| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46032242_46032271del | CA2638372368 | KANSL1 | c.2876_2905del (p.Leu959_Gln968del) c.2873_2902del (p.Leu958_Gln967del) c.2684_2713del (p.Leu895_Gln904del) n.704_733del n.824_853del c.533_562del (p.Leu178_Gln187del) n.293_322del c.2838-94_2838-65del (n.2838-94_2838-65del) n.7093_7122del n.262_291del n.306_335del n.848_877del c.2774_2803del (p.Leu925_Gln934del) c.2687_2716del (p.Leu896_Gln905del) c.1646_1675del (p.Leu549_Gln558del) | gnomAD v4 |
| 17 | g.46032240dup | CA915950167 | KANSL1 | c.2902dup (p.Gln968ProfsTer6) c.2899dup (p.Gln967ProfsTer6) c.2710dup (p.Gln904ProfsTer6) n.730dup n.850dup c.559dup (p.Gln187ProfsTer6) n.319dup c.2838-68dup (n.2838-68dup) n.7119dup n.288dup n.332dup n.874dup c.2800dup (p.Gln934ProfsTer6) c.2713dup (p.Gln905ProfsTer6) c.1672dup (p.Gln558ProfsTer6) | ClinVar dbSNP |
| 17 | g.46032240del | CA626333360 | KANSL1 | c.2902del (p.Gln968SerfsTer?) c.2899del (p.Gln967SerfsTer?) c.2710del (p.Gln904SerfsTer?) n.730del n.850del c.559del (p.Gln187SerfsTer?) n.319del c.2838-68del (n.2838-68del) n.7119del n.288del n.332del n.874del c.2800del (p.Gln934SerfsTer?) c.2713del (p.Gln905SerfsTer?) c.1672del (p.Gln558SerfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.46032240G>A | CA8618422 | KANSL1 | c.2897C>T (p.Thr966Ile) c.2894C>T (p.Thr965Ile) c.2705C>T (p.Thr902Ile) n.725C>T n.845C>T c.554C>T (p.Thr185Ile) n.314C>T c.2838-73C>T (n.2838-73C>T) n.7114C>T n.283C>T n.327C>T n.869C>T c.2795C>T (p.Thr932Ile) c.2708C>T (p.Thr903Ile) c.1667C>T (p.Thr556Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.46032240G>C | CA399987223 | KANSL1 | c.2897C>G (p.Thr966Ser) c.2894C>G (p.Thr965Ser) c.2705C>G (p.Thr902Ser) n.725C>G n.845C>G c.554C>G (p.Thr185Ser) n.314C>G c.2838-73C>G (n.2838-73C>G) n.7114C>G n.283C>G n.327C>G n.869C>G c.2795C>G (p.Thr932Ser) c.2708C>G (p.Thr903Ser) c.1667C>G (p.Thr556Ser) | |
| 17 | g.46032240G= | CA2262111061 | KANSL1 | c.2897C= (p.Thr966=) c.2894C= (p.Thr965=) c.2705C= (p.Thr902=) n.725C= n.845C= c.554C= (p.Thr185=) n.314C= c.2838-73C= (n.2838-73C=) n.7114C= n.283C= n.327C= n.869C= c.2795C= (p.Thr932=) c.2708C= (p.Thr903=) c.1667C= (p.Thr556=) | |
