro1045=)
c.2944C= (p.Pro982=)
n.553C=
c.3004C= (p.Pro1002=)
n.7353C=
n.909C=
n.1108C=
c.3034C= (p.Pro1012=)
c.2947C= (p.Pro983=)
c.1906C= (p.Pro636=)
17g.46031658G>TCA399986092KANSL1c.3136C>A (p.Pro1046Thr)
c.3133C>A (p.Pro1045Thr)
c.2944C>A (p.Pro982Thr)
n.553C>A
c.3004C>A (p.Pro1002Thr)
n.7353C>A
n.909C>A
n.1108C>A
c.3034C>A (p.Pro1012Thr)
c.2947C>A (p.Pro983Thr)
c.1906C>A (p.Pro636Thr)
dbSNP gnomAD v2 gnomAD v4
17g.46031659A=CA2262110787KANSL1c.3135T= (p.Ser1045=)
c.3132T= (p.Ser1044=)
c.2943T= (p.Ser981=)
n.552T=
c.3003T= (p.Ser1001=)
n.7352T=
n.908T=
n.1107T=
c.3033T= (p.Ser1011=)
c.2946T= (p.Ser982=)
c.1905T= (p.Ser635=)
17g.46031659A>CCA399986093KANSL1c.3135T>G (p.Ser1045Arg)
c.3132T>G (p.Ser1044Arg)
c.2943T>G (p.Ser981Arg)
n.552T>G
c.3003T>G (p.Ser1001Arg)
n.7352T>G
n.908T>G
n.1107T>G
c.3033T>G (p.Ser1011Arg)
c.2946T>G (p.Ser982Arg)
c.1905T>G (p.Ser635Arg)
17g.46031659A>GCA500371711KANSL1c.3135T>C (p.Ser1045=)
c.3132T>C (p.Ser1044=)
c.2943T>C (p.Ser981=)
n.552T>C
c.3003T>C (p.Ser1001=)
n.7352T>C
n.908T>C
n.1107T>C
c.3033T>C (p.Ser1011=)
c.2946T>C (p.Ser982=)
c.1905T>C (p.Ser635=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46031659A>TCA399986094KANSL1c.3135T>A (p.Ser1045Arg)
c.3132T>A (p.Ser1044Arg)
c.2943T>A (p.Ser981Arg)
n.552T>A
c.3003T>A (p.Ser1001Arg)
n.7352T>A
n.908T>A
n.1107T>A
c.3033T>A (p.Ser1011Arg)
c.2946T>A (p.Ser982Arg)
c.1905T>A (p.Ser635Arg)
17g.46031660C>ACA399986095KANSL1c.3134G>T (p.Ser1045Ile)
c.3131G>T (p.Ser1044Ile)
c.2942G>T (p.Ser981Ile)
n.551G>T
c.3002G>T (p.Ser1001Ile)
n.7351G>T
n.907G>T
n.1106G>T
c.3032G>T (p.Ser1011Ile)
c.2945G>T (p.Ser982Ile)
c.1904G>T (p.Ser635Ile)
17g.46031660C>GCA399986096KANSL1c.3134G>C (p.Ser1045Thr)
c.3131G>C (p.Ser1044Thr)
c.2942G>C (p.Ser981Thr)
n.551G>C
c.3002G>C (p.Ser1001Thr)
n.7351G>C
n.907G>C
n.1106G>C
c.3032G>C (p.Ser1011Thr)
c.2945G>C (p.Ser982Thr)
c.1904G>C (p.Ser635Thr)
17g.46031660C>TCA399986097KANSL1c.3134G>A (p.Ser1045Asn)
c.3131G>A (p.Ser1044Asn)
c.2942G>A (p.Ser981Asn)
n.551G>A
c.3002G>A (p.Ser1001Asn)
n.7351G>A
n.907G>A
n.1106G>A
c.3032G>A (p.Ser1011Asn)
c.2945G>A (p.Ser982Asn)
c.1904G>A (p.Ser635Asn)
17g.46031661T>ACA399986098KANSL1c.3133A>T (p.Ser1045Cys)
c.3130A>T (p.Ser1044Cys)
c.2941A>T (p.Ser981Cys)
n.550A>T
c.3001A>T (p.Ser1001Cys)
n.7350A>T
n.906A>T
n.1105A>T
c.3031A>T (p.Ser1011Cys)
c.2944A>T (p.Ser982Cys)
c.1903A>T (p.Ser635Cys)
17g.46031661T>CCA399986099KANSL1c.3133A>G (p.Ser1045Gly)
c.3130A>G (p.Ser1044Gly)
c.2941A>G (p.Ser981Gly)
n.550A>G
c.3001A>G (p.Ser1001Gly)
n.7350A>G
n.906A>G
n.1105A>G
c.3031A>G (p.Ser1011Gly)
c.2944A>G (p.Ser982Gly)
c.1903A>G (p.Ser635Gly)
17g.46031661T>GCA399986100KANSL1c.3133A>C (p.Ser1045Arg)
c.3130A>C (p.Ser1044Arg)
c.2941A>C (p.Ser981Arg)
n.550A>C
c.3001A>C (p.Ser1001Arg)
n.7350A>C
n.906A>C
n.1105A>C
c.3031A>C (p.Ser1011Arg)
c.2944A>C (p.Ser982Arg)
c.1903A>C (p.Ser635Arg)
dbSNP gnomAD v2 gnomAD v4
17g.46031661T=CA2262110788KANSL1c.3133A= (p.Ser1045=)
c.3130A= (p.Ser1044=)
c.2941A= (p.Ser981=)
n.550A=
c.3001A= (p.Ser1001=)
n.7350A=
n.906A=
n.1105A=
c.3031A= (p.Ser1011=)
c.2944A= (p.Ser982=)
c.1903A= (p.Ser635=)
17g.46031662G>ACA500371713KANSL1c.3132C>T (p.His1044=)
c.3129C>T (p.His1043=)
c.2940C>T (p.His980=)
n.549C>T
c.3000C>T (p.His1000=)
n.7349C>T
n.905C>T
n.1104C>T
c.3030C>T (p.His1010=)
c.2943C>T (p.His981=)
c.1902C>T (p.His634=)
17g.46031662G>CCA399986101KANSL1c.3132C>G (p.His1044Gln)
c.3129C>G (p.His1043Gln)
c.2940C>G (p.His980Gln)
n.549C>G
c.3000C>G (p.His1000Gln)
n.7349C>G
n.905C>G
n.1104C>G
c.3030C>G (p.His1010Gln)
c.2943C>G (p.His981Gln)
c.1902C>G (p.His634Gln)
gnomAD v4
17g.46031662G>TCA399986102KANSL1c.3132C>A (p.His1044Gln)
c.3129C>A (p.His1043Gln)
c.2940C>A (p.His980Gln)
n.549C>A
c.3000C>A (p.His1000Gln)
n.7349C>A
n.905C>A
n.1104C>A
c.3030C>A (p.His1010Gln)
c.2943C>A (p.His981Gln)
c.1902C>A (p.His634Gln)
17g.46031663T>ACA399986104KANSL1c.3131A>T (p.His1044Leu)
c.3128A>T (p.His1043Leu)
c.2939A>T (p.His980Leu)
n.548A>T
c.2999A>T (p.His1000Leu)
n.7348A>T
n.904A>T
n.1103A>T
c.3029A>T (p.His1010Leu)
c.2942A>T (p.His981Leu)
c.1901A>T (p.His634Leu)
17g.46031663T>CCA399986105KANSL1c.3131A>G (p.His1044Arg)
c.3128A>G (p.His1043Arg)
c.2939A>G (p.His980Arg)
n.548A>G
c.2999A>G (p.His1000Arg)
n.7348A>G
n.904A>G
n.1103A>G
c.3029A>G (p.His1010Arg)
c.2942A>G (p.His981Arg)
c.1901A>G (p.His634Arg)
dbSNP
17g.46031663T>GCA399986103KANSL1c.3131A>C (p.His1044Pro)
c.3128A>C (p.His1043Pro)
c.2939A>C (p.His980Pro)
n.548A>C
c.2999A>C (p.His1000Pro)
n.7348A>C
n.904A>C
n.1103A>C
c.3029A>C (p.His1010Pro)
c.2942A>C (p.His981Pro)
c.1901A>C (p.His634Pro)
17g.46031663T=CA2262110789KANSL1c.3131A= (p.His1044=)
c.3128A= (p.His1043=)
c.2939A= (p.His980=)
n.548A=
c.2999A= (p.His1000=)
n.7348A=
n.904A=
n.1103A=
c.3029A= (p.His1010=)
c.2942A= (p.His981=)
c.1901A= (p.His634=)
17g.46031664G>ACA399986106KANSL1c.3130C>T (p.His1044Tyr)
c.3127C>T (p.His1043Tyr)
c.2938C>T (p.His980Tyr)
n.547C>T
c.2998C>T (p.His1000Tyr)
n.7347C>T
n.903C>T
n.1102C>T
c.3028C>T (p.His1010Tyr)
c.2941C>T (p.His981Tyr)
c.1900C>T (p.His634Tyr)
