Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.46031531A>C | CA399985641 | KANSL1 | c.3263T>G (p.Leu1088Arg) c.3260T>G (p.Leu1087Arg) c.3071T>G (p.Leu1024Arg) c.3131T>G (p.Leu1044Arg) n.7480T>G n.1036T>G n.1235T>G c.3161T>G (p.Leu1054Arg) c.3074T>G (p.Leu1025Arg) c.2033T>G (p.Leu678Arg) | |
17 | g.46031531A>G | CA399985643 | KANSL1 | c.3263T>C (p.Leu1088Pro) c.3260T>C (p.Leu1087Pro) c.3071T>C (p.Leu1024Pro) c.3131T>C (p.Leu1044Pro) n.7480T>C n.1036T>C n.1235T>C c.3161T>C (p.Leu1054Pro) c.3074T>C (p.Leu1025Pro) c.2033T>C (p.Leu678Pro) | |
17 | g.46031531A>T | CA399985645 | KANSL1 | c.3263T>A (p.Leu1088His) c.3260T>A (p.Leu1087His) c.3071T>A (p.Leu1024His) c.3131T>A (p.Leu1044His) n.7480T>A n.1036T>A n.1235T>A c.3161T>A (p.Leu1054His) c.3074T>A (p.Leu1025His) c.2033T>A (p.Leu678His) | |
17 | g.46031532G>A | CA399985650 | KANSL1 | c.3262C>T (p.Leu1088Phe) c.3259C>T (p.Leu1087Phe) c.3070C>T (p.Leu1024Phe) c.3130C>T (p.Leu1044Phe) n.7479C>T n.1035C>T n.1234C>T c.3160C>T (p.Leu1054Phe) c.3073C>T (p.Leu1025Phe) c.2032C>T (p.Leu678Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031532G>C | CA399985648 | KANSL1 | c.3262C>G (p.Leu1088Val) c.3259C>G (p.Leu1087Val) c.3070C>G (p.Leu1024Val) c.3130C>G (p.Leu1044Val) n.7479C>G n.1035C>G n.1234C>G c.3160C>G (p.Leu1054Val) c.3073C>G (p.Leu1025Val) c.2032C>G (p.Leu678Val) | |
17 | g.46031532G= | CA2262110726 | KANSL1 | c.3262C= (p.Leu1088=) c.3259C= (p.Leu1087=) c.3070C= (p.Leu1024=) c.3130C= (p.Leu1044=) n.7479C= n.1035C= n.1234C= c.3160C= (p.Leu1054=) c.3073C= (p.Leu1025=) c.2032C= (p.Leu678=) | |
17 | g.46031532G>T | CA399985649 | KANSL1 | c.3262C>A (p.Leu1088Ile) c.3259C>A (p.Leu1087Ile) c.3070C>A (p.Leu1024Ile) c.3130C>A (p.Leu1044Ile) n.7479C>A n.1035C>A n.1234C>A c.3160C>A (p.Leu1054Ile) c.3073C>A (p.Leu1025Ile) c.2032C>A (p.Leu678Ile) | |
17 | g.46031536dup | CA2832565436 | KANSL1 | c.3262dup (p.Leu1088ProfsTer30) c.3259dup (p.Leu1087ProfsTer30) c.3070dup (p.Leu1024ProfsTer30) c.3130dup (p.Leu1044ProfsTer30) n.7479dup n.1035dup n.1234dup c.3160dup (p.Leu1054ProfsTer30) c.3073dup (p.Leu1025ProfsTer30) c.2032dup (p.Leu678ProfsTer30) | |
17 | g.46031533G>A | CA500371619 | KANSL1 | c.3261C>T (p.Pro1087=) c.3258C>T (p.Pro1086=) c.3069C>T (p.Pro1023=) c.3129C>T (p.Pro1043=) n.7478C>T n.1034C>T n.1233C>T c.3159C>T (p.Pro1053=) c.3072C>T (p.Pro1024=) c.2031C>T (p.Pro677=) | COSMIC |
17 | g.46031533G>C | CA500371618 | KANSL1 | c.3261C>G (p.Pro1087=) c.3258C>G (p.Pro1086=) c.3069C>G (p.Pro1023=) c.3129C>G (p.Pro1043=) n.7478C>G n.1034C>G n.1233C>G c.3159C>G (p.Pro1053=) c.3072C>G (p.Pro1024=) c.2031C>G (p.Pro677=) | |
17 | g.46031533G>T | CA500371620 | KANSL1 | c.3261C>A (p.Pro1087=) c.3258C>A (p.Pro1086=) c.3069C>A (p.Pro1023=) c.3129C>A (p.Pro1043=) n.7478C>A n.1034C>A n.1233C>A c.3159C>A (p.Pro1053=) c.3072C>A (p.Pro1024=) c.2031C>A (p.Pro677=) | gnomAD v4 |
17 | g.46031534G>A | CA8618333 | KANSL1 | c.3260C>T (p.Pro1087Leu) c.3257C>T (p.Pro1086Leu) c.3068C>T (p.Pro1023Leu) c.3128C>T (p.Pro1043Leu) n.7477C>T n.1033C>T n.1232C>T c.3158C>T (p.Pro1053Leu) c.3071C>T (p.Pro1024Leu) c.2030C>T (p.Pro677Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031534G>C | CA399985655 | KANSL1 | c.3260C>G (p.Pro1087Arg) c.3257C>G (p.Pro1086Arg) c.3068C>G (p.Pro1023Arg) c.3128C>G (p.Pro1043Arg) n.7477C>G n.1033C>G n.1232C>G c.3158C>G (p.Pro1053Arg) c.3071C>G (p.Pro1024Arg) c.2030C>G (p.Pro677Arg) | dbSNP |
17 | g.46031534G= | CA2262110727 | KANSL1 | c.3260C= (p.Pro1087=) c.3257C= (p.Pro1086=) c.3068C= (p.Pro1023=) c.3128C= (p.Pro1043=) n.7477C= n.1033C= n.1232C= c.3158C= (p.Pro1053=) c.3071C= (p.Pro1024=) c.2030C= (p.Pro677=) | |
17 | g.46031534G>T | CA399985657 | KANSL1 | c.3260C>A (p.Pro1087His) c.3257C>A (p.Pro1086His) c.3068C>A (p.Pro1023His) c.3128C>A (p.Pro1043His) n.7477C>A n.1033C>A n.1232C>A c.3158C>A (p.Pro1053His) c.3071C>A (p.Pro1024His) c.2030C>A (p.Pro677His) | dbSNP gnomAD v4 |
17 | g.46031535G>A | CA399985658 | KANSL1 | c.3259C>T (p.Pro1087Ser) c.3256C>T (p.Pro1086Ser) c.3067C>T (p.Pro1023Ser) c.3127C>T (p.Pro1043Ser) n.7476C>T n.1032C>T n.1231C>T c.3157C>T (p.Pro1053Ser) c.3070C>T (p.Pro1024Ser) c.2029C>T (p.Pro677Ser) | gnomAD v4 |
17 | g.46031535G>C | CA399985661 | KANSL1 | c.3259C>G (p.Pro1087Ala) c.3256C>G (p.Pro1086Ala) c.3067C>G (p.Pro1023Ala) c.3127C>G (p.Pro1043Ala) n.7476C>G n.1032C>G n.1231C>G c.3157C>G (p.Pro1053Ala) c.3070C>G (p.Pro1024Ala) c.2029C>G (p.Pro677Ala) | ClinVar dbSNP |
17 | g.46031535G= | CA2262110728 | KANSL1 | c.3259C= (p.Pro1087=) c.3256C= (p.Pro1086=) c.3067C= (p.Pro1023=) c.3127C= (p.Pro1043=) n.7476C= n.1032C= n.1231C= c.3157C= (p.Pro1053=) c.3070C= (p.Pro1024=) c.2029C= (p.Pro677=) | |
17 | g.46031535G>T | CA399985663 | KANSL1 | c.3259C>A (p.Pro1087Thr) c.3256C>A (p.Pro1086Thr) c.3067C>A (p.Pro1023Thr) c.3127C>A (p.Pro1043Thr) n.7476C>A n.1032C>A n.1231C>A c.3157C>A (p.Pro1053Thr) c.3070C>A (p.Pro1024Thr) c.2029C>A (p.Pro677Thr) | |
17 | g.46031536G>A | CA8618334 | KANSL1 | c.3258C>T (p.Val1086=) c.3255C>T (p.Val1085=) c.3066C>T (p.Val1022=) c.3126C>T (p.Val1042=) n.7475C>T n.1031C>T n.1230C>T c.3156C>T (p.Val1052=) c.3069C>T (p.Val1023=) c.2028C>T (p.Val676=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031536G>C | CA500371622 | KANSL1 | c.3258C>G (p.Val1086=) c.3255C>G (p.Val1085=) c.3066C>G (p.Val1022=) c.3126C>G (p.Val1042=) n.7475C>G n.1031C>G n.1230C>G c.3156C>G (p.Val1052=) c.3069C>G (p.Val1023=) c.2028C>G (p.Val676=) | gnomAD v4 |
17 | g.46031536G= | CA2262110729 | KANSL1 | c.3258C= (p.Val1086=) c.3255C= (p.Val1085=) c.3066C= (p.Val1022=) c.3126C= (p.Val1042=) n.7475C= n.1031C= n.1230C= c.3156C= (p.Val1052=) c.3069C= (p.Val1023=) c.2028C= (p.Val676=) | |
17 | g.46031536G>T | CA500371621 | KANSL1 | c.3258C>A (p.Val1086=) c.3255C>A (p.Val1085=) c.3066C>A (p.Val1022=) c.3126C>A (p.Val1042=) n.7475C>A n.1031C>A n.1230C>A c.3156C>A (p.Val1052=) c.3069C>A (p.Val1023=) c.2028C>A (p.Val676=) | ClinVar gnomAD v4 |
17 | g.46031537A>C | CA399985668 | KANSL1 | c.3257T>G (p.Val1086Gly) c.3254T>G (p.Val1085Gly) c.3065T>G (p.Val1022Gly) c.3125T>G (p.Val1042Gly) n.7474T>G n.1030T>G n.1229T>G c.3155T>G (p.Val1052Gly) c.3068T>G (p.Val1023Gly) c.2027T>G (p.Val676Gly) | |
17 | g.46031537A>G | CA399985670 | KANSL1 | c.3257T>C (p.Val1086Ala) c.3254T>C (p.Val1085Ala) c.3065T>C (p.Val1022Ala) c.3125T>C (p.Val1042Ala) n.7474T>C n.1030T>C n.1229T>C c.3155T>C (p.Val1052Ala) c.3068T>C (p.Val1023Ala) c.2027T>C (p.Val676Ala) | |
17 | g.46031537A>T | CA399985671 | KANSL1 | c.3257T>A (p.Val1086Asp) c.3254T>A (p.Val1085Asp) c.3065T>A (p.Val1022Asp) c.3125T>A (p.Val1042Asp) n.7474T>A n.1030T>A n.1229T>A c.3155T>A (p.Val1052Asp) c.3068T>A (p.Val1023Asp) c.2027T>A (p.Val676Asp) | |
17 | g.46031538C>A | CA399985679 | KANSL1 | c.3256G>T (p.Val1086Phe) c.3253G>T (p.Val1085Phe) c.3064G>T (p.Val1022Phe) c.3124G>T (p.Val1042Phe) n.7473G>T n.1029G>T n.1228G>T c.3154G>T (p.Val1052Phe) c.3067G>T (p.Val1023Phe) c.2026G>T (p.Val676Phe) | gnomAD v4 |
17 | g.46031538C>G | CA399985677 | KANSL1 | c.3256G>C (p.Val1086Leu) c.3253G>C (p.Val1085Leu) c.3064G>C (p.Val1022Leu) c.3124G>C (p.Val1042Leu) n.7473G>C n.1029G>C n.1228G>C c.3154G>C (p.Val1052Leu) c.3067G>C (p.Val1023Leu) c.2026G>C (p.Val676Leu) | |
17 | g.46031538C>T | CA399985675 | KANSL1 | c.3256G>A (p.Val1086Ile) c.3253G>A (p.Val1085Ile) c.3064G>A (p.Val1022Ile) c.3124G>A (p.Val1042Ile) n.7473G>A n.1029G>A n.1228G>A c.3154G>A (p.Val1052Ile) c.3067G>A (p.Val1023Ile) c.2026G>A (p.Val676Ile) | |
17 | g.46031539A= | CA2262110730 | KANSL1 | c.3255T= (p.Ile1085=) c.3252T= (p.Ile1084=) c.3063T= (p.Ile1021=) c.3123T= (p.Ile1041=) n.7472T= n.1028T= n.1227T= c.3153T= (p.Ile1051=) c.3066T= (p.Ile1022=) c.2025T= (p.Ile675=) | |
17 | g.46031539A>C | CA399985681 | KANSL1 | c.3255T>G (p.Ile1085Met) c.3252T>G (p.Ile1084Met) c.3063T>G (p.Ile1021Met) c.3123T>G (p.Ile1041Met) n.7472T>G n.1028T>G n.1227T>G c.3153T>G (p.Ile1051Met) c.3066T>G (p.Ile1022Met) c.2025T>G (p.Ile675Met) | |
17 | g.46031539A>G | CA500371624 | KANSL1 | c.3255T>C (p.Ile1085=) c.3252T>C (p.Ile1084=) c.3063T>C (p.Ile1021=) c.3123T>C (p.Ile1041=) n.7472T>C n.1028T>C n.1227T>C c.3153T>C (p.Ile1051=) c.3066T>C (p.Ile1022=) c.2025T>C (p.Ile675=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.46031539A>T | CA500371623 | KANSL1 | c.3255T>A (p.Ile1085=) c.3252T>A (p.Ile1084=) c.3063T>A (p.Ile1021=) c.3123T>A (p.Ile1041=) n.7472T>A n.1028T>A n.1227T>A c.3153T>A (p.Ile1051=) c.3066T>A (p.Ile1022=) c.2025T>A (p.Ile675=) | |
17 | g.46031540A= | CA2262110731 | KANSL1 | c.3254T= (p.Ile1085=) c.3251T= (p.Ile1084=) c.3062T= (p.Ile1021=) c.3122T= (p.Ile1041=) n.7471T= n.1027T= n.1226T= c.3152T= (p.Ile1051=) c.3065T= (p.Ile1022=) c.2024T= (p.Ile675=) | |
17 | g.46031540A>C | CA399985684 | KANSL1 | c.3254T>G (p.Ile1085Ser) c.3251T>G (p.Ile1084Ser) c.3062T>G (p.Ile1021Ser) c.3122T>G (p.Ile1041Ser) n.7471T>G n.1027T>G n.1226T>G c.3152T>G (p.Ile1051Ser) c.3065T>G (p.Ile1022Ser) c.2024T>G (p.Ile675Ser) | |
17 | g.46031540A>G | CA8618335 | KANSL1 | c.3254T>C (p.Ile1085Thr) c.3251T>C (p.Ile1084Thr) c.3062T>C (p.Ile1021Thr) c.3122T>C (p.Ile1041Thr) n.7471T>C n.1027T>C n.1226T>C c.3152T>C (p.Ile1051Thr) c.3065T>C (p.Ile1022Thr) c.2024T>C (p.Ile675Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031540A>T | CA399985688 | KANSL1 | c.3254T>A (p.Ile1085Asn) c.3251T>A (p.Ile1084Asn) c.3062T>A (p.Ile1021Asn) c.3122T>A (p.Ile1041Asn) n.7471T>A n.1027T>A n.1226T>A c.3152T>A (p.Ile1051Asn) c.3065T>A (p.Ile1022Asn) c.2024T>A (p.Ile675Asn) | |
17 | g.46031541T>A | CA399985691 | KANSL1 | c.3253A>T (p.Ile1085Phe) c.3250A>T (p.Ile1084Phe) c.3061A>T (p.Ile1021Phe) c.3121A>T (p.Ile1041Phe) n.7470A>T n.1026A>T n.1225A>T c.3151A>T (p.Ile1051Phe) c.3064A>T (p.Ile1022Phe) c.2023A>T (p.Ile675Phe) | gnomAD v4 |
17 | g.46031541T>C | CA399985693 | KANSL1 | c.3253A>G (p.Ile1085Val) c.3250A>G (p.Ile1084Val) c.3061A>G (p.Ile1021Val) c.3121A>G (p.Ile1041Val) n.7470A>G n.1026A>G n.1225A>G c.3151A>G (p.Ile1051Val) c.3064A>G (p.Ile1022Val) c.2023A>G (p.Ile675Val) | |
17 | g.46031541T>G | CA399985695 | KANSL1 | c.3253A>C (p.Ile1085Leu) c.3250A>C (p.Ile1084Leu) c.3061A>C (p.Ile1021Leu) c.3121A>C (p.Ile1041Leu) n.7470A>C n.1026A>C n.1225A>C c.3151A>C (p.Ile1051Leu) c.3064A>C (p.Ile1022Leu) c.2023A>C (p.Ile675Leu) | |
17 | g.46031542G>A | CA500371626 | KANSL1 | c.3252C>T (p.Pro1084=) c.3249C>T (p.Pro1083=) c.3060C>T (p.Pro1020=) c.3120C>T (p.Pro1040=) n.7469C>T n.1025C>T n.1224C>T c.3150C>T (p.Pro1050=) c.3063C>T (p.Pro1021=) c.2022C>T (p.Pro674=) | dbSNP |
17 | g.46031542G>C | CA500371627 | KANSL1 | c.3252C>G (p.Pro1084=) c.3249C>G (p.Pro1083=) c.3060C>G (p.Pro1020=) c.3120C>G (p.Pro1040=) n.7469C>G n.1025C>G n.1224C>G c.3150C>G (p.Pro1050=) c.3063C>G (p.Pro1021=) c.2022C>G (p.Pro674=) | dbSNP |
17 | g.46031542G= | CA2262110732 | KANSL1 | c.3252C= (p.Pro1084=) c.3249C= (p.Pro1083=) c.3060C= (p.Pro1020=) c.3120C= (p.Pro1040=) n.7469C= n.1025C= n.1224C= c.3150C= (p.Pro1050=) c.3063C= (p.Pro1021=) c.2022C= (p.Pro674=) | |
17 | g.46031542G>T | CA500371625 | KANSL1 | c.3252C>A (p.Pro1084=) c.3249C>A (p.Pro1083=) c.3060C>A (p.Pro1020=) c.3120C>A (p.Pro1040=) n.7469C>A n.1025C>A n.1224C>A c.3150C>A (p.Pro1050=) c.3063C>A (p.Pro1021=) c.2022C>A (p.Pro674=) | |
