Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.46032045A>CCA399986227KANSL1c.3090+2T>G (n.3090+2T>G)
c.3087+2T>G (n.3087+2T>G)
c.2898+2T>G (n.2898+2T>G)
n.507+2T>G
c.2958+2T>G (n.2958+2T>G)
n.7307+2T>G
n.522T>G
n.1062+2T>G
c.2988+2T>G (n.2988+2T>G)
c.2901+2T>G (n.2901+2T>G)
c.1860+2T>G (n.1860+2T>G)
17g.46032045A>GCA399986230KANSL1c.3090+2T>C (n.3090+2T>C)
c.3087+2T>C (n.3087+2T>C)
c.2898+2T>C (n.2898+2T>C)
n.507+2T>C
c.2958+2T>C (n.2958+2T>C)
n.7307+2T>C
n.522T>C
n.1062+2T>C
c.2988+2T>C (n.2988+2T>C)
c.2901+2T>C (n.2901+2T>C)
c.1860+2T>C (n.1860+2T>C)
17g.46032045A>TCA399986228KANSL1c.3090+2T>A (n.3090+2T>A)
c.3087+2T>A (n.3087+2T>A)
c.2898+2T>A (n.2898+2T>A)
n.507+2T>A
c.2958+2T>A (n.2958+2T>A)
n.7307+2T>A
n.522T>A
n.1062+2T>A
c.2988+2T>A (n.2988+2T>A)
c.2901+2T>A (n.2901+2T>A)
c.1860+2T>A (n.1860+2T>A)
17g.46032046C>ACA399986232KANSL1c.3090+1G>T (n.3090+1G>T)
c.3087+1G>T (n.3087+1G>T)
c.2898+1G>T (n.2898+1G>T)
n.507+1G>T
c.2958+1G>T (n.2958+1G>T)
n.7307+1G>T
n.521G>T
n.1062+1G>T
c.2988+1G>T (n.2988+1G>T)
c.2901+1G>T (n.2901+1G>T)
c.1860+1G>T (n.1860+1G>T)
17g.46032046C>GCA399986234KANSL1c.3090+1G>C (n.3090+1G>C)
c.3087+1G>C (n.3087+1G>C)
c.2898+1G>C (n.2898+1G>C)
n.507+1G>C
c.2958+1G>C (n.2958+1G>C)
n.7307+1G>C
n.521G>C
n.1062+1G>C
c.2988+1G>C (n.2988+1G>C)
c.2901+1G>C (n.2901+1G>C)
c.1860+1G>C (n.1860+1G>C)
17g.46032046C>TCA399986235KANSL1c.3090+1G>A (n.3090+1G>A)
c.3087+1G>A (n.3087+1G>A)
c.2898+1G>A (n.2898+1G>A)
n.507+1G>A
c.2958+1G>A (n.2958+1G>A)
n.7307+1G>A
n.521G>A
n.1062+1G>A
c.2988+1G>A (n.2988+1G>A)
c.2901+1G>A (n.2901+1G>A)
c.1860+1G>A (n.1860+1G>A)
 gnomAD v4
17g.46032047C>ACA399986237KANSL1c.3090G>T (p.Gln1030His)
c.3087G>T (p.Gln1029His)
c.2898G>T (p.Gln966His)
n.507G>T
c.2958G>T (p.Gln986His)
n.7307G>T
n.520G>T
n.1062G>T
c.2988G>T (p.Gln996His)
c.2901G>T (p.Gln967His)
c.1860G>T (p.Gln620His)
17g.46032047C=CA2262110980KANSL1c.3090G= (p.Gln1030=)
c.3087G= (p.Gln1029=)
c.2898G= (p.Gln966=)
n.507G=
c.2958G= (p.Gln986=)
n.7307G=
n.520G=
n.1062G=
c.2988G= (p.Gln996=)
c.2901G= (p.Gln967=)
c.1860G= (p.Gln620=)
17g.46032047C>GCA399986239KANSL1c.3090G>C (p.Gln1030His)
c.3087G>C (p.Gln1029His)
c.2898G>C (p.Gln966His)
n.507G>C
c.2958G>C (p.Gln986His)
n.7307G>C
n.520G>C
n.1062G>C
c.2988G>C (p.Gln996His)
c.2901G>C (p.Gln967His)
c.1860G>C (p.Gln620His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46032047C>TCA500371909KANSL1c.3090G>A (p.Gln1030=)
c.3087G>A (p.Gln1029=)
c.2898G>A (p.Gln966=)
n.507G>A
c.2958G>A (p.Gln986=)
n.7307G>A
n.520G>A
n.1062G>A
c.2988G>A (p.Gln996=)
c.2901G>A (p.Gln967=)
c.1860G>A (p.Gln620=)
17g.46032048T>ACA399986241KANSL1c.3089A>T (p.Gln1030Leu)
c.3086A>T (p.Gln1029Leu)
c.2897A>T (p.Gln966Leu)
n.506A>T
c.2957A>T (p.Gln986Leu)
n.7306A>T
n.519A>T
n.1061A>T
c.2987A>T (p.Gln996Leu)
c.2900A>T (p.Gln967Leu)
c.1859A>T (p.Gln620Leu)
17g.46032048T>CCA399986243KANSL1c.3089A>G (p.Gln1030Arg)
c.3086A>G (p.Gln1029Arg)
c.2897A>G (p.Gln966Arg)
n.506A>G
c.2957A>G (p.Gln986Arg)
n.7306A>G
n.519A>G
n.1061A>G
c.2987A>G (p.Gln996Arg)
c.2900A>G (p.Gln967Arg)
c.1859A>G (p.Gln620Arg)
 dbSNP COSMIC
17g.46032048T>GCA399986245KANSL1c.3089A>C (p.Gln1030Pro)
c.3086A>C (p.Gln1029Pro)
c.2897A>C (p.Gln966Pro)
n.506A>C
c.2957A>C (p.Gln986Pro)
n.7306A>C
n.519A>C
n.1061A>C
c.2987A>C (p.Gln996Pro)
c.2900A>C (p.Gln967Pro)
c.1859A>C (p.Gln620Pro)
17g.46032048T=CA2262110981KANSL1c.3089A= (p.Gln1030=)
c.3086A= (p.Gln1029=)
c.2897A= (p.Gln966=)
n.506A=
c.2957A= (p.Gln986=)
n.7306A=
n.519A=
n.1061A=
c.2987A= (p.Gln996=)
c.2900A= (p.Gln967=)
c.1859A= (p.Gln620=)
17g.46032049G>ACA399986247KANSL1c.3088C>T (p.Gln1030Ter)
c.3085C>T (p.Gln1029Ter)
c.2896C>T (p.Gln966Ter)
n.505C>T
c.2956C>T (p.Gln986Ter)
n.7305C>T
n.518C>T
n.1060C>T
c.2986C>T (p.Gln996Ter)
c.2899C>T (p.Gln967Ter)
c.1858C>T (p.Gln620Ter)
17g.46032049G>CCA399986248KANSL1c.3088C>G (p.Gln1030Glu)
c.3085C>G (p.Gln1029Glu)
c.2896C>G (p.Gln966Glu)
n.505C>G
c.2956C>G (p.Gln986Glu)
n.7305C>G
n.518C>G
n.1060C>G
c.2986C>G (p.Gln996Glu)
c.2899C>G (p.Gln967Glu)
c.1858C>G (p.Gln620Glu)
17g.46032049G>TCA399986249KANSL1c.3088C>A (p.Gln1030Lys)
c.3085C>A (p.Gln1029Lys)
c.2896C>A (p.Gln966Lys)
n.505C>A
c.2956C>A (p.Gln986Lys)
n.7305C>A
n.518C>A
n.1060C>A
c.2986C>A (p.Gln996Lys)
c.2899C>A (p.Gln967Lys)
c.1858C>A (p.Gln620Lys)
17g.46032050T>ACA399986251KANSL1c.3087A>T (p.Glu1029Asp)
c.3084A>T (p.Glu1028Asp)
c.2895A>T (p.Glu965Asp)
n.504A>T
c.2955A>T (p.Glu985Asp)
n.7304A>T
n.517A>T
n.1059A>T
c.2985A>T (p.Glu995Asp)
c.2898A>T (p.Glu966Asp)
c.1857A>T (p.Glu619Asp)
17g.46032050T>CCA500371910KANSL1c.3087A>G (p.Glu1029=)
c.3084A>G (p.Glu1028=)
c.2895A>G (p.Glu965=)
n.504A>G
c.2955A>G (p.Glu985=)
n.7304A>G
n.517A>G
n.1059A>G
c.2985A>G (p.Glu995=)
c.2898A>G (p.Glu966=)
c.1857A>G (p.Glu619=)
 COSMIC
17g.46032050T>GCA399986252KANSL1c.3087A>C (p.Glu1029Asp)
c.3084A>C (p.Glu1028Asp)
c.2895A>C (p.Glu965Asp)
n.504A>C
c.2955A>C (p.Glu985Asp)
n.7304A>C
n.517A>C
n.1059A>C
c.2985A>C (p.Glu995Asp)
c.2898A>C (p.Glu966Asp)
c.1857A>C (p.Glu619Asp)
17g.46032051T>ACA399986256KANSL1c.3086A>T (p.Glu1029Val)
c.3083A>T (p.Glu1028Val)
c.2894A>T (p.Glu965Val)
n.503A>T
c.2954A>T (p.Glu985Val)
n.7303A>T
n.516A>T
n.1058A>T
c.2984A>T (p.Glu995Val)
c.2897A>T (p.Glu966Val)
c.1856A>T (p.Glu619Val)
17g.46032051T>CCA399986253KANSL1c.3086A>G (p.Glu1029Gly)
c.3083A>G (p.Glu1028Gly)
c.2894A>G (p.Glu965Gly)
n.503A>G
c.2954A>G (p.Glu985Gly)
n.7303A>G
n.516A>G
n.1058A>G
c.2984A>G (p.Glu995Gly)
c.2897A>G (p.Glu966Gly)
c.1856A>G (p.Glu619Gly)
17g.46032051T>GCA399986255KANSL1c.3086A>C (p.Glu1029Ala)
c.3083A>C (p.Glu1028Ala)
c.2894A>C (p.Glu965Ala)
n.503A>C
c.2954A>C (p.Glu985Ala)
n.7303A>C
n.516A>C
n.1058A>C
c.2984A>C (p.Glu995Ala)
c.2897A>C (p.Glu966Ala)
c.1856A>C (p.Glu619Ala)
17g.46032052C>ACA399986259KANSL1c.3085G>T (p.Glu1029Ter)
c.3082G>T (p.Glu1028Ter)
c.2893G>T (p.Glu965Ter)
n.502G>T
c.2953G>T (p.Glu985Ter)
n.7302G>T
n.515G>T
n.1057G>T
c.2983G>T (p.Glu995Ter)
c.2896G>T (p.Glu966Ter)
c.1855G>T (p.Glu619Ter)
17g.46032052C>GCA399986260KANSL1c.3085G>C (p.Glu1029Gln)
c.3082G>C (p.Glu1028Gln)
c.2893G>C (p.Glu965Gln)
n.502G>C
c.2953G>C (p.Glu985Gln)
n.7302G>C
n.515G>C
n.1057G>C
c.2983G>C (p.Glu995Gln)
c.2896G>C (p.Glu966Gln)
c.1855G>C (p.Glu619Gln)
17g.46032052C>TCA399986262KANSL1c.3085G>A (p.Glu1029Lys)
c.3082G>A (p.Glu1028Lys)
c.2893G>A (p.Glu965Lys)
n.502G>A
c.2953G>A (p.Glu985Lys)
n.7302G>A
n.515G>A
n.1057G>A
c.2983G>A (p.Glu995Lys)
c.2896G>A (p.Glu966Lys)
c.1855G>A (p.Glu619Lys)
17g.46032053A>CCA399986263KANSL1c.3084T>G (p.Asp1028Glu)
c.3081T>G (p.Asp1027Glu)
c.2892T>G (p.Asp964Glu)
n.501T>G
c.2952T>G (p.Asp984Glu)
n.7301T>G
n.514T>G
n.1056T>G
c.2982T>G (p.Asp994Glu)
c.2895T>G (p.Asp965Glu)
c.1854T>G (p.Asp618Glu)
17g.46032053A>GCA500371911KANSL1c.3084T>C (p.Asp1028=)
c.3081T>C (p.Asp1027=)
c.2892T>C (p.Asp964=)
n.501T>C
c.2952T>C (p.Asp984=)
n.7301T>C
n.514T>C
n.1056T>C
c.2982T>C (p.Asp994=)
c.2895T>C (p.Asp965=)
c.1854T>C (p.Asp618=)
17g.46032053A>TCA399986264KANSL1c.3084T>A (p.Asp1028Glu)
c.3081T>A (p.Asp1027Glu)
c.2892T>A (p.Asp964Glu)
n.501T>A
c.2952T>A (p.Asp984Glu)
n.7301T>A
n.514T>A
n.1056T>A
c.2982T>A (p.Asp994Glu)
c.2895T>A (p.Asp965Glu)
c.1854T>A (p.Asp618Glu)
17g.46032054T>ACA399986266KANSL1c.3083A>T (p.Asp1028Val)
c.3080A>T (p.Asp1027Val)
c.2891A>T (p.Asp964Val)
n.500A>T
c.2951A>T (p.Asp984Val)
n.7300A>T
n.513A>T
n.1055A>T
c.2981A>T (p.Asp994Val)
c.2894A>T (p.Asp965Val)
c.1853A>T (p.Asp618Val)
17g.46032054T>CCA399986268KANSL1c.3083A>G (p.Asp1028Gly)
c.3080A>G (p.Asp1027Gly)
c.2891A>G (p.Asp964Gly)
n.500A>G
c.2951A>G (p.Asp984Gly)
n.7300A>G
n.513A>G
n.1055A>G
c.2981A>G (p.Asp994Gly)
c.2894A>G (p.Asp965Gly)
c.1853A>G (p.Asp618Gly)
17g.46032054T>GCA399986269KANSL1c.3083A>C (p.Asp1028Ala)
c.3080A>C (p.Asp1027Ala)
c.2891A>C (p.Asp964Ala)
n.500A>C
c.2951A>C (p.Asp984Ala)
n.7300A>C
n.513A>C
n.1055A>C
c.2981A>C (p.Asp994Ala)
c.2894A>C (p.Asp965Ala)
c.1853A>C (p.Asp618Ala)
17g.46032055C>ACA399986272KANSL1c.3082G>T (p.Asp1028Tyr)
c.3079G>T (p.Asp1027Tyr)
c.2890G>T (p.Asp964Tyr)
n.499G>T
c.2950G>T (p.Asp984Tyr)
n.7299G>T
n.512G>T
n.1054G>T
c.2980G>T (p.Asp994Tyr)
c.2893G>T (p.Asp965Tyr)
c.1852G>T (p.Asp618Tyr)
17g.46032055C=CA2262110982KANSL1c.3082G= (p.Asp1028=)
c.3079G= (p.Asp1027=)
c.2890G= (p.Asp964=)
n.499G=
c.2950G= (p.Asp984=)
n.7299G=
n.512G=
n.1054G=
c.2980G= (p.Asp994=)
c.2893G= (p.Asp965=)
c.1852G= (p.Asp618=)
17g.46032055C>GCA315132KANSL1c.3082G>C (p.Asp1028His)
c.3079G>C (p.Asp1027His)
c.2890G>C (p.Asp964His)
n.499G>C
c.2950G>C (p.Asp984His)
n.7299G>C
n.512G>C
n.1054G>C
c.2980G>C (p.Asp994His)
c.2893G>C (p.Asp965His)
c.1852G>C (p.Asp618His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032055C>TCA399986273KANSL1c.3082G>A (p.Asp1028Asn)
c.3079G>A (p.Asp1027Asn)
c.2890G>A (p.Asp964Asn)
n.499G>A
c.2950G>A (p.Asp984Asn)
n.7299G>A
n.512G>A
n.1054G>A
c.2980G>A (p.Asp994Asn)
c.2893G>A (p.Asp965Asn)
c.1852G>A (p.Asp618Asn)
17g.46032056C>ACA500371914KANSL1c.3081G>T (p.Leu1027=)
c.3078G>T (p.Leu1026=)
c.2889G>T (p.Leu963=)
n.498G>T
c.2949G>T (p.Leu983=)
n.7298G>T
n.511G>T
n.1053G>T
c.2979G>T (p.Leu993=)
c.2892G>T (p.Leu964=)
c.1851G>T (p.Leu617=)
17g.46032056C>GCA500371912KANSL1c.3081G>C (p.Leu1027=)
c.3078G>C (p.Leu1026=)
c.2889G>C (p.Leu963=)
n.498G>C
c.2949G>C (p.Leu983=)
n.7298G>C
n.511G>C
n.1053G>C
c.2979G>C (p.Leu993=)
c.2892G>C (p.Leu964=)
c.1851G>C (p.Leu617=)
17g.46032056C>TCA500371913KANSL1c.3081G>A (p.Leu1027=)
c.3078G>A (p.Leu1026=)
c.2889G>A (p.Leu963=)
n.498G>A
c.2949G>A (p.Leu983=)
n.7298G>A
n.511G>A
n.1053G>A
c.2979G>A (p.Leu993=)
c.2892G>A (p.Leu964=)
c.1851G>A (p.Leu617=)
17g.46032057A>CCA399986276KANSL1c.3080T>G (p.Leu1027Arg)
c.3077T>G (p.Leu1026Arg)
c.2888T>G (p.Leu963Arg)
n.497T>G
c.2948T>G (p.Leu983Arg)
n.7297T>G
n.510T>G
n.1052T>G
c.2978T>G (p.Leu993Arg)
c.2891T>G (p.Leu964Arg)
c.1850T>G (p.Leu617Arg)
17g.46032057A>GCA399986279KANSL1c.3080T>C (p.Leu1027Pro)
c.3077T>C (p.Leu1026Pro)
c.2888T>C (p.Leu963Pro)
n.497T>C
c.2948T>C (p.Leu983Pro)
n.7297T>C
n.510T>C
n.1052T>C
c.2978T>C (p.Leu993Pro)
c.2891T>C (p.Leu964Pro)
c.1850T>C (p.Leu617Pro)
17g.46032057A>TCA399986278KANSL1c.3080T>A (p.Leu1027Gln)
c.3077T>A (p.Leu1026Gln)
c.2888T>A (p.Leu963Gln)
n.497T>A
c.2948T>A (p.Leu983Gln)
n.7297T>A
n.510T>A
n.1052T>A
c.2978T>A (p.Leu993Gln)
c.2891T>A (p.Leu964Gln)
c.1850T>A (p.Leu617Gln)
17g.46032058G>ACA500371915KANSL1c.3079C>T (p.Leu1027=)
c.3076C>T (p.Leu1026=)
c.2887C>T (p.Leu963=)
n.496C>T
c.2947C>T (p.Leu983=)
n.7296C>T
n.509C>T
n.1051C>T
c.2977C>T (p.Leu993=)
c.2890C>T (p.Leu964=)
c.1849C>T (p.Leu617=)
 dbSNP gnomAD v3 gnomAD v4
17g.46032058G>CCA399986281KANSL1c.3079C>G (p.Leu1027Val)
c.3076C>G (p.Leu1026Val)
c.2887C>G (p.Leu963Val)
n.496C>G
c.2947C>G (p.Leu983Val)
n.7296C>G
n.509C>G
n.1051C>G
c.2977C>G (p.Leu993Val)
c.2890C>G (p.Leu964Val)
c.1849C>G (p.Leu617Val)
17g.46032058G=CA2262110983KANSL1c.3079C= (p.Leu1027=)
c.3076C= (p.Leu1026=)