dbSNP gnomAD v2 gnomAD v4
17g.46031664G>CCA399986107KANSL1c.3130C>G (p.His1044Asp)
c.3127C>G (p.His1043Asp)
c.2938C>G (p.His980Asp)
n.547C>G
c.2998C>G (p.His1000Asp)
n.7347C>G
n.903C>G
n.1102C>G
c.3028C>G (p.His1010Asp)
c.2941C>G (p.His981Asp)
c.1900C>G (p.His634Asp)
17g.46031664G=CA2262110790KANSL1c.3130C= (p.His1044=)
c.3127C= (p.His1043=)
c.2938C= (p.His980=)
n.547C=
c.2998C= (p.His1000=)
n.7347C=
n.903C=
n.1102C=
c.3028C= (p.His1010=)
c.2941C= (p.His981=)
c.1900C= (p.His634=)
17g.46031664G>TCA399986108KANSL1c.3130C>A (p.His1044Asn)
c.3127C>A (p.His1043Asn)
c.2938C>A (p.His980Asn)
n.547C>A
c.2998C>A (p.His1000Asn)
n.7347C>A
n.903C>A
n.1102C>A
c.3028C>A (p.His1010Asn)
c.2941C>A (p.His981Asn)
c.1900C>A (p.His634Asn)
17g.46031665C>ACA500371716KANSL1c.3129G>T (p.Ala1043=)
c.3126G>T (p.Ala1042=)
c.2937G>T (p.Ala979=)
n.546G>T
c.2997G>T (p.Ala999=)
n.7346G>T
n.902G>T
n.1101G>T
c.3027G>T (p.Ala1009=)
c.2940G>T (p.Ala980=)
c.1899G>T (p.Ala633=)
gnomAD v4
17g.46031665C=CA2262110791KANSL1c.3129G= (p.Ala1043=)
c.3126G= (p.Ala1042=)
c.2937G= (p.Ala979=)
n.546G=
c.2997G= (p.Ala999=)
n.7346G=
n.902G=
n.1101G=
c.3027G= (p.Ala1009=)
c.2940G= (p.Ala980=)
c.1899G= (p.Ala633=)
17g.46031665C>GCA500371715KANSL1c.3129G>C (p.Ala1043=)
c.3126G>C (p.Ala1042=)
c.2937G>C (p.Ala979=)
n.546G>C
c.2997G>C (p.Ala999=)
n.7346G>C
n.902G>C
n.1101G>C
c.3027G>C (p.Ala1009=)
c.2940G>C (p.Ala980=)
c.1899G>C (p.Ala633=)
gnomAD v4
17g.46031665C>TCA8618362KANSL1c.3129G>A (p.Ala1043=)
c.3126G>A (p.Ala1042=)
c.2937G>A (p.Ala979=)
n.546G>A
c.2997G>A (p.Ala999=)
n.7346G>A
n.902G>A
n.1101G>A
c.3027G>A (p.Ala1009=)
c.2940G>A (p.Ala980=)
c.1899G>A (p.Ala633=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.46031666G>ACA399986109KANSL1c.3128C>T (p.Ala1043Val)
c.3125C>T (p.Ala1042Val)
c.2936C>T (p.Ala979Val)
n.545C>T
c.2996C>T (p.Ala999Val)
n.7345C>T
n.901C>T
n.1100C>T
c.3026C>T (p.Ala1009Val)
c.2939C>T (p.Ala980Val)
c.1898C>T (p.Ala633Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46031666G>CCA399986110KANSL1c.3128C>G (p.Ala1043Gly)
c.3125C>G (p.Ala1042Gly)
c.2936C>G (p.Ala979Gly)
n.545C>G
c.2996C>G (p.Ala999Gly)
n.7345C>G
n.901C>G
n.1100C>G
c.3026C>G (p.Ala1009Gly)
c.2939C>G (p.Ala980Gly)
c.1898C>G (p.Ala633Gly)
dbSNP
17g.46031666G=CA2262110792KANSL1c.3128C= (p.Ala1043=)
c.3125C= (p.Ala1042=)
c.2936C= (p.Ala979=)
n.545C=
c.2996C= (p.Ala999=)
n.7345C=
n.901C=
n.1100C=
c.3026C= (p.Ala1009=)
c.2939C= (p.Ala980=)
c.1898C= (p.Ala633=)
17g.46031666G>TCA399986111KANSL1c.3128C>A (p.Ala1043Glu)
c.3125C>A (p.Ala1042Glu)
c.2936C>A (p.Ala979Glu)
n.545C>A
c.2996C>A (p.Ala999Glu)
n.7345C>A
n.901C>A
n.1100C>A
c.3026C>A (p.Ala1009Glu)
c.2939C>A (p.Ala980Glu)
c.1898C>A (p.Ala633Glu)
17g.46031667C>ACA399986112KANSL1c.3127G>T (p.Ala1043Ser)
c.3124G>T (p.Ala1042Ser)
c.2935G>T (p.Ala979Ser)
n.544G>T
c.2995G>T (p.Ala999Ser)
n.7344G>T
n.900G>T
n.1099G>T
c.3025G>T (p.Ala1009Ser)
c.2938G>T (p.Ala980Ser)
c.1897G>T (p.Ala633Ser)
gnomAD v4
17g.46031667C=CA2262110793KANSL1c.3127G= (p.Ala1043=)
c.3124G= (p.Ala1042=)
c.2935G= (p.Ala979=)
n.544G=
c.2995G= (p.Ala999=)
n.7344G=
n.900G=
n.1099G=
c.3025G= (p.Ala1009=)
c.2938G= (p.Ala980=)
c.1897G= (p.Ala633=)
17g.46031667C>GCA8618363KANSL1c.3127G>C (p.Ala1043Pro)
c.3124G>C (p.Ala1042Pro)
c.2935G>C (p.Ala979Pro)
n.544G>C
c.2995G>C (p.Ala999Pro)
n.7344G>C
n.900G>C
n.1099G>C
c.3025G>C (p.Ala1009Pro)
c.2938G>C (p.Ala980Pro)
c.1897G>C (p.Ala633Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031667C>TCA399986113KANSL1c.3127G>A (p.Ala1043Thr)
c.3124G>A (p.Ala1042Thr)
c.2935G>A (p.Ala979Thr)
n.544G>A
c.2995G>A (p.Ala999Thr)
n.7344G>A
n.900G>A
n.1099G>A
c.3025G>A (p.Ala1009Thr)
c.2938G>A (p.Ala980Thr)
c.1897G>A (p.Ala633Thr)
17g.46031668C>ACA500371719KANSL1c.3126G>T (p.Leu1042=)
c.3123G>T (p.Leu1041=)
c.2934G>T (p.Leu978=)
n.543G>T
c.2994G>T (p.Leu998=)
n.7343G>T
n.899G>T
n.1098G>T
c.3024G>T (p.Leu1008=)
c.2937G>T (p.Leu979=)
c.1896G>T (p.Leu632=)
17g.46031668C>GCA500371717KANSL1c.3126G>C (p.Leu1042=)
c.3123G>C (p.Leu1041=)
c.2934G>C (p.Leu978=)
n.543G>C
c.2994G>C (p.Leu998=)
n.7343G>C
n.899G>C
n.1098G>C
c.3024G>C (p.Leu1008=)
c.2937G>C (p.Leu979=)
c.1896G>C (p.Leu632=)
17g.46031668C>TCA500371718KANSL1c.3126G>A (p.Leu1042=)
c.3123G>A (p.Leu1041=)
c.2934G>A (p.Leu978=)
n.543G>A
c.2994G>A (p.Leu998=)
n.7343G>A
n.899G>A
n.1098G>A
c.3024G>A (p.Leu1008=)
c.2937G>A (p.Leu979=)
c.1896G>A (p.Leu632=)
17g.46031668_46031669delinsCACA2262110794KANSL1c.3125_3126delinsTG (p.Leu1042=)
c.3122_3123delinsTG (p.Leu1041=)
c.2933_2934delinsTG (p.Leu978=)
n.542_543delinsTG
c.2993_2994delinsTG (p.Leu998=)
n.7342_7343delinsTG
n.898_899delinsTG
n.1097_1098delinsTG
c.3023_3024delinsTG (p.Leu1008=)
c.2936_2937delinsTG (p.Leu979=)
c.1895_1896delinsTG (p.Leu632=)
17g.46031669delCA276146KANSL1c.3125del (p.Leu1042ArgfsTer?)
c.3122del (p.Leu1041ArgfsTer?)
c.2933del (p.Leu978ArgfsTer?)
n.542del
c.2993del (p.Leu998ArgfsTer?)
n.7342del
n.898del
n.1097del
c.3023del (p.Leu1008ArgfsTer?)
c.2936del (p.Leu979ArgfsTer?)
c.1895del (p.Leu632ArgfsTer?)