| 17 | g.46032240G>T | CA399987224 | KANSL1 | c.2897C>A (p.Thr966Asn) c.2894C>A (p.Thr965Asn) c.2705C>A (p.Thr902Asn) n.725C>A n.845C>A c.554C>A (p.Thr185Asn) n.314C>A c.2838-73C>A (n.2838-73C>A) n.7114C>A n.283C>A n.327C>A n.869C>A c.2795C>A (p.Thr932Asn) c.2708C>A (p.Thr903Asn) c.1667C>A (p.Thr556Asn) | dbSNP gnomAD v4 |
| 17 | g.46032241T>A | CA399987228 | KANSL1 | c.2896A>T (p.Thr966Ser) c.2893A>T (p.Thr965Ser) c.2704A>T (p.Thr902Ser) n.724A>T n.844A>T c.553A>T (p.Thr185Ser) n.313A>T c.2838-74A>T (n.2838-74A>T) n.7113A>T n.282A>T n.326A>T n.868A>T c.2794A>T (p.Thr932Ser) c.2707A>T (p.Thr903Ser) c.1666A>T (p.Thr556Ser) | |
| 17 | g.46032241T>C | CA399987230 | KANSL1 | c.2896A>G (p.Thr966Ala) c.2893A>G (p.Thr965Ala) c.2704A>G (p.Thr902Ala) n.724A>G n.844A>G c.553A>G (p.Thr185Ala) n.313A>G c.2838-74A>G (n.2838-74A>G) n.7113A>G n.282A>G n.326A>G n.868A>G c.2794A>G (p.Thr932Ala) c.2707A>G (p.Thr903Ala) c.1666A>G (p.Thr556Ala) | |
| 17 | g.46032241T>G | CA8618423 | KANSL1 | c.2896A>C (p.Thr966Pro) c.2893A>C (p.Thr965Pro) c.2704A>C (p.Thr902Pro) n.724A>C n.844A>C c.553A>C (p.Thr185Pro) n.313A>C c.2838-74A>C (n.2838-74A>C) n.7113A>C n.282A>C n.326A>C n.868A>C c.2794A>C (p.Thr932Pro) c.2707A>C (p.Thr903Pro) c.1666A>C (p.Thr556Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.46032241T= | CA2262111062 | KANSL1 | c.2896A= (p.Thr966=) c.2893A= (p.Thr965=) c.2704A= (p.Thr902=) n.724A= n.844A= c.553A= (p.Thr185=) n.313A= c.2838-74A= (n.2838-74A=) n.7113A= n.282A= n.326A= n.868A= c.2794A= (p.Thr932=) c.2707A= (p.Thr903=) c.1666A= (p.Thr556=) | |
| 17 | g.46032241_46032264dup | CA645596184 | KANSL1 | c.2873_2896dup (p.Ser965_Thr966insLysLeuGlySerAlaAsnProSer) c.2870_2893dup (p.Ser964_Thr965insLysLeuGlySerAlaAsnProSer) c.2681_2704dup (p.Ser901_Thr902insLysLeuGlySerAlaAsnProSer) n.701_724dup n.821_844dup c.530_553dup (p.Ser184_Thr185insLysLeuGlySerAlaAsnProSer) n.290_313dup c.2838-97_2838-74dup (n.2838-97_2838-74dup) n.7090_7113dup n.259_282dup n.303_326dup n.845_868dup c.2771_2794dup (p.Ser931_Thr932insLysLeuGlySerAlaAsnProSer) c.2684_2707dup (p.Ser902_Thr903insLysLeuGlySerAlaAsnProSer) c.1643_1666dup (p.Ser555_Thr556insLysLeuGlySerAlaAsnProSer) | COSMIC |
| 17 | g.46032242G>A | CA500372045 | KANSL1 | c.2895C>T (p.Ser965=) c.2892C>T (p.Ser964=) c.2703C>T (p.Ser901=) n.723C>T n.843C>T c.552C>T (p.Ser184=) n.312C>T c.2838-75C>T (n.2838-75C>T) n.7112C>T n.281C>T n.325C>T n.867C>T c.2793C>T (p.Ser931=) c.2706C>T (p.Ser902=) c.1665C>T (p.Ser555=) | |
