Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94619350_94619367delinsAAGTACACAGGCAATGCC | CA2156074110 | SERPINA3 | c.799_816delinsAAGTACACAGGCAATGCC (p.Lys267=) c.145_162delinsAAGTACACAGGCAATGCC (p.Lys49=) c.1762_1779delinsAAGTACACAGGCAATGCC n.58-2991_58-2974delinsAAGTACACAGGCAATGCC c.644-2991_644-2974delinsAAGTACACAGGCAATGCC (n.644-2991_644-2974delinsAAGTACACAGGCAATGCC) c.18_35delinsAAGTACACAGGCAATGCC | |
14 | g.94619353_94619369del | CA7329893 | SERPINA3 | c.802_818del (p.Tyr268ArgfsTer7) c.148_164del (p.Tyr50ArgfsTer7) c.1765_1781del n.58-2988_58-2972del c.644-2988_644-2972del (n.644-2988_644-2972del) c.21_37del | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619362A>C | CA390855963 | SERPINA3 | c.811A>C (p.Asn271His) c.157A>C (p.Asn53His) c.1774A>C n.58-2979A>C c.644-2979A>C (n.644-2979A>C) c.30A>C | |
14 | g.94619362A>G | CA390855965 | SERPINA3 | c.811A>G (p.Asn271Asp) c.157A>G (p.Asn53Asp) c.1774A>G n.58-2979A>G c.644-2979A>G (n.644-2979A>G) c.30A>G | gnomAD v4 |
14 | g.94619362A>T | CA390855967 | SERPINA3 | c.811A>T (p.Asn271Tyr) c.157A>T (p.Asn53Tyr) c.1774A>T n.58-2979A>T c.644-2979A>T (n.644-2979A>T) c.30A>T | |
14 | g.94619363A= | CA2156074115 | SERPINA3 | c.812A= (p.Asn271=) c.158A= (p.Asn53=) c.1775A= n.58-2978A= c.644-2978A= (n.644-2978A=) c.31A= | |
14 | g.94619363A>C | CA390855972 | SERPINA3 | c.812A>C (p.Asn271Thr) c.158A>C (p.Asn53Thr) c.1775A>C n.58-2978A>C c.644-2978A>C (n.644-2978A>C) c.31A>C | |
14 | g.94619363A>G | CA265885124 | SERPINA3 | c.812A>G (p.Asn271Ser) c.158A>G (p.Asn53Ser) c.1775A>G n.58-2978A>G c.644-2978A>G (n.644-2978A>G) c.31A>G | dbSNP |
14 | g.94619363A>T | CA390855969 | SERPINA3 | c.812A>T (p.Asn271Ile) c.158A>T (p.Asn53Ile) c.1775A>T n.58-2978A>T c.644-2978A>T (n.644-2978A>T) c.31A>T | |
14 | g.94619364T>A | CA390855973 | SERPINA3 | c.813T>A (p.Asn271Lys) c.159T>A (p.Asn53Lys) c.1776T>A n.58-2977T>A c.644-2977T>A (n.644-2977T>A) c.32T>A | |
14 | g.94619364T>C | CA487625259 | SERPINA3 | c.813T>C (p.Asn271=) c.159T>C (p.Asn53=) c.1776T>C n.58-2977T>C c.644-2977T>C (n.644-2977T>C) c.32T>C | |
14 | g.94619364T>G | CA390855976 | SERPINA3 | c.813T>G (p.Asn271Lys) c.159T>G (p.Asn53Lys) c.1776T>G n.58-2977T>G c.644-2977T>G (n.644-2977T>G) c.32T>G | |
14 | g.94619365G>A | CA390855978 | SERPINA3 | c.814G>A (p.Ala272Thr) c.160G>A (p.Ala54Thr) c.1777G>A n.58-2976G>A c.644-2976G>A (n.644-2976G>A) c.33G>A | COSMIC |
14 | g.94619365G>C | CA390855980 | SERPINA3 | c.814G>C (p.Ala272Pro) c.160G>C (p.Ala54Pro) c.1777G>C n.58-2976G>C c.644-2976G>C (n.644-2976G>C) c.33G>C | |
14 | g.94619365G>T | CA390855981 | SERPINA3 | c.814G>T (p.Ala272Ser) c.160G>T (p.Ala54Ser) c.1777G>T n.58-2976G>T c.644-2976G>T (n.644-2976G>T) c.33G>T | |
14 | g.94619366C>A | CA390855983 | SERPINA3 | c.815C>A (p.Ala272Asp) c.161C>A (p.Ala54Asp) c.1778C>A n.58-2975C>A c.644-2975C>A (n.644-2975C>A) c.34C>A | |
14 | g.94619366C= | CA2156074116 | SERPINA3 | c.815C= (p.Ala272=) c.161C= (p.Ala54=) c.1778C= n.58-2975C= c.644-2975C= (n.644-2975C=) c.34C= | |
14 | g.94619366C>G | CA7329895 | SERPINA3 | c.815C>G (p.Ala272Gly) c.161C>G (p.Ala54Gly) c.1778C>G n.58-2975C>G c.644-2975C>G (n.644-2975C>G) c.34C>G | dbSNP ExAC gnomAD v4 |
14 | g.94619366C>T | CA390855986 | SERPINA3 | c.815C>T (p.Ala272Val) c.161C>T (p.Ala54Val) c.1778C>T n.58-2975C>T c.644-2975C>T (n.644-2975C>T) c.34C>T | gnomAD v4 |
14 | g.94619367C>A | CA487625260 | SERPINA3 | c.816C>A (p.Ala272=) c.162C>A (p.Ala54=) c.1779C>A n.58-2974C>A c.644-2974C>A (n.644-2974C>A) c.35C>A | |
14 | g.94619367C= | CA2156074117 | SERPINA3 | c.816C= (p.Ala272=) c.162C= (p.Ala54=) c.1779C= n.58-2974C= c.644-2974C= (n.644-2974C=) c.35C= | |
14 | g.94619367C>G | CA487625262 | SERPINA3 | c.816C>G (p.Ala272=) c.162C>G (p.Ala54=) c.1779C>G n.58-2974C>G c.644-2974C>G (n.644-2974C>G) c.35C>G | |
14 | g.94619367C>T | CA487625261 | SERPINA3 | c.816C>T (p.Ala272=) c.162C>T (p.Ala54=) c.1779C>T n.58-2974C>T c.644-2974C>T (n.644-2974C>T) c.35C>T | dbSNP gnomAD v2 |
14 | g.94619368A>C | CA390855988 | SERPINA3 | c.817A>C (p.Ser273Arg) c.163A>C (p.Ser55Arg) c.1780A>C n.58-2973A>C c.644-2973A>C (n.644-2973A>C) c.36A>C | |
14 | g.94619368A>G | CA390855990 | SERPINA3 | c.817A>G (p.Ser273Gly) c.163A>G (p.Ser55Gly) c.1780A>G n.58-2973A>G c.644-2973A>G (n.644-2973A>G) c.36A>G | |
14 | g.94619368A>T | CA390855992 | SERPINA3 | c.817A>T (p.Ser273Cys) c.163A>T (p.Ser55Cys) c.1780A>T n.58-2973A>T c.644-2973A>T (n.644-2973A>T) c.36A>T | |
14 | g.94619369G>A | CA390855994 | SERPINA3 | c.818G>A (p.Ser273Asn) c.164G>A (p.Ser55Asn) c.1781G>A n.58-2972G>A c.644-2972G>A (n.644-2972G>A) c.37G>A | gnomAD v4 |
14 | g.94619369G>C | CA390855996 | SERPINA3 | c.818G>C (p.Ser273Thr) c.164G>C (p.Ser55Thr) c.1781G>C n.58-2972G>C c.644-2972G>C (n.644-2972G>C) c.37G>C | |
14 | g.94619369G>T | CA390855998 | SERPINA3 | c.818G>T (p.Ser273Ile) c.164G>T (p.Ser55Ile) c.1781G>T n.58-2972G>T c.644-2972G>T (n.644-2972G>T) c.37G>T | |
14 | g.94619370C>A | CA7329897 | SERPINA3 | c.819C>A (p.Ser273Arg) c.165C>A (p.Ser55Arg) c.1782C>A n.58-2971C>A c.644-2971C>A (n.644-2971C>A) c.38C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619370C= | CA2156074118 | SERPINA3 | c.819C= (p.Ser273=) c.165C= (p.Ser55=) c.1782C= n.58-2971C= c.644-2971C= (n.644-2971C=) c.38C= | |
14 | g.94619370C>G | CA390856002 | SERPINA3 | c.819C>G (p.Ser273Arg) c.165C>G (p.Ser55Arg) c.1782C>G n.58-2971C>G c.644-2971C>G (n.644-2971C>G) c.38C>G | |
14 | g.94619370C>T | CA7329896 | SERPINA3 | c.819C>T (p.Ser273=) c.165C>T (p.Ser55=) c.1782C>T n.58-2971C>T c.644-2971C>T (n.644-2971C>T) c.38C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619371G>A | CA7329898 | SERPINA3 | c.820G>A (p.Ala274Thr) c.166G>A (p.Ala56Thr) c.1783G>A n.58-2970G>A c.644-2970G>A (n.644-2970G>A) c.39G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619371G>C | CA390856006 | SERPINA3 | c.820G>C (p.Ala274Pro) c.166G>C (p.Ala56Pro) c.1783G>C n.58-2970G>C c.644-2970G>C (n.644-2970G>C) c.39G>C | dbSNP gnomAD v4 |
14 | g.94619371G= | CA2156074119 | SERPINA3 | c.820G= (p.Ala274=) c.166G= (p.Ala56=) c.1783G= n.58-2970G= c.644-2970G= (n.644-2970G=) c.39G= | |
14 | g.94619371G>T | CA390856008 | SERPINA3 | c.820G>T (p.Ala274Ser) c.166G>T (p.Ala56Ser) c.1783G>T n.58-2970G>T c.644-2970G>T (n.644-2970G>T) c.39G>T | gnomAD v4 |
14 | g.94619372C>A | CA390856009 | SERPINA3 | c.821C>A (p.Ala274Glu) c.167C>A (p.Ala56Glu) c.1784C>A n.58-2969C>A c.644-2969C>A (n.644-2969C>A) c.40C>A | |
14 | g.94619372C>G | CA390856010 | SERPINA3 | c.821C>G (p.Ala274Gly) c.167C>G (p.Ala56Gly) c.1784C>G n.58-2969C>G c.644-2969C>G (n.644-2969C>G) c.40C>G | |
14 | g.94619372C>T | CA390856012 | SERPINA3 | c.821C>T (p.Ala274Val) c.167C>T (p.Ala56Val) c.1784C>T n.58-2969C>T c.644-2969C>T (n.644-2969C>T) c.40C>T | |
14 | g.94619373A= | CA2156074120 | SERPINA3 | c.822A= (p.Ala274=) c.168A= (p.Ala56=) c.1785A= n.58-2968A= c.644-2968A= (n.644-2968A=) c.41A= | |
14 | g.94619373A>C | CA7329899 | SERPINA3 | c.822A>C (p.Ala274=) c.168A>C (p.Ala56=) c.1785A>C n.58-2968A>C c.644-2968A>C (n.644-2968A>C) c.41A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619373A>G | CA265885163 | SERPINA3 | c.822A>G (p.Ala274=) c.168A>G (p.Ala56=) c.1785A>G n.58-2968A>G c.644-2968A>G (n.644-2968A>G) c.41A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619373A>T | CA487625263 | SERPINA3 | c.822A>T (p.Ala274=) c.168A>T (p.Ala56=) c.1785A>T n.58-2968A>T c.644-2968A>T (n.644-2968A>T) c.41A>T | gnomAD v4 |
14 | g.94619374C>A | CA390856015 | SERPINA3 | c.823C>A (p.Leu275Ile) c.169C>A (p.Leu57Ile) c.1786C>A n.58-2967C>A c.644-2967C>A (n.644-2967C>A) c.42C>A | |
14 | g.94619374C>G | CA390856017 | SERPINA3 | c.823C>G (p.Leu275Val) c.169C>G (p.Leu57Val) c.1786C>G n.58-2967C>G c.644-2967C>G (n.644-2967C>G) c.42C>G | COSMIC COSMIC |
14 | g.94619374C>T | CA390856019 | SERPINA3 | c.823C>T (p.Leu275Phe) c.169C>T (p.Leu57Phe) c.1786C>T n.58-2967C>T c.644-2967C>T (n.644-2967C>T) c.42C>T | |
14 | g.94619375T>A | CA390856021 | SERPINA3 | c.824T>A (p.Leu275His) c.170T>A (p.Leu57His) c.1787T>A n.58-2966T>A c.644-2966T>A (n.644-2966T>A) c.43T>A | |
14 | g.94619375T>C | CA390856023 | SERPINA3 | c.824T>C (p.Leu275Pro) c.170T>C (p.Leu57Pro) c.1787T>C n.58-2966T>C c.644-2966T>C (n.644-2966T>C) c.43T>C | gnomAD v4 |
14 | g.94619375T>G | CA390856024 | SERPINA3 | c.824T>G (p.Leu275Arg) c.170T>G (p.Leu57Arg) c.1787T>G n.58-2966T>G c.644-2966T>G (n.644-2966T>G) c.43T>G | |
14 | g.94619376C>A | CA487625264 | SERPINA3 | c.825C>A (p.Leu275=) c.171C>A (p.Leu57=) c.1788C>A n.58-2965C>A c.644-2965C>A (n.644-2965C>A) c.44C>A | |
14 | g.94619376C= | CA2156074121 | SERPINA3 | c.825C= (p.Leu275=) c.171C= (p.Leu57=) c.1788C= n.58-2965C= c.644-2965C= (n.644-2965C=) c.44C= | |
14 | g.94619376C>G | CA7329900 | SERPINA3 | c.825C>G (p.Leu275=) c.171C>G (p.Leu57=) c.1788C>G n.58-2965C>G c.644-2965C>G (n.644-2965C>G) c.44C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619376C>T | CA487625265 | SERPINA3 | c.825C>T (p.Leu275=) c.171C>T (p.Leu57=) c.1788C>T n.58-2965C>T c.644-2965C>T (n.644-2965C>T) c.44C>T | dbSNP |
14 | g.94619377T>A | CA390856031 | SERPINA3 | c.826T>A (p.Phe276Ile) c.172T>A (p.Phe58Ile) c.1789T>A n.58-2964T>A c.644-2964T>A (n.644-2964T>A) c.45T>A | |
14 | g.94619377T>C | CA390856028 | SERPINA3 | c.826T>C (p.Phe276Leu) c.172T>C (p.Phe58Leu) c.1789T>C n.58-2964T>C c.644-2964T>C (n.644-2964T>C) c.45T>C | |
14 | g.94619377T>G | CA390856029 | SERPINA3 | c.826T>G (p.Phe276Val) c.172T>G (p.Phe58Val) c.1789T>G n.58-2964T>G c.644-2964T>G (n.644-2964T>G) c.45T>G | |
14 | g.94619378T>A | CA390856034 | SERPINA3 | c.827T>A (p.Phe276Tyr) c.173T>A (p.Phe58Tyr) c.1790T>A n.58-2963T>A c.644-2963T>A (n.644-2963T>A) c.46T>A | |
14 | g.94619378T>C | CA390856035 | SERPINA3 | c.827T>C (p.Phe276Ser) c.173T>C (p.Phe58Ser) c.1790T>C n.58-2963T>C c.644-2963T>C (n.644-2963T>C) c.46T>C | |
14 | g.94619378T>G | CA390856037 | SERPINA3 | c.827T>G (p.Phe276Cys) c.173T>G (p.Phe58Cys) c.1790T>G n.58-2963T>G c.644-2963T>G (n.644-2963T>G) c.46T>G | |
14 | g.94619379C>A | CA390856039 | SERPINA3 | c.828C>A (p.Phe276Leu) c.174C>A (p.Phe58Leu) c.1791C>A n.58-2962C>A c.644-2962C>A (n.644-2962C>A) c.47C>A | |
14 | g.94619379C>G | CA390856041 | SERPINA3 | c.828C>G (p.Phe276Leu) c.174C>G (p.Phe58Leu) c.1791C>G n.58-2962C>G c.644-2962C>G (n.644-2962C>G) c.47C>G | |
14 | g.94619379C>T | CA487625266 | SERPINA3 | c.828C>T (p.Phe276=) c.174C>T (p.Phe58=) c.1791C>T n.58-2962C>T c.644-2962C>T (n.644-2962C>T) c.47C>T | gnomAD v4 |
14 | g.94619380A= | CA2156074122 | SERPINA3 | c.829A= (p.Ile277=) c.175A= (p.Ile59=) c.1792A= n.58-2961A= c.644-2961A= (n.644-2961A=) c.48A= | |
14 | g.94619380A>C | CA390856043 | SERPINA3 | c.829A>C (p.Ile277Leu) c.175A>C (p.Ile59Leu) c.1792A>C n.58-2961A>C c.644-2961A>C (n.644-2961A>C) c.48A>C | |
14 | g.94619380A>G | CA390856045 | SERPINA3 | c.829A>G (p.Ile277Val) c.175A>G (p.Ile59Val) c.1792A>G n.58-2961A>G c.644-2961A>G (n.644-2961A>G) c.48A>G | gnomAD v4 |
14 | g.94619380A>T | CA7329901 | SERPINA3 | c.829A>T (p.Ile277Phe) c.175A>T (p.Ile59Phe) c.1792A>T n.58-2961A>T c.644-2961A>T (n.644-2961A>T) c.48A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619381T>A | CA390856048 | SERPINA3 | c.830T>A (p.Ile277Asn) c.176T>A (p.Ile59Asn) c.1793T>A n.58-2960T>A c.644-2960T>A (n.644-2960T>A) c.49T>A | |
14 | g.94619381T>C | CA390856049 | SERPINA3 | c.830T>C (p.Ile277Thr) c.176T>C (p.Ile59Thr) c.1793T>C n.58-2960T>C c.644-2960T>C (n.644-2960T>C) c.49T>C | |
14 | g.94619381T>G | CA390856051 | SERPINA3 | c.830T>G (p.Ile277Ser) c.176T>G (p.Ile59Ser) c.1793T>G n.58-2960T>G c.644-2960T>G (n.644-2960T>G) c.49T>G | |
14 | g.94619382C>A | CA487625267 | SERPINA3 | c.831C>A (p.Ile277=) c.177C>A (p.Ile59=) c.1794C>A n.58-2959C>A c.644-2959C>A (n.644-2959C>A) c.50C>A | |
14 | g.94619382C>G | CA390856053 | SERPINA3 | c.831C>G (p.Ile277Met) c.177C>G (p.Ile59Met) c.1794C>G n.58-2959C>G c.644-2959C>G (n.644-2959C>G) c.50C>G | gnomAD v4 |
14 | g.94619382C>T | CA487625268 | SERPINA3 | c.831C>T (p.Ile277=) c.177C>T (p.Ile59=) c.1794C>T n.58-2959C>T c.644-2959C>T (n.644-2959C>T) c.50C>T | |
14 | g.94619383C>A | CA390856055 | SERPINA3 | c.832C>A (p.Leu278Ile) c.178C>A (p.Leu60Ile) c.1795C>A n.58-2958C>A c.644-2958C>A (n.644-2958C>A) c.51C>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619383C= | CA2156074123 | SERPINA3 | c.832C= (p.Leu278=) c.178C= (p.Leu60=) c.1795C= n.58-2958C= c.644-2958C= (n.644-2958C=) c.51C= | |
14 | g.94619383C>G | CA390856058 | SERPINA3 | c.832C>G (p.Leu278Val) c.178C>G (p.Leu60Val) c.1795C>G n.58-2958C>G c.644-2958C>G (n.644-2958C>G) c.51C>G | |
14 | g.94619383C>T | CA390856056 | SERPINA3 | c.832C>T (p.Leu278Phe) c.178C>T (p.Leu60Phe) c.1795C>T n.58-2958C>T c.644-2958C>T (n.644-2958C>T) c.51C>T | gnomAD v4 |
14 | g.94619384T>A | CA390856061 | SERPINA3 | c.833T>A (p.Leu278His) c.179T>A (p.Leu60His) c.1796T>A n.58-2957T>A c.644-2957T>A (n.644-2957T>A) c.52T>A | |
14 | g.94619384T>C | CA7329902 | SERPINA3 | c.833T>C (p.Leu278Pro) c.179T>C (p.Leu60Pro) c.1796T>C n.58-2957T>C c.644-2957T>C (n.644-2957T>C) c.52T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619384T>G | CA390856063 | SERPINA3 | c.833T>G (p.Leu278Arg) c.179T>G (p.Leu60Arg) c.1796T>G n.58-2957T>G c.644-2957T>G (n.644-2957T>G) c.52T>G | |
14 | g.94619384T= | CA2156074124 | SERPINA3 | c.833T= (p.Leu278=) c.179T= (p.Leu60=) c.1796T= n.58-2957T= c.644-2957T= (n.644-2957T=) c.52T= | |
14 | g.94619385C>A | CA487625269 | SERPINA3 | c.834C>A (p.Leu278=) c.180C>A (p.Leu60=) c.1797C>A n.58-2956C>A c.644-2956C>A (n.644-2956C>A) c.53C>A | gnomAD v4 |
14 | g.94619385C= | CA2156074125 | SERPINA3 | c.834C= (p.Leu278=) c.180C= (p.Leu60=) c.1797C= n.58-2956C= c.644-2956C= (n.644-2956C=) c.53C= | |
14 | g.94619385C>G | CA487625270 | SERPINA3 | c.834C>G (p.Leu278=) c.180C>G (p.Leu60=) c.1797C>G n.58-2956C>G c.644-2956C>G (n.644-2956C>G) c.53C>G | gnomAD v4 |
14 | g.94619385C>T | CA265885183 | SERPINA3 | c.834C>T (p.Leu278=) c.180C>T (p.Leu60=) c.1797C>T n.58-2956C>T c.644-2956C>T (n.644-2956C>T) c.53C>T | dbSNP gnomAD v4 |
14 | g.94619386C>A | CA390856066 | SERPINA3 | c.835C>A (p.Pro279Thr) c.181C>A (p.Pro61Thr) c.1798C>A n.58-2955C>A c.644-2955C>A (n.644-2955C>A) c.54C>A | |
14 | g.94619386C= | CA2156074126 | SERPINA3 | c.835C= (p.Pro279=) c.181C= (p.Pro61=) c.1798C= n.58-2955C= c.644-2955C= (n.644-2955C=) c.54C= | |
14 | g.94619386C>G | CA390856068 | SERPINA3 | c.835C>G (p.Pro279Ala) c.181C>G (p.Pro61Ala) c.1798C>G n.58-2955C>G c.644-2955C>G (n.644-2955C>G) c.54C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619386C>T | CA390856070 | SERPINA3 | c.835C>T (p.Pro279Ser) c.181C>T (p.Pro61Ser) c.1798C>T n.58-2955C>T c.644-2955C>T (n.644-2955C>T) c.54C>T | COSMIC |
14 | g.94619387C>A | CA390856072 | SERPINA3 | c.836C>A (p.Pro279His) c.182C>A (p.Pro61His) c.1799C>A n.58-2954C>A c.644-2954C>A (n.644-2954C>A) c.55C>A | |
14 | g.94619387C>G | CA390856075 | SERPINA3 | c.836C>G (p.Pro279Arg) c.182C>G (p.Pro61Arg) c.1799C>G n.58-2954C>G c.644-2954C>G (n.644-2954C>G) c.55C>G | |
14 | g.94619387C>T | CA390856076 | SERPINA3 | c.836C>T (p.Pro279Leu) c.182C>T (p.Pro61Leu) c.1799C>T n.58-2954C>T c.644-2954C>T (n.644-2954C>T) c.55C>T | |
14 | g.94619388T>A | CA487625273 | SERPINA3 | c.837T>A (p.Pro279=) c.183T>A (p.Pro61=) c.1800T>A n.58-2953T>A c.644-2953T>A (n.644-2953T>A) c.56T>A | |
14 | g.94619388T>C | CA487625272 | SERPINA3 | c.837T>C (p.Pro279=) c.183T>C (p.Pro61=) c.1800T>C n.58-2953T>C c.644-2953T>C (n.644-2953T>C) c.56T>C | |
14 | g.94619388T>G | CA487625271 | SERPINA3 | c.837T>G (p.Pro279=) c.183T>G (p.Pro61=) c.1800T>G n.58-2953T>G c.644-2953T>G (n.644-2953T>G) c.56T>G | |
14 | g.94619389G>A | CA390856082 | SERPINA3 | c.838G>A (p.Asp280Asn) c.184G>A (p.Asp62Asn) c.1801G>A n.58-2952G>A c.644-2952G>A (n.644-2952G>A) c.57G>A | |
14 | g.94619389G>C | CA390856081 | SERPINA3 | c.838G>C (p.Asp280His) c.184G>C (p.Asp62His) c.1801G>C n.58-2952G>C c.644-2952G>C (n.644-2952G>C) c.57G>C | |
14 | g.94619389G>T | CA390856079 | SERPINA3 | c.838G>T (p.Asp280Tyr) c.184G>T (p.Asp62Tyr) c.1801G>T n.58-2952G>T c.644-2952G>T (n.644-2952G>T) c.57G>T | gnomAD v4 |
14 | g.94619390A>C | CA390856085 | SERPINA3 | c.839A>C (p.Asp280Ala) c.185A>C (p.Asp62Ala) c.1802A>C n.58-2951A>C c.644-2951A>C (n.644-2951A>C) c.58A>C | |
14 | g.94619390A>G | CA390856089 | SERPINA3 | c.839A>G (p.Asp280Gly) c.185A>G (p.Asp62Gly) c.1802A>G n.58-2951A>G c.644-2951A>G (n.644-2951A>G) c.58A>G | |
14 | g.94619390A>T | CA390856086 | SERPINA3 | c.839A>T (p.Asp280Val) c.185A>T (p.Asp62Val) c.1802A>T n.58-2951A>T c.644-2951A>T (n.644-2951A>T) c.58A>T | |
14 | g.94619391T>A | CA390856091 | SERPINA3 | c.840T>A (p.Asp280Glu) c.186T>A (p.Asp62Glu) c.1803T>A n.58-2950T>A c.644-2950T>A (n.644-2950T>A) c.59T>A | |
14 | g.94619391T>C | CA487625274 | SERPINA3 | c.840T>C (p.Asp280=) c.186T>C (p.Asp62=) c.1803T>C n.58-2950T>C c.644-2950T>C (n.644-2950T>C) c.59T>C | |
14 | g.94619391T>G | CA265885185 | SERPINA3 | c.840T>G (p.Asp280Glu) c.186T>G (p.Asp62Glu) c.1803T>G n.58-2950T>G c.644-2950T>G (n.644-2950T>G) c.59T>G | dbSNP |
14 | g.94619391T= | CA2156074127 | SERPINA3 | c.840T= (p.Asp280=) c.186T= (p.Asp62=) c.1803T= n.58-2950T= c.644-2950T= (n.644-2950T=) c.59T= | |
14 | g.94619392C>A | CA390856093 | SERPINA3 | c.841C>A (p.Gln281Lys) c.187C>A (p.Gln63Lys) c.1804C>A n.58-2949C>A c.644-2949C>A (n.644-2949C>A) c.60C>A | |
14 | g.94619392C= | CA2156074128 | SERPINA3 | c.841C= (p.Gln281=) c.187C= (p.Gln63=) c.1804C= n.58-2949C= c.644-2949C= (n.644-2949C=) c.60C= | |
14 | g.94619392C>G | CA390856094 | SERPINA3 | c.841C>G (p.Gln281Glu) c.187C>G (p.Gln63Glu) c.1804C>G n.58-2949C>G c.644-2949C>G (n.644-2949C>G) c.60C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619392C>T | CA390856096 | SERPINA3 | c.841C>T (p.Gln281Ter) c.187C>T (p.Gln63Ter) c.1804C>T n.58-2949C>T c.644-2949C>T (n.644-2949C>T) c.60C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619393A= | CA2156074129 | SERPINA3 | c.842A= (p.Gln281=) c.188A= (p.Gln63=) c.1805A= n.58-2948A= c.644-2948A= (n.644-2948A=) c.61A= | |
14 | g.94619393A>C | CA7329903 | SERPINA3 | c.842A>C (p.Gln281Pro) c.188A>C (p.Gln63Pro) c.1805A>C n.58-2948A>C c.644-2948A>C (n.644-2948A>C) c.61A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619393A>G | CA390856099 | SERPINA3 | c.842A>G (p.Gln281Arg) c.188A>G (p.Gln63Arg) c.1805A>G n.58-2948A>G c.644-2948A>G (n.644-2948A>G) c.61A>G | |
14 | g.94619393A>T | CA390856101 | SERPINA3 | c.842A>T (p.Gln281Leu) c.188A>T (p.Gln63Leu) c.1805A>T n.58-2948A>T c.644-2948A>T (n.644-2948A>T) c.61A>T | |
14 | g.94619394A= | CA2156074130 | SERPINA3 | c.843A= (p.Gln281=) c.189A= (p.Gln63=) c.1806A= n.58-2947A= c.644-2947A= (n.644-2947A=) c.62A= | |
14 | g.94619394A>C | CA390856103 | SERPINA3 | c.843A>C (p.Gln281His) c.189A>C (p.Gln63His) c.1806A>C n.58-2947A>C c.644-2947A>C (n.644-2947A>C) c.62A>C | |
14 | g.94619394A>G | CA487625275 | SERPINA3 | c.843A>G (p.Gln281=) c.189A>G (p.Gln63=) c.1806A>G n.58-2947A>G c.644-2947A>G (n.644-2947A>G) c.62A>G | gnomAD v4 |
14 | g.94619394A>T | CA7329904 | SERPINA3 | c.843A>T (p.Gln281His) c.189A>T (p.Gln63His) c.1806A>T n.58-2947A>T c.644-2947A>T (n.644-2947A>T) c.62A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619395G>A | CA390856106 | SERPINA3 | c.844G>A (p.Asp282Asn) c.190G>A (p.Asp64Asn) c.1807G>A n.58-2946G>A c.644-2946G>A (n.644-2946G>A) c.63G>A | gnomAD v4 |
14 | g.94619395G>C | CA390856108 | SERPINA3 | c.844G>C (p.Asp282His) c.190G>C (p.Asp64His) c.1807G>C n.58-2946G>C c.644-2946G>C (n.644-2946G>C) c.63G>C | |
14 | g.94619395G>T | CA390856110 | SERPINA3 | c.844G>T (p.Asp282Tyr) c.190G>T (p.Asp64Tyr) c.1807G>T n.58-2946G>T c.644-2946G>T (n.644-2946G>T) c.63G>T | gnomAD v4 |
14 | g.94619396A>C | CA390856116 | SERPINA3 | c.845A>C (p.Asp282Ala) c.191A>C (p.Asp64Ala) c.1808A>C n.58-2945A>C c.644-2945A>C (n.644-2945A>C) c.64A>C | |
14 | g.94619396A>G | CA390856114 | SERPINA3 | c.845A>G (p.Asp282Gly) c.191A>G (p.Asp64Gly) c.1808A>G n.58-2945A>G c.644-2945A>G (n.644-2945A>G) c.64A>G | |
14 | g.94619396A>T | CA390856112 | SERPINA3 | c.845A>T (p.Asp282Val) c.191A>T (p.Asp64Val) c.1808A>T n.58-2945A>T c.644-2945A>T (n.644-2945A>T) c.64A>T | |
14 | g.94619397C>A | CA390856118 | SERPINA3 | c.846C>A (p.Asp282Glu) c.192C>A (p.Asp64Glu) c.1809C>A n.58-2944C>A c.644-2944C>A (n.644-2944C>A) c.65C>A | |
14 | g.94619397C>G | CA390856120 | SERPINA3 | c.846C>G (p.Asp282Glu) c.192C>G (p.Asp64Glu) c.1809C>G n.58-2944C>G c.644-2944C>G (n.644-2944C>G) c.65C>G | |
14 | g.94619397C>T | CA487625276 | SERPINA3 | c.846C>T (p.Asp282=) c.192C>T (p.Asp64=) c.1809C>T n.58-2944C>T c.644-2944C>T (n.644-2944C>T) c.65C>T | |
14 | g.94619398A>C | CA390856122 | SERPINA3 | c.847A>C (p.Lys283Gln) c.193A>C (p.Lys65Gln) c.1810A>C n.58-2943A>C c.644-2943A>C (n.644-2943A>C) c.66A>C | |
14 | g.94619398A>G | CA390856124 | SERPINA3 | c.847A>G (p.Lys283Glu) c.193A>G (p.Lys65Glu) c.1810A>G n.58-2943A>G c.644-2943A>G (n.644-2943A>G) c.66A>G | gnomAD v4 |
14 | g.94619398A>T | CA390856126 | SERPINA3 | c.847A>T (p.Lys283Ter) c.193A>T (p.Lys65Ter) c.1810A>T n.58-2943A>T c.644-2943A>T (n.644-2943A>T) c.66A>T | |
14 | g.94619399A>C | CA390856128 | SERPINA3 | c.848A>C (p.Lys283Thr) c.194A>C (p.Lys65Thr) c.1811A>C n.58-2942A>C c.644-2942A>C (n.644-2942A>C) c.67A>C | |
14 | g.94619399A>G | CA390856130 | SERPINA3 | c.848A>G (p.Lys283Arg) c.194A>G (p.Lys65Arg) c.1811A>G n.58-2942A>G c.644-2942A>G (n.644-2942A>G) c.67A>G | |
14 | g.94619399A>T | CA390856132 | SERPINA3 | c.848A>T (p.Lys283Met) c.194A>T (p.Lys65Met) c.1811A>T n.58-2942A>T c.644-2942A>T (n.644-2942A>T) c.67A>T | |
14 | g.94619400G>A | CA487625277 | SERPINA3 | c.849G>A (p.Lys283=) c.195G>A (p.Lys65=) c.1812G>A n.58-2941G>A c.644-2941G>A (n.644-2941G>A) c.68G>A | |
14 | g.94619400G>C | CA390856134 | SERPINA3 | c.849G>C (p.Lys283Asn) c.195G>C (p.Lys65Asn) c.1812G>C n.58-2941G>C c.644-2941G>C (n.644-2941G>C) c.68G>C | |
14 | g.94619400G>T | CA390856136 | SERPINA3 | c.849G>T (p.Lys283Asn) c.195G>T (p.Lys65Asn) c.1812G>T n.58-2941G>T c.644-2941G>T (n.644-2941G>T) c.68G>T | |
14 | g.94619401A= | CA2156074131 | SERPINA3 | c.850A= (p.Met284=) c.196A= (p.Met66=) c.1813A= n.58-2940A= c.644-2940A= (n.644-2940A=) c.69A= | |
14 | g.94619401A>C | CA390856138 | SERPINA3 | c.850A>C (p.Met284Leu) c.196A>C (p.Met66Leu) c.1813A>C n.58-2940A>C c.644-2940A>C (n.644-2940A>C) c.69A>C | |
14 | g.94619401A>G | CA390856140 | SERPINA3 | c.850A>G (p.Met284Val) c.196A>G (p.Met66Val) c.1813A>G n.58-2940A>G c.644-2940A>G (n.644-2940A>G) c.69A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619401A>T | CA390856142 | SERPINA3 | c.850A>T (p.Met284Leu) c.196A>T (p.Met66Leu) c.1813A>T n.58-2940A>T c.644-2940A>T (n.644-2940A>T) c.69A>T | |
14 | g.94619402T>A | CA390856147 | SERPINA3 | c.851T>A (p.Met284Lys) c.197T>A (p.Met66Lys) c.1814T>A n.58-2939T>A c.644-2939T>A (n.644-2939T>A) c.70T>A | |
14 | g.94619402T>C | CA390856149 | SERPINA3 | c.851T>C (p.Met284Thr) c.197T>C (p.Met66Thr) c.1814T>C n.58-2939T>C c.644-2939T>C (n.644-2939T>C) c.70T>C | |
14 | g.94619402T>G | CA390856145 | SERPINA3 | c.851T>G (p.Met284Arg) c.197T>G (p.Met66Arg) c.1814T>G n.58-2939T>G c.644-2939T>G (n.644-2939T>G) c.70T>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619402T= | CA2156074132 | SERPINA3 | c.851T= (p.Met284=) c.197T= (p.Met66=) c.1814T= n.58-2939T= c.644-2939T= (n.644-2939T=) c.70T= | |
14 | g.94619403G>A | CA390856151 | SERPINA3 | c.852G>A (p.Met284Ile) c.198G>A (p.Met66Ile) c.1815G>A n.58-2938G>A c.644-2938G>A (n.644-2938G>A) c.71G>A | COSMIC COSMIC |
14 | g.94619403G>C | CA390856153 | SERPINA3 | c.852G>C (p.Met284Ile) c.198G>C (p.Met66Ile) c.1815G>C n.58-2938G>C c.644-2938G>C (n.644-2938G>C) c.71G>C | |
14 | g.94619403G>T | CA390856155 | SERPINA3 | c.852G>T (p.Met284Ile) c.198G>T (p.Met66Ile) c.1815G>T n.58-2938G>T c.644-2938G>T (n.644-2938G>T) c.71G>T | |
14 | g.94619404G>A | CA390856157 | SERPINA3 | c.853G>A (p.Glu285Lys) c.199G>A (p.Glu67Lys) c.1816G>A n.58-2937G>A c.644-2937G>A (n.644-2937G>A) c.72G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619404G>C | CA390856159 | SERPINA3 | c.853G>C (p.Glu285Gln) c.199G>C (p.Glu67Gln) c.1816G>C n.58-2937G>C c.644-2937G>C (n.644-2937G>C) c.72G>C | COSMIC COSMIC |
14 | g.94619404G= | CA2156074133 | SERPINA3 | c.853G= (p.Glu285=) c.199G= (p.Glu67=) c.1816G= n.58-2937G= c.644-2937G= (n.644-2937G=) c.72G= | |
14 | g.94619404G>T | CA390856161 | SERPINA3 | c.853G>T (p.Glu285Ter) c.199G>T (p.Glu67Ter) c.1816G>T n.58-2937G>T c.644-2937G>T (n.644-2937G>T) c.72G>T | |
14 | g.94619405A>C | CA390856162 | SERPINA3 | c.854A>C (p.Glu285Ala) c.200A>C (p.Glu67Ala) c.1817A>C n.58-2936A>C c.644-2936A>C (n.644-2936A>C) c.73A>C | |
14 | g.94619405A>G | CA390856164 | SERPINA3 | c.854A>G (p.Glu285Gly) c.200A>G (p.Glu67Gly) c.1817A>G n.58-2936A>G c.644-2936A>G (n.644-2936A>G) c.73A>G | |
14 | g.94619405A>T | CA390856166 | SERPINA3 | c.854A>T (p.Glu285Val) c.200A>T (p.Glu67Val) c.1817A>T n.58-2936A>T c.644-2936A>T (n.644-2936A>T) c.73A>T | |
14 | g.94619406G>A | CA7329905 | SERPINA3 | c.855G>A (p.Glu285=) c.201G>A (p.Glu67=) c.1818G>A n.58-2935G>A c.644-2935G>A (n.644-2935G>A) c.74G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619406G>C | CA390856169 | SERPINA3 | c.855G>C (p.Glu285Asp) c.201G>C (p.Glu67Asp) c.1818G>C n.58-2935G>C c.644-2935G>C (n.644-2935G>C) c.74G>C | |
14 | g.94619406G= | CA2156074134 | SERPINA3 | c.855G= (p.Glu285=) c.201G= (p.Glu67=) c.1818G= n.58-2935G= c.644-2935G= (n.644-2935G=) c.74G= | |
14 | g.94619406G>T | CA390856171 | SERPINA3 | c.855G>T (p.Glu285Asp) c.201G>T (p.Glu67Asp) c.1818G>T n.58-2935G>T c.644-2935G>T (n.644-2935G>T) c.74G>T | |
14 | g.94619407G>A | CA390856178 | SERPINA3 | c.856G>A (p.Glu286Lys) c.202G>A (p.Glu68Lys) c.1819G>A n.58-2934G>A c.644-2934G>A (n.644-2934G>A) c.75G>A | gnomAD v4 |
14 | g.94619407G>C | CA390856175 | SERPINA3 | c.856G>C (p.Glu286Gln) c.202G>C (p.Glu68Gln) c.1819G>C n.58-2934G>C c.644-2934G>C (n.644-2934G>C) c.75G>C | |
14 | g.94619407G>T | CA390856176 | SERPINA3 | c.856G>T (p.Glu286Ter) c.202G>T (p.Glu68Ter) c.1819G>T n.58-2934G>T c.644-2934G>T (n.644-2934G>T) c.75G>T | |
14 | g.94619408A= | CA2156074135 | SERPINA3 | c.857A= (p.Glu286=) c.203A= (p.Glu68=) c.1820A= n.58-2933A= c.644-2933A= (n.644-2933A=) c.76A= | |
14 | g.94619408A>C | CA390856180 | SERPINA3 | c.857A>C (p.Glu286Ala) c.203A>C (p.Glu68Ala) c.1820A>C n.58-2933A>C c.644-2933A>C (n.644-2933A>C) c.76A>C | |
14 | g.94619408A>G | CA390856181 | SERPINA3 | c.857A>G (p.Glu286Gly) c.203A>G (p.Glu68Gly) c.1820A>G n.58-2933A>G c.644-2933A>G (n.644-2933A>G) c.76A>G | |
14 | g.94619408A>T | CA265885192 | SERPINA3 | c.857A>T (p.Glu286Val) c.203A>T (p.Glu68Val) c.1820A>T n.58-2933A>T c.644-2933A>T (n.644-2933A>T) c.76A>T | dbSNP |
14 | g.94619409A>C | CA390856183 | SERPINA3 | c.858A>C (p.Glu286Asp) c.204A>C (p.Glu68Asp) c.1821A>C n.58-2932A>C c.644-2932A>C (n.644-2932A>C) c.77A>C | |
14 | g.94619409A>G | CA487625278 | SERPINA3 | c.858A>G (p.Glu286=) c.204A>G (p.Glu68=) c.1821A>G n.58-2932A>G c.644-2932A>G (n.644-2932A>G) c.77A>G | |
14 | g.94619409A>T | CA390856185 | SERPINA3 | c.858A>T (p.Glu286Asp) c.204A>T (p.Glu68Asp) c.1821A>T n.58-2932A>T c.644-2932A>T (n.644-2932A>T) c.77A>T | |
14 | g.94619410G>A | CA390856188 | SERPINA3 | c.859G>A (p.Val287Met) c.205G>A (p.Val69Met) c.1822G>A n.58-2931G>A c.644-2931G>A (n.644-2931G>A) c.78G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619410G>C | CA390856190 | SERPINA3 | c.859G>C (p.Val287Leu) c.205G>C (p.Val69Leu) c.1822G>C n.58-2931G>C c.644-2931G>C (n.644-2931G>C) c.78G>C | |
14 | g.94619410G= | CA2156074136 | SERPINA3 | c.859G= (p.Val287=) c.205G= (p.Val69=) c.1822G= n.58-2931G= c.644-2931G= (n.644-2931G=) c.78G= | |
14 | g.94619410G>T | CA390856191 | SERPINA3 | c.859G>T (p.Val287Leu) c.205G>T (p.Val69Leu) c.1822G>T n.58-2931G>T c.644-2931G>T (n.644-2931G>T) c.78G>T | |
14 | g.94619411T>A | CA390856194 | SERPINA3 | c.860T>A (p.Val287Glu) c.206T>A (p.Val69Glu) c.1823T>A n.58-2930T>A c.644-2930T>A (n.644-2930T>A) c.79T>A | |
14 | g.94619411T>C | CA390856196 | SERPINA3 | c.860T>C (p.Val287Ala) c.206T>C (p.Val69Ala) c.1823T>C n.58-2930T>C c.644-2930T>C (n.644-2930T>C) c.79T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619411T>G | CA390856197 | SERPINA3 | c.860T>G (p.Val287Gly) c.206T>G (p.Val69Gly) c.1823T>G n.58-2930T>G c.644-2930T>G (n.644-2930T>G) c.79T>G | dbSNP |
14 | g.94619411T= | CA2156074137 | SERPINA3 | c.860T= (p.Val287=) c.206T= (p.Val69=) c.1823T= n.58-2930T= c.644-2930T= (n.644-2930T=) c.79T= | |
14 | g.94619412G>A | CA265885200 | SERPINA3 | c.861G>A (p.Val287=) c.207G>A (p.Val69=) c.1824G>A n.58-2929G>A c.644-2929G>A (n.644-2929G>A) c.80G>A | dbSNP gnomAD v4 COSMIC COSMIC |
14 | g.94619412G>C | CA487625279 | SERPINA3 | c.861G>C (p.Val287=) c.207G>C (p.Val69=) c.1824G>C n.58-2929G>C c.644-2929G>C (n.644-2929G>C) c.80G>C | |
14 | g.94619412G= | CA2156074138 | SERPINA3 | c.861G= (p.Val287=) c.207G= (p.Val69=) c.1824G= n.58-2929G= c.644-2929G= (n.644-2929G=) c.80G= | |
14 | g.94619412G>T | CA487625280 | SERPINA3 | c.861G>T (p.Val287=) c.207G>T (p.Val69=) c.1824G>T n.58-2929G>T c.644-2929G>T (n.644-2929G>T) c.80G>T | |
14 | g.94619413G>A | CA7329906 | SERPINA3 | c.862G>A (p.Glu288Lys) c.208G>A (p.Glu70Lys) c.1825G>A n.58-2928G>A c.644-2928G>A (n.644-2928G>A) c.81G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619413G>C | CA390856202 | SERPINA3 | c.862G>C (p.Glu288Gln) c.208G>C (p.Glu70Gln) c.1825G>C n.58-2928G>C c.644-2928G>C (n.644-2928G>C) c.81G>C | |