c.2887C= (p.Leu963=)
n.496C=
c.2947C= (p.Leu983=)
n.7296C=
n.509C=
n.1051C=
c.2977C= (p.Leu993=)
c.2890C= (p.Leu964=)
c.1849C= (p.Leu617=)
17g.46032058G>TCA399986283KANSL1c.3079C>A (p.Leu1027Met)
c.3076C>A (p.Leu1026Met)
c.2887C>A (p.Leu963Met)
n.496C>A
c.2947C>A (p.Leu983Met)
n.7296C>A
n.509C>A
n.1051C>A
c.2977C>A (p.Leu993Met)
c.2890C>A (p.Leu964Met)
c.1849C>A (p.Leu617Met)
 ClinVar dbSNP
17g.46032059C>ACA500371917KANSL1c.3078G>T (p.Gly1026=)
c.3075G>T (p.Gly1025=)
c.2886G>T (p.Gly962=)
n.495G>T
c.2946G>T (p.Gly982=)
n.7295G>T
n.508G>T
n.1050G>T
c.2976G>T (p.Gly992=)
c.2889G>T (p.Gly963=)
c.1848G>T (p.Gly616=)
17g.46032059C=CA2262110984KANSL1c.3078G= (p.Gly1026=)
c.3075G= (p.Gly1025=)
c.2886G= (p.Gly962=)
n.495G=
c.2946G= (p.Gly982=)
n.7295G=
n.508G=
n.1050G=
c.2976G= (p.Gly992=)
c.2889G= (p.Gly963=)
c.1848G= (p.Gly616=)
17g.46032059C>GCA500371918KANSL1c.3078G>C (p.Gly1026=)
c.3075G>C (p.Gly1025=)
c.2886G>C (p.Gly962=)
n.495G>C
c.2946G>C (p.Gly982=)
n.7295G>C
n.508G>C
n.1050G>C
c.2976G>C (p.Gly992=)
c.2889G>C (p.Gly963=)
c.1848G>C (p.Gly616=)
17g.46032059C>TCA500371916KANSL1c.3078G>A (p.Gly1026=)
c.3075G>A (p.Gly1025=)
c.2886G>A (p.Gly962=)
n.495G>A
c.2946G>A (p.Gly982=)
n.7295G>A
n.508G>A
n.1050G>A
c.2976G>A (p.Gly992=)
c.2889G>A (p.Gly963=)
c.1848G>A (p.Gly616=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46032060C>ACA399986284KANSL1c.3077G>T (p.Gly1026Val)
c.3074G>T (p.Gly1025Val)
c.2885G>T (p.Gly962Val)
n.494G>T
c.2945G>T (p.Gly982Val)
n.7294G>T
n.507G>T
n.1049G>T
c.2975G>T (p.Gly992Val)
c.2888G>T (p.Gly963Val)
c.1847G>T (p.Gly616Val)
17g.46032060C>GCA399986287KANSL1c.3077G>C (p.Gly1026Ala)
c.3074G>C (p.Gly1025Ala)
c.2885G>C (p.Gly962Ala)
n.494G>C
c.2945G>C (p.Gly982Ala)
n.7294G>C
n.507G>C
n.1049G>C
c.2975G>C (p.Gly992Ala)
c.2888G>C (p.Gly963Ala)
c.1847G>C (p.Gly616Ala)
17g.46032060C>TCA399986285KANSL1c.3077G>A (p.Gly1026Glu)
c.3074G>A (p.Gly1025Glu)
c.2885G>A (p.Gly962Glu)
n.494G>A
c.2945G>A (p.Gly982Glu)
n.7294G>A
n.507G>A
n.1049G>A
c.2975G>A (p.Gly992Glu)
c.2888G>A (p.Gly963Glu)
c.1847G>A (p.Gly616Glu)
17g.46032061C>ACA399986289KANSL1c.3076G>T (p.Gly1026Trp)
c.3073G>T (p.Gly1025Trp)
c.2884G>T (p.Gly962Trp)
n.493G>T
c.2944G>T (p.Gly982Trp)
n.7293G>T
n.506G>T
n.1048G>T
c.2974G>T (p.Gly992Trp)
c.2887G>T (p.Gly963Trp)
c.1846G>T (p.Gly616Trp)
17g.46032061C=CA2262110985KANSL1c.3076G= (p.Gly1026=)
c.3073G= (p.Gly1025=)
c.2884G= (p.Gly962=)
n.493G=
c.2944G= (p.Gly982=)
n.7293G=
n.506G=
n.1048G=
c.2974G= (p.Gly992=)
c.2887G= (p.Gly963=)
c.1846G= (p.Gly616=)
17g.46032061C>GCA399986291KANSL1c.3076G>C (p.Gly1026Arg)
c.3073G>C (p.Gly1025Arg)
c.2884G>C (p.Gly962Arg)
n.493G>C
c.2944G>C (p.Gly982Arg)
n.7293G>C
n.506G>C
n.1048G>C
c.2974G>C (p.Gly992Arg)
c.2887G>C (p.Gly963Arg)
c.1846G>C (p.Gly616Arg)
17g.46032061C>TCA399986290KANSL1c.3076G>A (p.Gly1026Arg)
c.3073G>A (p.Gly1025Arg)
c.2884G>A (p.Gly962Arg)
n.493G>A
c.2944G>A (p.Gly982Arg)
n.7293G>A
n.506G>A
n.1048G>A
c.2974G>A (p.Gly992Arg)
c.2887G>A (p.Gly963Arg)
c.1846G>A (p.Gly616Arg)
 dbSNP
17g.46032062C>ACA500371921KANSL1c.3075G>T (p.Leu1025=)
c.3072G>T (p.Leu1024=)
c.2883G>T (p.Leu961=)
n.492G>T
c.2943G>T (p.Leu981=)
n.7292G>T
n.505G>T
n.1047G>T
c.2973G>T (p.Leu991=)
c.2886G>T (p.Leu962=)
c.1845G>T (p.Leu615=)
17g.46032062C>GCA500371920KANSL1c.3075G>C (p.Leu1025=)
c.3072G>C (p.Leu1024=)
c.2883G>C (p.Leu961=)
n.492G>C
c.2943G>C (p.Leu981=)
n.7292G>C
n.505G>C
n.1047G>C
c.2973G>C (p.Leu991=)
c.2886G>C (p.Leu962=)
c.1845G>C (p.Leu615=)
17g.46032062C>TCA500371919KANSL1c.3075G>A (p.Leu1025=)
c.3072G>A (p.Leu1024=)
c.2883G>A (p.Leu961=)
n.492G>A
c.2943G>A (p.Leu981=)
n.7292G>A
n.505G>A
n.1047G>A
c.2973G>A (p.Leu991=)
c.2886G>A (p.Leu962=)
c.1845G>A (p.Leu615=)
17g.46032063A>CCA399986292KANSL1c.3074T>G (p.Leu1025Arg)
c.3071T>G (p.Leu1024Arg)
c.2882T>G (p.Leu961Arg)
n.491T>G
c.2942T>G (p.Leu981Arg)
n.7291T>G
n.504T>G
n.1046T>G
c.2972T>G (p.Leu991Arg)
c.2885T>G (p.Leu962Arg)
c.1844T>G (p.Leu615Arg)
17g.46032063A>GCA399986295KANSL1c.3074T>C (p.Leu1025Pro)
c.3071T>C (p.Leu1024Pro)
c.2882T>C (p.Leu961Pro)
n.491T>C
c.2942T>C (p.Leu981Pro)
n.7291T>C
n.504T>C
n.1046T>C
c.2972T>C (p.Leu991Pro)
c.2885T>C (p.Leu962Pro)
c.1844T>C (p.Leu615Pro)
17g.46032063A>TCA399986294KANSL1c.3074T>A (p.Leu1025Gln)
c.3071T>A (p.Leu1024Gln)
c.2882T>A (p.Leu961Gln)
n.491T>A
c.2942T>A (p.Leu981Gln)
n.7291T>A
n.504T>A
n.1046T>A
c.2972T>A (p.Leu991Gln)
c.2885T>A (p.Leu962Gln)
c.1844T>A (p.Leu615Gln)
17g.46032064G>ACA500371922KANSL1c.3073C>T (p.Leu1025=)
c.3070C>T (p.Leu1024=)
c.2881C>T (p.Leu961=)
n.490C>T
c.2941C>T (p.Leu981=)
n.7290C>T
n.503C>T
n.1045C>T
c.2971C>T (p.Leu991=)
c.2884C>T (p.Leu962=)
c.1843C>T (p.Leu615=)
17g.46032064G>CCA8618389KANSL1c.3073C>G (p.Leu1025Val)
c.3070C>G (p.Leu1024Val)
c.2881C>G (p.Leu961Val)
n.490C>G
c.2941C>G (p.Leu981Val)
n.7290C>G
n.503C>G
n.1045C>G
c.2971C>G (p.Leu991Val)
c.2884C>G (p.Leu962Val)
c.1843C>G (p.Leu615Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032064G=CA2262110986KANSL1c.3073C= (p.Leu1025=)
c.3070C= (p.Leu1024=)
c.2881C= (p.Leu961=)
n.490C=
c.2941C= (p.Leu981=)
n.7290C=
n.503C=
n.1045C=
c.2971C= (p.Leu991=)
c.2884C= (p.Leu962=)
c.1843C= (p.Leu615=)
17g.46032064G>TCA399986299KANSL1c.3073C>A (p.Leu1025Met)
c.3070C>A (p.Leu1024Met)
c.2881C>A (p.Leu961Met)
n.490C>A
c.2941C>A (p.Leu981Met)
n.7290C>A
n.503C>A
n.1045C>A
c.2971C>A (p.Leu991Met)
c.2884C>A (p.Leu962Met)
c.1843C>A (p.Leu615Met)
17g.46032065C>ACA399986301KANSL1c.3072G>T (p.Glu1024Asp)
c.3069G>T (p.Glu1023Asp)
c.2880G>T (p.Glu960Asp)
n.489G>T
c.2940G>T (p.Glu980Asp)
n.7289G>T
n.502G>T
n.1044G>T
c.2970G>T (p.Glu990Asp)
c.2883G>T (p.Glu961Asp)
c.1842G>T (p.Glu614Asp)
17g.46032065C>GCA399986302KANSL1c.3072G>C (p.Glu1024Asp)
c.3069G>C (p.Glu1023Asp)
c.2880G>C (p.Glu960Asp)
n.489G>C
c.2940G>C (p.Glu980Asp)
n.7289G>C
n.502G>C
n.1044G>C
c.2970G>C (p.Glu990Asp)
c.2883G>C (p.Glu961Asp)
c.1842G>C (p.Glu614Asp)
17g.46032065C>TCA500371923KANSL1c.3072G>A (p.Glu1024=)
c.3069G>A (p.Glu1023=)
c.2880G>A (p.Glu960=)
n.489G>A
c.2940G>A (p.Glu980=)
n.7289G>A
n.502G>A
n.1044G>A
c.2970G>A (p.Glu990=)
c.2883G>A (p.Glu961=)
c.1842G>A (p.Glu614=)
17g.46032066T>ACA399986305KANSL1c.3071A>T (p.Glu1024Val)
c.3068A>T (p.Glu1023Val)
c.2879A>T (p.Glu960Val)
n.488A>T
c.2939A>T (p.Glu980Val)
n.7288A>T
n.501A>T
n.1043A>T
c.2969A>T (p.Glu990Val)
c.2882A>T (p.Glu961Val)
c.1841A>T (p.Glu614Val)
17g.46032066T>CCA399986308KANSL1c.3071A>G (p.Glu1024Gly)
c.3068A>G (p.Glu1023Gly)
c.2879A>G (p.Glu960Gly)
n.488A>G
c.2939A>G (p.Glu980Gly)
n.7288A>G
n.501A>G
n.1043A>G
c.2969A>G (p.Glu990Gly)
c.2882A>G (p.Glu961Gly)
c.1841A>G (p.Glu614Gly)
17g.46032066T>GCA399986306KANSL1c.3071A>C (p.Glu1024Ala)
c.3068A>C (p.Glu1023Ala)
c.2879A>C (p.Glu960Ala)
n.488A>C
c.2939A>C (p.Glu980Ala)
n.7288A>C
n.501A>C
n.1043A>C
c.2969A>C (p.Glu990Ala)
c.2882A>C (p.Glu961Ala)
c.1841A>C (p.Glu614Ala)
17g.46032067C>ACA399986309KANSL1c.3070G>T (p.Glu1024Ter)
c.3067G>T (p.Glu1023Ter)
c.2878G>T (p.Glu960Ter)
n.487G>T
c.2938G>T (p.Glu980Ter)
n.7287G>T
n.500G>T
n.1042G>T
c.2968G>T (p.Glu990Ter)
c.2881G>T (p.Glu961Ter)
c.1840G>T (p.Glu614Ter)
17g.46032067C=CA2262110987KANSL1c.3070G= (p.Glu1024=)
c.3067G= (p.Glu1023=)
c.2878G= (p.Glu960=)
n.487G=
c.2938G= (p.Glu980=)
n.7287G=
n.500G=
n.1042G=
c.2968G= (p.Glu990=)
c.2881G= (p.Glu961=)
c.1840G= (p.Glu614=)
17g.46032067C>GCA399986311KANSL1c.3070G>C (p.Glu1024Gln)
c.3067G>C (p.Glu1023Gln)
c.2878G>C (p.Glu960Gln)
n.487G>C
c.2938G>C (p.Glu980Gln)
n.7287G>C
n.500G>C
n.1042G>C
c.2968G>C (p.Glu990Gln)
c.2881G>C (p.Glu961Gln)
c.1840G>C (p.Glu614Gln)
17g.46032067C>TCA8618390KANSL1c.3070G>A (p.Glu1024Lys)
c.3067G>A (p.Glu1023Lys)
c.2878G>A (p.Glu960Lys)
n.487G>A
c.2938G>A (p.Glu980Lys)
n.7287G>A
n.500G>A
n.1042G>A
c.2968G>A (p.Glu990Lys)
c.2881G>A (p.Glu961Lys)
c.1840G>A (p.Glu614Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032068T>ACA500371926KANSL1c.3069A>T (p.Pro1023=)
c.3066A>T (p.Pro1022=)
c.2877A>T (p.Pro959=)
n.486A>T
c.2937A>T (p.Pro979=)
n.7286A>T
n.499A>T
n.1041A>T
c.2967A>T (p.Pro989=)
c.2880A>T (p.Pro960=)
c.1839A>T (p.Pro613=)
17g.46032068T>CCA500371925KANSL1c.3069A>G (p.Pro1023=)
c.3066A>G (p.Pro1022=)
c.2877A>G (p.Pro959=)
n.486A>G
c.2937A>G (p.Pro979=)
n.7286A>G
n.499A>G
n.1041A>G
c.2967A>G (p.Pro989=)
c.2880A>G (p.Pro960=)
c.1839A>G (p.Pro613=)
17g.46032068T>GCA500371924KANSL1c.3069A>C (p.Pro1023=)
c.3066A>C (p.Pro1022=)
c.2877A>C (p.Pro959=)
n.486A>C
c.2937A>C (p.Pro979=)
n.7286A>C
n.499A>C
n.1041A>C
c.2967A>C (p.Pro989=)
c.2880A>C (p.Pro960=)
c.1839A>C (p.Pro613=)
17g.46032069G>ACA399986312KANSL1c.3068C>T (p.Pro1023Leu)
c.3065C>T (p.Pro1022Leu)
c.2876C>T (p.Pro959Leu)
n.485C>T
c.2936C>T (p.Pro979Leu)
n.7285C>T
n.498C>T
n.1040C>T
c.2966C>T (p.Pro989Leu)
c.2879C>T (p.Pro960Leu)
c.1838C>T (p.Pro613Leu)
 ClinVar
17g.46032069G>CCA399986313KANSL1c.3068C>G (p.Pro1023Arg)
c.3065C>G (p.Pro1022Arg)
c.2876C>G (p.Pro959Arg)
n.485C>G
c.2936C>G (p.Pro979Arg)
n.7285C>G
n.498C>G
n.1040C>G
c.2966C>G (p.Pro989Arg)
c.2879C>G (p.Pro960Arg)
c.1838C>G (p.Pro613Arg)
17g.46032069G>TCA399986315KANSL1c.3068C>A (p.Pro1023Gln)
c.3065C>A (p.Pro1022Gln)
c.2876C>A (p.Pro959Gln)
n.485C>A
c.2936C>A (p.Pro979Gln)
n.7285C>A
n.498C>A
n.1040C>A
c.2966C>A (p.Pro989Gln)
c.2879C>A (p.Pro960Gln)
c.1838C>A (p.Pro613Gln)
17g.46032070G>ACA399986318KANSL1c.3067C>T (p.Pro1023Ser)
c.3064C>T (p.Pro1022Ser)
c.2875C>T (p.Pro959Ser)
n.484C>T
c.2935C>T (p.Pro979Ser)
n.7284C>T
n.497C>T
n.1039C>T
c.2965C>T (p.Pro989Ser)
c.2878C>T (p.Pro960Ser)
c.1837C>T (p.Pro613Ser)
17g.46032070G>CCA399986319KANSL1c.3067C>G (p.Pro1023Ala)
c.3064C>G (p.Pro1022Ala)
c.2875C>G (p.Pro959Ala)
n.484C>G
c.2935C>G (p.Pro979Ala)
n.7284C>G
n.497C>G
n.1039C>G
c.2965C>G (p.Pro989Ala)
c.2878C>G (p.Pro960Ala)
c.1837C>G (p.Pro613Ala)
 dbSNP
17g.46032070G=CA2262110988KANSL1c.3067C= (p.Pro1023=)
c.3064C= (p.Pro1022=)
c.2875C= (p.Pro959=)
n.484C=
c.2935C= (p.Pro979=)
n.7284C=
n.497C=
n.1039C=
c.2965C= (p.Pro989=)
c.2878C= (p.Pro960=)
c.1837C= (p.Pro613=)
17g.46032070G>TCA399986321KANSL1c.3067C>A (p.Pro1023Thr)
c.3064C>A (p.Pro1022Thr)
c.2875C>A (p.Pro959Thr)
n.484C>A
c.2935C>A (p.Pro979Thr)
n.7284C>A
n.497C>A
n.1039C>A
c.2965C>A (p.Pro989Thr)
c.2878C>A (p.Pro960Thr)
c.1837C>A (p.Pro613Thr)
17g.46032071T>ACA500371927KANSL1c.3066A>T (p.Thr1022=)
c.3063A>T (p.Thr1021=)
c.2874A>T (p.Thr958=)
n.483A>T
c.2934A>T (p.Thr978=)
n.7283A>T
n.496A>T
n.1038A>T
c.2964A>T (p.Thr988=)
c.2877A>T (p.Thr959=)
c.1836A>T (p.Thr612=)
17g.46032071T>CCA8618391KANSL1c.3066A>G (p.Thr1022=)
c.3063A>G (p.Thr1021=)
c.2874A>G (p.Thr958=)
n.483A>G
c.2934A>G (p.Thr978=)
n.7283A>G
n.496A>G
n.1038A>G
c.2964A>G (p.Thr988=)
c.2877A>G (p.Thr959=)
c.1836A>G (p.Thr612=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032071T>GCA500371928KANSL1c.3066A>C (p.Thr1022=)
c.3063A>C (p.Thr1021=)
c.2874A>C (p.Thr958=)
n.483A>C
c.2934A>C (p.Thr978=)
n.7283A>C
n.496A>C
n.1038A>C