| 17 | g.46032242G>C | CA500372046 | KANSL1 | c.2895C>G (p.Ser965=) c.2892C>G (p.Ser964=) c.2703C>G (p.Ser901=) n.723C>G n.843C>G c.552C>G (p.Ser184=) n.312C>G c.2838-75C>G (n.2838-75C>G) n.7112C>G n.281C>G n.325C>G n.867C>G c.2793C>G (p.Ser931=) c.2706C>G (p.Ser902=) c.1665C>G (p.Ser555=) | |
| 17 | g.46032242G>T | CA500372047 | KANSL1 | c.2895C>A (p.Ser965=) c.2892C>A (p.Ser964=) c.2703C>A (p.Ser901=) n.723C>A n.843C>A c.552C>A (p.Ser184=) n.312C>A c.2838-75C>A (n.2838-75C>A) n.7112C>A n.281C>A n.325C>A n.867C>A c.2793C>A (p.Ser931=) c.2706C>A (p.Ser902=) c.1665C>A (p.Ser555=) | |
| 17 | g.46032243G>A | CA399987232 | KANSL1 | c.2894C>T (p.Ser965Phe) c.2891C>T (p.Ser964Phe) c.2702C>T (p.Ser901Phe) n.722C>T n.842C>T c.551C>T (p.Ser184Phe) n.311C>T c.2838-76C>T (n.2838-76C>T) n.7111C>T n.280C>T n.324C>T n.866C>T c.2792C>T (p.Ser931Phe) c.2705C>T (p.Ser902Phe) c.1664C>T (p.Ser555Phe) | gnomAD v4 |
| 17 | g.46032243G>C | CA399987233 | KANSL1 | c.2894C>G (p.Ser965Cys) c.2891C>G (p.Ser964Cys) c.2702C>G (p.Ser901Cys) n.722C>G n.842C>G c.551C>G (p.Ser184Cys) n.311C>G c.2838-76C>G (n.2838-76C>G) n.7111C>G n.280C>G n.324C>G n.866C>G c.2792C>G (p.Ser931Cys) c.2705C>G (p.Ser902Cys) c.1664C>G (p.Ser555Cys) | ClinVar |
| 17 | g.46032243G>T | CA399987235 | KANSL1 | c.2894C>A (p.Ser965Tyr) c.2891C>A (p.Ser964Tyr) c.2702C>A (p.Ser901Tyr) n.722C>A n.842C>A c.551C>A (p.Ser184Tyr) n.311C>A c.2838-76C>A (n.2838-76C>A) n.7111C>A n.280C>A n.324C>A n.866C>A c.2792C>A (p.Ser931Tyr) c.2705C>A (p.Ser902Tyr) c.1664C>A (p.Ser555Tyr) | |
| 17 | g.46032244A= | CA2262111063 | KANSL1 | c.2893T= (p.Ser965=) c.2890T= (p.Ser964=) c.2701T= (p.Ser901=) n.721T= n.841T= c.550T= (p.Ser184=) n.310T= c.2838-77T= (n.2838-77T=) n.7110T= n.279T= n.323T= n.865T= c.2791T= (p.Ser931=) c.2704T= (p.Ser902=) c.1663T= (p.Ser555=) | |
| 17 | g.46032244A>C | CA399987237 | KANSL1 | c.2893T>G (p.Ser965Ala) c.2890T>G (p.Ser964Ala) c.2701T>G (p.Ser901Ala) n.721T>G n.841T>G c.550T>G (p.Ser184Ala) n.310T>G c.2838-77T>G (n.2838-77T>G) n.7110T>G n.279T>G n.323T>G n.865T>G c.2791T>G (p.Ser931Ala) c.2704T>G (p.Ser902Ala) c.1663T>G (p.Ser555Ala) | |
