Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.46032081C>A | CA399986358 | KANSL1 | c.3056G>T (p.Arg1019Leu) c.3053G>T (p.Arg1018Leu) c.2864G>T (p.Arg955Leu) n.473G>T c.2924G>T (p.Arg975Leu) n.7273G>T n.486G>T n.1028G>T c.2954G>T (p.Arg985Leu) c.2867G>T (p.Arg956Leu) c.1826G>T (p.Arg609Leu) | |
17 | g.46032081C= | CA2262110994 | KANSL1 | c.3056G= (p.Arg1019=) c.3053G= (p.Arg1018=) c.2864G= (p.Arg955=) n.473G= c.2924G= (p.Arg975=) n.7273G= n.486G= n.1028G= c.2954G= (p.Arg985=) c.2867G= (p.Arg956=) c.1826G= (p.Arg609=) | |
17 | g.46032081C>G | CA399986360 | KANSL1 | c.3056G>C (p.Arg1019Pro) c.3053G>C (p.Arg1018Pro) c.2864G>C (p.Arg955Pro) n.473G>C c.2924G>C (p.Arg975Pro) n.7273G>C n.486G>C n.1028G>C c.2954G>C (p.Arg985Pro) c.2867G>C (p.Arg956Pro) c.1826G>C (p.Arg609Pro) | |
17 | g.46032081C>T | CA315227 | KANSL1 | c.3056G>A (p.Arg1019His) c.3053G>A (p.Arg1018His) c.2864G>A (p.Arg955His) n.473G>A c.2924G>A (p.Arg975His) n.7273G>A n.486G>A n.1028G>A c.2954G>A (p.Arg985His) c.2867G>A (p.Arg956His) c.1826G>A (p.Arg609His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46032082G>A | CA399986363 | KANSL1 | c.3055C>T (p.Arg1019Cys) c.3052C>T (p.Arg1018Cys) c.2863C>T (p.Arg955Cys) n.472C>T c.2923C>T (p.Arg975Cys) n.7272C>T n.485C>T n.1027C>T c.2953C>T (p.Arg985Cys) c.2866C>T (p.Arg956Cys) c.1825C>T (p.Arg609Cys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46032082G>C | CA399986365 | KANSL1 | c.3055C>G (p.Arg1019Gly) c.3052C>G (p.Arg1018Gly) c.2863C>G (p.Arg955Gly) n.472C>G c.2923C>G (p.Arg975Gly) n.7272C>G n.485C>G n.1027C>G c.2953C>G (p.Arg985Gly) c.2866C>G (p.Arg956Gly) c.1825C>G (p.Arg609Gly) | |
17 | g.46032082G= | CA2262110995 | KANSL1 | c.3055C= (p.Arg1019=) c.3052C= (p.Arg1018=) c.2863C= (p.Arg955=) n.472C= c.2923C= (p.Arg975=) n.7272C= n.485C= n.1027C= c.2953C= (p.Arg985=) c.2866C= (p.Arg956=) c.1825C= (p.Arg609=) | |
17 | g.46032082G>T | CA399986367 | KANSL1 | c.3055C>A (p.Arg1019Ser) c.3052C>A (p.Arg1018Ser) c.2863C>A (p.Arg955Ser) n.472C>A c.2923C>A (p.Arg975Ser) n.7272C>A n.485C>A n.1027C>A c.2953C>A (p.Arg985Ser) c.2866C>A (p.Arg956Ser) c.1825C>A (p.Arg609Ser) | |
17 | g.46032083G>A | CA500371937 | KANSL1 | c.3054C>T (p.Thr1018=) c.3051C>T (p.Thr1017=) c.2862C>T (p.Thr954=) n.471C>T c.2922C>T (p.Thr974=) n.7271C>T n.484C>T n.1026C>T c.2952C>T (p.Thr984=) c.2865C>T (p.Thr955=) c.1824C>T (p.Thr608=) | ClinVar dbSNP |
17 | g.46032083G>C | CA500371938 | KANSL1 | c.3054C>G (p.Thr1018=) c.3051C>G (p.Thr1017=) c.2862C>G (p.Thr954=) n.471C>G c.2922C>G (p.Thr974=) n.7271C>G n.484C>G n.1026C>G c.2952C>G (p.Thr984=) c.2865C>G (p.Thr955=) c.1824C>G (p.Thr608=) | |
17 | g.46032083G= | CA2262110996 | KANSL1 | c.3054C= (p.Thr1018=) c.3051C= (p.Thr1017=) c.2862C= (p.Thr954=) n.471C= c.2922C= (p.Thr974=) n.7271C= n.484C= n.1026C= c.2952C= (p.Thr984=) c.2865C= (p.Thr955=) c.1824C= (p.Thr608=) | |
17 | g.46032083G>T | CA500371936 | KANSL1 | c.3054C>A (p.Thr1018=) c.3051C>A (p.Thr1017=) c.2862C>A (p.Thr954=) n.471C>A c.2922C>A (p.Thr974=) n.7271C>A n.484C>A n.1026C>A c.2952C>A (p.Thr984=) c.2865C>A (p.Thr955=) c.1824C>A (p.Thr608=) | |
17 | g.46032084G>A | CA8618394 | KANSL1 | c.3053C>T (p.Thr1018Ile) c.3050C>T (p.Thr1017Ile) c.2861C>T (p.Thr954Ile) n.470C>T c.2921C>T (p.Thr974Ile) n.7270C>T n.483C>T n.1025C>T c.2951C>T (p.Thr984Ile) c.2864C>T (p.Thr955Ile) c.1823C>T (p.Thr608Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032084G>C | CA399986369 | KANSL1 | c.3053C>G (p.Thr1018Ser) c.3050C>G (p.Thr1017Ser) c.2861C>G (p.Thr954Ser) n.470C>G c.2921C>G (p.Thr974Ser) n.7270C>G n.483C>G n.1025C>G c.2951C>G (p.Thr984Ser) c.2864C>G (p.Thr955Ser) c.1823C>G (p.Thr608Ser) | |
17 | g.46032084G= | CA2262110997 | KANSL1 | c.3053C= (p.Thr1018=) c.3050C= (p.Thr1017=) c.2861C= (p.Thr954=) n.470C= c.2921C= (p.Thr974=) n.7270C= n.483C= n.1025C= c.2951C= (p.Thr984=) c.2864C= (p.Thr955=) c.1823C= (p.Thr608=) | |
17 | g.46032084G>T | CA399986371 | KANSL1 | c.3053C>A (p.Thr1018Asn) c.3050C>A (p.Thr1017Asn) c.2861C>A (p.Thr954Asn) n.470C>A c.2921C>A (p.Thr974Asn) n.7270C>A n.483C>A n.1025C>A c.2951C>A (p.Thr984Asn) c.2864C>A (p.Thr955Asn) c.1823C>A (p.Thr608Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.46032085T>A | CA399986377 | KANSL1 | c.3052A>T (p.Thr1018Ser) c.3049A>T (p.Thr1017Ser) c.2860A>T (p.Thr954Ser) n.469A>T c.2920A>T (p.Thr974Ser) n.7269A>T n.482A>T n.1024A>T c.2950A>T (p.Thr984Ser) c.2863A>T (p.Thr955Ser) c.1822A>T (p.Thr608Ser) | |
17 | g.46032085T>C | CA399986373 | KANSL1 | c.3052A>G (p.Thr1018Ala) c.3049A>G (p.Thr1017Ala) c.2860A>G (p.Thr954Ala) n.469A>G c.2920A>G (p.Thr974Ala) n.7269A>G n.482A>G n.1024A>G c.2950A>G (p.Thr984Ala) c.2863A>G (p.Thr955Ala) c.1822A>G (p.Thr608Ala) | gnomAD v4 COSMIC |
17 | g.46032085T>G | CA399986375 | KANSL1 | c.3052A>C (p.Thr1018Pro) c.3049A>C (p.Thr1017Pro) c.2860A>C (p.Thr954Pro) n.469A>C c.2920A>C (p.Thr974Pro) n.7269A>C n.482A>C n.1024A>C c.2950A>C (p.Thr984Pro) c.2863A>C (p.Thr955Pro) c.1822A>C (p.Thr608Pro) | |
17 | g.46032086A>C | CA399986379 | KANSL1 | c.3051T>G (p.Asp1017Glu) c.3048T>G (p.Asp1016Glu) c.2859T>G (p.Asp953Glu) n.468T>G c.2919T>G (p.Asp973Glu) n.7268T>G n.481T>G n.1023T>G c.2949T>G (p.Asp983Glu) c.2862T>G (p.Asp954Glu) c.1821T>G (p.Asp607Glu) | |
17 | g.46032086A>G | CA500371939 | KANSL1 | c.3051T>C (p.Asp1017=) c.3048T>C (p.Asp1016=) c.2859T>C (p.Asp953=) n.468T>C c.2919T>C (p.Asp973=) n.7268T>C n.481T>C n.1023T>C c.2949T>C (p.Asp983=) c.2862T>C (p.Asp954=) c.1821T>C (p.Asp607=) | gnomAD v4 |
17 | g.46032086A>T | CA399986381 | KANSL1 | c.3051T>A (p.Asp1017Glu) c.3048T>A (p.Asp1016Glu) c.2859T>A (p.Asp953Glu) n.468T>A c.2919T>A (p.Asp973Glu) n.7268T>A n.481T>A n.1023T>A c.2949T>A (p.Asp983Glu) c.2862T>A (p.Asp954Glu) c.1821T>A (p.Asp607Glu) | |
17 | g.46032087T>A | CA399986382 | KANSL1 | c.3050A>T (p.Asp1017Val) c.3047A>T (p.Asp1016Val) c.2858A>T (p.Asp953Val) n.467A>T c.2918A>T (p.Asp973Val) n.7267A>T n.480A>T n.1022A>T c.2948A>T (p.Asp983Val) c.2861A>T (p.Asp954Val) c.1820A>T (p.Asp607Val) | |
17 | g.46032087T>C | CA399986384 | KANSL1 | c.3050A>G (p.Asp1017Gly) c.3047A>G (p.Asp1016Gly) c.2858A>G (p.Asp953Gly) n.467A>G c.2918A>G (p.Asp973Gly) n.7267A>G n.480A>G n.1022A>G c.2948A>G (p.Asp983Gly) c.2861A>G (p.Asp954Gly) c.1820A>G (p.Asp607Gly) | gnomAD v4 |
17 | g.46032087T>G | CA399986385 | KANSL1 | c.3050A>C (p.Asp1017Ala) c.3047A>C (p.Asp1016Ala) c.2858A>C (p.Asp953Ala) n.467A>C c.2918A>C (p.Asp973Ala) n.7267A>C n.480A>C n.1022A>C c.2948A>C (p.Asp983Ala) c.2861A>C (p.Asp954Ala) c.1820A>C (p.Asp607Ala) | ClinVar dbSNP |
17 | g.46032087T= | CA2262110998 | KANSL1 | c.3050A= (p.Asp1017=) c.3047A= (p.Asp1016=) c.2858A= (p.Asp953=) n.467A= c.2918A= (p.Asp973=) n.7267A= n.480A= n.1022A= c.2948A= (p.Asp983=) c.2861A= (p.Asp954=) c.1820A= (p.Asp607=) | |
17 | g.46032088C>A | CA399986387 | KANSL1 | c.3049G>T (p.Asp1017Tyr) c.3046G>T (p.Asp1016Tyr) c.2857G>T (p.Asp953Tyr) n.466G>T c.2917G>T (p.Asp973Tyr) n.7266G>T n.479G>T n.1021G>T c.2947G>T (p.Asp983Tyr) c.2860G>T (p.Asp954Tyr) c.1819G>T (p.Asp607Tyr) | |
17 | g.46032088C>G | CA399986389 | KANSL1 | c.3049G>C (p.Asp1017His) c.3046G>C (p.Asp1016His) c.2857G>C (p.Asp953His) n.466G>C c.2917G>C (p.Asp973His) n.7266G>C n.479G>C n.1021G>C c.2947G>C (p.Asp983His) c.2860G>C (p.Asp954His) c.1819G>C (p.Asp607His) | |
17 | g.46032088C>T | CA399986391 | KANSL1 | c.3049G>A (p.Asp1017Asn) c.3046G>A (p.Asp1016Asn) c.2857G>A (p.Asp953Asn) n.466G>A c.2917G>A (p.Asp973Asn) n.7266G>A n.479G>A n.1021G>A c.2947G>A (p.Asp983Asn) c.2860G>A (p.Asp954Asn) c.1819G>A (p.Asp607Asn) | |
17 | g.46032089dup | CA1139665659 | KANSL1 | c.3049dup (p.Asp1017GlyfsTer13) c.3046dup (p.Asp1016GlyfsTer13) c.2857dup (p.Asp953GlyfsTer13) n.466dup c.2917dup (p.Asp973GlyfsTer13) n.7266dup n.479dup n.1021dup c.2947dup (p.Asp983GlyfsTer13) c.2860dup (p.Asp954GlyfsTer13) c.1819dup (p.Asp607GlyfsTer13) | ClinVar dbSNP |
17 | g.46032089C>A | CA399986393 | KANSL1 | c.3048G>T (p.Glu1016Asp) c.3045G>T (p.Glu1015Asp) c.2856G>T (p.Glu952Asp) n.465G>T c.2916G>T (p.Glu972Asp) n.7265G>T n.478G>T n.1020G>T c.2946G>T (p.Glu982Asp) c.2859G>T (p.Glu953Asp) c.1818G>T (p.Glu606Asp) | |
17 | g.46032089C>G | CA399986396 | KANSL1 | c.3048G>C (p.Glu1016Asp) c.3045G>C (p.Glu1015Asp) c.2856G>C (p.Glu952Asp) n.465G>C c.2916G>C (p.Glu972Asp) n.7265G>C n.478G>C n.1020G>C c.2946G>C (p.Glu982Asp) c.2859G>C (p.Glu953Asp) c.1818G>C (p.Glu606Asp) | |
