Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.46031555G>ACA8618338KANSL1c.3239C>T (p.Pro1080Leu)
c.3236C>T (p.Pro1079Leu)
c.3047C>T (p.Pro1016Leu)
c.3107C>T (p.Pro1036Leu)
n.7456C>T
n.1012C>T
n.1211C>T
c.3137C>T (p.Pro1046Leu)
c.3050C>T (p.Pro1017Leu)
c.2009C>T (p.Pro670Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031555G>CCA399985759KANSL1c.3239C>G (p.Pro1080Arg)
c.3236C>G (p.Pro1079Arg)
c.3047C>G (p.Pro1016Arg)
c.3107C>G (p.Pro1036Arg)
n.7456C>G
n.1012C>G
n.1211C>G
c.3137C>G (p.Pro1046Arg)
c.3050C>G (p.Pro1017Arg)
c.2009C>G (p.Pro670Arg)
17g.46031555G=CA2262110737KANSL1c.3239C= (p.Pro1080=)
c.3236C= (p.Pro1079=)
c.3047C= (p.Pro1016=)
c.3107C= (p.Pro1036=)
n.7456C=
n.1012C=
n.1211C=
c.3137C= (p.Pro1046=)
c.3050C= (p.Pro1017=)
c.2009C= (p.Pro670=)
17g.46031555G>TCA399985761KANSL1c.3239C>A (p.Pro1080His)
c.3236C>A (p.Pro1079His)
c.3047C>A (p.Pro1016His)
c.3107C>A (p.Pro1036His)
n.7456C>A
n.1012C>A
n.1211C>A
c.3137C>A (p.Pro1046His)
c.3050C>A (p.Pro1017His)
c.2009C>A (p.Pro670His)
17g.46031556G>ACA8618339KANSL1c.3238C>T (p.Pro1080Ser)
c.3235C>T (p.Pro1079Ser)
c.3046C>T (p.Pro1016Ser)
c.3106C>T (p.Pro1036Ser)
n.7455C>T
n.1011C>T
n.1210C>T
c.3136C>T (p.Pro1046Ser)
c.3049C>T (p.Pro1017Ser)
c.2008C>T (p.Pro670Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031556G>CCA399985765KANSL1c.3238C>G (p.Pro1080Ala)
c.3235C>G (p.Pro1079Ala)
c.3046C>G (p.Pro1016Ala)
c.3106C>G (p.Pro1036Ala)
n.7455C>G
n.1011C>G
n.1210C>G
c.3136C>G (p.Pro1046Ala)
c.3049C>G (p.Pro1017Ala)
c.2008C>G (p.Pro670Ala)
17g.46031556G=CA2262110738KANSL1c.3238C= (p.Pro1080=)
c.3235C= (p.Pro1079=)
c.3046C= (p.Pro1016=)
c.3106C= (p.Pro1036=)
n.7455C=
n.1011C=
n.1210C=
c.3136C= (p.Pro1046=)
c.3049C= (p.Pro1017=)
c.2008C= (p.Pro670=)
17g.46031556G>TCA399985767KANSL1c.3238C>A (p.Pro1080Thr)
c.3235C>A (p.Pro1079Thr)
c.3046C>A (p.Pro1016Thr)
c.3106C>A (p.Pro1036Thr)
n.7455C>A
n.1011C>A
n.1210C>A
c.3136C>A (p.Pro1046Thr)
c.3049C>A (p.Pro1017Thr)
c.2008C>A (p.Pro670Thr)
17g.46031558_46031559dupCA2809640614KANSL1c.3237_3238dup (p.Pro1080ArgfsTer?)
c.3234_3235dup (p.Pro1079ArgfsTer?)
c.3045_3046dup (p.Pro1016ArgfsTer?)
c.3105_3106dup (p.Pro1036ArgfsTer?)
n.7454_7455dup
n.1010_1011dup
n.1209_1210dup
c.3135_3136dup (p.Pro1046ArgfsTer?)
c.3048_3049dup (p.Pro1017ArgfsTer?)
c.2007_2008dup (p.Pro670ArgfsTer?)
17g.46031557C>ACA500371639KANSL1c.3237G>T (p.Ala1079=)
c.3234G>T (p.Ala1078=)
c.3045G>T (p.Ala1015=)
c.3105G>T (p.Ala1035=)
n.7454G>T
n.1010G>T
n.1209G>T
c.3135G>T (p.Ala1045=)
c.3048G>T (p.Ala1016=)
c.2007G>T (p.Ala669=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46031557C=CA2262110739KANSL1c.3237G= (p.Ala1079=)
c.3234G= (p.Ala1078=)
c.3045G= (p.Ala1015=)
c.3105G= (p.Ala1035=)
n.7454G=
n.1010G=
n.1209G=
c.3135G= (p.Ala1045=)
c.3048G= (p.Ala1016=)
c.2007G= (p.Ala669=)
17g.46031557C>GCA500371640KANSL1c.3237G>C (p.Ala1079=)
c.3234G>C (p.Ala1078=)
c.3045G>C (p.Ala1015=)
c.3105G>C (p.Ala1035=)
n.7454G>C
n.1010G>C
n.1209G>C
c.3135G>C (p.Ala1045=)
c.3048G>C (p.Ala1016=)
c.2007G>C (p.Ala669=)
17g.46031557C>TCA8618340KANSL1c.3237G>A (p.Ala1079=)
c.3234G>A (p.Ala1078=)
c.3045G>A (p.Ala1015=)
c.3105G>A (p.Ala1035=)
n.7454G>A
n.1010G>A
n.1209G>A
c.3135G>A (p.Ala1045=)
c.3048G>A (p.Ala1016=)
c.2007G>A (p.Ala669=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.46031558G>ACA8618341KANSL1c.3236C>T (p.Ala1079Val)
c.3233C>T (p.Ala1078Val)
c.3044C>T (p.Ala1015Val)
c.3104C>T (p.Ala1035Val)
n.7453C>T
n.1009C>T
n.1208C>T
c.3134C>T (p.Ala1045Val)
c.3047C>T (p.Ala1016Val)
c.2006C>T (p.Ala669Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031558G>CCA399985771KANSL1c.3236C>G (p.Ala1079Gly)
c.3233C>G (p.Ala1078Gly)
c.3044C>G (p.Ala1015Gly)
c.3104C>G (p.Ala1035Gly)
n.7453C>G
n.1009C>G
n.1208C>G
c.3134C>G (p.Ala1045Gly)
c.3047C>G (p.Ala1016Gly)
c.2006C>G (p.Ala669Gly)
17g.46031558G=CA2262110740KANSL1c.3236C= (p.Ala1079=)
c.3233C= (p.Ala1078=)
c.3044C= (p.Ala1015=)
c.3104C= (p.Ala1035=)
n.7453C=
n.1009C=
n.1208C=
c.3134C= (p.Ala1045=)
c.3047C= (p.Ala1016=)
c.2006C= (p.Ala669=)
17g.46031558G>TCA399985774KANSL1c.3236C>A (p.Ala1079Glu)
c.3233C>A (p.Ala1078Glu)
c.3044C>A (p.Ala1015Glu)
c.3104C>A (p.Ala1035Glu)
n.7453C>A
n.1009C>A
n.1208C>A
c.3134C>A (p.Ala1045Glu)
c.3047C>A (p.Ala1016Glu)
c.2006C>A (p.Ala669Glu)
17g.46031559C>ACA399985777KANSL1c.3235G>T (p.Ala1079Ser)
c.3232G>T (p.Ala1078Ser)
c.3043G>T (p.Ala1015Ser)
c.3103G>T (p.Ala1035Ser)
n.7452G>T
n.1008G>T
n.1207G>T
c.3133G>T (p.Ala1045Ser)
c.3046G>T (p.Ala1016Ser)
c.2005G>T (p.Ala669Ser)
17g.46031559C=CA2262110741KANSL1c.3235G= (p.Ala1079=)
c.3232G= (p.Ala1078=)
c.3043G= (p.Ala1015=)
c.3103G= (p.Ala1035=)
n.7452G=
n.1008G=
n.1207G=
c.3133G= (p.Ala1045=)
c.3046G= (p.Ala1016=)
c.2005G= (p.Ala669=)
17g.46031559C>GCA399985779KANSL1c.3235G>C (p.Ala1079Pro)
c.3232G>C (p.Ala1078Pro)
c.3043G>C (p.Ala1015Pro)
c.3103G>C (p.Ala1035Pro)
n.7452G>C
n.1008G>C
n.1207G>C
c.3133G>C (p.Ala1045Pro)
c.3046G>C (p.Ala1016Pro)
c.2005G>C (p.Ala669Pro)
17g.46031559C>TCA291125308KANSL1c.3235G>A (p.Ala1079Thr)
c.3232G>A (p.Ala1078Thr)
c.3043G>A (p.Ala1015Thr)
c.3103G>A (p.Ala1035Thr)
n.7452G>A
n.1008G>A
n.1207G>A
c.3133G>A (p.Ala1045Thr)
c.3046G>A (p.Ala1016Thr)
c.2005G>A (p.Ala669Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46031560T>ACA500371642KANSL1c.3234A>T (p.Ala1078=)
c.3231A>T (p.Ala1077=)
c.3042A>T (p.Ala1014=)
c.3102A>T (p.Ala1034=)
n.7451A>T
n.1007A>T
n.1206A>T
c.3132A>T (p.Ala1044=)
c.3045A>T (p.Ala1015=)
c.2004A>T (p.Ala668=)
gnomAD v4
17g.46031560T>CCA500371643KANSL1c.3234A>G (p.Ala1078=)
c.3231A>G (p.Ala1077=)
c.3042A>G (p.Ala1014=)
c.3102A>G (p.Ala1034=)
n.7451A>G
n.1007A>G
n.1206A>G
c.3132A>G (p.Ala1044=)
c.3045A>G (p.Ala1015=)
c.2004A>G (p.Ala668=)
gnomAD v4
17g.46031560T>GCA500371641KANSL1c.3234A>C (p.Ala1078=)
c.3231A>C (p.Ala1077=)
c.3042A>C (p.Ala1014=)
c.3102A>C (p.Ala1034=)
n.7451A>C
n.1007A>C
n.1206A>C
c.3132A>C (p.Ala1044=)
c.3045A>C (p.Ala1015=)
c.2004A>C (p.Ala668=)
17g.46031561G>ACA8618342KANSL1c.3233C>T (p.Ala1078Val)
c.3230C>T (p.Ala1077Val)
c.3041C>T (p.Ala1014Val)
c.3101C>T (p.Ala1034Val)
n.7450C>T
n.1006C>T
n.1205C>T
c.3131C>T (p.Ala1044Val)
c.3044C>T (p.Ala1015Val)
c.2003C>T (p.Ala668Val)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031561G>CCA399985787KANSL1c.3233C>G (p.Ala1078Gly)
c.3230C>G (p.Ala1077Gly)
c.3041C>G (p.Ala1014Gly)
c.3101C>G (p.Ala1034Gly)
n.7450C>G
n.1006C>G
n.1205C>G
c.3131C>G (p.Ala1044Gly)
c.3044C>G (p.Ala1015Gly)
c.2003C>G (p.Ala668Gly)
17g.46031561G=CA2262110742KANSL1c.3233C= (p.Ala1078=)
c.3230C= (p.Ala1077=)
c.3041C= (p.Ala1014=)
c.3101C= (p.Ala1034=)
n.7450C=
n.1006C=
n.1205C=
c.3131C= (p.Ala1044=)
c.3044C= (p.Ala1015=)
c.2003C= (p.Ala668=)
17g.46031561G>TCA399985784KANSL1c.3233C>A (p.Ala1078Glu)
c.3230C>A (p.Ala1077Glu)
c.3041C>A (p.Ala1014Glu)
c.3101C>A (p.Ala1034Glu)
n.7450C>A
n.1006C>A
n.1205C>A
c.3131C>A (p.Ala1044Glu)
c.3044C>A (p.Ala1015Glu)
c.2003C>A (p.Ala668Glu)
17g.46031562C>ACA399985790KANSL1c.3232G>T (p.Ala1078Ser)
c.3229G>T (p.Ala1077Ser)
c.3040G>T (p.Ala1014Ser)
c.3100G>T (p.Ala1034Ser)
n.7449G>T
n.1005G>T
n.1204G>T
c.3130G>T (p.Ala1044Ser)
c.3043G>T (p.Ala1015Ser)
c.2002G>T (p.Ala668Ser)
17g.46031562C>GCA399985792KANSL1c.3232G>C (p.Ala1078Pro)
c.3229G>C (p.Ala1077Pro)
c.3040G>C (p.Ala1014Pro)
c.3100G>C (p.Ala1034Pro)
n.7449G>C
n.1005G>C
n.1204G>C
c.3130G>C (p.Ala1044Pro)
c.3043G>C (p.Ala1015Pro)
c.2002G>C (p.Ala668Pro)
17g.46031562C>TCA399985794KANSL1c.3232G>A (p.Ala1078Thr)
c.3229G>A (p.Ala1077Thr)
c.3040G>A (p.Ala1014Thr)
c.3100G>A (p.Ala1034Thr)
n.7449G>A
n.1005G>A
n.1204G>A
c.3130G>A (p.Ala1044Thr)
c.3043G>A (p.Ala1015Thr)
c.2002G>A (p.Ala668Thr)
17g.46031563C>ACA399985796KANSL1c.3231G>T (p.Glu1077Asp)
c.3228G>T (p.Glu1076Asp)
c.3039G>T (p.Glu1013Asp)
c.3099G>T (p.Glu1033Asp)
n.7448G>T
n.1004G>T
n.1203G>T
c.3129G>T (p.Glu1043Asp)
c.3042G>T (p.Glu1014Asp)
c.2001G>T (p.Glu667Asp)
17g.46031563C>GCA399985798KANSL1c.3231G>C (p.Glu1077Asp)
c.3228G>C (p.Glu1076Asp)
c.3039G>C (p.Glu1013Asp)
c.3099G>C (p.Glu1033Asp)
n.7448G>C
n.1004G>C
n.1203G>C
c.3129G>C (p.Glu1043Asp)
c.3042G>C (p.Glu1014Asp)
c.2001G>C (p.Glu667Asp)
17g.46031563C>TCA500371644KANSL1c.3231G>A (p.Glu1077=)
c.3228G>A (p.Glu1076=)
c.3039G>A (p.Glu1013=)
c.3099G>A (p.Glu1033=)
n.7448G>A
n.1004G>A
n.1203G>A
c.3129G>A (p.Glu1043=)
c.3042G>A (p.Glu1014=)
c.2001G>A (p.Glu667=)
gnomAD v4
17g.46031565_46031566delCA2638370827KANSL1c.3230_3231del (p.Glu1077GlyfsTer?)
c.3227_3228del (p.Glu1076GlyfsTer?)
c.3038_3039del (p.Glu1013GlyfsTer?)
c.3098_3099del (p.Glu1033GlyfsTer?)
n.7447_7448del
n.1003_1004del
n.1202_1203del
c.3128_3129del (p.Glu1043GlyfsTer?)
c.3041_3042del (p.Glu1014GlyfsTer?)
c.2000_2001del (p.Glu667GlyfsTer?)
