Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.46032094T>ACA399986419KANSL1c.3043A>T (p.Ser1015Cys)
c.3040A>T (p.Ser1014Cys)
c.2851A>T (p.Ser951Cys)
n.460A>T
c.2911A>T (p.Ser971Cys)
n.7260A>T
n.473A>T
n.1015A>T
c.2941A>T (p.Ser981Cys)
c.2854A>T (p.Ser952Cys)
c.1813A>T (p.Ser605Cys)
17g.46032094T>CCA399986420KANSL1c.3043A>G (p.Ser1015Gly)
c.3040A>G (p.Ser1014Gly)
c.2851A>G (p.Ser951Gly)
n.460A>G
c.2911A>G (p.Ser971Gly)
n.7260A>G
n.473A>G
n.1015A>G
c.2941A>G (p.Ser981Gly)
c.2854A>G (p.Ser952Gly)
c.1813A>G (p.Ser605Gly)
 ClinVar dbSNP gnomAD v4
17g.46032094T>GCA399986422KANSL1c.3043A>C (p.Ser1015Arg)
c.3040A>C (p.Ser1014Arg)
c.2851A>C (p.Ser951Arg)
n.460A>C
c.2911A>C (p.Ser971Arg)
n.7260A>C
n.473A>C
n.1015A>C
c.2941A>C (p.Ser981Arg)
c.2854A>C (p.Ser952Arg)
c.1813A>C (p.Ser605Arg)
17g.46032094T=CA2262111000KANSL1c.3043A= (p.Ser1015=)
c.3040A= (p.Ser1014=)
c.2851A= (p.Ser951=)
n.460A=
c.2911A= (p.Ser971=)
n.7260A=
n.473A=
n.1015A=
c.2941A= (p.Ser981=)
c.2854A= (p.Ser952=)
c.1813A= (p.Ser605=)
17g.46032095G>ACA500371942KANSL1c.3042C>T (p.Ala1014=)
c.3039C>T (p.Ala1013=)
c.2850C>T (p.Ala950=)
n.459C>T
c.2910C>T (p.Ala970=)
n.7259C>T
n.472C>T
n.1014C>T
c.2940C>T (p.Ala980=)
c.2853C>T (p.Ala951=)
c.1812C>T (p.Ala604=)
17g.46032095G>CCA500371944KANSL1c.3042C>G (p.Ala1014=)
c.3039C>G (p.Ala1013=)
c.2850C>G (p.Ala950=)
n.459C>G
c.2910C>G (p.Ala970=)
n.7259C>G
n.472C>G
n.1014C>G
c.2940C>G (p.Ala980=)
c.2853C>G (p.Ala951=)
c.1812C>G (p.Ala604=)
17g.46032095G>TCA500371943KANSL1c.3042C>A (p.Ala1014=)
c.3039C>A (p.Ala1013=)
c.2850C>A (p.Ala950=)
n.459C>A
c.2910C>A (p.Ala970=)
n.7259C>A
n.472C>A
n.1014C>A
c.2940C>A (p.Ala980=)
c.2853C>A (p.Ala951=)
c.1812C>A (p.Ala604=)
17g.46032096G>ACA399986424KANSL1c.3041C>T (p.Ala1014Val)
c.3038C>T (p.Ala1013Val)
c.2849C>T (p.Ala950Val)
n.458C>T
c.2909C>T (p.Ala970Val)
n.7258C>T
n.471C>T
n.1013C>T
c.2939C>T (p.Ala980Val)
c.2852C>T (p.Ala951Val)
c.1811C>T (p.Ala604Val)
17g.46032096G>CCA399986426KANSL1c.3041C>G (p.Ala1014Gly)
c.3038C>G (p.Ala1013Gly)
c.2849C>G (p.Ala950Gly)
n.458C>G
c.2909C>G (p.Ala970Gly)
n.7258C>G
n.471C>G
n.1013C>G
c.2939C>G (p.Ala980Gly)
c.2852C>G (p.Ala951Gly)
c.1811C>G (p.Ala604Gly)
17g.46032096G>TCA399986427KANSL1c.3041C>A (p.Ala1014Asp)
c.3038C>A (p.Ala1013Asp)
c.2849C>A (p.Ala950Asp)
n.458C>A
c.2909C>A (p.Ala970Asp)
n.7258C>A
n.471C>A
n.1013C>A
c.2939C>A (p.Ala980Asp)
c.2852C>A (p.Ala951Asp)
c.1811C>A (p.Ala604Asp)
17g.46032098_46032107delCA658781636KANSL1c.3032_3041del (p.Arg1011ProfsTer?)
c.3029_3038del (p.Arg1010ProfsTer?)
c.2840_2849del (p.Arg947ProfsTer?)
n.449_458del
c.2900_2909del (p.Arg967ProfsTer?)
n.7249_7258del
n.462_471del
n.1004_1013del
c.2930_2939del (p.Arg977ProfsTer?)
c.2843_2852del (p.Arg948ProfsTer?)
c.1802_1811del (p.Arg601ProfsTer?)
17g.46032097C>ACA399986430KANSL1c.3040G>T (p.Ala1014Ser)
c.3037G>T (p.Ala1013Ser)
c.2848G>T (p.Ala950Ser)
n.457G>T
c.2908G>T (p.Ala970Ser)
n.7257G>T
n.470G>T
n.1012G>T
c.2938G>T (p.Ala980Ser)
c.2851G>T (p.Ala951Ser)
c.1810G>T (p.Ala604Ser)
17g.46032097C>GCA399986431KANSL1c.3040G>C (p.Ala1014Pro)
c.3037G>C (p.Ala1013Pro)
c.2848G>C (p.Ala950Pro)
n.457G>C
c.2908G>C (p.Ala970Pro)
n.7257G>C
n.470G>C
n.1012G>C
c.2938G>C (p.Ala980Pro)
c.2851G>C (p.Ala951Pro)
c.1810G>C (p.Ala604Pro)
17g.46032097C>TCA399986433KANSL1c.3040G>A (p.Ala1014Thr)
c.3037G>A (p.Ala1013Thr)
c.2848G>A (p.Ala950Thr)
n.457G>A
c.2908G>A (p.Ala970Thr)
n.7257G>A
n.470G>A
n.1012G>A
c.2938G>A (p.Ala980Thr)
c.2851G>A (p.Ala951Thr)
c.1810G>A (p.Ala604Thr)
17g.46032098T>ACA399986437KANSL1c.3039A>T (p.Leu1013Phe)
c.3036A>T (p.Leu1012Phe)
c.2847A>T (p.Leu949Phe)
n.456A>T
c.2907A>T (p.Leu969Phe)
n.7256A>T
n.469A>T
n.1011A>T
c.2937A>T (p.Leu979Phe)
c.2850A>T (p.Leu950Phe)
c.1809A>T (p.Leu603Phe)
 gnomAD v4
17g.46032098T>CCA500371945KANSL1c.3039A>G (p.Leu1013=)
c.3036A>G (p.Leu1012=)
c.2847A>G (p.Leu949=)
n.456A>G
c.2907A>G (p.Leu969=)
n.7256A>G
n.469A>G
n.1011A>G
c.2937A>G (p.Leu979=)
c.2850A>G (p.Leu950=)
c.1809A>G (p.Leu603=)
17g.46032098T>GCA399986435KANSL1c.3039A>C (p.Leu1013Phe)
c.3036A>C (p.Leu1012Phe)
c.2847A>C (p.Leu949Phe)
n.456A>C
c.2907A>C (p.Leu969Phe)
n.7256A>C
n.469A>C
n.1011A>C
c.2937A>C (p.Leu979Phe)
c.2850A>C (p.Leu950Phe)
c.1809A>C (p.Leu603Phe)
17g.46032099A=CA2262111001KANSL1c.3038T= (p.Leu1013=)
c.3035T= (p.Leu1012=)
c.2846T= (p.Leu949=)
n.455T=
c.2906T= (p.Leu969=)
n.7255T=
n.468T=
n.1010T=
c.2936T= (p.Leu979=)
c.2849T= (p.Leu950=)
c.1808T= (p.Leu603=)
17g.46032099A>CCA399986439KANSL1c.3038T>G (p.Leu1013Ter)
c.3035T>G (p.Leu1012Ter)
c.2846T>G (p.Leu949Ter)
n.455T>G
c.2906T>G (p.Leu969Ter)
n.7255T>G
n.468T>G
n.1010T>G
c.2936T>G (p.Leu979Ter)
c.2849T>G (p.Leu950Ter)
c.1808T>G (p.Leu603Ter)
17g.46032099A>GCA8618395KANSL1c.3038T>C (p.Leu1013Ser)
c.3035T>C (p.Leu1012Ser)
c.2846T>C (p.Leu949Ser)
n.455T>C
c.2906T>C (p.Leu969Ser)
n.7255T>C
n.468T>C
n.1010T>C
c.2936T>C (p.Leu979Ser)
c.2849T>C (p.Leu950Ser)
c.1808T>C (p.Leu603Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032099A>TCA399986442KANSL1c.3038T>A (p.Leu1013Ter)
c.3035T>A (p.Leu1012Ter)
c.2846T>A (p.Leu949Ter)
n.455T>A
c.2906T>A (p.Leu969Ter)
n.7255T>A
n.468T>A
n.1010T>A
c.2936T>A (p.Leu979Ter)
c.2849T>A (p.Leu950Ter)
c.1808T>A (p.Leu603Ter)
17g.46032100A>CCA399986443KANSL1c.3037T>G (p.Leu1013Val)
c.3034T>G (p.Leu1012Val)
c.2845T>G (p.Leu949Val)
n.454T>G
c.2905T>G (p.Leu969Val)
n.7254T>G
n.467T>G
n.1009T>G
c.2935T>G (p.Leu979Val)
c.2848T>G (p.Leu950Val)
c.1807T>G (p.Leu603Val)
17g.46032100A>GCA500371946KANSL1c.3037T>C (p.Leu1013=)
c.3034T>C (p.Leu1012=)
c.2845T>C (p.Leu949=)
n.454T>C
c.2905T>C (p.Leu969=)
n.7254T>C
n.467T>C
n.1009T>C
c.2935T>C (p.Leu979=)
c.2848T>C (p.Leu950=)
c.1807T>C (p.Leu603=)
17g.46032100A>TCA399986445KANSL1c.3037T>A (p.Leu1013Ile)
c.3034T>A (p.Leu1012Ile)
c.2845T>A (p.Leu949Ile)
n.454T>A
c.2905T>A (p.Leu969Ile)
n.7254T>A
n.467T>A
n.1009T>A
c.2935T>A (p.Leu979Ile)
c.2848T>A (p.Leu950Ile)
c.1807T>A (p.Leu603Ile)
17g.46032101G>ACA500371947KANSL1c.3036C>T (p.His1012=)
c.3033C>T (p.His1011=)
c.2844C>T (p.His948=)
n.453C>T
c.2904C>T (p.His968=)
n.7253C>T
n.466C>T
n.1008C>T
c.2934C>T (p.His978=)
c.2847C>T (p.His949=)
c.1806C>T (p.His602=)
17g.46032101G>CCA399986448KANSL1c.3036C>G (p.His1012Gln)
c.3033C>G (p.His1011Gln)
c.2844C>G (p.His948Gln)
n.453C>G
c.2904C>G (p.His968Gln)
n.7253C>G
n.466C>G
n.1008C>G
c.2934C>G (p.His978Gln)
c.2847C>G (p.His949Gln)
c.1806C>G (p.His602Gln)
17g.46032101G>TCA399986449KANSL1c.3036C>A (p.His1012Gln)
c.3033C>A (p.His1011Gln)
c.2844C>A (p.His948Gln)
n.453C>A
c.2904C>A (p.His968Gln)
n.7253C>A
n.466C>A
n.1008C>A
c.2934C>A (p.His978Gln)
c.2847C>A (p.His949Gln)
c.1806C>A (p.His602Gln)
17g.46032102T>ACA399986451KANSL1c.3035A>T (p.His1012Leu)
c.3032A>T (p.His1011Leu)
c.2843A>T (p.His948Leu)
n.452A>T
c.2903A>T (p.His968Leu)
n.7252A>T
n.465A>T
n.1007A>T
c.2933A>T (p.His978Leu)
c.2846A>T (p.His949Leu)
c.1805A>T (p.His602Leu)
17g.46032102T>CCA16607297KANSL1c.3035A>G (p.His1012Arg)
c.3032A>G (p.His1011Arg)
c.2843A>G (p.His948Arg)
n.452A>G
c.2903A>G (p.His968Arg)
n.7252A>G
n.465A>G
n.1007A>G
c.2933A>G (p.His978Arg)
c.2846A>G (p.His949Arg)
c.1805A>G (p.His602Arg)
 ClinVar dbSNP
17g.46032102T>GCA399986453KANSL1c.3035A>C (p.His1012Pro)
c.3032A>C (p.His1011Pro)
c.2843A>C (p.His948Pro)
n.452A>C
c.2903A>C (p.His968Pro)
n.7252A>C
n.465A>C
n.1007A>C
c.2933A>C (p.His978Pro)
c.2846A>C (p.His949Pro)
c.1805A>C (p.His602Pro)
17g.46032102T=CA2262111002KANSL1c.3035A= (p.His1012=)
c.3032A= (p.His1011=)
c.2843A= (p.His948=)
n.452A=
c.2903A= (p.His968=)
n.7252A=
n.465A=
n.1007A=
c.2933A= (p.His978=)
c.2846A= (p.His949=)
c.1805A= (p.His602=)
17g.46032103G>ACA399986455KANSL1c.3034C>T (p.His1012Tyr)
c.3031C>T (p.His1011Tyr)
c.2842C>T (p.His948Tyr)
n.451C>T
c.2902C>T (p.His968Tyr)
n.7251C>T
n.464C>T
n.1006C>T
c.2932C>T (p.His978Tyr)
c.2845C>T (p.His949Tyr)
c.1804C>T (p.His602Tyr)
17g.46032103G>CCA399986457KANSL1c.3034C>G (p.His1012Asp)
c.3031C>G (p.His1011Asp)
c.2842C>G (p.His948Asp)
n.451C>G
c.2902C>G (p.His968Asp)
n.7251C>G
n.464C>G
n.1006C>G
c.2932C>G (p.His978Asp)
c.2845C>G (p.His949Asp)
c.1804C>G (p.His602Asp)
17g.46032103G>TCA399986458KANSL1c.3034C>A (p.His1012Asn)
c.3031C>A (p.His1011Asn)
c.2842C>A (p.His948Asn)
n.451C>A
c.2902C>A (p.His968Asn)
n.7251C>A
n.464C>A
n.1006C>A
c.2932C>A (p.His978Asn)
c.2845C>A (p.His949Asn)
c.1804C>A (p.His602Asn)
17g.46032104T>ACA500371949KANSL1c.3033A>T (p.Arg1011=)
c.3030A>T (p.Arg1010=)
c.2841A>T (p.Arg947=)
n.450A>T
c.2901A>T (p.Arg967=)
n.7250A>T
n.463A>T
n.1005A>T
c.2931A>T (p.Arg977=)
c.2844A>T (p.Arg948=)
c.1803A>T (p.Arg601=)
17g.46032104T>CCA500371950KANSL1c.3033A>G (p.Arg1011=)
c.3030A>G (p.Arg1010=)
c.2841A>G (p.Arg947=)
n.450A>G
c.2901A>G (p.Arg967=)
n.7250A>G
n.463A>G
n.1005A>G
c.2931A>G (p.Arg977=)
c.2844A>G (p.Arg948=)
c.1803A>G (p.Arg601=)
17g.46032104T>GCA500371948KANSL1c.3033A>C (p.Arg1011=)
c.3030A>C (p.Arg1010=)
c.2841A>C (p.Arg947=)
n.450A>C
c.2901A>C (p.Arg967=)
n.7250A>C
n.463A>C
n.1005A>C
c.2931A>C (p.Arg977=)
c.2844A>C (p.Arg948=)
c.1803A>C (p.Arg601=)
17g.46032105C>ACA399986464KANSL1c.3032G>T (p.Arg1011Leu)
c.3029G>T (p.Arg1010Leu)
c.2840G>T (p.Arg947Leu)
n.449G>T
c.2900G>T (p.Arg967Leu)
n.7249G>T
n.462G>T
n.1004G>T
c.2930G>T (p.Arg977Leu)
c.2843G>T (p.Arg948Leu)
c.1802G>T (p.Arg601Leu)
17g.46032105C>GCA399986462KANSL1c.3032G>C (p.Arg1011Pro)
c.3029G>C (p.Arg1010Pro)
c.2840G>C (p.Arg947Pro)
n.449G>C
c.2900G>C (p.Arg967Pro)
n.7249G>C
n.462G>C
n.1004G>C
c.2930G>C (p.Arg977Pro)
c.2843G>C (p.Arg948Pro)
c.1802G>C (p.Arg601Pro)
17g.46032105C>TCA399986461KANSL1c.3032G>A (p.Arg1011Gln)
c.3029G>A (p.Arg1010Gln)
c.2840G>A (p.Arg947Gln)
n.449G>A
c.2900G>A (p.Arg967Gln)
n.7249G>A
n.462G>A
n.1004G>A
c.2930G>A (p.Arg977Gln)
c.2843G>A (p.Arg948Gln)
c.1802G>A (p.Arg601Gln)
 gnomAD v4 COSMIC
17g.46032106G>ACA399986465KANSL1c.3031C>T (p.Arg1011Ter)
c.3028C>T (p.Arg1010Ter)
c.2839C>T (p.Arg947Ter)
n.448C>T
c.2899C>T (p.Arg967Ter)
n.7248C>T
n.461C>T
n.1003C>T
c.2929C>T (p.Arg977Ter)
c.2842C>T (p.Arg948Ter)
c.1801C>T (p.Arg601Ter)
 ClinVar dbSNP
17g.46032106G>CCA399986466KANSL1c.3031C>G (p.Arg1011Gly)
c.3028C>G (p.Arg1010Gly)
c.2839C>G (p.Arg947Gly)
n.448C>G
c.2899C>G (p.Arg967Gly)
n.7248C>G
n.461C>G
n.1003C>G
c.2929C>G (p.Arg977Gly)
c.2842C>G (p.Arg948Gly)
c.1801C>G (p.Arg601Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.46032106G=CA2262111003KANSL1c.3031C= (p.Arg1011=)
c.3028C= (p.Arg1010=)
c.2839C= (p.Arg947=)
n.448C=
c.2899C= (p.Arg967=)
n.7248C=
n.461C=
n.1003C=
c.2929C= (p.Arg977=)
c.2842C= (p.Arg948=)
c.1801C= (p.Arg601=)
17g.46032106G>TCA8618396KANSL1c.3031C>A (p.Arg1011=)
c.3028C>A (p.Arg1010=)
c.2839C>A (p.Arg947=)
n.448C>A
c.2899C>A (p.Arg967=)
n.7248C>A
n.461C>A
n.1003C>A
c.2929C>A (p.Arg977=)
c.2842C>A (p.Arg948=)
c.1801C>A (p.Arg601=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032107C>ACA500371951KANSL1c.3030G>T (p.Pro1010=)
c.3027G>T (p.Pro1009=)
c.2838G>T (p.Pro946=)
n.447G>T
c.2898G>T (p.Pro966=)
n.7247G>T
n.460G>T
n.1002G>T
c.2928G>T (p.Pro976=)
c.2841G>T (p.Pro947=)
c.1800G>T (p.Pro600=)
17g.46032107C=CA2262111004KANSL1c.3030G= (p.Pro1010=)
c.3027G= (p.Pro1009=)
c.2838G= (p.Pro946=)
n.447G=
c.2898G= (p.Pro966=)
n.7247G=
n.460G=
n.1002G=
c.2928G= (p.Pro976=)
c.2841G= (p.Pro947=)
c.1800G= (p.Pro600=)
17g.46032107C>GCA500371952KANSL1c.3030G>C (p.Pro1010=)
c.3027G>C (p.Pro1009=)
c.2838G>C (p.Pro946=)
n.447G>C
c.2898G>C (p.Pro966=)
n.7247G>C
n.460G>C
n.1002G>C
c.2928G>C (p.Pro976=)
c.2841G>C (p.Pro947=)
c.1800G>C (p.Pro600=)
17g.46032107C>TCA8618397KANSL1c.3030G>A (p.Pro1010=)
c.3027G>A (p.Pro1009=)
c.2838G>A (p.Pro946=)
n.447G>A
c.2898G>A (p.Pro966=)
n.7247G>A
n.460G>A
n.1002G>A
c.2928G>A (p.Pro976=)
c.2841G>A (p.Pro947=)
c.1800G>A (p.Pro600=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032108G>ACA8618398KANSL1c.3029C>T (p.Pro1010Leu)
c.3026C>T (p.Pro1009Leu)
c.2837C>T (p.Pro946Leu)
n.446C>T
c.2897C>T (p.Pro966Leu)
n.7246C>T
n.459C>T
n.1001C>T
c.2927C>T (p.Pro976Leu)
c.2840C>T (p.Pro947Leu)
c.1799C>T (p.Pro600Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032108G>CCA399986472KANSL1c.3029C>G (p.Pro1010Arg)
c.3026C>G (p.Pro1009Arg)
c.2837C>G (p.Pro946Arg)
n.446C>G
c.2897C>G (p.Pro966Arg)
n.7246C>G
n.459C>G
n.1001C>G
c.2927C>G (p.Pro976Arg)
c.2840C>G (p.Pro947Arg)
c.1799C>G (p.Pro600Arg)
17g.46032108G=CA2262111005KANSL1c.3029C= (p.Pro1010=)
c.3026C= (p.Pro1009=)
c.2837C= (p.Pro946=)
n.446C=
c.2897C= (p.Pro966=)
n.7246C=
n.459C=
n.1001C=
c.2927C= (p.Pro976=)
c.2840C= (p.Pro947=)
c.1799C= (p.Pro600=)
17g.46032108G>TCA399986473KANSL1c.3029C>A (p.Pro1010Gln)
c.3026C>A (p.Pro1009Gln)
c.2837C>A (p.Pro946Gln)
n.446C>A
c.2897C>A (p.Pro966Gln)
n.7246C>A
n.459C>A
n.1001C>A
c.2927C>A (p.Pro976Gln)
c.2840C>A (p.Pro947Gln)
c.1799C>A (p.Pro600Gln)
 gnomAD v4
17g.46032109G>ACA8618399KANSL1c.3028C>T (p.Pro1010Ser)
c.3025C>T (p.Pro1009Ser)
c.2836C>T (p.Pro946Ser)
n.445C>T
c.2896C>T (p.Pro966Ser)
n.7245C>T
n.458C>T
n.1000C>T
c.2926C>T (p.Pro976Ser)
c.2839C>T (p.Pro947Ser)
c.1798C>T (p.Pro600Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032109G>CCA291125846KANSL1c.3028C>G (p.Pro1010Ala)