17 | g.46032089C>T | CA500371940 | KANSL1 | c.3048G>A (p.Glu1016=) c.3045G>A (p.Glu1015=) c.2856G>A (p.Glu952=) n.465G>A c.2916G>A (p.Glu972=) n.7265G>A n.478G>A n.1020G>A c.2946G>A (p.Glu982=) c.2859G>A (p.Glu953=) c.1818G>A (p.Glu606=) | dbSNP gnomAD v4 |
17 | g.46032090T>A | CA399986398 | KANSL1 | c.3047A>T (p.Glu1016Val) c.3044A>T (p.Glu1015Val) c.2855A>T (p.Glu952Val) n.464A>T c.2915A>T (p.Glu972Val) n.7264A>T n.477A>T n.1019A>T c.2945A>T (p.Glu982Val) c.2858A>T (p.Glu953Val) c.1817A>T (p.Glu606Val) | |
17 | g.46032090T>C | CA399986400 | KANSL1 | c.3047A>G (p.Glu1016Gly) c.3044A>G (p.Glu1015Gly) c.2855A>G (p.Glu952Gly) n.464A>G c.2915A>G (p.Glu972Gly) n.7264A>G n.477A>G n.1019A>G c.2945A>G (p.Glu982Gly) c.2858A>G (p.Glu953Gly) c.1817A>G (p.Glu606Gly) | |
17 | g.46032090T>G | CA399986402 | KANSL1 | c.3047A>C (p.Glu1016Ala) c.3044A>C (p.Glu1015Ala) c.2855A>C (p.Glu952Ala) n.464A>C c.2915A>C (p.Glu972Ala) n.7264A>C n.477A>C n.1019A>C c.2945A>C (p.Glu982Ala) c.2858A>C (p.Glu953Ala) c.1817A>C (p.Glu606Ala) | |
17 | g.46032091C>A | CA399986406 | KANSL1 | c.3046G>T (p.Glu1016Ter) c.3043G>T (p.Glu1015Ter) c.2854G>T (p.Glu952Ter) n.463G>T c.2914G>T (p.Glu972Ter) n.7263G>T n.476G>T n.1018G>T c.2944G>T (p.Glu982Ter) c.2857G>T (p.Glu953Ter) c.1816G>T (p.Glu606Ter) | |
17 | g.46032091C>G | CA399986407 | KANSL1 | c.3046G>C (p.Glu1016Gln) c.3043G>C (p.Glu1015Gln) c.2854G>C (p.Glu952Gln) n.463G>C c.2914G>C (p.Glu972Gln) n.7263G>C n.476G>C n.1018G>C c.2944G>C (p.Glu982Gln) c.2857G>C (p.Glu953Gln) c.1816G>C (p.Glu606Gln) | |
17 | g.46032091C>T | CA399986404 | KANSL1 | c.3046G>A (p.Glu1016Lys) c.3043G>A (p.Glu1015Lys) c.2854G>A (p.Glu952Lys) n.463G>A c.2914G>A (p.Glu972Lys) n.7263G>A n.476G>A n.1018G>A c.2944G>A (p.Glu982Lys) c.2857G>A (p.Glu953Lys) c.1816G>A (p.Glu606Lys) | |
17 | g.46032092A>C | CA399986411 | KANSL1 | c.3045T>G (p.Ser1015Arg) c.3042T>G (p.Ser1014Arg) c.2853T>G (p.Ser951Arg) n.462T>G c.2913T>G (p.Ser971Arg) n.7262T>G n.475T>G n.1017T>G c.2943T>G (p.Ser981Arg) c.2856T>G (p.Ser952Arg) c.1815T>G (p.Ser605Arg) | |
17 | g.46032092A>G | CA500371941 | KANSL1 | c.3045T>C (p.Ser1015=) c.3042T>C (p.Ser1014=) c.2853T>C (p.Ser951=) n.462T>C c.2913T>C (p.Ser971=) n.7262T>C n.475T>C n.1017T>C c.2943T>C (p.Ser981=) c.2856T>C (p.Ser952=) c.1815T>C (p.Ser605=) | |
17 | g.46032092A>T | CA399986409 | KANSL1 | c.3045T>A (p.Ser1015Arg) c.3042T>A (p.Ser1014Arg) c.2853T>A (p.Ser951Arg) n.462T>A c.2913T>A (p.Ser971Arg) n.7262T>A n.475T>A n.1017T>A c.2943T>A (p.Ser981Arg) c.2856T>A (p.Ser952Arg) c.1815T>A (p.Ser605Arg) | |
17 | g.46032093C>A | CA399986413 | KANSL1 | c.3044G>T (p.Ser1015Ile) c.3041G>T (p.Ser1014Ile) c.2852G>T (p.Ser951Ile) n.461G>T c.2912G>T (p.Ser971Ile) n.7261G>T n.474G>T n.1016G>T c.2942G>T (p.Ser981Ile) c.2855G>T (p.Ser952Ile) c.1814G>T (p.Ser605Ile) | |
17 | g.46032093C= | CA2262110999 | KANSL1 | c.3044G= (p.Ser1015=) c.3041G= (p.Ser1014=) c.2852G= (p.Ser951=) n.461G= c.2912G= (p.Ser971=) n.7261G= n.474G= n.1016G= c.2942G= (p.Ser981=) c.2855G= (p.Ser952=) c.1814G= (p.Ser605=) | |
17 | g.46032093C>G | CA399986415 | KANSL1 | c.3044G>C (p.Ser1015Thr) c.3041G>C (p.Ser1014Thr) c.2852G>C (p.Ser951Thr) n.461G>C c.2912G>C (p.Ser971Thr) n.7261G>C n.474G>C n.1016G>C c.2942G>C (p.Ser981Thr) c.2855G>C (p.Ser952Thr) c.1814G>C (p.Ser605Thr) | |
17 | g.46032093C>T | CA399986416 | KANSL1 | c.3044G>A (p.Ser1015Asn) c.3041G>A (p.Ser1014Asn) c.2852G>A (p.Ser951Asn) n.461G>A c.2912G>A (p.Ser971Asn) n.7261G>A n.474G>A n.1016G>A c.2942G>A (p.Ser981Asn) c.2855G>A (p.Ser952Asn) c.1814G>A (p.Ser605Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032094T>A | CA399986419 | KANSL1 | c.3043A>T (p.Ser1015Cys) c.3040A>T (p.Ser1014Cys) c.2851A>T (p.Ser951Cys) n.460A>T c.2911A>T (p.Ser971Cys) n.7260A>T n.473A>T n.1015A>T c.2941A>T (p.Ser981Cys) c.2854A>T (p.Ser952Cys) c.1813A>T (p.Ser605Cys) | |
17 | g.46032094T>C | CA399986420 | KANSL1 | c.3043A>G (p.Ser1015Gly) c.3040A>G (p.Ser1014Gly) c.2851A>G (p.Ser951Gly) n.460A>G c.2911A>G (p.Ser971Gly) n.7260A>G n.473A>G n.1015A>G c.2941A>G (p.Ser981Gly) c.2854A>G (p.Ser952Gly) c.1813A>G (p.Ser605Gly) | ClinVar dbSNP gnomAD v4 |
17 | g.46032094T>G | CA399986422 | KANSL1 | c.3043A>C (p.Ser1015Arg) c.3040A>C (p.Ser1014Arg) c.2851A>C (p.Ser951Arg) n.460A>C c.2911A>C (p.Ser971Arg) n.7260A>C n.473A>C n.1015A>C c.2941A>C (p.Ser981Arg) c.2854A>C (p.Ser952Arg) c.1813A>C (p.Ser605Arg) | |
17 | g.46032094T= | CA2262111000 | KANSL1 | c.3043A= (p.Ser1015=) c.3040A= (p.Ser1014=) c.2851A= (p.Ser951=) n.460A= c.2911A= (p.Ser971=) n.7260A= n.473A= n.1015A= c.2941A= (p.Ser981=) c.2854A= (p.Ser952=) c.1813A= (p.Ser605=) | |
17 | g.46032095G>A | CA500371942 | KANSL1 | c.3042C>T (p.Ala1014=) c.3039C>T (p.Ala1013=) c.2850C>T (p.Ala950=) n.459C>T c.2910C>T (p.Ala970=) n.7259C>T n.472C>T n.1014C>T c.2940C>T (p.Ala980=) c.2853C>T (p.Ala951=) c.1812C>T (p.Ala604=) | |
17 | g.46032095G>C | CA500371944 | KANSL1 | c.3042C>G (p.Ala1014=) c.3039C>G (p.Ala1013=) c.2850C>G (p.Ala950=) n.459C>G c.2910C>G (p.Ala970=) n.7259C>G n.472C>G n.1014C>G c.2940C>G (p.Ala980=) c.2853C>G (p.Ala951=) c.1812C>G (p.Ala604=) | |
17 | g.46032095G>T | CA500371943 | KANSL1 | c.3042C>A (p.Ala1014=) c.3039C>A (p.Ala1013=) c.2850C>A (p.Ala950=) n.459C>A c.2910C>A (p.Ala970=) n.7259C>A n.472C>A n.1014C>A c.2940C>A (p.Ala980=) c.2853C>A (p.Ala951=) c.1812C>A (p.Ala604=) | |
17 | g.46032096G>A | CA399986424 | KANSL1 | c.3041C>T (p.Ala1014Val) c.3038C>T (p.Ala1013Val) c.2849C>T (p.Ala950Val) n.458C>T c.2909C>T (p.Ala970Val) n.7258C>T n.471C>T n.1013C>T c.2939C>T (p.Ala980Val) c.2852C>T (p.Ala951Val) c.1811C>T (p.Ala604Val) | |
17 | g.46032096G>C | CA399986426 | KANSL1 | c.3041C>G (p.Ala1014Gly) c.3038C>G (p.Ala1013Gly) c.2849C>G (p.Ala950Gly) n.458C>G c.2909C>G (p.Ala970Gly) n.7258C>G n.471C>G n.1013C>G c.2939C>G (p.Ala980Gly) c.2852C>G (p.Ala951Gly) c.1811C>G (p.Ala604Gly) | |
17 | g.46032096G>T | CA399986427 | KANSL1 | c.3041C>A (p.Ala1014Asp) c.3038C>A (p.Ala1013Asp) c.2849C>A (p.Ala950Asp) n.458C>A c.2909C>A (p.Ala970Asp) n.7258C>A n.471C>A n.1013C>A c.2939C>A (p.Ala980Asp) c.2852C>A (p.Ala951Asp) c.1811C>A (p.Ala604Asp) | |
17 | g.46032098_46032107del | CA658781636 | KANSL1 | c.3032_3041del (p.Arg1011ProfsTer?) c.3029_3038del (p.Arg1010ProfsTer?) c.2840_2849del (p.Arg947ProfsTer?) n.449_458del c.2900_2909del (p.Arg967ProfsTer?) n.7249_7258del n.462_471del n.1004_1013del c.2930_2939del (p.Arg977ProfsTer?) c.2843_2852del (p.Arg948ProfsTer?) c.1802_1811del (p.Arg601ProfsTer?) | |
17 | g.46032097C>A | CA399986430 | KANSL1 | c.3040G>T (p.Ala1014Ser) c.3037G>T (p.Ala1013Ser) c.2848G>T (p.Ala950Ser) n.457G>T c.2908G>T (p.Ala970Ser) n.7257G>T n.470G>T n.1012G>T c.2938G>T (p.Ala980Ser) c.2851G>T (p.Ala951Ser) c.1810G>T (p.Ala604Ser) | |
17 | g.46032097C>G | CA399986431 | KANSL1 | c.3040G>C (p.Ala1014Pro) c.3037G>C (p.Ala1013Pro) c.2848G>C (p.Ala950Pro) n.457G>C c.2908G>C (p.Ala970Pro) n.7257G>C n.470G>C n.1012G>C c.2938G>C (p.Ala980Pro) c.2851G>C (p.Ala951Pro) c.1810G>C (p.Ala604Pro) | |
17 | g.46032097C>T | CA399986433 | KANSL1 | c.3040G>A (p.Ala1014Thr) c.3037G>A (p.Ala1013Thr) c.2848G>A (p.Ala950Thr) n.457G>A c.2908G>A (p.Ala970Thr) n.7257G>A n.470G>A n.1012G>A c.2938G>A (p.Ala980Thr) c.2851G>A (p.Ala951Thr) c.1810G>A (p.Ala604Thr) | |
17 | g.46032098T>A | CA399986437 | KANSL1 | c.3039A>T (p.Leu1013Phe) c.3036A>T (p.Leu1012Phe) c.2847A>T (p.Leu949Phe) n.456A>T c.2907A>T (p.Leu969Phe) n.7256A>T n.469A>T n.1011A>T c.2937A>T (p.Leu979Phe) c.2850A>T (p.Leu950Phe) c.1809A>T (p.Leu603Phe) | gnomAD v4 |
17 | g.46032098T>C | CA500371945 | KANSL1 | c.3039A>G (p.Leu1013=) c.3036A>G (p.Leu1012=) c.2847A>G (p.Leu949=) n.456A>G c.2907A>G (p.Leu969=) n.7256A>G n.469A>G n.1011A>G c.2937A>G (p.Leu979=) c.2850A>G (p.Leu950=) c.1809A>G (p.Leu603=) | |
17 | g.46032098T>G | CA399986435 | KANSL1 | c.3039A>C (p.Leu1013Phe) c.3036A>C (p.Leu1012Phe) c.2847A>C (p.Leu949Phe) n.456A>C c.2907A>C (p.Leu969Phe) n.7256A>C n.469A>C n.1011A>C c.2937A>C (p.Leu979Phe) c.2850A>C (p.Leu950Phe) c.1809A>C (p.Leu603Phe) | |
17 | g.46032099A= | CA2262111001 | KANSL1 | c.3038T= (p.Leu1013=) c.3035T= (p.Leu1012=) c.2846T= (p.Leu949=) n.455T= c.2906T= (p.Leu969=) n.7255T= n.468T= n.1010T= c.2936T= (p.Leu979=) c.2849T= (p.Leu950=) c.1808T= (p.Leu603=) | |
17 | g.46032099A>C | CA399986439 | KANSL1 | c.3038T>G (p.Leu1013Ter) c.3035T>G (p.Leu1012Ter) c.2846T>G (p.Leu949Ter) n.455T>G c.2906T>G (p.Leu969Ter) n.7255T>G n.468T>G n.1010T>G c.2936T>G (p.Leu979Ter) c.2849T>G (p.Leu950Ter) c.1808T>G (p.Leu603Ter) | |
