Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
17g.46032195G>ACA399987016KANSL1c.2942C>T (p.Ser981Leu)
c.2939C>T (p.Ser980Leu)
c.2750C>T (p.Ser917Leu)
n.890C>T
c.599C>T (p.Ser200Leu)
n.359C>T
c.2838-28C>T (n.2838-28C>T)
n.7159C>T
n.328C>T
n.372C>T
n.914C>T
c.2840C>T (p.Ser947Leu)
c.2753C>T (p.Ser918Leu)
c.1712C>T (p.Ser571Leu)
17g.46032195G>CCA399987019KANSL1c.2942C>G (p.Ser981Ter)
c.2939C>G (p.Ser980Ter)
c.2750C>G (p.Ser917Ter)
n.890C>G
c.599C>G (p.Ser200Ter)
n.359C>G
c.2838-28C>G (n.2838-28C>G)
n.7159C>G
n.328C>G
n.372C>G
n.914C>G
c.2840C>G (p.Ser947Ter)
c.2753C>G (p.Ser918Ter)
c.1712C>G (p.Ser571Ter)
17g.46032195G>TCA399987027KANSL1c.2942C>A (p.Ser981Ter)
c.2939C>A (p.Ser980Ter)
c.2750C>A (p.Ser917Ter)
n.890C>A
c.599C>A (p.Ser200Ter)
n.359C>A
c.2838-28C>A (n.2838-28C>A)
n.7159C>A
n.328C>A
n.372C>A
n.914C>A
c.2840C>A (p.Ser947Ter)
c.2753C>A (p.Ser918Ter)
c.1712C>A (p.Ser571Ter)
17g.46032196A=CA2262111038KANSL1c.2941T= (p.Ser981=)
c.2938T= (p.Ser980=)
c.2749T= (p.Ser917=)
n.889T=
c.598T= (p.Ser200=)
n.358T=
c.2838-29T= (n.2838-29T=)
n.7158T=
n.327T=
n.371T=
n.913T=
c.2839T= (p.Ser947=)
c.2752T= (p.Ser918=)
c.1711T= (p.Ser571=)
17g.46032196A>CCA399987031KANSL1c.2941T>G (p.Ser981Ala)
c.2938T>G (p.Ser980Ala)
c.2749T>G (p.Ser917Ala)
n.889T>G
c.598T>G (p.Ser200Ala)
n.358T>G
c.2838-29T>G (n.2838-29T>G)
n.7158T>G
n.327T>G
n.371T>G
n.913T>G
c.2839T>G (p.Ser947Ala)
c.2752T>G (p.Ser918Ala)
c.1711T>G (p.Ser571Ala)
17g.46032196A>GCA399987035KANSL1c.2941T>C (p.Ser981Pro)
c.2938T>C (p.Ser980Pro)
c.2749T>C (p.Ser917Pro)
n.889T>C
c.598T>C (p.Ser200Pro)
n.358T>C
c.2838-29T>C (n.2838-29T>C)
n.7158T>C
n.327T>C
n.371T>C
n.913T>C
c.2839T>C (p.Ser947Pro)
c.2752T>C (p.Ser918Pro)
c.1711T>C (p.Ser571Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.46032196A>TCA399987034KANSL1c.2941T>A (p.Ser981Thr)
c.2938T>A (p.Ser980Thr)
c.2749T>A (p.Ser917Thr)
n.889T>A
c.598T>A (p.Ser200Thr)
n.358T>A
c.2838-29T>A (n.2838-29T>A)
n.7158T>A
n.327T>A
n.371T>A
n.913T>A
c.2839T>A (p.Ser947Thr)
c.2752T>A (p.Ser918Thr)
c.1711T>A (p.Ser571Thr)
17g.46032197_46032198delCA2695226190KANSL1c.2940_2941del (p.Leu980PhefsTer10)
c.2937_2938del (p.Leu979PhefsTer10)
c.2748_2749del (p.Leu916PhefsTer10)
n.888_889del
c.597_598del (p.Leu199PhefsTer10)
n.357_358del
c.2838-30_2838-29del (n.2838-30_2838-29del)
n.7157_7158del
n.326_327del
n.370_371del
n.912_913del
c.2838_2839del (p.Leu946PhefsTer10)
c.2751_2752del (p.Leu917PhefsTer10)
c.1710_1711del (p.Leu570PhefsTer10)
17g.46032197C>ACA399987036KANSL1c.2940G>T (p.Leu980Phe)
c.2937G>T (p.Leu979Phe)
c.2748G>T (p.Leu916Phe)
n.888G>T
c.597G>T (p.Leu199Phe)
n.357G>T
c.2838-30G>T (n.2838-30G>T)
n.7157G>T
n.326G>T
n.370G>T
n.912G>T
c.2838G>T (p.Leu946Phe)
c.2751G>T (p.Leu917Phe)
c.1710G>T (p.Leu570Phe)
17g.46032197C=CA2262111040KANSL1c.2940G= (p.Leu980=)
c.2937G= (p.Leu979=)
c.2748G= (p.Leu916=)
n.888G=
c.597G= (p.Leu199=)
n.357G=
c.2838-30G= (n.2838-30G=)
n.7157G=
n.326G=
n.370G=
n.912G=
c.2838G= (p.Leu946=)
c.2751G= (p.Leu917=)
c.1710G= (p.Leu570=)
17g.46032197C>GCA399987037KANSL1c.2940G>C (p.Leu980Phe)
c.2937G>C (p.Leu979Phe)
c.2748G>C (p.Leu916Phe)
n.888G>C
c.597G>C (p.Leu199Phe)
n.357G>C
c.2838-30G>C (n.2838-30G>C)
n.7157G>C
n.326G>C
n.370G>C
n.912G>C
c.2838G>C (p.Leu946Phe)
c.2751G>C (p.Leu917Phe)
c.1710G>C (p.Leu570Phe)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.46032197C>TCA500372016KANSL1c.2940G>A (p.Leu980=)
c.2937G>A (p.Leu979=)
c.2748G>A (p.Leu916=)
n.888G>A
c.597G>A (p.Leu199=)
n.357G>A
c.2838-30G>A (n.2838-30G>A)
n.7157G>A
n.326G>A
n.370G>A
n.912G>A
c.2838G>A (p.Leu946=)
c.2751G>A (p.Leu917=)
c.1710G>A (p.Leu570=)
gnomAD v4
17g.46032197_46032199delinsCAACA2262111039KANSL1c.2938_2940delinsTTG (p.Leu980=)
c.2935_2937delinsTTG (p.Leu979=)
c.2746_2748delinsTTG (p.Leu916=)
n.886_888delinsTTG
c.595_597delinsTTG (p.Leu199=)
n.355_357delinsTTG
c.2838-32_2838-30delinsTTG (n.2838-32_2838-30delinsTTG)
n.7155_7157delinsTTG
n.324_326delinsTTG
n.368_370delinsTTG
n.910_912delinsTTG
c.2836_2838delinsTTG (p.Leu946=)
c.2749_2751delinsTTG (p.Leu917=)
c.1708_1710delinsTTG (p.Leu570=)
17g.46032198A=CA2262111041KANSL1c.2939T= (p.Leu980=)
c.2936T= (p.Leu979=)
c.2747T= (p.Leu916=)
n.887T=
c.596T= (p.Leu199=)
n.356T=
c.2838-31T= (n.2838-31T=)
n.7156T=
n.325T=
n.369T=
n.911T=
c.2837T= (p.Leu946=)
c.2750T= (p.Leu917=)
c.1709T= (p.Leu570=)
17g.46032198A>CCA399987039KANSL1c.2939T>G (p.Leu980Trp)
c.2936T>G (p.Leu979Trp)
c.2747T>G (p.Leu916Trp)
n.887T>G
c.596T>G (p.Leu199Trp)
n.356T>G
c.2838-31T>G (n.2838-31T>G)
n.7156T>G
n.325T>G
n.369T>G
n.911T>G
c.2837T>G (p.Leu946Trp)
c.2750T>G (p.Leu917Trp)
c.1709T>G (p.Leu570Trp)
17g.46032198A>GCA399987042KANSL1c.2939T>C (p.Leu980Ser)
c.2936T>C (p.Leu979Ser)
c.2747T>C (p.Leu916Ser)
n.887T>C
c.596T>C (p.Leu199Ser)
n.356T>C
c.2838-31T>C (n.2838-31T>C)
n.7156T>C
n.325T>C
n.369T>C
n.911T>C
c.2837T>C (p.Leu946Ser)
c.2750T>C (p.Leu917Ser)
c.1709T>C (p.Leu570Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46032198A>TCA399987046KANSL1c.2939T>A (p.Leu980Ter)
c.2936T>A (p.Leu979Ter)
c.2747T>A (p.Leu916Ter)
n.887T>A
c.596T>A (p.Leu199Ter)
n.356T>A
c.2838-31T>A (n.2838-31T>A)
n.7156T>A
n.325T>A
n.369T>A
n.911T>A
c.2837T>A (p.Leu946Ter)
c.2750T>A (p.Leu917Ter)
c.1709T>A (p.Leu570Ter)
17g.46032199_46032200delCA913191107KANSL1c.2938_2939del (p.Leu980ValfsTer10)
c.2935_2936del (p.Leu979ValfsTer10)
c.2746_2747del (p.Leu916ValfsTer10)
n.886_887del
c.595_596del (p.Leu199ValfsTer10)
n.355_356del
c.2838-32_2838-31del (n.2838-32_2838-31del)
n.7155_7156del
n.324_325del
n.368_369del
n.910_911del
c.2836_2837del (p.Leu946ValfsTer10)
c.2749_2750del (p.Leu917ValfsTer10)
c.1708_1709del (p.Leu570ValfsTer10)
ClinVar
17g.46032199A>CCA399987049KANSL1c.2938T>G (p.Leu980Val)
c.2935T>G (p.Leu979Val)
c.2746T>G (p.Leu916Val)
n.886T>G
c.595T>G (p.Leu199Val)
n.355T>G
c.2838-32T>G (n.2838-32T>G)
n.7155T>G
n.324T>G
n.368T>G
n.910T>G
c.2836T>G (p.Leu946Val)
c.2749T>G (p.Leu917Val)
c.1708T>G (p.Leu570Val)
17g.46032199A>GCA500372017KANSL1c.2938T>C (p.Leu980=)
c.2935T>C (p.Leu979=)
c.2746T>C (p.Leu916=)
n.886T>C
c.595T>C (p.Leu199=)
n.355T>C
c.2838-32T>C (n.2838-32T>C)
n.7155T>C
n.324T>C
n.368T>C
n.910T>C
c.2836T>C (p.Leu946=)
c.2749T>C (p.Leu917=)
c.1708T>C (p.Leu570=)
17g.46032199A>TCA399987051KANSL1c.2938T>A (p.Leu980Met)
c.2935T>A (p.Leu979Met)
c.2746T>A (p.Leu916Met)
n.886T>A
c.595T>A (p.Leu199Met)
n.355T>A
c.2838-32T>A (n.2838-32T>A)
n.7155T>A
n.324T>A
n.368T>A
n.910T>A
c.2836T>A (p.Leu946Met)
c.2749T>A (p.Leu917Met)
c.1708T>A (p.Leu570Met)
17g.46032200A>CCA500372019KANSL1c.2937T>G (p.Ser979=)
c.2934T>G (p.Ser978=)
c.2745T>G (p.Ser915=)
n.885T>G
c.594T>G (p.Ser198=)
n.354T>G
c.2838-33T>G (n.2838-33T>G)
n.7154T>G
n.323T>G
n.367T>G
n.909T>G
c.2835T>G (p.Ser945=)
c.2748T>G (p.Ser916=)
c.1707T>G (p.Ser569=)
17g.46032200A>GCA500372020KANSL1c.2937T>C (p.Ser979=)
c.2934T>C (p.Ser978=)
c.2745T>C (p.Ser915=)
n.885T>C
c.594T>C (p.Ser198=)
n.354T>C
c.2838-33T>C (n.2838-33T>C)
n.7154T>C
n.323T>C
n.367T>C
n.909T>C
c.2835T>C (p.Ser945=)
c.2748T>C (p.Ser916=)
c.1707T>C (p.Ser569=)
gnomAD v4
17g.46032200A>TCA500372018KANSL1c.2937T>A (p.Ser979=)
c.2934T>A (p.Ser978=)
c.2745T>A (p.Ser915=)
n.885T>A
c.594T>A (p.Ser198=)
n.354T>A
c.2838-33T>A (n.2838-33T>A)
n.7154T>A
n.323T>A
n.367T>A
n.909T>A
c.2835T>A (p.Ser945=)
c.2748T>A (p.Ser916=)
c.1707T>A (p.Ser569=)
17g.46032201G>ACA399987054KANSL1c.2936C>T (p.Ser979Phe)
c.2933C>T (p.Ser978Phe)
c.2744C>T (p.Ser915Phe)
n.884C>T
c.593C>T (p.Ser198Phe)
n.353C>T
c.2838-34C>T (n.2838-34C>T)
n.7153C>T
n.322C>T
n.366C>T
n.908C>T
c.2834C>T (p.Ser945Phe)
c.2747C>T (p.Ser916Phe)
c.1706C>T (p.Ser569Phe)
17g.46032201G>CCA399987056KANSL1c.2936C>G (p.Ser979Cys)
c.2933C>G (p.Ser978Cys)
c.2744C>G (p.Ser915Cys)
n.884C>G
c.593C>G (p.Ser198Cys)
n.353C>G
c.2838-34C>G (n.2838-34C>G)
n.7153C>G
n.322C>G
n.366C>G
n.908C>G
c.2834C>G (p.Ser945Cys)
c.2747C>G (p.Ser916Cys)
c.1706C>G (p.Ser569Cys)
17g.46032201G>TCA399987059KANSL1c.2936C>A (p.Ser979Tyr)
c.2933C>A (p.Ser978Tyr)
c.2744C>A (p.Ser915Tyr)
n.884C>A
c.593C>A (p.Ser198Tyr)
n.353C>A
c.2838-34C>A (n.2838-34C>A)
n.7153C>A
n.322C>A
n.366C>A
n.908C>A
c.2834C>A (p.Ser945Tyr)
c.2747C>A (p.Ser916Tyr)
c.1706C>A (p.Ser569Tyr)
17g.46032202A>CCA399987062KANSL1c.2935T>G (p.Ser979Ala)
c.2932T>G (p.Ser978Ala)
c.2743T>G (p.Ser915Ala)
n.883T>G
c.592T>G (p.Ser198Ala)
n.352T>G
c.2838-35T>G (n.2838-35T>G)
n.7152T>G
n.321T>G
n.365T>G
n.907T>G
c.2833T>G (p.Ser945Ala)
c.2746T>G (p.Ser916Ala)
c.1705T>G (p.Ser569Ala)
17g.46032202A>GCA399987065KANSL1c.2935T>C (p.Ser979Pro)
c.2932T>C (p.Ser978Pro)
c.2743T>C (p.Ser915Pro)
n.883T>C
c.592T>C (p.Ser198Pro)
n.352T>C
c.2838-35T>C (n.2838-35T>C)
n.7152T>C
n.321T>C
n.365T>C
n.907T>C
c.2833T>C (p.Ser945Pro)
c.2746T>C (p.Ser916Pro)
c.1705T>C (p.Ser569Pro)
17g.46032202A>TCA399987063KANSL1c.2935T>A (p.Ser979Thr)
c.2932T>A (p.Ser978Thr)
c.2743T>A (p.Ser915Thr)
n.883T>A
c.592T>A (p.Ser198Thr)
n.352T>A
c.2838-35T>A (n.2838-35T>A)
n.7152T>A
n.321T>A
n.365T>A
n.907T>A
c.2833T>A (p.Ser945Thr)
c.2746T>A (p.Ser916Thr)
c.1705T>A (p.Ser569Thr)
17g.46032203G>ACA500372021KANSL1c.2934C>T (p.His978=)
c.2931C>T (p.His977=)
c.2742C>T (p.His914=)
n.882C>T
c.591C>T (p.His197=)
n.351C>T
c.2838-36C>T (n.2838-36C>T)
n.7151C>T
n.320C>T
n.364C>T
n.906C>T
c.2832C>T (p.His944=)
c.2745C>T (p.His915=)
c.1704C>T (p.His568=)
gnomAD v4
17g.46032203G>CCA8618413KANSL1c.2934C>G (p.His978Gln)
c.2931C>G (p.His977Gln)
c.2742C>G (p.His914Gln)
n.882C>G
c.591C>G (p.His197Gln)
n.351C>G
c.2838-36C>G (n.2838-36C>G)
n.7151C>G
n.320C>G
n.364C>G
n.906C>G
c.2832C>G (p.His944Gln)
c.2745C>G (p.His915Gln)
c.1704C>G (p.His568Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032203G=CA2262111042KANSL1c.2934C= (p.His978=)
c.2931C= (p.His977=)
c.2742C= (p.His914=)
n.882C=
c.591C= (p.His197=)
n.351C=
c.2838-36C= (n.2838-36C=)
n.7151C=
n.320C=
n.364C=
n.906C=
c.2832C= (p.His944=)
c.2745C= (p.His915=)
c.1704C= (p.His568=)
17g.46032203G>TCA399987070KANSL1c.2934C>A (p.His978Gln)
c.2931C>A (p.His977Gln)
c.2742C>A (p.His914Gln)
n.882C>A
c.591C>A (p.His197Gln)
n.351C>A
c.2838-36C>A (n.2838-36C>A)
n.7151C>A
n.320C>A
n.364C>A
n.906C>A
c.2832C>A (p.His944Gln)
c.2745C>A (p.His915Gln)
c.1704C>A (p.His568Gln)
17g.46032204T>ACA399987072KANSL1c.2933A>T (p.His978Leu)
c.2930A>T (p.His977Leu)
c.2741A>T (p.His914Leu)
n.881A>T
c.590A>T (p.His197Leu)
n.350A>T
c.2838-37A>T (n.2838-37A>T)
n.7150A>T
n.319A>T
n.363A>T
n.905A>T
c.2831A>T (p.His944Leu)
c.2744A>T (p.His915Leu)
c.1703A>T (p.His568Leu)
dbSNP
17g.46032204T>CCA399987073KANSL1c.2933A>G (p.His978Arg)
c.2930A>G (p.His977Arg)
c.2741A>G (p.His914Arg)
n.881A>G
c.590A>G (p.His197Arg)
n.350A>G
c.2838-37A>G (n.2838-37A>G)
n.7150A>G
n.319A>G
n.363A>G
n.905A>G
c.2831A>G (p.His944Arg)
c.2744A>G (p.His915Arg)
c.1703A>G (p.His568Arg)
17g.46032204T>GCA399987074KANSL1c.2933A>C (p.His978Pro)
c.2930A>C (p.His977Pro)
c.2741A>C (p.His914Pro)
n.881A>C
c.590A>C (p.His197Pro)
n.350A>C
c.2838-37A>C (n.2838-37A>C)
n.7150A>C
n.319A>C
n.363A>C
n.905A>C
c.2831A>C (p.His944Pro)
c.2744A>C (p.His915Pro)
c.1703A>C (p.His568Pro)
17g.46032204T=CA2262111043KANSL1c.2933A= (p.His978=)
c.2930A= (p.His977=)
c.2741A= (p.His914=)
n.881A=
c.590A= (p.His197=)
n.350A=
c.2838-37A= (n.2838-37A=)
n.7150A=
n.319A=
n.363A=
n.905A=
c.2831A= (p.His944=)
c.2744A= (p.His915=)
c.1703A= (p.His568=)
17g.46032205G>ACA399987075KANSL1c.2932C>T (p.His978Tyr)
c.2929C>T (p.His977Tyr)
c.2740C>T (p.His914Tyr)
n.880C>T
c.589C>T (p.His197Tyr)
n.349C>T
c.2838-38C>T (n.2838-38C>T)
n.7149C>T
n.318C>T
n.362C>T
n.904C>T
c.2830C>T (p.His944Tyr)
c.2743C>T (p.His915Tyr)
c.1702C>T (p.His568Tyr)
dbSNP gnomAD v4
17g.46032205G>CCA399987077KANSL1c.2932C>G (p.His978Asp)
c.2929C>G (p.His977Asp)
c.2740C>G (p.His914Asp)
n.880C>G
c.589C>G (p.His197Asp)
n.349C>G
c.2838-38C>G (n.2838-38C>G)
n.7149C>G
n.318C>G
n.362C>G
n.904C>G
c.2830C>G (p.His944Asp)
c.2743C>G (p.His915Asp)
c.1702C>G (p.His568Asp)
17g.46032205G=CA2262111044KANSL1c.2932C= (p.His978=)
c.2929C= (p.His977=)
c.2740C= (p.His914=)
n.880C=
