Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.57568949T>C | CA2619471586 | KIF5A | c.715-14T>C (n.715-14T>C) c.610-14T>C (n.610-14T>C) c.448-14T>C (n.448-14T>C) n.948-14T>C | gnomAD v4 |
12 | g.57568950A>G | CA2619471588 | KIF5A | c.715-13A>G (n.715-13A>G) c.610-13A>G (n.610-13A>G) c.448-13A>G (n.448-13A>G) n.948-13A>G | gnomAD v4 |
12 | g.57568950A>T | CA2619471591 | KIF5A | c.715-13A>T (n.715-13A>T) c.610-13A>T (n.610-13A>T) c.448-13A>T (n.448-13A>T) n.948-13A>T | gnomAD v4 |
12 | g.57568951C>A | CA2619471597 | KIF5A | c.715-12C>A (n.715-12C>A) c.610-12C>A (n.610-12C>A) c.448-12C>A (n.448-12C>A) n.948-12C>A | gnomAD v4 |
12 | g.57568952T>G | CA2573148855 | KIF5A | c.715-11T>G (n.715-11T>G) c.610-11T>G (n.610-11T>G) c.448-11T>G (n.448-11T>G) n.948-11T>G | ClinVar dbSNP |
12 | g.57568953G>T | CA2619471601 | KIF5A | c.715-10G>T (n.715-10G>T) c.610-10G>T (n.610-10G>T) c.448-10G>T (n.448-10G>T) n.948-10G>T | gnomAD v4 |
12 | g.57568954C>A | CA1139662758 | KIF5A | c.715-9C>A (n.715-9C>A) c.610-9C>A (n.610-9C>A) c.448-9C>A (n.448-9C>A) n.948-9C>A | ClinVar dbSNP gnomAD v4 |
12 | g.57568954C= | CA2038924839 | KIF5A | c.715-9C= (n.715-9C=) c.610-9C= (n.610-9C=) c.448-9C= (n.448-9C=) n.948-9C= | |
12 | g.57568954C>T | CA2619471608 | KIF5A | c.715-9C>T (n.715-9C>T) c.610-9C>T (n.610-9C>T) c.448-9C>T (n.448-9C>T) n.948-9C>T | gnomAD v4 |
12 | g.57568955C>A | CA2575203738 | KIF5A | c.715-8C>A (n.715-8C>A) c.610-8C>A (n.610-8C>A) c.448-8C>A (n.448-8C>A) n.948-8C>A | gnomAD v4 |
12 | g.57568955C>G | CA2619471610 | KIF5A | c.715-8C>G (n.715-8C>G) c.610-8C>G (n.610-8C>G) c.448-8C>G (n.448-8C>G) n.948-8C>G | gnomAD v4 |
12 | g.57568956C>G | CA2575203739 | KIF5A | c.715-7C>G (n.715-7C>G) c.610-7C>G (n.610-7C>G) c.448-7C>G (n.448-7C>G) n.948-7C>G | |
12 | g.57568956C>T | CA2619471616 | KIF5A | c.715-7C>T (n.715-7C>T) c.610-7C>T (n.610-7C>T) c.448-7C>T (n.448-7C>T) n.948-7C>T | gnomAD v4 |
12 | g.57568957T>A | CA2619471641 | KIF5A | c.715-6T>A (n.715-6T>A) c.610-6T>A (n.610-6T>A) c.448-6T>A (n.448-6T>A) n.948-6T>A | gnomAD v4 |
12 | g.57568958G>A | CA2619471645 | KIF5A | c.715-5G>A (n.715-5G>A) c.610-5G>A (n.610-5G>A) c.448-5G>A (n.448-5G>A) n.948-5G>A | gnomAD v4 |
12 | g.57568959G>A | CA2619471647 | KIF5A | c.715-4G>A (n.715-4G>A) c.610-4G>A (n.610-4G>A) c.448-4G>A (n.448-4G>A) n.948-4G>A | gnomAD v4 |
12 | g.57568959G>C | CA2038924844 | KIF5A | c.715-4G>C (n.715-4G>C) c.610-4G>C (n.610-4G>C) c.448-4G>C (n.448-4G>C) n.948-4G>C | dbSNP gnomAD v4 |
12 | g.57568959G= | CA2038924842 | KIF5A | c.715-4G= (n.715-4G=) c.610-4G= (n.610-4G=) c.448-4G= (n.448-4G=) n.948-4G= | |
12 | g.57568961A>C | CA385499763 | KIF5A | c.715-2A>C (n.715-2A>C) c.610-2A>C (n.610-2A>C) c.448-2A>C (n.448-2A>C) n.948-2A>C | |
12 | g.57568961A>G | CA385499758 | KIF5A | c.715-2A>G (n.715-2A>G) c.610-2A>G (n.610-2A>G) c.448-2A>G (n.448-2A>G) n.948-2A>G | |
12 | g.57568961A>T | CA385499761 | KIF5A | c.715-2A>T (n.715-2A>T) c.610-2A>T (n.610-2A>T) c.448-2A>T (n.448-2A>T) n.948-2A>T | |
12 | g.57568962G>A | CA385499766 | KIF5A | c.715-1G>A (n.715-1G>A) c.610-1G>A (n.610-1G>A) c.448-1G>A (n.448-1G>A) n.948-1G>A | |
12 | g.57568962G>C | CA385499768 | KIF5A | c.715-1G>C (n.715-1G>C) c.610-1G>C (n.610-1G>C) c.448-1G>C (n.448-1G>C) n.948-1G>C | |
12 | g.57568962G>T | CA385499769 | KIF5A | c.715-1G>T (n.715-1G>T) c.610-1G>T (n.610-1G>T) c.448-1G>T (n.448-1G>T) n.948-1G>T | gnomAD v4 COSMIC |
12 | g.57568963G>A | CA385499776 | KIF5A | c.715G>A (p.Val239Ile) c.610G>A (p.Val204Ile) c.448G>A (p.Val150Ile) n.948G>A | |
12 | g.57568963G>C | CA385499774 | KIF5A | c.715G>C (p.Val239Leu) c.610G>C (p.Val204Leu) c.448G>C (p.Val150Leu) n.948G>C | |
12 | g.57568963G>T | CA385499773 | KIF5A | c.715G>T (p.Val239Phe) c.610G>T (p.Val204Phe) c.448G>T (p.Val150Phe) n.948G>T | |
12 | g.57568964T>A | CA385499778 | KIF5A | c.716T>A (p.Val239Asp) c.611T>A (p.Val204Asp) c.449T>A (p.Val150Asp) n.949T>A | |
12 | g.57568964T>C | CA385499780 | KIF5A | c.716T>C (p.Val239Ala) c.611T>C (p.Val204Ala) c.449T>C (p.Val150Ala) n.949T>C | gnomAD v4 |
12 | g.57568964T>G | CA385499783 | KIF5A | c.716T>G (p.Val239Gly) c.611T>G (p.Val204Gly) c.449T>G (p.Val150Gly) n.949T>G | |
12 | g.57568965C>A | CA480263890 | KIF5A | c.717C>A (p.Val239=) c.612C>A (p.Val204=) c.450C>A (p.Val150=) n.950C>A | |
12 | g.57568965C>G | CA480263891 | KIF5A | c.717C>G (p.Val239=) c.612C>G (p.Val204=) c.450C>G (p.Val150=) n.950C>G | |
12 | g.57568965C>T | CA480263892 | KIF5A | c.717C>T (p.Val239=) c.612C>T (p.Val204=) c.450C>T (p.Val150=) n.950C>T | gnomAD v4 |
12 | g.57568966A>C | CA385499785 | KIF5A | c.718A>C (p.Ser240Arg) c.613A>C (p.Ser205Arg) c.451A>C (p.Ser151Arg) n.951A>C | |
12 | g.57568966A>G | CA385499787 | KIF5A | c.718A>G (p.Ser240Gly) c.613A>G (p.Ser205Gly) c.451A>G (p.Ser151Gly) n.951A>G | |
12 | g.57568966A>T | CA385499789 | KIF5A | c.718A>T (p.Ser240Cys) c.613A>T (p.Ser205Cys) c.451A>T (p.Ser151Cys) n.951A>T | |
12 | g.57568967G>A | CA385499796 | KIF5A | c.719G>A (p.Ser240Asn) c.614G>A (p.Ser205Asn) c.452G>A (p.Ser151Asn) n.952G>A | |
12 | g.57568967G>C | CA385499793 | KIF5A | c.719G>C (p.Ser240Thr) c.614G>C (p.Ser205Thr) c.452G>C (p.Ser151Thr) n.952G>C | |
