Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.151259829_151259841del | CA2676067232 | GM2A | c.156_168del (p.Leu53ProfsTer8) c.31_43del c.201_213del (p.Leu68ProfsTer8) | gnomAD v4 |
5 | g.151259837C>A | CA361805902 | GM2A | c.164C>A (p.Pro55His) c.39C>A c.209C>A (p.Pro70His) | |
5 | g.151259837C= | CA1591312100 | GM2A | c.164C= (p.Pro55=) c.39C= c.209C= (p.Pro70=) | |
5 | g.151259837C>G | CA361805901 | GM2A | c.164C>G (p.Pro55Arg) c.39C>G c.209C>G (p.Pro70Arg) | dbSNP |
5 | g.151259837C>T | CA186039 | GM2A | c.164C>T (p.Pro55Leu) c.39C>T c.209C>T (p.Pro70Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151259838T>A | CA447179877 | GM2A | c.165T>A (p.Pro55=) c.40T>A c.210T>A (p.Pro70=) | |
5 | g.151259838T>C | CA447179878 | GM2A | c.165T>C (p.Pro55=) c.40T>C c.210T>C (p.Pro70=) | |
5 | g.151259838T>G | CA447179876 | GM2A | c.165T>G (p.Pro55=) c.40T>G c.210T>G (p.Pro70=) | |
5 | g.151259839G>A | CA361805903 | GM2A | c.166G>A (p.Asp56Asn) c.41G>A c.211G>A (p.Asp71Asn) | |
5 | g.151259839G>C | CA361805904 | GM2A | c.166G>C (p.Asp56His) c.41G>C c.211G>C (p.Asp71His) | |
5 | g.151259839G>T | CA361805905 | GM2A | c.166G>T (p.Asp56Tyr) c.41G>T c.211G>T (p.Asp71Tyr) | |
5 | g.151259840A>C | CA361805906 | GM2A | c.167A>C (p.Asp56Ala) c.42A>C c.212A>C (p.Asp71Ala) | |
5 | g.151259840A>G | CA361805907 | GM2A | c.167A>G (p.Asp56Gly) c.42A>G c.212A>G (p.Asp71Gly) | |
5 | g.151259840A>T | CA361805908 | GM2A | c.167A>T (p.Asp56Val) c.42A>T c.212A>T (p.Asp71Val) | |
5 | g.151259841C>A | CA361805909 | GM2A | c.168C>A (p.Asp56Glu) c.43C>A c.213C>A (p.Asp71Glu) | gnomAD v4 |
5 | g.151259841C>G | CA361805910 | GM2A | c.168C>G (p.Asp56Glu) c.43C>G c.213C>G (p.Asp71Glu) | |
5 | g.151259841C>T | CA447179879 | GM2A | c.168C>T (p.Asp56=) c.43C>T c.213C>T (p.Asp71=) | gnomAD v4 |
5 | g.151259844del | CA2547721968 | GM2A | c.171del (p.Ile58SerfsTer7) c.46del c.216del (p.Ile73SerfsTer7) | |
5 | g.151259842C>A | CA361805911 | GM2A | c.169C>A (p.Pro57Thr) c.44C>A c.214C>A (p.Pro72Thr) | |
5 | g.151259842C>G | CA361805913 | GM2A | c.169C>G (p.Pro57Ala) c.44C>G c.214C>G (p.Pro72Ala) | gnomAD v4 |
5 | g.151259842C>T | CA361805912 | GM2A | c.169C>T (p.Pro57Ser) c.44C>T c.214C>T (p.Pro72Ser) | |
5 | g.151259843C>A | CA361805914 | GM2A | c.170C>A (p.Pro57His) c.45C>A c.215C>A (p.Pro72His) | |
5 | g.151259843C= | CA1591312101 | GM2A | c.170C= (p.Pro57=) c.45C= c.215C= (p.Pro72=) | |
5 | g.151259843C>G | CA361805916 | GM2A | c.170C>G (p.Pro57Arg) c.45C>G c.215C>G (p.Pro72Arg) | dbSNP gnomAD v4 |
5 | g.151259843C>T | CA361805915 | GM2A | c.170C>T (p.Pro57Leu) c.45C>T c.215C>T (p.Pro72Leu) | |
5 | g.151259844C>A | CA447179882 | GM2A | c.171C>A (p.Pro57=) c.46C>A c.216C>A (p.Pro72=) | |
5 | g.151259844C>G | CA447179881 | GM2A | c.171C>G (p.Pro57=) c.46C>G c.216C>G (p.Pro72=) | gnomAD v4 |
5 | g.151259844C>T | CA447179880 | GM2A | c.171C>T (p.Pro57=) c.46C>T c.216C>T (p.Pro72=) | |
5 | g.151259845A= | CA1591312102 | GM2A | c.172A= (p.Ile58=) c.47A= c.217A= (p.Ile73=) | |
5 | g.151259845A>C | CA361805917 | GM2A | c.172A>C (p.Ile58Leu) c.47A>C c.217A>C (p.Ile73Leu) | |
5 | g.151259845A>G | CA3517881 | GM2A | c.172A>G (p.Ile58Val) c.47A>G c.217A>G (p.Ile73Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151259845A>T | CA361805918 | GM2A | c.172A>T (p.Ile58Phe) c.47A>T c.217A>T (p.Ile73Phe) | ClinVar dbSNP |
5 | g.151259846T>A | CA361805919 | GM2A | c.173T>A (p.Ile58Asn) c.48T>A c.218T>A (p.Ile73Asn) | |
5 | g.151259846T>C | CA3517882 | GM2A | c.173T>C (p.Ile58Thr) c.48T>C c.218T>C (p.Ile73Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151259846T>G | CA361805920 | GM2A | c.173T>G (p.Ile58Ser) c.48T>G c.218T>G (p.Ile73Ser) | gnomAD v4 |
5 | g.151259846T= | CA1591312103 | GM2A | c.173T= (p.Ile58=) c.48T= c.218T= (p.Ile73=) | |
5 | g.151259847C>A | CA447179883 | GM2A | c.174C>A (p.Ile58=) c.49C>A c.219C>A (p.Ile73=) | |
5 | g.151259847C= | CA1591312104 | GM2A | c.174C= (p.Ile58=) c.49C= c.219C= (p.Ile73=) | |
5 | g.151259847C>G | CA361805921 | GM2A | c.174C>G (p.Ile58Met) c.49C>G c.219C>G (p.Ile73Met) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151259847C>T | CA3517883 | GM2A | c.174C>T (p.Ile58=) c.49C>T c.219C>T (p.Ile73=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151259848A= | CA1591312105 | GM2A | c.175A= (p.Ile59=) c.50A= c.220A= (p.Ile74=) | |
5 | g.151259848A>C | CA361805922 | GM2A | c.175A>C (p.Ile59Leu) c.50A>C c.220A>C (p.Ile74Leu) | |
5 | g.151259848A>G | CA180085 | GM2A | c.175A>G (p.Ile59Val) c.50A>G c.220A>G (p.Ile74Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151259848A>T | CA361805923 | GM2A | c.175A>T (p.Ile59Phe) c.50A>T c.220A>T (p.Ile74Phe) | |
5 | g.151259848_151259849insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG | CA1082939611 | GM2A | c.175_176insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG (p.Ile59LysfsTer24) c.50_51insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG c.220_221insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG (p.Ile74LysfsTer24) | gnomAD v3 gnomAD v4 |
5 | g.151259849T>A | CA361805925 | GM2A | c.176T>A (p.Ile59Asn) c.51T>A c.221T>A (p.Ile74Asn) | |
5 | g.151259849T>C | CA3517884 | GM2A | c.176T>C (p.Ile59Thr) c.51T>C c.221T>C (p.Ile74Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151259849T>G | CA361805924 | GM2A | c.176T>G (p.Ile59Ser) c.51T>G c.221T>G (p.Ile74Ser) | |
5 | g.151259849T= | CA1591312106 | GM2A | c.176T= (p.Ile59=) c.51T= c.221T= (p.Ile74=) | |
5 | g.151259850C>A | CA447179884 | GM2A | c.177C>A (p.Ile59=) c.52C>A c.222C>A (p.Ile74=) |