17 | g.46031544dup | CA2838197184 | KANSL1 | c.3252dup (p.Ile1085HisfsTer?) c.3249dup (p.Ile1084HisfsTer?) c.3060dup (p.Ile1021HisfsTer?) c.3120dup (p.Ile1041HisfsTer?) n.7469dup n.1025dup n.1224dup c.3150dup (p.Ile1051HisfsTer?) c.3063dup (p.Ile1022HisfsTer?) c.2022dup (p.Ile675HisfsTer?) | |
17 | g.46031543G>A | CA399985698 | KANSL1 | c.3251C>T (p.Pro1084Leu) c.3248C>T (p.Pro1083Leu) c.3059C>T (p.Pro1020Leu) c.3119C>T (p.Pro1040Leu) n.7468C>T n.1024C>T n.1223C>T c.3149C>T (p.Pro1050Leu) c.3062C>T (p.Pro1021Leu) c.2021C>T (p.Pro674Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031543G>C | CA399985700 | KANSL1 | c.3251C>G (p.Pro1084Arg) c.3248C>G (p.Pro1083Arg) c.3059C>G (p.Pro1020Arg) c.3119C>G (p.Pro1040Arg) n.7468C>G n.1024C>G n.1223C>G c.3149C>G (p.Pro1050Arg) c.3062C>G (p.Pro1021Arg) c.2021C>G (p.Pro674Arg) | |
17 | g.46031543G= | CA2262110733 | KANSL1 | c.3251C= (p.Pro1084=) c.3248C= (p.Pro1083=) c.3059C= (p.Pro1020=) c.3119C= (p.Pro1040=) n.7468C= n.1024C= n.1223C= c.3149C= (p.Pro1050=) c.3062C= (p.Pro1021=) c.2021C= (p.Pro674=) | |
17 | g.46031543G>T | CA399985702 | KANSL1 | c.3251C>A (p.Pro1084His) c.3248C>A (p.Pro1083His) c.3059C>A (p.Pro1020His) c.3119C>A (p.Pro1040His) n.7468C>A n.1024C>A n.1223C>A c.3149C>A (p.Pro1050His) c.3062C>A (p.Pro1021His) c.2021C>A (p.Pro674His) | |
17 | g.46031544G>A | CA399985705 | KANSL1 | c.3250C>T (p.Pro1084Ser) c.3247C>T (p.Pro1083Ser) c.3058C>T (p.Pro1020Ser) c.3118C>T (p.Pro1040Ser) n.7467C>T n.1023C>T n.1222C>T c.3148C>T (p.Pro1050Ser) c.3061C>T (p.Pro1021Ser) c.2020C>T (p.Pro674Ser) | |
17 | g.46031544G>C | CA399985708 | KANSL1 | c.3250C>G (p.Pro1084Ala) c.3247C>G (p.Pro1083Ala) c.3058C>G (p.Pro1020Ala) c.3118C>G (p.Pro1040Ala) n.7467C>G n.1023C>G n.1222C>G c.3148C>G (p.Pro1050Ala) c.3061C>G (p.Pro1021Ala) c.2020C>G (p.Pro674Ala) | |
17 | g.46031544G>T | CA399985710 | KANSL1 | c.3250C>A (p.Pro1084Thr) c.3247C>A (p.Pro1083Thr) c.3058C>A (p.Pro1020Thr) c.3118C>A (p.Pro1040Thr) n.7467C>A n.1023C>A n.1222C>A c.3148C>A (p.Pro1050Thr) c.3061C>A (p.Pro1021Thr) c.2020C>A (p.Pro674Thr) | |
17 | g.46031545A>C | CA500371628 | KANSL1 | c.3249T>G (p.Pro1083=) c.3246T>G (p.Pro1082=) c.3057T>G (p.Pro1019=) c.3117T>G (p.Pro1039=) n.7466T>G n.1022T>G n.1221T>G c.3147T>G (p.Pro1049=) c.3060T>G (p.Pro1020=) c.2019T>G (p.Pro673=) | |
17 | g.46031545A>G | CA500371630 | KANSL1 | c.3249T>C (p.Pro1083=) c.3246T>C (p.Pro1082=) c.3057T>C (p.Pro1019=) c.3117T>C (p.Pro1039=) n.7466T>C n.1022T>C n.1221T>C c.3147T>C (p.Pro1049=) c.3060T>C (p.Pro1020=) c.2019T>C (p.Pro673=) | |
17 | g.46031545A>T | CA500371629 | KANSL1 | c.3249T>A (p.Pro1083=) c.3246T>A (p.Pro1082=) c.3057T>A (p.Pro1019=) c.3117T>A (p.Pro1039=) n.7466T>A n.1022T>A n.1221T>A c.3147T>A (p.Pro1049=) c.3060T>A (p.Pro1020=) c.2019T>A (p.Pro673=) | |
17 | g.46031545_46031546insC | CA2638370768 | KANSL1 | c.3248_3249insG (p.Pro1084SerfsTer?) c.3245_3246insG (p.Pro1083SerfsTer?) c.3056_3057insG (p.Pro1020SerfsTer?) c.3116_3117insG (p.Pro1040SerfsTer?) n.7465_7466insG n.1021_1022insG n.1220_1221insG c.3146_3147insG (p.Pro1050SerfsTer?) c.3059_3060insG (p.Pro1021SerfsTer?) c.2018_2019insG (p.Pro674SerfsTer?) | gnomAD v4 |
17 | g.46031546G>A | CA399985717 | KANSL1 | c.3248C>T (p.Pro1083Leu) c.3245C>T (p.Pro1082Leu) c.3056C>T (p.Pro1019Leu) c.3116C>T (p.Pro1039Leu) n.7465C>T n.1021C>T n.1220C>T c.3146C>T (p.Pro1049Leu) c.3059C>T (p.Pro1020Leu) c.2018C>T (p.Pro673Leu) | |
17 | g.46031546G>C | CA399985715 | KANSL1 | c.3248C>G (p.Pro1083Arg) c.3245C>G (p.Pro1082Arg) c.3056C>G (p.Pro1019Arg) c.3116C>G (p.Pro1039Arg) n.7465C>G n.1021C>G n.1220C>G c.3146C>G (p.Pro1049Arg) c.3059C>G (p.Pro1020Arg) c.2018C>G (p.Pro673Arg) | |
17 | g.46031546G>T | CA399985713 | KANSL1 | c.3248C>A (p.Pro1083His) c.3245C>A (p.Pro1082His) c.3056C>A (p.Pro1019His) c.3116C>A (p.Pro1039His) n.7465C>A n.1021C>A n.1220C>A c.3146C>A (p.Pro1049His) c.3059C>A (p.Pro1020His) c.2018C>A (p.Pro673His) | |
17 | g.46031547G>A | CA399985720 | KANSL1 | c.3247C>T (p.Pro1083Ser) c.3244C>T (p.Pro1082Ser) c.3055C>T (p.Pro1019Ser) c.3115C>T (p.Pro1039Ser) n.7464C>T n.1020C>T n.1219C>T c.3145C>T (p.Pro1049Ser) c.3058C>T (p.Pro1020Ser) c.2017C>T (p.Pro673Ser) | |
17 | g.46031547G>C | CA399985722 | KANSL1 | c.3247C>G (p.Pro1083Ala) c.3244C>G (p.Pro1082Ala) c.3055C>G (p.Pro1019Ala) c.3115C>G (p.Pro1039Ala) n.7464C>G n.1020C>G n.1219C>G c.3145C>G (p.Pro1049Ala) c.3058C>G (p.Pro1020Ala) c.2017C>G (p.Pro673Ala) | |
17 | g.46031547G>T | CA399985724 | KANSL1 | c.3247C>A (p.Pro1083Thr) c.3244C>A (p.Pro1082Thr) c.3055C>A (p.Pro1019Thr) c.3115C>A (p.Pro1039Thr) n.7464C>A n.1020C>A n.1219C>A c.3145C>A (p.Pro1049Thr) c.3058C>A (p.Pro1020Thr) c.2017C>A (p.Pro673Thr) | |
17 | g.46031548C>A | CA500371631 | KANSL1 | c.3246G>T (p.Ser1082=) c.3243G>T (p.Ser1081=) c.3054G>T (p.Ser1018=) c.3114G>T (p.Ser1038=) n.7463G>T n.1019G>T n.1218G>T c.3144G>T (p.Ser1048=) c.3057G>T (p.Ser1019=) c.2016G>T (p.Ser672=) | COSMIC |
17 | g.46031548C= | CA2262110734 | KANSL1 | c.3246G= (p.Ser1082=) c.3243G= (p.Ser1081=) c.3054G= (p.Ser1018=) c.3114G= (p.Ser1038=) n.7463G= n.1019G= n.1218G= c.3144G= (p.Ser1048=) c.3057G= (p.Ser1019=) c.2016G= (p.Ser672=) | |
17 | g.46031548C>G | CA500371632 | KANSL1 | c.3246G>C (p.Ser1082=) c.3243G>C (p.Ser1081=) c.3054G>C (p.Ser1018=) c.3114G>C (p.Ser1038=) n.7463G>C n.1019G>C n.1218G>C c.3144G>C (p.Ser1048=) c.3057G>C (p.Ser1019=) c.2016G>C (p.Ser672=) | |
17 | g.46031548C>T | CA8618336 | KANSL1 | c.3246G>A (p.Ser1082=) c.3243G>A (p.Ser1081=) c.3054G>A (p.Ser1018=) c.3114G>A (p.Ser1038=) n.7463G>A n.1019G>A n.1218G>A c.3144G>A (p.Ser1048=) c.3057G>A (p.Ser1019=) c.2016G>A (p.Ser672=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
17 | g.46031549G>A | CA8618337 | KANSL1 | c.3245C>T (p.Ser1082Leu) c.3242C>T (p.Ser1081Leu) c.3053C>T (p.Ser1018Leu) c.3113C>T (p.Ser1038Leu) n.7462C>T n.1018C>T n.1217C>T c.3143C>T (p.Ser1048Leu) c.3056C>T (p.Ser1019Leu) c.2015C>T (p.Ser672Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031549G>C | CA399985730 | KANSL1 | c.3245C>G (p.Ser1082Trp) c.3242C>G (p.Ser1081Trp) c.3053C>G (p.Ser1018Trp) c.3113C>G (p.Ser1038Trp) n.7462C>G n.1018C>G n.1217C>G c.3143C>G (p.Ser1048Trp) c.3056C>G (p.Ser1019Trp) c.2015C>G (p.Ser672Trp) | |
17 | g.46031549G= | CA2262110735 | KANSL1 | c.3245C= (p.Ser1082=) c.3242C= (p.Ser1081=) c.3053C= (p.Ser1018=) c.3113C= (p.Ser1038=) n.7462C= n.1018C= n.1217C= c.3143C= (p.Ser1048=) c.3056C= (p.Ser1019=) c.2015C= (p.Ser672=) | |
17 | g.46031549G>T | CA399985732 | KANSL1 | c.3245C>A (p.Ser1082Ter) c.3242C>A (p.Ser1081Ter) c.3053C>A (p.Ser1018Ter) c.3113C>A (p.Ser1038Ter) n.7462C>A n.1018C>A n.1217C>A c.3143C>A (p.Ser1048Ter) c.3056C>A (p.Ser1019Ter) c.2015C>A (p.Ser672Ter) | |
17 | g.46031550A>C | CA399985736 | KANSL1 | c.3244T>G (p.Ser1082Ala) c.3241T>G (p.Ser1081Ala) c.3052T>G (p.Ser1018Ala) c.3112T>G (p.Ser1038Ala) n.7461T>G n.1017T>G n.1216T>G c.3142T>G (p.Ser1048Ala) c.3055T>G (p.Ser1019Ala) c.2014T>G (p.Ser672Ala) | |
17 | g.46031550A>G | CA399985738 | KANSL1 | c.3244T>C (p.Ser1082Pro) c.3241T>C (p.Ser1081Pro) c.3052T>C (p.Ser1018Pro) c.3112T>C (p.Ser1038Pro) n.7461T>C n.1017T>C n.1216T>C c.3142T>C (p.Ser1048Pro) c.3055T>C (p.Ser1019Pro) c.2014T>C (p.Ser672Pro) | |
17 | g.46031550A>T | CA399985740 | KANSL1 | c.3244T>A (p.Ser1082Thr) c.3241T>A (p.Ser1081Thr) c.3052T>A (p.Ser1018Thr) c.3112T>A (p.Ser1038Thr) n.7461T>A n.1017T>A n.1216T>A c.3142T>A (p.Ser1048Thr) c.3055T>A (p.Ser1019Thr) c.2014T>A (p.Ser672Thr) | |
17 | g.46031551G>A | CA500371633 | KANSL1 | c.3243C>T (p.Thr1081=) c.3240C>T (p.Thr1080=) c.3051C>T (p.Thr1017=) c.3111C>T (p.Thr1037=) n.7460C>T n.1016C>T n.1215C>T c.3141C>T (p.Thr1047=) c.3054C>T (p.Thr1018=) c.2013C>T (p.Thr671=) | dbSNP gnomAD v4 |
17 | g.46031551G>C | CA500371634 | KANSL1 | c.3243C>G (p.Thr1081=) c.3240C>G (p.Thr1080=) c.3051C>G (p.Thr1017=) c.3111C>G (p.Thr1037=) n.7460C>G n.1016C>G n.1215C>G c.3141C>G (p.Thr1047=) c.3054C>G (p.Thr1018=) c.2013C>G (p.Thr671=) | |
17 | g.46031551G= | CA2262110736 | KANSL1 | c.3243C= (p.Thr1081=) c.3240C= (p.Thr1080=) c.3051C= (p.Thr1017=) c.3111C= (p.Thr1037=) n.7460C= n.1016C= n.1215C= c.3141C= (p.Thr1047=) c.3054C= (p.Thr1018=) c.2013C= (p.Thr671=) | |
17 | g.46031551G>T | CA500371635 | KANSL1 | c.3243C>A (p.Thr1081=) c.3240C>A (p.Thr1080=) c.3051C>A (p.Thr1017=) c.3111C>A (p.Thr1037=) n.7460C>A n.1016C>A n.1215C>A c.3141C>A (p.Thr1047=) c.3054C>A (p.Thr1018=) c.2013C>A (p.Thr671=) | |
17 | g.46031552G>A | CA399985743 | KANSL1 | c.3242C>T (p.Thr1081Ile) c.3239C>T (p.Thr1080Ile) c.3050C>T (p.Thr1017Ile) c.3110C>T (p.Thr1037Ile) n.7459C>T n.1015C>T n.1214C>T c.3140C>T (p.Thr1047Ile) c.3053C>T (p.Thr1018Ile) c.2012C>T (p.Thr671Ile) | gnomAD v4 |
17 | g.46031552G>C | CA399985745 | KANSL1 | c.3242C>G (p.Thr1081Ser) c.3239C>G (p.Thr1080Ser) c.3050C>G (p.Thr1017Ser) c.3110C>G (p.Thr1037Ser) n.7459C>G n.1015C>G n.1214C>G c.3140C>G (p.Thr1047Ser) c.3053C>G (p.Thr1018Ser) c.2012C>G (p.Thr671Ser) | ClinVar dbSNP gnomAD v4 |
17 | g.46031552G>T | CA399985747 | KANSL1 | c.3242C>A (p.Thr1081Asn) c.3239C>A (p.Thr1080Asn) c.3050C>A (p.Thr1017Asn) c.3110C>A (p.Thr1037Asn) n.7459C>A n.1015C>A n.1214C>A c.3140C>A (p.Thr1047Asn) c.3053C>A (p.Thr1018Asn) c.2012C>A (p.Thr671Asn) | |
17 | g.46031553T>A | CA399985752 | KANSL1 | c.3241A>T (p.Thr1081Ser) c.3238A>T (p.Thr1080Ser) c.3049A>T (p.Thr1017Ser) c.3109A>T (p.Thr1037Ser) n.7458A>T n.1014A>T n.1213A>T c.3139A>T (p.Thr1047Ser) c.3052A>T (p.Thr1018Ser) c.2011A>T (p.Thr671Ser) | |
17 | g.46031553T>C | CA399985754 | KANSL1 | c.3241A>G (p.Thr1081Ala) c.3238A>G (p.Thr1080Ala) c.3049A>G (p.Thr1017Ala) c.3109A>G (p.Thr1037Ala) n.7458A>G n.1014A>G n.1213A>G c.3139A>G (p.Thr1047Ala) c.3052A>G (p.Thr1018Ala) c.2011A>G (p.Thr671Ala) | gnomAD v4 |
17 | g.46031553T>G | CA399985751 | KANSL1 | c.3241A>C (p.Thr1081Pro) c.3238A>C (p.Thr1080Pro) c.3049A>C (p.Thr1017Pro) c.3109A>C (p.Thr1037Pro) n.7458A>C n.1014A>C n.1213A>C c.3139A>C (p.Thr1047Pro) c.3052A>C (p.Thr1018Pro) c.2011A>C (p.Thr671Pro) | |
17 | g.46031554G>A | CA500371638 | KANSL1 | c.3240C>T (p.Pro1080=) c.3237C>T (p.Pro1079=) c.3048C>T (p.Pro1016=) c.3108C>T (p.Pro1036=) n.7457C>T n.1013C>T n.1212C>T c.3138C>T (p.Pro1046=) c.3051C>T (p.Pro1017=) c.2010C>T (p.Pro670=) | |
17 | g.46031554G>C | CA500371636 | KANSL1 | c.3240C>G (p.Pro1080=) c.3237C>G (p.Pro1079=) c.3048C>G (p.Pro1016=) c.3108C>G (p.Pro1036=) n.7457C>G n.1013C>G n.1212C>G c.3138C>G (p.Pro1046=) c.3051C>G (p.Pro1017=) c.2010C>G (p.Pro670=) | |
17 | g.46031554G>T | CA500371637 | KANSL1 | c.3240C>A (p.Pro1080=) c.3237C>A (p.Pro1079=) c.3048C>A (p.Pro1016=) c.3108C>A (p.Pro1036=) n.7457C>A n.1013C>A n.1212C>A c.3138C>A (p.Pro1046=) c.3051C>A (p.Pro1017=) c.2010C>A (p.Pro670=) | |
17 | g.46031555G>A | CA8618338 | KANSL1 | c.3239C>T (p.Pro1080Leu) c.3236C>T (p.Pro1079Leu) c.3047C>T (p.Pro1016Leu) c.3107C>T (p.Pro1036Leu) n.7456C>T n.1012C>T n.1211C>T c.3137C>T (p.Pro1046Leu) c.3050C>T (p.Pro1017Leu) c.2009C>T (p.Pro670Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031555G>C | CA399985759 | KANSL1 | c.3239C>G (p.Pro1080Arg) c.3236C>G (p.Pro1079Arg) c.3047C>G (p.Pro1016Arg) c.3107C>G (p.Pro1036Arg) n.7456C>G n.1012C>G n.1211C>G c.3137C>G (p.Pro1046Arg) c.3050C>G (p.Pro1017Arg) c.2009C>G (p.Pro670Arg) | |
17 | g.46031555G= | CA2262110737 | KANSL1 | c.3239C= (p.Pro1080=) c.3236C= (p.Pro1079=) c.3047C= (p.Pro1016=) c.3107C= (p.Pro1036=) n.7456C= n.1012C= n.1211C= c.3137C= (p.Pro1046=) c.3050C= (p.Pro1017=) c.2009C= (p.Pro670=) | |
17 | g.46031555G>T | CA399985761 | KANSL1 | c.3239C>A (p.Pro1080His) c.3236C>A (p.Pro1079His) c.3047C>A (p.Pro1016His) c.3107C>A (p.Pro1036His) n.7456C>A n.1012C>A n.1211C>A c.3137C>A (p.Pro1046His) c.3050C>A (p.Pro1017His) c.2009C>A (p.Pro670His) | |
17 | g.46031556G>A | CA8618339 | KANSL1 | c.3238C>T (p.Pro1080Ser) c.3235C>T (p.Pro1079Ser) c.3046C>T (p.Pro1016Ser) c.3106C>T (p.Pro1036Ser) n.7455C>T n.1011C>T n.1210C>T c.3136C>T (p.Pro1046Ser) c.3049C>T (p.Pro1017Ser) c.2008C>T (p.Pro670Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031556G>C | CA399985765 | KANSL1 | c.3238C>G (p.Pro1080Ala) c.3235C>G (p.Pro1079Ala) c.3046C>G (p.Pro1016Ala) c.3106C>G (p.Pro1036Ala) n.7455C>G n.1011C>G n.1210C>G c.3136C>G (p.Pro1046Ala) c.3049C>G (p.Pro1017Ala) c.2008C>G (p.Pro670Ala) | |
17 | g.46031556G= | CA2262110738 | KANSL1 | c.3238C= (p.Pro1080=) c.3235C= (p.Pro1079=) c.3046C= (p.Pro1016=) c.3106C= (p.Pro1036=) n.7455C= n.1011C= n.1210C= c.3136C= (p.Pro1046=) c.3049C= (p.Pro1017=) c.2008C= (p.Pro670=) | |
17 | g.46031556G>T | CA399985767 | KANSL1 | c.3238C>A (p.Pro1080Thr) c.3235C>A (p.Pro1079Thr) c.3046C>A (p.Pro1016Thr) c.3106C>A (p.Pro1036Thr) n.7455C>A n.1011C>A n.1210C>A c.3136C>A (p.Pro1046Thr) c.3049C>A (p.Pro1017Thr) c.2008C>A (p.Pro670Thr) | |
17 | g.46031558_46031559dup | CA2809640614 | KANSL1 | c.3237_3238dup (p.Pro1080ArgfsTer?) c.3234_3235dup (p.Pro1079ArgfsTer?) c.3045_3046dup (p.Pro1016ArgfsTer?) c.3105_3106dup (p.Pro1036ArgfsTer?) n.7454_7455dup n.1010_1011dup n.1209_1210dup c.3135_3136dup (p.Pro1046ArgfsTer?) c.3048_3049dup (p.Pro1017ArgfsTer?) c.2007_2008dup (p.Pro670ArgfsTer?) | |
17 | g.46031557C>A | CA500371639 | KANSL1 | c.3237G>T (p.Ala1079=) c.3234G>T (p.Ala1078=) c.3045G>T (p.Ala1015=) c.3105G>T (p.Ala1035=) n.7454G>T n.1010G>T n.1209G>T c.3135G>T (p.Ala1045=) c.3048G>T (p.Ala1016=) c.2007G>T (p.Ala669=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031557C= | CA2262110739 | KANSL1 | c.3237G= (p.Ala1079=) c.3234G= (p.Ala1078=) c.3045G= (p.Ala1015=) c.3105G= (p.Ala1035=) n.7454G= n.1010G= n.1209G= c.3135G= (p.Ala1045=) c.3048G= (p.Ala1016=) c.2007G= (p.Ala669=) | |
17 | g.46031557C>G | CA500371640 | KANSL1 | c.3237G>C (p.Ala1079=) c.3234G>C (p.Ala1078=) c.3045G>C (p.Ala1015=) c.3105G>C (p.Ala1035=) n.7454G>C n.1010G>C n.1209G>C c.3135G>C (p.Ala1045=) c.3048G>C (p.Ala1016=) c.2007G>C (p.Ala669=) | |
17 | g.46031557C>T | CA8618340 | KANSL1 | c.3237G>A (p.Ala1079=) c.3234G>A (p.Ala1078=) c.3045G>A (p.Ala1015=) c.3105G>A (p.Ala1035=) n.7454G>A n.1010G>A n.1209G>A c.3135G>A (p.Ala1045=) c.3048G>A (p.Ala1016=) c.2007G>A (p.Ala669=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.46031558G>A | CA8618341 | KANSL1 | c.3236C>T (p.Ala1079Val) c.3233C>T (p.Ala1078Val) c.3044C>T (p.Ala1015Val) c.3104C>T (p.Ala1035Val) n.7453C>T n.1009C>T n.1208C>T c.3134C>T (p.Ala1045Val) c.3047C>T (p.Ala1016Val) c.2006C>T (p.Ala669Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031558G>C | CA399985771 | KANSL1 | c.3236C>G (p.Ala1079Gly) c.3233C>G (p.Ala1078Gly) c.3044C>G (p.Ala1015Gly) c.3104C>G (p.Ala1035Gly) n.7453C>G n.1009C>G n.1208C>G c.3134C>G (p.Ala1045Gly) c.3047C>G (p.Ala1016Gly) c.2006C>G (p.Ala669Gly) | |
17 | g.46031558G= | CA2262110740 | KANSL1 | c.3236C= (p.Ala1079=) c.3233C= (p.Ala1078=) c.3044C= (p.Ala1015=) c.3104C= (p.Ala1035=) n.7453C= n.1009C= n.1208C= c.3134C= (p.Ala1045=) c.3047C= (p.Ala1016=) c.2006C= (p.Ala669=) | |
17 | g.46031558G>T | CA399985774 | KANSL1 | c.3236C>A (p.Ala1079Glu) c.3233C>A (p.Ala1078Glu) c.3044C>A (p.Ala1015Glu) c.3104C>A (p.Ala1035Glu) n.7453C>A n.1009C>A n.1208C>A c.3134C>A (p.Ala1045Glu) c.3047C>A (p.Ala1016Glu) c.2006C>A (p.Ala669Glu) | |
17 | g.46031559C>A | CA399985777 | KANSL1 | c.3235G>T (p.Ala1079Ser) c.3232G>T (p.Ala1078Ser) c.3043G>T (p.Ala1015Ser) c.3103G>T (p.Ala1035Ser) n.7452G>T n.1008G>T n.1207G>T c.3133G>T (p.Ala1045Ser) c.3046G>T (p.Ala1016Ser) c.2005G>T (p.Ala669Ser) | |
17 | g.46031559C= | CA2262110741 | KANSL1 | c.3235G= (p.Ala1079=) c.3232G= (p.Ala1078=) c.3043G= (p.Ala1015=) c.3103G= (p.Ala1035=) n.7452G= n.1008G= n.1207G= c.3133G= (p.Ala1045=) c.3046G= (p.Ala1016=) c.2005G= (p.Ala669=) | |
17 | g.46031559C>G | CA399985779 | KANSL1 | c.3235G>C (p.Ala1079Pro) c.3232G>C (p.Ala1078Pro) c.3043G>C (p.Ala1015Pro) c.3103G>C (p.Ala1035Pro) n.7452G>C n.1008G>C n.1207G>C c.3133G>C (p.Ala1045Pro) c.3046G>C (p.Ala1016Pro) c.2005G>C (p.Ala669Pro) | |
17 | g.46031559C>T | CA291125308 | KANSL1 | c.3235G>A (p.Ala1079Thr) c.3232G>A (p.Ala1078Thr) c.3043G>A (p.Ala1015Thr) c.3103G>A (p.Ala1035Thr) n.7452G>A n.1008G>A n.1207G>A c.3133G>A (p.Ala1045Thr) c.3046G>A (p.Ala1016Thr) c.2005G>A (p.Ala669Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031560T>A | CA500371642 | KANSL1 | c.3234A>T (p.Ala1078=) c.3231A>T (p.Ala1077=) c.3042A>T (p.Ala1014=) c.3102A>T (p.Ala1034=) n.7451A>T n.1007A>T n.1206A>T c.3132A>T (p.Ala1044=) c.3045A>T (p.Ala1015=) c.2004A>T (p.Ala668=) | gnomAD v4 |
17 | g.46031560T>C | CA500371643 | KANSL1 | c.3234A>G (p.Ala1078=) c.3231A>G (p.Ala1077=) c.3042A>G (p.Ala1014=) c.3102A>G (p.Ala1034=) n.7451A>G n.1007A>G n.1206A>G c.3132A>G (p.Ala1044=) c.3045A>G (p.Ala1015=) c.2004A>G (p.Ala668=) | gnomAD v4 |
17 | g.46031560T>G | CA500371641 | KANSL1 | c.3234A>C (p.Ala1078=) c.3231A>C (p.Ala1077=) c.3042A>C (p.Ala1014=) c.3102A>C (p.Ala1034=) n.7451A>C n.1007A>C n.1206A>C c.3132A>C (p.Ala1044=) c.3045A>C (p.Ala1015=) c.2004A>C (p.Ala668=) | |
17 | g.46031561G>A | CA8618342 | KANSL1 | c.3233C>T (p.Ala1078Val) c.3230C>T (p.Ala1077Val) c.3041C>T (p.Ala1014Val) c.3101C>T (p.Ala1034Val) n.7450C>T n.1006C>T n.1205C>T c.3131C>T (p.Ala1044Val) c.3044C>T (p.Ala1015Val) c.2003C>T (p.Ala668Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031561G>C | CA399985787 | KANSL1 | c.3233C>G (p.Ala1078Gly) c.3230C>G (p.Ala1077Gly) c.3041C>G (p.Ala1014Gly) c.3101C>G (p.Ala1034Gly) n.7450C>G n.1006C>G n.1205C>G c.3131C>G (p.Ala1044Gly) c.3044C>G (p.Ala1015Gly) c.2003C>G (p.Ala668Gly) | |
17 | g.46031561G= | CA2262110742 | KANSL1 | c.3233C= (p.Ala1078=) c.3230C= (p.Ala1077=) c.3041C= (p.Ala1014=) c.3101C= (p.Ala1034=) n.7450C= n.1006C= n.1205C= c.3131C= (p.Ala1044=) c.3044C= (p.Ala1015=) c.2003C= (p.Ala668=) | |
17 | g.46031561G>T | CA399985784 | KANSL1 | c.3233C>A (p.Ala1078Glu) c.3230C>A (p.Ala1077Glu) c.3041C>A (p.Ala1014Glu) c.3101C>A (p.Ala1034Glu) n.7450C>A n.1006C>A n.1205C>A c.3131C>A (p.Ala1044Glu) c.3044C>A (p.Ala1015Glu) c.2003C>A (p.Ala668Glu) | |
17 | g.46031562C>A | CA399985790 | KANSL1 | c.3232G>T (p.Ala1078Ser) c.3229G>T (p.Ala1077Ser) c.3040G>T (p.Ala1014Ser) c.3100G>T (p.Ala1034Ser) n.7449G>T n.1005G>T n.1204G>T c.3130G>T (p.Ala1044Ser) c.3043G>T (p.Ala1015Ser) c.2002G>T (p.Ala668Ser) | |
17 | g.46031562C>G | CA399985792 | KANSL1 | c.3232G>C (p.Ala1078Pro) c.3229G>C (p.Ala1077Pro) c.3040G>C (p.Ala1014Pro) c.3100G>C (p.Ala1034Pro) n.7449G>C n.1005G>C n.1204G>C c.3130G>C (p.Ala1044Pro) c.3043G>C (p.Ala1015Pro) c.2002G>C (p.Ala668Pro) | |
17 | g.46031562C>T | CA399985794 | KANSL1 | c.3232G>A (p.Ala1078Thr) c.3229G>A (p.Ala1077Thr) c.3040G>A (p.Ala1014Thr) c.3100G>A (p.Ala1034Thr) n.7449G>A n.1005G>A n.1204G>A c.3130G>A (p.Ala1044Thr) c.3043G>A (p.Ala1015Thr) c.2002G>A (p.Ala668Thr) | |
17 | g.46031563C>A | CA399985796 | KANSL1 | c.3231G>T (p.Glu1077Asp) c.3228G>T (p.Glu1076Asp) c.3039G>T (p.Glu1013Asp) c.3099G>T (p.Glu1033Asp) n.7448G>T n.1004G>T n.1203G>T c.3129G>T (p.Glu1043Asp) c.3042G>T (p.Glu1014Asp) c.2001G>T (p.Glu667Asp) | |
17 | g.46031563C>G | CA399985798 | KANSL1 | c.3231G>C (p.Glu1077Asp) c.3228G>C (p.Glu1076Asp) c.3039G>C (p.Glu1013Asp) c.3099G>C (p.Glu1033Asp) n.7448G>C n.1004G>C n.1203G>C c.3129G>C (p.Glu1043Asp) c.3042G>C (p.Glu1014Asp) c.2001G>C (p.Glu667Asp) | |
17 | g.46031563C>T | CA500371644 | KANSL1 | c.3231G>A (p.Glu1077=) c.3228G>A (p.Glu1076=) c.3039G>A (p.Glu1013=) c.3099G>A (p.Glu1033=) n.7448G>A n.1004G>A n.1203G>A c.3129G>A (p.Glu1043=) c.3042G>A (p.Glu1014=) c.2001G>A (p.Glu667=) | gnomAD v4 |
17 | g.46031565_46031566del | CA2638370827 | KANSL1 | c.3230_3231del (p.Glu1077GlyfsTer?) c.3227_3228del (p.Glu1076GlyfsTer?) c.3038_3039del (p.Glu1013GlyfsTer?) c.3098_3099del (p.Glu1033GlyfsTer?) n.7447_7448del n.1003_1004del n.1202_1203del c.3128_3129del (p.Glu1043GlyfsTer?) c.3041_3042del (p.Glu1014GlyfsTer?) c.2000_2001del (p.Glu667GlyfsTer?) | gnomAD v4 |
17 | g.46031564T>A | CA8618343 | KANSL1 | c.3230A>T (p.Glu1077Val) c.3227A>T (p.Glu1076Val) c.3038A>T (p.Glu1013Val) c.3098A>T (p.Glu1033Val) n.7447A>T n.1003A>T n.1202A>T c.3128A>T (p.Glu1043Val) c.3041A>T (p.Glu1014Val) c.2000A>T (p.Glu667Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031564T>C | CA399985802 | KANSL1 | c.3230A>G (p.Glu1077Gly) c.3227A>G (p.Glu1076Gly) c.3038A>G (p.Glu1013Gly) c.3098A>G (p.Glu1033Gly) n.7447A>G n.1003A>G n.1202A>G c.3128A>G (p.Glu1043Gly) c.3041A>G (p.Glu1014Gly) c.2000A>G (p.Glu667Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031564T>G | CA399985804 | KANSL1 | c.3230A>C (p.Glu1077Ala) c.3227A>C (p.Glu1076Ala) c.3038A>C (p.Glu1013Ala) c.3098A>C (p.Glu1033Ala) n.7447A>C n.1003A>C n.1202A>C c.3128A>C (p.Glu1043Ala) c.3041A>C (p.Glu1014Ala) c.2000A>C (p.Glu667Ala) | |
17 | g.46031564T= | CA2262110743 | KANSL1 | c.3230A= (p.Glu1077=) c.3227A= (p.Glu1076=) c.3038A= (p.Glu1013=) c.3098A= (p.Glu1033=) n.7447A= n.1003A= n.1202A= c.3128A= (p.Glu1043=) c.3041A= (p.Glu1014=) c.2000A= (p.Glu667=) | |
17 | g.46031565C>A | CA399985806 | KANSL1 | c.3229G>T (p.Glu1077Ter) c.3226G>T (p.Glu1076Ter) c.3037G>T (p.Glu1013Ter) c.3097G>T (p.Glu1033Ter) n.7446G>T n.1002G>T n.1201G>T c.3127G>T (p.Glu1043Ter) c.3040G>T (p.Glu1014Ter) c.1999G>T (p.Glu667Ter) | |
17 | g.46031565C>G | CA399985808 | KANSL1 | c.3229G>C (p.Glu1077Gln) c.3226G>C (p.Glu1076Gln) c.3037G>C (p.Glu1013Gln) c.3097G>C (p.Glu1033Gln) n.7446G>C n.1002G>C n.1201G>C c.3127G>C (p.Glu1043Gln) c.3040G>C (p.Glu1014Gln) c.1999G>C (p.Glu667Gln) | |
17 | g.46031565C>T | CA399985810 | KANSL1 | c.3229G>A (p.Glu1077Lys) c.3226G>A (p.Glu1076Lys) c.3037G>A (p.Glu1013Lys) c.3097G>A (p.Glu1033Lys) n.7446G>A n.1002G>A n.1201G>A c.3127G>A (p.Glu1043Lys) c.3040G>A (p.Glu1014Lys) c.1999G>A (p.Glu667Lys) | |
17 | g.46031566T>A | CA500371646 | KANSL1 | c.3228A>T (p.Thr1076=) c.3225A>T (p.Thr1075=) c.3036A>T (p.Thr1012=) c.3096A>T (p.Thr1032=) n.7445A>T n.1001A>T n.1200A>T c.3126A>T (p.Thr1042=) c.3039A>T (p.Thr1013=) c.1998A>T (p.Thr666=) | |
17 | g.46031566T>C | CA500371645 | KANSL1 | c.3228A>G (p.Thr1076=) c.3225A>G (p.Thr1075=) c.3036A>G (p.Thr1012=) c.3096A>G (p.Thr1032=) n.7445A>G n.1001A>G n.1200A>G c.3126A>G (p.Thr1042=) c.3039A>G (p.Thr1013=) c.1998A>G (p.Thr666=) | gnomAD v4 |
17 | g.46031566T>G | CA500371647 | KANSL1 | c.3228A>C (p.Thr1076=) c.3225A>C (p.Thr1075=) c.3036A>C (p.Thr1012=) c.3096A>C (p.Thr1032=) n.7445A>C n.1001A>C n.1200A>C c.3126A>C (p.Thr1042=) c.3039A>C (p.Thr1013=) c.1998A>C (p.Thr666=) | gnomAD v4 |
17 | g.46031567G>A | CA399985816 | KANSL1 | c.3227C>T (p.Thr1076Ile) c.3224C>T (p.Thr1075Ile) c.3035C>T (p.Thr1012Ile) c.3095C>T (p.Thr1032Ile) n.7444C>T n.1000C>T n.1199C>T c.3125C>T (p.Thr1042Ile) c.3038C>T (p.Thr1013Ile) c.1997C>T (p.Thr666Ile) | |