12 | g.57568967G>T | CA385499795 | KIF5A | c.719G>T (p.Ser240Ile) c.614G>T (p.Ser205Ile) c.452G>T (p.Ser151Ile) n.952G>T | ClinVar dbSNP |
12 | g.57568968C>A | CA385499798 | KIF5A | c.720C>A (p.Ser240Arg) c.615C>A (p.Ser205Arg) c.453C>A (p.Ser151Arg) n.953C>A | |
12 | g.57568968C>G | CA385499800 | KIF5A | c.720C>G (p.Ser240Arg) c.615C>G (p.Ser205Arg) c.453C>G (p.Ser151Arg) n.953C>G | |
12 | g.57568968C>T | CA480263893 | KIF5A | c.720C>T (p.Ser240=) c.615C>T (p.Ser205=) c.453C>T (p.Ser151=) n.953C>T | gnomAD v4 |
12 | g.57568969A>C | CA385499804 | KIF5A | c.721A>C (p.Lys241Gln) c.616A>C (p.Lys206Gln) c.454A>C (p.Lys152Gln) n.954A>C | |
12 | g.57568969A>G | CA385499806 | KIF5A | c.721A>G (p.Lys241Glu) c.616A>G (p.Lys206Glu) c.454A>G (p.Lys152Glu) n.954A>G | |
12 | g.57568969A>T | CA385499807 | KIF5A | c.721A>T (p.Lys241Ter) c.616A>T (p.Lys206Ter) c.454A>T (p.Lys152Ter) n.954A>T | |
12 | g.57568970A>C | CA385499810 | KIF5A | c.722A>C (p.Lys241Thr) c.617A>C (p.Lys206Thr) c.455A>C (p.Lys152Thr) n.955A>C | |
12 | g.57568970A>G | CA385499813 | KIF5A | c.722A>G (p.Lys241Arg) c.617A>G (p.Lys206Arg) c.455A>G (p.Lys152Arg) n.955A>G | ClinVar dbSNP |
12 | g.57568970A>T | CA385499815 | KIF5A | c.722A>T (p.Lys241Met) c.617A>T (p.Lys206Met) c.455A>T (p.Lys152Met) n.955A>T | |
12 | g.57568971G>A | CA480263894 | KIF5A | c.723G>A (p.Lys241=) c.618G>A (p.Lys206=) c.456G>A (p.Lys152=) n.956G>A | |
12 | g.57568971G>C | CA385499817 | KIF5A | c.723G>C (p.Lys241Asn) c.618G>C (p.Lys206Asn) c.456G>C (p.Lys152Asn) n.956G>C | |
12 | g.57568971G>T | CA385499820 | KIF5A | c.723G>T (p.Lys241Asn) c.618G>T (p.Lys206Asn) c.456G>T (p.Lys152Asn) n.956G>T | gnomAD v4 |
12 | g.57568972A>C | CA385499823 | KIF5A | c.724A>C (p.Thr242Pro) c.619A>C (p.Thr207Pro) c.457A>C (p.Thr153Pro) n.957A>C | |
12 | g.57568972A>G | CA385499825 | KIF5A | c.724A>G (p.Thr242Ala) c.619A>G (p.Thr207Ala) c.457A>G (p.Thr153Ala) n.957A>G | |
12 | g.57568972A>T | CA385499827 | KIF5A | c.724A>T (p.Thr242Ser) c.619A>T (p.Thr207Ser) c.457A>T (p.Thr153Ser) n.957A>T | |
12 | g.57568973C>A | CA385499830 | KIF5A | c.725C>A (p.Thr242Asn) c.620C>A (p.Thr207Asn) c.458C>A (p.Thr153Asn) n.958C>A | |
12 | g.57568973C>G | CA385499835 | KIF5A | c.725C>G (p.Thr242Ser) c.620C>G (p.Thr207Ser) c.458C>G (p.Thr153Ser) n.958C>G | |
12 | g.57568973C>T | CA385499833 | KIF5A | c.725C>T (p.Thr242Ile) c.620C>T (p.Thr207Ile) c.458C>T (p.Thr153Ile) n.958C>T | |
12 | g.57568974T>A | CA480263895 | KIF5A | c.726T>A (p.Thr242=) c.621T>A (p.Thr207=) c.459T>A (p.Thr153=) n.959T>A | |
12 | g.57568974T>C | CA480263896 | KIF5A | c.726T>C (p.Thr242=) c.621T>C (p.Thr207=) c.459T>C (p.Thr153=) n.959T>C | gnomAD v4 |
12 | g.57568974T>G | CA480263897 | KIF5A | c.726T>G (p.Thr242=) c.621T>G (p.Thr207=) c.459T>G (p.Thr153=) n.959T>G | |
12 | g.57568975G>A | CA385499837 | KIF5A | c.727G>A (p.Gly243Arg) c.622G>A (p.Gly208Arg) c.460G>A (p.Gly154Arg) n.960G>A | gnomAD v4 |
12 | g.57568975G>C | CA385499839 | KIF5A | c.727G>C (p.Gly243Arg) c.622G>C (p.Gly208Arg) c.460G>C (p.Gly154Arg) n.960G>C | |
12 | g.57568975G>T | CA385499842 | KIF5A | c.727G>T (p.Gly243Ter) c.622G>T (p.Gly208Ter) c.460G>T (p.Gly154Ter) n.960G>T | |
12 | g.57568976G>A | CA385499845 | KIF5A | c.728G>A (p.Gly243Glu) c.623G>A (p.Gly208Glu) c.461G>A (p.Gly154Glu) n.961G>A | ClinVar dbSNP |
12 | g.57568976G>C | CA385499847 | KIF5A | c.728G>C (p.Gly243Ala) c.623G>C (p.Gly208Ala) c.461G>C (p.Gly154Ala) n.961G>C | |
12 | g.57568976G>T | CA385499850 | KIF5A | c.728G>T (p.Gly243Val) c.623G>T (p.Gly208Val) c.461G>T (p.Gly154Val) n.961G>T | gnomAD v4 |
12 | g.57568977A= | CA2038924851 | KIF5A | c.729A= (p.Gly243=) c.624A= (p.Gly208=) c.462A= (p.Gly154=) n.962A= | |
12 | g.57568977A>C | CA480263898 | KIF5A | c.729A>C (p.Gly243=) c.624A>C (p.Gly208=) c.462A>C (p.Gly154=) n.962A>C | |
12 | g.57568977A>G | CA480263899 | KIF5A | c.729A>G (p.Gly243=) c.624A>G (p.Gly208=) c.462A>G (p.Gly154=) n.962A>G | |
12 | g.57568977A>T | CA6652672 | KIF5A | c.729A>T (p.Gly243=) c.624A>T (p.Gly208=) c.462A>T (p.Gly154=) n.962A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.57568978G>A | CA385499855 | KIF5A | c.730G>A (p.Ala244Thr) c.625G>A (p.Ala209Thr) c.463G>A (p.Ala155Thr) n.963G>A | |
12 | g.57568978G>C | CA385499856 | KIF5A | c.730G>C (p.Ala244Pro) c.625G>C (p.Ala209Pro) c.463G>C (p.Ala155Pro) n.963G>C | ClinVar dbSNP |
12 | g.57568978G= | CA2038924860 | KIF5A | c.730G= (p.Ala244=) c.625G= (p.Ala209=) c.463G= (p.Ala155=) n.963G= | |
12 | g.57568978G>T | CA385499859 | KIF5A | c.730G>T (p.Ala244Ser) c.625G>T (p.Ala209Ser) c.463G>T (p.Ala155Ser) n.963G>T | |
12 | g.57568978_57568979delinsAA | CA2573148856 | KIF5A | c.730_731delinsAA (p.Ala244Lys) c.625_626delinsAA (p.Ala209Lys) c.463_464delinsAA (p.Ala155Lys) n.963_964delinsAA | ClinVar dbSNP |
12 | g.57568979C>A | CA385499862 | KIF5A | c.731C>A (p.Ala244Glu) c.626C>A (p.Ala209Glu) c.464C>A (p.Ala155Glu) n.964C>A | |
12 | g.57568979C>G | CA385499864 | KIF5A | c.731C>G (p.Ala244Gly) c.626C>G (p.Ala209Gly) c.464C>G (p.Ala155Gly) n.964C>G | |
12 | g.57568979C>T | CA385499865 | KIF5A | c.731C>T (p.Ala244Val) c.626C>T (p.Ala209Val) c.464C>T (p.Ala155Val) n.964C>T | |
12 | g.57568980A>C | CA480263902 | KIF5A | c.732A>C (p.Ala244=) c.627A>C (p.Ala209=) c.465A>C (p.Ala155=) n.965A>C | gnomAD v4 |
12 | g.57568980A>G | CA480263901 | KIF5A | c.732A>G (p.Ala244=) c.627A>G (p.Ala209=) c.465A>G (p.Ala155=) n.965A>G | |
12 | g.57568980A>T | CA480263900 | KIF5A | c.732A>T (p.Ala244=) c.627A>T (p.Ala209=) c.465A>T (p.Ala155=) n.965A>T | |
12 | g.57568981G>A | CA385499872 | KIF5A | c.733G>A (p.Glu245Lys) c.628G>A (p.Glu210Lys) c.466G>A (p.Glu156Lys) n.966G>A | |
12 | g.57568981G>C | CA385499868 | KIF5A | c.733G>C (p.Glu245Gln) c.628G>C (p.Glu210Gln) c.466G>C (p.Glu156Gln) n.966G>C | gnomAD v4 |
12 | g.57568981G>T | CA385499870 | KIF5A | c.733G>T (p.Glu245Ter) c.628G>T (p.Glu210Ter) c.466G>T (p.Glu156Ter) n.966G>T | |
12 | g.57568982A>C | CA385499875 | KIF5A | c.734A>C (p.Glu245Ala) c.629A>C (p.Glu210Ala) c.467A>C (p.Glu156Ala) n.967A>C | |
12 | g.57568982A>G | CA385499877 | KIF5A | c.734A>G (p.Glu245Gly) c.629A>G (p.Glu210Gly) c.467A>G (p.Glu156Gly) n.967A>G | |
12 | g.57568982A>T | CA385499878 | KIF5A | c.734A>T (p.Glu245Val) c.629A>T (p.Glu210Val) c.467A>T (p.Glu156Val) n.967A>T | |
12 | g.57568983G>A | CA480263903 | KIF5A | c.735G>A (p.Glu245=) c.630G>A (p.Glu210=) c.468G>A (p.Glu156=) n.968G>A | ClinVar |
12 | g.57568983G>C | CA385499881 | KIF5A | c.735G>C (p.Glu245Asp) c.630G>C (p.Glu210Asp) c.468G>C (p.Glu156Asp) n.968G>C | |
12 | g.57568983G>T | CA385499883 | KIF5A | c.735G>T (p.Glu245Asp) c.630G>T (p.Glu210Asp) c.468G>T (p.Glu156Asp) n.968G>T | gnomAD v4 |
12 | g.57568984G>A | CA385499885 | KIF5A | c.736G>A (p.Gly246Arg) c.631G>A (p.Gly211Arg) c.469G>A (p.Gly157Arg) n.969G>A | |
12 | g.57568984G>C | CA385499892 | KIF5A | c.736G>C (p.Gly246Arg) c.631G>C (p.Gly211Arg) c.469G>C (p.Gly157Arg) n.969G>C | |
12 | g.57568984G>T | CA385499894 | KIF5A | c.736G>T (p.Gly246Ter) c.631G>T (p.Gly211Ter) c.469G>T (p.Gly157Ter) n.969G>T | |
12 | g.57568985G>A | CA385499897 | KIF5A | c.737G>A (p.Gly246Glu) c.632G>A (p.Gly211Glu) c.470G>A (p.Gly157Glu) n.970G>A | |
12 | g.57568985G>C | CA385499899 | KIF5A | c.737G>C (p.Gly246Ala) c.632G>C (p.Gly211Ala) c.470G>C (p.Gly157Ala) n.970G>C | |
12 | g.57568985G>T | CA385499901 | KIF5A | c.737G>T (p.Gly246Val) c.632G>T (p.Gly211Val) c.470G>T (p.Gly157Val) n.970G>T | ClinVar |
12 | g.57568986A>C | CA480263904 | KIF5A | c.738A>C (p.Gly246=) c.633A>C (p.Gly211=) c.471A>C (p.Gly157=) n.971A>C | |
12 | g.57568986A>G | CA480263906 | KIF5A | c.738A>G (p.Gly246=) c.633A>G (p.Gly211=) c.471A>G (p.Gly157=) n.971A>G | |
12 | g.57568986A>T | CA480263905 | KIF5A | c.738A>T (p.Gly246=) c.633A>T (p.Gly211=) c.471A>T (p.Gly157=) n.971A>T | |
12 | g.57568987G>A | CA385499908 | KIF5A | c.739G>A (p.Ala247Thr) c.634G>A (p.Ala212Thr) c.472G>A (p.Ala158Thr) n.972G>A | gnomAD v4 |
12 | g.57568987G>C | CA385499904 | KIF5A | c.739G>C (p.Ala247Pro) c.634G>C (p.Ala212Pro) c.472G>C (p.Ala158Pro) n.972G>C | |
12 | g.57568987G>T | CA385499906 | KIF5A | c.739G>T (p.Ala247Ser) c.634G>T (p.Ala212Ser) c.472G>T (p.Ala158Ser) n.972G>T | |
12 | g.57568988C>A | CA385499911 | KIF5A | c.740C>A (p.Ala247Asp) c.635C>A (p.Ala212Asp) c.473C>A (p.Ala158Asp) n.973C>A | |
12 | g.57568988C>G | CA385499915 | KIF5A | c.740C>G (p.Ala247Gly) c.635C>G (p.Ala212Gly) c.473C>G (p.Ala158Gly) n.973C>G | |
12 | g.57568988C>T | CA385499913 | KIF5A | c.740C>T (p.Ala247Val) c.635C>T (p.Ala212Val) c.473C>T (p.Ala158Val) n.973C>T | gnomAD v4 |
12 | g.57568989C>A | CA480263907 | KIF5A | c.741C>A (p.Ala247=) c.636C>A (p.Ala212=) c.474C>A (p.Ala158=) n.974C>A | |
12 | g.57568989C= | CA2038924872 | KIF5A | c.741C= (p.Ala247=) c.636C= (p.Ala212=) c.474C= (p.Ala158=) n.974C= | |
12 | g.57568989C>G | CA480263908 | KIF5A | c.741C>G (p.Ala247=) c.636C>G (p.Ala212=) c.474C>G (p.Ala158=) n.974C>G | |
12 | g.57568989C>T | CA6652673 | KIF5A | c.741C>T (p.Ala247=) c.636C>T (p.Ala212=) c.474C>T (p.Ala158=) n.974C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.57568990G>A | CA237783099 | KIF5A | c.742G>A (p.Val248Met) c.637G>A (p.Val213Met) c.475G>A (p.Val159Met) n.975G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.57568990G>C | CA385499922 | KIF5A | c.742G>C (p.Val248Leu) c.637G>C (p.Val213Leu) c.475G>C (p.Val159Leu) n.975G>C | |
12 | g.57568990G= | CA2038924882 | KIF5A | c.742G= (p.Val248=) c.637G= (p.Val213=) c.475G= (p.Val159=) n.975G= | |
12 | g.57568990G>T | CA385499923 | KIF5A | c.742G>T (p.Val248Leu) c.637G>T (p.Val213Leu) c.475G>T (p.Val159Leu) n.975G>T | ClinVar gnomAD v4 COSMIC |
12 | g.57568991T>A | CA385499927 | KIF5A | c.743T>A (p.Val248Glu) c.638T>A (p.Val213Glu) c.476T>A (p.Val159Glu) n.976T>A | |
12 | g.57568991T>C | CA385499930 | KIF5A | c.743T>C (p.Val248Ala) c.638T>C (p.Val213Ala) c.476T>C (p.Val159Ala) n.976T>C | |
12 | g.57568991T>G | CA385499932 | KIF5A | c.743T>G (p.Val248Gly) c.638T>G (p.Val213Gly) c.476T>G (p.Val159Gly) n.976T>G | |
12 | g.57568992G>A | CA480263909 | KIF5A | c.744G>A (p.Val248=) c.639G>A (p.Val213=) c.477G>A (p.Val159=) n.977G>A | gnomAD v4 |
12 | g.57568992G>C | CA480263910 | KIF5A | c.744G>C (p.Val248=) c.639G>C (p.Val213=) c.477G>C (p.Val159=) n.977G>C | ClinVar |