ClinVar dbSNP
17g.46031669A>CCA399986114KANSL1c.3125T>G (p.Leu1042Arg)
c.3122T>G (p.Leu1041Arg)
c.2933T>G (p.Leu978Arg)
n.542T>G
c.2993T>G (p.Leu998Arg)
n.7342T>G
n.898T>G
n.1097T>G
c.3023T>G (p.Leu1008Arg)
c.2936T>G (p.Leu979Arg)
c.1895T>G (p.Leu632Arg)
17g.46031669A>GCA399986115KANSL1c.3125T>C (p.Leu1042Pro)
c.3122T>C (p.Leu1041Pro)
c.2933T>C (p.Leu978Pro)
n.542T>C
c.2993T>C (p.Leu998Pro)
n.7342T>C
n.898T>C
n.1097T>C
c.3023T>C (p.Leu1008Pro)
c.2936T>C (p.Leu979Pro)
c.1895T>C (p.Leu632Pro)
17g.46031669A>TCA399986116KANSL1c.3125T>A (p.Leu1042Gln)
c.3122T>A (p.Leu1041Gln)
c.2933T>A (p.Leu978Gln)
n.542T>A
c.2993T>A (p.Leu998Gln)
n.7342T>A
n.898T>A
n.1097T>A
c.3023T>A (p.Leu1008Gln)
c.2936T>A (p.Leu979Gln)
c.1895T>A (p.Leu632Gln)
17g.46031669_46031670delinsAGCA2262110795KANSL1c.3124_3125delinsCT (p.Leu1042=)
c.3121_3122delinsCT (p.Leu1041=)
c.2932_2933delinsCT (p.Leu978=)
n.541_542delinsCT
c.2992_2993delinsCT (p.Leu998=)
n.7341_7342delinsCT
n.897_898delinsCT
n.1096_1097delinsCT
c.3022_3023delinsCT (p.Leu1008=)
c.2935_2936delinsCT (p.Leu979=)
c.1894_1895delinsCT (p.Leu632=)
17g.46031670G>ACA500371720KANSL1c.3124C>T (p.Leu1042=)
c.3121C>T (p.Leu1041=)
c.2932C>T (p.Leu978=)
n.541C>T
c.2992C>T (p.Leu998=)
n.7341C>T
n.897C>T
n.1096C>T
c.3022C>T (p.Leu1008=)
c.2935C>T (p.Leu979=)
c.1894C>T (p.Leu632=)
dbSNP
17g.46031670G>CCA399986117KANSL1c.3124C>G (p.Leu1042Val)
c.3121C>G (p.Leu1041Val)
c.2932C>G (p.Leu978Val)
n.541C>G
c.2992C>G (p.Leu998Val)
n.7341C>G
n.897C>G
n.1096C>G
c.3022C>G (p.Leu1008Val)
c.2935C>G (p.Leu979Val)
c.1894C>G (p.Leu632Val)
17g.46031670G=CA2262110796KANSL1c.3124C= (p.Leu1042=)
c.3121C= (p.Leu1041=)
c.2932C= (p.Leu978=)
n.541C=
c.2992C= (p.Leu998=)
n.7341C=
n.897C=
n.1096C=
c.3022C= (p.Leu1008=)
c.2935C= (p.Leu979=)
c.1894C= (p.Leu632=)
17g.46031670G>TCA399986118KANSL1c.3124C>A (p.Leu1042Met)
c.3121C>A (p.Leu1041Met)
c.2932C>A (p.Leu978Met)
n.541C>A
c.2992C>A (p.Leu998Met)
n.7341C>A
n.897C>A
n.1096C>A
c.3022C>A (p.Leu1008Met)
c.2935C>A (p.Leu979Met)
c.1894C>A (p.Leu632Met)
17g.46031674dupCA2809640636KANSL1c.3124dup (p.Leu1042ProfsTer10)
c.3121dup (p.Leu1041ProfsTer10)
c.2932dup (p.Leu978ProfsTer10)
n.541dup
c.2992dup (p.Leu998ProfsTer10)
n.7341dup
n.897dup
n.1096dup
c.3022dup (p.Leu1008ProfsTer10)
c.2935dup (p.Leu979ProfsTer10)
c.1894dup (p.Leu632ProfsTer10)
17g.46031674delCA626683809KANSL1c.3124del (p.Leu1042TrpfsTer?)
c.3121del (p.Leu1041TrpfsTer?)
c.2932del (p.Leu978TrpfsTer?)
n.541del
c.2992del (p.Leu998TrpfsTer?)
n.7341del
n.897del
n.1096del
c.3022del (p.Leu1008TrpfsTer?)
c.2935del (p.Leu979TrpfsTer?)
c.1894del (p.Leu632TrpfsTer?)
dbSNP gnomAD v2 gnomAD v4
17g.46031671G>ACA500371722KANSL1c.3123C>T (p.Pro1041=)
c.3120C>T (p.Pro1040=)
c.2931C>T (p.Pro977=)
n.540C>T
c.2991C>T (p.Pro997=)
n.7340C>T
n.896C>T
n.1095C>T
c.3021C>T (p.Pro1007=)
c.2934C>T (p.Pro978=)
c.1893C>T (p.Pro631=)
ClinVar gnomAD v4
17g.46031671G>CCA291125443KANSL1c.3123C>G (p.Pro1041=)
c.3120C>G (p.Pro1040=)
c.2931C>G (p.Pro977=)
n.540C>G
c.2991C>G (p.Pro997=)
n.7340C>G
n.896C>G
n.1095C>G
c.3021C>G (p.Pro1007=)
c.2934C>G (p.Pro978=)
c.1893C>G (p.Pro631=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46031671G=CA2262110797KANSL1c.3123C= (p.Pro1041=)
c.3120C= (p.Pro1040=)
c.2931C= (p.Pro977=)
n.540C=
c.2991C= (p.Pro997=)
n.7340C=
n.896C=
n.1095C=
c.3021C= (p.Pro1007=)
c.2934C= (p.Pro978=)
c.1893C= (p.Pro631=)
17g.46031671G>TCA500371721KANSL1c.3123C>A (p.Pro1041=)
c.3120C>A (p.Pro1040=)
c.2931C>A (p.Pro977=)
n.540C>A
c.2991C>A (p.Pro997=)
n.7340C>A
n.896C>A
n.1095C>A
c.3021C>A (p.Pro1007=)
c.2934C>A (p.Pro978=)
c.1893C>A (p.Pro631=)
dbSNP gnomAD v2 gnomAD v4
17g.46031672G>ACA399986119KANSL1c.3122C>T (p.Pro1041Leu)
c.3119C>T (p.Pro1040Leu)
c.2930C>T (p.Pro977Leu)
n.539C>T
c.2990C>T (p.Pro997Leu)
n.7339C>T
n.895C>T
n.1094C>T
c.3020C>T (p.Pro1007Leu)
c.2933C>T (p.Pro978Leu)
c.1892C>T (p.Pro631Leu)
17g.46031672G>CCA399986120KANSL1c.3122C>G (p.Pro1041Arg)
c.3119C>G (p.Pro1040Arg)
c.2930C>G (p.Pro977Arg)
n.539C>G
c.2990C>G (p.Pro997Arg)
n.7339C>G
n.895C>G
n.1094C>G
c.3020C>G (p.Pro1007Arg)
c.2933C>G (p.Pro978Arg)
c.1892C>G (p.Pro631Arg)
17g.46031672G>TCA399986121KANSL1c.3122C>A (p.Pro1041His)
c.3119C>A (p.Pro1040His)
c.2930C>A (p.Pro977His)
n.539C>A
c.2990C>A (p.Pro997His)
n.7339C>A
n.895C>A
n.1094C>A
c.3020C>A (p.Pro1007His)
c.2933C>A (p.Pro978His)
c.1892C>A (p.Pro631His)
17g.46031673G>ACA399986122KANSL1c.3121C>T (p.Pro1041Ser)
c.3118C>T (p.Pro1040Ser)
c.2929C>T (p.Pro977Ser)
n.538C>T
c.2989C>T (p.Pro997Ser)
n.7338C>T
n.894C>T
n.1093C>T
c.3019C>T (p.Pro1007Ser)
c.2932C>T (p.Pro978Ser)
c.1891C>T (p.Pro631Ser)
17g.46031673G>CCA399986123KANSL1c.3121C>G (p.Pro1041Ala)
c.3118C>G (p.Pro1040Ala)
c.2929C>G (p.Pro977Ala)
n.538C>G
c.2989C>G (p.Pro997Ala)
n.7338C>G
n.894C>G
n.1093C>G
c.3019C>G (p.Pro1007Ala)
c.2932C>G (p.Pro978Ala)
c.1891C>G (p.Pro631Ala)
17g.46031673G>TCA399986124KANSL1c.3121C>A (p.Pro1041Thr)
c.3118C>A (p.Pro1040Thr)
c.2929C>A (p.Pro977Thr)
n.538C>A
c.2989C>A (p.Pro997Thr)
n.7338C>A
n.894C>A
n.1093C>A
c.3019C>A (p.Pro1007Thr)
c.2932C>A (p.Pro978Thr)
c.1891C>A (p.Pro631Thr)
17g.46031674G>ACA500371723KANSL1c.3120C>T (p.Phe1040=)
c.3117C>T (p.Phe1039=)
c.2928C>T (p.Phe976=)
n.537C>T
c.2988C>T (p.Phe996=)
n.7337C>T
n.893C>T
n.1092C>T
c.3018C>T (p.Phe1006=)
c.2931C>T (p.Phe977=)
c.1890C>T (p.Phe630=)
gnomAD v4
17g.46031674G>CCA399986125KANSL1c.3120C>G (p.Phe1040Leu)