14 | g.94619413G= | CA2156074139 | SERPINA3 | c.862G= (p.Glu288=) c.208G= (p.Glu70=) c.1825G= n.58-2928G= c.644-2928G= (n.644-2928G=) c.81G= | |
14 | g.94619413G>T | CA390856200 | SERPINA3 | c.862G>T (p.Glu288Ter) c.208G>T (p.Glu70Ter) c.1825G>T n.58-2928G>T c.644-2928G>T (n.644-2928G>T) c.81G>T | |
14 | g.94619414A= | CA2156074140 | SERPINA3 | c.863A= (p.Glu288=) c.209A= (p.Glu70=) c.1826A= n.58-2927A= c.644-2927A= (n.644-2927A=) c.82A= | |
14 | g.94619414A>C | CA390856205 | SERPINA3 | c.863A>C (p.Glu288Ala) c.209A>C (p.Glu70Ala) c.1826A>C n.58-2927A>C c.644-2927A>C (n.644-2927A>C) c.82A>C | |
14 | g.94619414A>G | CA265885204 | SERPINA3 | c.863A>G (p.Glu288Gly) c.209A>G (p.Glu70Gly) c.1826A>G n.58-2927A>G c.644-2927A>G (n.644-2927A>G) c.82A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619414A>T | CA390856208 | SERPINA3 | c.863A>T (p.Glu288Val) c.209A>T (p.Glu70Val) c.1826A>T n.58-2927A>T c.644-2927A>T (n.644-2927A>T) c.82A>T | |
14 | g.94619415A>C | CA390856210 | SERPINA3 | c.864A>C (p.Glu288Asp) c.210A>C (p.Glu70Asp) c.1827A>C n.58-2926A>C c.644-2926A>C (n.644-2926A>C) c.83A>C | |
14 | g.94619415A>G | CA487625281 | SERPINA3 | c.864A>G (p.Glu288=) c.210A>G (p.Glu70=) c.1827A>G n.58-2926A>G c.644-2926A>G (n.644-2926A>G) c.83A>G | |
14 | g.94619415A>T | CA390856212 | SERPINA3 | c.864A>T (p.Glu288Asp) c.210A>T (p.Glu70Asp) c.1827A>T n.58-2926A>T c.644-2926A>T (n.644-2926A>T) c.83A>T | gnomAD v4 |
14 | g.94619416G>A | CA390856214 | SERPINA3 | c.865G>A (p.Ala289Thr) c.211G>A (p.Ala71Thr) c.1828G>A n.58-2925G>A c.644-2925G>A (n.644-2925G>A) c.84G>A | gnomAD v4 |
14 | g.94619416G>C | CA390856215 | SERPINA3 | c.865G>C (p.Ala289Pro) c.211G>C (p.Ala71Pro) c.1828G>C n.58-2925G>C c.644-2925G>C (n.644-2925G>C) c.84G>C | |
14 | g.94619416G>T | CA390856218 | SERPINA3 | c.865G>T (p.Ala289Ser) c.211G>T (p.Ala71Ser) c.1828G>T n.58-2925G>T c.644-2925G>T (n.644-2925G>T) c.84G>T | |
14 | g.94619417C>A | CA390856220 | SERPINA3 | c.866C>A (p.Ala289Asp) c.212C>A (p.Ala71Asp) c.1829C>A n.58-2924C>A c.644-2924C>A (n.644-2924C>A) c.85C>A | |
14 | g.94619417C>G | CA390856222 | SERPINA3 | c.866C>G (p.Ala289Gly) c.212C>G (p.Ala71Gly) c.1829C>G n.58-2924C>G c.644-2924C>G (n.644-2924C>G) c.85C>G | |
14 | g.94619417C>T | CA390856224 | SERPINA3 | c.866C>T (p.Ala289Val) c.212C>T (p.Ala71Val) c.1829C>T n.58-2924C>T c.644-2924C>T (n.644-2924C>T) c.85C>T | |
14 | g.94619418C>A | CA487625282 | SERPINA3 | c.867C>A (p.Ala289=) c.213C>A (p.Ala71=) c.1830C>A n.58-2923C>A c.644-2923C>A (n.644-2923C>A) c.86C>A | |
14 | g.94619418C= | CA2156074141 | SERPINA3 | c.867C= (p.Ala289=) c.213C= (p.Ala71=) c.1830C= n.58-2923C= c.644-2923C= (n.644-2923C=) c.86C= | |
14 | g.94619418C>G | CA7329908 | SERPINA3 | c.867C>G (p.Ala289=) c.213C>G (p.Ala71=) c.1830C>G n.58-2923C>G c.644-2923C>G (n.644-2923C>G) c.86C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619418C>T | CA7329907 | SERPINA3 | c.867C>T (p.Ala289=) c.213C>T (p.Ala71=) c.1830C>T n.58-2923C>T c.644-2923C>T (n.644-2923C>T) c.86C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619419A= | CA2156074142 | SERPINA3 | c.868A= (p.Met290=) c.214A= (p.Met72=) c.1831A= n.58-2922A= c.644-2922A= (n.644-2922A=) c.87A= | |
14 | g.94619419A>C | CA265885236 | SERPINA3 | c.868A>C (p.Met290Leu) c.214A>C (p.Met72Leu) c.1831A>C n.58-2922A>C c.644-2922A>C (n.644-2922A>C) c.87A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.94619419A>G | CA390856228 | SERPINA3 | c.868A>G (p.Met290Val) c.214A>G (p.Met72Val) c.1831A>G n.58-2922A>G c.644-2922A>G (n.644-2922A>G) c.87A>G | dbSNP |
14 | g.94619419A>T | CA7329909 | SERPINA3 | c.868A>T (p.Met290Leu) c.214A>T (p.Met72Leu) c.1831A>T n.58-2922A>T c.644-2922A>T (n.644-2922A>T) c.87A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619419_94619420delinsCA | CA645581952 | SERPINA3 | c.868_869delinsCA (p.Met290Gln) c.214_215delinsCA (p.Met72Gln) c.1831_1832delinsCA n.58-2922_58-2921delinsCA c.644-2922_644-2921delinsCA (n.644-2922_644-2921delinsCA) c.87_88delinsCA | COSMIC COSMIC |
14 | g.94619420T>A | CA265885258 | SERPINA3 | c.869T>A (p.Met290Lys) c.215T>A (p.Met72Lys) c.1832T>A n.58-2921T>A c.644-2921T>A (n.644-2921T>A) c.88T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.94619420T>C | CA390856230 | SERPINA3 | c.869T>C (p.Met290Thr) c.215T>C (p.Met72Thr) c.1832T>C n.58-2921T>C c.644-2921T>C (n.644-2921T>C) c.88T>C | |
14 | g.94619420T>G | CA390856232 | SERPINA3 | c.869T>G (p.Met290Arg) c.215T>G (p.Met72Arg) c.1832T>G n.58-2921T>G c.644-2921T>G (n.644-2921T>G) c.88T>G | |
14 | g.94619420T= | CA2156074143 | SERPINA3 | c.869T= (p.Met290=) c.215T= (p.Met72=) c.1832T= n.58-2921T= c.644-2921T= (n.644-2921T=) c.88T= | |
14 | g.94619421G>A | CA390856235 | SERPINA3 | c.870G>A (p.Met290Ile) c.216G>A (p.Met72Ile) c.1833G>A n.58-2920G>A c.644-2920G>A (n.644-2920G>A) c.89G>A | dbSNP |
14 | g.94619421G>C | CA390856236 | SERPINA3 | c.870G>C (p.Met290Ile) c.216G>C (p.Met72Ile) c.1833G>C n.58-2920G>C c.644-2920G>C (n.644-2920G>C) c.89G>C | gnomAD v4 |
14 | g.94619421G= | CA2156074144 | SERPINA3 | c.870G= (p.Met290=) c.216G= (p.Met72=) c.1833G= n.58-2920G= c.644-2920G= (n.644-2920G=) c.89G= | |
14 | g.94619421G>T | CA7329910 | SERPINA3 | c.870G>T (p.Met290Ile) c.216G>T (p.Met72Ile) c.1833G>T n.58-2920G>T c.644-2920G>T (n.644-2920G>T) c.89G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619422C>A | CA390856239 | SERPINA3 | c.871C>A (p.Leu291Met) c.217C>A (p.Leu73Met) c.1834C>A n.58-2919C>A c.644-2919C>A (n.644-2919C>A) c.90C>A | |
14 | g.94619422C= | CA2156074145 | SERPINA3 | c.871C= (p.Leu291=) c.217C= (p.Leu73=) c.1834C= n.58-2919C= c.644-2919C= (n.644-2919C=) c.90C= | |
14 | g.94619422C>G | CA390856241 | SERPINA3 | c.871C>G (p.Leu291Val) c.217C>G (p.Leu73Val) c.1834C>G n.58-2919C>G c.644-2919C>G (n.644-2919C>G) c.90C>G | dbSNP gnomAD v4 |
14 | g.94619422C>T | CA487625283 | SERPINA3 | c.871C>T (p.Leu291=) c.217C>T (p.Leu73=) c.1834C>T n.58-2919C>T c.644-2919C>T (n.644-2919C>T) c.90C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619423T>A | CA390856244 | SERPINA3 | c.872T>A (p.Leu291Gln) c.218T>A (p.Leu73Gln) c.1835T>A n.58-2918T>A c.644-2918T>A (n.644-2918T>A) c.91T>A | |
14 | g.94619423T>C | CA390856245 | SERPINA3 | c.872T>C (p.Leu291Pro) c.218T>C (p.Leu73Pro) c.1835T>C n.58-2918T>C c.644-2918T>C (n.644-2918T>C) c.91T>C | |
14 | g.94619423T>G | CA390856247 | SERPINA3 | c.872T>G (p.Leu291Arg) c.218T>G (p.Leu73Arg) c.1835T>G n.58-2918T>G c.644-2918T>G (n.644-2918T>G) c.91T>G | |
14 | g.94619424G>A | CA487625284 | SERPINA3 | c.873G>A (p.Leu291=) c.219G>A (p.Leu73=) c.1836G>A n.58-2917G>A c.644-2917G>A (n.644-2917G>A) c.92G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619424G>C | CA487625285 | SERPINA3 | c.873G>C (p.Leu291=) c.219G>C (p.Leu73=) c.1836G>C n.58-2917G>C c.644-2917G>C (n.644-2917G>C) c.92G>C | |
14 | g.94619424G= | CA2156074146 | SERPINA3 | c.873G= (p.Leu291=) c.219G= (p.Leu73=) c.1836G= n.58-2917G= c.644-2917G= (n.644-2917G=) c.92G= | |
14 | g.94619424G>T | CA487625286 | SERPINA3 | c.873G>T (p.Leu291=) c.219G>T (p.Leu73=) c.1836G>T n.58-2917G>T c.644-2917G>T (n.644-2917G>T) c.92G>T | |
14 | g.94619425C>A | CA390856249 | SERPINA3 | c.874C>A (p.Leu292Ile) c.220C>A (p.Leu74Ile) c.1837C>A n.58-2916C>A c.644-2916C>A (n.644-2916C>A) c.93C>A | |
14 | g.94619425C= | CA2156074147 | SERPINA3 | c.874C= (p.Leu292=) c.220C= (p.Leu74=) c.1837C= n.58-2916C= c.644-2916C= (n.644-2916C=) c.93C= | |
14 | g.94619425C>G | CA390856251 | SERPINA3 | c.874C>G (p.Leu292Val) c.220C>G (p.Leu74Val) c.1837C>G n.58-2916C>G c.644-2916C>G (n.644-2916C>G) c.93C>G | |
14 | g.94619425C>T | CA390856253 | SERPINA3 | c.874C>T (p.Leu292Phe) c.220C>T (p.Leu74Phe) c.1837C>T n.58-2916C>T c.644-2916C>T (n.644-2916C>T) c.93C>T | dbSNP |
14 | g.94619426T>A | CA390856257 | SERPINA3 | c.875T>A (p.Leu292His) c.221T>A (p.Leu74His) c.1838T>A n.58-2915T>A c.644-2915T>A (n.644-2915T>A) c.94T>A | gnomAD v4 |
14 | g.94619426T>C | CA390856258 | SERPINA3 | c.875T>C (p.Leu292Pro) c.221T>C (p.Leu74Pro) c.1838T>C n.58-2915T>C c.644-2915T>C (n.644-2915T>C) c.94T>C | gnomAD v4 |
14 | g.94619426T>G | CA390856255 | SERPINA3 | c.875T>G (p.Leu292Arg) c.221T>G (p.Leu74Arg) c.1838T>G n.58-2915T>G c.644-2915T>G (n.644-2915T>G) c.94T>G | gnomAD v4 |
14 | g.94619427C>A | CA7329911 | SERPINA3 | c.876C>A (p.Leu292=) c.222C>A (p.Leu74=) c.1839C>A n.58-2914C>A c.644-2914C>A (n.644-2914C>A) c.95C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619427C= | CA2156074148 | SERPINA3 | c.876C= (p.Leu292=) c.222C= (p.Leu74=) c.1839C= n.58-2914C= c.644-2914C= (n.644-2914C=) c.95C= | |
14 | g.94619427C>G | CA487625287 | SERPINA3 | c.876C>G (p.Leu292=) c.222C>G (p.Leu74=) c.1839C>G n.58-2914C>G c.644-2914C>G (n.644-2914C>G) c.95C>G | |
14 | g.94619427C>T | CA487625288 | SERPINA3 | c.876C>T (p.Leu292=) c.222C>T (p.Leu74=) c.1839C>T n.58-2914C>T c.644-2914C>T (n.644-2914C>T) c.95C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619427_94619428insTGG | CA2626330357 | SERPINA3 | c.876_877insTGG (p.Leu292_Pro293insTrp) c.222_223insTGG (p.Leu74_Pro75insTrp) c.1839_1840insTGG n.58-2914_58-2913insTGG c.644-2914_644-2913insTGG (n.644-2914_644-2913insTGG) c.95_96insTGG | gnomAD v4 |
14 | g.94619428C>A | CA390856261 | SERPINA3 | c.877C>A (p.Pro293Thr) c.223C>A (p.Pro75Thr) c.1840C>A n.58-2913C>A c.644-2913C>A (n.644-2913C>A) c.96C>A | |
14 | g.94619428C>G | CA390856263 | SERPINA3 | c.877C>G (p.Pro293Ala) c.223C>G (p.Pro75Ala) c.1840C>G n.58-2913C>G c.644-2913C>G (n.644-2913C>G) c.96C>G | |
14 | g.94619428C>T | CA390856265 | SERPINA3 | c.877C>T (p.Pro293Ser) c.223C>T (p.Pro75Ser) c.1840C>T n.58-2913C>T c.644-2913C>T (n.644-2913C>T) c.96C>T | |
14 | g.94619429C>A | CA390856267 | SERPINA3 | c.878C>A (p.Pro293Gln) c.224C>A (p.Pro75Gln) c.1841C>A n.58-2912C>A c.644-2912C>A (n.644-2912C>A) c.97C>A | |
14 | g.94619429C= | CA2156074149 | SERPINA3 | c.878C= (p.Pro293=) c.224C= (p.Pro75=) c.1841C= n.58-2912C= c.644-2912C= (n.644-2912C=) c.97C= | |
14 | g.94619429C>G | CA390856269 | SERPINA3 | c.878C>G (p.Pro293Arg) c.224C>G (p.Pro75Arg) c.1841C>G n.58-2912C>G c.644-2912C>G (n.644-2912C>G) c.97C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619429C>T | CA390856270 | SERPINA3 | c.878C>T (p.Pro293Leu) c.224C>T (p.Pro75Leu) c.1841C>T n.58-2912C>T c.644-2912C>T (n.644-2912C>T) c.97C>T | |
14 | g.94619430A>C | CA487625291 | SERPINA3 | c.879A>C (p.Pro293=) c.225A>C (p.Pro75=) c.1842A>C n.58-2911A>C c.644-2911A>C (n.644-2911A>C) c.98A>C | gnomAD v4 |
14 | g.94619430A>G | CA487625290 | SERPINA3 | c.879A>G (p.Pro293=) c.225A>G (p.Pro75=) c.1842A>G n.58-2911A>G c.644-2911A>G (n.644-2911A>G) c.98A>G | |
14 | g.94619430A>T | CA487625289 | SERPINA3 | c.879A>T (p.Pro293=) c.225A>T (p.Pro75=) c.1842A>T n.58-2911A>T c.644-2911A>T (n.644-2911A>T) c.98A>T | gnomAD v4 |
14 | g.94619431G>A | CA390856272 | SERPINA3 | c.880G>A (p.Glu294Lys) c.226G>A (p.Glu76Lys) c.1843G>A n.58-2910G>A c.644-2910G>A (n.644-2910G>A) c.99G>A | COSMIC COSMIC |
14 | g.94619431G>C | CA390856274 | SERPINA3 | c.880G>C (p.Glu294Gln) c.226G>C (p.Glu76Gln) c.1843G>C n.58-2910G>C c.644-2910G>C (n.644-2910G>C) c.99G>C | |
14 | g.94619431G>T | CA390856276 | SERPINA3 | c.880G>T (p.Glu294Ter) c.226G>T (p.Glu76Ter) c.1843G>T n.58-2910G>T c.644-2910G>T (n.644-2910G>T) c.99G>T | |
14 | g.94619432A>C | CA390856278 | SERPINA3 | c.881A>C (p.Glu294Ala) c.227A>C (p.Glu76Ala) c.1844A>C n.58-2909A>C c.644-2909A>C (n.644-2909A>C) c.100A>C | |
14 | g.94619432A>G | CA390856279 | SERPINA3 | c.881A>G (p.Glu294Gly) c.227A>G (p.Glu76Gly) c.1844A>G n.58-2909A>G c.644-2909A>G (n.644-2909A>G) c.100A>G | gnomAD v4 |
14 | g.94619432A>T | CA390856280 | SERPINA3 | c.881A>T (p.Glu294Val) c.227A>T (p.Glu76Val) c.1844A>T n.58-2909A>T c.644-2909A>T (n.644-2909A>T) c.100A>T | |
14 | g.94619433G>A | CA487625292 | SERPINA3 | c.882G>A (p.Glu294=) c.228G>A (p.Glu76=) c.1845G>A n.58-2908G>A c.644-2908G>A (n.644-2908G>A) c.101G>A | |
14 | g.94619433G>C | CA390856284 | SERPINA3 | c.882G>C (p.Glu294Asp) c.228G>C (p.Glu76Asp) c.1845G>C n.58-2908G>C c.644-2908G>C (n.644-2908G>C) c.101G>C | |
14 | g.94619433G>T | CA390856283 | SERPINA3 | c.882G>T (p.Glu294Asp) c.228G>T (p.Glu76Asp) c.1845G>T n.58-2908G>T c.644-2908G>T (n.644-2908G>T) c.101G>T | |
14 | g.94619434A>C | CA390856286 | SERPINA3 | c.883A>C (p.Thr295Pro) c.229A>C (p.Thr77Pro) c.1846A>C n.58-2907A>C c.644-2907A>C (n.644-2907A>C) c.102A>C | |
14 | g.94619434A>G | CA390856288 | SERPINA3 | c.883A>G (p.Thr295Ala) c.229A>G (p.Thr77Ala) c.1846A>G n.58-2907A>G c.644-2907A>G (n.644-2907A>G) c.102A>G | |
14 | g.94619434A>T | CA390856290 | SERPINA3 | c.883A>T (p.Thr295Ser) c.229A>T (p.Thr77Ser) c.1846A>T n.58-2907A>T c.644-2907A>T (n.644-2907A>T) c.102A>T | |
14 | g.94619435C>A | CA390856292 | SERPINA3 | c.884C>A (p.Thr295Asn) c.230C>A (p.Thr77Asn) c.1847C>A n.58-2906C>A c.644-2906C>A (n.644-2906C>A) c.103C>A | dbSNP gnomAD v4 |
14 | g.94619435C= | CA2156074150 | SERPINA3 | c.884C= (p.Thr295=) c.230C= (p.Thr77=) c.1847C= n.58-2906C= c.644-2906C= (n.644-2906C=) c.103C= | |
14 | g.94619435C>G | CA390856294 | SERPINA3 | c.884C>G (p.Thr295Ser) c.230C>G (p.Thr77Ser) c.1847C>G n.58-2906C>G c.644-2906C>G (n.644-2906C>G) c.103C>G | |
14 | g.94619435C>T | CA390856296 | SERPINA3 | c.884C>T (p.Thr295Ile) c.230C>T (p.Thr77Ile) c.1847C>T n.58-2906C>T c.644-2906C>T (n.644-2906C>T) c.103C>T | gnomAD v4 |
14 | g.94619436C>A | CA487625293 | SERPINA3 | c.885C>A (p.Thr295=) c.231C>A (p.Thr77=) c.1848C>A n.58-2905C>A c.644-2905C>A (n.644-2905C>A) c.104C>A | gnomAD v4 |
14 | g.94619436C= | CA2156074151 | SERPINA3 | c.885C= (p.Thr295=) c.231C= (p.Thr77=) c.1848C= n.58-2905C= c.644-2905C= (n.644-2905C=) c.104C= | |
14 | g.94619436C>G | CA487625294 | SERPINA3 | c.885C>G (p.Thr295=) c.231C>G (p.Thr77=) c.1848C>G n.58-2905C>G c.644-2905C>G (n.644-2905C>G) c.104C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619436C>T | CA7329912 | SERPINA3 | c.885C>T (p.Thr295=) c.231C>T (p.Thr77=) c.1848C>T n.58-2905C>T c.644-2905C>T (n.644-2905C>T) c.104C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.94619437C>A | CA390856299 | SERPINA3 | c.886C>A (p.Leu296Met) c.232C>A (p.Leu78Met) c.1849C>A n.58-2904C>A c.644-2904C>A (n.644-2904C>A) c.105C>A | |
14 | g.94619437C>G | CA390856301 | SERPINA3 | c.886C>G (p.Leu296Val) c.232C>G (p.Leu78Val) c.1849C>G n.58-2904C>G c.644-2904C>G (n.644-2904C>G) c.105C>G | |
14 | g.94619437C>T | CA487625295 | SERPINA3 | c.886C>T (p.Leu296=) c.232C>T (p.Leu78=) c.1849C>T n.58-2904C>T c.644-2904C>T (n.644-2904C>T) c.105C>T | |