gnomAD v4
17g.46031564T>ACA8618343KANSL1c.3230A>T (p.Glu1077Val)
c.3227A>T (p.Glu1076Val)
c.3038A>T (p.Glu1013Val)
c.3098A>T (p.Glu1033Val)
n.7447A>T
n.1003A>T
n.1202A>T
c.3128A>T (p.Glu1043Val)
c.3041A>T (p.Glu1014Val)
c.2000A>T (p.Glu667Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031564T>CCA399985802KANSL1c.3230A>G (p.Glu1077Gly)
c.3227A>G (p.Glu1076Gly)
c.3038A>G (p.Glu1013Gly)
c.3098A>G (p.Glu1033Gly)
n.7447A>G
n.1003A>G
n.1202A>G
c.3128A>G (p.Glu1043Gly)
c.3041A>G (p.Glu1014Gly)
c.2000A>G (p.Glu667Gly)
dbSNP gnomAD v2 gnomAD v4
17g.46031564T>GCA399985804KANSL1c.3230A>C (p.Glu1077Ala)
c.3227A>C (p.Glu1076Ala)
c.3038A>C (p.Glu1013Ala)
c.3098A>C (p.Glu1033Ala)
n.7447A>C
n.1003A>C
n.1202A>C
c.3128A>C (p.Glu1043Ala)
c.3041A>C (p.Glu1014Ala)
c.2000A>C (p.Glu667Ala)
17g.46031564T=CA2262110743KANSL1c.3230A= (p.Glu1077=)
c.3227A= (p.Glu1076=)
c.3038A= (p.Glu1013=)
c.3098A= (p.Glu1033=)
n.7447A=
n.1003A=
n.1202A=
c.3128A= (p.Glu1043=)
c.3041A= (p.Glu1014=)
c.2000A= (p.Glu667=)
17g.46031565C>ACA399985806KANSL1c.3229G>T (p.Glu1077Ter)
c.3226G>T (p.Glu1076Ter)
c.3037G>T (p.Glu1013Ter)
c.3097G>T (p.Glu1033Ter)
n.7446G>T
n.1002G>T
n.1201G>T
c.3127G>T (p.Glu1043Ter)
c.3040G>T (p.Glu1014Ter)
c.1999G>T (p.Glu667Ter)
17g.46031565C>GCA399985808KANSL1c.3229G>C (p.Glu1077Gln)
c.3226G>C (p.Glu1076Gln)
c.3037G>C (p.Glu1013Gln)
c.3097G>C (p.Glu1033Gln)
n.7446G>C
n.1002G>C
n.1201G>C
c.3127G>C (p.Glu1043Gln)
c.3040G>C (p.Glu1014Gln)
c.1999G>C (p.Glu667Gln)
17g.46031565C>TCA399985810KANSL1c.3229G>A (p.Glu1077Lys)
c.3226G>A (p.Glu1076Lys)
c.3037G>A (p.Glu1013Lys)
c.3097G>A (p.Glu1033Lys)
n.7446G>A
n.1002G>A
n.1201G>A
c.3127G>A (p.Glu1043Lys)
c.3040G>A (p.Glu1014Lys)
c.1999G>A (p.Glu667Lys)
17g.46031566T>ACA500371646KANSL1c.3228A>T (p.Thr1076=)
c.3225A>T (p.Thr1075=)
c.3036A>T (p.Thr1012=)
c.3096A>T (p.Thr1032=)
n.7445A>T
n.1001A>T
n.1200A>T
c.3126A>T (p.Thr1042=)
c.3039A>T (p.Thr1013=)
c.1998A>T (p.Thr666=)
17g.46031566T>CCA500371645KANSL1c.3228A>G (p.Thr1076=)
c.3225A>G (p.Thr1075=)
c.3036A>G (p.Thr1012=)
c.3096A>G (p.Thr1032=)
n.7445A>G
n.1001A>G
n.1200A>G
c.3126A>G (p.Thr1042=)
c.3039A>G (p.Thr1013=)
c.1998A>G (p.Thr666=)
gnomAD v4
17g.46031566T>GCA500371647KANSL1c.3228A>C (p.Thr1076=)
c.3225A>C (p.Thr1075=)
c.3036A>C (p.Thr1012=)
c.3096A>C (p.Thr1032=)
n.7445A>C
n.1001A>C
n.1200A>C
c.3126A>C (p.Thr1042=)
c.3039A>C (p.Thr1013=)
c.1998A>C (p.Thr666=)
gnomAD v4
17g.46031567G>ACA399985816KANSL1c.3227C>T (p.Thr1076Ile)
c.3224C>T (p.Thr1075Ile)
c.3035C>T (p.Thr1012Ile)
c.3095C>T (p.Thr1032Ile)
n.7444C>T
n.1000C>T
n.1199C>T
c.3125C>T (p.Thr1042Ile)
c.3038C>T (p.Thr1013Ile)
c.1997C>T (p.Thr666Ile)
17g.46031567G>CCA399985817KANSL1c.3227C>G (p.Thr1076Arg)
c.3224C>G (p.Thr1075Arg)
c.3035C>G (p.Thr1012Arg)
c.3095C>G (p.Thr1032Arg)
n.7444C>G
n.1000C>G
n.1199C>G
c.3125C>G (p.Thr1042Arg)
c.3038C>G (p.Thr1013Arg)
c.1997C>G (p.Thr666Arg)
dbSNP
17g.46031567G=CA2262110744KANSL1c.3227C= (p.Thr1076=)
c.3224C= (p.Thr1075=)
c.3035C= (p.Thr1012=)
c.3095C= (p.Thr1032=)
n.7444C=
n.1000C=
n.1199C=
c.3125C= (p.Thr1042=)
c.3038C= (p.Thr1013=)
c.1997C= (p.Thr666=)
17g.46031567G>TCA399985813KANSL1c.3227C>A (p.Thr1076Lys)
c.3224C>A (p.Thr1075Lys)
c.3035C>A (p.Thr1012Lys)
c.3095C>A (p.Thr1032Lys)
n.7444C>A
n.1000C>A
n.1199C>A
c.3125C>A (p.Thr1042Lys)
c.3038C>A (p.Thr1013Lys)
c.1997C>A (p.Thr666Lys)
17g.46031568T>ACA399985819KANSL1c.3226A>T (p.Thr1076Ser)
c.3223A>T (p.Thr1075Ser)
c.3034A>T (p.Thr1012Ser)
c.3094A>T (p.Thr1032Ser)
n.7443A>T
n.999A>T
n.1198A>T
c.3124A>T (p.Thr1042Ser)
c.3037A>T (p.Thr1013Ser)
c.1996A>T (p.Thr666Ser)
17g.46031568T>CCA399985822KANSL1c.3226A>G (p.Thr1076Ala)
c.3223A>G (p.Thr1075Ala)
c.3034A>G (p.Thr1012Ala)
c.3094A>G (p.Thr1032Ala)
n.7443A>G
n.999A>G
n.1198A>G
c.3124A>G (p.Thr1042Ala)
c.3037A>G (p.Thr1013Ala)
c.1996A>G (p.Thr666Ala)
17g.46031568T>GCA399985824KANSL1c.3226A>C (p.Thr1076Pro)
c.3223A>C (p.Thr1075Pro)
c.3034A>C (p.Thr1012Pro)
c.3094A>C (p.Thr1032Pro)
n.7443A>C
n.999A>C
n.1198A>C
c.3124A>C (p.Thr1042Pro)
c.3037A>C (p.Thr1013Pro)
c.1996A>C (p.Thr666Pro)
17g.46031569C>ACA8618344KANSL1c.3225G>T (p.Glu1075Asp)
c.3222G>T (p.Glu1074Asp)
c.3033G>T (p.Glu1011Asp)
c.3093G>T (p.Glu1031Asp)
n.7442G>T
n.998G>T
n.1197G>T
c.3123G>T (p.Glu1041Asp)
c.3036G>T (p.Glu1012Asp)
c.1995G>T (p.Glu665Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031569C=CA2262110745KANSL1c.3225G= (p.Glu1075=)
c.3222G= (p.Glu1074=)
c.3033G= (p.Glu1011=)
c.3093G= (p.Glu1031=)
n.7442G=
n.998G=
n.1197G=
c.3123G= (p.Glu1041=)
c.3036G= (p.Glu1012=)
c.1995G= (p.Glu665=)
17g.46031569C>GCA399985828KANSL1c.3225G>C (p.Glu1075Asp)
c.3222G>C (p.Glu1074Asp)
c.3033G>C (p.Glu1011Asp)
c.3093G>C (p.Glu1031Asp)
n.7442G>C
n.998G>C
n.1197G>C
c.3123G>C (p.Glu1041Asp)
c.3036G>C (p.Glu1012Asp)
c.1995G>C (p.Glu665Asp)
17g.46031569C>TCA500371648KANSL1c.3225G>A (p.Glu1075=)
c.3222G>A (p.Glu1074=)
c.3033G>A (p.Glu1011=)
c.3093G>A (p.Glu1031=)
n.7442G>A
n.998G>A
n.1197G>A
c.3123G>A (p.Glu1041=)
c.3036G>A (p.Glu1012=)
c.1995G>A (p.Glu665=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46031570T>ACA399985831KANSL1c.3224A>T (p.Glu1075Val)
c.3221A>T (p.Glu1074Val)
c.3032A>T (p.Glu1011Val)
c.3092A>T (p.Glu1031Val)
n.7441A>T
n.997A>T
n.1196A>T
c.3122A>T (p.Glu1041Val)
c.3035A>T (p.Glu1012Val)
c.1994A>T (p.Glu665Val)
17g.46031570T>CCA399985834KANSL1c.3224A>G (p.Glu1075Gly)
c.3221A>G (p.Glu1074Gly)
c.3032A>G (p.Glu1011Gly)
c.3092A>G (p.Glu1031Gly)
n.7441A>G
n.997A>G
n.1196A>G
c.3122A>G (p.Glu1041Gly)
c.3035A>G (p.Glu1012Gly)
c.1994A>G (p.Glu665Gly)
17g.46031570T>GCA8618345KANSL1c.3224A>C (p.Glu1075Ala)
c.3221A>C (p.Glu1074Ala)
c.3032A>C (p.Glu1011Ala)
c.3092A>C (p.Glu1031Ala)
n.7441A>C
n.997A>C
n.1196A>C
c.3122A>C (p.Glu1041Ala)
c.3035A>C (p.Glu1012Ala)
c.1994A>C (p.Glu665Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031570T=CA2262110746KANSL1c.3224A= (p.Glu1075=)
c.3221A= (p.Glu1074=)
c.3032A= (p.Glu1011=)
c.3092A= (p.Glu1031=)
n.7441A=
n.997A=
n.1196A=
c.3122A= (p.Glu1041=)
c.3035A= (p.Glu1012=)
c.1994A= (p.Glu665=)
17g.46031571C>ACA399985838KANSL1c.3223G>T (p.Glu1075Ter)
c.3220G>T (p.Glu1074Ter)
c.3031G>T (p.Glu1011Ter)
c.3091G>T (p.Glu1031Ter)
n.7440G>T
n.996G>T
n.1195G>T
c.3121G>T (p.Glu1041Ter)
c.3034G>T (p.Glu1012Ter)
c.1993G>T (p.Glu665Ter)
17g.46031571C>GCA399985840KANSL1c.3223G>C (p.Glu1075Gln)
c.3220G>C (p.Glu1074Gln)
c.3031G>C (p.Glu1011Gln)
c.3091G>C (p.Glu1031Gln)
n.7440G>C
n.996G>C
n.1195G>C
c.3121G>C (p.Glu1041Gln)
c.3034G>C (p.Glu1012Gln)
c.1993G>C (p.Glu665Gln)
17g.46031571C>TCA399985841KANSL1c.3223G>A (p.Glu1075Lys)
c.3220G>A (p.Glu1074Lys)
c.3031G>A (p.Glu1011Lys)
c.3091G>A (p.Glu1031Lys)
n.7440G>A
n.996G>A
n.1195G>A
c.3121G>A (p.Glu1041Lys)
c.3034G>A (p.Glu1012Lys)
c.1993G>A (p.Glu665Lys)
gnomAD v4
17g.46031572C>ACA500371650KANSL1c.3222G>T (p.Arg1074=)
c.3219G>T (p.Arg1073=)
c.3030G>T (p.Arg1010=)
c.3090G>T (p.Arg1030=)
n.7439G>T
n.995G>T
n.1194G>T
c.3120G>T (p.Arg1040=)
c.3033G>T (p.Arg1011=)
c.1992G>T (p.Arg664=)
17g.46031572C>GCA500371649KANSL1c.3222G>C (p.Arg1074=)
c.3219G>C (p.Arg1073=)
c.3030G>C (p.Arg1010=)
c.3090G>C (p.Arg1030=)
n.7439G>C
n.995G>C
n.1194G>C
c.3120G>C (p.Arg1040=)
c.3033G>C (p.Arg1011=)
c.1992G>C (p.Arg664=)
17g.46031572C>TCA500371651KANSL1c.3222G>A (p.Arg1074=)
c.3219G>A (p.Arg1073=)
c.3030G>A (p.Arg1010=)
c.3090G>A (p.Arg1030=)
n.7439G>A
n.995G>A
n.1194G>A
c.3120G>A (p.Arg1040=)
c.3033G>A (p.Arg1011=)
c.1992G>A (p.Arg664=)
17g.46031573C>ACA399985844KANSL1c.3221G>T (p.Arg1074Leu)
c.3218G>T (p.Arg1073Leu)
c.3029G>T (p.Arg1010Leu)
c.3089G>T (p.Arg1030Leu)
n.7438G>T
n.994G>T
n.1193G>T
c.3119G>T (p.Arg1040Leu)
c.3032G>T (p.Arg1011Leu)
c.1991G>T (p.Arg664Leu)
gnomAD v4
17g.46031573C=CA2262110747KANSL1c.3221G= (p.Arg1074=)
c.3218G= (p.Arg1073=)
c.3029G= (p.Arg1010=)
c.3089G= (p.Arg1030=)
n.7438G=
n.994G=
n.1193G=
c.3119G= (p.Arg1040=)
c.3032G= (p.Arg1011=)
c.1991G= (p.Arg664=)
17g.46031573C>GCA399985846KANSL1c.3221G>C (p.Arg1074Pro)
c.3218G>C (p.Arg1073Pro)
c.3029G>C (p.Arg1010Pro)
c.3089G>C (p.Arg1030Pro)
n.7438G>C
n.994G>C
n.1193G>C
c.3119G>C (p.Arg1040Pro)
c.3032G>C (p.Arg1011Pro)
c.1991G>C (p.Arg664Pro)
17g.46031573C>TCA8618346KANSL1c.3221G>A (p.Arg1074Gln)
c.3218G>A (p.Arg1073Gln)
c.3029G>A (p.Arg1010Gln)
c.3089G>A (p.Arg1030Gln)
n.7438G>A
n.994G>A
n.1193G>A
c.3119G>A (p.Arg1040Gln)
c.3032G>A (p.Arg1011Gln)
c.1991G>A (p.Arg664Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031574G>ACA399985852KANSL1c.3220C>T (p.Arg1074Trp)
c.3217C>T (p.Arg1073Trp)
c.3028C>T (p.Arg1010Trp)
c.3088C>T (p.Arg1030Trp)
n.7437C>T
n.993C>T
n.1192C>T
c.3118C>T (p.Arg1040Trp)
c.3031C>T (p.Arg1011Trp)
c.1990C>T (p.Arg664Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.46031574G>CCA399985850KANSL1c.3220C>G (p.Arg1074Gly)
c.3217C>G (p.Arg1073Gly)
c.3028C>G (p.Arg1010Gly)
c.3088C>G (p.Arg1030Gly)
n.7437C>G
n.993C>G
n.1192C>G
c.3118C>G (p.Arg1040Gly)
c.3031C>G (p.Arg1011Gly)
c.1990C>G (p.Arg664Gly)
17g.46031574G=CA2262110748KANSL1c.3220C= (p.Arg1074=)
c.3217C= (p.Arg1073=)
c.3028C= (p.Arg1010=)
c.3088C= (p.Arg1030=)
n.7437C=
n.993C=
n.1192C=
c.3118C= (p.Arg1040=)
c.3031C= (p.Arg1011=)
c.1990C= (p.Arg664=)
17g.46031574G>TCA500371652KANSL1c.3220C>A (p.Arg1074=)
c.3217C>A (p.Arg1073=)
c.3028C>A (p.Arg1010=)
c.3088C>A (p.Arg1030=)
n.7437C>A
n.993C>A
n.1192C>A
c.3118C>A (p.Arg1040=)
c.3031C>A (p.Arg1011=)
c.1990C>A (p.Arg664=)
17g.46031575G>ACA500371654KANSL1c.3219C>T (p.Gly1073=)
c.3216C>T (p.Gly1072=)
c.3027C>T (p.Gly1009=)
c.3087C>T (p.Gly1029=)
n.7436C>T
n.992C>T
n.1191C>T
c.3117C>T (p.Gly1039=)
c.3030C>T (p.Gly1010=)
c.1989C>T (p.Gly663=)
dbSNP gnomAD v2 gnomAD v4
17g.46031575G>CCA500371655KANSL1c.3219C>G (p.Gly1073=)
c.3216C>G (p.Gly1072=)
c.3027C>G (p.Gly1009=)
c.3087C>G (p.Gly1029=)
n.7436C>G
n.992C>G
n.1191C>G
c.3117C>G (p.Gly1039=)
c.3030C>G (p.Gly1010=)
c.1989C>G (p.Gly663=)
17g.46031575G=CA2262110749KANSL1c.3219C= (p.Gly1073=)
c.3216C= (p.Gly1072=)
c.3027C= (p.Gly1009=)
c.3087C= (p.Gly1029=)
n.7436C=
n.992C=
n.1191C=
c.3117C= (p.Gly1039=)
c.3030C= (p.Gly1010=)
c.1989C= (p.Gly663=)
17g.46031575G>TCA500371653KANSL1c.3219C>A (p.Gly1073=)
c.3216C>A (p.Gly1072=)
c.3027C>A (p.Gly1009=)
c.3087C>A (p.Gly1029=)
n.7436C>A
n.992C>A
n.1191C>A
c.3117C>A (p.Gly1039=)
c.3030C>A (p.Gly1010=)
c.1989C>A (p.Gly663=)
17g.46031576C>ACA399985855KANSL1c.3218G>T (p.Gly1073Val)
c.3215G>T (p.Gly1072Val)
c.3026G>T (p.Gly1009Val)
c.3086G>T (p.Gly1029Val)
n.7435G>T
n.991G>T
n.1190G>T
c.3116G>T (p.Gly1039Val)
c.3029G>T (p.Gly1010Val)
c.1988G>T (p.Gly663Val)
dbSNP gnomAD v4
17g.46031576C=CA2262110750KANSL1c.3218G= (p.Gly1073=)
c.3215G= (p.Gly1072=)
c.3026G= (p.Gly1009=)
c.3086G= (p.Gly1029=)
n.7435G=
n.991G=
n.1190G=
c.3116G= (p.Gly1039=)
c.3029G= (p.Gly1010=)
c.1988G= (p.Gly663=)
17g.46031576C>GCA399985857KANSL1c.3218G>C (p.Gly1073Ala)
c.3215G>C (p.Gly1072Ala)
c.3026G>C (p.Gly1009Ala)
c.3086G>C (p.Gly1029Ala)
n.7435G>C
n.991G>C
n.1190G>C
c.3116G>C (p.Gly1039Ala)
c.3029G>C (p.Gly1010Ala)
c.1988G>C (p.Gly663Ala)
17g.46031576C>TCA8618347KANSL1c.3218G>A (p.Gly1073Asp)
c.3215G>A (p.Gly1072Asp)
c.3026G>A (p.Gly1009Asp)
c.3086G>A (p.Gly1029Asp)
n.7435G>A
n.991G>A
n.1190G>A
c.3116G>A (p.Gly1039Asp)
c.3029G>A (p.Gly1010Asp)
c.1988G>A (p.Gly663Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031577C>ACA399985862KANSL1c.3217G>T (p.Gly1073Cys)
c.3214G>T (p.Gly1072Cys)
c.3025G>T (p.Gly1009Cys)
c.3085G>T (p.Gly1029Cys)
n.7434G>T
n.990G>T
n.1189G>T
c.3115G>T (p.Gly1039Cys)
c.3028G>T (p.Gly1010Cys)
c.1987G>T (p.Gly663Cys)
17g.46031577C>GCA399985863KANSL1c.3217G>C (p.Gly1073Arg)
c.3214G>C (p.Gly1072Arg)
c.3025G>C (p.Gly1009Arg)
c.3085G>C (p.Gly1029Arg)
n.7434G>C
n.990G>C
n.1189G>C
c.3115G>C (p.Gly1039Arg)
c.3028G>C (p.Gly1010Arg)
c.1987G>C (p.Gly663Arg)
gnomAD v4
17g.46031577C>TCA399985866KANSL1c.3217G>A (p.Gly1073Ser)
c.3214G>A (p.Gly1072Ser)
c.3025G>A (p.Gly1009Ser)
c.3085G>A (p.Gly1029Ser)
n.7434G>A
n.990G>A
n.1189G>A
c.3115G>A (p.Gly1039Ser)
c.3028G>A (p.Gly1010Ser)
c.1987G>A (p.Gly663Ser)
17g.46031577_46031578delCA2638370854KANSL1c.3216_3217del (p.Gly1073ProfsTer?)
c.3213_3214del (p.Gly1072ProfsTer?)
c.3024_3025del (p.Gly1009ProfsTer?)
c.3084_3085del (p.Gly1029ProfsTer?)
n.7433_7434del
n.989_990del
n.1188_1189del
c.3114_3115del (p.Gly1039ProfsTer?)
c.3027_3028del (p.Gly1010ProfsTer?)
c.1986_1987del (p.Gly663ProfsTer?)