c.2964A>C (p.Thr988=)
c.2877A>C (p.Thr959=)
c.1836A>C (p.Thr612=)
17g.46032071T=CA2262110989KANSL1c.3066A= (p.Thr1022=)
c.3063A= (p.Thr1021=)
c.2874A= (p.Thr958=)
n.483A=
c.2934A= (p.Thr978=)
n.7283A=
n.496A=
n.1038A=
c.2964A= (p.Thr988=)
c.2877A= (p.Thr959=)
c.1836A= (p.Thr612=)
17g.46032072G>ACA8618392KANSL1c.3065C>T (p.Thr1022Ile)
c.3062C>T (p.Thr1021Ile)
c.2873C>T (p.Thr958Ile)
n.482C>T
c.2933C>T (p.Thr978Ile)
n.7282C>T
n.495C>T
n.1037C>T
c.2963C>T (p.Thr988Ile)
c.2876C>T (p.Thr959Ile)
c.1835C>T (p.Thr612Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032072G>CCA399986325KANSL1c.3065C>G (p.Thr1022Arg)
c.3062C>G (p.Thr1021Arg)
c.2873C>G (p.Thr958Arg)
n.482C>G
c.2933C>G (p.Thr978Arg)
n.7282C>G
n.495C>G
n.1037C>G
c.2963C>G (p.Thr988Arg)
c.2876C>G (p.Thr959Arg)
c.1835C>G (p.Thr612Arg)
17g.46032072G=CA2262110990KANSL1c.3065C= (p.Thr1022=)
c.3062C= (p.Thr1021=)
c.2873C= (p.Thr958=)
n.482C=
c.2933C= (p.Thr978=)
n.7282C=
n.495C=
n.1037C=
c.2963C= (p.Thr988=)
c.2876C= (p.Thr959=)
c.1835C= (p.Thr612=)
17g.46032072G>TCA399986324KANSL1c.3065C>A (p.Thr1022Lys)
c.3062C>A (p.Thr1021Lys)
c.2873C>A (p.Thr958Lys)
n.482C>A
c.2933C>A (p.Thr978Lys)
n.7282C>A
n.495C>A
n.1037C>A
c.2963C>A (p.Thr988Lys)
c.2876C>A (p.Thr959Lys)
c.1835C>A (p.Thr612Lys)
17g.46032073T>ACA399986329KANSL1c.3064A>T (p.Thr1022Ser)
c.3061A>T (p.Thr1021Ser)
c.2872A>T (p.Thr958Ser)
n.481A>T
c.2932A>T (p.Thr978Ser)
n.7281A>T
n.494A>T
n.1036A>T
c.2962A>T (p.Thr988Ser)
c.2875A>T (p.Thr959Ser)
c.1834A>T (p.Thr612Ser)
17g.46032073T>CCA399986330KANSL1c.3064A>G (p.Thr1022Ala)
c.3061A>G (p.Thr1021Ala)
c.2872A>G (p.Thr958Ala)
n.481A>G
c.2932A>G (p.Thr978Ala)
n.7281A>G
n.494A>G
n.1036A>G
c.2962A>G (p.Thr988Ala)
c.2875A>G (p.Thr959Ala)
c.1834A>G (p.Thr612Ala)
 ClinVar dbSNP gnomAD v4
17g.46032073T>GCA399986331KANSL1c.3064A>C (p.Thr1022Pro)
c.3061A>C (p.Thr1021Pro)
c.2872A>C (p.Thr958Pro)
n.481A>C
c.2932A>C (p.Thr978Pro)
n.7281A>C
n.494A>C
n.1036A>C
c.2962A>C (p.Thr988Pro)
c.2875A>C (p.Thr959Pro)
c.1834A>C (p.Thr612Pro)
17g.46032073T=CA2262110991KANSL1c.3064A= (p.Thr1022=)
c.3061A= (p.Thr1021=)
c.2872A= (p.Thr958=)
n.481A=
c.2932A= (p.Thr978=)
n.7281A=
n.494A=
n.1036A=
c.2962A= (p.Thr988=)
c.2875A= (p.Thr959=)
c.1834A= (p.Thr612=)
17g.46032074G>ACA500371929KANSL1c.3063C>T (p.Ser1021=)
c.3060C>T (p.Ser1020=)
c.2871C>T (p.Ser957=)
n.480C>T
c.2931C>T (p.Ser977=)
n.7280C>T
n.493C>T
n.1035C>T
c.2961C>T (p.Ser987=)
c.2874C>T (p.Ser958=)
c.1833C>T (p.Ser611=)
 ClinVar gnomAD v4
17g.46032074G>CCA500371930KANSL1c.3063C>G (p.Ser1021=)
c.3060C>G (p.Ser1020=)
c.2871C>G (p.Ser957=)
n.480C>G
c.2931C>G (p.Ser977=)
n.7280C>G
n.493C>G
n.1035C>G
c.2961C>G (p.Ser987=)
c.2874C>G (p.Ser958=)
c.1833C>G (p.Ser611=)
17g.46032074G>TCA500371931KANSL1c.3063C>A (p.Ser1021=)
c.3060C>A (p.Ser1020=)
c.2871C>A (p.Ser957=)
n.480C>A
c.2931C>A (p.Ser977=)
n.7280C>A
n.493C>A
n.1035C>A
c.2961C>A (p.Ser987=)
c.2874C>A (p.Ser958=)
c.1833C>A (p.Ser611=)
17g.46032075G>ACA399986334KANSL1c.3062C>T (p.Ser1021Phe)
c.3059C>T (p.Ser1020Phe)
c.2870C>T (p.Ser957Phe)
n.479C>T
c.2930C>T (p.Ser977Phe)
n.7279C>T
n.492C>T
n.1034C>T
c.2960C>T (p.Ser987Phe)
c.2873C>T (p.Ser958Phe)
c.1832C>T (p.Ser611Phe)
17g.46032075G>CCA8618393KANSL1c.3062C>G (p.Ser1021Cys)
c.3059C>G (p.Ser1020Cys)
c.2870C>G (p.Ser957Cys)
n.479C>G
c.2930C>G (p.Ser977Cys)
n.7279C>G
n.492C>G
n.1034C>G
c.2960C>G (p.Ser987Cys)
c.2873C>G (p.Ser958Cys)
c.1832C>G (p.Ser611Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032075G=CA2262110992KANSL1c.3062C= (p.Ser1021=)
c.3059C= (p.Ser1020=)
c.2870C= (p.Ser957=)
n.479C=
c.2930C= (p.Ser977=)
n.7279C=
n.492C=
n.1034C=
c.2960C= (p.Ser987=)
c.2873C= (p.Ser958=)
c.1832C= (p.Ser611=)
17g.46032075G>TCA399986336KANSL1c.3062C>A (p.Ser1021Tyr)
c.3059C>A (p.Ser1020Tyr)
c.2870C>A (p.Ser957Tyr)
n.479C>A
c.2930C>A (p.Ser977Tyr)
n.7279C>A
n.492C>A
n.1034C>A
c.2960C>A (p.Ser987Tyr)
c.2873C>A (p.Ser958Tyr)
c.1832C>A (p.Ser611Tyr)
17g.46032076A>CCA399986338KANSL1c.3061T>G (p.Ser1021Ala)
c.3058T>G (p.Ser1020Ala)
c.2869T>G (p.Ser957Ala)
n.478T>G
c.2929T>G (p.Ser977Ala)
n.7278T>G
n.491T>G
n.1033T>G
c.2959T>G (p.Ser987Ala)
c.2872T>G (p.Ser958Ala)
c.1831T>G (p.Ser611Ala)
17g.46032076A>GCA399986340KANSL1c.3061T>C (p.Ser1021Pro)
c.3058T>C (p.Ser1020Pro)
c.2869T>C (p.Ser957Pro)
n.478T>C
c.2929T>C (p.Ser977Pro)
n.7278T>C
n.491T>C
n.1033T>C
c.2959T>C (p.Ser987Pro)
c.2872T>C (p.Ser958Pro)
c.1831T>C (p.Ser611Pro)
17g.46032076A>TCA399986342KANSL1c.3061T>A (p.Ser1021Thr)
c.3058T>A (p.Ser1020Thr)
c.2869T>A (p.Ser957Thr)
n.478T>A
c.2929T>A (p.Ser977Thr)
n.7278T>A
n.491T>A
n.1033T>A
c.2959T>A (p.Ser987Thr)
c.2872T>A (p.Ser958Thr)
c.1831T>A (p.Ser611Thr)
17g.46032077A>CCA399986344KANSL1c.3060T>G (p.Cys1020Trp)
c.3057T>G (p.Cys1019Trp)
c.2868T>G (p.Cys956Trp)
n.477T>G
c.2928T>G (p.Cys976Trp)
n.7277T>G
n.490T>G
n.1032T>G
c.2958T>G (p.Cys986Trp)
c.2871T>G (p.Cys957Trp)
c.1830T>G (p.Cys610Trp)
17g.46032077A>GCA500371932KANSL1c.3060T>C (p.Cys1020=)
c.3057T>C (p.Cys1019=)
c.2868T>C (p.Cys956=)
n.477T>C
c.2928T>C (p.Cys976=)
n.7277T>C
n.490T>C
n.1032T>C
c.2958T>C (p.Cys986=)
c.2871T>C (p.Cys957=)
c.1830T>C (p.Cys610=)
17g.46032077A>TCA399986345KANSL1c.3060T>A (p.Cys1020Ter)
c.3057T>A (p.Cys1019Ter)
c.2868T>A (p.Cys956Ter)
n.477T>A
c.2928T>A (p.Cys976Ter)
n.7277T>A
n.490T>A
n.1032T>A
c.2958T>A (p.Cys986Ter)
c.2871T>A (p.Cys957Ter)
c.1830T>A (p.Cys610Ter)
17g.46032078C>ACA399986349KANSL1c.3059G>T (p.Cys1020Phe)
c.3056G>T (p.Cys1019Phe)
c.2867G>T (p.Cys956Phe)
n.476G>T
c.2927G>T (p.Cys976Phe)
n.7276G>T
n.489G>T
n.1031G>T
c.2957G>T (p.Cys986Phe)
c.2870G>T (p.Cys957Phe)
c.1829G>T (p.Cys610Phe)
17g.46032078C>GCA399986351KANSL1c.3059G>C (p.Cys1020Ser)
c.3056G>C (p.Cys1019Ser)
c.2867G>C (p.Cys956Ser)
n.476G>C
c.2927G>C (p.Cys976Ser)
n.7276G>C
n.489G>C
n.1031G>C
c.2957G>C (p.Cys986Ser)
c.2870G>C (p.Cys957Ser)
c.1829G>C (p.Cys610Ser)
17g.46032078C>TCA399986348KANSL1c.3059G>A (p.Cys1020Tyr)
c.3056G>A (p.Cys1019Tyr)
c.2867G>A (p.Cys956Tyr)
n.476G>A
c.2927G>A (p.Cys976Tyr)
n.7276G>A
n.489G>A
n.1031G>A
c.2957G>A (p.Cys986Tyr)
c.2870G>A (p.Cys957Tyr)
c.1829G>A (p.Cys610Tyr)
17g.46032079A>CCA399986353KANSL1c.3058T>G (p.Cys1020Gly)
c.3055T>G (p.Cys1019Gly)
c.2866T>G (p.Cys956Gly)
n.475T>G
c.2926T>G (p.Cys976Gly)
n.7275T>G
n.488T>G
n.1030T>G
c.2956T>G (p.Cys986Gly)
c.2869T>G (p.Cys957Gly)
c.1828T>G (p.Cys610Gly)
17g.46032079A>GCA399986355KANSL1c.3058T>C (p.Cys1020Arg)
c.3055T>C (p.Cys1019Arg)
c.2866T>C (p.Cys956Arg)
n.475T>C
c.2926T>C (p.Cys976Arg)
n.7275T>C
n.488T>C
n.1030T>C
c.2956T>C (p.Cys986Arg)
c.2869T>C (p.Cys957Arg)
c.1828T>C (p.Cys610Arg)
17g.46032079A>TCA399986357KANSL1c.3058T>A (p.Cys1020Ser)
c.3055T>A (p.Cys1019Ser)
c.2866T>A (p.Cys956Ser)
n.475T>A
c.2926T>A (p.Cys976Ser)
n.7275T>A
n.488T>A
n.1030T>A
c.2956T>A (p.Cys986Ser)
c.2869T>A (p.Cys957Ser)
c.1828T>A (p.Cys610Ser)
17g.46032080A=CA2262110993KANSL1c.3057T= (p.Arg1019=)
c.3054T= (p.Arg1018=)
c.2865T= (p.Arg955=)
n.474T=
c.2925T= (p.Arg975=)
n.7274T=
n.487T=
n.1029T=
c.2955T= (p.Arg985=)
c.2868T= (p.Arg956=)
c.1827T= (p.Arg609=)
17g.46032080A>CCA500371935KANSL1c.3057T>G (p.Arg1019=)
c.3054T>G (p.Arg1018=)
c.2865T>G (p.Arg955=)
n.474T>G
c.2925T>G (p.Arg975=)
n.7274T>G
n.487T>G
n.1029T>G
c.2955T>G (p.Arg985=)
c.2868T>G (p.Arg956=)
c.1827T>G (p.Arg609=)
 COSMIC
17g.46032080A>GCA500371934KANSL1c.3057T>C (p.Arg1019=)
c.3054T>C (p.Arg1018=)
c.2865T>C (p.Arg955=)
n.474T>C
c.2925T>C (p.Arg975=)
n.7274T>C
n.487T>C
n.1029T>C
c.2955T>C (p.Arg985=)
c.2868T>C (p.Arg956=)
c.1827T>C (p.Arg609=)
 ClinVar dbSNP gnomAD v4
17g.46032080A>TCA500371933KANSL1c.3057T>A (p.Arg1019=)
c.3054T>A (p.Arg1018=)
c.2865T>A (p.Arg955=)
n.474T>A
c.2925T>A (p.Arg975=)
n.7274T>A
n.487T>A
n.1029T>A
c.2955T>A (p.Arg985=)
c.2868T>A (p.Arg956=)
c.1827T>A (p.Arg609=)
17g.46032081C>ACA399986358KANSL1c.3056G>T (p.Arg1019Leu)
c.3053G>T (p.Arg1018Leu)
c.2864G>T (p.Arg955Leu)
n.473G>T
c.2924G>T (p.Arg975Leu)
n.7273G>T
n.486G>T
n.1028G>T
c.2954G>T (p.Arg985Leu)
c.2867G>T (p.Arg956Leu)
c.1826G>T (p.Arg609Leu)
17g.46032081C=CA2262110994KANSL1c.3056G= (p.Arg1019=)
c.3053G= (p.Arg1018=)
c.2864G= (p.Arg955=)
n.473G=
c.2924G= (p.Arg975=)
n.7273G=
n.486G=
n.1028G=
c.2954G= (p.Arg985=)
c.2867G= (p.Arg956=)
c.1826G= (p.Arg609=)
17g.46032081C>GCA399986360KANSL1c.3056G>C (p.Arg1019Pro)
c.3053G>C (p.Arg1018Pro)
c.2864G>C (p.Arg955Pro)
n.473G>C
c.2924G>C (p.Arg975Pro)
n.7273G>C
n.486G>C
n.1028G>C
c.2954G>C (p.Arg985Pro)
c.2867G>C (p.Arg956Pro)
c.1826G>C (p.Arg609Pro)
17g.46032081C>TCA315227KANSL1c.3056G>A (p.Arg1019His)
c.3053G>A (p.Arg1018His)
c.2864G>A (p.Arg955His)
n.473G>A
c.2924G>A (p.Arg975His)
n.7273G>A
n.486G>A
n.1028G>A
c.2954G>A (p.Arg985His)
c.2867G>A (p.Arg956His)
c.1826G>A (p.Arg609His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032082G>ACA399986363KANSL1c.3055C>T (p.Arg1019Cys)
c.3052C>T (p.Arg1018Cys)
c.2863C>T (p.Arg955Cys)
n.472C>T
c.2923C>T (p.Arg975Cys)
n.7272C>T
n.485C>T
n.1027C>T
c.2953C>T (p.Arg985Cys)
c.2866C>T (p.Arg956Cys)
c.1825C>T (p.Arg609Cys)
 dbSNP gnomAD v2 gnomAD v4
17g.46032082G>CCA399986365KANSL1c.3055C>G (p.Arg1019Gly)
c.3052C>G (p.Arg1018Gly)
c.2863C>G (p.Arg955Gly)
n.472C>G
c.2923C>G (p.Arg975Gly)
n.7272C>G
n.485C>G
n.1027C>G
c.2953C>G (p.Arg985Gly)
c.2866C>G (p.Arg956Gly)
c.1825C>G (p.Arg609Gly)
17g.46032082G=CA2262110995KANSL1c.3055C= (p.Arg1019=)
c.3052C= (p.Arg1018=)
c.2863C= (p.Arg955=)
n.472C=
c.2923C= (p.Arg975=)
n.7272C=
n.485C=
n.1027C=
c.2953C= (p.Arg985=)
c.2866C= (p.Arg956=)
c.1825C= (p.Arg609=)
17g.46032082G>TCA399986367KANSL1c.3055C>A (p.Arg1019Ser)
c.3052C>A (p.Arg1018Ser)
c.2863C>A (p.Arg955Ser)
n.472C>A
c.2923C>A (p.Arg975Ser)
n.7272C>A
n.485C>A
n.1027C>A
c.2953C>A (p.Arg985Ser)
c.2866C>A (p.Arg956Ser)
c.1825C>A (p.Arg609Ser)
17g.46032083G>ACA500371937KANSL1c.3054C>T (p.Thr1018=)
c.3051C>T (p.Thr1017=)
c.2862C>T (p.Thr954=)
n.471C>T
c.2922C>T (p.Thr974=)
n.7271C>T
n.484C>T
n.1026C>T
c.2952C>T (p.Thr984=)
c.2865C>T (p.Thr955=)
c.1824C>T (p.Thr608=)
 ClinVar dbSNP
17g.46032083G>CCA500371938KANSL1c.3054C>G (p.Thr1018=)
c.3051C>G (p.Thr1017=)
c.2862C>G (p.Thr954=)
n.471C>G
c.2922C>G (p.Thr974=)
n.7271C>G
n.484C>G
n.1026C>G
c.2952C>G (p.Thr984=)
c.2865C>G (p.Thr955=)
c.1824C>G (p.Thr608=)
17g.46032083G=CA2262110996KANSL1c.3054C= (p.Thr1018=)
c.3051C= (p.Thr1017=)
c.2862C= (p.Thr954=)
n.471C=
c.2922C= (p.Thr974=)
n.7271C=
n.484C=
n.1026C=
c.2952C= (p.Thr984=)
c.2865C= (p.Thr955=)
c.1824C= (p.Thr608=)
17g.46032083G>TCA500371936KANSL1c.3054C>A (p.Thr1018=)
c.3051C>A (p.Thr1017=)
c.2862C>A (p.Thr954=)
n.471C>A
c.2922C>A (p.Thr974=)
n.7271C>A
n.484C>A
n.1026C>A
c.2952C>A (p.Thr984=)
c.2865C>A (p.Thr955=)
c.1824C>A (p.Thr608=)
17g.46032084G>ACA8618394KANSL1c.3053C>T (p.Thr1018Ile)
c.3050C>T (p.Thr1017Ile)
c.2861C>T (p.Thr954Ile)
n.470C>T
c.2921C>T (p.Thr974Ile)
n.7270C>T
n.483C>T
n.1025C>T
c.2951C>T (p.Thr984Ile)
c.2864C>T (p.Thr955Ile)