c.3117C>G (p.Phe1039Leu)
c.2928C>G (p.Phe976Leu)
n.537C>G
c.2988C>G (p.Phe996Leu)
n.7337C>G
n.893C>G
n.1092C>G
c.3018C>G (p.Phe1006Leu)
c.2931C>G (p.Phe977Leu)
c.1890C>G (p.Phe630Leu)
17g.46031674G>TCA399986126KANSL1c.3120C>A (p.Phe1040Leu)
c.3117C>A (p.Phe1039Leu)
c.2928C>A (p.Phe976Leu)
n.537C>A
c.2988C>A (p.Phe996Leu)
n.7337C>A
n.893C>A
n.1092C>A
c.3018C>A (p.Phe1006Leu)
c.2931C>A (p.Phe977Leu)
c.1890C>A (p.Phe630Leu)
17g.46031675A>CCA399986127KANSL1c.3119T>G (p.Phe1040Cys)
c.3116T>G (p.Phe1039Cys)
c.2927T>G (p.Phe976Cys)
n.536T>G
c.2987T>G (p.Phe996Cys)
n.7336T>G
n.892T>G
n.1091T>G
c.3017T>G (p.Phe1006Cys)
c.2930T>G (p.Phe977Cys)
c.1889T>G (p.Phe630Cys)
17g.46031675A>GCA399986128KANSL1c.3119T>C (p.Phe1040Ser)
c.3116T>C (p.Phe1039Ser)
c.2927T>C (p.Phe976Ser)
n.536T>C
c.2987T>C (p.Phe996Ser)
n.7336T>C
n.892T>C
n.1091T>C
c.3017T>C (p.Phe1006Ser)
c.2930T>C (p.Phe977Ser)
c.1889T>C (p.Phe630Ser)
gnomAD v4
17g.46031675A>TCA399986129KANSL1c.3119T>A (p.Phe1040Tyr)
c.3116T>A (p.Phe1039Tyr)
c.2927T>A (p.Phe976Tyr)
n.536T>A
c.2987T>A (p.Phe996Tyr)
n.7336T>A
n.892T>A
n.1091T>A
c.3017T>A (p.Phe1006Tyr)
c.2930T>A (p.Phe977Tyr)
c.1889T>A (p.Phe630Tyr)
17g.46031676A>CCA399986130KANSL1c.3118T>G (p.Phe1040Val)
c.3115T>G (p.Phe1039Val)
c.2926T>G (p.Phe976Val)
n.535T>G
c.2986T>G (p.Phe996Val)
n.7335T>G
n.891T>G
n.1090T>G
c.3016T>G (p.Phe1006Val)
c.2929T>G (p.Phe977Val)
c.1888T>G (p.Phe630Val)
17g.46031676A>GCA399986131KANSL1c.3118T>C (p.Phe1040Leu)
c.3115T>C (p.Phe1039Leu)
c.2926T>C (p.Phe976Leu)
n.535T>C
c.2986T>C (p.Phe996Leu)
n.7335T>C
n.891T>C
n.1090T>C
c.3016T>C (p.Phe1006Leu)
c.2929T>C (p.Phe977Leu)
c.1888T>C (p.Phe630Leu)
gnomAD v4
17g.46031676A>TCA399986132KANSL1c.3118T>A (p.Phe1040Ile)
c.3115T>A (p.Phe1039Ile)
c.2926T>A (p.Phe976Ile)
n.535T>A
c.2986T>A (p.Phe996Ile)
n.7335T>A
n.891T>A
n.1090T>A
c.3016T>A (p.Phe1006Ile)
c.2929T>A (p.Phe977Ile)
c.1888T>A (p.Phe630Ile)
17g.46031677G>ACA8618364KANSL1c.3117C>T (p.Thr1039=)
c.3114C>T (p.Thr1038=)
c.2925C>T (p.Thr975=)
n.534C>T
c.2985C>T (p.Thr995=)
n.7334C>T
n.890C>T
n.1089C>T
c.3015C>T (p.Thr1005=)
c.2928C>T (p.Thr976=)
c.1887C>T (p.Thr629=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031677G>CCA500371725KANSL1c.3117C>G (p.Thr1039=)
c.3114C>G (p.Thr1038=)
c.2925C>G (p.Thr975=)
n.534C>G
c.2985C>G (p.Thr995=)
n.7334C>G
n.890C>G
n.1089C>G
c.3015C>G (p.Thr1005=)
c.2928C>G (p.Thr976=)
c.1887C>G (p.Thr629=)
dbSNP gnomAD v3 gnomAD v4
17g.46031677G=CA2262110798KANSL1c.3117C= (p.Thr1039=)
c.3114C= (p.Thr1038=)
c.2925C= (p.Thr975=)
n.534C=
c.2985C= (p.Thr995=)
n.7334C=
n.890C=
n.1089C=
c.3015C= (p.Thr1005=)
c.2928C= (p.Thr976=)
c.1887C= (p.Thr629=)
17g.46031677G>TCA500371724KANSL1c.3117C>A (p.Thr1039=)
c.3114C>A (p.Thr1038=)
c.2925C>A (p.Thr975=)
n.534C>A
c.2985C>A (p.Thr995=)
n.7334C>A
n.890C>A
n.1089C>A
c.3015C>A (p.Thr1005=)
c.2928C>A (p.Thr976=)
c.1887C>A (p.Thr629=)
17g.46031678G>ACA399986134KANSL1c.3116C>T (p.Thr1039Ile)
c.3113C>T (p.Thr1038Ile)
c.2924C>T (p.Thr975Ile)
n.533C>T
c.2984C>T (p.Thr995Ile)
n.7333C>T
n.889C>T
n.1088C>T
c.3014C>T (p.Thr1005Ile)
c.2927C>T (p.Thr976Ile)
c.1886C>T (p.Thr629Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46031678G>CCA399986133KANSL1c.3116C>G (p.Thr1039Ser)
c.3113C>G (p.Thr1038Ser)
c.2924C>G (p.Thr975Ser)
n.533C>G
c.2984C>G (p.Thr995Ser)
n.7333C>G
n.889C>G
n.1088C>G
c.3014C>G (p.Thr1005Ser)
c.2927C>G (p.Thr976Ser)
c.1886C>G (p.Thr629Ser)
17g.46031678G=CA2262110799KANSL1c.3116C= (p.Thr1039=)
c.3113C= (p.Thr1038=)
c.2924C= (p.Thr975=)
n.533C=
c.2984C= (p.Thr995=)
n.7333C=
n.889C=
n.1088C=
c.3014C= (p.Thr1005=)
c.2927C= (p.Thr976=)
c.1886C= (p.Thr629=)
17g.46031678G>TCA399986135KANSL1c.3116C>A (p.Thr1039Asn)
c.3113C>A (p.Thr1038Asn)
c.2924C>A (p.Thr975Asn)
n.533C>A
c.2984C>A (p.Thr995Asn)
n.7333C>A
n.889C>A
n.1088C>A
c.3014C>A (p.Thr1005Asn)
c.2927C>A (p.Thr976Asn)
c.1886C>A (p.Thr629Asn)
gnomAD v4
17g.46031679T>ACA399986136KANSL1c.3115A>T (p.Thr1039Ser)
c.3112A>T (p.Thr1038Ser)
c.2923A>T (p.Thr975Ser)
n.532A>T
c.2983A>T (p.Thr995Ser)
n.7332A>T
n.888A>T
n.1087A>T
c.3013A>T (p.Thr1005Ser)
c.2926A>T (p.Thr976Ser)
c.1885A>T (p.Thr629Ser)
17g.46031679T>CCA399986137KANSL1c.3115A>G (p.Thr1039Ala)
c.3112A>G (p.Thr1038Ala)
c.2923A>G (p.Thr975Ala)
n.532A>G
c.2983A>G (p.Thr995Ala)
n.7332A>G
n.888A>G
n.1087A>G
c.3013A>G (p.Thr1005Ala)
c.2926A>G (p.Thr976Ala)
c.1885A>G (p.Thr629Ala)
dbSNP gnomAD v4
17g.46031679T>GCA399986138KANSL1c.3115A>C (p.Thr1039Pro)
c.3112A>C (p.Thr1038Pro)
c.2923A>C (p.Thr975Pro)
n.532A>C
c.2983A>C (p.Thr995Pro)
n.7332A>C
n.888A>C
n.1087A>C
c.3013A>C (p.Thr1005Pro)
c.2926A>C (p.Thr976Pro)
c.1885A>C (p.Thr629Pro)
17g.46031679T=CA2262110800KANSL1c.3115A= (p.Thr1039=)
c.3112A= (p.Thr1038=)
c.2923A= (p.Thr975=)
n.532A=
c.2983A= (p.Thr995=)
n.7332A=
n.888A=
n.1087A=
c.3013A= (p.Thr1005=)
c.2926A= (p.Thr976=)
c.1885A= (p.Thr629=)
17g.46031680C>ACA500371728KANSL1c.3114G>T (p.Arg1038=)
c.3111G>T (p.Arg1037=)
c.2922G>T (p.Arg974=)
n.531G>T
c.2982G>T (p.Arg994=)
n.7331G>T
n.887G>T
n.1086G>T
c.3012G>T (p.Arg1004=)
c.2925G>T (p.Arg975=)
c.1884G>T (p.Arg628=)
17g.46031680C=CA2262110801KANSL1c.3114G= (p.Arg1038=)
c.3111G= (p.Arg1037=)
c.2922G= (p.Arg974=)
n.531G=
c.2982G= (p.Arg994=)
n.7331G=
n.887G=
n.1086G=
c.3012G= (p.Arg1004=)
c.2925G= (p.Arg975=)
c.1884G= (p.Arg628=)
17g.46031680C>GCA500371726KANSL1c.3114G>C (p.Arg1038=)