17 | g.46031567G>C | CA399985817 | KANSL1 | c.3227C>G (p.Thr1076Arg) c.3224C>G (p.Thr1075Arg) c.3035C>G (p.Thr1012Arg) c.3095C>G (p.Thr1032Arg) n.7444C>G n.1000C>G n.1199C>G c.3125C>G (p.Thr1042Arg) c.3038C>G (p.Thr1013Arg) c.1997C>G (p.Thr666Arg) | dbSNP |
17 | g.46031567G= | CA2262110744 | KANSL1 | c.3227C= (p.Thr1076=) c.3224C= (p.Thr1075=) c.3035C= (p.Thr1012=) c.3095C= (p.Thr1032=) n.7444C= n.1000C= n.1199C= c.3125C= (p.Thr1042=) c.3038C= (p.Thr1013=) c.1997C= (p.Thr666=) | |
17 | g.46031567G>T | CA399985813 | KANSL1 | c.3227C>A (p.Thr1076Lys) c.3224C>A (p.Thr1075Lys) c.3035C>A (p.Thr1012Lys) c.3095C>A (p.Thr1032Lys) n.7444C>A n.1000C>A n.1199C>A c.3125C>A (p.Thr1042Lys) c.3038C>A (p.Thr1013Lys) c.1997C>A (p.Thr666Lys) | |
17 | g.46031568T>A | CA399985819 | KANSL1 | c.3226A>T (p.Thr1076Ser) c.3223A>T (p.Thr1075Ser) c.3034A>T (p.Thr1012Ser) c.3094A>T (p.Thr1032Ser) n.7443A>T n.999A>T n.1198A>T c.3124A>T (p.Thr1042Ser) c.3037A>T (p.Thr1013Ser) c.1996A>T (p.Thr666Ser) | |
17 | g.46031568T>C | CA399985822 | KANSL1 | c.3226A>G (p.Thr1076Ala) c.3223A>G (p.Thr1075Ala) c.3034A>G (p.Thr1012Ala) c.3094A>G (p.Thr1032Ala) n.7443A>G n.999A>G n.1198A>G c.3124A>G (p.Thr1042Ala) c.3037A>G (p.Thr1013Ala) c.1996A>G (p.Thr666Ala) | |
17 | g.46031568T>G | CA399985824 | KANSL1 | c.3226A>C (p.Thr1076Pro) c.3223A>C (p.Thr1075Pro) c.3034A>C (p.Thr1012Pro) c.3094A>C (p.Thr1032Pro) n.7443A>C n.999A>C n.1198A>C c.3124A>C (p.Thr1042Pro) c.3037A>C (p.Thr1013Pro) c.1996A>C (p.Thr666Pro) | |
17 | g.46031569C>A | CA8618344 | KANSL1 | c.3225G>T (p.Glu1075Asp) c.3222G>T (p.Glu1074Asp) c.3033G>T (p.Glu1011Asp) c.3093G>T (p.Glu1031Asp) n.7442G>T n.998G>T n.1197G>T c.3123G>T (p.Glu1041Asp) c.3036G>T (p.Glu1012Asp) c.1995G>T (p.Glu665Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031569C= | CA2262110745 | KANSL1 | c.3225G= (p.Glu1075=) c.3222G= (p.Glu1074=) c.3033G= (p.Glu1011=) c.3093G= (p.Glu1031=) n.7442G= n.998G= n.1197G= c.3123G= (p.Glu1041=) c.3036G= (p.Glu1012=) c.1995G= (p.Glu665=) | |
17 | g.46031569C>G | CA399985828 | KANSL1 | c.3225G>C (p.Glu1075Asp) c.3222G>C (p.Glu1074Asp) c.3033G>C (p.Glu1011Asp) c.3093G>C (p.Glu1031Asp) n.7442G>C n.998G>C n.1197G>C c.3123G>C (p.Glu1041Asp) c.3036G>C (p.Glu1012Asp) c.1995G>C (p.Glu665Asp) | |
17 | g.46031569C>T | CA500371648 | KANSL1 | c.3225G>A (p.Glu1075=) c.3222G>A (p.Glu1074=) c.3033G>A (p.Glu1011=) c.3093G>A (p.Glu1031=) n.7442G>A n.998G>A n.1197G>A c.3123G>A (p.Glu1041=) c.3036G>A (p.Glu1012=) c.1995G>A (p.Glu665=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031570T>A | CA399985831 | KANSL1 | c.3224A>T (p.Glu1075Val) c.3221A>T (p.Glu1074Val) c.3032A>T (p.Glu1011Val) c.3092A>T (p.Glu1031Val) n.7441A>T n.997A>T n.1196A>T c.3122A>T (p.Glu1041Val) c.3035A>T (p.Glu1012Val) c.1994A>T (p.Glu665Val) | |
17 | g.46031570T>C | CA399985834 | KANSL1 | c.3224A>G (p.Glu1075Gly) c.3221A>G (p.Glu1074Gly) c.3032A>G (p.Glu1011Gly) c.3092A>G (p.Glu1031Gly) n.7441A>G n.997A>G n.1196A>G c.3122A>G (p.Glu1041Gly) c.3035A>G (p.Glu1012Gly) c.1994A>G (p.Glu665Gly) | |
17 | g.46031570T>G | CA8618345 | KANSL1 | c.3224A>C (p.Glu1075Ala) c.3221A>C (p.Glu1074Ala) c.3032A>C (p.Glu1011Ala) c.3092A>C (p.Glu1031Ala) n.7441A>C n.997A>C n.1196A>C c.3122A>C (p.Glu1041Ala) c.3035A>C (p.Glu1012Ala) c.1994A>C (p.Glu665Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031570T= | CA2262110746 | KANSL1 | c.3224A= (p.Glu1075=) c.3221A= (p.Glu1074=) c.3032A= (p.Glu1011=) c.3092A= (p.Glu1031=) n.7441A= n.997A= n.1196A= c.3122A= (p.Glu1041=) c.3035A= (p.Glu1012=) c.1994A= (p.Glu665=) | |
17 | g.46031571C>A | CA399985838 | KANSL1 | c.3223G>T (p.Glu1075Ter) c.3220G>T (p.Glu1074Ter) c.3031G>T (p.Glu1011Ter) c.3091G>T (p.Glu1031Ter) n.7440G>T n.996G>T n.1195G>T c.3121G>T (p.Glu1041Ter) c.3034G>T (p.Glu1012Ter) c.1993G>T (p.Glu665Ter) | |
17 | g.46031571C>G | CA399985840 | KANSL1 | c.3223G>C (p.Glu1075Gln) c.3220G>C (p.Glu1074Gln) c.3031G>C (p.Glu1011Gln) c.3091G>C (p.Glu1031Gln) n.7440G>C n.996G>C n.1195G>C c.3121G>C (p.Glu1041Gln) c.3034G>C (p.Glu1012Gln) c.1993G>C (p.Glu665Gln) | |
17 | g.46031571C>T | CA399985841 | KANSL1 | c.3223G>A (p.Glu1075Lys) c.3220G>A (p.Glu1074Lys) c.3031G>A (p.Glu1011Lys) c.3091G>A (p.Glu1031Lys) n.7440G>A n.996G>A n.1195G>A c.3121G>A (p.Glu1041Lys) c.3034G>A (p.Glu1012Lys) c.1993G>A (p.Glu665Lys) | gnomAD v4 |
17 | g.46031572C>A | CA500371650 | KANSL1 | c.3222G>T (p.Arg1074=) c.3219G>T (p.Arg1073=) c.3030G>T (p.Arg1010=) c.3090G>T (p.Arg1030=) n.7439G>T n.995G>T n.1194G>T c.3120G>T (p.Arg1040=) c.3033G>T (p.Arg1011=) c.1992G>T (p.Arg664=) | |
17 | g.46031572C>G | CA500371649 | KANSL1 | c.3222G>C (p.Arg1074=) c.3219G>C (p.Arg1073=) c.3030G>C (p.Arg1010=) c.3090G>C (p.Arg1030=) n.7439G>C n.995G>C n.1194G>C c.3120G>C (p.Arg1040=) c.3033G>C (p.Arg1011=) c.1992G>C (p.Arg664=) | |
17 | g.46031572C>T | CA500371651 | KANSL1 | c.3222G>A (p.Arg1074=) c.3219G>A (p.Arg1073=) c.3030G>A (p.Arg1010=) c.3090G>A (p.Arg1030=) n.7439G>A n.995G>A n.1194G>A c.3120G>A (p.Arg1040=) c.3033G>A (p.Arg1011=) c.1992G>A (p.Arg664=) | |
17 | g.46031573C>A | CA399985844 | KANSL1 | c.3221G>T (p.Arg1074Leu) c.3218G>T (p.Arg1073Leu) c.3029G>T (p.Arg1010Leu) c.3089G>T (p.Arg1030Leu) n.7438G>T n.994G>T n.1193G>T c.3119G>T (p.Arg1040Leu) c.3032G>T (p.Arg1011Leu) c.1991G>T (p.Arg664Leu) | gnomAD v4 |
17 | g.46031573C= | CA2262110747 | KANSL1 | c.3221G= (p.Arg1074=) c.3218G= (p.Arg1073=) c.3029G= (p.Arg1010=) c.3089G= (p.Arg1030=) n.7438G= n.994G= n.1193G= c.3119G= (p.Arg1040=) c.3032G= (p.Arg1011=) c.1991G= (p.Arg664=) | |
17 | g.46031573C>G | CA399985846 | KANSL1 | c.3221G>C (p.Arg1074Pro) c.3218G>C (p.Arg1073Pro) c.3029G>C (p.Arg1010Pro) c.3089G>C (p.Arg1030Pro) n.7438G>C n.994G>C n.1193G>C c.3119G>C (p.Arg1040Pro) c.3032G>C (p.Arg1011Pro) c.1991G>C (p.Arg664Pro) | |
17 | g.46031573C>T | CA8618346 | KANSL1 | c.3221G>A (p.Arg1074Gln) c.3218G>A (p.Arg1073Gln) c.3029G>A (p.Arg1010Gln) c.3089G>A (p.Arg1030Gln) n.7438G>A n.994G>A n.1193G>A c.3119G>A (p.Arg1040Gln) c.3032G>A (p.Arg1011Gln) c.1991G>A (p.Arg664Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031574G>A | CA399985852 | KANSL1 | c.3220C>T (p.Arg1074Trp) c.3217C>T (p.Arg1073Trp) c.3028C>T (p.Arg1010Trp) c.3088C>T (p.Arg1030Trp) n.7437C>T n.993C>T n.1192C>T c.3118C>T (p.Arg1040Trp) c.3031C>T (p.Arg1011Trp) c.1990C>T (p.Arg664Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.46031574G>C | CA399985850 | KANSL1 | c.3220C>G (p.Arg1074Gly) c.3217C>G (p.Arg1073Gly) c.3028C>G (p.Arg1010Gly) c.3088C>G (p.Arg1030Gly) n.7437C>G n.993C>G n.1192C>G c.3118C>G (p.Arg1040Gly) c.3031C>G (p.Arg1011Gly) c.1990C>G (p.Arg664Gly) | |
17 | g.46031574G= | CA2262110748 | KANSL1 | c.3220C= (p.Arg1074=) c.3217C= (p.Arg1073=) c.3028C= (p.Arg1010=) c.3088C= (p.Arg1030=) n.7437C= n.993C= n.1192C= c.3118C= (p.Arg1040=) c.3031C= (p.Arg1011=) c.1990C= (p.Arg664=) | |
17 | g.46031574G>T | CA500371652 | KANSL1 | c.3220C>A (p.Arg1074=) c.3217C>A (p.Arg1073=) c.3028C>A (p.Arg1010=) c.3088C>A (p.Arg1030=) n.7437C>A n.993C>A n.1192C>A c.3118C>A (p.Arg1040=) c.3031C>A (p.Arg1011=) c.1990C>A (p.Arg664=) | |
17 | g.46031575G>A | CA500371654 | KANSL1 | c.3219C>T (p.Gly1073=) c.3216C>T (p.Gly1072=) c.3027C>T (p.Gly1009=) c.3087C>T (p.Gly1029=) n.7436C>T n.992C>T n.1191C>T c.3117C>T (p.Gly1039=) c.3030C>T (p.Gly1010=) c.1989C>T (p.Gly663=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031575G>C | CA500371655 | KANSL1 | c.3219C>G (p.Gly1073=) c.3216C>G (p.Gly1072=) c.3027C>G (p.Gly1009=) c.3087C>G (p.Gly1029=) n.7436C>G n.992C>G n.1191C>G c.3117C>G (p.Gly1039=) c.3030C>G (p.Gly1010=) c.1989C>G (p.Gly663=) | |
17 | g.46031575G= | CA2262110749 | KANSL1 | c.3219C= (p.Gly1073=) c.3216C= (p.Gly1072=) c.3027C= (p.Gly1009=) c.3087C= (p.Gly1029=) n.7436C= n.992C= n.1191C= c.3117C= (p.Gly1039=) c.3030C= (p.Gly1010=) c.1989C= (p.Gly663=) | |
17 | g.46031575G>T | CA500371653 | KANSL1 | c.3219C>A (p.Gly1073=) c.3216C>A (p.Gly1072=) c.3027C>A (p.Gly1009=) c.3087C>A (p.Gly1029=) n.7436C>A n.992C>A n.1191C>A c.3117C>A (p.Gly1039=) c.3030C>A (p.Gly1010=) c.1989C>A (p.Gly663=) | |
17 | g.46031576C>A | CA399985855 | KANSL1 | c.3218G>T (p.Gly1073Val) c.3215G>T (p.Gly1072Val) c.3026G>T (p.Gly1009Val) c.3086G>T (p.Gly1029Val) n.7435G>T n.991G>T n.1190G>T c.3116G>T (p.Gly1039Val) c.3029G>T (p.Gly1010Val) c.1988G>T (p.Gly663Val) | dbSNP gnomAD v4 |
17 | g.46031576C= | CA2262110750 | KANSL1 | c.3218G= (p.Gly1073=) c.3215G= (p.Gly1072=) c.3026G= (p.Gly1009=) c.3086G= (p.Gly1029=) n.7435G= n.991G= n.1190G= c.3116G= (p.Gly1039=) c.3029G= (p.Gly1010=) c.1988G= (p.Gly663=) | |
17 | g.46031576C>G | CA399985857 | KANSL1 | c.3218G>C (p.Gly1073Ala) c.3215G>C (p.Gly1072Ala) c.3026G>C (p.Gly1009Ala) c.3086G>C (p.Gly1029Ala) n.7435G>C n.991G>C n.1190G>C c.3116G>C (p.Gly1039Ala) c.3029G>C (p.Gly1010Ala) c.1988G>C (p.Gly663Ala) | |
17 | g.46031576C>T | CA8618347 | KANSL1 | c.3218G>A (p.Gly1073Asp) c.3215G>A (p.Gly1072Asp) c.3026G>A (p.Gly1009Asp) c.3086G>A (p.Gly1029Asp) n.7435G>A n.991G>A n.1190G>A c.3116G>A (p.Gly1039Asp) c.3029G>A (p.Gly1010Asp) c.1988G>A (p.Gly663Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031577C>A | CA399985862 | KANSL1 | c.3217G>T (p.Gly1073Cys) c.3214G>T (p.Gly1072Cys) c.3025G>T (p.Gly1009Cys) c.3085G>T (p.Gly1029Cys) n.7434G>T n.990G>T n.1189G>T c.3115G>T (p.Gly1039Cys) c.3028G>T (p.Gly1010Cys) c.1987G>T (p.Gly663Cys) | |
17 | g.46031577C>G | CA399985863 | KANSL1 | c.3217G>C (p.Gly1073Arg) c.3214G>C (p.Gly1072Arg) c.3025G>C (p.Gly1009Arg) c.3085G>C (p.Gly1029Arg) n.7434G>C n.990G>C n.1189G>C c.3115G>C (p.Gly1039Arg) c.3028G>C (p.Gly1010Arg) c.1987G>C (p.Gly663Arg) | gnomAD v4 |
17 | g.46031577C>T | CA399985866 | KANSL1 | c.3217G>A (p.Gly1073Ser) c.3214G>A (p.Gly1072Ser) c.3025G>A (p.Gly1009Ser) c.3085G>A (p.Gly1029Ser) n.7434G>A n.990G>A n.1189G>A c.3115G>A (p.Gly1039Ser) c.3028G>A (p.Gly1010Ser) c.1987G>A (p.Gly663Ser) | |
17 | g.46031577_46031578del | CA2638370854 | KANSL1 | c.3216_3217del (p.Gly1073ProfsTer?) c.3213_3214del (p.Gly1072ProfsTer?) c.3024_3025del (p.Gly1009ProfsTer?) c.3084_3085del (p.Gly1029ProfsTer?) n.7433_7434del n.989_990del n.1188_1189del c.3114_3115del (p.Gly1039ProfsTer?) c.3027_3028del (p.Gly1010ProfsTer?) c.1986_1987del (p.Gly663ProfsTer?) | gnomAD v4 |
17 | g.46031578A>C | CA500371656 | KANSL1 | c.3216T>G (p.Thr1072=) c.3213T>G (p.Thr1071=) c.3024T>G (p.Thr1008=) c.3084T>G (p.Thr1028=) n.7433T>G n.989T>G n.1188T>G c.3114T>G (p.Thr1038=) c.3027T>G (p.Thr1009=) c.1986T>G (p.Thr662=) | |
17 | g.46031578A>G | CA500371658 | KANSL1 | c.3216T>C (p.Thr1072=) c.3213T>C (p.Thr1071=) c.3024T>C (p.Thr1008=) c.3084T>C (p.Thr1028=) n.7433T>C n.989T>C n.1188T>C c.3114T>C (p.Thr1038=) c.3027T>C (p.Thr1009=) c.1986T>C (p.Thr662=) | |
17 | g.46031578A>T | CA500371657 | KANSL1 | c.3216T>A (p.Thr1072=) c.3213T>A (p.Thr1071=) c.3024T>A (p.Thr1008=) c.3084T>A (p.Thr1028=) n.7433T>A n.989T>A n.1188T>A c.3114T>A (p.Thr1038=) c.3027T>A (p.Thr1009=) c.1986T>A (p.Thr662=) | |
17 | g.46031579G>A | CA16608476 | KANSL1 | c.3215C>T (p.Thr1072Ile) c.3212C>T (p.Thr1071Ile) c.3023C>T (p.Thr1008Ile) c.3083C>T (p.Thr1028Ile) n.7432C>T n.988C>T n.1187C>T c.3113C>T (p.Thr1038Ile) c.3026C>T (p.Thr1009Ile) c.1985C>T (p.Thr662Ile) | ClinVar dbSNP |