c.1823C>T (p.Thr608Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032084G>CCA399986369KANSL1c.3053C>G (p.Thr1018Ser)
c.3050C>G (p.Thr1017Ser)
c.2861C>G (p.Thr954Ser)
n.470C>G
c.2921C>G (p.Thr974Ser)
n.7270C>G
n.483C>G
n.1025C>G
c.2951C>G (p.Thr984Ser)
c.2864C>G (p.Thr955Ser)
c.1823C>G (p.Thr608Ser)
17g.46032084G=CA2262110997KANSL1c.3053C= (p.Thr1018=)
c.3050C= (p.Thr1017=)
c.2861C= (p.Thr954=)
n.470C=
c.2921C= (p.Thr974=)
n.7270C=
n.483C=
n.1025C=
c.2951C= (p.Thr984=)
c.2864C= (p.Thr955=)
c.1823C= (p.Thr608=)
17g.46032084G>TCA399986371KANSL1c.3053C>A (p.Thr1018Asn)
c.3050C>A (p.Thr1017Asn)
c.2861C>A (p.Thr954Asn)
n.470C>A
c.2921C>A (p.Thr974Asn)
n.7270C>A
n.483C>A
n.1025C>A
c.2951C>A (p.Thr984Asn)
c.2864C>A (p.Thr955Asn)
c.1823C>A (p.Thr608Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.46032085T>ACA399986377KANSL1c.3052A>T (p.Thr1018Ser)
c.3049A>T (p.Thr1017Ser)
c.2860A>T (p.Thr954Ser)
n.469A>T
c.2920A>T (p.Thr974Ser)
n.7269A>T
n.482A>T
n.1024A>T
c.2950A>T (p.Thr984Ser)
c.2863A>T (p.Thr955Ser)
c.1822A>T (p.Thr608Ser)
17g.46032085T>CCA399986373KANSL1c.3052A>G (p.Thr1018Ala)
c.3049A>G (p.Thr1017Ala)
c.2860A>G (p.Thr954Ala)
n.469A>G
c.2920A>G (p.Thr974Ala)
n.7269A>G
n.482A>G
n.1024A>G
c.2950A>G (p.Thr984Ala)
c.2863A>G (p.Thr955Ala)
c.1822A>G (p.Thr608Ala)
 gnomAD v4 COSMIC
17g.46032085T>GCA399986375KANSL1c.3052A>C (p.Thr1018Pro)
c.3049A>C (p.Thr1017Pro)
c.2860A>C (p.Thr954Pro)
n.469A>C
c.2920A>C (p.Thr974Pro)
n.7269A>C
n.482A>C
n.1024A>C
c.2950A>C (p.Thr984Pro)
c.2863A>C (p.Thr955Pro)
c.1822A>C (p.Thr608Pro)
17g.46032086A>CCA399986379KANSL1c.3051T>G (p.Asp1017Glu)
c.3048T>G (p.Asp1016Glu)
c.2859T>G (p.Asp953Glu)
n.468T>G
c.2919T>G (p.Asp973Glu)
n.7268T>G
n.481T>G
n.1023T>G
c.2949T>G (p.Asp983Glu)
c.2862T>G (p.Asp954Glu)
c.1821T>G (p.Asp607Glu)
17g.46032086A>GCA500371939KANSL1c.3051T>C (p.Asp1017=)
c.3048T>C (p.Asp1016=)
c.2859T>C (p.Asp953=)
n.468T>C
c.2919T>C (p.Asp973=)
n.7268T>C
n.481T>C
n.1023T>C
c.2949T>C (p.Asp983=)
c.2862T>C (p.Asp954=)
c.1821T>C (p.Asp607=)
 gnomAD v4
17g.46032086A>TCA399986381KANSL1c.3051T>A (p.Asp1017Glu)
c.3048T>A (p.Asp1016Glu)
c.2859T>A (p.Asp953Glu)
n.468T>A
c.2919T>A (p.Asp973Glu)
n.7268T>A
n.481T>A
n.1023T>A
c.2949T>A (p.Asp983Glu)
c.2862T>A (p.Asp954Glu)
c.1821T>A (p.Asp607Glu)
17g.46032087T>ACA399986382KANSL1c.3050A>T (p.Asp1017Val)
c.3047A>T (p.Asp1016Val)
c.2858A>T (p.Asp953Val)
n.467A>T
c.2918A>T (p.Asp973Val)
n.7267A>T
n.480A>T
n.1022A>T
c.2948A>T (p.Asp983Val)
c.2861A>T (p.Asp954Val)
c.1820A>T (p.Asp607Val)
17g.46032087T>CCA399986384KANSL1c.3050A>G (p.Asp1017Gly)
c.3047A>G (p.Asp1016Gly)
c.2858A>G (p.Asp953Gly)
n.467A>G
c.2918A>G (p.Asp973Gly)
n.7267A>G
n.480A>G
n.1022A>G
c.2948A>G (p.Asp983Gly)
c.2861A>G (p.Asp954Gly)
c.1820A>G (p.Asp607Gly)
 gnomAD v4
17g.46032087T>GCA399986385KANSL1c.3050A>C (p.Asp1017Ala)
c.3047A>C (p.Asp1016Ala)
c.2858A>C (p.Asp953Ala)
n.467A>C
c.2918A>C (p.Asp973Ala)
n.7267A>C
n.480A>C
n.1022A>C
c.2948A>C (p.Asp983Ala)
c.2861A>C (p.Asp954Ala)
c.1820A>C (p.Asp607Ala)
 ClinVar dbSNP
17g.46032087T=CA2262110998KANSL1c.3050A= (p.Asp1017=)
c.3047A= (p.Asp1016=)
c.2858A= (p.Asp953=)
n.467A=
c.2918A= (p.Asp973=)
n.7267A=
n.480A=
n.1022A=
c.2948A= (p.Asp983=)
c.2861A= (p.Asp954=)
c.1820A= (p.Asp607=)
17g.46032088C>ACA399986387KANSL1c.3049G>T (p.Asp1017Tyr)
c.3046G>T (p.Asp1016Tyr)
c.2857G>T (p.Asp953Tyr)
n.466G>T
c.2917G>T (p.Asp973Tyr)
n.7266G>T
n.479G>T
n.1021G>T
c.2947G>T (p.Asp983Tyr)
c.2860G>T (p.Asp954Tyr)
c.1819G>T (p.Asp607Tyr)
17g.46032088C>GCA399986389KANSL1c.3049G>C (p.Asp1017His)
c.3046G>C (p.Asp1016His)
c.2857G>C (p.Asp953His)
n.466G>C
c.2917G>C (p.Asp973His)
n.7266G>C
n.479G>C
n.1021G>C
c.2947G>C (p.Asp983His)
c.2860G>C (p.Asp954His)
c.1819G>C (p.Asp607His)
17g.46032088C>TCA399986391KANSL1c.3049G>A (p.Asp1017Asn)
c.3046G>A (p.Asp1016Asn)
c.2857G>A (p.Asp953Asn)
n.466G>A
c.2917G>A (p.Asp973Asn)
n.7266G>A
n.479G>A
n.1021G>A
c.2947G>A (p.Asp983Asn)
c.2860G>A (p.Asp954Asn)
c.1819G>A (p.Asp607Asn)
17g.46032089dupCA1139665659KANSL1c.3049dup (p.Asp1017GlyfsTer13)
c.3046dup (p.Asp1016GlyfsTer13)
c.2857dup (p.Asp953GlyfsTer13)
n.466dup
c.2917dup (p.Asp973GlyfsTer13)
n.7266dup
n.479dup
n.1021dup
c.2947dup (p.Asp983GlyfsTer13)
c.2860dup (p.Asp954GlyfsTer13)
c.1819dup (p.Asp607GlyfsTer13)
 ClinVar dbSNP
17g.46032089C>ACA399986393KANSL1c.3048G>T (p.Glu1016Asp)
c.3045G>T (p.Glu1015Asp)
c.2856G>T (p.Glu952Asp)
n.465G>T
c.2916G>T (p.Glu972Asp)
n.7265G>T
n.478G>T
n.1020G>T
c.2946G>T (p.Glu982Asp)
c.2859G>T (p.Glu953Asp)
c.1818G>T (p.Glu606Asp)
17g.46032089C>GCA399986396KANSL1c.3048G>C (p.Glu1016Asp)
c.3045G>C (p.Glu1015Asp)
c.2856G>C (p.Glu952Asp)
n.465G>C
c.2916G>C (p.Glu972Asp)
n.7265G>C
n.478G>C
n.1020G>C
c.2946G>C (p.Glu982Asp)
c.2859G>C (p.Glu953Asp)
c.1818G>C (p.Glu606Asp)
17g.46032089C>TCA500371940KANSL1c.3048G>A (p.Glu1016=)
c.3045G>A (p.Glu1015=)
c.2856G>A (p.Glu952=)
n.465G>A
c.2916G>A (p.Glu972=)
n.7265G>A
n.478G>A
n.1020G>A
c.2946G>A (p.Glu982=)
c.2859G>A (p.Glu953=)
c.1818G>A (p.Glu606=)
 dbSNP gnomAD v4
17g.46032090T>ACA399986398KANSL1c.3047A>T (p.Glu1016Val)
c.3044A>T (p.Glu1015Val)
c.2855A>T (p.Glu952Val)
n.464A>T
c.2915A>T (p.Glu972Val)
n.7264A>T
n.477A>T
n.1019A>T
c.2945A>T (p.Glu982Val)
c.2858A>T (p.Glu953Val)
c.1817A>T (p.Glu606Val)
17g.46032090T>CCA399986400KANSL1c.3047A>G (p.Glu1016Gly)
c.3044A>G (p.Glu1015Gly)
c.2855A>G (p.Glu952Gly)
n.464A>G
c.2915A>G (p.Glu972Gly)
n.7264A>G
n.477A>G
n.1019A>G
c.2945A>G (p.Glu982Gly)
c.2858A>G (p.Glu953Gly)
c.1817A>G (p.Glu606Gly)
17g.46032090T>GCA399986402KANSL1c.3047A>C (p.Glu1016Ala)
c.3044A>C (p.Glu1015Ala)
c.2855A>C (p.Glu952Ala)
n.464A>C
c.2915A>C (p.Glu972Ala)
n.7264A>C
n.477A>C
n.1019A>C
c.2945A>C (p.Glu982Ala)
c.2858A>C (p.Glu953Ala)
c.1817A>C (p.Glu606Ala)
17g.46032091C>ACA399986406KANSL1c.3046G>T (p.Glu1016Ter)
c.3043G>T (p.Glu1015Ter)
c.2854G>T (p.Glu952Ter)
n.463G>T
c.2914G>T (p.Glu972Ter)
n.7263G>T
n.476G>T
n.1018G>T
c.2944G>T (p.Glu982Ter)
c.2857G>T (p.Glu953Ter)
c.1816G>T (p.Glu606Ter)
17g.46032091C>GCA399986407KANSL1c.3046G>C (p.Glu1016Gln)
c.3043G>C (p.Glu1015Gln)
c.2854G>C (p.Glu952Gln)
n.463G>C
c.2914G>C (p.Glu972Gln)
n.7263G>C
n.476G>C
n.1018G>C
c.2944G>C (p.Glu982Gln)
c.2857G>C (p.Glu953Gln)
c.1816G>C (p.Glu606Gln)
17g.46032091C>TCA399986404KANSL1c.3046G>A (p.Glu1016Lys)
c.3043G>A (p.Glu1015Lys)
c.2854G>A (p.Glu952Lys)
n.463G>A
c.2914G>A (p.Glu972Lys)
n.7263G>A
n.476G>A
n.1018G>A
c.2944G>A (p.Glu982Lys)
c.2857G>A (p.Glu953Lys)
c.1816G>A (p.Glu606Lys)
17g.46032092A>CCA399986411KANSL1c.3045T>G (p.Ser1015Arg)
c.3042T>G (p.Ser1014Arg)
c.2853T>G (p.Ser951Arg)
n.462T>G
c.2913T>G (p.Ser971Arg)
n.7262T>G
n.475T>G
n.1017T>G
c.2943T>G (p.Ser981Arg)
c.2856T>G (p.Ser952Arg)
c.1815T>G (p.Ser605Arg)
17g.46032092A>GCA500371941KANSL1c.3045T>C (p.Ser1015=)
c.3042T>C (p.Ser1014=)
c.2853T>C (p.Ser951=)
n.462T>C
c.2913T>C (p.Ser971=)
n.7262T>C
n.475T>C
n.1017T>C
c.2943T>C (p.Ser981=)
c.2856T>C (p.Ser952=)
c.1815T>C (p.Ser605=)
17g.46032092A>TCA399986409KANSL1c.3045T>A (p.Ser1015Arg)
c.3042T>A (p.Ser1014Arg)
c.2853T>A (p.Ser951Arg)
n.462T>A
c.2913T>A (p.Ser971Arg)
n.7262T>A
n.475T>A
n.1017T>A
c.2943T>A (p.Ser981Arg)
c.2856T>A (p.Ser952Arg)
c.1815T>A (p.Ser605Arg)
17g.46032093C>ACA399986413KANSL1c.3044G>T (p.Ser1015Ile)
c.3041G>T (p.Ser1014Ile)
c.2852G>T (p.Ser951Ile)
n.461G>T
c.2912G>T (p.Ser971Ile)
n.7261G>T
n.474G>T
n.1016G>T
c.2942G>T (p.Ser981Ile)
c.2855G>T (p.Ser952Ile)
c.1814G>T (p.Ser605Ile)
17g.46032093C=CA2262110999KANSL1c.3044G= (p.Ser1015=)
c.3041G= (p.Ser1014=)
c.2852G= (p.Ser951=)
n.461G=
c.2912G= (p.Ser971=)
n.7261G=
n.474G=
n.1016G=
c.2942G= (p.Ser981=)
c.2855G= (p.Ser952=)
c.1814G= (p.Ser605=)
17g.46032093C>GCA399986415KANSL1c.3044G>C (p.Ser1015Thr)
c.3041G>C (p.Ser1014Thr)
c.2852G>C (p.Ser951Thr)
n.461G>C
c.2912G>C (p.Ser971Thr)
n.7261G>C
n.474G>C
n.1016G>C
c.2942G>C (p.Ser981Thr)
c.2855G>C (p.Ser952Thr)
c.1814G>C (p.Ser605Thr)
17g.46032093C>TCA399986416KANSL1c.3044G>A (p.Ser1015Asn)
c.3041G>A (p.Ser1014Asn)
c.2852G>A (p.Ser951Asn)
n.461G>A
c.2912G>A (p.Ser971Asn)
n.7261G>A
n.474G>A
n.1016G>A
c.2942G>A (p.Ser981Asn)
c.2855G>A (p.Ser952Asn)
c.1814G>A (p.Ser605Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46032094T>ACA399986419KANSL1c.3043A>T (p.Ser1015Cys)
c.3040A>T (p.Ser1014Cys)
c.2851A>T (p.Ser951Cys)
n.460A>T
c.2911A>T (p.Ser971Cys)
n.7260A>T
n.473A>T
n.1015A>T
c.2941A>T (p.Ser981Cys)
c.2854A>T (p.Ser952Cys)
c.1813A>T (p.Ser605Cys)
17g.46032094T>CCA399986420KANSL1c.3043A>G (p.Ser1015Gly)
c.3040A>G (p.Ser1014Gly)
c.2851A>G (p.Ser951Gly)
n.460A>G
c.2911A>G (p.Ser971Gly)
n.7260A>G
n.473A>G
n.1015A>G
c.2941A>G (p.Ser981Gly)
c.2854A>G (p.Ser952Gly)
c.1813A>G (p.Ser605Gly)
 ClinVar dbSNP gnomAD v4
17g.46032094T>GCA399986422KANSL1c.3043A>C (p.Ser1015Arg)
c.3040A>C (p.Ser1014Arg)
c.2851A>C (p.Ser951Arg)
n.460A>C
c.2911A>C (p.Ser971Arg)
n.7260A>C
n.473A>C
n.1015A>C
c.2941A>C (p.Ser981Arg)
c.2854A>C (p.Ser952Arg)
c.1813A>C (p.Ser605Arg)
17g.46032094T=CA2262111000KANSL1c.3043A= (p.Ser1015=)
c.3040A= (p.Ser1014=)
c.2851A= (p.Ser951=)
n.460A=
c.2911A= (p.Ser971=)
n.7260A=
n.473A=
n.1015A=
c.2941A= (p.Ser981=)
c.2854A= (p.Ser952=)
c.1813A= (p.Ser605=)
17g.46032095G>ACA500371942KANSL1c.3042C>T (p.Ala1014=)
c.3039C>T (p.Ala1013=)
c.2850C>T (p.Ala950=)
n.459C>T
c.2910C>T (p.Ala970=)
n.7259C>T
n.472C>T
n.1014C>T
c.2940C>T (p.Ala980=)
c.2853C>T (p.Ala951=)
c.1812C>T (p.Ala604=)
17g.46032095G>CCA500371944KANSL1c.3042C>G (p.Ala1014=)
c.3039C>G (p.Ala1013=)
c.2850C>G (p.Ala950=)
n.459C>G
c.2910C>G (p.Ala970=)
n.7259C>G
n.472C>G
n.1014C>G
c.2940C>G (p.Ala980=)
c.2853C>G (p.Ala951=)
c.1812C>G (p.Ala604=)
17g.46032095G>TCA500371943KANSL1c.3042C>A (p.Ala1014=)
c.3039C>A (p.Ala1013=)
c.2850C>A (p.Ala950=)
n.459C>A
c.2910C>A (p.Ala970=)
n.7259C>A
n.472C>A
n.1014C>A
c.2940C>A (p.Ala980=)
c.2853C>A (p.Ala951=)
c.1812C>A (p.Ala604=)
17g.46032096G>ACA399986424KANSL1c.3041C>T (p.Ala1014Val)
c.3038C>T (p.Ala1013Val)
c.2849C>T (p.Ala950Val)
n.458C>T
c.2909C>T (p.Ala970Val)
n.7258C>T
n.471C>T
n.1013C>T
c.2939C>T (p.Ala980Val)
c.2852C>T (p.Ala951Val)
c.1811C>T (p.Ala604Val)
17g.46032096G>CCA399986426KANSL1c.3041C>G (p.Ala1014Gly)
c.3038C>G (p.Ala1013Gly)
c.2849C>G (p.Ala950Gly)
n.458C>G
c.2909C>G (p.Ala970Gly)
n.7258C>G
n.471C>G
n.1013C>G
c.2939C>G (p.Ala980Gly)
c.2852C>G (p.Ala951Gly)
c.1811C>G (p.Ala604Gly)
17g.46032096G>TCA399986427KANSL1c.3041C>A (p.Ala1014Asp)
c.3038C>A (p.Ala1013Asp)
c.2849C>A (p.Ala950Asp)
n.458C>A
c.2909C>A (p.Ala970Asp)
n.7258C>A
n.471C>A
n.1013C>A
c.2939C>A (p.Ala980Asp)
c.2852C>A (p.Ala951Asp)
c.1811C>A (p.Ala604Asp)
17g.46032098_46032107delCA658781636KANSL1c.3032_3041del (p.Arg1011ProfsTer?)
c.3029_3038del (p.Arg1010ProfsTer?)
c.2840_2849del (p.Arg947ProfsTer?)
n.449_458del
c.2900_2909del (p.Arg967ProfsTer?)
n.7249_7258del
n.462_471del
n.1004_1013del
c.2930_2939del (p.Arg977ProfsTer?)
c.2843_2852del (p.Arg948ProfsTer?)
c.1802_1811del (p.Arg601ProfsTer?)