c.3111G>C (p.Arg1037=)
c.2922G>C (p.Arg974=)
n.531G>C
c.2982G>C (p.Arg994=)
n.7331G>C
n.887G>C
n.1086G>C
c.3012G>C (p.Arg1004=)
c.2925G>C (p.Arg975=)
c.1884G>C (p.Arg628=)
dbSNP gnomAD v4
17g.46031680C>TCA500371727KANSL1c.3114G>A (p.Arg1038=)
c.3111G>A (p.Arg1037=)
c.2922G>A (p.Arg974=)
n.531G>A
c.2982G>A (p.Arg994=)
n.7331G>A
n.887G>A
n.1086G>A
c.3012G>A (p.Arg1004=)
c.2925G>A (p.Arg975=)
c.1884G>A (p.Arg628=)
17g.46031681C>ACA399986139KANSL1c.3113G>T (p.Arg1038Leu)
c.3110G>T (p.Arg1037Leu)
c.2921G>T (p.Arg974Leu)
n.530G>T
c.2981G>T (p.Arg994Leu)
n.7330G>T
n.886G>T
n.1085G>T
c.3011G>T (p.Arg1004Leu)
c.2924G>T (p.Arg975Leu)
c.1883G>T (p.Arg628Leu)
17g.46031681C>GCA399986140KANSL1c.3113G>C (p.Arg1038Pro)
c.3110G>C (p.Arg1037Pro)
c.2921G>C (p.Arg974Pro)
n.530G>C
c.2981G>C (p.Arg994Pro)
n.7330G>C
n.886G>C
n.1085G>C
c.3011G>C (p.Arg1004Pro)
c.2924G>C (p.Arg975Pro)
c.1883G>C (p.Arg628Pro)
17g.46031681C>TCA399986141KANSL1c.3113G>A (p.Arg1038Gln)
c.3110G>A (p.Arg1037Gln)
c.2921G>A (p.Arg974Gln)
n.530G>A
c.2981G>A (p.Arg994Gln)
n.7330G>A
n.886G>A
n.1085G>A
c.3011G>A (p.Arg1004Gln)
c.2924G>A (p.Arg975Gln)
c.1883G>A (p.Arg628Gln)
gnomAD v4 COSMIC
17g.46031682G>ACA399986142KANSL1c.3112C>T (p.Arg1038Trp)
c.3109C>T (p.Arg1037Trp)
c.2920C>T (p.Arg974Trp)
n.529C>T
c.2980C>T (p.Arg994Trp)
n.7329C>T
n.885C>T
n.1084C>T
c.3010C>T (p.Arg1004Trp)
c.2923C>T (p.Arg975Trp)
c.1882C>T (p.Arg628Trp)
17g.46031682G>CCA399986143KANSL1c.3112C>G (p.Arg1038Gly)
c.3109C>G (p.Arg1037Gly)
c.2920C>G (p.Arg974Gly)
n.529C>G
c.2980C>G (p.Arg994Gly)
n.7329C>G
n.885C>G
n.1084C>G
c.3010C>G (p.Arg1004Gly)
c.2923C>G (p.Arg975Gly)
c.1882C>G (p.Arg628Gly)
17g.46031682G>TCA500371729KANSL1c.3112C>A (p.Arg1038=)
c.3109C>A (p.Arg1037=)
c.2920C>A (p.Arg974=)
n.529C>A
c.2980C>A (p.Arg994=)
n.7329C>A
n.885C>A
n.1084C>A
c.3010C>A (p.Arg1004=)
c.2923C>A (p.Arg975=)
c.1882C>A (p.Arg628=)
17g.46031683C>ACA500371732KANSL1c.3111G>T (p.Arg1037=)
c.3108G>T (p.Arg1036=)
c.2919G>T (p.Arg973=)
n.528G>T
c.2979G>T (p.Arg993=)
n.7328G>T
n.884G>T
n.1083G>T
c.3009G>T (p.Arg1003=)
c.2922G>T (p.Arg974=)
c.1881G>T (p.Arg627=)
17g.46031683C>GCA500371730KANSL1c.3111G>C (p.Arg1037=)
c.3108G>C (p.Arg1036=)
c.2919G>C (p.Arg973=)
n.528G>C
c.2979G>C (p.Arg993=)
n.7328G>C
n.884G>C
n.1083G>C
c.3009G>C (p.Arg1003=)
c.2922G>C (p.Arg974=)
c.1881G>C (p.Arg627=)
17g.46031683C>TCA500371731KANSL1c.3111G>A (p.Arg1037=)
c.3108G>A (p.Arg1036=)
c.2919G>A (p.Arg973=)
n.528G>A
c.2979G>A (p.Arg993=)
n.7328G>A
n.884G>A
n.1083G>A
c.3009G>A (p.Arg1003=)
c.2922G>A (p.Arg974=)
c.1881G>A (p.Arg627=)
17g.46031684C>ACA399986144KANSL1c.3110G>T (p.Arg1037Leu)
c.3107G>T (p.Arg1036Leu)
c.2918G>T (p.Arg973Leu)
n.527G>T
c.2978G>T (p.Arg993Leu)
n.7327G>T
n.883G>T
n.1082G>T
c.3008G>T (p.Arg1003Leu)
c.2921G>T (p.Arg974Leu)
c.1880G>T (p.Arg627Leu)
gnomAD v4
17g.46031684C=CA2262110802KANSL1c.3110G= (p.Arg1037=)
c.3107G= (p.Arg1036=)
c.2918G= (p.Arg973=)
n.527G=
c.2978G= (p.Arg993=)
n.7327G=
n.883G=
n.1082G=
c.3008G= (p.Arg1003=)
c.2921G= (p.Arg974=)
c.1880G= (p.Arg627=)
17g.46031684C>GCA399986145KANSL1c.3110G>C (p.Arg1037Pro)
c.3107G>C (p.Arg1036Pro)
c.2918G>C (p.Arg973Pro)
n.527G>C
c.2978G>C (p.Arg993Pro)
n.7327G>C
n.883G>C
n.1082G>C
c.3008G>C (p.Arg1003Pro)
c.2921G>C (p.Arg974Pro)
c.1880G>C (p.Arg627Pro)
17g.46031684C>TCA8618365KANSL1c.3110G>A (p.Arg1037Gln)
c.3107G>A (p.Arg1036Gln)
c.2918G>A (p.Arg973Gln)
n.527G>A
c.2978G>A (p.Arg993Gln)
n.7327G>A
n.883G>A
n.1082G>A
c.3008G>A (p.Arg1003Gln)
c.2921G>A (p.Arg974Gln)
c.1880G>A (p.Arg627Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031685G>ACA399986146KANSL1c.3109C>T (p.Arg1037Trp)
c.3106C>T (p.Arg1036Trp)
c.2917C>T (p.Arg973Trp)
n.526C>T
c.2977C>T (p.Arg993Trp)
n.7326C>T
n.882C>T
n.1081C>T
c.3007C>T (p.Arg1003Trp)
c.2920C>T (p.Arg974Trp)
c.1879C>T (p.Arg627Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46031685G>CCA399986147KANSL1c.3109C>G (p.Arg1037Gly)
c.3106C>G (p.Arg1036Gly)
c.2917C>G (p.Arg973Gly)
n.526C>G
c.2977C>G (p.Arg993Gly)
n.7326C>G
n.882C>G
n.1081C>G
c.3007C>G (p.Arg1003Gly)
c.2920C>G (p.Arg974Gly)
c.1879C>G (p.Arg627Gly)
17g.46031685G=CA2262110803KANSL1c.3109C= (p.Arg1037=)
c.3106C= (p.Arg1036=)
c.2917C= (p.Arg973=)
n.526C=
c.2977C= (p.Arg993=)
n.7326C=
n.882C=
n.1081C=
c.3007C= (p.Arg1003=)
c.2920C= (p.Arg974=)
c.1879C= (p.Arg627=)
17g.46031685G>TCA500371733KANSL1c.3109C>A (p.Arg1037=)
c.3106C>A (p.Arg1036=)
c.2917C>A (p.Arg973=)
n.526C>A
c.2977C>A (p.Arg993=)
n.7326C>A
n.882C>A
n.1081C>A
c.3007C>A (p.Arg1003=)
c.2920C>A (p.Arg974=)
c.1879C>A (p.Arg627=)
17g.46031686C>ACA399986148KANSL1c.3108G>T (p.Glu1036Asp)
c.3105G>T (p.Glu1035Asp)
c.2916G>T (p.Glu972Asp)
n.525G>T
c.2976G>T (p.Glu992Asp)
n.7325G>T
n.881G>T
n.1080G>T
c.3006G>T (p.Glu1002Asp)
c.2919G>T (p.Glu973Asp)
c.1878G>T (p.Glu626Asp)
17g.46031686C>GCA399986149KANSL1c.3108G>C (p.Glu1036Asp)
c.3105G>C (p.Glu1035Asp)
c.2916G>C (p.Glu972Asp)
n.525G>C
c.2976G>C (p.Glu992Asp)
n.7325G>C
n.881G>C
n.1080G>C
c.3006G>C (p.Glu1002Asp)
c.2919G>C (p.Glu973Asp)
c.1878G>C (p.Glu626Asp)
17g.46031686C>TCA500371734KANSL1c.3108G>A (p.Glu1036=)
c.3105G>A (p.Glu1035=)
c.2916G>A (p.Glu972=)
n.525G>A
c.2976G>A (p.Glu992=)
n.7325G>A
n.881G>A
n.1080G>A
c.3006G>A (p.Glu1002=)
c.2919G>A (p.Glu973=)
c.1878G>A (p.Glu626=)
gnomAD v4
17g.46031687T>ACA399986150KANSL1c.3107A>T (p.Glu1036Val)
c.3104A>T (p.Glu1035Val)
c.2915A>T (p.Glu972Val)
n.524A>T