12 | g.57568992G>T | CA480263911 | KIF5A | c.744G>T (p.Val248=) c.639G>T (p.Val213=) c.477G>T (p.Val159=) n.977G>T | |
12 | g.57568993C>A | CA385499933 | KIF5A | c.745C>A (p.Leu249Met) c.640C>A (p.Leu214Met) c.478C>A (p.Leu160Met) n.978C>A | gnomAD v4 |
12 | g.57568993C= | CA2038924907 | KIF5A | c.745C= (p.Leu249=) c.640C= (p.Leu214=) c.478C= (p.Leu160=) n.978C= | |
12 | g.57568993C>G | CA385499934 | KIF5A | c.745C>G (p.Leu249Val) c.640C>G (p.Leu214Val) c.478C>G (p.Leu160Val) n.978C>G | ClinVar |
12 | g.57568993C>T | CA6652674 | KIF5A | c.745C>T (p.Leu249=) c.640C>T (p.Leu214=) c.478C>T (p.Leu160=) n.978C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57568994T>A | CA385499938 | KIF5A | c.746T>A (p.Leu249Gln) c.641T>A (p.Leu214Gln) c.479T>A (p.Leu160Gln) n.979T>A | |
12 | g.57568994T>C | CA385499940 | KIF5A | c.746T>C (p.Leu249Pro) c.641T>C (p.Leu214Pro) c.479T>C (p.Leu160Pro) n.979T>C | |
12 | g.57568994T>G | CA385499942 | KIF5A | c.746T>G (p.Leu249Arg) c.641T>G (p.Leu214Arg) c.479T>G (p.Leu160Arg) n.979T>G | |
12 | g.57568995G>A | CA480263912 | KIF5A | c.747G>A (p.Leu249=) c.642G>A (p.Leu214=) c.480G>A (p.Leu160=) n.980G>A | dbSNP gnomAD v4 |
12 | g.57568995G>C | CA480263913 | KIF5A | c.747G>C (p.Leu249=) c.642G>C (p.Leu214=) c.480G>C (p.Leu160=) n.980G>C | |
12 | g.57568995G= | CA2038924926 | KIF5A | c.747G= (p.Leu249=) c.642G= (p.Leu214=) c.480G= (p.Leu160=) n.980G= | |
12 | g.57568995G>T | CA480263914 | KIF5A | c.747G>T (p.Leu249=) c.642G>T (p.Leu214=) c.480G>T (p.Leu160=) n.980G>T | |
12 | g.57568996G>A | CA385499950 | KIF5A | c.748G>A (p.Asp250Asn) c.643G>A (p.Asp215Asn) c.481G>A (p.Asp161Asn) n.981G>A | |
12 | g.57568996G>C | CA385499945 | KIF5A | c.748G>C (p.Asp250His) c.643G>C (p.Asp215His) c.481G>C (p.Asp161His) n.981G>C | |
12 | g.57568996G>T | CA385499948 | KIF5A | c.748G>T (p.Asp250Tyr) c.643G>T (p.Asp215Tyr) c.481G>T (p.Asp161Tyr) n.981G>T | |
12 | g.57568997A= | CA2038924936 | KIF5A | c.749A= (p.Asp250=) c.644A= (p.Asp215=) c.482A= (p.Asp161=) n.982A= | |
12 | g.57568997A>C | CA385499953 | KIF5A | c.749A>C (p.Asp250Ala) c.644A>C (p.Asp215Ala) c.482A>C (p.Asp161Ala) n.982A>C | |
12 | g.57568997A>G | CA385499955 | KIF5A | c.749A>G (p.Asp250Gly) c.644A>G (p.Asp215Gly) c.482A>G (p.Asp161Gly) n.982A>G | COSMIC |
12 | g.57568997A>T | CA385499957 | KIF5A | c.749A>T (p.Asp250Val) c.644A>T (p.Asp215Val) c.482A>T (p.Asp161Val) n.982A>T | |
12 | g.57568997_57568998insTATCCTG | CA2038924953 | KIF5A | c.749_750insTATCCTG (p.Glu251IlefsTer23) c.644_645insTATCCTG (p.Glu216IlefsTer23) c.482_483insTATCCTG (p.Glu162IlefsTer23) n.982_983insTATCCTG | dbSNP |
12 | g.57568998C>A | CA385499960 | KIF5A | c.750C>A (p.Asp250Glu) c.645C>A (p.Asp215Glu) c.483C>A (p.Asp161Glu) n.983C>A | |
12 | g.57568998C= | CA2038924950 | KIF5A | c.750C= (p.Asp250=) c.645C= (p.Asp215=) c.483C= (p.Asp161=) n.983C= | |
12 | g.57568998C>G | CA385499962 | KIF5A | c.750C>G (p.Asp250Glu) c.645C>G (p.Asp215Glu) c.483C>G (p.Asp161Glu) n.983C>G | dbSNP |
12 | g.57568998C>T | CA16043759 | KIF5A | c.750C>T (p.Asp250=) c.645C>T (p.Asp215=) c.483C>T (p.Asp161=) n.983C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57568999G>A | CA130084 | KIF5A | c.751G>A (p.Glu251Lys) c.646G>A (p.Glu216Lys) c.484G>A (p.Glu162Lys) n.984G>A | ClinVar dbSNP gnomAD v4 |
12 | g.57568999G>C | CA385499973 | KIF5A | c.751G>C (p.Glu251Gln) c.646G>C (p.Glu216Gln) c.484G>C (p.Glu162Gln) n.984G>C | |
12 | g.57568999G= | CA2038924963 | KIF5A | c.751G= (p.Glu251=) c.646G= (p.Glu216=) c.484G= (p.Glu162=) n.984G= | |
12 | g.57568999G>T | CA385499975 | KIF5A | c.751G>T (p.Glu251Ter) c.646G>T (p.Glu216Ter) c.484G>T (p.Glu162Ter) n.984G>T | COSMIC |
12 | g.57568999_57569000insGGACGTCTTCGGCAAGCCGACGTCGATCACCCGC | CA2038924968 | KIF5A | c.751_752insGGACGTCTTCGGCAAGCCGACGTCGATCACCCGC (p.Glu251GlyfsTer32) c.646_647insGGACGTCTTCGGCAAGCCGACGTCGATCACCCGC (p.Glu216GlyfsTer32) c.484_485insGGACGTCTTCGGCAAGCCGACGTCGATCACCCGC (p.Glu162GlyfsTer32) n.984_985insGGACGTCTTCGGCAAGCCGACGTCGATCACCCGC | dbSNP |
12 | g.57569000A>C | CA385499979 | KIF5A | c.752A>C (p.Glu251Ala) c.647A>C (p.Glu216Ala) c.485A>C (p.Glu162Ala) n.985A>C | |
12 | g.57569000A>G | CA385499981 | KIF5A | c.752A>G (p.Glu251Gly) c.647A>G (p.Glu216Gly) c.485A>G (p.Glu162Gly) n.985A>G | |
12 | g.57569000A>T | CA385499983 | KIF5A | c.752A>T (p.Glu251Val) c.647A>T (p.Glu216Val) c.485A>T (p.Glu162Val) n.985A>T | |
12 | g.57569001G>A | CA480263915 | KIF5A | c.753G>A (p.Glu251=) c.648G>A (p.Glu216=) c.486G>A (p.Glu162=) n.986G>A | |
12 | g.57569001G>C | CA385499985 | KIF5A | c.753G>C (p.Glu251Asp) c.648G>C (p.Glu216Asp) c.486G>C (p.Glu162Asp) n.986G>C | ClinVar COSMIC |
12 | g.57569001G>T | CA385499986 | KIF5A | c.753G>T (p.Glu251Asp) c.648G>T (p.Glu216Asp) c.486G>T (p.Glu162Asp) n.986G>T | |
12 | g.57569002G>A | CA385499987 | KIF5A | c.754G>A (p.Ala252Thr) c.649G>A (p.Ala217Thr) c.487G>A (p.Ala163Thr) n.987G>A | dbSNP gnomAD v2 |
12 | g.57569002G>C | CA385499989 | KIF5A | c.754G>C (p.Ala252Pro) c.649G>C (p.Ala217Pro) c.487G>C (p.Ala163Pro) n.987G>C | ClinVar |
12 | g.57569002G= | CA2038924970 | KIF5A | c.754G= (p.Ala252=) c.649G= (p.Ala217=) c.487G= (p.Ala163=) n.987G= | |