gnomAD v4
17g.46031578A>CCA500371656KANSL1c.3216T>G (p.Thr1072=)
c.3213T>G (p.Thr1071=)
c.3024T>G (p.Thr1008=)
c.3084T>G (p.Thr1028=)
n.7433T>G
n.989T>G
n.1188T>G
c.3114T>G (p.Thr1038=)
c.3027T>G (p.Thr1009=)
c.1986T>G (p.Thr662=)
17g.46031578A>GCA500371658KANSL1c.3216T>C (p.Thr1072=)
c.3213T>C (p.Thr1071=)
c.3024T>C (p.Thr1008=)
c.3084T>C (p.Thr1028=)
n.7433T>C
n.989T>C
n.1188T>C
c.3114T>C (p.Thr1038=)
c.3027T>C (p.Thr1009=)
c.1986T>C (p.Thr662=)
17g.46031578A>TCA500371657KANSL1c.3216T>A (p.Thr1072=)
c.3213T>A (p.Thr1071=)
c.3024T>A (p.Thr1008=)
c.3084T>A (p.Thr1028=)
n.7433T>A
n.989T>A
n.1188T>A
c.3114T>A (p.Thr1038=)
c.3027T>A (p.Thr1009=)
c.1986T>A (p.Thr662=)
17g.46031579G>ACA16608476KANSL1c.3215C>T (p.Thr1072Ile)
c.3212C>T (p.Thr1071Ile)
c.3023C>T (p.Thr1008Ile)
c.3083C>T (p.Thr1028Ile)
n.7432C>T
n.988C>T
n.1187C>T
c.3113C>T (p.Thr1038Ile)
c.3026C>T (p.Thr1009Ile)
c.1985C>T (p.Thr662Ile)
ClinVar dbSNP
17g.46031579G>CCA399985868KANSL1c.3215C>G (p.Thr1072Ser)
c.3212C>G (p.Thr1071Ser)
c.3023C>G (p.Thr1008Ser)
c.3083C>G (p.Thr1028Ser)
n.7432C>G
n.988C>G
n.1187C>G
c.3113C>G (p.Thr1038Ser)
c.3026C>G (p.Thr1009Ser)
c.1985C>G (p.Thr662Ser)
17g.46031579G=CA2262110751KANSL1c.3215C= (p.Thr1072=)
c.3212C= (p.Thr1071=)
c.3023C= (p.Thr1008=)
c.3083C= (p.Thr1028=)
n.7432C=
n.988C=
n.1187C=
c.3113C= (p.Thr1038=)
c.3026C= (p.Thr1009=)
c.1985C= (p.Thr662=)
17g.46031579G>TCA399985870KANSL1c.3215C>A (p.Thr1072Asn)
c.3212C>A (p.Thr1071Asn)
c.3023C>A (p.Thr1008Asn)
c.3083C>A (p.Thr1028Asn)
n.7432C>A
n.988C>A
n.1187C>A
c.3113C>A (p.Thr1038Asn)
c.3026C>A (p.Thr1009Asn)
c.1985C>A (p.Thr662Asn)
17g.46031580T>ACA399985877KANSL1c.3214A>T (p.Thr1072Ser)
c.3211A>T (p.Thr1071Ser)
c.3022A>T (p.Thr1008Ser)
c.3082A>T (p.Thr1028Ser)
n.7431A>T
n.987A>T
n.1186A>T
c.3112A>T (p.Thr1038Ser)
c.3025A>T (p.Thr1009Ser)
c.1984A>T (p.Thr662Ser)
17g.46031580T>CCA399985879KANSL1c.3214A>G (p.Thr1072Ala)
c.3211A>G (p.Thr1071Ala)
c.3022A>G (p.Thr1008Ala)
c.3082A>G (p.Thr1028Ala)
n.7431A>G
n.987A>G
n.1186A>G
c.3112A>G (p.Thr1038Ala)
c.3025A>G (p.Thr1009Ala)
c.1984A>G (p.Thr662Ala)
17g.46031580T>GCA399985880KANSL1c.3214A>C (p.Thr1072Pro)
c.3211A>C (p.Thr1071Pro)
c.3022A>C (p.Thr1008Pro)
c.3082A>C (p.Thr1028Pro)
n.7431A>C
n.987A>C
n.1186A>C
c.3112A>C (p.Thr1038Pro)
c.3025A>C (p.Thr1009Pro)
c.1984A>C (p.Thr662Pro)
17g.46031581C>ACA399985882KANSL1c.3213G>T (p.Lys1071Asn)
c.3210G>T (p.Lys1070Asn)
c.3021G>T (p.Lys1007Asn)
c.3081G>T (p.Lys1027Asn)
n.7430G>T
n.986G>T
n.1185G>T
c.3111G>T (p.Lys1037Asn)
c.3024G>T (p.Lys1008Asn)
c.1983G>T (p.Lys661Asn)
17g.46031581C=CA2262110752KANSL1c.3213G= (p.Lys1071=)
c.3210G= (p.Lys1070=)
c.3021G= (p.Lys1007=)
c.3081G= (p.Lys1027=)
n.7430G=
n.986G=
n.1185G=
c.3111G= (p.Lys1037=)
c.3024G= (p.Lys1008=)
c.1983G= (p.Lys661=)
17g.46031581C>GCA399985885KANSL1c.3213G>C (p.Lys1071Asn)
c.3210G>C (p.Lys1070Asn)
c.3021G>C (p.Lys1007Asn)
c.3081G>C (p.Lys1027Asn)
n.7430G>C
n.986G>C
n.1185G>C
c.3111G>C (p.Lys1037Asn)
c.3024G>C (p.Lys1008Asn)
c.1983G>C (p.Lys661Asn)
dbSNP gnomAD v2 gnomAD v4
17g.46031581C>TCA500371659KANSL1c.3213G>A (p.Lys1071=)
c.3210G>A (p.Lys1070=)
c.3021G>A (p.Lys1007=)
c.3081G>A (p.Lys1027=)
n.7430G>A
n.986G>A
n.1185G>A
c.3111G>A (p.Lys1037=)
c.3024G>A (p.Lys1008=)
c.1983G>A (p.Lys661=)
gnomAD v4
17g.46031582T>ACA399985891KANSL1c.3212A>T (p.Lys1071Met)
c.3209A>T (p.Lys1070Met)
c.3020A>T (p.Lys1007Met)
c.3080A>T (p.Lys1027Met)
n.7429A>T
n.985A>T
n.1184A>T
c.3110A>T (p.Lys1037Met)
c.3023A>T (p.Lys1008Met)
c.1982A>T (p.Lys661Met)
17g.46031582T>CCA399985888KANSL1c.3212A>G (p.Lys1071Arg)
c.3209A>G (p.Lys1070Arg)
c.3020A>G (p.Lys1007Arg)
c.3080A>G (p.Lys1027Arg)
n.7429A>G
n.985A>G
n.1184A>G
c.3110A>G (p.Lys1037Arg)
c.3023A>G (p.Lys1008Arg)
c.1982A>G (p.Lys661Arg)
dbSNP gnomAD v2 gnomAD v4
17g.46031582T>GCA399985890KANSL1c.3212A>C (p.Lys1071Thr)
c.3209A>C (p.Lys1070Thr)
c.3020A>C (p.Lys1007Thr)
c.3080A>C (p.Lys1027Thr)
n.7429A>C
n.985A>C
n.1184A>C
c.3110A>C (p.Lys1037Thr)
c.3023A>C (p.Lys1008Thr)
c.1982A>C (p.Lys661Thr)
17g.46031582T=CA2262110753KANSL1c.3212A= (p.Lys1071=)
c.3209A= (p.Lys1070=)
c.3020A= (p.Lys1007=)
c.3080A= (p.Lys1027=)
n.7429A=
n.985A=
n.1184A=
c.3110A= (p.Lys1037=)
c.3023A= (p.Lys1008=)
c.1982A= (p.Lys661=)
17g.46031583T>ACA399985895KANSL1c.3211A>T (p.Lys1071Ter)
c.3208A>T (p.Lys1070Ter)
c.3019A>T (p.Lys1007Ter)
c.3079A>T (p.Lys1027Ter)
n.7428A>T
n.984A>T
n.1183A>T
c.3109A>T (p.Lys1037Ter)
c.3022A>T (p.Lys1008Ter)
c.1981A>T (p.Lys661Ter)
17g.46031583T>CCA399985897KANSL1c.3211A>G (p.Lys1071Glu)
c.3208A>G (p.Lys1070Glu)
c.3019A>G (p.Lys1007Glu)
c.3079A>G (p.Lys1027Glu)
n.7428A>G
n.984A>G
n.1183A>G
c.3109A>G (p.Lys1037Glu)
c.3022A>G (p.Lys1008Glu)
c.1981A>G (p.Lys661Glu)
17g.46031583T>GCA399985899KANSL1c.3211A>C (p.Lys1071Gln)
c.3208A>C (p.Lys1070Gln)
c.3019A>C (p.Lys1007Gln)
c.3079A>C (p.Lys1027Gln)
n.7428A>C
n.984A>C
n.1183A>C
c.3109A>C (p.Lys1037Gln)
c.3022A>C (p.Lys1008Gln)
c.1981A>C (p.Lys661Gln)
17g.46031584G>ACA500371660KANSL1c.3210C>T (p.Ser1070=)
c.3207C>T (p.Ser1069=)
c.3018C>T (p.Ser1006=)
c.3078C>T (p.Ser1026=)
n.7427C>T
n.983C>T
n.1182C>T
c.3108C>T (p.Ser1036=)
c.3021C>T (p.Ser1007=)
c.1980C>T (p.Ser660=)
gnomAD v4
17g.46031584G>CCA399985902KANSL1c.3210C>G (p.Ser1070Arg)
c.3207C>G (p.Ser1069Arg)
c.3018C>G (p.Ser1006Arg)
c.3078C>G (p.Ser1026Arg)
n.7427C>G
n.983C>G
n.1182C>G
c.3108C>G (p.Ser1036Arg)
c.3021C>G (p.Ser1007Arg)
c.1980C>G (p.Ser660Arg)
17g.46031584G>TCA399985911KANSL1c.3210C>A (p.Ser1070Arg)
c.3207C>A (p.Ser1069Arg)
c.3018C>A (p.Ser1006Arg)
c.3078C>A (p.Ser1026Arg)
n.7427C>A
n.983C>A
n.1182C>A
c.3108C>A (p.Ser1036Arg)
c.3021C>A (p.Ser1007Arg)
c.1980C>A (p.Ser660Arg)
17g.46031585C>ACA399985920KANSL1c.3209G>T (p.Ser1070Ile)
c.3206G>T (p.Ser1069Ile)
c.3017G>T (p.Ser1006Ile)
c.3077G>T (p.Ser1026Ile)
n.7426G>T
n.982G>T
n.1181G>T
c.3107G>T (p.Ser1036Ile)
c.3020G>T (p.Ser1007Ile)
c.1979G>T (p.Ser660Ile)
COSMIC
17g.46031585C>GCA399985918KANSL1c.3209G>C (p.Ser1070Thr)
c.3206G>C (p.Ser1069Thr)
c.3017G>C (p.Ser1006Thr)
c.3077G>C (p.Ser1026Thr)
n.7426G>C
n.982G>C
n.1181G>C
c.3107G>C (p.Ser1036Thr)
c.3020G>C (p.Ser1007Thr)
c.1979G>C (p.Ser660Thr)
17g.46031585C>TCA399985915KANSL1c.3209G>A (p.Ser1070Asn)
c.3206G>A (p.Ser1069Asn)
c.3017G>A (p.Ser1006Asn)
c.3077G>A (p.Ser1026Asn)
n.7426G>A
n.982G>A
n.1181G>A
c.3107G>A (p.Ser1036Asn)
c.3020G>A (p.Ser1007Asn)
c.1979G>A (p.Ser660Asn)
17g.46031586T>ACA399985923KANSL1c.3208A>T (p.Ser1070Cys)
c.3205A>T (p.Ser1069Cys)
c.3016A>T (p.Ser1006Cys)
c.3076A>T (p.Ser1026Cys)
n.7425A>T
n.981A>T
n.1180A>T
c.3106A>T (p.Ser1036Cys)
c.3019A>T (p.Ser1007Cys)
c.1978A>T (p.Ser660Cys)
17g.46031586T>CCA399985925KANSL1c.3208A>G (p.Ser1070Gly)
c.3205A>G (p.Ser1069Gly)
c.3016A>G (p.Ser1006Gly)
c.3076A>G (p.Ser1026Gly)
n.7425A>G
n.981A>G
n.1180A>G
c.3106A>G (p.Ser1036Gly)
c.3019A>G (p.Ser1007Gly)
c.1978A>G (p.Ser660Gly)
17g.46031586T>GCA399985927KANSL1c.3208A>C (p.Ser1070Arg)
c.3205A>C (p.Ser1069Arg)
c.3016A>C (p.Ser1006Arg)
c.3076A>C (p.Ser1026Arg)
n.7425A>C
n.981A>C
n.1180A>C
c.3106A>C (p.Ser1036Arg)
c.3019A>C (p.Ser1007Arg)
c.1978A>C (p.Ser660Arg)
17g.46031587G>ACA500371663KANSL1c.3207C>T (p.Gly1069=)
c.3204C>T (p.Gly1068=)
c.3015C>T (p.Gly1005=)
c.3075C>T (p.Gly1025=)
n.7424C>T
n.980C>T
n.1179C>T
c.3105C>T (p.Gly1035=)
c.3018C>T (p.Gly1006=)
c.1977C>T (p.Gly659=)
17g.46031587G>CCA500371662KANSL1c.3207C>G (p.Gly1069=)
c.3204C>G (p.Gly1068=)
c.3015C>G (p.Gly1005=)
c.3075C>G (p.Gly1025=)
n.7424C>G
n.980C>G
n.1179C>G
c.3105C>G (p.Gly1035=)
c.3018C>G (p.Gly1006=)
c.1977C>G (p.Gly659=)
17g.46031587G>TCA500371661KANSL1c.3207C>A (p.Gly1069=)
c.3204C>A (p.Gly1068=)
c.3015C>A (p.Gly1005=)
c.3075C>A (p.Gly1025=)
n.7424C>A
n.980C>A
n.1179C>A
c.3105C>A (p.Gly1035=)
c.3018C>A (p.Gly1006=)
c.1977C>A (p.Gly659=)
gnomAD v4
17g.46031588C>ACA399985933KANSL1c.3206G>T (p.Gly1069Val)
c.3203G>T (p.Gly1068Val)
c.3014G>T (p.Gly1005Val)
c.3074G>T (p.Gly1025Val)
n.7423G>T
n.979G>T
n.1178G>T
c.3104G>T (p.Gly1035Val)
c.3017G>T (p.Gly1006Val)
c.1976G>T (p.Gly659Val)
gnomAD v4
17g.46031588C>GCA399985936KANSL1c.3206G>C (p.Gly1069Ala)
c.3203G>C (p.Gly1068Ala)
c.3014G>C (p.Gly1005Ala)
c.3074G>C (p.Gly1025Ala)
n.7423G>C
n.979G>C
n.1178G>C
c.3104G>C (p.Gly1035Ala)
c.3017G>C (p.Gly1006Ala)
c.1976G>C (p.Gly659Ala)
17g.46031588C>TCA399985938KANSL1c.3206G>A (p.Gly1069Asp)
c.3203G>A (p.Gly1068Asp)
c.3014G>A (p.Gly1005Asp)
c.3074G>A (p.Gly1025Asp)
n.7423G>A
n.979G>A
n.1178G>A
c.3104G>A (p.Gly1035Asp)
c.3017G>A (p.Gly1006Asp)
c.1976G>A (p.Gly659Asp)
17g.46031589C>ACA399985945KANSL1c.3205G>T (p.Gly1069Cys)
c.3202G>T (p.Gly1068Cys)
c.3013G>T (p.Gly1005Cys)
c.3073G>T (p.Gly1025Cys)
n.7422G>T
n.978G>T
n.1177G>T
c.3103G>T (p.Gly1035Cys)
c.3016G>T (p.Gly1006Cys)
c.1975G>T (p.Gly659Cys)
17g.46031589C>GCA399985941KANSL1c.3205G>C (p.Gly1069Arg)
c.3202G>C (p.Gly1068Arg)
c.3013G>C (p.Gly1005Arg)
c.3073G>C (p.Gly1025Arg)
n.7422G>C
n.978G>C
n.1177G>C
c.3103G>C (p.Gly1035Arg)
c.3016G>C (p.Gly1006Arg)
c.1975G>C (p.Gly659Arg)
17g.46031589C>TCA399985943KANSL1c.3205G>A (p.Gly1069Ser)
c.3202G>A (p.Gly1068Ser)
c.3013G>A (p.Gly1005Ser)
c.3073G>A (p.Gly1025Ser)
n.7422G>A
n.978G>A
n.1177G>A
c.3103G>A (p.Gly1035Ser)
c.3016G>A (p.Gly1006Ser)
c.1975G>A (p.Gly659Ser)
17g.46031590T>ACA500371664KANSL1c.3204A>T (p.Ser1068=)
c.3201A>T (p.Ser1067=)
c.3012A>T (p.Ser1004=)
c.3072A>T (p.Ser1024=)
n.7421A>T
n.977A>T
n.1176A>T
c.3102A>T (p.Ser1034=)
c.3015A>T (p.Ser1005=)
c.1974A>T (p.Ser658=)
17g.46031590T>CCA500371665KANSL1c.3204A>G (p.Ser1068=)
c.3201A>G (p.Ser1067=)
c.3012A>G (p.Ser1004=)
c.3072A>G (p.Ser1024=)
n.7421A>G
n.977A>G
n.1176A>G
c.3102A>G (p.Ser1034=)
c.3015A>G (p.Ser1005=)
c.1974A>G (p.Ser658=)
17g.46031590T>GCA500371666KANSL1c.3204A>C (p.Ser1068=)
c.3201A>C (p.Ser1067=)
c.3012A>C (p.Ser1004=)
c.3072A>C (p.Ser1024=)
n.7421A>C
n.977A>C
n.1176A>C
c.3102A>C (p.Ser1034=)
c.3015A>C (p.Ser1005=)
c.1974A>C (p.Ser658=)
17g.46031591G>ACA399985948KANSL1c.3203C>T (p.Ser1068Leu)
c.3200C>T (p.Ser1067Leu)
c.3011C>T (p.Ser1004Leu)
c.3071C>T (p.Ser1024Leu)
n.7420C>T
n.976C>T
n.1175C>T
c.3101C>T (p.Ser1034Leu)
c.3014C>T (p.Ser1005Leu)
c.1973C>T (p.Ser658Leu)
gnomAD v4
17g.46031591G>CCA399985949KANSL1c.3203C>G (p.Ser1068Ter)
c.3200C>G (p.Ser1067Ter)
c.3011C>G (p.Ser1004Ter)
c.3071C>G (p.Ser1024Ter)
n.7420C>G
n.976C>G
n.1175C>G
