Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.151266799del | CA2695202754 | GM2A | c.312del (p.Ser105AlafsTer14) c.187del c.357del (p.Ser120AlafsTer14) | |
5 | g.151266799C>A | CA447180320 | GM2A | c.312C>A (p.Gly104=) c.187C>A c.357C>A (p.Gly119=) | |
5 | g.151266799C= | CA1591314945 | GM2A | c.312C= (p.Gly104=) c.187C= c.357C= (p.Gly119=) | |
5 | g.151266799C>G | CA447180321 | GM2A | c.312C>G (p.Gly104=) c.187C>G c.357C>G (p.Gly119=) | |
5 | g.151266799C>T | CA447180322 | GM2A | c.312C>T (p.Gly104=) c.187C>T c.357C>T (p.Gly119=) | dbSNP gnomAD v4 |
5 | g.151266800A>C | CA361807887 | GM2A | c.313A>C (p.Ser105Arg) c.188A>C c.358A>C (p.Ser120Arg) | |
5 | g.151266800A>G | CA361807894 | GM2A | c.313A>G (p.Ser105Gly) c.188A>G c.358A>G (p.Ser120Gly) | gnomAD v4 |
5 | g.151266800A>T | CA361807897 | GM2A | c.313A>T (p.Ser105Cys) c.188A>T c.358A>T (p.Ser120Cys) | |
5 | g.151266801G>A | CA361807904 | GM2A | c.314G>A (p.Ser105Asn) c.189G>A c.359G>A (p.Ser120Asn) | gnomAD v4 |
5 | g.151266801G>C | CA361807901 | GM2A | c.314G>C (p.Ser105Thr) c.189G>C c.359G>C (p.Ser120Thr) | gnomAD v4 |
5 | g.151266801G>T | CA361807899 | GM2A | c.314G>T (p.Ser105Ile) c.189G>T c.359G>T (p.Ser120Ile) | gnomAD v4 |
5 | g.151266802C>A | CA361807906 | GM2A | c.315C>A (p.Ser105Arg) c.190C>A c.360C>A (p.Ser120Arg) | |
5 | g.151266802C= | CA1591314946 | GM2A | c.315C= (p.Ser105=) c.190C= c.360C= (p.Ser120=) | |
5 | g.151266802C>G | CA361807908 | GM2A | c.315C>G (p.Ser105Arg) c.190C>G c.360C>G (p.Ser120Arg) | dbSNP gnomAD v2 |
5 | g.151266802C>T | CA129899355 | GM2A | c.315C>T (p.Ser105=) c.190C>T c.360C>T (p.Ser120=) | ClinVar dbSNP gnomAD v4 |
5 | g.151266803T>A | CA361807909 | GM2A | c.316T>A (p.Cys106Ser) c.191T>A c.361T>A (p.Cys121Ser) | |
5 | g.151266803T>C | CA361807913 | GM2A | c.316T>C (p.Cys106Arg) c.191T>C c.361T>C (p.Cys121Arg) | |
5 | g.151266803T>G | CA361807914 | GM2A | c.316T>G (p.Cys106Gly) c.191T>G c.361T>G (p.Cys121Gly) | |
5 | g.151266803_151266816delinsTGTACCTTTGAACA | CA1591314947 | GM2A | c.316_329delinsTGTACCTTTGAACA (p.Cys106=) c.191_204delinsTGTACCTTTGAACA c.361_374delinsTGTACCTTTGAACA (p.Cys121=) | |
5 | g.151266804G>A | CA361807915 | GM2A | c.317G>A (p.Cys106Tyr) c.192G>A c.362G>A (p.Cys121Tyr) | |
5 | g.151266804G>C | CA361807916 | GM2A | c.317G>C (p.Cys106Ser) c.192G>C c.362G>C (p.Cys121Ser) | |
5 | g.151266804G>T | CA361807918 | GM2A | c.317G>T (p.Cys106Phe) c.192G>T c.362G>T (p.Cys121Phe) | |
5 | g.151266804_151266816del | CA563957703 | GM2A | c.317_329del (p.Cys106SerfsTer9) c.192_204del c.362_374del (p.Cys121SerfsTer9) | dbSNP gnomAD v2 |
5 | g.151266805T>A | CA361807921 | GM2A | c.318T>A (p.Cys106Ter) c.193T>A c.363T>A (p.Cys121Ter) | |
5 | g.151266805T>C | CA447180324 | GM2A | c.318T>C (p.Cys106=) c.193T>C c.363T>C (p.Cys121=) | gnomAD v4 |
5 | g.151266805T>G | CA361807923 | GM2A | c.318T>G (p.Cys106Trp) c.193T>G c.363T>G (p.Cys121Trp) | |
5 | g.151266806A>C | CA361807927 | GM2A | c.319A>C (p.Thr107Pro) c.194A>C c.364A>C (p.Thr122Pro) | |
5 | g.151266806A>G | CA361807929 | GM2A | c.319A>G (p.Thr107Ala) c.194A>G c.364A>G (p.Thr122Ala) | |
5 | g.151266806A>T | CA361807931 | GM2A | c.319A>T (p.Thr107Ser) c.194A>T c.364A>T (p.Thr122Ser) | |
5 | g.151266807C>A | CA361807936 | GM2A | c.320C>A (p.Thr107Asn) c.195C>A c.365C>A (p.Thr122Asn) | gnomAD v4 |
5 | g.151266807C>G | CA361807933 | GM2A | c.320C>G (p.Thr107Ser) c.195C>G c.365C>G (p.Thr122Ser) | |
5 | g.151266807C>T | CA361807934 | GM2A | c.320C>T (p.Thr107Ile) c.195C>T c.365C>T (p.Thr122Ile) | |
5 | g.151266808C>A | CA447180331 | GM2A | c.321C>A (p.Thr107=) c.196C>A c.366C>A (p.Thr122=) | |
5 | g.151266808C= | CA1591314948 | GM2A | c.321C= (p.Thr107=) c.196C= c.366C= (p.Thr122=) | |
5 | g.151266808C>G | CA447180332 | GM2A | c.321C>G (p.Thr107=) c.196C>G c.366C>G (p.Thr122=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151266808C>T | CA3517927 | GM2A | c.321C>T (p.Thr107=) c.196C>T c.366C>T (p.Thr122=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151266809T>A | CA361807939 | GM2A | c.322T>A (p.Phe108Ile) c.197T>A c.367T>A (p.Phe123Ile) | |
5 | g.151266809T>C | CA361807942 | GM2A | c.322T>C (p.Phe108Leu) c.197T>C c.367T>C (p.Phe123Leu) | |
5 | g.151266809T>G | CA361807944 | GM2A | c.322T>G (p.Phe108Val) c.197T>G c.367T>G (p.Phe123Val) | |
5 | g.151266810T>A | CA361807946 | GM2A | c.323T>A (p.Phe108Tyr) c.198T>A c.368T>A (p.Phe123Tyr) | dbSNP |
5 | g.151266810T>C | CA361807949 | GM2A | c.323T>C (p.Phe108Ser) c.198T>C c.368T>C (p.Phe123Ser) | gnomAD v4 |
5 | g.151266810T>G | CA361807951 | GM2A | c.323T>G (p.Phe108Cys) c.198T>G c.368T>G (p.Phe123Cys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151266810T= | CA1591314949 | GM2A | c.323T= (p.Phe108=) c.198T= c.368T= (p.Phe123=) | |
5 | g.151266811T>A | CA361807954 | GM2A | c.324T>A (p.Phe108Leu) c.199T>A c.369T>A (p.Phe123Leu) | |
5 | g.151266811T>C | CA447180334 | GM2A | c.324T>C (p.Phe108=) c.199T>C c.369T>C (p.Phe123=) | gnomAD v4 |
5 | g.151266811T>G | CA361807956 | GM2A | c.324T>G (p.Phe108Leu) c.199T>G c.369T>G (p.Phe123Leu) | |
5 | g.151266812G>A | CA361807957 | GM2A | c.325G>A (p.Glu109Lys) c.200G>A c.370G>A (p.Glu124Lys) | |
5 | g.151266812G>C | CA361807958 | GM2A | c.325G>C (p.Glu109Gln) c.200G>C c.370G>C (p.Glu124Gln) | |
5 | g.151266812G>T | CA361807959 | GM2A | c.325G>T (p.Glu109Ter) c.200G>T c.370G>T (p.Glu124Ter) | |
5 | g.151266813A= | CA1591314950 | GM2A | c.326A= (p.Glu109=) c.201A= c.371A= (p.Glu124=) |