c.589C= (p.His197=)
n.349C=
c.2838-38C= (n.2838-38C=)
n.7149C=
n.318C=
n.362C=
n.904C=
c.2830C= (p.His944=)
c.2743C= (p.His915=)
c.1702C= (p.His568=)
17g.46032205G>TCA399987084KANSL1c.2932C>A (p.His978Asn)
c.2929C>A (p.His977Asn)
c.2740C>A (p.His914Asn)
n.880C>A
c.589C>A (p.His197Asn)
n.349C>A
c.2838-38C>A (n.2838-38C>A)
n.7149C>A
n.318C>A
n.362C>A
n.904C>A
c.2830C>A (p.His944Asn)
c.2743C>A (p.His915Asn)
c.1702C>A (p.His568Asn)
17g.46032206G>ACA500372022KANSL1c.2931C>T (p.Ser977=)
c.2928C>T (p.Ser976=)
c.2739C>T (p.Ser913=)
n.879C>T
c.588C>T (p.Ser196=)
n.348C>T
c.2838-39C>T (n.2838-39C>T)
n.7148C>T
n.317C>T
n.361C>T
n.903C>T
c.2829C>T (p.Ser943=)
c.2742C>T (p.Ser914=)
c.1701C>T (p.Ser567=)
ClinVar dbSNP
17g.46032206G>CCA399987088KANSL1c.2931C>G (p.Ser977Arg)
c.2928C>G (p.Ser976Arg)
c.2739C>G (p.Ser913Arg)
n.879C>G
c.588C>G (p.Ser196Arg)
n.348C>G
c.2838-39C>G (n.2838-39C>G)
n.7148C>G
n.317C>G
n.361C>G
n.903C>G
c.2829C>G (p.Ser943Arg)
c.2742C>G (p.Ser914Arg)
c.1701C>G (p.Ser567Arg)
17g.46032206G>TCA399987089KANSL1c.2931C>A (p.Ser977Arg)
c.2928C>A (p.Ser976Arg)
c.2739C>A (p.Ser913Arg)
n.879C>A
c.588C>A (p.Ser196Arg)
n.348C>A
c.2838-39C>A (n.2838-39C>A)
n.7148C>A
n.317C>A
n.361C>A
n.903C>A
c.2829C>A (p.Ser943Arg)
c.2742C>A (p.Ser914Arg)
c.1701C>A (p.Ser567Arg)
17g.46032207C>ACA399987091KANSL1c.2930G>T (p.Ser977Ile)
c.2927G>T (p.Ser976Ile)
c.2738G>T (p.Ser913Ile)
n.878G>T
c.587G>T (p.Ser196Ile)
n.347G>T
c.2838-40G>T (n.2838-40G>T)
n.7147G>T
n.316G>T
n.360G>T
n.902G>T
c.2828G>T (p.Ser943Ile)
c.2741G>T (p.Ser914Ile)
c.1700G>T (p.Ser567Ile)
17g.46032207C>GCA399987093KANSL1c.2930G>C (p.Ser977Thr)
c.2927G>C (p.Ser976Thr)
c.2738G>C (p.Ser913Thr)
n.878G>C
c.587G>C (p.Ser196Thr)
n.347G>C
c.2838-40G>C (n.2838-40G>C)
n.7147G>C
n.316G>C
n.360G>C
n.902G>C
c.2828G>C (p.Ser943Thr)
c.2741G>C (p.Ser914Thr)
c.1700G>C (p.Ser567Thr)
17g.46032207C>TCA399987094KANSL1c.2930G>A (p.Ser977Asn)
c.2927G>A (p.Ser976Asn)
c.2738G>A (p.Ser913Asn)
n.878G>A
c.587G>A (p.Ser196Asn)
n.347G>A
c.2838-40G>A (n.2838-40G>A)
n.7147G>A
n.316G>A
n.360G>A
n.902G>A
c.2828G>A (p.Ser943Asn)
c.2741G>A (p.Ser914Asn)
c.1700G>A (p.Ser567Asn)
gnomAD v4
17g.46032208T>ACA399987101KANSL1c.2929A>T (p.Ser977Cys)
c.2926A>T (p.Ser976Cys)
c.2737A>T (p.Ser913Cys)
n.877A>T
c.586A>T (p.Ser196Cys)
n.346A>T
c.2838-41A>T (n.2838-41A>T)
n.7146A>T
n.315A>T
n.359A>T
n.901A>T
c.2827A>T (p.Ser943Cys)
c.2740A>T (p.Ser914Cys)
c.1699A>T (p.Ser567Cys)
17g.46032208T>CCA399987096KANSL1c.2929A>G (p.Ser977Gly)
c.2926A>G (p.Ser976Gly)
c.2737A>G (p.Ser913Gly)
n.877A>G
c.586A>G (p.Ser196Gly)
n.346A>G
c.2838-41A>G (n.2838-41A>G)
n.7146A>G
n.315A>G
n.359A>G
n.901A>G
c.2827A>G (p.Ser943Gly)
c.2740A>G (p.Ser914Gly)
c.1699A>G (p.Ser567Gly)
gnomAD v4
17g.46032208T>GCA399987099KANSL1c.2929A>C (p.Ser977Arg)
c.2926A>C (p.Ser976Arg)
c.2737A>C (p.Ser913Arg)
n.877A>C
c.586A>C (p.Ser196Arg)
n.346A>C
c.2838-41A>C (n.2838-41A>C)
n.7146A>C
n.315A>C
n.359A>C
n.901A>C
c.2827A>C (p.Ser943Arg)
c.2740A>C (p.Ser914Arg)
c.1699A>C (p.Ser567Arg)
17g.46032209A>CCA399987103KANSL1c.2928T>G (p.Ser976Arg)
c.2925T>G (p.Ser975Arg)
c.2736T>G (p.Ser912Arg)
n.876T>G
c.585T>G (p.Ser195Arg)
n.345T>G
c.2838-42T>G (n.2838-42T>G)
n.7145T>G
n.314T>G
n.358T>G
n.900T>G
c.2826T>G (p.Ser942Arg)
c.2739T>G (p.Ser913Arg)
c.1698T>G (p.Ser566Arg)
17g.46032209A>GCA500372023KANSL1c.2928T>C (p.Ser976=)
c.2925T>C (p.Ser975=)
c.2736T>C (p.Ser912=)
n.876T>C
c.585T>C (p.Ser195=)
n.345T>C
c.2838-42T>C (n.2838-42T>C)
n.7145T>C
n.314T>C
n.358T>C
n.900T>C
c.2826T>C (p.Ser942=)
c.2739T>C (p.Ser913=)
c.1698T>C (p.Ser566=)
17g.46032209A>TCA399987104KANSL1c.2928T>A (p.Ser976Arg)
c.2925T>A (p.Ser975Arg)
c.2736T>A (p.Ser912Arg)
n.876T>A
c.585T>A (p.Ser195Arg)
n.345T>A
c.2838-42T>A (n.2838-42T>A)
n.7145T>A
n.314T>A
n.358T>A
n.900T>A
c.2826T>A (p.Ser942Arg)
c.2739T>A (p.Ser913Arg)
c.1698T>A (p.Ser566Arg)
17g.46032210C>ACA8618414KANSL1c.2927G>T (p.Ser976Ile)
c.2924G>T (p.Ser975Ile)
c.2735G>T (p.Ser912Ile)
n.875G>T
c.584G>T (p.Ser195Ile)
n.344G>T
c.2838-43G>T (n.2838-43G>T)
n.7144G>T
n.313G>T
n.357G>T
n.899G>T
c.2825G>T (p.Ser942Ile)
c.2738G>T (p.Ser913Ile)
c.1697G>T (p.Ser566Ile)
dbSNP ExAC gnomAD v2
17g.46032210C=CA2262111045KANSL1c.2927G= (p.Ser976=)
c.2924G= (p.Ser975=)
c.2735G= (p.Ser912=)
n.875G=
c.584G= (p.Ser195=)
n.344G=
c.2838-43G= (n.2838-43G=)
n.7144G=
n.313G=
n.357G=
n.899G=
c.2825G= (p.Ser942=)
c.2738G= (p.Ser913=)
c.1697G= (p.Ser566=)
17g.46032210C>GCA399987106KANSL1c.2927G>C (p.Ser976Thr)
c.2924G>C (p.Ser975Thr)
c.2735G>C (p.Ser912Thr)
n.875G>C
c.584G>C (p.Ser195Thr)
n.344G>C
c.2838-43G>C (n.2838-43G>C)
n.7144G>C
n.313G>C
n.357G>C
n.899G>C
c.2825G>C (p.Ser942Thr)
c.2738G>C (p.Ser913Thr)
c.1697G>C (p.Ser566Thr)
17g.46032210C>TCA399987108KANSL1c.2927G>A (p.Ser976Asn)
c.2924G>A (p.Ser975Asn)
c.2735G>A (p.Ser912Asn)
n.875G>A
c.584G>A (p.Ser195Asn)
n.344G>A
c.2838-43G>A (n.2838-43G>A)
n.7144G>A
n.313G>A
n.357G>A
n.899G>A
c.2825G>A (p.Ser942Asn)
c.2738G>A (p.Ser913Asn)
c.1697G>A (p.Ser566Asn)
gnomAD v4
17g.46032211T>ACA8618415KANSL1c.2926A>T (p.Ser976Cys)
c.2923A>T (p.Ser975Cys)
c.2734A>T (p.Ser912Cys)
n.874A>T
c.583A>T (p.Ser195Cys)
n.343A>T
c.2838-44A>T (n.2838-44A>T)
n.7143A>T
n.312A>T
n.356A>T
n.898A>T
c.2824A>T (p.Ser942Cys)
c.2737A>T (p.Ser913Cys)
c.1696A>T (p.Ser566Cys)
dbSNP ExAC gnomAD v2
17g.46032211T>CCA399987112KANSL1c.2926A>G (p.Ser976Gly)
c.2923A>G (p.Ser975Gly)
c.2734A>G (p.Ser912Gly)
n.874A>G
c.583A>G (p.Ser195Gly)
n.343A>G
c.2838-44A>G (n.2838-44A>G)
n.7143A>G
n.312A>G
n.356A>G
n.898A>G
c.2824A>G (p.Ser942Gly)
c.2737A>G (p.Ser913Gly)
c.1696A>G (p.Ser566Gly)
gnomAD v4
17g.46032211T>GCA399987113KANSL1c.2926A>C (p.Ser976Arg)
c.2923A>C (p.Ser975Arg)
c.2734A>C (p.Ser912Arg)
n.874A>C
c.583A>C (p.Ser195Arg)
n.343A>C
c.2838-44A>C (n.2838-44A>C)
n.7143A>C
n.312A>C
n.356A>C
n.898A>C
c.2824A>C (p.Ser942Arg)
c.2737A>C (p.Ser913Arg)
c.1696A>C (p.Ser566Arg)
17g.46032211T=CA2262111046KANSL1c.2926A= (p.Ser976=)
c.2923A= (p.Ser975=)
c.2734A= (p.Ser912=)
n.874A=
c.583A= (p.Ser195=)
n.343A=
c.2838-44A= (n.2838-44A=)
n.7143A=
n.312A=
n.356A=
n.898A=
c.2824A= (p.Ser942=)
c.2737A= (p.Ser913=)
c.1696A= (p.Ser566=)
17g.46032212G>ACA8618416KANSL1c.2925C>T (p.Ser975=)
c.2922C>T (p.Ser974=)
c.2733C>T (p.Ser911=)
n.873C>T
c.582C>T (p.Ser194=)
n.342C>T
c.2838-45C>T (n.2838-45C>T)
n.7142C>T
n.311C>T
n.355C>T
n.897C>T
c.2823C>T (p.Ser941=)
c.2736C>T (p.Ser912=)
c.1695C>T (p.Ser565=)
dbSNP ExAC gnomAD v2
17g.46032212G>CCA399987116KANSL1c.2925C>G (p.Ser975Arg)
c.2922C>G (p.Ser974Arg)
c.2733C>G (p.Ser911Arg)
n.873C>G
c.582C>G (p.Ser194Arg)
n.342C>G
c.2838-45C>G (n.2838-45C>G)
n.7142C>G
n.311C>G
n.355C>G
n.897C>G
c.2823C>G (p.Ser941Arg)
c.2736C>G (p.Ser912Arg)
c.1695C>G (p.Ser565Arg)
17g.46032212G=CA2262111047KANSL1c.2925C= (p.Ser975=)
c.2922C= (p.Ser974=)
c.2733C= (p.Ser911=)
n.873C=
c.582C= (p.Ser194=)
n.342C=
c.2838-45C= (n.2838-45C=)
n.7142C=
n.311C=
n.355C=
n.897C=
c.2823C= (p.Ser941=)
c.2736C= (p.Ser912=)
c.1695C= (p.Ser565=)
17g.46032212G>TCA399987118KANSL1c.2925C>A (p.Ser975Arg)
c.2922C>A (p.Ser974Arg)
c.2733C>A (p.Ser911Arg)
n.873C>A
c.582C>A (p.Ser194Arg)
n.342C>A
c.2838-45C>A (n.2838-45C>A)
n.7142C>A
n.311C>A
n.355C>A
n.897C>A
c.2823C>A (p.Ser941Arg)
c.2736C>A (p.Ser912Arg)
c.1695C>A (p.Ser565Arg)
17g.46032213C>ACA399987122KANSL1c.2924G>T (p.Ser975Ile)
c.2921G>T (p.Ser974Ile)
c.2732G>T (p.Ser911Ile)
n.872G>T
c.581G>T (p.Ser194Ile)
n.341G>T
c.2838-46G>T (n.2838-46G>T)
n.7141G>T
n.310G>T
n.354G>T
n.896G>T
c.2822G>T (p.Ser941Ile)
c.2735G>T (p.Ser912Ile)
c.1694G>T (p.Ser565Ile)
gnomAD v4
17g.46032213C>GCA399987123KANSL1c.2924G>C (p.Ser975Thr)
c.2921G>C (p.Ser974Thr)
c.2732G>C (p.Ser911Thr)
n.872G>C
c.581G>C (p.Ser194Thr)
n.341G>C
c.2838-46G>C (n.2838-46G>C)
n.7141G>C
n.310G>C
n.354G>C
n.896G>C
c.2822G>C (p.Ser941Thr)
c.2735G>C (p.Ser912Thr)
c.1694G>C (p.Ser565Thr)
17g.46032213C>TCA399987120KANSL1c.2924G>A (p.Ser975Asn)
c.2921G>A (p.Ser974Asn)
c.2732G>A (p.Ser911Asn)
n.872G>A
c.581G>A (p.Ser194Asn)
n.341G>A
c.2838-46G>A (n.2838-46G>A)
n.7141G>A
n.310G>A
n.354G>A
n.896G>A
c.2822G>A (p.Ser941Asn)
c.2735G>A (p.Ser912Asn)
c.1694G>A (p.Ser565Asn)
17g.46032214T>ACA399987125KANSL1c.2923A>T (p.Ser975Cys)
c.2920A>T (p.Ser974Cys)
c.2731A>T (p.Ser911Cys)
n.871A>T
c.580A>T (p.Ser194Cys)
n.340A>T
c.2838-47A>T (n.2838-47A>T)
n.7140A>T
n.309A>T
n.353A>T
n.895A>T
c.2821A>T (p.Ser941Cys)
c.2734A>T (p.Ser912Cys)
c.1693A>T (p.Ser565Cys)
17g.46032214T>CCA399987127KANSL1c.2923A>G (p.Ser975Gly)
c.2920A>G (p.Ser974Gly)
c.2731A>G (p.Ser911Gly)
n.871A>G
c.580A>G (p.Ser194Gly)
n.340A>G
c.2838-47A>G (n.2838-47A>G)
n.7140A>G
n.309A>G
n.353A>G
n.895A>G
c.2821A>G (p.Ser941Gly)
c.2734A>G (p.Ser912Gly)
c.1693A>G (p.Ser565Gly)
17g.46032214T>GCA399987129KANSL1c.2923A>C (p.Ser975Arg)
c.2920A>C (p.Ser974Arg)
c.2731A>C (p.Ser911Arg)
n.871A>C
c.580A>C (p.Ser194Arg)
n.340A>C
c.2838-47A>C (n.2838-47A>C)
n.7140A>C
n.309A>C
n.353A>C
n.895A>C
c.2821A>C (p.Ser941Arg)
c.2734A>C (p.Ser912Arg)
c.1693A>C (p.Ser565Arg)
17g.46032215G>ACA500372025KANSL1c.2922C>T (p.Val974=)
c.2919C>T (p.Val973=)
c.2730C>T (p.Val910=)
n.870C>T
c.579C>T (p.Val193=)
n.339C>T
c.2838-48C>T (n.2838-48C>T)
n.7139C>T
n.308C>T
n.352C>T
n.894C>T
c.2820C>T (p.Val940=)
c.2733C>T (p.Val911=)
c.1692C>T (p.Val564=)
17g.46032215G>CCA500372026KANSL1c.2922C>G (p.Val974=)
c.2919C>G (p.Val973=)
c.2730C>G (p.Val910=)
n.870C>G
c.579C>G (p.Val193=)
n.339C>G
c.2838-48C>G (n.2838-48C>G)
n.7139C>G
n.308C>G
n.352C>G
n.894C>G
c.2820C>G (p.Val940=)
c.2733C>G (p.Val911=)
c.1692C>G (p.Val564=)
17g.46032215G>TCA500372024KANSL1c.2922C>A (p.Val974=)
c.2919C>A (p.Val973=)
c.2730C>A (p.Val910=)
n.870C>A
c.579C>A (p.Val193=)
n.339C>A
c.2838-48C>A (n.2838-48C>A)
n.7139C>A
n.308C>A
n.352C>A
n.894C>A
c.2820C>A (p.Val940=)
c.2733C>A (p.Val911=)
c.1692C>A (p.Val564=)
17g.46032216A>CCA399987131KANSL1c.2921T>G (p.Val974Gly)
c.2918T>G (p.Val973Gly)
c.2729T>G (p.Val910Gly)
n.869T>G
c.578T>G (p.Val193Gly)
n.338T>G
c.2838-49T>G (n.2838-49T>G)
n.7138T>G
n.307T>G
n.351T>G
n.893T>G
c.2819T>G (p.Val940Gly)
c.2732T>G (p.Val911Gly)
c.1691T>G (p.Val564Gly)
17g.46032216A>GCA399987133KANSL1c.2921T>C (p.Val974Ala)
c.2918T>C (p.Val973Ala)
c.2729T>C (p.Val910Ala)
n.869T>C
c.578T>C (p.Val193Ala)
n.338T>C
c.2838-49T>C (n.2838-49T>C)
n.7138T>C
n.307T>C
n.351T>C
n.893T>C
c.2819T>C (p.Val940Ala)
c.2732T>C (p.Val911Ala)
c.1691T>C (p.Val564Ala)
17g.46032216A>TCA399987135KANSL1c.2921T>A (p.Val974Asp)
c.2918T>A (p.Val973Asp)
c.2729T>A (p.Val910Asp)
n.869T>A
c.578T>A (p.Val193Asp)
n.338T>A
c.2838-49T>A (n.2838-49T>A)
n.7138T>A
n.307T>A
n.351T>A
n.893T>A
c.2819T>A (p.Val940Asp)
c.2732T>A (p.Val911Asp)
c.1691T>A (p.Val564Asp)
17g.46032217C>ACA399987137KANSL1c.2920G>T (p.Val974Phe)
c.2917G>T (p.Val973Phe)
c.2728G>T (p.Val910Phe)
n.868G>T
c.577G>T (p.Val193Phe)
n.337G>T
c.2838-50G>T (n.2838-50G>T)
n.7137G>T
n.306G>T
n.350G>T
n.892G>T
c.2818G>T (p.Val940Phe)
c.2731G>T (p.Val911Phe)
c.1690G>T (p.Val564Phe)
17g.46032217C>GCA399987138KANSL1c.2920G>C (p.Val974Leu)
c.2917G>C (p.Val973Leu)
c.2728G>C (p.Val910Leu)
n.868G>C
c.577G>C (p.Val193Leu)
n.337G>C
c.2838-50G>C (n.2838-50G>C)
n.7137G>C
n.306G>C
n.350G>C
n.892G>C
c.2818G>C (p.Val940Leu)
c.2731G>C (p.Val911Leu)
c.1690G>C (p.Val564Leu)
17g.46032217C>TCA399987139KANSL1c.2920G>A (p.Val974Ile)
c.2917G>A (p.Val973Ile)
c.2728G>A (p.Val910Ile)
n.868G>A
c.577G>A (p.Val193Ile)
n.337G>A
c.2838-50G>A (n.2838-50G>A)
n.7137G>A
n.306G>A
n.350G>A
n.892G>A
c.2818G>A (p.Val940Ile)
c.2731G>A (p.Val911Ile)
c.1690G>A (p.Val564Ile)
17g.46032218A=CA2262111048KANSL1c.2919T= (p.Asp973=)
c.2916T= (p.Asp972=)
c.2727T= (p.Asp909=)
n.867T=
c.576T= (p.Asp192=)
n.336T=
c.2838-51T= (n.2838-51T=)
n.7136T=
n.305T=
n.349T=
n.891T=
c.2817T= (p.Asp939=)
c.2730T= (p.Asp910=)
c.1689T= (p.Asp563=)
17g.46032218A>CCA8618417KANSL1c.2919T>G (p.Asp973Glu)
c.2916T>G (p.Asp972Glu)
c.2727T>G (p.Asp909Glu)
n.867T>G
c.576T>G (p.Asp192Glu)
n.336T>G
c.2838-51T>G (n.2838-51T>G)
n.7136T>G
n.305T>G
n.349T>G
n.891T>G
c.2817T>G (p.Asp939Glu)
c.2730T>G (p.Asp910Glu)
