Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.46032144T>ACA399986659KANSL1c.2993A>T (p.His998Leu)
c.2990A>T (p.His997Leu)
c.2801A>T (p.His934Leu)
c.650A>T (p.His217Leu)
n.410A>T
c.2861A>T (p.His954Leu)
n.7210A>T
n.423A>T
n.965A>T
c.2891A>T (p.His964Leu)
c.2804A>T (p.His935Leu)
c.1763A>T (p.His588Leu)
17g.46032144T>CCA399986662KANSL1c.2993A>G (p.His998Arg)
c.2990A>G (p.His997Arg)
c.2801A>G (p.His934Arg)
c.650A>G (p.His217Arg)
n.410A>G
c.2861A>G (p.His954Arg)
n.7210A>G
n.423A>G
n.965A>G
c.2891A>G (p.His964Arg)
c.2804A>G (p.His935Arg)
c.1763A>G (p.His588Arg)
 ClinVar
17g.46032144T>GCA399986664KANSL1c.2993A>C (p.His998Pro)
c.2990A>C (p.His997Pro)
c.2801A>C (p.His934Pro)
c.650A>C (p.His217Pro)
n.410A>C
c.2861A>C (p.His954Pro)
n.7210A>C
n.423A>C
n.965A>C
c.2891A>C (p.His964Pro)
c.2804A>C (p.His935Pro)
c.1763A>C (p.His588Pro)
17g.46032145G>ACA399986668KANSL1c.2992C>T (p.His998Tyr)
c.2989C>T (p.His997Tyr)
c.2800C>T (p.His934Tyr)
c.649C>T (p.His217Tyr)
n.409C>T
c.2860C>T (p.His954Tyr)
n.7209C>T
n.422C>T
n.964C>T
c.2890C>T (p.His964Tyr)
c.2803C>T (p.His935Tyr)
c.1762C>T (p.His588Tyr)
 dbSNP gnomAD v2
17g.46032145G>CCA399986670KANSL1c.2992C>G (p.His998Asp)
c.2989C>G (p.His997Asp)
c.2800C>G (p.His934Asp)
c.649C>G (p.His217Asp)
n.409C>G
c.2860C>G (p.His954Asp)
n.7209C>G
n.422C>G
n.964C>G
c.2890C>G (p.His964Asp)
c.2803C>G (p.His935Asp)
c.1762C>G (p.His588Asp)
17g.46032145G=CA2262111022KANSL1c.2992C= (p.His998=)
c.2989C= (p.His997=)
c.2800C= (p.His934=)
c.649C= (p.His217=)
n.409C=
c.2860C= (p.His954=)
n.7209C=
n.422C=
n.964C=
c.2890C= (p.His964=)
c.2803C= (p.His935=)
c.1762C= (p.His588=)
17g.46032145G>TCA399986673KANSL1c.2992C>A (p.His998Asn)
c.2989C>A (p.His997Asn)
c.2800C>A (p.His934Asn)
c.649C>A (p.His217Asn)
n.409C>A
c.2860C>A (p.His954Asn)
n.7209C>A
n.422C>A
n.964C>A
c.2890C>A (p.His964Asn)
c.2803C>A (p.His935Asn)
c.1762C>A (p.His588Asn)
17g.46032146C>ACA500371984KANSL1c.2991G>T (p.Leu997=)
c.2988G>T (p.Leu996=)
c.2799G>T (p.Leu933=)
c.648G>T (p.Leu216=)
n.408G>T
c.2859G>T (p.Leu953=)
n.7208G>T
n.421G>T
n.963G>T
c.2889G>T (p.Leu963=)
c.2802G>T (p.Leu934=)
c.1761G>T (p.Leu587=)
17g.46032146C=CA2262111023KANSL1c.2991G= (p.Leu997=)
c.2988G= (p.Leu996=)
c.2799G= (p.Leu933=)
c.648G= (p.Leu216=)
n.408G=
c.2859G= (p.Leu953=)
n.7208G=
n.421G=
n.963G=
c.2889G= (p.Leu963=)
c.2802G= (p.Leu934=)
c.1761G= (p.Leu587=)
17g.46032146C>GCA500371985KANSL1c.2991G>C (p.Leu997=)
c.2988G>C (p.Leu996=)
c.2799G>C (p.Leu933=)
c.648G>C (p.Leu216=)
n.408G>C
c.2859G>C (p.Leu953=)
n.7208G>C
n.421G>C
n.963G>C
c.2889G>C (p.Leu963=)
c.2802G>C (p.Leu934=)
c.1761G>C (p.Leu587=)
17g.46032146C>TCA8618407KANSL1c.2991G>A (p.Leu997=)
c.2988G>A (p.Leu996=)
c.2799G>A (p.Leu933=)
c.648G>A (p.Leu216=)
n.408G>A
c.2859G>A (p.Leu953=)
n.7208G>A
n.421G>A
n.963G>A
c.2889G>A (p.Leu963=)
c.2802G>A (p.Leu934=)
c.1761G>A (p.Leu587=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032147A>CCA399986679KANSL1c.2990T>G (p.Leu997Arg)
c.2987T>G (p.Leu996Arg)
c.2798T>G (p.Leu933Arg)
c.647T>G (p.Leu216Arg)
n.407T>G
c.2858T>G (p.Leu953Arg)
n.7207T>G
n.420T>G
n.962T>G
c.2888T>G (p.Leu963Arg)
c.2801T>G (p.Leu934Arg)
c.1760T>G (p.Leu587Arg)
17g.46032147A>GCA399986681KANSL1c.2990T>C (p.Leu997Pro)
c.2987T>C (p.Leu996Pro)
c.2798T>C (p.Leu933Pro)
c.647T>C (p.Leu216Pro)
n.407T>C
c.2858T>C (p.Leu953Pro)
n.7207T>C
n.420T>C
n.962T>C
c.2888T>C (p.Leu963Pro)
c.2801T>C (p.Leu934Pro)
c.1760T>C (p.Leu587Pro)
17g.46032147A>TCA399986684KANSL1c.2990T>A (p.Leu997Gln)
c.2987T>A (p.Leu996Gln)
c.2798T>A (p.Leu933Gln)
c.647T>A (p.Leu216Gln)
n.407T>A
c.2858T>A (p.Leu953Gln)
n.7207T>A
n.420T>A
n.962T>A
c.2888T>A (p.Leu963Gln)
c.2801T>A (p.Leu934Gln)
c.1760T>A (p.Leu587Gln)
17g.46032148G>ACA500371986KANSL1c.2989C>T (p.Leu997=)
c.2986C>T (p.Leu996=)
c.2797C>T (p.Leu933=)
c.646C>T (p.Leu216=)
n.406C>T
c.2857C>T (p.Leu953=)
n.7206C>T
n.419C>T
n.961C>T
c.2887C>T (p.Leu963=)
c.2800C>T (p.Leu934=)
c.1759C>T (p.Leu587=)
 gnomAD v4
17g.46032148G>CCA399986690KANSL1c.2989C>G (p.Leu997Val)
c.2986C>G (p.Leu996Val)
c.2797C>G (p.Leu933Val)
c.646C>G (p.Leu216Val)
n.406C>G
c.2857C>G (p.Leu953Val)
n.7206C>G
n.419C>G
n.961C>G
c.2887C>G (p.Leu963Val)
c.2800C>G (p.Leu934Val)
c.1759C>G (p.Leu587Val)
 gnomAD v4
17g.46032148G>TCA399986688KANSL1c.2989C>A (p.Leu997Met)
c.2986C>A (p.Leu996Met)
c.2797C>A (p.Leu933Met)
c.646C>A (p.Leu216Met)
n.406C>A
c.2857C>A (p.Leu953Met)
n.7206C>A
n.419C>A
n.961C>A
c.2887C>A (p.Leu963Met)
c.2800C>A (p.Leu934Met)
c.1759C>A (p.Leu587Met)
17g.46032149T>ACA399986694KANSL1c.2988A>T (p.Glu996Asp)
c.2985A>T (p.Glu995Asp)
c.2796A>T (p.Glu932Asp)
c.645A>T (p.Glu215Asp)
n.405A>T
c.2856A>T (p.Glu952Asp)
n.7205A>T
n.418A>T
n.960A>T
c.2886A>T (p.Glu962Asp)
c.2799A>T (p.Glu933Asp)
c.1758A>T (p.Glu586Asp)
17g.46032149T>CCA500371987KANSL1c.2988A>G (p.Glu996=)
c.2985A>G (p.Glu995=)
c.2796A>G (p.Glu932=)
c.645A>G (p.Glu215=)
n.405A>G
c.2856A>G (p.Glu952=)
n.7205A>G
n.418A>G
n.960A>G
c.2886A>G (p.Glu962=)
c.2799A>G (p.Glu933=)
c.1758A>G (p.Glu586=)
17g.46032149T>GCA399986697KANSL1c.2988A>C (p.Glu996Asp)
c.2985A>C (p.Glu995Asp)
c.2796A>C (p.Glu932Asp)
c.645A>C (p.Glu215Asp)
n.405A>C
c.2856A>C (p.Glu952Asp)
n.7205A>C
n.418A>C
n.960A>C
c.2886A>C (p.Glu962Asp)
c.2799A>C (p.Glu933Asp)
c.1758A>C (p.Glu586Asp)
17g.46032150T>ACA399986701KANSL1c.2987A>T (p.Glu996Val)
c.2984A>T (p.Glu995Val)
c.2795A>T (p.Glu932Val)
c.644A>T (p.Glu215Val)
n.404A>T
c.2855A>T (p.Glu952Val)
n.7204A>T
n.417A>T
n.959A>T
c.2885A>T (p.Glu962Val)
c.2798A>T (p.Glu933Val)
c.1757A>T (p.Glu586Val)
17g.46032150T>CCA399986702KANSL1c.2987A>G (p.Glu996Gly)
c.2984A>G (p.Glu995Gly)
c.2795A>G (p.Glu932Gly)
c.644A>G (p.Glu215Gly)
n.404A>G
c.2855A>G (p.Glu952Gly)
n.7204A>G
n.417A>G
n.959A>G
c.2885A>G (p.Glu962Gly)
c.2798A>G (p.Glu933Gly)
c.1757A>G (p.Glu586Gly)
17g.46032150T>GCA399986706KANSL1c.2987A>C (p.Glu996Ala)
c.2984A>C (p.Glu995Ala)
c.2795A>C (p.Glu932Ala)
c.644A>C (p.Glu215Ala)
n.404A>C
c.2855A>C (p.Glu952Ala)
n.7204A>C
n.417A>C
n.959A>C
c.2885A>C (p.Glu962Ala)
c.2798A>C (p.Glu933Ala)
c.1757A>C (p.Glu586Ala)
17g.46032151C>ACA399986709KANSL1c.2986G>T (p.Glu996Ter)
c.2983G>T (p.Glu995Ter)
c.2794G>T (p.Glu932Ter)
c.643G>T (p.Glu215Ter)
n.403G>T
c.2854G>T (p.Glu952Ter)
n.7203G>T
n.416G>T
n.958G>T
c.2884G>T (p.Glu962Ter)
c.2797G>T (p.Glu933Ter)
c.1756G>T (p.Glu586Ter)
17g.46032151C>GCA399986711KANSL1c.2986G>C (p.Glu996Gln)
c.2983G>C (p.Glu995Gln)
c.2794G>C (p.Glu932Gln)
c.643G>C (p.Glu215Gln)
n.403G>C
c.2854G>C (p.Glu952Gln)
n.7203G>C
n.416G>C
n.958G>C
c.2884G>C (p.Glu962Gln)
c.2797G>C (p.Glu933Gln)
c.1756G>C (p.Glu586Gln)
17g.46032151C>TCA399986713KANSL1c.2986G>A (p.Glu996Lys)
c.2983G>A (p.Glu995Lys)
c.2794G>A (p.Glu932Lys)
c.643G>A (p.Glu215Lys)
n.403G>A
c.2854G>A (p.Glu952Lys)
n.7203G>A
n.416G>A
n.958G>A
c.2884G>A (p.Glu962Lys)
c.2797G>A (p.Glu933Lys)
c.1756G>A (p.Glu586Lys)
17g.46032152C>ACA500371989KANSL1c.2985G>T (p.Pro995=)
c.2982G>T (p.Pro994=)
c.2793G>T (p.Pro931=)
c.642G>T (p.Pro214=)
n.402G>T
c.2853G>T (p.Pro951=)
n.7202G>T
n.415G>T
n.957G>T
c.2883G>T (p.Pro961=)
c.2796G>T (p.Pro932=)
c.1755G>T (p.Pro585=)
 gnomAD v4
17g.46032152C=CA2262111024KANSL1c.2985G= (p.Pro995=)
c.2982G= (p.Pro994=)
c.2793G= (p.Pro931=)
c.642G= (p.Pro214=)
n.402G=
c.2853G= (p.Pro951=)
n.7202G=
n.415G=
n.957G=
c.2883G= (p.Pro961=)
c.2796G= (p.Pro932=)
c.1755G= (p.Pro585=)
17g.46032152C>GCA500371990KANSL1c.2985G>C (p.Pro995=)
c.2982G>C (p.Pro994=)
c.2793G>C (p.Pro931=)
c.642G>C (p.Pro214=)
n.402G>C
c.2853G>C (p.Pro951=)
n.7202G>C
n.415G>C
n.957G>C
c.2883G>C (p.Pro961=)
c.2796G>C (p.Pro932=)
c.1755G>C (p.Pro585=)
17g.46032152C>TCA8618408KANSL1c.2985G>A (p.Pro995=)
c.2982G>A (p.Pro994=)
c.2793G>A (p.Pro931=)
c.642G>A (p.Pro214=)
n.402G>A
c.2853G>A (p.Pro951=)
n.7202G>A
n.415G>A
n.957G>A
c.2883G>A (p.Pro961=)
c.2796G>A (p.Pro932=)
c.1755G>A (p.Pro585=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032153G>ACA8618409KANSL1c.2984C>T (p.Pro995Leu)
c.2981C>T (p.Pro994Leu)
c.2792C>T (p.Pro931Leu)
c.641C>T (p.Pro214Leu)
n.401C>T
c.2852C>T (p.Pro951Leu)
n.7201C>T
n.414C>T
n.956C>T
c.2882C>T (p.Pro961Leu)
c.2795C>T (p.Pro932Leu)
c.1754C>T (p.Pro585Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032153G>CCA399986720KANSL1c.2984C>G (p.Pro995Arg)
c.2981C>G (p.Pro994Arg)
c.2792C>G (p.Pro931Arg)
c.641C>G (p.Pro214Arg)
n.401C>G
c.2852C>G (p.Pro951Arg)
n.7201C>G
n.414C>G
n.956C>G
c.2882C>G (p.Pro961Arg)
c.2795C>G (p.Pro932Arg)
c.1754C>G (p.Pro585Arg)
17g.46032153G=CA2262111025KANSL1c.2984C= (p.Pro995=)
c.2981C= (p.Pro994=)
c.2792C= (p.Pro931=)
c.641C= (p.Pro214=)
n.401C=
c.2852C= (p.Pro951=)
n.7201C=
n.414C=
n.956C=
c.2882C= (p.Pro961=)
c.2795C= (p.Pro932=)
c.1754C= (p.Pro585=)
17g.46032153G>TCA399986723KANSL1c.2984C>A (p.Pro995Gln)
c.2981C>A (p.Pro994Gln)
c.2792C>A (p.Pro931Gln)
c.641C>A (p.Pro214Gln)
n.401C>A
c.2852C>A (p.Pro951Gln)
n.7201C>A
n.414C>A
n.956C>A
c.2882C>A (p.Pro961Gln)
c.2795C>A (p.Pro932Gln)
c.1754C>A (p.Pro585Gln)
17g.46032154G>ACA399986726KANSL1c.2983C>T (p.Pro995Ser)
c.2980C>T (p.Pro994Ser)
c.2791C>T (p.Pro931Ser)
c.640C>T (p.Pro214Ser)
n.400C>T
c.2851C>T (p.Pro951Ser)
n.7200C>T
n.413C>T
n.955C>T
c.2881C>T (p.Pro961Ser)
c.2794C>T (p.Pro932Ser)
c.1753C>T (p.Pro585Ser)
17g.46032154G>CCA399986727KANSL1c.2983C>G (p.Pro995Ala)
c.2980C>G (p.Pro994Ala)
c.2791C>G (p.Pro931Ala)
c.640C>G (p.Pro214Ala)
n.400C>G
c.2851C>G (p.Pro951Ala)
n.7200C>G
n.413C>G
n.955C>G
c.2881C>G (p.Pro961Ala)
c.2794C>G (p.Pro932Ala)
c.1753C>G (p.Pro585Ala)
17g.46032154G>TCA399986729KANSL1c.2983C>A (p.Pro995Thr)
c.2980C>A (p.Pro994Thr)
c.2791C>A (p.Pro931Thr)
c.640C>A (p.Pro214Thr)
n.400C>A
c.2851C>A (p.Pro951Thr)
n.7200C>A
n.413C>A
n.955C>A
c.2881C>A (p.Pro961Thr)
c.2794C>A (p.Pro932Thr)
c.1753C>A (p.Pro585Thr)
17g.46032155G>ACA500371991KANSL1c.2982C>T (p.Ser994=)
c.2979C>T (p.Ser993=)
c.2790C>T (p.Ser930=)
c.639C>T (p.Ser213=)
n.399C>T
c.2850C>T (p.Ser950=)
n.7199C>T
n.412C>T
n.954C>T
c.2880C>T (p.Ser960=)
c.2793C>T (p.Ser931=)
c.1752C>T (p.Ser584=)
17g.46032155G>CCA399986733KANSL1c.2982C>G (p.Ser994Arg)
c.2979C>G (p.Ser993Arg)
c.2790C>G (p.Ser930Arg)
c.639C>G (p.Ser213Arg)
n.399C>G
c.2850C>G (p.Ser950Arg)
n.7199C>G
n.412C>G
n.954C>G
c.2880C>G (p.Ser960Arg)
c.2793C>G (p.Ser931Arg)
c.1752C>G (p.Ser584Arg)
17g.46032155G>TCA399986736KANSL1c.2982C>A (p.Ser994Arg)
c.2979C>A (p.Ser993Arg)
c.2790C>A (p.Ser930Arg)
c.639C>A (p.Ser213Arg)
n.399C>A
c.2850C>A (p.Ser950Arg)
n.7199C>A
n.412C>A
n.954C>A
c.2880C>A (p.Ser960Arg)
c.2793C>A (p.Ser931Arg)
c.1752C>A (p.Ser584Arg)
17g.46032156C>ACA399986740KANSL1c.2981G>T (p.Ser994Ile)
c.2978G>T (p.Ser993Ile)
c.2789G>T (p.Ser930Ile)
c.638G>T (p.Ser213Ile)
n.398G>T
c.2849G>T (p.Ser950Ile)
n.7198G>T
n.411G>T
n.953G>T
c.2879G>T (p.Ser960Ile)
c.2792G>T (p.Ser931Ile)
c.1751G>T (p.Ser584Ile)
 ClinVar dbSNP gnomAD v4
17g.46032156C>GCA399986743KANSL1c.2981G>C (p.Ser994Thr)
c.2978G>C (p.Ser993Thr)
c.2789G>C (p.Ser930Thr)
c.638G>C (p.Ser213Thr)
n.398G>C
c.2849G>C (p.Ser950Thr)
n.7198G>C
n.411G>C
n.953G>C
c.2879G>C (p.Ser960Thr)
c.2792G>C (p.Ser931Thr)
c.1751G>C (p.Ser584Thr)
17g.46032156C>TCA399986746KANSL1c.2981G>A (p.Ser994Asn)
c.2978G>A (p.Ser993Asn)
c.2789G>A (p.Ser930Asn)
c.638G>A (p.Ser213Asn)
n.398G>A
c.2849G>A (p.Ser950Asn)
n.7198G>A
n.411G>A
n.953G>A
c.2879G>A (p.Ser960Asn)
c.2792G>A (p.Ser931Asn)
c.1751G>A (p.Ser584Asn)
17g.46032157T>ACA399986749KANSL1c.2980A>T (p.Ser994Cys)
c.2977A>T (p.Ser993Cys)
c.2788A>T (p.Ser930Cys)
c.637A>T (p.Ser213Cys)
n.397A>T
c.2848A>T (p.Ser950Cys)
n.7197A>T
n.410A>T
n.952A>T
c.2878A>T (p.Ser960Cys)
c.2791A>T (p.Ser931Cys)
c.1750A>T (p.Ser584Cys)
17g.46032157T>CCA399986751KANSL1c.2980A>G (p.Ser994Gly)
c.2977A>G (p.Ser993Gly)
c.2788A>G (p.Ser930Gly)
c.637A>G (p.Ser213Gly)
n.397A>G
c.2848A>G (p.Ser950Gly)
n.7197A>G
n.410A>G
n.952A>G
c.2878A>G (p.Ser960Gly)
c.2791A>G (p.Ser931Gly)
c.1750A>G (p.Ser584Gly)
 ClinVar gnomAD v4
17g.46032157T>GCA399986754KANSL1c.2980A>C (p.Ser994Arg)
c.2977A>C (p.Ser993Arg)
c.2788A>C (p.Ser930Arg)
c.637A>C (p.Ser213Arg)
n.397A>C
c.2848A>C (p.Ser950Arg)
n.7197A>C
n.410A>C
n.952A>C
c.2878A>C (p.Ser960Arg)
c.2791A>C (p.Ser931Arg)
c.1750A>C (p.Ser584Arg)
17g.46032158A>CCA399986758KANSL1c.2979T>G (p.Ile993Met)
c.2976T>G (p.Ile992Met)
c.2787T>G (p.Ile929Met)
c.636T>G (p.Ile212Met)
n.396T>G
c.2847T>G (p.Ile949Met)
n.7196T>G
n.409T>G
n.951T>G
c.2877T>G (p.Ile959Met)
c.2790T>G (p.Ile930Met)
c.1749T>G (p.Ile583Met)
17g.46032158A>GCA500371992KANSL1c.2979T>C (p.Ile993=)
c.2976T>C (p.Ile992=)
c.2787T>C (p.Ile929=)
c.636T>C (p.Ile212=)
n.396T>C
c.2847T>C (p.Ile949=)
n.7196T>C
n.409T>C
n.951T>C
c.2877T>C (p.Ile959=)
c.2790T>C (p.Ile930=)
c.1749T>C (p.Ile583=)
 gnomAD v4
17g.46032158A>TCA500371993KANSL1c.2979T>A (p.Ile993=)
c.2976T>A (p.Ile992=)
c.2787T>A (p.Ile929=)
c.636T>A (p.Ile212=)
n.396T>A
c.2847T>A (p.Ile949=)
n.7196T>A
n.409T>A
n.951T>A
c.2877T>A (p.Ile959=)
c.2790T>A (p.Ile930=)
c.1749T>A (p.Ile583=)
17g.46032159A>CCA399986762KANSL1c.2978T>G (p.Ile993Ser)
c.2975T>G (p.Ile992Ser)
c.2786T>G (p.Ile929Ser)
c.635T>G (p.Ile212Ser)
n.395T>G
c.2846T>G (p.Ile949Ser)
n.7195T>G
n.408T>G
n.950T>G
c.2876T>G (p.Ile959Ser)
c.2789T>G (p.Ile930Ser)
c.1748T>G (p.Ile583Ser)
17g.46032159A>GCA399986764KANSL1c.2978T>C (p.Ile993Thr)
c.2975T>C (p.Ile992Thr)
c.2786T>C (p.Ile929Thr)
c.635T>C (p.Ile212Thr)
n.395T>C
c.2846T>C (p.Ile949Thr)
n.7195T>C
n.408T>C
n.950T>C
c.2876T>C (p.Ile959Thr)
c.2789T>C (p.Ile930Thr)
c.1748T>C (p.Ile583Thr)
17g.46032159A>TCA399986767KANSL1c.2978T>A (p.Ile993Asn)
c.2975T>A (p.Ile992Asn)
c.2786T>A (p.Ile929Asn)
c.635T>A (p.Ile212Asn)
n.395T>A
c.2846T>A (p.Ile949Asn)
n.7195T>A
n.408T>A
n.950T>A
c.2876T>A (p.Ile959Asn)
c.2789T>A (p.Ile930Asn)
c.1748T>A (p.Ile583Asn)
17g.46032160T>ACA399986770KANSL1c.2977A>T (p.Ile993Phe)
c.2974A>T (p.Ile992Phe)
c.2785A>T (p.Ile929Phe)
c.634A>T (p.Ile212Phe)
n.394A>T
c.2845A>T (p.Ile949Phe)
n.7194A>T
n.407A>T
n.949A>T
c.2875A>T (p.Ile959Phe)
c.2788A>T (p.Ile930Phe)
c.1747A>T (p.Ile583Phe)
17g.46032160T>CCA399986772KANSL1c.2977A>G (p.Ile993Val)
c.2974A>G (p.Ile992Val)
c.2785A>G (p.Ile929Val)
c.634A>G (p.Ile212Val)
n.394A>G
c.2845A>G (p.Ile949Val)
n.7194A>G
n.407A>G
n.949A>G
c.2875A>G (p.Ile959Val)
c.2788A>G (p.Ile930Val)
c.1747A>G (p.Ile583Val)
17g.46032160T>GCA399986774KANSL1c.2977A>C (p.Ile993Leu)
c.2974A>C (p.Ile992Leu)
c.2785A>C (p.Ile929Leu)
c.634A>C (p.Ile212Leu)
n.394A>C
c.2845A>C (p.Ile949Leu)
n.7194A>C
n.407A>C
n.949A>C
c.2875A>C (p.Ile959Leu)
c.2788A>C (p.Ile930Leu)
c.1747A>C (p.Ile583Leu)
17g.46032161G>ACA500371994KANSL1c.2976C>T (p.Pro992=)
c.2973C>T (p.Pro991=)
c.2784C>T (p.Pro928=)
c.633C>T (p.Pro211=)
n.393C>T
c.2844C>T (p.Pro948=)
n.7193C>T
n.406C>T
n.948C>T
c.2874C>T (p.Pro958=)
c.2787C>T (p.Pro929=)
c.1746C>T (p.Pro582=)
17g.46032161G>CCA500371995KANSL1c.2976C>G (p.Pro992=)
c.2973C>G (p.Pro991=)
c.2784C>G (p.Pro928=)
c.633C>G (p.Pro211=)
n.393C>G
c.2844C>G (p.Pro948=)
n.7193C>G
n.406C>G
n.948C>G
c.2874C>G (p.Pro958=)
c.2787C>G (p.Pro929=)
c.1746C>G (p.Pro582=)
 gnomAD v4
17g.46032161G>TCA500371996KANSL1c.2976C>A (p.Pro992=)
c.2973C>A (p.Pro991=)
c.2784C>A (p.Pro928=)
c.633C>A (p.Pro211=)
n.393C>A
c.2844C>A (p.Pro948=)
n.7193C>A
n.406C>A
n.948C>A
c.2874C>A (p.Pro958=)
c.2787C>A (p.Pro929=)
c.1746C>A (p.Pro582=)
17g.46032162G>ACA399986777KANSL1c.2975C>T (p.Pro992Leu)
c.2972C>T (p.Pro991Leu)
c.2783C>T (p.Pro928Leu)
c.632C>T (p.Pro211Leu)
n.392C>T
c.2843C>T (p.Pro948Leu)
n.7192C>T
n.405C>T
n.947C>T
c.2873C>T (p.Pro958Leu)
c.2786C>T (p.Pro929Leu)
c.1745C>T (p.Pro582Leu)
17g.46032162G>CCA399986781KANSL1c.2975C>G (p.Pro992Arg)
c.2972C>G (p.Pro991Arg)
c.2783C>G (p.Pro928Arg)
c.632C>G (p.Pro211Arg)
n.392C>G
c.2843C>G (p.Pro948Arg)
n.7192C>G
n.405C>G
n.947C>G
c.2873C>G (p.Pro958Arg)
c.2786C>G (p.Pro929Arg)
c.1745C>G (p.Pro582Arg)
17g.46032162G>TCA399986778KANSL1c.2975C>A (p.Pro992His)
c.2972C>A (p.Pro991His)
c.2783C>A (p.Pro928His)
c.632C>A (p.Pro211His)
n.392C>A
c.2843C>A (p.Pro948His)
n.7192C>A
n.405C>A
n.947C>A
c.2873C>A (p.Pro958His)
c.2786C>A (p.Pro929His)
c.1745C>A (p.Pro582His)
17g.46032163G>ACA399986784KANSL1c.2974C>T (p.Pro992Ser)
c.2971C>T (p.Pro991Ser)
c.2782C>T (p.Pro928Ser)
c.631C>T (p.Pro211Ser)
n.391C>T
c.2842C>T (p.Pro948Ser)
n.7191C>T
n.404C>T
n.946C>T
c.2872C>T (p.Pro958Ser)
c.2785C>T (p.Pro929Ser)
c.1744C>T (p.Pro582Ser)
 dbSNP
17g.46032163G>CCA399986786KANSL1c.2974C>G (p.Pro992Ala)
c.2971C>G (p.Pro991Ala)
c.2782C>G (p.Pro928Ala)
c.631C>G (p.Pro211Ala)
n.391C>G
c.2842C>G (p.Pro948Ala)
n.7191C>G
n.404C>G
n.946C>G
c.2872C>G (p.Pro958Ala)
c.2785C>G (p.Pro929Ala)
c.1744C>G (p.Pro582Ala)
17g.46032163G=CA2262111026KANSL1c.2974C= (p.Pro992=)
c.2971C= (p.Pro991=)
c.2782C= (p.Pro928=)
c.631C= (p.Pro211=)
n.391C=
c.2842C= (p.Pro948=)
n.7191C=
n.404C=
n.946C=
c.2872C= (p.Pro958=)
c.2785C= (p.Pro929=)
c.1744C= (p.Pro582=)
17g.46032163G>TCA399986789KANSL1c.2974C>A (p.Pro992Thr)
c.2971C>A (p.Pro991Thr)
c.2782C>A (p.Pro928Thr)
c.631C>A (p.Pro211Thr)
n.391C>A
c.2842C>A (p.Pro948Thr)
n.7191C>A
n.404C>A
n.946C>A
c.2872C>A (p.Pro958Thr)
c.2785C>A (p.Pro929Thr)
c.1744C>A (p.Pro582Thr)
17g.46032164G>ACA500371997KANSL1c.2973C>T (p.Ser991=)
c.2970C>T (p.Ser990=)
c.2781C>T (p.Ser927=)
c.630C>T (p.Ser210=)
n.390C>T
c.2841C>T (p.Ser947=)
n.7190C>T
n.403C>T
n.945C>T
c.2871C>T (p.Ser957=)
c.2784C>T (p.Ser928=)
c.1743C>T (p.Ser581=)
17g.46032164G>CCA399986793KANSL1c.2973C>G (p.Ser991Arg)
c.2970C>G (p.Ser990Arg)
c.2781C>G (p.Ser927Arg)
c.630C>G (p.Ser210Arg)
n.390C>G
c.2841C>G (p.Ser947Arg)
n.7190C>G
n.403C>G
n.945C>G
c.2871C>G (p.Ser957Arg)
c.2784C>G (p.Ser928Arg)
c.1743C>G (p.Ser581Arg)
17g.46032164G>TCA399986796KANSL1c.2973C>A (p.Ser991Arg)
c.2970C>A (p.Ser990Arg)
c.2781C>A (p.Ser927Arg)
c.630C>A (p.Ser210Arg)
n.390C>A
c.2841C>A (p.Ser947Arg)
n.7190C>A
n.403C>A
n.945C>A
c.2871C>A (p.Ser957Arg)
c.2784C>A (p.Ser928Arg)
c.1743C>A (p.Ser581Arg)
17g.46032165C>ACA399986800KANSL1c.2972G>T (p.Ser991Ile)
c.2969G>T (p.Ser990Ile)
c.2780G>T (p.Ser927Ile)
c.629G>T (p.Ser210Ile)
n.389G>T
c.2840G>T (p.Ser947Ile)
n.7189G>T
n.358G>T
n.402G>T
n.944G>T
c.2870G>T (p.Ser957Ile)
c.2783G>T (p.Ser928Ile)
c.1742G>T (p.Ser581Ile)
17g.46032165C>GCA399986801KANSL1c.2972G>C (p.Ser991Thr)
c.2969G>C (p.Ser990Thr)
c.2780G>C (p.Ser927Thr)
c.629G>C (p.Ser210Thr)
n.389G>C
c.2840G>C (p.Ser947Thr)
n.7189G>C
n.358G>C
n.402G>C
n.944G>C
c.2870G>C (p.Ser957Thr)
c.2783G>C (p.Ser928Thr)
c.1742G>C (p.Ser581Thr)
17g.46032165C>TCA399986805KANSL1c.2972G>A (p.Ser991Asn)
c.2969G>A (p.Ser990Asn)
c.2780G>A (p.Ser927Asn)
c.629G>A (p.Ser210Asn)
n.389G>A
c.2840G>A (p.Ser947Asn)
n.7189G>A
n.358G>A
n.402G>A
n.944G>A
c.2870G>A (p.Ser957Asn)
c.2783G>A (p.Ser928Asn)
c.1742G>A (p.Ser581Asn)
17g.46032166T>ACA399986808KANSL1c.2971A>T (p.Ser991Cys)
c.2968A>T (p.Ser990Cys)
c.2779A>T (p.Ser927Cys)
c.628A>T (p.Ser210Cys)
n.388A>T
c.2839A>T (p.Ser947Cys)
n.7188A>T
n.357A>T
n.401A>T
n.943A>T
c.2869A>T (p.Ser957Cys)
c.2782A>T (p.Ser928Cys)
c.1741A>T (p.Ser581Cys)
17g.46032166T>CCA399986810KANSL1c.2971A>G (p.Ser991Gly)
c.2968A>G (p.Ser990Gly)
c.2779A>G (p.Ser927Gly)
c.628A>G (p.Ser210Gly)
n.388A>G
c.2839A>G (p.Ser947Gly)
n.7188A>G
n.357A>G
n.401A>G
n.943A>G
c.2869A>G (p.Ser957Gly)
c.2782A>G (p.Ser928Gly)
c.1741A>G (p.Ser581Gly)
17g.46032166T>GCA399986813KANSL1c.2971A>C (p.Ser991Arg)
c.2968A>C (p.Ser990Arg)
c.2779A>C (p.Ser927Arg)
c.628A>C (p.Ser210Arg)
n.388A>C
c.2839A>C (p.Ser947Arg)
n.7188A>C
n.357A>C
n.401A>C
n.943A>C
c.2869A>C (p.Ser957Arg)
c.2782A>C (p.Ser928Arg)
c.1741A>C (p.Ser581Arg)
17g.46032167C>ACA399986816KANSL1c.2970G>T (p.Arg990Ser)
c.2967G>T (p.Arg989Ser)
c.2778G>T (p.Arg926Ser)
c.627G>T (p.Arg209Ser)
n.387G>T
c.2838G>T (p.Arg946Ser)
n.7187G>T
n.356G>T
n.400G>T
n.942G>T
c.2868G>T (p.Arg956Ser)
c.2781G>T (p.Arg927Ser)
c.1740G>T (p.Arg580Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.46032167C=CA2262111027KANSL1c.2970G= (p.Arg990=)
c.2967G= (p.Arg989=)
c.2778G= (p.Arg926=)
c.627G= (p.Arg209=)
n.387G=
c.2838G= (p.Arg946=)
n.7187G=
n.356G=
n.400G=
n.942G=
c.2868G= (p.Arg956=)
c.2781G= (p.Arg927=)
c.1740G= (p.Arg580=)
17g.46032167C>GCA399986817KANSL1c.2970G>C (p.Arg990Ser)
c.2967G>C (p.Arg989Ser)
c.2778G>C (p.Arg926Ser)
c.627G>C (p.Arg209Ser)
n.387G>C
c.2838G>C (p.Arg946Ser)
n.7187G>C
n.356G>C
n.400G>C
n.942G>C
c.2868G>C (p.Arg956Ser)
c.2781G>C (p.Arg927Ser)
c.1740G>C (p.Arg580Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.46032167C>TCA500371998KANSL1c.2970G>A (p.Arg990=)
c.2967G>A (p.Arg989=)
c.2778G>A (p.Arg926=)
c.627G>A (p.Arg209=)
n.387G>A
c.2838G>A (p.Arg946=)
n.7187G>A
n.356G>A
n.400G>A
n.942G>A
c.2868G>A (p.Arg956=)
c.2781G>A (p.Arg927=)
c.1740G>A (p.Arg580=)
17g.46032168C>ACA399986827KANSL1c.2969G>T (p.Arg990Met)
c.2966G>T (p.Arg989Met)
c.2777G>T (p.Arg926Met)
c.626G>T (p.Arg209Met)
n.386G>T
c.2838-1G>T (n.2838-1G>T)
n.7186G>T
n.355G>T
n.399G>T
n.941G>T
c.2867G>T (p.Arg956Met)
c.2780G>T (p.Arg927Met)
c.1739G>T (p.Arg580Met)
17g.46032168C>GCA399986820KANSL1c.2969G>C (p.Arg990Thr)
c.2966G>C (p.Arg989Thr)
c.2777G>C (p.Arg926Thr)
c.626G>C (p.Arg209Thr)
n.386G>C
c.2838-1G>C (n.2838-1G>C)
n.7186G>C
n.355G>C
n.399G>C
n.941G>C
c.2867G>C (p.Arg956Thr)
c.2780G>C (p.Arg927Thr)
c.1739G>C (p.Arg580Thr)
17g.46032168C>TCA399986824KANSL1c.2969G>A (p.Arg990Lys)
c.2966G>A (p.Arg989Lys)
c.2777G>A (p.Arg926Lys)
c.626G>A (p.Arg209Lys)
n.386G>A
c.2838-1G>A (n.2838-1G>A)
n.7186G>A
n.355G>A
n.399G>A
n.941G>A
c.2867G>A (p.Arg956Lys)
c.2780G>A (p.Arg927Lys)
c.1739G>A (p.Arg580Lys)
17g.46032169T>ACA399986831KANSL1c.2968A>T (p.Arg990Trp)
c.2965A>T (p.Arg989Trp)
c.2776A>T (p.Arg926Trp)
c.625A>T (p.Arg209Trp)
n.385A>T
c.2838-2A>T (n.2838-2A>T)
n.7185A>T
n.354A>T
n.398A>T
n.940A>T
c.2866A>T (p.Arg956Trp)
c.2779A>T (p.Arg927Trp)
c.1738A>T (p.Arg580Trp)
17g.46032169T>CCA399986833KANSL1c.2968A>G (p.Arg990Gly)
c.2965A>G (p.Arg989Gly)
c.2776A>G (p.Arg926Gly)
c.625A>G (p.Arg209Gly)
n.385A>G
c.2838-2A>G (n.2838-2A>G)
n.7185A>G
n.354A>G
n.398A>G
n.940A>G
c.2866A>G (p.Arg956Gly)
c.2779A>G (p.Arg927Gly)
c.1738A>G (p.Arg580Gly)
17g.46032169T>GCA500371999KANSL1c.2968A>C (p.Arg990=)
c.2965A>C (p.Arg989=)
c.2776A>C (p.Arg926=)
c.625A>C (p.Arg209=)
n.385A>C
c.2838-2A>C (n.2838-2A>C)
n.7185A>C
n.354A>C
n.398A>C
n.940A>C
c.2866A>C (p.Arg956=)
c.2779A>C (p.Arg927=)
c.1738A>C (p.Arg580=)
17g.46032170A>CCA500372001KANSL1c.2967T>G (p.Pro989=)
c.2964T>G (p.Pro988=)
c.2775T>G (p.Pro925=)
c.624T>G (p.Pro208=)
n.384T>G
c.2838-3T>G (n.2838-3T>G)
n.7184T>G
n.353T>G
n.397T>G
n.939T>G
c.2865T>G (p.Pro955=)
c.2778T>G (p.Pro926=)
c.1737T>G (p.Pro579=)
17g.46032170A>GCA500372000KANSL1c.2967T>C (p.Pro989=)
c.2964T>C (p.Pro988=)
c.2775T>C (p.Pro925=)
c.624T>C (p.Pro208=)
n.384T>C
c.2838-3T>C (n.2838-3T>C)
n.7184T>C
n.353T>C
n.397T>C
n.939T>C
c.2865T>C (p.Pro955=)
c.2778T>C (p.Pro926=)
c.1737T>C (p.Pro579=)
17g.46032170A>TCA500372002KANSL1c.2967T>A (p.Pro989=)
c.2964T>A (p.Pro988=)
c.2775T>A (p.Pro925=)
c.624T>A (p.Pro208=)
n.384T>A
c.2838-3T>A (n.2838-3T>A)
n.7184T>A
n.353T>A
n.397T>A
n.939T>A
c.2865T>A (p.Pro955=)
c.2778T>A (p.Pro926=)
c.1737T>A (p.Pro579=)
17g.46032171G>ACA399986837KANSL1c.2966C>T (p.Pro989Leu)
c.2963C>T (p.Pro988Leu)
c.2774C>T (p.Pro925Leu)
c.623C>T (p.Pro208Leu)
n.383C>T
c.2838-4C>T (n.2838-4C>T)
n.7183C>T
n.352C>T
n.396C>T
n.938C>T
c.2864C>T (p.Pro955Leu)
c.2777C>T (p.Pro926Leu)
c.1736C>T (p.Pro579Leu)
 COSMIC
17g.46032171G>CCA399986840KANSL1c.2966C>G (p.Pro989Arg)
c.2963C>G (p.Pro988Arg)
c.2774C>G (p.Pro925Arg)
c.623C>G (p.Pro208Arg)
n.383C>G
c.2838-4C>G (n.2838-4C>G)
n.7183C>G
n.352C>G
n.396C>G
n.938C>G
c.2864C>G (p.Pro955Arg)
c.2777C>G (p.Pro926Arg)
c.1736C>G (p.Pro579Arg)
 ClinVar gnomAD v4
17g.46032171G>TCA399986842KANSL1c.2966C>A (p.Pro989His)
c.2963C>A (p.Pro988His)
c.2774C>A (p.Pro925His)
c.623C>A (p.Pro208His)
n.383C>A
c.2838-4C>A (n.2838-4C>A)
n.7183C>A
n.352C>A
n.396C>A
n.938C>A
c.2864C>A (p.Pro955His)
c.2777C>A (p.Pro926His)
c.1736C>A (p.Pro579His)
17g.46032172G>ACA399986846KANSL1c.2965C>T (p.Pro989Ser)
c.2962C>T (p.Pro988Ser)
c.2773C>T (p.Pro925Ser)
c.622C>T (p.Pro208Ser)
n.382C>T
c.2838-5C>T (n.2838-5C>T)
n.7182C>T
n.351C>T
n.395C>T
n.937C>T
c.2863C>T (p.Pro955Ser)
c.2776C>T (p.Pro926Ser)
c.1735C>T (p.Pro579Ser)
17g.46032172G>CCA399986848KANSL1c.2965C>G (p.Pro989Ala)
c.2962C>G (p.Pro988Ala)
c.2773C>G (p.Pro925Ala)
c.622C>G (p.Pro208Ala)
n.382C>G
c.2838-5C>G (n.2838-5C>G)
n.7182C>G
n.351C>G
n.395C>G
n.937C>G
c.2863C>G (p.Pro955Ala)
c.2776C>G (p.Pro926Ala)
c.1735C>G (p.Pro579Ala)
17g.46032172G=CA2262111028KANSL1c.2965C= (p.Pro989=)
c.2962C= (p.Pro988=)
c.2773C= (p.Pro925=)
c.622C= (p.Pro208=)
n.382C=
c.2838-5C= (n.2838-5C=)
n.7182C=
n.351C=
n.395C=
n.937C=
c.2863C= (p.Pro955=)
c.2776C= (p.Pro926=)
c.1735C= (p.Pro579=)
17g.46032172G>TCA399986852KANSL1c.2965C>A (p.Pro989Thr)
c.2962C>A (p.Pro988Thr)
c.2773C>A (p.Pro925Thr)
c.622C>A (p.Pro208Thr)
n.382C>A
c.2838-5C>A (n.2838-5C>A)
n.7182C>A
n.351C>A
n.395C>A
n.937C>A
c.2863C>A (p.Pro955Thr)
c.2776C>A (p.Pro926Thr)
c.1735C>A (p.Pro579Thr)
 dbSNP
17g.46032173G>ACA500372004KANSL1c.2964C>T (p.Ser988=)
c.2961C>T (p.Ser987=)
c.2772C>T (p.Ser924=)
c.621C>T (p.Ser207=)
n.381C>T
c.2838-6C>T (n.2838-6C>T)
n.7181C>T
n.350C>T
n.394C>T
n.936C>T
c.2862C>T (p.Ser954=)
c.2775C>T (p.Ser925=)
c.1734C>T (p.Ser578=)
17g.46032173G>CCA500372003KANSL1c.2964C>G (p.Ser988=)
c.2961C>G (p.Ser987=)
c.2772C>G (p.Ser924=)
c.621C>G (p.Ser207=)
n.381C>G
c.2838-6C>G (n.2838-6C>G)
n.7181C>G
n.350C>G
n.394C>G
n.936C>G
c.2862C>G (p.Ser954=)
c.2775C>G (p.Ser925=)
c.1734C>G (p.Ser578=)
17g.46032173G>TCA500372005KANSL1c.2964C>A (p.Ser988=)
c.2961C>A (p.Ser987=)
c.2772C>A (p.Ser924=)
c.621C>A (p.Ser207=)
n.381C>A
c.2838-6C>A (n.2838-6C>A)
n.7181C>A
n.350C>A
n.394C>A
n.936C>A
c.2862C>A (p.Ser954=)
c.2775C>A (p.Ser925=)
c.1734C>A (p.Ser578=)
17g.46032174G>ACA399986855KANSL1c.2963C>T (p.Ser988Phe)
c.2960C>T (p.Ser987Phe)
c.2771C>T (p.Ser924Phe)
c.620C>T (p.Ser207Phe)
n.380C>T
c.2838-7C>T (n.2838-7C>T)
n.7180C>T
n.349C>T
n.393C>T
n.935C>T
c.2861C>T (p.Ser954Phe)
c.2774C>T (p.Ser925Phe)
c.1733C>T (p.Ser578Phe)
17g.46032174G>CCA399986857KANSL1c.2963C>G (p.Ser988Cys)
c.2960C>G (p.Ser987Cys)
c.2771C>G (p.Ser924Cys)
c.620C>G (p.Ser207Cys)
n.380C>G
c.2838-7C>G (n.2838-7C>G)
n.7180C>G
n.349C>G
n.393C>G
n.935C>G
c.2861C>G (p.Ser954Cys)
c.2774C>G (p.Ser925Cys)
c.1733C>G (p.Ser578Cys)
17g.46032174G>TCA399986860KANSL1c.2963C>A (p.Ser988Tyr)
c.2960C>A (p.Ser987Tyr)
c.2771C>A (p.Ser924Tyr)
c.620C>A (p.Ser207Tyr)
n.380C>A
c.2838-7C>A (n.2838-7C>A)
n.7180C>A
n.349C>A
n.393C>A
n.935C>A
c.2861C>A (p.Ser954Tyr)
c.2774C>A (p.Ser925Tyr)
c.1733C>A (p.Ser578Tyr)
 ClinVar gnomAD v4
17g.46032175A>CCA399986865KANSL1c.2962T>G (p.Ser988Ala)
c.2959T>G (p.Ser987Ala)
c.2770T>G (p.Ser924Ala)
c.619T>G (p.Ser207Ala)
n.379T>G
c.2838-8T>G (n.2838-8T>G)
n.7179T>G
n.348T>G
n.392T>G
n.934T>G
c.2860T>G (p.Ser954Ala)
c.2773T>G (p.Ser925Ala)
c.1732T>G (p.Ser578Ala)
17g.46032175A>GCA399986870KANSL1c.2962T>C (p.Ser988Pro)
c.2959T>C (p.Ser987Pro)
c.2770T>C (p.Ser924Pro)
c.619T>C (p.Ser207Pro)
n.379T>C
c.2838-8T>C (n.2838-8T>C)
n.7179T>C
n.348T>C
n.392T>C
n.934T>C
c.2860T>C (p.Ser954Pro)
c.2773T>C (p.Ser925Pro)
c.1732T>C (p.Ser578Pro)
17g.46032175A>TCA399986867KANSL1c.2962T>A (p.Ser988Thr)
c.2959T>A (p.Ser987Thr)
c.2770T>A (p.Ser924Thr)
c.619T>A (p.Ser207Thr)
n.379T>A
c.2838-8T>A (n.2838-8T>A)
n.7179T>A
n.348T>A
n.392T>A
n.934T>A
c.2860T>A (p.Ser954Thr)
c.2773T>A (p.Ser925Thr)
c.1732T>A (p.Ser578Thr)
17g.46032176C>ACA399986882KANSL1c.2961G>T (p.Gln987His)
c.2958G>T (p.Gln986His)
c.2769G>T (p.Gln923His)
c.618G>T (p.Gln206His)
n.378G>T
c.2838-9G>T (n.2838-9G>T)
n.7178G>T
n.347G>T
n.391G>T
n.933G>T
c.2859G>T (p.Gln953His)
c.2772G>T (p.Gln924His)
c.1731G>T (p.Gln577His)
17g.46032176C>GCA399986886KANSL1c.2961G>C (p.Gln987His)
c.2958G>C (p.Gln986His)
c.2769G>C (p.Gln923His)
c.618G>C (p.Gln206His)
n.378G>C
c.2838-9G>C (n.2838-9G>C)
n.7178G>C
n.347G>C
n.391G>C
n.933G>C
c.2859G>C (p.Gln953His)
c.2772G>C (p.Gln924His)
c.1731G>C (p.Gln577His)
17g.46032176C>TCA500372006KANSL1c.2961G>A (p.Gln987=)
c.2958G>A (p.Gln986=)
c.2769G>A (p.Gln923=)
c.618G>A (p.Gln206=)
n.378G>A
c.2838-9G>A (n.2838-9G>A)
n.7178G>A
n.347G>A
n.391G>A
n.933G>A
c.2859G>A (p.Gln953=)
c.2772G>A (p.Gln924=)
c.1731G>A (p.Gln577=)
17g.46032177T>ACA399986889KANSL1c.2960A>T (p.Gln987Leu)
c.2957A>T (p.Gln986Leu)
c.2768A>T (p.Gln923Leu)
c.617A>T (p.Gln206Leu)
n.377A>T
c.2838-10A>T (n.2838-10A>T)
n.7177A>T
n.346A>T
n.390A>T
n.932A>T
c.2858A>T (p.Gln953Leu)
c.2771A>T (p.Gln924Leu)
c.1730A>T (p.Gln577Leu)
17g.46032177T>CCA399986893KANSL1c.2960A>G (p.Gln987Arg)
c.2957A>G (p.Gln986Arg)
c.2768A>G (p.Gln923Arg)
c.617A>G (p.Gln206Arg)
n.377A>G
c.2838-10A>G (n.2838-10A>G)
n.7177A>G
n.346A>G
n.390A>G
n.932A>G
c.2858A>G (p.Gln953Arg)
c.2771A>G (p.Gln924Arg)
c.1730A>G (p.Gln577Arg)
 dbSNP gnomAD v4
17g.46032177T>GCA399986895KANSL1c.2960A>C (p.Gln987Pro)
c.2957A>C (p.Gln986Pro)
c.2768A>C (p.Gln923Pro)
c.617A>C (p.Gln206Pro)
n.377A>C
c.2838-10A>C (n.2838-10A>C)
n.7177A>C
n.346A>C
n.390A>C
n.932A>C
c.2858A>C (p.Gln953Pro)
c.2771A>C (p.Gln924Pro)
c.1730A>C (p.Gln577Pro)
17g.46032177T=CA2262111029KANSL1c.2960A= (p.Gln987=)
c.2957A= (p.Gln986=)
c.2768A= (p.Gln923=)
c.617A= (p.Gln206=)
n.377A=
c.2838-10A= (n.2838-10A=)
n.7177A=
n.346A=
n.390A=
n.932A=
c.2858A= (p.Gln953=)
c.2771A= (p.Gln924=)
c.1730A= (p.Gln577=)
17g.46032178G>ACA399986899KANSL1c.2959C>T (p.Gln987Ter)
c.2956C>T (p.Gln986Ter)
c.2767C>T (p.Gln923Ter)
c.616C>T (p.Gln206Ter)
n.376C>T
c.2838-11C>T (n.2838-11C>T)
n.7176C>T
n.345C>T
n.389C>T
n.931C>T
c.2857C>T (p.Gln953Ter)
c.2770C>T (p.Gln924Ter)
c.1729C>T (p.Gln577Ter)
17g.46032178G>CCA399986902KANSL1c.2959C>G (p.Gln987Glu)
c.2956C>G (p.Gln986Glu)
c.2767C>G (p.Gln923Glu)
c.616C>G (p.Gln206Glu)
n.376C>G
c.2838-11C>G (n.2838-11C>G)
n.7176C>G
n.345C>G
n.389C>G
n.931C>G
c.2857C>G (p.Gln953Glu)
c.2770C>G (p.Gln924Glu)
c.1729C>G (p.Gln577Glu)
17g.46032178G>TCA399986903KANSL1c.2959C>A (p.Gln987Lys)
c.2956C>A (p.Gln986Lys)
c.2767C>A (p.Gln923Lys)
c.616C>A (p.Gln206Lys)
n.376C>A
c.2838-11C>A (n.2838-11C>A)
n.7176C>A
n.345C>A
n.389C>A
n.931C>A
c.2857C>A (p.Gln953Lys)
c.2770C>A (p.Gln924Lys)
c.1729C>A (p.Gln577Lys)
17g.46032179A=CA2262111030KANSL1c.2958T= (p.Gly986=)
c.2955T= (p.Gly985=)
c.2766T= (p.Gly922=)
c.615T= (p.Gly205=)
n.375T=
c.2838-12T= (n.2838-12T=)
n.7175T=
n.344T=
n.388T=
n.930T=
c.2856T= (p.Gly952=)
c.2769T= (p.Gly923=)
c.1728T= (p.Gly576=)
17g.46032179A>CCA8618410KANSL1c.2958T>G (p.Gly986=)
c.2955T>G (p.Gly985=)
c.2766T>G (p.Gly922=)
c.615T>G (p.Gly205=)
n.375T>G
c.2838-12T>G (n.2838-12T>G)
n.7175T>G
n.344T>G
n.388T>G
n.930T>G
c.2856T>G (p.Gly952=)
c.2769T>G (p.Gly923=)
c.1728T>G (p.Gly576=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032179A>GCA500372007KANSL1c.2958T>C (p.Gly986=)
c.2955T>C (p.Gly985=)
c.2766T>C (p.Gly922=)
c.615T>C (p.Gly205=)
n.375T>C
c.2838-12T>C (n.2838-12T>C)
n.7175T>C
n.344T>C
n.388T>C
n.930T>C
c.2856T>C (p.Gly952=)
c.2769T>C (p.Gly923=)
c.1728T>C (p.Gly576=)
 ClinVar dbSNP
17g.46032179A>TCA500372008KANSL1c.2958T>A (p.Gly986=)
c.2955T>A (p.Gly985=)
c.2766T>A (p.Gly922=)
c.615T>A (p.Gly205=)
n.375T>A
c.2838-12T>A (n.2838-12T>A)
n.7175T>A
n.344T>A
n.388T>A
n.930T>A
c.2856T>A (p.Gly952=)
c.2769T>A (p.Gly923=)
c.1728T>A (p.Gly576=)
17g.46032179_46032181delinsACCCA2262111031KANSL1c.2956_2958delinsGGT (p.Gly986=)
c.2953_2955delinsGGT (p.Gly985=)
c.2764_2766delinsGGT (p.Gly922=)
c.613_615delinsGGT (p.Gly205=)
n.373_375delinsGGT
c.2838-14_2838-12delinsGGT (n.2838-14_2838-12delinsGGT)
n.7173_7175delinsGGT
n.342_344delinsGGT
n.386_388delinsGGT
n.928_930delinsGGT
c.2854_2856delinsGGT (p.Gly952=)
c.2767_2769delinsGGT (p.Gly923=)
c.1726_1728delinsGGT (p.Gly576=)
17g.46032180C>ACA399986913KANSL1c.2957G>T (p.Gly986Val)
c.2954G>T (p.Gly985Val)
c.2765G>T (p.Gly922Val)
c.614G>T (p.Gly205Val)
n.374G>T
c.2838-13G>T (n.2838-13G>T)
n.7174G>T
n.343G>T
n.387G>T
n.929G>T
c.2855G>T (p.Gly952Val)
c.2768G>T (p.Gly923Val)
c.1727G>T (p.Gly576Val)
17g.46032180C=CA2262111032KANSL1c.2957G= (p.Gly986=)
c.2954G= (p.Gly985=)
c.2765G= (p.Gly922=)
c.614G= (p.Gly205=)
n.374G=
c.2838-13G= (n.2838-13G=)
n.7174G=
n.343G=
n.387G=
n.929G=
c.2855G= (p.Gly952=)
c.2768G= (p.Gly923=)
c.1727G= (p.Gly576=)
17g.46032180C>GCA291125908KANSL1c.2957G>C (p.Gly986Ala)
c.2954G>C (p.Gly985Ala)
c.2765G>C (p.Gly922Ala)
c.614G>C (p.Gly205Ala)
n.374G>C
c.2838-13G>C (n.2838-13G>C)
n.7174G>C
n.343G>C
n.387G>C
n.929G>C
c.2855G>C (p.Gly952Ala)
c.2768G>C (p.Gly923Ala)
c.1727G>C (p.Gly576Ala)
 ClinVar dbSNP gnomAD v4
17g.46032180C>TCA399986910KANSL1c.2957G>A (p.Gly986Asp)
c.2954G>A (p.Gly985Asp)
c.2765G>A (p.Gly922Asp)
c.614G>A (p.Gly205Asp)
n.374G>A
c.2838-13G>A (n.2838-13G>A)
n.7174G>A
n.343G>A
n.387G>A
n.929G>A
c.2855G>A (p.Gly952Asp)
c.2768G>A (p.Gly923Asp)
c.1727G>A (p.Gly576Asp)
17g.46032180_46032181delCA915950166KANSL1c.2956_2957del (p.Gly986SerfsTer4)
c.2953_2954del (p.Gly985SerfsTer4)
c.2764_2765del (p.Gly922SerfsTer4)
c.613_614del (p.Gly205SerfsTer4)
n.373_374del
c.2838-14_2838-13del (n.2838-14_2838-13del)
n.7173_7174del
n.342_343del
n.386_387del
n.928_929del
c.2854_2855del (p.Gly952SerfsTer4)
c.2767_2768del (p.Gly923SerfsTer4)
c.1726_1727del (p.Gly576SerfsTer4)
 ClinVar dbSNP
17g.46032181C>ACA399986915KANSL1c.2956G>T (p.Gly986Cys)
c.2953G>T (p.Gly985Cys)
c.2764G>T (p.Gly922Cys)
c.613G>T (p.Gly205Cys)
n.373G>T
c.2838-14G>T (n.2838-14G>T)
n.7173G>T
n.342G>T
n.386G>T
n.928G>T
c.2854G>T (p.Gly952Cys)
c.2767G>T (p.Gly923Cys)
c.1726G>T (p.Gly576Cys)
17g.46032181C>GCA399986917KANSL1c.2956G>C (p.Gly986Arg)
c.2953G>C (p.Gly985Arg)
c.2764G>C (p.Gly922Arg)
c.613G>C (p.Gly205Arg)
n.373G>C
c.2838-14G>C (n.2838-14G>C)
n.7173G>C
n.342G>C
n.386G>C
n.928G>C
c.2854G>C (p.Gly952Arg)
c.2767G>C (p.Gly923Arg)
c.1726G>C (p.Gly576Arg)
17g.46032181C>TCA399986923KANSL1c.2956G>A (p.Gly986Ser)
c.2953G>A (p.Gly985Ser)
c.2764G>A (p.Gly922Ser)
c.613G>A (p.Gly205Ser)
n.373G>A
c.2838-14G>A (n.2838-14G>A)
n.7173G>A
n.342G>A
n.386G>A
n.928G>A
c.2854G>A (p.Gly952Ser)
c.2767G>A (p.Gly923Ser)
c.1726G>A (p.Gly576Ser)
 ClinVar dbSNP gnomAD v4
17g.46032182A>CCA399986927KANSL1c.2955T>G (p.His985Gln)
c.2952T>G (p.His984Gln)
c.2763T>G (p.His921Gln)
c.612T>G (p.His204Gln)
n.372T>G
c.2838-15T>G (n.2838-15T>G)
n.7172T>G
n.341T>G
n.385T>G
n.927T>G
c.2853T>G (p.His951Gln)
c.2766T>G (p.His922Gln)
c.1725T>G (p.His575Gln)
17g.46032182A>GCA500372009KANSL1c.2955T>C (p.His985=)
c.2952T>C (p.His984=)
c.2763T>C (p.His921=)
c.612T>C (p.His204=)
n.372T>C
c.2838-15T>C (n.2838-15T>C)
n.7172T>C
n.341T>C
n.385T>C
n.927T>C
c.2853T>C (p.His951=)
c.2766T>C (p.His922=)
c.1725T>C (p.His575=)
 gnomAD v4
17g.46032182A>TCA399986928KANSL1c.2955T>A (p.His985Gln)
c.2952T>A (p.His984Gln)
c.2763T>A (p.His921Gln)
c.612T>A (p.His204Gln)
n.372T>A
c.2838-15T>A (n.2838-15T>A)
n.7172T>A
n.341T>A
n.385T>A
n.927T>A
c.2853T>A (p.His951Gln)
c.2766T>A (p.His922Gln)
c.1725T>A (p.His575Gln)
17g.46032183T>ACA399986936KANSL1c.2954A>T (p.His985Leu)
c.2951A>T (p.His984Leu)
c.2762A>T (p.His921Leu)
c.611A>T (p.His204Leu)
n.371A>T
c.2838-16A>T (n.2838-16A>T)
n.7171A>T
n.340A>T
n.384A>T
n.926A>T
c.2852A>T (p.His951Leu)
c.2765A>T (p.His922Leu)
c.1724A>T (p.His575Leu)
17g.46032183T>CCA8618411KANSL1c.2954A>G (p.His985Arg)
c.2951A>G (p.His984Arg)
c.2762A>G (p.His921Arg)
c.611A>G (p.His204Arg)
n.371A>G
c.2838-16A>G (n.2838-16A>G)
n.7171A>G
n.340A>G
n.384A>G
n.926A>G
c.2852A>G (p.His951Arg)
c.2765A>G (p.His922Arg)
c.1724A>G (p.His575Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46032183T>GCA399986934KANSL1c.2954A>C (p.His985Pro)
c.2951A>C (p.His984Pro)
c.2762A>C (p.His921Pro)
c.611A>C (p.His204Pro)
n.371A>C
c.2838-16A>C (n.2838-16A>C)
n.7171A>C
n.340A>C
n.384A>C
n.926A>C
c.2852A>C (p.His951Pro)
c.2765A>C (p.His922Pro)
c.1724A>C (p.His575Pro)
17g.46032183T=CA2262111033KANSL1c.2954A= (p.His985=)
c.2951A= (p.His984=)
c.2762A= (p.His921=)
c.611A= (p.His204=)
n.371A=
c.2838-16A= (n.2838-16A=)
n.7171A=
n.340A=
n.384A=
n.926A=
c.2852A= (p.His951=)
c.2765A= (p.His922=)
c.1724A= (p.His575=)
17g.46032184G>ACA399986940KANSL1c.2953C>T (p.His985Tyr)
c.2950C>T (p.His984Tyr)
c.2761C>T (p.His921Tyr)
c.610C>T (p.His204Tyr)
n.370C>T
c.2838-17C>T (n.2838-17C>T)
n.7170C>T
n.339C>T
n.383C>T
n.925C>T
c.2851C>T (p.His951Tyr)
c.2764C>T (p.His922Tyr)
c.1723C>T (p.His575Tyr)
 gnomAD v4
17g.46032184G>CCA399986941KANSL1c.2953C>G (p.His985Asp)
c.2950C>G (p.His984Asp)
c.2761C>G (p.His921Asp)
c.610C>G (p.His204Asp)
n.370C>G
c.2838-17C>G (n.2838-17C>G)
n.7170C>G
n.339C>G
n.383C>G
n.925C>G
c.2851C>G (p.His951Asp)
c.2764C>G (p.His922Asp)
c.1723C>G (p.His575Asp)
17g.46032184G>TCA399986942KANSL1c.2953C>A (p.His985Asn)
c.2950C>A (p.His984Asn)
c.2761C>A (p.His921Asn)
c.610C>A (p.His204Asn)
n.370C>A
c.2838-17C>A (n.2838-17C>A)
n.7170C>A
n.339C>A
n.383C>A
n.925C>A
c.2851C>A (p.His951Asn)
c.2764C>A (p.His922Asn)
c.1723C>A (p.His575Asn)
 gnomAD v4
17g.46032185G>ACA500372011KANSL1c.2952C>T (p.Ser984=)
c.2949C>T (p.Ser983=)
c.2760C>T (p.Ser920=)
c.609C>T (p.Ser203=)
n.369C>T
c.2838-18C>T (n.2838-18C>T)
n.7169C>T
n.338C>T
n.382C>T
n.924C>T
c.2850C>T (p.Ser950=)
c.2763C>T (p.Ser921=)
c.1722C>T (p.Ser574=)
 COSMIC
17g.46032185G>CCA8618412KANSL1c.2952C>G (p.Ser984=)
c.2949C>G (p.Ser983=)
c.2760C>G (p.Ser920=)
c.609C>G (p.Ser203=)
n.369C>G
c.2838-18C>G (n.2838-18C>G)
n.7169C>G
n.338C>G
n.382C>G
n.924C>G
c.2850C>G (p.Ser950=)
c.2763C>G (p.Ser921=)
c.1722C>G (p.Ser574=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032185G=CA2262111034KANSL1c.2952C= (p.Ser984=)
c.2949C= (p.Ser983=)
c.2760C= (p.Ser920=)
c.609C= (p.Ser203=)
n.369C=
c.2838-18C= (n.2838-18C=)
n.7169C=
n.338C=
n.382C=
n.924C=
c.2850C= (p.Ser950=)
c.2763C= (p.Ser921=)
c.1722C= (p.Ser574=)
17g.46032185G>TCA500372010KANSL1c.2952C>A (p.Ser984=)
c.2949C>A (p.Ser983=)
c.2760C>A (p.Ser920=)
c.609C>A (p.Ser203=)
n.369C>A
c.2838-18C>A (n.2838-18C>A)
n.7169C>A
n.338C>A
n.382C>A
n.924C>A
c.2850C>A (p.Ser950=)
c.2763C>A (p.Ser921=)
c.1722C>A (p.Ser574=)
17g.46032186G>ACA399986944KANSL1c.2951C>T (p.Ser984Phe)
c.2948C>T (p.Ser983Phe)
c.2759C>T (p.Ser920Phe)
n.899C>T
c.608C>T (p.Ser203Phe)
n.368C>T
c.2838-19C>T (n.2838-19C>T)
n.7168C>T
n.337C>T
n.381C>T
n.923C>T
c.2849C>T (p.Ser950Phe)
c.2762C>T (p.Ser921Phe)
c.1721C>T (p.Ser574Phe)
 COSMIC
17g.46032186G>CCA399986948KANSL1c.2951C>G (p.Ser984Cys)
c.2948C>G (p.Ser983Cys)
c.2759C>G (p.Ser920Cys)
n.899C>G
c.608C>G (p.Ser203Cys)
n.368C>G
c.2838-19C>G (n.2838-19C>G)
n.7168C>G
n.337C>G
n.381C>G
n.923C>G
c.2849C>G (p.Ser950Cys)
c.2762C>G (p.Ser921Cys)
c.1721C>G (p.Ser574Cys)
17g.46032186G=CA2262111035KANSL1c.2951C= (p.Ser984=)
c.2948C= (p.Ser983=)
c.2759C= (p.Ser920=)
n.899C=
c.608C= (p.Ser203=)
n.368C=
c.2838-19C= (n.2838-19C=)
n.7168C=
n.337C=
n.381C=
n.923C=
c.2849C= (p.Ser950=)
c.2762C= (p.Ser921=)
c.1721C= (p.Ser574=)
17g.46032186G>TCA315130KANSL1c.2951C>A (p.Ser984Tyr)
c.2948C>A (p.Ser983Tyr)
c.2759C>A (p.Ser920Tyr)
n.899C>A
c.608C>A (p.Ser203Tyr)
n.368C>A
c.2838-19C>A (n.2838-19C>A)
n.7168C>A
n.337C>A
n.381C>A
n.923C>A
c.2849C>A (p.Ser950Tyr)
c.2762C>A (p.Ser921Tyr)
c.1721C>A (p.Ser574Tyr)
 ClinVar dbSNP
17g.46032187A>CCA399986959KANSL1c.2950T>G (p.Ser984Ala)
c.2947T>G (p.Ser983Ala)
c.2758T>G (p.Ser920Ala)
n.898T>G
c.607T>G (p.Ser203Ala)
n.367T>G
c.2838-20T>G (n.2838-20T>G)
n.7167T>G
n.336T>G
n.380T>G
n.922T>G
c.2848T>G (p.Ser950Ala)
c.2761T>G (p.Ser921Ala)
c.1720T>G (p.Ser574Ala)
17g.46032187A>GCA399986962KANSL1c.2950T>C (p.Ser984Pro)
c.2947T>C (p.Ser983Pro)
c.2758T>C (p.Ser920Pro)
n.898T>C
c.607T>C (p.Ser203Pro)
n.367T>C
c.2838-20T>C (n.2838-20T>C)
n.7167T>C
n.336T>C
n.380T>C
n.922T>C
c.2848T>C (p.Ser950Pro)
c.2761T>C (p.Ser921Pro)
c.1720T>C (p.Ser574Pro)
17g.46032187A>TCA399986965KANSL1c.2950T>A (p.Ser984Thr)
c.2947T>A (p.Ser983Thr)
c.2758T>A (p.Ser920Thr)
n.898T>A
c.607T>A (p.Ser203Thr)
n.367T>A
c.2838-20T>A (n.2838-20T>A)
n.7167T>A
n.336T>A
n.380T>A
n.922T>A
c.2848T>A (p.Ser950Thr)
c.2761T>A (p.Ser921Thr)
c.1720T>A (p.Ser574Thr)
17g.46032188G>ACA291709KANSL1c.2949C>T (p.Tyr983=)
c.2946C>T (p.Tyr982=)
c.2757C>T (p.Tyr919=)
n.897C>T
c.606C>T (p.Tyr202=)
n.366C>T
c.2838-21C>T (n.2838-21C>T)
n.7166C>T
n.335C>T
n.379C>T
n.921C>T
c.2847C>T (p.Tyr949=)
c.2760C>T (p.Tyr920=)
c.1719C>T (p.Tyr573=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46032188G>CCA399986972KANSL1c.2949C>G (p.Tyr983Ter)
c.2946C>G (p.Tyr982Ter)
c.2757C>G (p.Tyr919Ter)
n.897C>G
c.606C>G (p.Tyr202Ter)
n.366C>G
c.2838-21C>G (n.2838-21C>G)
n.7166C>G
n.335C>G
n.379C>G
n.921C>G
c.2847C>G (p.Tyr949Ter)
c.2760C>G (p.Tyr920Ter)
c.1719C>G (p.Tyr573Ter)
17g.46032188G=CA2262111036KANSL1c.2949C= (p.Tyr983=)
c.2946C= (p.Tyr982=)
c.2757C= (p.Tyr919=)
n.897C=
c.606C= (p.Tyr202=)
n.366C=
c.2838-21C= (n.2838-21C=)
n.7166C=
n.335C=
n.379C=
n.921C=
c.2847C= (p.Tyr949=)
c.2760C= (p.Tyr920=)
c.1719C= (p.Tyr573=)
17g.46032188G>TCA399986975KANSL1c.2949C>A (p.Tyr983Ter)
c.2946C>A (p.Tyr982Ter)
c.2757C>A (p.Tyr919Ter)
n.897C>A
c.606C>A (p.Tyr202Ter)
n.366C>A
c.2838-21C>A (n.2838-21C>A)
n.7166C>A
n.335C>A
n.379C>A
n.921C>A
c.2847C>A (p.Tyr949Ter)
c.2760C>A (p.Tyr920Ter)
c.1719C>A (p.Tyr573Ter)
17g.46032189T>ACA399986979KANSL1c.2948A>T (p.Tyr983Phe)
c.2945A>T (p.Tyr982Phe)
c.2756A>T (p.Tyr919Phe)
n.896A>T
c.605A>T (p.Tyr202Phe)
n.365A>T
c.2838-22A>T (n.2838-22A>T)
n.7165A>T
n.334A>T
n.378A>T
n.920A>T
c.2846A>T (p.Tyr949Phe)
c.2759A>T (p.Tyr920Phe)
c.1718A>T (p.Tyr573Phe)
17g.46032189T>CCA399986982KANSL1c.2948A>G (p.Tyr983Cys)
c.2945A>G (p.Tyr982Cys)
c.2756A>G (p.Tyr919Cys)
n.896A>G
c.605A>G (p.Tyr202Cys)
n.365A>G
c.2838-22A>G (n.2838-22A>G)
n.7165A>G
n.334A>G
n.378A>G
n.920A>G
c.2846A>G (p.Tyr949Cys)
c.2759A>G (p.Tyr920Cys)
c.1718A>G (p.Tyr573Cys)
17g.46032189T>GCA399986980KANSL1c.2948A>C (p.Tyr983Ser)
c.2945A>C (p.Tyr982Ser)
c.2756A>C (p.Tyr919Ser)
n.896A>C
c.605A>C (p.Tyr202Ser)
n.365A>C
c.2838-22A>C (n.2838-22A>C)
n.7165A>C
n.334A>C
n.378A>C
n.920A>C
c.2846A>C (p.Tyr949Ser)
c.2759A>C (p.Tyr920Ser)
c.1718A>C (p.Tyr573Ser)
17g.46032190A>CCA399986985KANSL1c.2947T>G (p.Tyr983Asp)
c.2944T>G (p.Tyr982Asp)
c.2755T>G (p.Tyr919Asp)
n.895T>G
c.604T>G (p.Tyr202Asp)
n.364T>G
c.2838-23T>G (n.2838-23T>G)
n.7164T>G
n.333T>G
n.377T>G
n.919T>G
c.2845T>G (p.Tyr949Asp)
c.2758T>G (p.Tyr920Asp)
c.1717T>G (p.Tyr573Asp)
17g.46032190A>GCA399986988KANSL1c.2947T>C (p.Tyr983His)
c.2944T>C (p.Tyr982His)
c.2755T>C (p.Tyr919His)
n.895T>C
c.604T>C (p.Tyr202His)
n.364T>C
c.2838-23T>C (n.2838-23T>C)
n.7164T>C
n.333T>C
n.377T>C
n.919T>C
c.2845T>C (p.Tyr949His)
c.2758T>C (p.Tyr920His)
c.1717T>C (p.Tyr573His)
17g.46032190A>TCA399986990KANSL1c.2947T>A (p.Tyr983Asn)
c.2944T>A (p.Tyr982Asn)
c.2755T>A (p.Tyr919Asn)
n.895T>A
c.604T>A (p.Tyr202Asn)
n.364T>A
c.2838-23T>A (n.2838-23T>A)
n.7164T>A
n.333T>A
n.377T>A
n.919T>A
c.2845T>A (p.Tyr949Asn)
c.2758T>A (p.Tyr920Asn)
c.1717T>A (p.Tyr573Asn)
 gnomAD v4
17g.46032191T>ACA399986992KANSL1c.2946A>T (p.Glu982Asp)
c.2943A>T (p.Glu981Asp)
c.2754A>T (p.Glu918Asp)
n.894A>T
c.603A>T (p.Glu201Asp)
n.363A>T
c.2838-24A>T (n.2838-24A>T)
n.7163A>T
n.332A>T
n.376A>T
n.918A>T
c.2844A>T (p.Glu948Asp)
c.2757A>T (p.Glu919Asp)
c.1716A>T (p.Glu572Asp)
17g.46032191T>CCA291125919KANSL1c.2946A>G (p.Glu982=)
c.2943A>G (p.Glu981=)
c.2754A>G (p.Glu918=)
n.894A>G
c.603A>G (p.Glu201=)
n.363A>G
c.2838-24A>G (n.2838-24A>G)
n.7163A>G
n.332A>G
n.376A>G
n.918A>G
c.2844A>G (p.Glu948=)
c.2757A>G (p.Glu919=)
c.1716A>G (p.Glu572=)
 dbSNP gnomAD v2 gnomAD v4
17g.46032191T>GCA399986995KANSL1c.2946A>C (p.Glu982Asp)
c.2943A>C (p.Glu981Asp)
c.2754A>C (p.Glu918Asp)
n.894A>C
c.603A>C (p.Glu201Asp)
n.363A>C
c.2838-24A>C (n.2838-24A>C)
n.7163A>C
n.332A>C
n.376A>C
n.918A>C
c.2844A>C (p.Glu948Asp)
c.2757A>C (p.Glu919Asp)
c.1716A>C (p.Glu572Asp)
17g.46032191T=CA2262111037KANSL1c.2946A= (p.Glu982=)
c.2943A= (p.Glu981=)
c.2754A= (p.Glu918=)
n.894A=
c.603A= (p.Glu201=)
n.363A=
c.2838-24A= (n.2838-24A=)
n.7163A=
n.332A=
n.376A=
n.918A=
c.2844A= (p.Glu948=)
c.2757A= (p.Glu919=)
c.1716A= (p.Glu572=)
17g.46032192T>ACA399987003KANSL1c.2945A>T (p.Glu982Val)
c.2942A>T (p.Glu981Val)
c.2753A>T (p.Glu918Val)
n.893A>T
c.602A>T (p.Glu201Val)
n.362A>T
c.2838-25A>T (n.2838-25A>T)
n.7162A>T
n.331A>T
n.375A>T
n.917A>T
c.2843A>T (p.Glu948Val)
c.2756A>T (p.Glu919Val)
c.1715A>T (p.Glu572Val)
17g.46032192T>CCA399987000KANSL1c.2945A>G (p.Glu982Gly)
c.2942A>G (p.Glu981Gly)
c.2753A>G (p.Glu918Gly)
n.893A>G
c.602A>G (p.Glu201Gly)
n.362A>G
c.2838-25A>G (n.2838-25A>G)
n.7162A>G
n.331A>G
n.375A>G
n.917A>G
c.2843A>G (p.Glu948Gly)
c.2756A>G (p.Glu919Gly)
c.1715A>G (p.Glu572Gly)
17g.46032192T>GCA399986998KANSL1c.2945A>C (p.Glu982Ala)
c.2942A>C (p.Glu981Ala)
c.2753A>C (p.Glu918Ala)
n.893A>C
c.602A>C (p.Glu201Ala)
n.362A>C
c.2838-25A>C (n.2838-25A>C)
n.7162A>C
n.331A>C
n.375A>C
n.917A>C
c.2843A>C (p.Glu948Ala)
c.2756A>C (p.Glu919Ala)
c.1715A>C (p.Glu572Ala)
17g.46032193C>ACA399987007KANSL1c.2944G>T (p.Glu982Ter)
c.2941G>T (p.Glu981Ter)
c.2752G>T (p.Glu918Ter)
n.892G>T
c.601G>T (p.Glu201Ter)
n.361G>T
c.2838-26G>T (n.2838-26G>T)
n.7161G>T
n.330G>T
n.374G>T
n.916G>T
c.2842G>T (p.Glu948Ter)
c.2755G>T (p.Glu919Ter)
c.1714G>T (p.Glu572Ter)
17g.46032193C>GCA399987012KANSL1c.2944G>C (p.Glu982Gln)
c.2941G>C (p.Glu981Gln)
c.2752G>C (p.Glu918Gln)
n.892G>C
c.601G>C (p.Glu201Gln)
n.361G>C
c.2838-26G>C (n.2838-26G>C)
n.7161G>C
n.330G>C
n.374G>C
n.916G>C
c.2842G>C (p.Glu948Gln)
c.2755G>C (p.Glu919Gln)
c.1714G>C (p.Glu572Gln)
17g.46032193C>TCA399987013KANSL1c.2944G>A (p.Glu982Lys)
c.2941G>A (p.Glu981Lys)
c.2752G>A (p.Glu918Lys)
n.892G>A
c.601G>A (p.Glu201Lys)
n.361G>A
c.2838-26G>A (n.2838-26G>A)
n.7161G>A
n.330G>A
n.374G>A
n.916G>A
c.2842G>A (p.Glu948Lys)
c.2755G>A (p.Glu919Lys)
c.1714G>A (p.Glu572Lys)
17g.46032194T>ACA500372014KANSL1c.2943A>T (p.Ser981=)
c.2940A>T (p.Ser980=)
c.2751A>T (p.Ser917=)
n.891A>T
c.600A>T (p.Ser200=)
n.360A>T
c.2838-27A>T (n.2838-27A>T)
n.7160A>T
n.329A>T
n.373A>T
n.915A>T
c.2841A>T (p.Ser947=)
c.2754A>T (p.Ser918=)
c.1713A>T (p.Ser571=)
17g.46032194T>CCA500372015KANSL1c.2943A>G (p.Ser981=)
c.2940A>G (p.Ser980=)
c.2751A>G (p.Ser917=)
n.891A>G
c.600A>G (p.Ser200=)
n.360A>G
c.2838-27A>G (n.2838-27A>G)
n.7160A>G
n.329A>G
n.373A>G
n.915A>G
c.2841A>G (p.Ser947=)
c.2754A>G (p.Ser918=)
c.1713A>G (p.Ser571=)
17g.46032194T>GCA500372013KANSL1c.2943A>C (p.Ser981=)
c.2940A>C (p.Ser980=)
c.2751A>C (p.Ser917=)
n.891A>C
c.600A>C (p.Ser200=)
n.360A>C
c.2838-27A>C (n.2838-27A>C)
n.7160A>C
n.329A>C
n.373A>C
n.915A>C
c.2841A>C (p.Ser947=)
c.2754A>C (p.Ser918=)
c.1713A>C (p.Ser571=)
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)

Number of alleles fetched