17 | g.46032099A>G | CA8618395 | KANSL1 | c.3038T>C (p.Leu1013Ser) c.3035T>C (p.Leu1012Ser) c.2846T>C (p.Leu949Ser) n.455T>C c.2906T>C (p.Leu969Ser) n.7255T>C n.468T>C n.1010T>C c.2936T>C (p.Leu979Ser) c.2849T>C (p.Leu950Ser) c.1808T>C (p.Leu603Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032099A>T | CA399986442 | KANSL1 | c.3038T>A (p.Leu1013Ter) c.3035T>A (p.Leu1012Ter) c.2846T>A (p.Leu949Ter) n.455T>A c.2906T>A (p.Leu969Ter) n.7255T>A n.468T>A n.1010T>A c.2936T>A (p.Leu979Ter) c.2849T>A (p.Leu950Ter) c.1808T>A (p.Leu603Ter) | |
17 | g.46032100dup | CA2839445924 | KANSL1 | c.3038dup (p.Leu1013PhefsTer4) c.3035dup (p.Leu1012PhefsTer4) c.2846dup (p.Leu949PhefsTer4) n.455dup c.2906dup (p.Leu969PhefsTer4) n.7255dup n.468dup n.1010dup c.2936dup (p.Leu979PhefsTer4) c.2849dup (p.Leu950PhefsTer4) c.1808dup (p.Leu603PhefsTer4) | |
17 | g.46032100A>C | CA399986443 | KANSL1 | c.3037T>G (p.Leu1013Val) c.3034T>G (p.Leu1012Val) c.2845T>G (p.Leu949Val) n.454T>G c.2905T>G (p.Leu969Val) n.7254T>G n.467T>G n.1009T>G c.2935T>G (p.Leu979Val) c.2848T>G (p.Leu950Val) c.1807T>G (p.Leu603Val) | |
17 | g.46032100A>G | CA500371946 | KANSL1 | c.3037T>C (p.Leu1013=) c.3034T>C (p.Leu1012=) c.2845T>C (p.Leu949=) n.454T>C c.2905T>C (p.Leu969=) n.7254T>C n.467T>C n.1009T>C c.2935T>C (p.Leu979=) c.2848T>C (p.Leu950=) c.1807T>C (p.Leu603=) | |
17 | g.46032100A>T | CA399986445 | KANSL1 | c.3037T>A (p.Leu1013Ile) c.3034T>A (p.Leu1012Ile) c.2845T>A (p.Leu949Ile) n.454T>A c.2905T>A (p.Leu969Ile) n.7254T>A n.467T>A n.1009T>A c.2935T>A (p.Leu979Ile) c.2848T>A (p.Leu950Ile) c.1807T>A (p.Leu603Ile) | |
17 | g.46032101G>A | CA500371947 | KANSL1 | c.3036C>T (p.His1012=) c.3033C>T (p.His1011=) c.2844C>T (p.His948=) n.453C>T c.2904C>T (p.His968=) n.7253C>T n.466C>T n.1008C>T c.2934C>T (p.His978=) c.2847C>T (p.His949=) c.1806C>T (p.His602=) | |
17 | g.46032101G>C | CA399986448 | KANSL1 | c.3036C>G (p.His1012Gln) c.3033C>G (p.His1011Gln) c.2844C>G (p.His948Gln) n.453C>G c.2904C>G (p.His968Gln) n.7253C>G n.466C>G n.1008C>G c.2934C>G (p.His978Gln) c.2847C>G (p.His949Gln) c.1806C>G (p.His602Gln) | |
17 | g.46032101G>T | CA399986449 | KANSL1 | c.3036C>A (p.His1012Gln) c.3033C>A (p.His1011Gln) c.2844C>A (p.His948Gln) n.453C>A c.2904C>A (p.His968Gln) n.7253C>A n.466C>A n.1008C>A c.2934C>A (p.His978Gln) c.2847C>A (p.His949Gln) c.1806C>A (p.His602Gln) | |
17 | g.46032102T>A | CA399986451 | KANSL1 | c.3035A>T (p.His1012Leu) c.3032A>T (p.His1011Leu) c.2843A>T (p.His948Leu) n.452A>T c.2903A>T (p.His968Leu) n.7252A>T n.465A>T n.1007A>T c.2933A>T (p.His978Leu) c.2846A>T (p.His949Leu) c.1805A>T (p.His602Leu) | |
17 | g.46032102T>C | CA16607297 | KANSL1 | c.3035A>G (p.His1012Arg) c.3032A>G (p.His1011Arg) c.2843A>G (p.His948Arg) n.452A>G c.2903A>G (p.His968Arg) n.7252A>G n.465A>G n.1007A>G c.2933A>G (p.His978Arg) c.2846A>G (p.His949Arg) c.1805A>G (p.His602Arg) | ClinVar dbSNP |
17 | g.46032102T>G | CA399986453 | KANSL1 | c.3035A>C (p.His1012Pro) c.3032A>C (p.His1011Pro) c.2843A>C (p.His948Pro) n.452A>C c.2903A>C (p.His968Pro) n.7252A>C n.465A>C n.1007A>C c.2933A>C (p.His978Pro) c.2846A>C (p.His949Pro) c.1805A>C (p.His602Pro) | |
17 | g.46032102T= | CA2262111002 | KANSL1 | c.3035A= (p.His1012=) c.3032A= (p.His1011=) c.2843A= (p.His948=) n.452A= c.2903A= (p.His968=) n.7252A= n.465A= n.1007A= c.2933A= (p.His978=) c.2846A= (p.His949=) c.1805A= (p.His602=) | |
17 | g.46032103G>A | CA399986455 | KANSL1 | c.3034C>T (p.His1012Tyr) c.3031C>T (p.His1011Tyr) c.2842C>T (p.His948Tyr) n.451C>T c.2902C>T (p.His968Tyr) n.7251C>T n.464C>T n.1006C>T c.2932C>T (p.His978Tyr) c.2845C>T (p.His949Tyr) c.1804C>T (p.His602Tyr) | |
17 | g.46032103G>C | CA399986457 | KANSL1 | c.3034C>G (p.His1012Asp) c.3031C>G (p.His1011Asp) c.2842C>G (p.His948Asp) n.451C>G c.2902C>G (p.His968Asp) n.7251C>G n.464C>G n.1006C>G c.2932C>G (p.His978Asp) c.2845C>G (p.His949Asp) c.1804C>G (p.His602Asp) | |
17 | g.46032103G>T | CA399986458 | KANSL1 | c.3034C>A (p.His1012Asn) c.3031C>A (p.His1011Asn) c.2842C>A (p.His948Asn) n.451C>A c.2902C>A (p.His968Asn) n.7251C>A n.464C>A n.1006C>A c.2932C>A (p.His978Asn) c.2845C>A (p.His949Asn) c.1804C>A (p.His602Asn) | |
17 | g.46032104T>A | CA500371949 | KANSL1 | c.3033A>T (p.Arg1011=) c.3030A>T (p.Arg1010=) c.2841A>T (p.Arg947=) n.450A>T c.2901A>T (p.Arg967=) n.7250A>T n.463A>T n.1005A>T c.2931A>T (p.Arg977=) c.2844A>T (p.Arg948=) c.1803A>T (p.Arg601=) | |
17 | g.46032104T>C | CA500371950 | KANSL1 | c.3033A>G (p.Arg1011=) c.3030A>G (p.Arg1010=) c.2841A>G (p.Arg947=) n.450A>G c.2901A>G (p.Arg967=) n.7250A>G n.463A>G n.1005A>G c.2931A>G (p.Arg977=) c.2844A>G (p.Arg948=) c.1803A>G (p.Arg601=) | |
17 | g.46032104T>G | CA500371948 | KANSL1 | c.3033A>C (p.Arg1011=) c.3030A>C (p.Arg1010=) c.2841A>C (p.Arg947=) n.450A>C c.2901A>C (p.Arg967=) n.7250A>C n.463A>C n.1005A>C c.2931A>C (p.Arg977=) c.2844A>C (p.Arg948=) c.1803A>C (p.Arg601=) | |
17 | g.46032104dup | CA2839728524 | KANSL1 | c.3033dup (p.His1012ThrfsTer5) c.3030dup (p.His1011ThrfsTer5) c.2841dup (p.His948ThrfsTer5) n.450dup c.2901dup (p.His968ThrfsTer5) n.7250dup n.463dup n.1005dup c.2931dup (p.His978ThrfsTer5) c.2844dup (p.His949ThrfsTer5) c.1803dup (p.His602ThrfsTer5) | |
17 | g.46032105C>A | CA399986464 | KANSL1 | c.3032G>T (p.Arg1011Leu) c.3029G>T (p.Arg1010Leu) c.2840G>T (p.Arg947Leu) n.449G>T c.2900G>T (p.Arg967Leu) n.7249G>T n.462G>T n.1004G>T c.2930G>T (p.Arg977Leu) c.2843G>T (p.Arg948Leu) c.1802G>T (p.Arg601Leu) | |
17 | g.46032105C>G | CA399986462 | KANSL1 | c.3032G>C (p.Arg1011Pro) c.3029G>C (p.Arg1010Pro) c.2840G>C (p.Arg947Pro) n.449G>C c.2900G>C (p.Arg967Pro) n.7249G>C n.462G>C n.1004G>C c.2930G>C (p.Arg977Pro) c.2843G>C (p.Arg948Pro) c.1802G>C (p.Arg601Pro) | |
17 | g.46032105C>T | CA399986461 | KANSL1 | c.3032G>A (p.Arg1011Gln) c.3029G>A (p.Arg1010Gln) c.2840G>A (p.Arg947Gln) n.449G>A c.2900G>A (p.Arg967Gln) n.7249G>A n.462G>A n.1004G>A c.2930G>A (p.Arg977Gln) c.2843G>A (p.Arg948Gln) c.1802G>A (p.Arg601Gln) | gnomAD v4 COSMIC |
17 | g.46032106G>A | CA399986465 | KANSL1 | c.3031C>T (p.Arg1011Ter) c.3028C>T (p.Arg1010Ter) c.2839C>T (p.Arg947Ter) n.448C>T c.2899C>T (p.Arg967Ter) n.7248C>T n.461C>T n.1003C>T c.2929C>T (p.Arg977Ter) c.2842C>T (p.Arg948Ter) c.1801C>T (p.Arg601Ter) | ClinVar dbSNP |
17 | g.46032106G>C | CA399986466 | KANSL1 | c.3031C>G (p.Arg1011Gly) c.3028C>G (p.Arg1010Gly) c.2839C>G (p.Arg947Gly) n.448C>G c.2899C>G (p.Arg967Gly) n.7248C>G n.461C>G n.1003C>G c.2929C>G (p.Arg977Gly) c.2842C>G (p.Arg948Gly) c.1801C>G (p.Arg601Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.46032106G= | CA2262111003 | KANSL1 | c.3031C= (p.Arg1011=) c.3028C= (p.Arg1010=) c.2839C= (p.Arg947=) n.448C= c.2899C= (p.Arg967=) n.7248C= n.461C= n.1003C= c.2929C= (p.Arg977=) c.2842C= (p.Arg948=) c.1801C= (p.Arg601=) | |
17 | g.46032106G>T | CA8618396 | KANSL1 | c.3031C>A (p.Arg1011=) c.3028C>A (p.Arg1010=) c.2839C>A (p.Arg947=) n.448C>A c.2899C>A (p.Arg967=) n.7248C>A n.461C>A n.1003C>A c.2929C>A (p.Arg977=) c.2842C>A (p.Arg948=) c.1801C>A (p.Arg601=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032107C>A | CA500371951 | KANSL1 | c.3030G>T (p.Pro1010=) c.3027G>T (p.Pro1009=) c.2838G>T (p.Pro946=) n.447G>T c.2898G>T (p.Pro966=) n.7247G>T n.460G>T n.1002G>T c.2928G>T (p.Pro976=) c.2841G>T (p.Pro947=) c.1800G>T (p.Pro600=) | |
17 | g.46032107C= | CA2262111004 | KANSL1 | c.3030G= (p.Pro1010=) c.3027G= (p.Pro1009=) c.2838G= (p.Pro946=) n.447G= c.2898G= (p.Pro966=) n.7247G= n.460G= n.1002G= c.2928G= (p.Pro976=) c.2841G= (p.Pro947=) c.1800G= (p.Pro600=) | |
17 | g.46032107C>G | CA500371952 | KANSL1 | c.3030G>C (p.Pro1010=) c.3027G>C (p.Pro1009=) c.2838G>C (p.Pro946=) n.447G>C c.2898G>C (p.Pro966=) n.7247G>C n.460G>C n.1002G>C c.2928G>C (p.Pro976=) c.2841G>C (p.Pro947=) c.1800G>C (p.Pro600=) | |
17 | g.46032107C>T | CA8618397 | KANSL1 | c.3030G>A (p.Pro1010=) c.3027G>A (p.Pro1009=) c.2838G>A (p.Pro946=) n.447G>A c.2898G>A (p.Pro966=) n.7247G>A n.460G>A n.1002G>A c.2928G>A (p.Pro976=) c.2841G>A (p.Pro947=) c.1800G>A (p.Pro600=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032108G>A | CA8618398 | KANSL1 | c.3029C>T (p.Pro1010Leu) c.3026C>T (p.Pro1009Leu) c.2837C>T (p.Pro946Leu) n.446C>T c.2897C>T (p.Pro966Leu) n.7246C>T n.459C>T n.1001C>T c.2927C>T (p.Pro976Leu) c.2840C>T (p.Pro947Leu) c.1799C>T (p.Pro600Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032108G>C | CA399986472 | KANSL1 | c.3029C>G (p.Pro1010Arg) c.3026C>G (p.Pro1009Arg) c.2837C>G (p.Pro946Arg) n.446C>G c.2897C>G (p.Pro966Arg) n.7246C>G n.459C>G n.1001C>G c.2927C>G (p.Pro976Arg) c.2840C>G (p.Pro947Arg) c.1799C>G (p.Pro600Arg) | |