| 17 | g.46032244A>G | CA399987239 | KANSL1 | c.2893T>C (p.Ser965Pro) c.2890T>C (p.Ser964Pro) c.2701T>C (p.Ser901Pro) n.721T>C n.841T>C c.550T>C (p.Ser184Pro) n.310T>C c.2838-77T>C (n.2838-77T>C) n.7110T>C n.279T>C n.323T>C n.865T>C c.2791T>C (p.Ser931Pro) c.2704T>C (p.Ser902Pro) c.1663T>C (p.Ser555Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.46032244A>T | CA399987241 | KANSL1 | c.2893T>A (p.Ser965Thr) c.2890T>A (p.Ser964Thr) c.2701T>A (p.Ser901Thr) n.721T>A n.841T>A c.550T>A (p.Ser184Thr) n.310T>A c.2838-77T>A (n.2838-77T>A) n.7110T>A n.279T>A n.323T>A n.865T>A c.2791T>A (p.Ser931Thr) c.2704T>A (p.Ser902Thr) c.1663T>A (p.Ser555Thr) | |
| 17 | g.46032245G>A | CA500372049 | KANSL1 | c.2892C>T (p.Pro964=) c.2889C>T (p.Pro963=) c.2700C>T (p.Pro900=) n.720C>T n.840C>T c.549C>T (p.Pro183=) n.309C>T c.2838-78C>T (n.2838-78C>T) n.7109C>T n.278C>T n.322C>T n.864C>T c.2790C>T (p.Pro930=) c.2703C>T (p.Pro901=) c.1662C>T (p.Pro554=) | gnomAD v4 |
| 17 | g.46032245G>C | CA500372050 | KANSL1 | c.2892C>G (p.Pro964=) c.2889C>G (p.Pro963=) c.2700C>G (p.Pro900=) n.720C>G n.840C>G c.549C>G (p.Pro183=) n.309C>G c.2838-78C>G (n.2838-78C>G) n.7109C>G n.278C>G n.322C>G n.864C>G c.2790C>G (p.Pro930=) c.2703C>G (p.Pro901=) c.1662C>G (p.Pro554=) | gnomAD v4 |
| 17 | g.46032245G>T | CA500372048 | KANSL1 | c.2892C>A (p.Pro964=) c.2889C>A (p.Pro963=) c.2700C>A (p.Pro900=) n.720C>A n.840C>A c.549C>A (p.Pro183=) n.309C>A c.2838-78C>A (n.2838-78C>A) n.7109C>A n.278C>A n.322C>A n.864C>A c.2790C>A (p.Pro930=) c.2703C>A (p.Pro901=) c.1662C>A (p.Pro554=) | |
| 17 | g.46032246G>A | CA399987243 | KANSL1 | c.2891C>T (p.Pro964Leu) c.2888C>T (p.Pro963Leu) c.2699C>T (p.Pro900Leu) n.719C>T n.839C>T c.548C>T (p.Pro183Leu) n.308C>T c.2838-79C>T (n.2838-79C>T) n.7108C>T n.277C>T n.321C>T n.863C>T c.2789C>T (p.Pro930Leu) c.2702C>T (p.Pro901Leu) c.1661C>T (p.Pro554Leu) | gnomAD v4 COSMIC |
| 17 | g.46032246G>C | CA399987245 | KANSL1 | c.2891C>G (p.Pro964Arg) c.2888C>G (p.Pro963Arg) c.2699C>G (p.Pro900Arg) n.719C>G n.839C>G c.548C>G (p.Pro183Arg) n.308C>G c.2838-79C>G (n.2838-79C>G) n.7108C>G n.277C>G n.321C>G n.863C>G c.2789C>G (p.Pro930Arg) c.2702C>G (p.Pro901Arg) c.1661C>G (p.Pro554Arg) | |
| 17 | g.46032246G>T | CA399987248 | KANSL1 | c.2891C>A (p.Pro964His) c.2888C>A (p.Pro963His) c.2699C>A (p.Pro900His) n.719C>A n.839C>A c.548C>A (p.Pro183His) n.308C>A c.2838-79C>A (n.2838-79C>A) n.7108C>A n.277C>A n.321C>A n.863C>A c.2789C>A (p.Pro930His) c.2702C>A (p.Pro901His) c.1661C>A (p.Pro554His) | |