17 | g.46031579G>C | CA399985868 | KANSL1 | c.3215C>G (p.Thr1072Ser) c.3212C>G (p.Thr1071Ser) c.3023C>G (p.Thr1008Ser) c.3083C>G (p.Thr1028Ser) n.7432C>G n.988C>G n.1187C>G c.3113C>G (p.Thr1038Ser) c.3026C>G (p.Thr1009Ser) c.1985C>G (p.Thr662Ser) | |
17 | g.46031579G= | CA2262110751 | KANSL1 | c.3215C= (p.Thr1072=) c.3212C= (p.Thr1071=) c.3023C= (p.Thr1008=) c.3083C= (p.Thr1028=) n.7432C= n.988C= n.1187C= c.3113C= (p.Thr1038=) c.3026C= (p.Thr1009=) c.1985C= (p.Thr662=) | |
17 | g.46031579G>T | CA399985870 | KANSL1 | c.3215C>A (p.Thr1072Asn) c.3212C>A (p.Thr1071Asn) c.3023C>A (p.Thr1008Asn) c.3083C>A (p.Thr1028Asn) n.7432C>A n.988C>A n.1187C>A c.3113C>A (p.Thr1038Asn) c.3026C>A (p.Thr1009Asn) c.1985C>A (p.Thr662Asn) | |
17 | g.46031580T>A | CA399985877 | KANSL1 | c.3214A>T (p.Thr1072Ser) c.3211A>T (p.Thr1071Ser) c.3022A>T (p.Thr1008Ser) c.3082A>T (p.Thr1028Ser) n.7431A>T n.987A>T n.1186A>T c.3112A>T (p.Thr1038Ser) c.3025A>T (p.Thr1009Ser) c.1984A>T (p.Thr662Ser) | |
17 | g.46031580T>C | CA399985879 | KANSL1 | c.3214A>G (p.Thr1072Ala) c.3211A>G (p.Thr1071Ala) c.3022A>G (p.Thr1008Ala) c.3082A>G (p.Thr1028Ala) n.7431A>G n.987A>G n.1186A>G c.3112A>G (p.Thr1038Ala) c.3025A>G (p.Thr1009Ala) c.1984A>G (p.Thr662Ala) | |
17 | g.46031580T>G | CA399985880 | KANSL1 | c.3214A>C (p.Thr1072Pro) c.3211A>C (p.Thr1071Pro) c.3022A>C (p.Thr1008Pro) c.3082A>C (p.Thr1028Pro) n.7431A>C n.987A>C n.1186A>C c.3112A>C (p.Thr1038Pro) c.3025A>C (p.Thr1009Pro) c.1984A>C (p.Thr662Pro) | |
17 | g.46031581C>A | CA399985882 | KANSL1 | c.3213G>T (p.Lys1071Asn) c.3210G>T (p.Lys1070Asn) c.3021G>T (p.Lys1007Asn) c.3081G>T (p.Lys1027Asn) n.7430G>T n.986G>T n.1185G>T c.3111G>T (p.Lys1037Asn) c.3024G>T (p.Lys1008Asn) c.1983G>T (p.Lys661Asn) | |
17 | g.46031581C= | CA2262110752 | KANSL1 | c.3213G= (p.Lys1071=) c.3210G= (p.Lys1070=) c.3021G= (p.Lys1007=) c.3081G= (p.Lys1027=) n.7430G= n.986G= n.1185G= c.3111G= (p.Lys1037=) c.3024G= (p.Lys1008=) c.1983G= (p.Lys661=) | |
17 | g.46031581C>G | CA399985885 | KANSL1 | c.3213G>C (p.Lys1071Asn) c.3210G>C (p.Lys1070Asn) c.3021G>C (p.Lys1007Asn) c.3081G>C (p.Lys1027Asn) n.7430G>C n.986G>C n.1185G>C c.3111G>C (p.Lys1037Asn) c.3024G>C (p.Lys1008Asn) c.1983G>C (p.Lys661Asn) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031581C>T | CA500371659 | KANSL1 | c.3213G>A (p.Lys1071=) c.3210G>A (p.Lys1070=) c.3021G>A (p.Lys1007=) c.3081G>A (p.Lys1027=) n.7430G>A n.986G>A n.1185G>A c.3111G>A (p.Lys1037=) c.3024G>A (p.Lys1008=) c.1983G>A (p.Lys661=) | gnomAD v4 |
17 | g.46031582T>A | CA399985891 | KANSL1 | c.3212A>T (p.Lys1071Met) c.3209A>T (p.Lys1070Met) c.3020A>T (p.Lys1007Met) c.3080A>T (p.Lys1027Met) n.7429A>T n.985A>T n.1184A>T c.3110A>T (p.Lys1037Met) c.3023A>T (p.Lys1008Met) c.1982A>T (p.Lys661Met) | |
17 | g.46031582T>C | CA399985888 | KANSL1 | c.3212A>G (p.Lys1071Arg) c.3209A>G (p.Lys1070Arg) c.3020A>G (p.Lys1007Arg) c.3080A>G (p.Lys1027Arg) n.7429A>G n.985A>G n.1184A>G c.3110A>G (p.Lys1037Arg) c.3023A>G (p.Lys1008Arg) c.1982A>G (p.Lys661Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031582T>G | CA399985890 | KANSL1 | c.3212A>C (p.Lys1071Thr) c.3209A>C (p.Lys1070Thr) c.3020A>C (p.Lys1007Thr) c.3080A>C (p.Lys1027Thr) n.7429A>C n.985A>C n.1184A>C c.3110A>C (p.Lys1037Thr) c.3023A>C (p.Lys1008Thr) c.1982A>C (p.Lys661Thr) | |
17 | g.46031582T= | CA2262110753 | KANSL1 | c.3212A= (p.Lys1071=) c.3209A= (p.Lys1070=) c.3020A= (p.Lys1007=) c.3080A= (p.Lys1027=) n.7429A= n.985A= n.1184A= c.3110A= (p.Lys1037=) c.3023A= (p.Lys1008=) c.1982A= (p.Lys661=) | |
17 | g.46031583T>A | CA399985895 | KANSL1 | c.3211A>T (p.Lys1071Ter) c.3208A>T (p.Lys1070Ter) c.3019A>T (p.Lys1007Ter) c.3079A>T (p.Lys1027Ter) n.7428A>T n.984A>T n.1183A>T c.3109A>T (p.Lys1037Ter) c.3022A>T (p.Lys1008Ter) c.1981A>T (p.Lys661Ter) | |
17 | g.46031583T>C | CA399985897 | KANSL1 | c.3211A>G (p.Lys1071Glu) c.3208A>G (p.Lys1070Glu) c.3019A>G (p.Lys1007Glu) c.3079A>G (p.Lys1027Glu) n.7428A>G n.984A>G n.1183A>G c.3109A>G (p.Lys1037Glu) c.3022A>G (p.Lys1008Glu) c.1981A>G (p.Lys661Glu) | |
17 | g.46031583T>G | CA399985899 | KANSL1 | c.3211A>C (p.Lys1071Gln) c.3208A>C (p.Lys1070Gln) c.3019A>C (p.Lys1007Gln) c.3079A>C (p.Lys1027Gln) n.7428A>C n.984A>C n.1183A>C c.3109A>C (p.Lys1037Gln) c.3022A>C (p.Lys1008Gln) c.1981A>C (p.Lys661Gln) | |
17 | g.46031584G>A | CA500371660 | KANSL1 | c.3210C>T (p.Ser1070=) c.3207C>T (p.Ser1069=) c.3018C>T (p.Ser1006=) c.3078C>T (p.Ser1026=) n.7427C>T n.983C>T n.1182C>T c.3108C>T (p.Ser1036=) c.3021C>T (p.Ser1007=) c.1980C>T (p.Ser660=) | gnomAD v4 |
17 | g.46031584G>C | CA399985902 | KANSL1 | c.3210C>G (p.Ser1070Arg) c.3207C>G (p.Ser1069Arg) c.3018C>G (p.Ser1006Arg) c.3078C>G (p.Ser1026Arg) n.7427C>G n.983C>G n.1182C>G c.3108C>G (p.Ser1036Arg) c.3021C>G (p.Ser1007Arg) c.1980C>G (p.Ser660Arg) | |
17 | g.46031584G>T | CA399985911 | KANSL1 | c.3210C>A (p.Ser1070Arg) c.3207C>A (p.Ser1069Arg) c.3018C>A (p.Ser1006Arg) c.3078C>A (p.Ser1026Arg) n.7427C>A n.983C>A n.1182C>A c.3108C>A (p.Ser1036Arg) c.3021C>A (p.Ser1007Arg) c.1980C>A (p.Ser660Arg) | |
17 | g.46031585C>A | CA399985920 | KANSL1 | c.3209G>T (p.Ser1070Ile) c.3206G>T (p.Ser1069Ile) c.3017G>T (p.Ser1006Ile) c.3077G>T (p.Ser1026Ile) n.7426G>T n.982G>T n.1181G>T c.3107G>T (p.Ser1036Ile) c.3020G>T (p.Ser1007Ile) c.1979G>T (p.Ser660Ile) | COSMIC |
17 | g.46031585C>G | CA399985918 | KANSL1 | c.3209G>C (p.Ser1070Thr) c.3206G>C (p.Ser1069Thr) c.3017G>C (p.Ser1006Thr) c.3077G>C (p.Ser1026Thr) n.7426G>C n.982G>C n.1181G>C c.3107G>C (p.Ser1036Thr) c.3020G>C (p.Ser1007Thr) c.1979G>C (p.Ser660Thr) | |
17 | g.46031585C>T | CA399985915 | KANSL1 | c.3209G>A (p.Ser1070Asn) c.3206G>A (p.Ser1069Asn) c.3017G>A (p.Ser1006Asn) c.3077G>A (p.Ser1026Asn) n.7426G>A n.982G>A n.1181G>A c.3107G>A (p.Ser1036Asn) c.3020G>A (p.Ser1007Asn) c.1979G>A (p.Ser660Asn) | |
17 | g.46031586T>A | CA399985923 | KANSL1 | c.3208A>T (p.Ser1070Cys) c.3205A>T (p.Ser1069Cys) c.3016A>T (p.Ser1006Cys) c.3076A>T (p.Ser1026Cys) n.7425A>T n.981A>T n.1180A>T c.3106A>T (p.Ser1036Cys) c.3019A>T (p.Ser1007Cys) c.1978A>T (p.Ser660Cys) | |
17 | g.46031586T>C | CA399985925 | KANSL1 | c.3208A>G (p.Ser1070Gly) c.3205A>G (p.Ser1069Gly) c.3016A>G (p.Ser1006Gly) c.3076A>G (p.Ser1026Gly) n.7425A>G n.981A>G n.1180A>G c.3106A>G (p.Ser1036Gly) c.3019A>G (p.Ser1007Gly) c.1978A>G (p.Ser660Gly) | |
17 | g.46031586T>G | CA399985927 | KANSL1 | c.3208A>C (p.Ser1070Arg) c.3205A>C (p.Ser1069Arg) c.3016A>C (p.Ser1006Arg) c.3076A>C (p.Ser1026Arg) n.7425A>C n.981A>C n.1180A>C c.3106A>C (p.Ser1036Arg) c.3019A>C (p.Ser1007Arg) c.1978A>C (p.Ser660Arg) | |
17 | g.46031587G>A | CA500371663 | KANSL1 | c.3207C>T (p.Gly1069=) c.3204C>T (p.Gly1068=) c.3015C>T (p.Gly1005=) c.3075C>T (p.Gly1025=) n.7424C>T n.980C>T n.1179C>T c.3105C>T (p.Gly1035=) c.3018C>T (p.Gly1006=) c.1977C>T (p.Gly659=) | |
17 | g.46031587G>C | CA500371662 | KANSL1 | c.3207C>G (p.Gly1069=) c.3204C>G (p.Gly1068=) c.3015C>G (p.Gly1005=) c.3075C>G (p.Gly1025=) n.7424C>G n.980C>G n.1179C>G c.3105C>G (p.Gly1035=) c.3018C>G (p.Gly1006=) c.1977C>G (p.Gly659=) | |
17 | g.46031587G>T | CA500371661 | KANSL1 | c.3207C>A (p.Gly1069=) c.3204C>A (p.Gly1068=) c.3015C>A (p.Gly1005=) c.3075C>A (p.Gly1025=) n.7424C>A n.980C>A n.1179C>A c.3105C>A (p.Gly1035=) c.3018C>A (p.Gly1006=) c.1977C>A (p.Gly659=) | gnomAD v4 |
17 | g.46031588C>A | CA399985933 | KANSL1 | c.3206G>T (p.Gly1069Val) c.3203G>T (p.Gly1068Val) c.3014G>T (p.Gly1005Val) c.3074G>T (p.Gly1025Val) n.7423G>T n.979G>T n.1178G>T c.3104G>T (p.Gly1035Val) c.3017G>T (p.Gly1006Val) c.1976G>T (p.Gly659Val) | gnomAD v4 |
17 | g.46031588C>G | CA399985936 | KANSL1 | c.3206G>C (p.Gly1069Ala) c.3203G>C (p.Gly1068Ala) c.3014G>C (p.Gly1005Ala) c.3074G>C (p.Gly1025Ala) n.7423G>C n.979G>C n.1178G>C c.3104G>C (p.Gly1035Ala) c.3017G>C (p.Gly1006Ala) c.1976G>C (p.Gly659Ala) | |
17 | g.46031588C>T | CA399985938 | KANSL1 | c.3206G>A (p.Gly1069Asp) c.3203G>A (p.Gly1068Asp) c.3014G>A (p.Gly1005Asp) c.3074G>A (p.Gly1025Asp) n.7423G>A n.979G>A n.1178G>A c.3104G>A (p.Gly1035Asp) c.3017G>A (p.Gly1006Asp) c.1976G>A (p.Gly659Asp) | |
17 | g.46031589C>A | CA399985945 | KANSL1 | c.3205G>T (p.Gly1069Cys) c.3202G>T (p.Gly1068Cys) c.3013G>T (p.Gly1005Cys) c.3073G>T (p.Gly1025Cys) n.7422G>T n.978G>T n.1177G>T c.3103G>T (p.Gly1035Cys) c.3016G>T (p.Gly1006Cys) c.1975G>T (p.Gly659Cys) | |
17 | g.46031589C>G | CA399985941 | KANSL1 | c.3205G>C (p.Gly1069Arg) c.3202G>C (p.Gly1068Arg) c.3013G>C (p.Gly1005Arg) c.3073G>C (p.Gly1025Arg) n.7422G>C n.978G>C n.1177G>C c.3103G>C (p.Gly1035Arg) c.3016G>C (p.Gly1006Arg) c.1975G>C (p.Gly659Arg) | |
17 | g.46031589C>T | CA399985943 | KANSL1 | c.3205G>A (p.Gly1069Ser) c.3202G>A (p.Gly1068Ser) c.3013G>A (p.Gly1005Ser) c.3073G>A (p.Gly1025Ser) n.7422G>A n.978G>A n.1177G>A c.3103G>A (p.Gly1035Ser) c.3016G>A (p.Gly1006Ser) c.1975G>A (p.Gly659Ser) | |
17 | g.46031590T>A | CA500371664 | KANSL1 | c.3204A>T (p.Ser1068=) c.3201A>T (p.Ser1067=) c.3012A>T (p.Ser1004=) c.3072A>T (p.Ser1024=) n.7421A>T n.977A>T n.1176A>T c.3102A>T (p.Ser1034=) c.3015A>T (p.Ser1005=) c.1974A>T (p.Ser658=) | |
17 | g.46031590T>C | CA500371665 | KANSL1 | c.3204A>G (p.Ser1068=) c.3201A>G (p.Ser1067=) c.3012A>G (p.Ser1004=) c.3072A>G (p.Ser1024=) n.7421A>G n.977A>G n.1176A>G c.3102A>G (p.Ser1034=) c.3015A>G (p.Ser1005=) c.1974A>G (p.Ser658=) | |
17 | g.46031590T>G | CA500371666 | KANSL1 | c.3204A>C (p.Ser1068=) c.3201A>C (p.Ser1067=) c.3012A>C (p.Ser1004=) c.3072A>C (p.Ser1024=) n.7421A>C n.977A>C n.1176A>C c.3102A>C (p.Ser1034=) c.3015A>C (p.Ser1005=) c.1974A>C (p.Ser658=) | |
17 | g.46031591G>A | CA399985948 | KANSL1 | c.3203C>T (p.Ser1068Leu) c.3200C>T (p.Ser1067Leu) c.3011C>T (p.Ser1004Leu) c.3071C>T (p.Ser1024Leu) n.7420C>T n.976C>T n.1175C>T c.3101C>T (p.Ser1034Leu) c.3014C>T (p.Ser1005Leu) c.1973C>T (p.Ser658Leu) | gnomAD v4 |
17 | g.46031591G>C | CA399985949 | KANSL1 | c.3203C>G (p.Ser1068Ter) c.3200C>G (p.Ser1067Ter) c.3011C>G (p.Ser1004Ter) c.3071C>G (p.Ser1024Ter) n.7420C>G n.976C>G n.1175C>G c.3101C>G (p.Ser1034Ter) c.3014C>G (p.Ser1005Ter) c.1973C>G (p.Ser658Ter) | |
17 | g.46031591G>T | CA399985952 | KANSL1 | c.3203C>A (p.Ser1068Ter) c.3200C>A (p.Ser1067Ter) c.3011C>A (p.Ser1004Ter) c.3071C>A (p.Ser1024Ter) n.7420C>A n.976C>A n.1175C>A c.3101C>A (p.Ser1034Ter) c.3014C>A (p.Ser1005Ter) c.1973C>A (p.Ser658Ter) | |
17 | g.46031592A>C | CA399985955 | KANSL1 | c.3202T>G (p.Ser1068Ala) c.3199T>G (p.Ser1067Ala) c.3010T>G (p.Ser1004Ala) c.3070T>G (p.Ser1024Ala) n.7419T>G n.975T>G n.1174T>G c.3100T>G (p.Ser1034Ala) c.3013T>G (p.Ser1005Ala) c.1972T>G (p.Ser658Ala) | |
17 | g.46031592A>G | CA399985956 | KANSL1 | c.3202T>C (p.Ser1068Pro) c.3199T>C (p.Ser1067Pro) c.3010T>C (p.Ser1004Pro) c.3070T>C (p.Ser1024Pro) n.7419T>C n.975T>C n.1174T>C c.3100T>C (p.Ser1034Pro) c.3013T>C (p.Ser1005Pro) c.1972T>C (p.Ser658Pro) | gnomAD v4 |
17 | g.46031592A>T | CA399985958 | KANSL1 | c.3202T>A (p.Ser1068Thr) c.3199T>A (p.Ser1067Thr) c.3010T>A (p.Ser1004Thr) c.3070T>A (p.Ser1024Thr) n.7419T>A n.975T>A n.1174T>A c.3100T>A (p.Ser1034Thr) c.3013T>A (p.Ser1005Thr) c.1972T>A (p.Ser658Thr) | |
17 | g.46031593G>A | CA500371667 | KANSL1 | c.3201C>T (p.Thr1067=) c.3198C>T (p.Thr1066=) c.3009C>T (p.Thr1003=) c.3069C>T (p.Thr1023=) n.7418C>T n.974C>T n.1173C>T c.3099C>T (p.Thr1033=) c.3012C>T (p.Thr1004=) c.1971C>T (p.Thr657=) | |