17 | g.46032108G= | CA2262111005 | KANSL1 | c.3029C= (p.Pro1010=) c.3026C= (p.Pro1009=) c.2837C= (p.Pro946=) n.446C= c.2897C= (p.Pro966=) n.7246C= n.459C= n.1001C= c.2927C= (p.Pro976=) c.2840C= (p.Pro947=) c.1799C= (p.Pro600=) | |
17 | g.46032108G>T | CA399986473 | KANSL1 | c.3029C>A (p.Pro1010Gln) c.3026C>A (p.Pro1009Gln) c.2837C>A (p.Pro946Gln) n.446C>A c.2897C>A (p.Pro966Gln) n.7246C>A n.459C>A n.1001C>A c.2927C>A (p.Pro976Gln) c.2840C>A (p.Pro947Gln) c.1799C>A (p.Pro600Gln) | gnomAD v4 |
17 | g.46032109G>A | CA8618399 | KANSL1 | c.3028C>T (p.Pro1010Ser) c.3025C>T (p.Pro1009Ser) c.2836C>T (p.Pro946Ser) n.445C>T c.2896C>T (p.Pro966Ser) n.7245C>T n.458C>T n.1000C>T c.2926C>T (p.Pro976Ser) c.2839C>T (p.Pro947Ser) c.1798C>T (p.Pro600Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46032109G>C | CA291125846 | KANSL1 | c.3028C>G (p.Pro1010Ala) c.3025C>G (p.Pro1009Ala) c.2836C>G (p.Pro946Ala) n.445C>G c.2896C>G (p.Pro966Ala) n.7245C>G n.458C>G n.1000C>G c.2926C>G (p.Pro976Ala) c.2839C>G (p.Pro947Ala) c.1798C>G (p.Pro600Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.46032109G= | CA2262111006 | KANSL1 | c.3028C= (p.Pro1010=) c.3025C= (p.Pro1009=) c.2836C= (p.Pro946=) n.445C= c.2896C= (p.Pro966=) n.7245C= n.458C= n.1000C= c.2926C= (p.Pro976=) c.2839C= (p.Pro947=) c.1798C= (p.Pro600=) | |
17 | g.46032109G>T | CA399986477 | KANSL1 | c.3028C>A (p.Pro1010Thr) c.3025C>A (p.Pro1009Thr) c.2836C>A (p.Pro946Thr) n.445C>A c.2896C>A (p.Pro966Thr) n.7245C>A n.458C>A n.1000C>A c.2926C>A (p.Pro976Thr) c.2839C>A (p.Pro947Thr) c.1798C>A (p.Pro600Thr) | gnomAD v4 |
17 | g.46032110A= | CA2262111007 | KANSL1 | c.3027T= (p.Thr1009=) c.3024T= (p.Thr1008=) c.2835T= (p.Thr945=) n.444T= c.2895T= (p.Thr965=) n.7244T= n.457T= n.999T= c.2925T= (p.Thr975=) c.2838T= (p.Thr946=) c.1797T= (p.Thr599=) | |
17 | g.46032110A>C | CA8618401 | KANSL1 | c.3027T>G (p.Thr1009=) c.3024T>G (p.Thr1008=) c.2835T>G (p.Thr945=) n.444T>G c.2895T>G (p.Thr965=) n.7244T>G n.457T>G n.999T>G c.2925T>G (p.Thr975=) c.2838T>G (p.Thr946=) c.1797T>G (p.Thr599=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46032110A>G | CA500371953 | KANSL1 | c.3027T>C (p.Thr1009=) c.3024T>C (p.Thr1008=) c.2835T>C (p.Thr945=) n.444T>C c.2895T>C (p.Thr965=) n.7244T>C n.457T>C n.999T>C c.2925T>C (p.Thr975=) c.2838T>C (p.Thr946=) c.1797T>C (p.Thr599=) | |
17 | g.46032110A>T | CA8618400 | KANSL1 | c.3027T>A (p.Thr1009=) c.3024T>A (p.Thr1008=) c.2835T>A (p.Thr945=) n.444T>A c.2895T>A (p.Thr965=) n.7244T>A n.457T>A n.999T>A c.2925T>A (p.Thr975=) c.2838T>A (p.Thr946=) c.1797T>A (p.Thr599=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46032111G>A | CA399986482 | KANSL1 | c.3026C>T (p.Thr1009Ile) c.3023C>T (p.Thr1008Ile) c.2834C>T (p.Thr945Ile) n.443C>T c.2894C>T (p.Thr965Ile) n.7243C>T n.456C>T n.998C>T c.2924C>T (p.Thr975Ile) c.2837C>T (p.Thr946Ile) c.1796C>T (p.Thr599Ile) | |
17 | g.46032111G>C | CA399986483 | KANSL1 | c.3026C>G (p.Thr1009Ser) c.3023C>G (p.Thr1008Ser) c.2834C>G (p.Thr945Ser) n.443C>G c.2894C>G (p.Thr965Ser) n.7243C>G n.456C>G n.998C>G c.2924C>G (p.Thr975Ser) c.2837C>G (p.Thr946Ser) c.1796C>G (p.Thr599Ser) | |
17 | g.46032111G>T | CA399986480 | KANSL1 | c.3026C>A (p.Thr1009Asn) c.3023C>A (p.Thr1008Asn) c.2834C>A (p.Thr945Asn) n.443C>A c.2894C>A (p.Thr965Asn) n.7243C>A n.456C>A n.998C>A c.2924C>A (p.Thr975Asn) c.2837C>A (p.Thr946Asn) c.1796C>A (p.Thr599Asn) | |
17 | g.46032112del | CA2638372159 | KANSL1 | c.3025del (p.Thr1009LeufsTer5) c.3022del (p.Thr1008LeufsTer5) c.2833del (p.Thr945LeufsTer5) n.442del c.2893del (p.Thr965LeufsTer5) n.7242del n.455del n.997del c.2923del (p.Thr975LeufsTer5) c.2836del (p.Thr946LeufsTer5) c.1795del (p.Thr599LeufsTer5) | gnomAD v4 |
17 | g.46032112T>A | CA399986486 | KANSL1 | c.3025A>T (p.Thr1009Ser) c.3022A>T (p.Thr1008Ser) c.2833A>T (p.Thr945Ser) n.442A>T c.2893A>T (p.Thr965Ser) n.7242A>T n.455A>T n.997A>T c.2923A>T (p.Thr975Ser) c.2836A>T (p.Thr946Ser) c.1795A>T (p.Thr599Ser) | |
17 | g.46032112T>C | CA399986488 | KANSL1 | c.3025A>G (p.Thr1009Ala) c.3022A>G (p.Thr1008Ala) c.2833A>G (p.Thr945Ala) n.442A>G c.2893A>G (p.Thr965Ala) n.7242A>G n.455A>G n.997A>G c.2923A>G (p.Thr975Ala) c.2836A>G (p.Thr946Ala) c.1795A>G (p.Thr599Ala) | gnomAD v4 |
17 | g.46032112T>G | CA8618402 | KANSL1 | c.3025A>C (p.Thr1009Pro) c.3022A>C (p.Thr1008Pro) c.2833A>C (p.Thr945Pro) n.442A>C c.2893A>C (p.Thr965Pro) n.7242A>C n.455A>C n.997A>C c.2923A>C (p.Thr975Pro) c.2836A>C (p.Thr946Pro) c.1795A>C (p.Thr599Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46032112T= | CA2262111008 | KANSL1 | c.3025A= (p.Thr1009=) c.3022A= (p.Thr1008=) c.2833A= (p.Thr945=) n.442A= c.2893A= (p.Thr965=) n.7242A= n.455A= n.997A= c.2923A= (p.Thr975=) c.2836A= (p.Thr946=) c.1795A= (p.Thr599=) | |
17 | g.46032113G>A | CA500371954 | KANSL1 | c.3024C>T (p.Asp1008=) c.3021C>T (p.Asp1007=) c.2832C>T (p.Asp944=) n.441C>T c.2892C>T (p.Asp964=) n.7241C>T n.454C>T n.996C>T c.2922C>T (p.Asp974=) c.2835C>T (p.Asp945=) c.1794C>T (p.Asp598=) | |
17 | g.46032113G>C | CA399986490 | KANSL1 | c.3024C>G (p.Asp1008Glu) c.3021C>G (p.Asp1007Glu) c.2832C>G (p.Asp944Glu) n.441C>G c.2892C>G (p.Asp964Glu) n.7241C>G n.454C>G n.996C>G c.2922C>G (p.Asp974Glu) c.2835C>G (p.Asp945Glu) c.1794C>G (p.Asp598Glu) | |
17 | g.46032113G>T | CA399986492 | KANSL1 | c.3024C>A (p.Asp1008Glu) c.3021C>A (p.Asp1007Glu) c.2832C>A (p.Asp944Glu) n.441C>A c.2892C>A (p.Asp964Glu) n.7241C>A n.454C>A n.996C>A c.2922C>A (p.Asp974Glu) c.2835C>A (p.Asp945Glu) c.1794C>A (p.Asp598Glu) | |
17 | g.46032114T>A | CA399986497 | KANSL1 | c.3023A>T (p.Asp1008Val) c.3020A>T (p.Asp1007Val) c.2831A>T (p.Asp944Val) n.440A>T c.2891A>T (p.Asp964Val) n.7240A>T n.453A>T n.995A>T c.2921A>T (p.Asp974Val) c.2834A>T (p.Asp945Val) c.1793A>T (p.Asp598Val) | |
17 | g.46032114T>C | CA399986493 | KANSL1 | c.3023A>G (p.Asp1008Gly) c.3020A>G (p.Asp1007Gly) c.2831A>G (p.Asp944Gly) n.440A>G c.2891A>G (p.Asp964Gly) n.7240A>G n.453A>G n.995A>G c.2921A>G (p.Asp974Gly) c.2834A>G (p.Asp945Gly) c.1793A>G (p.Asp598Gly) | |
17 | g.46032114T>G | CA399986495 | KANSL1 | c.3023A>C (p.Asp1008Ala) c.3020A>C (p.Asp1007Ala) c.2831A>C (p.Asp944Ala) n.440A>C c.2891A>C (p.Asp964Ala) n.7240A>C n.453A>C n.995A>C c.2921A>C (p.Asp974Ala) c.2834A>C (p.Asp945Ala) c.1793A>C (p.Asp598Ala) | |
17 | g.46032115C>A | CA399986499 | KANSL1 | c.3022G>T (p.Asp1008Tyr) c.3019G>T (p.Asp1007Tyr) c.2830G>T (p.Asp944Tyr) n.439G>T c.2890G>T (p.Asp964Tyr) n.7239G>T n.452G>T n.994G>T c.2920G>T (p.Asp974Tyr) c.2833G>T (p.Asp945Tyr) c.1792G>T (p.Asp598Tyr) | |
17 | g.46032115C= | CA2262111009 | KANSL1 | c.3022G= (p.Asp1008=) c.3019G= (p.Asp1007=) c.2830G= (p.Asp944=) n.439G= c.2890G= (p.Asp964=) n.7239G= n.452G= n.994G= c.2920G= (p.Asp974=) c.2833G= (p.Asp945=) c.1792G= (p.Asp598=) | |
17 | g.46032115C>G | CA399986501 | KANSL1 | c.3022G>C (p.Asp1008His) c.3019G>C (p.Asp1007His) c.2830G>C (p.Asp944His) n.439G>C c.2890G>C (p.Asp964His) n.7239G>C n.452G>C n.994G>C c.2920G>C (p.Asp974His) c.2833G>C (p.Asp945His) c.1792G>C (p.Asp598His) | |
17 | g.46032115C>T | CA399986503 | KANSL1 | c.3022G>A (p.Asp1008Asn) c.3019G>A (p.Asp1007Asn) c.2830G>A (p.Asp944Asn) n.439G>A c.2890G>A (p.Asp964Asn) n.7239G>A n.452G>A n.994G>A c.2920G>A (p.Asp974Asn) c.2833G>A (p.Asp945Asn) c.1792G>A (p.Asp598Asn) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46032116C>A | CA500371957 | KANSL1 | c.3021G>T (p.Arg1007=) c.3018G>T (p.Arg1006=) c.2829G>T (p.Arg943=) n.438G>T c.2889G>T (p.Arg963=) n.7238G>T n.451G>T n.993G>T c.2919G>T (p.Arg973=) c.2832G>T (p.Arg944=) c.1791G>T (p.Arg597=) | gnomAD v4 |
17 | g.46032116C>G | CA500371955 | KANSL1 | c.3021G>C (p.Arg1007=) c.3018G>C (p.Arg1006=) c.2829G>C (p.Arg943=) n.438G>C c.2889G>C (p.Arg963=) n.7238G>C n.451G>C n.993G>C c.2919G>C (p.Arg973=) c.2832G>C (p.Arg944=) c.1791G>C (p.Arg597=) | |
17 | g.46032116C>T | CA500371956 | KANSL1 | c.3021G>A (p.Arg1007=) c.3018G>A (p.Arg1006=) c.2829G>A (p.Arg943=) n.438G>A c.2889G>A (p.Arg963=) n.7238G>A n.451G>A n.993G>A c.2919G>A (p.Arg973=) c.2832G>A (p.Arg944=) c.1791G>A (p.Arg597=) | gnomAD v4 |