| 17 | g.46032247G>A | CA399987250 | KANSL1 | c.2890C>T (p.Pro964Ser) c.2887C>T (p.Pro963Ser) c.2698C>T (p.Pro900Ser) n.718C>T n.838C>T c.547C>T (p.Pro183Ser) n.307C>T c.2838-80C>T (n.2838-80C>T) n.7107C>T n.276C>T n.320C>T n.862C>T c.2788C>T (p.Pro930Ser) c.2701C>T (p.Pro901Ser) c.1660C>T (p.Pro554Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.46032247G>C | CA399987253 | KANSL1 | c.2890C>G (p.Pro964Ala) c.2887C>G (p.Pro963Ala) c.2698C>G (p.Pro900Ala) n.718C>G n.838C>G c.547C>G (p.Pro183Ala) n.307C>G c.2838-80C>G (n.2838-80C>G) n.7107C>G n.276C>G n.320C>G n.862C>G c.2788C>G (p.Pro930Ala) c.2701C>G (p.Pro901Ala) c.1660C>G (p.Pro554Ala) | |
| 17 | g.46032247G= | CA2262111064 | KANSL1 | c.2890C= (p.Pro964=) c.2887C= (p.Pro963=) c.2698C= (p.Pro900=) n.718C= n.838C= c.547C= (p.Pro183=) n.307C= c.2838-80C= (n.2838-80C=) n.7107C= n.276C= n.320C= n.862C= c.2788C= (p.Pro930=) c.2701C= (p.Pro901=) c.1660C= (p.Pro554=) | |
| 17 | g.46032247G>T | CA399987254 | KANSL1 | c.2890C>A (p.Pro964Thr) c.2887C>A (p.Pro963Thr) c.2698C>A (p.Pro900Thr) n.718C>A n.838C>A c.547C>A (p.Pro183Thr) n.307C>A c.2838-80C>A (n.2838-80C>A) n.7107C>A n.276C>A n.320C>A n.862C>A c.2788C>A (p.Pro930Thr) c.2701C>A (p.Pro901Thr) c.1660C>A (p.Pro554Thr) | |
| 17 | g.46032248G>A | CA500372051 | KANSL1 | c.2889C>T (p.Asn963=) c.2886C>T (p.Asn962=) c.2697C>T (p.Asn899=) n.717C>T n.837C>T c.546C>T (p.Asn182=) n.306C>T c.2838-81C>T (n.2838-81C>T) n.7106C>T n.275C>T n.319C>T n.861C>T c.2787C>T (p.Asn929=) c.2700C>T (p.Asn900=) c.1659C>T (p.Asn553=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.46032248G>C | CA399987257 | KANSL1 | c.2889C>G (p.Asn963Lys) c.2886C>G (p.Asn962Lys) c.2697C>G (p.Asn899Lys) n.717C>G n.837C>G c.546C>G (p.Asn182Lys) n.306C>G c.2838-81C>G (n.2838-81C>G) n.7106C>G n.275C>G n.319C>G n.861C>G c.2787C>G (p.Asn929Lys) c.2700C>G (p.Asn900Lys) c.1659C>G (p.Asn553Lys) | ClinVar |
| 17 | g.46032248G= | CA2262111065 | KANSL1 | c.2889C= (p.Asn963=) c.2886C= (p.Asn962=) c.2697C= (p.Asn899=) n.717C= n.837C= c.546C= (p.Asn182=) n.306C= c.2838-81C= (n.2838-81C=) n.7106C= n.275C= n.319C= n.861C= c.2787C= (p.Asn929=) c.2700C= (p.Asn900=) c.1659C= (p.Asn553=) | |