c.2975A>T (p.Glu992Val)
n.7324A>T
n.880A>T
n.1079A>T
c.3005A>T (p.Glu1002Val)
c.2918A>T (p.Glu973Val)
c.1877A>T (p.Glu626Val)
17g.46031687T>CCA399986152KANSL1c.3107A>G (p.Glu1036Gly)
c.3104A>G (p.Glu1035Gly)
c.2915A>G (p.Glu972Gly)
n.524A>G
c.2975A>G (p.Glu992Gly)
n.7324A>G
n.880A>G
n.1079A>G
c.3005A>G (p.Glu1002Gly)
c.2918A>G (p.Glu973Gly)
c.1877A>G (p.Glu626Gly)
dbSNP gnomAD v3 gnomAD v4
17g.46031687T>GCA399986151KANSL1c.3107A>C (p.Glu1036Ala)
c.3104A>C (p.Glu1035Ala)
c.2915A>C (p.Glu972Ala)
n.524A>C
c.2975A>C (p.Glu992Ala)
n.7324A>C
n.880A>C
n.1079A>C
c.3005A>C (p.Glu1002Ala)
c.2918A>C (p.Glu973Ala)
c.1877A>C (p.Glu626Ala)
dbSNP gnomAD v4
17g.46031687T=CA2262110804KANSL1c.3107A= (p.Glu1036=)
c.3104A= (p.Glu1035=)
c.2915A= (p.Glu972=)
n.524A=
c.2975A= (p.Glu992=)
n.7324A=
n.880A=
n.1079A=
c.3005A= (p.Glu1002=)
c.2918A= (p.Glu973=)
c.1877A= (p.Glu626=)
17g.46031688C>ACA399986153KANSL1c.3106G>T (p.Glu1036Ter)
c.3103G>T (p.Glu1035Ter)
c.2914G>T (p.Glu972Ter)
n.523G>T
c.2974G>T (p.Glu992Ter)
n.7323G>T
n.879G>T
n.1078G>T
c.3004G>T (p.Glu1002Ter)
c.2917G>T (p.Glu973Ter)
c.1876G>T (p.Glu626Ter)
17g.46031688C>GCA399986154KANSL1c.3106G>C (p.Glu1036Gln)
c.3103G>C (p.Glu1035Gln)
c.2914G>C (p.Glu972Gln)
n.523G>C
c.2974G>C (p.Glu992Gln)
n.7323G>C
n.879G>C
n.1078G>C
c.3004G>C (p.Glu1002Gln)
c.2917G>C (p.Glu973Gln)
c.1876G>C (p.Glu626Gln)
17g.46031688C>TCA399986155KANSL1c.3106G>A (p.Glu1036Lys)
c.3103G>A (p.Glu1035Lys)
c.2914G>A (p.Glu972Lys)
n.523G>A
c.2974G>A (p.Glu992Lys)
n.7323G>A
n.879G>A
n.1078G>A
c.3004G>A (p.Glu1002Lys)
c.2917G>A (p.Glu973Lys)
c.1876G>A (p.Glu626Lys)
17g.46031689C>ACA399986156KANSL1c.3105G>T (p.Trp1035Cys)
c.3102G>T (p.Trp1034Cys)
c.2913G>T (p.Trp971Cys)
n.522G>T
c.2973G>T (p.Trp991Cys)
n.7322G>T
n.878G>T
n.1077G>T
c.3003G>T (p.Trp1001Cys)
c.2916G>T (p.Trp972Cys)
c.1875G>T (p.Trp625Cys)
17g.46031689C>GCA399986157KANSL1c.3105G>C (p.Trp1035Cys)
c.3102G>C (p.Trp1034Cys)
c.2913G>C (p.Trp971Cys)
n.522G>C
c.2973G>C (p.Trp991Cys)
n.7322G>C
n.878G>C
n.1077G>C
c.3003G>C (p.Trp1001Cys)
c.2916G>C (p.Trp972Cys)
c.1875G>C (p.Trp625Cys)
ClinVar dbSNP
17g.46031689C>TCA399986158KANSL1c.3105G>A (p.Trp1035Ter)
c.3102G>A (p.Trp1034Ter)
c.2913G>A (p.Trp971Ter)
n.522G>A
c.2973G>A (p.Trp991Ter)
n.7322G>A
n.878G>A
n.1077G>A
c.3003G>A (p.Trp1001Ter)
c.2916G>A (p.Trp972Ter)
c.1875G>A (p.Trp625Ter)
17g.46031690C>ACA399986159KANSL1c.3104G>T (p.Trp1035Leu)
c.3101G>T (p.Trp1034Leu)
c.2912G>T (p.Trp971Leu)
n.521G>T
c.2972G>T (p.Trp991Leu)
n.7321G>T
n.877G>T
n.1076G>T
c.3002G>T (p.Trp1001Leu)
c.2915G>T (p.Trp972Leu)
c.1874G>T (p.Trp625Leu)
17g.46031690C>GCA399986160KANSL1c.3104G>C (p.Trp1035Ser)
c.3101G>C (p.Trp1034Ser)
c.2912G>C (p.Trp971Ser)
n.521G>C
c.2972G>C (p.Trp991Ser)
n.7321G>C
n.877G>C
n.1076G>C
c.3002G>C (p.Trp1001Ser)
c.2915G>C (p.Trp972Ser)
c.1874G>C (p.Trp625Ser)
17g.46031690C>TCA399986161KANSL1c.3104G>A (p.Trp1035Ter)
c.3101G>A (p.Trp1034Ter)
c.2912G>A (p.Trp971Ter)
n.521G>A
c.2972G>A (p.Trp991Ter)
n.7321G>A
n.877G>A
n.1076G>A
c.3002G>A (p.Trp1001Ter)
c.2915G>A (p.Trp972Ter)
c.1874G>A (p.Trp625Ter)
17g.46031691A>CCA399986162KANSL1c.3103T>G (p.Trp1035Gly)
c.3100T>G (p.Trp1034Gly)
c.2911T>G (p.Trp971Gly)
n.520T>G
c.2971T>G (p.Trp991Gly)
n.7320T>G
n.876T>G
n.1075T>G
c.3001T>G (p.Trp1001Gly)
c.2914T>G (p.Trp972Gly)
c.1873T>G (p.Trp625Gly)
17g.46031691A>GCA399986163KANSL1c.3103T>C (p.Trp1035Arg)
c.3100T>C (p.Trp1034Arg)
c.2911T>C (p.Trp971Arg)
n.520T>C
c.2971T>C (p.Trp991Arg)
n.7320T>C
n.876T>C
n.1075T>C
c.3001T>C (p.Trp1001Arg)
c.2914T>C (p.Trp972Arg)
c.1873T>C (p.Trp625Arg)
17g.46031691A>TCA399986164KANSL1c.3103T>A (p.Trp1035Arg)
c.3100T>A (p.Trp1034Arg)
c.2911T>A (p.Trp971Arg)
n.520T>A
c.2971T>A (p.Trp991Arg)
n.7320T>A
n.876T>A
n.1075T>A
c.3001T>A (p.Trp1001Arg)
c.2914T>A (p.Trp972Arg)
c.1873T>A (p.Trp625Arg)
17g.46031692G>ACA500371752KANSL1c.3102C>T (p.Pro1034=)
c.3099C>T (p.Pro1033=)
c.2910C>T (p.Pro970=)
n.519C>T
c.2970C>T (p.Pro990=)
n.7319C>T
n.875C>T
n.1074C>T
c.3000C>T (p.Pro1000=)
c.2913C>T (p.Pro971=)
c.1872C>T (p.Pro624=)
17g.46031692G>CCA500371749KANSL1c.3102C>G (p.Pro1034=)
c.3099C>G (p.Pro1033=)
c.2910C>G (p.Pro970=)
n.519C>G
c.2970C>G (p.Pro990=)
n.7319C>G
n.875C>G
n.1074C>G
c.3000C>G (p.Pro1000=)
c.2913C>G (p.Pro971=)
c.1872C>G (p.Pro624=)
17g.46031692G>TCA500371751KANSL1c.3102C>A (p.Pro1034=)
c.3099C>A (p.Pro1033=)
c.2910C>A (p.Pro970=)
n.519C>A
c.2970C>A (p.Pro990=)
n.7319C>A
n.875C>A
n.1074C>A
c.3000C>A (p.Pro1000=)
c.2913C>A (p.Pro971=)
c.1872C>A (p.Pro624=)
17g.46031693G>ACA399986165KANSL1c.3101C>T (p.Pro1034Leu)
c.3098C>T (p.Pro1033Leu)
c.2909C>T (p.Pro970Leu)
n.518C>T
c.2969C>T (p.Pro990Leu)
n.7318C>T
n.874C>T
n.1073C>T
c.2999C>T (p.Pro1000Leu)
c.2912C>T (p.Pro971Leu)
c.1871C>T (p.Pro624Leu)
17g.46031693G>CCA399986167KANSL1c.3101C>G (p.Pro1034Arg)
c.3098C>G (p.Pro1033Arg)
c.2909C>G (p.Pro970Arg)
n.518C>G
c.2969C>G (p.Pro990Arg)
n.7318C>G
n.874C>G
n.1073C>G
c.2999C>G (p.Pro1000Arg)
c.2912C>G (p.Pro971Arg)
c.1871C>G (p.Pro624Arg)
17g.46031693G>TCA399986166KANSL1c.3101C>A (p.Pro1034His)
c.3098C>A (p.Pro1033His)
c.2909C>A (p.Pro970His)
n.518C>A
c.2969C>A (p.Pro990His)
n.7318C>A
n.874C>A
n.1073C>A
c.2999C>A (p.Pro1000His)
c.2912C>A (p.Pro971His)
c.1871C>A (p.Pro624His)
gnomAD v4
17g.46031694G>ACA399986168KANSL1c.3100C>T (p.Pro1034Ser)
c.3097C>T (p.Pro1033Ser)
c.2908C>T (p.Pro970Ser)
n.517C>T
c.2968C>T (p.Pro990Ser)
n.7317C>T
n.873C>T
n.1072C>T
c.2998C>T (p.Pro1000Ser)
c.2911C>T (p.Pro971Ser)
c.1870C>T (p.Pro624Ser)
gnomAD v4 COSMIC
17g.46031694G>CCA399986169KANSL1c.3100C>G (p.Pro1034Ala)
c.3097C>G (p.Pro1033Ala)
c.2908C>G (p.Pro970Ala)
n.517C>G
c.2968C>G (p.Pro990Ala)
n.7317C>G
n.873C>G
n.1072C>G
c.2998C>G (p.Pro1000Ala)
c.2911C>G (p.Pro971Ala)
c.1870C>G (p.Pro624Ala)
17g.46031694G>TCA399986170KANSL1c.3100C>A (p.Pro1034Thr)
c.3097C>A (p.Pro1033Thr)
c.2908C>A (p.Pro970Thr)
n.517C>A
c.2968C>A (p.Pro990Thr)
n.7317C>A
n.873C>A
n.1072C>A
c.2998C>A (p.Pro1000Thr)
c.2911C>A (p.Pro971Thr)
c.1870C>A (p.Pro624Thr)
17g.46031695C>ACA399986171KANSL1c.3099G>T (p.Gln1033His)
c.3096G>T (p.Gln1032His)
c.2907G>T (p.Gln969His)
n.516G>T
c.2967G>T (p.Gln989His)
n.7316G>T
n.872G>T
n.1071G>T
c.2997G>T (p.Gln999His)
c.2910G>T (p.Gln970His)
c.1869G>T (p.Gln623His)
17g.46031695C>GCA399986172KANSL1c.3099G>C (p.Gln1033His)
c.3096G>C (p.Gln1032His)
c.2907G>C (p.Gln969His)
n.516G>C
c.2967G>C (p.Gln989His)
n.7316G>C
n.872G>C
n.1071G>C
c.2997G>C (p.Gln999His)
c.2910G>C (p.Gln970His)
c.1869G>C (p.Gln623His)
17g.46031695C>TCA500371761KANSL1c.3099G>A (p.Gln1033=)
c.3096G>A (p.Gln1032=)
c.2907G>A (p.Gln969=)
n.516G>A
c.2967G>A (p.Gln989=)
n.7316G>A
n.872G>A
n.1071G>A
c.2997G>A (p.Gln999=)
c.2910G>A (p.Gln970=)
c.1869G>A (p.Gln623=)
17g.46031696T>ACA399986173KANSL1c.3098A>T (p.Gln1033Leu)
c.3095A>T (p.Gln1032Leu)
c.2906A>T (p.Gln969Leu)
n.515A>T
c.2966A>T (p.Gln989Leu)
n.7315A>T
n.871A>T
n.1070A>T
c.2996A>T (p.Gln999Leu)
c.2909A>T (p.Gln970Leu)
c.1868A>T (p.Gln623Leu)
17g.46031696T>CCA399986174KANSL1c.3098A>G (p.Gln1033Arg)
c.3095A>G (p.Gln1032Arg)
c.2906A>G (p.Gln969Arg)
n.515A>G
c.2966A>G (p.Gln989Arg)
n.7315A>G
n.871A>G
n.1070A>G
c.2996A>G (p.Gln999Arg)
c.2909A>G (p.Gln970Arg)
c.1868A>G (p.Gln623Arg)
17g.46031696T>GCA399986175KANSL1c.3098A>C (p.Gln1033Pro)
c.3095A>C (p.Gln1032Pro)
c.2906A>C (p.Gln969Pro)
n.515A>C
c.2966A>C (p.Gln989Pro)
n.7315A>C
n.871A>C
n.1070A>C
c.2996A>C (p.Gln999Pro)
c.2909A>C (p.Gln970Pro)
c.1868A>C (p.Gln623Pro)
17g.46031697G>ACA399986176KANSL1c.3097C>T (p.Gln1033Ter)
c.3094C>T (p.Gln1032Ter)
c.2905C>T (p.Gln969Ter)
n.514C>T
c.2965C>T (p.Gln989Ter)
n.7314C>T
n.870C>T
n.1069C>T
c.2995C>T (p.Gln999Ter)
c.2908C>T (p.Gln970Ter)
c.1867C>T (p.Gln623Ter)
17g.46031697G>CCA399986177KANSL1c.3097C>G (p.Gln1033Glu)
c.3094C>G (p.Gln1032Glu)
c.2905C>G (p.Gln969Glu)
n.514C>G
c.2965C>G (p.Gln989Glu)
n.7314C>G
n.870C>G
n.1069C>G
c.2995C>G (p.Gln999Glu)
c.2908C>G (p.Gln970Glu)
c.1867C>G (p.Gln623Glu)
17g.46031697G>TCA399986178KANSL1c.3097C>A (p.Gln1033Lys)
c.3094C>A (p.Gln1032Lys)
c.2905C>A (p.Gln969Lys)
n.514C>A
c.2965C>A (p.Gln989Lys)
n.7314C>A
n.870C>A
n.1069C>A
c.2995C>A (p.Gln999Lys)
c.2908C>A (p.Gln970Lys)
c.1867C>A (p.Gln623Lys)
17g.46031698G>ACA500371771KANSL1c.3096C>T (p.Val1032=)
c.3093C>T (p.Val1031=)
c.2904C>T (p.Val968=)
n.513C>T
c.2964C>T (p.Val988=)
n.7313C>T
n.869C>T
n.1068C>T
c.2994C>T (p.Val998=)
c.2907C>T (p.Val969=)
c.1866C>T (p.Val622=)
17g.46031698G>CCA500371769KANSL1c.3096C>G (p.Val1032=)
c.3093C>G (p.Val1031=)
c.2904C>G (p.Val968=)
n.513C>G
c.2964C>G (p.Val988=)
n.7313C>G
n.869C>G
n.1068C>G
c.2994C>G (p.Val998=)
c.2907C>G (p.Val969=)
c.1866C>G (p.Val622=)
gnomAD v4
17g.46031698G>TCA500371772KANSL1c.3096C>A (p.Val1032=)
c.3093C>A (p.Val1031=)
c.2904C>A (p.Val968=)
n.513C>A
c.2964C>A (p.Val988=)
n.7313C>A
n.869C>A
n.1068C>A
c.2994C>A (p.Val998=)
c.2907C>A (p.Val969=)
c.1866C>A (p.Val622=)
17g.46031699A>CCA399986181KANSL1c.3095T>G (p.Val1032Gly)
c.3092T>G (p.Val1031Gly)
c.2903T>G (p.Val968Gly)
n.512T>G
c.2963T>G (p.Val988Gly)
n.7312T>G
n.868T>G
n.1067T>G
c.2993T>G (p.Val998Gly)
c.2906T>G (p.Val969Gly)
c.1865T>G (p.Val622Gly)
17g.46031699A>GCA399986180KANSL1c.3095T>C (p.Val1032Ala)
c.3092T>C (p.Val1031Ala)
c.2903T>C (p.Val968Ala)
n.512T>C
c.2963T>C (p.Val988Ala)
n.7312T>C
n.868T>C
n.1067T>C
c.2993T>C (p.Val998Ala)
c.2906T>C (p.Val969Ala)
c.1865T>C (p.Val622Ala)
gnomAD v4
17g.46031699A>TCA399986179KANSL1c.3095T>A (p.Val1032Asp)
c.3092T>A (p.Val1031Asp)
c.2903T>A (p.Val968Asp)
n.512T>A
c.2963T>A (p.Val988Asp)
n.7312T>A
n.868T>A
n.1067T>A
c.2993T>A (p.Val998Asp)
c.2906T>A (p.Val969Asp)
c.1865T>A (p.Val622Asp)
17g.46031700C>ACA16607296KANSL1c.3094G>T (p.Val1032Phe)
c.3091G>T (p.Val1031Phe)
c.2902G>T (p.Val968Phe)
n.511G>T
c.2962G>T (p.Val988Phe)
n.7311G>T
n.867G>T
n.1066G>T
c.2992G>T (p.Val998Phe)
c.2905G>T (p.Val969Phe)
c.1864G>T (p.Val622Phe)
ClinVar dbSNP gnomAD v4
17g.46031700C=CA2262110805KANSL1c.3094G= (p.Val1032=)
c.3091G= (p.Val1031=)
c.2902G= (p.Val968=)
n.511G=
c.2962G= (p.Val988=)
n.7311G=
n.867G=
n.1066G=
c.2992G= (p.Val998=)
c.2905G= (p.Val969=)
c.1864G= (p.Val622=)
17g.46031700C>GCA8618366KANSL1c.3094G>C (p.Val1032Leu)
c.3091G>C (p.Val1031Leu)
c.2902G>C (p.Val968Leu)
n.511G>C
c.2962G>C (p.Val988Leu)
n.7311G>C
n.867G>C
n.1066G>C
c.2992G>C (p.Val998Leu)
c.2905G>C (p.Val969Leu)
c.1864G>C (p.Val622Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031700C>TCA399986182KANSL1c.3094G>A (p.Val1032Ile)
c.3091G>A (p.Val1031Ile)
c.2902G>A (p.Val968Ile)
n.511G>A
c.2962G>A (p.Val988Ile)
n.7311G>A
n.867G>A
n.1066G>A
c.2992G>A (p.Val998Ile)
c.2905G>A (p.Val969Ile)
c.1864G>A (p.Val622Ile)
gnomAD v4
17g.46031701A>CCA500371779KANSL1c.3093T>G (p.Ser1031=)
c.3090T>G (p.Ser1030=)
c.2901T>G (p.Ser967=)
n.510T>G
c.2961T>G (p.Ser987=)
n.7310T>G
n.866T>G
n.1065T>G