c.3025C>G (p.Pro1009Ala)
c.2836C>G (p.Pro946Ala)
n.445C>G
c.2896C>G (p.Pro966Ala)
n.7245C>G
n.458C>G
n.1000C>G
c.2926C>G (p.Pro976Ala)
c.2839C>G (p.Pro947Ala)
c.1798C>G (p.Pro600Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46032109G=CA2262111006KANSL1c.3028C= (p.Pro1010=)
c.3025C= (p.Pro1009=)
c.2836C= (p.Pro946=)
n.445C=
c.2896C= (p.Pro966=)
n.7245C=
n.458C=
n.1000C=
c.2926C= (p.Pro976=)
c.2839C= (p.Pro947=)
c.1798C= (p.Pro600=)
17g.46032109G>TCA399986477KANSL1c.3028C>A (p.Pro1010Thr)
c.3025C>A (p.Pro1009Thr)
c.2836C>A (p.Pro946Thr)
n.445C>A
c.2896C>A (p.Pro966Thr)
n.7245C>A
n.458C>A
n.1000C>A
c.2926C>A (p.Pro976Thr)
c.2839C>A (p.Pro947Thr)
c.1798C>A (p.Pro600Thr)
 gnomAD v4
17g.46032110A=CA2262111007KANSL1c.3027T= (p.Thr1009=)
c.3024T= (p.Thr1008=)
c.2835T= (p.Thr945=)
n.444T=
c.2895T= (p.Thr965=)
n.7244T=
n.457T=
n.999T=
c.2925T= (p.Thr975=)
c.2838T= (p.Thr946=)
c.1797T= (p.Thr599=)
17g.46032110A>CCA8618401KANSL1c.3027T>G (p.Thr1009=)
c.3024T>G (p.Thr1008=)
c.2835T>G (p.Thr945=)
n.444T>G
c.2895T>G (p.Thr965=)
n.7244T>G
n.457T>G
n.999T>G
c.2925T>G (p.Thr975=)
c.2838T>G (p.Thr946=)
c.1797T>G (p.Thr599=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032110A>GCA500371953KANSL1c.3027T>C (p.Thr1009=)
c.3024T>C (p.Thr1008=)
c.2835T>C (p.Thr945=)
n.444T>C
c.2895T>C (p.Thr965=)
n.7244T>C
n.457T>C
n.999T>C
c.2925T>C (p.Thr975=)
c.2838T>C (p.Thr946=)
c.1797T>C (p.Thr599=)
17g.46032110A>TCA8618400KANSL1c.3027T>A (p.Thr1009=)
c.3024T>A (p.Thr1008=)
c.2835T>A (p.Thr945=)
n.444T>A
c.2895T>A (p.Thr965=)
n.7244T>A
n.457T>A
n.999T>A
c.2925T>A (p.Thr975=)
c.2838T>A (p.Thr946=)
c.1797T>A (p.Thr599=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032111G>ACA399986482KANSL1c.3026C>T (p.Thr1009Ile)
c.3023C>T (p.Thr1008Ile)
c.2834C>T (p.Thr945Ile)
n.443C>T
c.2894C>T (p.Thr965Ile)
n.7243C>T
n.456C>T
n.998C>T
c.2924C>T (p.Thr975Ile)
c.2837C>T (p.Thr946Ile)
c.1796C>T (p.Thr599Ile)
17g.46032111G>CCA399986483KANSL1c.3026C>G (p.Thr1009Ser)
c.3023C>G (p.Thr1008Ser)
c.2834C>G (p.Thr945Ser)
n.443C>G
c.2894C>G (p.Thr965Ser)
n.7243C>G
n.456C>G
n.998C>G
c.2924C>G (p.Thr975Ser)
c.2837C>G (p.Thr946Ser)
c.1796C>G (p.Thr599Ser)
17g.46032111G>TCA399986480KANSL1c.3026C>A (p.Thr1009Asn)
c.3023C>A (p.Thr1008Asn)
c.2834C>A (p.Thr945Asn)
n.443C>A
c.2894C>A (p.Thr965Asn)
n.7243C>A
n.456C>A
n.998C>A
c.2924C>A (p.Thr975Asn)
c.2837C>A (p.Thr946Asn)
c.1796C>A (p.Thr599Asn)
17g.46032112delCA2638372159KANSL1c.3025del (p.Thr1009LeufsTer5)
c.3022del (p.Thr1008LeufsTer5)
c.2833del (p.Thr945LeufsTer5)
n.442del
c.2893del (p.Thr965LeufsTer5)
n.7242del
n.455del
n.997del
c.2923del (p.Thr975LeufsTer5)
c.2836del (p.Thr946LeufsTer5)
c.1795del (p.Thr599LeufsTer5)
 gnomAD v4
17g.46032112T>ACA399986486KANSL1c.3025A>T (p.Thr1009Ser)
c.3022A>T (p.Thr1008Ser)
c.2833A>T (p.Thr945Ser)
n.442A>T
c.2893A>T (p.Thr965Ser)
n.7242A>T
n.455A>T
n.997A>T
c.2923A>T (p.Thr975Ser)
c.2836A>T (p.Thr946Ser)
c.1795A>T (p.Thr599Ser)
17g.46032112T>CCA399986488KANSL1c.3025A>G (p.Thr1009Ala)
c.3022A>G (p.Thr1008Ala)
c.2833A>G (p.Thr945Ala)
n.442A>G
c.2893A>G (p.Thr965Ala)
n.7242A>G
n.455A>G
n.997A>G
c.2923A>G (p.Thr975Ala)
c.2836A>G (p.Thr946Ala)
c.1795A>G (p.Thr599Ala)
 gnomAD v4
17g.46032112T>GCA8618402KANSL1c.3025A>C (p.Thr1009Pro)
c.3022A>C (p.Thr1008Pro)
c.2833A>C (p.Thr945Pro)
n.442A>C
c.2893A>C (p.Thr965Pro)
n.7242A>C
n.455A>C
n.997A>C
c.2923A>C (p.Thr975Pro)
c.2836A>C (p.Thr946Pro)
c.1795A>C (p.Thr599Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032112T=CA2262111008KANSL1c.3025A= (p.Thr1009=)
c.3022A= (p.Thr1008=)
c.2833A= (p.Thr945=)
n.442A=
c.2893A= (p.Thr965=)
n.7242A=
n.455A=
n.997A=
c.2923A= (p.Thr975=)
c.2836A= (p.Thr946=)
c.1795A= (p.Thr599=)
17g.46032113G>ACA500371954KANSL1c.3024C>T (p.Asp1008=)
c.3021C>T (p.Asp1007=)
c.2832C>T (p.Asp944=)
n.441C>T
c.2892C>T (p.Asp964=)
n.7241C>T
n.454C>T
n.996C>T
c.2922C>T (p.Asp974=)
c.2835C>T (p.Asp945=)
c.1794C>T (p.Asp598=)
17g.46032113G>CCA399986490KANSL1c.3024C>G (p.Asp1008Glu)
c.3021C>G (p.Asp1007Glu)
c.2832C>G (p.Asp944Glu)
n.441C>G
c.2892C>G (p.Asp964Glu)
n.7241C>G
n.454C>G
n.996C>G
c.2922C>G (p.Asp974Glu)
c.2835C>G (p.Asp945Glu)
c.1794C>G (p.Asp598Glu)
17g.46032113G>TCA399986492KANSL1c.3024C>A (p.Asp1008Glu)
c.3021C>A (p.Asp1007Glu)
c.2832C>A (p.Asp944Glu)
n.441C>A
c.2892C>A (p.Asp964Glu)
n.7241C>A
n.454C>A
n.996C>A
c.2922C>A (p.Asp974Glu)
c.2835C>A (p.Asp945Glu)
c.1794C>A (p.Asp598Glu)
17g.46032114T>ACA399986497KANSL1c.3023A>T (p.Asp1008Val)
c.3020A>T (p.Asp1007Val)
c.2831A>T (p.Asp944Val)
n.440A>T
c.2891A>T (p.Asp964Val)
n.7240A>T
n.453A>T
n.995A>T
c.2921A>T (p.Asp974Val)
c.2834A>T (p.Asp945Val)
c.1793A>T (p.Asp598Val)
17g.46032114T>CCA399986493KANSL1c.3023A>G (p.Asp1008Gly)
c.3020A>G (p.Asp1007Gly)
c.2831A>G (p.Asp944Gly)
n.440A>G
c.2891A>G (p.Asp964Gly)
n.7240A>G
n.453A>G
n.995A>G
c.2921A>G (p.Asp974Gly)
c.2834A>G (p.Asp945Gly)
c.1793A>G (p.Asp598Gly)
17g.46032114T>GCA399986495KANSL1c.3023A>C (p.Asp1008Ala)
c.3020A>C (p.Asp1007Ala)
c.2831A>C (p.Asp944Ala)
n.440A>C
c.2891A>C (p.Asp964Ala)
n.7240A>C
n.453A>C
n.995A>C
c.2921A>C (p.Asp974Ala)
c.2834A>C (p.Asp945Ala)
c.1793A>C (p.Asp598Ala)
17g.46032115C>ACA399986499KANSL1c.3022G>T (p.Asp1008Tyr)
c.3019G>T (p.Asp1007Tyr)
c.2830G>T (p.Asp944Tyr)
n.439G>T
c.2890G>T (p.Asp964Tyr)
n.7239G>T
n.452G>T
n.994G>T
c.2920G>T (p.Asp974Tyr)
c.2833G>T (p.Asp945Tyr)
c.1792G>T (p.Asp598Tyr)
17g.46032115C=CA2262111009KANSL1c.3022G= (p.Asp1008=)
c.3019G= (p.Asp1007=)
c.2830G= (p.Asp944=)
n.439G=
c.2890G= (p.Asp964=)
n.7239G=
n.452G=
n.994G=
c.2920G= (p.Asp974=)
c.2833G= (p.Asp945=)
c.1792G= (p.Asp598=)
17g.46032115C>GCA399986501KANSL1c.3022G>C (p.Asp1008His)
c.3019G>C (p.Asp1007His)
c.2830G>C (p.Asp944His)
n.439G>C
c.2890G>C (p.Asp964His)
n.7239G>C
n.452G>C
n.994G>C
c.2920G>C (p.Asp974His)
c.2833G>C (p.Asp945His)
c.1792G>C (p.Asp598His)
17g.46032115C>TCA399986503KANSL1c.3022G>A (p.Asp1008Asn)
c.3019G>A (p.Asp1007Asn)
c.2830G>A (p.Asp944Asn)
n.439G>A
c.2890G>A (p.Asp964Asn)
n.7239G>A
n.452G>A
n.994G>A
c.2920G>A (p.Asp974Asn)
c.2833G>A (p.Asp945Asn)
c.1792G>A (p.Asp598Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.46032116C>ACA500371957KANSL1c.3021G>T (p.Arg1007=)
c.3018G>T (p.Arg1006=)
c.2829G>T (p.Arg943=)
n.438G>T
c.2889G>T (p.Arg963=)
n.7238G>T
n.451G>T
n.993G>T
c.2919G>T (p.Arg973=)
c.2832G>T (p.Arg944=)
c.1791G>T (p.Arg597=)
 gnomAD v4
17g.46032116C>GCA500371955KANSL1c.3021G>C (p.Arg1007=)
c.3018G>C (p.Arg1006=)
c.2829G>C (p.Arg943=)
n.438G>C
c.2889G>C (p.Arg963=)
n.7238G>C
n.451G>C
n.993G>C
c.2919G>C (p.Arg973=)
c.2832G>C (p.Arg944=)
c.1791G>C (p.Arg597=)
17g.46032116C>TCA500371956KANSL1c.3021G>A (p.Arg1007=)
c.3018G>A (p.Arg1006=)
c.2829G>A (p.Arg943=)
n.438G>A
c.2889G>A (p.Arg963=)
n.7238G>A
n.451G>A
n.993G>A
c.2919G>A (p.Arg973=)
c.2832G>A (p.Arg944=)
c.1791G>A (p.Arg597=)
 gnomAD v4
17g.46032116_46032119delCA2638372167KANSL1c.3018_3021del (p.Arg1007ThrfsTer6)
c.3015_3018del (p.Arg1006ThrfsTer6)
c.2826_2829del (p.Arg943ThrfsTer6)
n.435_438del
c.2886_2889del (p.Arg963ThrfsTer6)
n.7235_7238del
n.448_451del
n.990_993del
c.2916_2919del (p.Arg973ThrfsTer6)
c.2829_2832del (p.Arg944ThrfsTer6)
c.1788_1791del (p.Arg597ThrfsTer6)
 gnomAD v4
17g.46032117C>ACA399986505KANSL1c.3020G>T (p.Arg1007Leu)
c.3017G>T (p.Arg1006Leu)
c.2828G>T (p.Arg943Leu)
c.677G>T
n.437G>T
c.2888G>T (p.Arg963Leu)
n.7237G>T
n.450G>T
n.992G>T
c.2918G>T (p.Arg973Leu)
c.2831G>T (p.Arg944Leu)
c.1790G>T (p.Arg597Leu)
17g.46032117C=CA2262111010KANSL1c.3020G= (p.Arg1007=)
c.3017G= (p.Arg1006=)
c.2828G= (p.Arg943=)
c.677G=
n.437G=
c.2888G= (p.Arg963=)
n.7237G=
n.450G=
n.992G=
c.2918G= (p.Arg973=)
c.2831G= (p.Arg944=)
c.1790G= (p.Arg597=)
17g.46032117C>GCA399986506KANSL1c.3020G>C (p.Arg1007Pro)
c.3017G>C (p.Arg1006Pro)
c.2828G>C (p.Arg943Pro)
c.677G>C
n.437G>C
c.2888G>C (p.Arg963Pro)
n.7237G>C
n.450G>C
n.992G>C
c.2918G>C (p.Arg973Pro)
c.2831G>C (p.Arg944Pro)
c.1790G>C (p.Arg597Pro)
 dbSNP
17g.46032117C>TCA8618403KANSL1c.3020G>A (p.Arg1007Gln)
c.3017G>A (p.Arg1006Gln)
c.2828G>A (p.Arg943Gln)
c.677G>A
n.437G>A
c.2888G>A (p.Arg963Gln)
n.7237G>A
n.450G>A
n.992G>A
c.2918G>A (p.Arg973Gln)
c.2831G>A (p.Arg944Gln)
c.1790G>A (p.Arg597Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032118G>ACA16607298KANSL1c.3019C>T (p.Arg1007Trp)
c.3016C>T (p.Arg1006Trp)
c.2827C>T (p.Arg943Trp)
c.676C>T
n.436C>T
c.2887C>T (p.Arg963Trp)
n.7236C>T
n.449C>T
n.991C>T
c.2917C>T (p.Arg973Trp)
c.2830C>T (p.Arg944Trp)
c.1789C>T (p.Arg597Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.46032118G>CCA399986509KANSL1c.3019C>G (p.Arg1007Gly)
c.3016C>G (p.Arg1006Gly)
c.2827C>G (p.Arg943Gly)
c.676C>G
n.436C>G
c.2887C>G (p.Arg963Gly)
n.7236C>G
n.449C>G
n.991C>G
c.2917C>G (p.Arg973Gly)
c.2830C>G (p.Arg944Gly)
c.1789C>G (p.Arg597Gly)
17g.46032118G=CA2262111011KANSL1c.3019C= (p.Arg1007=)
c.3016C= (p.Arg1006=)
c.2827C= (p.Arg943=)
c.676C=
n.436C=
c.2887C= (p.Arg963=)
n.7236C=
n.449C=
n.991C=
c.2917C= (p.Arg973=)
c.2830C= (p.Arg944=)
c.1789C= (p.Arg597=)
17g.46032118G>TCA500371958KANSL1c.3019C>A (p.Arg1007=)
c.3016C>A (p.Arg1006=)
c.2827C>A (p.Arg943=)
c.676C>A
n.436C>A
c.2887C>A (p.Arg963=)
n.7236C>A
n.449C>A
n.991C>A
c.2917C>A (p.Arg973=)
c.2830C>A (p.Arg944=)
c.1789C>A (p.Arg597=)
17g.46032119A=CA2262111012KANSL1c.3018T= (p.Ala1006=)
c.3015T= (p.Ala1005=)
c.2826T= (p.Ala942=)
c.675T= (p.Ala225=)
n.435T=
c.2886T= (p.Ala962=)
n.7235T=
n.448T=
n.990T=
c.2916T= (p.Ala972=)
c.2829T= (p.Ala943=)
c.1788T= (p.Ala596=)
17g.46032119A>CCA500371960KANSL1c.3018T>G (p.Ala1006=)
c.3015T>G (p.Ala1005=)
c.2826T>G (p.Ala942=)
c.675T>G (p.Ala225=)
n.435T>G
c.2886T>G (p.Ala962=)
n.7235T>G
n.448T>G
n.990T>G
c.2916T>G (p.Ala972=)
c.2829T>G (p.Ala943=)
c.1788T>G (p.Ala596=)
17g.46032119A>GCA500371959KANSL1c.3018T>C (p.Ala1006=)
c.3015T>C (p.Ala1005=)
c.2826T>C (p.Ala942=)
c.675T>C (p.Ala225=)
n.435T>C
c.2886T>C (p.Ala962=)
n.7235T>C
n.448T>C
n.990T>C
c.2916T>C (p.Ala972=)
c.2829T>C (p.Ala943=)
c.1788T>C (p.Ala596=)
 dbSNP gnomAD v4
17g.46032119A>TCA500371961KANSL1c.3018T>A (p.Ala1006=)
c.3015T>A (p.Ala1005=)
c.2826T>A (p.Ala942=)
c.675T>A (p.Ala225=)
n.435T>A
c.2886T>A (p.Ala962=)
n.7235T>A
n.448T>A
n.990T>A
c.2916T>A (p.Ala972=)
c.2829T>A (p.Ala943=)
c.1788T>A (p.Ala596=)
17g.46032120G>ACA399986511KANSL1c.3017C>T (p.Ala1006Val)
c.3014C>T (p.Ala1005Val)
c.2825C>T (p.Ala942Val)
c.674C>T (p.Ala225Val)
n.434C>T
c.2885C>T (p.Ala962Val)
n.7234C>T
n.447C>T
n.989C>T
c.2915C>T (p.Ala972Val)
c.2828C>T (p.Ala943Val)
c.1787C>T (p.Ala596Val)
17g.46032120G>CCA399986514KANSL1c.3017C>G (p.Ala1006Gly)
c.3014C>G (p.Ala1005Gly)
c.2825C>G (p.Ala942Gly)
c.674C>G (p.Ala225Gly)
n.434C>G
c.2885C>G (p.Ala962Gly)
n.7234C>G
n.447C>G
n.989C>G
c.2915C>G (p.Ala972Gly)
c.2828C>G (p.Ala943Gly)
c.1787C>G (p.Ala596Gly)
17g.46032120G>TCA399986513KANSL1c.3017C>A (p.Ala1006Asp)
c.3014C>A (p.Ala1005Asp)
c.2825C>A (p.Ala942Asp)
c.674C>A (p.Ala225Asp)
n.434C>A
c.2885C>A (p.Ala962Asp)
n.7234C>A
n.447C>A
n.989C>A
c.2915C>A (p.Ala972Asp)
c.2828C>A (p.Ala943Asp)
c.1787C>A (p.Ala596Asp)
17g.46032121C>ACA399986517KANSL1c.3016G>T (p.Ala1006Ser)
c.3013G>T (p.Ala1005Ser)
c.2824G>T (p.Ala942Ser)
c.673G>T (p.Ala225Ser)
n.433G>T
c.2884G>T (p.Ala962Ser)
n.7233G>T
n.446G>T
n.988G>T
c.2914G>T (p.Ala972Ser)
c.2827G>T (p.Ala943Ser)
c.1786G>T (p.Ala596Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46032121C=CA2262111013KANSL1c.3016G= (p.Ala1006=)
c.3013G= (p.Ala1005=)
c.2824G= (p.Ala942=)
c.673G= (p.Ala225=)
n.433G=
c.2884G= (p.Ala962=)
n.7233G=
n.446G=
n.988G=
c.2914G= (p.Ala972=)
c.2827G= (p.Ala943=)
c.1786G= (p.Ala596=)
17g.46032121C>GCA399986522KANSL1c.3016G>C (p.Ala1006Pro)
c.3013G>C (p.Ala1005Pro)
c.2824G>C (p.Ala942Pro)
c.673G>C (p.Ala225Pro)
n.433G>C
c.2884G>C (p.Ala962Pro)
n.7233G>C
n.446G>C
n.988G>C
c.2914G>C (p.Ala972Pro)
c.2827G>C (p.Ala943Pro)
c.1786G>C (p.Ala596Pro)
17g.46032121C>TCA399986519KANSL1c.3016G>A (p.Ala1006Thr)
c.3013G>A (p.Ala1005Thr)
c.2824G>A (p.Ala942Thr)
c.673G>A (p.Ala225Thr)
n.433G>A
c.2884G>A (p.Ala962Thr)
n.7233G>A
n.446G>A
n.988G>A
c.2914G>A (p.Ala972Thr)
c.2827G>A (p.Ala943Thr)
c.1786G>A (p.Ala596Thr)
17g.46032122C>ACA500371962KANSL1c.3015G>T (p.Val1005=)
c.3012G>T (p.Val1004=)
c.2823G>T (p.Val941=)
c.672G>T (p.Val224=)
n.432G>T
c.2883G>T (p.Val961=)
n.7232G>T
n.445G>T
n.987G>T
c.2913G>T (p.Val971=)
c.2826G>T (p.Val942=)
c.1785G>T (p.Val595=)
17g.46032122C>GCA500371964KANSL1c.3015G>C (p.Val1005=)
c.3012G>C (p.Val1004=)
c.2823G>C (p.Val941=)
c.672G>C (p.Val224=)
n.432G>C
c.2883G>C (p.Val961=)
n.7232G>C
n.445G>C
n.987G>C
c.2913G>C (p.Val971=)
c.2826G>C (p.Val942=)
c.1785G>C (p.Val595=)
17g.46032122C>TCA500371963KANSL1c.3015G>A (p.Val1005=)
c.3012G>A (p.Val1004=)
c.2823G>A (p.Val941=)
c.672G>A (p.Val224=)
n.432G>A
c.2883G>A (p.Val961=)
n.7232G>A
n.445G>A
n.987G>A
c.2913G>A (p.Val971=)
c.2826G>A (p.Val942=)
c.1785G>A (p.Val595=)
17g.46032122_46032123insGTATCATTAAACA2638372186KANSL1c.3014_3015insTTTAATGATAC (p.Ala1006LeufsTer12)
c.3011_3012insTTTAATGATAC (p.Ala1005LeufsTer12)
c.2822_2823insTTTAATGATAC (p.Ala942LeufsTer12)
c.671_672insTTTAATGATAC (p.Ala225LeufsTer?)