c.3101C>G (p.Ser1034Ter)
c.3014C>G (p.Ser1005Ter)
c.1973C>G (p.Ser658Ter)
17g.46031591G>TCA399985952KANSL1c.3203C>A (p.Ser1068Ter)
c.3200C>A (p.Ser1067Ter)
c.3011C>A (p.Ser1004Ter)
c.3071C>A (p.Ser1024Ter)
n.7420C>A
n.976C>A
n.1175C>A
c.3101C>A (p.Ser1034Ter)
c.3014C>A (p.Ser1005Ter)
c.1973C>A (p.Ser658Ter)
17g.46031592A>CCA399985955KANSL1c.3202T>G (p.Ser1068Ala)
c.3199T>G (p.Ser1067Ala)
c.3010T>G (p.Ser1004Ala)
c.3070T>G (p.Ser1024Ala)
n.7419T>G
n.975T>G
n.1174T>G
c.3100T>G (p.Ser1034Ala)
c.3013T>G (p.Ser1005Ala)
c.1972T>G (p.Ser658Ala)
17g.46031592A>GCA399985956KANSL1c.3202T>C (p.Ser1068Pro)
c.3199T>C (p.Ser1067Pro)
c.3010T>C (p.Ser1004Pro)
c.3070T>C (p.Ser1024Pro)
n.7419T>C
n.975T>C
n.1174T>C
c.3100T>C (p.Ser1034Pro)
c.3013T>C (p.Ser1005Pro)
c.1972T>C (p.Ser658Pro)
gnomAD v4
17g.46031592A>TCA399985958KANSL1c.3202T>A (p.Ser1068Thr)
c.3199T>A (p.Ser1067Thr)
c.3010T>A (p.Ser1004Thr)
c.3070T>A (p.Ser1024Thr)
n.7419T>A
n.975T>A
n.1174T>A
c.3100T>A (p.Ser1034Thr)
c.3013T>A (p.Ser1005Thr)
c.1972T>A (p.Ser658Thr)
17g.46031593G>ACA500371667KANSL1c.3201C>T (p.Thr1067=)
c.3198C>T (p.Thr1066=)
c.3009C>T (p.Thr1003=)
c.3069C>T (p.Thr1023=)
n.7418C>T
n.974C>T
n.1173C>T
c.3099C>T (p.Thr1033=)
c.3012C>T (p.Thr1004=)
c.1971C>T (p.Thr657=)
17g.46031593G>CCA500371669KANSL1c.3201C>G (p.Thr1067=)
c.3198C>G (p.Thr1066=)
c.3009C>G (p.Thr1003=)
c.3069C>G (p.Thr1023=)
n.7418C>G
n.974C>G
n.1173C>G
c.3099C>G (p.Thr1033=)
c.3012C>G (p.Thr1004=)
c.1971C>G (p.Thr657=)
17g.46031593G>TCA500371668KANSL1c.3201C>A (p.Thr1067=)
c.3198C>A (p.Thr1066=)
c.3009C>A (p.Thr1003=)
c.3069C>A (p.Thr1023=)
n.7418C>A
n.974C>A
n.1173C>A
c.3099C>A (p.Thr1033=)
c.3012C>A (p.Thr1004=)
c.1971C>A (p.Thr657=)
17g.46031594G>ACA399985961KANSL1c.3200C>T (p.Thr1067Ile)
c.3197C>T (p.Thr1066Ile)
c.3008C>T (p.Thr1003Ile)
c.3068C>T (p.Thr1023Ile)
n.7417C>T
n.973C>T
n.1172C>T
c.3098C>T (p.Thr1033Ile)
c.3011C>T (p.Thr1004Ile)
c.1970C>T (p.Thr657Ile)
17g.46031594G>CCA399985962KANSL1c.3200C>G (p.Thr1067Ser)
c.3197C>G (p.Thr1066Ser)
c.3008C>G (p.Thr1003Ser)
c.3068C>G (p.Thr1023Ser)
n.7417C>G
n.973C>G
n.1172C>G
c.3098C>G (p.Thr1033Ser)
c.3011C>G (p.Thr1004Ser)
c.1970C>G (p.Thr657Ser)
17g.46031594G>TCA399985963KANSL1c.3200C>A (p.Thr1067Asn)
c.3197C>A (p.Thr1066Asn)
c.3008C>A (p.Thr1003Asn)
c.3068C>A (p.Thr1023Asn)
n.7417C>A
n.973C>A
n.1172C>A
c.3098C>A (p.Thr1033Asn)
c.3011C>A (p.Thr1004Asn)
c.1970C>A (p.Thr657Asn)
17g.46031595T>ACA399985964KANSL1c.3199A>T (p.Thr1067Ser)
c.3196A>T (p.Thr1066Ser)
c.3007A>T (p.Thr1003Ser)
c.3067A>T (p.Thr1023Ser)
n.7416A>T
n.972A>T
n.1171A>T
c.3097A>T (p.Thr1033Ser)
c.3010A>T (p.Thr1004Ser)
c.1969A>T (p.Thr657Ser)
17g.46031595T>CCA399985965KANSL1c.3199A>G (p.Thr1067Ala)
c.3196A>G (p.Thr1066Ala)
c.3007A>G (p.Thr1003Ala)
c.3067A>G (p.Thr1023Ala)
n.7416A>G
n.972A>G
n.1171A>G
c.3097A>G (p.Thr1033Ala)
c.3010A>G (p.Thr1004Ala)
c.1969A>G (p.Thr657Ala)
17g.46031595T>GCA399985966KANSL1c.3199A>C (p.Thr1067Pro)
c.3196A>C (p.Thr1066Pro)
c.3007A>C (p.Thr1003Pro)
c.3067A>C (p.Thr1023Pro)
n.7416A>C
n.972A>C
n.1171A>C
c.3097A>C (p.Thr1033Pro)
c.3010A>C (p.Thr1004Pro)
c.1969A>C (p.Thr657Pro)
17g.46031596G>ACA500371671KANSL1c.3198C>T (p.Arg1066=)
c.3195C>T (p.Arg1065=)
c.3006C>T (p.Arg1002=)
c.3066C>T (p.Arg1022=)
n.7415C>T
n.971C>T
n.1170C>T
c.3096C>T (p.Arg1032=)
c.3009C>T (p.Arg1003=)
c.1968C>T (p.Arg656=)
17g.46031596G>CCA500371672KANSL1c.3198C>G (p.Arg1066=)
c.3195C>G (p.Arg1065=)
c.3006C>G (p.Arg1002=)
c.3066C>G (p.Arg1022=)
n.7415C>G
n.971C>G
n.1170C>G
c.3096C>G (p.Arg1032=)
c.3009C>G (p.Arg1003=)
c.1968C>G (p.Arg656=)
dbSNP gnomAD v2 gnomAD v4
17g.46031596G=CA2262110754KANSL1c.3198C= (p.Arg1066=)
c.3195C= (p.Arg1065=)
c.3006C= (p.Arg1002=)
c.3066C= (p.Arg1022=)
n.7415C=
n.971C=
n.1170C=
c.3096C= (p.Arg1032=)
c.3009C= (p.Arg1003=)
c.1968C= (p.Arg656=)
17g.46031596G>TCA500371670KANSL1c.3198C>A (p.Arg1066=)
c.3195C>A (p.Arg1065=)
c.3006C>A (p.Arg1002=)
c.3066C>A (p.Arg1022=)
n.7415C>A
n.971C>A
n.1170C>A
c.3096C>A (p.Arg1032=)
c.3009C>A (p.Arg1003=)
c.1968C>A (p.Arg656=)
17g.46031597C>ACA399985967KANSL1c.3197G>T (p.Arg1066Leu)
c.3194G>T (p.Arg1065Leu)
c.3005G>T (p.Arg1002Leu)
c.3065G>T (p.Arg1022Leu)
n.7414G>T
n.970G>T
n.1169G>T
c.3095G>T (p.Arg1032Leu)
c.3008G>T (p.Arg1003Leu)
c.1967G>T (p.Arg656Leu)
COSMIC
17g.46031597C=CA2262110755KANSL1c.3197G= (p.Arg1066=)
c.3194G= (p.Arg1065=)
c.3005G= (p.Arg1002=)
c.3065G= (p.Arg1022=)
n.7414G=
n.970G=
n.1169G=
c.3095G= (p.Arg1032=)
c.3008G= (p.Arg1003=)
c.1967G= (p.Arg656=)
17g.46031597C>GCA399985968KANSL1c.3197G>C (p.Arg1066Pro)
c.3194G>C (p.Arg1065Pro)
c.3005G>C (p.Arg1002Pro)
c.3065G>C (p.Arg1022Pro)
n.7414G>C
n.970G>C
n.1169G>C
c.3095G>C (p.Arg1032Pro)
c.3008G>C (p.Arg1003Pro)
c.1967G>C (p.Arg656Pro)
17g.46031597C>TCA8618348KANSL1c.3197G>A (p.Arg1066His)
c.3194G>A (p.Arg1065His)
c.3005G>A (p.Arg1002His)
c.3065G>A (p.Arg1022His)
n.7414G>A
n.970G>A
n.1169G>A
c.3095G>A (p.Arg1032His)
c.3008G>A (p.Arg1003His)
c.1967G>A (p.Arg656His)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.46031598G>ACA399985969KANSL1c.3196C>T (p.Arg1066Cys)
c.3193C>T (p.Arg1065Cys)
c.3004C>T (p.Arg1002Cys)
c.3064C>T (p.Arg1022Cys)
n.7413C>T
n.969C>T
n.1168C>T
c.3094C>T (p.Arg1032Cys)
c.3007C>T (p.Arg1003Cys)
c.1966C>T (p.Arg656Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.46031598G>CCA399985971KANSL1c.3196C>G (p.Arg1066Gly)
c.3193C>G (p.Arg1065Gly)
c.3004C>G (p.Arg1002Gly)
c.3064C>G (p.Arg1022Gly)
n.7413C>G
n.969C>G
n.1168C>G
c.3094C>G (p.Arg1032Gly)
c.3007C>G (p.Arg1003Gly)
c.1966C>G (p.Arg656Gly)
17g.46031598G=CA2262110756KANSL1c.3196C= (p.Arg1066=)
c.3193C= (p.Arg1065=)
c.3004C= (p.Arg1002=)
c.3064C= (p.Arg1022=)
n.7413C=
n.969C=
n.1168C=
c.3094C= (p.Arg1032=)
c.3007C= (p.Arg1003=)
c.1966C= (p.Arg656=)
17g.46031598G>TCA399985970KANSL1c.3196C>A (p.Arg1066Ser)
c.3193C>A (p.Arg1065Ser)
c.3004C>A (p.Arg1002Ser)
c.3064C>A (p.Arg1022Ser)
n.7413C>A
n.969C>A
n.1168C>A
c.3094C>A (p.Arg1032Ser)
c.3007C>A (p.Arg1003Ser)
c.1966C>A (p.Arg656Ser)
17g.46031599T>ACA500371673KANSL1c.3195A>T (p.Arg1065=)
c.3192A>T (p.Arg1064=)
c.3003A>T (p.Arg1001=)
c.3063A>T (p.Arg1021=)
n.7412A>T
n.968A>T
n.1167A>T
c.3093A>T (p.Arg1031=)
c.3006A>T (p.Arg1002=)
c.1965A>T (p.Arg655=)
17g.46031599T>CCA500371674KANSL1c.3195A>G (p.Arg1065=)
c.3192A>G (p.Arg1064=)
c.3003A>G (p.Arg1001=)
c.3063A>G (p.Arg1021=)
n.7412A>G
n.968A>G
n.1167A>G
c.3093A>G (p.Arg1031=)
c.3006A>G (p.Arg1002=)
c.1965A>G (p.Arg655=)
17g.46031599T>GCA500371675KANSL1c.3195A>C (p.Arg1065=)
c.3192A>C (p.Arg1064=)
c.3003A>C (p.Arg1001=)
c.3063A>C (p.Arg1021=)
n.7412A>C
n.968A>C
n.1167A>C
c.3093A>C (p.Arg1031=)
c.3006A>C (p.Arg1002=)
c.1965A>C (p.Arg655=)
17g.46031600C>ACA399985972KANSL1c.3194G>T (p.Arg1065Leu)
c.3191G>T (p.Arg1064Leu)
c.3002G>T (p.Arg1001Leu)
c.3062G>T (p.Arg1021Leu)
n.7411G>T
n.967G>T
n.1166G>T
c.3092G>T (p.Arg1031Leu)
c.3005G>T (p.Arg1002Leu)
c.1964G>T (p.Arg655Leu)
17g.46031600C=CA2262110757KANSL1c.3194G= (p.Arg1065=)
c.3191G= (p.Arg1064=)
c.3002G= (p.Arg1001=)
c.3062G= (p.Arg1021=)
n.7411G=
n.967G=
n.1166G=
c.3092G= (p.Arg1031=)
c.3005G= (p.Arg1002=)
c.1964G= (p.Arg655=)
17g.46031600C>GCA399985973KANSL1c.3194G>C (p.Arg1065Pro)
c.3191G>C (p.Arg1064Pro)
c.3002G>C (p.Arg1001Pro)
c.3062G>C (p.Arg1021Pro)
n.7411G>C
n.967G>C
n.1166G>C
c.3092G>C (p.Arg1031Pro)
c.3005G>C (p.Arg1002Pro)
c.1964G>C (p.Arg655Pro)
17g.46031600C>TCA399985974KANSL1c.3194G>A (p.Arg1065Gln)
c.3191G>A (p.Arg1064Gln)
c.3002G>A (p.Arg1001Gln)
c.3062G>A (p.Arg1021Gln)
n.7411G>A
n.967G>A
n.1166G>A
c.3092G>A (p.Arg1031Gln)
c.3005G>A (p.Arg1002Gln)
c.1964G>A (p.Arg655Gln)
dbSNP gnomAD v4
17g.46031601G>ACA399985975KANSL1c.3193C>T (p.Arg1065Ter)
c.3190C>T (p.Arg1064Ter)
c.3001C>T (p.Arg1001Ter)
c.3061C>T (p.Arg1021Ter)
n.7410C>T
n.966C>T
n.1165C>T
c.3091C>T (p.Arg1031Ter)
c.3004C>T (p.Arg1002Ter)
c.1963C>T (p.Arg655Ter)
ClinVar dbSNP gnomAD v4
17g.46031601G>CCA399985976KANSL1c.3193C>G (p.Arg1065Gly)
c.3190C>G (p.Arg1064Gly)
c.3001C>G (p.Arg1001Gly)
c.3061C>G (p.Arg1021Gly)
n.7410C>G
n.966C>G
n.1165C>G
c.3091C>G (p.Arg1031Gly)
c.3004C>G (p.Arg1002Gly)
c.1963C>G (p.Arg655Gly)
ClinVar dbSNP gnomAD v4
17g.46031601G>TCA500371676KANSL1c.3193C>A (p.Arg1065=)
c.3190C>A (p.Arg1064=)
c.3001C>A (p.Arg1001=)
c.3061C>A (p.Arg1021=)
n.7410C>A
n.966C>A
n.1165C>A
c.3091C>A (p.Arg1031=)
c.3004C>A (p.Arg1002=)
c.1963C>A (p.Arg655=)
17g.46031602A=CA2262110758KANSL1c.3192T= (p.Thr1064=)
c.3189T= (p.Thr1063=)
c.3000T= (p.Thr1000=)
c.3060T= (p.Thr1020=)
n.7409T=
n.965T=
n.1164T=
c.3090T= (p.Thr1030=)
c.3003T= (p.Thr1001=)
c.1962T= (p.Thr654=)
17g.46031602A>CCA500371679KANSL1c.3192T>G (p.Thr1064=)
c.3189T>G (p.Thr1063=)
c.3000T>G (p.Thr1000=)
c.3060T>G (p.Thr1020=)
n.7409T>G
n.965T>G
n.1164T>G
c.3090T>G (p.Thr1030=)
c.3003T>G (p.Thr1001=)
c.1962T>G (p.Thr654=)
17g.46031602A>GCA500371678KANSL1c.3192T>C (p.Thr1064=)
c.3189T>C (p.Thr1063=)
c.3000T>C (p.Thr1000=)
c.3060T>C (p.Thr1020=)
n.7409T>C
n.965T>C
n.1164T>C
c.3090T>C (p.Thr1030=)
c.3003T>C (p.Thr1001=)
c.1962T>C (p.Thr654=)
dbSNP
17g.46031602A>TCA500371677KANSL1c.3192T>A (p.Thr1064=)
c.3189T>A (p.Thr1063=)
c.3000T>A (p.Thr1000=)
c.3060T>A (p.Thr1020=)
n.7409T>A
n.965T>A
n.1164T>A
c.3090T>A (p.Thr1030=)
c.3003T>A (p.Thr1001=)
c.1962T>A (p.Thr654=)
17g.46031603G>ACA399985977KANSL1c.3191C>T (p.Thr1064Ile)
c.3188C>T (p.Thr1063Ile)
c.2999C>T (p.Thr1000Ile)
c.3059C>T (p.Thr1020Ile)
n.7408C>T
n.964C>T
n.1163C>T
c.3089C>T (p.Thr1030Ile)
c.3002C>T (p.Thr1001Ile)
c.1961C>T (p.Thr654Ile)
gnomAD v4
17g.46031603G>CCA399985978KANSL1c.3191C>G (p.Thr1064Ser)
c.3188C>G (p.Thr1063Ser)
c.2999C>G (p.Thr1000Ser)
c.3059C>G (p.Thr1020Ser)
n.7408C>G
n.964C>G
n.1163C>G
c.3089C>G (p.Thr1030Ser)
c.3002C>G (p.Thr1001Ser)
c.1961C>G (p.Thr654Ser)
17g.46031603G>TCA399985979KANSL1c.3191C>A (p.Thr1064Asn)
c.3188C>A (p.Thr1063Asn)
c.2999C>A (p.Thr1000Asn)
c.3059C>A (p.Thr1020Asn)
n.7408C>A
n.964C>A
n.1163C>A
c.3089C>A (p.Thr1030Asn)
c.3002C>A (p.Thr1001Asn)
c.1961C>A (p.Thr654Asn)
17g.46031604_46031610dupCA2638370880KANSL1c.3185_3191dup (p.Arg1065LeufsTer?)
c.3182_3188dup (p.Arg1064LeufsTer?)
c.2993_2999dup (p.Arg1001LeufsTer?)
c.3053_3059dup (p.Arg1021LeufsTer?)
n.7402_7408dup
n.958_964dup
n.1157_1163dup
c.3083_3089dup (p.Arg1031LeufsTer?)
c.2996_3002dup (p.Arg1002LeufsTer?)
c.1955_1961dup (p.Arg655LeufsTer?)
gnomAD v4
17g.46031604T>ACA399985980KANSL1c.3190A>T (p.Thr1064Ser)
c.3187A>T (p.Thr1063Ser)
c.2998A>T (p.Thr1000Ser)
c.3058A>T (p.Thr1020Ser)
n.7407A>T
n.963A>T
n.1162A>T
c.3088A>T (p.Thr1030Ser)
c.3001A>T (p.Thr1001Ser)
c.1960A>T (p.Thr654Ser)
17g.46031604T>CCA291125327KANSL1c.3190A>G (p.Thr1064Ala)
c.3187A>G (p.Thr1063Ala)
c.2998A>G (p.Thr1000Ala)
c.3058A>G (p.Thr1020Ala)
n.7407A>G
n.963A>G
n.1162A>G
c.3088A>G (p.Thr1030Ala)
c.3001A>G (p.Thr1001Ala)
c.1960A>G (p.Thr654Ala)
dbSNP gnomAD v2 gnomAD v4
17g.46031604T>GCA399985981KANSL1c.3190A>C (p.Thr1064Pro)
c.3187A>C (p.Thr1063Pro)
c.2998A>C (p.Thr1000Pro)
c.3058A>C (p.Thr1020Pro)
n.7407A>C
n.963A>C
n.1162A>C
c.3088A>C (p.Thr1030Pro)
c.3001A>C (p.Thr1001Pro)
c.1960A>C (p.Thr654Pro)
dbSNP gnomAD v3 gnomAD v4
17g.46031604T=CA2262110759KANSL1c.3190A= (p.Thr1064=)
c.3187A= (p.Thr1063=)
c.2998A= (p.Thr1000=)
c.3058A= (p.Thr1020=)
n.7407A=
n.963A=
n.1162A=
c.3088A= (p.Thr1030=)
c.3001A= (p.Thr1001=)
c.1960A= (p.Thr654=)
17g.46031605G>ACA500371680KANSL1c.3189C>T (p.Cys1063=)
c.3186C>T (p.Cys1062=)
c.2997C>T (p.Cys999=)
c.3057C>T (p.Cys1019=)
n.7406C>T
n.962C>T
n.1161C>T
c.3087C>T (p.Cys1029=)
c.3000C>T (p.Cys1000=)
c.1959C>T (p.Cys653=)
dbSNP
17g.46031605G>CCA399985982KANSL1c.3189C>G (p.Cys1063Trp)
c.3186C>G (p.Cys1062Trp)
c.2997C>G (p.Cys999Trp)
c.3057C>G (p.Cys1019Trp)
n.7406C>G
n.962C>G
n.1161C>G
c.3087C>G (p.Cys1029Trp)
c.3000C>G (p.Cys1000Trp)
c.1959C>G (p.Cys653Trp)
17g.46031605G=CA2262110760KANSL1c.3189C= (p.Cys1063=)
c.3186C= (p.Cys1062=)
c.2997C= (p.Cys999=)
c.3057C= (p.Cys1019=)
n.7406C=
n.962C=
n.1161C=
c.3087C= (p.Cys1029=)
c.3000C= (p.Cys1000=)
c.1959C= (p.Cys653=)
17g.46031605G>TCA399985983KANSL1c.3189C>A (p.Cys1063Ter)
c.3186C>A (p.Cys1062Ter)
c.2997C>A (p.Cys999Ter)
c.3057C>A (p.Cys1019Ter)
n.7406C>A
n.962C>A
n.1161C>A
c.3087C>A (p.Cys1029Ter)
c.3000C>A (p.Cys1000Ter)
c.1959C>A (p.Cys653Ter)
17g.46031606C>ACA399985984KANSL1c.3188G>T (p.Cys1063Phe)
c.3185G>T (p.Cys1062Phe)
c.2996G>T (p.Cys999Phe)
c.3056G>T (p.Cys1019Phe)
n.7405G>T
n.961G>T
n.1160G>T
c.3086G>T (p.Cys1029Phe)
c.2999G>T (p.Cys1000Phe)
c.1958G>T (p.Cys653Phe)
17g.46031606C>GCA399985986KANSL1c.3188G>C (p.Cys1063Ser)
c.3185G>C (p.Cys1062Ser)
c.2996G>C (p.Cys999Ser)
c.3056G>C (p.Cys1019Ser)
n.7405G>C
n.961G>C
n.1160G>C
c.3086G>C (p.Cys1029Ser)
c.2999G>C (p.Cys1000Ser)
c.1958G>C (p.Cys653Ser)
17g.46031606C>TCA399985985KANSL1c.3188G>A (p.Cys1063Tyr)
c.3185G>A (p.Cys1062Tyr)
c.2996G>A (p.Cys999Tyr)
c.3056G>A (p.Cys1019Tyr)
n.7405G>A
n.961G>A
n.1160G>A
c.3086G>A (p.Cys1029Tyr)
c.2999G>A (p.Cys1000Tyr)
c.1958G>A (p.Cys653Tyr)
17g.46031607A>CCA399985987KANSL1c.3187T>G (p.Cys1063Gly)
c.3184T>G (p.Cys1062Gly)
c.2995T>G (p.Cys999Gly)
c.3055T>G (p.Cys1019Gly)
n.7404T>G
n.960T>G
n.1159T>G
c.3085T>G (p.Cys1029Gly)
c.2998T>G (p.Cys1000Gly)
c.1957T>G (p.Cys653Gly)
17g.46031607A>GCA399985988KANSL1c.3187T>C (p.Cys1063Arg)
c.3184T>C (p.Cys1062Arg)
c.2995T>C (p.Cys999Arg)
c.3055T>C (p.Cys1019Arg)
n.7404T>C
n.960T>C
n.1159T>C
c.3085T>C (p.Cys1029Arg)
c.2998T>C (p.Cys1000Arg)
c.1957T>C (p.Cys653Arg)
gnomAD v4
17g.46031607A>TCA399985989KANSL1c.3187T>A (p.Cys1063Ser)
c.3184T>A (p.Cys1062Ser)
c.2995T>A (p.Cys999Ser)
c.3055T>A (p.Cys1019Ser)
n.7404T>A
n.960T>A
n.1159T>A
c.3085T>A (p.Cys1029Ser)
c.2998T>A (p.Cys1000Ser)
c.1957T>A (p.Cys653Ser)
17g.46031608G>ACA500371682KANSL1c.3186C>T (p.Arg1062=)
c.3183C>T (p.Arg1061=)
c.2994C>T (p.Arg998=)
c.3054C>T (p.Arg1018=)
n.7403C>T
n.959C>T
n.1158C>T
c.3084C>T (p.Arg1028=)
c.2997C>T (p.Arg999=)
c.1956C>T (p.Arg652=)
17g.46031608G>CCA500371681KANSL1c.3186C>G (p.Arg1062=)
c.3183C>G (p.Arg1061=)
c.2994C>G (p.Arg998=)
c.3054C>G (p.Arg1018=)
n.7403C>G
n.959C>G
n.1158C>G
c.3084C>G (p.Arg1028=)
c.2997C>G (p.Arg999=)
c.1956C>G (p.Arg652=)
17g.46031608G=CA2262110761KANSL1c.3186C= (p.Arg1062=)
c.3183C= (p.Arg1061=)
c.2994C= (p.Arg998=)
c.3054C= (p.Arg1018=)
n.7403C=
n.959C=
n.1158C=
c.3084C= (p.Arg1028=)
c.2997C= (p.Arg999=)
c.1956C= (p.Arg652=)
17g.46031608G>TCA8618349KANSL1c.3186C>A (p.Arg1062=)
c.3183C>A (p.Arg1061=)
c.2994C>A (p.Arg998=)
c.3054C>A (p.Arg1018=)
n.7403C>A
n.959C>A
n.1158C>A
c.3084C>A (p.Arg1028=)
c.2997C>A (p.Arg999=)
c.1956C>A (p.Arg652=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031609C>ACA399985990KANSL1c.3185G>T (p.Arg1062Leu)
c.3182G>T (p.Arg1061Leu)
c.2993G>T (p.Arg998Leu)
c.3053G>T (p.Arg1018Leu)
n.7402G>T
n.958G>T
n.1157G>T
c.3083G>T (p.Arg1028Leu)
c.2996G>T (p.Arg999Leu)
c.1955G>T (p.Arg652Leu)
17g.46031609C=CA2262110762KANSL1c.3185G= (p.Arg1062=)
c.3182G= (p.Arg1061=)
c.2993G= (p.Arg998=)
c.3053G= (p.Arg1018=)
n.7402G=
n.958G=
n.1157G=
c.3083G= (p.Arg1028=)
c.2996G= (p.Arg999=)
c.1955G= (p.Arg652=)
17g.46031609C>GCA399985991KANSL1c.3185G>C (p.Arg1062Pro)
c.3182G>C (p.Arg1061Pro)
c.2993G>C (p.Arg998Pro)
c.3053G>C (p.Arg1018Pro)
n.7402G>C
n.958G>C
n.1157G>C
c.3083G>C (p.Arg1028Pro)
c.2996G>C (p.Arg999Pro)
c.1955G>C (p.Arg652Pro)
17g.46031609C>TCA8618350KANSL1c.3185G>A (p.Arg1062His)
c.3182G>A (p.Arg1061His)
c.2993G>A (p.Arg998His)
c.3053G>A (p.Arg1018His)
n.7402G>A
n.958G>A
n.1157G>A
c.3083G>A (p.Arg1028His)
c.2996G>A (p.Arg999His)
c.1955G>A (p.Arg652His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031610G>ACA399985992KANSL1c.3184C>T (p.Arg1062Cys)
c.3181C>T (p.Arg1061Cys)
c.2992C>T (p.Arg998Cys)
c.3052C>T (p.Arg1018Cys)
n.7401C>T
n.957C>T
n.1156C>T
c.3082C>T (p.Arg1028Cys)
c.2995C>T (p.Arg999Cys)
c.1954C>T (p.Arg652Cys)
ClinVar dbSNP gnomAD v4
17g.46031610G>CCA399985993KANSL1c.3184C>G (p.Arg1062Gly)
c.3181C>G (p.Arg1061Gly)
c.2992C>G (p.Arg998Gly)
c.3052C>G (p.Arg1018Gly)
n.7401C>G
n.957C>G
n.1156C>G
c.3082C>G (p.Arg1028Gly)
c.2995C>G (p.Arg999Gly)
c.1954C>G (p.Arg652Gly)
17g.46031610G=CA2262110763KANSL1c.3184C= (p.Arg1062=)
c.3181C= (p.Arg1061=)
c.2992C= (p.Arg998=)
c.3052C= (p.Arg1018=)
n.7401C=
n.957C=
n.1156C=
c.3082C= (p.Arg1028=)
c.2995C= (p.Arg999=)
c.1954C= (p.Arg652=)
17g.46031610G>TCA399985994KANSL1c.3184C>A (p.Arg1062Ser)
c.3181C>A (p.Arg1061Ser)
c.2992C>A (p.Arg998Ser)
c.3052C>A (p.Arg1018Ser)
n.7401C>A
n.957C>A
n.1156C>A
c.3082C>A (p.Arg1028Ser)
c.2995C>A (p.Arg999Ser)
c.1954C>A (p.Arg652Ser)
17g.46031611G>ACA500371685KANSL1c.3183C>T (p.Ala1061=)
c.3180C>T (p.Ala1060=)
c.2991C>T (p.Ala997=)
c.3051C>T (p.Ala1017=)
n.7400C>T
n.956C>T
n.1155C>T
c.3081C>T (p.Ala1027=)
c.2994C>T (p.Ala998=)
c.1953C>T (p.Ala651=)
17g.46031611G>CCA500371683KANSL1c.3183C>G (p.Ala1061=)
c.3180C>G (p.Ala1060=)
c.2991C>G (p.Ala997=)
c.3051C>G (p.Ala1017=)
n.7400C>G
n.956C>G
n.1155C>G
c.3081C>G (p.Ala1027=)
c.2994C>G (p.Ala998=)
c.1953C>G (p.Ala651=)
gnomAD v4
17g.46031611G>TCA500371684KANSL1c.3183C>A (p.Ala1061=)
c.3180C>A (p.Ala1060=)
c.2991C>A (p.Ala997=)
c.3051C>A (p.Ala1017=)
n.7400C>A
n.956C>A
n.1155C>A
c.3081C>A (p.Ala1027=)
c.2994C>A (p.Ala998=)
c.1953C>A (p.Ala651=)
17g.46031612G>ACA399985997KANSL1c.3182C>T (p.Ala1061Val)
c.3179C>T (p.Ala1060Val)
c.2990C>T (p.Ala997Val)
c.3050C>T (p.Ala1017Val)
n.7399C>T
n.955C>T
n.1154C>T
c.3080C>T (p.Ala1027Val)
c.2993C>T (p.Ala998Val)
c.1952C>T (p.Ala651Val)
gnomAD v4
17g.46031612G>CCA399985996KANSL1c.3182C>G (p.Ala1061Gly)
c.3179C>G (p.Ala1060Gly)
c.2990C>G (p.Ala997Gly)
c.3050C>G (p.Ala1017Gly)
n.7399C>G
n.955C>G
n.1154C>G
c.3080C>G (p.Ala1027Gly)
c.2993C>G (p.Ala998Gly)
c.1952C>G (p.Ala651Gly)
17g.46031612G>TCA399985995KANSL1c.3182C>A (p.Ala1061Asp)
c.3179C>A (p.Ala1060Asp)
c.2990C>A (p.Ala997Asp)
c.3050C>A (p.Ala1017Asp)
n.7399C>A
n.955C>A
n.1154C>A
c.3080C>A (p.Ala1027Asp)
c.2993C>A (p.Ala998Asp)
c.1952C>A (p.Ala651Asp)
17g.46031613C>ACA399985998KANSL1c.3181G>T (p.Ala1061Ser)
c.3178G>T (p.Ala1060Ser)
c.2989G>T (p.Ala997Ser)
c.3049G>T (p.Ala1017Ser)
n.7398G>T
n.954G>T
n.1153G>T
c.3079G>T (p.Ala1027Ser)
c.2992G>T (p.Ala998Ser)
c.1951G>T (p.Ala651Ser)
17g.46031613C=CA2262110764KANSL1c.3181G= (p.Ala1061=)
c.3178G= (p.Ala1060=)
c.2989G= (p.Ala997=)
c.3049G= (p.Ala1017=)
n.7398G=
n.954G=
n.1153G=
c.3079G= (p.Ala1027=)
c.2992G= (p.Ala998=)
c.1951G= (p.Ala651=)
17g.46031613C>GCA399985999KANSL1c.3181G>C (p.Ala1061Pro)
c.3178G>C (p.Ala1060Pro)
c.2989G>C (p.Ala997Pro)
c.3049G>C (p.Ala1017Pro)
n.7398G>C
n.954G>C
n.1153G>C
c.3079G>C (p.Ala1027Pro)
c.2992G>C (p.Ala998Pro)
c.1951G>C (p.Ala651Pro)
17g.46031613C>TCA8618351KANSL1c.3181G>A (p.Ala1061Thr)
c.3178G>A (p.Ala1060Thr)
c.2989G>A (p.Ala997Thr)
c.3049G>A (p.Ala1017Thr)
n.7398G>A
n.954G>A
n.1153G>A
c.3079G>A (p.Ala1027Thr)
c.2992G>A (p.Ala998Thr)
c.1951G>A (p.Ala651Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031614T>ACA500371688KANSL1c.3180A>T (p.Ala1060=)
c.3177A>T (p.Ala1059=)
c.2988A>T (p.Ala996=)
c.3048A>T (p.Ala1016=)
n.7397A>T
n.953A>T
n.1152A>T
c.3078A>T (p.Ala1026=)
c.2991A>T (p.Ala997=)
c.1950A>T (p.Ala650=)
17g.46031614T>CCA500371687KANSL1c.3180A>G (p.Ala1060=)
c.3177A>G (p.Ala1059=)
c.2988A>G (p.Ala996=)
c.3048A>G (p.Ala1016=)
n.7397A>G
n.953A>G
n.1152A>G
c.3078A>G (p.Ala1026=)
c.2991A>G (p.Ala997=)
c.1950A>G (p.Ala650=)
gnomAD v4
17g.46031614T>GCA500371686KANSL1c.3180A>C (p.Ala1060=)
c.3177A>C (p.Ala1059=)
c.2988A>C (p.Ala996=)
c.3048A>C (p.Ala1016=)
n.7397A>C
n.953A>C
n.1152A>C
c.3078A>C (p.Ala1026=)
c.2991A>C (p.Ala997=)
c.1950A>C (p.Ala650=)
17g.46031615G>ACA399986000KANSL1c.3179C>T (p.Ala1060Val)
c.3176C>T (p.Ala1059Val)
c.2987C>T (p.Ala996Val)
c.3047C>T (p.Ala1016Val)
n.7396C>T
n.952C>T
n.1151C>T
c.3077C>T (p.Ala1026Val)
c.2990C>T (p.Ala997Val)
c.1949C>T (p.Ala650Val)
17g.46031615G>CCA399986001KANSL1c.3179C>G (p.Ala1060Gly)
c.3176C>G (p.Ala1059Gly)
c.2987C>G (p.Ala996Gly)
c.3047C>G (p.Ala1016Gly)
n.7396C>G
n.952C>G
n.1151C>G
c.3077C>G (p.Ala1026Gly)
c.2990C>G (p.Ala997Gly)
c.1949C>G (p.Ala650Gly)
17g.46031615G>TCA399986002KANSL1c.3179C>A (p.Ala1060Glu)
c.3176C>A (p.Ala1059Glu)
c.2987C>A (p.Ala996Glu)
c.3047C>A (p.Ala1016Glu)
n.7396C>A
n.952C>A
n.1151C>A
c.3077C>A (p.Ala1026Glu)
c.2990C>A (p.Ala997Glu)
c.1949C>A (p.Ala650Glu)
17g.46031616C>ACA399986003KANSL1c.3178G>T (p.Ala1060Ser)
c.3175G>T (p.Ala1059Ser)
c.2986G>T (p.Ala996Ser)
c.3046G>T (p.Ala1016Ser)
n.7395G>T
n.951G>T
n.1150G>T
c.3076G>T (p.Ala1026Ser)
c.2989G>T (p.Ala997Ser)
c.1948G>T (p.Ala650Ser)
17g.46031616C>GCA399986004KANSL1c.3178G>C (p.Ala1060Pro)
c.3175G>C (p.Ala1059Pro)
c.2986G>C (p.Ala996Pro)
c.3046G>C (p.Ala1016Pro)
n.7395G>C
n.951G>C
n.1150G>C
c.3076G>C (p.Ala1026Pro)
c.2989G>C (p.Ala997Pro)
c.1948G>C (p.Ala650Pro)
17g.46031616C>TCA399986005KANSL1c.3178G>A (p.Ala1060Thr)
c.3175G>A (p.Ala1059Thr)
c.2986G>A (p.Ala996Thr)
c.3046G>A (p.Ala1016Thr)
n.7395G>A
n.951G>A
n.1150G>A
c.3076G>A (p.Ala1026Thr)
c.2989G>A (p.Ala997Thr)
c.1948G>A (p.Ala650Thr)
17g.46031617T>ACA500371689KANSL1c.3177A>T (p.Arg1059=)
c.3174A>T (p.Arg1058=)
c.2985A>T (p.Arg995=)
c.3045A>T (p.Arg1015=)
n.7394A>T
n.950A>T
n.1149A>T
c.3075A>T (p.Arg1025=)
c.2988A>T (p.Arg996=)
c.1947A>T (p.Arg649=)
17g.46031617T>CCA8618352KANSL1c.3177A>G (p.Arg1059=)
c.3174A>G (p.Arg1058=)
c.2985A>G (p.Arg995=)
c.3045A>G (p.Arg1015=)
n.7394A>G
n.950A>G
n.1149A>G
c.3075A>G (p.Arg1025=)
c.2988A>G (p.Arg996=)