17g.46032097C>ACA399986430KANSL1c.3040G>T (p.Ala1014Ser)
c.3037G>T (p.Ala1013Ser)
c.2848G>T (p.Ala950Ser)
n.457G>T
c.2908G>T (p.Ala970Ser)
n.7257G>T
n.470G>T
n.1012G>T
c.2938G>T (p.Ala980Ser)
c.2851G>T (p.Ala951Ser)
c.1810G>T (p.Ala604Ser)
17g.46032097C>GCA399986431KANSL1c.3040G>C (p.Ala1014Pro)
c.3037G>C (p.Ala1013Pro)
c.2848G>C (p.Ala950Pro)
n.457G>C
c.2908G>C (p.Ala970Pro)
n.7257G>C
n.470G>C
n.1012G>C
c.2938G>C (p.Ala980Pro)
c.2851G>C (p.Ala951Pro)
c.1810G>C (p.Ala604Pro)
17g.46032097C>TCA399986433KANSL1c.3040G>A (p.Ala1014Thr)
c.3037G>A (p.Ala1013Thr)
c.2848G>A (p.Ala950Thr)
n.457G>A
c.2908G>A (p.Ala970Thr)
n.7257G>A
n.470G>A
n.1012G>A
c.2938G>A (p.Ala980Thr)
c.2851G>A (p.Ala951Thr)
c.1810G>A (p.Ala604Thr)
17g.46032098T>ACA399986437KANSL1c.3039A>T (p.Leu1013Phe)
c.3036A>T (p.Leu1012Phe)
c.2847A>T (p.Leu949Phe)
n.456A>T
c.2907A>T (p.Leu969Phe)
n.7256A>T
n.469A>T
n.1011A>T
c.2937A>T (p.Leu979Phe)
c.2850A>T (p.Leu950Phe)
c.1809A>T (p.Leu603Phe)
 gnomAD v4
17g.46032098T>CCA500371945KANSL1c.3039A>G (p.Leu1013=)
c.3036A>G (p.Leu1012=)
c.2847A>G (p.Leu949=)
n.456A>G
c.2907A>G (p.Leu969=)
n.7256A>G
n.469A>G
n.1011A>G
c.2937A>G (p.Leu979=)
c.2850A>G (p.Leu950=)
c.1809A>G (p.Leu603=)
17g.46032098T>GCA399986435KANSL1c.3039A>C (p.Leu1013Phe)
c.3036A>C (p.Leu1012Phe)
c.2847A>C (p.Leu949Phe)
n.456A>C
c.2907A>C (p.Leu969Phe)
n.7256A>C
n.469A>C
n.1011A>C
c.2937A>C (p.Leu979Phe)
c.2850A>C (p.Leu950Phe)
c.1809A>C (p.Leu603Phe)
17g.46032099A=CA2262111001KANSL1c.3038T= (p.Leu1013=)
c.3035T= (p.Leu1012=)
c.2846T= (p.Leu949=)
n.455T=
c.2906T= (p.Leu969=)
n.7255T=
n.468T=
n.1010T=
c.2936T= (p.Leu979=)
c.2849T= (p.Leu950=)
c.1808T= (p.Leu603=)
17g.46032099A>CCA399986439KANSL1c.3038T>G (p.Leu1013Ter)
c.3035T>G (p.Leu1012Ter)
c.2846T>G (p.Leu949Ter)
n.455T>G
c.2906T>G (p.Leu969Ter)
n.7255T>G
n.468T>G
n.1010T>G
c.2936T>G (p.Leu979Ter)
c.2849T>G (p.Leu950Ter)
c.1808T>G (p.Leu603Ter)
17g.46032099A>GCA8618395KANSL1c.3038T>C (p.Leu1013Ser)
c.3035T>C (p.Leu1012Ser)
c.2846T>C (p.Leu949Ser)
n.455T>C
c.2906T>C (p.Leu969Ser)
n.7255T>C
n.468T>C
n.1010T>C
c.2936T>C (p.Leu979Ser)
c.2849T>C (p.Leu950Ser)
c.1808T>C (p.Leu603Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032099A>TCA399986442KANSL1c.3038T>A (p.Leu1013Ter)
c.3035T>A (p.Leu1012Ter)
c.2846T>A (p.Leu949Ter)
n.455T>A
c.2906T>A (p.Leu969Ter)
n.7255T>A
n.468T>A
n.1010T>A
c.2936T>A (p.Leu979Ter)
c.2849T>A (p.Leu950Ter)
c.1808T>A (p.Leu603Ter)
17g.46032100A>CCA399986443KANSL1c.3037T>G (p.Leu1013Val)
c.3034T>G (p.Leu1012Val)
c.2845T>G (p.Leu949Val)
n.454T>G
c.2905T>G (p.Leu969Val)
n.7254T>G
n.467T>G
n.1009T>G
c.2935T>G (p.Leu979Val)
c.2848T>G (p.Leu950Val)
c.1807T>G (p.Leu603Val)
17g.46032100A>GCA500371946KANSL1c.3037T>C (p.Leu1013=)
c.3034T>C (p.Leu1012=)
c.2845T>C (p.Leu949=)
n.454T>C
c.2905T>C (p.Leu969=)
n.7254T>C
n.467T>C
n.1009T>C
c.2935T>C (p.Leu979=)
c.2848T>C (p.Leu950=)
c.1807T>C (p.Leu603=)
17g.46032100A>TCA399986445KANSL1c.3037T>A (p.Leu1013Ile)
c.3034T>A (p.Leu1012Ile)
c.2845T>A (p.Leu949Ile)
n.454T>A
c.2905T>A (p.Leu969Ile)
n.7254T>A
n.467T>A
n.1009T>A
c.2935T>A (p.Leu979Ile)
c.2848T>A (p.Leu950Ile)
c.1807T>A (p.Leu603Ile)
17g.46032101G>ACA500371947KANSL1c.3036C>T (p.His1012=)
c.3033C>T (p.His1011=)
c.2844C>T (p.His948=)
n.453C>T
c.2904C>T (p.His968=)
n.7253C>T
n.466C>T
n.1008C>T
c.2934C>T (p.His978=)
c.2847C>T (p.His949=)
c.1806C>T (p.His602=)
17g.46032101G>CCA399986448KANSL1c.3036C>G (p.His1012Gln)
c.3033C>G (p.His1011Gln)
c.2844C>G (p.His948Gln)
n.453C>G
c.2904C>G (p.His968Gln)
n.7253C>G
n.466C>G
n.1008C>G
c.2934C>G (p.His978Gln)
c.2847C>G (p.His949Gln)
c.1806C>G (p.His602Gln)
17g.46032101G>TCA399986449KANSL1c.3036C>A (p.His1012Gln)
c.3033C>A (p.His1011Gln)
c.2844C>A (p.His948Gln)
n.453C>A
c.2904C>A (p.His968Gln)
n.7253C>A
n.466C>A
n.1008C>A
c.2934C>A (p.His978Gln)
c.2847C>A (p.His949Gln)
c.1806C>A (p.His602Gln)
17g.46032102T>ACA399986451KANSL1c.3035A>T (p.His1012Leu)
c.3032A>T (p.His1011Leu)
c.2843A>T (p.His948Leu)
n.452A>T
c.2903A>T (p.His968Leu)
n.7252A>T
n.465A>T
n.1007A>T
c.2933A>T (p.His978Leu)
c.2846A>T (p.His949Leu)
c.1805A>T (p.His602Leu)
17g.46032102T>CCA16607297KANSL1c.3035A>G (p.His1012Arg)
c.3032A>G (p.His1011Arg)
c.2843A>G (p.His948Arg)
n.452A>G
c.2903A>G (p.His968Arg)
n.7252A>G
n.465A>G
n.1007A>G
c.2933A>G (p.His978Arg)
c.2846A>G (p.His949Arg)
c.1805A>G (p.His602Arg)
 ClinVar dbSNP
17g.46032102T>GCA399986453KANSL1c.3035A>C (p.His1012Pro)
c.3032A>C (p.His1011Pro)
c.2843A>C (p.His948Pro)
n.452A>C
c.2903A>C (p.His968Pro)
n.7252A>C
n.465A>C
n.1007A>C
c.2933A>C (p.His978Pro)
c.2846A>C (p.His949Pro)
c.1805A>C (p.His602Pro)
17g.46032102T=CA2262111002KANSL1c.3035A= (p.His1012=)
c.3032A= (p.His1011=)
c.2843A= (p.His948=)
n.452A=
c.2903A= (p.His968=)
n.7252A=
n.465A=
n.1007A=
c.2933A= (p.His978=)
c.2846A= (p.His949=)
c.1805A= (p.His602=)
17g.46032103G>ACA399986455KANSL1c.3034C>T (p.His1012Tyr)
c.3031C>T (p.His1011Tyr)
c.2842C>T (p.His948Tyr)
n.451C>T
c.2902C>T (p.His968Tyr)
n.7251C>T
n.464C>T
n.1006C>T
c.2932C>T (p.His978Tyr)
c.2845C>T (p.His949Tyr)
c.1804C>T (p.His602Tyr)
17g.46032103G>CCA399986457KANSL1c.3034C>G (p.His1012Asp)
c.3031C>G (p.His1011Asp)
c.2842C>G (p.His948Asp)
n.451C>G
c.2902C>G (p.His968Asp)
n.7251C>G
n.464C>G
n.1006C>G
c.2932C>G (p.His978Asp)
c.2845C>G (p.His949Asp)
c.1804C>G (p.His602Asp)
17g.46032103G>TCA399986458KANSL1c.3034C>A (p.His1012Asn)
c.3031C>A (p.His1011Asn)
c.2842C>A (p.His948Asn)
n.451C>A
c.2902C>A (p.His968Asn)
n.7251C>A
n.464C>A
n.1006C>A
c.2932C>A (p.His978Asn)
c.2845C>A (p.His949Asn)
c.1804C>A (p.His602Asn)
17g.46032104T>ACA500371949KANSL1c.3033A>T (p.Arg1011=)
c.3030A>T (p.Arg1010=)
c.2841A>T (p.Arg947=)
n.450A>T
c.2901A>T (p.Arg967=)
n.7250A>T
n.463A>T
n.1005A>T
c.2931A>T (p.Arg977=)
c.2844A>T (p.Arg948=)
c.1803A>T (p.Arg601=)
17g.46032104T>CCA500371950KANSL1c.3033A>G (p.Arg1011=)
c.3030A>G (p.Arg1010=)
c.2841A>G (p.Arg947=)
n.450A>G
c.2901A>G (p.Arg967=)
n.7250A>G
n.463A>G
n.1005A>G
c.2931A>G (p.Arg977=)
c.2844A>G (p.Arg948=)
c.1803A>G (p.Arg601=)
17g.46032104T>GCA500371948KANSL1c.3033A>C (p.Arg1011=)
c.3030A>C (p.Arg1010=)
c.2841A>C (p.Arg947=)
n.450A>C
c.2901A>C (p.Arg967=)
n.7250A>C
n.463A>C
n.1005A>C
c.2931A>C (p.Arg977=)
c.2844A>C (p.Arg948=)
c.1803A>C (p.Arg601=)
17g.46032105C>ACA399986464KANSL1c.3032G>T (p.Arg1011Leu)
c.3029G>T (p.Arg1010Leu)
c.2840G>T (p.Arg947Leu)
n.449G>T
c.2900G>T (p.Arg967Leu)
n.7249G>T
n.462G>T
n.1004G>T
c.2930G>T (p.Arg977Leu)
c.2843G>T (p.Arg948Leu)
c.1802G>T (p.Arg601Leu)
17g.46032105C>GCA399986462KANSL1c.3032G>C (p.Arg1011Pro)
c.3029G>C (p.Arg1010Pro)
c.2840G>C (p.Arg947Pro)
n.449G>C
c.2900G>C (p.Arg967Pro)
n.7249G>C
n.462G>C
n.1004G>C
c.2930G>C (p.Arg977Pro)
c.2843G>C (p.Arg948Pro)
c.1802G>C (p.Arg601Pro)
17g.46032105C>TCA399986461KANSL1c.3032G>A (p.Arg1011Gln)
c.3029G>A (p.Arg1010Gln)
c.2840G>A (p.Arg947Gln)
n.449G>A
c.2900G>A (p.Arg967Gln)
n.7249G>A
n.462G>A
n.1004G>A
c.2930G>A (p.Arg977Gln)
c.2843G>A (p.Arg948Gln)
c.1802G>A (p.Arg601Gln)
 gnomAD v4 COSMIC
17g.46032106G>ACA399986465KANSL1c.3031C>T (p.Arg1011Ter)
c.3028C>T (p.Arg1010Ter)
c.2839C>T (p.Arg947Ter)
n.448C>T
c.2899C>T (p.Arg967Ter)
n.7248C>T
n.461C>T
n.1003C>T
c.2929C>T (p.Arg977Ter)
c.2842C>T (p.Arg948Ter)
c.1801C>T (p.Arg601Ter)
 ClinVar dbSNP
17g.46032106G>CCA399986466KANSL1c.3031C>G (p.Arg1011Gly)
c.3028C>G (p.Arg1010Gly)
c.2839C>G (p.Arg947Gly)
n.448C>G
c.2899C>G (p.Arg967Gly)
n.7248C>G
n.461C>G
n.1003C>G
c.2929C>G (p.Arg977Gly)
c.2842C>G (p.Arg948Gly)
c.1801C>G (p.Arg601Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.46032106G=CA2262111003KANSL1c.3031C= (p.Arg1011=)
c.3028C= (p.Arg1010=)
c.2839C= (p.Arg947=)
n.448C=
c.2899C= (p.Arg967=)
n.7248C=
n.461C=
n.1003C=
c.2929C= (p.Arg977=)
c.2842C= (p.Arg948=)
c.1801C= (p.Arg601=)
17g.46032106G>TCA8618396KANSL1c.3031C>A (p.Arg1011=)
c.3028C>A (p.Arg1010=)
c.2839C>A (p.Arg947=)
n.448C>A
c.2899C>A (p.Arg967=)
n.7248C>A
n.461C>A
n.1003C>A
c.2929C>A (p.Arg977=)
c.2842C>A (p.Arg948=)
c.1801C>A (p.Arg601=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032107C>ACA500371951KANSL1c.3030G>T (p.Pro1010=)
c.3027G>T (p.Pro1009=)
c.2838G>T (p.Pro946=)
n.447G>T
c.2898G>T (p.Pro966=)
n.7247G>T
n.460G>T
n.1002G>T
c.2928G>T (p.Pro976=)
c.2841G>T (p.Pro947=)
c.1800G>T (p.Pro600=)
17g.46032107C=CA2262111004KANSL1c.3030G= (p.Pro1010=)
c.3027G= (p.Pro1009=)
c.2838G= (p.Pro946=)
n.447G=
c.2898G= (p.Pro966=)
n.7247G=
n.460G=
n.1002G=
c.2928G= (p.Pro976=)
c.2841G= (p.Pro947=)
c.1800G= (p.Pro600=)
17g.46032107C>GCA500371952KANSL1c.3030G>C (p.Pro1010=)
c.3027G>C (p.Pro1009=)
c.2838G>C (p.Pro946=)
n.447G>C
c.2898G>C (p.Pro966=)
n.7247G>C
n.460G>C
n.1002G>C
c.2928G>C (p.Pro976=)
c.2841G>C (p.Pro947=)
c.1800G>C (p.Pro600=)
17g.46032107C>TCA8618397KANSL1c.3030G>A (p.Pro1010=)
c.3027G>A (p.Pro1009=)
c.2838G>A (p.Pro946=)
n.447G>A
c.2898G>A (p.Pro966=)
n.7247G>A
n.460G>A
n.1002G>A
c.2928G>A (p.Pro976=)
c.2841G>A (p.Pro947=)
c.1800G>A (p.Pro600=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032108G>ACA8618398KANSL1c.3029C>T (p.Pro1010Leu)
c.3026C>T (p.Pro1009Leu)
c.2837C>T (p.Pro946Leu)
n.446C>T
c.2897C>T (p.Pro966Leu)
n.7246C>T
n.459C>T
n.1001C>T
c.2927C>T (p.Pro976Leu)
c.2840C>T (p.Pro947Leu)
c.1799C>T (p.Pro600Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032108G>CCA399986472KANSL1c.3029C>G (p.Pro1010Arg)
c.3026C>G (p.Pro1009Arg)
c.2837C>G (p.Pro946Arg)
n.446C>G
c.2897C>G (p.Pro966Arg)
n.7246C>G
n.459C>G
n.1001C>G
c.2927C>G (p.Pro976Arg)
c.2840C>G (p.Pro947Arg)
c.1799C>G (p.Pro600Arg)
17g.46032108G=CA2262111005KANSL1c.3029C= (p.Pro1010=)
c.3026C= (p.Pro1009=)
c.2837C= (p.Pro946=)
n.446C=
c.2897C= (p.Pro966=)
n.7246C=
n.459C=
n.1001C=
c.2927C= (p.Pro976=)
c.2840C= (p.Pro947=)
c.1799C= (p.Pro600=)
17g.46032108G>TCA399986473KANSL1c.3029C>A (p.Pro1010Gln)
c.3026C>A (p.Pro1009Gln)
c.2837C>A (p.Pro946Gln)
n.446C>A
c.2897C>A (p.Pro966Gln)
n.7246C>A
n.459C>A
n.1001C>A
c.2927C>A (p.Pro976Gln)
c.2840C>A (p.Pro947Gln)
c.1799C>A (p.Pro600Gln)
 gnomAD v4
17g.46032109G>ACA8618399KANSL1c.3028C>T (p.Pro1010Ser)
c.3025C>T (p.Pro1009Ser)
c.2836C>T (p.Pro946Ser)
n.445C>T
c.2896C>T (p.Pro966Ser)
n.7245C>T
n.458C>T
n.1000C>T
c.2926C>T (p.Pro976Ser)
c.2839C>T (p.Pro947Ser)
c.1798C>T (p.Pro600Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032109G>CCA291125846KANSL1c.3028C>G (p.Pro1010Ala)
c.3025C>G (p.Pro1009Ala)
c.2836C>G (p.Pro946Ala)
n.445C>G
c.2896C>G (p.Pro966Ala)
n.7245C>G
n.458C>G
n.1000C>G
c.2926C>G (p.Pro976Ala)
c.2839C>G (p.Pro947Ala)
c.1798C>G (p.Pro600Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46032109G=CA2262111006KANSL1c.3028C= (p.Pro1010=)
c.3025C= (p.Pro1009=)
c.2836C= (p.Pro946=)
n.445C=
c.2896C= (p.Pro966=)
n.7245C=
n.458C=
n.1000C=
c.2926C= (p.Pro976=)
c.2839C= (p.Pro947=)
c.1798C= (p.Pro600=)
17g.46032109G>TCA399986477KANSL1c.3028C>A (p.Pro1010Thr)
c.3025C>A (p.Pro1009Thr)
c.2836C>A (p.Pro946Thr)
n.445C>A
c.2896C>A (p.Pro966Thr)
n.7245C>A
n.458C>A
n.1000C>A
c.2926C>A (p.Pro976Thr)
c.2839C>A (p.Pro947Thr)
c.1798C>A (p.Pro600Thr)
 gnomAD v4
17g.46032110A=CA2262111007KANSL1c.3027T= (p.Thr1009=)
c.3024T= (p.Thr1008=)
c.2835T= (p.Thr945=)
n.444T=
c.2895T= (p.Thr965=)
n.7244T=
n.457T=
n.999T=
c.2925T= (p.Thr975=)
c.2838T= (p.Thr946=)
c.1797T= (p.Thr599=)
17g.46032110A>CCA8618401KANSL1c.3027T>G (p.Thr1009=)
c.3024T>G (p.Thr1008=)
c.2835T>G (p.Thr945=)
n.444T>G
c.2895T>G (p.Thr965=)
n.7244T>G
n.457T>G
n.999T>G
c.2925T>G (p.Thr975=)
c.2838T>G (p.Thr946=)
c.1797T>G (p.Thr599=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032110A>GCA500371953KANSL1c.3027T>C (p.Thr1009=)
c.3024T>C (p.Thr1008=)
c.2835T>C (p.Thr945=)
n.444T>C
c.2895T>C (p.Thr965=)
n.7244T>C
n.457T>C
n.999T>C
c.2925T>C (p.Thr975=)
c.2838T>C (p.Thr946=)