c.1689T>G (p.Asp563Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032218A>GCA500372028KANSL1c.2919T>C (p.Asp973=)
c.2916T>C (p.Asp972=)
c.2727T>C (p.Asp909=)
n.867T>C
c.576T>C (p.Asp192=)
n.336T>C
c.2838-51T>C (n.2838-51T>C)
n.7136T>C
n.305T>C
n.349T>C
n.891T>C
c.2817T>C (p.Asp939=)
c.2730T>C (p.Asp910=)
c.1689T>C (p.Asp563=)
ClinVar
17g.46032218A>TCA399987142KANSL1c.2919T>A (p.Asp973Glu)
c.2916T>A (p.Asp972Glu)
c.2727T>A (p.Asp909Glu)
n.867T>A
c.576T>A (p.Asp192Glu)
n.336T>A
c.2838-51T>A (n.2838-51T>A)
n.7136T>A
n.305T>A
n.349T>A
n.891T>A
c.2817T>A (p.Asp939Glu)
c.2730T>A (p.Asp910Glu)
c.1689T>A (p.Asp563Glu)
17g.46032219T>ACA399987146KANSL1c.2918A>T (p.Asp973Val)
c.2915A>T (p.Asp972Val)
c.2726A>T (p.Asp909Val)
n.866A>T
c.575A>T (p.Asp192Val)
n.335A>T
c.2838-52A>T (n.2838-52A>T)
n.7135A>T
n.304A>T
n.348A>T
n.890A>T
c.2816A>T (p.Asp939Val)
c.2729A>T (p.Asp910Val)
c.1688A>T (p.Asp563Val)
17g.46032219T>CCA399987152KANSL1c.2918A>G (p.Asp973Gly)
c.2915A>G (p.Asp972Gly)
c.2726A>G (p.Asp909Gly)
n.866A>G
c.575A>G (p.Asp192Gly)
n.335A>G
c.2838-52A>G (n.2838-52A>G)
n.7135A>G
n.304A>G
n.348A>G
n.890A>G
c.2816A>G (p.Asp939Gly)
c.2729A>G (p.Asp910Gly)
c.1688A>G (p.Asp563Gly)
17g.46032219T>GCA399987144KANSL1c.2918A>C (p.Asp973Ala)
c.2915A>C (p.Asp972Ala)
c.2726A>C (p.Asp909Ala)
n.866A>C
c.575A>C (p.Asp192Ala)
n.335A>C
c.2838-52A>C (n.2838-52A>C)
n.7135A>C
n.304A>C
n.348A>C
n.890A>C
c.2816A>C (p.Asp939Ala)
c.2729A>C (p.Asp910Ala)
c.1688A>C (p.Asp563Ala)
17g.46032220C>ACA399987154KANSL1c.2917G>T (p.Asp973Tyr)
c.2914G>T (p.Asp972Tyr)
c.2725G>T (p.Asp909Tyr)
n.745G>T
n.865G>T
c.574G>T (p.Asp192Tyr)
n.334G>T
c.2838-53G>T (n.2838-53G>T)
n.7134G>T
n.303G>T
n.347G>T
n.889G>T
c.2815G>T (p.Asp939Tyr)
c.2728G>T (p.Asp910Tyr)
c.1687G>T (p.Asp563Tyr)
gnomAD v4
17g.46032220C>GCA399987156KANSL1c.2917G>C (p.Asp973His)
c.2914G>C (p.Asp972His)
c.2725G>C (p.Asp909His)
n.745G>C
n.865G>C
c.574G>C (p.Asp192His)
n.334G>C
c.2838-53G>C (n.2838-53G>C)
n.7134G>C
n.303G>C
n.347G>C
n.889G>C
c.2815G>C (p.Asp939His)
c.2728G>C (p.Asp910His)
c.1687G>C (p.Asp563His)
17g.46032220C>TCA399987157KANSL1c.2917G>A (p.Asp973Asn)
c.2914G>A (p.Asp972Asn)
c.2725G>A (p.Asp909Asn)
n.745G>A
n.865G>A
c.574G>A (p.Asp192Asn)
n.334G>A
c.2838-53G>A (n.2838-53G>A)
n.7134G>A
n.303G>A
n.347G>A
n.889G>A
c.2815G>A (p.Asp939Asn)
c.2728G>A (p.Asp910Asn)
c.1687G>A (p.Asp563Asn)
17g.46032221A>CCA500372030KANSL1c.2916T>G (p.Pro972=)
c.2913T>G (p.Pro971=)
c.2724T>G (p.Pro908=)
n.744T>G
n.864T>G
c.573T>G (p.Pro191=)
n.333T>G
c.2838-54T>G (n.2838-54T>G)
n.7133T>G
n.302T>G
n.346T>G
n.888T>G
c.2814T>G (p.Pro938=)
c.2727T>G (p.Pro909=)
c.1686T>G (p.Pro562=)
17g.46032221A>GCA500372029KANSL1c.2916T>C (p.Pro972=)
c.2913T>C (p.Pro971=)
c.2724T>C (p.Pro908=)
n.744T>C
n.864T>C
c.573T>C (p.Pro191=)
n.333T>C
c.2838-54T>C (n.2838-54T>C)
n.7133T>C
n.302T>C
n.346T>C
n.888T>C
c.2814T>C (p.Pro938=)
c.2727T>C (p.Pro909=)
c.1686T>C (p.Pro562=)
ClinVar
17g.46032221A>TCA500372031KANSL1c.2916T>A (p.Pro972=)
c.2913T>A (p.Pro971=)
c.2724T>A (p.Pro908=)
n.744T>A
n.864T>A
c.573T>A (p.Pro191=)
n.333T>A
c.2838-54T>A (n.2838-54T>A)
n.7133T>A
n.302T>A
n.346T>A
n.888T>A
c.2814T>A (p.Pro938=)
c.2727T>A (p.Pro909=)
c.1686T>A (p.Pro562=)
17g.46032222G>ACA399987159KANSL1c.2915C>T (p.Pro972Leu)
c.2912C>T (p.Pro971Leu)
c.2723C>T (p.Pro908Leu)
n.743C>T
n.863C>T
c.572C>T (p.Pro191Leu)
n.332C>T
c.2838-55C>T (n.2838-55C>T)
n.7132C>T
n.301C>T
n.345C>T
n.887C>T
c.2813C>T (p.Pro938Leu)
c.2726C>T (p.Pro909Leu)
c.1685C>T (p.Pro562Leu)
gnomAD v4
17g.46032222G>CCA399987161KANSL1c.2915C>G (p.Pro972Arg)
c.2912C>G (p.Pro971Arg)
c.2723C>G (p.Pro908Arg)
n.743C>G
n.863C>G
c.572C>G (p.Pro191Arg)
n.332C>G
c.2838-55C>G (n.2838-55C>G)
n.7132C>G
n.301C>G
n.345C>G
n.887C>G
c.2813C>G (p.Pro938Arg)
c.2726C>G (p.Pro909Arg)
c.1685C>G (p.Pro562Arg)
17g.46032222G>TCA399987162KANSL1c.2915C>A (p.Pro972His)
c.2912C>A (p.Pro971His)
c.2723C>A (p.Pro908His)
n.743C>A
n.863C>A
c.572C>A (p.Pro191His)
n.332C>A
c.2838-55C>A (n.2838-55C>A)
n.7132C>A
n.301C>A
n.345C>A
n.887C>A
c.2813C>A (p.Pro938His)
c.2726C>A (p.Pro909His)
c.1685C>A (p.Pro562His)
17g.46032223G>ACA399987166KANSL1c.2914C>T (p.Pro972Ser)
c.2911C>T (p.Pro971Ser)
c.2722C>T (p.Pro908Ser)
n.742C>T
n.862C>T
c.571C>T (p.Pro191Ser)
n.331C>T
c.2838-56C>T (n.2838-56C>T)
n.7131C>T
n.300C>T
n.344C>T
n.886C>T
c.2812C>T (p.Pro938Ser)
c.2725C>T (p.Pro909Ser)
c.1684C>T (p.Pro562Ser)
17g.46032223G>CCA399987169KANSL1c.2914C>G (p.Pro972Ala)
c.2911C>G (p.Pro971Ala)
c.2722C>G (p.Pro908Ala)
n.742C>G
n.862C>G
c.571C>G (p.Pro191Ala)
n.331C>G
c.2838-56C>G (n.2838-56C>G)
n.7131C>G
n.300C>G
n.344C>G
n.886C>G
c.2812C>G (p.Pro938Ala)
c.2725C>G (p.Pro909Ala)
c.1684C>G (p.Pro562Ala)
17g.46032223G>TCA399987167KANSL1c.2914C>A (p.Pro972Thr)
c.2911C>A (p.Pro971Thr)
c.2722C>A (p.Pro908Thr)
n.742C>A
n.862C>A
c.571C>A (p.Pro191Thr)
n.331C>A
c.2838-56C>A (n.2838-56C>A)
n.7131C>A
n.300C>A
n.344C>A
n.886C>A
c.2812C>A (p.Pro938Thr)
c.2725C>A (p.Pro909Thr)
c.1684C>A (p.Pro562Thr)
17g.46032224G>ACA500372032KANSL1c.2913C>T (p.Ser971=)
c.2910C>T (p.Ser970=)
c.2721C>T (p.Ser907=)
n.741C>T
n.861C>T
c.570C>T (p.Ser190=)
n.330C>T
c.2838-57C>T (n.2838-57C>T)
n.7130C>T
n.299C>T
n.343C>T
n.885C>T
c.2811C>T (p.Ser937=)
c.2724C>T (p.Ser908=)
c.1683C>T (p.Ser561=)
dbSNP gnomAD v2
17g.46032224G>CCA500372033KANSL1c.2913C>G (p.Ser971=)
c.2910C>G (p.Ser970=)
c.2721C>G (p.Ser907=)
n.741C>G
n.861C>G
c.570C>G (p.Ser190=)
n.330C>G
c.2838-57C>G (n.2838-57C>G)
n.7130C>G
n.299C>G
n.343C>G
n.885C>G
c.2811C>G (p.Ser937=)
c.2724C>G (p.Ser908=)
c.1683C>G (p.Ser561=)
17g.46032224G=CA2262111049KANSL1c.2913C= (p.Ser971=)
c.2910C= (p.Ser970=)
c.2721C= (p.Ser907=)
n.741C=
n.861C=
c.570C= (p.Ser190=)
n.330C=
c.2838-57C= (n.2838-57C=)
n.7130C=
n.299C=
n.343C=
n.885C=
c.2811C= (p.Ser937=)
c.2724C= (p.Ser908=)
c.1683C= (p.Ser561=)
17g.46032224G>TCA8618418KANSL1c.2913C>A (p.Ser971=)
c.2910C>A (p.Ser970=)
c.2721C>A (p.Ser907=)
n.741C>A
n.861C>A
c.570C>A (p.Ser190=)
n.330C>A
c.2838-57C>A (n.2838-57C>A)
n.7130C>A
n.299C>A
n.343C>A
n.885C>A
c.2811C>A (p.Ser937=)
c.2724C>A (p.Ser908=)
c.1683C>A (p.Ser561=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032225G>ACA399987171KANSL1c.2912C>T (p.Ser971Phe)
c.2909C>T (p.Ser970Phe)
c.2720C>T (p.Ser907Phe)
n.740C>T
n.860C>T
c.569C>T (p.Ser190Phe)
n.329C>T
c.2838-58C>T (n.2838-58C>T)
n.7129C>T
n.298C>T
n.342C>T
n.884C>T
c.2810C>T (p.Ser937Phe)
c.2723C>T (p.Ser908Phe)
c.1682C>T (p.Ser561Phe)
dbSNP
17g.46032225G>CCA399987172KANSL1c.2912C>G (p.Ser971Cys)
c.2909C>G (p.Ser970Cys)
c.2720C>G (p.Ser907Cys)
n.740C>G
n.860C>G
c.569C>G (p.Ser190Cys)
n.329C>G
c.2838-58C>G (n.2838-58C>G)
n.7129C>G
n.298C>G
n.342C>G
n.884C>G
c.2810C>G (p.Ser937Cys)
c.2723C>G (p.Ser908Cys)
c.1682C>G (p.Ser561Cys)
17g.46032225G=CA2262111050KANSL1c.2912C= (p.Ser971=)
c.2909C= (p.Ser970=)
c.2720C= (p.Ser907=)
n.740C=
n.860C=
c.569C= (p.Ser190=)
n.329C=
c.2838-58C= (n.2838-58C=)
n.7129C=
n.298C=
n.342C=
n.884C=
c.2810C= (p.Ser937=)
c.2723C= (p.Ser908=)
c.1682C= (p.Ser561=)
17g.46032225G>TCA399987173KANSL1c.2912C>A (p.Ser971Tyr)
c.2909C>A (p.Ser970Tyr)
c.2720C>A (p.Ser907Tyr)
n.740C>A
n.860C>A
c.569C>A (p.Ser190Tyr)
n.329C>A
c.2838-58C>A (n.2838-58C>A)
n.7129C>A
n.298C>A
n.342C>A
n.884C>A
c.2810C>A (p.Ser937Tyr)
c.2723C>A (p.Ser908Tyr)
c.1682C>A (p.Ser561Tyr)
gnomAD v4
17g.46032226A=CA2262111051KANSL1c.2911T= (p.Ser971=)
c.2908T= (p.Ser970=)
c.2719T= (p.Ser907=)
n.739T=
n.859T=
c.568T= (p.Ser190=)
n.328T=
c.2838-59T= (n.2838-59T=)
n.7128T=
n.297T=
n.341T=
n.883T=
c.2809T= (p.Ser937=)
c.2722T= (p.Ser908=)
c.1681T= (p.Ser561=)
17g.46032226A>CCA399987178KANSL1c.2911T>G (p.Ser971Ala)
c.2908T>G (p.Ser970Ala)
c.2719T>G (p.Ser907Ala)
n.739T>G
n.859T>G
c.568T>G (p.Ser190Ala)
n.328T>G
c.2838-59T>G (n.2838-59T>G)
n.7128T>G
n.297T>G
n.341T>G
n.883T>G
c.2809T>G (p.Ser937Ala)
c.2722T>G (p.Ser908Ala)
c.1681T>G (p.Ser561Ala)
17g.46032226A>GCA399987177KANSL1c.2911T>C (p.Ser971Pro)
c.2908T>C (p.Ser970Pro)
c.2719T>C (p.Ser907Pro)
n.739T>C
n.859T>C
c.568T>C (p.Ser190Pro)
n.328T>C
c.2838-59T>C (n.2838-59T>C)
n.7128T>C
n.297T>C
n.341T>C
n.883T>C
c.2809T>C (p.Ser937Pro)
c.2722T>C (p.Ser908Pro)
c.1681T>C (p.Ser561Pro)
17g.46032226A>TCA399987175KANSL1c.2911T>A (p.Ser971Thr)
c.2908T>A (p.Ser970Thr)
c.2719T>A (p.Ser907Thr)
n.739T>A
n.859T>A
c.568T>A (p.Ser190Thr)
n.328T>A
c.2838-59T>A (n.2838-59T>A)
n.7128T>A
n.297T>A
n.341T>A
n.883T>A
c.2809T>A (p.Ser937Thr)
c.2722T>A (p.Ser908Thr)
c.1681T>A (p.Ser561Thr)
dbSNP gnomAD v2 gnomAD v4
17g.46032227G>ACA500372034KANSL1c.2910C>T (p.Ala970=)
c.2907C>T (p.Ala969=)
c.2718C>T (p.Ala906=)
n.738C>T
n.858C>T
c.567C>T (p.Ala189=)
n.327C>T
c.2838-60C>T (n.2838-60C>T)
n.7127C>T
n.296C>T
n.340C>T
n.882C>T
c.2808C>T (p.Ala936=)
c.2721C>T (p.Ala907=)
c.1680C>T (p.Ala560=)
gnomAD v4
17g.46032227G>CCA8618419KANSL1c.2910C>G (p.Ala970=)
c.2907C>G (p.Ala969=)
c.2718C>G (p.Ala906=)
n.738C>G
n.858C>G
c.567C>G (p.Ala189=)
n.327C>G
c.2838-60C>G (n.2838-60C>G)
n.7127C>G
n.296C>G
n.340C>G
n.882C>G
c.2808C>G (p.Ala936=)
c.2721C>G (p.Ala907=)
c.1680C>G (p.Ala560=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032227G=CA2262111052KANSL1c.2910C= (p.Ala970=)
c.2907C= (p.Ala969=)
c.2718C= (p.Ala906=)
n.738C=
n.858C=
c.567C= (p.Ala189=)
n.327C=
c.2838-60C= (n.2838-60C=)
n.7127C=
n.296C=
n.340C=
n.882C=
c.2808C= (p.Ala936=)
c.2721C= (p.Ala907=)
c.1680C= (p.Ala560=)
17g.46032227G>TCA500372035KANSL1c.2910C>A (p.Ala970=)
c.2907C>A (p.Ala969=)
c.2718C>A (p.Ala906=)
n.738C>A
n.858C>A
c.567C>A (p.Ala189=)
n.327C>A
c.2838-60C>A (n.2838-60C>A)
n.7127C>A
n.296C>A
n.340C>A
n.882C>A
c.2808C>A (p.Ala936=)
c.2721C>A (p.Ala907=)
c.1680C>A (p.Ala560=)
17g.46032228G>ACA399987183KANSL1c.2909C>T (p.Ala970Val)
c.2906C>T (p.Ala969Val)
c.2717C>T (p.Ala906Val)
n.737C>T
n.857C>T
c.566C>T (p.Ala189Val)
n.326C>T
c.2838-61C>T (n.2838-61C>T)
n.7126C>T
n.295C>T
n.339C>T
n.881C>T
c.2807C>T (p.Ala936Val)
c.2720C>T (p.Ala907Val)
c.1679C>T (p.Ala560Val)
gnomAD v4
17g.46032228G>CCA399987180KANSL1c.2909C>G (p.Ala970Gly)
c.2906C>G (p.Ala969Gly)
c.2717C>G (p.Ala906Gly)
n.737C>G
n.857C>G
c.566C>G (p.Ala189Gly)
n.326C>G
c.2838-61C>G (n.2838-61C>G)
n.7126C>G
n.295C>G
n.339C>G
n.881C>G
c.2807C>G (p.Ala936Gly)
c.2720C>G (p.Ala907Gly)
c.1679C>G (p.Ala560Gly)
17g.46032228G>TCA399987181KANSL1c.2909C>A (p.Ala970Asp)
c.2906C>A (p.Ala969Asp)
c.2717C>A (p.Ala906Asp)
n.737C>A
n.857C>A
c.566C>A (p.Ala189Asp)
n.326C>A
c.2838-61C>A (n.2838-61C>A)
n.7126C>A
n.295C>A
n.339C>A
n.881C>A
c.2807C>A (p.Ala936Asp)
c.2720C>A (p.Ala907Asp)
c.1679C>A (p.Ala560Asp)
gnomAD v4
17g.46032229C>ACA399987186KANSL1c.2908G>T (p.Ala970Ser)
c.2905G>T (p.Ala969Ser)
c.2716G>T (p.Ala906Ser)
n.736G>T
n.856G>T
c.565G>T (p.Ala189Ser)
n.325G>T
c.2838-62G>T (n.2838-62G>T)
n.7125G>T
n.294G>T
n.338G>T
n.880G>T
c.2806G>T (p.Ala936Ser)
c.2719G>T (p.Ala907Ser)
c.1678G>T (p.Ala560Ser)
gnomAD v4
17g.46032229C=CA2262111053KANSL1c.2908G= (p.Ala970=)
c.2905G= (p.Ala969=)
c.2716G= (p.Ala906=)
n.736G=
n.856G=
c.565G= (p.Ala189=)
n.325G=
c.2838-62G= (n.2838-62G=)
n.7125G=
n.294G=
n.338G=
n.880G=
c.2806G= (p.Ala936=)
c.2719G= (p.Ala907=)
c.1678G= (p.Ala560=)
17g.46032229C>GCA399987188KANSL1c.2908G>C (p.Ala970Pro)
c.2905G>C (p.Ala969Pro)
c.2716G>C (p.Ala906Pro)
n.736G>C
n.856G>C
c.565G>C (p.Ala189Pro)
n.325G>C
c.2838-62G>C (n.2838-62G>C)
n.7125G>C
n.294G>C
n.338G>C
n.880G>C
c.2806G>C (p.Ala936Pro)
c.2719G>C (p.Ala907Pro)
c.1678G>C (p.Ala560Pro)
17g.46032229C>TCA291125965KANSL1c.2908G>A (p.Ala970Thr)
c.2905G>A (p.Ala969Thr)
c.2716G>A (p.Ala906Thr)
n.736G>A
n.856G>A
c.565G>A (p.Ala189Thr)
n.325G>A
c.2838-62G>A (n.2838-62G>A)
n.7125G>A
n.294G>A
n.338G>A
n.880G>A
c.2806G>A (p.Ala936Thr)
c.2719G>A (p.Ala907Thr)
c.1678G>A (p.Ala560Thr)
dbSNP gnomAD v4
17g.46032230A>CCA500372036KANSL1c.2907T>G (p.Pro969=)
c.2904T>G (p.Pro968=)
c.2715T>G (p.Pro905=)
n.735T>G
n.855T>G
c.564T>G (p.Pro188=)
n.324T>G
c.2838-63T>G (n.2838-63T>G)
n.7124T>G
n.293T>G
n.337T>G
n.879T>G
c.2805T>G (p.Pro935=)
c.2718T>G (p.Pro906=)
c.1677T>G (p.Pro559=)