| 17 | g.46032248G>T | CA399987256 | KANSL1 | c.2889C>A (p.Asn963Lys) c.2886C>A (p.Asn962Lys) c.2697C>A (p.Asn899Lys) n.717C>A n.837C>A c.546C>A (p.Asn182Lys) n.306C>A c.2838-81C>A (n.2838-81C>A) n.7106C>A n.275C>A n.319C>A n.861C>A c.2787C>A (p.Asn929Lys) c.2700C>A (p.Asn900Lys) c.1659C>A (p.Asn553Lys) | gnomAD v4 |
| 17 | g.46032249T>A | CA399987259 | KANSL1 | c.2888A>T (p.Asn963Ile) c.2885A>T (p.Asn962Ile) c.2696A>T (p.Asn899Ile) n.716A>T n.836A>T c.545A>T (p.Asn182Ile) n.305A>T c.2838-82A>T (n.2838-82A>T) n.7105A>T n.274A>T n.318A>T n.860A>T c.2786A>T (p.Asn929Ile) c.2699A>T (p.Asn900Ile) c.1658A>T (p.Asn553Ile) | |
| 17 | g.46032249T>C | CA399987260 | KANSL1 | c.2888A>G (p.Asn963Ser) c.2885A>G (p.Asn962Ser) c.2696A>G (p.Asn899Ser) n.716A>G n.836A>G c.545A>G (p.Asn182Ser) n.305A>G c.2838-82A>G (n.2838-82A>G) n.7105A>G n.274A>G n.318A>G n.860A>G c.2786A>G (p.Asn929Ser) c.2699A>G (p.Asn900Ser) c.1658A>G (p.Asn553Ser) | |
| 17 | g.46032249T>G | CA399987261 | KANSL1 | c.2888A>C (p.Asn963Thr) c.2885A>C (p.Asn962Thr) c.2696A>C (p.Asn899Thr) n.716A>C n.836A>C c.545A>C (p.Asn182Thr) n.305A>C c.2838-82A>C (n.2838-82A>C) n.7105A>C n.274A>C n.318A>C n.860A>C c.2786A>C (p.Asn929Thr) c.2699A>C (p.Asn900Thr) c.1658A>C (p.Asn553Thr) | |
| 17 | g.46032250T>A | CA399987263 | KANSL1 | c.2887A>T (p.Asn963Tyr) c.2884A>T (p.Asn962Tyr) c.2695A>T (p.Asn899Tyr) n.715A>T n.835A>T c.544A>T (p.Asn182Tyr) n.304A>T c.2838-83A>T (n.2838-83A>T) n.7104A>T n.273A>T n.317A>T n.859A>T c.2785A>T (p.Asn929Tyr) c.2698A>T (p.Asn900Tyr) c.1657A>T (p.Asn553Tyr) | |
| 17 | g.46032250T>C | CA399987265 | KANSL1 | c.2887A>G (p.Asn963Asp) c.2884A>G (p.Asn962Asp) c.2695A>G (p.Asn899Asp) n.715A>G n.835A>G c.544A>G (p.Asn182Asp) n.304A>G c.2838-83A>G (n.2838-83A>G) n.7104A>G n.273A>G n.317A>G n.859A>G c.2785A>G (p.Asn929Asp) c.2698A>G (p.Asn900Asp) c.1657A>G (p.Asn553Asp) | |
| 17 | g.46032250T>G | CA399987267 | KANSL1 | c.2887A>C (p.Asn963His) c.2884A>C (p.Asn962His) c.2695A>C (p.Asn899His) n.715A>C n.835A>C c.544A>C (p.Asn182His) n.304A>C c.2838-83A>C (n.2838-83A>C) n.7104A>C n.273A>C n.317A>C n.859A>C c.2785A>C (p.Asn929His) c.2698A>C (p.Asn900His) c.1657A>C (p.Asn553His) | |
