Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched