Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.156508613A>C | CA362007943 | SGCD | c.205A>C (p.Asn69His) c.202A>C (p.Asn68His) c.*69A>C (n.*69A>C) | |
5 | g.156508613A>G | CA362007941 | SGCD | c.205A>G (p.Asn69Asp) c.202A>G (p.Asn68Asp) c.*69A>G (n.*69A>G) | |
5 | g.156508613A>T | CA362007942 | SGCD | c.205A>T (p.Asn69Tyr) c.202A>T (p.Asn68Tyr) c.*69A>T (n.*69A>T) | |
5 | g.156508614A= | CA1593738825 | SGCD | c.206A= (p.Asn69=) c.203A= (p.Asn68=) c.*70A= (n.*70A=) | |
5 | g.156508614A>C | CA362007944 | SGCD | c.206A>C (p.Asn69Thr) c.203A>C (p.Asn68Thr) c.*70A>C (n.*70A>C) | |
5 | g.156508614A>G | CA362007945 | SGCD | c.206A>G (p.Asn69Ser) c.203A>G (p.Asn68Ser) c.*70A>G (n.*70A>G) | |
5 | g.156508614A>T | CA362007946 | SGCD | c.206A>T (p.Asn69Ile) c.203A>T (p.Asn68Ile) c.*70A>T (n.*70A>T) | |
5 | g.156508614_156508615insT | CA563931213 | SGCD | c.206_207insT (p.Leu70ProfsTer15) c.203_204insT (p.Leu69ProfsTer15) c.*70_*71insT (n.*70_*71insT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508615C>A | CA362007947 | SGCD | c.207C>A (p.Asn69Lys) c.204C>A (p.Asn68Lys) c.*71C>A (n.*71C>A) | |
5 | g.156508615C= | CA1593738826 | SGCD | c.207C= (p.Asn69=) c.204C= (p.Asn68=) c.*71C= (n.*71C=) | |
5 | g.156508615C>G | CA362007948 | SGCD | c.207C>G (p.Asn69Lys) c.204C>G (p.Asn68Lys) c.*71C>G (n.*71C>G) | |
5 | g.156508615C>T | CA447387902 | SGCD | c.207C>T (p.Asn69=) c.204C>T (p.Asn68=) c.*71C>T (n.*71C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508616C>A | CA362007949 | SGCD | c.208C>A (p.Leu70Met) c.205C>A (p.Leu69Met) c.*72C>A (n.*72C>A) | gnomAD v4 |
5 | g.156508616C>G | CA362007950 | SGCD | c.208C>G (p.Leu70Val) c.205C>G (p.Leu69Val) c.*72C>G (n.*72C>G) | |
5 | g.156508616C>T | CA447387903 | SGCD | c.208C>T (p.Leu70=) c.205C>T (p.Leu69=) c.*72C>T (n.*72C>T) | |
5 | g.156508616_156508618delinsGT | CA2580073935 | SGCD | c.208_210delinsGT (p.Leu70ValfsTer8) c.205_207delinsGT (p.Leu69ValfsTer8) c.*72_*74delinsGT (n.*72_*74delinsGT) | ClinVar |
5 | g.156508617T>A | CA362007953 | SGCD | c.209T>A (p.Leu70Gln) c.206T>A (p.Leu69Gln) c.*73T>A (n.*73T>A) | |
5 | g.156508617T>C | CA362007952 | SGCD | c.209T>C (p.Leu70Pro) c.206T>C (p.Leu69Pro) c.*73T>C (n.*73T>C) | ClinVar dbSNP COSMIC |
5 | g.156508617T>G | CA362007951 | SGCD | c.209T>G (p.Leu70Arg) c.206T>G (p.Leu69Arg) c.*73T>G (n.*73T>G) | |
5 | g.156508617T= | CA1593738827 | SGCD | c.209T= (p.Leu70=) c.206T= (p.Leu69=) c.*73T= (n.*73T=) | |
5 | g.156508618G>A | CA447387906 | SGCD | c.210G>A (p.Leu70=) c.207G>A (p.Leu69=) c.*74G>A (n.*74G>A) | |
5 | g.156508618G>C | CA447387904 | SGCD | c.210G>C (p.Leu70=) c.207G>C (p.Leu69=) c.*74G>C (n.*74G>C) | |
5 | g.156508618G>T | CA447387905 | SGCD | c.210G>T (p.Leu70=) c.207G>T (p.Leu69=) c.*74G>T (n.*74G>T) | |
5 | g.156508619A>C | CA447387907 | SGCD | c.211A>C (p.Arg71=) c.208A>C (p.Arg70=) c.*75A>C (n.*75A>C) | |
5 | g.156508619A>G | CA362007954 | SGCD | c.211A>G (p.Arg71Gly) c.208A>G (p.Arg70Gly) c.*75A>G (n.*75A>G) | |
5 | g.156508619A>T | CA362007955 | SGCD | c.211A>T (p.Arg71Trp) c.208A>T (p.Arg70Trp) c.*75A>T (n.*75A>T) | |
5 | g.156508619_156508620delinsAG | CA1593738828 | SGCD | c.211_212delinsAG (p.Arg71=) c.208_209delinsAG (p.Arg70=) c.*75_*76delinsAG (n.*75_*76delinsAG) | |
5 | g.156508620G>A | CA362007956 | SGCD | c.212G>A (p.Arg71Lys) c.209G>A (p.Arg70Lys) c.*76G>A (n.*76G>A) | COSMIC COSMIC |
5 | g.156508620G>C | CA3530538 | SGCD | c.212G>C (p.Arg71Thr) c.209G>C (p.Arg70Thr) c.*76G>C (n.*76G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508620G= | CA1593738829 | SGCD | c.212G= (p.Arg71=) c.209G= (p.Arg70=) c.*76G= (n.*76G=) | |
5 | g.156508620G>T | CA362007957 | SGCD | c.212G>T (p.Arg71Met) c.209G>T (p.Arg70Met) c.*76G>T (n.*76G>T) | |
5 | g.156508621del | CA563931217 | SGCD | c.213del (p.Ile72SerfsTer6) c.210del (p.Ile71SerfsTer6) c.*77del (n.*77del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508621G>A | CA142621 | SGCD | c.213G>A (p.Arg71=) c.210G>A (p.Arg70=) c.*77G>A (n.*77G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156508621G>C | CA362007958 | SGCD | c.213G>C (p.Arg71Ser) c.210G>C (p.Arg70Ser) c.*77G>C (n.*77G>C) | |
5 | g.156508621G= | CA1593738830 | SGCD | c.213G= (p.Arg71=) c.210G= (p.Arg70=) c.*77G= (n.*77G=) | |
5 | g.156508621G>T | CA362007959 | SGCD | c.213G>T (p.Arg71Ser) c.210G>T (p.Arg70Ser) c.*77G>T (n.*77G>T) | |
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 |