14 | g.94619438T>A | CA390856303 | SERPINA3 | c.887T>A (p.Leu296Gln) c.233T>A (p.Leu78Gln) c.1850T>A n.58-2903T>A c.644-2903T>A (n.644-2903T>A) c.106T>A | |
14 | g.94619438T>C | CA390856304 | SERPINA3 | c.887T>C (p.Leu296Pro) c.233T>C (p.Leu78Pro) c.1850T>C n.58-2903T>C c.644-2903T>C (n.644-2903T>C) c.106T>C | |
14 | g.94619438T>G | CA390856306 | SERPINA3 | c.887T>G (p.Leu296Arg) c.233T>G (p.Leu78Arg) c.1850T>G n.58-2903T>G c.644-2903T>G (n.644-2903T>G) c.106T>G | |
14 | g.94619439G>A | CA487625296 | SERPINA3 | c.888G>A (p.Leu296=) c.234G>A (p.Leu78=) c.1851G>A n.58-2902G>A c.644-2902G>A (n.644-2902G>A) c.107G>A | |
14 | g.94619439G>C | CA487625297 | SERPINA3 | c.888G>C (p.Leu296=) c.234G>C (p.Leu78=) c.1851G>C n.58-2902G>C c.644-2902G>C (n.644-2902G>C) c.107G>C | |
14 | g.94619439G>T | CA487625298 | SERPINA3 | c.888G>T (p.Leu296=) c.234G>T (p.Leu78=) c.1851G>T n.58-2902G>T c.644-2902G>T (n.644-2902G>T) c.107G>T | |
14 | g.94619440A>C | CA390856308 | SERPINA3 | c.889A>C (p.Lys297Gln) c.235A>C (p.Lys79Gln) c.1852A>C n.58-2901A>C c.644-2901A>C (n.644-2901A>C) c.108A>C | |
14 | g.94619440A>G | CA390856312 | SERPINA3 | c.889A>G (p.Lys297Glu) c.235A>G (p.Lys79Glu) c.1852A>G n.58-2901A>G c.644-2901A>G (n.644-2901A>G) c.108A>G | |
14 | g.94619440A>T | CA390856309 | SERPINA3 | c.889A>T (p.Lys297Ter) c.235A>T (p.Lys79Ter) c.1852A>T n.58-2901A>T c.644-2901A>T (n.644-2901A>T) c.108A>T | |
14 | g.94619441A>C | CA390856315 | SERPINA3 | c.890A>C (p.Lys297Thr) c.236A>C (p.Lys79Thr) c.1853A>C n.58-2900A>C c.644-2900A>C (n.644-2900A>C) c.109A>C | |
14 | g.94619441A>G | CA390856318 | SERPINA3 | c.890A>G (p.Lys297Arg) c.236A>G (p.Lys79Arg) c.1853A>G n.58-2900A>G c.644-2900A>G (n.644-2900A>G) c.109A>G | |
14 | g.94619441A>T | CA390856317 | SERPINA3 | c.890A>T (p.Lys297Met) c.236A>T (p.Lys79Met) c.1853A>T n.58-2900A>T c.644-2900A>T (n.644-2900A>T) c.109A>T | |
14 | g.94619442G>A | CA487625299 | SERPINA3 | c.891G>A (p.Lys297=) c.237G>A (p.Lys79=) c.1854G>A n.58-2899G>A c.644-2899G>A (n.644-2899G>A) c.110G>A | gnomAD v4 |
14 | g.94619442G>C | CA7329913 | SERPINA3 | c.891G>C (p.Lys297Asn) c.237G>C (p.Lys79Asn) c.1854G>C n.58-2899G>C c.644-2899G>C (n.644-2899G>C) c.110G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619442G= | CA2156074152 | SERPINA3 | c.891G= (p.Lys297=) c.237G= (p.Lys79=) c.1854G= n.58-2899G= c.644-2899G= (n.644-2899G=) c.110G= | |
14 | g.94619442G>T | CA390856322 | SERPINA3 | c.891G>T (p.Lys297Asn) c.237G>T (p.Lys79Asn) c.1854G>T n.58-2899G>T c.644-2899G>T (n.644-2899G>T) c.110G>T | |
14 | g.94619443C>A | CA7329915 | SERPINA3 | c.892C>A (p.Arg298=) c.238C>A (p.Arg80=) c.1855C>A n.58-2898C>A c.644-2898C>A (n.644-2898C>A) c.111C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619443C= | CA2156074153 | SERPINA3 | c.892C= (p.Arg298=) c.238C= (p.Arg80=) c.1855C= n.58-2898C= c.644-2898C= (n.644-2898C=) c.111C= | |
14 | g.94619443C>G | CA390856326 | SERPINA3 | c.892C>G (p.Arg298Gly) c.238C>G (p.Arg80Gly) c.1855C>G n.58-2898C>G c.644-2898C>G (n.644-2898C>G) c.111C>G | |
14 | g.94619443C>T | CA7329914 | SERPINA3 | c.892C>T (p.Arg298Trp) c.238C>T (p.Arg80Trp) c.1855C>T n.58-2898C>T c.644-2898C>T (n.644-2898C>T) c.111C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.94619444G>A | CA7329916 | SERPINA3 | c.893G>A (p.Arg298Gln) c.239G>A (p.Arg80Gln) c.1856G>A n.58-2897G>A c.644-2897G>A (n.644-2897G>A) c.112G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619444G>C | CA390856331 | SERPINA3 | c.893G>C (p.Arg298Pro) c.239G>C (p.Arg80Pro) c.1856G>C n.58-2897G>C c.644-2897G>C (n.644-2897G>C) c.112G>C | |
14 | g.94619444G= | CA2156074154 | SERPINA3 | c.893G= (p.Arg298=) c.239G= (p.Arg80=) c.1856G= n.58-2897G= c.644-2897G= (n.644-2897G=) c.112G= | |
14 | g.94619444G>T | CA390856329 | SERPINA3 | c.893G>T (p.Arg298Leu) c.239G>T (p.Arg80Leu) c.1856G>T n.58-2897G>T c.644-2897G>T (n.644-2897G>T) c.112G>T | |
14 | g.94619445G>A | CA487625300 | SERPINA3 | c.894G>A (p.Arg298=) c.240G>A (p.Arg80=) c.1857G>A n.58-2896G>A c.644-2896G>A (n.644-2896G>A) c.113G>A | |
14 | g.94619445G>C | CA487625301 | SERPINA3 | c.894G>C (p.Arg298=) c.240G>C (p.Arg80=) c.1857G>C n.58-2896G>C c.644-2896G>C (n.644-2896G>C) c.113G>C | dbSNP |
14 | g.94619445G= | CA2156074155 | SERPINA3 | c.894G= (p.Arg298=) c.240G= (p.Arg80=) c.1857G= n.58-2896G= c.644-2896G= (n.644-2896G=) c.113G= | |
14 | g.94619445G>T | CA487625302 | SERPINA3 | c.894G>T (p.Arg298=) c.240G>T (p.Arg80=) c.1857G>T n.58-2896G>T c.644-2896G>T (n.644-2896G>T) c.113G>T | gnomAD v4 |
14 | g.94619446T>A | CA390856333 | SERPINA3 | c.895T>A (p.Trp299Arg) c.241T>A (p.Trp81Arg) c.1858T>A n.58-2895T>A c.644-2895T>A (n.644-2895T>A) c.114T>A | gnomAD v4 |
14 | g.94619446T>C | CA390856334 | SERPINA3 | c.895T>C (p.Trp299Arg) c.241T>C (p.Trp81Arg) c.1858T>C n.58-2895T>C c.644-2895T>C (n.644-2895T>C) c.114T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619446T>G | CA390856336 | SERPINA3 | c.895T>G (p.Trp299Gly) c.241T>G (p.Trp81Gly) c.1858T>G n.58-2895T>G c.644-2895T>G (n.644-2895T>G) c.114T>G | dbSNP |
14 | g.94619446T= | CA2156074156 | SERPINA3 | c.895T= (p.Trp299=) c.241T= (p.Trp81=) c.1858T= n.58-2895T= c.644-2895T= (n.644-2895T=) c.114T= | |
14 | g.94619447G>A | CA390856337 | SERPINA3 | c.896G>A (p.Trp299Ter) c.242G>A (p.Trp81Ter) c.1859G>A n.58-2894G>A c.644-2894G>A (n.644-2894G>A) c.115G>A | COSMIC COSMIC |
14 | g.94619447G>C | CA390856339 | SERPINA3 | c.896G>C (p.Trp299Ser) c.242G>C (p.Trp81Ser) c.1859G>C n.58-2894G>C c.644-2894G>C (n.644-2894G>C) c.115G>C | |
14 | g.94619447G>T | CA390856341 | SERPINA3 | c.896G>T (p.Trp299Leu) c.242G>T (p.Trp81Leu) c.1859G>T n.58-2894G>T c.644-2894G>T (n.644-2894G>T) c.115G>T | |
14 | g.94619447_94619449delinsGGA | CA2156074157 | SERPINA3 | c.896_898delinsGGA (p.Trp299=) c.242_244delinsGGA (p.Trp81=) c.1859_1861delinsGGA n.58-2894_58-2892delinsGGA c.644-2894_644-2892delinsGGA (n.644-2894_644-2892delinsGGA) c.115_117delinsGGA | |
14 | g.94619448G>A | CA390856343 | SERPINA3 | c.897G>A (p.Trp299Ter) c.243G>A (p.Trp81Ter) c.1860G>A n.58-2893G>A c.644-2893G>A (n.644-2893G>A) c.116G>A | gnomAD v4 |
14 | g.94619448G>C | CA390856345 | SERPINA3 | c.897G>C (p.Trp299Cys) c.243G>C (p.Trp81Cys) c.1860G>C n.58-2893G>C c.644-2893G>C (n.644-2893G>C) c.116G>C | |
14 | g.94619448G>T | CA390856347 | SERPINA3 | c.897G>T (p.Trp299Cys) c.243G>T (p.Trp81Cys) c.1860G>T n.58-2893G>T c.644-2893G>T (n.644-2893G>T) c.116G>T | |
14 | g.94619452_94619453del | CA710133485 | SERPINA3 | c.901_902del (p.Asp301LeufsTer9) c.247_248del (p.Asp83LeufsTer9) c.1864_1865del c.901_902del (p.Asp301LeufsTer?) n.58-2889_58-2888del c.644-2889_644-2888del (n.644-2889_644-2888del) c.120_121del | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619450_94619453del | CA2626330358 | SERPINA3 | c.899_902del (p.Arg300ThrfsTer8) c.245_248del (p.Arg82ThrfsTer8) c.1862_1865del c.899_902del (p.Arg300ThrfsTer?) n.58-2891_58-2888del c.644-2891_644-2888del (n.644-2891_644-2888del) c.118_121del | gnomAD v4 |
14 | g.94619449A>C | CA487625303 | SERPINA3 | c.898A>C (p.Arg300=) c.244A>C (p.Arg82=) c.1861A>C n.58-2892A>C c.644-2892A>C (n.644-2892A>C) c.117A>C | |
14 | g.94619449A>G | CA390856349 | SERPINA3 | c.898A>G (p.Arg300Gly) c.244A>G (p.Arg82Gly) c.1861A>G n.58-2892A>G c.644-2892A>G (n.644-2892A>G) c.117A>G | |
14 | g.94619449A>T | CA390856350 | SERPINA3 | c.898A>T (p.Arg300Ter) c.244A>T (p.Arg82Ter) c.1861A>T n.58-2892A>T c.644-2892A>T (n.644-2892A>T) c.117A>T | |