17g.46032230A>GCA500372037KANSL1c.2907T>C (p.Pro969=)
c.2904T>C (p.Pro968=)
c.2715T>C (p.Pro905=)
n.735T>C
n.855T>C
c.564T>C (p.Pro188=)
n.324T>C
c.2838-63T>C (n.2838-63T>C)
n.7124T>C
n.293T>C
n.337T>C
n.879T>C
c.2805T>C (p.Pro935=)
c.2718T>C (p.Pro906=)
c.1677T>C (p.Pro559=)
COSMIC
17g.46032230A>TCA500372038KANSL1c.2907T>A (p.Pro969=)
c.2904T>A (p.Pro968=)
c.2715T>A (p.Pro905=)
n.735T>A
n.855T>A
c.564T>A (p.Pro188=)
n.324T>A
c.2838-63T>A (n.2838-63T>A)
n.7124T>A
n.293T>A
n.337T>A
n.879T>A
c.2805T>A (p.Pro935=)
c.2718T>A (p.Pro906=)
c.1677T>A (p.Pro559=)
17g.46032231G>ACA399987191KANSL1c.2906C>T (p.Pro969Leu)
c.2903C>T (p.Pro968Leu)
c.2714C>T (p.Pro905Leu)
n.734C>T
n.854C>T
c.563C>T (p.Pro188Leu)
n.323C>T
c.2838-64C>T (n.2838-64C>T)
n.7123C>T
n.292C>T
n.336C>T
n.878C>T
c.2804C>T (p.Pro935Leu)
c.2717C>T (p.Pro906Leu)
c.1676C>T (p.Pro559Leu)
dbSNP gnomAD v3 gnomAD v4
17g.46032231G>CCA399987192KANSL1c.2906C>G (p.Pro969Arg)
c.2903C>G (p.Pro968Arg)
c.2714C>G (p.Pro905Arg)
n.734C>G
n.854C>G
c.563C>G (p.Pro188Arg)
n.323C>G
c.2838-64C>G (n.2838-64C>G)
n.7123C>G
n.292C>G
n.336C>G
n.878C>G
c.2804C>G (p.Pro935Arg)
c.2717C>G (p.Pro906Arg)
c.1676C>G (p.Pro559Arg)
ClinVar dbSNP gnomAD v4
17g.46032231G=CA2262111054KANSL1c.2906C= (p.Pro969=)
c.2903C= (p.Pro968=)
c.2714C= (p.Pro905=)
n.734C=
n.854C=
c.563C= (p.Pro188=)
n.323C=
c.2838-64C= (n.2838-64C=)
n.7123C=
n.292C=
n.336C=
n.878C=
c.2804C= (p.Pro935=)
c.2717C= (p.Pro906=)
c.1676C= (p.Pro559=)
17g.46032231G>TCA399987194KANSL1c.2906C>A (p.Pro969His)
c.2903C>A (p.Pro968His)
c.2714C>A (p.Pro905His)
n.734C>A
n.854C>A
c.563C>A (p.Pro188His)
n.323C>A
c.2838-64C>A (n.2838-64C>A)
n.7123C>A
n.292C>A
n.336C>A
n.878C>A
c.2804C>A (p.Pro935His)
c.2717C>A (p.Pro906His)
c.1676C>A (p.Pro559His)
17g.46032232G>ACA399987196KANSL1c.2905C>T (p.Pro969Ser)
c.2902C>T (p.Pro968Ser)
c.2713C>T (p.Pro905Ser)
n.733C>T
n.853C>T
c.562C>T (p.Pro188Ser)
n.322C>T
c.2838-65C>T (n.2838-65C>T)
n.7122C>T
n.291C>T
n.335C>T
n.877C>T
c.2803C>T (p.Pro935Ser)
c.2716C>T (p.Pro906Ser)
c.1675C>T (p.Pro559Ser)
gnomAD v4
17g.46032232G>CCA399987197KANSL1c.2905C>G (p.Pro969Ala)
c.2902C>G (p.Pro968Ala)
c.2713C>G (p.Pro905Ala)
n.733C>G
n.853C>G
c.562C>G (p.Pro188Ala)
n.322C>G
c.2838-65C>G (n.2838-65C>G)
n.7122C>G
n.291C>G
n.335C>G
n.877C>G
c.2803C>G (p.Pro935Ala)
c.2716C>G (p.Pro906Ala)
c.1675C>G (p.Pro559Ala)
17g.46032232G>TCA399987198KANSL1c.2905C>A (p.Pro969Thr)
c.2902C>A (p.Pro968Thr)
c.2713C>A (p.Pro905Thr)
n.733C>A
n.853C>A
c.562C>A (p.Pro188Thr)
n.322C>A
c.2838-65C>A (n.2838-65C>A)
n.7122C>A
n.291C>A
n.335C>A
n.877C>A
c.2803C>A (p.Pro935Thr)
c.2716C>A (p.Pro906Thr)
c.1675C>A (p.Pro559Thr)
17g.46032242_46032271delCA2638372368KANSL1c.2876_2905del (p.Leu959_Gln968del)
c.2873_2902del (p.Leu958_Gln967del)
c.2684_2713del (p.Leu895_Gln904del)
n.704_733del
n.824_853del
c.533_562del (p.Leu178_Gln187del)
n.293_322del
c.2838-94_2838-65del (n.2838-94_2838-65del)
n.7093_7122del
n.262_291del
n.306_335del
n.848_877del
c.2774_2803del (p.Leu925_Gln934del)
c.2687_2716del (p.Leu896_Gln905del)
c.1646_1675del (p.Leu549_Gln558del)
gnomAD v4
17g.46032233C>ACA399987200KANSL1c.2904G>T (p.Gln968His)
c.2901G>T (p.Gln967His)
c.2712G>T (p.Gln904His)
n.732G>T
n.852G>T
c.561G>T (p.Gln187His)
n.321G>T
c.2838-66G>T (n.2838-66G>T)
n.7121G>T
n.290G>T
n.334G>T
n.876G>T
c.2802G>T (p.Gln934His)
c.2715G>T (p.Gln905His)
c.1674G>T (p.Gln558His)
dbSNP
17g.46032233C=CA2262111055KANSL1c.2904G= (p.Gln968=)
c.2901G= (p.Gln967=)
c.2712G= (p.Gln904=)
n.732G=
n.852G=
c.561G= (p.Gln187=)
n.321G=
c.2838-66G= (n.2838-66G=)
n.7121G=
n.290G=
n.334G=
n.876G=
c.2802G= (p.Gln934=)
c.2715G= (p.Gln905=)
c.1674G= (p.Gln558=)
17g.46032233C>GCA399987202KANSL1c.2904G>C (p.Gln968His)
c.2901G>C (p.Gln967His)
c.2712G>C (p.Gln904His)
n.732G>C
n.852G>C
c.561G>C (p.Gln187His)
n.321G>C
c.2838-66G>C (n.2838-66G>C)
n.7121G>C
n.290G>C
n.334G>C
n.876G>C
c.2802G>C (p.Gln934His)
c.2715G>C (p.Gln905His)
c.1674G>C (p.Gln558His)
17g.46032233C>TCA500372039KANSL1c.2904G>A (p.Gln968=)
c.2901G>A (p.Gln967=)
c.2712G>A (p.Gln904=)
n.732G>A
n.852G>A
c.561G>A (p.Gln187=)
n.321G>A
c.2838-66G>A (n.2838-66G>A)
n.7121G>A
n.290G>A
n.334G>A
n.876G>A
c.2802G>A (p.Gln934=)
c.2715G>A (p.Gln905=)
c.1674G>A (p.Gln558=)
17g.46032234T>ACA399987207KANSL1c.2903A>T (p.Gln968Leu)
c.2900A>T (p.Gln967Leu)
c.2711A>T (p.Gln904Leu)
n.731A>T
n.851A>T
c.560A>T (p.Gln187Leu)
n.320A>T
c.2838-67A>T (n.2838-67A>T)
n.7120A>T
n.289A>T
n.333A>T
n.875A>T
c.2801A>T (p.Gln934Leu)
c.2714A>T (p.Gln905Leu)
c.1673A>T (p.Gln558Leu)
17g.46032234T>CCA399987206KANSL1c.2903A>G (p.Gln968Arg)
c.2900A>G (p.Gln967Arg)
c.2711A>G (p.Gln904Arg)
n.731A>G
n.851A>G
c.560A>G (p.Gln187Arg)
n.320A>G
c.2838-67A>G (n.2838-67A>G)
n.7120A>G
n.289A>G
n.333A>G
n.875A>G
c.2801A>G (p.Gln934Arg)
c.2714A>G (p.Gln905Arg)
c.1673A>G (p.Gln558Arg)
17g.46032234T>GCA399987204KANSL1c.2903A>C (p.Gln968Pro)
c.2900A>C (p.Gln967Pro)
c.2711A>C (p.Gln904Pro)
n.731A>C
n.851A>C
c.560A>C (p.Gln187Pro)
n.320A>C
c.2838-67A>C (n.2838-67A>C)
n.7120A>C
n.289A>C
n.333A>C
n.875A>C
c.2801A>C (p.Gln934Pro)
c.2714A>C (p.Gln905Pro)
c.1673A>C (p.Gln558Pro)
17g.46032234_46032235delinsTGCA2262111056KANSL1c.2902_2903delinsCA (p.Gln968=)
c.2899_2900delinsCA (p.Gln967=)
c.2710_2711delinsCA (p.Gln904=)
n.730_731delinsCA
n.850_851delinsCA
c.559_560delinsCA (p.Gln187=)
n.319_320delinsCA
c.2838-68_2838-67delinsCA (n.2838-68_2838-67delinsCA)
n.7119_7120delinsCA
n.288_289delinsCA
n.332_333delinsCA
n.874_875delinsCA
c.2800_2801delinsCA (p.Gln934=)
c.2713_2714delinsCA (p.Gln905=)
c.1672_1673delinsCA (p.Gln558=)
17g.46032235G>ACA399987209KANSL1c.2902C>T (p.Gln968Ter)
c.2899C>T (p.Gln967Ter)
c.2710C>T (p.Gln904Ter)
n.730C>T
n.850C>T
c.559C>T (p.Gln187Ter)
n.319C>T
c.2838-68C>T (n.2838-68C>T)
n.7119C>T
n.288C>T
n.332C>T
n.874C>T
c.2800C>T (p.Gln934Ter)
c.2713C>T (p.Gln905Ter)
c.1672C>T (p.Gln558Ter)
ClinVar dbSNP
17g.46032235G>CCA399987210KANSL1c.2902C>G (p.Gln968Glu)
c.2899C>G (p.Gln967Glu)
c.2710C>G (p.Gln904Glu)
n.730C>G
n.850C>G
c.559C>G (p.Gln187Glu)
n.319C>G
c.2838-68C>G (n.2838-68C>G)
n.7119C>G
n.288C>G
n.332C>G
n.874C>G
c.2800C>G (p.Gln934Glu)
c.2713C>G (p.Gln905Glu)
c.1672C>G (p.Gln558Glu)
17g.46032235G=CA2262111057KANSL1c.2902C= (p.Gln968=)
c.2899C= (p.Gln967=)
c.2710C= (p.Gln904=)
n.730C=
n.850C=
c.559C= (p.Gln187=)
n.319C=
c.2838-68C= (n.2838-68C=)
n.7119C=
n.288C=
n.332C=
n.874C=
c.2800C= (p.Gln934=)
c.2713C= (p.Gln905=)
c.1672C= (p.Gln558=)
17g.46032235G>TCA399987211KANSL1c.2902C>A (p.Gln968Lys)
c.2899C>A (p.Gln967Lys)
c.2710C>A (p.Gln904Lys)
n.730C>A
n.850C>A
c.559C>A (p.Gln187Lys)
n.319C>A
c.2838-68C>A (n.2838-68C>A)
n.7119C>A
n.288C>A
n.332C>A
n.874C>A
c.2800C>A (p.Gln934Lys)
c.2713C>A (p.Gln905Lys)
c.1672C>A (p.Gln558Lys)
17g.46032240dupCA915950167KANSL1c.2902dup (p.Gln968ProfsTer6)
c.2899dup (p.Gln967ProfsTer6)
c.2710dup (p.Gln904ProfsTer6)
n.730dup
n.850dup
c.559dup (p.Gln187ProfsTer6)
n.319dup
c.2838-68dup (n.2838-68dup)
n.7119dup
n.288dup
n.332dup
n.874dup
c.2800dup (p.Gln934ProfsTer6)
c.2713dup (p.Gln905ProfsTer6)
c.1672dup (p.Gln558ProfsTer6)
ClinVar dbSNP
17g.46032239_46032240dupCA2809640686KANSL1c.2901_2902dup (p.Gln968ProfsTer?)
c.2898_2899dup (p.Gln967ProfsTer?)
c.2709_2710dup (p.Gln904ProfsTer?)
n.729_730dup
n.849_850dup
c.558_559dup (p.Gln187ProfsTer?)
n.318_319dup
c.2838-69_2838-68dup (n.2838-69_2838-68dup)
n.7118_7119dup
n.287_288dup
n.331_332dup
n.873_874dup
c.2799_2800dup (p.Gln934ProfsTer?)
c.2712_2713dup (p.Gln905ProfsTer?)
c.1671_1672dup (p.Gln558ProfsTer?)
17g.46032240delCA626333360KANSL1c.2902del (p.Gln968SerfsTer?)
c.2899del (p.Gln967SerfsTer?)
c.2710del (p.Gln904SerfsTer?)
n.730del
n.850del
c.559del (p.Gln187SerfsTer?)
n.319del
c.2838-68del (n.2838-68del)
n.7119del
n.288del
n.332del
n.874del
c.2800del (p.Gln934SerfsTer?)
c.2713del (p.Gln905SerfsTer?)
c.1672del (p.Gln558SerfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.46032236G>ACA500372041KANSL1c.2901C>T (p.Pro967=)
c.2898C>T (p.Pro966=)
c.2709C>T (p.Pro903=)
n.729C>T
n.849C>T
c.558C>T (p.Pro186=)
n.318C>T
c.2838-69C>T (n.2838-69C>T)
n.7118C>T
n.287C>T
n.331C>T
n.873C>T
c.2799C>T (p.Pro933=)
c.2712C>T (p.Pro904=)
c.1671C>T (p.Pro557=)
COSMIC
17g.46032236G>CCA500372040KANSL1c.2901C>G (p.Pro967=)
c.2898C>G (p.Pro966=)
c.2709C>G (p.Pro903=)
n.729C>G
n.849C>G
c.558C>G (p.Pro186=)
n.318C>G
c.2838-69C>G (n.2838-69C>G)
n.7118C>G
n.287C>G
n.331C>G
n.873C>G
c.2799C>G (p.Pro933=)
c.2712C>G (p.Pro904=)
c.1671C>G (p.Pro557=)
dbSNP gnomAD v4
17g.46032236G=CA2262111058KANSL1c.2901C= (p.Pro967=)
c.2898C= (p.Pro966=)
c.2709C= (p.Pro903=)
n.729C=
n.849C=
c.558C= (p.Pro186=)
n.318C=
c.2838-69C= (n.2838-69C=)
n.7118C=
n.287C=
n.331C=
n.873C=
c.2799C= (p.Pro933=)
c.2712C= (p.Pro904=)
c.1671C= (p.Pro557=)
17g.46032236G>TCA500372042KANSL1c.2901C>A (p.Pro967=)
c.2898C>A (p.Pro966=)
c.2709C>A (p.Pro903=)
n.729C>A
n.849C>A
c.558C>A (p.Pro186=)
n.318C>A
c.2838-69C>A (n.2838-69C>A)
n.7118C>A
n.287C>A
n.331C>A
n.873C>A
c.2799C>A (p.Pro933=)
c.2712C>A (p.Pro904=)
c.1671C>A (p.Pro557=)
ClinVar gnomAD v4
17g.46032237G>ACA399987212KANSL1c.2900C>T (p.Pro967Leu)
c.2897C>T (p.Pro966Leu)
c.2708C>T (p.Pro903Leu)
n.728C>T
n.848C>T
c.557C>T (p.Pro186Leu)
n.317C>T
c.2838-70C>T (n.2838-70C>T)
n.7117C>T
n.286C>T
n.330C>T
n.872C>T
c.2798C>T (p.Pro933Leu)
c.2711C>T (p.Pro904Leu)
c.1670C>T (p.Pro557Leu)
ClinVar dbSNP gnomAD v4
17g.46032237G>CCA399987214KANSL1c.2900C>G (p.Pro967Arg)
c.2897C>G (p.Pro966Arg)
c.2708C>G (p.Pro903Arg)
n.728C>G
n.848C>G
c.557C>G (p.Pro186Arg)
n.317C>G
c.2838-70C>G (n.2838-70C>G)
n.7117C>G
n.286C>G
n.330C>G
n.872C>G
c.2798C>G (p.Pro933Arg)
c.2711C>G (p.Pro904Arg)
c.1670C>G (p.Pro557Arg)
17g.46032237G=CA2262111059KANSL1c.2900C= (p.Pro967=)
c.2897C= (p.Pro966=)
c.2708C= (p.Pro903=)
n.728C=
n.848C=
c.557C= (p.Pro186=)
n.317C=
c.2838-70C= (n.2838-70C=)
n.7117C=
n.286C=
n.330C=
n.872C=
c.2798C= (p.Pro933=)
c.2711C= (p.Pro904=)
c.1670C= (p.Pro557=)
17g.46032237G>TCA8618420KANSL1c.2900C>A (p.Pro967His)
c.2897C>A (p.Pro966His)
c.2708C>A (p.Pro903His)
n.728C>A
n.848C>A
c.557C>A (p.Pro186His)
n.317C>A
c.2838-70C>A (n.2838-70C>A)
n.7117C>A
n.286C>A
n.330C>A
n.872C>A
c.2798C>A (p.Pro933His)
c.2711C>A (p.Pro904His)
c.1670C>A (p.Pro557His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032238G>ACA399987216KANSL1c.2899C>T (p.Pro967Ser)
c.2896C>T (p.Pro966Ser)
c.2707C>T (p.Pro903Ser)
n.727C>T
n.847C>T
c.556C>T (p.Pro186Ser)
n.316C>T
c.2838-71C>T (n.2838-71C>T)
n.7116C>T
n.285C>T
n.329C>T
n.871C>T
c.2797C>T (p.Pro933Ser)
c.2710C>T (p.Pro904Ser)
c.1669C>T (p.Pro557Ser)
17g.46032238G>CCA399987217KANSL1c.2899C>G (p.Pro967Ala)
c.2896C>G (p.Pro966Ala)
c.2707C>G (p.Pro903Ala)
n.727C>G
n.847C>G
c.556C>G (p.Pro186Ala)
n.316C>G
c.2838-71C>G (n.2838-71C>G)
n.7116C>G
n.285C>G
n.329C>G
n.871C>G
c.2797C>G (p.Pro933Ala)
c.2710C>G (p.Pro904Ala)
c.1669C>G (p.Pro557Ala)
gnomAD v4
17g.46032238G>TCA399987218KANSL1c.2899C>A (p.Pro967Thr)
c.2896C>A (p.Pro966Thr)
c.2707C>A (p.Pro903Thr)
n.727C>A
n.847C>A
c.556C>A (p.Pro186Thr)
n.316C>A
c.2838-71C>A (n.2838-71C>A)
n.7116C>A
n.285C>A
n.329C>A
n.871C>A
c.2797C>A (p.Pro933Thr)
c.2710C>A (p.Pro904Thr)
c.1669C>A (p.Pro557Thr)
17g.46032239G>ACA8618421KANSL1c.2898C>T (p.Thr966=)
c.2895C>T (p.Thr965=)
c.2706C>T (p.Thr902=)
n.726C>T
n.846C>T
c.555C>T (p.Thr185=)
n.315C>T
c.2838-72C>T (n.2838-72C>T)
n.7115C>T
n.284C>T
n.328C>T
n.870C>T
c.2796C>T (p.Thr932=)
c.2709C>T (p.Thr903=)
c.1668C>T (p.Thr556=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032239G>CCA500372044KANSL1c.2898C>G (p.Thr966=)
c.2895C>G (p.Thr965=)
c.2706C>G (p.Thr902=)
n.726C>G
n.846C>G
c.555C>G (p.Thr185=)
n.315C>G
c.2838-72C>G (n.2838-72C>G)
n.7115C>G
n.284C>G
n.328C>G
n.870C>G
c.2796C>G (p.Thr932=)
c.2709C>G (p.Thr903=)
c.1668C>G (p.Thr556=)
17g.46032239G=CA2262111060KANSL1c.2898C= (p.Thr966=)
c.2895C= (p.Thr965=)
c.2706C= (p.Thr902=)
n.726C=
n.846C=
c.555C= (p.Thr185=)
n.315C=
c.2838-72C= (n.2838-72C=)
n.7115C=
n.284C=
n.328C=
n.870C=
c.2796C= (p.Thr932=)
c.2709C= (p.Thr903=)
c.1668C= (p.Thr556=)
17g.46032239G>TCA500372043KANSL1c.2898C>A (p.Thr966=)
c.2895C>A (p.Thr965=)
c.2706C>A (p.Thr902=)
n.726C>A
n.846C>A
c.555C>A (p.Thr185=)
n.315C>A
c.2838-72C>A (n.2838-72C>A)
n.7115C>A
n.284C>A
n.328C>A
n.870C>A
c.2796C>A (p.Thr932=)
c.2709C>A (p.Thr903=)
c.1668C>A (p.Thr556=)
gnomAD v4
17g.46032240G>ACA8618422KANSL1c.2897C>T (p.Thr966Ile)
c.2894C>T (p.Thr965Ile)
c.2705C>T (p.Thr902Ile)
n.725C>T
n.845C>T
c.554C>T (p.Thr185Ile)
n.314C>T
c.2838-73C>T (n.2838-73C>T)
n.7114C>T
n.283C>T
n.327C>T
n.869C>T
c.2795C>T (p.Thr932Ile)
c.2708C>T (p.Thr903Ile)
c.1667C>T (p.Thr556Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032240G>CCA399987223KANSL1c.2897C>G (p.Thr966Ser)
c.2894C>G (p.Thr965Ser)
c.2705C>G (p.Thr902Ser)
n.725C>G
n.845C>G
c.554C>G (p.Thr185Ser)
n.314C>G
c.2838-73C>G (n.2838-73C>G)
n.7114C>G
n.283C>G
n.327C>G
n.869C>G
c.2795C>G (p.Thr932Ser)
c.2708C>G (p.Thr903Ser)
c.1667C>G (p.Thr556Ser)
17g.46032240G=CA2262111061KANSL1c.2897C= (p.Thr966=)
c.2894C= (p.Thr965=)
c.2705C= (p.Thr902=)
n.725C=
n.845C=
c.554C= (p.Thr185=)
n.314C=
c.2838-73C= (n.2838-73C=)
n.7114C=
n.283C=
n.327C=
n.869C=
c.2795C= (p.Thr932=)
c.2708C= (p.Thr903=)
c.1667C= (p.Thr556=)
17g.46032240G>TCA399987224KANSL1c.2897C>A (p.Thr966Asn)
c.2894C>A (p.Thr965Asn)
c.2705C>A (p.Thr902Asn)
n.725C>A
n.845C>A
c.554C>A (p.Thr185Asn)
n.314C>A
c.2838-73C>A (n.2838-73C>A)
n.7114C>A
n.283C>A
n.327C>A
n.869C>A
c.2795C>A (p.Thr932Asn)
c.2708C>A (p.Thr903Asn)
c.1667C>A (p.Thr556Asn)
dbSNP gnomAD v4
17g.46032241T>ACA399987228KANSL1c.2896A>T (p.Thr966Ser)
c.2893A>T (p.Thr965Ser)
c.2704A>T (p.Thr902Ser)
n.724A>T
n.844A>T
c.553A>T (p.Thr185Ser)
n.313A>T
c.2838-74A>T (n.2838-74A>T)
n.7113A>T
n.282A>T
n.326A>T
n.868A>T
c.2794A>T (p.Thr932Ser)
c.2707A>T (p.Thr903Ser)
c.1666A>T (p.Thr556Ser)
17g.46032241T>CCA399987230KANSL1c.2896A>G (p.Thr966Ala)
c.2893A>G (p.Thr965Ala)
c.2704A>G (p.Thr902Ala)
n.724A>G
n.844A>G
c.553A>G (p.Thr185Ala)
n.313A>G
c.2838-74A>G (n.2838-74A>G)
n.7113A>G
n.282A>G
n.326A>G
n.868A>G
c.2794A>G (p.Thr932Ala)
c.2707A>G (p.Thr903Ala)
c.1666A>G (p.Thr556Ala)
17g.46032241T>GCA8618423KANSL1c.2896A>C (p.Thr966Pro)
c.2893A>C (p.Thr965Pro)
c.2704A>C (p.Thr902Pro)
n.724A>C
n.844A>C
c.553A>C (p.Thr185Pro)
n.313A>C
c.2838-74A>C (n.2838-74A>C)
n.7113A>C
n.282A>C
n.326A>C
n.868A>C
c.2794A>C (p.Thr932Pro)
c.2707A>C (p.Thr903Pro)
c.1666A>C (p.Thr556Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032241T=CA2262111062KANSL1c.2896A= (p.Thr966=)
c.2893A= (p.Thr965=)
c.2704A= (p.Thr902=)
n.724A=
n.844A=
c.553A= (p.Thr185=)
n.313A=
c.2838-74A= (n.2838-74A=)
n.7113A=
n.282A=
n.326A=
n.868A=
c.2794A= (p.Thr932=)
c.2707A= (p.Thr903=)
c.1666A= (p.Thr556=)
17g.46032241_46032264dupCA645596184KANSL1c.2873_2896dup (p.Ser965_Thr966insLysLeuGlySerAlaAsnProSer)
c.2870_2893dup (p.Ser964_Thr965insLysLeuGlySerAlaAsnProSer)
c.2681_2704dup (p.Ser901_Thr902insLysLeuGlySerAlaAsnProSer)
n.701_724dup
n.821_844dup
c.530_553dup (p.Ser184_Thr185insLysLeuGlySerAlaAsnProSer)
n.290_313dup
c.2838-97_2838-74dup (n.2838-97_2838-74dup)
n.7090_7113dup
n.259_282dup
n.303_326dup
n.845_868dup
c.2771_2794dup (p.Ser931_Thr932insLysLeuGlySerAlaAsnProSer)
c.2684_2707dup (p.Ser902_Thr903insLysLeuGlySerAlaAsnProSer)
c.1643_1666dup (p.Ser555_Thr556insLysLeuGlySerAlaAsnProSer)
COSMIC
17g.46032242G>ACA500372045KANSL1c.2895C>T (p.Ser965=)
c.2892C>T (p.Ser964=)
c.2703C>T (p.Ser901=)
n.723C>T
n.843C>T
c.552C>T (p.Ser184=)
n.312C>T
c.2838-75C>T (n.2838-75C>T)
n.7112C>T
n.281C>T
n.325C>T
n.867C>T
c.2793C>T (p.Ser931=)
c.2706C>T (p.Ser902=)
c.1665C>T (p.Ser555=)
17g.46032242G>CCA500372046KANSL1c.2895C>G (p.Ser965=)
c.2892C>G (p.Ser964=)
c.2703C>G (p.Ser901=)
n.723C>G
n.843C>G
c.552C>G (p.Ser184=)
n.312C>G
c.2838-75C>G (n.2838-75C>G)
n.7112C>G
n.281C>G
n.325C>G
n.867C>G
c.2793C>G (p.Ser931=)
c.2706C>G (p.Ser902=)
c.1665C>G (p.Ser555=)
17g.46032242G>TCA500372047KANSL1c.2895C>A (p.Ser965=)
c.2892C>A (p.Ser964=)
c.2703C>A (p.Ser901=)
n.723C>A
n.843C>A
c.552C>A (p.Ser184=)
n.312C>A
c.2838-75C>A (n.2838-75C>A)
n.7112C>A
n.281C>A
n.325C>A
n.867C>A
c.2793C>A (p.Ser931=)
c.2706C>A (p.Ser902=)
c.1665C>A (p.Ser555=)
17g.46032243G>ACA399987232KANSL1c.2894C>T (p.Ser965Phe)
c.2891C>T (p.Ser964Phe)
c.2702C>T (p.Ser901Phe)
n.722C>T
n.842C>T
c.551C>T (p.Ser184Phe)
n.311C>T
c.2838-76C>T (n.2838-76C>T)
n.7111C>T
n.280C>T
n.324C>T
n.866C>T
c.2792C>T (p.Ser931Phe)
c.2705C>T (p.Ser902Phe)
c.1664C>T (p.Ser555Phe)
gnomAD v4
17g.46032243G>CCA399987233KANSL1c.2894C>G (p.Ser965Cys)
c.2891C>G (p.Ser964Cys)
c.2702C>G (p.Ser901Cys)
n.722C>G
n.842C>G
c.551C>G (p.Ser184Cys)
n.311C>G
c.2838-76C>G (n.2838-76C>G)
n.7111C>G
n.280C>G
n.324C>G
n.866C>G
c.2792C>G (p.Ser931Cys)
c.2705C>G (p.Ser902Cys)
c.1664C>G (p.Ser555Cys)
ClinVar
17g.46032243G>TCA399987235KANSL1c.2894C>A (p.Ser965Tyr)
c.2891C>A (p.Ser964Tyr)
c.2702C>A (p.Ser901Tyr)
n.722C>A
n.842C>A
c.551C>A (p.Ser184Tyr)
n.311C>A
c.2838-76C>A (n.2838-76C>A)
n.7111C>A
n.280C>A
n.324C>A
n.866C>A
c.2792C>A (p.Ser931Tyr)
c.2705C>A (p.Ser902Tyr)
c.1664C>A (p.Ser555Tyr)
17g.46032244A=CA2262111063KANSL1c.2893T= (p.Ser965=)
c.2890T= (p.Ser964=)
c.2701T= (p.Ser901=)
n.721T=
n.841T=
c.550T= (p.Ser184=)
n.310T=
c.2838-77T= (n.2838-77T=)
n.7110T=
n.279T=
n.323T=
n.865T=
c.2791T= (p.Ser931=)
c.2704T= (p.Ser902=)
c.1663T= (p.Ser555=)
17g.46032244A>CCA399987237KANSL1c.2893T>G (p.Ser965Ala)
c.2890T>G (p.Ser964Ala)
c.2701T>G (p.Ser901Ala)
n.721T>G
n.841T>G
c.550T>G (p.Ser184Ala)
n.310T>G
c.2838-77T>G (n.2838-77T>G)
n.7110T>G
n.279T>G
n.323T>G
n.865T>G
c.2791T>G (p.Ser931Ala)
c.2704T>G (p.Ser902Ala)
c.1663T>G (p.Ser555Ala)
17g.46032244A>GCA399987239KANSL1c.2893T>C (p.Ser965Pro)
c.2890T>C (p.Ser964Pro)
c.2701T>C (p.Ser901Pro)
n.721T>C
n.841T>C
c.550T>C (p.Ser184Pro)
n.310T>C
c.2838-77T>C (n.2838-77T>C)
n.7110T>C
n.279T>C
n.323T>C
n.865T>C
c.2791T>C (p.Ser931Pro)
c.2704T>C (p.Ser902Pro)
c.1663T>C (p.Ser555Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46032244A>TCA399987241KANSL1c.2893T>A (p.Ser965Thr)
c.2890T>A (p.Ser964Thr)
c.2701T>A (p.Ser901Thr)
n.721T>A
n.841T>A
c.550T>A (p.Ser184Thr)
n.310T>A
c.2838-77T>A (n.2838-77T>A)
n.7110T>A
n.279T>A
n.323T>A
n.865T>A
c.2791T>A (p.Ser931Thr)
c.2704T>A (p.Ser902Thr)
c.1663T>A (p.Ser555Thr)
17g.46032245G>ACA500372049KANSL1c.2892C>T (p.Pro964=)
c.2889C>T (p.Pro963=)
c.2700C>T (p.Pro900=)
n.720C>T
n.840C>T
c.549C>T (p.Pro183=)
n.309C>T
c.2838-78C>T (n.2838-78C>T)
n.7109C>T
n.278C>T
n.322C>T
n.864C>T
c.2790C>T (p.Pro930=)
c.2703C>T (p.Pro901=)
c.1662C>T (p.Pro554=)
gnomAD v4
17g.46032245G>CCA500372050KANSL1c.2892C>G (p.Pro964=)
c.2889C>G (p.Pro963=)
c.2700C>G (p.Pro900=)
n.720C>G
n.840C>G
c.549C>G (p.Pro183=)
n.309C>G
c.2838-78C>G (n.2838-78C>G)
n.7109C>G
n.278C>G
n.322C>G
n.864C>G
c.2790C>G (p.Pro930=)
c.2703C>G (p.Pro901=)
c.1662C>G (p.Pro554=)
gnomAD v4
17g.46032245G>TCA500372048KANSL1c.2892C>A (p.Pro964=)
c.2889C>A (p.Pro963=)
c.2700C>A (p.Pro900=)
n.720C>A
n.840C>A
c.549C>A (p.Pro183=)
n.309C>A
c.2838-78C>A (n.2838-78C>A)
n.7109C>A
n.278C>A
n.322C>A
n.864C>A
c.2790C>A (p.Pro930=)
c.2703C>A (p.Pro901=)
c.1662C>A (p.Pro554=)
17g.46032246G>ACA399987243KANSL1c.2891C>T (p.Pro964Leu)
c.2888C>T (p.Pro963Leu)
c.2699C>T (p.Pro900Leu)
n.719C>T
n.839C>T
c.548C>T (p.Pro183Leu)
n.308C>T
c.2838-79C>T (n.2838-79C>T)
n.7108C>T
n.277C>T
n.321C>T
n.863C>T
c.2789C>T (p.Pro930Leu)
c.2702C>T (p.Pro901Leu)
c.1661C>T (p.Pro554Leu)
gnomAD v4 COSMIC
17g.46032246G>CCA399987245KANSL1c.2891C>G (p.Pro964Arg)
c.2888C>G (p.Pro963Arg)
c.2699C>G (p.Pro900Arg)
n.719C>G
n.839C>G
c.548C>G (p.Pro183Arg)
n.308C>G
c.2838-79C>G (n.2838-79C>G)
n.7108C>G
n.277C>G
n.321C>G
n.863C>G
c.2789C>G (p.Pro930Arg)
c.2702C>G (p.Pro901Arg)
c.1661C>G (p.Pro554Arg)
17g.46032246G>TCA399987248KANSL1c.2891C>A (p.Pro964His)
c.2888C>A (p.Pro963His)
c.2699C>A (p.Pro900His)
n.719C>A
n.839C>A
c.548C>A (p.Pro183His)
n.308C>A
c.2838-79C>A (n.2838-79C>A)
n.7108C>A
n.277C>A
n.321C>A
n.863C>A
c.2789C>A (p.Pro930His)
c.2702C>A (p.Pro901His)
c.1661C>A (p.Pro554His)
17g.46032247G>ACA399987250KANSL1c.2890C>T (p.Pro964Ser)
c.2887C>T (p.Pro963Ser)
c.2698C>T (p.Pro900Ser)
n.718C>T
n.838C>T
c.547C>T (p.Pro183Ser)
n.307C>T
c.2838-80C>T (n.2838-80C>T)
n.7107C>T
n.276C>T
n.320C>T
n.862C>T
c.2788C>T (p.Pro930Ser)
c.2701C>T (p.Pro901Ser)
c.1660C>T (p.Pro554Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.46032247G>CCA399987253KANSL1c.2890C>G (p.Pro964Ala)
c.2887C>G (p.Pro963Ala)
c.2698C>G (p.Pro900Ala)
n.718C>G
n.838C>G
c.547C>G (p.Pro183Ala)
n.307C>G
c.2838-80C>G (n.2838-80C>G)
n.7107C>G
n.276C>G
n.320C>G
n.862C>G
c.2788C>G (p.Pro930Ala)
c.2701C>G (p.Pro901Ala)
c.1660C>G (p.Pro554Ala)
17g.46032247G=CA2262111064KANSL1c.2890C= (p.Pro964=)
c.2887C= (p.Pro963=)
c.2698C= (p.Pro900=)
n.718C=
n.838C=
c.547C= (p.Pro183=)
n.307C=
c.2838-80C= (n.2838-80C=)
n.7107C=
n.276C=
n.320C=
n.862C=
c.2788C= (p.Pro930=)
c.2701C= (p.Pro901=)
c.1660C= (p.Pro554=)
17g.46032247G>TCA399987254KANSL1c.2890C>A (p.Pro964Thr)
c.2887C>A (p.Pro963Thr)
c.2698C>A (p.Pro900Thr)
n.718C>A
n.838C>A
c.547C>A (p.Pro183Thr)
n.307C>A
c.2838-80C>A (n.2838-80C>A)
n.7107C>A
n.276C>A
n.320C>A
n.862C>A
c.2788C>A (p.Pro930Thr)
c.2701C>A (p.Pro901Thr)
c.1660C>A (p.Pro554Thr)
17g.46032248G>ACA500372051KANSL1c.2889C>T (p.Asn963=)
c.2886C>T (p.Asn962=)
c.2697C>T (p.Asn899=)
n.717C>T
n.837C>T
c.546C>T (p.Asn182=)
n.306C>T
c.2838-81C>T (n.2838-81C>T)
n.7106C>T
n.275C>T
n.319C>T
n.861C>T
c.2787C>T (p.Asn929=)
c.2700C>T (p.Asn900=)
c.1659C>T (p.Asn553=)
ClinVar dbSNP gnomAD v4
17g.46032248G>CCA399987257KANSL1c.2889C>G (p.Asn963Lys)
c.2886C>G (p.Asn962Lys)
c.2697C>G (p.Asn899Lys)
n.717C>G
n.837C>G
c.546C>G (p.Asn182Lys)
n.306C>G
c.2838-81C>G (n.2838-81C>G)
n.7106C>G
n.275C>G
n.319C>G
n.861C>G
c.2787C>G (p.Asn929Lys)
c.2700C>G (p.Asn900Lys)
c.1659C>G (p.Asn553Lys)
ClinVar
17g.46032248G=CA2262111065KANSL1c.2889C= (p.Asn963=)
c.2886C= (p.Asn962=)
c.2697C= (p.Asn899=)
n.717C=
n.837C=
c.546C= (p.Asn182=)
n.306C=
c.2838-81C= (n.2838-81C=)
n.7106C=
n.275C=
n.319C=
n.861C=
c.2787C= (p.Asn929=)
c.2700C= (p.Asn900=)
c.1659C= (p.Asn553=)
17g.46032248G>TCA399987256KANSL1c.2889C>A (p.Asn963Lys)
c.2886C>A (p.Asn962Lys)
c.2697C>A (p.Asn899Lys)
n.717C>A
n.837C>A
c.546C>A (p.Asn182Lys)
n.306C>A
c.2838-81C>A (n.2838-81C>A)
n.7106C>A
n.275C>A
n.319C>A
n.861C>A
c.2787C>A (p.Asn929Lys)
c.2700C>A (p.Asn900Lys)
c.1659C>A (p.Asn553Lys)
gnomAD v4
17g.46032249T>ACA399987259KANSL1c.2888A>T (p.Asn963Ile)
c.2885A>T (p.Asn962Ile)
c.2696A>T (p.Asn899Ile)
n.716A>T
n.836A>T
c.545A>T (p.Asn182Ile)
n.305A>T
c.2838-82A>T (n.2838-82A>T)
n.7105A>T
n.274A>T
n.318A>T
n.860A>T
c.2786A>T (p.Asn929Ile)
c.2699A>T (p.Asn900Ile)
c.1658A>T (p.Asn553Ile)
17g.46032249T>CCA399987260KANSL1c.2888A>G (p.Asn963Ser)
c.2885A>G (p.Asn962Ser)
c.2696A>G (p.Asn899Ser)
n.716A>G
n.836A>G
c.545A>G (p.Asn182Ser)
n.305A>G
c.2838-82A>G (n.2838-82A>G)
n.7105A>G
n.274A>G
n.318A>G
n.860A>G
c.2786A>G (p.Asn929Ser)
c.2699A>G (p.Asn900Ser)
c.1658A>G (p.Asn553Ser)
17g.46032249T>GCA399987261KANSL1c.2888A>C (p.Asn963Thr)
c.2885A>C (p.Asn962Thr)
c.2696A>C (p.Asn899Thr)
n.716A>C
n.836A>C
c.545A>C (p.Asn182Thr)
n.305A>C
c.2838-82A>C (n.2838-82A>C)
n.7105A>C
n.274A>C
n.318A>C
n.860A>C
c.2786A>C (p.Asn929Thr)
c.2699A>C (p.Asn900Thr)
c.1658A>C (p.Asn553Thr)
17g.46032250T>ACA399987263KANSL1c.2887A>T (p.Asn963Tyr)
c.2884A>T (p.Asn962Tyr)
c.2695A>T (p.Asn899Tyr)
n.715A>T
n.835A>T
c.544A>T (p.Asn182Tyr)
n.304A>T
c.2838-83A>T (n.2838-83A>T)
n.7104A>T
n.273A>T
n.317A>T
n.859A>T
c.2785A>T (p.Asn929Tyr)
c.2698A>T (p.Asn900Tyr)
c.1657A>T (p.Asn553Tyr)
17g.46032250T>CCA399987265KANSL1c.2887A>G (p.Asn963Asp)
c.2884A>G (p.Asn962Asp)
c.2695A>G (p.Asn899Asp)
n.715A>G
n.835A>G
c.544A>G (p.Asn182Asp)
n.304A>G
c.2838-83A>G (n.2838-83A>G)
n.7104A>G
n.273A>G
n.317A>G
n.859A>G
c.2785A>G (p.Asn929Asp)
c.2698A>G (p.Asn900Asp)
c.1657A>G (p.Asn553Asp)
17g.46032250T>GCA399987267KANSL1c.2887A>C (p.Asn963His)
c.2884A>C (p.Asn962His)
c.2695A>C (p.Asn899His)
n.715A>C
n.835A>C
c.544A>C (p.Asn182His)
n.304A>C
c.2838-83A>C (n.2838-83A>C)
n.7104A>C
n.273A>C