n.431_432insTTTAATGATAC
c.2882_2883insTTTAATGATAC (p.Ala962LeufsTer12)
n.7231_7232insTTTAATGATAC
n.444_445insTTTAATGATAC
n.986_987insTTTAATGATAC
c.2912_2913insTTTAATGATAC (p.Ala972LeufsTer12)
c.2825_2826insTTTAATGATAC (p.Ala943LeufsTer12)
c.1784_1785insTTTAATGATAC (p.Ala596LeufsTer12)
 gnomAD v4
17g.46032123A>CCA399986525KANSL1c.3014T>G (p.Val1005Gly)
c.3011T>G (p.Val1004Gly)
c.2822T>G (p.Val941Gly)
c.671T>G (p.Val224Gly)
n.431T>G
c.2882T>G (p.Val961Gly)
n.7231T>G
n.444T>G
n.986T>G
c.2912T>G (p.Val971Gly)
c.2825T>G (p.Val942Gly)
c.1784T>G (p.Val595Gly)
17g.46032123A>GCA399986528KANSL1c.3014T>C (p.Val1005Ala)
c.3011T>C (p.Val1004Ala)
c.2822T>C (p.Val941Ala)
c.671T>C (p.Val224Ala)
n.431T>C
c.2882T>C (p.Val961Ala)
n.7231T>C
n.444T>C
n.986T>C
c.2912T>C (p.Val971Ala)
c.2825T>C (p.Val942Ala)
c.1784T>C (p.Val595Ala)
17g.46032123A>TCA399986530KANSL1c.3014T>A (p.Val1005Glu)
c.3011T>A (p.Val1004Glu)
c.2822T>A (p.Val941Glu)
c.671T>A (p.Val224Glu)
n.431T>A
c.2882T>A (p.Val961Glu)
n.7231T>A
n.444T>A
n.986T>A
c.2912T>A (p.Val971Glu)
c.2825T>A (p.Val942Glu)
c.1784T>A (p.Val595Glu)
17g.46032124C>ACA399986533KANSL1c.3013G>T (p.Val1005Leu)
c.3010G>T (p.Val1004Leu)
c.2821G>T (p.Val941Leu)
c.670G>T (p.Val224Leu)
n.430G>T
c.2881G>T (p.Val961Leu)
n.7230G>T
n.443G>T
n.985G>T
c.2911G>T (p.Val971Leu)
c.2824G>T (p.Val942Leu)
c.1783G>T (p.Val595Leu)
 gnomAD v4
17g.46032124C>GCA399986536KANSL1c.3013G>C (p.Val1005Leu)
c.3010G>C (p.Val1004Leu)
c.2821G>C (p.Val941Leu)
c.670G>C (p.Val224Leu)
n.430G>C
c.2881G>C (p.Val961Leu)
n.7230G>C
n.443G>C
n.985G>C
c.2911G>C (p.Val971Leu)
c.2824G>C (p.Val942Leu)
c.1783G>C (p.Val595Leu)
17g.46032124C>TCA399986539KANSL1c.3013G>A (p.Val1005Met)
c.3010G>A (p.Val1004Met)
c.2821G>A (p.Val941Met)
c.670G>A (p.Val224Met)
n.430G>A
c.2881G>A (p.Val961Met)
n.7230G>A
n.443G>A
n.985G>A
c.2911G>A (p.Val971Met)
c.2824G>A (p.Val942Met)
c.1783G>A (p.Val595Met)
 gnomAD v4
17g.46032125A>CCA500371965KANSL1c.3012T>G (p.Pro1004=)
c.3009T>G (p.Pro1003=)
c.2820T>G (p.Pro940=)
c.669T>G (p.Pro223=)
n.429T>G
c.2880T>G (p.Pro960=)
n.7229T>G
n.442T>G
n.984T>G
c.2910T>G (p.Pro970=)
c.2823T>G (p.Pro941=)
c.1782T>G (p.Pro594=)
17g.46032125A>GCA500371967KANSL1c.3012T>C (p.Pro1004=)
c.3009T>C (p.Pro1003=)
c.2820T>C (p.Pro940=)
c.669T>C (p.Pro223=)
n.429T>C
c.2880T>C (p.Pro960=)
n.7229T>C
n.442T>C
n.984T>C
c.2910T>C (p.Pro970=)
c.2823T>C (p.Pro941=)
c.1782T>C (p.Pro594=)
 gnomAD v4 COSMIC
17g.46032125A>TCA500371966KANSL1c.3012T>A (p.Pro1004=)
c.3009T>A (p.Pro1003=)
c.2820T>A (p.Pro940=)
c.669T>A (p.Pro223=)
n.429T>A
c.2880T>A (p.Pro960=)
n.7229T>A
n.442T>A
n.984T>A
c.2910T>A (p.Pro970=)
c.2823T>A (p.Pro941=)
c.1782T>A (p.Pro594=)
17g.46032126G>ACA8618404KANSL1c.3011C>T (p.Pro1004Leu)
c.3008C>T (p.Pro1003Leu)
c.2819C>T (p.Pro940Leu)
c.668C>T (p.Pro223Leu)
n.428C>T
c.2879C>T (p.Pro960Leu)
n.7228C>T
n.441C>T
n.983C>T
c.2909C>T (p.Pro970Leu)
c.2822C>T (p.Pro941Leu)
c.1781C>T (p.Pro594Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032126G>CCA399986548KANSL1c.3011C>G (p.Pro1004Arg)
c.3008C>G (p.Pro1003Arg)
c.2819C>G (p.Pro940Arg)
c.668C>G (p.Pro223Arg)
n.428C>G
c.2879C>G (p.Pro960Arg)
n.7228C>G
n.441C>G
n.983C>G
c.2909C>G (p.Pro970Arg)
c.2822C>G (p.Pro941Arg)
c.1781C>G (p.Pro594Arg)
17g.46032126G=CA2262111014KANSL1c.3011C= (p.Pro1004=)
c.3008C= (p.Pro1003=)
c.2819C= (p.Pro940=)
c.668C= (p.Pro223=)
n.428C=
c.2879C= (p.Pro960=)
n.7228C=
n.441C=
n.983C=
c.2909C= (p.Pro970=)
c.2822C= (p.Pro941=)
c.1781C= (p.Pro594=)
17g.46032126G>TCA399986550KANSL1c.3011C>A (p.Pro1004His)
c.3008C>A (p.Pro1003His)
c.2819C>A (p.Pro940His)
c.668C>A (p.Pro223His)
n.428C>A
c.2879C>A (p.Pro960His)
n.7228C>A
n.441C>A
n.983C>A
c.2909C>A (p.Pro970His)
c.2822C>A (p.Pro941His)
c.1781C>A (p.Pro594His)
17g.46032129delCA2573054461KANSL1c.3011del (p.Pro1004LeufsTer10)
c.3008del (p.Pro1003LeufsTer10)
c.2819del (p.Pro940LeufsTer10)
c.668del (p.Pro223LeufsTer?)
n.428del
c.2879del (p.Pro960LeufsTer10)
n.7228del
n.441del
n.983del
c.2909del (p.Pro970LeufsTer10)
c.2822del (p.Pro941LeufsTer10)
c.1781del (p.Pro594LeufsTer10)
 ClinVar dbSNP
17g.46032127_46032136delCA2638372199KANSL1c.3002_3011del (p.Pro1001LeufsTer10)
c.2999_3008del (p.Pro1000LeufsTer10)
c.2810_2819del (p.Pro937LeufsTer10)
c.659_668del (p.Pro220LeufsTer?)
n.419_428del
c.2870_2879del (p.Pro957LeufsTer10)
n.7219_7228del
n.432_441del
n.974_983del
c.2900_2909del (p.Pro967LeufsTer10)
c.2813_2822del (p.Pro938LeufsTer10)
c.1772_1781del (p.Pro591LeufsTer10)
 gnomAD v4
17g.46032127G>ACA399986554KANSL1c.3010C>T (p.Pro1004Ser)
c.3007C>T (p.Pro1003Ser)
c.2818C>T (p.Pro940Ser)
c.667C>T (p.Pro223Ser)
n.427C>T
c.2878C>T (p.Pro960Ser)
n.7227C>T
n.440C>T
n.982C>T
c.2908C>T (p.Pro970Ser)
c.2821C>T (p.Pro941Ser)
c.1780C>T (p.Pro594Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.46032127G>CCA399986558KANSL1c.3010C>G (p.Pro1004Ala)
c.3007C>G (p.Pro1003Ala)
c.2818C>G (p.Pro940Ala)
c.667C>G (p.Pro223Ala)
n.427C>G
c.2878C>G (p.Pro960Ala)
n.7227C>G
n.440C>G
n.982C>G
c.2908C>G (p.Pro970Ala)
c.2821C>G (p.Pro941Ala)
c.1780C>G (p.Pro594Ala)
17g.46032127G=CA2262111015KANSL1c.3010C= (p.Pro1004=)
c.3007C= (p.Pro1003=)
c.2818C= (p.Pro940=)
c.667C= (p.Pro223=)
n.427C=
c.2878C= (p.Pro960=)
n.7227C=
n.440C=
n.982C=
c.2908C= (p.Pro970=)
c.2821C= (p.Pro941=)
c.1780C= (p.Pro594=)
17g.46032127G>TCA399986561KANSL1c.3010C>A (p.Pro1004Thr)
c.3007C>A (p.Pro1003Thr)
c.2818C>A (p.Pro940Thr)
c.667C>A (p.Pro223Thr)
n.427C>A
c.2878C>A (p.Pro960Thr)
n.7227C>A
n.440C>A
n.982C>A
c.2908C>A (p.Pro970Thr)
c.2821C>A (p.Pro941Thr)
c.1780C>A (p.Pro594Thr)
17g.46032128G>ACA500371969KANSL1c.3009C>T (p.Thr1003=)
c.3006C>T (p.Thr1002=)
c.2817C>T (p.Thr939=)
c.666C>T (p.Thr222=)
n.426C>T
c.2877C>T (p.Thr959=)
n.7226C>T
n.439C>T
n.981C>T
c.2907C>T (p.Thr969=)
c.2820C>T (p.Thr940=)
c.1779C>T (p.Thr593=)
17g.46032128G>CCA500371968KANSL1c.3009C>G (p.Thr1003=)
c.3006C>G (p.Thr1002=)
c.2817C>G (p.Thr939=)
c.666C>G (p.Thr222=)
n.426C>G
c.2877C>G (p.Thr959=)
n.7226C>G
n.439C>G
n.981C>G
c.2907C>G (p.Thr969=)
c.2820C>G (p.Thr940=)
c.1779C>G (p.Thr593=)
17g.46032128G>TCA500371970KANSL1c.3009C>A (p.Thr1003=)
c.3006C>A (p.Thr1002=)
c.2817C>A (p.Thr939=)
c.666C>A (p.Thr222=)
n.426C>A
c.2877C>A (p.Thr959=)
n.7226C>A
n.439C>A
n.981C>A
c.2907C>A (p.Thr969=)
c.2820C>A (p.Thr940=)
c.1779C>A (p.Thr593=)
17g.46032129G>ACA16608481KANSL1c.3008C>T (p.Thr1003Ile)
c.3005C>T (p.Thr1002Ile)
c.2816C>T (p.Thr939Ile)
c.665C>T (p.Thr222Ile)
n.425C>T
c.2876C>T (p.Thr959Ile)
n.7225C>T
n.438C>T
n.980C>T
c.2906C>T (p.Thr969Ile)
c.2819C>T (p.Thr940Ile)
c.1778C>T (p.Thr593Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46032129G>CCA8618405KANSL1c.3008C>G (p.Thr1003Ser)
c.3005C>G (p.Thr1002Ser)
c.2816C>G (p.Thr939Ser)
c.665C>G (p.Thr222Ser)
n.425C>G
c.2876C>G (p.Thr959Ser)
n.7225C>G
n.438C>G
n.980C>G
c.2906C>G (p.Thr969Ser)
c.2819C>G (p.Thr940Ser)
c.1778C>G (p.Thr593Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032129G=CA2262111016KANSL1c.3008C= (p.Thr1003=)
c.3005C= (p.Thr1002=)
c.2816C= (p.Thr939=)
c.665C= (p.Thr222=)
n.425C=
c.2876C= (p.Thr959=)
n.7225C=
n.438C=
n.980C=
c.2906C= (p.Thr969=)
c.2819C= (p.Thr940=)
c.1778C= (p.Thr593=)
17g.46032129G>TCA399986565KANSL1c.3008C>A (p.Thr1003Asn)
c.3005C>A (p.Thr1002Asn)
c.2816C>A (p.Thr939Asn)
c.665C>A (p.Thr222Asn)
n.425C>A
c.2876C>A (p.Thr959Asn)
n.7225C>A
n.438C>A
n.980C>A
c.2906C>A (p.Thr969Asn)
c.2819C>A (p.Thr940Asn)
c.1778C>A (p.Thr593Asn)
17g.46032130T>ACA399986569KANSL1c.3007A>T (p.Thr1003Ser)
c.3004A>T (p.Thr1002Ser)
c.2815A>T (p.Thr939Ser)
c.664A>T (p.Thr222Ser)
n.424A>T
c.2875A>T (p.Thr959Ser)
n.7224A>T
n.437A>T
n.979A>T
c.2905A>T (p.Thr969Ser)
c.2818A>T (p.Thr940Ser)
c.1777A>T (p.Thr593Ser)
17g.46032130T>CCA399986570KANSL1c.3007A>G (p.Thr1003Ala)
c.3004A>G (p.Thr1002Ala)
c.2815A>G (p.Thr939Ala)
c.664A>G (p.Thr222Ala)
n.424A>G
c.2875A>G (p.Thr959Ala)
n.7224A>G
n.437A>G
n.979A>G
c.2905A>G (p.Thr969Ala)
c.2818A>G (p.Thr940Ala)
c.1777A>G (p.Thr593Ala)
17g.46032130T>GCA399986574KANSL1c.3007A>C (p.Thr1003Pro)
c.3004A>C (p.Thr1002Pro)
c.2815A>C (p.Thr939Pro)
c.664A>C (p.Thr222Pro)
n.424A>C
c.2875A>C (p.Thr959Pro)
n.7224A>C
n.437A>C
n.979A>C
c.2905A>C (p.Thr969Pro)
c.2818A>C (p.Thr940Pro)
c.1777A>C (p.Thr593Pro)
 dbSNP
17g.46032131G>ACA500371972KANSL1c.3006C>T (p.Leu1002=)
c.3003C>T (p.Leu1001=)
c.2814C>T (p.Leu938=)
c.663C>T (p.Leu221=)
n.423C>T
c.2874C>T (p.Leu958=)
n.7223C>T
n.436C>T
n.978C>T
c.2904C>T (p.Leu968=)
c.2817C>T (p.Leu939=)
c.1776C>T (p.Leu592=)
 dbSNP gnomAD v4 COSMIC
17g.46032131G>CCA500371973KANSL1c.3006C>G (p.Leu1002=)
c.3003C>G (p.Leu1001=)
c.2814C>G (p.Leu938=)
c.663C>G (p.Leu221=)
n.423C>G
c.2874C>G (p.Leu958=)
n.7223C>G
n.436C>G
n.978C>G
c.2904C>G (p.Leu968=)
c.2817C>G (p.Leu939=)
c.1776C>G (p.Leu592=)
17g.46032131G=CA2262111017KANSL1c.3006C= (p.Leu1002=)
c.3003C= (p.Leu1001=)
c.2814C= (p.Leu938=)
c.663C= (p.Leu221=)
n.423C=
c.2874C= (p.Leu958=)
n.7223C=
n.436C=
n.978C=
c.2904C= (p.Leu968=)
c.2817C= (p.Leu939=)
c.1776C= (p.Leu592=)
17g.46032131G>TCA500371971KANSL1c.3006C>A (p.Leu1002=)
c.3003C>A (p.Leu1001=)
c.2814C>A (p.Leu938=)
c.663C>A (p.Leu221=)
n.423C>A
c.2874C>A (p.Leu958=)
n.7223C>A
n.436C>A
n.978C>A
c.2904C>A (p.Leu968=)
c.2817C>A (p.Leu939=)
c.1776C>A (p.Leu592=)
17g.46032132A>CCA399986577KANSL1c.3005T>G (p.Leu1002Arg)
c.3002T>G (p.Leu1001Arg)
c.2813T>G (p.Leu938Arg)
c.662T>G (p.Leu221Arg)
n.422T>G
c.2873T>G (p.Leu958Arg)
n.7222T>G
n.435T>G
n.977T>G
c.2903T>G (p.Leu968Arg)
c.2816T>G (p.Leu939Arg)
c.1775T>G (p.Leu592Arg)
17g.46032132A>GCA399986580KANSL1c.3005T>C (p.Leu1002Pro)
c.3002T>C (p.Leu1001Pro)
c.2813T>C (p.Leu938Pro)
c.662T>C (p.Leu221Pro)
n.422T>C
c.2873T>C (p.Leu958Pro)
n.7222T>C
n.435T>C
n.977T>C
c.2903T>C (p.Leu968Pro)
c.2816T>C (p.Leu939Pro)
c.1775T>C (p.Leu592Pro)
17g.46032132A>TCA399986583KANSL1c.3005T>A (p.Leu1002His)
c.3002T>A (p.Leu1001His)
c.2813T>A (p.Leu938His)
c.662T>A (p.Leu221His)
n.422T>A
c.2873T>A (p.Leu958His)
n.7222T>A
n.435T>A
n.977T>A
c.2903T>A (p.Leu968His)
c.2816T>A (p.Leu939His)
c.1775T>A (p.Leu592His)
 gnomAD v4
17g.46032133G>ACA399986587KANSL1c.3004C>T (p.Leu1002Phe)
c.3001C>T (p.Leu1001Phe)
c.2812C>T (p.Leu938Phe)
c.661C>T (p.Leu221Phe)
n.421C>T
c.2872C>T (p.Leu958Phe)
n.7221C>T
n.434C>T
n.976C>T
c.2902C>T (p.Leu968Phe)
c.2815C>T (p.Leu939Phe)
c.1774C>T (p.Leu592Phe)
 ClinVar gnomAD v4
17g.46032133G>CCA399986589KANSL1c.3004C>G (p.Leu1002Val)
c.3001C>G (p.Leu1001Val)
c.2812C>G (p.Leu938Val)
c.661C>G (p.Leu221Val)
n.421C>G
c.2872C>G (p.Leu958Val)
n.7221C>G
n.434C>G
n.976C>G
c.2902C>G (p.Leu968Val)
c.2815C>G (p.Leu939Val)
c.1774C>G (p.Leu592Val)
 dbSNP gnomAD v3 gnomAD v4
17g.46032133G=CA2262111018KANSL1c.3004C= (p.Leu1002=)
c.3001C= (p.Leu1001=)
c.2812C= (p.Leu938=)
c.661C= (p.Leu221=)
n.421C=
c.2872C= (p.Leu958=)
n.7221C=
n.434C=
n.976C=
c.2902C= (p.Leu968=)
c.2815C= (p.Leu939=)
c.1774C= (p.Leu592=)
17g.46032133G>TCA399986592KANSL1c.3004C>A (p.Leu1002Ile)
c.3001C>A (p.Leu1001Ile)
c.2812C>A (p.Leu938Ile)
c.661C>A (p.Leu221Ile)
n.421C>A
c.2872C>A (p.Leu958Ile)