c.1797T>C (p.Thr599=)
17g.46032110A>TCA8618400KANSL1c.3027T>A (p.Thr1009=)
c.3024T>A (p.Thr1008=)
c.2835T>A (p.Thr945=)
n.444T>A
c.2895T>A (p.Thr965=)
n.7244T>A
n.457T>A
n.999T>A
c.2925T>A (p.Thr975=)
c.2838T>A (p.Thr946=)
c.1797T>A (p.Thr599=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032111G>ACA399986482KANSL1c.3026C>T (p.Thr1009Ile)
c.3023C>T (p.Thr1008Ile)
c.2834C>T (p.Thr945Ile)
n.443C>T
c.2894C>T (p.Thr965Ile)
n.7243C>T
n.456C>T
n.998C>T
c.2924C>T (p.Thr975Ile)
c.2837C>T (p.Thr946Ile)
c.1796C>T (p.Thr599Ile)
17g.46032111G>CCA399986483KANSL1c.3026C>G (p.Thr1009Ser)
c.3023C>G (p.Thr1008Ser)
c.2834C>G (p.Thr945Ser)
n.443C>G
c.2894C>G (p.Thr965Ser)
n.7243C>G
n.456C>G
n.998C>G
c.2924C>G (p.Thr975Ser)
c.2837C>G (p.Thr946Ser)
c.1796C>G (p.Thr599Ser)
17g.46032111G>TCA399986480KANSL1c.3026C>A (p.Thr1009Asn)
c.3023C>A (p.Thr1008Asn)
c.2834C>A (p.Thr945Asn)
n.443C>A
c.2894C>A (p.Thr965Asn)
n.7243C>A
n.456C>A
n.998C>A
c.2924C>A (p.Thr975Asn)
c.2837C>A (p.Thr946Asn)
c.1796C>A (p.Thr599Asn)
17g.46032112delCA2638372159KANSL1c.3025del (p.Thr1009LeufsTer5)
c.3022del (p.Thr1008LeufsTer5)
c.2833del (p.Thr945LeufsTer5)
n.442del
c.2893del (p.Thr965LeufsTer5)
n.7242del
n.455del
n.997del
c.2923del (p.Thr975LeufsTer5)
c.2836del (p.Thr946LeufsTer5)
c.1795del (p.Thr599LeufsTer5)
 gnomAD v4
17g.46032112T>ACA399986486KANSL1c.3025A>T (p.Thr1009Ser)
c.3022A>T (p.Thr1008Ser)
c.2833A>T (p.Thr945Ser)
n.442A>T
c.2893A>T (p.Thr965Ser)
n.7242A>T
n.455A>T
n.997A>T
c.2923A>T (p.Thr975Ser)
c.2836A>T (p.Thr946Ser)
c.1795A>T (p.Thr599Ser)
17g.46032112T>CCA399986488KANSL1c.3025A>G (p.Thr1009Ala)
c.3022A>G (p.Thr1008Ala)
c.2833A>G (p.Thr945Ala)
n.442A>G
c.2893A>G (p.Thr965Ala)
n.7242A>G
n.455A>G
n.997A>G
c.2923A>G (p.Thr975Ala)
c.2836A>G (p.Thr946Ala)
c.1795A>G (p.Thr599Ala)
 gnomAD v4
17g.46032112T>GCA8618402KANSL1c.3025A>C (p.Thr1009Pro)
c.3022A>C (p.Thr1008Pro)
c.2833A>C (p.Thr945Pro)
n.442A>C
c.2893A>C (p.Thr965Pro)
n.7242A>C
n.455A>C
n.997A>C
c.2923A>C (p.Thr975Pro)
c.2836A>C (p.Thr946Pro)
c.1795A>C (p.Thr599Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032112T=CA2262111008KANSL1c.3025A= (p.Thr1009=)
c.3022A= (p.Thr1008=)
c.2833A= (p.Thr945=)
n.442A=
c.2893A= (p.Thr965=)
n.7242A=
n.455A=
n.997A=
c.2923A= (p.Thr975=)
c.2836A= (p.Thr946=)
c.1795A= (p.Thr599=)
17g.46032113G>ACA500371954KANSL1c.3024C>T (p.Asp1008=)
c.3021C>T (p.Asp1007=)
c.2832C>T (p.Asp944=)
n.441C>T
c.2892C>T (p.Asp964=)
n.7241C>T
n.454C>T
n.996C>T
c.2922C>T (p.Asp974=)
c.2835C>T (p.Asp945=)
c.1794C>T (p.Asp598=)
17g.46032113G>CCA399986490KANSL1c.3024C>G (p.Asp1008Glu)
c.3021C>G (p.Asp1007Glu)
c.2832C>G (p.Asp944Glu)
n.441C>G
c.2892C>G (p.Asp964Glu)
n.7241C>G
n.454C>G
n.996C>G
c.2922C>G (p.Asp974Glu)
c.2835C>G (p.Asp945Glu)
c.1794C>G (p.Asp598Glu)
17g.46032113G>TCA399986492KANSL1c.3024C>A (p.Asp1008Glu)
c.3021C>A (p.Asp1007Glu)
c.2832C>A (p.Asp944Glu)
n.441C>A
c.2892C>A (p.Asp964Glu)
n.7241C>A
n.454C>A
n.996C>A
c.2922C>A (p.Asp974Glu)
c.2835C>A (p.Asp945Glu)
c.1794C>A (p.Asp598Glu)
17g.46032114T>ACA399986497KANSL1c.3023A>T (p.Asp1008Val)
c.3020A>T (p.Asp1007Val)
c.2831A>T (p.Asp944Val)
n.440A>T
c.2891A>T (p.Asp964Val)
n.7240A>T
n.453A>T
n.995A>T
c.2921A>T (p.Asp974Val)
c.2834A>T (p.Asp945Val)
c.1793A>T (p.Asp598Val)
17g.46032114T>CCA399986493KANSL1c.3023A>G (p.Asp1008Gly)
c.3020A>G (p.Asp1007Gly)
c.2831A>G (p.Asp944Gly)
n.440A>G
c.2891A>G (p.Asp964Gly)
n.7240A>G
n.453A>G
n.995A>G
c.2921A>G (p.Asp974Gly)
c.2834A>G (p.Asp945Gly)
c.1793A>G (p.Asp598Gly)
17g.46032114T>GCA399986495KANSL1c.3023A>C (p.Asp1008Ala)
c.3020A>C (p.Asp1007Ala)
c.2831A>C (p.Asp944Ala)
n.440A>C
c.2891A>C (p.Asp964Ala)
n.7240A>C
n.453A>C
n.995A>C
c.2921A>C (p.Asp974Ala)
c.2834A>C (p.Asp945Ala)
c.1793A>C (p.Asp598Ala)
17g.46032115C>ACA399986499KANSL1c.3022G>T (p.Asp1008Tyr)
c.3019G>T (p.Asp1007Tyr)
c.2830G>T (p.Asp944Tyr)
n.439G>T
c.2890G>T (p.Asp964Tyr)
n.7239G>T
n.452G>T
n.994G>T
c.2920G>T (p.Asp974Tyr)
c.2833G>T (p.Asp945Tyr)
c.1792G>T (p.Asp598Tyr)
17g.46032115C=CA2262111009KANSL1c.3022G= (p.Asp1008=)
c.3019G= (p.Asp1007=)
c.2830G= (p.Asp944=)
n.439G=
c.2890G= (p.Asp964=)
n.7239G=
n.452G=
n.994G=
c.2920G= (p.Asp974=)
c.2833G= (p.Asp945=)
c.1792G= (p.Asp598=)
17g.46032115C>GCA399986501KANSL1c.3022G>C (p.Asp1008His)
c.3019G>C (p.Asp1007His)
c.2830G>C (p.Asp944His)
n.439G>C
c.2890G>C (p.Asp964His)
n.7239G>C
n.452G>C
n.994G>C
c.2920G>C (p.Asp974His)
c.2833G>C (p.Asp945His)
c.1792G>C (p.Asp598His)
17g.46032115C>TCA399986503KANSL1c.3022G>A (p.Asp1008Asn)
c.3019G>A (p.Asp1007Asn)
c.2830G>A (p.Asp944Asn)
n.439G>A
c.2890G>A (p.Asp964Asn)
n.7239G>A
n.452G>A
n.994G>A
c.2920G>A (p.Asp974Asn)
c.2833G>A (p.Asp945Asn)
c.1792G>A (p.Asp598Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.46032116C>ACA500371957KANSL1c.3021G>T (p.Arg1007=)
c.3018G>T (p.Arg1006=)
c.2829G>T (p.Arg943=)
n.438G>T
c.2889G>T (p.Arg963=)
n.7238G>T
n.451G>T
n.993G>T
c.2919G>T (p.Arg973=)
c.2832G>T (p.Arg944=)
c.1791G>T (p.Arg597=)
 gnomAD v4
17g.46032116C>GCA500371955KANSL1c.3021G>C (p.Arg1007=)
c.3018G>C (p.Arg1006=)
c.2829G>C (p.Arg943=)
n.438G>C
c.2889G>C (p.Arg963=)
n.7238G>C
n.451G>C
n.993G>C
c.2919G>C (p.Arg973=)
c.2832G>C (p.Arg944=)
c.1791G>C (p.Arg597=)
17g.46032116C>TCA500371956KANSL1c.3021G>A (p.Arg1007=)
c.3018G>A (p.Arg1006=)
c.2829G>A (p.Arg943=)
n.438G>A
c.2889G>A (p.Arg963=)
n.7238G>A
n.451G>A
n.993G>A
c.2919G>A (p.Arg973=)
c.2832G>A (p.Arg944=)
c.1791G>A (p.Arg597=)
 gnomAD v4
17g.46032116_46032119delCA2638372167KANSL1c.3018_3021del (p.Arg1007ThrfsTer6)
c.3015_3018del (p.Arg1006ThrfsTer6)
c.2826_2829del (p.Arg943ThrfsTer6)
n.435_438del
c.2886_2889del (p.Arg963ThrfsTer6)
n.7235_7238del
n.448_451del
n.990_993del
c.2916_2919del (p.Arg973ThrfsTer6)
c.2829_2832del (p.Arg944ThrfsTer6)
c.1788_1791del (p.Arg597ThrfsTer6)
 gnomAD v4
17g.46032117C>ACA399986505KANSL1c.3020G>T (p.Arg1007Leu)
c.3017G>T (p.Arg1006Leu)
c.2828G>T (p.Arg943Leu)
c.677G>T
n.437G>T
c.2888G>T (p.Arg963Leu)
n.7237G>T
n.450G>T
n.992G>T
c.2918G>T (p.Arg973Leu)
c.2831G>T (p.Arg944Leu)
c.1790G>T (p.Arg597Leu)
17g.46032117C=CA2262111010KANSL1c.3020G= (p.Arg1007=)
c.3017G= (p.Arg1006=)
c.2828G= (p.Arg943=)
c.677G=
n.437G=
c.2888G= (p.Arg963=)
n.7237G=
n.450G=
n.992G=
c.2918G= (p.Arg973=)
c.2831G= (p.Arg944=)
c.1790G= (p.Arg597=)
17g.46032117C>GCA399986506KANSL1c.3020G>C (p.Arg1007Pro)
c.3017G>C (p.Arg1006Pro)
c.2828G>C (p.Arg943Pro)
c.677G>C
n.437G>C
c.2888G>C (p.Arg963Pro)
n.7237G>C
n.450G>C
n.992G>C
c.2918G>C (p.Arg973Pro)
c.2831G>C (p.Arg944Pro)
c.1790G>C (p.Arg597Pro)
 dbSNP
17g.46032117C>TCA8618403KANSL1c.3020G>A (p.Arg1007Gln)
c.3017G>A (p.Arg1006Gln)
c.2828G>A (p.Arg943Gln)
c.677G>A
n.437G>A
c.2888G>A (p.Arg963Gln)
n.7237G>A
n.450G>A
n.992G>A
c.2918G>A (p.Arg973Gln)
c.2831G>A (p.Arg944Gln)
c.1790G>A (p.Arg597Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032118G>ACA16607298KANSL1c.3019C>T (p.Arg1007Trp)
c.3016C>T (p.Arg1006Trp)
c.2827C>T (p.Arg943Trp)
c.676C>T
n.436C>T
c.2887C>T (p.Arg963Trp)
n.7236C>T
n.449C>T
n.991C>T
c.2917C>T (p.Arg973Trp)
c.2830C>T (p.Arg944Trp)
c.1789C>T (p.Arg597Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.46032118G>CCA399986509KANSL1c.3019C>G (p.Arg1007Gly)
c.3016C>G (p.Arg1006Gly)
c.2827C>G (p.Arg943Gly)
c.676C>G
n.436C>G
c.2887C>G (p.Arg963Gly)
n.7236C>G
n.449C>G
n.991C>G
c.2917C>G (p.Arg973Gly)
c.2830C>G (p.Arg944Gly)
c.1789C>G (p.Arg597Gly)
17g.46032118G=CA2262111011KANSL1c.3019C= (p.Arg1007=)
c.3016C= (p.Arg1006=)
c.2827C= (p.Arg943=)
c.676C=
n.436C=
c.2887C= (p.Arg963=)
n.7236C=
n.449C=
n.991C=
c.2917C= (p.Arg973=)
c.2830C= (p.Arg944=)
c.1789C= (p.Arg597=)
17g.46032118G>TCA500371958KANSL1c.3019C>A (p.Arg1007=)
c.3016C>A (p.Arg1006=)
c.2827C>A (p.Arg943=)
c.676C>A
n.436C>A
c.2887C>A (p.Arg963=)
n.7236C>A
n.449C>A
n.991C>A
c.2917C>A (p.Arg973=)
c.2830C>A (p.Arg944=)
c.1789C>A (p.Arg597=)
17g.46032119A=CA2262111012KANSL1c.3018T= (p.Ala1006=)
c.3015T= (p.Ala1005=)
c.2826T= (p.Ala942=)
c.675T= (p.Ala225=)
n.435T=
c.2886T= (p.Ala962=)
n.7235T=
n.448T=
n.990T=
c.2916T= (p.Ala972=)
c.2829T= (p.Ala943=)
c.1788T= (p.Ala596=)
17g.46032119A>CCA500371960KANSL1c.3018T>G (p.Ala1006=)
c.3015T>G (p.Ala1005=)
c.2826T>G (p.Ala942=)
c.675T>G (p.Ala225=)
n.435T>G
c.2886T>G (p.Ala962=)
n.7235T>G
n.448T>G
n.990T>G
c.2916T>G (p.Ala972=)
c.2829T>G (p.Ala943=)
c.1788T>G (p.Ala596=)
17g.46032119A>GCA500371959KANSL1c.3018T>C (p.Ala1006=)
c.3015T>C (p.Ala1005=)
c.2826T>C (p.Ala942=)
c.675T>C (p.Ala225=)
n.435T>C
c.2886T>C (p.Ala962=)
n.7235T>C
n.448T>C
n.990T>C
c.2916T>C (p.Ala972=)
c.2829T>C (p.Ala943=)
c.1788T>C (p.Ala596=)
 dbSNP gnomAD v4
17g.46032119A>TCA500371961KANSL1c.3018T>A (p.Ala1006=)
c.3015T>A (p.Ala1005=)
c.2826T>A (p.Ala942=)
c.675T>A (p.Ala225=)
n.435T>A
c.2886T>A (p.Ala962=)
n.7235T>A
n.448T>A
n.990T>A
c.2916T>A (p.Ala972=)
c.2829T>A (p.Ala943=)
c.1788T>A (p.Ala596=)
17g.46032120G>ACA399986511KANSL1c.3017C>T (p.Ala1006Val)
c.3014C>T (p.Ala1005Val)
c.2825C>T (p.Ala942Val)
c.674C>T (p.Ala225Val)
n.434C>T
c.2885C>T (p.Ala962Val)
n.7234C>T
n.447C>T
n.989C>T
c.2915C>T (p.Ala972Val)
c.2828C>T (p.Ala943Val)
c.1787C>T (p.Ala596Val)
17g.46032120G>CCA399986514KANSL1c.3017C>G (p.Ala1006Gly)
c.3014C>G (p.Ala1005Gly)
c.2825C>G (p.Ala942Gly)
c.674C>G (p.Ala225Gly)
n.434C>G
c.2885C>G (p.Ala962Gly)
n.7234C>G
n.447C>G
n.989C>G
c.2915C>G (p.Ala972Gly)
c.2828C>G (p.Ala943Gly)
c.1787C>G (p.Ala596Gly)
17g.46032120G>TCA399986513KANSL1c.3017C>A (p.Ala1006Asp)
c.3014C>A (p.Ala1005Asp)
c.2825C>A (p.Ala942Asp)
c.674C>A (p.Ala225Asp)
n.434C>A
c.2885C>A (p.Ala962Asp)
n.7234C>A
n.447C>A
n.989C>A
c.2915C>A (p.Ala972Asp)
c.2828C>A (p.Ala943Asp)
c.1787C>A (p.Ala596Asp)
17g.46032121C>ACA399986517KANSL1c.3016G>T (p.Ala1006Ser)
c.3013G>T (p.Ala1005Ser)
c.2824G>T (p.Ala942Ser)
c.673G>T (p.Ala225Ser)
n.433G>T
c.2884G>T (p.Ala962Ser)
n.7233G>T
n.446G>T
n.988G>T
c.2914G>T (p.Ala972Ser)
c.2827G>T (p.Ala943Ser)
c.1786G>T (p.Ala596Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46032121C=CA2262111013KANSL1c.3016G= (p.Ala1006=)
c.3013G= (p.Ala1005=)
c.2824G= (p.Ala942=)
c.673G= (p.Ala225=)
n.433G=
c.2884G= (p.Ala962=)
n.7233G=
n.446G=
n.988G=
c.2914G= (p.Ala972=)
c.2827G= (p.Ala943=)
c.1786G= (p.Ala596=)
17g.46032121C>GCA399986522KANSL1c.3016G>C (p.Ala1006Pro)
c.3013G>C (p.Ala1005Pro)
c.2824G>C (p.Ala942Pro)
c.673G>C (p.Ala225Pro)
n.433G>C
c.2884G>C (p.Ala962Pro)
n.7233G>C
n.446G>C
n.988G>C
c.2914G>C (p.Ala972Pro)
c.2827G>C (p.Ala943Pro)
c.1786G>C (p.Ala596Pro)
17g.46032121C>TCA399986519KANSL1c.3016G>A (p.Ala1006Thr)
c.3013G>A (p.Ala1005Thr)
c.2824G>A (p.Ala942Thr)
c.673G>A (p.Ala225Thr)
n.433G>A
c.2884G>A (p.Ala962Thr)
n.7233G>A
n.446G>A
n.988G>A
c.2914G>A (p.Ala972Thr)
c.2827G>A (p.Ala943Thr)
c.1786G>A (p.Ala596Thr)
17g.46032122C>ACA500371962KANSL1c.3015G>T (p.Val1005=)
c.3012G>T (p.Val1004=)
c.2823G>T (p.Val941=)
c.672G>T (p.Val224=)
n.432G>T
c.2883G>T (p.Val961=)
n.7232G>T
n.445G>T
n.987G>T
c.2913G>T (p.Val971=)
c.2826G>T (p.Val942=)
c.1785G>T (p.Val595=)
17g.46032122C>GCA500371964KANSL1c.3015G>C (p.Val1005=)
c.3012G>C (p.Val1004=)
c.2823G>C (p.Val941=)
c.672G>C (p.Val224=)
n.432G>C
c.2883G>C (p.Val961=)
n.7232G>C
n.445G>C
n.987G>C
c.2913G>C (p.Val971=)
c.2826G>C (p.Val942=)
c.1785G>C (p.Val595=)
17g.46032122C>TCA500371963KANSL1c.3015G>A (p.Val1005=)
c.3012G>A (p.Val1004=)
c.2823G>A (p.Val941=)
c.672G>A (p.Val224=)
n.432G>A
c.2883G>A (p.Val961=)
n.7232G>A
n.445G>A
n.987G>A
c.2913G>A (p.Val971=)
c.2826G>A (p.Val942=)
c.1785G>A (p.Val595=)
17g.46032122_46032123insGTATCATTAAACA2638372186KANSL1c.3014_3015insTTTAATGATAC (p.Ala1006LeufsTer12)
c.3011_3012insTTTAATGATAC (p.Ala1005LeufsTer12)
c.2822_2823insTTTAATGATAC (p.Ala942LeufsTer12)
c.671_672insTTTAATGATAC (p.Ala225LeufsTer?)