17 | g.46031593G>C | CA500371669 | KANSL1 | c.3201C>G (p.Thr1067=) c.3198C>G (p.Thr1066=) c.3009C>G (p.Thr1003=) c.3069C>G (p.Thr1023=) n.7418C>G n.974C>G n.1173C>G c.3099C>G (p.Thr1033=) c.3012C>G (p.Thr1004=) c.1971C>G (p.Thr657=) | |
17 | g.46031593G>T | CA500371668 | KANSL1 | c.3201C>A (p.Thr1067=) c.3198C>A (p.Thr1066=) c.3009C>A (p.Thr1003=) c.3069C>A (p.Thr1023=) n.7418C>A n.974C>A n.1173C>A c.3099C>A (p.Thr1033=) c.3012C>A (p.Thr1004=) c.1971C>A (p.Thr657=) | |
17 | g.46031594G>A | CA399985961 | KANSL1 | c.3200C>T (p.Thr1067Ile) c.3197C>T (p.Thr1066Ile) c.3008C>T (p.Thr1003Ile) c.3068C>T (p.Thr1023Ile) n.7417C>T n.973C>T n.1172C>T c.3098C>T (p.Thr1033Ile) c.3011C>T (p.Thr1004Ile) c.1970C>T (p.Thr657Ile) | |
17 | g.46031594G>C | CA399985962 | KANSL1 | c.3200C>G (p.Thr1067Ser) c.3197C>G (p.Thr1066Ser) c.3008C>G (p.Thr1003Ser) c.3068C>G (p.Thr1023Ser) n.7417C>G n.973C>G n.1172C>G c.3098C>G (p.Thr1033Ser) c.3011C>G (p.Thr1004Ser) c.1970C>G (p.Thr657Ser) | |
17 | g.46031594G>T | CA399985963 | KANSL1 | c.3200C>A (p.Thr1067Asn) c.3197C>A (p.Thr1066Asn) c.3008C>A (p.Thr1003Asn) c.3068C>A (p.Thr1023Asn) n.7417C>A n.973C>A n.1172C>A c.3098C>A (p.Thr1033Asn) c.3011C>A (p.Thr1004Asn) c.1970C>A (p.Thr657Asn) | |
17 | g.46031595T>A | CA399985964 | KANSL1 | c.3199A>T (p.Thr1067Ser) c.3196A>T (p.Thr1066Ser) c.3007A>T (p.Thr1003Ser) c.3067A>T (p.Thr1023Ser) n.7416A>T n.972A>T n.1171A>T c.3097A>T (p.Thr1033Ser) c.3010A>T (p.Thr1004Ser) c.1969A>T (p.Thr657Ser) | |
17 | g.46031595T>C | CA399985965 | KANSL1 | c.3199A>G (p.Thr1067Ala) c.3196A>G (p.Thr1066Ala) c.3007A>G (p.Thr1003Ala) c.3067A>G (p.Thr1023Ala) n.7416A>G n.972A>G n.1171A>G c.3097A>G (p.Thr1033Ala) c.3010A>G (p.Thr1004Ala) c.1969A>G (p.Thr657Ala) | |
17 | g.46031595T>G | CA399985966 | KANSL1 | c.3199A>C (p.Thr1067Pro) c.3196A>C (p.Thr1066Pro) c.3007A>C (p.Thr1003Pro) c.3067A>C (p.Thr1023Pro) n.7416A>C n.972A>C n.1171A>C c.3097A>C (p.Thr1033Pro) c.3010A>C (p.Thr1004Pro) c.1969A>C (p.Thr657Pro) | |
17 | g.46031596G>A | CA500371671 | KANSL1 | c.3198C>T (p.Arg1066=) c.3195C>T (p.Arg1065=) c.3006C>T (p.Arg1002=) c.3066C>T (p.Arg1022=) n.7415C>T n.971C>T n.1170C>T c.3096C>T (p.Arg1032=) c.3009C>T (p.Arg1003=) c.1968C>T (p.Arg656=) | |
17 | g.46031596G>C | CA500371672 | KANSL1 | c.3198C>G (p.Arg1066=) c.3195C>G (p.Arg1065=) c.3006C>G (p.Arg1002=) c.3066C>G (p.Arg1022=) n.7415C>G n.971C>G n.1170C>G c.3096C>G (p.Arg1032=) c.3009C>G (p.Arg1003=) c.1968C>G (p.Arg656=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031596G= | CA2262110754 | KANSL1 | c.3198C= (p.Arg1066=) c.3195C= (p.Arg1065=) c.3006C= (p.Arg1002=) c.3066C= (p.Arg1022=) n.7415C= n.971C= n.1170C= c.3096C= (p.Arg1032=) c.3009C= (p.Arg1003=) c.1968C= (p.Arg656=) | |
17 | g.46031596G>T | CA500371670 | KANSL1 | c.3198C>A (p.Arg1066=) c.3195C>A (p.Arg1065=) c.3006C>A (p.Arg1002=) c.3066C>A (p.Arg1022=) n.7415C>A n.971C>A n.1170C>A c.3096C>A (p.Arg1032=) c.3009C>A (p.Arg1003=) c.1968C>A (p.Arg656=) | |
17 | g.46031597C>A | CA399985967 | KANSL1 | c.3197G>T (p.Arg1066Leu) c.3194G>T (p.Arg1065Leu) c.3005G>T (p.Arg1002Leu) c.3065G>T (p.Arg1022Leu) n.7414G>T n.970G>T n.1169G>T c.3095G>T (p.Arg1032Leu) c.3008G>T (p.Arg1003Leu) c.1967G>T (p.Arg656Leu) | COSMIC |
17 | g.46031597C= | CA2262110755 | KANSL1 | c.3197G= (p.Arg1066=) c.3194G= (p.Arg1065=) c.3005G= (p.Arg1002=) c.3065G= (p.Arg1022=) n.7414G= n.970G= n.1169G= c.3095G= (p.Arg1032=) c.3008G= (p.Arg1003=) c.1967G= (p.Arg656=) | |
17 | g.46031597C>G | CA399985968 | KANSL1 | c.3197G>C (p.Arg1066Pro) c.3194G>C (p.Arg1065Pro) c.3005G>C (p.Arg1002Pro) c.3065G>C (p.Arg1022Pro) n.7414G>C n.970G>C n.1169G>C c.3095G>C (p.Arg1032Pro) c.3008G>C (p.Arg1003Pro) c.1967G>C (p.Arg656Pro) | |
17 | g.46031597C>T | CA8618348 | KANSL1 | c.3197G>A (p.Arg1066His) c.3194G>A (p.Arg1065His) c.3005G>A (p.Arg1002His) c.3065G>A (p.Arg1022His) n.7414G>A n.970G>A n.1169G>A c.3095G>A (p.Arg1032His) c.3008G>A (p.Arg1003His) c.1967G>A (p.Arg656His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.46031598G>A | CA399985969 | KANSL1 | c.3196C>T (p.Arg1066Cys) c.3193C>T (p.Arg1065Cys) c.3004C>T (p.Arg1002Cys) c.3064C>T (p.Arg1022Cys) n.7413C>T n.969C>T n.1168C>T c.3094C>T (p.Arg1032Cys) c.3007C>T (p.Arg1003Cys) c.1966C>T (p.Arg656Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.46031598G>C | CA399985971 | KANSL1 | c.3196C>G (p.Arg1066Gly) c.3193C>G (p.Arg1065Gly) c.3004C>G (p.Arg1002Gly) c.3064C>G (p.Arg1022Gly) n.7413C>G n.969C>G n.1168C>G c.3094C>G (p.Arg1032Gly) c.3007C>G (p.Arg1003Gly) c.1966C>G (p.Arg656Gly) | |
17 | g.46031598G= | CA2262110756 | KANSL1 | c.3196C= (p.Arg1066=) c.3193C= (p.Arg1065=) c.3004C= (p.Arg1002=) c.3064C= (p.Arg1022=) n.7413C= n.969C= n.1168C= c.3094C= (p.Arg1032=) c.3007C= (p.Arg1003=) c.1966C= (p.Arg656=) | |
17 | g.46031598G>T | CA399985970 | KANSL1 | c.3196C>A (p.Arg1066Ser) c.3193C>A (p.Arg1065Ser) c.3004C>A (p.Arg1002Ser) c.3064C>A (p.Arg1022Ser) n.7413C>A n.969C>A n.1168C>A c.3094C>A (p.Arg1032Ser) c.3007C>A (p.Arg1003Ser) c.1966C>A (p.Arg656Ser) | |
17 | g.46031599T>A | CA500371673 | KANSL1 | c.3195A>T (p.Arg1065=) c.3192A>T (p.Arg1064=) c.3003A>T (p.Arg1001=) c.3063A>T (p.Arg1021=) n.7412A>T n.968A>T n.1167A>T c.3093A>T (p.Arg1031=) c.3006A>T (p.Arg1002=) c.1965A>T (p.Arg655=) | |
17 | g.46031599T>C | CA500371674 | KANSL1 | c.3195A>G (p.Arg1065=) c.3192A>G (p.Arg1064=) c.3003A>G (p.Arg1001=) c.3063A>G (p.Arg1021=) n.7412A>G n.968A>G n.1167A>G c.3093A>G (p.Arg1031=) c.3006A>G (p.Arg1002=) c.1965A>G (p.Arg655=) | |
17 | g.46031599T>G | CA500371675 | KANSL1 | c.3195A>C (p.Arg1065=) c.3192A>C (p.Arg1064=) c.3003A>C (p.Arg1001=) c.3063A>C (p.Arg1021=) n.7412A>C n.968A>C n.1167A>C c.3093A>C (p.Arg1031=) c.3006A>C (p.Arg1002=) c.1965A>C (p.Arg655=) | |
17 | g.46031600C>A | CA399985972 | KANSL1 | c.3194G>T (p.Arg1065Leu) c.3191G>T (p.Arg1064Leu) c.3002G>T (p.Arg1001Leu) c.3062G>T (p.Arg1021Leu) n.7411G>T n.967G>T n.1166G>T c.3092G>T (p.Arg1031Leu) c.3005G>T (p.Arg1002Leu) c.1964G>T (p.Arg655Leu) | |
17 | g.46031600C= | CA2262110757 | KANSL1 | c.3194G= (p.Arg1065=) c.3191G= (p.Arg1064=) c.3002G= (p.Arg1001=) c.3062G= (p.Arg1021=) n.7411G= n.967G= n.1166G= c.3092G= (p.Arg1031=) c.3005G= (p.Arg1002=) c.1964G= (p.Arg655=) | |
17 | g.46031600C>G | CA399985973 | KANSL1 | c.3194G>C (p.Arg1065Pro) c.3191G>C (p.Arg1064Pro) c.3002G>C (p.Arg1001Pro) c.3062G>C (p.Arg1021Pro) n.7411G>C n.967G>C n.1166G>C c.3092G>C (p.Arg1031Pro) c.3005G>C (p.Arg1002Pro) c.1964G>C (p.Arg655Pro) | |
17 | g.46031600C>T | CA399985974 | KANSL1 | c.3194G>A (p.Arg1065Gln) c.3191G>A (p.Arg1064Gln) c.3002G>A (p.Arg1001Gln) c.3062G>A (p.Arg1021Gln) n.7411G>A n.967G>A n.1166G>A c.3092G>A (p.Arg1031Gln) c.3005G>A (p.Arg1002Gln) c.1964G>A (p.Arg655Gln) | dbSNP gnomAD v4 |
17 | g.46031601G>A | CA399985975 | KANSL1 | c.3193C>T (p.Arg1065Ter) c.3190C>T (p.Arg1064Ter) c.3001C>T (p.Arg1001Ter) c.3061C>T (p.Arg1021Ter) n.7410C>T n.966C>T n.1165C>T c.3091C>T (p.Arg1031Ter) c.3004C>T (p.Arg1002Ter) c.1963C>T (p.Arg655Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.46031601G>C | CA399985976 | KANSL1 | c.3193C>G (p.Arg1065Gly) c.3190C>G (p.Arg1064Gly) c.3001C>G (p.Arg1001Gly) c.3061C>G (p.Arg1021Gly) n.7410C>G n.966C>G n.1165C>G c.3091C>G (p.Arg1031Gly) c.3004C>G (p.Arg1002Gly) c.1963C>G (p.Arg655Gly) | ClinVar dbSNP gnomAD v4 |
17 | g.46031601G>T | CA500371676 | KANSL1 | c.3193C>A (p.Arg1065=) c.3190C>A (p.Arg1064=) c.3001C>A (p.Arg1001=) c.3061C>A (p.Arg1021=) n.7410C>A n.966C>A n.1165C>A c.3091C>A (p.Arg1031=) c.3004C>A (p.Arg1002=) c.1963C>A (p.Arg655=) | |
17 | g.46031602A= | CA2262110758 | KANSL1 | c.3192T= (p.Thr1064=) c.3189T= (p.Thr1063=) c.3000T= (p.Thr1000=) c.3060T= (p.Thr1020=) n.7409T= n.965T= n.1164T= c.3090T= (p.Thr1030=) c.3003T= (p.Thr1001=) c.1962T= (p.Thr654=) | |
17 | g.46031602A>C | CA500371679 | KANSL1 | c.3192T>G (p.Thr1064=) c.3189T>G (p.Thr1063=) c.3000T>G (p.Thr1000=) c.3060T>G (p.Thr1020=) n.7409T>G n.965T>G n.1164T>G c.3090T>G (p.Thr1030=) c.3003T>G (p.Thr1001=) c.1962T>G (p.Thr654=) | |
17 | g.46031602A>G | CA500371678 | KANSL1 | c.3192T>C (p.Thr1064=) c.3189T>C (p.Thr1063=) c.3000T>C (p.Thr1000=) c.3060T>C (p.Thr1020=) n.7409T>C n.965T>C n.1164T>C c.3090T>C (p.Thr1030=) c.3003T>C (p.Thr1001=) c.1962T>C (p.Thr654=) | dbSNP |
17 | g.46031602A>T | CA500371677 | KANSL1 | c.3192T>A (p.Thr1064=) c.3189T>A (p.Thr1063=) c.3000T>A (p.Thr1000=) c.3060T>A (p.Thr1020=) n.7409T>A n.965T>A n.1164T>A c.3090T>A (p.Thr1030=) c.3003T>A (p.Thr1001=) c.1962T>A (p.Thr654=) | |
17 | g.46031603G>A | CA399985977 | KANSL1 | c.3191C>T (p.Thr1064Ile) c.3188C>T (p.Thr1063Ile) c.2999C>T (p.Thr1000Ile) c.3059C>T (p.Thr1020Ile) n.7408C>T n.964C>T n.1163C>T c.3089C>T (p.Thr1030Ile) c.3002C>T (p.Thr1001Ile) c.1961C>T (p.Thr654Ile) | gnomAD v4 |
17 | g.46031603G>C | CA399985978 | KANSL1 | c.3191C>G (p.Thr1064Ser) c.3188C>G (p.Thr1063Ser) c.2999C>G (p.Thr1000Ser) c.3059C>G (p.Thr1020Ser) n.7408C>G n.964C>G n.1163C>G c.3089C>G (p.Thr1030Ser) c.3002C>G (p.Thr1001Ser) c.1961C>G (p.Thr654Ser) | |
17 | g.46031603G>T | CA399985979 | KANSL1 | c.3191C>A (p.Thr1064Asn) c.3188C>A (p.Thr1063Asn) c.2999C>A (p.Thr1000Asn) c.3059C>A (p.Thr1020Asn) n.7408C>A n.964C>A n.1163C>A c.3089C>A (p.Thr1030Asn) c.3002C>A (p.Thr1001Asn) c.1961C>A (p.Thr654Asn) | |
17 | g.46031604_46031610dup | CA2638370880 | KANSL1 | c.3185_3191dup (p.Arg1065LeufsTer?) c.3182_3188dup (p.Arg1064LeufsTer?) c.2993_2999dup (p.Arg1001LeufsTer?) c.3053_3059dup (p.Arg1021LeufsTer?) n.7402_7408dup n.958_964dup n.1157_1163dup c.3083_3089dup (p.Arg1031LeufsTer?) c.2996_3002dup (p.Arg1002LeufsTer?) c.1955_1961dup (p.Arg655LeufsTer?) | gnomAD v4 |
17 | g.46031604T>A | CA399985980 | KANSL1 | c.3190A>T (p.Thr1064Ser) c.3187A>T (p.Thr1063Ser) c.2998A>T (p.Thr1000Ser) c.3058A>T (p.Thr1020Ser) n.7407A>T n.963A>T n.1162A>T c.3088A>T (p.Thr1030Ser) c.3001A>T (p.Thr1001Ser) c.1960A>T (p.Thr654Ser) | |
17 | g.46031604T>C | CA291125327 | KANSL1 | c.3190A>G (p.Thr1064Ala) c.3187A>G (p.Thr1063Ala) c.2998A>G (p.Thr1000Ala) c.3058A>G (p.Thr1020Ala) n.7407A>G n.963A>G n.1162A>G c.3088A>G (p.Thr1030Ala) c.3001A>G (p.Thr1001Ala) c.1960A>G (p.Thr654Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031604T>G | CA399985981 | KANSL1 | c.3190A>C (p.Thr1064Pro) c.3187A>C (p.Thr1063Pro) c.2998A>C (p.Thr1000Pro) c.3058A>C (p.Thr1020Pro) n.7407A>C n.963A>C n.1162A>C c.3088A>C (p.Thr1030Pro) c.3001A>C (p.Thr1001Pro) c.1960A>C (p.Thr654Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.46031604T= | CA2262110759 | KANSL1 | c.3190A= (p.Thr1064=) c.3187A= (p.Thr1063=) c.2998A= (p.Thr1000=) c.3058A= (p.Thr1020=) n.7407A= n.963A= n.1162A= c.3088A= (p.Thr1030=) c.3001A= (p.Thr1001=) c.1960A= (p.Thr654=) | |
17 | g.46031605G>A | CA500371680 | KANSL1 | c.3189C>T (p.Cys1063=) c.3186C>T (p.Cys1062=) c.2997C>T (p.Cys999=) c.3057C>T (p.Cys1019=) n.7406C>T n.962C>T n.1161C>T c.3087C>T (p.Cys1029=) c.3000C>T (p.Cys1000=) c.1959C>T (p.Cys653=) | dbSNP |
17 | g.46031605G>C | CA399985982 | KANSL1 | c.3189C>G (p.Cys1063Trp) c.3186C>G (p.Cys1062Trp) c.2997C>G (p.Cys999Trp) c.3057C>G (p.Cys1019Trp) n.7406C>G n.962C>G n.1161C>G c.3087C>G (p.Cys1029Trp) c.3000C>G (p.Cys1000Trp) c.1959C>G (p.Cys653Trp) | |
17 | g.46031605G= | CA2262110760 | KANSL1 | c.3189C= (p.Cys1063=) c.3186C= (p.Cys1062=) c.2997C= (p.Cys999=) c.3057C= (p.Cys1019=) n.7406C= n.962C= n.1161C= c.3087C= (p.Cys1029=) c.3000C= (p.Cys1000=) c.1959C= (p.Cys653=) | |
17 | g.46031605G>T | CA399985983 | KANSL1 | c.3189C>A (p.Cys1063Ter) c.3186C>A (p.Cys1062Ter) c.2997C>A (p.Cys999Ter) c.3057C>A (p.Cys1019Ter) n.7406C>A n.962C>A n.1161C>A c.3087C>A (p.Cys1029Ter) c.3000C>A (p.Cys1000Ter) c.1959C>A (p.Cys653Ter) | |
17 | g.46031606C>A | CA399985984 | KANSL1 | c.3188G>T (p.Cys1063Phe) c.3185G>T (p.Cys1062Phe) c.2996G>T (p.Cys999Phe) c.3056G>T (p.Cys1019Phe) n.7405G>T n.961G>T n.1160G>T c.3086G>T (p.Cys1029Phe) c.2999G>T (p.Cys1000Phe) c.1958G>T (p.Cys653Phe) | |
17 | g.46031606C>G | CA399985986 | KANSL1 | c.3188G>C (p.Cys1063Ser) c.3185G>C (p.Cys1062Ser) c.2996G>C (p.Cys999Ser) c.3056G>C (p.Cys1019Ser) n.7405G>C n.961G>C n.1160G>C c.3086G>C (p.Cys1029Ser) c.2999G>C (p.Cys1000Ser) c.1958G>C (p.Cys653Ser) | |
17 | g.46031606C>T | CA399985985 | KANSL1 | c.3188G>A (p.Cys1063Tyr) c.3185G>A (p.Cys1062Tyr) c.2996G>A (p.Cys999Tyr) c.3056G>A (p.Cys1019Tyr) n.7405G>A n.961G>A n.1160G>A c.3086G>A (p.Cys1029Tyr) c.2999G>A (p.Cys1000Tyr) c.1958G>A (p.Cys653Tyr) | |
17 | g.46031607A>C | CA399985987 | KANSL1 | c.3187T>G (p.Cys1063Gly) c.3184T>G (p.Cys1062Gly) c.2995T>G (p.Cys999Gly) c.3055T>G (p.Cys1019Gly) n.7404T>G n.960T>G n.1159T>G c.3085T>G (p.Cys1029Gly) c.2998T>G (p.Cys1000Gly) c.1957T>G (p.Cys653Gly) | |
17 | g.46031607A>G | CA399985988 | KANSL1 | c.3187T>C (p.Cys1063Arg) c.3184T>C (p.Cys1062Arg) c.2995T>C (p.Cys999Arg) c.3055T>C (p.Cys1019Arg) n.7404T>C n.960T>C n.1159T>C c.3085T>C (p.Cys1029Arg) c.2998T>C (p.Cys1000Arg) c.1957T>C (p.Cys653Arg) | gnomAD v4 |
17 | g.46031607A>T | CA399985989 | KANSL1 | c.3187T>A (p.Cys1063Ser) c.3184T>A (p.Cys1062Ser) c.2995T>A (p.Cys999Ser) c.3055T>A (p.Cys1019Ser) n.7404T>A n.960T>A n.1159T>A c.3085T>A (p.Cys1029Ser) c.2998T>A (p.Cys1000Ser) c.1957T>A (p.Cys653Ser) | |
17 | g.46031608G>A | CA500371682 | KANSL1 | c.3186C>T (p.Arg1062=) c.3183C>T (p.Arg1061=) c.2994C>T (p.Arg998=) c.3054C>T (p.Arg1018=) n.7403C>T n.959C>T n.1158C>T c.3084C>T (p.Arg1028=) c.2997C>T (p.Arg999=) c.1956C>T (p.Arg652=) | |
17 | g.46031608G>C | CA500371681 | KANSL1 | c.3186C>G (p.Arg1062=) c.3183C>G (p.Arg1061=) c.2994C>G (p.Arg998=) c.3054C>G (p.Arg1018=) n.7403C>G n.959C>G n.1158C>G c.3084C>G (p.Arg1028=) c.2997C>G (p.Arg999=) c.1956C>G (p.Arg652=) | |
17 | g.46031608G= | CA2262110761 | KANSL1 | c.3186C= (p.Arg1062=) c.3183C= (p.Arg1061=) c.2994C= (p.Arg998=) c.3054C= (p.Arg1018=) n.7403C= n.959C= n.1158C= c.3084C= (p.Arg1028=) c.2997C= (p.Arg999=) c.1956C= (p.Arg652=) | |
17 | g.46031608G>T | CA8618349 | KANSL1 | c.3186C>A (p.Arg1062=) c.3183C>A (p.Arg1061=) c.2994C>A (p.Arg998=) c.3054C>A (p.Arg1018=) n.7403C>A n.959C>A n.1158C>A c.3084C>A (p.Arg1028=) c.2997C>A (p.Arg999=) c.1956C>A (p.Arg652=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031609C>A | CA399985990 | KANSL1 | c.3185G>T (p.Arg1062Leu) c.3182G>T (p.Arg1061Leu) c.2993G>T (p.Arg998Leu) c.3053G>T (p.Arg1018Leu) n.7402G>T n.958G>T n.1157G>T c.3083G>T (p.Arg1028Leu) c.2996G>T (p.Arg999Leu) c.1955G>T (p.Arg652Leu) | |
17 | g.46031609C= | CA2262110762 | KANSL1 | c.3185G= (p.Arg1062=) c.3182G= (p.Arg1061=) c.2993G= (p.Arg998=) c.3053G= (p.Arg1018=) n.7402G= n.958G= n.1157G= c.3083G= (p.Arg1028=) c.2996G= (p.Arg999=) c.1955G= (p.Arg652=) | |
17 | g.46031609C>G | CA399985991 | KANSL1 | c.3185G>C (p.Arg1062Pro) c.3182G>C (p.Arg1061Pro) c.2993G>C (p.Arg998Pro) c.3053G>C (p.Arg1018Pro) n.7402G>C n.958G>C n.1157G>C c.3083G>C (p.Arg1028Pro) c.2996G>C (p.Arg999Pro) c.1955G>C (p.Arg652Pro) | |
17 | g.46031609C>T | CA8618350 | KANSL1 | c.3185G>A (p.Arg1062His) c.3182G>A (p.Arg1061His) c.2993G>A (p.Arg998His) c.3053G>A (p.Arg1018His) n.7402G>A n.958G>A n.1157G>A c.3083G>A (p.Arg1028His) c.2996G>A (p.Arg999His) c.1955G>A (p.Arg652His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031610G>A | CA399985992 | KANSL1 | c.3184C>T (p.Arg1062Cys) c.3181C>T (p.Arg1061Cys) c.2992C>T (p.Arg998Cys) c.3052C>T (p.Arg1018Cys) n.7401C>T n.957C>T n.1156C>T c.3082C>T (p.Arg1028Cys) c.2995C>T (p.Arg999Cys) c.1954C>T (p.Arg652Cys) | ClinVar dbSNP gnomAD v4 |
17 | g.46031610G>C | CA399985993 | KANSL1 | c.3184C>G (p.Arg1062Gly) c.3181C>G (p.Arg1061Gly) c.2992C>G (p.Arg998Gly) c.3052C>G (p.Arg1018Gly) n.7401C>G n.957C>G n.1156C>G c.3082C>G (p.Arg1028Gly) c.2995C>G (p.Arg999Gly) c.1954C>G (p.Arg652Gly) | |
17 | g.46031610G= | CA2262110763 | KANSL1 | c.3184C= (p.Arg1062=) c.3181C= (p.Arg1061=) c.2992C= (p.Arg998=) c.3052C= (p.Arg1018=) n.7401C= n.957C= n.1156C= c.3082C= (p.Arg1028=) c.2995C= (p.Arg999=) c.1954C= (p.Arg652=) | |
17 | g.46031610G>T | CA399985994 | KANSL1 | c.3184C>A (p.Arg1062Ser) c.3181C>A (p.Arg1061Ser) c.2992C>A (p.Arg998Ser) c.3052C>A (p.Arg1018Ser) n.7401C>A n.957C>A n.1156C>A c.3082C>A (p.Arg1028Ser) c.2995C>A (p.Arg999Ser) c.1954C>A (p.Arg652Ser) | |
17 | g.46031611G>A | CA500371685 | KANSL1 | c.3183C>T (p.Ala1061=) c.3180C>T (p.Ala1060=) c.2991C>T (p.Ala997=) c.3051C>T (p.Ala1017=) n.7400C>T n.956C>T n.1155C>T c.3081C>T (p.Ala1027=) c.2994C>T (p.Ala998=) c.1953C>T (p.Ala651=) | |
17 | g.46031611G>C | CA500371683 | KANSL1 | c.3183C>G (p.Ala1061=) c.3180C>G (p.Ala1060=) c.2991C>G (p.Ala997=) c.3051C>G (p.Ala1017=) n.7400C>G n.956C>G n.1155C>G c.3081C>G (p.Ala1027=) c.2994C>G (p.Ala998=) c.1953C>G (p.Ala651=) | gnomAD v4 |
17 | g.46031611G>T | CA500371684 | KANSL1 | c.3183C>A (p.Ala1061=) c.3180C>A (p.Ala1060=) c.2991C>A (p.Ala997=) c.3051C>A (p.Ala1017=) n.7400C>A n.956C>A n.1155C>A c.3081C>A (p.Ala1027=) c.2994C>A (p.Ala998=) c.1953C>A (p.Ala651=) | |
17 | g.46031612G>A | CA399985997 | KANSL1 | c.3182C>T (p.Ala1061Val) c.3179C>T (p.Ala1060Val) c.2990C>T (p.Ala997Val) c.3050C>T (p.Ala1017Val) n.7399C>T n.955C>T n.1154C>T c.3080C>T (p.Ala1027Val) c.2993C>T (p.Ala998Val) c.1952C>T (p.Ala651Val) | gnomAD v4 |
17 | g.46031612G>C | CA399985996 | KANSL1 | c.3182C>G (p.Ala1061Gly) c.3179C>G (p.Ala1060Gly) c.2990C>G (p.Ala997Gly) c.3050C>G (p.Ala1017Gly) n.7399C>G n.955C>G n.1154C>G c.3080C>G (p.Ala1027Gly) c.2993C>G (p.Ala998Gly) c.1952C>G (p.Ala651Gly) | |
17 | g.46031612G>T | CA399985995 | KANSL1 | c.3182C>A (p.Ala1061Asp) c.3179C>A (p.Ala1060Asp) c.2990C>A (p.Ala997Asp) c.3050C>A (p.Ala1017Asp) n.7399C>A n.955C>A n.1154C>A c.3080C>A (p.Ala1027Asp) c.2993C>A (p.Ala998Asp) c.1952C>A (p.Ala651Asp) | |
17 | g.46031613C>A | CA399985998 | KANSL1 | c.3181G>T (p.Ala1061Ser) c.3178G>T (p.Ala1060Ser) c.2989G>T (p.Ala997Ser) c.3049G>T (p.Ala1017Ser) n.7398G>T n.954G>T n.1153G>T c.3079G>T (p.Ala1027Ser) c.2992G>T (p.Ala998Ser) c.1951G>T (p.Ala651Ser) | |
17 | g.46031613C= | CA2262110764 | KANSL1 | c.3181G= (p.Ala1061=) c.3178G= (p.Ala1060=) c.2989G= (p.Ala997=) c.3049G= (p.Ala1017=) n.7398G= n.954G= n.1153G= c.3079G= (p.Ala1027=) c.2992G= (p.Ala998=) c.1951G= (p.Ala651=) | |
17 | g.46031613C>G | CA399985999 | KANSL1 | c.3181G>C (p.Ala1061Pro) c.3178G>C (p.Ala1060Pro) c.2989G>C (p.Ala997Pro) c.3049G>C (p.Ala1017Pro) n.7398G>C n.954G>C n.1153G>C c.3079G>C (p.Ala1027Pro) c.2992G>C (p.Ala998Pro) c.1951G>C (p.Ala651Pro) | |
17 | g.46031613C>T | CA8618351 | KANSL1 | c.3181G>A (p.Ala1061Thr) c.3178G>A (p.Ala1060Thr) c.2989G>A (p.Ala997Thr) c.3049G>A (p.Ala1017Thr) n.7398G>A n.954G>A n.1153G>A c.3079G>A (p.Ala1027Thr) c.2992G>A (p.Ala998Thr) c.1951G>A (p.Ala651Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031614T>A | CA500371688 | KANSL1 | c.3180A>T (p.Ala1060=) c.3177A>T (p.Ala1059=) c.2988A>T (p.Ala996=) c.3048A>T (p.Ala1016=) n.7397A>T n.953A>T n.1152A>T c.3078A>T (p.Ala1026=) c.2991A>T (p.Ala997=) c.1950A>T (p.Ala650=) | |
17 | g.46031614T>C | CA500371687 | KANSL1 | c.3180A>G (p.Ala1060=) c.3177A>G (p.Ala1059=) c.2988A>G (p.Ala996=) c.3048A>G (p.Ala1016=) n.7397A>G n.953A>G n.1152A>G c.3078A>G (p.Ala1026=) c.2991A>G (p.Ala997=) c.1950A>G (p.Ala650=) | gnomAD v4 |
17 | g.46031614T>G | CA500371686 | KANSL1 | c.3180A>C (p.Ala1060=) c.3177A>C (p.Ala1059=) c.2988A>C (p.Ala996=) c.3048A>C (p.Ala1016=) n.7397A>C n.953A>C n.1152A>C c.3078A>C (p.Ala1026=) c.2991A>C (p.Ala997=) c.1950A>C (p.Ala650=) | |
17 | g.46031615G>A | CA399986000 | KANSL1 | c.3179C>T (p.Ala1060Val) c.3176C>T (p.Ala1059Val) c.2987C>T (p.Ala996Val) c.3047C>T (p.Ala1016Val) n.7396C>T n.952C>T n.1151C>T c.3077C>T (p.Ala1026Val) c.2990C>T (p.Ala997Val) c.1949C>T (p.Ala650Val) | |
17 | g.46031615G>C | CA399986001 | KANSL1 | c.3179C>G (p.Ala1060Gly) c.3176C>G (p.Ala1059Gly) c.2987C>G (p.Ala996Gly) c.3047C>G (p.Ala1016Gly) n.7396C>G n.952C>G n.1151C>G c.3077C>G (p.Ala1026Gly) c.2990C>G (p.Ala997Gly) c.1949C>G (p.Ala650Gly) | |
17 | g.46031615G>T | CA399986002 | KANSL1 | c.3179C>A (p.Ala1060Glu) c.3176C>A (p.Ala1059Glu) c.2987C>A (p.Ala996Glu) c.3047C>A (p.Ala1016Glu) n.7396C>A n.952C>A n.1151C>A c.3077C>A (p.Ala1026Glu) c.2990C>A (p.Ala997Glu) c.1949C>A (p.Ala650Glu) | |
17 | g.46031616C>A | CA399986003 | KANSL1 | c.3178G>T (p.Ala1060Ser) c.3175G>T (p.Ala1059Ser) c.2986G>T (p.Ala996Ser) c.3046G>T (p.Ala1016Ser) n.7395G>T n.951G>T n.1150G>T c.3076G>T (p.Ala1026Ser) c.2989G>T (p.Ala997Ser) c.1948G>T (p.Ala650Ser) | |
17 | g.46031616C>G | CA399986004 | KANSL1 | c.3178G>C (p.Ala1060Pro) c.3175G>C (p.Ala1059Pro) c.2986G>C (p.Ala996Pro) c.3046G>C (p.Ala1016Pro) n.7395G>C n.951G>C n.1150G>C c.3076G>C (p.Ala1026Pro) c.2989G>C (p.Ala997Pro) c.1948G>C (p.Ala650Pro) | |
17 | g.46031616C>T | CA399986005 | KANSL1 | c.3178G>A (p.Ala1060Thr) c.3175G>A (p.Ala1059Thr) c.2986G>A (p.Ala996Thr) c.3046G>A (p.Ala1016Thr) n.7395G>A n.951G>A n.1150G>A c.3076G>A (p.Ala1026Thr) c.2989G>A (p.Ala997Thr) c.1948G>A (p.Ala650Thr) | |
17 | g.46031617T>A | CA500371689 | KANSL1 | c.3177A>T (p.Arg1059=) c.3174A>T (p.Arg1058=) c.2985A>T (p.Arg995=) c.3045A>T (p.Arg1015=) n.7394A>T n.950A>T n.1149A>T c.3075A>T (p.Arg1025=) c.2988A>T (p.Arg996=) c.1947A>T (p.Arg649=) | |
17 | g.46031617T>C | CA8618352 | KANSL1 | c.3177A>G (p.Arg1059=) c.3174A>G (p.Arg1058=) c.2985A>G (p.Arg995=) c.3045A>G (p.Arg1015=) n.7394A>G n.950A>G n.1149A>G c.3075A>G (p.Arg1025=) c.2988A>G (p.Arg996=) c.1947A>G (p.Arg649=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031617T>G | CA500371690 | KANSL1 | c.3177A>C (p.Arg1059=) c.3174A>C (p.Arg1058=) c.2985A>C (p.Arg995=) c.3045A>C (p.Arg1015=) n.7394A>C n.950A>C n.1149A>C c.3075A>C (p.Arg1025=) c.2988A>C (p.Arg996=) c.1947A>C (p.Arg649=) | gnomAD v4 |
17 | g.46031617T= | CA2262110765 | KANSL1 | c.3177A= (p.Arg1059=) c.3174A= (p.Arg1058=) c.2985A= (p.Arg995=) c.3045A= (p.Arg1015=) n.7394A= n.950A= n.1149A= c.3075A= (p.Arg1025=) c.2988A= (p.Arg996=) c.1947A= (p.Arg649=) | |
17 | g.46031618C>A | CA399986006 | KANSL1 | c.3176G>T (p.Arg1059Leu) c.3173G>T (p.Arg1058Leu) c.2984G>T (p.Arg995Leu) c.3044G>T (p.Arg1015Leu) n.7393G>T n.949G>T n.1148G>T c.3074G>T (p.Arg1025Leu) c.2987G>T (p.Arg996Leu) c.1946G>T (p.Arg649Leu) | |
17 | g.46031618C= | CA2262110766 | KANSL1 | c.3176G= (p.Arg1059=) c.3173G= (p.Arg1058=) c.2984G= (p.Arg995=) c.3044G= (p.Arg1015=) n.7393G= n.949G= n.1148G= c.3074G= (p.Arg1025=) c.2987G= (p.Arg996=) c.1946G= (p.Arg649=) | |
17 | g.46031618C>G | CA399986007 | KANSL1 | c.3176G>C (p.Arg1059Pro) c.3173G>C (p.Arg1058Pro) c.2984G>C (p.Arg995Pro) c.3044G>C (p.Arg1015Pro) n.7393G>C n.949G>C n.1148G>C c.3074G>C (p.Arg1025Pro) c.2987G>C (p.Arg996Pro) c.1946G>C (p.Arg649Pro) | |