c.2991T>G (p.Ser997=)
c.2904T>G (p.Ser968=)
c.1863T>G (p.Ser621=)
17g.46031701A>GCA500371781KANSL1c.3093T>C (p.Ser1031=)
c.3090T>C (p.Ser1030=)
c.2901T>C (p.Ser967=)
n.510T>C
c.2961T>C (p.Ser987=)
n.7310T>C
n.866T>C
n.1065T>C
c.2991T>C (p.Ser997=)
c.2904T>C (p.Ser968=)
c.1863T>C (p.Ser621=)
17g.46031701A>TCA500371783KANSL1c.3093T>A (p.Ser1031=)
c.3090T>A (p.Ser1030=)
c.2901T>A (p.Ser967=)
n.510T>A
c.2961T>A (p.Ser987=)
n.7310T>A
n.866T>A
n.1065T>A
c.2991T>A (p.Ser997=)
c.2904T>A (p.Ser968=)
c.1863T>A (p.Ser621=)
17g.46031702G>ACA399986183KANSL1c.3092C>T (p.Ser1031Phe)
c.3089C>T (p.Ser1030Phe)
c.2900C>T (p.Ser967Phe)
n.509C>T
c.2960C>T (p.Ser987Phe)
n.7309C>T
n.865C>T
n.1064C>T
c.2990C>T (p.Ser997Phe)
c.2903C>T (p.Ser968Phe)
c.1862C>T (p.Ser621Phe)
17g.46031702G>CCA399986184KANSL1c.3092C>G (p.Ser1031Cys)
c.3089C>G (p.Ser1030Cys)
c.2900C>G (p.Ser967Cys)
n.509C>G
c.2960C>G (p.Ser987Cys)
n.7309C>G
n.865C>G
n.1064C>G
c.2990C>G (p.Ser997Cys)
c.2903C>G (p.Ser968Cys)
c.1862C>G (p.Ser621Cys)
17g.46031702G>TCA399986185KANSL1c.3092C>A (p.Ser1031Tyr)
c.3089C>A (p.Ser1030Tyr)
c.2900C>A (p.Ser967Tyr)
n.509C>A
c.2960C>A (p.Ser987Tyr)
n.7309C>A
n.865C>A
n.1064C>A
c.2990C>A (p.Ser997Tyr)
c.2903C>A (p.Ser968Tyr)
c.1862C>A (p.Ser621Tyr)
17g.46031703A>CCA399986186KANSL1c.3091T>G (p.Ser1031Ala)
c.3088T>G (p.Ser1030Ala)
c.2899T>G (p.Ser967Ala)
n.508T>G
c.2959T>G (p.Ser987Ala)
n.7308T>G
n.864T>G
n.1063T>G
c.2989T>G (p.Ser997Ala)
c.2902T>G (p.Ser968Ala)
c.1861T>G (p.Ser621Ala)
17g.46031703A>GCA399986187KANSL1c.3091T>C (p.Ser1031Pro)
c.3088T>C (p.Ser1030Pro)
c.2899T>C (p.Ser967Pro)
n.508T>C
c.2959T>C (p.Ser987Pro)
n.7308T>C
n.864T>C
n.1063T>C
c.2989T>C (p.Ser997Pro)
c.2902T>C (p.Ser968Pro)
c.1861T>C (p.Ser621Pro)
17g.46031703A>TCA399986188KANSL1c.3091T>A (p.Ser1031Thr)
c.3088T>A (p.Ser1030Thr)
c.2899T>A (p.Ser967Thr)
n.508T>A
c.2959T>A (p.Ser987Thr)
n.7308T>A
n.864T>A
n.1063T>A
c.2989T>A (p.Ser997Thr)
c.2902T>A (p.Ser968Thr)
c.1861T>A (p.Ser621Thr)
17g.46031704C>ACA399986190KANSL1c.3091-1G>T (n.3091-1G>T)
c.3088-1G>T (n.3088-1G>T)
c.2899-1G>T (n.2899-1G>T)
n.508-1G>T
c.2959-1G>T (n.2959-1G>T)
n.7308-1G>T
n.863G>T
n.1063-1G>T
c.2989-1G>T (n.2989-1G>T)
c.2902-1G>T (n.2902-1G>T)
c.1861-1G>T (n.1861-1G>T)
17g.46031704C=CA2262110806KANSL1c.3091-1G= (n.3091-1G=)
c.3088-1G= (n.3088-1G=)
c.2899-1G= (n.2899-1G=)
n.508-1G=
c.2959-1G= (n.2959-1G=)
n.7308-1G=
n.863G=
n.1063-1G=
c.2989-1G= (n.2989-1G=)
c.2902-1G= (n.2902-1G=)
c.1861-1G= (n.1861-1G=)
17g.46031704C>GCA399986192KANSL1c.3091-1G>C (n.3091-1G>C)
c.3088-1G>C (n.3088-1G>C)
c.2899-1G>C (n.2899-1G>C)
n.508-1G>C
c.2959-1G>C (n.2959-1G>C)
n.7308-1G>C
n.863G>C
n.1063-1G>C
c.2989-1G>C (n.2989-1G>C)
c.2902-1G>C (n.2902-1G>C)
c.1861-1G>C (n.1861-1G>C)
17g.46031704C>TCA399986193KANSL1c.3091-1G>A (n.3091-1G>A)
c.3088-1G>A (n.3088-1G>A)
c.2899-1G>A (n.2899-1G>A)
n.508-1G>A
c.2959-1G>A (n.2959-1G>A)
n.7308-1G>A
n.863G>A
n.1063-1G>A
c.2989-1G>A (n.2989-1G>A)
c.2902-1G>A (n.2902-1G>A)
c.1861-1G>A (n.1861-1G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46031705T>ACA399986198KANSL1c.3091-2A>T (n.3091-2A>T)
c.3088-2A>T (n.3088-2A>T)
c.2899-2A>T (n.2899-2A>T)
n.508-2A>T
c.2959-2A>T (n.2959-2A>T)
n.7308-2A>T
n.862A>T
n.1063-2A>T
c.2989-2A>T (n.2989-2A>T)
c.2902-2A>T (n.2902-2A>T)
c.1861-2A>T (n.1861-2A>T)
gnomAD v4
17g.46031705T>CCA291125507KANSL1c.3091-2A>G (n.3091-2A>G)
c.3088-2A>G (n.3088-2A>G)
c.2899-2A>G (n.2899-2A>G)
n.508-2A>G
c.2959-2A>G (n.2959-2A>G)
n.7308-2A>G
n.862A>G
n.1063-2A>G
c.2989-2A>G (n.2989-2A>G)
c.2902-2A>G (n.2902-2A>G)
c.1861-2A>G (n.1861-2A>G)
dbSNP
17g.46031705T>GCA399986196KANSL1c.3091-2A>C (n.3091-2A>C)
c.3088-2A>C (n.3088-2A>C)
c.2899-2A>C (n.2899-2A>C)
n.508-2A>C
c.2959-2A>C (n.2959-2A>C)
n.7308-2A>C
n.862A>C
n.1063-2A>C
c.2989-2A>C (n.2989-2A>C)
c.2902-2A>C (n.2902-2A>C)
c.1861-2A>C (n.1861-2A>C)
17g.46031705T=CA2262110807KANSL1c.3091-2A= (n.3091-2A=)
c.3088-2A= (n.3088-2A=)
c.2899-2A= (n.2899-2A=)
n.508-2A=
c.2959-2A= (n.2959-2A=)
n.7308-2A=
n.862A=
n.1063-2A=
c.2989-2A= (n.2989-2A=)
c.2902-2A= (n.2902-2A=)
c.1861-2A= (n.1861-2A=)
17g.46031705_46031708dupCA8618367KANSL1c.3091-5_3091-2dup (n.3091-5_3091-2dup)
c.3088-5_3088-2dup (n.3088-5_3088-2dup)
c.2899-5_2899-2dup (n.2899-5_2899-2dup)
n.508-5_508-2dup
c.2959-5_2959-2dup (n.2959-5_2959-2dup)
n.7308-5_7308-2dup
n.859_862dup
n.1063-5_1063-2dup
c.2989-5_2989-2dup (n.2989-5_2989-2dup)
c.2902-5_2902-2dup (n.2902-5_2902-2dup)
c.1861-5_1861-2dup (n.1861-5_1861-2dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031706G>ACA8618368KANSL1c.3091-3C>T (n.3091-3C>T)
c.3088-3C>T (n.3088-3C>T)
c.2899-3C>T (n.2899-3C>T)
n.508-3C>T
c.2959-3C>T (n.2959-3C>T)
n.7308-3C>T
n.861C>T
n.1063-3C>T
c.2989-3C>T (n.2989-3C>T)
c.2902-3C>T (n.2902-3C>T)
c.1861-3C>T (n.1861-3C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031706G=CA2262110808KANSL1c.3091-3C= (n.3091-3C=)
c.3088-3C= (n.3088-3C=)
c.2899-3C= (n.2899-3C=)
n.508-3C=
c.2959-3C= (n.2959-3C=)
n.7308-3C=
n.861C=
n.1063-3C=
c.2989-3C= (n.2989-3C=)
c.2902-3C= (n.2902-3C=)
c.1861-3C= (n.1861-3C=)
17g.46031706G>TCA8618369KANSL1c.3091-3C>A (n.3091-3C>A)
c.3088-3C>A (n.3088-3C>A)
c.2899-3C>A (n.2899-3C>A)
n.508-3C>A
c.2959-3C>A (n.2959-3C>A)
n.7308-3C>A
n.861C>A
n.1063-3C>A
c.2989-3C>A (n.2989-3C>A)
c.2902-3C>A (n.2902-3C>A)
c.1861-3C>A (n.1861-3C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched