Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.156508622A>C | CA362007960 | SGCD | c.214A>C (p.Ile72Leu) c.211A>C (p.Ile71Leu) c.*78A>C (n.*78A>C) | |
5 | g.156508622A>G | CA362007961 | SGCD | c.214A>G (p.Ile72Val) c.211A>G (p.Ile71Val) c.*78A>G (n.*78A>G) | gnomAD v4 |
5 | g.156508622A>T | CA362007962 | SGCD | c.214A>T (p.Ile72Phe) c.211A>T (p.Ile71Phe) c.*78A>T (n.*78A>T) | |
5 | g.156508623T>A | CA362007965 | SGCD | c.215T>A (p.Ile72Asn) c.212T>A (p.Ile71Asn) c.*79T>A (n.*79T>A) | |
5 | g.156508623T>C | CA362007964 | SGCD | c.215T>C (p.Ile72Thr) c.212T>C (p.Ile71Thr) c.*79T>C (n.*79T>C) | |
5 | g.156508623T>G | CA362007963 | SGCD | c.215T>G (p.Ile72Ser) c.212T>G (p.Ile71Ser) c.*79T>G (n.*79T>G) | |
5 | g.156508624C>A | CA447387908 | SGCD | c.216C>A (p.Ile72=) c.213C>A (p.Ile71=) c.*80C>A (n.*80C>A) | |
5 | g.156508624C>G | CA362007966 | SGCD | c.216C>G (p.Ile72Met) c.213C>G (p.Ile71Met) c.*80C>G (n.*80C>G) | |
5 | g.156508624C>T | CA447387909 | SGCD | c.216C>T (p.Ile72=) c.213C>T (p.Ile71=) c.*80C>T (n.*80C>T) | |
5 | g.156508625A>C | CA362007967 | SGCD | c.217A>C (p.Thr73Pro) c.214A>C (p.Thr72Pro) c.*81A>C (n.*81A>C) | |
5 | g.156508625A>G | CA362007968 | SGCD | c.217A>G (p.Thr73Ala) c.214A>G (p.Thr72Ala) c.*81A>G (n.*81A>G) | |
5 | g.156508625A>T | CA362007969 | SGCD | c.217A>T (p.Thr73Ser) c.214A>T (p.Thr72Ser) c.*81A>T (n.*81A>T) | |
5 | g.156508626C>A | CA362007970 | SGCD | c.218C>A (p.Thr73Lys) c.215C>A (p.Thr72Lys) c.*82C>A (n.*82C>A) | gnomAD v4 |
5 | g.156508626C>G | CA362007971 | SGCD | c.218C>G (p.Thr73Arg) c.215C>G (p.Thr72Arg) c.*82C>G (n.*82C>G) | COSMIC COSMIC |
5 | g.156508626C>T | CA362007972 | SGCD | c.218C>T (p.Thr73Ile) c.215C>T (p.Thr72Ile) c.*82C>T (n.*82C>T) | |
5 | g.156508627A>C | CA447387910 | SGCD | c.219A>C (p.Thr73=) c.216A>C (p.Thr72=) c.*83A>C (n.*83A>C) | |
5 | g.156508627A>G | CA447387911 | SGCD | c.219A>G (p.Thr73=) c.216A>G (p.Thr72=) c.*83A>G (n.*83A>G) | ClinVar |
5 | g.156508627A>T | CA447387912 | SGCD | c.219A>T (p.Thr73=) c.216A>T (p.Thr72=) c.*83A>T (n.*83A>T) | |
5 | g.156508628G>A | CA362007973 | SGCD | c.220G>A (p.Glu74Lys) c.217G>A (p.Glu73Lys) c.*84G>A (n.*84G>A) | |
5 | g.156508628G>C | CA362007974 | SGCD | c.220G>C (p.Glu74Gln) c.217G>C (p.Glu73Gln) c.*84G>C (n.*84G>C) | |
5 | g.156508628G>T | CA362007975 | SGCD | c.220G>T (p.Glu74Ter) c.217G>T (p.Glu73Ter) c.*84G>T (n.*84G>T) | |
5 | g.156508629A>C | CA362007978 | SGCD | c.221A>C (p.Glu74Ala) c.218A>C (p.Glu73Ala) c.*85A>C (n.*85A>C) | |
5 | g.156508629A>G | CA362007977 | SGCD | c.221A>G (p.Glu74Gly) c.218A>G (p.Glu73Gly) c.*85A>G (n.*85A>G) | |
5 | g.156508629A>T | CA362007976 | SGCD | c.221A>T (p.Glu74Val) c.218A>T (p.Glu73Val) c.*85A>T (n.*85A>T) | gnomAD v4 |
5 | g.156508633del | CA2578464704 | SGCD | c.225del (p.Gly76ValfsTer2) c.222del (p.Gly75ValfsTer2) c.*89del (n.*89del) | gnomAD v4 |
5 | g.156508630A= | CA1593738831 | SGCD | c.222A= (p.Glu74=) c.219A= (p.Glu73=) c.*86A= (n.*86A=) | |
5 | g.156508630A>C | CA362007979 | SGCD | c.222A>C (p.Glu74Asp) c.219A>C (p.Glu73Asp) c.*86A>C (n.*86A>C) | |
5 | g.156508630A>G | CA447387913 | SGCD | c.222A>G (p.Glu74=) c.219A>G (p.Glu73=) c.*86A>G (n.*86A>G) | dbSNP |
5 | g.156508630A>T | CA362007980 | SGCD | c.222A>T (p.Glu74Asp) c.219A>T (p.Glu73Asp) c.*86A>T (n.*86A>T) | |
5 | g.156508631A>C | CA362007981 | SGCD | c.223A>C (p.Lys75Gln) c.220A>C (p.Lys74Gln) c.*87A>C (n.*87A>C) | |
5 | g.156508631A>G | CA362007982 | SGCD | c.223A>G (p.Lys75Glu) c.220A>G (p.Lys74Glu) c.*87A>G (n.*87A>G) | |
5 | g.156508631A>T | CA362007983 | SGCD | c.223A>T (p.Lys75Ter) c.220A>T (p.Lys74Ter) c.*87A>T (n.*87A>T) | |
5 | g.156508632A>C | CA362007984 | SGCD | c.224A>C (p.Lys75Thr) c.221A>C (p.Lys74Thr) c.*88A>C (n.*88A>C) | |
5 | g.156508632A>G | CA362007985 | SGCD | c.224A>G (p.Lys75Arg) c.221A>G (p.Lys74Arg) c.*88A>G (n.*88A>G) | |
5 | g.156508632A>T | CA362007986 | SGCD | c.224A>T (p.Lys75Ile) c.221A>T (p.Lys74Ile) c.*88A>T (n.*88A>T) | |
5 | g.156508633A>C | CA362007987 | SGCD | c.225A>C (p.Lys75Asn) c.222A>C (p.Lys74Asn) c.*89A>C (n.*89A>C) | |
5 | g.156508633A>G | CA447387914 | SGCD | c.225A>G (p.Lys75=) c.222A>G (p.Lys74=) c.*89A>G (n.*89A>G) | gnomAD v4 |
5 | g.156508633A>T | CA362007988 | SGCD | c.225A>T (p.Lys75Asn) c.222A>T (p.Lys74Asn) c.*89A>T (n.*89A>T) | |
5 | g.156508634G>A | CA362007989 | SGCD | c.226G>A (p.Gly76Ser) c.223G>A (p.Gly75Ser) c.*90G>A (n.*90G>A) | gnomAD v4 |
5 | g.156508634G>C | CA130613349 | SGCD | c.226G>C (p.Gly76Arg) c.223G>C (p.Gly75Arg) c.*90G>C (n.*90G>C) | dbSNP gnomAD v4 |
5 | g.156508634G= | CA1593738832 | SGCD | c.226G= (p.Gly76=) c.223G= (p.Gly75=) c.*90G= (n.*90G=) | |
5 | g.156508634G>T | CA211885 | SGCD | c.226G>T (p.Gly76Cys) c.223G>T (p.Gly75Cys) c.*90G>T (n.*90G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.156508635del | CA2695198786 | SGCD | c.227del (p.Gly76ValfsTer2) c.224del (p.Gly75ValfsTer2) c.*91del (n.*91del) | ClinVar |