n.7221C>A
n.434C>A
n.976C>A
c.2902C>A (p.Leu968Ile)
c.2815C>A (p.Leu939Ile)
c.1774C>A (p.Leu592Ile)
17g.46032134G>ACA8618406KANSL1c.3003C>T (p.Pro1001=)
c.3000C>T (p.Pro1000=)
c.2811C>T (p.Pro937=)
c.660C>T (p.Pro220=)
n.420C>T
c.2871C>T (p.Pro957=)
n.7220C>T
n.433C>T
n.975C>T
c.2901C>T (p.Pro967=)
c.2814C>T (p.Pro938=)
c.1773C>T (p.Pro591=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032134G>CCA500371976KANSL1c.3003C>G (p.Pro1001=)
c.3000C>G (p.Pro1000=)
c.2811C>G (p.Pro937=)
c.660C>G (p.Pro220=)
n.420C>G
c.2871C>G (p.Pro957=)
n.7220C>G
n.433C>G
n.975C>G
c.2901C>G (p.Pro967=)
c.2814C>G (p.Pro938=)
c.1773C>G (p.Pro591=)
17g.46032134G=CA2262111019KANSL1c.3003C= (p.Pro1001=)
c.3000C= (p.Pro1000=)
c.2811C= (p.Pro937=)
c.660C= (p.Pro220=)
n.420C=
c.2871C= (p.Pro957=)
n.7220C=
n.433C=
n.975C=
c.2901C= (p.Pro967=)
c.2814C= (p.Pro938=)
c.1773C= (p.Pro591=)
17g.46032134G>TCA500371975KANSL1c.3003C>A (p.Pro1001=)
c.3000C>A (p.Pro1000=)
c.2811C>A (p.Pro937=)
c.660C>A (p.Pro220=)
n.420C>A
c.2871C>A (p.Pro957=)
n.7220C>A
n.433C>A
n.975C>A
c.2901C>A (p.Pro967=)
c.2814C>A (p.Pro938=)
c.1773C>A (p.Pro591=)
17g.46032135G>ACA16607657KANSL1c.3002C>T (p.Pro1001Leu)
c.2999C>T (p.Pro1000Leu)
c.2810C>T (p.Pro937Leu)
c.659C>T (p.Pro220Leu)
n.419C>T
c.2870C>T (p.Pro957Leu)
n.7219C>T
n.432C>T
n.974C>T
c.2900C>T (p.Pro967Leu)
c.2813C>T (p.Pro938Leu)
c.1772C>T (p.Pro591Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46032135G>CCA399986601KANSL1c.3002C>G (p.Pro1001Arg)
c.2999C>G (p.Pro1000Arg)
c.2810C>G (p.Pro937Arg)
c.659C>G (p.Pro220Arg)
n.419C>G
c.2870C>G (p.Pro957Arg)
n.7219C>G
n.432C>G
n.974C>G
c.2900C>G (p.Pro967Arg)
c.2813C>G (p.Pro938Arg)
c.1772C>G (p.Pro591Arg)
17g.46032135G=CA2262111020KANSL1c.3002C= (p.Pro1001=)
c.2999C= (p.Pro1000=)
c.2810C= (p.Pro937=)
c.659C= (p.Pro220=)
n.419C=
c.2870C= (p.Pro957=)
n.7219C=
n.432C=
n.974C=
c.2900C= (p.Pro967=)
c.2813C= (p.Pro938=)
c.1772C= (p.Pro591=)
17g.46032135G>TCA399986599KANSL1c.3002C>A (p.Pro1001His)
c.2999C>A (p.Pro1000His)
c.2810C>A (p.Pro937His)
c.659C>A (p.Pro220His)
n.419C>A
c.2870C>A (p.Pro957His)
n.7219C>A
n.432C>A
n.974C>A
c.2900C>A (p.Pro967His)
c.2813C>A (p.Pro938His)
c.1772C>A (p.Pro591His)
 dbSNP gnomAD v2 gnomAD v4
17g.46032136G>ACA399986606KANSL1c.3001C>T (p.Pro1001Ser)
c.2998C>T (p.Pro1000Ser)
c.2809C>T (p.Pro937Ser)
c.658C>T (p.Pro220Ser)
n.418C>T
c.2869C>T (p.Pro957Ser)
n.7218C>T
n.431C>T
n.973C>T
c.2899C>T (p.Pro967Ser)
c.2812C>T (p.Pro938Ser)
c.1771C>T (p.Pro591Ser)
17g.46032136G>CCA399986608KANSL1c.3001C>G (p.Pro1001Ala)
c.2998C>G (p.Pro1000Ala)
c.2809C>G (p.Pro937Ala)
c.658C>G (p.Pro220Ala)
n.418C>G
c.2869C>G (p.Pro957Ala)
n.7218C>G
n.431C>G
n.973C>G
c.2899C>G (p.Pro967Ala)
c.2812C>G (p.Pro938Ala)
c.1771C>G (p.Pro591Ala)
17g.46032136G>TCA399986611KANSL1c.3001C>A (p.Pro1001Thr)
c.2998C>A (p.Pro1000Thr)
c.2809C>A (p.Pro937Thr)
c.658C>A (p.Pro220Thr)
n.418C>A
c.2869C>A (p.Pro957Thr)
n.7218C>A
n.431C>A
n.973C>A
c.2899C>A (p.Pro967Thr)
c.2812C>A (p.Pro938Thr)
c.1771C>A (p.Pro591Thr)
17g.46032137T>ACA500371978KANSL1c.3000A>T (p.Ala1000=)
c.2997A>T (p.Ala999=)
c.2808A>T (p.Ala936=)
c.657A>T (p.Ala219=)
n.417A>T
c.2868A>T (p.Ala956=)
n.7217A>T
n.430A>T
n.972A>T
c.2898A>T (p.Ala966=)
c.2811A>T (p.Ala937=)
c.1770A>T (p.Ala590=)
17g.46032137T>CCA500371979KANSL1c.3000A>G (p.Ala1000=)
c.2997A>G (p.Ala999=)
c.2808A>G (p.Ala936=)
c.657A>G (p.Ala219=)
n.417A>G
c.2868A>G (p.Ala956=)
n.7217A>G
n.430A>G
n.972A>G
c.2898A>G (p.Ala966=)
c.2811A>G (p.Ala937=)
c.1770A>G (p.Ala590=)
17g.46032137T>GCA500371977KANSL1c.3000A>C (p.Ala1000=)
c.2997A>C (p.Ala999=)
c.2808A>C (p.Ala936=)
c.657A>C (p.Ala219=)
n.417A>C
c.2868A>C (p.Ala956=)
n.7217A>C
n.430A>C
n.972A>C
c.2898A>C (p.Ala966=)
c.2811A>C (p.Ala937=)
c.1770A>C (p.Ala590=)
 gnomAD v3 gnomAD v4
17g.46032138G>ACA399986614KANSL1c.2999C>T (p.Ala1000Val)
c.2996C>T (p.Ala999Val)
c.2807C>T (p.Ala936Val)
c.656C>T (p.Ala219Val)
n.416C>T
c.2867C>T (p.Ala956Val)
n.7216C>T
n.429C>T
n.971C>T
c.2897C>T (p.Ala966Val)
c.2810C>T (p.Ala937Val)
c.1769C>T (p.Ala590Val)
17g.46032138G>CCA399986617KANSL1c.2999C>G (p.Ala1000Gly)
c.2996C>G (p.Ala999Gly)
c.2807C>G (p.Ala936Gly)
c.656C>G (p.Ala219Gly)
n.416C>G
c.2867C>G (p.Ala956Gly)
n.7216C>G
n.429C>G
n.971C>G
c.2897C>G (p.Ala966Gly)
c.2810C>G (p.Ala937Gly)
c.1769C>G (p.Ala590Gly)
17g.46032138G>TCA399986619KANSL1c.2999C>A (p.Ala1000Glu)
c.2996C>A (p.Ala999Glu)
c.2807C>A (p.Ala936Glu)
c.656C>A (p.Ala219Glu)
n.416C>A
c.2867C>A (p.Ala956Glu)
n.7216C>A
n.429C>A
n.971C>A
c.2897C>A (p.Ala966Glu)
c.2810C>A (p.Ala937Glu)
c.1769C>A (p.Ala590Glu)
17g.46032139C>ACA399986623KANSL1c.2998G>T (p.Ala1000Ser)
c.2995G>T (p.Ala999Ser)
c.2806G>T (p.Ala936Ser)
c.655G>T (p.Ala219Ser)
n.415G>T
c.2866G>T (p.Ala956Ser)
n.7215G>T
n.428G>T
n.970G>T
c.2896G>T (p.Ala966Ser)
c.2809G>T (p.Ala937Ser)
c.1768G>T (p.Ala590Ser)
17g.46032139C>GCA399986625KANSL1c.2998G>C (p.Ala1000Pro)
c.2995G>C (p.Ala999Pro)
c.2806G>C (p.Ala936Pro)
c.655G>C (p.Ala219Pro)
n.415G>C
c.2866G>C (p.Ala956Pro)
n.7215G>C
n.428G>C
n.970G>C
c.2896G>C (p.Ala966Pro)
c.2809G>C (p.Ala937Pro)
c.1768G>C (p.Ala590Pro)
17g.46032139C>TCA399986629KANSL1c.2998G>A (p.Ala1000Thr)
c.2995G>A (p.Ala999Thr)
c.2806G>A (p.Ala936Thr)
c.655G>A (p.Ala219Thr)
n.415G>A
c.2866G>A (p.Ala956Thr)
n.7215G>A
n.428G>A
n.970G>A
c.2896G>A (p.Ala966Thr)
c.2809G>A (p.Ala937Thr)
c.1768G>A (p.Ala590Thr)
 ClinVar
17g.46032140T>ACA500371982KANSL1c.2997A>T (p.Ser999=)
c.2994A>T (p.Ser998=)
c.2805A>T (p.Ser935=)
c.654A>T (p.Ser218=)
n.414A>T
c.2865A>T (p.Ser955=)
n.7214A>T
n.427A>T
n.969A>T
c.2895A>T (p.Ser965=)
c.2808A>T (p.Ser936=)
c.1767A>T (p.Ser589=)
17g.46032140T>CCA500371980KANSL1c.2997A>G (p.Ser999=)
c.2994A>G (p.Ser998=)
c.2805A>G (p.Ser935=)
c.654A>G (p.Ser218=)
n.414A>G
c.2865A>G (p.Ser955=)
n.7214A>G
n.427A>G
n.969A>G
c.2895A>G (p.Ser965=)
c.2808A>G (p.Ser936=)
c.1767A>G (p.Ser589=)
17g.46032140T>GCA500371981KANSL1c.2997A>C (p.Ser999=)
c.2994A>C (p.Ser998=)
c.2805A>C (p.Ser935=)
c.654A>C (p.Ser218=)
n.414A>C
c.2865A>C (p.Ser955=)
n.7214A>C
n.427A>C
n.969A>C
c.2895A>C (p.Ser965=)
c.2808A>C (p.Ser936=)
c.1767A>C (p.Ser589=)
17g.46032141G>ACA399986632KANSL1c.2996C>T (p.Ser999Leu)
c.2993C>T (p.Ser998Leu)
c.2804C>T (p.Ser935Leu)
c.653C>T (p.Ser218Leu)
n.413C>T
c.2864C>T (p.Ser955Leu)
n.7213C>T
n.426C>T
n.968C>T
c.2894C>T (p.Ser965Leu)
c.2807C>T (p.Ser936Leu)
c.1766C>T (p.Ser589Leu)
17g.46032141G>CCA399986635KANSL1c.2996C>G (p.Ser999Ter)
c.2993C>G (p.Ser998Ter)
c.2804C>G (p.Ser935Ter)
c.653C>G (p.Ser218Ter)
n.413C>G
c.2864C>G (p.Ser955Ter)
n.7213C>G
n.426C>G
n.968C>G
c.2894C>G (p.Ser965Ter)
c.2807C>G (p.Ser936Ter)
c.1766C>G (p.Ser589Ter)
 COSMIC
17g.46032141G>TCA399986639KANSL1c.2996C>A (p.Ser999Ter)
c.2993C>A (p.Ser998Ter)
c.2804C>A (p.Ser935Ter)
c.653C>A (p.Ser218Ter)
n.413C>A
c.2864C>A (p.Ser955Ter)
n.7213C>A
n.426C>A
n.968C>A
c.2894C>A (p.Ser965Ter)
c.2807C>A (p.Ser936Ter)
c.1766C>A (p.Ser589Ter)
17g.46032142A>CCA399986649KANSL1c.2995T>G (p.Ser999Ala)
c.2992T>G (p.Ser998Ala)
c.2803T>G (p.Ser935Ala)
c.652T>G (p.Ser218Ala)
n.412T>G
c.2863T>G (p.Ser955Ala)
n.7212T>G
n.425T>G
n.967T>G
c.2893T>G (p.Ser965Ala)
c.2806T>G (p.Ser936Ala)
c.1765T>G (p.Ser589Ala)
17g.46032142A>GCA399986644KANSL1c.2995T>C (p.Ser999Pro)
c.2992T>C (p.Ser998Pro)
c.2803T>C (p.Ser935Pro)
c.652T>C (p.Ser218Pro)
n.412T>C
c.2863T>C (p.Ser955Pro)
n.7212T>C
n.425T>C
n.967T>C
c.2893T>C (p.Ser965Pro)
c.2806T>C (p.Ser936Pro)
c.1765T>C (p.Ser589Pro)
 gnomAD v4
17g.46032142A>TCA399986647KANSL1c.2995T>A (p.Ser999Thr)
c.2992T>A (p.Ser998Thr)
c.2803T>A (p.Ser935Thr)
c.652T>A (p.Ser218Thr)
n.412T>A
c.2863T>A (p.Ser955Thr)
n.7212T>A
n.425T>A
n.967T>A
c.2893T>A (p.Ser965Thr)
c.2806T>A (p.Ser936Thr)
c.1765T>A (p.Ser589Thr)
17g.46032143G>ACA500371983KANSL1c.2994C>T (p.His998=)
c.2991C>T (p.His997=)
c.2802C>T (p.His934=)
c.651C>T (p.His217=)
n.411C>T
c.2862C>T (p.His954=)
n.7211C>T
n.424C>T
n.966C>T
c.2892C>T (p.His964=)
c.2805C>T (p.His935=)
c.1764C>T (p.His588=)
 ClinVar dbSNP
17g.46032143G>CCA399986653KANSL1c.2994C>G (p.His998Gln)
c.2991C>G (p.His997Gln)
c.2802C>G (p.His934Gln)
c.651C>G (p.His217Gln)
n.411C>G
c.2862C>G (p.His954Gln)
n.7211C>G
n.424C>G
n.966C>G
c.2892C>G (p.His964Gln)
c.2805C>G (p.His935Gln)
c.1764C>G (p.His588Gln)
17g.46032143G=CA2262111021KANSL1c.2994C= (p.His998=)
c.2991C= (p.His997=)
c.2802C= (p.His934=)
c.651C= (p.His217=)
n.411C=
c.2862C= (p.His954=)
n.7211C=
n.424C=
n.966C=
c.2892C= (p.His964=)
c.2805C= (p.His935=)
c.1764C= (p.His588=)
17g.46032143G>TCA399986656KANSL1c.2994C>A (p.His998Gln)
c.2991C>A (p.His997Gln)
c.2802C>A (p.His934Gln)
c.651C>A (p.His217Gln)
n.411C>A
c.2862C>A (p.His954Gln)
n.7211C>A
n.424C>A
n.966C>A
c.2892C>A (p.His964Gln)
c.2805C>A (p.His935Gln)
c.1764C>A (p.His588Gln)
17g.46032144T>ACA399986659KANSL1c.2993A>T (p.His998Leu)
c.2990A>T (p.His997Leu)
c.2801A>T (p.His934Leu)
c.650A>T (p.His217Leu)
n.410A>T
c.2861A>T (p.His954Leu)
n.7210A>T
n.423A>T
n.965A>T
c.2891A>T (p.His964Leu)
c.2804A>T (p.His935Leu)
c.1763A>T (p.His588Leu)
17g.46032144T>CCA399986662KANSL1c.2993A>G (p.His998Arg)
c.2990A>G (p.His997Arg)
c.2801A>G (p.His934Arg)
c.650A>G (p.His217Arg)
n.410A>G
c.2861A>G (p.His954Arg)
n.7210A>G
n.423A>G
n.965A>G
c.2891A>G (p.His964Arg)
c.2804A>G (p.His935Arg)
c.1763A>G (p.His588Arg)
 ClinVar
17g.46032144T>GCA399986664KANSL1c.2993A>C (p.His998Pro)
c.2990A>C (p.His997Pro)
c.2801A>C (p.His934Pro)
c.650A>C (p.His217Pro)
n.410A>C
c.2861A>C (p.His954Pro)
n.7210A>C
n.423A>C
n.965A>C
c.2891A>C (p.His964Pro)
c.2804A>C (p.His935Pro)
c.1763A>C (p.His588Pro)
17g.46032145G>ACA399986668KANSL1c.2992C>T (p.His998Tyr)
c.2989C>T (p.His997Tyr)
c.2800C>T (p.His934Tyr)
c.649C>T (p.His217Tyr)
n.409C>T
c.2860C>T (p.His954Tyr)
n.7209C>T
n.422C>T
n.964C>T
c.2890C>T (p.His964Tyr)
c.2803C>T (p.His935Tyr)
c.1762C>T (p.His588Tyr)
 dbSNP gnomAD v2
17g.46032145G>CCA399986670KANSL1c.2992C>G (p.His998Asp)
c.2989C>G (p.His997Asp)
c.2800C>G (p.His934Asp)
c.649C>G (p.His217Asp)
n.409C>G
c.2860C>G (p.His954Asp)
n.7209C>G
n.422C>G
n.964C>G
c.2890C>G (p.His964Asp)
c.2803C>G (p.His935Asp)
c.1762C>G (p.His588Asp)
17g.46032145G=CA2262111022KANSL1c.2992C= (p.His998=)
c.2989C= (p.His997=)
c.2800C= (p.His934=)
c.649C= (p.His217=)
n.409C=
c.2860C= (p.His954=)
n.7209C=
n.422C=
n.964C=
c.2890C= (p.His964=)
c.2803C= (p.His935=)
c.1762C= (p.His588=)
17g.46032145G>TCA399986673KANSL1c.2992C>A (p.His998Asn)
c.2989C>A (p.His997Asn)
c.2800C>A (p.His934Asn)
c.649C>A (p.His217Asn)
n.409C>A
c.2860C>A (p.His954Asn)
n.7209C>A
n.422C>A
n.964C>A
c.2890C>A (p.His964Asn)
c.2803C>A (p.His935Asn)
c.1762C>A (p.His588Asn)
17g.46032146C>ACA500371984KANSL1c.2991G>T (p.Leu997=)
c.2988G>T (p.Leu996=)
c.2799G>T (p.Leu933=)
c.648G>T (p.Leu216=)
n.408G>T
c.2859G>T (p.Leu953=)
n.7208G>T
n.421G>T
n.963G>T
c.2889G>T (p.Leu963=)
c.2802G>T (p.Leu934=)
c.1761G>T (p.Leu587=)
17g.46032146C=CA2262111023KANSL1c.2991G= (p.Leu997=)
c.2988G= (p.Leu996=)
c.2799G= (p.Leu933=)
c.648G= (p.Leu216=)
n.408G=
c.2859G= (p.Leu953=)
n.7208G=
n.421G=
n.963G=
c.2889G= (p.Leu963=)