17 | g.46031618C>T | CA8618353 | KANSL1 | c.3176G>A (p.Arg1059Gln) c.3173G>A (p.Arg1058Gln) c.2984G>A (p.Arg995Gln) c.3044G>A (p.Arg1015Gln) n.7393G>A n.949G>A n.1148G>A c.3074G>A (p.Arg1025Gln) c.2987G>A (p.Arg996Gln) c.1946G>A (p.Arg649Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031619G>A | CA399986009 | KANSL1 | c.3175C>T (p.Arg1059Ter) c.3172C>T (p.Arg1058Ter) c.2983C>T (p.Arg995Ter) c.3043C>T (p.Arg1015Ter) n.7392C>T n.948C>T n.1147C>T c.3073C>T (p.Arg1025Ter) c.2986C>T (p.Arg996Ter) c.1945C>T (p.Arg649Ter) | dbSNP COSMIC |
17 | g.46031619G>C | CA399986008 | KANSL1 | c.3175C>G (p.Arg1059Gly) c.3172C>G (p.Arg1058Gly) c.2983C>G (p.Arg995Gly) c.3043C>G (p.Arg1015Gly) n.7392C>G n.948C>G n.1147C>G c.3073C>G (p.Arg1025Gly) c.2986C>G (p.Arg996Gly) c.1945C>G (p.Arg649Gly) | ClinVar dbSNP gnomAD v4 |
17 | g.46031619G= | CA2262110767 | KANSL1 | c.3175C= (p.Arg1059=) c.3172C= (p.Arg1058=) c.2983C= (p.Arg995=) c.3043C= (p.Arg1015=) n.7392C= n.948C= n.1147C= c.3073C= (p.Arg1025=) c.2986C= (p.Arg996=) c.1945C= (p.Arg649=) | |
17 | g.46031619G>T | CA500371691 | KANSL1 | c.3175C>A (p.Arg1059=) c.3172C>A (p.Arg1058=) c.2983C>A (p.Arg995=) c.3043C>A (p.Arg1015=) n.7392C>A n.948C>A n.1147C>A c.3073C>A (p.Arg1025=) c.2986C>A (p.Arg996=) c.1945C>A (p.Arg649=) | |
17 | g.46031620C>A | CA399986010 | KANSL1 | c.3174G>T (p.Glu1058Asp) c.3171G>T (p.Glu1057Asp) c.2982G>T (p.Glu994Asp) c.3042G>T (p.Glu1014Asp) n.7391G>T n.947G>T n.1146G>T c.3072G>T (p.Glu1024Asp) c.2985G>T (p.Glu995Asp) c.1944G>T (p.Glu648Asp) | |
17 | g.46031620C>G | CA399986011 | KANSL1 | c.3174G>C (p.Glu1058Asp) c.3171G>C (p.Glu1057Asp) c.2982G>C (p.Glu994Asp) c.3042G>C (p.Glu1014Asp) n.7391G>C n.947G>C n.1146G>C c.3072G>C (p.Glu1024Asp) c.2985G>C (p.Glu995Asp) c.1944G>C (p.Glu648Asp) | |
17 | g.46031620C>T | CA500371692 | KANSL1 | c.3174G>A (p.Glu1058=) c.3171G>A (p.Glu1057=) c.2982G>A (p.Glu994=) c.3042G>A (p.Glu1014=) n.7391G>A n.947G>A n.1146G>A c.3072G>A (p.Glu1024=) c.2985G>A (p.Glu995=) c.1944G>A (p.Glu648=) | gnomAD v4 |
17 | g.46031621T>A | CA399986012 | KANSL1 | c.3173A>T (p.Glu1058Val) c.3170A>T (p.Glu1057Val) c.2981A>T (p.Glu994Val) c.3041A>T (p.Glu1014Val) n.7390A>T n.946A>T n.1145A>T c.3071A>T (p.Glu1024Val) c.2984A>T (p.Glu995Val) c.1943A>T (p.Glu648Val) | |
17 | g.46031621T>C | CA399986013 | KANSL1 | c.3173A>G (p.Glu1058Gly) c.3170A>G (p.Glu1057Gly) c.2981A>G (p.Glu994Gly) c.3041A>G (p.Glu1014Gly) n.7390A>G n.946A>G n.1145A>G c.3071A>G (p.Glu1024Gly) c.2984A>G (p.Glu995Gly) c.1943A>G (p.Glu648Gly) | |
17 | g.46031621T>G | CA399986014 | KANSL1 | c.3173A>C (p.Glu1058Ala) c.3170A>C (p.Glu1057Ala) c.2981A>C (p.Glu994Ala) c.3041A>C (p.Glu1014Ala) n.7390A>C n.946A>C n.1145A>C c.3071A>C (p.Glu1024Ala) c.2984A>C (p.Glu995Ala) c.1943A>C (p.Glu648Ala) | |
17 | g.46031622C>A | CA399986015 | KANSL1 | c.3172G>T (p.Glu1058Ter) c.3169G>T (p.Glu1057Ter) c.2980G>T (p.Glu994Ter) c.3040G>T (p.Glu1014Ter) n.7389G>T n.945G>T n.1144G>T c.3070G>T (p.Glu1024Ter) c.2983G>T (p.Glu995Ter) c.1942G>T (p.Glu648Ter) | ClinVar |
17 | g.46031622C>G | CA399986016 | KANSL1 | c.3172G>C (p.Glu1058Gln) c.3169G>C (p.Glu1057Gln) c.2980G>C (p.Glu994Gln) c.3040G>C (p.Glu1014Gln) n.7389G>C n.945G>C n.1144G>C c.3070G>C (p.Glu1024Gln) c.2983G>C (p.Glu995Gln) c.1942G>C (p.Glu648Gln) | |
17 | g.46031622C>T | CA399986017 | KANSL1 | c.3172G>A (p.Glu1058Lys) c.3169G>A (p.Glu1057Lys) c.2980G>A (p.Glu994Lys) c.3040G>A (p.Glu1014Lys) n.7389G>A n.945G>A n.1144G>A c.3070G>A (p.Glu1024Lys) c.2983G>A (p.Glu995Lys) c.1942G>A (p.Glu648Lys) | |
17 | g.46031623C>A | CA399986018 | KANSL1 | c.3171G>T (p.Gln1057His) c.3168G>T (p.Gln1056His) c.2979G>T (p.Gln993His) c.3039G>T (p.Gln1013His) n.7388G>T n.944G>T n.1143G>T c.3069G>T (p.Gln1023His) c.2982G>T (p.Gln994His) c.1941G>T (p.Gln647His) | |
17 | g.46031623C>G | CA399986019 | KANSL1 | c.3171G>C (p.Gln1057His) c.3168G>C (p.Gln1056His) c.2979G>C (p.Gln993His) c.3039G>C (p.Gln1013His) n.7388G>C n.944G>C n.1143G>C c.3069G>C (p.Gln1023His) c.2982G>C (p.Gln994His) c.1941G>C (p.Gln647His) | |
17 | g.46031623C>T | CA500371693 | KANSL1 | c.3171G>A (p.Gln1057=) c.3168G>A (p.Gln1056=) c.2979G>A (p.Gln993=) c.3039G>A (p.Gln1013=) n.7388G>A n.944G>A n.1143G>A c.3069G>A (p.Gln1023=) c.2982G>A (p.Gln994=) c.1941G>A (p.Gln647=) | gnomAD v4 |
17 | g.46031624T>A | CA399986020 | KANSL1 | c.3170A>T (p.Gln1057Leu) c.3167A>T (p.Gln1056Leu) c.2978A>T (p.Gln993Leu) c.3038A>T (p.Gln1013Leu) n.7387A>T n.943A>T n.1142A>T c.3068A>T (p.Gln1023Leu) c.2981A>T (p.Gln994Leu) c.1940A>T (p.Gln647Leu) | dbSNP gnomAD v2 |
17 | g.46031624T>C | CA315140 | KANSL1 | c.3170A>G (p.Gln1057Arg) c.3167A>G (p.Gln1056Arg) c.2978A>G (p.Gln993Arg) c.3038A>G (p.Gln1013Arg) n.7387A>G n.943A>G n.1142A>G c.3068A>G (p.Gln1023Arg) c.2981A>G (p.Gln994Arg) c.1940A>G (p.Gln647Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031624T>G | CA399986021 | KANSL1 | c.3170A>C (p.Gln1057Pro) c.3167A>C (p.Gln1056Pro) c.2978A>C (p.Gln993Pro) c.3038A>C (p.Gln1013Pro) n.7387A>C n.943A>C n.1142A>C c.3068A>C (p.Gln1023Pro) c.2981A>C (p.Gln994Pro) c.1940A>C (p.Gln647Pro) | |
17 | g.46031624T= | CA2262110768 | KANSL1 | c.3170A= (p.Gln1057=) c.3167A= (p.Gln1056=) c.2978A= (p.Gln993=) c.3038A= (p.Gln1013=) n.7387A= n.943A= n.1142A= c.3068A= (p.Gln1023=) c.2981A= (p.Gln994=) c.1940A= (p.Gln647=) | |
17 | g.46031625G>A | CA399986024 | KANSL1 | c.3169C>T (p.Gln1057Ter) c.3166C>T (p.Gln1056Ter) c.2977C>T (p.Gln993Ter) c.3037C>T (p.Gln1013Ter) n.7386C>T n.942C>T n.1141C>T c.3067C>T (p.Gln1023Ter) c.2980C>T (p.Gln994Ter) c.1939C>T (p.Gln647Ter) | |
17 | g.46031625G>C | CA399986023 | KANSL1 | c.3169C>G (p.Gln1057Glu) c.3166C>G (p.Gln1056Glu) c.2977C>G (p.Gln993Glu) c.3037C>G (p.Gln1013Glu) n.7386C>G n.942C>G n.1141C>G c.3067C>G (p.Gln1023Glu) c.2980C>G (p.Gln994Glu) c.1939C>G (p.Gln647Glu) | ClinVar |
17 | g.46031625G>T | CA399986022 | KANSL1 | c.3169C>A (p.Gln1057Lys) c.3166C>A (p.Gln1056Lys) c.2977C>A (p.Gln993Lys) c.3037C>A (p.Gln1013Lys) n.7386C>A n.942C>A n.1141C>A c.3067C>A (p.Gln1023Lys) c.2980C>A (p.Gln994Lys) c.1939C>A (p.Gln647Lys) | |
17 | g.46031626T>A | CA8618354 | KANSL1 | c.3168A>T (p.Ala1056=) c.3165A>T (p.Ala1055=) c.2976A>T (p.Ala992=) c.3036A>T (p.Ala1012=) n.7385A>T n.941A>T n.1140A>T c.3066A>T (p.Ala1022=) c.2979A>T (p.Ala993=) c.1938A>T (p.Ala646=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031626T>C | CA500371694 | KANSL1 | c.3168A>G (p.Ala1056=) c.3165A>G (p.Ala1055=) c.2976A>G (p.Ala992=) c.3036A>G (p.Ala1012=) n.7385A>G n.941A>G n.1140A>G c.3066A>G (p.Ala1022=) c.2979A>G (p.Ala993=) c.1938A>G (p.Ala646=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031626T>G | CA500371695 | KANSL1 | c.3168A>C (p.Ala1056=) c.3165A>C (p.Ala1055=) c.2976A>C (p.Ala992=) c.3036A>C (p.Ala1012=) n.7385A>C n.941A>C n.1140A>C c.3066A>C (p.Ala1022=) c.2979A>C (p.Ala993=) c.1938A>C (p.Ala646=) | |
17 | g.46031626T= | CA2262110769 | KANSL1 | c.3168A= (p.Ala1056=) c.3165A= (p.Ala1055=) c.2976A= (p.Ala992=) c.3036A= (p.Ala1012=) n.7385A= n.941A= n.1140A= c.3066A= (p.Ala1022=) c.2979A= (p.Ala993=) c.1938A= (p.Ala646=) | |
17 | g.46031627G>A | CA399986026 | KANSL1 | c.3167C>T (p.Ala1056Val) c.3164C>T (p.Ala1055Val) c.2975C>T (p.Ala992Val) c.3035C>T (p.Ala1012Val) n.7384C>T n.940C>T n.1139C>T c.3065C>T (p.Ala1022Val) c.2978C>T (p.Ala993Val) c.1937C>T (p.Ala646Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031627G>C | CA399986025 | KANSL1 | c.3167C>G (p.Ala1056Gly) c.3164C>G (p.Ala1055Gly) c.2975C>G (p.Ala992Gly) c.3035C>G (p.Ala1012Gly) n.7384C>G n.940C>G n.1139C>G c.3065C>G (p.Ala1022Gly) c.2978C>G (p.Ala993Gly) c.1937C>G (p.Ala646Gly) | |
17 | g.46031627G= | CA2262110770 | KANSL1 | c.3167C= (p.Ala1056=) c.3164C= (p.Ala1055=) c.2975C= (p.Ala992=) c.3035C= (p.Ala1012=) n.7384C= n.940C= n.1139C= c.3065C= (p.Ala1022=) c.2978C= (p.Ala993=) c.1937C= (p.Ala646=) | |
17 | g.46031627G>T | CA399986027 | KANSL1 | c.3167C>A (p.Ala1056Glu) c.3164C>A (p.Ala1055Glu) c.2975C>A (p.Ala992Glu) c.3035C>A (p.Ala1012Glu) n.7384C>A n.940C>A n.1139C>A c.3065C>A (p.Ala1022Glu) c.2978C>A (p.Ala993Glu) c.1937C>A (p.Ala646Glu) | |
17 | g.46031628C>A | CA399986028 | KANSL1 | c.3166G>T (p.Ala1056Ser) c.3163G>T (p.Ala1055Ser) c.2974G>T (p.Ala992Ser) c.3034G>T (p.Ala1012Ser) n.7383G>T n.939G>T n.1138G>T c.3064G>T (p.Ala1022Ser) c.2977G>T (p.Ala993Ser) c.1936G>T (p.Ala646Ser) | |
17 | g.46031628C>G | CA399986029 | KANSL1 | c.3166G>C (p.Ala1056Pro) c.3163G>C (p.Ala1055Pro) c.2974G>C (p.Ala992Pro) c.3034G>C (p.Ala1012Pro) n.7383G>C n.939G>C n.1138G>C c.3064G>C (p.Ala1022Pro) c.2977G>C (p.Ala993Pro) c.1936G>C (p.Ala646Pro) | |
17 | g.46031628C>T | CA399986030 | KANSL1 | c.3166G>A (p.Ala1056Thr) c.3163G>A (p.Ala1055Thr) c.2974G>A (p.Ala992Thr) c.3034G>A (p.Ala1012Thr) n.7383G>A n.939G>A n.1138G>A c.3064G>A (p.Ala1022Thr) c.2977G>A (p.Ala993Thr) c.1936G>A (p.Ala646Thr) | gnomAD v4 |
17 | g.46031629A>C | CA399986031 | KANSL1 | c.3165T>G (p.Asp1055Glu) c.3162T>G (p.Asp1054Glu) c.2973T>G (p.Asp991Glu) c.3033T>G (p.Asp1011Glu) n.7382T>G n.938T>G n.1137T>G c.3063T>G (p.Asp1021Glu) c.2976T>G (p.Asp992Glu) c.1935T>G (p.Asp645Glu) | gnomAD v4 |
17 | g.46031629A>G | CA500371696 | KANSL1 | c.3165T>C (p.Asp1055=) c.3162T>C (p.Asp1054=) c.2973T>C (p.Asp991=) c.3033T>C (p.Asp1011=) n.7382T>C n.938T>C n.1137T>C c.3063T>C (p.Asp1021=) c.2976T>C (p.Asp992=) c.1935T>C (p.Asp645=) | gnomAD v4 |
17 | g.46031629A>T | CA399986032 | KANSL1 | c.3165T>A (p.Asp1055Glu) c.3162T>A (p.Asp1054Glu) c.2973T>A (p.Asp991Glu) c.3033T>A (p.Asp1011Glu) n.7382T>A n.938T>A n.1137T>A c.3063T>A (p.Asp1021Glu) c.2976T>A (p.Asp992Glu) c.1935T>A (p.Asp645Glu) | |
17 | g.46031630T>A | CA399986033 | KANSL1 | c.3164A>T (p.Asp1055Val) c.3161A>T (p.Asp1054Val) c.2972A>T (p.Asp991Val) c.3032A>T (p.Asp1011Val) n.7381A>T n.937A>T n.1136A>T c.3062A>T (p.Asp1021Val) c.2975A>T (p.Asp992Val) c.1934A>T (p.Asp645Val) | |
17 | g.46031630T>C | CA399986034 | KANSL1 | c.3164A>G (p.Asp1055Gly) c.3161A>G (p.Asp1054Gly) c.2972A>G (p.Asp991Gly) c.3032A>G (p.Asp1011Gly) n.7381A>G n.937A>G n.1136A>G c.3062A>G (p.Asp1021Gly) c.2975A>G (p.Asp992Gly) c.1934A>G (p.Asp645Gly) | ClinVar |
17 | g.46031630T>G | CA399986035 | KANSL1 | c.3164A>C (p.Asp1055Ala) c.3161A>C (p.Asp1054Ala) c.2972A>C (p.Asp991Ala) c.3032A>C (p.Asp1011Ala) n.7381A>C n.937A>C n.1136A>C c.3062A>C (p.Asp1021Ala) c.2975A>C (p.Asp992Ala) c.1934A>C (p.Asp645Ala) | |
17 | g.46031631C>A | CA291125382 | KANSL1 | c.3163G>T (p.Asp1055Tyr) c.3160G>T (p.Asp1054Tyr) c.2971G>T (p.Asp991Tyr) c.3031G>T (p.Asp1011Tyr) n.7380G>T n.936G>T n.1135G>T c.3061G>T (p.Asp1021Tyr) c.2974G>T (p.Asp992Tyr) c.1933G>T (p.Asp645Tyr) | dbSNP |
17 | g.46031631C= | CA2262110771 | KANSL1 | c.3163G= (p.Asp1055=) c.3160G= (p.Asp1054=) c.2971G= (p.Asp991=) c.3031G= (p.Asp1011=) n.7380G= n.936G= n.1135G= c.3061G= (p.Asp1021=) c.2974G= (p.Asp992=) c.1933G= (p.Asp645=) | |
17 | g.46031631C>G | CA399986036 | KANSL1 | c.3163G>C (p.Asp1055His) c.3160G>C (p.Asp1054His) c.2971G>C (p.Asp991His) c.3031G>C (p.Asp1011His) n.7380G>C n.936G>C n.1135G>C c.3061G>C (p.Asp1021His) c.2974G>C (p.Asp992His) c.1933G>C (p.Asp645His) | |
17 | g.46031631C>T | CA399986037 | KANSL1 | c.3163G>A (p.Asp1055Asn) c.3160G>A (p.Asp1054Asn) c.2971G>A (p.Asp991Asn) c.3031G>A (p.Asp1011Asn) n.7380G>A n.936G>A n.1135G>A c.3061G>A (p.Asp1021Asn) c.2974G>A (p.Asp992Asn) c.1933G>A (p.Asp645Asn) |