n.317A>C
n.859A>C
c.2785A>C (p.Asn929His)
c.2698A>C (p.Asn900His)
c.1657A>C (p.Asn553His)
17g.46032251G>ACA500372053KANSL1c.2886C>T (p.Ala962=)
c.2883C>T (p.Ala961=)
c.2694C>T (p.Ala898=)
n.714C>T
n.834C>T
c.543C>T (p.Ala181=)
n.303C>T
c.2838-84C>T (n.2838-84C>T)
n.7103C>T
n.272C>T
n.316C>T
n.858C>T
c.2784C>T (p.Ala928=)
c.2697C>T (p.Ala899=)
c.1656C>T (p.Ala552=)
dbSNP gnomAD v2 gnomAD v4
17g.46032251G>CCA500372052KANSL1c.2886C>G (p.Ala962=)
c.2883C>G (p.Ala961=)
c.2694C>G (p.Ala898=)
n.714C>G
n.834C>G
c.543C>G (p.Ala181=)
n.303C>G
c.2838-84C>G (n.2838-84C>G)
n.7103C>G
n.272C>G
n.316C>G
n.858C>G
c.2784C>G (p.Ala928=)
c.2697C>G (p.Ala899=)
c.1656C>G (p.Ala552=)
17g.46032251G=CA2262111066KANSL1c.2886C= (p.Ala962=)
c.2883C= (p.Ala961=)
c.2694C= (p.Ala898=)
n.714C=
n.834C=
c.543C= (p.Ala181=)
n.303C=
c.2838-84C= (n.2838-84C=)
n.7103C=
n.272C=
n.316C=
n.858C=
c.2784C= (p.Ala928=)
c.2697C= (p.Ala899=)
c.1656C= (p.Ala552=)
17g.46032251G>TCA291125983KANSL1c.2886C>A (p.Ala962=)
c.2883C>A (p.Ala961=)
c.2694C>A (p.Ala898=)
n.714C>A
n.834C>A
c.543C>A (p.Ala181=)
n.303C>A
c.2838-84C>A (n.2838-84C>A)
n.7103C>A
n.272C>A
n.316C>A
n.858C>A
c.2784C>A (p.Ala928=)
c.2697C>A (p.Ala899=)
c.1656C>A (p.Ala552=)
dbSNP gnomAD v4
17g.46032252G>ACA8618424KANSL1c.2885C>T (p.Ala962Val)
c.2882C>T (p.Ala961Val)
c.2693C>T (p.Ala898Val)
n.713C>T
n.833C>T
c.542C>T (p.Ala181Val)
n.302C>T
c.2838-85C>T (n.2838-85C>T)
n.7102C>T
n.271C>T
n.315C>T
n.857C>T
c.2783C>T (p.Ala928Val)
c.2696C>T (p.Ala899Val)
c.1655C>T (p.Ala552Val)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032252G>CCA399987271KANSL1c.2885C>G (p.Ala962Gly)
c.2882C>G (p.Ala961Gly)
c.2693C>G (p.Ala898Gly)
n.713C>G
n.833C>G
c.542C>G (p.Ala181Gly)
n.302C>G
c.2838-85C>G (n.2838-85C>G)
n.7102C>G
n.271C>G
n.315C>G
n.857C>G
c.2783C>G (p.Ala928Gly)
c.2696C>G (p.Ala899Gly)
c.1655C>G (p.Ala552Gly)
17g.46032252G=CA2262111067KANSL1c.2885C= (p.Ala962=)
c.2882C= (p.Ala961=)
c.2693C= (p.Ala898=)
n.713C=
n.833C=
c.542C= (p.Ala181=)
n.302C=
c.2838-85C= (n.2838-85C=)
n.7102C=
n.271C=
n.315C=
n.857C=
c.2783C= (p.Ala928=)
c.2696C= (p.Ala899=)
c.1655C= (p.Ala552=)
17g.46032252G>TCA399987272KANSL1c.2885C>A (p.Ala962Asp)
c.2882C>A (p.Ala961Asp)
c.2693C>A (p.Ala898Asp)
n.713C>A
n.833C>A
c.542C>A (p.Ala181Asp)
n.302C>A
c.2838-85C>A (n.2838-85C>A)
n.7102C>A
n.271C>A
n.315C>A
n.857C>A
c.2783C>A (p.Ala928Asp)
c.2696C>A (p.Ala899Asp)
c.1655C>A (p.Ala552Asp)
17g.46032253C>ACA399987273KANSL1c.2884G>T (p.Ala962Ser)
c.2881G>T (p.Ala961Ser)
c.2692G>T (p.Ala898Ser)
n.712G>T
n.832G>T
c.541G>T (p.Ala181Ser)
n.301G>T
c.2838-86G>T (n.2838-86G>T)
n.7101G>T
n.270G>T
n.314G>T
n.856G>T
c.2782G>T (p.Ala928Ser)
c.2695G>T (p.Ala899Ser)
c.1654G>T (p.Ala552Ser)
17g.46032253C=CA2262111068KANSL1c.2884G= (p.Ala962=)
c.2881G= (p.Ala961=)
c.2692G= (p.Ala898=)
n.712G=
n.832G=
c.541G= (p.Ala181=)
n.301G=
c.2838-86G= (n.2838-86G=)
n.7101G=
n.270G=
n.314G=
n.856G=
c.2782G= (p.Ala928=)
c.2695G= (p.Ala899=)
c.1654G= (p.Ala552=)
17g.46032253C>GCA399987274KANSL1c.2884G>C (p.Ala962Pro)
c.2881G>C (p.Ala961Pro)
c.2692G>C (p.Ala898Pro)
n.712G>C
n.832G>C
c.541G>C (p.Ala181Pro)
n.301G>C
c.2838-86G>C (n.2838-86G>C)
n.7101G>C
n.270G>C
n.314G>C
n.856G>C
c.2782G>C (p.Ala928Pro)
c.2695G>C (p.Ala899Pro)
c.1654G>C (p.Ala552Pro)
17g.46032253C>TCA291126013KANSL1c.2884G>A (p.Ala962Thr)
c.2881G>A (p.Ala961Thr)
c.2692G>A (p.Ala898Thr)
n.712G>A
n.832G>A
c.541G>A (p.Ala181Thr)
n.301G>A
c.2838-86G>A (n.2838-86G>A)
n.7101G>A
n.270G>A
n.314G>A
n.856G>A
c.2782G>A (p.Ala928Thr)
c.2695G>A (p.Ala899Thr)
c.1654G>A (p.Ala552Thr)
dbSNP gnomAD v4
17g.46032254A>CCA399987275KANSL1c.2883T>G (p.Ser961Arg)
c.2880T>G (p.Ser960Arg)
c.2691T>G (p.Ser897Arg)
n.711T>G
n.831T>G
c.540T>G (p.Ser180Arg)
n.300T>G
c.2838-87T>G (n.2838-87T>G)
n.7100T>G
n.269T>G
n.313T>G
n.855T>G
c.2781T>G (p.Ser927Arg)
c.2694T>G (p.Ser898Arg)
c.1653T>G (p.Ser551Arg)
17g.46032254A>GCA500372054KANSL1c.2883T>C (p.Ser961=)
c.2880T>C (p.Ser960=)
c.2691T>C (p.Ser897=)
n.711T>C
n.831T>C
c.540T>C (p.Ser180=)
n.300T>C
c.2838-87T>C (n.2838-87T>C)
n.7100T>C
n.269T>C
n.313T>C
n.855T>C
c.2781T>C (p.Ser927=)
c.2694T>C (p.Ser898=)
c.1653T>C (p.Ser551=)
17g.46032254A>TCA399987276KANSL1c.2883T>A (p.Ser961Arg)
c.2880T>A (p.Ser960Arg)
c.2691T>A (p.Ser897Arg)
n.711T>A
n.831T>A
c.540T>A (p.Ser180Arg)
n.300T>A
c.2838-87T>A (n.2838-87T>A)
n.7100T>A
n.269T>A
n.313T>A
n.855T>A
c.2781T>A (p.Ser927Arg)
c.2694T>A (p.Ser898Arg)
c.1653T>A (p.Ser551Arg)
17g.46032255C>ACA399987277KANSL1c.2882G>T (p.Ser961Ile)
c.2879G>T (p.Ser960Ile)
c.2690G>T (p.Ser897Ile)
n.710G>T
n.830G>T
c.539G>T (p.Ser180Ile)
n.299G>T
c.2838-88G>T (n.2838-88G>T)
n.7099G>T
n.268G>T
n.312G>T
n.854G>T
c.2780G>T (p.Ser927Ile)
c.2693G>T (p.Ser898Ile)
c.1652G>T (p.Ser551Ile)
17g.46032255C>GCA399987279KANSL1c.2882G>C (p.Ser961Thr)
c.2879G>C (p.Ser960Thr)
c.2690G>C (p.Ser897Thr)
n.710G>C
n.830G>C
c.539G>C (p.Ser180Thr)
n.299G>C
c.2838-88G>C (n.2838-88G>C)
n.7099G>C
n.268G>C
n.312G>C
n.854G>C
c.2780G>C (p.Ser927Thr)
c.2693G>C (p.Ser898Thr)
c.1652G>C (p.Ser551Thr)
17g.46032255C>TCA399987278KANSL1c.2882G>A (p.Ser961Asn)
c.2879G>A (p.Ser960Asn)
c.2690G>A (p.Ser897Asn)
n.710G>A
n.830G>A
c.539G>A (p.Ser180Asn)
n.299G>A
c.2838-88G>A (n.2838-88G>A)
n.7099G>A
n.268G>A
n.312G>A
n.854G>A
c.2780G>A (p.Ser927Asn)
c.2693G>A (p.Ser898Asn)
c.1652G>A (p.Ser551Asn)
gnomAD v4
17g.46032256T>ACA399987280KANSL1c.2881A>T (p.Ser961Cys)
c.2878A>T (p.Ser960Cys)
c.2689A>T (p.Ser897Cys)
n.709A>T
n.829A>T
c.538A>T (p.Ser180Cys)
n.298A>T
c.2838-89A>T (n.2838-89A>T)
n.7098A>T
n.267A>T
n.311A>T
n.853A>T
c.2779A>T (p.Ser927Cys)
c.2692A>T (p.Ser898Cys)
c.1651A>T (p.Ser551Cys)
17g.46032256T>CCA399987281KANSL1c.2881A>G (p.Ser961Gly)
c.2878A>G (p.Ser960Gly)
c.2689A>G (p.Ser897Gly)
n.709A>G
n.829A>G
c.538A>G (p.Ser180Gly)
n.298A>G
c.2838-89A>G (n.2838-89A>G)
n.7098A>G
n.267A>G
n.311A>G
n.853A>G
c.2779A>G (p.Ser927Gly)
c.2692A>G (p.Ser898Gly)
c.1651A>G (p.Ser551Gly)
gnomAD v4
17g.46032256T>GCA399987282KANSL1c.2881A>C (p.Ser961Arg)
c.2878A>C (p.Ser960Arg)
c.2689A>C (p.Ser897Arg)
n.709A>C
n.829A>C
c.538A>C (p.Ser180Arg)
n.298A>C
c.2838-89A>C (n.2838-89A>C)
n.7098A>C
n.267A>C
n.311A>C
n.853A>C
c.2779A>C (p.Ser927Arg)
c.2692A>C (p.Ser898Arg)
c.1651A>C (p.Ser551Arg)
17g.46032257G>ACA500372055KANSL1c.2880C>T (p.Gly960=)
c.2877C>T (p.Gly959=)
c.2688C>T (p.Gly896=)
n.708C>T
n.828C>T
c.537C>T (p.Gly179=)
c.2691C>T (p.Gly897=)
n.297C>T
c.2838-90C>T (n.2838-90C>T)
n.7097C>T
n.266C>T
n.310C>T
n.852C>T
c.2778C>T (p.Gly926=)
c.1650C>T (p.Gly550=)
dbSNP gnomAD v2 gnomAD v4
17g.46032257G>CCA500372056KANSL1c.2880C>G (p.Gly960=)
c.2877C>G (p.Gly959=)
c.2688C>G (p.Gly896=)
n.708C>G
n.828C>G
c.537C>G (p.Gly179=)
c.2691C>G (p.Gly897=)
n.297C>G
c.2838-90C>G (n.2838-90C>G)
n.7097C>G
n.266C>G
n.310C>G
n.852C>G
c.2778C>G (p.Gly926=)
c.1650C>G (p.Gly550=)
17g.46032257G=CA2262111069KANSL1c.2880C= (p.Gly960=)
c.2877C= (p.Gly959=)
c.2688C= (p.Gly896=)
n.708C=
n.828C=
c.537C= (p.Gly179=)
c.2691C= (p.Gly897=)
n.297C=
c.2838-90C= (n.2838-90C=)
n.7097C=
n.266C=
n.310C=
n.852C=
c.2778C= (p.Gly926=)
c.1650C= (p.Gly550=)
17g.46032257G>TCA500372057KANSL1c.2880C>A (p.Gly960=)
c.2877C>A (p.Gly959=)
c.2688C>A (p.Gly896=)
n.708C>A
n.828C>A
c.537C>A (p.Gly179=)
c.2691C>A (p.Gly897=)
n.297C>A
c.2838-90C>A (n.2838-90C>A)
n.7097C>A
n.266C>A
n.310C>A
n.852C>A
c.2778C>A (p.Gly926=)
c.1650C>A (p.Gly550=)
17g.46032258C>ACA399987283KANSL1c.2879G>T (p.Gly960Val)
c.2876G>T (p.Gly959Val)
c.2687G>T (p.Gly896Val)
n.707G>T
n.827G>T
c.536G>T (p.Gly179Val)
c.2690G>T (p.Gly897Val)
n.296G>T
c.2838-91G>T (n.2838-91G>T)
n.7096G>T
n.265G>T
n.309G>T
n.851G>T
c.2777G>T (p.Gly926Val)
c.1649G>T (p.Gly550Val)
17g.46032258C=CA2262111070KANSL1c.2879G= (p.Gly960=)
c.2876G= (p.Gly959=)
c.2687G= (p.Gly896=)
n.707G=
n.827G=
c.536G= (p.Gly179=)
c.2690G= (p.Gly897=)
n.296G=
c.2838-91G= (n.2838-91G=)
n.7096G=
n.265G=
n.309G=
n.851G=
c.2777G= (p.Gly926=)
c.1649G= (p.Gly550=)
17g.46032258C>GCA399987284KANSL1c.2879G>C (p.Gly960Ala)
c.2876G>C (p.Gly959Ala)
c.2687G>C (p.Gly896Ala)
n.707G>C
n.827G>C
c.536G>C (p.Gly179Ala)
c.2690G>C (p.Gly897Ala)
n.296G>C
c.2838-91G>C (n.2838-91G>C)
n.7096G>C
n.265G>C
n.309G>C
n.851G>C
c.2777G>C (p.Gly926Ala)
c.1649G>C (p.Gly550Ala)
17g.46032258C>TCA399987285KANSL1c.2879G>A (p.Gly960Asp)
c.2876G>A (p.Gly959Asp)
c.2687G>A (p.Gly896Asp)
n.707G>A
n.827G>A
c.536G>A (p.Gly179Asp)
c.2690G>A (p.Gly897Asp)
n.296G>A
c.2838-91G>A (n.2838-91G>A)
n.7096G>A
n.265G>A
n.309G>A
n.851G>A
c.2777G>A (p.Gly926Asp)
c.1649G>A (p.Gly550Asp)
dbSNP gnomAD v2 gnomAD v4
17g.46032259C>ACA399987286KANSL1c.2878G>T (p.Gly960Cys)
c.2875G>T (p.Gly959Cys)
c.2686G>T (p.Gly896Cys)
n.706G>T
n.826G>T
c.535G>T (p.Gly179Cys)
c.2689G>T (p.Gly897Cys)
n.295G>T
c.2838-92G>T (n.2838-92G>T)
n.7095G>T
n.264G>T
n.308G>T
n.850G>T
c.2776G>T (p.Gly926Cys)
c.1648G>T (p.Gly550Cys)
17g.46032259C=CA2262111071KANSL1c.2878G= (p.Gly960=)
c.2875G= (p.Gly959=)
c.2686G= (p.Gly896=)
n.706G=
n.826G=
c.535G= (p.Gly179=)
c.2689G= (p.Gly897=)
n.295G=
c.2838-92G= (n.2838-92G=)
n.7095G=
n.264G=
n.308G=
n.850G=
c.2776G= (p.Gly926=)
c.1648G= (p.Gly550=)
17g.46032259C>GCA399987287KANSL1c.2878G>C (p.Gly960Arg)
c.2875G>C (p.Gly959Arg)
c.2686G>C (p.Gly896Arg)
n.706G>C
n.826G>C
c.535G>C (p.Gly179Arg)
c.2689G>C (p.Gly897Arg)
n.295G>C
c.2838-92G>C (n.2838-92G>C)
n.7095G>C
n.264G>C
n.308G>C
n.850G>C
c.2776G>C (p.Gly926Arg)
c.1648G>C (p.Gly550Arg)
17g.46032259C>TCA399987288KANSL1c.2878G>A (p.Gly960Ser)
c.2875G>A (p.Gly959Ser)
c.2686G>A (p.Gly896Ser)
n.706G>A
n.826G>A
c.535G>A (p.Gly179Ser)
c.2689G>A (p.Gly897Ser)
n.295G>A
c.2838-92G>A (n.2838-92G>A)
n.7095G>A
n.264G>A
n.308G>A
n.850G>A
c.2776G>A (p.Gly926Ser)
c.1648G>A (p.Gly550Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.46032260C>ACA500372059KANSL1c.2877G>T (p.Leu959=)
c.2874G>T (p.Leu958=)
c.2685G>T (p.Leu895=)
n.705G>T
n.825G>T
c.534G>T (p.Leu178=)
c.2688G>T (p.Leu896=)
n.294G>T
c.2838-93G>T (n.2838-93G>T)
n.7094G>T
n.263G>T
n.307G>T
n.849G>T
c.2775G>T (p.Leu925=)
c.1647G>T (p.Leu549=)
ClinVar dbSNP
17g.46032260C>GCA500372058KANSL1c.2877G>C (p.Leu959=)
c.2874G>C (p.Leu958=)
c.2685G>C (p.Leu895=)
n.705G>C
n.825G>C
c.534G>C (p.Leu178=)
c.2688G>C (p.Leu896=)
n.294G>C
c.2838-93G>C (n.2838-93G>C)
n.7094G>C
n.263G>C
n.307G>C
n.849G>C
c.2775G>C (p.Leu925=)
c.1647G>C (p.Leu549=)
17g.46032260C>TCA500372060KANSL1c.2877G>A (p.Leu959=)
c.2874G>A (p.Leu958=)
c.2685G>A (p.Leu895=)
n.705G>A
n.825G>A
c.534G>A (p.Leu178=)
c.2688G>A (p.Leu896=)
n.294G>A
c.2838-93G>A (n.2838-93G>A)
n.7094G>A
n.263G>A
n.307G>A
n.849G>A
c.2775G>A (p.Leu925=)
c.1647G>A (p.Leu549=)
17g.46032261A>CCA399987289KANSL1c.2876T>G (p.Leu959Arg)
c.2873T>G (p.Leu958Arg)
c.2684T>G (p.Leu895Arg)
n.704T>G
n.824T>G
c.533T>G (p.Leu178Arg)
c.2687T>G (p.Leu896Arg)
n.293T>G
c.2838-94T>G (n.2838-94T>G)
n.7093T>G
n.262T>G
n.306T>G
n.848T>G
c.2774T>G (p.Leu925Arg)
c.1646T>G (p.Leu549Arg)
17g.46032261A>GCA399987290KANSL1c.2876T>C (p.Leu959Pro)
c.2873T>C (p.Leu958Pro)
c.2684T>C (p.Leu895Pro)
n.704T>C
n.824T>C
c.533T>C (p.Leu178Pro)
c.2687T>C (p.Leu896Pro)
n.293T>C
c.2838-94T>C (n.2838-94T>C)
n.7093T>C
n.262T>C
n.306T>C
n.848T>C
c.2774T>C (p.Leu925Pro)
c.1646T>C (p.Leu549Pro)
gnomAD v4
17g.46032261A>TCA399987291KANSL1c.2876T>A (p.Leu959Gln)
c.2873T>A (p.Leu958Gln)
c.2684T>A (p.Leu895Gln)
n.704T>A
n.824T>A
c.533T>A (p.Leu178Gln)
c.2687T>A (p.Leu896Gln)
n.293T>A
c.2838-94T>A (n.2838-94T>A)
n.7093T>A
n.262T>A
n.306T>A
n.848T>A
c.2774T>A (p.Leu925Gln)
c.1646T>A (p.Leu549Gln)
17g.46032262G>ACA500372061KANSL1c.2875C>T (p.Leu959=)
c.2872C>T (p.Leu958=)
c.2683C>T (p.Leu895=)
n.703C>T
n.823C>T
c.532C>T (p.Leu178=)
c.2686C>T (p.Leu896=)
n.292C>T
c.2838-95C>T (n.2838-95C>T)
n.7092C>T
n.261C>T
n.305C>T
n.847C>T
c.2773C>T (p.Leu925=)
c.1645C>T (p.Leu549=)
dbSNP gnomAD v3 gnomAD v4
17g.46032262G>CCA399987292KANSL1c.2875C>G (p.Leu959Val)
c.2872C>G (p.Leu958Val)
c.2683C>G (p.Leu895Val)
n.703C>G
n.823C>G
c.532C>G (p.Leu178Val)
c.2686C>G (p.Leu896Val)
n.292C>G
c.2838-95C>G (n.2838-95C>G)
n.7092C>G
n.261C>G
n.305C>G
n.847C>G
c.2773C>G (p.Leu925Val)
c.1645C>G (p.Leu549Val)
17g.46032262G=CA2262111072KANSL1c.2875C= (p.Leu959=)
c.2872C= (p.Leu958=)
c.2683C= (p.Leu895=)
n.703C=
n.823C=
c.532C= (p.Leu178=)
c.2686C= (p.Leu896=)
n.292C=
c.2838-95C= (n.2838-95C=)
n.7092C=
n.261C=
n.305C=
n.847C=
c.2773C= (p.Leu925=)
c.1645C= (p.Leu549=)
17g.46032262G>TCA399987293KANSL1c.2875C>A (p.Leu959Met)
c.2872C>A (p.Leu958Met)
c.2683C>A (p.Leu895Met)
n.703C>A
n.823C>A
c.532C>A (p.Leu178Met)
c.2686C>A (p.Leu896Met)
n.292C>A
c.2838-95C>A (n.2838-95C>A)
n.7092C>A
n.261C>A
n.305C>A
n.847C>A
c.2773C>A (p.Leu925Met)
c.1645C>A (p.Leu549Met)
gnomAD v4
17g.46032263C>ACA291126018KANSL1c.2874G>T (p.Gln958His)
c.2871G>T (p.Gln957His)
c.2682G>T (p.Gln894His)
n.702G>T
n.822G>T
c.531G>T (p.Gln177His)
c.2685G>T (p.Gln895His)
n.291G>T
c.2838-96G>T (n.2838-96G>T)
n.7091G>T
n.260G>T
n.304G>T
n.846G>T
c.2772G>T (p.Gln924His)
c.1644G>T (p.Gln548His)
dbSNP gnomAD v4
17g.46032263C=CA2262111073KANSL1c.2874G= (p.Gln958=)
c.2871G= (p.Gln957=)
c.2682G= (p.Gln894=)
n.702G=
n.822G=
c.531G= (p.Gln177=)
c.2685G= (p.Gln895=)
n.291G=
c.2838-96G= (n.2838-96G=)
n.7091G=
n.260G=
n.304G=
n.846G=
c.2772G= (p.Gln924=)
c.1644G= (p.Gln548=)
17g.46032263C>GCA399987294KANSL1c.2874G>C (p.Gln958His)
c.2871G>C (p.Gln957His)
c.2682G>C (p.Gln894His)
n.702G>C
n.822G>C
c.531G>C (p.Gln177His)
c.2685G>C (p.Gln895His)
n.291G>C
c.2838-96G>C (n.2838-96G>C)
n.7091G>C
n.260G>C
n.304G>C
n.846G>C
c.2772G>C (p.Gln924His)
c.1644G>C (p.Gln548His)
gnomAD v4
17g.46032263C>TCA500372062KANSL1c.2874G>A (p.Gln958=)
c.2871G>A (p.Gln957=)
c.2682G>A (p.Gln894=)
n.702G>A
n.822G>A
c.531G>A (p.Gln177=)
c.2685G>A (p.Gln895=)
n.291G>A
c.2838-96G>A (n.2838-96G>A)
n.7091G>A
n.260G>A
n.304G>A
n.846G>A
c.2772G>A (p.Gln924=)
c.1644G>A (p.Gln548=)
ClinVar dbSNP
17g.46032264T>ACA399987295KANSL1c.2873A>T (p.Gln958Leu)
c.2870A>T (p.Gln957Leu)
c.2681A>T (p.Gln894Leu)
n.701A>T
n.821A>T
c.530A>T (p.Gln177Leu)
c.2684A>T (p.Gln895Leu)
n.290A>T
c.2838-97A>T (n.2838-97A>T)
n.7090A>T
n.259A>T
n.303A>T
n.845A>T
c.2771A>T (p.Gln924Leu)
c.1643A>T (p.Gln548Leu)
17g.46032264T>CCA399987296KANSL1c.2873A>G (p.Gln958Arg)
c.2870A>G (p.Gln957Arg)
c.2681A>G (p.Gln894Arg)
n.701A>G
n.821A>G
c.530A>G (p.Gln177Arg)
c.2684A>G (p.Gln895Arg)
n.290A>G
c.2838-97A>G (n.2838-97A>G)
n.7090A>G
n.259A>G
n.303A>G
n.845A>G
c.2771A>G (p.Gln924Arg)
c.1643A>G (p.Gln548Arg)
gnomAD v4
17g.46032264T>GCA399987297KANSL1c.2873A>C (p.Gln958Pro)
c.2870A>C (p.Gln957Pro)
c.2681A>C (p.Gln894Pro)
n.701A>C
n.821A>C
c.530A>C (p.Gln177Pro)
c.2684A>C (p.Gln895Pro)
n.290A>C
c.2838-97A>C (n.2838-97A>C)
n.7090A>C
n.259A>C
n.303A>C
n.845A>C
c.2771A>C (p.Gln924Pro)
c.1643A>C (p.Gln548Pro)
17g.46032265G>ACA8618425KANSL1c.2872C>T (p.Gln958Ter)
c.2869C>T (p.Gln957Ter)
c.2680C>T (p.Gln894Ter)
n.700C>T
n.820C>T
c.529C>T (p.Gln177Ter)
c.2683C>T (p.Gln895Ter)
n.289C>T
c.2838-98C>T (n.2838-98C>T)
n.7089C>T
n.258C>T
n.302C>T
n.844C>T
c.2770C>T (p.Gln924Ter)
c.1642C>T (p.Gln548Ter)
dbSNP ExAC gnomAD v2
17g.46032265G>CCA399987298KANSL1c.2872C>G (p.Gln958Glu)
c.2869C>G (p.Gln957Glu)
c.2680C>G (p.Gln894Glu)
n.700C>G
n.820C>G
c.529C>G (p.Gln177Glu)
c.2683C>G (p.Gln895Glu)
n.289C>G
c.2838-98C>G (n.2838-98C>G)
n.7089C>G
n.258C>G
n.302C>G
n.844C>G
c.2770C>G (p.Gln924Glu)
c.1642C>G (p.Gln548Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46032265G=CA2262111074KANSL1c.2872C= (p.Gln958=)
c.2869C= (p.Gln957=)
c.2680C= (p.Gln894=)
n.700C=
n.820C=
c.529C= (p.Gln177=)
c.2683C= (p.Gln895=)
n.289C=
c.2838-98C= (n.2838-98C=)
n.7089C=
n.258C=
n.302C=
n.844C=
c.2770C= (p.Gln924=)
c.1642C= (p.Gln548=)
17g.46032265G>TCA399987299KANSL1c.2872C>A (p.Gln958Lys)
c.2869C>A (p.Gln957Lys)
c.2680C>A (p.Gln894Lys)
n.700C>A
n.820C>A
c.529C>A (p.Gln177Lys)
c.2683C>A (p.Gln895Lys)
n.289C>A
c.2838-98C>A (n.2838-98C>A)
n.7089C>A
n.258C>A
n.302C>A
n.844C>A
c.2770C>A (p.Gln924Lys)
c.1642C>A (p.Gln548Lys)
dbSNP
17g.46032270dupCA2809640687KANSL1c.2872dup (p.Gln958ProfsTer16)
c.2869dup (p.Gln957ProfsTer16)
c.2680dup (p.Gln894ProfsTer16)
n.700dup
n.820dup
c.529dup (p.Gln177ProfsTer16)
c.2683dup (p.Gln895ProfsTer?)
n.289dup
c.2838-98dup (n.2838-98dup)
n.7089dup
n.258dup
n.302dup
n.844dup
c.2770dup (p.Gln924ProfsTer16)
c.2683dup (p.Gln895ProfsTer16)
c.1642dup (p.Gln548ProfsTer16)
17g.46032270delCA645596185KANSL1c.2872del (p.Gln958SerfsTer?)
c.2869del (p.Gln957SerfsTer?)
c.2680del (p.Gln894SerfsTer?)
n.700del
n.820del
c.529del (p.Gln177SerfsTer?)
c.2683del (p.Gln895SerfsTer?)
n.289del
c.2838-98del (n.2838-98del)
n.7089del
n.258del
n.302del
n.844del
c.2770del (p.Gln924SerfsTer?)
c.1642del (p.Gln548SerfsTer?)
gnomAD v4 COSMIC
17g.46032266G>ACA500372065KANSL1c.2871C>T (p.Pro957=)
c.2868C>T (p.Pro956=)
c.2679C>T (p.Pro893=)
n.699C>T
n.819C>T
c.528C>T (p.Pro176=)
c.2682C>T (p.Pro894=)
n.288C>T
c.2838-99C>T (n.2838-99C>T)
n.7088C>T
n.257C>T
n.301C>T
n.843C>T
c.2769C>T (p.Pro923=)
c.1641C>T (p.Pro547=)
dbSNP gnomAD v4
17g.46032266G>CCA500372063KANSL1c.2871C>G (p.Pro957=)
c.2868C>G (p.Pro956=)
c.2679C>G (p.Pro893=)
n.699C>G
n.819C>G
c.528C>G (p.Pro176=)
c.2682C>G (p.Pro894=)
n.288C>G
c.2838-99C>G (n.2838-99C>G)
n.7088C>G
n.257C>G
n.301C>G
n.843C>G
c.2769C>G (p.Pro923=)
c.1641C>G (p.Pro547=)
17g.46032266G=CA2262111075KANSL1c.2871C= (p.Pro957=)
c.2868C= (p.Pro956=)
c.2679C= (p.Pro893=)
n.699C=
n.819C=
c.528C= (p.Pro176=)
c.2682C= (p.Pro894=)
n.288C=
c.2838-99C= (n.2838-99C=)
n.7088C=
n.257C=
n.301C=
n.843C=
c.2769C= (p.Pro923=)
c.1641C= (p.Pro547=)
17g.46032266G>TCA500372064KANSL1c.2871C>A (p.Pro957=)
c.2868C>A (p.Pro956=)
c.2679C>A (p.Pro893=)
n.699C>A
n.819C>A
c.528C>A (p.Pro176=)
c.2682C>A (p.Pro894=)
n.288C>A
c.2838-99C>A (n.2838-99C>A)
n.7088C>A
n.257C>A
n.301C>A
n.843C>A
c.2769C>A (p.Pro923=)
c.1641C>A (p.Pro547=)
17g.46032267G>ACA399987300KANSL1c.2870C>T (p.Pro957Leu)
c.2867C>T (p.Pro956Leu)
c.2678C>T (p.Pro893Leu)
n.698C>T
n.818C>T
c.527C>T (p.Pro176Leu)
c.2681C>T (p.Pro894Leu)
n.287C>T
c.2838-100C>T (n.2838-100C>T)
n.7087C>T
n.256C>T
n.300C>T
n.842C>T
c.2768C>T (p.Pro923Leu)
c.1640C>T (p.Pro547Leu)
17g.46032267G>CCA399987301KANSL1c.2870C>G (p.Pro957Arg)
c.2867C>G (p.Pro956Arg)
c.2678C>G (p.Pro893Arg)
n.698C>G
n.818C>G
c.527C>G (p.Pro176Arg)
c.2681C>G (p.Pro894Arg)
n.287C>G
c.2838-100C>G (n.2838-100C>G)
n.7087C>G
n.256C>G
n.300C>G
n.842C>G
c.2768C>G (p.Pro923Arg)
c.1640C>G (p.Pro547Arg)
dbSNP
17g.46032267G=CA2262111076KANSL1c.2870C= (p.Pro957=)
c.2867C= (p.Pro956=)
c.2678C= (p.Pro893=)
n.698C=
n.818C=
c.527C= (p.Pro176=)
c.2681C= (p.Pro894=)
n.287C=
c.2838-100C= (n.2838-100C=)
n.7087C=
n.256C=
n.300C=
n.842C=
c.2768C= (p.Pro923=)
c.1640C= (p.Pro547=)
17g.46032267G>TCA399987302KANSL1c.2870C>A (p.Pro957His)
c.2867C>A (p.Pro956His)
c.2678C>A (p.Pro893His)
n.698C>A
n.818C>A
c.527C>A (p.Pro176His)
c.2681C>A (p.Pro894His)
n.287C>A
c.2838-100C>A (n.2838-100C>A)
n.7087C>A
n.256C>A
n.300C>A
n.842C>A
c.2768C>A (p.Pro923His)
c.1640C>A (p.Pro547His)
17g.46032268G>ACA399987304KANSL1c.2869C>T (p.Pro957Ser)
c.2866C>T (p.Pro956Ser)
c.2677C>T (p.Pro893Ser)
n.697C>T
n.817C>T
c.526C>T (p.Pro176Ser)
c.2680C>T (p.Pro894Ser)
n.286C>T
n.464C>T
c.2838-101C>T (n.2838-101C>T)
n.7086C>T
n.255C>T
n.299C>T
n.841C>T
c.2767C>T (p.Pro923Ser)
c.1639C>T (p.Pro547Ser)
17g.46032268G>CCA399987305KANSL1c.2869C>G (p.Pro957Ala)
c.2866C>G (p.Pro956Ala)
c.2677C>G (p.Pro893Ala)
n.697C>G
n.817C>G
c.526C>G (p.Pro176Ala)
c.2680C>G (p.Pro894Ala)
n.286C>G
n.464C>G
c.2838-101C>G (n.2838-101C>G)
n.7086C>G
n.255C>G
n.299C>G
n.841C>G
c.2767C>G (p.Pro923Ala)
c.1639C>G (p.Pro547Ala)
17g.46032268G>TCA399987303KANSL1c.2869C>A (p.Pro957Thr)
c.2866C>A (p.Pro956Thr)
c.2677C>A (p.Pro893Thr)
n.697C>A
n.817C>A
c.526C>A (p.Pro176Thr)
c.2680C>A (p.Pro894Thr)
n.286C>A
n.464C>A
c.2838-101C>A (n.2838-101C>A)
n.7086C>A
n.255C>A
n.299C>A
n.841C>A
c.2767C>A (p.Pro923Thr)
c.1639C>A (p.Pro547Thr)
17g.46032269G>ACA500372068KANSL1c.2868C>T (p.Thr956=)
c.2865C>T (p.Thr955=)
c.2676C>T (p.Thr892=)
n.696C>T
n.816C>T
c.525C>T (p.Thr175=)
c.2679C>T (p.Thr893=)
n.285C>T
n.463C>T
c.2838-102C>T (n.2838-102C>T)
n.7085C>T
n.254C>T
n.298C>T
n.840C>T
c.2766C>T (p.Thr922=)
c.1638C>T (p.Thr546=)
gnomAD v4
17g.46032269G>CCA500372067KANSL1c.2868C>G (p.Thr956=)
c.2865C>G (p.Thr955=)
c.2676C>G (p.Thr892=)
n.696C>G
n.816C>G
c.525C>G (p.Thr175=)
c.2679C>G (p.Thr893=)
n.285C>G
n.463C>G
c.2838-102C>G (n.2838-102C>G)
n.7085C>G
n.254C>G
n.298C>G
n.840C>G
c.2766C>G (p.Thr922=)
c.1638C>G (p.Thr546=)
17g.46032269G>TCA500372066KANSL1c.2868C>A (p.Thr956=)
c.2865C>A (p.Thr955=)
c.2676C>A (p.Thr892=)
n.696C>A
n.816C>A
c.525C>A (p.Thr175=)
c.2679C>A (p.Thr893=)
n.285C>A
n.463C>A
c.2838-102C>A (n.2838-102C>A)
n.7085C>A
n.254C>A
n.298C>A
n.840C>A
c.2766C>A (p.Thr922=)
c.1638C>A (p.Thr546=)
gnomAD v4
17g.46032270G>ACA399987306KANSL1c.2867C>T (p.Thr956Ile)
c.2864C>T (p.Thr955Ile)
c.2675C>T (p.Thr892Ile)
n.695C>T
n.815C>T
c.524C>T (p.Thr175Ile)
c.2678C>T (p.Thr893Ile)
n.284C>T
n.462C>T
c.2838-103C>T (n.2838-103C>T)
n.7084C>T
n.253C>T
n.297C>T
n.839C>T
c.2765C>T (p.Thr922Ile)
c.1637C>T (p.Thr546Ile)
dbSNP gnomAD v2 gnomAD v4
17g.46032270G>CCA399987307KANSL1c.2867C>G (p.Thr956Ser)
c.2864C>G (p.Thr955Ser)
c.2675C>G (p.Thr892Ser)
n.695C>G
n.815C>G
c.524C>G (p.Thr175Ser)
c.2678C>G (p.Thr893Ser)
n.284C>G
n.462C>G
c.2838-103C>G (n.2838-103C>G)
n.7084C>G
n.253C>G
n.297C>G
n.839C>G
c.2765C>G (p.Thr922Ser)
c.1637C>G (p.Thr546Ser)
gnomAD v4
17g.46032270G=CA2262111077KANSL1c.2867C= (p.Thr956=)
c.2864C= (p.Thr955=)
c.2675C= (p.Thr892=)
n.695C=
n.815C=
c.524C= (p.Thr175=)
c.2678C= (p.Thr893=)
n.284C=
n.462C=
c.2838-103C= (n.2838-103C=)
n.7084C=
n.253C=
n.297C=
n.839C=
c.2765C= (p.Thr922=)
c.1637C= (p.Thr546=)
17g.46032270G>TCA399987308KANSL1c.2867C>A (p.Thr956Asn)
c.2864C>A (p.Thr955Asn)
c.2675C>A (p.Thr892Asn)
n.695C>A
n.815C>A
c.524C>A (p.Thr175Asn)
c.2678C>A (p.Thr893Asn)
n.284C>A
n.462C>A
c.2838-103C>A (n.2838-103C>A)
n.7084C>A
n.253C>A
n.297C>A
n.839C>A
c.2765C>A (p.Thr922Asn)
c.1637C>A (p.Thr546Asn)
gnomAD v4
17g.46032271T>ACA399987309KANSL1c.2866A>T (p.Thr956Ser)
c.2863A>T (p.Thr955Ser)
c.2674A>T (p.Thr892Ser)
n.694A>T
n.814A>T
c.523A>T (p.Thr175Ser)
c.2677A>T (p.Thr893Ser)
n.283A>T
n.461A>T
c.2838-104A>T (n.2838-104A>T)
n.7083A>T
n.252A>T
n.296A>T
n.838A>T
c.2764A>T (p.Thr922Ser)
c.1636A>T (p.Thr546Ser)
17g.46032271T>CCA399987310KANSL1c.2866A>G (p.Thr956Ala)
c.2863A>G (p.Thr955Ala)
c.2674A>G (p.Thr892Ala)
n.694A>G
n.814A>G
c.523A>G (p.Thr175Ala)
c.2677A>G (p.Thr893Ala)
n.283A>G
n.461A>G
c.2838-104A>G (n.2838-104A>G)
n.7083A>G
n.252A>G
n.296A>G
n.838A>G
c.2764A>G (p.Thr922Ala)
c.1636A>G (p.Thr546Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46032271T>GCA399987311KANSL1c.2866A>C (p.Thr956Pro)
c.2863A>C (p.Thr955Pro)
c.2674A>C (p.Thr892Pro)
n.694A>C
n.814A>C
c.523A>C (p.Thr175Pro)
c.2677A>C (p.Thr893Pro)
n.283A>C
n.461A>C
c.2838-104A>C (n.2838-104A>C)
n.7083A>C
n.252A>C
n.296A>C
n.838A>C
c.2764A>C (p.Thr922Pro)
c.1636A>C (p.Thr546Pro)
17g.46032271T=CA2262111078KANSL1c.2866A= (p.Thr956=)
c.2863A= (p.Thr955=)
c.2674A= (p.Thr892=)
n.694A=
n.814A=
c.523A= (p.Thr175=)
c.2677A= (p.Thr893=)
n.283A=
n.461A=
c.2838-104A= (n.2838-104A=)
n.7083A=
n.252A=
n.296A=
n.838A=
c.2764A= (p.Thr922=)
c.1636A= (p.Thr546=)
17g.46032272T>ACA500372070KANSL1c.2865A>T (p.Thr955=)
c.2862A>T (p.Thr954=)
c.2673A>T (p.Thr891=)
n.693A>T
n.813A>T
c.522A>T (p.Thr174=)
c.2676A>T (p.Thr892=)
n.282A>T
n.460A>T
c.2838-105A>T (n.2838-105A>T)
n.7082A>T
n.251A>T
n.295A>T
n.837A>T
c.2763A>T (p.Thr921=)
c.1635A>T (p.Thr545=)
17g.46032272T>CCA8618426KANSL1c.2865A>G (p.Thr955=)
c.2862A>G (p.Thr954=)
c.2673A>G (p.Thr891=)
n.693A>G
n.813A>G
c.522A>G (p.Thr174=)
c.2676A>G (p.Thr892=)
n.282A>G
n.460A>G
c.2838-105A>G (n.2838-105A>G)
n.7082A>G
n.251A>G
n.295A>G
n.837A>G
c.2763A>G (p.Thr921=)
c.1635A>G (p.Thr545=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032272T>GCA500372069KANSL1c.2865A>C (p.Thr955=)
c.2862A>C (p.Thr954=)
c.2673A>C (p.Thr891=)
n.693A>C
n.813A>C
c.522A>C (p.Thr174=)
c.2676A>C (p.Thr892=)
n.282A>C
n.460A>C
c.2838-105A>C (n.2838-105A>C)
n.7082A>C
n.251A>C
n.295A>C
n.837A>C
c.2763A>C (p.Thr921=)
c.1635A>C (p.Thr545=)
17g.46032272T=CA2262111079KANSL1c.2865A= (p.Thr955=)
c.2862A= (p.Thr954=)
c.2673A= (p.Thr891=)
n.693A=
n.813A=
c.522A= (p.Thr174=)
c.2676A= (p.Thr892=)
n.282A=
n.460A=
c.2838-105A= (n.2838-105A=)
n.7082A=
n.251A=
n.295A=
n.837A=
c.2763A= (p.Thr921=)
c.1635A= (p.Thr545=)
17g.46032273G>ACA399987312KANSL1c.2864C>T (p.Thr955Ile)
c.2861C>T (p.Thr954Ile)
c.2672C>T (p.Thr891Ile)
n.692C>T
n.812C>T
c.521C>T (p.Thr174Ile)
c.2675C>T (p.Thr892Ile)
n.281C>T
n.459C>T
c.2838-106C>T (n.2838-106C>T)
n.7081C>T
n.250C>T
n.294C>T
n.836C>T
c.2762C>T (p.Thr921Ile)
c.1634C>T (p.Thr545Ile)
17g.46032273G>CCA399987313KANSL1c.2864C>G (p.Thr955Arg)
c.2861C>G (p.Thr954Arg)
c.2672C>G (p.Thr891Arg)
n.692C>G
n.812C>G
c.521C>G (p.Thr174Arg)
c.2675C>G (p.Thr892Arg)
n.281C>G
n.459C>G
c.2838-106C>G (n.2838-106C>G)
n.7081C>G
n.250C>G
n.294C>G
n.836C>G
c.2762C>G (p.Thr921Arg)
c.1634C>G (p.Thr545Arg)
17g.46032273G>TCA399987314KANSL1c.2864C>A (p.Thr955Lys)
c.2861C>A (p.Thr954Lys)
c.2672C>A (p.Thr891Lys)
n.692C>A
n.812C>A
c.521C>A (p.Thr174Lys)
c.2675C>A (p.Thr892Lys)
n.281C>A
n.459C>A
c.2838-106C>A (n.2838-106C>A)
n.7081C>A
n.250C>A
n.294C>A
n.836C>A
c.2762C>A (p.Thr921Lys)
c.1634C>A (p.Thr545Lys)
gnomAD v4
17g.46032274T>ACA399987315KANSL1c.2863A>T (p.Thr955Ser)
c.2860A>T (p.Thr954Ser)
c.2671A>T (p.Thr891Ser)
n.691A>T
n.811A>T
c.520A>T (p.Thr174Ser)
c.2674A>T (p.Thr892Ser)
n.280A>T
n.458A>T
c.2838-107A>T (n.2838-107A>T)
n.7080A>T
n.249A>T
n.293A>T
n.835A>T
c.2761A>T (p.Thr921Ser)
c.1633A>T (p.Thr545Ser)
17g.46032274T>CCA399987316KANSL1c.2863A>G (p.Thr955Ala)
c.2860A>G (p.Thr954Ala)
c.2671A>G (p.Thr891Ala)
n.691A>G
n.811A>G
c.520A>G (p.Thr174Ala)
c.2674A>G (p.Thr892Ala)
n.280A>G
n.458A>G
c.2838-107A>G (n.2838-107A>G)
n.7080A>G
n.249A>G
n.293A>G
n.835A>G
c.2761A>G (p.Thr921Ala)
c.1633A>G (p.Thr545Ala)
dbSNP
17g.46032274T>GCA399987317KANSL1c.2863A>C (p.Thr955Pro)
c.2860A>C (p.Thr954Pro)
c.2671A>C (p.Thr891Pro)
n.691A>C
n.811A>C
c.520A>C (p.Thr174Pro)
c.2674A>C (p.Thr892Pro)
n.280A>C
n.458A>C
c.2838-107A>C (n.2838-107A>C)
n.7080A>C
n.249A>C
n.293A>C
n.835A>C
c.2761A>C (p.Thr921Pro)
c.1633A>C (p.Thr545Pro)
17g.46032274T=CA2262111080KANSL1c.2863A= (p.Thr955=)
c.2860A= (p.Thr954=)
c.2671A= (p.Thr891=)
n.691A=
n.811A=
c.520A= (p.Thr174=)
c.2674A= (p.Thr892=)
n.280A=
n.458A=
c.2838-107A= (n.2838-107A=)
n.7080A=
n.249A=
n.293A=
n.835A=
c.2761A= (p.Thr921=)
c.1633A= (p.Thr545=)
17g.46032275C>ACA500372072KANSL1c.2862G>T (p.Arg954=)
c.2859G>T (p.Arg953=)
c.2670G>T (p.Arg890=)
n.690G>T
n.810G>T
c.519G>T (p.Arg173=)
c.2673G>T (p.Arg891=)
n.279G>T
n.457G>T
c.2838-108G>T (n.2838-108G>T)
n.7079G>T
n.248G>T
n.292G>T
n.834G>T
c.2760G>T (p.Arg920=)
c.1632G>T (p.Arg544=)
17g.46032275C>GCA500372073KANSL1c.2862G>C (p.Arg954=)
c.2859G>C (p.Arg953=)
c.2670G>C (p.Arg890=)
n.690G>C
n.810G>C
c.519G>C (p.Arg173=)
c.2673G>C (p.Arg891=)
n.279G>C
n.457G>C
c.2838-108G>C (n.2838-108G>C)
n.7079G>C
n.248G>C
n.292G>C
n.834G>C
c.2760G>C (p.Arg920=)
c.1632G>C (p.Arg544=)
17g.46032275C>TCA500372071KANSL1c.2862G>A (p.Arg954=)
c.2859G>A (p.Arg953=)
c.2670G>A (p.Arg890=)
n.690G>A
n.810G>A
c.519G>A (p.Arg173=)
c.2673G>A (p.Arg891=)
n.279G>A
n.457G>A
c.2838-108G>A (n.2838-108G>A)
n.7079G>A
n.248G>A
n.292G>A
n.834G>A
c.2760G>A (p.Arg920=)
c.1632G>A (p.Arg544=)
gnomAD v4
17g.46032276C>ACA399987319KANSL1c.2861G>T (p.Arg954Leu)
c.2858G>T (p.Arg953Leu)
c.2669G>T (p.Arg890Leu)
n.689G>T
n.809G>T
c.518G>T (p.Arg173Leu)
c.2672G>T (p.Arg891Leu)
n.278G>T
n.456G>T
c.2838-109G>T (n.2838-109G>T)
n.7078G>T
n.247G>T
n.291G>T
n.833G>T
c.2759G>T (p.Arg920Leu)
c.1631G>T (p.Arg544Leu)
17g.46032276C=CA2262111081KANSL1c.2861G= (p.Arg954=)
c.2858G= (p.Arg953=)
c.2669G= (p.Arg890=)
n.689G=
n.809G=
c.518G= (p.Arg173=)
c.2672G= (p.Arg891=)
n.278G=
n.456G=
c.2838-109G= (n.2838-109G=)
n.7078G=
n.247G=
n.291G=
n.833G=
c.2759G= (p.Arg920=)
c.1631G= (p.Arg544=)
17g.46032276C>GCA399987318KANSL1c.2861G>C (p.Arg954Pro)
c.2858G>C (p.Arg953Pro)
c.2669G>C (p.Arg890Pro)
n.689G>C
n.809G>C
c.518G>C (p.Arg173Pro)
c.2672G>C (p.Arg891Pro)
n.278G>C
n.456G>C
c.2838-109G>C (n.2838-109G>C)
n.7078G>C
n.247G>C
n.291G>C
n.833G>C
c.2759G>C (p.Arg920Pro)
c.1631G>C (p.Arg544Pro)
17g.46032276C>TCA8618427KANSL1c.2861G>A (p.Arg954Gln)
c.2858G>A (p.Arg953Gln)
c.2669G>A (p.Arg890Gln)
n.689G>A
n.809G>A
c.518G>A (p.Arg173Gln)
c.2672G>A (p.Arg891Gln)
n.278G>A
n.456G>A
c.2838-109G>A (n.2838-109G>A)
n.7078G>A
n.247G>A
n.291G>A
n.833G>A
c.2759G>A (p.Arg920Gln)
c.1631G>A (p.Arg544Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.46032277G>ACA399987320KANSL1c.2860C>T (p.Arg954Trp)
c.2857C>T (p.Arg953Trp)
c.2668C>T (p.Arg890Trp)
n.688C>T
n.808C>T
c.517C>T (p.Arg173Trp)
c.2671C>T (p.Arg891Trp)
n.277C>T
n.455C>T
c.2838-110C>T (n.2838-110C>T)
n.7077C>T
n.246C>T
n.290C>T
n.832C>T
c.2758C>T (p.Arg920Trp)
c.1630C>T (p.Arg544Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.46032277G>CCA399987321KANSL1c.2860C>G (p.Arg954Gly)
c.2857C>G (p.Arg953Gly)
c.2668C>G (p.Arg890Gly)
n.688C>G
n.808C>G
c.517C>G (p.Arg173Gly)
c.2671C>G (p.Arg891Gly)
n.277C>G
n.455C>G
c.2838-110C>G (n.2838-110C>G)
n.7077C>G
n.246C>G
n.290C>G
n.832C>G
c.2758C>G (p.Arg920Gly)
c.1630C>G (p.Arg544Gly)
17g.46032277G=CA2262111082KANSL1c.2860C= (p.Arg954=)
c.2857C= (p.Arg953=)
c.2668C= (p.Arg890=)
n.688C=
n.808C=
c.517C= (p.Arg173=)
c.2671C= (p.Arg891=)
n.277C=
n.455C=
c.2838-110C= (n.2838-110C=)
n.7077C=
n.246C=
n.290C=
n.832C=
c.2758C= (p.Arg920=)
c.1630C= (p.Arg544=)
17g.46032277G>TCA500372074KANSL1c.2860C>A (p.Arg954=)
c.2857C>A (p.Arg953=)
c.2668C>A (p.Arg890=)
n.688C>A
n.808C>A
c.517C>A (p.Arg173=)
c.2671C>A (p.Arg891=)
n.277C>A
n.455C>A
c.2838-110C>A (n.2838-110C>A)
n.7077C>A
n.246C>A
n.290C>A
n.832C>A
c.2758C>A (p.Arg920=)
c.1630C>A (p.Arg544=)
gnomAD v4
17g.46032278G>ACA500372077KANSL1c.2859C>T (p.Gly953=)
c.2856C>T (p.Gly952=)
c.2667C>T (p.Gly889=)
n.687C>T
n.807C>T
c.516C>T (p.Gly172=)
c.2670C>T (p.Gly890=)
n.276C>T
n.454C>T
c.2838-111C>T (n.2838-111C>T)
n.7076C>T
n.245C>T
n.289C>T
n.831C>T
c.2757C>T (p.Gly919=)
c.1629C>T (p.Gly543=)
dbSNP gnomAD v4
17g.46032278G>CCA500372075KANSL1c.2859C>G (p.Gly953=)
c.2856C>G (p.Gly952=)
c.2667C>G (p.Gly889=)
n.687C>G
n.807C>G
c.516C>G (p.Gly172=)
c.2670C>G (p.Gly890=)
n.276C>G
n.454C>G
c.2838-111C>G (n.2838-111C>G)
n.7076C>G
n.245C>G
n.289C>G
n.831C>G
c.2757C>G (p.Gly919=)
c.1629C>G (p.Gly543=)
17g.46032278G=CA2262111083KANSL1c.2859C= (p.Gly953=)
c.2856C= (p.Gly952=)
c.2667C= (p.Gly889=)
n.687C=
n.807C=
c.516C= (p.Gly172=)
c.2670C= (p.Gly890=)
n.276C=
n.454C=
c.2838-111C= (n.2838-111C=)
n.7076C=
n.245C=
n.289C=
n.831C=
c.2757C= (p.Gly919=)
c.1629C= (p.Gly543=)
17g.46032278G>TCA500372076KANSL1c.2859C>A (p.Gly953=)
c.2856C>A (p.Gly952=)
c.2667C>A (p.Gly889=)
n.687C>A
n.807C>A
c.516C>A (p.Gly172=)
c.2670C>A (p.Gly890=)
n.276C>A
n.454C>A
c.2838-111C>A (n.2838-111C>A)
n.7076C>A
n.245C>A
n.289C>A
n.831C>A
c.2757C>A (p.Gly919=)
c.1629C>A (p.Gly543=)
gnomAD v4
17g.46032279C>ACA399987322KANSL1c.2858G>T (p.Gly953Val)
c.2855G>T (p.Gly952Val)
c.2666G>T (p.Gly889Val)
n.686G>T
n.806G>T
c.515G>T (p.Gly172Val)
c.2669G>T (p.Gly890Val)
n.275G>T
n.453G>T
c.2838-112G>T (n.2838-112G>T)
n.7075G>T
n.244G>T
n.288G>T
n.830G>T
c.2756G>T (p.Gly919Val)
c.1628G>T (p.Gly543Val)
gnomAD v4
17g.46032279C>GCA399987323KANSL1c.2858G>C (p.Gly953Ala)
c.2855G>C (p.Gly952Ala)
c.2666G>C (p.Gly889Ala)
n.686G>C
n.806G>C
c.515G>C (p.Gly172Ala)
c.2669G>C (p.Gly890Ala)
n.275G>C
n.453G>C
c.2838-112G>C (n.2838-112G>C)
n.7075G>C
n.244G>C
n.288G>C
n.830G>C
c.2756G>C (p.Gly919Ala)
c.1628G>C (p.Gly543Ala)
17g.46032279C>TCA399987324KANSL1c.2858G>A (p.Gly953Asp)
c.2855G>A (p.Gly952Asp)
c.2666G>A (p.Gly889Asp)
n.686G>A
n.806G>A
c.515G>A (p.Gly172Asp)
c.2669G>A (p.Gly890Asp)
n.275G>A
n.453G>A
c.2838-112G>A (n.2838-112G>A)
n.7075G>A
n.244G>A
n.288G>A
n.830G>A
c.2756G>A (p.Gly919Asp)
c.1628G>A (p.Gly543Asp)
gnomAD v4
17g.46032280C>ACA399987325KANSL1c.2857G>T (p.Gly953Cys)
c.2854G>T (p.Gly952Cys)
c.2665G>T (p.Gly889Cys)
n.685G>T
n.805G>T
c.514G>T (p.Gly172Cys)
c.2668G>T (p.Gly890Cys)
n.274G>T
n.452G>T
c.2838-113G>T (n.2838-113G>T)
n.7074G>T
n.243G>T
n.287G>T
n.829G>T
c.2755G>T (p.Gly919Cys)
c.1627G>T (p.Gly543Cys)
17g.46032280C>GCA399987326KANSL1c.2857G>C (p.Gly953Arg)
c.2854G>C (p.Gly952Arg)
c.2665G>C (p.Gly889Arg)
n.685G>C
n.805G>C
c.514G>C (p.Gly172Arg)
c.2668G>C (p.Gly890Arg)
n.274G>C
n.452G>C
c.2838-113G>C (n.2838-113G>C)
n.7074G>C
n.243G>C
n.287G>C
n.829G>C
c.2755G>C (p.Gly919Arg)
c.1627G>C (p.Gly543Arg)
17g.46032280C>TCA399987327KANSL1c.2857G>A (p.Gly953Ser)
c.2854G>A (p.Gly952Ser)
c.2665G>A (p.Gly889Ser)
n.685G>A
n.805G>A
c.514G>A (p.Gly172Ser)
c.2668G>A (p.Gly890Ser)
n.274G>A
n.452G>A
c.2838-113G>A (n.2838-113G>A)
n.7074G>A
n.243G>A
n.287G>A
n.829G>A
c.2755G>A (p.Gly919Ser)
c.1627G>A (p.Gly543Ser)
ClinVar gnomAD v4
17g.46032281G>ACA500372078KANSL1c.2856C>T (p.Asp952=)
c.2853C>T (p.Asp951=)
c.2664C>T (p.Asp888=)
n.684C>T
n.804C>T
c.513C>T (p.Asp171=)
c.2667C>T (p.Asp889=)
n.273C>T
n.451C>T
c.2838-114C>T (n.2838-114C>T)
n.7073C>T
n.242C>T
n.286C>T
n.828C>T
c.2754C>T (p.Asp918=)
c.1626C>T (p.Asp542=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46032281G>CCA399987328KANSL1c.2856C>G (p.Asp952Glu)
c.2853C>G (p.Asp951Glu)
c.2664C>G (p.Asp888Glu)
n.684C>G
n.804C>G
c.513C>G (p.Asp171Glu)
c.2667C>G (p.Asp889Glu)
n.273C>G
n.451C>G
c.2838-114C>G (n.2838-114C>G)
n.7073C>G
n.242C>G
n.286C>G
n.828C>G
c.2754C>G (p.Asp918Glu)
c.1626C>G (p.Asp542Glu)
dbSNP
17g.46032281G=CA2262111084KANSL1c.2856C= (p.Asp952=)
c.2853C= (p.Asp951=)
c.2664C= (p.Asp888=)
n.684C=
n.804C=
c.513C= (p.Asp171=)
c.2667C= (p.Asp889=)
n.273C=
n.451C=
c.2838-114C= (n.2838-114C=)
n.7073C=
n.242C=
n.286C=
n.828C=
c.2754C= (p.Asp918=)
c.1626C= (p.Asp542=)
17g.46032281G>TCA399987329KANSL1c.2856C>A (p.Asp952Glu)
c.2853C>A (p.Asp951Glu)
c.2664C>A (p.Asp888Glu)
n.684C>A
n.804C>A
c.513C>A (p.Asp171Glu)
c.2667C>A (p.Asp889Glu)
n.273C>A
n.451C>A
c.2838-114C>A (n.2838-114C>A)
n.7073C>A
n.242C>A
n.286C>A
n.828C>A
c.2754C>A (p.Asp918Glu)
c.1626C>A (p.Asp542Glu)
ClinVar dbSNP gnomAD v4
17g.46032282T>ACA399987330KANSL1c.2855A>T (p.Asp952Val)
c.2852A>T (p.Asp951Val)
c.2663A>T (p.Asp888Val)
n.683A>T
n.803A>T
c.512A>T (p.Asp171Val)
c.2666A>T (p.Asp889Val)
n.272A>T
n.450A>T
c.2838-115A>T (n.2838-115A>T)
n.7072A>T
n.241A>T
n.285A>T
n.827A>T
c.2753A>T (p.Asp918Val)
c.1625A>T (p.Asp542Val)
17g.46032282T>CCA399987331KANSL1c.2855A>G (p.Asp952Gly)
c.2852A>G (p.Asp951Gly)
c.2663A>G (p.Asp888Gly)
n.683A>G
n.803A>G
c.512A>G (p.Asp171Gly)
c.2666A>G (p.Asp889Gly)
n.272A>G
n.450A>G
c.2838-115A>G (n.2838-115A>G)
n.7072A>G
n.241A>G
n.285A>G
n.827A>G
c.2753A>G (p.Asp918Gly)
c.1625A>G (p.Asp542Gly)
17g.46032282T>GCA399987332KANSL1c.2855A>C (p.Asp952Ala)
c.2852A>C (p.Asp951Ala)
c.2663A>C (p.Asp888Ala)
n.683A>C
n.803A>C
c.512A>C (p.Asp171Ala)
c.2666A>C (p.Asp889Ala)
n.272A>C
n.450A>C
c.2838-115A>C (n.2838-115A>C)
n.7072A>C
n.241A>C
n.285A>C
n.827A>C
c.2753A>C (p.Asp918Ala)
c.1625A>C (p.Asp542Ala)
17g.46032283C>ACA399987334KANSL1c.2854G>T (p.Asp952Tyr)
c.2851G>T (p.Asp951Tyr)
c.2662G>T (p.Asp888Tyr)
n.682G>T
n.802G>T
c.511G>T (p.Asp171Tyr)
c.2665G>T (p.Asp889Tyr)
n.271G>T
n.449G>T
c.2838-116G>T (n.2838-116G>T)
n.7071G>T
n.240G>T
n.284G>T
n.826G>T
c.2752G>T (p.Asp918Tyr)
c.1624G>T (p.Asp542Tyr)
17g.46032283C>GCA399987335KANSL1c.2854G>C (p.Asp952His)
c.2851G>C (p.Asp951His)
c.2662G>C (p.Asp888His)
n.682G>C
n.802G>C
c.511G>C (p.Asp171His)
c.2665G>C (p.Asp889His)
n.271G>C
n.449G>C
c.2838-116G>C (n.2838-116G>C)
n.7071G>C
n.240G>C
n.284G>C
n.826G>C
c.2752G>C (p.Asp918His)
c.1624G>C (p.Asp542His)
17g.46032283C>TCA399987333KANSL1c.2854G>A (p.Asp952Asn)
c.2851G>A (p.Asp951Asn)
c.2662G>A (p.Asp888Asn)
n.682G>A
n.802G>A
c.511G>A (p.Asp171Asn)
c.2665G>A (p.Asp889Asn)
n.271G>A
n.449G>A
c.2838-116G>A (n.2838-116G>A)
n.7071G>A
n.240G>A
n.284G>A
n.826G>A
c.2752G>A (p.Asp918Asn)
c.1624G>A (p.Asp542Asn)

Number of alleles fetched