c.2802G= (p.Leu934=)
c.1761G= (p.Leu587=)
17g.46032146C>GCA500371985KANSL1c.2991G>C (p.Leu997=)
c.2988G>C (p.Leu996=)
c.2799G>C (p.Leu933=)
c.648G>C (p.Leu216=)
n.408G>C
c.2859G>C (p.Leu953=)
n.7208G>C
n.421G>C
n.963G>C
c.2889G>C (p.Leu963=)
c.2802G>C (p.Leu934=)
c.1761G>C (p.Leu587=)
17g.46032146C>TCA8618407KANSL1c.2991G>A (p.Leu997=)
c.2988G>A (p.Leu996=)
c.2799G>A (p.Leu933=)
c.648G>A (p.Leu216=)
n.408G>A
c.2859G>A (p.Leu953=)
n.7208G>A
n.421G>A
n.963G>A
c.2889G>A (p.Leu963=)
c.2802G>A (p.Leu934=)
c.1761G>A (p.Leu587=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032147A>CCA399986679KANSL1c.2990T>G (p.Leu997Arg)
c.2987T>G (p.Leu996Arg)
c.2798T>G (p.Leu933Arg)
c.647T>G (p.Leu216Arg)
n.407T>G
c.2858T>G (p.Leu953Arg)
n.7207T>G
n.420T>G
n.962T>G
c.2888T>G (p.Leu963Arg)
c.2801T>G (p.Leu934Arg)
c.1760T>G (p.Leu587Arg)
17g.46032147A>GCA399986681KANSL1c.2990T>C (p.Leu997Pro)
c.2987T>C (p.Leu996Pro)
c.2798T>C (p.Leu933Pro)
c.647T>C (p.Leu216Pro)
n.407T>C
c.2858T>C (p.Leu953Pro)
n.7207T>C
n.420T>C
n.962T>C
c.2888T>C (p.Leu963Pro)
c.2801T>C (p.Leu934Pro)
c.1760T>C (p.Leu587Pro)
17g.46032147A>TCA399986684KANSL1c.2990T>A (p.Leu997Gln)
c.2987T>A (p.Leu996Gln)
c.2798T>A (p.Leu933Gln)
c.647T>A (p.Leu216Gln)
n.407T>A
c.2858T>A (p.Leu953Gln)
n.7207T>A
n.420T>A
n.962T>A
c.2888T>A (p.Leu963Gln)
c.2801T>A (p.Leu934Gln)
c.1760T>A (p.Leu587Gln)
17g.46032148G>ACA500371986KANSL1c.2989C>T (p.Leu997=)
c.2986C>T (p.Leu996=)
c.2797C>T (p.Leu933=)
c.646C>T (p.Leu216=)
n.406C>T
c.2857C>T (p.Leu953=)
n.7206C>T
n.419C>T
n.961C>T
c.2887C>T (p.Leu963=)
c.2800C>T (p.Leu934=)
c.1759C>T (p.Leu587=)
 gnomAD v4
17g.46032148G>CCA399986690KANSL1c.2989C>G (p.Leu997Val)
c.2986C>G (p.Leu996Val)
c.2797C>G (p.Leu933Val)
c.646C>G (p.Leu216Val)
n.406C>G
c.2857C>G (p.Leu953Val)
n.7206C>G
n.419C>G
n.961C>G
c.2887C>G (p.Leu963Val)
c.2800C>G (p.Leu934Val)
c.1759C>G (p.Leu587Val)
 gnomAD v4
17g.46032148G>TCA399986688KANSL1c.2989C>A (p.Leu997Met)
c.2986C>A (p.Leu996Met)
c.2797C>A (p.Leu933Met)
c.646C>A (p.Leu216Met)
n.406C>A
c.2857C>A (p.Leu953Met)
n.7206C>A
n.419C>A
n.961C>A
c.2887C>A (p.Leu963Met)
c.2800C>A (p.Leu934Met)
c.1759C>A (p.Leu587Met)
17g.46032149T>ACA399986694KANSL1c.2988A>T (p.Glu996Asp)
c.2985A>T (p.Glu995Asp)
c.2796A>T (p.Glu932Asp)
c.645A>T (p.Glu215Asp)
n.405A>T
c.2856A>T (p.Glu952Asp)
n.7205A>T
n.418A>T
n.960A>T
c.2886A>T (p.Glu962Asp)
c.2799A>T (p.Glu933Asp)
c.1758A>T (p.Glu586Asp)
17g.46032149T>CCA500371987KANSL1c.2988A>G (p.Glu996=)
c.2985A>G (p.Glu995=)
c.2796A>G (p.Glu932=)
c.645A>G (p.Glu215=)
n.405A>G
c.2856A>G (p.Glu952=)
n.7205A>G
n.418A>G
n.960A>G
c.2886A>G (p.Glu962=)
c.2799A>G (p.Glu933=)
c.1758A>G (p.Glu586=)
17g.46032149T>GCA399986697KANSL1c.2988A>C (p.Glu996Asp)
c.2985A>C (p.Glu995Asp)
c.2796A>C (p.Glu932Asp)
c.645A>C (p.Glu215Asp)
n.405A>C
c.2856A>C (p.Glu952Asp)
n.7205A>C
n.418A>C
n.960A>C
c.2886A>C (p.Glu962Asp)
c.2799A>C (p.Glu933Asp)
c.1758A>C (p.Glu586Asp)
17g.46032150T>ACA399986701KANSL1c.2987A>T (p.Glu996Val)
c.2984A>T (p.Glu995Val)
c.2795A>T (p.Glu932Val)
c.644A>T (p.Glu215Val)
n.404A>T
c.2855A>T (p.Glu952Val)
n.7204A>T
n.417A>T
n.959A>T
c.2885A>T (p.Glu962Val)
c.2798A>T (p.Glu933Val)
c.1757A>T (p.Glu586Val)
17g.46032150T>CCA399986702KANSL1c.2987A>G (p.Glu996Gly)
c.2984A>G (p.Glu995Gly)
c.2795A>G (p.Glu932Gly)
c.644A>G (p.Glu215Gly)
n.404A>G
c.2855A>G (p.Glu952Gly)
n.7204A>G
n.417A>G
n.959A>G
c.2885A>G (p.Glu962Gly)
c.2798A>G (p.Glu933Gly)
c.1757A>G (p.Glu586Gly)
17g.46032150T>GCA399986706KANSL1c.2987A>C (p.Glu996Ala)
c.2984A>C (p.Glu995Ala)
c.2795A>C (p.Glu932Ala)
c.644A>C (p.Glu215Ala)
n.404A>C
c.2855A>C (p.Glu952Ala)
n.7204A>C
n.417A>C
n.959A>C
c.2885A>C (p.Glu962Ala)
c.2798A>C (p.Glu933Ala)
c.1757A>C (p.Glu586Ala)
17g.46032151C>ACA399986709KANSL1c.2986G>T (p.Glu996Ter)
c.2983G>T (p.Glu995Ter)
c.2794G>T (p.Glu932Ter)
c.643G>T (p.Glu215Ter)
n.403G>T
c.2854G>T (p.Glu952Ter)
n.7203G>T
n.416G>T
n.958G>T
c.2884G>T (p.Glu962Ter)
c.2797G>T (p.Glu933Ter)
c.1756G>T (p.Glu586Ter)
17g.46032151C>GCA399986711KANSL1c.2986G>C (p.Glu996Gln)
c.2983G>C (p.Glu995Gln)
c.2794G>C (p.Glu932Gln)
c.643G>C (p.Glu215Gln)
n.403G>C
c.2854G>C (p.Glu952Gln)
n.7203G>C
n.416G>C
n.958G>C
c.2884G>C (p.Glu962Gln)
c.2797G>C (p.Glu933Gln)
c.1756G>C (p.Glu586Gln)
17g.46032151C>TCA399986713KANSL1c.2986G>A (p.Glu996Lys)
c.2983G>A (p.Glu995Lys)
c.2794G>A (p.Glu932Lys)
c.643G>A (p.Glu215Lys)
n.403G>A
c.2854G>A (p.Glu952Lys)
n.7203G>A
n.416G>A
n.958G>A
c.2884G>A (p.Glu962Lys)
c.2797G>A (p.Glu933Lys)
c.1756G>A (p.Glu586Lys)
17g.46032152C>ACA500371989KANSL1c.2985G>T (p.Pro995=)
c.2982G>T (p.Pro994=)
c.2793G>T (p.Pro931=)
c.642G>T (p.Pro214=)
n.402G>T
c.2853G>T (p.Pro951=)
n.7202G>T
n.415G>T
n.957G>T
c.2883G>T (p.Pro961=)
c.2796G>T (p.Pro932=)
c.1755G>T (p.Pro585=)
 gnomAD v4
17g.46032152C=CA2262111024KANSL1c.2985G= (p.Pro995=)
c.2982G= (p.Pro994=)
c.2793G= (p.Pro931=)
c.642G= (p.Pro214=)
n.402G=
c.2853G= (p.Pro951=)
n.7202G=
n.415G=
n.957G=
c.2883G= (p.Pro961=)
c.2796G= (p.Pro932=)
c.1755G= (p.Pro585=)
17g.46032152C>GCA500371990KANSL1c.2985G>C (p.Pro995=)
c.2982G>C (p.Pro994=)
c.2793G>C (p.Pro931=)
c.642G>C (p.Pro214=)
n.402G>C
c.2853G>C (p.Pro951=)
n.7202G>C
n.415G>C
n.957G>C
c.2883G>C (p.Pro961=)
c.2796G>C (p.Pro932=)
c.1755G>C (p.Pro585=)
17g.46032152C>TCA8618408KANSL1c.2985G>A (p.Pro995=)
c.2982G>A (p.Pro994=)
c.2793G>A (p.Pro931=)
c.642G>A (p.Pro214=)
n.402G>A
c.2853G>A (p.Pro951=)
n.7202G>A
n.415G>A
n.957G>A
c.2883G>A (p.Pro961=)
c.2796G>A (p.Pro932=)
c.1755G>A (p.Pro585=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032153G>ACA8618409KANSL1c.2984C>T (p.Pro995Leu)
c.2981C>T (p.Pro994Leu)
c.2792C>T (p.Pro931Leu)
c.641C>T (p.Pro214Leu)
n.401C>T
c.2852C>T (p.Pro951Leu)
n.7201C>T
n.414C>T
n.956C>T
c.2882C>T (p.Pro961Leu)
c.2795C>T (p.Pro932Leu)
c.1754C>T (p.Pro585Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032153G>CCA399986720KANSL1c.2984C>G (p.Pro995Arg)
c.2981C>G (p.Pro994Arg)
c.2792C>G (p.Pro931Arg)
c.641C>G (p.Pro214Arg)
n.401C>G
c.2852C>G (p.Pro951Arg)
n.7201C>G
n.414C>G
n.956C>G
c.2882C>G (p.Pro961Arg)
c.2795C>G (p.Pro932Arg)
c.1754C>G (p.Pro585Arg)
17g.46032153G=CA2262111025KANSL1c.2984C= (p.Pro995=)
c.2981C= (p.Pro994=)
c.2792C= (p.Pro931=)
c.641C= (p.Pro214=)
n.401C=
c.2852C= (p.Pro951=)
n.7201C=
n.414C=
n.956C=
c.2882C= (p.Pro961=)
c.2795C= (p.Pro932=)
c.1754C= (p.Pro585=)
17g.46032153G>TCA399986723KANSL1c.2984C>A (p.Pro995Gln)
c.2981C>A (p.Pro994Gln)
c.2792C>A (p.Pro931Gln)
c.641C>A (p.Pro214Gln)
n.401C>A
c.2852C>A (p.Pro951Gln)
n.7201C>A
n.414C>A
n.956C>A
c.2882C>A (p.Pro961Gln)
c.2795C>A (p.Pro932Gln)
c.1754C>A (p.Pro585Gln)
17g.46032154G>ACA399986726KANSL1c.2983C>T (p.Pro995Ser)
c.2980C>T (p.Pro994Ser)
c.2791C>T (p.Pro931Ser)
c.640C>T (p.Pro214Ser)
n.400C>T
c.2851C>T (p.Pro951Ser)
n.7200C>T
n.413C>T
n.955C>T
c.2881C>T (p.Pro961Ser)
c.2794C>T (p.Pro932Ser)
c.1753C>T (p.Pro585Ser)
17g.46032154G>CCA399986727KANSL1c.2983C>G (p.Pro995Ala)
c.2980C>G (p.Pro994Ala)
c.2791C>G (p.Pro931Ala)
c.640C>G (p.Pro214Ala)
n.400C>G
c.2851C>G (p.Pro951Ala)
n.7200C>G
n.413C>G
n.955C>G
c.2881C>G (p.Pro961Ala)
c.2794C>G (p.Pro932Ala)
c.1753C>G (p.Pro585Ala)
17g.46032154G>TCA399986729KANSL1c.2983C>A (p.Pro995Thr)
c.2980C>A (p.Pro994Thr)
c.2791C>A (p.Pro931Thr)
c.640C>A (p.Pro214Thr)
n.400C>A
c.2851C>A (p.Pro951Thr)
n.7200C>A
n.413C>A
n.955C>A
c.2881C>A (p.Pro961Thr)
c.2794C>A (p.Pro932Thr)
c.1753C>A (p.Pro585Thr)
17g.46032155G>ACA500371991KANSL1c.2982C>T (p.Ser994=)
c.2979C>T (p.Ser993=)
c.2790C>T (p.Ser930=)
c.639C>T (p.Ser213=)
n.399C>T
c.2850C>T (p.Ser950=)
n.7199C>T
n.412C>T
n.954C>T
c.2880C>T (p.Ser960=)
c.2793C>T (p.Ser931=)
c.1752C>T (p.Ser584=)
17g.46032155G>CCA399986733KANSL1c.2982C>G (p.Ser994Arg)
c.2979C>G (p.Ser993Arg)
c.2790C>G (p.Ser930Arg)
c.639C>G (p.Ser213Arg)
n.399C>G
c.2850C>G (p.Ser950Arg)
n.7199C>G
n.412C>G
n.954C>G
c.2880C>G (p.Ser960Arg)
c.2793C>G (p.Ser931Arg)
c.1752C>G (p.Ser584Arg)
17g.46032155G>TCA399986736KANSL1c.2982C>A (p.Ser994Arg)
c.2979C>A (p.Ser993Arg)
c.2790C>A (p.Ser930Arg)
c.639C>A (p.Ser213Arg)
n.399C>A
c.2850C>A (p.Ser950Arg)
n.7199C>A
n.412C>A
n.954C>A
c.2880C>A (p.Ser960Arg)
c.2793C>A (p.Ser931Arg)
c.1752C>A (p.Ser584Arg)
17g.46032156C>ACA399986740KANSL1c.2981G>T (p.Ser994Ile)
c.2978G>T (p.Ser993Ile)
c.2789G>T (p.Ser930Ile)
c.638G>T (p.Ser213Ile)
n.398G>T
c.2849G>T (p.Ser950Ile)
n.7198G>T
n.411G>T
n.953G>T
c.2879G>T (p.Ser960Ile)
c.2792G>T (p.Ser931Ile)
c.1751G>T (p.Ser584Ile)
 ClinVar dbSNP gnomAD v4
17g.46032156C>GCA399986743KANSL1c.2981G>C (p.Ser994Thr)
c.2978G>C (p.Ser993Thr)
c.2789G>C (p.Ser930Thr)
c.638G>C (p.Ser213Thr)
n.398G>C
c.2849G>C (p.Ser950Thr)
n.7198G>C
n.411G>C
n.953G>C
c.2879G>C (p.Ser960Thr)
c.2792G>C (p.Ser931Thr)
c.1751G>C (p.Ser584Thr)
17g.46032156C>TCA399986746KANSL1c.2981G>A (p.Ser994Asn)
c.2978G>A (p.Ser993Asn)
c.2789G>A (p.Ser930Asn)
c.638G>A (p.Ser213Asn)
n.398G>A
c.2849G>A (p.Ser950Asn)
n.7198G>A
n.411G>A
n.953G>A
c.2879G>A (p.Ser960Asn)
c.2792G>A (p.Ser931Asn)
c.1751G>A (p.Ser584Asn)
17g.46032157T>ACA399986749KANSL1c.2980A>T (p.Ser994Cys)
c.2977A>T (p.Ser993Cys)
c.2788A>T (p.Ser930Cys)
c.637A>T (p.Ser213Cys)
n.397A>T
c.2848A>T (p.Ser950Cys)
n.7197A>T
n.410A>T
n.952A>T
c.2878A>T (p.Ser960Cys)
c.2791A>T (p.Ser931Cys)
c.1750A>T (p.Ser584Cys)
17g.46032157T>CCA399986751KANSL1c.2980A>G (p.Ser994Gly)
c.2977A>G (p.Ser993Gly)
c.2788A>G (p.Ser930Gly)
c.637A>G (p.Ser213Gly)
n.397A>G
c.2848A>G (p.Ser950Gly)
n.7197A>G
n.410A>G
n.952A>G
c.2878A>G (p.Ser960Gly)
c.2791A>G (p.Ser931Gly)
c.1750A>G (p.Ser584Gly)
 ClinVar gnomAD v4
17g.46032157T>GCA399986754KANSL1c.2980A>C (p.Ser994Arg)
c.2977A>C (p.Ser993Arg)
c.2788A>C (p.Ser930Arg)
c.637A>C (p.Ser213Arg)
n.397A>C
c.2848A>C (p.Ser950Arg)
n.7197A>C
n.410A>C
n.952A>C
c.2878A>C (p.Ser960Arg)
c.2791A>C (p.Ser931Arg)
c.1750A>C (p.Ser584Arg)
17g.46032158A>CCA399986758KANSL1c.2979T>G (p.Ile993Met)
c.2976T>G (p.Ile992Met)
c.2787T>G (p.Ile929Met)
c.636T>G (p.Ile212Met)
n.396T>G
c.2847T>G (p.Ile949Met)
n.7196T>G
n.409T>G
n.951T>G
c.2877T>G (p.Ile959Met)
c.2790T>G (p.Ile930Met)
c.1749T>G (p.Ile583Met)
17g.46032158A>GCA500371992KANSL1c.2979T>C (p.Ile993=)
c.2976T>C (p.Ile992=)
c.2787T>C (p.Ile929=)
c.636T>C (p.Ile212=)
n.396T>C
c.2847T>C (p.Ile949=)
n.7196T>C
n.409T>C
n.951T>C
c.2877T>C (p.Ile959=)
c.2790T>C (p.Ile930=)
c.1749T>C (p.Ile583=)
 gnomAD v4
17g.46032158A>TCA500371993KANSL1c.2979T>A (p.Ile993=)
c.2976T>A (p.Ile992=)
c.2787T>A (p.Ile929=)
c.636T>A (p.Ile212=)
n.396T>A
c.2847T>A (p.Ile949=)
n.7196T>A
n.409T>A
n.951T>A
c.2877T>A (p.Ile959=)
c.2790T>A (p.Ile930=)
c.1749T>A (p.Ile583=)
17g.46032159A>CCA399986762KANSL1c.2978T>G (p.Ile993Ser)
c.2975T>G (p.Ile992Ser)
c.2786T>G (p.Ile929Ser)
c.635T>G (p.Ile212Ser)
n.395T>G
c.2846T>G (p.Ile949Ser)
n.7195T>G
n.408T>G
n.950T>G
c.2876T>G (p.Ile959Ser)
c.2789T>G (p.Ile930Ser)
c.1748T>G (p.Ile583Ser)
17g.46032159A>GCA399986764KANSL1c.2978T>C (p.Ile993Thr)
c.2975T>C (p.Ile992Thr)
c.2786T>C (p.Ile929Thr)
c.635T>C (p.Ile212Thr)
n.395T>C
c.2846T>C (p.Ile949Thr)
n.7195T>C
n.408T>C
n.950T>C