5 | g.156508635G>A | CA362007990 | SGCD | c.227G>A (p.Gly76Asp) c.224G>A (p.Gly75Asp) c.*91G>A (n.*91G>A) | |
5 | g.156508635G>C | CA362007991 | SGCD | c.227G>C (p.Gly76Ala) c.224G>C (p.Gly75Ala) c.*91G>C (n.*91G>C) | |
5 | g.156508635G>T | CA362007992 | SGCD | c.227G>T (p.Gly76Val) c.224G>T (p.Gly75Val) c.*91G>T (n.*91G>T) | COSMIC COSMIC |
5 | g.156508636T>A | CA447387915 | SGCD | c.228T>A (p.Gly76=) c.225T>A (p.Gly75=) c.*92T>A (n.*92T>A) | |
5 | g.156508636T>C | CA447387916 | SGCD | c.228T>C (p.Gly76=) c.225T>C (p.Gly75=) c.*92T>C (n.*92T>C) | |
5 | g.156508636T>G | CA447387917 | SGCD | c.228T>G (p.Gly76=) c.225T>G (p.Gly75=) c.*92T>G (n.*92T>G) | |
5 | g.156508637C>A | CA362007993 | SGCD | c.229C>A (p.Leu77Ile) c.226C>A (p.Leu76Ile) c.*93C>A (n.*93C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508637C= | CA1593738833 | SGCD | c.229C= (p.Leu77=) c.226C= (p.Leu76=) c.*93C= (n.*93C=) | |
5 | g.156508637C>G | CA362007994 | SGCD | c.229C>G (p.Leu77Val) c.226C>G (p.Leu76Val) c.*93C>G (n.*93C>G) | |
5 | g.156508637C>T | CA447387918 | SGCD | c.229C>T (p.Leu77=) c.226C>T (p.Leu76=) c.*93C>T (n.*93C>T) | |
5 | g.156508638T>A | CA362007995 | SGCD | c.230T>A (p.Leu77Gln) c.227T>A (p.Leu76Gln) c.*94T>A (n.*94T>A) | |
5 | g.156508638T>C | CA362007996 | SGCD | c.230T>C (p.Leu77Pro) c.227T>C (p.Leu76Pro) c.*94T>C (n.*94T>C) | |
5 | g.156508638T>G | CA362007997 | SGCD | c.230T>G (p.Leu77Arg) c.227T>G (p.Leu76Arg) c.*94T>G (n.*94T>G) | |
5 | g.156508639A= | CA1593738834 | SGCD | c.231A= (p.Leu77=) c.228A= (p.Leu76=) c.*95A= (n.*95A=) | |
5 | g.156508639A>C | CA447387919 | SGCD | c.231A>C (p.Leu77=) c.228A>C (p.Leu76=) c.*95A>C (n.*95A>C) | |
5 | g.156508639A>G | CA447387921 | SGCD | c.231A>G (p.Leu77=) c.228A>G (p.Leu76=) c.*95A>G (n.*95A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.156508639A>T | CA447387920 | SGCD | c.231A>T (p.Leu77=) c.228A>T (p.Leu76=) c.*95A>T (n.*95A>T) | |
5 | g.156508640A>C | CA362007998 | SGCD | c.232A>C (p.Lys78Gln) c.229A>C (p.Lys77Gln) c.*96A>C (n.*96A>C) | ClinVar |
5 | g.156508640A>G | CA362007999 | SGCD | c.232A>G (p.Lys78Glu) c.229A>G (p.Lys77Glu) c.*96A>G (n.*96A>G) | |
5 | g.156508640A>T | CA362008000 | SGCD | c.232A>T (p.Lys78Ter) c.229A>T (p.Lys77Ter) c.*96A>T (n.*96A>T) | |
5 | g.156508641A>C | CA362008001 | SGCD | c.233A>C (p.Lys78Thr) c.230A>C (p.Lys77Thr) c.*97A>C (n.*97A>C) | |
5 | g.156508641A>G | CA362008003 | SGCD | c.233A>G (p.Lys78Arg) c.230A>G (p.Lys77Arg) c.*97A>G (n.*97A>G) | |
5 | g.156508641A>T | CA362008002 | SGCD | c.233A>T (p.Lys78Met) c.230A>T (p.Lys77Met) c.*97A>T (n.*97A>T) | |
5 | g.156508642G>A | CA447387922 | SGCD | c.234G>A (p.Lys78=) c.231G>A (p.Lys77=) c.*98G>A (n.*98G>A) | ClinVar |
5 | g.156508642G>C | CA362008004 | SGCD | c.234G>C (p.Lys78Asn) c.231G>C (p.Lys77Asn) c.*98G>C (n.*98G>C) | |
5 | g.156508642G>T | CA362008005 | SGCD | c.234G>T (p.Lys78Asn) c.231G>T (p.Lys77Asn) c.*98G>T (n.*98G>T) | |
5 | g.156508643C>A | CA362008006 | SGCD | c.235C>A (p.Leu79Ile) c.232C>A (p.Leu78Ile) c.*99C>A (n.*99C>A) | |
5 | g.156508643C>G | CA362008007 | SGCD | c.235C>G (p.Leu79Val) c.232C>G (p.Leu78Val) c.*99C>G (n.*99C>G) | |
5 | g.156508643C>T | CA447387923 | SGCD | c.235C>T (p.Leu79=) c.232C>T (p.Leu78=) c.*99C>T (n.*99C>T) | |
5 | g.156508644T>A | CA362008008 | SGCD | c.236T>A (p.Leu79Gln) c.233T>A (p.Leu78Gln) c.*100T>A (n.*100T>A) | |
5 | g.156508644T>C | CA362008009 | SGCD | c.236T>C (p.Leu79Pro) c.233T>C (p.Leu78Pro) c.*100T>C (n.*100T>C) | gnomAD v4 |
5 | g.156508644T>G | CA362008010 | SGCD | c.236T>G (p.Leu79Arg) c.233T>G (p.Leu78Arg) c.*100T>G (n.*100T>G) | |
5 | g.156508645A= | CA1593738835 | SGCD | c.237A= (p.Leu79=) c.234A= (p.Leu78=) c.*101A= (n.*101A=) | |
5 | g.156508645A>C | CA447387924 | SGCD | c.237A>C (p.Leu79=) c.234A>C (p.Leu78=) c.*101A>C (n.*101A>C) | |
5 | g.156508645A>G | CA3530539 | SGCD | c.237A>G (p.Leu79=) c.234A>G (p.Leu78=) c.*101A>G (n.*101A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.156508645A>T | CA447387925 | SGCD | c.237A>T (p.Leu79=) c.234A>T (p.Leu78=) c.*101A>T (n.*101A>T) | |
5 | g.156508646G>A | CA362008011 | SGCD | c.238G>A (p.Glu80Lys) c.235G>A (p.Glu79Lys) c.*102G>A (n.*102G>A) | COSMIC COSMIC |
5 | g.156508646G>C | CA362008013 | SGCD | c.238G>C (p.Glu80Gln) c.235G>C (p.Glu79Gln) c.*102G>C (n.*102G>C) | gnomAD v4 |
5 | g.156508646G>T | CA362008012 | SGCD | c.238G>T (p.Glu80Ter) c.235G>T (p.Glu79Ter) c.*102G>T (n.*102G>T) | |
5 | g.156508647A>C | CA362008014 | SGCD | c.239A>C (p.Glu80Ala) c.236A>C (p.Glu79Ala) c.*103A>C (n.*103A>C) | |
5 | g.156508647A>G | CA362008016 | SGCD | c.239A>G (p.Glu80Gly) c.236A>G (p.Glu79Gly) c.*103A>G (n.*103A>G) | |
5 | g.156508647A>T | CA362008015 | SGCD | c.239A>T (p.Glu80Val) c.236A>T (p.Glu79Val) c.*103A>T (n.*103A>T) | |
5 | g.156508647_156508650delinsAAGG | CA1593738836 | SGCD | c.239_242delinsAAGG (p.Glu80=) c.236_239delinsAAGG (p.Glu79=) c.*103_*106delinsAAGG (n.*103_*106delinsAAGG) | |
5 | g.156508648A>C | CA362008017 | SGCD | c.240A>C (p.Glu80Asp) c.237A>C (p.Glu79Asp) c.*104A>C (n.*104A>C) | |
5 | g.156508648A>G | CA447387926 | SGCD | c.240A>G (p.Glu80=) c.237A>G (p.Glu79=) c.*104A>G (n.*104A>G) | ClinVar gnomAD v4 |
5 | g.156508648A>T | CA362008018 | SGCD | c.240A>T (p.Glu80Asp) c.237A>T (p.Glu79Asp) c.*104A>T (n.*104A>T) | |
5 | g.156508650_156508652del | CA308794 | SGCD | c.242_244del (p.Gly81del) c.239_241del (p.Gly80del) c.*106_*108del (n.*106_*108del) | ClinVar dbSNP |
5 | g.156508649G>A | CA362008021 | SGCD | c.241G>A (p.Gly81Arg) c.238G>A (p.Gly80Arg) c.*105G>A (n.*105G>A) | COSMIC |
5 | g.156508649G>C | CA362008019 | SGCD | c.241G>C (p.Gly81Arg) c.238G>C (p.Gly80Arg) c.*105G>C (n.*105G>C) | |
5 | g.156508649G>T | CA362008020 | SGCD | c.241G>T (p.Gly81Ter) c.238G>T (p.Gly80Ter) c.*105G>T (n.*105G>T) | |
5 | g.156508650G>A | CA362008022 | SGCD | c.242G>A (p.Gly81Glu) c.239G>A (p.Gly80Glu) c.*106G>A (n.*106G>A) | gnomAD v4 COSMIC COSMIC |
5 | g.156508650G>C | CA362008023 | SGCD | c.242G>C (p.Gly81Ala) c.239G>C (p.Gly80Ala) c.*106G>C (n.*106G>C) | ClinVar dbSNP gnomAD v4 |
5 | g.156508650G>T | CA362008024 | SGCD | c.242G>T (p.Gly81Val) c.239G>T (p.Gly80Val) c.*106G>T (n.*106G>T) | |
5 | g.156508651A= | CA1593738837 | SGCD | c.243A= (p.Gly81=) c.240A= (p.Gly80=) c.*107A= (n.*107A=) | |
5 | g.156508651A>C | CA447387927 | SGCD | c.243A>C (p.Gly81=) c.240A>C (p.Gly80=) c.*107A>C (n.*107A>C) | |
5 | g.156508651A>G | CA3530540 | SGCD | c.243A>G (p.Gly81=) c.240A>G (p.Gly80=) c.*107A>G (n.*107A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.156508651A>T | CA447387928 | SGCD | c.243A>T (p.Gly81=) c.240A>T (p.Gly80=) c.*107A>T (n.*107A>T) | |
5 | g.156508652G>A | CA362008027 | SGCD | c.244G>A (p.Asp82Asn) c.241G>A (p.Asp81Asn) c.*108G>A (n.*108G>A) | |
5 | g.156508652G>C | CA362008026 | SGCD | c.244G>C (p.Asp82His) c.241G>C (p.Asp81His) c.*108G>C (n.*108G>C) | |
5 | g.156508652G>T | CA362008025 | SGCD | c.244G>T (p.Asp82Tyr) c.241G>T (p.Asp81Tyr) c.*108G>T (n.*108G>T) | |
5 | g.156508653A>C | CA362008028 | SGCD | c.245A>C (p.Asp82Ala) c.242A>C (p.Asp81Ala) c.*109A>C (n.*109A>C) | |
5 | g.156508653A>G | CA362008029 | SGCD | c.245A>G (p.Asp82Gly) c.242A>G (p.Asp81Gly) c.*109A>G (n.*109A>G) | |
5 | g.156508653A>T | CA362008030 | SGCD | c.245A>T (p.Asp82Val) c.242A>T (p.Asp81Val) c.*109A>T (n.*109A>T) | |
5 | g.156508653_156508655delinsACT | CA1593738838 | SGCD | c.245_247delinsACT (p.Asp82=) c.242_244delinsACT (p.Asp81=) c.*109_*111delinsACT (n.*109_*111delinsACT) | |
5 | g.156508654C>A | CA362008031 | SGCD | c.246C>A (p.Asp82Glu) c.243C>A (p.Asp81Glu) c.*110C>A (n.*110C>A) | |
5 | g.156508654C>G | CA362008032 | SGCD | c.246C>G (p.Asp82Glu) c.243C>G (p.Asp81Glu) c.*110C>G (n.*110C>G) | gnomAD v4 |
5 | g.156508654C>T | CA447387929 | SGCD | c.246C>T (p.Asp82=) c.243C>T (p.Asp81=) c.*110C>T (n.*110C>T) | |
5 | g.156508656_156508657del | CA917616483 | SGCD | c.248_249del (p.Ser83Ter) c.245_246del (p.Ser82Ter) c.*112_*113del (n.*112_*113del) | ClinVar dbSNP |
5 | g.156508655T>A | CA362008033 | SGCD | c.247T>A (p.Ser83Thr) c.244T>A (p.Ser82Thr) c.*111T>A (n.*111T>A) | |
5 | g.156508655T>C | CA362008034 | SGCD | c.247T>C (p.Ser83Pro) c.244T>C (p.Ser82Pro) c.*111T>C (n.*111T>C) | |
5 | g.156508655T>G | CA362008035 | SGCD | c.247T>G (p.Ser83Ala) c.244T>G (p.Ser82Ala) c.*111T>G (n.*111T>G) | gnomAD v4 |
5 | g.156508656C>A | CA362008037 | SGCD | c.248C>A (p.Ser83Tyr) c.245C>A (p.Ser82Tyr) c.*112C>A (n.*112C>A) | COSMIC |
5 | g.156508656C>G | CA362008038 | SGCD | c.248C>G (p.Ser83Cys) c.245C>G (p.Ser82Cys) c.*112C>G (n.*112C>G) | |
5 | g.156508656C>T | CA362008036 | SGCD | c.248C>T (p.Ser83Phe) c.245C>T (p.Ser82Phe) c.*112C>T (n.*112C>T) | |
5 | g.156508657T>A | CA447387930 | SGCD | c.249T>A (p.Ser83=) c.246T>A (p.Ser82=) c.*113T>A (n.*113T>A) | |
5 | g.156508657T>C | CA447387931 | SGCD | c.249T>C (p.Ser83=) c.246T>C (p.Ser82=) c.*113T>C (n.*113T>C) | |
5 | g.156508657T>G | CA447387932 | SGCD | c.249T>G (p.Ser83=) c.246T>G (p.Ser82=) c.*113T>G (n.*113T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508657T= | CA1593738839 | SGCD | c.249T= (p.Ser83=) c.246T= (p.Ser82=) c.*113T= (n.*113T=) | |
5 | g.156508658G>A | CA362008039 | SGCD | c.250G>A (p.Glu84Lys) c.247G>A (p.Glu83Lys) c.*114G>A (n.*114G>A) | |
5 | g.156508658G>C | CA362008040 | SGCD | c.250G>C (p.Glu84Gln) c.247G>C (p.Glu83Gln) c.*114G>C (n.*114G>C) | |
5 | g.156508658G>T | CA362008041 | SGCD | c.250G>T (p.Glu84Ter) c.247G>T (p.Glu83Ter) c.*114G>T (n.*114G>T) | COSMIC COSMIC |
5 | g.156508659A>C | CA362008042 | SGCD | c.251A>C (p.Glu84Ala) c.248A>C (p.Glu83Ala) c.*115A>C (n.*115A>C) | |
5 | g.156508659A>G | CA362008043 | SGCD | c.251A>G (p.Glu84Gly) c.248A>G (p.Glu83Gly) c.*115A>G (n.*115A>G) | |
5 | g.156508659A>T | CA362008044 | SGCD | c.251A>T (p.Glu84Val) c.248A>T (p.Glu83Val) c.*115A>T (n.*115A>T) | |
5 | g.156508660dup | CA2578464705 | SGCD | c.252dup (p.Phe85IlefsTer16) c.249dup (p.Phe84IlefsTer16) c.*116dup (n.*116dup) | |
5 | g.156508660A>C | CA362008045 | SGCD | c.252A>C (p.Glu84Asp) c.249A>C (p.Glu83Asp) c.*116A>C (n.*116A>C) | |
5 | g.156508660A>G | CA447387933 | SGCD | c.252A>G (p.Glu84=) c.249A>G (p.Glu83=) c.*116A>G (n.*116A>G) | |
5 | g.156508660A>T | CA362008046 | SGCD | c.252A>T (p.Glu84Asp) c.249A>T (p.Glu83Asp) c.*116A>T (n.*116A>T) | |
5 | g.156508661T>A | CA362008049 | SGCD | c.253T>A (p.Phe85Ile) c.250T>A (p.Phe84Ile) c.*117T>A (n.*117T>A) | |
5 | g.156508661T>C | CA362008048 | SGCD | c.253T>C (p.Phe85Leu) c.250T>C (p.Phe84Leu) c.*117T>C (n.*117T>C) | |
5 | g.156508661T>G | CA362008047 | SGCD | c.253T>G (p.Phe85Val) c.250T>G (p.Phe84Val) c.*117T>G (n.*117T>G) | gnomAD v4 |
5 | g.156508662T>A | CA362008050 | SGCD | c.254T>A (p.Phe85Tyr) c.251T>A (p.Phe84Tyr) c.*118T>A (n.*118T>A) | |
5 | g.156508662T>C | CA362008051 | SGCD | c.254T>C (p.Phe85Ser) c.251T>C (p.Phe84Ser) c.*118T>C (n.*118T>C) | |
5 | g.156508662T>G | CA362008052 | SGCD | c.254T>G (p.Phe85Cys) c.251T>G (p.Phe84Cys) c.*118T>G (n.*118T>G) | |
5 | g.156508663C>A | CA362008053 | SGCD | c.255C>A (p.Phe85Leu) c.252C>A (p.Phe84Leu) c.*119C>A (n.*119C>A) | |
5 | g.156508663C= | CA1593738840 | SGCD | c.255C= (p.Phe85=) c.252C= (p.Phe84=) c.*119C= (n.*119C=) | |
5 | g.156508663C>G | CA362008054 | SGCD | c.255C>G (p.Phe85Leu) c.252C>G (p.Phe84Leu) c.*119C>G (n.*119C>G) | gnomAD v4 |
5 | g.156508663C>T | CA3530541 | SGCD | c.255C>T (p.Phe85=) c.252C>T (p.Phe84=) c.*119C>T (n.*119C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.156508664T>A | CA362008055 | SGCD | c.256T>A (p.Leu86Ile) c.253T>A (p.Leu85Ile) c.*120T>A (n.*120T>A) | |
5 | g.156508664T>C | CA447387934 | SGCD | c.256T>C (p.Leu86=) c.253T>C (p.Leu85=) c.*120T>C (n.*120T>C) | |
5 | g.156508664T>G | CA362008056 | SGCD | c.256T>G (p.Leu86Val) c.253T>G (p.Leu85Val) c.*120T>G (n.*120T>G) | |
5 | g.156508665T>A | CA362008057 | SGCD | c.257T>A (p.Leu86Ter) c.254T>A (p.Leu85Ter) c.*121T>A (n.*121T>A) | |
5 | g.156508665T>C | CA362008058 | SGCD | c.257T>C (p.Leu86Ser) c.254T>C (p.Leu85Ser) c.*121T>C (n.*121T>C) | |
5 | g.156508665T>G | CA362008059 | SGCD | c.257T>G (p.Leu86Ter) c.254T>G (p.Leu85Ter) c.*121T>G (n.*121T>G) | |
5 | g.156508666A= | CA1593738841 | SGCD | c.258A= (p.Leu86=) c.255A= (p.Leu85=) c.*122A= (n.*122A=) | |
5 | g.156508666A>C | CA362008061 | SGCD | c.258A>C (p.Leu86Phe) c.255A>C (p.Leu85Phe) c.*122A>C (n.*122A>C) | |
5 | g.156508666A>G | CA3530542 | SGCD | c.258A>G (p.Leu86=) c.255A>G (p.Leu85=) c.*122A>G (n.*122A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508666A>T | CA362008060 | SGCD | c.258A>T (p.Leu86Phe) c.255A>T (p.Leu85Phe) c.*122A>T (n.*122A>T) | |
5 | g.156508668_156508670dup | CA2676178098 | SGCD | c.260_262dup (p.Gln87_Pro88insGln) c.257_259dup (p.Gln86_Pro87insGln) c.*124_*126dup (n.*124_*126dup) | gnomAD v4 |
5 | g.156508667C>A | CA362008064 | SGCD | c.259C>A (p.Gln87Lys) c.256C>A (p.Gln86Lys) c.*123C>A (n.*123C>A) | gnomAD v4 |
5 | g.156508667C>G | CA362008062 | SGCD | c.259C>G (p.Gln87Glu) c.256C>G (p.Gln86Glu) c.*123C>G (n.*123C>G) | |
5 | g.156508667C>T | CA362008063 | SGCD | c.259C>T (p.Gln87Ter) c.256C>T (p.Gln86Ter) c.*123C>T (n.*123C>T) | COSMIC COSMIC |
5 | g.156508668A>C | CA362008065 | SGCD | c.260A>C (p.Gln87Pro) c.257A>C (p.Gln86Pro) c.*124A>C (n.*124A>C) | |
5 | g.156508668A>G | CA362008066 | SGCD | c.260A>G (p.Gln87Arg) c.257A>G (p.Gln86Arg) c.*124A>G (n.*124A>G) | |
5 | g.156508668A>T | CA362008067 | SGCD | c.260A>T (p.Gln87Leu) c.257A>T (p.Gln86Leu) c.*124A>T (n.*124A>T) | |
5 | g.156508669A= | CA1593738842 | SGCD | c.261A= (p.Gln87=) c.258A= (p.Gln86=) c.*125A= (n.*125A=) | |
5 | g.156508669A>C | CA362008068 | SGCD | c.261A>C (p.Gln87His) c.258A>C (p.Gln86His) c.*125A>C (n.*125A>C) | dbSNP |
5 | g.156508669A>G | CA447387935 | SGCD | c.261A>G (p.Gln87=) c.258A>G (p.Gln86=) c.*125A>G (n.*125A>G) | gnomAD v4 |
5 | g.156508669A>T | CA362008069 | SGCD | c.261A>T (p.Gln87His) c.258A>T (p.Gln86His) c.*125A>T (n.*125A>T) | |
5 | g.156508670C>A | CA362008070 | SGCD | c.262C>A (p.Pro88Thr) c.259C>A (p.Pro87Thr) c.*126C>A (n.*126C>A) | gnomAD v4 |
5 | g.156508670C= | CA1593738843 | SGCD | c.262C= (p.Pro88=) c.259C= (p.Pro87=) c.*126C= (n.*126C=) | |
5 | g.156508670C>G | CA362008071 | SGCD | c.262C>G (p.Pro88Ala) c.259C>G (p.Pro87Ala) c.*126C>G (n.*126C>G) | |
5 | g.156508670C>T | CA362008072 | SGCD | c.262C>T (p.Pro88Ser) c.259C>T (p.Pro87Ser) c.*126C>T (n.*126C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.156508671C>A | CA362008075 | SGCD | c.263C>A (p.Pro88His) c.260C>A (p.Pro87His) c.*127C>A (n.*127C>A) | |
5 | g.156508671C>G | CA362008074 | SGCD | c.263C>G (p.Pro88Arg) c.260C>G (p.Pro87Arg) c.*127C>G (n.*127C>G) | gnomAD v4 |
5 | g.156508671C>T | CA362008073 | SGCD | c.263C>T (p.Pro88Leu) c.260C>T (p.Pro87Leu) c.*127C>T (n.*127C>T) | |