c.1947A>G (p.Arg649=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031617T>GCA500371690KANSL1c.3177A>C (p.Arg1059=)
c.3174A>C (p.Arg1058=)
c.2985A>C (p.Arg995=)
c.3045A>C (p.Arg1015=)
n.7394A>C
n.950A>C
n.1149A>C
c.3075A>C (p.Arg1025=)
c.2988A>C (p.Arg996=)
c.1947A>C (p.Arg649=)
gnomAD v4
17g.46031617T=CA2262110765KANSL1c.3177A= (p.Arg1059=)
c.3174A= (p.Arg1058=)
c.2985A= (p.Arg995=)
c.3045A= (p.Arg1015=)
n.7394A=
n.950A=
n.1149A=
c.3075A= (p.Arg1025=)
c.2988A= (p.Arg996=)
c.1947A= (p.Arg649=)
17g.46031618C>ACA399986006KANSL1c.3176G>T (p.Arg1059Leu)
c.3173G>T (p.Arg1058Leu)
c.2984G>T (p.Arg995Leu)
c.3044G>T (p.Arg1015Leu)
n.7393G>T
n.949G>T
n.1148G>T
c.3074G>T (p.Arg1025Leu)
c.2987G>T (p.Arg996Leu)
c.1946G>T (p.Arg649Leu)
17g.46031618C=CA2262110766KANSL1c.3176G= (p.Arg1059=)
c.3173G= (p.Arg1058=)
c.2984G= (p.Arg995=)
c.3044G= (p.Arg1015=)
n.7393G=
n.949G=
n.1148G=
c.3074G= (p.Arg1025=)
c.2987G= (p.Arg996=)
c.1946G= (p.Arg649=)
17g.46031618C>GCA399986007KANSL1c.3176G>C (p.Arg1059Pro)
c.3173G>C (p.Arg1058Pro)
c.2984G>C (p.Arg995Pro)
c.3044G>C (p.Arg1015Pro)
n.7393G>C
n.949G>C
n.1148G>C
c.3074G>C (p.Arg1025Pro)
c.2987G>C (p.Arg996Pro)
c.1946G>C (p.Arg649Pro)
17g.46031618C>TCA8618353KANSL1c.3176G>A (p.Arg1059Gln)
c.3173G>A (p.Arg1058Gln)
c.2984G>A (p.Arg995Gln)
c.3044G>A (p.Arg1015Gln)
n.7393G>A
n.949G>A
n.1148G>A
c.3074G>A (p.Arg1025Gln)
c.2987G>A (p.Arg996Gln)
c.1946G>A (p.Arg649Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031619G>ACA399986009KANSL1c.3175C>T (p.Arg1059Ter)
c.3172C>T (p.Arg1058Ter)
c.2983C>T (p.Arg995Ter)
c.3043C>T (p.Arg1015Ter)
n.7392C>T
n.948C>T
n.1147C>T
c.3073C>T (p.Arg1025Ter)
c.2986C>T (p.Arg996Ter)
c.1945C>T (p.Arg649Ter)
dbSNP COSMIC
17g.46031619G>CCA399986008KANSL1c.3175C>G (p.Arg1059Gly)
c.3172C>G (p.Arg1058Gly)
c.2983C>G (p.Arg995Gly)
c.3043C>G (p.Arg1015Gly)
n.7392C>G
n.948C>G
n.1147C>G
c.3073C>G (p.Arg1025Gly)
c.2986C>G (p.Arg996Gly)
c.1945C>G (p.Arg649Gly)
ClinVar dbSNP gnomAD v4
17g.46031619G=CA2262110767KANSL1c.3175C= (p.Arg1059=)
c.3172C= (p.Arg1058=)
c.2983C= (p.Arg995=)
c.3043C= (p.Arg1015=)
n.7392C=
n.948C=
n.1147C=
c.3073C= (p.Arg1025=)
c.2986C= (p.Arg996=)
c.1945C= (p.Arg649=)
17g.46031619G>TCA500371691KANSL1c.3175C>A (p.Arg1059=)
c.3172C>A (p.Arg1058=)
c.2983C>A (p.Arg995=)
c.3043C>A (p.Arg1015=)
n.7392C>A
n.948C>A
n.1147C>A
c.3073C>A (p.Arg1025=)
c.2986C>A (p.Arg996=)
c.1945C>A (p.Arg649=)
17g.46031620C>ACA399986010KANSL1c.3174G>T (p.Glu1058Asp)
c.3171G>T (p.Glu1057Asp)
c.2982G>T (p.Glu994Asp)
c.3042G>T (p.Glu1014Asp)
n.7391G>T
n.947G>T
n.1146G>T
c.3072G>T (p.Glu1024Asp)
c.2985G>T (p.Glu995Asp)
c.1944G>T (p.Glu648Asp)
17g.46031620C>GCA399986011KANSL1c.3174G>C (p.Glu1058Asp)
c.3171G>C (p.Glu1057Asp)
c.2982G>C (p.Glu994Asp)
c.3042G>C (p.Glu1014Asp)
n.7391G>C
n.947G>C
n.1146G>C
c.3072G>C (p.Glu1024Asp)
c.2985G>C (p.Glu995Asp)
c.1944G>C (p.Glu648Asp)
17g.46031620C>TCA500371692KANSL1c.3174G>A (p.Glu1058=)
c.3171G>A (p.Glu1057=)
c.2982G>A (p.Glu994=)
c.3042G>A (p.Glu1014=)
n.7391G>A
n.947G>A
n.1146G>A
c.3072G>A (p.Glu1024=)
c.2985G>A (p.Glu995=)
c.1944G>A (p.Glu648=)
gnomAD v4
17g.46031621T>ACA399986012KANSL1c.3173A>T (p.Glu1058Val)
c.3170A>T (p.Glu1057Val)
c.2981A>T (p.Glu994Val)
c.3041A>T (p.Glu1014Val)
n.7390A>T
n.946A>T
n.1145A>T
c.3071A>T (p.Glu1024Val)
c.2984A>T (p.Glu995Val)
c.1943A>T (p.Glu648Val)
17g.46031621T>CCA399986013KANSL1c.3173A>G (p.Glu1058Gly)
c.3170A>G (p.Glu1057Gly)
c.2981A>G (p.Glu994Gly)
c.3041A>G (p.Glu1014Gly)
n.7390A>G
n.946A>G
n.1145A>G
c.3071A>G (p.Glu1024Gly)
c.2984A>G (p.Glu995Gly)
c.1943A>G (p.Glu648Gly)
17g.46031621T>GCA399986014KANSL1c.3173A>C (p.Glu1058Ala)
c.3170A>C (p.Glu1057Ala)
c.2981A>C (p.Glu994Ala)
c.3041A>C (p.Glu1014Ala)
n.7390A>C
n.946A>C
n.1145A>C
c.3071A>C (p.Glu1024Ala)
c.2984A>C (p.Glu995Ala)
c.1943A>C (p.Glu648Ala)
17g.46031622C>ACA399986015KANSL1c.3172G>T (p.Glu1058Ter)
c.3169G>T (p.Glu1057Ter)
c.2980G>T (p.Glu994Ter)
c.3040G>T (p.Glu1014Ter)
n.7389G>T
n.945G>T
n.1144G>T
c.3070G>T (p.Glu1024Ter)
c.2983G>T (p.Glu995Ter)
c.1942G>T (p.Glu648Ter)
ClinVar
17g.46031622C>GCA399986016KANSL1c.3172G>C (p.Glu1058Gln)
c.3169G>C (p.Glu1057Gln)
c.2980G>C (p.Glu994Gln)
c.3040G>C (p.Glu1014Gln)
n.7389G>C
n.945G>C
n.1144G>C
c.3070G>C (p.Glu1024Gln)
c.2983G>C (p.Glu995Gln)
c.1942G>C (p.Glu648Gln)
17g.46031622C>TCA399986017KANSL1c.3172G>A (p.Glu1058Lys)
c.3169G>A (p.Glu1057Lys)
c.2980G>A (p.Glu994Lys)
c.3040G>A (p.Glu1014Lys)
n.7389G>A
n.945G>A
n.1144G>A
c.3070G>A (p.Glu1024Lys)
c.2983G>A (p.Glu995Lys)
c.1942G>A (p.Glu648Lys)
17g.46031623C>ACA399986018KANSL1c.3171G>T (p.Gln1057His)
c.3168G>T (p.Gln1056His)
c.2979G>T (p.Gln993His)
c.3039G>T (p.Gln1013His)
n.7388G>T
n.944G>T
n.1143G>T
c.3069G>T (p.Gln1023His)
c.2982G>T (p.Gln994His)
c.1941G>T (p.Gln647His)
17g.46031623C>GCA399986019KANSL1c.3171G>C (p.Gln1057His)
c.3168G>C (p.Gln1056His)
c.2979G>C (p.Gln993His)
c.3039G>C (p.Gln1013His)
n.7388G>C
n.944G>C
n.1143G>C
c.3069G>C (p.Gln1023His)
c.2982G>C (p.Gln994His)
c.1941G>C (p.Gln647His)
17g.46031623C>TCA500371693KANSL1c.3171G>A (p.Gln1057=)
c.3168G>A (p.Gln1056=)
c.2979G>A (p.Gln993=)
c.3039G>A (p.Gln1013=)
n.7388G>A
n.944G>A
n.1143G>A
c.3069G>A (p.Gln1023=)
c.2982G>A (p.Gln994=)
c.1941G>A (p.Gln647=)
gnomAD v4
17g.46031624T>ACA399986020KANSL1c.3170A>T (p.Gln1057Leu)
c.3167A>T (p.Gln1056Leu)
c.2978A>T (p.Gln993Leu)
c.3038A>T (p.Gln1013Leu)
n.7387A>T
n.943A>T
n.1142A>T
c.3068A>T (p.Gln1023Leu)
c.2981A>T (p.Gln994Leu)
c.1940A>T (p.Gln647Leu)
dbSNP gnomAD v2
17g.46031624T>CCA315140KANSL1c.3170A>G (p.Gln1057Arg)
c.3167A>G (p.Gln1056Arg)
c.2978A>G (p.Gln993Arg)
c.3038A>G (p.Gln1013Arg)
n.7387A>G
n.943A>G
n.1142A>G
c.3068A>G (p.Gln1023Arg)
c.2981A>G (p.Gln994Arg)
c.1940A>G (p.Gln647Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031624T>GCA399986021KANSL1c.3170A>C (p.Gln1057Pro)
c.3167A>C (p.Gln1056Pro)
c.2978A>C (p.Gln993Pro)
c.3038A>C (p.Gln1013Pro)
n.7387A>C
n.943A>C
n.1142A>C
c.3068A>C (p.Gln1023Pro)
c.2981A>C (p.Gln994Pro)
c.1940A>C (p.Gln647Pro)
17g.46031624T=CA2262110768KANSL1c.3170A= (p.Gln1057=)
c.3167A= (p.Gln1056=)
c.2978A= (p.Gln993=)
c.3038A= (p.Gln1013=)
n.7387A=
n.943A=
n.1142A=
c.3068A= (p.Gln1023=)
c.2981A= (p.Gln994=)
c.1940A= (p.Gln647=)
17g.46031625G>ACA399986024KANSL1c.3169C>T (p.Gln1057Ter)
c.3166C>T (p.Gln1056Ter)
c.2977C>T (p.Gln993Ter)
c.3037C>T (p.Gln1013Ter)
n.7386C>T
n.942C>T
n.1141C>T
c.3067C>T (p.Gln1023Ter)
c.2980C>T (p.Gln994Ter)
c.1939C>T (p.Gln647Ter)
17g.46031625G>CCA399986023KANSL1c.3169C>G (p.Gln1057Glu)
c.3166C>G (p.Gln1056Glu)
c.2977C>G (p.Gln993Glu)
c.3037C>G (p.Gln1013Glu)
n.7386C>G
n.942C>G
n.1141C>G
c.3067C>G (p.Gln1023Glu)
c.2980C>G (p.Gln994Glu)
c.1939C>G (p.Gln647Glu)
ClinVar
17g.46031625G>TCA399986022KANSL1c.3169C>A (p.Gln1057Lys)
c.3166C>A (p.Gln1056Lys)
c.2977C>A (p.Gln993Lys)
c.3037C>A (p.Gln1013Lys)
n.7386C>A
n.942C>A
n.1141C>A
c.3067C>A (p.Gln1023Lys)
c.2980C>A (p.Gln994Lys)
c.1939C>A (p.Gln647Lys)
17g.46031626T>ACA8618354KANSL1c.3168A>T (p.Ala1056=)
c.3165A>T (p.Ala1055=)
c.2976A>T (p.Ala992=)
c.3036A>T (p.Ala1012=)
n.7385A>T
n.941A>T
n.1140A>T
c.3066A>T (p.Ala1022=)
c.2979A>T (p.Ala993=)
c.1938A>T (p.Ala646=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031626T>CCA500371694KANSL1c.3168A>G (p.Ala1056=)
c.3165A>G (p.Ala1055=)
c.2976A>G (p.Ala992=)
c.3036A>G (p.Ala1012=)
n.7385A>G
n.941A>G
n.1140A>G
c.3066A>G (p.Ala1022=)
c.2979A>G (p.Ala993=)
c.1938A>G (p.Ala646=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46031626T>GCA500371695KANSL1c.3168A>C (p.Ala1056=)
c.3165A>C (p.Ala1055=)
c.2976A>C (p.Ala992=)
c.3036A>C (p.Ala1012=)
n.7385A>C
n.941A>C
n.1140A>C
c.3066A>C (p.Ala1022=)
c.2979A>C (p.Ala993=)
c.1938A>C (p.Ala646=)
17g.46031626T=CA2262110769KANSL1c.3168A= (p.Ala1056=)
c.3165A= (p.Ala1055=)
c.2976A= (p.Ala992=)
c.3036A= (p.Ala1012=)
n.7385A=
n.941A=
n.1140A=
c.3066A= (p.Ala1022=)
c.2979A= (p.Ala993=)
c.1938A= (p.Ala646=)
17g.46031627G>ACA399986026KANSL1c.3167C>T (p.Ala1056Val)
c.3164C>T (p.Ala1055Val)
c.2975C>T (p.Ala992Val)
c.3035C>T (p.Ala1012Val)
n.7384C>T
n.940C>T
n.1139C>T
c.3065C>T (p.Ala1022Val)
c.2978C>T (p.Ala993Val)
c.1937C>T (p.Ala646Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46031627G>CCA399986025KANSL1c.3167C>G (p.Ala1056Gly)
c.3164C>G (p.Ala1055Gly)
c.2975C>G (p.Ala992Gly)
c.3035C>G (p.Ala1012Gly)
n.7384C>G
n.940C>G
n.1139C>G
c.3065C>G (p.Ala1022Gly)
c.2978C>G (p.Ala993Gly)
c.1937C>G (p.Ala646Gly)
17g.46031627G=CA2262110770KANSL1c.3167C= (p.Ala1056=)
c.3164C= (p.Ala1055=)
c.2975C= (p.Ala992=)
c.3035C= (p.Ala1012=)
n.7384C=
n.940C=
n.1139C=
c.3065C= (p.Ala1022=)
c.2978C= (p.Ala993=)
c.1937C= (p.Ala646=)
17g.46031627G>TCA399986027KANSL1c.3167C>A (p.Ala1056Glu)
c.3164C>A (p.Ala1055Glu)
c.2975C>A (p.Ala992Glu)
c.3035C>A (p.Ala1012Glu)
n.7384C>A
n.940C>A
n.1139C>A
c.3065C>A (p.Ala1022Glu)
c.2978C>A (p.Ala993Glu)
c.1937C>A (p.Ala646Glu)
17g.46031628C>ACA399986028KANSL1c.3166G>T (p.Ala1056Ser)
c.3163G>T (p.Ala1055Ser)
c.2974G>T (p.Ala992Ser)
c.3034G>T (p.Ala1012Ser)
n.7383G>T
n.939G>T
n.1138G>T
c.3064G>T (p.Ala1022Ser)
c.2977G>T (p.Ala993Ser)
c.1936G>T (p.Ala646Ser)
17g.46031628C>GCA399986029KANSL1c.3166G>C (p.Ala1056Pro)
c.3163G>C (p.Ala1055Pro)
c.2974G>C (p.Ala992Pro)
c.3034G>C (p.Ala1012Pro)
n.7383G>C
n.939G>C
n.1138G>C
c.3064G>C (p.Ala1022Pro)
c.2977G>C (p.Ala993Pro)
c.1936G>C (p.Ala646Pro)
17g.46031628C>TCA399986030KANSL1c.3166G>A (p.Ala1056Thr)
c.3163G>A (p.Ala1055Thr)
c.2974G>A (p.Ala992Thr)
c.3034G>A (p.Ala1012Thr)
n.7383G>A
n.939G>A
n.1138G>A
c.3064G>A (p.Ala1022Thr)
c.2977G>A (p.Ala993Thr)
c.1936G>A (p.Ala646Thr)
gnomAD v4
17g.46031629A>CCA399986031KANSL1c.3165T>G (p.Asp1055Glu)
c.3162T>G (p.Asp1054Glu)
c.2973T>G (p.Asp991Glu)
c.3033T>G (p.Asp1011Glu)
n.7382T>G
n.938T>G
n.1137T>G
c.3063T>G (p.Asp1021Glu)
c.2976T>G (p.Asp992Glu)
c.1935T>G (p.Asp645Glu)
gnomAD v4
17g.46031629A>GCA500371696KANSL1c.3165T>C (p.Asp1055=)
c.3162T>C (p.Asp1054=)
c.2973T>C (p.Asp991=)
c.3033T>C (p.Asp1011=)
n.7382T>C
n.938T>C
n.1137T>C
c.3063T>C (p.Asp1021=)
c.2976T>C (p.Asp992=)
c.1935T>C (p.Asp645=)
gnomAD v4
17g.46031629A>TCA399986032KANSL1c.3165T>A (p.Asp1055Glu)
c.3162T>A (p.Asp1054Glu)
c.2973T>A (p.Asp991Glu)
c.3033T>A (p.Asp1011Glu)
n.7382T>A
n.938T>A
n.1137T>A
c.3063T>A (p.Asp1021Glu)
c.2976T>A (p.Asp992Glu)
c.1935T>A (p.Asp645Glu)
17g.46031630T>ACA399986033KANSL1c.3164A>T (p.Asp1055Val)
c.3161A>T (p.Asp1054Val)
c.2972A>T (p.Asp991Val)
c.3032A>T (p.Asp1011Val)
n.7381A>T
n.937A>T
n.1136A>T
c.3062A>T (p.Asp1021Val)
c.2975A>T (p.Asp992Val)
c.1934A>T (p.Asp645Val)
17g.46031630T>CCA399986034KANSL1c.3164A>G (p.Asp1055Gly)
c.3161A>G (p.Asp1054Gly)
c.2972A>G (p.Asp991Gly)
c.3032A>G (p.Asp1011Gly)
n.7381A>G
n.937A>G
n.1136A>G
c.3062A>G (p.Asp1021Gly)
c.2975A>G (p.Asp992Gly)
c.1934A>G (p.Asp645Gly)
ClinVar
17g.46031630T>GCA399986035KANSL1c.3164A>C (p.Asp1055Ala)
c.3161A>C (p.Asp1054Ala)
c.2972A>C (p.Asp991Ala)
c.3032A>C (p.Asp1011Ala)
n.7381A>C
n.937A>C
n.1136A>C
c.3062A>C (p.Asp1021Ala)
c.2975A>C (p.Asp992Ala)
c.1934A>C (p.Asp645Ala)
17g.46031631C>ACA291125382KANSL1c.3163G>T (p.Asp1055Tyr)
c.3160G>T (p.Asp1054Tyr)
c.2971G>T (p.Asp991Tyr)
c.3031G>T (p.Asp1011Tyr)
n.7380G>T
n.936G>T
n.1135G>T
c.3061G>T (p.Asp1021Tyr)
c.2974G>T (p.Asp992Tyr)
c.1933G>T (p.Asp645Tyr)
dbSNP
17g.46031631C=CA2262110771KANSL1c.3163G= (p.Asp1055=)
c.3160G= (p.Asp1054=)
c.2971G= (p.Asp991=)
c.3031G= (p.Asp1011=)
n.7380G=
n.936G=
n.1135G=
c.3061G= (p.Asp1021=)
c.2974G= (p.Asp992=)
c.1933G= (p.Asp645=)
17g.46031631C>GCA399986036KANSL1c.3163G>C (p.Asp1055His)
c.3160G>C (p.Asp1054His)
c.2971G>C (p.Asp991His)
c.3031G>C (p.Asp1011His)
n.7380G>C
n.936G>C
n.1135G>C
c.3061G>C (p.Asp1021His)
c.2974G>C (p.Asp992His)
c.1933G>C (p.Asp645His)
17g.46031631C>TCA399986037KANSL1c.3163G>A (p.Asp1055Asn)
c.3160G>A (p.Asp1054Asn)
c.2971G>A (p.Asp991Asn)
c.3031G>A (p.Asp1011Asn)
n.7380G>A
n.936G>A
n.1135G>A
c.3061G>A (p.Asp1021Asn)
c.2974G>A (p.Asp992Asn)
c.1933G>A (p.Asp645Asn)
17g.46031632C>ACA500371699KANSL1c.3162G>T (p.Leu1054=)
c.3159G>T (p.Leu1053=)
c.2970G>T (p.Leu990=)
c.3030G>T (p.Leu1010=)
n.7379G>T
n.935G>T
n.1134G>T
c.3060G>T (p.Leu1020=)
c.2973G>T (p.Leu991=)
c.1932G>T (p.Leu644=)
ClinVar
17g.46031632C>GCA500371697KANSL1c.3162G>C (p.Leu1054=)
c.3159G>C (p.Leu1053=)
c.2970G>C (p.Leu990=)
c.3030G>C (p.Leu1010=)
n.7379G>C
n.935G>C
n.1134G>C
c.3060G>C (p.Leu1020=)
c.2973G>C (p.Leu991=)
c.1932G>C (p.Leu644=)
17g.46031632C>TCA500371698KANSL1c.3162G>A (p.Leu1054=)
c.3159G>A (p.Leu1053=)
c.2970G>A (p.Leu990=)
c.3030G>A (p.Leu1010=)
n.7379G>A
n.935G>A
n.1134G>A
c.3060G>A (p.Leu1020=)
c.2973G>A (p.Leu991=)
c.1932G>A (p.Leu644=)
17g.46031633A>CCA399986040KANSL1c.3161T>G (p.Leu1054Arg)
c.3158T>G (p.Leu1053Arg)
c.2969T>G (p.Leu990Arg)
c.3029T>G (p.Leu1010Arg)
n.7378T>G
n.934T>G
n.1133T>G
c.3059T>G (p.Leu1020Arg)
c.2972T>G (p.Leu991Arg)
c.1931T>G (p.Leu644Arg)
17g.46031633A>GCA399986039KANSL1c.3161T>C (p.Leu1054Pro)
c.3158T>C (p.Leu1053Pro)
c.2969T>C (p.Leu990Pro)
c.3029T>C (p.Leu1010Pro)
n.7378T>C
n.934T>C
n.1133T>C
c.3059T>C (p.Leu1020Pro)
c.2972T>C (p.Leu991Pro)
c.1931T>C (p.Leu644Pro)
17g.46031633A>TCA399986038KANSL1c.3161T>A (p.Leu1054Gln)
c.3158T>A (p.Leu1053Gln)
c.2969T>A (p.Leu990Gln)
c.3029T>A (p.Leu1010Gln)
n.7378T>A
n.934T>A
n.1133T>A
c.3059T>A (p.Leu1020Gln)
c.2972T>A (p.Leu991Gln)
c.1931T>A (p.Leu644Gln)
17g.46031634G>ACA500371700KANSL1c.3160C>T (p.Leu1054=)
c.3157C>T (p.Leu1053=)
c.2968C>T (p.Leu990=)
c.3028C>T (p.Leu1010=)
n.7377C>T
n.933C>T
n.1132C>T
c.3058C>T (p.Leu1020=)
c.2971C>T (p.Leu991=)
c.1930C>T (p.Leu644=)
dbSNP gnomAD v2 gnomAD v4
17g.46031634G>CCA399986041KANSL1c.3160C>G (p.Leu1054Val)
c.3157C>G (p.Leu1053Val)
c.2968C>G (p.Leu990Val)
c.3028C>G (p.Leu1010Val)
n.7377C>G
n.933C>G
n.1132C>G
c.3058C>G (p.Leu1020Val)
c.2971C>G (p.Leu991Val)
c.1930C>G (p.Leu644Val)
17g.46031634G=CA2262110772KANSL1c.3160C= (p.Leu1054=)
c.3157C= (p.Leu1053=)
c.2968C= (p.Leu990=)
c.3028C= (p.Leu1010=)
n.7377C=
n.933C=
n.1132C=
c.3058C= (p.Leu1020=)
c.2971C= (p.Leu991=)
c.1930C= (p.Leu644=)
17g.46031634G>TCA399986042KANSL1c.3160C>A (p.Leu1054Met)
c.3157C>A (p.Leu1053Met)
c.2968C>A (p.Leu990Met)
c.3028C>A (p.Leu1010Met)
n.7377C>A
n.933C>A
n.1132C>A
c.3058C>A (p.Leu1020Met)
c.2971C>A (p.Leu991Met)
c.1930C>A (p.Leu644Met)
17g.46031635C>ACA399986043KANSL1c.3159G>T (p.Gln1053His)
c.3156G>T (p.Gln1052His)
c.2967G>T (p.Gln989His)
c.3027G>T (p.Gln1009His)
n.7376G>T
n.932G>T
n.1131G>T
c.3057G>T (p.Gln1019His)
c.2970G>T (p.Gln990His)
c.1929G>T (p.Gln643His)
17g.46031635C=CA2262110773KANSL1c.3159G= (p.Gln1053=)
c.3156G= (p.Gln1052=)
c.2967G= (p.Gln989=)
c.3027G= (p.Gln1009=)
n.7376G=
n.932G=
n.1131G=
c.3057G= (p.Gln1019=)
c.2970G= (p.Gln990=)
c.1929G= (p.Gln643=)
17g.46031635C>GCA8618355KANSL1c.3159G>C (p.Gln1053His)
c.3156G>C (p.Gln1052His)
c.2967G>C (p.Gln989His)
c.3027G>C (p.Gln1009His)
n.7376G>C
n.932G>C
n.1131G>C
c.3057G>C (p.Gln1019His)
c.2970G>C (p.Gln990His)
c.1929G>C (p.Gln643His)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031635C>TCA500371701KANSL1c.3159G>A (p.Gln1053=)
c.3156G>A (p.Gln1052=)
c.2967G>A (p.Gln989=)
c.3027G>A (p.Gln1009=)
n.7376G>A
n.932G>A
n.1131G>A
c.3057G>A (p.Gln1019=)
c.2970G>A (p.Gln990=)
c.1929G>A (p.Gln643=)
17g.46031636T>ACA399986044KANSL1c.3158A>T (p.Gln1053Leu)
c.3155A>T (p.Gln1052Leu)
c.2966A>T (p.Gln989Leu)
c.3026A>T (p.Gln1009Leu)
n.7375A>T
n.931A>T
n.1130A>T
c.3056A>T (p.Gln1019Leu)
c.2969A>T (p.Gln990Leu)
c.1928A>T (p.Gln643Leu)
17g.46031636T>CCA16607691KANSL1c.3158A>G (p.Gln1053Arg)
c.3155A>G (p.Gln1052Arg)
c.2966A>G (p.Gln989Arg)
c.3026A>G (p.Gln1009Arg)
n.7375A>G
n.931A>G
n.1130A>G
c.3056A>G (p.Gln1019Arg)
c.2969A>G (p.Gln990Arg)
c.1928A>G (p.Gln643Arg)
ClinVar dbSNP
17g.46031636T>GCA399986045KANSL1c.3158A>C (p.Gln1053Pro)
c.3155A>C (p.Gln1052Pro)
c.2966A>C (p.Gln989Pro)
c.3026A>C (p.Gln1009Pro)
n.7375A>C
n.931A>C
n.1130A>C
c.3056A>C (p.Gln1019Pro)
c.2969A>C (p.Gln990Pro)
c.1928A>C (p.Gln643Pro)
17g.46031636T=CA2262110774KANSL1c.3158A= (p.Gln1053=)
c.3155A= (p.Gln1052=)
c.2966A= (p.Gln989=)
c.3026A= (p.Gln1009=)
n.7375A=
n.931A=
n.1130A=
c.3056A= (p.Gln1019=)
c.2969A= (p.Gln990=)
c.1928A= (p.Gln643=)
17g.46031637G>ACA399986046KANSL1c.3157C>T (p.Gln1053Ter)
c.3154C>T (p.Gln1052Ter)
c.2965C>T (p.Gln989Ter)
c.3025C>T (p.Gln1009Ter)
n.7374C>T
n.930C>T
n.1129C>T
c.3055C>T (p.Gln1019Ter)
c.2968C>T (p.Gln990Ter)
c.1927C>T (p.Gln643Ter)
17g.46031637G>CCA399986047KANSL1c.3157C>G (p.Gln1053Glu)
c.3154C>G (p.Gln1052Glu)
c.2965C>G (p.Gln989Glu)
c.3025C>G (p.Gln1009Glu)
n.7374C>G
n.930C>G
n.1129C>G
c.3055C>G (p.Gln1019Glu)
c.2968C>G (p.Gln990Glu)
c.1927C>G (p.Gln643Glu)
17g.46031637G>TCA399986048KANSL1c.3157C>A (p.Gln1053Lys)
c.3154C>A (p.Gln1052Lys)
c.2965C>A (p.Gln989Lys)
c.3025C>A (p.Gln1009Lys)
n.7374C>A
n.930C>A
n.1129C>A
c.3055C>A (p.Gln1019Lys)
c.2968C>A (p.Gln990Lys)
c.1927C>A (p.Gln643Lys)
17g.46031638dupCA2638370942KANSL1c.3157dup (p.Gln1053ProfsTer?)
c.3154dup (p.Gln1052ProfsTer?)
c.2965dup (p.Gln989ProfsTer?)
c.3025dup (p.Gln1009ProfsTer?)
n.7374dup
n.930dup
n.1129dup
c.3055dup (p.Gln1019ProfsTer?)
c.2968dup (p.Gln990ProfsTer?)
c.1927dup (p.Gln643ProfsTer?)
gnomAD v4
17g.46031638G>ACA500371702KANSL1c.3156C>T (p.Asp1052=)
c.3153C>T (p.Asp1051=)
c.2964C>T (p.Asp988=)
c.3024C>T (p.Asp1008=)
n.7373C>T
n.929C>T
n.1128C>T
c.3054C>T (p.Asp1018=)
c.2967C>T (p.Asp989=)
c.1926C>T (p.Asp642=)
dbSNP gnomAD v2 gnomAD v4
17g.46031638G>CCA399986049KANSL1c.3156C>G (p.Asp1052Glu)
c.3153C>G (p.Asp1051Glu)
c.2964C>G (p.Asp988Glu)
c.3024C>G (p.Asp1008Glu)
n.7373C>G
n.929C>G
n.1128C>G
c.3054C>G (p.Asp1018Glu)
c.2967C>G (p.Asp989Glu)
c.1926C>G (p.Asp642Glu)
17g.46031638G=CA2262110775KANSL1c.3156C= (p.Asp1052=)
c.3153C= (p.Asp1051=)
c.2964C= (p.Asp988=)
c.3024C= (p.Asp1008=)
n.7373C=
n.929C=
n.1128C=
c.3054C= (p.Asp1018=)
c.2967C= (p.Asp989=)
c.1926C= (p.Asp642=)
17g.46031638G>TCA399986050KANSL1c.3156C>A (p.Asp1052Glu)
c.3153C>A (p.Asp1051Glu)
c.2964C>A (p.Asp988Glu)
c.3024C>A (p.Asp1008Glu)
n.7373C>A
n.929C>A
n.1128C>A
c.3054C>A (p.Asp1018Glu)
c.2967C>A (p.Asp989Glu)
c.1926C>A (p.Asp642Glu)
17g.46031639T>ACA399986053KANSL1c.3155A>T (p.Asp1052Val)
c.3152A>T (p.Asp1051Val)
c.2963A>T (p.Asp988Val)
c.3023A>T (p.Asp1008Val)
n.7372A>T
n.928A>T
n.1127A>T
c.3053A>T (p.Asp1018Val)
c.2966A>T (p.Asp989Val)
c.1925A>T (p.Asp642Val)
ClinVar
17g.46031639T>CCA399986052KANSL1c.3155A>G (p.Asp1052Gly)
c.3152A>G (p.Asp1051Gly)
c.2963A>G (p.Asp988Gly)
c.3023A>G (p.Asp1008Gly)
n.7372A>G
n.928A>G
n.1127A>G
c.3053A>G (p.Asp1018Gly)
c.2966A>G (p.Asp989Gly)
c.1925A>G (p.Asp642Gly)
17g.46031639T>GCA399986051KANSL1c.3155A>C (p.Asp1052Ala)
c.3152A>C (p.Asp1051Ala)
c.2963A>C (p.Asp988Ala)
c.3023A>C (p.Asp1008Ala)
n.7372A>C
n.928A>C
n.1127A>C
c.3053A>C (p.Asp1018Ala)
c.2966A>C (p.Asp989Ala)
c.1925A>C (p.Asp642Ala)
17g.46031640C>ACA399986055KANSL1c.3154G>T (p.Asp1052Tyr)
c.3151G>T (p.Asp1051Tyr)
c.2962G>T (p.Asp988Tyr)
c.3022G>T (p.Asp1008Tyr)
n.7371G>T
n.927G>T
n.1126G>T
c.3052G>T (p.Asp1018Tyr)
c.2965G>T (p.Asp989Tyr)
c.1924G>T (p.Asp642Tyr)
17g.46031640C=CA2262110776KANSL1c.3154G= (p.Asp1052=)
c.3151G= (p.Asp1051=)
c.2962G= (p.Asp988=)
c.3022G= (p.Asp1008=)
n.7371G=
n.927G=
n.1126G=
c.3052G= (p.Asp1018=)
c.2965G= (p.Asp989=)
c.1924G= (p.Asp642=)
17g.46031640C>GCA399986054KANSL1c.3154G>C (p.Asp1052His)
c.3151G>C (p.Asp1051His)
c.2962G>C (p.Asp988His)
c.3022G>C (p.Asp1008His)
n.7371G>C
n.927G>C
n.1126G>C
c.3052G>C (p.Asp1018His)
c.2965G>C (p.Asp989His)
c.1924G>C (p.Asp642His)
17g.46031640C>TCA291125407KANSL1c.3154G>A (p.Asp1052Asn)
c.3151G>A (p.Asp1051Asn)
c.2962G>A (p.Asp988Asn)
c.3022G>A (p.Asp1008Asn)
n.7371G>A
n.927G>A
n.1126G>A
c.3052G>A (p.Asp1018Asn)
c.2965G>A (p.Asp989Asn)
c.1924G>A (p.Asp642Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46031641C>ACA399986056KANSL1c.3153G>T (p.Glu1051Asp)
c.3150G>T (p.Glu1050Asp)
c.2961G>T (p.Glu987Asp)
c.3021G>T (p.Glu1007Asp)
n.7370G>T
n.926G>T
n.1125G>T
c.3051G>T (p.Glu1017Asp)
c.2964G>T (p.Glu988Asp)
c.1923G>T (p.Glu641Asp)
17g.46031641C>GCA399986057KANSL1c.3153G>C (p.Glu1051Asp)
c.3150G>C (p.Glu1050Asp)
c.2961G>C (p.Glu987Asp)
c.3021G>C (p.Glu1007Asp)
n.7370G>C
n.926G>C
n.1125G>C
c.3051G>C (p.Glu1017Asp)
c.2964G>C (p.Glu988Asp)
c.1923G>C (p.Glu641Asp)
17g.46031641C>TCA500371703KANSL1c.3153G>A (p.Glu1051=)
c.3150G>A (p.Glu1050=)
c.2961G>A (p.Glu987=)
c.3021G>A (p.Glu1007=)
n.7370G>A
n.926G>A
n.1125G>A
c.3051G>A (p.Glu1017=)
c.2964G>A (p.Glu988=)
c.1923G>A (p.Glu641=)
17g.46031642T>ACA399986058KANSL1c.3152A>T (p.Glu1051Val)
c.3149A>T (p.Glu1050Val)
c.2960A>T (p.Glu987Val)
c.3020A>T (p.Glu1007Val)
n.7369A>T
n.925A>T
n.1124A>T
c.3050A>T (p.Glu1017Val)
c.2963A>T (p.Glu988Val)
c.1922A>T (p.Glu641Val)
17g.46031642T>CCA399986059KANSL1c.3152A>G (p.Glu1051Gly)
c.3149A>G (p.Glu1050Gly)
c.2960A>G (p.Glu987Gly)
c.3020A>G (p.Glu1007Gly)
n.7369A>G
n.925A>G
n.1124A>G
c.3050A>G (p.Glu1017Gly)
c.2963A>G (p.Glu988Gly)
c.1922A>G (p.Glu641Gly)
17g.46031642T>GCA399986060KANSL1c.3152A>C (p.Glu1051Ala)
c.3149A>C (p.Glu1050Ala)
c.2960A>C (p.Glu987Ala)
c.3020A>C (p.Glu1007Ala)
n.7369A>C
n.925A>C
n.1124A>C
c.3050A>C (p.Glu1017Ala)
c.2963A>C (p.Glu988Ala)
c.1922A>C (p.Glu641Ala)
17g.46031643C>ACA399986061KANSL1c.3151G>T (p.Glu1051Ter)
c.3148G>T (p.Glu1050Ter)
c.2959G>T (p.Glu987Ter)
c.3019G>T (p.Glu1007Ter)
n.7368G>T
n.924G>T
n.1123G>T
c.3049G>T (p.Glu1017Ter)
c.2962G>T (p.Glu988Ter)
c.1921G>T (p.Glu641Ter)
17g.46031643C>GCA399986062KANSL1c.3151G>C (p.Glu1051Gln)
c.3148G>C (p.Glu1050Gln)
c.2959G>C (p.Glu987Gln)
c.3019G>C (p.Glu1007Gln)
n.7368G>C
n.924G>C
n.1123G>C
c.3049G>C (p.Glu1017Gln)
c.2962G>C (p.Glu988Gln)
c.1921G>C (p.Glu641Gln)
gnomAD v4
17g.46031643C>TCA399986063KANSL1c.3151G>A (p.Glu1051Lys)
c.3148G>A (p.Glu1050Lys)
c.2959G>A (p.Glu987Lys)
c.3019G>A (p.Glu1007Lys)
n.7368G>A
n.924G>A
n.1123G>A
c.3049G>A (p.Glu1017Lys)
c.2962G>A (p.Glu988Lys)
c.1921G>A (p.Glu641Lys)
ClinVar
17g.46031644A>CCA399986064KANSL1c.3150T>G (p.Cys1050Trp)
c.3147T>G (p.Cys1049Trp)
c.2958T>G (p.Cys986Trp)
c.3018T>G (p.Cys1006Trp)
n.7367T>G
n.923T>G
n.1122T>G
c.3048T>G (p.Cys1016Trp)
c.2961T>G (p.Cys987Trp)
c.1920T>G (p.Cys640Trp)
17g.46031644A>GCA500371704KANSL1c.3150T>C (p.Cys1050=)