12 | g.57569002G>T | CA385499988 | KIF5A | c.754G>T (p.Ala252Ser) c.649G>T (p.Ala217Ser) c.487G>T (p.Ala163Ser) n.987G>T | |
12 | g.57569002_57569003insGCCAGCAATGGCTCGGTGACGTCGACC | CA2038924974 | KIF5A | c.754_755insGCCAGCAATGGCTCGGTGACGTCGACC (p.Ala252delinsGlyGlnGlnTrpLeuGlyAspValAspPro) c.649_650insGCCAGCAATGGCTCGGTGACGTCGACC (p.Ala217delinsGlyGlnGlnTrpLeuGlyAspValAspPro) c.487_488insGCCAGCAATGGCTCGGTGACGTCGACC (p.Ala163delinsGlyGlnGlnTrpLeuGlyAspValAspPro) n.987_988insGCCAGCAATGGCTCGGTGACGTCGACC | dbSNP |
12 | g.57569003C>A | CA385499990 | KIF5A | c.755C>A (p.Ala252Glu) c.650C>A (p.Ala217Glu) c.488C>A (p.Ala163Glu) n.988C>A | |
12 | g.57569003C>G | CA385499991 | KIF5A | c.755C>G (p.Ala252Gly) c.650C>G (p.Ala217Gly) c.488C>G (p.Ala163Gly) n.988C>G | COSMIC |
12 | g.57569003C>T | CA385499993 | KIF5A | c.755C>T (p.Ala252Val) c.650C>T (p.Ala217Val) c.488C>T (p.Ala163Val) n.988C>T | |
12 | g.57569004A>C | CA480263916 | KIF5A | c.756A>C (p.Ala252=) c.651A>C (p.Ala217=) c.489A>C (p.Ala163=) n.989A>C | |
12 | g.57569004A>G | CA480263917 | KIF5A | c.756A>G (p.Ala252=) c.651A>G (p.Ala217=) c.489A>G (p.Ala163=) n.989A>G | |
12 | g.57569004A>T | CA480263918 | KIF5A | c.756A>T (p.Ala252=) c.651A>T (p.Ala217=) c.489A>T (p.Ala163=) n.989A>T | |
12 | g.57569005A>C | CA385499994 | KIF5A | c.757A>C (p.Lys253Gln) c.652A>C (p.Lys218Gln) c.490A>C (p.Lys164Gln) n.990A>C | |
12 | g.57569005A>G | CA385499995 | KIF5A | c.757A>G (p.Lys253Glu) c.652A>G (p.Lys218Glu) c.490A>G (p.Lys164Glu) n.990A>G | |
12 | g.57569005A>T | CA385499996 | KIF5A | c.757A>T (p.Lys253Ter) c.652A>T (p.Lys218Ter) c.490A>T (p.Lys164Ter) n.990A>T | |
12 | g.57569006A>C | CA385499997 | KIF5A | c.758A>C (p.Lys253Thr) c.653A>C (p.Lys218Thr) c.491A>C (p.Lys164Thr) n.991A>C | |
12 | g.57569006A>G | CA385499998 | KIF5A | c.758A>G (p.Lys253Arg) c.653A>G (p.Lys218Arg) c.491A>G (p.Lys164Arg) n.991A>G | |
12 | g.57569006A>T | CA385499999 | KIF5A | c.758A>T (p.Lys253Met) c.653A>T (p.Lys218Met) c.491A>T (p.Lys164Met) n.991A>T | |
12 | g.57569007G>A | CA480263919 | KIF5A | c.759G>A (p.Lys253=) c.654G>A (p.Lys218=) c.492G>A (p.Lys164=) n.992G>A | |
12 | g.57569007G>C | CA385500000 | KIF5A | c.759G>C (p.Lys253Asn) c.654G>C (p.Lys218Asn) c.492G>C (p.Lys164Asn) n.992G>C | |
12 | g.57569007G>T | CA385500001 | KIF5A | c.759G>T (p.Lys253Asn) c.654G>T (p.Lys218Asn) c.492G>T (p.Lys164Asn) n.992G>T | |
12 | g.57569008A>C | CA385500004 | KIF5A | c.760A>C (p.Asn254His) c.655A>C (p.Asn219His) c.493A>C (p.Asn165His) n.993A>C | |
12 | g.57569008A>G | CA385500003 | KIF5A | c.760A>G (p.Asn254Asp) c.655A>G (p.Asn219Asp) c.493A>G (p.Asn165Asp) n.993A>G | |
12 | g.57569008A>T | CA385500002 | KIF5A | c.760A>T (p.Asn254Tyr) c.655A>T (p.Asn219Tyr) c.493A>T (p.Asn165Tyr) n.993A>T | |
12 | g.57569009A>C | CA385500007 | KIF5A | c.761A>C (p.Asn254Thr) c.656A>C (p.Asn219Thr) c.494A>C (p.Asn165Thr) n.994A>C | |
12 | g.57569009A>G | CA385500008 | KIF5A | c.761A>G (p.Asn254Ser) c.656A>G (p.Asn219Ser) c.494A>G (p.Asn165Ser) n.994A>G | |
12 | g.57569009A>T | CA385500010 | KIF5A | c.761A>T (p.Asn254Ile) c.656A>T (p.Asn219Ile) c.494A>T (p.Asn165Ile) n.994A>T | |
12 | g.57569010T>A | CA385500013 | KIF5A | c.762T>A (p.Asn254Lys) c.657T>A (p.Asn219Lys) c.495T>A (p.Asn165Lys) n.995T>A | |
12 | g.57569010T>C | CA237783102 | KIF5A | c.762T>C (p.Asn254=) c.657T>C (p.Asn219=) c.495T>C (p.Asn165=) n.995T>C | ClinVar dbSNP |
12 | g.57569010T>G | CA385500015 | KIF5A | c.762T>G (p.Asn254Lys) c.657T>G (p.Asn219Lys) c.495T>G (p.Asn165Lys) n.995T>G | |
12 | g.57569010T= | CA2038924980 | KIF5A | c.762T= (p.Asn254=) c.657T= (p.Asn219=) c.495T= (p.Asn165=) n.995T= | |
12 | g.57569011A>C | CA385500018 | KIF5A | c.763A>C (p.Ile255Leu) c.658A>C (p.Ile220Leu) c.496A>C (p.Ile166Leu) n.996A>C | |
12 | g.57569011A>G | CA385500019 | KIF5A | c.763A>G (p.Ile255Val) c.658A>G (p.Ile220Val) c.496A>G (p.Ile166Val) n.996A>G | ClinVar dbSNP |
12 | g.57569011A>T | CA385500020 | KIF5A | c.763A>T (p.Ile255Phe) c.658A>T (p.Ile220Phe) c.496A>T (p.Ile166Phe) n.996A>T | |
12 | g.57569012T>A | CA385500021 | KIF5A | c.764T>A (p.Ile255Asn) c.659T>A (p.Ile220Asn) c.497T>A (p.Ile166Asn) n.997T>A | |
12 | g.57569012T>C | CA385500022 | KIF5A | c.764T>C (p.Ile255Thr) c.659T>C (p.Ile220Thr) c.497T>C (p.Ile166Thr) n.997T>C | ClinVar dbSNP |
12 | g.57569012T>G | CA385500027 | KIF5A | c.764T>G (p.Ile255Ser) c.659T>G (p.Ile220Ser) c.497T>G (p.Ile166Ser) n.997T>G | |
12 | g.57569012_57569015delinsTCAA | CA2038924985 | KIF5A | c.764_767delinsTCAA (p.Ile255=) c.659_662delinsTCAA (p.Ile220=) c.497_500delinsTCAA (p.Ile166=) n.997_1000delinsTCAA | |
12 | g.57569013C>A | CA480264011 | KIF5A | c.765C>A (p.Ile255=) c.660C>A (p.Ile220=) c.498C>A (p.Ile166=) n.998C>A | |
12 | g.57569013C>G | CA385500031 | KIF5A | c.765C>G (p.Ile255Met) c.660C>G (p.Ile220Met) c.498C>G (p.Ile166Met) n.998C>G | ClinVar dbSNP |
12 | g.57569013C>T | CA480264012 | KIF5A | c.765C>T (p.Ile255=) c.660C>T (p.Ile220=) c.498C>T (p.Ile166=) n.998C>T | COSMIC |
12 | g.57569016_57569018del | CA891843503 | KIF5A | c.768_770del (p.Asn256del) c.663_665del (p.Asn221del) c.501_503del (p.Asn167del) n.1001_1003del | ClinVar dbSNP |