5 | g.156508675_156508676del | CA2578464706 | SGCD | c.267_268del (p.Tyr90ArgfsTer10) c.264_265del (p.Tyr89ArgfsTer10) c.*131_*132del (n.*131_*132del) | |
5 | g.156508672T>A | CA3530543 | SGCD | c.264T>A (p.Pro88=) c.261T>A (p.Pro87=) c.*128T>A (n.*128T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508672T>C | CA447387936 | SGCD | c.264T>C (p.Pro88=) c.261T>C (p.Pro87=) c.*128T>C (n.*128T>C) | |
5 | g.156508672T>G | CA447387937 | SGCD | c.264T>G (p.Pro88=) c.261T>G (p.Pro87=) c.*128T>G (n.*128T>G) | |
5 | g.156508672T= | CA1593738844 | SGCD | c.264T= (p.Pro88=) c.261T= (p.Pro87=) c.*128T= (n.*128T=) | |
5 | g.156508673C>A | CA362008076 | SGCD | c.265C>A (p.Leu89Ile) c.262C>A (p.Leu88Ile) c.*129C>A (n.*129C>A) | |
5 | g.156508673C= | CA1593738845 | SGCD | c.265C= (p.Leu89=) c.262C= (p.Leu88=) c.*129C= (n.*129C=) | |
5 | g.156508673C>G | CA3530544 | SGCD | c.265C>G (p.Leu89Val) c.262C>G (p.Leu88Val) c.*129C>G (n.*129C>G) | ClinVar dbSNP ExAC gnomAD v2 |
5 | g.156508673C>T | CA362008077 | SGCD | c.265C>T (p.Leu89Phe) c.262C>T (p.Leu88Phe) c.*129C>T (n.*129C>T) | |
5 | g.156508674T>A | CA362008078 | SGCD | c.266T>A (p.Leu89His) c.263T>A (p.Leu88His) c.*130T>A (n.*130T>A) | |
5 | g.156508674T>C | CA362008079 | SGCD | c.266T>C (p.Leu89Pro) c.263T>C (p.Leu88Pro) c.*130T>C (n.*130T>C) | |
5 | g.156508674T>G | CA362008080 | SGCD | c.266T>G (p.Leu89Arg) c.263T>G (p.Leu88Arg) c.*130T>G (n.*130T>G) | |
5 | g.156508675C>A | CA447387938 | SGCD | c.267C>A (p.Leu89=) c.264C>A (p.Leu88=) c.*131C>A (n.*131C>A) | gnomAD v4 |
5 | g.156508675C= | CA1593738846 | SGCD | c.267C= (p.Leu89=) c.264C= (p.Leu88=) c.*131C= (n.*131C=) | |
5 | g.156508675C>G | CA447387939 | SGCD | c.267C>G (p.Leu89=) c.264C>G (p.Leu88=) c.*131C>G (n.*131C>G) | ClinVar |
5 | g.156508675C>T | CA130613350 | SGCD | c.267C>T (p.Leu89=) c.264C>T (p.Leu88=) c.*131C>T (n.*131C>T) | dbSNP |
5 | g.156508676T>A | CA237510 | SGCD | c.268T>A (p.Tyr90Asn) c.265T>A (p.Tyr89Asn) c.*132T>A (n.*132T>A) | ClinVar dbSNP |
5 | g.156508676T>C | CA362008081 | SGCD | c.268T>C (p.Tyr90His) c.265T>C (p.Tyr89His) c.*132T>C (n.*132T>C) | |
5 | g.156508676T>G | CA362008082 | SGCD | c.268T>G (p.Tyr90Asp) c.265T>G (p.Tyr89Asp) c.*132T>G (n.*132T>G) | |
5 | g.156508676T= | CA1593738847 | SGCD | c.268T= (p.Tyr90=) c.265T= (p.Tyr89=) c.*132T= (n.*132T=) | |
5 | g.156508677A>C | CA362008083 | SGCD | c.269A>C (p.Tyr90Ser) c.266A>C (p.Tyr89Ser) c.*133A>C (n.*133A>C) | |
5 | g.156508677A>G | CA362008085 | SGCD | c.269A>G (p.Tyr90Cys) c.266A>G (p.Tyr89Cys) c.*133A>G (n.*133A>G) | |
5 | g.156508677A>T | CA362008084 | SGCD | c.269A>T (p.Tyr90Phe) c.266A>T (p.Tyr89Phe) c.*133A>T (n.*133A>T) | |
5 | g.156508677_156508680delinsACGC | CA1593738848 | SGCD | c.269_272delinsACGC (p.Tyr90=) c.266_269delinsACGC (p.Tyr89=) c.*133_*136delinsACGC (n.*133_*136delinsACGC) | |
5 | g.156508678C>A | CA362008086 | SGCD | c.270C>A (p.Tyr90Ter) c.267C>A (p.Tyr89Ter) c.*134C>A (n.*134C>A) | dbSNP gnomAD v4 |
5 | g.156508678C= | CA1593738849 | SGCD | c.270C= (p.Tyr90=) c.267C= (p.Tyr89=) c.*134C= (n.*134C=) | |
5 | g.156508678C>G | CA362008087 | SGCD | c.270C>G (p.Tyr90Ter) c.267C>G (p.Tyr89Ter) c.*134C>G (n.*134C>G) | |
5 | g.156508678C>T | CA3530546 | SGCD | c.270C>T (p.Tyr90=) c.267C>T (p.Tyr89=) c.*134C>T (n.*134C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508679_156508681del | CA3530545 | SGCD | c.271_273del (p.Ala91del) c.268_270del (p.Ala90del) c.*135_*137del (n.*135_*137del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.156508679G>A | CA130613351 | SGCD | c.271G>A (p.Ala91Thr) c.268G>A (p.Ala90Thr) c.*135G>A (n.*135G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508679G>C | CA362008088 | SGCD | c.271G>C (p.Ala91Pro) c.268G>C (p.Ala90Pro) c.*135G>C (n.*135G>C) | gnomAD v4 |
5 | g.156508679G= | CA1593738850 | SGCD | c.271G= (p.Ala91=) c.268G= (p.Ala90=) c.*135G= (n.*135G=) | |
5 | g.156508679G>T | CA362008089 | SGCD | c.271G>T (p.Ala91Ser) c.268G>T (p.Ala90Ser) c.*135G>T (n.*135G>T) | |
5 | g.156508680C>A | CA362008090 | SGCD | c.272C>A (p.Ala91Asp) c.269C>A (p.Ala90Asp) c.*136C>A (n.*136C>A) | dbSNP |
5 | g.156508680C>G | CA362008091 | SGCD | c.272C>G (p.Ala91Gly) c.269C>G (p.Ala90Gly) c.*136C>G (n.*136C>G) | |
5 | g.156508680C>T | CA362008092 | SGCD | c.272C>T (p.Ala91Val) c.269C>T (p.Ala90Val) c.*136C>T (n.*136C>T) | |
5 | g.156508681C>A | CA447387940 | SGCD | c.273C>A (p.Ala91=) c.270C>A (p.Ala90=) c.*137C>A (n.*137C>A) | gnomAD v4 |
5 | g.156508681C= | CA1593738851 | SGCD | c.273C= (p.Ala91=) c.270C= (p.Ala90=) c.*137C= (n.*137C=) | |
5 | g.156508681C>G | CA447387941 | SGCD | c.273C>G (p.Ala91=) c.270C>G (p.Ala90=) c.*137C>G (n.*137C>G) | |
5 | g.156508681C>T | CA447387942 | SGCD | c.273C>T (p.Ala91=) c.270C>T (p.Ala90=) c.*137C>T (n.*137C>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.156508682A= | CA1593738852 | SGCD | c.274A= (p.Lys92=) c.271A= (p.Lys91=) c.*138A= (n.*138A=) | |