17 | g.46032116_46032119del | CA2638372167 | KANSL1 | c.3018_3021del (p.Arg1007ThrfsTer6) c.3015_3018del (p.Arg1006ThrfsTer6) c.2826_2829del (p.Arg943ThrfsTer6) n.435_438del c.2886_2889del (p.Arg963ThrfsTer6) n.7235_7238del n.448_451del n.990_993del c.2916_2919del (p.Arg973ThrfsTer6) c.2829_2832del (p.Arg944ThrfsTer6) c.1788_1791del (p.Arg597ThrfsTer6) | gnomAD v4 |
17 | g.46032117C>A | CA399986505 | KANSL1 | c.3020G>T (p.Arg1007Leu) c.3017G>T (p.Arg1006Leu) c.2828G>T (p.Arg943Leu) c.677G>T n.437G>T c.2888G>T (p.Arg963Leu) n.7237G>T n.450G>T n.992G>T c.2918G>T (p.Arg973Leu) c.2831G>T (p.Arg944Leu) c.1790G>T (p.Arg597Leu) | |
17 | g.46032117C= | CA2262111010 | KANSL1 | c.3020G= (p.Arg1007=) c.3017G= (p.Arg1006=) c.2828G= (p.Arg943=) c.677G= n.437G= c.2888G= (p.Arg963=) n.7237G= n.450G= n.992G= c.2918G= (p.Arg973=) c.2831G= (p.Arg944=) c.1790G= (p.Arg597=) | |
17 | g.46032117C>G | CA399986506 | KANSL1 | c.3020G>C (p.Arg1007Pro) c.3017G>C (p.Arg1006Pro) c.2828G>C (p.Arg943Pro) c.677G>C n.437G>C c.2888G>C (p.Arg963Pro) n.7237G>C n.450G>C n.992G>C c.2918G>C (p.Arg973Pro) c.2831G>C (p.Arg944Pro) c.1790G>C (p.Arg597Pro) | dbSNP |
17 | g.46032117C>T | CA8618403 | KANSL1 | c.3020G>A (p.Arg1007Gln) c.3017G>A (p.Arg1006Gln) c.2828G>A (p.Arg943Gln) c.677G>A n.437G>A c.2888G>A (p.Arg963Gln) n.7237G>A n.450G>A n.992G>A c.2918G>A (p.Arg973Gln) c.2831G>A (p.Arg944Gln) c.1790G>A (p.Arg597Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032118G>A | CA16607298 | KANSL1 | c.3019C>T (p.Arg1007Trp) c.3016C>T (p.Arg1006Trp) c.2827C>T (p.Arg943Trp) c.676C>T n.436C>T c.2887C>T (p.Arg963Trp) n.7236C>T n.449C>T n.991C>T c.2917C>T (p.Arg973Trp) c.2830C>T (p.Arg944Trp) c.1789C>T (p.Arg597Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.46032118G>C | CA399986509 | KANSL1 | c.3019C>G (p.Arg1007Gly) c.3016C>G (p.Arg1006Gly) c.2827C>G (p.Arg943Gly) c.676C>G n.436C>G c.2887C>G (p.Arg963Gly) n.7236C>G n.449C>G n.991C>G c.2917C>G (p.Arg973Gly) c.2830C>G (p.Arg944Gly) c.1789C>G (p.Arg597Gly) | |
17 | g.46032118G= | CA2262111011 | KANSL1 | c.3019C= (p.Arg1007=) c.3016C= (p.Arg1006=) c.2827C= (p.Arg943=) c.676C= n.436C= c.2887C= (p.Arg963=) n.7236C= n.449C= n.991C= c.2917C= (p.Arg973=) c.2830C= (p.Arg944=) c.1789C= (p.Arg597=) | |
17 | g.46032118G>T | CA500371958 | KANSL1 | c.3019C>A (p.Arg1007=) c.3016C>A (p.Arg1006=) c.2827C>A (p.Arg943=) c.676C>A n.436C>A c.2887C>A (p.Arg963=) n.7236C>A n.449C>A n.991C>A c.2917C>A (p.Arg973=) c.2830C>A (p.Arg944=) c.1789C>A (p.Arg597=) | |
17 | g.46032119A= | CA2262111012 | KANSL1 | c.3018T= (p.Ala1006=) c.3015T= (p.Ala1005=) c.2826T= (p.Ala942=) c.675T= (p.Ala225=) n.435T= c.2886T= (p.Ala962=) n.7235T= n.448T= n.990T= c.2916T= (p.Ala972=) c.2829T= (p.Ala943=) c.1788T= (p.Ala596=) | |
17 | g.46032119A>C | CA500371960 | KANSL1 | c.3018T>G (p.Ala1006=) c.3015T>G (p.Ala1005=) c.2826T>G (p.Ala942=) c.675T>G (p.Ala225=) n.435T>G c.2886T>G (p.Ala962=) n.7235T>G n.448T>G n.990T>G c.2916T>G (p.Ala972=) c.2829T>G (p.Ala943=) c.1788T>G (p.Ala596=) | |
17 | g.46032119A>G | CA500371959 | KANSL1 | c.3018T>C (p.Ala1006=) c.3015T>C (p.Ala1005=) c.2826T>C (p.Ala942=) c.675T>C (p.Ala225=) n.435T>C c.2886T>C (p.Ala962=) n.7235T>C n.448T>C n.990T>C c.2916T>C (p.Ala972=) c.2829T>C (p.Ala943=) c.1788T>C (p.Ala596=) | dbSNP gnomAD v4 |
17 | g.46032119A>T | CA500371961 | KANSL1 | c.3018T>A (p.Ala1006=) c.3015T>A (p.Ala1005=) c.2826T>A (p.Ala942=) c.675T>A (p.Ala225=) n.435T>A c.2886T>A (p.Ala962=) n.7235T>A n.448T>A n.990T>A c.2916T>A (p.Ala972=) c.2829T>A (p.Ala943=) c.1788T>A (p.Ala596=) | |
17 | g.46032120G>A | CA399986511 | KANSL1 | c.3017C>T (p.Ala1006Val) c.3014C>T (p.Ala1005Val) c.2825C>T (p.Ala942Val) c.674C>T (p.Ala225Val) n.434C>T c.2885C>T (p.Ala962Val) n.7234C>T n.447C>T n.989C>T c.2915C>T (p.Ala972Val) c.2828C>T (p.Ala943Val) c.1787C>T (p.Ala596Val) | |
17 | g.46032120G>C | CA399986514 | KANSL1 | c.3017C>G (p.Ala1006Gly) c.3014C>G (p.Ala1005Gly) c.2825C>G (p.Ala942Gly) c.674C>G (p.Ala225Gly) n.434C>G c.2885C>G (p.Ala962Gly) n.7234C>G n.447C>G n.989C>G c.2915C>G (p.Ala972Gly) c.2828C>G (p.Ala943Gly) c.1787C>G (p.Ala596Gly) | |
17 | g.46032120G>T | CA399986513 | KANSL1 | c.3017C>A (p.Ala1006Asp) c.3014C>A (p.Ala1005Asp) c.2825C>A (p.Ala942Asp) c.674C>A (p.Ala225Asp) n.434C>A c.2885C>A (p.Ala962Asp) n.7234C>A n.447C>A n.989C>A c.2915C>A (p.Ala972Asp) c.2828C>A (p.Ala943Asp) c.1787C>A (p.Ala596Asp) | |
17 | g.46032121C>A | CA399986517 | KANSL1 | c.3016G>T (p.Ala1006Ser) c.3013G>T (p.Ala1005Ser) c.2824G>T (p.Ala942Ser) c.673G>T (p.Ala225Ser) n.433G>T c.2884G>T (p.Ala962Ser) n.7233G>T n.446G>T n.988G>T c.2914G>T (p.Ala972Ser) c.2827G>T (p.Ala943Ser) c.1786G>T (p.Ala596Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.46032121C= | CA2262111013 | KANSL1 | c.3016G= (p.Ala1006=) c.3013G= (p.Ala1005=) c.2824G= (p.Ala942=) c.673G= (p.Ala225=) n.433G= c.2884G= (p.Ala962=) n.7233G= n.446G= n.988G= c.2914G= (p.Ala972=) c.2827G= (p.Ala943=) c.1786G= (p.Ala596=) | |
17 | g.46032121C>G | CA399986522 | KANSL1 | c.3016G>C (p.Ala1006Pro) c.3013G>C (p.Ala1005Pro) c.2824G>C (p.Ala942Pro) c.673G>C (p.Ala225Pro) n.433G>C c.2884G>C (p.Ala962Pro) n.7233G>C n.446G>C n.988G>C c.2914G>C (p.Ala972Pro) c.2827G>C (p.Ala943Pro) c.1786G>C (p.Ala596Pro) | |
17 | g.46032121C>T | CA399986519 | KANSL1 | c.3016G>A (p.Ala1006Thr) c.3013G>A (p.Ala1005Thr) c.2824G>A (p.Ala942Thr) c.673G>A (p.Ala225Thr) n.433G>A c.2884G>A (p.Ala962Thr) n.7233G>A n.446G>A n.988G>A c.2914G>A (p.Ala972Thr) c.2827G>A (p.Ala943Thr) c.1786G>A (p.Ala596Thr) | |
17 | g.46032122C>A | CA500371962 | KANSL1 | c.3015G>T (p.Val1005=) c.3012G>T (p.Val1004=) c.2823G>T (p.Val941=) c.672G>T (p.Val224=) n.432G>T c.2883G>T (p.Val961=) n.7232G>T n.445G>T n.987G>T c.2913G>T (p.Val971=) c.2826G>T (p.Val942=) c.1785G>T (p.Val595=) | |
17 | g.46032122C>G | CA500371964 | KANSL1 | c.3015G>C (p.Val1005=) c.3012G>C (p.Val1004=) c.2823G>C (p.Val941=) c.672G>C (p.Val224=) n.432G>C c.2883G>C (p.Val961=) n.7232G>C n.445G>C n.987G>C c.2913G>C (p.Val971=) c.2826G>C (p.Val942=) c.1785G>C (p.Val595=) | |
17 | g.46032122C>T | CA500371963 | KANSL1 | c.3015G>A (p.Val1005=) c.3012G>A (p.Val1004=) c.2823G>A (p.Val941=) c.672G>A (p.Val224=) n.432G>A c.2883G>A (p.Val961=) n.7232G>A n.445G>A n.987G>A c.2913G>A (p.Val971=) c.2826G>A (p.Val942=) c.1785G>A (p.Val595=) | |
17 | g.46032122_46032123insGTATCATTAAA | CA2638372186 | KANSL1 | c.3014_3015insTTTAATGATAC (p.Ala1006LeufsTer12) c.3011_3012insTTTAATGATAC (p.Ala1005LeufsTer12) c.2822_2823insTTTAATGATAC (p.Ala942LeufsTer12) c.671_672insTTTAATGATAC (p.Ala225LeufsTer?) n.431_432insTTTAATGATAC c.2882_2883insTTTAATGATAC (p.Ala962LeufsTer12) n.7231_7232insTTTAATGATAC n.444_445insTTTAATGATAC n.986_987insTTTAATGATAC c.2912_2913insTTTAATGATAC (p.Ala972LeufsTer12) c.2825_2826insTTTAATGATAC (p.Ala943LeufsTer12) c.1784_1785insTTTAATGATAC (p.Ala596LeufsTer12) | gnomAD v4 |
17 | g.46032123A>C | CA399986525 | KANSL1 | c.3014T>G (p.Val1005Gly) c.3011T>G (p.Val1004Gly) c.2822T>G (p.Val941Gly) c.671T>G (p.Val224Gly) n.431T>G c.2882T>G (p.Val961Gly) n.7231T>G n.444T>G n.986T>G c.2912T>G (p.Val971Gly) c.2825T>G (p.Val942Gly) c.1784T>G (p.Val595Gly) | |
17 | g.46032123A>G | CA399986528 | KANSL1 | c.3014T>C (p.Val1005Ala) c.3011T>C (p.Val1004Ala) c.2822T>C (p.Val941Ala) c.671T>C (p.Val224Ala) n.431T>C c.2882T>C (p.Val961Ala) n.7231T>C n.444T>C n.986T>C c.2912T>C (p.Val971Ala) c.2825T>C (p.Val942Ala) c.1784T>C (p.Val595Ala) | |
17 | g.46032123A>T | CA399986530 | KANSL1 | c.3014T>A (p.Val1005Glu) c.3011T>A (p.Val1004Glu) c.2822T>A (p.Val941Glu) c.671T>A (p.Val224Glu) n.431T>A c.2882T>A (p.Val961Glu) n.7231T>A n.444T>A n.986T>A c.2912T>A (p.Val971Glu) c.2825T>A (p.Val942Glu) c.1784T>A (p.Val595Glu) | |
17 | g.46032124C>A | CA399986533 | KANSL1 | c.3013G>T (p.Val1005Leu) c.3010G>T (p.Val1004Leu) c.2821G>T (p.Val941Leu) c.670G>T (p.Val224Leu) n.430G>T c.2881G>T (p.Val961Leu) n.7230G>T n.443G>T n.985G>T c.2911G>T (p.Val971Leu) c.2824G>T (p.Val942Leu) c.1783G>T (p.Val595Leu) | gnomAD v4 |
17 | g.46032124C>G | CA399986536 | KANSL1 | c.3013G>C (p.Val1005Leu) c.3010G>C (p.Val1004Leu) c.2821G>C (p.Val941Leu) c.670G>C (p.Val224Leu) n.430G>C c.2881G>C (p.Val961Leu) n.7230G>C n.443G>C n.985G>C c.2911G>C (p.Val971Leu) c.2824G>C (p.Val942Leu) c.1783G>C (p.Val595Leu) | |