12 | g.57569014A>C | CA385500036 | KIF5A | c.766A>C (p.Asn256His) c.661A>C (p.Asn221His) c.499A>C (p.Asn167His) n.999A>C | |
12 | g.57569014A>G | CA385500043 | KIF5A | c.766A>G (p.Asn256Asp) c.661A>G (p.Asn221Asp) c.499A>G (p.Asn167Asp) n.999A>G | |
12 | g.57569014A>T | CA385500039 | KIF5A | c.766A>T (p.Asn256Tyr) c.661A>T (p.Asn221Tyr) c.499A>T (p.Asn167Tyr) n.999A>T | |
12 | g.57569015A= | CA2038924997 | KIF5A | c.767A= (p.Asn256=) c.662A= (p.Asn221=) c.500A= (p.Asn167=) n.1000A= | |
12 | g.57569015A>C | CA385500045 | KIF5A | c.767A>C (p.Asn256Thr) c.662A>C (p.Asn221Thr) c.500A>C (p.Asn167Thr) n.1000A>C | |
12 | g.57569015A>G | CA118520 | KIF5A | c.767A>G (p.Asn256Ser) c.662A>G (p.Asn221Ser) c.500A>G (p.Asn167Ser) n.1000A>G | ClinVar dbSNP |
12 | g.57569015A>T | CA385500048 | KIF5A | c.767A>T (p.Asn256Ile) c.662A>T (p.Asn221Ile) c.500A>T (p.Asn167Ile) n.1000A>T | |
12 | g.57569016C>A | CA385500055 | KIF5A | c.768C>A (p.Asn256Lys) c.663C>A (p.Asn221Lys) c.501C>A (p.Asn167Lys) n.1001C>A | |
12 | g.57569016C>G | CA385500056 | KIF5A | c.768C>G (p.Asn256Lys) c.663C>G (p.Asn221Lys) c.501C>G (p.Asn167Lys) n.1001C>G | |
12 | g.57569016C>T | CA480264014 | KIF5A | c.768C>T (p.Asn256=) c.663C>T (p.Asn221=) c.501C>T (p.Asn167=) n.1001C>T | COSMIC |
12 | g.57569017A>C | CA385500062 | KIF5A | c.769A>C (p.Lys257Gln) c.664A>C (p.Lys222Gln) c.502A>C (p.Lys168Gln) n.1002A>C | |
12 | g.57569017A>G | CA385500064 | KIF5A | c.769A>G (p.Lys257Glu) c.664A>G (p.Lys222Glu) c.502A>G (p.Lys168Glu) n.1002A>G | |
12 | g.57569017A>T | CA385500067 | KIF5A | c.769A>T (p.Lys257Ter) c.664A>T (p.Lys222Ter) c.502A>T (p.Lys168Ter) n.1002A>T | |
12 | g.57569018A= | CA2038925002 | KIF5A | c.770A= (p.Lys257=) c.665A= (p.Lys222=) c.503A= (p.Lys168=) n.1003A= | |
12 | g.57569018A>C | CA385500073 | KIF5A | c.770A>C (p.Lys257Thr) c.665A>C (p.Lys222Thr) c.503A>C (p.Lys168Thr) n.1003A>C | |
12 | g.57569018A>G | CA385500076 | KIF5A | c.770A>G (p.Lys257Arg) c.665A>G (p.Lys222Arg) c.503A>G (p.Lys168Arg) n.1003A>G | |
12 | g.57569018A>T | CA237783105 | KIF5A | c.770A>T (p.Lys257Met) c.665A>T (p.Lys222Met) c.503A>T (p.Lys168Met) n.1003A>T | dbSNP |
12 | g.57569019G>A | CA480264016 | KIF5A | c.771G>A (p.Lys257=) c.666G>A (p.Lys222=) c.504G>A (p.Lys168=) n.1004G>A | |
12 | g.57569019G>C | CA385500083 | KIF5A | c.771G>C (p.Lys257Asn) c.666G>C (p.Lys222Asn) c.504G>C (p.Lys168Asn) n.1004G>C | |
12 | g.57569019G>T | CA385500087 | KIF5A | c.771G>T (p.Lys257Asn) c.666G>T (p.Lys222Asn) c.504G>T (p.Lys168Asn) n.1004G>T | |
12 | g.57569020T>A | CA385500102 | KIF5A | c.772T>A (p.Ser258Thr) c.667T>A (p.Ser223Thr) c.505T>A (p.Ser169Thr) n.1005T>A | |
12 | g.57569020T>C | CA385500096 | KIF5A | c.772T>C (p.Ser258Pro) c.667T>C (p.Ser223Pro) c.505T>C (p.Ser169Pro) n.1005T>C | ClinVar dbSNP |
12 | g.57569020T>G | CA385500094 | KIF5A | c.772T>G (p.Ser258Ala) c.667T>G (p.Ser223Ala) c.505T>G (p.Ser169Ala) n.1005T>G | |
12 | g.57569020T= | CA2038925012 | KIF5A | c.772T= (p.Ser258=) c.667T= (p.Ser223=) c.505T= (p.Ser169=) n.1005T= | |
12 | g.57569021C>A | CA385500105 | KIF5A | c.773C>A (p.Ser258Ter) c.668C>A (p.Ser223Ter) c.506C>A (p.Ser169Ter) n.1006C>A | |
12 | g.57569021C>G | CA385500108 | KIF5A | c.773C>G (p.Ser258Ter) c.668C>G (p.Ser223Ter) c.506C>G (p.Ser169Ter) n.1006C>G | |
12 | g.57569021C>T | CA385500112 | KIF5A | c.773C>T (p.Ser258Leu) c.668C>T (p.Ser223Leu) c.506C>T (p.Ser169Leu) n.1006C>T | |
12 | g.57569022A>C | CA480264017 | KIF5A | c.774A>C (p.Ser258=) c.669A>C (p.Ser223=) c.507A>C (p.Ser169=) n.1007A>C | |
12 | g.57569022A>G | CA480264018 | KIF5A | c.774A>G (p.Ser258=) c.669A>G (p.Ser223=) c.507A>G (p.Ser169=) n.1007A>G | |
12 | g.57569022A>T | CA480264019 | KIF5A | c.774A>T (p.Ser258=) c.669A>T (p.Ser223=) c.507A>T (p.Ser169=) n.1007A>T | |
12 | g.57569023C>A | CA385500115 | KIF5A | c.775C>A (p.Leu259Met) c.670C>A (p.Leu224Met) c.508C>A (p.Leu170Met) n.1008C>A | |
12 | g.57569023C= | CA2038925018 | KIF5A | c.775C= (p.Leu259=) c.670C= (p.Leu224=) c.508C= (p.Leu170=) n.1008C= | |
12 | g.57569023C>G | CA385500117 | KIF5A | c.775C>G (p.Leu259Val) c.670C>G (p.Leu224Val) c.508C>G (p.Leu170Val) n.1008C>G | |
12 | g.57569023C>T | CA480264020 | KIF5A | c.775C>T (p.Leu259=) c.670C>T (p.Leu224=) c.508C>T (p.Leu170=) n.1008C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.57569024T>A | CA385500120 | KIF5A | c.776T>A (p.Leu259Gln) c.671T>A (p.Leu224Gln) c.509T>A (p.Leu170Gln) n.1009T>A | |
12 | g.57569024T>C | CA385500122 | KIF5A | c.776T>C (p.Leu259Pro) c.671T>C (p.Leu224Pro) c.509T>C (p.Leu170Pro) n.1009T>C | dbSNP |
12 | g.57569024T>G | CA385500127 | KIF5A | c.776T>G (p.Leu259Arg) c.671T>G (p.Leu224Arg) c.509T>G (p.Leu170Arg) n.1009T>G | |
12 | g.57569024T= | CA2038925023 | KIF5A | c.776T= (p.Leu259=) c.671T= (p.Leu224=) c.509T= (p.Leu170=) n.1009T= | |
12 | g.57569025G>A | CA480264022 | KIF5A | c.777G>A (p.Leu259=) c.672G>A (p.Leu224=) c.510G>A (p.Leu170=) n.1010G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.57569025G>C | CA6652675 | KIF5A | c.777G>C (p.Leu259=) c.672G>C (p.Leu224=) c.510G>C (p.Leu170=) n.1010G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.57569025G= | CA2038925027 | KIF5A | c.777G= (p.Leu259=) c.672G= (p.Leu224=) c.510G= (p.Leu170=) n.1010G= | |