14 | g.94619450G>A | CA390856355 | SERPINA3 | c.899G>A (p.Arg300Lys) c.245G>A (p.Arg82Lys) c.1862G>A n.58-2891G>A c.644-2891G>A (n.644-2891G>A) c.118G>A | COSMIC COSMIC |
14 | g.94619450G>C | CA390856352 | SERPINA3 | c.899G>C (p.Arg300Thr) c.245G>C (p.Arg82Thr) c.1862G>C n.58-2891G>C c.644-2891G>C (n.644-2891G>C) c.118G>C | |
14 | g.94619450G>T | CA390856354 | SERPINA3 | c.899G>T (p.Arg300Ile) c.245G>T (p.Arg82Ile) c.1862G>T n.58-2891G>T c.644-2891G>T (n.644-2891G>T) c.118G>T | dbSNP gnomAD v4 |
14 | g.94619451A>C | CA390856356 | SERPINA3 | c.900A>C (p.Arg300Ser) c.246A>C (p.Arg82Ser) c.1863A>C n.58-2890A>C c.644-2890A>C (n.644-2890A>C) c.119A>C | |
14 | g.94619451A>G | CA487625304 | SERPINA3 | c.900A>G (p.Arg300=) c.246A>G (p.Arg82=) c.1863A>G n.58-2890A>G c.644-2890A>G (n.644-2890A>G) c.119A>G | |
14 | g.94619451A>T | CA390856358 | SERPINA3 | c.900A>T (p.Arg300Ser) c.246A>T (p.Arg82Ser) c.1863A>T n.58-2890A>T c.644-2890A>T (n.644-2890A>T) c.119A>T | |
14 | g.94619452G>A | CA390856360 | SERPINA3 | c.901G>A (p.Asp301Asn) c.247G>A (p.Asp83Asn) c.1864G>A n.58-2889G>A c.644-2889G>A (n.644-2889G>A) c.120G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619452G>C | CA390856361 | SERPINA3 | c.901G>C (p.Asp301His) c.247G>C (p.Asp83His) c.1864G>C n.58-2889G>C c.644-2889G>C (n.644-2889G>C) c.120G>C | gnomAD v4 |
14 | g.94619452G= | CA2156074158 | SERPINA3 | c.901G= (p.Asp301=) c.247G= (p.Asp83=) c.1864G= n.58-2889G= c.644-2889G= (n.644-2889G=) c.120G= | |
14 | g.94619452G>T | CA390856363 | SERPINA3 | c.901G>T (p.Asp301Tyr) c.247G>T (p.Asp83Tyr) c.1864G>T n.58-2889G>T c.644-2889G>T (n.644-2889G>T) c.120G>T | |
14 | g.94619453A= | CA2156074159 | SERPINA3 | c.902A= (p.Asp301=) c.248A= (p.Asp83=) c.1865A= n.58-2888A= c.644-2888A= (n.644-2888A=) c.121A= | |
14 | g.94619453A>C | CA390856365 | SERPINA3 | c.902A>C (p.Asp301Ala) c.248A>C (p.Asp83Ala) c.1865A>C n.58-2888A>C c.644-2888A>C (n.644-2888A>C) c.121A>C | |
14 | g.94619453A>G | CA390856367 | SERPINA3 | c.902A>G (p.Asp301Gly) c.248A>G (p.Asp83Gly) c.1865A>G n.58-2888A>G c.644-2888A>G (n.644-2888A>G) c.121A>G | |
14 | g.94619453A>T | CA7329917 | SERPINA3 | c.902A>T (p.Asp301Val) c.248A>T (p.Asp83Val) c.1865A>T n.58-2888A>T c.644-2888A>T (n.644-2888A>T) c.121A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619454C>A | CA390856371 | SERPINA3 | c.903C>A (p.Asp301Glu) c.249C>A (p.Asp83Glu) c.1866C>A n.58-2887C>A c.644-2887C>A (n.644-2887C>A) c.122C>A | |
14 | g.94619454C>G | CA390856372 | SERPINA3 | c.903C>G (p.Asp301Glu) c.249C>G (p.Asp83Glu) c.1866C>G n.58-2887C>G c.644-2887C>G (n.644-2887C>G) c.122C>G | |
14 | g.94619454C>T | CA487625305 | SERPINA3 | c.903C>T (p.Asp301=) c.249C>T (p.Asp83=) c.1866C>T n.58-2887C>T c.644-2887C>T (n.644-2887C>T) c.122C>T | gnomAD v4 |
14 | g.94619455T>A | CA390856378 | SERPINA3 | c.904T>A (p.Ser302Thr) c.250T>A (p.Ser84Thr) c.1867T>A n.58-2886T>A c.644-2886T>A (n.644-2886T>A) c.123T>A | |
14 | g.94619455T>C | CA390856376 | SERPINA3 | c.904T>C (p.Ser302Pro) c.250T>C (p.Ser84Pro) c.1867T>C n.58-2886T>C c.644-2886T>C (n.644-2886T>C) c.123T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.94619455T>G | CA390856375 | SERPINA3 | c.904T>G (p.Ser302Ala) c.250T>G (p.Ser84Ala) c.1867T>G n.58-2886T>G c.644-2886T>G (n.644-2886T>G) c.123T>G | |
14 | g.94619455T= | CA2156074160 | SERPINA3 | c.904T= (p.Ser302=) c.250T= (p.Ser84=) c.1867T= n.58-2886T= c.644-2886T= (n.644-2886T=) c.123T= | |
14 | g.94619456C>A | CA390856380 | SERPINA3 | c.905C>A (p.Ser302Tyr) c.251C>A (p.Ser84Tyr) c.1868C>A n.58-2885C>A c.644-2885C>A (n.644-2885C>A) c.124C>A | |
14 | g.94619456C>G | CA390856382 | SERPINA3 | c.905C>G (p.Ser302Cys) c.251C>G (p.Ser84Cys) c.1868C>G n.58-2885C>G c.644-2885C>G (n.644-2885C>G) c.124C>G | |
14 | g.94619456C>T | CA390856384 | SERPINA3 | c.905C>T (p.Ser302Phe) c.251C>T (p.Ser84Phe) c.1868C>T n.58-2885C>T c.644-2885C>T (n.644-2885C>T) c.124C>T | gnomAD v4 |
14 | g.94619457T>A | CA487625308 | SERPINA3 | c.906T>A (p.Ser302=) c.252T>A (p.Ser84=) c.1869T>A n.58-2884T>A c.644-2884T>A (n.644-2884T>A) c.125T>A | dbSNP gnomAD v4 |
14 | g.94619457T>C | CA487625307 | SERPINA3 | c.906T>C (p.Ser302=) c.252T>C (p.Ser84=) c.1869T>C n.58-2884T>C c.644-2884T>C (n.644-2884T>C) c.125T>C | |
14 | g.94619457T>G | CA487625306 | SERPINA3 | c.906T>G (p.Ser302=) c.252T>G (p.Ser84=) c.1869T>G n.58-2884T>G c.644-2884T>G (n.644-2884T>G) c.125T>G | |
14 | g.94619458C>A | CA390856385 | SERPINA3 | c.907C>A (p.Leu303Met) c.253C>A (p.Leu85Met) c.1870C>A n.58-2883C>A c.644-2883C>A (n.644-2883C>A) c.126C>A | |
14 | g.94619458C= | CA2156074161 | SERPINA3 | c.907C= (p.Leu303=) c.253C= (p.Leu85=) c.1870C= n.58-2883C= c.644-2883C= (n.644-2883C=) c.126C= | |
14 | g.94619458C>G | CA390856387 | SERPINA3 | c.907C>G (p.Leu303Val) c.253C>G (p.Leu85Val) c.1870C>G n.58-2883C>G c.644-2883C>G (n.644-2883C>G) c.126C>G | dbSNP gnomAD v4 |
14 | g.94619458C>T | CA487625309 | SERPINA3 | c.907C>T (p.Leu303=) c.253C>T (p.Leu85=) c.1870C>T n.58-2883C>T c.644-2883C>T (n.644-2883C>T) c.126C>T | |
14 | g.94619459T>A | CA390856389 | SERPINA3 | c.908T>A (p.Leu303Gln) c.254T>A (p.Leu85Gln) c.1871T>A n.58-2882T>A c.644-2882T>A (n.644-2882T>A) c.127T>A | |
14 | g.94619459T>C | CA390856391 | SERPINA3 | c.908T>C (p.Leu303Pro) c.254T>C (p.Leu85Pro) c.1871T>C n.58-2882T>C c.644-2882T>C (n.644-2882T>C) c.127T>C | |
14 | g.94619459T>G | CA390856393 | SERPINA3 | c.908T>G (p.Leu303Arg) c.254T>G (p.Leu85Arg) c.1871T>G n.58-2882T>G c.644-2882T>G (n.644-2882T>G) c.127T>G | |
14 | g.94619460G>A | CA265885283 | SERPINA3 | c.909G>A (p.Leu303=) c.255G>A (p.Leu85=) c.1872G>A n.58-2881G>A c.644-2881G>A (n.644-2881G>A) c.128G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619460G>C | CA487625311 | SERPINA3 | c.909G>C (p.Leu303=) c.255G>C (p.Leu85=) c.1872G>C n.58-2881G>C c.644-2881G>C (n.644-2881G>C) c.128G>C | |
14 | g.94619460G= | CA2156074162 | SERPINA3 | c.909G= (p.Leu303=) c.255G= (p.Leu85=) c.1872G= n.58-2881G= c.644-2881G= (n.644-2881G=) c.128G= | |
14 | g.94619460G>T | CA487625310 | SERPINA3 | c.909G>T (p.Leu303=) c.255G>T (p.Leu85=) c.1872G>T n.58-2881G>T c.644-2881G>T (n.644-2881G>T) c.128G>T | |
14 | g.94619461G>A | CA390856395 | SERPINA3 | c.910G>A (p.Glu304Lys) c.256G>A (p.Glu86Lys) c.1873G>A n.58-2880G>A c.644-2880G>A (n.644-2880G>A) c.129G>A | COSMIC COSMIC |
14 | g.94619461G>C | CA390856396 | SERPINA3 | c.910G>C (p.Glu304Gln) c.256G>C (p.Glu86Gln) c.1873G>C n.58-2880G>C c.644-2880G>C (n.644-2880G>C) c.129G>C | |
14 | g.94619461G= | CA2156074163 | SERPINA3 | c.910G= (p.Glu304=) c.256G= (p.Glu86=) c.1873G= n.58-2880G= c.644-2880G= (n.644-2880G=) c.129G= | |
14 | g.94619461G>T | CA390856398 | SERPINA3 | c.910G>T (p.Glu304Ter) c.256G>T (p.Glu86Ter) c.1873G>T n.58-2880G>T c.644-2880G>T (n.644-2880G>T) c.129G>T | dbSNP gnomAD v2 |
14 | g.94619462A>C | CA390856404 | SERPINA3 | c.911A>C (p.Glu304Ala) c.257A>C (p.Glu86Ala) c.1874A>C n.58-2879A>C c.644-2879A>C (n.644-2879A>C) c.130A>C | gnomAD v4 |
14 | g.94619462A>G | CA390856402 | SERPINA3 | c.911A>G (p.Glu304Gly) c.257A>G (p.Glu86Gly) c.1874A>G n.58-2879A>G c.644-2879A>G (n.644-2879A>G) c.130A>G | |
14 | g.94619462A>T | CA390856400 | SERPINA3 | c.911A>T (p.Glu304Val) c.257A>T (p.Glu86Val) c.1874A>T n.58-2879A>T c.644-2879A>T (n.644-2879A>T) c.130A>T |