n.431_432insTTTAATGATAC
c.2882_2883insTTTAATGATAC (p.Ala962LeufsTer12)
n.7231_7232insTTTAATGATAC
n.444_445insTTTAATGATAC
n.986_987insTTTAATGATAC
c.2912_2913insTTTAATGATAC (p.Ala972LeufsTer12)
c.2825_2826insTTTAATGATAC (p.Ala943LeufsTer12)
c.1784_1785insTTTAATGATAC (p.Ala596LeufsTer12)
 gnomAD v4
17g.46032123A>CCA399986525KANSL1c.3014T>G (p.Val1005Gly)
c.3011T>G (p.Val1004Gly)
c.2822T>G (p.Val941Gly)
c.671T>G (p.Val224Gly)
n.431T>G
c.2882T>G (p.Val961Gly)
n.7231T>G
n.444T>G
n.986T>G
c.2912T>G (p.Val971Gly)
c.2825T>G (p.Val942Gly)
c.1784T>G (p.Val595Gly)
17g.46032123A>GCA399986528KANSL1c.3014T>C (p.Val1005Ala)
c.3011T>C (p.Val1004Ala)
c.2822T>C (p.Val941Ala)
c.671T>C (p.Val224Ala)
n.431T>C
c.2882T>C (p.Val961Ala)
n.7231T>C
n.444T>C
n.986T>C
c.2912T>C (p.Val971Ala)
c.2825T>C (p.Val942Ala)
c.1784T>C (p.Val595Ala)
17g.46032123A>TCA399986530KANSL1c.3014T>A (p.Val1005Glu)
c.3011T>A (p.Val1004Glu)
c.2822T>A (p.Val941Glu)
c.671T>A (p.Val224Glu)
n.431T>A
c.2882T>A (p.Val961Glu)
n.7231T>A
n.444T>A
n.986T>A
c.2912T>A (p.Val971Glu)
c.2825T>A (p.Val942Glu)
c.1784T>A (p.Val595Glu)
17g.46032124C>ACA399986533KANSL1c.3013G>T (p.Val1005Leu)
c.3010G>T (p.Val1004Leu)
c.2821G>T (p.Val941Leu)
c.670G>T (p.Val224Leu)
n.430G>T
c.2881G>T (p.Val961Leu)
n.7230G>T
n.443G>T
n.985G>T
c.2911G>T (p.Val971Leu)
c.2824G>T (p.Val942Leu)
c.1783G>T (p.Val595Leu)
 gnomAD v4
17g.46032124C>GCA399986536KANSL1c.3013G>C (p.Val1005Leu)
c.3010G>C (p.Val1004Leu)
c.2821G>C (p.Val941Leu)
c.670G>C (p.Val224Leu)
n.430G>C
c.2881G>C (p.Val961Leu)
n.7230G>C
n.443G>C
n.985G>C
c.2911G>C (p.Val971Leu)
c.2824G>C (p.Val942Leu)
c.1783G>C (p.Val595Leu)
17g.46032124C>TCA399986539KANSL1c.3013G>A (p.Val1005Met)
c.3010G>A (p.Val1004Met)
c.2821G>A (p.Val941Met)
c.670G>A (p.Val224Met)
n.430G>A
c.2881G>A (p.Val961Met)
n.7230G>A
n.443G>A
n.985G>A
c.2911G>A (p.Val971Met)
c.2824G>A (p.Val942Met)
c.1783G>A (p.Val595Met)
 gnomAD v4
17g.46032125A>CCA500371965KANSL1c.3012T>G (p.Pro1004=)
c.3009T>G (p.Pro1003=)
c.2820T>G (p.Pro940=)
c.669T>G (p.Pro223=)
n.429T>G
c.2880T>G (p.Pro960=)
n.7229T>G
n.442T>G
n.984T>G
c.2910T>G (p.Pro970=)
c.2823T>G (p.Pro941=)
c.1782T>G (p.Pro594=)
17g.46032125A>GCA500371967KANSL1c.3012T>C (p.Pro1004=)
c.3009T>C (p.Pro1003=)
c.2820T>C (p.Pro940=)
c.669T>C (p.Pro223=)
n.429T>C
c.2880T>C (p.Pro960=)
n.7229T>C
n.442T>C
n.984T>C
c.2910T>C (p.Pro970=)
c.2823T>C (p.Pro941=)
c.1782T>C (p.Pro594=)
 gnomAD v4 COSMIC
17g.46032125A>TCA500371966KANSL1c.3012T>A (p.Pro1004=)
c.3009T>A (p.Pro1003=)
c.2820T>A (p.Pro940=)
c.669T>A (p.Pro223=)
n.429T>A
c.2880T>A (p.Pro960=)
n.7229T>A
n.442T>A
n.984T>A
c.2910T>A (p.Pro970=)
c.2823T>A (p.Pro941=)
c.1782T>A (p.Pro594=)
17g.46032126G>ACA8618404KANSL1c.3011C>T (p.Pro1004Leu)
c.3008C>T (p.Pro1003Leu)
c.2819C>T (p.Pro940Leu)
c.668C>T (p.Pro223Leu)
n.428C>T
c.2879C>T (p.Pro960Leu)
n.7228C>T
n.441C>T
n.983C>T
c.2909C>T (p.Pro970Leu)
c.2822C>T (p.Pro941Leu)
c.1781C>T (p.Pro594Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032126G>CCA399986548KANSL1c.3011C>G (p.Pro1004Arg)
c.3008C>G (p.Pro1003Arg)
c.2819C>G (p.Pro940Arg)
c.668C>G (p.Pro223Arg)
n.428C>G
c.2879C>G (p.Pro960Arg)
n.7228C>G
n.441C>G
n.983C>G
c.2909C>G (p.Pro970Arg)
c.2822C>G (p.Pro941Arg)
c.1781C>G (p.Pro594Arg)
17g.46032126G=CA2262111014KANSL1c.3011C= (p.Pro1004=)
c.3008C= (p.Pro1003=)
c.2819C= (p.Pro940=)
c.668C= (p.Pro223=)
n.428C=
c.2879C= (p.Pro960=)
n.7228C=
n.441C=
n.983C=
c.2909C= (p.Pro970=)
c.2822C= (p.Pro941=)
c.1781C= (p.Pro594=)
17g.46032126G>TCA399986550KANSL1c.3011C>A (p.Pro1004His)
c.3008C>A (p.Pro1003His)
c.2819C>A (p.Pro940His)
c.668C>A (p.Pro223His)
n.428C>A
c.2879C>A (p.Pro960His)
n.7228C>A
n.441C>A
n.983C>A
c.2909C>A (p.Pro970His)
c.2822C>A (p.Pro941His)
c.1781C>A (p.Pro594His)
17g.46032129delCA2573054461KANSL1c.3011del (p.Pro1004LeufsTer10)
c.3008del (p.Pro1003LeufsTer10)
c.2819del (p.Pro940LeufsTer10)
c.668del (p.Pro223LeufsTer?)
n.428del
c.2879del (p.Pro960LeufsTer10)
n.7228del
n.441del
n.983del
c.2909del (p.Pro970LeufsTer10)
c.2822del (p.Pro941LeufsTer10)
c.1781del (p.Pro594LeufsTer10)
 ClinVar dbSNP
17g.46032127_46032136delCA2638372199KANSL1c.3002_3011del (p.Pro1001LeufsTer10)
c.2999_3008del (p.Pro1000LeufsTer10)
c.2810_2819del (p.Pro937LeufsTer10)
c.659_668del (p.Pro220LeufsTer?)
n.419_428del
c.2870_2879del (p.Pro957LeufsTer10)
n.7219_7228del
n.432_441del
n.974_983del
c.2900_2909del (p.Pro967LeufsTer10)
c.2813_2822del (p.Pro938LeufsTer10)
c.1772_1781del (p.Pro591LeufsTer10)
 gnomAD v4
17g.46032127G>ACA399986554KANSL1c.3010C>T (p.Pro1004Ser)
c.3007C>T (p.Pro1003Ser)
c.2818C>T (p.Pro940Ser)
c.667C>T (p.Pro223Ser)
n.427C>T
c.2878C>T (p.Pro960Ser)
n.7227C>T
n.440C>T
n.982C>T
c.2908C>T (p.Pro970Ser)
c.2821C>T (p.Pro941Ser)
c.1780C>T (p.Pro594Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.46032127G>CCA399986558KANSL1c.3010C>G (p.Pro1004Ala)
c.3007C>G (p.Pro1003Ala)
c.2818C>G (p.Pro940Ala)
c.667C>G (p.Pro223Ala)
n.427C>G
c.2878C>G (p.Pro960Ala)
n.7227C>G
n.440C>G
n.982C>G
c.2908C>G (p.Pro970Ala)
c.2821C>G (p.Pro941Ala)
c.1780C>G (p.Pro594Ala)
17g.46032127G=CA2262111015KANSL1c.3010C= (p.Pro1004=)
c.3007C= (p.Pro1003=)
c.2818C= (p.Pro940=)
c.667C= (p.Pro223=)
n.427C=
c.2878C= (p.Pro960=)
n.7227C=
n.440C=
n.982C=
c.2908C= (p.Pro970=)
c.2821C= (p.Pro941=)
c.1780C= (p.Pro594=)
17g.46032127G>TCA399986561KANSL1c.3010C>A (p.Pro1004Thr)
c.3007C>A (p.Pro1003Thr)
c.2818C>A (p.Pro940Thr)
c.667C>A (p.Pro223Thr)
n.427C>A
c.2878C>A (p.Pro960Thr)
n.7227C>A
n.440C>A
n.982C>A
c.2908C>A (p.Pro970Thr)
c.2821C>A (p.Pro941Thr)
c.1780C>A (p.Pro594Thr)
17g.46032128G>ACA500371969KANSL1c.3009C>T (p.Thr1003=)
c.3006C>T (p.Thr1002=)
c.2817C>T (p.Thr939=)
c.666C>T (p.Thr222=)
n.426C>T
c.2877C>T (p.Thr959=)
n.7226C>T
n.439C>T
n.981C>T
c.2907C>T (p.Thr969=)
c.2820C>T (p.Thr940=)
c.1779C>T (p.Thr593=)
17g.46032128G>CCA500371968KANSL1c.3009C>G (p.Thr1003=)
c.3006C>G (p.Thr1002=)
c.2817C>G (p.Thr939=)
c.666C>G (p.Thr222=)
n.426C>G
c.2877C>G (p.Thr959=)
n.7226C>G
n.439C>G
n.981C>G
c.2907C>G (p.Thr969=)
c.2820C>G (p.Thr940=)
c.1779C>G (p.Thr593=)
17g.46032128G>TCA500371970KANSL1c.3009C>A (p.Thr1003=)
c.3006C>A (p.Thr1002=)
c.2817C>A (p.Thr939=)
c.666C>A (p.Thr222=)
n.426C>A
c.2877C>A (p.Thr959=)
n.7226C>A
n.439C>A
n.981C>A
c.2907C>A (p.Thr969=)
c.2820C>A (p.Thr940=)
c.1779C>A (p.Thr593=)
17g.46032129G>ACA16608481KANSL1c.3008C>T (p.Thr1003Ile)
c.3005C>T (p.Thr1002Ile)
c.2816C>T (p.Thr939Ile)
c.665C>T (p.Thr222Ile)
n.425C>T
c.2876C>T (p.Thr959Ile)
n.7225C>T
n.438C>T
n.980C>T
c.2906C>T (p.Thr969Ile)
c.2819C>T (p.Thr940Ile)
c.1778C>T (p.Thr593Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46032129G>CCA8618405KANSL1c.3008C>G (p.Thr1003Ser)
c.3005C>G (p.Thr1002Ser)
c.2816C>G (p.Thr939Ser)
c.665C>G (p.Thr222Ser)
n.425C>G
c.2876C>G (p.Thr959Ser)
n.7225C>G
n.438C>G
n.980C>G
c.2906C>G (p.Thr969Ser)
c.2819C>G (p.Thr940Ser)
c.1778C>G (p.Thr593Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032129G=CA2262111016KANSL1c.3008C= (p.Thr1003=)
c.3005C= (p.Thr1002=)
c.2816C= (p.Thr939=)
c.665C= (p.Thr222=)
n.425C=
c.2876C= (p.Thr959=)
n.7225C=
n.438C=
n.980C=
c.2906C= (p.Thr969=)
c.2819C= (p.Thr940=)
c.1778C= (p.Thr593=)
17g.46032129G>TCA399986565KANSL1c.3008C>A (p.Thr1003Asn)
c.3005C>A (p.Thr1002Asn)
c.2816C>A (p.Thr939Asn)
c.665C>A (p.Thr222Asn)
n.425C>A
c.2876C>A (p.Thr959Asn)
n.7225C>A
n.438C>A
n.980C>A
c.2906C>A (p.Thr969Asn)
c.2819C>A (p.Thr940Asn)
c.1778C>A (p.Thr593Asn)
17g.46032130T>ACA399986569KANSL1c.3007A>T (p.Thr1003Ser)
c.3004A>T (p.Thr1002Ser)
c.2815A>T (p.Thr939Ser)
c.664A>T (p.Thr222Ser)
n.424A>T
c.2875A>T (p.Thr959Ser)
n.7224A>T
n.437A>T
n.979A>T
c.2905A>T (p.Thr969Ser)
c.2818A>T (p.Thr940Ser)
c.1777A>T (p.Thr593Ser)
17g.46032130T>CCA399986570KANSL1c.3007A>G (p.Thr1003Ala)
c.3004A>G (p.Thr1002Ala)
c.2815A>G (p.Thr939Ala)
c.664A>G (p.Thr222Ala)
n.424A>G
c.2875A>G (p.Thr959Ala)
n.7224A>G
n.437A>G
n.979A>G
c.2905A>G (p.Thr969Ala)
c.2818A>G (p.Thr940Ala)
c.1777A>G (p.Thr593Ala)
17g.46032130T>GCA399986574KANSL1c.3007A>C (p.Thr1003Pro)
c.3004A>C (p.Thr1002Pro)
c.2815A>C (p.Thr939Pro)
c.664A>C (p.Thr222Pro)
n.424A>C
c.2875A>C (p.Thr959Pro)
n.7224A>C
n.437A>C
n.979A>C
c.2905A>C (p.Thr969Pro)
c.2818A>C (p.Thr940Pro)
c.1777A>C (p.Thr593Pro)
 dbSNP
17g.46032131G>ACA500371972KANSL1c.3006C>T (p.Leu1002=)
c.3003C>T (p.Leu1001=)
c.2814C>T (p.Leu938=)
c.663C>T (p.Leu221=)
n.423C>T
c.2874C>T (p.Leu958=)
n.7223C>T
n.436C>T
n.978C>T
c.2904C>T (p.Leu968=)
c.2817C>T (p.Leu939=)
c.1776C>T (p.Leu592=)
 dbSNP gnomAD v4 COSMIC
17g.46032131G>CCA500371973KANSL1c.3006C>G (p.Leu1002=)
c.3003C>G (p.Leu1001=)
c.2814C>G (p.Leu938=)
c.663C>G (p.Leu221=)
n.423C>G
c.2874C>G (p.Leu958=)
n.7223C>G
n.436C>G
n.978C>G
c.2904C>G (p.Leu968=)
c.2817C>G (p.Leu939=)
c.1776C>G (p.Leu592=)
17g.46032131G=CA2262111017KANSL1c.3006C= (p.Leu1002=)
c.3003C= (p.Leu1001=)
c.2814C= (p.Leu938=)
c.663C= (p.Leu221=)
n.423C=
c.2874C= (p.Leu958=)
n.7223C=
n.436C=
n.978C=
c.2904C= (p.Leu968=)
c.2817C= (p.Leu939=)
c.1776C= (p.Leu592=)
17g.46032131G>TCA500371971KANSL1c.3006C>A (p.Leu1002=)
c.3003C>A (p.Leu1001=)
c.2814C>A (p.Leu938=)
c.663C>A (p.Leu221=)
n.423C>A
c.2874C>A (p.Leu958=)
n.7223C>A
n.436C>A
n.978C>A
c.2904C>A (p.Leu968=)
c.2817C>A (p.Leu939=)
c.1776C>A (p.Leu592=)
17g.46032132A>CCA399986577KANSL1c.3005T>G (p.Leu1002Arg)
c.3002T>G (p.Leu1001Arg)
c.2813T>G (p.Leu938Arg)
c.662T>G (p.Leu221Arg)
n.422T>G
c.2873T>G (p.Leu958Arg)
n.7222T>G
n.435T>G
n.977T>G
c.2903T>G (p.Leu968Arg)
c.2816T>G (p.Leu939Arg)
c.1775T>G (p.Leu592Arg)
17g.46032132A>GCA399986580KANSL1c.3005T>C (p.Leu1002Pro)
c.3002T>C (p.Leu1001Pro)
c.2813T>C (p.Leu938Pro)
c.662T>C (p.Leu221Pro)
n.422T>C
c.2873T>C (p.Leu958Pro)
n.7222T>C
n.435T>C
n.977T>C
c.2903T>C (p.Leu968Pro)
c.2816T>C (p.Leu939Pro)
c.1775T>C (p.Leu592Pro)
17g.46032132A>TCA399986583KANSL1c.3005T>A (p.Leu1002His)
c.3002T>A (p.Leu1001His)
c.2813T>A (p.Leu938His)
c.662T>A (p.Leu221His)
n.422T>A
c.2873T>A (p.Leu958His)
n.7222T>A
n.435T>A
n.977T>A
c.2903T>A (p.Leu968His)
c.2816T>A (p.Leu939His)
c.1775T>A (p.Leu592His)
 gnomAD v4
17g.46032133G>ACA399986587KANSL1c.3004C>T (p.Leu1002Phe)
c.3001C>T (p.Leu1001Phe)
c.2812C>T (p.Leu938Phe)
c.661C>T (p.Leu221Phe)
n.421C>T
c.2872C>T (p.Leu958Phe)
n.7221C>T
n.434C>T
n.976C>T
c.2902C>T (p.Leu968Phe)
c.2815C>T (p.Leu939Phe)
c.1774C>T (p.Leu592Phe)
 ClinVar gnomAD v4
17g.46032133G>CCA399986589KANSL1c.3004C>G (p.Leu1002Val)
c.3001C>G (p.Leu1001Val)
c.2812C>G (p.Leu938Val)
c.661C>G (p.Leu221Val)
n.421C>G
c.2872C>G (p.Leu958Val)
n.7221C>G
n.434C>G
n.976C>G
c.2902C>G (p.Leu968Val)
c.2815C>G (p.Leu939Val)
c.1774C>G (p.Leu592Val)
 dbSNP gnomAD v3 gnomAD v4
17g.46032133G=CA2262111018KANSL1c.3004C= (p.Leu1002=)
c.3001C= (p.Leu1001=)
c.2812C= (p.Leu938=)
c.661C= (p.Leu221=)
n.421C=
c.2872C= (p.Leu958=)
n.7221C=
n.434C=
n.976C=
c.2902C= (p.Leu968=)