12 | g.57569025G>T | CA480264023 | KIF5A | c.777G>T (p.Leu259=) c.672G>T (p.Leu224=) c.510G>T (p.Leu170=) n.1010G>T | |
12 | g.57569026T>A | CA385500131 | KIF5A | c.778T>A (p.Ser260Thr) c.673T>A (p.Ser225Thr) c.511T>A (p.Ser171Thr) n.1011T>A | |
12 | g.57569026T>C | CA385500133 | KIF5A | c.778T>C (p.Ser260Pro) c.673T>C (p.Ser225Pro) c.511T>C (p.Ser171Pro) n.1011T>C | |
12 | g.57569026T>G | CA385500135 | KIF5A | c.778T>G (p.Ser260Ala) c.673T>G (p.Ser225Ala) c.511T>G (p.Ser171Ala) n.1011T>G | |
12 | g.57569027C>A | CA385500141 | KIF5A | c.779C>A (p.Ser260Ter) c.674C>A (p.Ser225Ter) c.512C>A (p.Ser171Ter) n.1012C>A | |
12 | g.57569027C>G | CA385500144 | KIF5A | c.779C>G (p.Ser260Ter) c.674C>G (p.Ser225Ter) c.512C>G (p.Ser171Ter) n.1012C>G | |
12 | g.57569027C>T | CA385500137 | KIF5A | c.779C>T (p.Ser260Leu) c.674C>T (p.Ser225Leu) c.512C>T (p.Ser171Leu) n.1012C>T | |
12 | g.57569028A>C | CA480264024 | KIF5A | c.780A>C (p.Ser260=) c.675A>C (p.Ser225=) c.513A>C (p.Ser171=) n.1013A>C | |
12 | g.57569028A>G | CA480264025 | KIF5A | c.780A>G (p.Ser260=) c.675A>G (p.Ser225=) c.513A>G (p.Ser171=) n.1013A>G | |
12 | g.57569028A>T | CA480264026 | KIF5A | c.780A>T (p.Ser260=) c.675A>T (p.Ser225=) c.513A>T (p.Ser171=) n.1013A>T | |
12 | g.57569029G>A | CA385500147 | KIF5A | c.781G>A (p.Ala261Thr) c.676G>A (p.Ala226Thr) c.514G>A (p.Ala172Thr) n.1014G>A | |
12 | g.57569029G>C | CA385500149 | KIF5A | c.781G>C (p.Ala261Pro) c.676G>C (p.Ala226Pro) c.514G>C (p.Ala172Pro) n.1014G>C | |
12 | g.57569029G>T | CA385500152 | KIF5A | c.781G>T (p.Ala261Ser) c.676G>T (p.Ala226Ser) c.514G>T (p.Ala172Ser) n.1014G>T | |
12 | g.57569030C>A | CA385500156 | KIF5A | c.782C>A (p.Ala261Asp) c.677C>A (p.Ala226Asp) c.515C>A (p.Ala172Asp) n.1015C>A | COSMIC |
12 | g.57569030C>G | CA385500159 | KIF5A | c.782C>G (p.Ala261Gly) c.677C>G (p.Ala226Gly) c.515C>G (p.Ala172Gly) n.1015C>G | |
12 | g.57569030C>T | CA385500167 | KIF5A | c.782C>T (p.Ala261Val) c.677C>T (p.Ala226Val) c.515C>T (p.Ala172Val) n.1015C>T | ClinVar dbSNP COSMIC |
12 | g.57569031T>A | CA480264027 | KIF5A | c.783T>A (p.Ala261=) c.678T>A (p.Ala226=) c.516T>A (p.Ala172=) n.1016T>A | |
12 | g.57569031T>C | CA480264028 | KIF5A | c.783T>C (p.Ala261=) c.678T>C (p.Ala226=) c.516T>C (p.Ala172=) n.1016T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57569031T>G | CA480264029 | KIF5A | c.783T>G (p.Ala261=) c.678T>G (p.Ala226=) c.516T>G (p.Ala172=) n.1016T>G | |
12 | g.57569031T= | CA2038925036 | KIF5A | c.783T= (p.Ala261=) c.678T= (p.Ala226=) c.516T= (p.Ala172=) n.1016T= | |
12 | g.57569032C>A | CA385500174 | KIF5A | c.784C>A (p.Leu262Met) c.679C>A (p.Leu227Met) c.517C>A (p.Leu173Met) n.1017C>A | |
12 | g.57569032C>G | CA385500171 | KIF5A | c.784C>G (p.Leu262Val) c.679C>G (p.Leu227Val) c.517C>G (p.Leu173Val) n.1017C>G | |
12 | g.57569032C>T | CA480264031 | KIF5A | c.784C>T (p.Leu262=) c.679C>T (p.Leu227=) c.517C>T (p.Leu173=) n.1017C>T | |
12 | g.57569033T>A | CA385500179 | KIF5A | c.785T>A (p.Leu262Gln) c.680T>A (p.Leu227Gln) c.518T>A (p.Leu173Gln) n.1018T>A | |
12 | g.57569033T>C | CA385500183 | KIF5A | c.785T>C (p.Leu262Pro) c.680T>C (p.Leu227Pro) c.518T>C (p.Leu173Pro) n.1018T>C | ClinVar dbSNP |
12 | g.57569033T>G | CA385500185 | KIF5A | c.785T>G (p.Leu262Arg) c.680T>G (p.Leu227Arg) c.518T>G (p.Leu173Arg) n.1018T>G | |
12 | g.57569033T= | CA2038925055 | KIF5A | c.785T= (p.Leu262=) c.680T= (p.Leu227=) c.518T= (p.Leu173=) n.1018T= | |
12 | g.57569034G>A | CA480264033 | KIF5A | c.786G>A (p.Leu262=) c.681G>A (p.Leu227=) c.519G>A (p.Leu173=) n.1019G>A | |
12 | g.57569034G>C | CA480264034 | KIF5A | c.786G>C (p.Leu262=) c.681G>C (p.Leu227=) c.519G>C (p.Leu173=) n.1019G>C | |
12 | g.57569034G>T | CA480264032 | KIF5A | c.786G>T (p.Leu262=) c.681G>T (p.Leu227=) c.519G>T (p.Leu173=) n.1019G>T | |
12 | g.57569035G>A | CA385500189 | KIF5A | c.787G>A (p.Gly263Ser) c.682G>A (p.Gly228Ser) c.520G>A (p.Gly174Ser) n.1020G>A | |
12 | g.57569035G>C | CA385500190 | KIF5A | c.787G>C (p.Gly263Arg) c.682G>C (p.Gly228Arg) c.520G>C (p.Gly174Arg) n.1020G>C | |
12 | g.57569035G>T | CA385500191 | KIF5A | c.787G>T (p.Gly263Cys) c.682G>T (p.Gly228Cys) c.520G>T (p.Gly174Cys) n.1020G>T | |
12 | g.57569036G>A | CA385500195 | KIF5A | c.788G>A (p.Gly263Asp) c.683G>A (p.Gly228Asp) c.521G>A (p.Gly174Asp) n.1021G>A | ClinVar dbSNP |
12 | g.57569036G>C | CA385500199 | KIF5A | c.788G>C (p.Gly263Ala) c.683G>C (p.Gly228Ala) c.521G>C (p.Gly174Ala) n.1021G>C | |
12 | g.57569036G>T | CA385500197 | KIF5A | c.788G>T (p.Gly263Val) c.683G>T (p.Gly228Val) c.521G>T (p.Gly174Val) n.1021G>T | |
12 | g.57569037C>A | CA480264037 | KIF5A | c.789C>A (p.Gly263=) c.684C>A (p.Gly228=) c.522C>A (p.Gly174=) n.1022C>A | |
12 | g.57569037C>G | CA480264036 | KIF5A | c.789C>G (p.Gly263=) c.684C>G (p.Gly228=) c.522C>G (p.Gly174=) n.1022C>G | |
12 | g.57569037C>T | CA480264035 | KIF5A | c.789C>T (p.Gly263=) c.684C>T (p.Gly228=) c.522C>T (p.Gly174=) n.1022C>T | gnomAD v4 |
12 | g.57569038A>C | CA385500202 | KIF5A | c.790A>C (p.Asn264His) c.685A>C (p.Asn229His) c.523A>C (p.Asn175His) n.1023A>C | |