c.2876T>C (p.Ile959Thr)
c.2789T>C (p.Ile930Thr)
c.1748T>C (p.Ile583Thr)
17g.46032159A>TCA399986767KANSL1c.2978T>A (p.Ile993Asn)
c.2975T>A (p.Ile992Asn)
c.2786T>A (p.Ile929Asn)
c.635T>A (p.Ile212Asn)
n.395T>A
c.2846T>A (p.Ile949Asn)
n.7195T>A
n.408T>A
n.950T>A
c.2876T>A (p.Ile959Asn)
c.2789T>A (p.Ile930Asn)
c.1748T>A (p.Ile583Asn)
17g.46032160T>ACA399986770KANSL1c.2977A>T (p.Ile993Phe)
c.2974A>T (p.Ile992Phe)
c.2785A>T (p.Ile929Phe)
c.634A>T (p.Ile212Phe)
n.394A>T
c.2845A>T (p.Ile949Phe)
n.7194A>T
n.407A>T
n.949A>T
c.2875A>T (p.Ile959Phe)
c.2788A>T (p.Ile930Phe)
c.1747A>T (p.Ile583Phe)
17g.46032160T>CCA399986772KANSL1c.2977A>G (p.Ile993Val)
c.2974A>G (p.Ile992Val)
c.2785A>G (p.Ile929Val)
c.634A>G (p.Ile212Val)
n.394A>G
c.2845A>G (p.Ile949Val)
n.7194A>G
n.407A>G
n.949A>G
c.2875A>G (p.Ile959Val)
c.2788A>G (p.Ile930Val)
c.1747A>G (p.Ile583Val)
17g.46032160T>GCA399986774KANSL1c.2977A>C (p.Ile993Leu)
c.2974A>C (p.Ile992Leu)
c.2785A>C (p.Ile929Leu)
c.634A>C (p.Ile212Leu)
n.394A>C
c.2845A>C (p.Ile949Leu)
n.7194A>C
n.407A>C
n.949A>C
c.2875A>C (p.Ile959Leu)
c.2788A>C (p.Ile930Leu)
c.1747A>C (p.Ile583Leu)
17g.46032161G>ACA500371994KANSL1c.2976C>T (p.Pro992=)
c.2973C>T (p.Pro991=)
c.2784C>T (p.Pro928=)
c.633C>T (p.Pro211=)
n.393C>T
c.2844C>T (p.Pro948=)
n.7193C>T
n.406C>T
n.948C>T
c.2874C>T (p.Pro958=)
c.2787C>T (p.Pro929=)
c.1746C>T (p.Pro582=)
17g.46032161G>CCA500371995KANSL1c.2976C>G (p.Pro992=)
c.2973C>G (p.Pro991=)
c.2784C>G (p.Pro928=)
c.633C>G (p.Pro211=)
n.393C>G
c.2844C>G (p.Pro948=)
n.7193C>G
n.406C>G
n.948C>G
c.2874C>G (p.Pro958=)
c.2787C>G (p.Pro929=)
c.1746C>G (p.Pro582=)
 gnomAD v4
17g.46032161G>TCA500371996KANSL1c.2976C>A (p.Pro992=)
c.2973C>A (p.Pro991=)
c.2784C>A (p.Pro928=)
c.633C>A (p.Pro211=)
n.393C>A
c.2844C>A (p.Pro948=)
n.7193C>A
n.406C>A
n.948C>A
c.2874C>A (p.Pro958=)
c.2787C>A (p.Pro929=)
c.1746C>A (p.Pro582=)
17g.46032162G>ACA399986777KANSL1c.2975C>T (p.Pro992Leu)
c.2972C>T (p.Pro991Leu)
c.2783C>T (p.Pro928Leu)
c.632C>T (p.Pro211Leu)
n.392C>T
c.2843C>T (p.Pro948Leu)
n.7192C>T
n.405C>T
n.947C>T
c.2873C>T (p.Pro958Leu)
c.2786C>T (p.Pro929Leu)
c.1745C>T (p.Pro582Leu)
17g.46032162G>CCA399986781KANSL1c.2975C>G (p.Pro992Arg)
c.2972C>G (p.Pro991Arg)
c.2783C>G (p.Pro928Arg)
c.632C>G (p.Pro211Arg)
n.392C>G
c.2843C>G (p.Pro948Arg)
n.7192C>G
n.405C>G
n.947C>G
c.2873C>G (p.Pro958Arg)
c.2786C>G (p.Pro929Arg)
c.1745C>G (p.Pro582Arg)
17g.46032162G>TCA399986778KANSL1c.2975C>A (p.Pro992His)
c.2972C>A (p.Pro991His)
c.2783C>A (p.Pro928His)
c.632C>A (p.Pro211His)
n.392C>A
c.2843C>A (p.Pro948His)
n.7192C>A
n.405C>A
n.947C>A
c.2873C>A (p.Pro958His)
c.2786C>A (p.Pro929His)
c.1745C>A (p.Pro582His)
17g.46032163G>ACA399986784KANSL1c.2974C>T (p.Pro992Ser)
c.2971C>T (p.Pro991Ser)
c.2782C>T (p.Pro928Ser)
c.631C>T (p.Pro211Ser)
n.391C>T
c.2842C>T (p.Pro948Ser)
n.7191C>T
n.404C>T
n.946C>T
c.2872C>T (p.Pro958Ser)
c.2785C>T (p.Pro929Ser)
c.1744C>T (p.Pro582Ser)
 dbSNP
17g.46032163G>CCA399986786KANSL1c.2974C>G (p.Pro992Ala)
c.2971C>G (p.Pro991Ala)
c.2782C>G (p.Pro928Ala)
c.631C>G (p.Pro211Ala)
n.391C>G
c.2842C>G (p.Pro948Ala)
n.7191C>G
n.404C>G
n.946C>G
c.2872C>G (p.Pro958Ala)
c.2785C>G (p.Pro929Ala)
c.1744C>G (p.Pro582Ala)
17g.46032163G=CA2262111026KANSL1c.2974C= (p.Pro992=)
c.2971C= (p.Pro991=)
c.2782C= (p.Pro928=)
c.631C= (p.Pro211=)
n.391C=
c.2842C= (p.Pro948=)
n.7191C=
n.404C=
n.946C=
c.2872C= (p.Pro958=)
c.2785C= (p.Pro929=)
c.1744C= (p.Pro582=)
17g.46032163G>TCA399986789KANSL1c.2974C>A (p.Pro992Thr)
c.2971C>A (p.Pro991Thr)
c.2782C>A (p.Pro928Thr)
c.631C>A (p.Pro211Thr)
n.391C>A
c.2842C>A (p.Pro948Thr)
n.7191C>A
n.404C>A
n.946C>A
c.2872C>A (p.Pro958Thr)
c.2785C>A (p.Pro929Thr)
c.1744C>A (p.Pro582Thr)
17g.46032164G>ACA500371997KANSL1c.2973C>T (p.Ser991=)
c.2970C>T (p.Ser990=)
c.2781C>T (p.Ser927=)
c.630C>T (p.Ser210=)
n.390C>T
c.2841C>T (p.Ser947=)
n.7190C>T
n.403C>T
n.945C>T
c.2871C>T (p.Ser957=)
c.2784C>T (p.Ser928=)
c.1743C>T (p.Ser581=)
17g.46032164G>CCA399986793KANSL1c.2973C>G (p.Ser991Arg)
c.2970C>G (p.Ser990Arg)
c.2781C>G (p.Ser927Arg)
c.630C>G (p.Ser210Arg)
n.390C>G
c.2841C>G (p.Ser947Arg)
n.7190C>G
n.403C>G
n.945C>G
c.2871C>G (p.Ser957Arg)
c.2784C>G (p.Ser928Arg)
c.1743C>G (p.Ser581Arg)
17g.46032164G>TCA399986796KANSL1c.2973C>A (p.Ser991Arg)
c.2970C>A (p.Ser990Arg)
c.2781C>A (p.Ser927Arg)
c.630C>A (p.Ser210Arg)
n.390C>A
c.2841C>A (p.Ser947Arg)
n.7190C>A
n.403C>A
n.945C>A
c.2871C>A (p.Ser957Arg)
c.2784C>A (p.Ser928Arg)
c.1743C>A (p.Ser581Arg)
17g.46032165C>ACA399986800KANSL1c.2972G>T (p.Ser991Ile)
c.2969G>T (p.Ser990Ile)
c.2780G>T (p.Ser927Ile)
c.629G>T (p.Ser210Ile)
n.389G>T
c.2840G>T (p.Ser947Ile)
n.7189G>T
n.358G>T
n.402G>T
n.944G>T
c.2870G>T (p.Ser957Ile)
c.2783G>T (p.Ser928Ile)
c.1742G>T (p.Ser581Ile)
17g.46032165C>GCA399986801KANSL1c.2972G>C (p.Ser991Thr)
c.2969G>C (p.Ser990Thr)
c.2780G>C (p.Ser927Thr)
c.629G>C (p.Ser210Thr)
n.389G>C
c.2840G>C (p.Ser947Thr)
n.7189G>C
n.358G>C
n.402G>C
n.944G>C
c.2870G>C (p.Ser957Thr)
c.2783G>C (p.Ser928Thr)
c.1742G>C (p.Ser581Thr)
17g.46032165C>TCA399986805KANSL1c.2972G>A (p.Ser991Asn)
c.2969G>A (p.Ser990Asn)
c.2780G>A (p.Ser927Asn)
c.629G>A (p.Ser210Asn)
n.389G>A
c.2840G>A (p.Ser947Asn)
n.7189G>A
n.358G>A
n.402G>A
n.944G>A
c.2870G>A (p.Ser957Asn)
c.2783G>A (p.Ser928Asn)
c.1742G>A (p.Ser581Asn)
17g.46032166T>ACA399986808KANSL1c.2971A>T (p.Ser991Cys)
c.2968A>T (p.Ser990Cys)
c.2779A>T (p.Ser927Cys)
c.628A>T (p.Ser210Cys)
n.388A>T
c.2839A>T (p.Ser947Cys)
n.7188A>T
n.357A>T
n.401A>T
n.943A>T
c.2869A>T (p.Ser957Cys)
c.2782A>T (p.Ser928Cys)
c.1741A>T (p.Ser581Cys)
17g.46032166T>CCA399986810KANSL1c.2971A>G (p.Ser991Gly)
c.2968A>G (p.Ser990Gly)
c.2779A>G (p.Ser927Gly)
c.628A>G (p.Ser210Gly)
n.388A>G
c.2839A>G (p.Ser947Gly)
n.7188A>G
n.357A>G
n.401A>G
n.943A>G
c.2869A>G (p.Ser957Gly)
c.2782A>G (p.Ser928Gly)
c.1741A>G (p.Ser581Gly)
17g.46032166T>GCA399986813KANSL1c.2971A>C (p.Ser991Arg)
c.2968A>C (p.Ser990Arg)
c.2779A>C (p.Ser927Arg)
c.628A>C (p.Ser210Arg)
n.388A>C
c.2839A>C (p.Ser947Arg)
n.7188A>C
n.357A>C
n.401A>C
n.943A>C
c.2869A>C (p.Ser957Arg)
c.2782A>C (p.Ser928Arg)
c.1741A>C (p.Ser581Arg)
17g.46032167C>ACA399986816KANSL1c.2970G>T (p.Arg990Ser)
c.2967G>T (p.Arg989Ser)
c.2778G>T (p.Arg926Ser)
c.627G>T (p.Arg209Ser)
n.387G>T
c.2838G>T (p.Arg946Ser)
n.7187G>T
n.356G>T
n.400G>T
n.942G>T
c.2868G>T (p.Arg956Ser)
c.2781G>T (p.Arg927Ser)
c.1740G>T (p.Arg580Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.46032167C=CA2262111027KANSL1c.2970G= (p.Arg990=)
c.2967G= (p.Arg989=)
c.2778G= (p.Arg926=)
c.627G= (p.Arg209=)
n.387G=
c.2838G= (p.Arg946=)
n.7187G=
n.356G=
n.400G=
n.942G=
c.2868G= (p.Arg956=)
c.2781G= (p.Arg927=)
c.1740G= (p.Arg580=)
17g.46032167C>GCA399986817KANSL1c.2970G>C (p.Arg990Ser)
c.2967G>C (p.Arg989Ser)
c.2778G>C (p.Arg926Ser)
c.627G>C (p.Arg209Ser)
n.387G>C
c.2838G>C (p.Arg946Ser)
n.7187G>C
n.356G>C
n.400G>C
n.942G>C
c.2868G>C (p.Arg956Ser)
c.2781G>C (p.Arg927Ser)
c.1740G>C (p.Arg580Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.46032167C>TCA500371998KANSL1c.2970G>A (p.Arg990=)
c.2967G>A (p.Arg989=)
c.2778G>A (p.Arg926=)
c.627G>A (p.Arg209=)
n.387G>A
c.2838G>A (p.Arg946=)
n.7187G>A
n.356G>A
n.400G>A
n.942G>A
c.2868G>A (p.Arg956=)
c.2781G>A (p.Arg927=)
c.1740G>A (p.Arg580=)
17g.46032168C>ACA399986827KANSL1c.2969G>T (p.Arg990Met)
c.2966G>T (p.Arg989Met)
c.2777G>T (p.Arg926Met)
c.626G>T (p.Arg209Met)
n.386G>T
c.2838-1G>T (n.2838-1G>T)
n.7186G>T
n.355G>T
n.399G>T
n.941G>T
c.2867G>T (p.Arg956Met)
c.2780G>T (p.Arg927Met)
c.1739G>T (p.Arg580Met)
17g.46032168C>GCA399986820KANSL1c.2969G>C (p.Arg990Thr)
c.2966G>C (p.Arg989Thr)
c.2777G>C (p.Arg926Thr)
c.626G>C (p.Arg209Thr)
n.386G>C
c.2838-1G>C (n.2838-1G>C)
n.7186G>C
n.355G>C
n.399G>C
n.941G>C
c.2867G>C (p.Arg956Thr)
c.2780G>C (p.Arg927Thr)
c.1739G>C (p.Arg580Thr)
17g.46032168C>TCA399986824KANSL1c.2969G>A (p.Arg990Lys)
c.2966G>A (p.Arg989Lys)
c.2777G>A (p.Arg926Lys)
c.626G>A (p.Arg209Lys)
n.386G>A
c.2838-1G>A (n.2838-1G>A)
n.7186G>A
n.355G>A
n.399G>A
n.941G>A
c.2867G>A (p.Arg956Lys)
c.2780G>A (p.Arg927Lys)
c.1739G>A (p.Arg580Lys)
17g.46032169T>ACA399986831KANSL1c.2968A>T (p.Arg990Trp)
c.2965A>T (p.Arg989Trp)
c.2776A>T (p.Arg926Trp)
c.625A>T (p.Arg209Trp)
n.385A>T
c.2838-2A>T (n.2838-2A>T)
n.7185A>T
n.354A>T
n.398A>T
n.940A>T
c.2866A>T (p.Arg956Trp)
c.2779A>T (p.Arg927Trp)
c.1738A>T (p.Arg580Trp)
17g.46032169T>CCA399986833KANSL1c.2968A>G (p.Arg990Gly)
c.2965A>G (p.Arg989Gly)
c.2776A>G (p.Arg926Gly)
c.625A>G (p.Arg209Gly)
n.385A>G
c.2838-2A>G (n.2838-2A>G)
n.7185A>G
n.354A>G
n.398A>G
n.940A>G
c.2866A>G (p.Arg956Gly)
c.2779A>G (p.Arg927Gly)
c.1738A>G (p.Arg580Gly)
17g.46032169T>GCA500371999KANSL1c.2968A>C (p.Arg990=)
c.2965A>C (p.Arg989=)
c.2776A>C (p.Arg926=)
c.625A>C (p.Arg209=)
n.385A>C
c.2838-2A>C (n.2838-2A>C)
n.7185A>C
n.354A>C
n.398A>C
n.940A>C
c.2866A>C (p.Arg956=)
c.2779A>C (p.Arg927=)
c.1738A>C (p.Arg580=)
17g.46032170A>CCA500372001KANSL1c.2967T>G (p.Pro989=)
c.2964T>G (p.Pro988=)
c.2775T>G (p.Pro925=)
c.624T>G (p.Pro208=)
n.384T>G
c.2838-3T>G (n.2838-3T>G)
n.7184T>G
n.353T>G
n.397T>G
n.939T>G
c.2865T>G (p.Pro955=)
c.2778T>G (p.Pro926=)
c.1737T>G (p.Pro579=)
17g.46032170A>GCA500372000KANSL1c.2967T>C (p.Pro989=)
c.2964T>C (p.Pro988=)
c.2775T>C (p.Pro925=)
c.624T>C (p.Pro208=)
n.384T>C
c.2838-3T>C (n.2838-3T>C)
n.7184T>C
n.353T>C
n.397T>C
n.939T>C
c.2865T>C (p.Pro955=)
c.2778T>C (p.Pro926=)
c.1737T>C (p.Pro579=)
17g.46032170A>TCA500372002KANSL1c.2967T>A (p.Pro989=)
c.2964T>A (p.Pro988=)
c.2775T>A (p.Pro925=)
c.624T>A (p.Pro208=)
n.384T>A
c.2838-3T>A (n.2838-3T>A)
n.7184T>A
n.353T>A
n.397T>A
n.939T>A
c.2865T>A (p.Pro955=)
c.2778T>A (p.Pro926=)
c.1737T>A (p.Pro579=)
17g.46032171G>ACA399986837KANSL1c.2966C>T (p.Pro989Leu)
c.2963C>T (p.Pro988Leu)
c.2774C>T (p.Pro925Leu)
c.623C>T (p.Pro208Leu)
n.383C>T
c.2838-4C>T (n.2838-4C>T)
n.7183C>T
n.352C>T
n.396C>T
n.938C>T
c.2864C>T (p.Pro955Leu)
c.2777C>T (p.Pro926Leu)
c.1736C>T (p.Pro579Leu)
 COSMIC
17g.46032171G>CCA399986840KANSL1c.2966C>G (p.Pro989Arg)
c.2963C>G (p.Pro988Arg)
c.2774C>G (p.Pro925Arg)
c.623C>G (p.Pro208Arg)
n.383C>G
c.2838-4C>G (n.2838-4C>G)
n.7183C>G
n.352C>G
n.396C>G
n.938C>G
c.2864C>G (p.Pro955Arg)
c.2777C>G (p.Pro926Arg)
c.1736C>G (p.Pro579Arg)
 ClinVar gnomAD v4
17g.46032171G>TCA399986842KANSL1c.2966C>A (p.Pro989His)
c.2963C>A (p.Pro988His)
c.2774C>A (p.Pro925His)
c.623C>A (p.Pro208His)
n.383C>A
c.2838-4C>A (n.2838-4C>A)
n.7183C>A
n.352C>A
n.396C>A
n.938C>A
c.2864C>A (p.Pro955His)
c.2777C>A (p.Pro926His)
c.1736C>A (p.Pro579His)
17g.46032172G>ACA399986846KANSL1c.2965C>T (p.Pro989Ser)
c.2962C>T (p.Pro988Ser)
c.2773C>T (p.Pro925Ser)
c.622C>T (p.Pro208Ser)
n.382C>T
c.2838-5C>T (n.2838-5C>T)
n.7182C>T
n.351C>T
n.395C>T
n.937C>T
c.2863C>T (p.Pro955Ser)
c.2776C>T (p.Pro926Ser)
c.1735C>T (p.Pro579Ser)
17g.46032172G>CCA399986848KANSL1c.2965C>G (p.Pro989Ala)
c.2962C>G (p.Pro988Ala)
c.2773C>G (p.Pro925Ala)
c.622C>G (p.Pro208Ala)
n.382C>G
c.2838-5C>G (n.2838-5C>G)
n.7182C>G
n.351C>G
n.395C>G
n.937C>G
c.2863C>G (p.Pro955Ala)
c.2776C>G (p.Pro926Ala)