c.2815C= (p.Leu939=)
c.1774C= (p.Leu592=)
17g.46032133G>TCA399986592KANSL1c.3004C>A (p.Leu1002Ile)
c.3001C>A (p.Leu1001Ile)
c.2812C>A (p.Leu938Ile)
c.661C>A (p.Leu221Ile)
n.421C>A
c.2872C>A (p.Leu958Ile)
n.7221C>A
n.434C>A
n.976C>A
c.2902C>A (p.Leu968Ile)
c.2815C>A (p.Leu939Ile)
c.1774C>A (p.Leu592Ile)
17g.46032134G>ACA8618406KANSL1c.3003C>T (p.Pro1001=)
c.3000C>T (p.Pro1000=)
c.2811C>T (p.Pro937=)
c.660C>T (p.Pro220=)
n.420C>T
c.2871C>T (p.Pro957=)
n.7220C>T
n.433C>T
n.975C>T
c.2901C>T (p.Pro967=)
c.2814C>T (p.Pro938=)
c.1773C>T (p.Pro591=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032134G>CCA500371976KANSL1c.3003C>G (p.Pro1001=)
c.3000C>G (p.Pro1000=)
c.2811C>G (p.Pro937=)
c.660C>G (p.Pro220=)
n.420C>G
c.2871C>G (p.Pro957=)
n.7220C>G
n.433C>G
n.975C>G
c.2901C>G (p.Pro967=)
c.2814C>G (p.Pro938=)
c.1773C>G (p.Pro591=)
17g.46032134G=CA2262111019KANSL1c.3003C= (p.Pro1001=)
c.3000C= (p.Pro1000=)
c.2811C= (p.Pro937=)
c.660C= (p.Pro220=)
n.420C=
c.2871C= (p.Pro957=)
n.7220C=
n.433C=
n.975C=
c.2901C= (p.Pro967=)
c.2814C= (p.Pro938=)
c.1773C= (p.Pro591=)
17g.46032134G>TCA500371975KANSL1c.3003C>A (p.Pro1001=)
c.3000C>A (p.Pro1000=)
c.2811C>A (p.Pro937=)
c.660C>A (p.Pro220=)
n.420C>A
c.2871C>A (p.Pro957=)
n.7220C>A
n.433C>A
n.975C>A
c.2901C>A (p.Pro967=)
c.2814C>A (p.Pro938=)
c.1773C>A (p.Pro591=)
17g.46032135G>ACA16607657KANSL1c.3002C>T (p.Pro1001Leu)
c.2999C>T (p.Pro1000Leu)
c.2810C>T (p.Pro937Leu)
c.659C>T (p.Pro220Leu)
n.419C>T
c.2870C>T (p.Pro957Leu)
n.7219C>T
n.432C>T
n.974C>T
c.2900C>T (p.Pro967Leu)
c.2813C>T (p.Pro938Leu)
c.1772C>T (p.Pro591Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46032135G>CCA399986601KANSL1c.3002C>G (p.Pro1001Arg)
c.2999C>G (p.Pro1000Arg)
c.2810C>G (p.Pro937Arg)
c.659C>G (p.Pro220Arg)
n.419C>G
c.2870C>G (p.Pro957Arg)
n.7219C>G
n.432C>G
n.974C>G
c.2900C>G (p.Pro967Arg)
c.2813C>G (p.Pro938Arg)
c.1772C>G (p.Pro591Arg)
17g.46032135G=CA2262111020KANSL1c.3002C= (p.Pro1001=)
c.2999C= (p.Pro1000=)
c.2810C= (p.Pro937=)
c.659C= (p.Pro220=)
n.419C=
c.2870C= (p.Pro957=)
n.7219C=
n.432C=
n.974C=
c.2900C= (p.Pro967=)
c.2813C= (p.Pro938=)
c.1772C= (p.Pro591=)
17g.46032135G>TCA399986599KANSL1c.3002C>A (p.Pro1001His)
c.2999C>A (p.Pro1000His)
c.2810C>A (p.Pro937His)
c.659C>A (p.Pro220His)
n.419C>A
c.2870C>A (p.Pro957His)
n.7219C>A
n.432C>A
n.974C>A
c.2900C>A (p.Pro967His)
c.2813C>A (p.Pro938His)
c.1772C>A (p.Pro591His)
 dbSNP gnomAD v2 gnomAD v4
17g.46032136G>ACA399986606KANSL1c.3001C>T (p.Pro1001Ser)
c.2998C>T (p.Pro1000Ser)
c.2809C>T (p.Pro937Ser)
c.658C>T (p.Pro220Ser)
n.418C>T
c.2869C>T (p.Pro957Ser)
n.7218C>T
n.431C>T
n.973C>T
c.2899C>T (p.Pro967Ser)
c.2812C>T (p.Pro938Ser)
c.1771C>T (p.Pro591Ser)
17g.46032136G>CCA399986608KANSL1c.3001C>G (p.Pro1001Ala)
c.2998C>G (p.Pro1000Ala)
c.2809C>G (p.Pro937Ala)
c.658C>G (p.Pro220Ala)
n.418C>G
c.2869C>G (p.Pro957Ala)
n.7218C>G
n.431C>G
n.973C>G
c.2899C>G (p.Pro967Ala)
c.2812C>G (p.Pro938Ala)
c.1771C>G (p.Pro591Ala)
17g.46032136G>TCA399986611KANSL1c.3001C>A (p.Pro1001Thr)
c.2998C>A (p.Pro1000Thr)
c.2809C>A (p.Pro937Thr)
c.658C>A (p.Pro220Thr)
n.418C>A
c.2869C>A (p.Pro957Thr)
n.7218C>A
n.431C>A
n.973C>A
c.2899C>A (p.Pro967Thr)
c.2812C>A (p.Pro938Thr)
c.1771C>A (p.Pro591Thr)
17g.46032137T>ACA500371978KANSL1c.3000A>T (p.Ala1000=)
c.2997A>T (p.Ala999=)
c.2808A>T (p.Ala936=)
c.657A>T (p.Ala219=)
n.417A>T
c.2868A>T (p.Ala956=)
n.7217A>T
n.430A>T
n.972A>T
c.2898A>T (p.Ala966=)
c.2811A>T (p.Ala937=)
c.1770A>T (p.Ala590=)
17g.46032137T>CCA500371979KANSL1c.3000A>G (p.Ala1000=)
c.2997A>G (p.Ala999=)
c.2808A>G (p.Ala936=)
c.657A>G (p.Ala219=)
n.417A>G
c.2868A>G (p.Ala956=)
n.7217A>G
n.430A>G
n.972A>G
c.2898A>G (p.Ala966=)
c.2811A>G (p.Ala937=)
c.1770A>G (p.Ala590=)
17g.46032137T>GCA500371977KANSL1c.3000A>C (p.Ala1000=)
c.2997A>C (p.Ala999=)
c.2808A>C (p.Ala936=)
c.657A>C (p.Ala219=)
n.417A>C
c.2868A>C (p.Ala956=)
n.7217A>C
n.430A>C
n.972A>C
c.2898A>C (p.Ala966=)
c.2811A>C (p.Ala937=)
c.1770A>C (p.Ala590=)
 gnomAD v3 gnomAD v4
17g.46032138G>ACA399986614KANSL1c.2999C>T (p.Ala1000Val)
c.2996C>T (p.Ala999Val)
c.2807C>T (p.Ala936Val)
c.656C>T (p.Ala219Val)
n.416C>T
c.2867C>T (p.Ala956Val)
n.7216C>T
n.429C>T
n.971C>T
c.2897C>T (p.Ala966Val)
c.2810C>T (p.Ala937Val)
c.1769C>T (p.Ala590Val)
17g.46032138G>CCA399986617KANSL1c.2999C>G (p.Ala1000Gly)
c.2996C>G (p.Ala999Gly)
c.2807C>G (p.Ala936Gly)
c.656C>G (p.Ala219Gly)
n.416C>G
c.2867C>G (p.Ala956Gly)
n.7216C>G
n.429C>G
n.971C>G
c.2897C>G (p.Ala966Gly)
c.2810C>G (p.Ala937Gly)
c.1769C>G (p.Ala590Gly)
17g.46032138G>TCA399986619KANSL1c.2999C>A (p.Ala1000Glu)
c.2996C>A (p.Ala999Glu)
c.2807C>A (p.Ala936Glu)
c.656C>A (p.Ala219Glu)
n.416C>A
c.2867C>A (p.Ala956Glu)
n.7216C>A
n.429C>A
n.971C>A
c.2897C>A (p.Ala966Glu)
c.2810C>A (p.Ala937Glu)
c.1769C>A (p.Ala590Glu)
17g.46032139C>ACA399986623KANSL1c.2998G>T (p.Ala1000Ser)
c.2995G>T (p.Ala999Ser)
c.2806G>T (p.Ala936Ser)
c.655G>T (p.Ala219Ser)
n.415G>T
c.2866G>T (p.Ala956Ser)
n.7215G>T
n.428G>T
n.970G>T
c.2896G>T (p.Ala966Ser)
c.2809G>T (p.Ala937Ser)
c.1768G>T (p.Ala590Ser)
17g.46032139C>GCA399986625KANSL1c.2998G>C (p.Ala1000Pro)
c.2995G>C (p.Ala999Pro)
c.2806G>C (p.Ala936Pro)
c.655G>C (p.Ala219Pro)
n.415G>C
c.2866G>C (p.Ala956Pro)
n.7215G>C
n.428G>C
n.970G>C
c.2896G>C (p.Ala966Pro)
c.2809G>C (p.Ala937Pro)
c.1768G>C (p.Ala590Pro)
17g.46032139C>TCA399986629KANSL1c.2998G>A (p.Ala1000Thr)
c.2995G>A (p.Ala999Thr)
c.2806G>A (p.Ala936Thr)
c.655G>A (p.Ala219Thr)
n.415G>A
c.2866G>A (p.Ala956Thr)
n.7215G>A
n.428G>A
n.970G>A
c.2896G>A (p.Ala966Thr)
c.2809G>A (p.Ala937Thr)
c.1768G>A (p.Ala590Thr)
 ClinVar
17g.46032140T>ACA500371982KANSL1c.2997A>T (p.Ser999=)
c.2994A>T (p.Ser998=)
c.2805A>T (p.Ser935=)
c.654A>T (p.Ser218=)
n.414A>T
c.2865A>T (p.Ser955=)
n.7214A>T
n.427A>T
n.969A>T
c.2895A>T (p.Ser965=)
c.2808A>T (p.Ser936=)
c.1767A>T (p.Ser589=)
17g.46032140T>CCA500371980KANSL1c.2997A>G (p.Ser999=)
c.2994A>G (p.Ser998=)
c.2805A>G (p.Ser935=)
c.654A>G (p.Ser218=)
n.414A>G
c.2865A>G (p.Ser955=)
n.7214A>G
n.427A>G
n.969A>G
c.2895A>G (p.Ser965=)
c.2808A>G (p.Ser936=)
c.1767A>G (p.Ser589=)
17g.46032140T>GCA500371981KANSL1c.2997A>C (p.Ser999=)
c.2994A>C (p.Ser998=)
c.2805A>C (p.Ser935=)
c.654A>C (p.Ser218=)
n.414A>C
c.2865A>C (p.Ser955=)
n.7214A>C
n.427A>C
n.969A>C
c.2895A>C (p.Ser965=)
c.2808A>C (p.Ser936=)
c.1767A>C (p.Ser589=)
17g.46032141G>ACA399986632KANSL1c.2996C>T (p.Ser999Leu)
c.2993C>T (p.Ser998Leu)
c.2804C>T (p.Ser935Leu)
c.653C>T (p.Ser218Leu)
n.413C>T
c.2864C>T (p.Ser955Leu)
n.7213C>T
n.426C>T
n.968C>T
c.2894C>T (p.Ser965Leu)
c.2807C>T (p.Ser936Leu)
c.1766C>T (p.Ser589Leu)
17g.46032141G>CCA399986635KANSL1c.2996C>G (p.Ser999Ter)
c.2993C>G (p.Ser998Ter)
c.2804C>G (p.Ser935Ter)
c.653C>G (p.Ser218Ter)
n.413C>G
c.2864C>G (p.Ser955Ter)
n.7213C>G
n.426C>G
n.968C>G
c.2894C>G (p.Ser965Ter)
c.2807C>G (p.Ser936Ter)
c.1766C>G (p.Ser589Ter)
 COSMIC
17g.46032141G>TCA399986639KANSL1c.2996C>A (p.Ser999Ter)
c.2993C>A (p.Ser998Ter)
c.2804C>A (p.Ser935Ter)
c.653C>A (p.Ser218Ter)
n.413C>A
c.2864C>A (p.Ser955Ter)
n.7213C>A
n.426C>A
n.968C>A
c.2894C>A (p.Ser965Ter)
c.2807C>A (p.Ser936Ter)
c.1766C>A (p.Ser589Ter)
17g.46032142A>CCA399986649KANSL1c.2995T>G (p.Ser999Ala)
c.2992T>G (p.Ser998Ala)
c.2803T>G (p.Ser935Ala)
c.652T>G (p.Ser218Ala)
n.412T>G
c.2863T>G (p.Ser955Ala)
n.7212T>G
n.425T>G
n.967T>G
c.2893T>G (p.Ser965Ala)
c.2806T>G (p.Ser936Ala)
c.1765T>G (p.Ser589Ala)
17g.46032142A>GCA399986644KANSL1c.2995T>C (p.Ser999Pro)
c.2992T>C (p.Ser998Pro)
c.2803T>C (p.Ser935Pro)
c.652T>C (p.Ser218Pro)
n.412T>C
c.2863T>C (p.Ser955Pro)
n.7212T>C
n.425T>C
n.967T>C
c.2893T>C (p.Ser965Pro)
c.2806T>C (p.Ser936Pro)
c.1765T>C (p.Ser589Pro)
 gnomAD v4
17g.46032142A>TCA399986647KANSL1c.2995T>A (p.Ser999Thr)
c.2992T>A (p.Ser998Thr)
c.2803T>A (p.Ser935Thr)
c.652T>A (p.Ser218Thr)
n.412T>A
c.2863T>A (p.Ser955Thr)
n.7212T>A
n.425T>A
n.967T>A
c.2893T>A (p.Ser965Thr)
c.2806T>A (p.Ser936Thr)
c.1765T>A (p.Ser589Thr)
17g.46032143G>ACA500371983KANSL1c.2994C>T (p.His998=)
c.2991C>T (p.His997=)
c.2802C>T (p.His934=)
c.651C>T (p.His217=)
n.411C>T
c.2862C>T (p.His954=)
n.7211C>T
n.424C>T
n.966C>T
c.2892C>T (p.His964=)
c.2805C>T (p.His935=)
c.1764C>T (p.His588=)
 ClinVar dbSNP
17g.46032143G>CCA399986653KANSL1c.2994C>G (p.His998Gln)
c.2991C>G (p.His997Gln)
c.2802C>G (p.His934Gln)
c.651C>G (p.His217Gln)
n.411C>G
c.2862C>G (p.His954Gln)
n.7211C>G
n.424C>G
n.966C>G
c.2892C>G (p.His964Gln)
c.2805C>G (p.His935Gln)
c.1764C>G (p.His588Gln)
17g.46032143G=CA2262111021KANSL1c.2994C= (p.His998=)
c.2991C= (p.His997=)
c.2802C= (p.His934=)
c.651C= (p.His217=)
n.411C=
c.2862C= (p.His954=)
n.7211C=
n.424C=
n.966C=
c.2892C= (p.His964=)
c.2805C= (p.His935=)
c.1764C= (p.His588=)
17g.46032143G>TCA399986656KANSL1c.2994C>A (p.His998Gln)
c.2991C>A (p.His997Gln)
c.2802C>A (p.His934Gln)
c.651C>A (p.His217Gln)
n.411C>A
c.2862C>A (p.His954Gln)
n.7211C>A
n.424C>A
n.966C>A
c.2892C>A (p.His964Gln)
c.2805C>A (p.His935Gln)
c.1764C>A (p.His588Gln)
17g.46032144T>ACA399986659KANSL1c.2993A>T (p.His998Leu)
c.2990A>T (p.His997Leu)
c.2801A>T (p.His934Leu)
c.650A>T (p.His217Leu)
n.410A>T
c.2861A>T (p.His954Leu)
n.7210A>T
n.423A>T
n.965A>T
c.2891A>T (p.His964Leu)
c.2804A>T (p.His935Leu)
c.1763A>T (p.His588Leu)
17g.46032144T>CCA399986662KANSL1c.2993A>G (p.His998Arg)
c.2990A>G (p.His997Arg)
c.2801A>G (p.His934Arg)
c.650A>G (p.His217Arg)
n.410A>G
c.2861A>G (p.His954Arg)
n.7210A>G
n.423A>G
n.965A>G
c.2891A>G (p.His964Arg)
c.2804A>G (p.His935Arg)
c.1763A>G (p.His588Arg)
 ClinVar
17g.46032144T>GCA399986664KANSL1c.2993A>C (p.His998Pro)
c.2990A>C (p.His997Pro)
c.2801A>C (p.His934Pro)
c.650A>C (p.His217Pro)
n.410A>C
c.2861A>C (p.His954Pro)
n.7210A>C
n.423A>C
n.965A>C
c.2891A>C (p.His964Pro)
c.2804A>C (p.His935Pro)
c.1763A>C (p.His588Pro)
17g.46032145G>ACA399986668KANSL1c.2992C>T (p.His998Tyr)
c.2989C>T (p.His997Tyr)
c.2800C>T (p.His934Tyr)
c.649C>T (p.His217Tyr)
n.409C>T
c.2860C>T (p.His954Tyr)
n.7209C>T
n.422C>T
n.964C>T
c.2890C>T (p.His964Tyr)
c.2803C>T (p.His935Tyr)
c.1762C>T (p.His588Tyr)
 dbSNP gnomAD v2
17g.46032145G>CCA399986670KANSL1c.2992C>G (p.His998Asp)
c.2989C>G (p.His997Asp)
c.2800C>G (p.His934Asp)
c.649C>G (p.His217Asp)
n.409C>G
c.2860C>G (p.His954Asp)
n.7209C>G
n.422C>G
n.964C>G
c.2890C>G (p.His964Asp)
c.2803C>G (p.His935Asp)
c.1762C>G (p.His588Asp)
17g.46032145G=CA2262111022KANSL1c.2992C= (p.His998=)
c.2989C= (p.His997=)
c.2800C= (p.His934=)
c.649C= (p.His217=)
n.409C=
c.2860C= (p.His954=)
n.7209C=
n.422C=
n.964C=
c.2890C= (p.His964=)
c.2803C= (p.His935=)
c.1762C= (p.His588=)
17g.46032145G>TCA399986673KANSL1c.2992C>A (p.His998Asn)
c.2989C>A (p.His997Asn)
c.2800C>A (p.His934Asn)
c.649C>A (p.His217Asn)
n.409C>A
c.2860C>A (p.His954Asn)
n.7209C>A
n.422C>A
n.964C>A
c.2890C>A (p.His964Asn)
c.2803C>A (p.His935Asn)
c.1762C>A (p.His588Asn)

Number of alleles fetched