| 17 | g.46032251G>A | CA500372053 | KANSL1 | c.2886C>T (p.Ala962=) c.2883C>T (p.Ala961=) c.2694C>T (p.Ala898=) n.714C>T n.834C>T c.543C>T (p.Ala181=) n.303C>T c.2838-84C>T (n.2838-84C>T) n.7103C>T n.272C>T n.316C>T n.858C>T c.2784C>T (p.Ala928=) c.2697C>T (p.Ala899=) c.1656C>T (p.Ala552=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.46032251G>C | CA500372052 | KANSL1 | c.2886C>G (p.Ala962=) c.2883C>G (p.Ala961=) c.2694C>G (p.Ala898=) n.714C>G n.834C>G c.543C>G (p.Ala181=) n.303C>G c.2838-84C>G (n.2838-84C>G) n.7103C>G n.272C>G n.316C>G n.858C>G c.2784C>G (p.Ala928=) c.2697C>G (p.Ala899=) c.1656C>G (p.Ala552=) | |
| 17 | g.46032251G= | CA2262111066 | KANSL1 | c.2886C= (p.Ala962=) c.2883C= (p.Ala961=) c.2694C= (p.Ala898=) n.714C= n.834C= c.543C= (p.Ala181=) n.303C= c.2838-84C= (n.2838-84C=) n.7103C= n.272C= n.316C= n.858C= c.2784C= (p.Ala928=) c.2697C= (p.Ala899=) c.1656C= (p.Ala552=) | |
| 17 | g.46032251G>T | CA291125983 | KANSL1 | c.2886C>A (p.Ala962=) c.2883C>A (p.Ala961=) c.2694C>A (p.Ala898=) n.714C>A n.834C>A c.543C>A (p.Ala181=) n.303C>A c.2838-84C>A (n.2838-84C>A) n.7103C>A n.272C>A n.316C>A n.858C>A c.2784C>A (p.Ala928=) c.2697C>A (p.Ala899=) c.1656C>A (p.Ala552=) | dbSNP gnomAD v4 |
| 17 | g.46032252G>A | CA8618424 | KANSL1 | c.2885C>T (p.Ala962Val) c.2882C>T (p.Ala961Val) c.2693C>T (p.Ala898Val) n.713C>T n.833C>T c.542C>T (p.Ala181Val) n.302C>T c.2838-85C>T (n.2838-85C>T) n.7102C>T n.271C>T n.315C>T n.857C>T c.2783C>T (p.Ala928Val) c.2696C>T (p.Ala899Val) c.1655C>T (p.Ala552Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.46032252G>C | CA399987271 | KANSL1 | c.2885C>G (p.Ala962Gly) c.2882C>G (p.Ala961Gly) c.2693C>G (p.Ala898Gly) n.713C>G n.833C>G c.542C>G (p.Ala181Gly) n.302C>G c.2838-85C>G (n.2838-85C>G) n.7102C>G n.271C>G n.315C>G n.857C>G c.2783C>G (p.Ala928Gly) c.2696C>G (p.Ala899Gly) c.1655C>G (p.Ala552Gly) | |
| 17 | g.46032252G= | CA2262111067 | KANSL1 | c.2885C= (p.Ala962=) c.2882C= (p.Ala961=) c.2693C= (p.Ala898=) n.713C= n.833C= c.542C= (p.Ala181=) n.302C= c.2838-85C= (n.2838-85C=) n.7102C= n.271C= n.315C= n.857C= c.2783C= (p.Ala928=) c.2696C= (p.Ala899=) c.1655C= (p.Ala552=) | |
| 17 | g.46032252G>T | CA399987272 | KANSL1 | c.2885C>A (p.Ala962Asp) c.2882C>A (p.Ala961Asp) c.2693C>A (p.Ala898Asp) n.713C>A n.833C>A c.542C>A (p.Ala181Asp) n.302C>A c.2838-85C>A (n.2838-85C>A) n.7102C>A n.271C>A n.315C>A n.857C>A c.2783C>A (p.Ala928Asp) c.2696C>A (p.Ala899Asp) c.1655C>A (p.Ala552Asp) |