17 | g.46032124C>T | CA399986539 | KANSL1 | c.3013G>A (p.Val1005Met) c.3010G>A (p.Val1004Met) c.2821G>A (p.Val941Met) c.670G>A (p.Val224Met) n.430G>A c.2881G>A (p.Val961Met) n.7230G>A n.443G>A n.985G>A c.2911G>A (p.Val971Met) c.2824G>A (p.Val942Met) c.1783G>A (p.Val595Met) | gnomAD v4 |
17 | g.46032125A>C | CA500371965 | KANSL1 | c.3012T>G (p.Pro1004=) c.3009T>G (p.Pro1003=) c.2820T>G (p.Pro940=) c.669T>G (p.Pro223=) n.429T>G c.2880T>G (p.Pro960=) n.7229T>G n.442T>G n.984T>G c.2910T>G (p.Pro970=) c.2823T>G (p.Pro941=) c.1782T>G (p.Pro594=) | |
17 | g.46032125A>G | CA500371967 | KANSL1 | c.3012T>C (p.Pro1004=) c.3009T>C (p.Pro1003=) c.2820T>C (p.Pro940=) c.669T>C (p.Pro223=) n.429T>C c.2880T>C (p.Pro960=) n.7229T>C n.442T>C n.984T>C c.2910T>C (p.Pro970=) c.2823T>C (p.Pro941=) c.1782T>C (p.Pro594=) | gnomAD v4 COSMIC |
17 | g.46032125A>T | CA500371966 | KANSL1 | c.3012T>A (p.Pro1004=) c.3009T>A (p.Pro1003=) c.2820T>A (p.Pro940=) c.669T>A (p.Pro223=) n.429T>A c.2880T>A (p.Pro960=) n.7229T>A n.442T>A n.984T>A c.2910T>A (p.Pro970=) c.2823T>A (p.Pro941=) c.1782T>A (p.Pro594=) | |
17 | g.46032126G>A | CA8618404 | KANSL1 | c.3011C>T (p.Pro1004Leu) c.3008C>T (p.Pro1003Leu) c.2819C>T (p.Pro940Leu) c.668C>T (p.Pro223Leu) n.428C>T c.2879C>T (p.Pro960Leu) n.7228C>T n.441C>T n.983C>T c.2909C>T (p.Pro970Leu) c.2822C>T (p.Pro941Leu) c.1781C>T (p.Pro594Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032126G>C | CA399986548 | KANSL1 | c.3011C>G (p.Pro1004Arg) c.3008C>G (p.Pro1003Arg) c.2819C>G (p.Pro940Arg) c.668C>G (p.Pro223Arg) n.428C>G c.2879C>G (p.Pro960Arg) n.7228C>G n.441C>G n.983C>G c.2909C>G (p.Pro970Arg) c.2822C>G (p.Pro941Arg) c.1781C>G (p.Pro594Arg) | |
17 | g.46032126G= | CA2262111014 | KANSL1 | c.3011C= (p.Pro1004=) c.3008C= (p.Pro1003=) c.2819C= (p.Pro940=) c.668C= (p.Pro223=) n.428C= c.2879C= (p.Pro960=) n.7228C= n.441C= n.983C= c.2909C= (p.Pro970=) c.2822C= (p.Pro941=) c.1781C= (p.Pro594=) | |
17 | g.46032126G>T | CA399986550 | KANSL1 | c.3011C>A (p.Pro1004His) c.3008C>A (p.Pro1003His) c.2819C>A (p.Pro940His) c.668C>A (p.Pro223His) n.428C>A c.2879C>A (p.Pro960His) n.7228C>A n.441C>A n.983C>A c.2909C>A (p.Pro970His) c.2822C>A (p.Pro941His) c.1781C>A (p.Pro594His) | |
17 | g.46032129del | CA2573054461 | KANSL1 | c.3011del (p.Pro1004LeufsTer10) c.3008del (p.Pro1003LeufsTer10) c.2819del (p.Pro940LeufsTer10) c.668del (p.Pro223LeufsTer?) n.428del c.2879del (p.Pro960LeufsTer10) n.7228del n.441del n.983del c.2909del (p.Pro970LeufsTer10) c.2822del (p.Pro941LeufsTer10) c.1781del (p.Pro594LeufsTer10) | ClinVar dbSNP |
17 | g.46032127_46032136del | CA2638372199 | KANSL1 | c.3002_3011del (p.Pro1001LeufsTer10) c.2999_3008del (p.Pro1000LeufsTer10) c.2810_2819del (p.Pro937LeufsTer10) c.659_668del (p.Pro220LeufsTer?) n.419_428del c.2870_2879del (p.Pro957LeufsTer10) n.7219_7228del n.432_441del n.974_983del c.2900_2909del (p.Pro967LeufsTer10) c.2813_2822del (p.Pro938LeufsTer10) c.1772_1781del (p.Pro591LeufsTer10) | gnomAD v4 |
17 | g.46032127G>A | CA399986554 | KANSL1 | c.3010C>T (p.Pro1004Ser) c.3007C>T (p.Pro1003Ser) c.2818C>T (p.Pro940Ser) c.667C>T (p.Pro223Ser) n.427C>T c.2878C>T (p.Pro960Ser) n.7227C>T n.440C>T n.982C>T c.2908C>T (p.Pro970Ser) c.2821C>T (p.Pro941Ser) c.1780C>T (p.Pro594Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46032127G>C | CA399986558 | KANSL1 | c.3010C>G (p.Pro1004Ala) c.3007C>G (p.Pro1003Ala) c.2818C>G (p.Pro940Ala) c.667C>G (p.Pro223Ala) n.427C>G c.2878C>G (p.Pro960Ala) n.7227C>G n.440C>G n.982C>G c.2908C>G (p.Pro970Ala) c.2821C>G (p.Pro941Ala) c.1780C>G (p.Pro594Ala) | |
17 | g.46032127G= | CA2262111015 | KANSL1 | c.3010C= (p.Pro1004=) c.3007C= (p.Pro1003=) c.2818C= (p.Pro940=) c.667C= (p.Pro223=) n.427C= c.2878C= (p.Pro960=) n.7227C= n.440C= n.982C= c.2908C= (p.Pro970=) c.2821C= (p.Pro941=) c.1780C= (p.Pro594=) | |
17 | g.46032127G>T | CA399986561 | KANSL1 | c.3010C>A (p.Pro1004Thr) c.3007C>A (p.Pro1003Thr) c.2818C>A (p.Pro940Thr) c.667C>A (p.Pro223Thr) n.427C>A c.2878C>A (p.Pro960Thr) n.7227C>A n.440C>A n.982C>A c.2908C>A (p.Pro970Thr) c.2821C>A (p.Pro941Thr) c.1780C>A (p.Pro594Thr) | |
17 | g.46032128G>A | CA500371969 | KANSL1 | c.3009C>T (p.Thr1003=) c.3006C>T (p.Thr1002=) c.2817C>T (p.Thr939=) c.666C>T (p.Thr222=) n.426C>T c.2877C>T (p.Thr959=) n.7226C>T n.439C>T n.981C>T c.2907C>T (p.Thr969=) c.2820C>T (p.Thr940=) c.1779C>T (p.Thr593=) | |
17 | g.46032128G>C | CA500371968 | KANSL1 | c.3009C>G (p.Thr1003=) c.3006C>G (p.Thr1002=) c.2817C>G (p.Thr939=) c.666C>G (p.Thr222=) n.426C>G c.2877C>G (p.Thr959=) n.7226C>G n.439C>G n.981C>G c.2907C>G (p.Thr969=) c.2820C>G (p.Thr940=) c.1779C>G (p.Thr593=) | |
17 | g.46032128G>T | CA500371970 | KANSL1 | c.3009C>A (p.Thr1003=) c.3006C>A (p.Thr1002=) c.2817C>A (p.Thr939=) c.666C>A (p.Thr222=) n.426C>A c.2877C>A (p.Thr959=) n.7226C>A n.439C>A n.981C>A c.2907C>A (p.Thr969=) c.2820C>A (p.Thr940=) c.1779C>A (p.Thr593=) | |
17 | g.46032129G>A | CA16608481 | KANSL1 | c.3008C>T (p.Thr1003Ile) c.3005C>T (p.Thr1002Ile) c.2816C>T (p.Thr939Ile) c.665C>T (p.Thr222Ile) n.425C>T c.2876C>T (p.Thr959Ile) n.7225C>T n.438C>T n.980C>T c.2906C>T (p.Thr969Ile) c.2819C>T (p.Thr940Ile) c.1778C>T (p.Thr593Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032129G>C | CA8618405 | KANSL1 | c.3008C>G (p.Thr1003Ser) c.3005C>G (p.Thr1002Ser) c.2816C>G (p.Thr939Ser) c.665C>G (p.Thr222Ser) n.425C>G c.2876C>G (p.Thr959Ser) n.7225C>G n.438C>G n.980C>G c.2906C>G (p.Thr969Ser) c.2819C>G (p.Thr940Ser) c.1778C>G (p.Thr593Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46032129G= | CA2262111016 | KANSL1 | c.3008C= (p.Thr1003=) c.3005C= (p.Thr1002=) c.2816C= (p.Thr939=) c.665C= (p.Thr222=) n.425C= c.2876C= (p.Thr959=) n.7225C= n.438C= n.980C= c.2906C= (p.Thr969=) c.2819C= (p.Thr940=) c.1778C= (p.Thr593=) | |
17 | g.46032129G>T | CA399986565 | KANSL1 | c.3008C>A (p.Thr1003Asn) c.3005C>A (p.Thr1002Asn) c.2816C>A (p.Thr939Asn) c.665C>A (p.Thr222Asn) n.425C>A c.2876C>A (p.Thr959Asn) n.7225C>A n.438C>A n.980C>A c.2906C>A (p.Thr969Asn) c.2819C>A (p.Thr940Asn) c.1778C>A (p.Thr593Asn) | |
17 | g.46032130T>A | CA399986569 | KANSL1 | c.3007A>T (p.Thr1003Ser) c.3004A>T (p.Thr1002Ser) c.2815A>T (p.Thr939Ser) c.664A>T (p.Thr222Ser) n.424A>T c.2875A>T (p.Thr959Ser) n.7224A>T n.437A>T n.979A>T c.2905A>T (p.Thr969Ser) c.2818A>T (p.Thr940Ser) c.1777A>T (p.Thr593Ser) | |
17 | g.46032130T>C | CA399986570 | KANSL1 | c.3007A>G (p.Thr1003Ala) c.3004A>G (p.Thr1002Ala) c.2815A>G (p.Thr939Ala) c.664A>G (p.Thr222Ala) n.424A>G c.2875A>G (p.Thr959Ala) n.7224A>G n.437A>G n.979A>G c.2905A>G (p.Thr969Ala) c.2818A>G (p.Thr940Ala) c.1777A>G (p.Thr593Ala) | |
17 | g.46032130T>G | CA399986574 | KANSL1 | c.3007A>C (p.Thr1003Pro) c.3004A>C (p.Thr1002Pro) c.2815A>C (p.Thr939Pro) c.664A>C (p.Thr222Pro) n.424A>C c.2875A>C (p.Thr959Pro) n.7224A>C n.437A>C n.979A>C c.2905A>C (p.Thr969Pro) c.2818A>C (p.Thr940Pro) c.1777A>C (p.Thr593Pro) | dbSNP |
17 | g.46032131G>A | CA500371972 | KANSL1 | c.3006C>T (p.Leu1002=) c.3003C>T (p.Leu1001=) c.2814C>T (p.Leu938=) c.663C>T (p.Leu221=) n.423C>T c.2874C>T (p.Leu958=) n.7223C>T n.436C>T n.978C>T c.2904C>T (p.Leu968=) c.2817C>T (p.Leu939=) c.1776C>T (p.Leu592=) | dbSNP gnomAD v4 COSMIC |
17 | g.46032131G>C | CA500371973 | KANSL1 | c.3006C>G (p.Leu1002=) c.3003C>G (p.Leu1001=) c.2814C>G (p.Leu938=) c.663C>G (p.Leu221=) n.423C>G c.2874C>G (p.Leu958=) n.7223C>G n.436C>G n.978C>G c.2904C>G (p.Leu968=) c.2817C>G (p.Leu939=) c.1776C>G (p.Leu592=) | |
17 | g.46032131G= | CA2262111017 | KANSL1 | c.3006C= (p.Leu1002=) c.3003C= (p.Leu1001=) c.2814C= (p.Leu938=) c.663C= (p.Leu221=) n.423C= c.2874C= (p.Leu958=) n.7223C= n.436C= n.978C= c.2904C= (p.Leu968=) c.2817C= (p.Leu939=) c.1776C= (p.Leu592=) | |
17 | g.46032131G>T | CA500371971 | KANSL1 | c.3006C>A (p.Leu1002=) c.3003C>A (p.Leu1001=) c.2814C>A (p.Leu938=) c.663C>A (p.Leu221=) n.423C>A c.2874C>A (p.Leu958=) n.7223C>A n.436C>A n.978C>A c.2904C>A (p.Leu968=) c.2817C>A (p.Leu939=) c.1776C>A (p.Leu592=) | |
17 | g.46032132A>C | CA399986577 | KANSL1 | c.3005T>G (p.Leu1002Arg) c.3002T>G (p.Leu1001Arg) c.2813T>G (p.Leu938Arg) c.662T>G (p.Leu221Arg) n.422T>G c.2873T>G (p.Leu958Arg) n.7222T>G n.435T>G n.977T>G c.2903T>G (p.Leu968Arg) c.2816T>G (p.Leu939Arg) c.1775T>G (p.Leu592Arg) | |
17 | g.46032132A>G | CA399986580 | KANSL1 | c.3005T>C (p.Leu1002Pro) c.3002T>C (p.Leu1001Pro) c.2813T>C (p.Leu938Pro) c.662T>C (p.Leu221Pro) n.422T>C c.2873T>C (p.Leu958Pro) n.7222T>C n.435T>C n.977T>C c.2903T>C (p.Leu968Pro) c.2816T>C (p.Leu939Pro) c.1775T>C (p.Leu592Pro) | |
17 | g.46032132A>T | CA399986583 | KANSL1 | c.3005T>A (p.Leu1002His) c.3002T>A (p.Leu1001His) c.2813T>A (p.Leu938His) c.662T>A (p.Leu221His) n.422T>A c.2873T>A (p.Leu958His) n.7222T>A n.435T>A n.977T>A c.2903T>A (p.Leu968His) c.2816T>A (p.Leu939His) c.1775T>A (p.Leu592His) | gnomAD v4 |
17 | g.46032133G>A | CA399986587 | KANSL1 | c.3004C>T (p.Leu1002Phe) c.3001C>T (p.Leu1001Phe) c.2812C>T (p.Leu938Phe) c.661C>T (p.Leu221Phe) n.421C>T c.2872C>T (p.Leu958Phe) n.7221C>T n.434C>T n.976C>T c.2902C>T (p.Leu968Phe) c.2815C>T (p.Leu939Phe) c.1774C>T (p.Leu592Phe) | ClinVar gnomAD v4 |
17 | g.46032133G>C | CA399986589 | KANSL1 | c.3004C>G (p.Leu1002Val) c.3001C>G (p.Leu1001Val) c.2812C>G (p.Leu938Val) c.661C>G (p.Leu221Val) n.421C>G c.2872C>G (p.Leu958Val) n.7221C>G n.434C>G n.976C>G c.2902C>G (p.Leu968Val) c.2815C>G (p.Leu939Val) c.1774C>G (p.Leu592Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.46032133G= | CA2262111018 | KANSL1 | c.3004C= (p.Leu1002=) c.3001C= (p.Leu1001=) c.2812C= (p.Leu938=) c.661C= (p.Leu221=) n.421C= c.2872C= (p.Leu958=) n.7221C= n.434C= n.976C= c.2902C= (p.Leu968=) c.2815C= (p.Leu939=) c.1774C= (p.Leu592=) | |
17 | g.46032133G>T | CA399986592 | KANSL1 | c.3004C>A (p.Leu1002Ile) c.3001C>A (p.Leu1001Ile) c.2812C>A (p.Leu938Ile) c.661C>A (p.Leu221Ile) n.421C>A c.2872C>A (p.Leu958Ile) n.7221C>A n.434C>A n.976C>A c.2902C>A (p.Leu968Ile) c.2815C>A (p.Leu939Ile) c.1774C>A (p.Leu592Ile) | |
17 | g.46032134G>A | CA8618406 | KANSL1 | c.3003C>T (p.Pro1001=) c.3000C>T (p.Pro1000=) c.2811C>T (p.Pro937=) c.660C>T (p.Pro220=) n.420C>T c.2871C>T (p.Pro957=) n.7220C>T n.433C>T n.975C>T c.2901C>T (p.Pro967=) c.2814C>T (p.Pro938=) c.1773C>T (p.Pro591=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46032134G>C | CA500371976 | KANSL1 | c.3003C>G (p.Pro1001=) c.3000C>G (p.Pro1000=) c.2811C>G (p.Pro937=) c.660C>G (p.Pro220=) n.420C>G c.2871C>G (p.Pro957=) n.7220C>G n.433C>G n.975C>G c.2901C>G (p.Pro967=) c.2814C>G (p.Pro938=) c.1773C>G (p.Pro591=) | |
17 | g.46032134G= | CA2262111019 | KANSL1 | c.3003C= (p.Pro1001=) c.3000C= (p.Pro1000=) c.2811C= (p.Pro937=) c.660C= (p.Pro220=) n.420C= c.2871C= (p.Pro957=) n.7220C= n.433C= n.975C= c.2901C= (p.Pro967=) c.2814C= (p.Pro938=) c.1773C= (p.Pro591=) | |
17 | g.46032134G>T | CA500371975 | KANSL1 | c.3003C>A (p.Pro1001=) c.3000C>A (p.Pro1000=) c.2811C>A (p.Pro937=) c.660C>A (p.Pro220=) n.420C>A c.2871C>A (p.Pro957=) n.7220C>A n.433C>A n.975C>A c.2901C>A (p.Pro967=) c.2814C>A (p.Pro938=) c.1773C>A (p.Pro591=) | |
17 | g.46032135G>A | CA16607657 | KANSL1 | c.3002C>T (p.Pro1001Leu) c.2999C>T (p.Pro1000Leu) c.2810C>T (p.Pro937Leu) c.659C>T (p.Pro220Leu) n.419C>T c.2870C>T (p.Pro957Leu) n.7219C>T n.432C>T n.974C>T c.2900C>T (p.Pro967Leu) c.2813C>T (p.Pro938Leu) c.1772C>T (p.Pro591Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46032135G>C | CA399986601 | KANSL1 | c.3002C>G (p.Pro1001Arg) c.2999C>G (p.Pro1000Arg) c.2810C>G (p.Pro937Arg) c.659C>G (p.Pro220Arg) n.419C>G c.2870C>G (p.Pro957Arg) n.7219C>G n.432C>G n.974C>G c.2900C>G (p.Pro967Arg) c.2813C>G (p.Pro938Arg) c.1772C>G (p.Pro591Arg) | |
17 | g.46032135G= | CA2262111020 | KANSL1 | c.3002C= (p.Pro1001=) c.2999C= (p.Pro1000=) c.2810C= (p.Pro937=) c.659C= (p.Pro220=) n.419C= c.2870C= (p.Pro957=) n.7219C= n.432C= n.974C= c.2900C= (p.Pro967=) c.2813C= (p.Pro938=) c.1772C= (p.Pro591=) | |
17 | g.46032135G>T | CA399986599 | KANSL1 | c.3002C>A (p.Pro1001His) c.2999C>A (p.Pro1000His) c.2810C>A (p.Pro937His) c.659C>A (p.Pro220His) n.419C>A c.2870C>A (p.Pro957His) n.7219C>A n.432C>A n.974C>A c.2900C>A (p.Pro967His) c.2813C>A (p.Pro938His) c.1772C>A (p.Pro591His) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46032136G>A | CA399986606 | KANSL1 | c.3001C>T (p.Pro1001Ser) c.2998C>T (p.Pro1000Ser) c.2809C>T (p.Pro937Ser) c.658C>T (p.Pro220Ser) n.418C>T c.2869C>T (p.Pro957Ser) n.7218C>T n.431C>T n.973C>T c.2899C>T (p.Pro967Ser) c.2812C>T (p.Pro938Ser) c.1771C>T (p.Pro591Ser) | |
17 | g.46032136G>C | CA399986608 | KANSL1 | c.3001C>G (p.Pro1001Ala) c.2998C>G (p.Pro1000Ala) c.2809C>G (p.Pro937Ala) c.658C>G (p.Pro220Ala) n.418C>G c.2869C>G (p.Pro957Ala) n.7218C>G n.431C>G n.973C>G c.2899C>G (p.Pro967Ala) c.2812C>G (p.Pro938Ala) c.1771C>G (p.Pro591Ala) | |
17 | g.46032136G>T | CA399986611 | KANSL1 | c.3001C>A (p.Pro1001Thr) c.2998C>A (p.Pro1000Thr) c.2809C>A (p.Pro937Thr) c.658C>A (p.Pro220Thr) n.418C>A c.2869C>A (p.Pro957Thr) n.7218C>A n.431C>A n.973C>A c.2899C>A (p.Pro967Thr) c.2812C>A (p.Pro938Thr) c.1771C>A (p.Pro591Thr) | |
17 | g.46032137T>A | CA500371978 | KANSL1 | c.3000A>T (p.Ala1000=) c.2997A>T (p.Ala999=) c.2808A>T (p.Ala936=) c.657A>T (p.Ala219=) n.417A>T c.2868A>T (p.Ala956=) n.7217A>T n.430A>T n.972A>T c.2898A>T (p.Ala966=) c.2811A>T (p.Ala937=) c.1770A>T (p.Ala590=) | |
17 | g.46032137T>C | CA500371979 | KANSL1 | c.3000A>G (p.Ala1000=) c.2997A>G (p.Ala999=) c.2808A>G (p.Ala936=) c.657A>G (p.Ala219=) n.417A>G c.2868A>G (p.Ala956=) n.7217A>G n.430A>G n.972A>G c.2898A>G (p.Ala966=) c.2811A>G (p.Ala937=) c.1770A>G (p.Ala590=) | |
17 | g.46032137T>G | CA500371977 | KANSL1 | c.3000A>C (p.Ala1000=) c.2997A>C (p.Ala999=) c.2808A>C (p.Ala936=) c.657A>C (p.Ala219=) n.417A>C c.2868A>C (p.Ala956=) n.7217A>C n.430A>C n.972A>C c.2898A>C (p.Ala966=) c.2811A>C (p.Ala937=) c.1770A>C (p.Ala590=) | gnomAD v3 gnomAD v4 |
17 | g.46032138G>A | CA399986614 | KANSL1 | c.2999C>T (p.Ala1000Val) c.2996C>T (p.Ala999Val) c.2807C>T (p.Ala936Val) c.656C>T (p.Ala219Val) n.416C>T c.2867C>T (p.Ala956Val) n.7216C>T n.429C>T n.971C>T c.2897C>T (p.Ala966Val) c.2810C>T (p.Ala937Val) c.1769C>T (p.Ala590Val) | |
17 | g.46032138G>C | CA399986617 | KANSL1 | c.2999C>G (p.Ala1000Gly) c.2996C>G (p.Ala999Gly) c.2807C>G (p.Ala936Gly) c.656C>G (p.Ala219Gly) n.416C>G c.2867C>G (p.Ala956Gly) n.7216C>G n.429C>G n.971C>G c.2897C>G (p.Ala966Gly) c.2810C>G (p.Ala937Gly) c.1769C>G (p.Ala590Gly) | |
17 | g.46032138G>T | CA399986619 | KANSL1 | c.2999C>A (p.Ala1000Glu) c.2996C>A (p.Ala999Glu) c.2807C>A (p.Ala936Glu) c.656C>A (p.Ala219Glu) n.416C>A c.2867C>A (p.Ala956Glu) n.7216C>A n.429C>A n.971C>A c.2897C>A (p.Ala966Glu) c.2810C>A (p.Ala937Glu) c.1769C>A (p.Ala590Glu) | |
17 | g.46032139C>A | CA399986623 | KANSL1 | c.2998G>T (p.Ala1000Ser) c.2995G>T (p.Ala999Ser) c.2806G>T (p.Ala936Ser) c.655G>T (p.Ala219Ser) n.415G>T c.2866G>T (p.Ala956Ser) n.7215G>T n.428G>T n.970G>T c.2896G>T (p.Ala966Ser) c.2809G>T (p.Ala937Ser) c.1768G>T (p.Ala590Ser) | |
17 | g.46032139C>G | CA399986625 | KANSL1 | c.2998G>C (p.Ala1000Pro) c.2995G>C (p.Ala999Pro) c.2806G>C (p.Ala936Pro) c.655G>C (p.Ala219Pro) n.415G>C c.2866G>C (p.Ala956Pro) n.7215G>C n.428G>C n.970G>C c.2896G>C (p.Ala966Pro) c.2809G>C (p.Ala937Pro) c.1768G>C (p.Ala590Pro) | |
17 | g.46032139C>T | CA399986629 | KANSL1 | c.2998G>A (p.Ala1000Thr) c.2995G>A (p.Ala999Thr) c.2806G>A (p.Ala936Thr) c.655G>A (p.Ala219Thr) n.415G>A c.2866G>A (p.Ala956Thr) n.7215G>A n.428G>A n.970G>A c.2896G>A (p.Ala966Thr) c.2809G>A (p.Ala937Thr) c.1768G>A (p.Ala590Thr) | ClinVar |
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) | |
17 | g.46032155G>A | CA500371991 | KANSL1 | c.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=) | |
17 | g.46032155G>C | CA399986733 | KANSL1 | c.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) | |
17 | g.46032155G>T | CA399986736 | KANSL1 | c.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) | |
17 | g.46032156C>A | CA399986740 | KANSL1 | c.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 |
17 | g.46032156C>G | CA399986743 | KANSL1 | c.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) | |
17 | g.46032156C>T | CA399986746 | KANSL1 | c.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) | |
17 | g.46032157T>A | CA399986749 | KANSL1 | c.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) | |
17 | g.46032157T>C | CA399986751 | KANSL1 | c.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 |
17 | g.46032157T>G | CA399986754 | KANSL1 | c.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) | |
17 | g.46032158A>C | CA399986758 | KANSL1 | c.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) | |
17 | g.46032158A>G | CA500371992 | KANSL1 | c.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 |
17 | g.46032158A>T | CA500371993 | KANSL1 | c.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=) | |
17 | g.46032159A>C | CA399986762 | KANSL1 | c.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) | |