12 | g.57569038A>G | CA385500203 | KIF5A | c.790A>G (p.Asn264Asp) c.685A>G (p.Asn229Asp) c.523A>G (p.Asn175Asp) n.1023A>G | |
12 | g.57569038A>T | CA385500204 | KIF5A | c.790A>T (p.Asn264Tyr) c.685A>T (p.Asn229Tyr) c.523A>T (p.Asn175Tyr) n.1023A>T | |
12 | g.57569039A= | CA2038925076 | KIF5A | c.791A= (p.Asn264=) c.686A= (p.Asn229=) c.524A= (p.Asn175=) n.1024A= | |
12 | g.57569039A>C | CA385500209 | KIF5A | c.791A>C (p.Asn264Thr) c.686A>C (p.Asn229Thr) c.524A>C (p.Asn175Thr) n.1024A>C | |
12 | g.57569039A>G | CA385500210 | KIF5A | c.791A>G (p.Asn264Ser) c.686A>G (p.Asn229Ser) c.524A>G (p.Asn175Ser) n.1024A>G | |
12 | g.57569039A>T | CA385500213 | KIF5A | c.791A>T (p.Asn264Ile) c.686A>T (p.Asn229Ile) c.524A>T (p.Asn175Ile) n.1024A>T | dbSNP |
12 | g.57569040T>A | CA385500216 | KIF5A | c.792T>A (p.Asn264Lys) c.687T>A (p.Asn229Lys) c.525T>A (p.Asn175Lys) n.1025T>A | |
12 | g.57569040T>C | CA480264042 | KIF5A | c.792T>C (p.Asn264=) c.687T>C (p.Asn229=) c.525T>C (p.Asn175=) n.1025T>C | |
12 | g.57569040T>G | CA385500218 | KIF5A | c.792T>G (p.Asn264Lys) c.687T>G (p.Asn229Lys) c.525T>G (p.Asn175Lys) n.1025T>G | |
12 | g.57569041G>A | CA385500223 | KIF5A | c.793G>A (p.Val265Met) c.688G>A (p.Val230Met) c.526G>A (p.Val176Met) n.1026G>A | |
12 | g.57569041G>C | CA385500224 | KIF5A | c.793G>C (p.Val265Leu) c.688G>C (p.Val230Leu) c.526G>C (p.Val176Leu) n.1026G>C | |
12 | g.57569041G>T | CA385500225 | KIF5A | c.793G>T (p.Val265Leu) c.688G>T (p.Val230Leu) c.526G>T (p.Val176Leu) n.1026G>T | |
12 | g.57569042T>A | CA385500228 | KIF5A | c.794T>A (p.Val265Glu) c.689T>A (p.Val230Glu) c.527T>A (p.Val176Glu) n.1027T>A | |
12 | g.57569042T>C | CA385500235 | KIF5A | c.794T>C (p.Val265Ala) c.689T>C (p.Val230Ala) c.527T>C (p.Val176Ala) n.1027T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.57569042T>G | CA385500232 | KIF5A | c.794T>G (p.Val265Gly) c.689T>G (p.Val230Gly) c.527T>G (p.Val176Gly) n.1027T>G | |
12 | g.57569042T= | CA2038925081 | KIF5A | c.794T= (p.Val265=) c.689T= (p.Val230=) c.527T= (p.Val176=) n.1027T= | |
12 | g.57569043G>A | CA480264046 | KIF5A | c.795G>A (p.Val265=) c.690G>A (p.Val230=) c.528G>A (p.Val176=) n.1028G>A | ClinVar dbSNP |
12 | g.57569043G>C | CA480264047 | KIF5A | c.795G>C (p.Val265=) c.690G>C (p.Val230=) c.528G>C (p.Val176=) n.1028G>C | |
12 | g.57569043G>T | CA480264048 | KIF5A | c.795G>T (p.Val265=) c.690G>T (p.Val230=) c.528G>T (p.Val176=) n.1028G>T | |
12 | g.57569044A>C | CA385500240 | KIF5A | c.796A>C (p.Ile266Leu) c.691A>C (p.Ile231Leu) c.529A>C (p.Ile177Leu) n.1029A>C | |
12 | g.57569044A>G | CA385500246 | KIF5A | c.796A>G (p.Ile266Val) c.691A>G (p.Ile231Val) c.529A>G (p.Ile177Val) n.1029A>G | COSMIC |
12 | g.57569044A>T | CA385500243 | KIF5A | c.796A>T (p.Ile266Phe) c.691A>T (p.Ile231Phe) c.529A>T (p.Ile177Phe) n.1029A>T | |
12 | g.57569045del | CA2619471771 | KIF5A | c.797del (p.Ile266ThrfsTer19) c.692del (p.Ile231ThrfsTer19) c.530del (p.Ile177ThrfsTer19) n.1030del | gnomAD v4 |
12 | g.57569045T>A | CA385500249 | KIF5A | c.797T>A (p.Ile266Asn) c.692T>A (p.Ile231Asn) c.530T>A (p.Ile177Asn) n.1030T>A | |
12 | g.57569045T>C | CA385500252 | KIF5A | c.797T>C (p.Ile266Thr) c.692T>C (p.Ile231Thr) c.530T>C (p.Ile177Thr) n.1030T>C | |
12 | g.57569045T>G | CA385500255 | KIF5A | c.797T>G (p.Ile266Ser) c.692T>G (p.Ile231Ser) c.530T>G (p.Ile177Ser) n.1030T>G | |
12 | g.57569046C>A | CA480264050 | KIF5A | c.798C>A (p.Ile266=) c.693C>A (p.Ile231=) c.531C>A (p.Ile177=) n.1031C>A | |
12 | g.57569046C>G | CA385500258 | KIF5A | c.798C>G (p.Ile266Met) c.693C>G (p.Ile231Met) c.531C>G (p.Ile177Met) n.1031C>G | gnomAD v4 |
12 | g.57569046C>T | CA480264052 | KIF5A | c.798C>T (p.Ile266=) c.693C>T (p.Ile231=) c.531C>T (p.Ile177=) n.1031C>T | |
12 | g.57569047T>A | CA385500264 | KIF5A | c.799T>A (p.Ser267Thr) c.694T>A (p.Ser232Thr) c.532T>A (p.Ser178Thr) n.1032T>A | |
12 | g.57569047T>C | CA385500267 | KIF5A | c.799T>C (p.Ser267Pro) c.694T>C (p.Ser232Pro) c.532T>C (p.Ser178Pro) n.1032T>C | ClinVar dbSNP |
12 | g.57569047T>G | CA385500271 | KIF5A | c.799T>G (p.Ser267Ala) c.694T>G (p.Ser232Ala) c.532T>G (p.Ser178Ala) n.1032T>G | |
12 | g.57569047T= | CA2038925090 | KIF5A | c.799T= (p.Ser267=) c.694T= (p.Ser232=) c.532T= (p.Ser178=) n.1032T= | |
12 | g.57569048C>A | CA385500273 | KIF5A | c.800C>A (p.Ser267Tyr) c.695C>A (p.Ser232Tyr) c.533C>A (p.Ser178Tyr) n.1033C>A | |
12 | g.57569048C>G | CA385500277 | KIF5A | c.800C>G (p.Ser267Cys) c.695C>G (p.Ser232Cys) c.533C>G (p.Ser178Cys) n.1033C>G | |
12 | g.57569048C>T | CA385500274 | KIF5A | c.800C>T (p.Ser267Phe) c.695C>T (p.Ser232Phe) c.533C>T (p.Ser178Phe) n.1033C>T | |
12 | g.57569049C>A | CA480264054 | KIF5A | c.801C>A (p.Ser267=) c.696C>A (p.Ser232=) c.534C>A (p.Ser178=) n.1034C>A | gnomAD v4 |
12 | g.57569049C= | CA2038925105 | KIF5A | c.801C= (p.Ser267=) c.696C= (p.Ser232=) c.534C= (p.Ser178=) n.1034C= | |
12 | g.57569049C>G | CA480264055 | KIF5A | c.801C>G (p.Ser267=) c.696C>G (p.Ser232=) c.534C>G (p.Ser178=) n.1034C>G | |
12 | g.57569049C>T | CA6652676 | KIF5A | c.801C>T (p.Ser267=) c.696C>T (p.Ser232=) c.534C>T (p.Ser178=) n.1034C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |