| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46032140T>A | CA500371982 | KANSL1 | c.2997A>T (p.Ser999=) c.2994A>T (p.Ser998=) c.2805A>T (p.Ser935=) c.654A>T (p.Ser218=) n.414A>T c.2865A>T (p.Ser955=) n.7214A>T n.427A>T n.969A>T c.2895A>T (p.Ser965=) c.2808A>T (p.Ser936=) c.1767A>T (p.Ser589=) | |
| 17 | g.46032140T>C | CA500371980 | KANSL1 | c.2997A>G (p.Ser999=) c.2994A>G (p.Ser998=) c.2805A>G (p.Ser935=) c.654A>G (p.Ser218=) n.414A>G c.2865A>G (p.Ser955=) n.7214A>G n.427A>G n.969A>G c.2895A>G (p.Ser965=) c.2808A>G (p.Ser936=) c.1767A>G (p.Ser589=) | |
| 17 | g.46032140T>G | CA500371981 | KANSL1 | c.2997A>C (p.Ser999=) c.2994A>C (p.Ser998=) c.2805A>C (p.Ser935=) c.654A>C (p.Ser218=) n.414A>C c.2865A>C (p.Ser955=) n.7214A>C n.427A>C n.969A>C c.2895A>C (p.Ser965=) c.2808A>C (p.Ser936=) c.1767A>C (p.Ser589=) | |
| 17 | g.46032141G>A | CA399986632 | KANSL1 | c.2996C>T (p.Ser999Leu) c.2993C>T (p.Ser998Leu) c.2804C>T (p.Ser935Leu) c.653C>T (p.Ser218Leu) n.413C>T c.2864C>T (p.Ser955Leu) n.7213C>T n.426C>T n.968C>T c.2894C>T (p.Ser965Leu) c.2807C>T (p.Ser936Leu) c.1766C>T (p.Ser589Leu) | |
| 17 | g.46032141G>C | CA399986635 | KANSL1 | c.2996C>G (p.Ser999Ter) c.2993C>G (p.Ser998Ter) c.2804C>G (p.Ser935Ter) c.653C>G (p.Ser218Ter) n.413C>G c.2864C>G (p.Ser955Ter) n.7213C>G n.426C>G n.968C>G c.2894C>G (p.Ser965Ter) c.2807C>G (p.Ser936Ter) c.1766C>G (p.Ser589Ter) | COSMIC |
| 17 | g.46032141G>T | CA399986639 | KANSL1 | c.2996C>A (p.Ser999Ter) c.2993C>A (p.Ser998Ter) c.2804C>A (p.Ser935Ter) c.653C>A (p.Ser218Ter) n.413C>A c.2864C>A (p.Ser955Ter) n.7213C>A n.426C>A n.968C>A c.2894C>A (p.Ser965Ter) c.2807C>A (p.Ser936Ter) c.1766C>A (p.Ser589Ter) | |
| 17 | g.46032142A>C | CA399986649 | KANSL1 | c.2995T>G (p.Ser999Ala) c.2992T>G (p.Ser998Ala) c.2803T>G (p.Ser935Ala) c.652T>G (p.Ser218Ala) n.412T>G c.2863T>G (p.Ser955Ala) n.7212T>G n.425T>G n.967T>G c.2893T>G (p.Ser965Ala) c.2806T>G (p.Ser936Ala) c.1765T>G (p.Ser589Ala) | |
| 17 | g.46032142A>G | CA399986644 | KANSL1 | c.2995T>C (p.Ser999Pro) c.2992T>C (p.Ser998Pro) c.2803T>C (p.Ser935Pro) c.652T>C (p.Ser218Pro) n.412T>C c.2863T>C (p.Ser955Pro) n.7212T>C n.425T>C n.967T>C c.2893T>C (p.Ser965Pro) c.2806T>C (p.Ser936Pro) c.1765T>C (p.Ser589Pro) | gnomAD v4 |
| 17 | g.46032142A>T | CA399986647 | KANSL1 | c.2995T>A (p.Ser999Thr) c.2992T>A (p.Ser998Thr) c.2803T>A (p.Ser935Thr) c.652T>A (p.Ser218Thr) n.412T>A c.2863T>A (p.Ser955Thr) n.7212T>A n.425T>A n.967T>A c.2893T>A (p.Ser965Thr) c.2806T>A (p.Ser936Thr) c.1765T>A (p.Ser589Thr) | |
| 17 | g.46032143G>A | CA500371983 | KANSL1 | c.2994C>T (p.His998=) c.2991C>T (p.His997=) c.2802C>T (p.His934=) c.651C>T (p.His217=) n.411C>T c.2862C>T (p.His954=) n.7211C>T n.424C>T n.966C>T c.2892C>T (p.His964=) c.2805C>T (p.His935=) c.1764C>T (p.His588=) | ClinVar dbSNP |
| 17 | g.46032143G>C | CA399986653 | KANSL1 | c.2994C>G (p.His998Gln) c.2991C>G (p.His997Gln) c.2802C>G (p.His934Gln) c.651C>G (p.His217Gln) n.411C>G c.2862C>G (p.His954Gln) n.7211C>G n.424C>G n.966C>G c.2892C>G (p.His964Gln) c.2805C>G (p.His935Gln) c.1764C>G (p.His588Gln) | |
| 17 | g.46032143G= | CA2262111021 | KANSL1 | c.2994C= (p.His998=) c.2991C= (p.His997=) c.2802C= (p.His934=) c.651C= (p.His217=) n.411C= c.2862C= (p.His954=) n.7211C= n.424C= n.966C= c.2892C= (p.His964=) c.2805C= (p.His935=) c.1764C= (p.His588=) | |
| 17 | g.46032143G>T | CA399986656 | KANSL1 | c.2994C>A (p.His998Gln) c.2991C>A (p.His997Gln) c.2802C>A (p.His934Gln) c.651C>A (p.His217Gln) n.411C>A c.2862C>A (p.His954Gln) n.7211C>A n.424C>A n.966C>A c.2892C>A (p.His964Gln) c.2805C>A (p.His935Gln) c.1764C>A (p.His588Gln) | |
| 17 | g.46032144T>A | CA399986659 | KANSL1 | c.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) | |
| 17 | g.46032144T>C | CA399986662 | KANSL1 | c.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 |
| 17 | g.46032144T>G | CA399986664 | KANSL1 | c.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) | |
| 17 | g.46032145G>A | CA399986668 | KANSL1 | c.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 |
| 17 | g.46032145G>C | CA399986670 | KANSL1 | c.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) | |
| 17 | g.46032145G= | CA2262111022 | KANSL1 | c.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=) | |
| 17 | g.46032145G>T | CA399986673 | KANSL1 | c.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) | |
| 17 | g.46032146C>A | CA500371984 | KANSL1 | c.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=) | |
| 17 | g.46032146C= | CA2262111023 | KANSL1 | c.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=) | |
| 17 | g.46032146C>G | CA500371985 | KANSL1 | c.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=) | |
| 17 | g.46032146C>T | CA8618407 | KANSL1 | c.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 |
| 17 | g.46032147A>C | CA399986679 | KANSL1 | c.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) | |
| 17 | g.46032147A>G | CA399986681 | KANSL1 | c.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) | |
| 17 | g.46032147A>T | CA399986684 | KANSL1 | c.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) | |
| 17 | g.46032148G>A | CA500371986 | KANSL1 | c.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 |
| 17 | g.46032148G>C | CA399986690 | KANSL1 | c.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 |
| 17 | g.46032148G>T | CA399986688 | KANSL1 | c.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) | |
| 17 | g.46032149T>A | CA399986694 | KANSL1 | c.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) | |
| 17 | g.46032149T>C | CA500371987 | KANSL1 | c.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=) | |
| 17 | g.46032149T>G | CA399986697 | KANSL1 | c.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) | |
| 17 | g.46032150T>A | CA399986701 | KANSL1 | c.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) | |
| 17 | g.46032150T>C | CA399986702 | KANSL1 | c.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) | |
| 17 | g.46032150T>G | CA399986706 | KANSL1 | c.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) | |
| 17 | g.46032151C>A | CA399986709 | KANSL1 | c.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) | |
| 17 | g.46032151C>G | CA399986711 | KANSL1 | c.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) | |
| 17 | g.46032151C>T | CA399986713 | KANSL1 | c.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) | |
| 17 | g.46032152C>A | CA500371989 | KANSL1 | c.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 |
| 17 | g.46032152C= | CA2262111024 | KANSL1 | c.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=) | |
| 17 | g.46032152C>G | CA500371990 | KANSL1 | c.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=) | |
| 17 | g.46032152C>T | CA8618408 | KANSL1 | c.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 |
| 17 | g.46032153G>A | CA8618409 | KANSL1 | c.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 |
| 17 | g.46032153G>C | CA399986720 | KANSL1 | c.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) | |
| 17 | g.46032153G= | CA2262111025 | KANSL1 | c.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=) | |
| 17 | g.46032153G>T | CA399986723 | KANSL1 | c.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) | |
| 17 | g.46032154G>A | CA399986726 | KANSL1 | c.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) | |
| 17 | g.46032154G>C | CA399986727 | KANSL1 | c.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) | |
| 17 | g.46032154G>T | CA399986729 | KANSL1 | c.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) |