c.3147T>C (p.Cys1049=)
c.2958T>C (p.Cys986=)
c.3018T>C (p.Cys1006=)
n.7367T>C
n.923T>C
n.1122T>C
c.3048T>C (p.Cys1016=)
c.2961T>C (p.Cys987=)
c.1920T>C (p.Cys640=)
17g.46031644A>TCA399986065KANSL1c.3150T>A (p.Cys1050Ter)
c.3147T>A (p.Cys1049Ter)
c.2958T>A (p.Cys986Ter)
c.3018T>A (p.Cys1006Ter)
n.7367T>A
n.923T>A
n.1122T>A
c.3048T>A (p.Cys1016Ter)
c.2961T>A (p.Cys987Ter)
c.1920T>A (p.Cys640Ter)
17g.46031645C>ACA399986068KANSL1c.3149G>T (p.Cys1050Phe)
c.3146G>T (p.Cys1049Phe)
c.2957G>T (p.Cys986Phe)
c.3017G>T (p.Cys1006Phe)
n.7366G>T
n.922G>T
n.1121G>T
c.3047G>T (p.Cys1016Phe)
c.2960G>T (p.Cys987Phe)
c.1919G>T (p.Cys640Phe)
17g.46031645C>GCA399986066KANSL1c.3149G>C (p.Cys1050Ser)
c.3146G>C (p.Cys1049Ser)
c.2957G>C (p.Cys986Ser)
c.3017G>C (p.Cys1006Ser)
n.7366G>C
n.922G>C
n.1121G>C
c.3047G>C (p.Cys1016Ser)
c.2960G>C (p.Cys987Ser)
c.1919G>C (p.Cys640Ser)
17g.46031645C>TCA399986067KANSL1c.3149G>A (p.Cys1050Tyr)
c.3146G>A (p.Cys1049Tyr)
c.2957G>A (p.Cys986Tyr)
c.3017G>A (p.Cys1006Tyr)
n.7366G>A
n.922G>A
n.1121G>A
c.3047G>A (p.Cys1016Tyr)
c.2960G>A (p.Cys987Tyr)
c.1919G>A (p.Cys640Tyr)
17g.46031646A=CA2262110777KANSL1c.3148T= (p.Cys1050=)
c.3145T= (p.Cys1049=)
c.2956T= (p.Cys986=)
c.3016T= (p.Cys1006=)
n.7365T=
n.921T=
n.1120T=
c.3046T= (p.Cys1016=)
c.2959T= (p.Cys987=)
c.1918T= (p.Cys640=)
17g.46031646A>CCA399986069KANSL1c.3148T>G (p.Cys1050Gly)
c.3145T>G (p.Cys1049Gly)
c.2956T>G (p.Cys986Gly)
c.3016T>G (p.Cys1006Gly)
n.7365T>G
n.921T>G
n.1120T>G
c.3046T>G (p.Cys1016Gly)
c.2959T>G (p.Cys987Gly)
c.1918T>G (p.Cys640Gly)
gnomAD v4
17g.46031646A>GCA315138KANSL1c.3148T>C (p.Cys1050Arg)
c.3145T>C (p.Cys1049Arg)
c.2956T>C (p.Cys986Arg)
c.3016T>C (p.Cys1006Arg)
n.7365T>C
n.921T>C
n.1120T>C
c.3046T>C (p.Cys1016Arg)
c.2959T>C (p.Cys987Arg)
c.1918T>C (p.Cys640Arg)
ClinVar dbSNP
17g.46031646A>TCA399986070KANSL1c.3148T>A (p.Cys1050Ser)
c.3145T>A (p.Cys1049Ser)
c.2956T>A (p.Cys986Ser)
c.3016T>A (p.Cys1006Ser)
n.7365T>A
n.921T>A
n.1120T>A
c.3046T>A (p.Cys1016Ser)
c.2959T>A (p.Cys987Ser)
c.1918T>A (p.Cys640Ser)
17g.46031647C>ACA8618356KANSL1c.3147G>T (p.Glu1049Asp)
c.3144G>T (p.Glu1048Asp)
c.2955G>T (p.Glu985Asp)
c.3015G>T (p.Glu1005Asp)
n.7364G>T
n.920G>T
n.1119G>T
c.3045G>T (p.Glu1015Asp)
c.2958G>T (p.Glu986Asp)
c.1917G>T (p.Glu639Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031647C=CA2262110778KANSL1c.3147G= (p.Glu1049=)
c.3144G= (p.Glu1048=)
c.2955G= (p.Glu985=)
c.3015G= (p.Glu1005=)
n.7364G=
n.920G=
n.1119G=
c.3045G= (p.Glu1015=)
c.2958G= (p.Glu986=)
c.1917G= (p.Glu639=)
17g.46031647C>GCA399986071KANSL1c.3147G>C (p.Glu1049Asp)
c.3144G>C (p.Glu1048Asp)
c.2955G>C (p.Glu985Asp)
c.3015G>C (p.Glu1005Asp)
n.7364G>C
n.920G>C
n.1119G>C
c.3045G>C (p.Glu1015Asp)
c.2958G>C (p.Glu986Asp)
c.1917G>C (p.Glu639Asp)
17g.46031647C>TCA500371705KANSL1c.3147G>A (p.Glu1049=)
c.3144G>A (p.Glu1048=)
c.2955G>A (p.Glu985=)
c.3015G>A (p.Glu1005=)
n.7364G>A
n.920G>A
n.1119G>A
c.3045G>A (p.Glu1015=)
c.2958G>A (p.Glu986=)
c.1917G>A (p.Glu639=)
dbSNP
17g.46031648_46031650dupCA2576299128KANSL1c.3145_3147dup (p.Glu1049_Cys1050insGlu)
c.3142_3144dup (p.Glu1048_Cys1049insGlu)
c.2953_2955dup (p.Glu985_Cys986insGlu)
c.3013_3015dup (p.Glu1005_Cys1006insGlu)
n.7362_7364dup
n.918_920dup
n.1117_1119dup
c.3043_3045dup (p.Glu1015_Cys1016insGlu)
c.2956_2958dup (p.Glu986_Cys987insGlu)
c.1915_1917dup (p.Glu639_Cys640insGlu)
17g.46031648T>ACA399986072KANSL1c.3146A>T (p.Glu1049Val)
c.3143A>T (p.Glu1048Val)
c.2954A>T (p.Glu985Val)
c.3014A>T (p.Glu1005Val)
n.7363A>T
n.919A>T
n.1118A>T
c.3044A>T (p.Glu1015Val)
c.2957A>T (p.Glu986Val)
c.1916A>T (p.Glu639Val)
ClinVar dbSNP
17g.46031648T>CCA315136KANSL1c.3146A>G (p.Glu1049Gly)
c.3143A>G (p.Glu1048Gly)
c.2954A>G (p.Glu985Gly)
c.3014A>G (p.Glu1005Gly)
n.7363A>G
n.919A>G
n.1118A>G
c.3044A>G (p.Glu1015Gly)
c.2957A>G (p.Glu986Gly)
c.1916A>G (p.Glu639Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031648T>GCA399986073KANSL1c.3146A>C (p.Glu1049Ala)
c.3143A>C (p.Glu1048Ala)
c.2954A>C (p.Glu985Ala)
c.3014A>C (p.Glu1005Ala)
n.7363A>C
n.919A>C
n.1118A>C
c.3044A>C (p.Glu1015Ala)
c.2957A>C (p.Glu986Ala)
c.1916A>C (p.Glu639Ala)
17g.46031648T=CA2262110779KANSL1c.3146A= (p.Glu1049=)
c.3143A= (p.Glu1048=)
c.2954A= (p.Glu985=)
c.3014A= (p.Glu1005=)
n.7363A=
n.919A=
n.1118A=
c.3044A= (p.Glu1015=)
c.2957A= (p.Glu986=)
c.1916A= (p.Glu639=)
17g.46031649C>ACA399986074KANSL1c.3145G>T (p.Glu1049Ter)
c.3142G>T (p.Glu1048Ter)
c.2953G>T (p.Glu985Ter)
c.3013G>T (p.Glu1005Ter)
n.7362G>T
n.918G>T
n.1117G>T
c.3043G>T (p.Glu1015Ter)
c.2956G>T (p.Glu986Ter)
c.1915G>T (p.Glu639Ter)
17g.46031649C>GCA399986075KANSL1c.3145G>C (p.Glu1049Gln)
c.3142G>C (p.Glu1048Gln)
c.2953G>C (p.Glu985Gln)
c.3013G>C (p.Glu1005Gln)
n.7362G>C
n.918G>C
n.1117G>C
c.3043G>C (p.Glu1015Gln)
c.2956G>C (p.Glu986Gln)
c.1915G>C (p.Glu639Gln)
17g.46031649C>TCA399986076KANSL1c.3145G>A (p.Glu1049Lys)
c.3142G>A (p.Glu1048Lys)
c.2953G>A (p.Glu985Lys)
c.3013G>A (p.Glu1005Lys)
n.7362G>A
n.918G>A
n.1117G>A
c.3043G>A (p.Glu1015Lys)
c.2956G>A (p.Glu986Lys)
c.1915G>A (p.Glu639Lys)
17g.46031650C>ACA500371707KANSL1c.3144G>T (p.Ala1048=)
c.3141G>T (p.Ala1047=)
c.2952G>T (p.Ala984=)
c.3012G>T (p.Ala1004=)
n.7361G>T
n.917G>T
n.1116G>T
c.3042G>T (p.Ala1014=)
c.2955G>T (p.Ala985=)
c.1914G>T (p.Ala638=)
17g.46031650C=CA2262110780KANSL1c.3144G= (p.Ala1048=)
c.3141G= (p.Ala1047=)
c.2952G= (p.Ala984=)
c.3012G= (p.Ala1004=)
n.7361G=
n.917G=
n.1116G=
c.3042G= (p.Ala1014=)
c.2955G= (p.Ala985=)
c.1914G= (p.Ala638=)
17g.46031650C>GCA500371706KANSL1c.3144G>C (p.Ala1048=)
c.3141G>C (p.Ala1047=)
c.2952G>C (p.Ala984=)
c.3012G>C (p.Ala1004=)
n.7361G>C
n.917G>C
n.1116G>C
c.3042G>C (p.Ala1014=)
c.2955G>C (p.Ala985=)
c.1914G>C (p.Ala638=)
ClinVar dbSNP
17g.46031650C>TCA291125416KANSL1c.3144G>A (p.Ala1048=)
c.3141G>A (p.Ala1047=)
c.2952G>A (p.Ala984=)
c.3012G>A (p.Ala1004=)
n.7361G>A
n.917G>A
n.1116G>A
c.3042G>A (p.Ala1014=)
c.2955G>A (p.Ala985=)
c.1914G>A (p.Ala638=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46031651G>ACA8618358KANSL1c.3143C>T (p.Ala1048Val)
c.3140C>T (p.Ala1047Val)
c.2951C>T (p.Ala984Val)
c.3011C>T (p.Ala1004Val)
n.7360C>T
n.916C>T
n.1115C>T
c.3041C>T (p.Ala1014Val)
c.2954C>T (p.Ala985Val)
c.1913C>T (p.Ala638Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031651G>CCA399986077KANSL1c.3143C>G (p.Ala1048Gly)
c.3140C>G (p.Ala1047Gly)
c.2951C>G (p.Ala984Gly)
c.3011C>G (p.Ala1004Gly)
n.7360C>G
n.916C>G
n.1115C>G
c.3041C>G (p.Ala1014Gly)
c.2954C>G (p.Ala985Gly)
c.1913C>G (p.Ala638Gly)
17g.46031651G=CA2262110781KANSL1c.3143C= (p.Ala1048=)
c.3140C= (p.Ala1047=)
c.2951C= (p.Ala984=)
c.3011C= (p.Ala1004=)
n.7360C=
n.916C=
n.1115C=
c.3041C= (p.Ala1014=)
c.2954C= (p.Ala985=)
c.1913C= (p.Ala638=)
17g.46031651G>TCA399986078KANSL1c.3143C>A (p.Ala1048Glu)
c.3140C>A (p.Ala1047Glu)
c.2951C>A (p.Ala984Glu)
c.3011C>A (p.Ala1004Glu)
n.7360C>A
n.916C>A
n.1115C>A
c.3041C>A (p.Ala1014Glu)
c.2954C>A (p.Ala985Glu)
c.1913C>A (p.Ala638Glu)
17g.46031651_46031652insGTGCA8618357KANSL1c.3143_3144insACC (p.Ala1048_Glu1049insPro)
c.3140_3141insACC (p.Ala1047_Glu1048insPro)
c.2951_2952insACC (p.Ala984_Glu985insPro)
c.3011_3012insACC (p.Ala1004_Glu1005insPro)
n.7360_7361insACC
n.916_917insACC
n.1115_1116insACC
c.3041_3042insACC (p.Ala1014_Glu1015insPro)
c.2954_2955insACC (p.Ala985_Glu986insPro)
c.1913_1914insACC (p.Ala638_Glu639insPro)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031652C>ACA399986081KANSL1c.3142G>T (p.Ala1048Ser)
c.3139G>T (p.Ala1047Ser)
c.2950G>T (p.Ala984Ser)
c.3010G>T (p.Ala1004Ser)
n.7359G>T
n.915G>T
n.1114G>T
c.3040G>T (p.Ala1014Ser)
c.2953G>T (p.Ala985Ser)
c.1912G>T (p.Ala638Ser)
17g.46031652C>GCA399986079KANSL1c.3142G>C (p.Ala1048Pro)
c.3139G>C (p.Ala1047Pro)
c.2950G>C (p.Ala984Pro)
c.3010G>C (p.Ala1004Pro)
n.7359G>C
n.915G>C
n.1114G>C
c.3040G>C (p.Ala1014Pro)
c.2953G>C (p.Ala985Pro)
c.1912G>C (p.Ala638Pro)
17g.46031652C>TCA399986080KANSL1c.3142G>A (p.Ala1048Thr)
c.3139G>A (p.Ala1047Thr)
c.2950G>A (p.Ala984Thr)
c.3010G>A (p.Ala1004Thr)
n.7359G>A
n.915G>A
n.1114G>A
c.3040G>A (p.Ala1014Thr)
c.2953G>A (p.Ala985Thr)
c.1912G>A (p.Ala638Thr)
gnomAD v4
17g.46031653C>ACA399986082KANSL1c.3141G>T (p.Gln1047His)
c.3138G>T (p.Gln1046His)
c.2949G>T (p.Gln983His)
c.3009G>T (p.Gln1003His)
n.7358G>T
n.914G>T
n.1113G>T
c.3039G>T (p.Gln1013His)
c.2952G>T (p.Gln984His)
c.1911G>T (p.Gln637His)
ClinVar
17g.46031653C=CA2262110782KANSL1c.3141G= (p.Gln1047=)
c.3138G= (p.Gln1046=)
c.2949G= (p.Gln983=)
c.3009G= (p.Gln1003=)
n.7358G=
n.914G=
n.1113G=
c.3039G= (p.Gln1013=)
c.2952G= (p.Gln984=)
c.1911G= (p.Gln637=)
17g.46031653C>GCA315134KANSL1c.3141G>C (p.Gln1047His)
c.3138G>C (p.Gln1046His)
c.2949G>C (p.Gln983His)
c.3009G>C (p.Gln1003His)
n.7358G>C
n.914G>C
n.1113G>C
c.3039G>C (p.Gln1013His)
c.2952G>C (p.Gln984His)
c.1911G>C (p.Gln637His)
ClinVar dbSNP
17g.46031653C>TCA500371708KANSL1c.3141G>A (p.Gln1047=)
c.3138G>A (p.Gln1046=)
c.2949G>A (p.Gln983=)
c.3009G>A (p.Gln1003=)
n.7358G>A
n.914G>A
n.1113G>A
c.3039G>A (p.Gln1013=)
c.2952G>A (p.Gln984=)
c.1911G>A (p.Gln637=)
17g.46031654T>ACA399986083KANSL1c.3140A>T (p.Gln1047Leu)
c.3137A>T (p.Gln1046Leu)
c.2948A>T (p.Gln983Leu)
n.557A>T
c.3008A>T (p.Gln1003Leu)
n.7357A>T
n.913A>T
n.1112A>T
c.3038A>T (p.Gln1013Leu)
c.2951A>T (p.Gln984Leu)
c.1910A>T (p.Gln637Leu)
17g.46031654T>CCA8618359KANSL1c.3140A>G (p.Gln1047Arg)
c.3137A>G (p.Gln1046Arg)
c.2948A>G (p.Gln983Arg)
n.557A>G
c.3008A>G (p.Gln1003Arg)
n.7357A>G
n.913A>G
n.1112A>G
c.3038A>G (p.Gln1013Arg)
c.2951A>G (p.Gln984Arg)
c.1910A>G (p.Gln637Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46031654T>GCA399986084KANSL1c.3140A>C (p.Gln1047Pro)
c.3137A>C (p.Gln1046Pro)
c.2948A>C (p.Gln983Pro)
n.557A>C
c.3008A>C (p.Gln1003Pro)
n.7357A>C
n.913A>C
n.1112A>C
c.3038A>C (p.Gln1013Pro)
c.2951A>C (p.Gln984Pro)
c.1910A>C (p.Gln637Pro)
17g.46031654T=CA2262110783KANSL1c.3140A= (p.Gln1047=)
c.3137A= (p.Gln1046=)
c.2948A= (p.Gln983=)
n.557A=
c.3008A= (p.Gln1003=)
n.7357A=
n.913A=
n.1112A=
c.3038A= (p.Gln1013=)
c.2951A= (p.Gln984=)
c.1910A= (p.Gln637=)
17g.46031655G>ACA399986085KANSL1c.3139C>T (p.Gln1047Ter)
c.3136C>T (p.Gln1046Ter)
c.2947C>T (p.Gln983Ter)
n.556C>T
c.3007C>T (p.Gln1003Ter)
n.7356C>T
n.912C>T
n.1111C>T
c.3037C>T (p.Gln1013Ter)
c.2950C>T (p.Gln984Ter)
c.1909C>T (p.Gln637Ter)
17g.46031655G>CCA8618360KANSL1c.3139C>G (p.Gln1047Glu)
c.3136C>G (p.Gln1046Glu)
c.2947C>G (p.Gln983Glu)
n.556C>G
c.3007C>G (p.Gln1003Glu)
n.7356C>G
n.912C>G
n.1111C>G
c.3037C>G (p.Gln1013Glu)
c.2950C>G (p.Gln984Glu)
c.1909C>G (p.Gln637Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46031655G=CA2262110784KANSL1c.3139C= (p.Gln1047=)
c.3136C= (p.Gln1046=)
c.2947C= (p.Gln983=)
n.556C=
c.3007C= (p.Gln1003=)
n.7356C=
n.912C=
n.1111C=
c.3037C= (p.Gln1013=)
c.2950C= (p.Gln984=)
c.1909C= (p.Gln637=)
17g.46031655G>TCA399986086KANSL1c.3139C>A (p.Gln1047Lys)
c.3136C>A (p.Gln1046Lys)
c.2947C>A (p.Gln983Lys)
n.556C>A
c.3007C>A (p.Gln1003Lys)
n.7356C>A
n.912C>A
n.1111C>A
c.3037C>A (p.Gln1013Lys)
c.2950C>A (p.Gln984Lys)
c.1909C>A (p.Gln637Lys)
gnomAD v4

Number of alleles fetched