5 | g.156508682A>C | CA362008093 | SGCD | c.274A>C (p.Lys92Gln) c.271A>C (p.Lys91Gln) c.*138A>C (n.*138A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.156508682A>G | CA362008095 | SGCD | c.274A>G (p.Lys92Glu) c.271A>G (p.Lys91Glu) c.*138A>G (n.*138A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.156508682A>T | CA362008094 | SGCD | c.274A>T (p.Lys92Ter) c.271A>T (p.Lys91Ter) c.*138A>T (n.*138A>T) | |
5 | g.156508683A= | CA1593738853 | SGCD | c.275A= (p.Lys92=) c.272A= (p.Lys91=) c.*139A= (n.*139A=) | |
5 | g.156508683A>C | CA362008096 | SGCD | c.275A>C (p.Lys92Thr) c.272A>C (p.Lys91Thr) c.*139A>C (n.*139A>C) | gnomAD v4 |
5 | g.156508683A>G | CA362008097 | SGCD | c.275A>G (p.Lys92Arg) c.272A>G (p.Lys91Arg) c.*139A>G (n.*139A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.156508683A>T | CA362008098 | SGCD | c.275A>T (p.Lys92Ile) c.272A>T (p.Lys91Ile) c.*139A>T (n.*139A>T) | COSMIC COSMIC |
5 | g.156508684_156508685insCAA | CA2769044678 | SGCD | c.276_277insCAA (p.Lys92_Glu93insGln) c.273_274insCAA (p.Lys91_Glu92insGln) c.*140_*141insCAA (n.*140_*141insCAA) | |
5 | g.156508684A>C | CA362008099 | SGCD | c.276A>C (p.Lys92Asn) c.273A>C (p.Lys91Asn) c.*140A>C (n.*140A>C) | |
5 | g.156508684A>G | CA447387943 | SGCD | c.276A>G (p.Lys92=) c.273A>G (p.Lys91=) c.*140A>G (n.*140A>G) | |
5 | g.156508684A>T | CA362008100 | SGCD | c.276A>T (p.Lys92Asn) c.273A>T (p.Lys91Asn) c.*140A>T (n.*140A>T) | |
5 | g.156508685G>A | CA362008101 | SGCD | c.277G>A (p.Glu93Lys) c.274G>A (p.Glu92Lys) c.*141G>A (n.*141G>A) | |
5 | g.156508685G>C | CA362008102 | SGCD | c.277G>C (p.Glu93Gln) c.274G>C (p.Glu92Gln) c.*141G>C (n.*141G>C) | gnomAD v4 COSMIC COSMIC |
5 | g.156508685G>T | CA362008103 | SGCD | c.277G>T (p.Glu93Ter) c.274G>T (p.Glu92Ter) c.*141G>T (n.*141G>T) | |
5 | g.156508686A>C | CA362008105 | SGCD | c.278A>C (p.Glu93Ala) c.275A>C (p.Glu92Ala) c.*142A>C (n.*142A>C) | |
5 | g.156508686A>G | CA362008106 | SGCD | c.278A>G (p.Glu93Gly) c.275A>G (p.Glu92Gly) c.*142A>G (n.*142A>G) | |
5 | g.156508686A>T | CA362008104 | SGCD | c.278A>T (p.Glu93Val) c.275A>T (p.Glu92Val) c.*142A>T (n.*142A>T) | |
5 | g.156508687A>C | CA362008107 | SGCD | c.279A>C (p.Glu93Asp) c.276A>C (p.Glu92Asp) c.*143A>C (n.*143A>C) | |
5 | g.156508687A>G | CA447387944 | SGCD | c.279A>G (p.Glu93=) c.276A>G (p.Glu92=) c.*143A>G (n.*143A>G) | |
5 | g.156508687A>T | CA362008108 | SGCD | c.279A>T (p.Glu93Asp) c.276A>T (p.Glu92Asp) c.*143A>T (n.*143A>T) | |
5 | g.156508688A>C | CA362008109 | SGCD | c.280A>C (p.Ile94Leu) c.277A>C (p.Ile93Leu) c.*144A>C (n.*144A>C) | |
5 | g.156508688A>G | CA362008111 | SGCD | c.280A>G (p.Ile94Val) c.277A>G (p.Ile93Val) c.*144A>G (n.*144A>G) | |
5 | g.156508688A>T | CA362008110 | SGCD | c.280A>T (p.Ile94Phe) c.277A>T (p.Ile93Phe) c.*144A>T (n.*144A>T) | |
5 | g.156508689T>A | CA362008112 | SGCD | c.281T>A (p.Ile94Asn) c.278T>A (p.Ile93Asn) c.*145T>A (n.*145T>A) | |
5 | g.156508689T>C | CA130613352 | SGCD | c.281T>C (p.Ile94Thr) c.278T>C (p.Ile93Thr) c.*145T>C (n.*145T>C) | dbSNP gnomAD v4 |
5 | g.156508689T>G | CA362008113 | SGCD | c.281T>G (p.Ile94Ser) c.278T>G (p.Ile93Ser) c.*145T>G (n.*145T>G) | |
5 | g.156508689T= | CA1593738854 | SGCD | c.281T= (p.Ile94=) c.278T= (p.Ile93=) c.*145T= (n.*145T=) | |
5 | g.156508690C>A | CA447387945 | SGCD | c.282C>A (p.Ile94=) c.279C>A (p.Ile93=) c.*146C>A (n.*146C>A) | ClinVar gnomAD v4 |
5 | g.156508690C= | CA1593738855 | SGCD | c.282C= (p.Ile94=) c.279C= (p.Ile93=) c.*146C= (n.*146C=) | |
5 | g.156508690C>G | CA362008114 | SGCD | c.282C>G (p.Ile94Met) c.279C>G (p.Ile93Met) c.*146C>G (n.*146C>G) | |
5 | g.156508690C>T | CA3530547 | SGCD | c.282C>T (p.Ile94=) c.279C>T (p.Ile93=) c.*146C>T (n.*146C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.156508691del | CA2676178099 | SGCD | c.283del (p.Gln95SerfsTer18) c.280del (p.Gln94SerfsTer18) c.*147del (n.*147del) | gnomAD v4 |
5 | g.156508691C>A | CA362008115 | SGCD | c.283C>A (p.Gln95Lys) c.280C>A (p.Gln94Lys) c.*147C>A (n.*147C>A) | |
5 | g.156508691C>G | CA362008116 | SGCD | c.283C>G (p.Gln95Glu) c.280C>G (p.Gln94Glu) c.*147C>G (n.*147C>G) | |
5 | g.156508691C>T | CA362008117 | SGCD | c.283C>T (p.Gln95Ter) c.280C>T (p.Gln94Ter) c.*147C>T (n.*147C>T) | |
5 | g.156508692A>C | CA362008120 | SGCD | c.284A>C (p.Gln95Pro) c.281A>C (p.Gln94Pro) c.*148A>C (n.*148A>C) | |
5 | g.156508692A>G | CA362008119 | SGCD | c.284A>G (p.Gln95Arg) c.281A>G (p.Gln94Arg) c.*148A>G (n.*148A>G) | |
5 | g.156508692A>T | CA362008118 | SGCD | c.284A>T (p.Gln95Leu) c.281A>T (p.Gln94Leu) c.*148A>T (n.*148A>T) | |
5 | g.156508693G>A | CA447387946 | SGCD | c.285G>A (p.Gln95=) c.282G>A (p.Gln94=) c.*149G>A (n.*149G>A) | gnomAD v4 |
5 | g.156508693G>C | CA362008121 | SGCD | c.285G>C (p.Gln95His) c.282G>C (p.Gln94His) c.*149G>C (n.*149G>C) | ClinVar dbSNP |
5 | g.156508693G= | CA1593738856 | SGCD | c.285G= (p.Gln95=) c.282G= (p.Gln94=) c.*149G= (n.*149G=) | |
5 | g.156508693G>T | CA362008122 | SGCD | c.285G>T (p.Gln95His) c.282G>T (p.Gln94His) c.*149G>T (n.*149G>T) | dbSNP gnomAD v2 |
5 | g.156508694T>A | CA362008123 | SGCD | c.286T>A (p.Ser96Thr) c.283T>A (p.Ser95Thr) c.*150T>A (n.*150T>A) | |
5 | g.156508694T>C | CA362008124 | SGCD | c.286T>C (p.Ser96Pro) c.283T>C (p.Ser95Pro) c.*150T>C (n.*150T>C) | gnomAD v4 |
5 | g.156508694T>G | CA362008125 | SGCD | c.286T>G (p.Ser96Ala) c.283T>G (p.Ser95Ala) c.*150T>G (n.*150T>G) | gnomAD v4 |
5 | g.156508695C>A | CA362008126 | SGCD | c.287C>A (p.Ser96Tyr) c.284C>A (p.Ser95Tyr) c.*151C>A (n.*151C>A) | gnomAD v4 |
5 | g.156508695C>G | CA362008127 | SGCD | c.287C>G (p.Ser96Cys) c.284C>G (p.Ser95Cys) c.*151C>G (n.*151C>G) | |
5 | g.156508695C>T | CA362008128 | SGCD | c.287C>T (p.Ser96Phe) c.284C>T (p.Ser95Phe) c.*151C>T (n.*151C>T) | gnomAD v4 COSMIC |
5 | g.156508697del | CA2676178100 | SGCD | c.289del (p.Arg97AspfsTer16) c.286del (p.Arg96AspfsTer16) c.*153del (n.*153del) | gnomAD v4 |
5 | g.156508696C>A | CA3530548 | SGCD | c.288C>A (p.Ser96=) c.285C>A (p.Ser95=) c.*152C>A (n.*152C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508696C= | CA1593738857 | SGCD | c.288C= (p.Ser96=) c.285C= (p.Ser95=) c.*152C= (n.*152C=) | |
5 | g.156508696C>G | CA447387948 | SGCD | c.288C>G (p.Ser96=) c.285C>G (p.Ser95=) c.*152C>G (n.*152C>G) | |
5 | g.156508696C>T | CA447387947 | SGCD | c.288C>T (p.Ser96=) c.285C>T (p.Ser95=) c.*152C>T (n.*152C>T) | ClinVar dbSNP COSMIC |
5 | g.156508697C>A | CA447387949 | SGCD | c.289C>A (p.Arg97=) c.286C>A (p.Arg96=) c.*153C>A (n.*153C>A) | ClinVar gnomAD v4 COSMIC |
5 | g.156508697C= | CA1593738858 | SGCD | c.289C= (p.Arg97=) c.286C= (p.Arg96=) c.*153C= (n.*153C=) | |
5 | g.156508697C>G | CA362008129 | SGCD | c.289C>G (p.Arg97Gly) c.286C>G (p.Arg96Gly) c.*153C>G (n.*153C>G) | |
5 | g.156508697C>T | CA3530549 | SGCD | c.289C>T (p.Arg97Ter) c.286C>T (p.Arg96Ter) c.*153C>T (n.*153C>T) | ClinVar dbSNP ExAC gnomAD v4 |
5 | g.156508698G>A | CA142625 | SGCD | c.290G>A (p.Arg97Gln) c.287G>A (p.Arg96Gln) c.*154G>A (n.*154G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508698G>C | CA362008130 | SGCD | c.290G>C (p.Arg97Pro) c.287G>C (p.Arg96Pro) c.*154G>C (n.*154G>C) | gnomAD v4 |
5 | g.156508698G= | CA1593738859 | SGCD | c.290G= (p.Arg97=) c.287G= (p.Arg96=) c.*154G= (n.*154G=) | |
5 | g.156508698G>T | CA362008131 | SGCD | c.290G>T (p.Arg97Leu) c.287G>T (p.Arg96Leu) c.*154G>T (n.*154G>T) | gnomAD v4 |
5 | g.156508699del | CA2676178101 | SGCD | c.291del (p.Pro98GlnfsTer15) c.288del (p.Pro97GlnfsTer15) c.*155del (n.*155del) | gnomAD v4 |
5 | g.156508699A= | CA1593738860 | SGCD | c.291A= (p.Arg97=) c.288A= (p.Arg96=) c.*155A= (n.*155A=) | |
5 | g.156508699A>C | CA447387951 | SGCD | c.291A>C (p.Arg97=) c.288A>C (p.Arg96=) c.*155A>C (n.*155A>C) | |
5 | g.156508699A>G | CA447387952 | SGCD | c.291A>G (p.Arg97=) c.288A>G (p.Arg96=) c.*155A>G (n.*155A>G) | dbSNP gnomAD v4 |
5 | g.156508699A>T | CA447387953 | SGCD | c.291A>T (p.Arg97=) c.288A>T (p.Arg96=) c.*155A>T (n.*155A>T) | gnomAD v4 |
5 | g.156508700C>A | CA362008132 | SGCD | c.292C>A (p.Pro98Thr) c.289C>A (p.Pro97Thr) c.*156C>A (n.*156C>A) | dbSNP gnomAD v4 |
5 | g.156508700C= | CA1593738861 | SGCD | c.292C= (p.Pro98=) c.289C= (p.Pro97=) c.*156C= (n.*156C=) | |
5 | g.156508700C>G | CA362008133 | SGCD | c.292C>G (p.Pro98Ala) c.289C>G (p.Pro97Ala) c.*156C>G (n.*156C>G) | |
5 | g.156508700C>T | CA362008134 | SGCD | c.292C>T (p.Pro98Ser) c.289C>T (p.Pro97Ser) c.*156C>T (n.*156C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508701del | CA2676178102 | SGCD | c.293del (p.Pro98GlnfsTer15) c.290del (p.Pro97GlnfsTer15) c.*157del (n.*157del) | gnomAD v4 |
5 | g.156508701C>A | CA362008135 | SGCD | c.293C>A (p.Pro98Gln) c.290C>A (p.Pro97Gln) c.*157C>A (n.*157C>A) | gnomAD v4 |
5 | g.156508701C>G | CA362008136 | SGCD | c.293C>G (p.Pro98Arg) c.290C>G (p.Pro97Arg) c.*157C>G (n.*157C>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.156508701C>T | CA362008137 | SGCD | c.293C>T (p.Pro98Leu) c.290C>T (p.Pro97Leu) c.*157C>T (n.*157C>T) | |
5 | g.156508702A= | CA1593738862 | SGCD | c.294A= (p.Pro98=) c.291A= (p.Pro97=) c.*158A= (n.*158A=) | |
5 | g.156508702A>C | CA447387957 | SGCD | c.294A>C (p.Pro98=) c.291A>C (p.Pro97=) c.*158A>C (n.*158A>C) | |
5 | g.156508702A>G | CA447387955 | SGCD | c.294A>G (p.Pro98=) c.291A>G (p.Pro97=) c.*158A>G (n.*158A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.156508702A>T | CA447387956 | SGCD | c.294A>T (p.Pro98=) c.291A>T (p.Pro97=) c.*158A>T (n.*158A>T) | |
5 | g.156508703G>A | CA346112 | SGCD | c.294+1G>A (n.294+1G>A) c.291+1G>A (n.291+1G>A) c.*158+1G>A (n.*158+1G>A) | ClinVar dbSNP gnomAD v4 |
5 | g.156508703G>C | CA362008139 | SGCD | c.294+1G>C (n.294+1G>C) c.291+1G>C (n.291+1G>C) c.*158+1G>C (n.*158+1G>C) | |
5 | g.156508703G= | CA1593738863 | SGCD | c.294+1G= (n.294+1G=) c.291+1G= (n.291+1G=) c.*158+1G= (n.*158+1G=) | |
5 | g.156508703G>T | CA362008138 | SGCD | c.294+1G>T (n.294+1G>T) c.291+1G>T (n.291+1G>T) c.*158+1G>T (n.*158+1G>T) | |
5 | g.156508704T>A | CA362008140 | SGCD | c.294+2T>A (n.294+2T>A) c.291+2T>A (n.291+2T>A) c.*158+2T>A (n.*158+2T>A) | gnomAD v4 |
5 | g.156508704T>C | CA362008141 | SGCD | c.294+2T>C (n.294+2T>C) c.291+2T>C (n.291+2T>C) c.*158+2T>C (n.*158+2T>C) | dbSNP gnomAD v4 |
5 | g.156508704T>G | CA362008142 | SGCD | c.294+2T>G (n.294+2T>G) c.291+2T>G (n.291+2T>G) c.*158+2T>G (n.*158+2T>G) | |
5 | g.156508704T= | CA1593738864 | SGCD | c.294+2T= (n.294+2T=) c.291+2T= (n.291+2T=) c.*158+2T= (n.*158+2T=) | |
5 | g.156508705A= | CA1593738865 | SGCD | c.294+3A= (n.294+3A=) c.291+3A= (n.291+3A=) c.*158+3A= (n.*158+3A=) | |
5 | g.156508705A>G | CA130613353 | SGCD | c.294+3A>G (n.294+3A>G) c.291+3A>G (n.291+3A>G) c.*158+3A>G (n.*158+3A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.156508706del | CA2676178103 | SGCD | c.294+4del (n.294+4del) c.291+4del (n.291+4del) c.*158+4del (n.*158+4del) | gnomAD v4 |
5 | g.156508706A>G | CA2676178104 | SGCD | c.294+4A>G (n.294+4A>G) c.291+4A>G (n.291+4A>G) c.*158+4A>G (n.*158+4A>G) | gnomAD v4 |
5 | g.156508707G>A | CA2676178105 | SGCD | c.294+5G>A (n.294+5G>A) c.291+5G>A (n.291+5G>A) c.*158+5G>A (n.*158+5G>A) | gnomAD v4 |
5 | g.156508708_156508727del | CA2578464707 | SGCD | c.294+6_294+25del (n.294+6_294+25del) c.291+6_291+25del (n.291+6_291+25del) c.*158+6_*158+25del (n.*158+6_*158+25del) | gnomAD v4 |
5 | g.156508708T>C | CA2676178106 | SGCD | c.294+6T>C (n.294+6T>C) c.291+6T>C (n.291+6T>C) c.*158+6T>C (n.*158+6T>C) | gnomAD v4 |
5 | g.156508709T>C | CA2676178107 | SGCD | c.294+7T>C (n.294+7T>C) c.291+7T>C (n.291+7T>C) c.*158+7T>C (n.*158+7T>C) | gnomAD v4 |
5 | g.156508710T>A | CA2581515107 | SGCD | c.294+8T>A (n.294+8T>A) c.291+8T>A (n.291+8T>A) c.*158+8T>A (n.*158+8T>A) | |
5 | g.156508710T>C | CA142629 | SGCD | c.294+8T>C (n.294+8T>C) c.291+8T>C (n.291+8T>C) c.*158+8T>C (n.*158+8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508710T>G | CA2581515106 | SGCD | c.294+8T>G (n.294+8T>G) c.291+8T>G (n.291+8T>G) c.*158+8T>G (n.*158+8T>G) | |
5 | g.156508710T= | CA1593738866 | SGCD | c.294+8T= (n.294+8T=) c.291+8T= (n.291+8T=) c.*158+8T= (n.*158+8T=) | |
5 | g.156508711C>A | CA2676178108 | SGCD | c.294+9C>A (n.294+9C>A) c.291+9C>A (n.291+9C>A) c.*158+9C>A (n.*158+9C>A) | gnomAD v4 |
5 | g.156508712T>A | CA2676178109 | SGCD | c.294+10T>A (n.294+10T>A) c.291+10T>A (n.291+10T>A) c.*158+10T>A (n.*158+10T>A) | gnomAD v4 |
5 | g.156508712T>C | CA2676178110 | SGCD | c.294+10T>C (n.294+10T>C) c.291+10T>C (n.291+10T>C) c.*158+10T>C (n.*158+10T>C) | gnomAD v4 |
5 | g.156508713G>A | CA3530550 | SGCD | c.294+11G>A (n.294+11G>A) c.291+11G>A (n.291+11G>A) c.*158+11G>A (n.*158+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.156508713G= | CA1593738867 | SGCD | c.294+11G= (n.294+11G=) c.291+11G= (n.291+11G=) c.*158+11G= (n.*158+11G=) | |
5 | g.156508714C>A | CA2676178111 | SGCD | c.294+12C>A (n.294+12C>A) c.291+12C>A (n.291+12C>A) c.*158+12C>A (n.*158+12C>A) | gnomAD v4 |
5 | g.156508714C= | CA1593738868 | SGCD | c.294+12C= (n.294+12C=) c.291+12C= (n.291+12C=) c.*158+12C= (n.*158+12C=) | |
5 | g.156508714C>T | CA130613354 | SGCD | c.294+12C>T (n.294+12C>T) c.291+12C>T (n.291+12C>T) c.*158+12C>T (n.*158+12C>T) | dbSNP gnomAD v4 |
5 | g.156508715T>C | CA3530551 | SGCD | c.294+13T>C (n.294+13T>C) c.291+13T>C (n.291+13T>C) c.*158+13T>C (n.*158+13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.156508715T= | CA1593738869 | SGCD | c.294+13T= (n.294+13T=) c.291+13T= (n.291+13T=) c.*158+13T= (n.*158+13T=) | |
5 | g.156508717A= | CA1593738870 | SGCD | c.294+15A= (n.294+15A=) c.291+15A= (n.291+15A=) c.*158+15A= (n.*158+15A=) | |
5 | g.156508717A>C | CA3530552 | SGCD | c.294+15A>C (n.294+15A>C) c.291+15A>C (n.291+15A>C) c.*158+15A>C (n.*158+15A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508718G>A | CA2676178112 | SGCD | c.294+16G>A (n.294+16G>A) c.291+16G>A (n.291+16G>A) c.*158+16G>A (n.*158+16G>A) | gnomAD v4 |
5 | g.156508718G>C | CA3530553 | SGCD | c.294+16G>C (n.294+16G>C) c.291+16G>C (n.291+16G>C) c.*158+16G>C (n.*158+16G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.156508718G= | CA1593738871 | SGCD | c.294+16G= (n.294+16G=) c.291+16G= (n.291+16G=) c.*158+16G= (n.*158+16G=) | |
5 | g.156508719A>G | CA2676178113 | SGCD | c.294+17A>G (n.294+17A>G) c.291+17A>G (n.291+17A>G) c.*158+17A>G (n.*158+17A>G) | gnomAD v4 |
5 | g.156508720G>A | CA3530554 | SGCD | c.294+18G>A (n.294+18G>A) c.291+18G>A (n.291+18G>A) c.*158+18G>A (n.*158+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.156508720G= | CA1593738872 | SGCD | c.294+18G= (n.294+18G=) c.291+18G= (n.291+18G=) c.*158+18G= (n.*158+18G=) | |
5 | g.156508722A= | CA1593738873 | SGCD | c.294+20A= (n.294+20A=) c.291+20A= (n.291+20A=) c.*158+20A= (n.*158+20A=) | |
5 | g.156508722A>G | CA1593738874 | SGCD | c.294+20A>G (n.294+20A>G) c.291+20A>G (n.291+20A>G) c.*158+20A>G (n.*158+20A>G) | ClinVar dbSNP |