c.1735C>G (p.Pro579Ala)
17g.46032172G=CA2262111028KANSL1c.2965C= (p.Pro989=)
c.2962C= (p.Pro988=)
c.2773C= (p.Pro925=)
c.622C= (p.Pro208=)
n.382C=
c.2838-5C= (n.2838-5C=)
n.7182C=
n.351C=
n.395C=
n.937C=
c.2863C= (p.Pro955=)
c.2776C= (p.Pro926=)
c.1735C= (p.Pro579=)
17g.46032172G>TCA399986852KANSL1c.2965C>A (p.Pro989Thr)
c.2962C>A (p.Pro988Thr)
c.2773C>A (p.Pro925Thr)
c.622C>A (p.Pro208Thr)
n.382C>A
c.2838-5C>A (n.2838-5C>A)
n.7182C>A
n.351C>A
n.395C>A
n.937C>A
c.2863C>A (p.Pro955Thr)
c.2776C>A (p.Pro926Thr)
c.1735C>A (p.Pro579Thr)
 dbSNP
17g.46032173G>ACA500372004KANSL1c.2964C>T (p.Ser988=)
c.2961C>T (p.Ser987=)
c.2772C>T (p.Ser924=)
c.621C>T (p.Ser207=)
n.381C>T
c.2838-6C>T (n.2838-6C>T)
n.7181C>T
n.350C>T
n.394C>T
n.936C>T
c.2862C>T (p.Ser954=)
c.2775C>T (p.Ser925=)
c.1734C>T (p.Ser578=)
17g.46032173G>CCA500372003KANSL1c.2964C>G (p.Ser988=)
c.2961C>G (p.Ser987=)
c.2772C>G (p.Ser924=)
c.621C>G (p.Ser207=)
n.381C>G
c.2838-6C>G (n.2838-6C>G)
n.7181C>G
n.350C>G
n.394C>G
n.936C>G
c.2862C>G (p.Ser954=)
c.2775C>G (p.Ser925=)
c.1734C>G (p.Ser578=)
17g.46032173G>TCA500372005KANSL1c.2964C>A (p.Ser988=)
c.2961C>A (p.Ser987=)
c.2772C>A (p.Ser924=)
c.621C>A (p.Ser207=)
n.381C>A
c.2838-6C>A (n.2838-6C>A)
n.7181C>A
n.350C>A
n.394C>A
n.936C>A
c.2862C>A (p.Ser954=)
c.2775C>A (p.Ser925=)
c.1734C>A (p.Ser578=)
17g.46032174G>ACA399986855KANSL1c.2963C>T (p.Ser988Phe)
c.2960C>T (p.Ser987Phe)
c.2771C>T (p.Ser924Phe)
c.620C>T (p.Ser207Phe)
n.380C>T
c.2838-7C>T (n.2838-7C>T)
n.7180C>T
n.349C>T
n.393C>T
n.935C>T
c.2861C>T (p.Ser954Phe)
c.2774C>T (p.Ser925Phe)
c.1733C>T (p.Ser578Phe)
17g.46032174G>CCA399986857KANSL1c.2963C>G (p.Ser988Cys)
c.2960C>G (p.Ser987Cys)
c.2771C>G (p.Ser924Cys)
c.620C>G (p.Ser207Cys)
n.380C>G
c.2838-7C>G (n.2838-7C>G)
n.7180C>G
n.349C>G
n.393C>G
n.935C>G
c.2861C>G (p.Ser954Cys)
c.2774C>G (p.Ser925Cys)
c.1733C>G (p.Ser578Cys)
17g.46032174G>TCA399986860KANSL1c.2963C>A (p.Ser988Tyr)
c.2960C>A (p.Ser987Tyr)
c.2771C>A (p.Ser924Tyr)
c.620C>A (p.Ser207Tyr)
n.380C>A
c.2838-7C>A (n.2838-7C>A)
n.7180C>A
n.349C>A
n.393C>A
n.935C>A
c.2861C>A (p.Ser954Tyr)
c.2774C>A (p.Ser925Tyr)
c.1733C>A (p.Ser578Tyr)
 ClinVar gnomAD v4
17g.46032175A>CCA399986865KANSL1c.2962T>G (p.Ser988Ala)
c.2959T>G (p.Ser987Ala)
c.2770T>G (p.Ser924Ala)
c.619T>G (p.Ser207Ala)
n.379T>G
c.2838-8T>G (n.2838-8T>G)
n.7179T>G
n.348T>G
n.392T>G
n.934T>G
c.2860T>G (p.Ser954Ala)
c.2773T>G (p.Ser925Ala)
c.1732T>G (p.Ser578Ala)
17g.46032175A>GCA399986870KANSL1c.2962T>C (p.Ser988Pro)
c.2959T>C (p.Ser987Pro)
c.2770T>C (p.Ser924Pro)
c.619T>C (p.Ser207Pro)
n.379T>C
c.2838-8T>C (n.2838-8T>C)
n.7179T>C
n.348T>C
n.392T>C
n.934T>C
c.2860T>C (p.Ser954Pro)
c.2773T>C (p.Ser925Pro)
c.1732T>C (p.Ser578Pro)
17g.46032175A>TCA399986867KANSL1c.2962T>A (p.Ser988Thr)
c.2959T>A (p.Ser987Thr)
c.2770T>A (p.Ser924Thr)
c.619T>A (p.Ser207Thr)
n.379T>A
c.2838-8T>A (n.2838-8T>A)
n.7179T>A
n.348T>A
n.392T>A
n.934T>A
c.2860T>A (p.Ser954Thr)
c.2773T>A (p.Ser925Thr)
c.1732T>A (p.Ser578Thr)
17g.46032176C>ACA399986882KANSL1c.2961G>T (p.Gln987His)
c.2958G>T (p.Gln986His)
c.2769G>T (p.Gln923His)
c.618G>T (p.Gln206His)
n.378G>T
c.2838-9G>T (n.2838-9G>T)
n.7178G>T
n.347G>T
n.391G>T
n.933G>T
c.2859G>T (p.Gln953His)
c.2772G>T (p.Gln924His)
c.1731G>T (p.Gln577His)
17g.46032176C>GCA399986886KANSL1c.2961G>C (p.Gln987His)
c.2958G>C (p.Gln986His)
c.2769G>C (p.Gln923His)
c.618G>C (p.Gln206His)
n.378G>C
c.2838-9G>C (n.2838-9G>C)
n.7178G>C
n.347G>C
n.391G>C
n.933G>C
c.2859G>C (p.Gln953His)
c.2772G>C (p.Gln924His)
c.1731G>C (p.Gln577His)
17g.46032176C>TCA500372006KANSL1c.2961G>A (p.Gln987=)
c.2958G>A (p.Gln986=)
c.2769G>A (p.Gln923=)
c.618G>A (p.Gln206=)
n.378G>A
c.2838-9G>A (n.2838-9G>A)
n.7178G>A
n.347G>A
n.391G>A
n.933G>A
c.2859G>A (p.Gln953=)
c.2772G>A (p.Gln924=)
c.1731G>A (p.Gln577=)
17g.46032177T>ACA399986889KANSL1c.2960A>T (p.Gln987Leu)
c.2957A>T (p.Gln986Leu)
c.2768A>T (p.Gln923Leu)
c.617A>T (p.Gln206Leu)
n.377A>T
c.2838-10A>T (n.2838-10A>T)
n.7177A>T
n.346A>T
n.390A>T
n.932A>T
c.2858A>T (p.Gln953Leu)
c.2771A>T (p.Gln924Leu)
c.1730A>T (p.Gln577Leu)
17g.46032177T>CCA399986893KANSL1c.2960A>G (p.Gln987Arg)
c.2957A>G (p.Gln986Arg)
c.2768A>G (p.Gln923Arg)
c.617A>G (p.Gln206Arg)
n.377A>G
c.2838-10A>G (n.2838-10A>G)
n.7177A>G
n.346A>G
n.390A>G
n.932A>G
c.2858A>G (p.Gln953Arg)
c.2771A>G (p.Gln924Arg)
c.1730A>G (p.Gln577Arg)
 dbSNP gnomAD v4
17g.46032177T>GCA399986895KANSL1c.2960A>C (p.Gln987Pro)
c.2957A>C (p.Gln986Pro)
c.2768A>C (p.Gln923Pro)
c.617A>C (p.Gln206Pro)
n.377A>C
c.2838-10A>C (n.2838-10A>C)
n.7177A>C
n.346A>C
n.390A>C
n.932A>C
c.2858A>C (p.Gln953Pro)
c.2771A>C (p.Gln924Pro)
c.1730A>C (p.Gln577Pro)
17g.46032177T=CA2262111029KANSL1c.2960A= (p.Gln987=)
c.2957A= (p.Gln986=)
c.2768A= (p.Gln923=)
c.617A= (p.Gln206=)
n.377A=
c.2838-10A= (n.2838-10A=)
n.7177A=
n.346A=
n.390A=
n.932A=
c.2858A= (p.Gln953=)
c.2771A= (p.Gln924=)
c.1730A= (p.Gln577=)
17g.46032178G>ACA399986899KANSL1c.2959C>T (p.Gln987Ter)
c.2956C>T (p.Gln986Ter)
c.2767C>T (p.Gln923Ter)
c.616C>T (p.Gln206Ter)
n.376C>T
c.2838-11C>T (n.2838-11C>T)
n.7176C>T
n.345C>T
n.389C>T
n.931C>T
c.2857C>T (p.Gln953Ter)
c.2770C>T (p.Gln924Ter)
c.1729C>T (p.Gln577Ter)
17g.46032178G>CCA399986902KANSL1c.2959C>G (p.Gln987Glu)
c.2956C>G (p.Gln986Glu)
c.2767C>G (p.Gln923Glu)
c.616C>G (p.Gln206Glu)
n.376C>G
c.2838-11C>G (n.2838-11C>G)
n.7176C>G
n.345C>G
n.389C>G
n.931C>G
c.2857C>G (p.Gln953Glu)
c.2770C>G (p.Gln924Glu)
c.1729C>G (p.Gln577Glu)
17g.46032178G>TCA399986903KANSL1c.2959C>A (p.Gln987Lys)
c.2956C>A (p.Gln986Lys)
c.2767C>A (p.Gln923Lys)
c.616C>A (p.Gln206Lys)
n.376C>A
c.2838-11C>A (n.2838-11C>A)
n.7176C>A
n.345C>A
n.389C>A
n.931C>A
c.2857C>A (p.Gln953Lys)
c.2770C>A (p.Gln924Lys)
c.1729C>A (p.Gln577Lys)
17g.46032179A=CA2262111030KANSL1c.2958T= (p.Gly986=)
c.2955T= (p.Gly985=)
c.2766T= (p.Gly922=)
c.615T= (p.Gly205=)
n.375T=
c.2838-12T= (n.2838-12T=)
n.7175T=
n.344T=
n.388T=
n.930T=
c.2856T= (p.Gly952=)
c.2769T= (p.Gly923=)
c.1728T= (p.Gly576=)
17g.46032179A>CCA8618410KANSL1c.2958T>G (p.Gly986=)
c.2955T>G (p.Gly985=)
c.2766T>G (p.Gly922=)
c.615T>G (p.Gly205=)
n.375T>G
c.2838-12T>G (n.2838-12T>G)
n.7175T>G
n.344T>G
n.388T>G
n.930T>G
c.2856T>G (p.Gly952=)
c.2769T>G (p.Gly923=)
c.1728T>G (p.Gly576=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032179A>GCA500372007KANSL1c.2958T>C (p.Gly986=)
c.2955T>C (p.Gly985=)
c.2766T>C (p.Gly922=)
c.615T>C (p.Gly205=)
n.375T>C
c.2838-12T>C (n.2838-12T>C)
n.7175T>C
n.344T>C
n.388T>C
n.930T>C
c.2856T>C (p.Gly952=)
c.2769T>C (p.Gly923=)
c.1728T>C (p.Gly576=)
 ClinVar dbSNP
17g.46032179A>TCA500372008KANSL1c.2958T>A (p.Gly986=)
c.2955T>A (p.Gly985=)
c.2766T>A (p.Gly922=)
c.615T>A (p.Gly205=)
n.375T>A
c.2838-12T>A (n.2838-12T>A)
n.7175T>A
n.344T>A
n.388T>A
n.930T>A
c.2856T>A (p.Gly952=)
c.2769T>A (p.Gly923=)
c.1728T>A (p.Gly576=)
17g.46032179_46032181delinsACCCA2262111031KANSL1c.2956_2958delinsGGT (p.Gly986=)
c.2953_2955delinsGGT (p.Gly985=)
c.2764_2766delinsGGT (p.Gly922=)
c.613_615delinsGGT (p.Gly205=)
n.373_375delinsGGT
c.2838-14_2838-12delinsGGT (n.2838-14_2838-12delinsGGT)
n.7173_7175delinsGGT
n.342_344delinsGGT
n.386_388delinsGGT
n.928_930delinsGGT
c.2854_2856delinsGGT (p.Gly952=)
c.2767_2769delinsGGT (p.Gly923=)
c.1726_1728delinsGGT (p.Gly576=)
17g.46032180C>ACA399986913KANSL1c.2957G>T (p.Gly986Val)
c.2954G>T (p.Gly985Val)
c.2765G>T (p.Gly922Val)
c.614G>T (p.Gly205Val)
n.374G>T
c.2838-13G>T (n.2838-13G>T)
n.7174G>T
n.343G>T
n.387G>T
n.929G>T
c.2855G>T (p.Gly952Val)
c.2768G>T (p.Gly923Val)
c.1727G>T (p.Gly576Val)
17g.46032180C=CA2262111032KANSL1c.2957G= (p.Gly986=)
c.2954G= (p.Gly985=)
c.2765G= (p.Gly922=)
c.614G= (p.Gly205=)
n.374G=
c.2838-13G= (n.2838-13G=)
n.7174G=
n.343G=
n.387G=
n.929G=
c.2855G= (p.Gly952=)
c.2768G= (p.Gly923=)
c.1727G= (p.Gly576=)
17g.46032180C>GCA291125908KANSL1c.2957G>C (p.Gly986Ala)
c.2954G>C (p.Gly985Ala)
c.2765G>C (p.Gly922Ala)
c.614G>C (p.Gly205Ala)
n.374G>C
c.2838-13G>C (n.2838-13G>C)
n.7174G>C
n.343G>C
n.387G>C
n.929G>C
c.2855G>C (p.Gly952Ala)
c.2768G>C (p.Gly923Ala)
c.1727G>C (p.Gly576Ala)
 ClinVar dbSNP gnomAD v4
17g.46032180C>TCA399986910KANSL1c.2957G>A (p.Gly986Asp)
c.2954G>A (p.Gly985Asp)
c.2765G>A (p.Gly922Asp)
c.614G>A (p.Gly205Asp)
n.374G>A
c.2838-13G>A (n.2838-13G>A)
n.7174G>A
n.343G>A
n.387G>A
n.929G>A
c.2855G>A (p.Gly952Asp)
c.2768G>A (p.Gly923Asp)
c.1727G>A (p.Gly576Asp)
17g.46032180_46032181delCA915950166KANSL1c.2956_2957del (p.Gly986SerfsTer4)
c.2953_2954del (p.Gly985SerfsTer4)
c.2764_2765del (p.Gly922SerfsTer4)
c.613_614del (p.Gly205SerfsTer4)
n.373_374del
c.2838-14_2838-13del (n.2838-14_2838-13del)
n.7173_7174del
n.342_343del
n.386_387del
n.928_929del
c.2854_2855del (p.Gly952SerfsTer4)
c.2767_2768del (p.Gly923SerfsTer4)
c.1726_1727del (p.Gly576SerfsTer4)
 ClinVar dbSNP
17g.46032181C>ACA399986915KANSL1c.2956G>T (p.Gly986Cys)
c.2953G>T (p.Gly985Cys)
c.2764G>T (p.Gly922Cys)
c.613G>T (p.Gly205Cys)
n.373G>T
c.2838-14G>T (n.2838-14G>T)
n.7173G>T
n.342G>T
n.386G>T
n.928G>T
c.2854G>T (p.Gly952Cys)
c.2767G>T (p.Gly923Cys)
c.1726G>T (p.Gly576Cys)
17g.46032181C>GCA399986917KANSL1c.2956G>C (p.Gly986Arg)
c.2953G>C (p.Gly985Arg)
c.2764G>C (p.Gly922Arg)
c.613G>C (p.Gly205Arg)
n.373G>C
c.2838-14G>C (n.2838-14G>C)
n.7173G>C
n.342G>C
n.386G>C
n.928G>C
c.2854G>C (p.Gly952Arg)
c.2767G>C (p.Gly923Arg)
c.1726G>C (p.Gly576Arg)
17g.46032181C>TCA399986923KANSL1c.2956G>A (p.Gly986Ser)
c.2953G>A (p.Gly985Ser)
c.2764G>A (p.Gly922Ser)
c.613G>A (p.Gly205Ser)
n.373G>A
c.2838-14G>A (n.2838-14G>A)
n.7173G>A
n.342G>A
n.386G>A
n.928G>A
c.2854G>A (p.Gly952Ser)
c.2767G>A (p.Gly923Ser)
c.1726G>A (p.Gly576Ser)
 ClinVar dbSNP gnomAD v4
17g.46032182A>CCA399986927KANSL1c.2955T>G (p.His985Gln)
c.2952T>G (p.His984Gln)
c.2763T>G (p.His921Gln)
c.612T>G (p.His204Gln)
n.372T>G
c.2838-15T>G (n.2838-15T>G)
n.7172T>G
n.341T>G
n.385T>G
n.927T>G
c.2853T>G (p.His951Gln)
c.2766T>G (p.His922Gln)
c.1725T>G (p.His575Gln)
17g.46032182A>GCA500372009KANSL1c.2955T>C (p.His985=)
c.2952T>C (p.His984=)
c.2763T>C (p.His921=)
c.612T>C (p.His204=)
n.372T>C
c.2838-15T>C (n.2838-15T>C)
n.7172T>C
n.341T>C
n.385T>C
n.927T>C
c.2853T>C (p.His951=)
c.2766T>C (p.His922=)
c.1725T>C (p.His575=)
 gnomAD v4
17g.46032182A>TCA399986928KANSL1c.2955T>A (p.His985Gln)
c.2952T>A (p.His984Gln)
c.2763T>A (p.His921Gln)
c.612T>A (p.His204Gln)
n.372T>A
c.2838-15T>A (n.2838-15T>A)
n.7172T>A
n.341T>A
n.385T>A
n.927T>A
c.2853T>A (p.His951Gln)
c.2766T>A (p.His922Gln)
c.1725T>A (p.His575Gln)
17g.46032183T>ACA399986936KANSL1c.2954A>T (p.His985Leu)
c.2951A>T (p.His984Leu)
c.2762A>T (p.His921Leu)
c.611A>T (p.His204Leu)
n.371A>T
c.2838-16A>T (n.2838-16A>T)
n.7171A>T
n.340A>T
n.384A>T
n.926A>T
c.2852A>T (p.His951Leu)
c.2765A>T (p.His922Leu)
c.1724A>T (p.His575Leu)
17g.46032183T>CCA8618411KANSL1c.2954A>G (p.His985Arg)
c.2951A>G (p.His984Arg)
c.2762A>G (p.His921Arg)
c.611A>G (p.His204Arg)
n.371A>G
c.2838-16A>G (n.2838-16A>G)
n.7171A>G
n.340A>G
n.384A>G
n.926A>G
c.2852A>G (p.His951Arg)
c.2765A>G (p.His922Arg)