17 | g.46032159A>G | CA399986764 | KANSL1 | c.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) | |
17 | g.46032159A>T | CA399986767 | KANSL1 | c.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) | |
17 | g.46032160T>A | CA399986770 | KANSL1 | c.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) | |
17 | g.46032160T>C | CA399986772 | KANSL1 | c.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) | |
17 | g.46032160T>G | CA399986774 | KANSL1 | c.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) | |
17 | g.46032161G>A | CA500371994 | KANSL1 | c.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=) | |
17 | g.46032161G>C | CA500371995 | KANSL1 | c.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 |
17 | g.46032161G>T | CA500371996 | KANSL1 | c.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=) | |
17 | g.46032164dup | CA2841630697 | KANSL1 | c.2976dup (p.Ile993HisfsTer2) c.2973dup (p.Ile992HisfsTer2) c.2784dup (p.Ile929HisfsTer2) c.633dup (p.Ile212HisfsTer2) n.393dup c.2844dup (p.Ile949HisfsTer2) n.7193dup n.406dup n.948dup c.2874dup (p.Ile959HisfsTer2) c.2787dup (p.Ile930HisfsTer2) c.1746dup (p.Ile583HisfsTer2) | |
17 | g.46032162G>A | CA399986777 | KANSL1 | c.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) | |
17 | g.46032162G>C | CA399986781 | KANSL1 | c.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) | |
17 | g.46032162G>T | CA399986778 | KANSL1 | c.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) | |
17 | g.46032163G>A | CA399986784 | KANSL1 | c.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 |
17 | g.46032163G>C | CA399986786 | KANSL1 | c.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) | |
17 | g.46032163G= | CA2262111026 | KANSL1 | c.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=) | |
17 | g.46032163G>T | CA399986789 | KANSL1 | c.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) | |
17 | g.46032164G>A | CA500371997 | KANSL1 | c.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=) | |
17 | g.46032164G>C | CA399986793 | KANSL1 | c.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) | |
17 | g.46032164G>T | CA399986796 | KANSL1 | c.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) | |
17 | g.46032165C>A | CA399986800 | KANSL1 | c.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) | |
17 | g.46032165C>G | CA399986801 | KANSL1 | c.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) | |
17 | g.46032165C>T | CA399986805 | KANSL1 | c.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) | |
17 | g.46032166T>A | CA399986808 | KANSL1 | c.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) | |
17 | g.46032166T>C | CA399986810 | KANSL1 | c.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) | |
17 | g.46032166T>G | CA399986813 | KANSL1 | c.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) | |
17 | g.46032167C>A | CA399986816 | KANSL1 | c.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 |
17 | g.46032167C= | CA2262111027 | KANSL1 | c.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=) | |
17 | g.46032167C>G | CA399986817 | KANSL1 | c.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 |
17 | g.46032167C>T | CA500371998 | KANSL1 | c.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=) | |
17 | g.46032168C>A | CA399986827 | KANSL1 | c.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) | |
17 | g.46032168C>G | CA399986820 | KANSL1 | c.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) | |
17 | g.46032168C>T | CA399986824 | KANSL1 | c.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) | |
17 | g.46032169T>A | CA399986831 | KANSL1 | c.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) | |
17 | g.46032169T>C | CA399986833 | KANSL1 | c.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) | |
17 | g.46032169T>G | CA500371999 | KANSL1 | c.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=) | |
17 | g.46032170A>C | CA500372001 | KANSL1 | c.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=) | |
17 | g.46032170A>G | CA500372000 | KANSL1 | c.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=) | |
17 | g.46032170A>T | CA500372002 | KANSL1 | c.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=) | |
17 | g.46032171G>A | CA399986837 | KANSL1 | c.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 |
17 | g.46032171G>C | CA399986840 | KANSL1 | c.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 |
17 | g.46032171G>T | CA399986842 | KANSL1 | c.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) | |
17 | g.46032172G>A | CA399986846 | KANSL1 | c.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) | |
17 | g.46032172G>C | CA399986848 | KANSL1 | c.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) | |
17 | g.46032172G= | CA2262111028 | KANSL1 | c.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=) | |
17 | g.46032172G>T | CA399986852 | KANSL1 | c.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 |
17 | g.46032173G>A | CA500372004 | KANSL1 | c.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=) | |
17 | g.46032173G>C | CA500372003 | KANSL1 | c.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=) | |
17 | g.46032173G>T | CA500372005 | KANSL1 | c.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=) | |
17 | g.46032174G>A | CA399986855 | KANSL1 | c.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) | |
17 | g.46032174G>C | CA399986857 | KANSL1 | c.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) | |
17 | g.46032174G>T | CA399986860 | KANSL1 | c.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 |
17 | g.46032175A>C | CA399986865 | KANSL1 | c.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) | |
17 | g.46032175A>G | CA399986870 | KANSL1 | c.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) | |
17 | g.46032175A>T | CA399986867 | KANSL1 | c.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) | |
17 | g.46032176C>A | CA399986882 | KANSL1 | c.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) | |
17 | g.46032176C>G | CA399986886 | KANSL1 | c.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) | |
17 | g.46032176C>T | CA500372006 | KANSL1 | c.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=) | |
17 | g.46032177T>A | CA399986889 | KANSL1 | c.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) | |
17 | g.46032177T>C | CA399986893 | KANSL1 | c.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 |
17 | g.46032177T>G | CA399986895 | KANSL1 | c.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) | |
17 | g.46032177T= | CA2262111029 | KANSL1 | c.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=) | |
17 | g.46032178G>A | CA399986899 | KANSL1 | c.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) | |
17 | g.46032178G>C | CA399986902 | KANSL1 | c.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) | |
17 | g.46032178G>T | CA399986903 | KANSL1 | c.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) | |
17 | g.46032179A= | CA2262111030 | KANSL1 | c.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=) | |
17 | g.46032179A>C | CA8618410 | KANSL1 | c.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 |
17 | g.46032179A>G | CA500372007 | KANSL1 | c.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 |
17 | g.46032179A>T | CA500372008 | KANSL1 | c.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=) | |
17 | g.46032179_46032181delinsACC | CA2262111031 | KANSL1 | c.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=) | |
17 | g.46032180C>A | CA399986913 | KANSL1 | c.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) | |
17 | g.46032180C= | CA2262111032 | KANSL1 | c.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=) | |
17 | g.46032180C>G | CA291125908 | KANSL1 | c.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 |
17 | g.46032180C>T | CA399986910 | KANSL1 | c.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) | |
17 | g.46032180_46032181del | CA915950166 | KANSL1 | c.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 |
17 | g.46032181C>A | CA399986915 | KANSL1 | c.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) | |
17 | g.46032181C>G | CA399986917 | KANSL1 | c.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) | |
17 | g.46032181C>T | CA399986923 | KANSL1 | c.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 |