c.1724A>G (p.His575Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032183T>GCA399986934KANSL1c.2954A>C (p.His985Pro)
c.2951A>C (p.His984Pro)
c.2762A>C (p.His921Pro)
c.611A>C (p.His204Pro)
n.371A>C
c.2838-16A>C (n.2838-16A>C)
n.7171A>C
n.340A>C
n.384A>C
n.926A>C
c.2852A>C (p.His951Pro)
c.2765A>C (p.His922Pro)
c.1724A>C (p.His575Pro)
17g.46032183T=CA2262111033KANSL1c.2954A= (p.His985=)
c.2951A= (p.His984=)
c.2762A= (p.His921=)
c.611A= (p.His204=)
n.371A=
c.2838-16A= (n.2838-16A=)
n.7171A=
n.340A=
n.384A=
n.926A=
c.2852A= (p.His951=)
c.2765A= (p.His922=)
c.1724A= (p.His575=)
17g.46032184G>ACA399986940KANSL1c.2953C>T (p.His985Tyr)
c.2950C>T (p.His984Tyr)
c.2761C>T (p.His921Tyr)
c.610C>T (p.His204Tyr)
n.370C>T
c.2838-17C>T (n.2838-17C>T)
n.7170C>T
n.339C>T
n.383C>T
n.925C>T
c.2851C>T (p.His951Tyr)
c.2764C>T (p.His922Tyr)
c.1723C>T (p.His575Tyr)
 gnomAD v4
17g.46032184G>CCA399986941KANSL1c.2953C>G (p.His985Asp)
c.2950C>G (p.His984Asp)
c.2761C>G (p.His921Asp)
c.610C>G (p.His204Asp)
n.370C>G
c.2838-17C>G (n.2838-17C>G)
n.7170C>G
n.339C>G
n.383C>G
n.925C>G
c.2851C>G (p.His951Asp)
c.2764C>G (p.His922Asp)
c.1723C>G (p.His575Asp)
17g.46032184G>TCA399986942KANSL1c.2953C>A (p.His985Asn)
c.2950C>A (p.His984Asn)
c.2761C>A (p.His921Asn)
c.610C>A (p.His204Asn)
n.370C>A
c.2838-17C>A (n.2838-17C>A)
n.7170C>A
n.339C>A
n.383C>A
n.925C>A
c.2851C>A (p.His951Asn)
c.2764C>A (p.His922Asn)
c.1723C>A (p.His575Asn)
 gnomAD v4
17g.46032185G>ACA500372011KANSL1c.2952C>T (p.Ser984=)
c.2949C>T (p.Ser983=)
c.2760C>T (p.Ser920=)
c.609C>T (p.Ser203=)
n.369C>T
c.2838-18C>T (n.2838-18C>T)
n.7169C>T
n.338C>T
n.382C>T
n.924C>T
c.2850C>T (p.Ser950=)
c.2763C>T (p.Ser921=)
c.1722C>T (p.Ser574=)
 COSMIC
17g.46032185G>CCA8618412KANSL1c.2952C>G (p.Ser984=)
c.2949C>G (p.Ser983=)
c.2760C>G (p.Ser920=)
c.609C>G (p.Ser203=)
n.369C>G
c.2838-18C>G (n.2838-18C>G)
n.7169C>G
n.338C>G
n.382C>G
n.924C>G
c.2850C>G (p.Ser950=)
c.2763C>G (p.Ser921=)
c.1722C>G (p.Ser574=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032185G=CA2262111034KANSL1c.2952C= (p.Ser984=)
c.2949C= (p.Ser983=)
c.2760C= (p.Ser920=)
c.609C= (p.Ser203=)
n.369C=
c.2838-18C= (n.2838-18C=)
n.7169C=
n.338C=
n.382C=
n.924C=
c.2850C= (p.Ser950=)
c.2763C= (p.Ser921=)
c.1722C= (p.Ser574=)
17g.46032185G>TCA500372010KANSL1c.2952C>A (p.Ser984=)
c.2949C>A (p.Ser983=)
c.2760C>A (p.Ser920=)
c.609C>A (p.Ser203=)
n.369C>A
c.2838-18C>A (n.2838-18C>A)
n.7169C>A
n.338C>A
n.382C>A
n.924C>A
c.2850C>A (p.Ser950=)
c.2763C>A (p.Ser921=)
c.1722C>A (p.Ser574=)
17g.46032186G>ACA399986944KANSL1c.2951C>T (p.Ser984Phe)
c.2948C>T (p.Ser983Phe)
c.2759C>T (p.Ser920Phe)
n.899C>T
c.608C>T (p.Ser203Phe)
n.368C>T
c.2838-19C>T (n.2838-19C>T)
n.7168C>T
n.337C>T
n.381C>T
n.923C>T
c.2849C>T (p.Ser950Phe)
c.2762C>T (p.Ser921Phe)
c.1721C>T (p.Ser574Phe)
 COSMIC
17g.46032186G>CCA399986948KANSL1c.2951C>G (p.Ser984Cys)
c.2948C>G (p.Ser983Cys)
c.2759C>G (p.Ser920Cys)
n.899C>G
c.608C>G (p.Ser203Cys)
n.368C>G
c.2838-19C>G (n.2838-19C>G)
n.7168C>G
n.337C>G
n.381C>G
n.923C>G
c.2849C>G (p.Ser950Cys)
c.2762C>G (p.Ser921Cys)
c.1721C>G (p.Ser574Cys)
17g.46032186G=CA2262111035KANSL1c.2951C= (p.Ser984=)
c.2948C= (p.Ser983=)
c.2759C= (p.Ser920=)
n.899C=
c.608C= (p.Ser203=)
n.368C=
c.2838-19C= (n.2838-19C=)
n.7168C=
n.337C=
n.381C=
n.923C=
c.2849C= (p.Ser950=)
c.2762C= (p.Ser921=)
c.1721C= (p.Ser574=)
17g.46032186G>TCA315130KANSL1c.2951C>A (p.Ser984Tyr)
c.2948C>A (p.Ser983Tyr)
c.2759C>A (p.Ser920Tyr)
n.899C>A
c.608C>A (p.Ser203Tyr)
n.368C>A
c.2838-19C>A (n.2838-19C>A)
n.7168C>A
n.337C>A
n.381C>A
n.923C>A
c.2849C>A (p.Ser950Tyr)
c.2762C>A (p.Ser921Tyr)
c.1721C>A (p.Ser574Tyr)
 ClinVar dbSNP
17g.46032187A>CCA399986959KANSL1c.2950T>G (p.Ser984Ala)
c.2947T>G (p.Ser983Ala)
c.2758T>G (p.Ser920Ala)
n.898T>G
c.607T>G (p.Ser203Ala)
n.367T>G
c.2838-20T>G (n.2838-20T>G)
n.7167T>G
n.336T>G
n.380T>G
n.922T>G
c.2848T>G (p.Ser950Ala)
c.2761T>G (p.Ser921Ala)
c.1720T>G (p.Ser574Ala)
17g.46032187A>GCA399986962KANSL1c.2950T>C (p.Ser984Pro)
c.2947T>C (p.Ser983Pro)
c.2758T>C (p.Ser920Pro)
n.898T>C
c.607T>C (p.Ser203Pro)
n.367T>C
c.2838-20T>C (n.2838-20T>C)
n.7167T>C
n.336T>C
n.380T>C
n.922T>C
c.2848T>C (p.Ser950Pro)
c.2761T>C (p.Ser921Pro)
c.1720T>C (p.Ser574Pro)
17g.46032187A>TCA399986965KANSL1c.2950T>A (p.Ser984Thr)
c.2947T>A (p.Ser983Thr)
c.2758T>A (p.Ser920Thr)
n.898T>A
c.607T>A (p.Ser203Thr)
n.367T>A
c.2838-20T>A (n.2838-20T>A)
n.7167T>A
n.336T>A
n.380T>A
n.922T>A
c.2848T>A (p.Ser950Thr)
c.2761T>A (p.Ser921Thr)
c.1720T>A (p.Ser574Thr)
17g.46032188G>ACA291709KANSL1c.2949C>T (p.Tyr983=)
c.2946C>T (p.Tyr982=)
c.2757C>T (p.Tyr919=)
n.897C>T
c.606C>T (p.Tyr202=)
n.366C>T
c.2838-21C>T (n.2838-21C>T)
n.7166C>T
n.335C>T
n.379C>T
n.921C>T
c.2847C>T (p.Tyr949=)
c.2760C>T (p.Tyr920=)
c.1719C>T (p.Tyr573=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032188G>CCA399986972KANSL1c.2949C>G (p.Tyr983Ter)
c.2946C>G (p.Tyr982Ter)
c.2757C>G (p.Tyr919Ter)
n.897C>G
c.606C>G (p.Tyr202Ter)
n.366C>G
c.2838-21C>G (n.2838-21C>G)
n.7166C>G
n.335C>G
n.379C>G
n.921C>G
c.2847C>G (p.Tyr949Ter)
c.2760C>G (p.Tyr920Ter)
c.1719C>G (p.Tyr573Ter)
17g.46032188G=CA2262111036KANSL1c.2949C= (p.Tyr983=)
c.2946C= (p.Tyr982=)
c.2757C= (p.Tyr919=)
n.897C=
c.606C= (p.Tyr202=)
n.366C=
c.2838-21C= (n.2838-21C=)
n.7166C=
n.335C=
n.379C=
n.921C=
c.2847C= (p.Tyr949=)
c.2760C= (p.Tyr920=)
c.1719C= (p.Tyr573=)
17g.46032188G>TCA399986975KANSL1c.2949C>A (p.Tyr983Ter)
c.2946C>A (p.Tyr982Ter)
c.2757C>A (p.Tyr919Ter)
n.897C>A
c.606C>A (p.Tyr202Ter)
n.366C>A
c.2838-21C>A (n.2838-21C>A)
n.7166C>A
n.335C>A
n.379C>A
n.921C>A
c.2847C>A (p.Tyr949Ter)
c.2760C>A (p.Tyr920Ter)
c.1719C>A (p.Tyr573Ter)
17g.46032189T>ACA399986979KANSL1c.2948A>T (p.Tyr983Phe)
c.2945A>T (p.Tyr982Phe)
c.2756A>T (p.Tyr919Phe)
n.896A>T
c.605A>T (p.Tyr202Phe)
n.365A>T
c.2838-22A>T (n.2838-22A>T)
n.7165A>T
n.334A>T
n.378A>T
n.920A>T
c.2846A>T (p.Tyr949Phe)
c.2759A>T (p.Tyr920Phe)
c.1718A>T (p.Tyr573Phe)
17g.46032189T>CCA399986982KANSL1c.2948A>G (p.Tyr983Cys)
c.2945A>G (p.Tyr982Cys)
c.2756A>G (p.Tyr919Cys)
n.896A>G
c.605A>G (p.Tyr202Cys)
n.365A>G
c.2838-22A>G (n.2838-22A>G)
n.7165A>G
n.334A>G
n.378A>G
n.920A>G
c.2846A>G (p.Tyr949Cys)
c.2759A>G (p.Tyr920Cys)
c.1718A>G (p.Tyr573Cys)
17g.46032189T>GCA399986980KANSL1c.2948A>C (p.Tyr983Ser)
c.2945A>C (p.Tyr982Ser)
c.2756A>C (p.Tyr919Ser)
n.896A>C
c.605A>C (p.Tyr202Ser)
n.365A>C
c.2838-22A>C (n.2838-22A>C)
n.7165A>C
n.334A>C
n.378A>C
n.920A>C
c.2846A>C (p.Tyr949Ser)
c.2759A>C (p.Tyr920Ser)
c.1718A>C (p.Tyr573Ser)
17g.46032190A>CCA399986985KANSL1c.2947T>G (p.Tyr983Asp)
c.2944T>G (p.Tyr982Asp)
c.2755T>G (p.Tyr919Asp)
n.895T>G
c.604T>G (p.Tyr202Asp)
n.364T>G
c.2838-23T>G (n.2838-23T>G)
n.7164T>G
n.333T>G
n.377T>G
n.919T>G
c.2845T>G (p.Tyr949Asp)
c.2758T>G (p.Tyr920Asp)
c.1717T>G (p.Tyr573Asp)
17g.46032190A>GCA399986988KANSL1c.2947T>C (p.Tyr983His)
c.2944T>C (p.Tyr982His)
c.2755T>C (p.Tyr919His)
n.895T>C
c.604T>C (p.Tyr202His)
n.364T>C
c.2838-23T>C (n.2838-23T>C)
n.7164T>C
n.333T>C
n.377T>C
n.919T>C
c.2845T>C (p.Tyr949His)
c.2758T>C (p.Tyr920His)
c.1717T>C (p.Tyr573His)
17g.46032190A>TCA399986990KANSL1c.2947T>A (p.Tyr983Asn)
c.2944T>A (p.Tyr982Asn)
c.2755T>A (p.Tyr919Asn)
n.895T>A
c.604T>A (p.Tyr202Asn)
n.364T>A
c.2838-23T>A (n.2838-23T>A)
n.7164T>A
n.333T>A
n.377T>A
n.919T>A
c.2845T>A (p.Tyr949Asn)
c.2758T>A (p.Tyr920Asn)
c.1717T>A (p.Tyr573Asn)
 gnomAD v4
17g.46032191T>ACA399986992KANSL1c.2946A>T (p.Glu982Asp)
c.2943A>T (p.Glu981Asp)
c.2754A>T (p.Glu918Asp)
n.894A>T
c.603A>T (p.Glu201Asp)
n.363A>T
c.2838-24A>T (n.2838-24A>T)
n.7163A>T
n.332A>T
n.376A>T
n.918A>T
c.2844A>T (p.Glu948Asp)
c.2757A>T (p.Glu919Asp)
c.1716A>T (p.Glu572Asp)
17g.46032191T>CCA291125919KANSL1c.2946A>G (p.Glu982=)
c.2943A>G (p.Glu981=)
c.2754A>G (p.Glu918=)
n.894A>G
c.603A>G (p.Glu201=)
n.363A>G
c.2838-24A>G (n.2838-24A>G)
n.7163A>G
n.332A>G
n.376A>G
n.918A>G
c.2844A>G (p.Glu948=)
c.2757A>G (p.Glu919=)
c.1716A>G (p.Glu572=)
 dbSNP gnomAD v2 gnomAD v4
17g.46032191T>GCA399986995KANSL1c.2946A>C (p.Glu982Asp)
c.2943A>C (p.Glu981Asp)
c.2754A>C (p.Glu918Asp)
n.894A>C
c.603A>C (p.Glu201Asp)
n.363A>C
c.2838-24A>C (n.2838-24A>C)
n.7163A>C
n.332A>C
n.376A>C
n.918A>C
c.2844A>C (p.Glu948Asp)
c.2757A>C (p.Glu919Asp)
c.1716A>C (p.Glu572Asp)
17g.46032191T=CA2262111037KANSL1c.2946A= (p.Glu982=)
c.2943A= (p.Glu981=)
c.2754A= (p.Glu918=)
n.894A=
c.603A= (p.Glu201=)
n.363A=
c.2838-24A= (n.2838-24A=)
n.7163A=
n.332A=
n.376A=
n.918A=
c.2844A= (p.Glu948=)
c.2757A= (p.Glu919=)
c.1716A= (p.Glu572=)
17g.46032192T>ACA399987003KANSL1c.2945A>T (p.Glu982Val)
c.2942A>T (p.Glu981Val)
c.2753A>T (p.Glu918Val)
n.893A>T
c.602A>T (p.Glu201Val)
n.362A>T
c.2838-25A>T (n.2838-25A>T)
n.7162A>T
n.331A>T
n.375A>T
n.917A>T
c.2843A>T (p.Glu948Val)
c.2756A>T (p.Glu919Val)
c.1715A>T (p.Glu572Val)
17g.46032192T>CCA399987000KANSL1c.2945A>G (p.Glu982Gly)
c.2942A>G (p.Glu981Gly)
c.2753A>G (p.Glu918Gly)
n.893A>G
c.602A>G (p.Glu201Gly)
n.362A>G
c.2838-25A>G (n.2838-25A>G)
n.7162A>G
n.331A>G
n.375A>G
n.917A>G
c.2843A>G (p.Glu948Gly)
c.2756A>G (p.Glu919Gly)
c.1715A>G (p.Glu572Gly)
17g.46032192T>GCA399986998KANSL1c.2945A>C (p.Glu982Ala)
c.2942A>C (p.Glu981Ala)
c.2753A>C (p.Glu918Ala)
n.893A>C
c.602A>C (p.Glu201Ala)
n.362A>C
c.2838-25A>C (n.2838-25A>C)
n.7162A>C
n.331A>C
n.375A>C
n.917A>C
c.2843A>C (p.Glu948Ala)
c.2756A>C (p.Glu919Ala)
c.1715A>C (p.Glu572Ala)
17g.46032193C>ACA399987007KANSL1c.2944G>T (p.Glu982Ter)
c.2941G>T (p.Glu981Ter)
c.2752G>T (p.Glu918Ter)
n.892G>T
c.601G>T (p.Glu201Ter)
n.361G>T
c.2838-26G>T (n.2838-26G>T)
n.7161G>T
n.330G>T
n.374G>T
n.916G>T
c.2842G>T (p.Glu948Ter)
c.2755G>T (p.Glu919Ter)
c.1714G>T (p.Glu572Ter)
17g.46032193C>GCA399987012KANSL1c.2944G>C (p.Glu982Gln)
c.2941G>C (p.Glu981Gln)
c.2752G>C (p.Glu918Gln)
n.892G>C
c.601G>C (p.Glu201Gln)
n.361G>C
c.2838-26G>C (n.2838-26G>C)
n.7161G>C
n.330G>C
n.374G>C
n.916G>C
c.2842G>C (p.Glu948Gln)
c.2755G>C (p.Glu919Gln)
c.1714G>C (p.Glu572Gln)
17g.46032193C>TCA399987013KANSL1c.2944G>A (p.Glu982Lys)
c.2941G>A (p.Glu981Lys)
c.2752G>A (p.Glu918Lys)
n.892G>A
c.601G>A (p.Glu201Lys)
n.361G>A
c.2838-26G>A (n.2838-26G>A)
n.7161G>A
n.330G>A
n.374G>A
n.916G>A
c.2842G>A (p.Glu948Lys)
c.2755G>A (p.Glu919Lys)
c.1714G>A (p.Glu572Lys)
17g.46032194T>ACA500372014KANSL1c.2943A>T (p.Ser981=)
c.2940A>T (p.Ser980=)
c.2751A>T (p.Ser917=)
n.891A>T
c.600A>T (p.Ser200=)
n.360A>T
c.2838-27A>T (n.2838-27A>T)
n.7160A>T
n.329A>T
n.373A>T
n.915A>T
c.2841A>T (p.Ser947=)
c.2754A>T (p.Ser918=)
c.1713A>T (p.Ser571=)
17g.46032194T>CCA500372015KANSL1c.2943A>G (p.Ser981=)
c.2940A>G (p.Ser980=)
c.2751A>G (p.Ser917=)
n.891A>G
c.600A>G (p.Ser200=)
n.360A>G
c.2838-27A>G (n.2838-27A>G)
n.7160A>G
n.329A>G
n.373A>G
n.915A>G
c.2841A>G (p.Ser947=)
c.2754A>G (p.Ser918=)
c.1713A>G (p.Ser571=)
17g.46032194T>GCA500372013KANSL1c.2943A>C (p.Ser981=)
c.2940A>C (p.Ser980=)
c.2751A>C (p.Ser917=)
n.891A>C
c.600A>C (p.Ser200=)
n.360A>C
c.2838-27A>C (n.2838-27A>C)
n.7160A>C
n.329A>C
n.373A>C
n.915A>C
c.2841A>C (p.Ser947=)
c.2754A>C (p.Ser918=)
c.1713A>C (p.Ser571=)

Number of alleles fetched